ClinVar Miner

List of variants reported as benign for not provided by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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ClinVar version:
Total variants: 4863
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HGVS dbSNP gnomAD frequency
NM_000208.4(INSR):c.5C>G (p.Ala2Gly) rs7508518 0.99996
NM_000314.8(PTEN):c.-326G>C rs2943772 0.99984
NC_000010.11:g.87864104del rs71022512 0.99907
NM_053025.4(MYLK):c.1486C>G (p.Leu496Val) rs9833275 0.99852
NM_004985.5(KRAS):c.451-5617= rs4362222 0.99825
NM_000090.4(COL3A1):c.4059T>G (p.His1353Gln) rs1516446 0.99509
NM_003126.4(SPTA1):c.3487T>G (p.Ser1163Ala) rs2482965 0.99361
NM_000112.4(SLC26A2):c.1721T>C (p.Ile574Thr) rs30832 0.99306
NM_000350.3(ABCA4):c.141A>G (p.Pro47=) rs4847281 0.98746
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) rs1169305 0.98610
NM_000144.5(FXN):c.54A>G (p.Pro18=) rs2481598 0.98511
NM_000384.3(APOB):c.6937A>G (p.Ile2313Val) rs584542 0.98330
NM_174936.4(PCSK9):c.1026A>G (p.Gln342=) rs509504 0.98223
NM_000059.4(BRCA2):c.4563A>G (p.Leu1521=) rs206075 0.97986
NM_000059.4(BRCA2):c.7397T>C (p.Val2466Ala) rs169547 0.97902
NM_006231.4(POLE):c.3582+17A>G rs5744889 0.97472
NM_000088.4(COL1A1):c.3223= (p.Ala1075=) rs1800215 0.97286
NM_002473.6(MYH9):c.3429T>G (p.Ala1143=) rs710181 0.97278
NM_000168.6(GLI3):c.1356+11G>C rs846273 0.97240
NM_003126.4(SPTA1):c.126C>T (p.Val42=) rs435080 0.97180
NM_003126.4(SPTA1):c.24+3A>G rs2564858 0.97164
NM_000451.4(SHOX):c.277+17T>G rs2239402 0.97040
NM_003126.4(SPTA1):c.813-7A>T rs325995 0.95672
NM_003126.4(SPTA1):c.942T>A (p.Ala314=) rs325996 0.95473
NM_003000.3(SDHB):c.201-36G>T rs1022580 0.95416
NM_003000.3(SDHB):c.18C>A (p.Ala6=) rs2746462 0.95374
NM_004006.3(DMD):c.8810G>A (p.Arg2937Gln) rs1800280 0.95243
NM_005529.7(HSPG2):c.3302+13G>A rs2501265 0.94485
NM_005413.4(SIX3):c.942A>G (p.Ala314=) rs338074 0.93956
NM_001048174.2(MUTYH):c.420+35A>G rs3219487 0.93920
NM_001048174.2(MUTYH):c.1393-40C>G rs3219493 0.93580
NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys) rs425876 0.92861
NM_001243133.2(NLRP3):c.780A>G (p.Arg260=) rs4925543 0.92770
NM_006363.6(SEC23B):c.1233+9A>G rs6081189 0.91788
NM_174936.4(PCSK9):c.207+15A>G rs2495482 0.91171
NM_032119.4(ADGRV1):c.18625-7T>C rs7726023 0.91136
NM_000435.3(NOTCH3):c.4563A>G (p.Pro1521=) rs1044006 0.90693
NM_000435.3(NOTCH3):c.5913+28T>G rs4809029 0.90682
NM_000435.3(NOTCH3):c.5362+3T>C rs1548555 0.90675
NM_000435.3(NOTCH3):c.5816-8T>C rs4809030 0.90632
NM_001013703.4(EIF2AK4):c.99T>C (p.Ile33=) rs566792 0.90627
NM_000435.3(NOTCH3):c.5815+36G>A rs2074618 0.90515
NM_000435.3(NOTCH3):c.5363-21G>A rs10416777 0.90510
NM_000435.3(NOTCH3):c.5363-17C>T rs2074619 0.90508
NM_004655.4(AXIN2):c.1365A>G (p.Pro455=) rs9915936 0.90382
NM_000335.5(SCN5A):c.3183A>G (p.Glu1061=) rs7430407 0.90302
NM_001142864.4(PIEZO1):c.248T>C (p.Ile83Thr) rs6500495 0.89953
NM_001358263.1(HK1):c.75+5198G>A rs906221 0.89932
NM_001358263.1(HK1):c.75+5174A>G rs906220 0.89921
NM_001142864.4(PIEZO1):c.6570A>G (p.Pro2190=) rs6500491 0.89832
NM_001142864.4(PIEZO1):c.4014T>C (p.Phe1338=) rs4782430 0.89391
NM_001370259.2(MEN1):c.1621A>G (p.Thr541Ala) rs2959656 0.89377
NM_003322.6(TULP1):c.200C>G (p.Thr67Arg) rs7764472 0.88862
NM_053025.4(MYLK):c.439C>T (p.Pro147Ser) rs9840993 0.88650
NM_130837.3(OPA1):c.1035+4T>C rs166850 0.88294
NM_001142864.4(PIEZO1):c.7059T>C (p.Pro2353=) rs2290902 0.87977
NM_001365536.1(SCN9A):c.3481T>C (p.Trp1161Arg) rs6746030 0.87930
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431 0.87890
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502 0.87885
NM_001142864.4(PIEZO1):c.4956-3T>C rs9935872 0.87681
NM_000435.3(NOTCH3):c.1192+15A>G rs10423702 0.87325
NM_000435.3(NOTCH3):c.606A>G (p.Ala202=) rs1043994 0.87319
NM_020433.5(JPH2):c.156C>T (p.Tyr52=) rs1883790 0.86681
NM_002439.5(MSH3):c.2846A>G (p.Gln949Arg) rs184967 0.86544
NM_001142864.4(PIEZO1):c.749T>C (p.Val250Ala) rs7184427 0.85861
NM_177438.3(DICER1):c.*88T>A rs13078 0.85229
NM_003322.6(TULP1):c.783G>C (p.Lys261Asn) rs2064318 0.84569
NM_004006.3(DMD):c.9649+15T>C rs2293668 0.84201
NM_018979.4(WNK1):c.3166A>C (p.Thr1056Pro) rs956868 0.84165
NM_017780.4(CHD7):c.2238+39G>A rs4540437 0.83608
NM_002335.4(LRP5):c.1647T>C (p.Phe549=) rs545382 0.83202
NM_000518.5(HBB):c.315+16G>C rs10768683 0.82893
NM_174936.4(PCSK9):c.1380A>G (p.Val460=) rs540796 0.82761
NM_000518.5(HBB):c.9T>C (p.His3=) rs713040 0.82706
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552 0.82099
NM_000535.7(PMS2):c.780C>G (p.Ser260=) rs1805319 0.82058
NM_012452.3(TNFRSF13B):c.81G>A (p.Thr27=) rs8072293 0.81820
NM_002471.4(MYH6):c.800-11A>G rs434273 0.81807
NM_000089.4(COL1A2):c.936+14C>T rs42518 0.81710
NM_000089.4(COL1A2):c.937-3C>T rs42519 0.81243
NM_000089.4(COL1A2):c.1645C>G (p.Pro549Ala) rs42524 0.80779
NM_004360.5(CDH1):c.48+6C>T rs3743674 0.80384
NM_000188.3(HK1):c.1443G>A (p.Lys481=) rs748235 0.80224
NM_006005.3(WFS1):c.997G>A (p.Val333Ile) rs1801212 0.80149
NM_005529.7(HSPG2):c.13050A>G (p.Ser4350=) rs897467 0.78919
NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=) rs1762114 0.78856
NM_000447.3(PSEN2):c.69T>C (p.Ala23=) rs11405 0.77636
NM_000091.5(COL4A3):c.485A>G (p.Glu162Gly) rs6436669 0.77323
NM_002473.6(MYH9):c.1728+10G>A rs2413396 0.77118
NM_000435.3(NOTCH3):c.2742A>G (p.Pro914=) rs1043997 0.76937
NM_000435.3(NOTCH3):c.2792+21G>A rs11669982 0.76928
NM_017780.4(CHD7):c.1665+34G>A rs7836586 0.76770
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193 0.76694
NM_002180.3(IGHMBP2):c.602T>C (p.Leu201Ser) rs560096 0.76511
NM_002180.3(IGHMBP2):c.57T>C (p.Leu19=) rs1249463 0.76080
NM_001614.5(ACTG1):c.918C>T (p.Tyr306=) rs1139405 0.75861
NM_001844.5(COL2A1):c.25A>T (p.Thr9Ser) rs3803183 0.75794
NM_145861.4(EDARADD):c.27G>A (p.Met9Ile) rs966365 0.75593
NM_001844.5(COL2A1):c.85+18C>G rs3803184 0.75547
NM_004168.4(SDHA):c.891T>C (p.Pro297=) rs1126417 0.74998
NM_206933.4(USH2A):c.12612A>G (p.Thr4204=) rs2797235 0.74921
NM_000527.5(LDLR):c.2232A>G (p.Arg744=) rs5927 0.74675
NM_020975.6(RET):c.1296A>G (p.Ala432=) rs1800860 0.74268
NM_032043.3(BRIP1):c.2637A>G (p.Glu879=) rs4986765 0.74166
NM_014336.5(AIPL1):c.651A>G (p.Pro217=) rs2292546 0.73525
NM_206933.4(USH2A):c.373G>A (p.Ala125Thr) rs10779261 0.73169
NM_022336.4(EDAR):c.1056C>T (p.Cys352=) rs12623957 0.72397
NM_001081.4(CUBN):c.758T>C (p.Phe253Ser) rs1801222 0.72079
NM_002296.4(LBR):c.117G>A (p.Val39=) rs1056607 0.71598
NM_000552.5(VWF):c.4641T>C (p.Thr1547=) rs216310 0.71518
NM_000552.5(VWF):c.4141A>G (p.Thr1381Ala) rs216311 0.71493
NM_001142864.4(PIEZO1):c.1180G>C (p.Val394Leu) rs6500493 0.70789
NM_006883.2(SHOX):c.657G>A (p.Pro219=) rs28474801 0.70636
NM_006005.3(WFS1):c.2565A>G (p.Ser855=) rs1046316 0.70506
NM_005529.7(HSPG2):c.4508C>T (p.Ala1503Val) rs897471 0.70428
NM_004360.5(CDH1):c.2076T>C (p.Ala692=) rs1801552 0.70379
NM_000552.5(VWF):c.2546+25C>T rs216325 0.70354
NM_000238.4(KCNH2):c.1956T>C (p.Tyr652=) rs1137617 0.70278
NM_002439.5(MSH3):c.3133G>A (p.Ala1045Thr) rs26279 0.70269
NM_000033.4(ABCD1):c.*8G>C rs2229539 0.70012
NM_004006.3(DMD):c.2645A>G (p.Asp882Gly) rs228406 0.69509
NM_001999.4(FBN2):c.7200T>C (p.Ser2400=) rs190450 0.69111
NM_000435.3(NOTCH3):c.6668C>T (p.Ala2223Val) rs1044009 0.69087
NM_001999.4(FBN2):c.5675-9C>T rs27713 0.68788
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68476
NM_000178.4(GSS):c.275+20T>G rs734111 0.68215
NM_032638.5(GATA2):c.15C>G (p.Pro5=) rs1573858 0.68160
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile) rs154001 0.68054
NM_206933.4(USH2A):c.6317T>C (p.Ile2106Thr) rs6657250 0.67783
NM_000138.5(FBN1):c.6997+17C>G rs363832 0.67656
NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) rs3184504 0.66794
NM_006070.6(TFG):c.846T>C (p.Pro282=) rs11353 0.66628
NM_002230.4(JUP):c.2089A>T (p.Met697Leu) rs1126821 0.66611
NM_001374353.1(GLI2):c.3865G>A (p.Asp1289Asn) rs12711538 0.66550
NM_000546.6(TP53):c.74+38C>G rs1642785 0.66254
NM_006231.4(POLE):c.6252A>G (p.Ser2084=) rs5745022 0.66039
NM_000527.5(LDLR):c.1413A>G (p.Arg471=) rs5930 0.65878
NM_014000.3(VCL):c.875-24T>A rs1908339 0.65590
NM_000168.6(GLI3):c.547A>G (p.Thr183Ala) rs846266 0.64495
NM_006231.4(POLE):c.910-6G>C rs4077170 0.64353
NM_000435.3(NOTCH3):c.3461-32C>T rs56061231 0.63976
NM_001142864.4(PIEZO1):c.6642G>C (p.Leu2214=) rs8057031 0.63867
NM_001360016.2(G6PD):c.1365-13C>T rs2071429 0.63462
NM_006005.3(WFS1):c.461-9A>G rs10010131 0.63169
NM_000350.3(ABCA4):c.4773+48C>T rs472908 0.62724
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522 0.62654
NM_001358921.2(COQ2):c.46G>T (p.Val16Leu) rs6818847 0.62431
NM_206933.4(USH2A):c.4457G>A (p.Arg1486Lys) rs1805049 0.62414
NM_005188.4(CBL):c.1095+19G>T rs2510152 0.61865
NM_004972.4(JAK2):c.2490G>A (p.Leu830=) rs2230724 0.61784
NM_001374353.1(GLI2):c.3888A>G (p.Pro1296=) rs10167980 0.61468
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764 0.61453
NM_206933.4(USH2A):c.504A>G (p.Thr168=) rs4253963 0.61366
NM_000243.3(MEFV):c.942C>T (p.Arg314=) rs224213 0.61317
NM_019076.5(UGT1A8):c.855+63766C>A rs17863778 0.61291
NM_019076.5(UGT1A8):c.855+63767G>A rs17868324 0.61271
NM_019076.5(UGT1A8):c.855+63762T>G rs17868323 0.61254
NM_014336.5(AIPL1):c.300A>G (p.Leu100=) rs8075035 0.60839
NM_000038.6(APC):c.1408+743G>A rs2545162 0.60798
NM_003126.4(SPTA1):c.4702T>C (p.Cys1568Arg) rs863931 0.60775
NM_032043.3(BRIP1):c.3411T>C (p.Tyr1137=) rs4986763 0.60694
NM_000435.3(NOTCH3):c.4892-22G>T rs2074620 0.59905
NM_000243.3(MEFV):c.1356+44A>G rs224212 0.59650
NM_000243.3(MEFV):c.1530T>C (p.Asp510=) rs224206 0.59561
NM_000038.6(APC):c.5034G>A (p.Gly1678=) rs42427 0.59504
NM_000038.6(APC):c.5880G>A (p.Pro1960=) rs465899 0.59308
NM_000038.6(APC):c.5268T>G (p.Ser1756=) rs866006 0.59230
NM_000038.6(APC):c.4479G>A (p.Thr1493=) rs41115 0.59177
NM_000038.6(APC):c.1635G>A (p.Ala545=) rs351771 0.59150
NM_000033.4(ABCD1):c.1992-32C>T rs4898368 0.59030
NM_000243.3(MEFV):c.1764= (p.Pro588=) rs1231122 0.58770
NM_206933.4(USH2A):c.10232A>C (p.Glu3411Ala) rs10864198 0.58403
NM_000243.3(MEFV):c.1428A>G (p.Gln476=) rs224207 0.58038
NM_006005.3(WFS1):c.2433G>A (p.Lys811=) rs1046314 0.57941
NM_000243.3(MEFV):c.1422G>A (p.Glu474=) rs224208 0.57768
NM_194248.3(OTOF):c.2736G>C (p.Leu912=) rs4335905 0.56927
NM_000492.4(CFTR):c.1408G>A (p.Val470Met) rs213950 0.56732
NM_006005.3(WFS1):c.1185C>T (p.Val395=) rs1801206 0.56648
NM_000435.3(NOTCH3):c.3837+21T>A rs11670823 0.56639
NM_001042492.3(NF1):c.702G>A (p.Leu234=) rs1801052 0.56607
NM_000435.3(NOTCH3):c.2538C>T (p.Cys846=) rs1043996 0.56438
NM_004444.5(EPHB4):c.1752A>G (p.Gly584=) rs314359 0.56302
NM_001072.4(UGT1A6):c.862-10021T>G rs4124874 0.56024
NM_001482.3(GATM):c.1252T>C (p.Leu418=) rs1145086 0.55793
NM_002691.4(POLD1):c.2953+12C>T rs3218776 0.55791
NM_000251.3(MSH2):c.211+9C>G rs2303426 0.55454
NM_000492.4(CFTR):c.1680-870T>A rs213965 0.55332
NM_015559.3(SETBP1):c.540+7422_540+7423insTCTT rs3085861 0.54222
NM_000059.4(BRCA2):c.7806-14T>C rs9534262 0.53977
NM_001377229.1(DISP1):c.3822A>C (p.Pro1274=) rs9441941 0.53617
NM_006231.4(POLE):c.3156G>A (p.Thr1052=) rs5744857 0.53577
NM_006231.4(POLE):c.4530A>G (p.Ala1510=) rs5744944 0.53564
NM_002471.4(MYH6):c.4914T>C (p.Ala1638=) rs178640 0.53346
NM_000208.4(INSR):c.1483+31T>C rs2860178 0.52842
NM_004655.4(AXIN2):c.1386C>T (p.Pro462=) rs1133683 0.52439
NM_003126.4(SPTA1):c.7095A>G (p.Ala2365=) rs2251969 0.52153
NM_003126.4(SPTA1):c.6794T>C (p.Ile2265Thr) rs952094 0.52034
NM_000038.6(APC):c.-19+734C>T rs2020383 0.51721
NM_000552.5(VWF):c.1451A>G (p.His484Arg) rs1800378 0.51348
NM_001953.5(TYMP):c.972C>T (p.Ala324=) rs131804 0.51130
NM_002485.5(NBN):c.1197T>C (p.Asp399=) rs709816 0.51063
NM_206933.4(USH2A):c.6506T>C (p.Ile2169Thr) rs10864219 0.50009
NM_001042492.3(NF1):c.5609+19T>A rs2285894 0.49901
NM_003126.4(SPTA1):c.915T>C (p.Ser305=) rs703121 0.49738
NM_006231.4(POLE):c.6330+15G>A rs5745023 0.49667
NM_001605.3(AARS1):c.903C>T (p.His301=) rs2070203 0.49332
NM_012452.3(TNFRSF13B):c.831T>C (p.Ser277=) rs11078355 0.48964
NM_000447.3(PSEN2):c.129C>T (p.Asn43=) rs6759 0.48630
NM_000243.3(MEFV):c.306T>C (p.Asp102=) rs224225 0.48544
NM_000243.3(MEFV):c.495C>A (p.Ala165=) rs224223 0.48450
NM_004183.4(BEST1):c.109T>C (p.Leu37=) rs1800007 0.48331
NM_017668.3(NDE1):c.*202G>A rs11130 0.47916
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser) rs1052030 0.47208
NM_000038.6(APC):c.1458T>C (p.Tyr486=) rs2229992 0.46792
NM_000098.3(CPT2):c.1102G>A (p.Val368Ile) rs1799821 0.46024
NM_002474.3(MYH11):c.4242T>G (p.Ala1414=) rs2075511 0.45713
NM_001999.4(FBN2):c.6880+17G>A rs2042327 0.45423
NM_001482.3(GATM):c.330A>T (p.Gln110His) rs1288775 0.45330
NM_174936.4(PCSK9):c.658-7C>T rs2483205 0.45035
NM_002471.4(MYH6):c.3302T>C (p.Val1101Ala) rs365990 0.44987
NM_017654.4(SAMD9):c.960T>C (p.Tyr320=) rs6965201 0.44772
NM_000492.4(CFTR):c.2562T>G (p.Thr854=) rs1042077 0.44737
NM_001355436.2(SPTB):c.2154A>C (p.Ile718=) rs229591 0.44391
NM_000335.5(SCN5A):c.5454T>C (p.Asp1818=) rs1805126 0.44288
NM_002474.3(MYH11):c.5439G>A (p.Lys1813=) rs1050162 0.44262
NM_002474.3(MYH11):c.5478G>A (p.Leu1826=) rs1050163 0.44235
NM_000518.5(HBB):c.315+74T>G rs7480526 0.44189
NM_006231.4(POLE):c.62+15C>T rs2075784 0.43566
NM_017617.5(NOTCH1):c.5094C>T (p.Asp1698=) rs10521 0.43502
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) rs734312 0.43085
NM_001042492.3(NF1):c.2034G>A (p.Pro678=) rs2285892 0.42930
NM_006892.4(DNMT3B):c.1252+13T>G rs910085 0.42898
NM_001355436.2(SPTB):c.1316G>A (p.Ser439Asn) rs229587 0.42630
NM_000552.5(VWF):c.1548T>C (p.Tyr516=) rs1800379 0.41956
NM_004183.4(BEST1):c.1608T>C (p.Thr536=) rs1800009 0.41922
NM_001355436.2(SPTB):c.300+7T>C rs229581 0.41899
NM_000249.4(MLH1):c.1668-19A>G rs9876116 0.41821
NM_001355436.2(SPTB):c.4860T>C (p.Ile1620=) rs229592 0.41773
NM_000414.4(HSD17B4):c.1675A>G (p.Ile559Val) rs11205 0.41131
NM_000552.5(VWF):c.2365A>G (p.Thr789Ala) rs1063856 0.40814
NM_000552.5(VWF):c.2385T>C (p.Tyr795=) rs1063857 0.40791
NM_004329.3(BMPR1A):c.4C>A (p.Pro2Thr) rs11528010 0.40719
NM_003126.4(SPTA1):c.2874G>A (p.Leu958=) rs857691 0.40606
NM_001355436.2(SPTB):c.4293A>G (p.Arg1431=) rs1626923 0.40570
NM_004329.3(BMPR1A):c.1343-11T>C rs7074064 0.40534
NM_000251.3(MSH2):c.1661+12G>A rs3732183 0.40290
NM_000314.8(PTEN):c.1026+32T>G rs555895 0.40232
NM_001235.5(SERPINH1):c.598C>T (p.Leu200=) rs651581 0.40105
NM_001065.4(TNFRSF1A):c.36A>G (p.Pro12=) rs767455 0.39963
NM_001358263.1(HK1):c.28-3306C>T rs4746836 0.39788
NM_000243.3(MEFV):c.1760-30T>A rs1231123 0.39404
NM_019076.5(UGT1A8):c.856-74011T>G rs6759892 0.39200
NM_004655.4(AXIN2):c.148C>T (p.Pro50Ser) rs2240308 0.39067
NM_001371279.1(REEP1):c.285G>A (p.Thr95=) rs2276625 0.39011
NM_000314.8(PTEN):c.80-96A>G rs1903858 0.38960
NM_001355436.2(SPTB):c.3451A>G (p.Asn1151Asp) rs77806 0.38794
NM_000384.3(APOB):c.7545C>T (p.Thr2515=) rs693 0.38722
NM_000038.6(APC):c.-19+647A>G rs2019720 0.38718
NM_000384.3(APOB):c.6936C>T (p.Asp2312=) rs1041968 0.38695
NM_001142864.4(PIEZO1):c.1219A>G (p.Arg407Gly) rs13333358 0.38670
NM_000414.4(HSD17B4):c.317G>A (p.Arg106His) rs25640 0.38375
NM_001065.4(TNFRSF1A):c.625+10A>G rs1800693 0.38055
NM_000061.3(BTK):c.1899C>T (p.Cys633=) rs1135363 0.37760
NM_000527.5(LDLR):c.1959T>C (p.Val653=) rs5925 0.37370
NM_153717.3(EVC):c.1099-19T>C rs899691 0.37351
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321 0.37107
NM_004006.3(DMD):c.5234G>A (p.Arg1745His) rs1801187 0.36912
NM_001355436.2(SPTB):c.876+5A>G rs230703 0.36832
NM_001360016.2(G6PD):c.*357= rs1050757 0.36655
NM_003322.6(TULP1):c.776T>C (p.Ile259Thr) rs2064317 0.36637
G6PD:c.1455-13T>C rs2071429 0.36538
NM_000188.3(HK1):c.78C>G (p.Leu26=) rs1133189 0.36523
NM_012452.3(TNFRSF13B):c.445+25A>C rs2274892 0.35819
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=) rs1748 0.35806
NM_001235.5(SERPINH1):c.363C>G (p.Ser121=) rs650241 0.35781
NM_033337.3(CAV3):c.99C>T (p.Asn33=) rs1008642 0.35756
NM_004972.4(JAK2):c.489C>T (p.His163=) rs2230722 0.35691
NM_019076.5(UGT1A8):c.856-73715A>G rs1105880 0.35288
NM_001370466.1(NOD2):c.453C>G (p.Ser151=) rs2067085 0.35090
NM_000298.6(PKLR):c.1705C>A (p.Arg569=) rs1052176 0.35034
NM_006231.4(POLE):c.6657+16C>T rs5745075 0.34836
NM_005343.4(HRAS):c.81T>C (p.His27=) rs12628 0.34645
NM_001355436.2(SPTB):c.4476T>C (p.Leu1492=) rs1741487 0.34432
NM_001355436.2(SPTB):c.4482G>A (p.Val1494=) rs1741488 0.34424
NM_001355436.2(SPTB):c.4641G>A (p.Ala1547=) rs184528 0.34399
NM_003242.6(TGFBR2):c.263+7A>G rs1155705 0.34308
NM_003126.4(SPTA1):c.5292C>A (p.Ala1764=) rs3738791 0.34201
NM_003126.4(SPTA1):c.4195-12G>A rs6702040 0.34186
NM_019076.5(UGT1A8):c.855+63997T>C rs11692021 0.33934
NM_206933.4(USH2A):c.12666A>G (p.Thr4222=) rs2797234 0.33929
NM_014845.6(FIG4):c.1961T>C (p.Val654Ala) rs9885672 0.33924
NM_005529.7(HSPG2):c.9852T>C (p.Ala3284=) rs2291826 0.33918
NM_019076.5(UGT1A8):c.855+63408C>A rs7577677 0.33834
NM_000535.7(PMS2):c.705+17A>G rs62456182 0.33782
NM_003126.4(SPTA1):c.5958C>T (p.Pro1986=) rs3753068 0.33588
NM_006363.6(SEC23B):c.1744-20T>A rs3736775 0.33572
NM_000311.5(PRNP):c.385A>G (p.Met129Val) rs1799990 0.33516
NM_019076.5(UGT1A8):c.856-73478A>C rs1105879 0.33415
NM_000527.5(LDLR):c.1773C>T (p.Asn591=) rs688 0.33392
NM_001457.4(FLNB):c.3469G>A (p.Asp1157Asn) rs1131356 0.33365
NM_002661.5(PLCG2):c.1149C>T (p.Asp383=) rs1143688 0.33340
NM_000014.6(A2M):c.2998A>G (p.Ile1000Val) rs669 0.33134
NM_004006.3(DMD):c.8027+11C>T rs2270672 0.33026
NM_002485.5(NBN):c.102G>A (p.Leu34=) rs1063045 0.32752
NM_002485.5(NBN):c.1915-7A>G rs2308962 0.32733
NM_001370466.1(NOD2):c.1680T>G (p.Arg560=) rs1861759 0.32445
NM_004444.5(EPHB4):c.1890C>T (p.Cys630=) rs2230585 0.32365
NM_000179.3(MSH6):c.3438+14A>T rs2020911 0.32279
NM_004006.3(DMD):c.2168+13T>C rs228373 0.32216
NM_003126.4(SPTA1):c.1350+14A>T rs703116 0.31859
NM_080680.3(COL11A2):c.877-4T>A rs1799907 0.31476
NM_000168.6(GLI3):c.2993C>T (p.Pro998Leu) rs929387 0.31467
NM_181523.3(PIK3R1):c.334+14A>C rs706714 0.31124
NM_181523.3(PIK3R1):c.219C>T (p.Tyr73=) rs706713 0.31073
NM_001142864.4(PIEZO1):c.63T>G (p.Ala21=) rs2911442 0.30977
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683 0.30966
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181 0.30942
NM_001370259.2(MEN1):c.1254C>T (p.Asp418=) rs2071313 0.30843
NM_007294.4(BRCA1):c.2082C>T (p.Ser694=) rs1799949 0.30810
NM_004333.6(BRAF):c.1929A>G (p.Gly643=) rs9648696 0.30796
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942 0.30784
NM_002485.5(NBN):c.553G>C (p.Glu185Gln) rs1805794 0.30329
NM_007294.4(BRCA1):c.5152+66G>A rs3092994 0.30314
NM_000548.5(TSC2):c.5161-10A>C rs1800718 0.30182
NM_032119.4(ADGRV1):c.9927T>G (p.Pro3309=) rs16869042 0.30112
NM_002485.5(NBN):c.1124+18C>T rs2234744 0.30095
NM_002485.5(NBN):c.2016A>G (p.Pro672=) rs1061302 0.30090
NM_019076.5(UGT1A8):c.856-73489A>G rs2070959 0.29751
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665 0.29501
NM_000552.5(VWF):c.3222+31C>T rs73051263 0.29425
NM_004239.4(TRIP11):c.5479G>A (p.Gly1827Ser) rs1051340 0.29281
NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=) rs1060915 0.29170
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_007294.4(BRCA1):c.2311T>C (p.Leu771=) rs16940 0.29035
NM_001142864.4(PIEZO1):c.2329+19G>A rs2306050 0.28823
NC_000023.11:g.136644791A>G rs3092952 0.28633
NM_021830.5(TWNK):c.1593-3T>C rs3740486 0.28631
NM_000071.3(CBS):c.699C>T (p.Tyr233=) rs234706 0.28613
NM_152703.5(SAMD9L):c.303G>A (p.Gln101=) rs1133906 0.28453
NM_001395413.1(POR):c.1707G>A (p.Ser569=) rs1057870 0.28425
NM_000059.4(BRCA2):c.3396A>G (p.Lys1132=) rs1801406 0.28273
NM_002439.5(MSH3):c.359-7G>A rs1382543 0.27946
NM_000350.3(ABCA4):c.6285T>C (p.Asp2095=) rs1801555 0.27862
NM_000090.4(COL3A1):c.2244T>C (p.Gly748=) rs1801184 0.27758
NM_000257.4(MYH7):c.732C>T (p.Phe244=) rs2069542 0.27385
NM_001608.4(ACADL):c.997A>C (p.Lys333Gln) rs2286963 0.27207
NM_000719.7(CACNA1C):c.617+17G>A rs1544515 0.27035
NM_001395413.1(POR):c.1499C>T (p.Ala500Val) rs1057868 0.26722
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His) rs3219489 0.26720
NM_004168.4(SDHA):c.1932G>A (p.Val644=) rs6961 0.26598
NM_000208.4(INSR):c.1862-20A>G rs2245648 0.26534
NM_001377229.1(DISP1):c.2835A>G (p.Lys945=) rs2609355 0.26356
NM_004168.4(SDHA):c.1038C>G (p.Ser346=) rs1041949 0.26134
NM_003242.6(TGFBR2):c.455-4T>A rs11466512 0.25954
NM_000431.4(MVK):c.632-18A>G rs2270375 0.25946
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) rs3112831 0.25928
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_000455.5(STK11):c.290+36G>T rs3764640 0.25746
NM_000052.7(ATP7A):c.2782-29C>A rs113968994 0.25602
NM_001142864.4(PIEZO1):c.6793A>G (p.Ile2265Val) rs1803382 0.25214
NM_004168.4(SDHA):c.895+28T>C rs2288459 0.25210
NM_004168.4(SDHA):c.619A>C (p.Arg207=) rs6555055 0.25190
NM_004168.4(SDHA):c.1752A>G (p.Ala584=) rs13070 0.25187
NM_004168.4(SDHA):c.684T>C (p.Asn228=) rs2115272 0.25174
NM_004168.4(SDHA):c.309A>G (p.Ala103=) rs1139424 0.25161
NM_004168.4(SDHA):c.1680G>A (p.Thr560=) rs1139449 0.25156
NM_004168.4(SDHA):c.1664-34C>T rs10041187 0.25155
NM_004168.4(SDHA):c.896-20A>G rs7710005 0.25110
NM_004444.5(EPHB4):c.52+14del rs35907339 0.25104
NM_001355436.2(SPTB):c.1269G>A (p.Leu423=) rs229586 0.25102
NM_000138.5(FBN1):c.1875T>C (p.Asn625=) rs25458 0.25074
NM_004168.4(SDHA):c.1432+39C>T rs10057677 0.24939
NM_000260.4(MYO7A):c.6318G>A (p.Lys2106=) rs11237123 0.24897
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_001065.4(TNFRSF1A):c.740-9T>C rs12426675 0.24746
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu) rs2227291 0.24533
NM_000022.4(ADA):c.534A>G (p.Val178=) rs244076 0.24494
NM_002180.3(IGHMBP2):c.2011A>G (p.Thr671Ala) rs622082 0.24183
NM_002180.3(IGHMBP2):c.2316C>T (p.Ser772=) rs546382 0.24174
NM_000552.5(VWF):c.1182A>C (p.Ser394=) rs1800376 0.24101
NM_003126.4(SPTA1):c.2493T>G (p.Leu831=) rs2518493 0.24070
NM_000208.4(INSR):c.1610+28A>C rs2860177 0.24043
NM_000179.3(MSH6):c.540T>C (p.Asp180=) rs1800935 0.23857
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574 0.23813
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.23806
NM_003126.4(SPTA1):c.5077A>C (p.Lys1693Gln) rs857725 0.23548
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=) rs1800136 0.23407
NM_000552.5(VWF):c.1173A>T (p.Thr391=) rs1800375 0.23172
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977 0.23048
NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=) rs2070825 0.22980
NM_000535.7(PMS2):c.23+72C>T rs3735295 0.22869
NM_177438.3(DICER1):c.1907+105C>T rs2275182 0.22841
NM_001384140.1(PCDH15):c.1138G>A (p.Gly380Ser) rs10825269 0.22813
NM_181523.3(PIK3R1):c.978G>A (p.Met326Ile) rs3730089 0.22679
NM_005026.5(PIK3CD):c.2808C>T (p.Tyr936=) rs11121484 0.22663
NM_000133.4(F9):c.580A>G (p.Thr194Ala) rs6048 0.22614
NM_001142864.4(PIEZO1):c.4193C>T (p.Pro1398Leu) rs11645197 0.22515
NM_001142864.4(PIEZO1):c.5569C>T (p.Pro1857Ser) rs35159887 0.22508
NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys) rs17612126 0.22387
NM_001142864.4(PIEZO1):c.465+8C>T rs2242164 0.22253
NM_003126.4(SPTA1):c.3570-12C>T rs2246434 0.22246
NM_001943.5(DSG2):c.2318G>A (p.Arg773Lys) rs2278792 0.22185
NM_004612.4(TGFBR1):c.1255+24G>A rs334354 0.22164
NM_000459.5(TEK):c.3123G>A (p.Gly1041=) rs2273719 0.22124
NM_001276345.2(TNNT2):c.811-122C>G rs45509695 0.22049
NM_002474.3(MYH11):c.3700G>A (p.Ala1234Thr) rs16967494 0.21955
NM_152703.5(SAMD9L):c.2604T>C (p.Ala868=) rs1029357 0.21854
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21790
NM_000548.5(TSC2):c.2546-12C>T rs13331451 0.21707
NM_198253.3(TERT):c.915G>A (p.Ala305=) rs2736098 0.21206
NM_004006.3(DMD):c.7096A>C (p.Lys2366Gln) rs1800275 0.21153
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly) rs1805087 0.21137
NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr) rs1800255 0.21080
NM_000208.4(INSR):c.1861+27C>T rs3815902 0.21056
NM_000243.3(MEFV):c.605G>A (p.Arg202Gln) rs224222 0.20976
NM_000059.4(BRCA2):c.-26G>A rs1799943 0.20795
NM_001142864.4(PIEZO1):c.635-8C>T rs11076706 0.20777
NG_000007.3(HBG2):g.42677C>T rs7482144 0.20740
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_000719.7(CACNA1C):c.3786C>T (p.Phe1262=) rs216008 0.20673
NM_020975.6(RET):c.337+9G>A rs2435351 0.20641
NM_001035.3(RYR2):c.8873A>G (p.Gln2958Arg) rs34967813 0.20632
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=) rs4147857 0.20473
NM_020975.6(RET):c.2307= (p.Leu769=) rs1800861 0.20453
NM_000142.5(FGFR3):c.882T>C (p.Asn294=) rs2234909 0.20412
NM_000238.4(KCNH2):c.2690A>C (p.Lys897Thr) rs1805123 0.20300
NM_000208.4(INSR):c.3255C>T (p.His1085=) rs1799817 0.20288
NM_000112.4(SLC26A2):c.2065A>T (p.Thr689Ser) rs3776070 0.19906
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029 0.19626
NM_004415.4(DSP):c.5213G>A (p.Arg1738Gln) rs6929069 0.19612
NM_014336.5(AIPL1):c.268G>C (p.Asp90His) rs12449580 0.19586
NM_004985.5(KRAS):c.519T>C (p.Asp173=) rs1137282 0.19563
NM_000455.5(STK11):c.374+24G>T rs2075604 0.18985
NM_000478.6(ALPL):c.876A>G (p.Pro292=) rs3200255 0.18763
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821 0.18742
NM_145861.4(EDARADD):c.369C>T (p.Asp123=) rs604070 0.18581
NM_000059.4(BRCA2):c.3807T>C (p.Val1269=) rs543304 0.18381
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_170707.4(LMNA):c.1157+16G>A rs534807 0.18318
NM_002454.3(MTRR):c.1783C>T (p.His595Tyr) rs10380 0.18188
NM_004168.4(SDHA):c.1969G>A (p.Val657Ile) rs6962 0.18133
NM_000435.3(NOTCH3):c.303C>T (p.Thr101=) rs3815188 0.18114
NM_019076.5(UGT1A8):c.855+64131G>A rs17864686 0.18037
NM_001370466.1(NOD2):c.721C>T (p.Pro241Ser) rs2066842 0.17968
NM_053025.4(MYLK):c.1651+6T>A rs820329 0.17955
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe) rs6820907 0.17921
NM_020919.4(ALS2):c.4580+7G>A rs3219169 0.17898
NM_032638.5(GATA2):c.1018-19C>T rs11708606 0.17884
NM_000478.6(ALPL):c.787T>C (p.Tyr263His) rs3200254 0.17878
NM_032638.5(GATA2):c.490G>A (p.Ala164Thr) rs2335052 0.17829
NM_000459.5(TEK):c.2976T>C (p.Tyr992=) rs3737188 0.17751
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652 0.17582
NM_001355436.2(SPTB):c.6023-8C>T rs56181906 0.17449
NM_053025.4(MYLK):c.62C>A (p.Pro21His) rs28497577 0.17349
NM_001355436.2(SPTB):c.6269+13C>T rs11622977 0.17268
NM_001370466.1(NOD2):c.1296C>T (p.Arg432=) rs2066843 0.17266
NM_206933.4(USH2A):c.11946G>A (p.Leu3982=) rs2820718 0.17214
NM_000431.4(MVK):c.510C>T (p.Asp170=) rs2287218 0.17165
NM_001355436.2(SPTB):c.5799-7C>T rs7142689 0.17051
NM_020975.6(RET):c.2712C>G (p.Ser904=) rs1800863 0.17043
NM_004360.5(CDH1):c.*54C>T rs1801026 0.17023
NM_000335.5(SCN5A):c.1141-3C>A rs41312433 0.16821
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939 0.16640
NM_017654.4(SAMD9):c.428T>C (p.Ile143Thr) rs6969691 0.16513
NM_000431.4(MVK):c.769-38C>T rs35191208 0.16489
NM_000552.5(VWF):c.998-27C>T rs55907031 0.16358
NM_000455.5(STK11):c.920+7G>C rs2075607 0.16357
NM_004364.5(CEBPA):c.690G>T (p.Thr230=) rs34529039 0.16355
NM_000346.4(SOX9):c.507C>T (p.His169=) rs2229989 0.16350
NM_001142864.4(PIEZO1):c.1297-16C>T rs114153706 0.16323
NM_000138.5(FBN1):c.3464-5G>A rs11853943 0.16287
NM_001142864.4(PIEZO1):c.455C>T (p.Pro152Leu) rs7404939 0.16061
NM_000368.5(TSC1):c.1335A>G (p.Glu445=) rs7862221 0.15974
NM_000090.4(COL3A1):c.1851G>A (p.Gln617=) rs7579903 0.15955
NM_001384140.1(PCDH15):c.1304A>C (p.Asp435Ala) rs4935502 0.15952
NM_004006.3(DMD):c.7728T>C (p.Asn2576=) rs1801188 0.15883
NM_007294.4(BRCA1):c.442-34C>T rs799923 0.15730
NM_001377229.1(DISP1):c.307G>A (p.Glu103Lys) rs2609383 0.15673
NM_001377229.1(DISP1):c.309G>T (p.Glu103Asp) rs2789975 0.15672
NM_053025.4(MYLK):c.782T>C (p.Val261Ala) rs3796164 0.15515
NM_001031834.1(RAB40AL):c.82A>G (p.Ser28Gly) rs61745026 0.15414
NM_000264.5(PTCH1):c.1686C>T (p.Ala562=) rs2066836 0.15395
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123 0.15387
NM_001031834.1(RAB40AL):c.69G>C (p.Arg23Ser) rs61745030 0.15369
NM_000098.3(CPT2):c.1939A>G (p.Met647Val) rs1799822 0.15237
NM_022051.3(EGLN1):c.380G>C (p.Cys127Ser) rs12097901 0.15191
NM_000059.4(BRCA2):c.*105A>C rs15869 0.15131
NM_001142864.4(PIEZO1):c.2031G>A (p.Val677=) rs34908386 0.15110
NM_000179.3(MSH6):c.276A>G (p.Pro92=) rs1800932 0.14697
NM_014208.3(DSPP):c.3418A>G (p.Asn1140Asp) rs140656082 0.14666
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg) rs2234962 0.14532
NM_014208.3(DSPP):c.202A>T (p.Arg68Trp) rs36094464 0.14530
NM_006767.4(LZTR1):c.1683C>T (p.Arg561=) rs4822790 0.14494
NM_001148.6(ANK2):c.8503C>T (p.Pro2835Ser) rs3733617 0.14405
NM_001999.4(FBN2):c.111G>A (p.Pro37=) rs55715053 0.14249
NM_000414.4(HSD17B4):c.1531T>C (p.Trp511Arg) rs11539471 0.14167
NM_000093.5(COL5A1):c.4122G>A (p.Thr1374=) rs3827848 0.14130
NM_206937.2(LIG4):c.1704T>C (p.Asp568=) rs1805386 0.13864
NM_000257.4(MYH7):c.1095G>A (p.Lys365=) rs735711 0.13859
NM_001987.5(ETV6):c.258G>A (p.Thr86=) rs11611479 0.13807
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys) rs2076299 0.13777
NM_000535.7(PMS2):c.1621= (p.Lys541=) rs2228006 0.13518
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865 0.13476
NM_001081.4(CUBN):c.5803A>G (p.Ser1935Gly) rs41289305 0.13356
NM_000350.3(ABCA4):c.6282+7G>A rs17110761 0.13306
NM_001999.4(FBN2):c.8274C>T (p.Ser2758=) rs10070365 0.13267
NM_024675.4(PALB2):c.1676A>G (p.Gln559Arg) rs152451 0.12980
NM_005428.4(VAV1):c.322-8C>T rs28617395 0.12963
NM_000548.5(TSC2):c.482-3C>T rs1800720 0.12927
NM_000398.7(CYB5R3):c.132G>A (p.Pro44=) rs5996200 0.12874
NM_004006.3(DMD):c.837G>A (p.Thr279=) rs1800265 0.12849
NM_006231.4(POLE):c.4187A>G (p.Asn1396Ser) rs5744934 0.12807
NM_000179.3(MSH6):c.186C>A (p.Arg62=) rs1042820 0.12806
NM_000891.3(KCNJ2):c.1146C>T (p.Leu382=) rs173135 0.12771
NM_001042492.3(NF1):c.6642+45T>A rs17883614 0.12771
NM_004006.3(DMD):c.1635A>G (p.Arg545=) rs5927083 0.12751
NM_006363.6(SEC23B):c.1467C>G (p.His489Gln) rs2273526 0.12707
NM_001148.6(ANK2):c.7106T>C (p.Val2369Ala) rs28377576 0.12654
NM_001142864.4(PIEZO1):c.7362C>T (p.Phe2454=) rs35544968 0.12625
NM_000264.5(PTCH1):c.1665T>C (p.Asn555=) rs1805155 0.12597
NM_206933.4(USH2A):c.11389+9A>T rs12095085 0.12571
NM_000208.4(INSR):c.1932A>C (p.Pro644=) rs2245655 0.12535
NM_000208.4(INSR):c.1862-4A>G rs2245649 0.12510
NM_000208.4(INSR):c.1918C>T (p.Leu640=) rs2963 0.12510
NM_004281.4(BAG3):c.1220C>T (p.Pro407Leu) rs3858340 0.12393
NM_012452.3(TNFRSF13B):c.752C>T (p.Pro251Leu) rs34562254 0.12363
NM_000535.7(PMS2):c.2007-4G>A rs1805326 0.12350
NM_002439.5(MSH3):c.693G>A (p.Pro231=) rs1805355 0.12319
NM_000435.3(NOTCH3):c.5526T>C (p.Ala1842=) rs16980398 0.12317
NM_000535.7(PMS2):c.2007-7C>T rs55954143 0.12135
NM_001031834.1(RAB40AL):c.447C>T (p.Gly149=) rs7066794 0.11958
NM_000208.4(INSR):c.783C>T (p.Asp261=) rs891087 0.11869
NM_001370259.2(MEN1):c.-23-16C>G rs509606 0.11597
NM_001853.4(COL9A3):c.93C>A (p.Pro31=) rs2273078 0.11502
NM_000535.7(PMS2):c.2466T>C (p.Leu822=) rs10000 0.11447
NM_003002.4(SDHD):c.315-32T>C rs4151637 0.11444
NM_003002.4(SDHD):c.170-29A>G rs9919624 0.11431
NM_003002.4(SDHD):c.204C>T (p.Ser68=) rs9919552 0.11428
NM_000431.4(MVK):c.155G>A (p.Ser52Asn) rs7957619 0.11415
NM_001498.4(GCLC):c.1703-19G>A rs17885800 0.11413
NM_000552.5(VWF):c.1411G>A (p.Val471Ile) rs1800377 0.11338
NM_001031834.1(RAB40AL):c.435C>T (p.Ala145=) rs61745022 0.11180
NM_001355436.2(SPTB):c.6891G>A (p.Ala2297=) rs57421986 0.11140
NM_001999.4(FBN2):c.6931A>G (p.Met2311Val) rs32209 0.11103
NM_001142864.4(PIEZO1):c.2159G>A (p.Arg720His) rs35265318 0.11086
NM_005475.3(SH2B3):c.494C>G (p.Thr165Ser) rs7963692 0.11086
NM_001142864.4(PIEZO1):c.2130C>T (p.Asp710=) rs35353288 0.11051
NM_001243133.2(NLRP3):c.657C>T (p.Thr219=) rs7525979 0.10943
NM_194454.3(KRIT1):c.1980A>G (p.Val660=) rs11542682 0.10861
NM_003000.3(SDHB):c.200+33G>A rs2647169 0.10785
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516 0.10783
NM_001142864.4(PIEZO1):c.7500C>T (p.Tyr2500=) rs1061228 0.10667
NM_001370259.2(MEN1):c.1621= (p.Thr541=) rs2959656 0.10623
NM_001999.4(FBN2):c.183C>G (p.Pro61=) rs73348287 0.10581
NM_000141.5(FGFR2):c.557T>C (p.Met186Thr) rs755793 0.10553
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro) rs35769976 0.10508
NM_005529.7(HSPG2):c.8983A>G (p.Ser2995Gly) rs2229491 0.10503
NM_002474.3(MYH11):c.417C>T (p.Val139=) rs1050111 0.10480
NM_000518.5(HBB):c.315+81C>T rs7946748 0.10445
NM_000518.4(HBB):c.*233G>C rs12788013 0.10429
NM_000251.2(MSH2):c.-118T>C rs2303425 0.10354
NM_006363.6(SEC23B):c.1298C>T (p.Pro433Leu) rs17807673 0.10334
NM_004183.4(BEST1):c.219C>A (p.Ile73=) rs1109748 0.10271
NM_001142864.4(PIEZO1):c.1540C>T (p.Leu514=) rs78905828 0.10252
NM_000552.5(VWF):c.8253+32T>C rs2362483 0.10095
NM_001377229.1(DISP1):c.1536G>A (p.Val512=) rs61738819 0.10087
NM_000552.5(VWF):c.8253+39C>T rs2362482 0.10024
NM_001142864.4(PIEZO1):c.2181-15C>T rs77376965 0.09906
NM_000180.4(GUCY2D):c.61T>C (p.Trp21Arg) rs9905402 0.09880
NM_000552.5(VWF):c.3240T>C (p.Tyr1080=) rs4021576 0.09832
NM_000492.4(CFTR):c.1210-13G>T rs10229820 0.09791
NM_001358263.1(HK1):c.75+5185C>T rs1108272 0.09778
NM_000552.5(VWF):c.3379+7A>C rs113446850 0.09700
NM_003640.5(ELP1):c.1965C>T (p.Thr655=) rs2230791 0.09637
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989 0.09621
NM_152703.5(SAMD9L):c.796G>A (p.Val266Ile) rs10488532 0.09555
NM_003060.4(SLC22A5):c.*47C>T rs1045020 0.09512
NM_003126.4(SPTA1):c.2757A>G (p.Glu919=) rs16840450 0.09495
NM_003126.4(SPTA1):c.2558C>G (p.Thr853Arg) rs35121052 0.09487
NM_001999.4(FBN2):c.5823T>C (p.His1941=) rs11955288 0.09446
NM_152703.5(SAMD9L):c.4547A>C (p.Asn1516Thr) rs10282508 0.09443
NM_002755.4(MAP2K1):c.1023-8C>T rs41306345 0.09409
NM_000350.3(ABCA4):c.1269C>T (p.His423=) rs4147831 0.09402
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu) rs11479 0.09354
NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg) rs35441642 0.09351
NM_004444.5(EPHB4):c.546T>C (p.Gly182=) rs56173078 0.09290
NM_000132.4(F8):c.3864A>C (p.Ser1288=) rs1800292 0.09246
NM_003126.4(SPTA1):c.2425A>G (p.Ile809Val) rs7547313 0.09176
NM_001081.4(CUBN):c.3522C>T (p.Gly1174=) rs1873469 0.09173
NM_001006658.3(CR2):c.2328T>C (p.Ile776=) rs61735651 0.09124
NM_000251.3(MSH2):c.1511-9A>T rs12998837 0.09123
NM_001062.4(TCN1):c.901G>T (p.Asp301Tyr) rs34324219 0.09123
NM_006363.6(SEC23B):c.1405-7C>T rs2273525 0.09089
NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly) rs3729856 0.09064
NM_002474.3(MYH11):c.3967C>T (p.Leu1323=) rs12907 0.08987
NM_004444.5(EPHB4):c.1422+3A>G rs3857809 0.08906
NM_198253.3(TERT):c.3039C>T (p.His1013=) rs33954691 0.08834
NM_002471.4(MYH6):c.3388G>A (p.Ala1130Thr) rs28730771 0.08821
NM_001204.7(BMPR2):c.2811G>A (p.Arg937=) rs1061157 0.08705
NM_002474.3(MYH11):c.987C>T (p.Thr329=) rs4781689 0.08684
NM_001243133.2(NLRP3):c.1302C>T (p.Ser434=) rs34298354 0.08679
NM_000188.3(HK1):c.2040C>T (p.Thr680=) rs2229387 0.08670
NM_001377229.1(DISP1):c.75G>A (p.Pro25=) rs61746477 0.08631
NM_000552.5(VWF):c.4665A>C (p.Ala1555=) rs1800384 0.08554
NM_000552.5(VWF):c.4693G>T (p.Val1565Leu) rs1800385 0.08527
NM_004985.5(KRAS):c.451-9G>A rs12313763 0.08467
NM_000208.4(INSR):c.2595C>T (p.Asn865=) rs2229431 0.08453
NM_000208.4(INSR):c.2007C>T (p.Phe669=) rs2962 0.08356
NM_000251.3(MSH2):c.2006-6T>C rs2303428 0.08349
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08329
NM_000033.4(ABCD1):c.1548G>A (p.Leu516=) rs41314153 0.08321
NM_003126.4(SPTA1):c.2102G>A (p.Arg701His) rs12090314 0.08273
NM_000432.4(MYL2):c.132T>C (p.Ile44=) rs2301610 0.08171
NM_000435.3(NOTCH3):c.3547G>A (p.Val1183Met) rs10408676 0.08167
NM_004168.4(SDHA):c.1908+15C>T rs34504623 0.08152
NM_000398.7(CYB5R3):c.350C>G (p.Thr117Ser) rs1800457 0.08114
NM_001081.4(CUBN):c.2188C>T (p.His730Tyr) rs7905349 0.08051
NM_000090.4(COL3A1):c.1815+18A>G rs28413125 0.08030
NM_000552.5(VWF):c.2555= (p.Gln852=) rs216321 0.08026
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) rs13337626 0.08017
NM_000193.4(SHH):c.-125G>A rs9333594 0.07860
NM_000218.3(KCNQ1):c.1590+14T>C rs11024034 0.07860
NM_000478.6(ALPL):c.1565T>C (p.Val522Ala) rs34605986 0.07856
NM_002474.3(MYH11):c.5517G>A (p.Ala1839=) rs28505375 0.07791
NM_001999.4(FBN2):c.4718-13T>C rs10044959 0.07765
NM_001199397.3(NEK1):c.1068G>A (p.Arg356=) rs17055010 0.07760
NM_001395413.1(POR):c.6A>G (p.Gly2=) rs10262966 0.07713
NM_001081.4(CUBN):c.8950A>G (p.Ile2984Val) rs1801239 0.07706
NM_001006658.3(CR2):c.3154A>G (p.Ile1052Val) rs17618 0.07668
NM_001605.3(AARS1):c.824G>A (p.Gly275Asp) rs11537667 0.07667
NM_000448.3(RAG1):c.2880A>G (p.Ala960=) rs1980131 0.07643
NM_001024630.4(RUNX2):c.240G>A (p.Ala80=) rs6921145 0.07604
NM_000492.4(CFTR):c.869+11C>T rs1800503 0.07590
NM_021815.5(SLC5A7):c.265A>G (p.Ile89Val) rs1013940 0.07497
NM_004004.6(GJB2):c.-22-12C>T rs9578260 0.07478
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=) rs1800130 0.07467
NM_000179.3(MSH6):c.642C>T (p.Tyr214=) rs1800937 0.07457
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120 0.07445
NM_000435.3(NOTCH3):c.4891+23G>C rs56277836 0.07390
NM_000132.4(F8):c.6769A>G (p.Met2257Val) rs1800297 0.07378
NM_000546.6(TP53):c.97-29C>A rs17883323 0.07310
NM_003640.5(ELP1):c.1574G>A (p.Arg525Gln) rs838827 0.07294
NM_003126.4(SPTA1):c.6549-22A>C rs41273515 0.07257
NM_002474.3(MYH11):c.2208C>T (p.Ile736=) rs12931799 0.07252
NM_003476.5(CSRP3):c.336G>A (p.Ala112=) rs13451 0.07238
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_000245.4(MET):c.534C>T (p.Ser178=) rs35775721 0.07211
NM_001081.4(CUBN):c.5518G>A (p.Gly1840Ser) rs2271462 0.07196
NM_001999.4(FBN2):c.7739C>T (p.Ser2580Leu) rs2291628 0.07011
NM_001999.4(FBN2):c.7013-5T>C rs28763927 0.06995
NM_002471.4(MYH6):c.166G>A (p.Gly56Arg) rs28711516 0.06950
NM_000552.5(VWF):c.3579T>C (p.Pro1193=) rs16933969 0.06947
NM_000091.5(COL4A3):c.1223G>A (p.Arg408His) rs34505188 0.06909
NM_000256.3(MYBPC3):c.472G>A (p.Val158Met) rs3729986 0.06899
NM_000517.6(HBA2):c.-24C>G rs772829778 0.06872
NM_000138.5(FBN1):c.156G>T (p.Ala52=) rs25398 0.06859
NM_000552.5(VWF):c.1626G>A (p.Ala542=) rs35365059 0.06825
NM_006005.3(WFS1):c.2322G>A (p.Lys774=) rs2230721 0.06809
NM_001081.4(CUBN):c.10295C>G (p.Thr3432Ser) rs7898873 0.06787
NM_014000.3(VCL):c.768T>C (p.Asp256=) rs56413529 0.06776
NM_014000.3(VCL):c.339G>A (p.Arg113=) rs56314318 0.06767
NM_000038.6(APC):c.645+32C>T rs2909961 0.06662
NM_001355436.2(SPTB):c.4208G>A (p.Arg1403Gln) rs17180350 0.06645
NM_006506.5(RASA2):c.2519+10T>G rs295324 0.06624
NM_000459.5(TEK):c.1456G>A (p.Val486Ile) rs1334811 0.06507
NM_000169.3(GLA):c.-10C>T rs2071225 0.06441
NM_153717.3(EVC):c.1115C>T (p.Thr372Met) rs28483498 0.06438
NM_002474.3(MYH11):c.2079C>T (p.Phe693=) rs34287137 0.06287
NM_000459.5(TEK):c.1680T>C (p.Asn560=) rs35357088 0.06246
NM_000051.4(ATM):c.378T>A (p.Asp126Glu) rs2234997 0.06244
NM_053025.4(MYLK):c.3253A>G (p.Thr1085Ala) rs75370906 0.06202
NM_000371.4(TTR):c.337-18G>C rs36204272 0.06198
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723 0.06184
NM_001498.4(GCLC):c.-594C>T rs17883901 0.06174
NM_002474.3(MYH11):c.2061C>T (p.Ser687=) rs880071 0.06148
NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile) rs5743291 0.06122
NM_001035.3(RYR2):c.5656G>A (p.Gly1886Ser) rs3766871 0.06110
NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu) rs57611801 0.06070
NM_000552.5(VWF):c.6554G>A (p.Arg2185Gln) rs2229446 0.06069
NM_001355436.2(SPTB):c.4003-12T>C rs78707026 0.06057
NM_004239.4(TRIP11):c.115A>T (p.Met39Leu) rs17127898 0.06056
NM_001355436.2(SPTB):c.408C>T (p.His136=) rs11623956 0.06031
NM_001355436.2(SPTB):c.4222G>C (p.Gly1408Arg) rs17245552 0.06024
NM_000188.3(HK1):c.2691C>T (p.Ser897=) rs14006 0.05973
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194 0.05969
NM_001355436.2(SPTB):c.4818C>T (p.Tyr1606=) rs4899145 0.05960
NM_017654.4(SAMD9):c.1436C>T (p.Thr479Met) rs78564070 0.05927
NM_001355436.2(SPTB):c.4564-4G>A rs4902312 0.05860
NM_001355436.2(SPTB):c.4779A>G (p.Ala1593=) rs4902310 0.05857
NM_001199397.3(NEK1):c.1830A>G (p.Glu610=) rs17544885 0.05849
NM_000540.3(RYR1):c.9690G>A (p.Leu3230=) rs2304151 0.05835
NM_001355436.2(SPTB):c.4752C>T (p.Asn1584=) rs4902311 0.05828
NM_001081.4(CUBN):c.5304C>T (p.Ile1768=) rs61841454 0.05795
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850 0.05782
NM_001355436.2(SPTB):c.5535C>T (p.Leu1845=) rs17180252 0.05745
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323 0.05742
NM_001142864.4(PIEZO1):c.2790+10A>G rs73266607 0.05712
NM_001142864.4(PIEZO1):c.2991+12A>G rs112680298 0.05710
NM_000552.5(VWF):c.2220G>A (p.Met740Ile) rs2228317 0.05696
NM_017654.4(SAMD9):c.1346A>G (p.Asn449Ser) rs10239435 0.05657
NM_006231.4(POLE):c.4444+4T>A rs5744941 0.05640
NM_000245.4(MET):c.1131C>T (p.Ile377=) rs28444388 0.05590
NM_003126.4(SPTA1):c.6046C>T (p.Arg2016Cys) rs78394850 0.05585
NM_020779.4(WDR35):c.2599G>A (p.Ala867Thr) rs2293669 0.05563
NM_003126.4(SPTA1):c.5992G>C (p.Ala1998Pro) rs77877855 0.05556
NM_000249.4(MLH1):c.1558+14G>A rs41562513 0.05554
NM_019076.5(UGT1A8):c.856-73403G>T rs17863783 0.05548
NM_003126.4(SPTA1):c.6112C>T (p.Leu2038=) rs75931146 0.05545
NM_003126.4(SPTA1):c.5507A>G (p.Asn1836Ser) rs16830483 0.05541
NM_014208.3(DSPP):c.3708C>T (p.Asp1236=) rs111884410 0.05517
NM_000431.4(MVK):c.371+8C>T rs67886029 0.05513
NM_001110556.2(FLNA):c.6642G>C (p.Val2214=) rs1064822 0.05512
NM_018979.4(WNK1):c.1994C>T (p.Thr665Ile) rs2286007 0.05498
NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys) rs79241126 0.05477
NM_001844.5(COL2A1):c.3991G>A (p.Val1331Ile) rs12721427 0.05396
NM_004006.3(DMD):c.4234-13A>G rs41303181 0.05327
NM_170707.4(LMNA):c.810+13G>T rs11264444 0.05317
NM_000371.4(TTR):c.76G>A (p.Gly26Ser) rs1800458 0.05309
NM_000431.4(MVK):c.405G>A (p.Ser135=) rs34368092 0.05306
NM_147127.5(EVC2):c.3253C>T (p.Leu1085=) rs112554914 0.05240
NM_000342.4(SLC4A1):c.1323G>A (p.Leu441=) rs5017 0.05230
NM_001142864.4(PIEZO1):c.2361G>C (p.Arg787=) rs9928479 0.05227
NM_005428.4(VAV1):c.2216C>T (p.Thr739Met) rs36097961 0.05202
NM_001199397.3(NEK1):c.1876G>A (p.Ala626Thr) rs33933790 0.05183
NM_001844.5(COL2A1):c.2094+7A>G rs17801742 0.05167
NM_001844.5(COL2A1):c.1836T>C (p.Gly612=) rs41317939 0.05124
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690 0.05059
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu) rs5036 0.05002
NM_006005.3(WFS1):c.1367G>A (p.Arg456His) rs1801208 0.04977
NM_000552.5(VWF):c.1945+24C>T rs61908661 0.04957
NM_005529.7(HSPG2):c.10248C>T (p.Ser3416=) rs41310390 0.04950
NM_000350.3(ABCA4):c.635G>A (p.Arg212His) rs6657239 0.04939
NM_005529.7(HSPG2):c.12994G>A (p.Val4332Ile) rs1138469 0.04935
NM_000552.5(VWF):c.3258C>T (p.Tyr1086=) rs112634786 0.04897
NM_000321.3(RB1):c.1390-14A>T rs9535023 0.04866
NM_000558.5(HBA1):c.-24C>G rs374054030 0.04854
NM_000249.4(MLH1):c.1410-54C>T rs7633154 0.04850
NM_000548.5(TSC2):c.1578C>T (p.Ser526=) rs34012042 0.04830
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410 0.04825
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) rs3219484 0.04794
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe) rs41277200 0.04760
NM_001151.4(SLC25A4):c.-25G>A rs3733652 0.04735
NM_001379610.1(SPINK1):c.*32C>T rs11319 0.04721
NM_000540.3(RYR1):c.4024A>G (p.Ser1342Gly) rs34694816 0.04715
NM_000188.3(HK1):c.*6C>T rs13139 0.04711
NM_001754.5(RUNX1):c.1389C>G (p.Pro463=) rs61750222 0.04709
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922 0.04708
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_032638.5(GATA2):c.564G>C (p.Thr188=) rs34870876 0.04681
NM_002661.5(PLCG2):c.802C>T (p.Arg268Trp) rs1143687 0.04677
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405 0.04656
NM_006206.6(PDGFRA):c.368-3C>T rs55947416 0.04647
NM_001354897.2(APC):c.-245A>C rs75580617 0.04642
NM_021830.5(TWNK):c.1102G>A (p.Val368Ile) rs17113613 0.04615
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314 0.04612
NM_053025.4(MYLK):c.3027G>A (p.Glu1009=) rs12172926 0.04612
NM_003001.5(SDHC):c.77+36T>A rs117507008 0.04608
NM_000112.4(SLC26A2):c.*4982A>G rs74589369 0.04589
NM_000112.4(SLC26A2):c.*1892dup rs148778566 0.04587
NM_000112.4(SLC26A2):c.*3670G>A rs76262875 0.04581
NM_000719.7(CACNA1C):c.5292C>T (p.Asn1764=) rs72552065 0.04512
NM_000540.3(RYR1):c.10687-10C>T rs77592501 0.04475
NM_001355436.2(SPTB):c.177C>T (p.Thr59=) rs2277503 0.04465
NM_000208.4(INSR):c.2267+17C>T rs41509747 0.04450
NM_001379610.1(SPINK1):c.174C>T (p.Cys58=) rs35737774 0.04434
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335 0.04399
NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn) rs58022607 0.04393
NM_000535.7(PMS2):c.2006+6G>A rs111905775 0.04390
NM_001365536.1(SCN9A):c.1155G>T (p.Val385=) rs58465962 0.04390
NM_206933.4(USH2A):c.11907A>T (p.Pro3969=) rs61635304 0.04389
NM_001844.5(COL2A1):c.4068C>T (p.Gly1356=) rs17122498 0.04377
NM_000492.4(CFTR):c.-8G>C rs1800501 0.04368
NM_005343.4(HRAS):c.111+15G>A rs41258054 0.04363
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944 0.04357
NM_003482.4(KMT2D):c.2438C>T (p.Pro813Leu) rs75226229 0.04312
NM_002474.3(MYH11):c.135C>T (p.Phe45=) rs28570191 0.04299
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln) rs45559835 0.04292
NM_001142864.4(PIEZO1):c.5505G>A (p.Ala1835=) rs2290899 0.04287
NM_001142864.4(PIEZO1):c.6288G>A (p.Lys2096=) rs2290900 0.04279
NM_000112.4(SLC26A2):c.*2226C>T rs7722454 0.04260
NM_005529.7(HSPG2):c.10918G>A (p.Val3640Ile) rs17459097 0.04258
NM_004999.4(MYO6):c.1722C>T (p.Asp574=) rs11756446 0.04242
NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile) rs41309927 0.04225
NM_032119.4(ADGRV1):c.18475A>G (p.Met6159Val) rs77469944 0.04185
NM_206933.4(USH2A):c.9296A>G (p.Asn3099Ser) rs41277194 0.04165
NM_001457.4(FLNB):c.1611-4G>A rs73074072 0.04164
NM_002834.5(PTPN11):c.1093-9C>A rs12301915 0.04151
NM_000022.4(ADA):c.390G>A (p.Val130=) rs61737144 0.04145
NC_000016.10:g.177694A>G rs76462751 0.04097
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=) rs2272727 0.04082
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204 0.04081
NM_206933.4(USH2A):c.6587G>C (p.Ser2196Thr) rs79444516 0.04057
NM_014208.3(DSPP):c.727G>A (p.Asp243Asn) rs3750025 0.04053
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893 0.04049
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140 0.04021
NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr) rs112723255 0.04015
NM_007194.4(CHEK2):c.252A>G (p.Glu84=) rs1805129 0.04009
NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln) rs2274976 0.03996
NM_000454.4(SOD1):c.-109A>G rs7277748 0.03982
NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala) rs16967510 0.03954
NM_000535.7(PMS2):c.288C>T (p.Ala96=) rs12532895 0.03944
NM_001142864.4(PIEZO1):c.1674C>T (p.Pro558=) rs115016757 0.03911
NM_004360.5(CDH1):c.531+10G>C rs33963999 0.03907
NM_002485.5(NBN):c.703-18G>A rs769418 0.03898
NM_001142864.4(PIEZO1):c.6660+17C>T rs79934624 0.03873
NM_000133.4(F9):c.391+7A>G rs6049 0.03872
NM_004360.5(CDH1):c.2253C>T (p.Asn751=) rs33964119 0.03869
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_001035.3(RYR2):c.13564-41A>G rs114289907 0.03849
NM_005529.7(HSPG2):c.8939T>A (p.Leu2980His) rs2229489 0.03837
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile) rs41281334 0.03832
NM_015512.5(DNAH1):c.11230C>T (p.Arg3744Cys) rs419752 0.03813
NM_005633.4(SOS1):c.195A>C (p.Arg65=) rs7609455 0.03809
NM_001377229.1(DISP1):c.3781G>A (p.Val1261Met) rs61746480 0.03798
NM_020975.6(RET):c.2508C>T (p.Ser836=) rs1800862 0.03791
NM_000552.5(VWF):c.3795G>A (p.Pro1265=) rs2228319 0.03767
NM_001844.5(COL2A1):c.426A>T (p.Glu142Asp) rs34392760 0.03719
NM_000463.3(UGT1A1):c.996+18C>T rs34650714 0.03716
NM_001753.5(CAV1):c.156C>T (p.Val52=) rs10029 0.03703
NM_000059.4(BRCA2):c.2229T>C (p.His743=) rs1801499 0.03698
NM_000059.4(BRCA2):c.865A>C (p.Asn289His) rs766173 0.03693
NM_001142864.4(PIEZO1):c.1013C>A (p.Ser338Tyr) rs112081600 0.03693
NM_001243133.2(NLRP3):c.-40G>T rs73136263 0.03689
NM_000059.4(BRCA2):c.1365A>G (p.Ser455=) rs1801439 0.03688
NM_000492.4(CFTR):c.743+40A>G rs1800502 0.03675
NM_000552.5(VWF):c.4138A>G (p.Ile1380Val) rs11063988 0.03649
NM_020779.4(WDR35):c.549C>T (p.Tyr183=) rs34169020 0.03645
NM_015512.5(DNAH1):c.1321G>C (p.Val441Leu) rs13060192 0.03637
NM_000384.3(APOB):c.11904-7C>T rs12720851 0.03622
NM_017668.3(NDE1):c.948-5739G>A rs34839877 0.03595
NM_005343.4(HRAS):c.-10C>T rs41294870 0.03593
NM_000552.5(VWF):c.2451T>A (p.His817Gln) rs57950734 0.03591
NM_001267550.2(TTN):c.48996G>A (p.Glu16332=) rs72677244 0.03561
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_152703.5(SAMD9L):c.3410G>C (p.Gly1137Ala) rs17165111 0.03553
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902 0.03505
NM_003126.4(SPTA1):c.454G>A (p.Asp152Asn) rs16840544 0.03495
NM_003126.4(SPTA1):c.867T>C (p.Ser289=) rs12083637 0.03494
NM_153676.4(USH1C):c.1770C>T (p.Ala590=) rs17776775 0.03494
NM_000069.3(CACNA1S):c.206C>G (p.Ala69Gly) rs12406479 0.03481
NM_000454.5(SOD1):c.73-108T>A rs16988404 0.03480
NM_020919.4(ALS2):c.280A>G (p.Ile94Val) rs3219154 0.03476
NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser) rs3742030 0.03470
NM_001365951.3(KIF1B):c.3423-15del rs3215996 0.03458
NM_000552.5(VWF):c.4304A>G (p.Asn1435Ser) rs11063987 0.03448
NM_001355436.2(SPTB):c.4121A>G (p.His1374Arg) rs10132778 0.03447
NM_003924.4(PHOX2B):c.762A>C (p.Ala254=) rs17884724 0.03446
NM_003126.4(SPTA1):c.2909C>A (p.Ala970Asp) rs35948326 0.03419
NM_000245.4(MET):c.144G>A (p.Ala48=) rs11762213 0.03399
NM_001360016.2(G6PD):c.1116G>A (p.Gln372=) rs2230036 0.03373
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp) rs1800430 0.03370
NM_004360.5(CDH1):c.48+5C>G rs77312180 0.03370
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675 0.03359
NM_000257.4(MYH7):c.1605A>G (p.Glu535=) rs2069543 0.03319
NM_000256.3(MYBPC3):c.2737+12C>T rs3729936 0.03309
NM_018006.5(TRMU):c.1192C>T (p.Arg398Cys) rs34152016 0.03308
NM_000536.4(RAG2):c.878A>G (p.Glu293Gly) rs16929093 0.03307
NM_001999.4(FBN2):c.203C>T (p.Ala68Val) rs62390671 0.03303
NM_182916.3(TRNT1):c.133C>T (p.Leu45=) rs75033443 0.03301
NM_005529.7(HSPG2):c.12558C>T (p.Ser4186=) rs11552570 0.03296
NM_002473.6(MYH9):c.3345A>G (p.Glu1115=) rs875725 0.03292
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) rs35829419 0.03262
NM_001062.4(TCN1):c.104G>A (p.Arg35His) rs34528912 0.03247
NM_003924.4(PHOX2B):c.870C>A (p.Pro290=) rs17885864 0.03243
NM_006363.6(SEC23B):c.2061G>T (p.Leu687=) rs7262532 0.03235
NM_177965.4(CFAP418):c.55C>G (p.Pro19Ala) rs36096184 0.03219
NM_000540.3(RYR1):c.9555-13C>T rs2960328 0.03214
NM_004208.4(AIFM1):c.918C>T (p.Ile306=) rs12014115 0.03205
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889 0.03196
NM_000051.4(ATM):c.1899-55T>G rs4987951 0.03178
NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln) rs41265017 0.03176
NM_000093.5(COL5A1):c.2892C>T (p.Gly964=) rs78511105 0.03168
NM_005548.3(KARS1):c.1079-7C>T rs16941301 0.03165
NM_000143.4(FH):c.1302C>T (p.Cys434=) rs2070080 0.03163
NM_000435.3(NOTCH3):c.6438G>A (p.Ala2146=) rs1044008 0.03162
NM_012330.4(KAT6B):c.4278C>T (p.Ala1426=) rs3740322 0.03160
NM_001379610.1(SPINK1):c.194+90A>T rs112569673 0.03151
NM_012330.4(KAT6B):c.4495G>A (p.Val1499Ile) rs3740321 0.03151
NM_003126.4(SPTA1):c.2870C>T (p.Ala957Val) rs34706737 0.03142
NM_001379610.1(SPINK1):c.36G>C (p.Leu12Phe) rs35877720 0.03139
NM_000142.5(FGFR3):c.588C>T (p.Arg196=) rs2305180 0.03125
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045 0.03116
NM_001291867.2(NHS):c.211C>T (p.Pro71Ser) rs398124605 0.03116
NM_000540.3(RYR1):c.2871-5C>T rs45585535 0.03110
NM_001243156.2(TAF1C):c.*1082A>G rs2288024 0.03108
NM_017654.4(SAMD9):c.1360G>A (p.Ala454Thr) rs117649834 0.03101
NM_003126.4(SPTA1):c.390+17T>C rs116107257 0.03100
NM_032119.4(ADGRV1):c.13232-7A>G rs2438358 0.03097
NM_000335.5(SCN5A):c.100C>T (p.Arg34Cys) rs6791924 0.03086
NM_017780.4(CHD7):c.6135G>A (p.Pro2045=) rs6999971 0.03071
NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=) rs17541158 0.03068
NM_000260.4(MYO7A):c.6063G>A (p.Lys2021=) rs111033209 0.03064
NM_000342.4(SLC4A1):c.1249C>T (p.Leu417=) rs5015 0.03061
NM_004208.4(AIFM1):c.996A>G (p.Gln332=) rs12007545 0.03061
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428 0.03048
NM_000447.3(PSEN2):c.708T>C (p.Ser236=) rs61730652 0.03044
NM_001142864.4(PIEZO1):c.3456-11C>T rs77276858 0.03009
NM_002474.3(MYH11):c.792T>C (p.Tyr264=) rs34341838 0.03006
NM_006070.6(TFG):c.722-8G>T rs41272979 0.02999
NM_000038.6(APC):c.7704A>G (p.Gly2568=) rs35043160 0.02992
NM_024312.5(GNPTAB):c.3602+8C>A rs79493678 0.02992
NM_000316.3(PTH1R):c.543+14T>C rs114449768 0.02990
NM_002693.3(POLG):c.2958C>T (p.Tyr986=) rs2307431 0.02985
NM_000342.4(SLC4A1):c.2584G>A (p.Val862Ile) rs5026 0.02980
NM_004006.3(DMD):c.8734A>G (p.Asn2912Asp) rs1800278 0.02976
NM_003242.6(TGFBR2):c.1266A>G (p.Ala422=) rs2228047 0.02974
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581 0.02951
NM_000292.3(PHKA2):c.2361-12A>C rs148877451 0.02944
NM_005026.5(PIK3CD):c.886G>A (p.Val296Ile) rs28730668 0.02942
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) rs2066844 0.02936
NM_005257.6(GATA6):c.1302+20C>T rs56314574 0.02932
NM_001035.3(RYR2):c.1776A>T (p.Gly592=) rs72549414 0.02926
NM_002661.5(PLCG2):c.2054+7G>A rs138158454 0.02918
NM_001498.4(GCLC):c.234G>T (p.Leu78=) rs2066508 0.02913
NM_144997.7(FLCN):c.726A>T (p.Thr242=) rs113938514 0.02907
NM_001148.6(ANK2):c.3510A>G (p.Val1170=) rs35336373 0.02906
NM_001972.4(ELANE):c.390C>T (p.Asn130=) rs17223045 0.02903
NM_000384.3(APOB):c.10737C>T (p.Thr3579=) rs12713554 0.02896
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126 0.02895
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val) rs2230720 0.02889
NM_004168.4(SDHA):c.113A>T (p.Asp38Val) rs34635677 0.02888
NM_001267550.2(TTN):c.32393-12A>G rs16866434 0.02884
NM_018419.3(SOX18):c.801G>A (p.Ala267=) rs183578654 0.02878
NM_000143.4(FH):c.309C>T (p.Ala103=) rs10926501 0.02876
NM_001927.4(DES):c.669T>C (p.Ile223=) rs75882680 0.02876
NM_004006.3(DMD):c.8729A>T (p.Glu2910Val) rs41305353 0.02876
NM_017617.5(NOTCH1):c.7233A>G (p.Pro2411=) rs11574911 0.02871
NM_002473.6(MYH9):c.3100+11G>C rs41279999 0.02869
NM_000091.5(COL4A3):c.805G>A (p.Glu269Lys) rs80109666 0.02845
NM_181523.3(PIK3R1):c.621T>C (p.Ile207=) rs61749601 0.02836
NM_018006.5(TRMU):c.927C>T (p.Arg309=) rs9627420 0.02832
NM_001244008.2(KIF1A):c.2977+13C>T rs116600932 0.02829
NM_033100.4(CDHR1):c.728C>T (p.Ala243Val) rs7086200 0.02804
NM_024009.3(GJB3):c.598G>A (p.Val200Ile) rs61734064 0.02803
NM_024009.3(GJB3):c.477G>A (p.Pro159=) rs61732640 0.02796
NM_004444.5(EPHB4):c.489G>A (p.Thr163=) rs61130921 0.02793
NM_033100.4(CDHR1):c.486G>C (p.Arg162Ser) rs74145715 0.02792
NM_004563.4(PCK2):c.372T>C (p.Pro124=) rs2229661 0.02789
NM_153717.3(EVC):c.939+11G>T rs55955937 0.02788
NM_001711.6(BGN):c.910-18C>T rs55934508 0.02787
NM_001370259.2(MEN1):c.435C>T (p.Ser145=) rs61736636 0.02784
NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp) rs1800273 0.02767
NM_001145809.2(MYH14):c.2041G>C (p.Gly681Arg) rs75915336 0.02765
NM_002691.4(POLD1):c.1173C>T (p.Asp391=) rs2230244 0.02764
NM_194248.3(OTOF):c.158C>T (p.Ala53Val) rs1879761 0.02762
NM_000138.5(FBN1):c.6855T>C (p.Asp2285=) rs363836 0.02755
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_004006.3(DMD):c.4162T>G (p.Phe1388Val) rs28715870 0.02748
NM_001457.4(FLNB):c.792C>T (p.Ile264=) rs7623314 0.02745
NM_194248.3(OTOF):c.1926C>T (p.Asn642=) rs72853741 0.02727
NM_018006.5(TRMU):c.249-19T>A rs57347693 0.02724
NM_002661.5(PLCG2):c.731A>G (p.His244Arg) rs11548656 0.02717
NM_001291303.3(FAT4):c.11820A>G (p.Ser3940=) rs17009721 0.02714
NM_000435.3(NOTCH3):c.6221C>T (p.Pro2074Leu) rs114447350 0.02709
NM_005413.4(SIX3):c.576C>T (p.Arg192=) rs182881 0.02708
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_000435.3(NOTCH3):c.6753C>T (p.Ser2251=) rs61731975 0.02703
NM_000093.5(COL5A1):c.4230+6G>A rs77176843 0.02700
NM_021625.5(TRPV4):c.2459-9T>G rs115373018 0.02700
NM_000342.4(SLC4A1):c.113A>C (p.Asp38Ala) rs5035 0.02695
NM_005257.6(GATA6):c.851C>G (p.Ala284Gly) rs185325359 0.02672
NM_006231.4(POLE):c.3379-5T>C rs5744886 0.02670
NM_147127.5(EVC2):c.1059C>T (p.Gly353=) rs77793386 0.02666
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693 0.02655
NM_001366110.1(PAX4):c.421C>T (p.Arg141Trp) rs2233578 0.02654
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671 0.02649
NM_001042702.5(PJVK):c.874G>A (p.Gly292Arg) rs79399438 0.02648
NM_002471.4(MYH6):c.4527G>A (p.Glu1509=) rs34855944 0.02632
NM_014251.3(SLC25A13):c.1884C>T (p.Asn628=) rs35539807 0.02629
NM_020631.6(PLEKHG5):c.2576G>A (p.Arg859His) rs61737997 0.02621
NM_002661.5(PLCG2):c.770A>T (p.His257Leu) rs45443101 0.02615
NM_001083603.1(PTCH1):c.163G>C (p.Asp55His) rs73527759 0.02608
NM_004415.4(DSP):c.1903+7T>C rs28763962 0.02605
NM_006218.4(PIK3CA):c.1060-18C>A rs3729677 0.02605
NM_000554.6(CRX):c.472G>A (p.Ala158Thr) rs61748445 0.02598
NM_001540.5(HSPB1):c.*11C>T rs1058872 0.02598
NM_000321.3(RB1):c.1216-29A>G rs3092886 0.02593
NM_005142.3(CBLIF):c.764A>G (p.Asn255Ser) rs35867471 0.02593
NM_020297.4(ABCC9):c.2424+9T>C rs11835804 0.02576
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=) rs77293072 0.02574
NM_000283.4(PDE6B):c.143G>A (p.Arg48Gln) rs113842820 0.02573
NM_002691.4(POLD1):c.463+9C>T rs1673046 0.02570
NM_000283.4(PDE6B):c.373C>G (p.Pro125Ala) rs28414606 0.02568
NM_000283.4(PDE6B):c.384C>T (p.Ser128=) rs28510278 0.02567
NM_001142864.4(PIEZO1):c.6390G>A (p.Thr2130=) rs34679131 0.02567
NM_004006.3(DMD):c.2623-11C>G rs1028360 0.02567
NM_022114.4(PRDM16):c.1113C>T (p.Cys371=) rs61745281 0.02560
NM_021625.5(TRPV4):c.81T>C (p.Gly27=) rs34599967 0.02557
NM_004563.4(PCK2):c.1230A>G (p.Lys410=) rs2301336 0.02556
NM_000093.5(COL5A1):c.4393-9C>T rs11792181 0.02555
NM_015512.5(DNAH1):c.5787G>A (p.Ser1929=) rs61738524 0.02555
NM_024334.3(TMEM43):c.163-14C>T rs113745859 0.02553
NM_001110556.2(FLNA):c.7224C>T (p.Gly2408=) rs12008807 0.02548
NM_000435.3(NOTCH3):c.1140T>C (p.Pro380=) rs61749020 0.02545
NM_001035.3(RYR2):c.8437-7dup rs148246251 0.02544
NM_000051.4(ATM):c.1254A>G (p.Gln418=) rs4987943 0.02542
NM_015512.5(DNAH1):c.4504G>A (p.Val1502Met) rs17052095 0.02539
NM_003242.6(TGFBR2):c.999A>G (p.Leu333=) rs2229102 0.02537
NM_001042492.3(NF1):c.2544G>A (p.Gly848=) rs17883704 0.02535
NM_000093.5(COL5A1):c.2724G>A (p.Pro908=) rs41310207 0.02534
NM_000459.5(TEK):c.2170G>A (p.Ala724Thr) rs4631561 0.02531
NM_182925.5(FLT4):c.1580A>G (p.Asn527Ser) rs35874891 0.02531
NM_003000.3(SDHB):c.200+35G>A rs61769190 0.02530
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu) rs72648986 0.02522
NM_000260.4(MYO7A):c.6240C>T (p.Ser2080=) rs41298757 0.02519
NM_020631.6(PLEKHG5):c.2827G>C (p.Gly943Arg) rs114619322 0.02505
NM_001999.4(FBN2):c.8733C>G (p.Leu2911=) rs34383505 0.02500
NM_194248.3(OTOF):c.5097C>T (p.Ile1699=) rs12386239 0.02496
NM_000484.4(APP):c.1614T>C (p.Tyr538=) rs45537238 0.02492
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_182925.5(FLT4):c.3959G>A (p.Arg1320Gln) rs115824945 0.02490
NM_000051.4(ATM):c.8786+8A>C rs4986839 0.02488
NM_017636.4(TRPM4):c.1050+13_1050+16dup rs137898843 0.02485
NM_001081.4(CUBN):c.8635C>A (p.Leu2879Ile) rs1801238 0.02483
NM_014249.4(NR2E3):c.488T>C (p.Met163Thr) rs1805021 0.02481
NM_053025.4(MYLK):c.4194C>T (p.His1398=) rs17298941 0.02481
NM_002335.4(LRP5):c.4000+10T>A rs116068042 0.02476
NM_005159.5(ACTC1):c.927T>C (p.Pro309=) rs2307493 0.02473
NM_001291303.3(FAT4):c.12852C>T (p.Ser4284=) rs17009819 0.02466
NM_145038.5(DRC1):c.172T>C (p.Tyr58His) rs74936036 0.02464
NM_001377229.1(DISP1):c.3487A>G (p.Ser1163Gly) rs61743732 0.02461
NM_133259.4(LRPPRC):c.41C>G (p.Ala14Gly) rs114205971 0.02459
NM_004239.4(TRIP11):c.4812T>C (p.Asp1604=) rs17127837 0.02457
NM_015915.5(ATL1):c.705C>T (p.Phe235=) rs35044504 0.02457
NM_003126.4(SPTA1):c.5388G>A (p.Gln1796=) rs61140046 0.02445
NM_174936.4(PCSK9):c.705C>T (p.Ser235=) rs7552471 0.02435
NM_000441.2(SLC26A4):c.1708-18T>A rs55701254 0.02432
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr) rs35683768 0.02431
NM_000143.4(FH):c.927G>A (p.Pro309=) rs61737760 0.02428
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=) rs28763943 0.02427
NM_012472.6(DNAAF11):c.283C>T (p.Leu95=) rs74599901 0.02427
NM_001360016.2(G6PD):c.1431C>T (p.Pro477=) rs77214077 0.02424
NM_003482.4(KMT2D):c.248G>A (p.Arg83Gln) rs55865069 0.02422
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=) rs363830 0.02418
NM_001854.4(COL11A1):c.1872A>G (p.Pro624=) rs111841420 0.02418
NM_001005361.3(DNM2):c.1077C>T (p.Gly359=) rs112238216 0.02416
NM_130837.3(OPA1):c.629C>T (p.Ala210Val) rs34307082 0.02411
NM_001370259.2(MEN1):c.1299= (p.His433=) rs540012 0.02405
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040 0.02403
NM_000151.4(G6PC1):c.432G>A (p.Pro144=) rs161628 0.02402
NM_000157.4(GBA1):c.38A>G (p.Lys13Arg) rs150466109 0.02394
NM_000540.3(RYR1):c.1577-6C>G rs61586345 0.02394
NM_182925.5(FLT4):c.633A>G (p.Gly211=) rs34117331 0.02393
NM_003923.3(FOXH1):c.373A>T (p.Thr125Ser) rs112028242 0.02391
NM_014249.4(NR2E3):c.419A>G (p.Glu140Gly) rs1805020 0.02391
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459 0.02390
NM_001267550.2(TTN):c.45526C>T (p.Leu15176=) rs61004744 0.02387
NM_000260.4(MYO7A):c.4589C>T (p.Ser1530Leu) rs111033183 0.02384
NM_004656.4(BAP1):c.1786A>G (p.Ser596Gly) rs79014342 0.02383
NM_001142864.4(PIEZO1):c.588G>T (p.Leu196=) rs142099589 0.02381
NM_206933.4(USH2A):c.15377T>C (p.Ile5126Thr) rs111033266 0.02380
NM_000260.4(MYO7A):c.3828G>A (p.Ser1276=) rs78871677 0.02377
NM_032119.4(ADGRV1):c.327C>T (p.Asp109=) rs61753944 0.02377
NM_000093.5(COL5A1):c.1935+8T>G rs79195626 0.02373
NM_022489.4(INF2):c.2322C>T (p.Thr774=) rs59751492 0.02373
NM_001267550.2(TTN):c.22786G>C (p.Asp7596His) rs72648970 0.02369
NM_001142864.4(PIEZO1):c.1196-17G>A rs79917859 0.02365
NM_001148.6(ANK2):c.3796+18G>A rs66792339 0.02360
NM_032119.4(ADGRV1):c.8876G>A (p.Arg2959Gln) rs73175207 0.02358
NM_001267550.2(TTN):c.52917T>C (p.Asp17639=) rs73036398 0.02352
NM_001457.4(FLNB):c.3535G>A (p.Glu1179Lys) rs17058845 0.02351
NM_001035.3(RYR2):c.9449+8T>A rs60777199 0.02348
NM_006231.4(POLE):c.3126G>A (p.Lys1042=) rs5744856 0.02344
NM_001291303.3(FAT4):c.11488A>G (p.Lys3830Glu) rs17009684 0.02342
NM_021625.5(TRPV4):c.854-5C>T rs116401333 0.02337
NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr) rs41311343 0.02332
NM_133379.5(TTN):c.13476C>T (p.Asp4492=) rs72648904 0.02326
NM_000138.5(FBN1):c.7819+8A>C rs363838 0.02324
NM_001110556.2(FLNA):c.1968C>T (p.Leu656=) rs73638274 0.02319
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02317
NM_002473.6(MYH9):c.3838-8C>T rs145429636 0.02315
NM_001048174.2(MUTYH):c.115+30A>G rs3219485 0.02310
NM_032119.4(ADGRV1):c.5346A>G (p.Gly1782=) rs10067298 0.02309
NM_000535.7(PMS2):c.1488C>T (p.His496=) rs1805320 0.02307
NM_000188.3(HK1):c.480A>G (p.Gln160=) rs2228284 0.02306
NM_001374353.1(GLI2):c.1893C>T (p.Thr631=) rs13008360 0.02306
NC_000012.12:g.6125718G>A rs151088025 0.02305
NM_000455.5(STK11):c.264C>A (p.Ile88=) rs56354945 0.02303
NM_003126.4(SPTA1):c.958-10C>A rs12085628 0.02300
NM_000384.3(APOB):c.8148C>T (p.Ile2716=) rs6413458 0.02288
NM_000173.7(GP1BA):c.774C>T (p.Asn258=) rs6066 0.02286
NM_001204.7(BMPR2):c.2324G>A (p.Ser775Asn) rs2228545 0.02286
NM_000142.5(FGFR3):c.615+8C>G rs17878375 0.02283
NM_024426.6(WT1):c.662-1928_662-1927del rs71873106 0.02282
NM_000182.5(HADHA):c.1392+10G>A rs60085478 0.02277
NM_002834.5(PTPN11):c.255C>T (p.His85=) rs61736914 0.02271
NM_001042492.3(NF1):c.4882T>C (p.Leu1628=) rs10512435 0.02270
NM_001081.4(CUBN):c.196G>A (p.Gly66Arg) rs12259370 0.02267
NM_001365536.1(SCN9A):c.3802-8T>C rs76550960 0.02262
NM_001844.5(COL2A1):c.*4C>T rs41272773 0.02262
NM_005026.5(PIK3CD):c.1522-19T>C rs77571929 0.02260
NM_198253.3(TERT):c.835G>A (p.Ala279Thr) rs61748181 0.02258
NM_001943.5(DSG2):c.524-9T>A rs11876289 0.02255
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=) rs35534817 0.02253
NM_001267550.2(TTN):c.26991A>G (p.Thr8997=) rs61232800 0.02248
NM_001382430.1(AKT1):c.558C>T (p.Ile186=) rs34670300 0.02248
NM_003126.4(SPTA1):c.2418G>A (p.Glu806=) rs35318623 0.02245
NM_000141.5(FGFR2):c.1941C>T (p.Leu647=) rs35337478 0.02240
NM_014874.4(MFN2):c.159C>T (p.Ser53=) rs61733200 0.02240
NM_004563.4(PCK2):c.6C>T (p.Ala2=) rs77298044 0.02238
NM_005257.6(GATA6):c.43G>C (p.Gly15Arg) rs116262672 0.02238
NM_015340.4(LARS2):c.972C>A (p.His324Gln) rs71645922 0.02237
NM_000541.5(SAG):c.201C>T (p.Cys67=) rs72976383 0.02235
NM_017636.4(TRPM4):c.267+14C>G rs113040724 0.02235
NM_032119.4(ADGRV1):c.7229A>G (p.Tyr2410Cys) rs111033430 0.02235
NM_000337.6(SGCD):c.700-19T>C rs80086857 0.02231
NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn) rs138579182 0.02227
NM_001844.5(COL2A1):c.3328-20G>T rs73297150 0.02225
NM_024009.3(GJB3):c.567C>T (p.Tyr189=) rs61732307 0.02220
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02218
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=) rs11551373 0.02216
NM_000552.5(VWF):c.7997C>T (p.Thr2666Met) rs78353028 0.02215
NM_003126.4(SPTA1):c.3693C>T (p.Asp1231=) rs34773716 0.02215
NM_001365536.1(SCN9A):c.3362G>A (p.Arg1121Gln) rs74401238 0.02210
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_170707.4(LMNA):c.1158-43A>G rs16837198 0.02198
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys) rs1140064 0.02197
NM_004006.3(DMD):c.8762A>G (p.His2921Arg) rs1800279 0.02191
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile) rs116605521 0.02188
NM_000335.5(SCN5A):c.2263-18T>C rs9835588 0.02184
NM_000051.4(ATM):c.5497-8T>C rs3092829 0.02183
NM_000260.4(MYO7A):c.288G>A (p.Thr96=) rs56023295 0.02179
NM_001006658.3(CR2):c.1617C>T (p.Thr539=) rs34349246 0.02179
NM_001032283.3(TMPO):c.565+1665A>G rs11838270 0.02179
NM_024009.3(GJB3):c.94C>T (p.Arg32Trp) rs1805063 0.02177
NM_000384.3(APOB):c.10701G>A (p.Thr3567=) rs12713558 0.02176
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007 0.02174
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440 0.02171
NM_000256.3(MYBPC3):c.492C>T (p.Gly164=) rs3218719 0.02170
NM_020631.6(PLEKHG5):c.-88+6188G>A rs577217925 0.02161
NM_000371.4(TTR):c.*21C>A rs12226 0.02158
NM_001267550.2(TTN):c.15717G>A (p.Thr5239=) rs72648932 0.02158
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) rs3092856 0.02156
NM_000448.3(RAG1):c.906C>A (p.Asp302Glu) rs4151030 0.02153
NM_005026.5(PIK3CD):c.1689+20T>C rs181919452 0.02153
NM_005422.4(TECTA):c.3012C>G (p.Thr1004=) rs61291716 0.02153
NM_145861.4(EDARADD):c.308C>T (p.Ser103Phe) rs114632254 0.02153
NM_004999.4(MYO6):c.3303C>T (p.Cys1101=) rs9443199 0.02151
NM_001142864.4(PIEZO1):c.1365G>A (p.Thr455=) rs61742623 0.02147
NM_001267550.2(TTN):c.93387C>T (p.Ser31129=) rs35445420 0.02143
NM_147127.5(EVC2):c.3557+10G>A rs116218656 0.02138
NM_005422.4(TECTA):c.4751G>C (p.Ser1584Thr) rs34963131 0.02137
NM_198253.3(TERT):c.2031C>T (p.Gly677=) rs33956095 0.02136
NM_000414.4(HSD17B4):c.420A>T (p.Lys140Asn) rs28943589 0.02134
NM_000398.7(CYB5R3):c.21+4867C>G rs8190407 0.02131
NM_022114.4(PRDM16):c.627C>T (p.His209=) rs12058363 0.02126
NM_000222.3(KIT):c.2394C>T (p.Ile798=) rs55789615 0.02125
NM_001927.4(DES):c.1026C>T (p.Asn342=) rs61731508 0.02125
NM_002880.4(RAF1):c.1755A>G (p.Val585=) rs3730296 0.02125
NM_000141.5(FGFR2):c.1864-17T>G rs3135802 0.02120
NM_004006.3(DMD):c.4878G>T (p.Val1626=) rs61733574 0.02120
NM_000098.3(CPT2):c.511C>T (p.Leu171=) rs2229292 0.02118
NM_001006658.3(CR2):c.2649T>C (p.Gly883=) rs1143665 0.02114
NM_001267550.2(TTN):c.43488G>A (p.Arg14496=) rs56034831 0.02114
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_001267550.2(TTN):c.12117C>T (p.Pro4039=) rs55895721 0.02109
NM_032119.4(ADGRV1):c.10039T>C (p.Phe3347Leu) rs10067636 0.02108
NM_015046.7(SETX):c.498+20G>A rs73659013 0.02106
NM_020433.5(JPH2):c.1289-7C>T rs116986535 0.02105
NM_032415.7(CARD11):c.1695C>T (p.Ala565=) rs41454944 0.02103
NM_000144.5(FXN):c.-7G>A rs145006100 0.02101
NM_024675.4(PALB2):c.629C>T (p.Pro210Leu) rs57605939 0.02101
NM_000552.5(VWF):c.1794C>T (p.Ala598=) rs35302737 0.02100
NM_000059.4(BRCA2):c.7397= (p.Val2466=) rs169547 0.02098
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797 0.02093
NM_001365088.1(SLC12A6):c.2934+12G>C rs11854257 0.02091
NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys) rs16990264 0.02084
NM_000441.2(SLC26A4):c.2130C>T (p.Asp710=) rs17154347 0.02079
NM_022489.4(INF2):c.391+18A>T rs115458897 0.02077
NM_000018.4(ACADVL):c.49C>T (p.Leu17Phe) rs2230179 0.02069
NM_181882.3(PRX):c.1051C>T (p.Pro351Ser) rs73933276 0.02067
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129 0.02065
NM_001040108.2(MLH3):c.2390G>A (p.Arg797His) rs28756991 0.02060
NM_001267550.2(TTN):c.36318A>G (p.Lys12106=) rs2115557 0.02057
NM_002691.4(POLD1):c.2154+13_2154+14insA rs3218767 0.02057
NM_001267550.2(TTN):c.24880A>G (p.Arg8294Gly) rs72648982 0.02056
NM_001711.6(BGN):c.120A>G (p.Glu40=) rs34441665 0.02054
NM_004360.5(CDH1):c.1896C>T (p.His632=) rs33969373 0.02054
NM_006231.4(POLE):c.4290+5C>T rs5744936 0.02053
NM_000292.3(PHKA2):c.112G>C (p.Glu38Gln) rs17313469 0.02052
NM_025114.4(CEP290):c.251-10A>T rs190383141 0.02052
NM_000142.5(FGFR3):c.1076-17C>T rs17881967 0.02051
NM_002890.3(RASA1):c.296C>T (p.Ala99Val) rs111840875 0.02050
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698 0.02050
NM_001040108.2(MLH3):c.2221G>T (p.Val741Phe) rs28756990 0.02049
NM_022124.6(CDH23):c.3664G>A (p.Ala1222Thr) rs41281316 0.02047
NM_000180.4(GUCY2D):c.3225-7C>T rs79887212 0.02045
NM_001110556.2(FLNA):c.3270C>T (p.Ile1090=) rs79391751 0.02044
NM_024915.4(GRHL2):c.26A>G (p.Lys9Arg) rs3735709 0.02044
NM_002872.5(RAC2):c.252C>T (p.Leu84=) rs2230919 0.02042
NM_206933.4(USH2A):c.573A>G (p.Val191=) rs73102592 0.02039
NM_005188.4(CBL):c.869+4A>G rs77284821 0.02038
NM_000180.4(GUCY2D):c.3297G>A (p.Pro1099=) rs142351773 0.02033
NM_000254.3(MTR):c.3665A>G (p.Asn1222Ser) rs61739582 0.02033
NM_005529.7(HSPG2):c.1776C>T (p.His592=) rs62642536 0.02028
NM_032119.4(ADGRV1):c.581C>A (p.Pro194His) rs61745498 0.02028
NM_002485.5(NBN):c.2082T>G (p.Pro694=) rs7823648 0.02020
NM_001081.4(CUBN):c.7724C>G (p.Pro2575Arg) rs3740168 0.02019
NM_001034853.2(RPGR):c.1598C>T (p.Thr533Met) rs41312104 0.02014
NM_001384140.1(PCDH15):c.5124G>A (p.Lys1708=) rs74609306 0.02014
NM_017636.4(TRPM4):c.449-10G>A rs78444754 0.02013
NM_001267550.2(TTN):c.86811A>G (p.Val28937=) rs55972010 0.02012
NM_024334.3(TMEM43):c.909C>T (p.Ser303=) rs35100587 0.02012
NM_001099857.5(IKBKG):c.1056-18C>T rs386134237 0.02010
NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr) rs3731249 0.02007
NM_004364.5(CEBPA):c.573C>T (p.His191=) rs192240793 0.02004
NM_001081.4(CUBN):c.2791+6A>C rs78549445 0.01999
NM_001267550.2(TTN):c.92901C>T (p.Ser30967=) rs11694623 0.01999
NM_006767.4(LZTR1):c.2160C>T (p.Phe720=) rs79640036 0.01999
NM_001267550.2(TTN):c.87669T>C (p.His29223=) rs72648229 0.01997
NM_001035.3(RYR2):c.11557+19C>T rs113408406 0.01994
NM_017617.5(NOTCH1):c.2587+20G>A rs148381982 0.01991
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala) rs41277212 0.01991
NM_001148.6(ANK2):c.9900C>A (p.Ser3300Arg) rs34270799 0.01986
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile) rs56309296 0.01985
NM_015512.5(DNAH1):c.5288C>T (p.Ser1763Leu) rs61739896 0.01985
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr) rs56365600 0.01984
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys) rs56057221 0.01984
NM_001267550.2(TTN):c.95553C>T (p.Ser31851=) rs72648260 0.01980
NM_001110556.2(FLNA):c.7553-18A>G rs112682871 0.01979
NM_001040108.2(MLH3):c.666G>A (p.Lys222=) rs28756980 0.01977
NM_032119.4(ADGRV1):c.2001T>C (p.Asp667=) rs9293547 0.01974
NM_001244008.2(KIF1A):c.393C>T (p.Asn131=) rs35139906 0.01973
NM_004656.4(BAP1):c.1413T>G (p.Ala471=) rs34736117 0.01973
NM_000251.3(MSH2):c.573C>T (p.Leu191=) rs1800151 0.01972
NM_015512.5(DNAH1):c.8514+13G>A rs111312769 0.01970
NM_015512.5(DNAH1):c.9783C>T (p.Arg3261=) rs61733865 0.01969
NM_015512.5(DNAH1):c.7848C>T (p.Tyr2616=) rs113529103 0.01967
NM_000552.5(VWF):c.3379+13G>A rs2885752 0.01966
NM_032119.4(ADGRV1):c.7576A>G (p.Ile2526Val) rs75191159 0.01965
NM_000061.3(BTK):c.954T>C (p.Ser318=) rs5991926 0.01964
NM_015512.5(DNAH1):c.9121C>T (p.Arg3041Cys) rs61731638 0.01963
NM_001365951.3(KIF1B):c.608+8dup rs139613776 0.01962
NM_001365951.3(KIF1B):c.2115+6360G>T rs41274458 0.01961
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129 0.01960
NM_001365951.3(KIF1B):c.2115+6753A>G rs41274462 0.01960
NM_000180.4(GUCY2D):c.1119G>A (p.Val373=) rs56034424 0.01951
NM_001042492.3(NF1):c.7971-19G>T rs17887156 0.01950
NM_001927.4(DES):c.372G>A (p.Glu124=) rs34365369 0.01950
NM_000384.3(APOB):c.9004C>T (p.Leu3002=) rs12713600 0.01938
NM_005026.5(PIK3CD):c.935C>G (p.Ser312Cys) rs61755420 0.01937
NM_022489.4(INF2):c.3478G>A (p.Gly1160Ser) rs9672065 0.01930
NM_003200.5(TCF3):c.359T>C (p.Leu120Pro) rs35354874 0.01928
NM_000558.5(HBA1):c.300+55G>T rs148228241 0.01925
NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser) rs72650006 0.01917
NM_001844.5(COL2A1):c.610-7G>A rs7967258 0.01915
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val) rs35997569 0.01914
NM_133379.5(TTN):c.13869T>G (p.Ser4623=) rs72648906 0.01910
NM_001287344.2(BTK):c.63C>T (p.Ser21=) rs141862637 0.01909
NM_032638.5(GATA2):c.1233G>A (p.Ala411=) rs34172218 0.01909
NM_005529.7(HSPG2):c.6114C>G (p.Ile2038Met) rs116788687 0.01908
NM_003640.5(ELP1):c.959-15C>T rs112114410 0.01906
NM_145038.5(DRC1):c.1710G>A (p.Ala570=) rs76446726 0.01898
NM_000342.4(SLC4A1):c.2688T>C (p.Asp896=) rs45497993 0.01896
NM_001355436.2(SPTB):c.666T>C (p.Phe222=) rs17102119 0.01896
NM_000335.5(SCN5A):c.482+16G>C rs41312949 0.01894
NM_001040108.2(MLH3):c.4242+13C>G rs77157930 0.01890
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp) rs2235000 0.01889
NM_002386.4(MC1R):c.900C>T (p.Phe300=) rs3212367 0.01887
NM_001142864.4(PIEZO1):c.4385G>A (p.Arg1462Gln) rs188337046 0.01884
NM_001145809.2(MYH14):c.3749C>A (p.Ala1250Glu) rs11669191 0.01884
NM_080680.3(COL11A2):c.5165C>T (p.Pro1722Leu) rs2229792 0.01881
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile) rs35641839 0.01879
NM_020191.4(MRPS22):c.283A>C (p.Ile95Leu) rs73866065 0.01879
NM_002485.5(NBN):c.1914+9C>T rs13312938 0.01874
NM_003640.5(ELP1):c.189C>T (p.Leu63=) rs2230786 0.01873
NM_001267550.2(TTN):c.24909G>A (p.Lys8303=) rs72648983 0.01872
NM_198253.3(TERT):c.3324G>A (p.Pro1108=) rs35033501 0.01868
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124 0.01865
NM_006892.4(DNMT3B):c.1996+6C>T rs77355896 0.01863
NM_001999.4(FBN2):c.3015G>A (p.Leu1005=) rs28763946 0.01862
NM_017617.5(NOTCH1):c.711C>T (p.Gly237=) rs61751557 0.01860
NM_147127.5(EVC2):c.3660-18C>A rs6853237 0.01859
NM_000168.6(GLI3):c.2835G>C (p.Leu945=) rs61758978 0.01858
NM_000342.4(SLC4A1):c.2712C>T (p.Tyr904=) rs45519733 0.01857
NM_000254.3(MTR):c.940G>A (p.Asp314Asn) rs2229274 0.01853
NM_000552.5(VWF):c.1433-10T>C rs66722092 0.01853
NM_005901.6(SMAD2):c.828G>A (p.Ser276=) rs1051066 0.01853
NM_006231.4(POLE):c.2320-13A>G rs75329753 0.01853
NM_004082.5(DCTN1):c.2448A>G (p.Ala816=) rs1130484 0.01851
NM_004183.4(BEST1):c.201G>C (p.Leu67=) rs1801393 0.01850
NM_014391.3(ANKRD1):c.346-15T>A rs11595794 0.01849
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489 0.01849
NM_000517.6(HBA2):c.300+55T>G rs2362746 0.01848
NM_007078.3(LDB3):c.1903G>A (p.Val635Ile) rs45618633 0.01846
NM_000222.3(KIT):c.2847C>T (p.Pro949=) rs56288823 0.01843
NM_000090.4(COL3A1):c.1257C>T (p.Ala419=) rs41272837 0.01840
NM_000095.3(COMP):c.511G>A (p.Ala171Thr) rs115338183 0.01840
NM_015046.7(SETX):c.6106+14G>A rs73661157 0.01840
NM_032578.4(MYPN):c.2410G>A (p.Gly804Arg) rs62620248 0.01839
NM_017636.4(TRPM4):c.783G>A (p.Lys261=) rs111930830 0.01836
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_001267550.2(TTN):c.45206A>T (p.Glu15069Val) rs114331773 0.01832
NM_001267550.2(TTN):c.49648+16T>C rs57677875 0.01831
NM_022051.3(EGLN1):c.471G>C (p.Gln157His) rs61750991 0.01830
NM_025132.4(WDR19):c.1357-10T>C rs16995189 0.01827
NM_015512.5(DNAH1):c.4531G>A (p.Val1511Met) rs61734638 0.01825
NM_002454.3(MTRR):c.1536C>T (p.Ser512=) rs34172797 0.01824
NM_002734.5(PRKAR1A):c.87G>A (p.Ala29=) rs3730349 0.01815
NM_000384.3(APOB):c.4365C>T (p.Phe1455=) rs12720847 0.01812
NM_000182.5(HADHA):c.1620+11G>C rs112236946 0.01807
NM_001142864.4(PIEZO1):c.3129C>T (p.Leu1043=) rs61742732 0.01802
NM_001374353.1(GLI2):c.1633-17C>T rs78949549 0.01801
NM_001267550.2(TTN):c.10850C>T (p.Ser3617Phe) rs57389274 0.01798
NM_001244008.2(KIF1A):c.3282C>T (p.His1094=) rs35664935 0.01793
NM_005026.5(PIK3CD):c.371-3C>T rs113176101 0.01792
NM_001244008.2(KIF1A):c.1503A>G (p.Pro501=) rs35663732 0.01790
NM_000719.7(CACNA1C):c.5680+15C>T rs114036394 0.01782
NM_001267550.2(TTN):c.542G>A (p.Ser181Asn) rs72647843 0.01782
NM_024753.5(TTC21B):c.1417C>T (p.Leu473Phe) rs2163649 0.01776
NM_001457.4(FLNB):c.292+8C>A rs9831243 0.01775
NM_213599.3(ANO5):c.2259A>G (p.Ser753=) rs61746201 0.01772
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858 0.01767
NM_001184.4(ATR):c.1326A>G (p.Lys442=) rs28897765 0.01766
NM_000316.3(PTH1R):c.1636G>A (p.Glu546Lys) rs77048718 0.01765
NM_001267550.2(TTN):c.22611T>C (p.His7537=) rs16866469 0.01765
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701 0.01764
NM_177438.3(DICER1):c.2997T>G (p.Leu999=) rs12018992 0.01764
NM_017617.5(NOTCH1):c.2205C>T (p.Asn735=) rs2229970 0.01759
NM_018979.4(WNK1):c.3490-5T>A rs72650719 0.01759
NM_198253.3(TERT):c.1950+10C>T rs33948291 0.01758
NM_024577.4(SH3TC2):c.2872+9G>A rs76488338 0.01755
NM_017636.4(TRPM4):c.3641-19C>G rs7256050 0.01753
NM_000142.5(FGFR3):c.348C>T (p.Arg116=) rs2305179 0.01752
NM_001081.4(CUBN):c.2571C>T (p.Asn857=) rs17432826 0.01751
NM_001365951.3(KIF1B):c.363+6A>C rs114084418 0.01751
NM_000260.4(MYO7A):c.5619G>A (p.Arg1873=) rs45450893 0.01749
NM_005026.5(PIK3CD):c.931-9G>C rs28730669 0.01748
NM_022124.6(CDH23):c.2424G>A (p.Gly808=) rs76601590 0.01745
NM_022124.6(CDH23):c.2958G>A (p.Leu986=) rs74702249 0.01745
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NM_001184.4(ATR):c.946G>A (p.Val316Ile) rs28897764 0.01744
NM_001184.4(ATR):c.1950G>A (p.Glu650=) rs28910270 0.01739
NM_000089.4(COL1A2):c.82-12A>G rs143689469 0.01736
NM_001035.3(RYR2):c.14421C>T (p.Asp4807=) rs75206601 0.01733
NR_001566.1(TERC):n.58G>A rs113487931 0.01733
NM_001370658.1(BTD):c.-94C>T rs114567021 0.01730
NM_001110792.2(MECP2):c.1269C>T (p.Ser423=) rs3027928 0.01726
NM_022124.6(CDH23):c.7467C>T (p.Arg2489=) rs111033289 0.01726
NM_153717.3(EVC):c.1563+1754G>A rs115269936 0.01725
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile) rs56027402 0.01724
NM_133379.5(TTN):c.13165G>A (p.Val4389Ile) rs72648903 0.01724
NM_000245.4(MET):c.1124A>G (p.Asn375Ser) rs33917957 0.01723
NM_003126.4(SPTA1):c.2472C>T (p.Asp824=) rs35856400 0.01721
NM_003476.5(CSRP3):c.312C>G (p.Thr104=) rs45582433 0.01721
NM_000342.4(SLC4A1):c.924G>A (p.Leu308=) rs5013 0.01720
NM_001142864.4(PIEZO1):c.4754A>G (p.Asn1585Ser) rs114034093 0.01717
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu) rs45551636 0.01717
NM_000398.7(CYB5R3):c.21+6C>T rs8190370 0.01715
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) rs4987188 0.01714
NM_001081.4(CUBN):c.10265C>T (p.Thr3422Ile) rs1801230 0.01713
NM_001354604.2(MITF):c.330G>A (p.Thr110=) rs9849776 0.01713
NM_000093.5(COL5A1):c.4955-16C>T rs112712705 0.01710
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn) rs72648962 0.01709
NM_002454.3(MTRR):c.1464A>G (p.Val488=) rs35890938 0.01708
NM_006070.6(TFG):c.416-9T>C rs115896544 0.01708
NM_018474.6(KIZ):c.348A>G (p.Leu116=) rs16982513 0.01708
NM_177965.4(CFAP418):c.450G>A (p.Ser150=) rs35141355 0.01707
NM_002454.3(MTRR):c.1761T>C (p.Tyr587=) rs6874544 0.01706
NM_000188.3(HK1):c.1031+6T>C rs57012387 0.01704
NM_004183.4(BEST1):c.618G>A (p.Leu206=) rs62641693 0.01704
NM_004183.4(BEST1):c.619C>A (p.Leu207Ile) rs74653691 0.01704
NM_000558.5(HBA1):c.95+39C>T rs577938658 0.01700
NM_002691.4(POLD1):c.1713C>T (p.Pro571=) rs2230248 0.01698
NM_002148.4(HOXD10):c.745+19G>A rs114841233 0.01694
NM_206933.4(USH2A):c.5857+17A>C rs74766738 0.01694
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) rs2229995 0.01693
NM_177965.4(CFAP418):c.156-11C>T rs74652296 0.01693
NM_000093.5(COL5A1):c.5067+20C>G rs112600748 0.01689
NM_002471.4(MYH6):c.3408G>A (p.Lys1136=) rs28730770 0.01687
NM_006005.3(WFS1):c.2019C>T (p.Cys673=) rs71524375 0.01683
NM_001127898.4(CLCN5):c.416-6A>T rs6651602 0.01679
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile) rs72647851 0.01678
NM_004006.3(DMD):c.832-17C>A rs72470514 0.01678
NM_015512.5(DNAH1):c.10305G>A (p.Thr3435=) rs75513160 0.01677
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=) rs56270948 0.01676
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323 0.01675
NM_015512.5(DNAH1):c.5697C>T (p.Tyr1899=) rs115818632 0.01673
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01671
NM_018979.4(WNK1):c.1512A>G (p.Leu504=) rs56325964 0.01671
NM_005413.4(SIX3):c.90G>T (p.Ala30=) rs78018362 0.01666
NM_032119.4(ADGRV1):c.2735-10C>A rs78625945 0.01665
NM_018979.4(WNK1):c.2081T>C (p.Ile694Thr) rs61736905 0.01664
NM_000142.5(FGFR3):c.1075+5C>T rs3135885 0.01659
NM_017654.4(SAMD9):c.2642A>G (p.Asp881Gly) rs140921998 0.01659
NM_000069.3(CACNA1S):c.858C>T (p.Tyr286=) rs61734621 0.01658
NM_001267550.2(TTN):c.25936C>T (p.Arg8646Cys) rs72648987 0.01656
NM_001291303.3(FAT4):c.14183G>A (p.Arg4728Lys) rs72675395 0.01656
NM_033100.4(CDHR1):c.1515C>T (p.Gly505=) rs116594644 0.01656
NM_015512.5(DNAH1):c.2308C>G (p.Gln770Glu) rs74363541 0.01655
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543 0.01655
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324 0.01651
NM_144997.7(FLCN):c.872-13A>G rs114970273 0.01651
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val) rs72648954 0.01649
NM_018979.4(WNK1):c.1526T>C (p.Ile509Thr) rs34728563 0.01649
NM_001145809.2(MYH14):c.1024C>G (p.Pro342Ala) rs34498817 0.01645
NM_001184.4(ATR):c.2875G>A (p.Val959Met) rs28910271 0.01643
NM_001376.5(DYNC1H1):c.3960+16G>A rs11850726 0.01643
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957 0.01643
NM_201253.3(CRB1):c.2128+15A>C rs75691013 0.01643
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079 0.01642
NM_015512.5(DNAH1):c.7569C>T (p.Ser2523=) rs73072968 0.01641
NM_003200.5(TCF3):c.592A>G (p.Thr198Ala) rs11879402 0.01640
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly) rs17853166 0.01640
NM_004360.5(CDH1):c.2634C>T (p.Gly878=) rs2229044 0.01638
NM_006329.4(FBLN5):c.1122C>T (p.Tyr374=) rs145515678 0.01635
NM_003923.3(FOXH1):c.1077G>A (p.Leu359=) rs7833404 0.01634
NM_001267550.2(TTN):c.101803A>G (p.Ile33935Val) rs56376197 0.01633
NM_004006.3(DMD):c.5724T>C (p.Asp1908=) rs143159113 0.01630
NM_021625.5(TRPV4):c.387-4C>T rs12305439 0.01630
NM_001031834.1(RAB40AL):c.639G>A (p.Pro213=) rs7876193 0.01629
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_033337.3(CAV3):c.171G>A (p.Val57=) rs61147808 0.01628
NM_001081.4(CUBN):c.8902G>C (p.Glu2968Gln) rs45569534 0.01626
NM_020366.4(RPGRIP1):c.*10T>C rs80191010 0.01626
NM_000188.3(HK1):c.692-3C>T rs41279656 0.01625
NM_000384.3(APOB):c.11808C>T (p.Ile3936=) rs12720852 0.01624
NM_000384.3(APOB):c.3509-10G>A rs12720770 0.01624
NM_021939.4(FKBP10):c.732A>G (p.Thr244=) rs8078775 0.01623
NM_015702.3(MMADHC):c.478+6T>G rs13402787 0.01622
NM_005529.7(HSPG2):c.2869A>C (p.Asn957His) rs62618730 0.01621
NM_001145809.2(MYH14):c.483G>A (p.Met161Ile) rs34773557 0.01615
NM_000719.7(CACNA1C):c.5383G>A (p.Gly1795Arg) rs111298509 0.01614
NM_003640.5(ELP1):c.2587+14C>T rs141670242 0.01614
NM_000311.5(PRNP):c.512A>G (p.Asn171Ser) rs16990018 0.01612
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe) rs33917087 0.01611
NM_000158.4(GBE1):c.1716C>T (p.Asp572=) rs2229520 0.01610
NM_000021.4(PSEN1):c.1248+8T>C rs362382 0.01609
NM_020366.4(RPGRIP1):c.3546C>T (p.Asp1182=) rs34116882 0.01609
NM_024753.5(TTC21B):c.2334C>T (p.Tyr778=) rs79656636 0.01606
NM_001031834.1(RAB40AL):c.126G>A (p.Pro42=) rs61745023 0.01604
NM_000069.3(CACNA1S):c.3796-9G>A rs142184434 0.01603
NM_000089.4(COL1A2):c.70+719_70+720del rs201691876 0.01601
NM_022124.6(CDH23):c.4210-7C>T rs79271090 0.01600
NM_001199397.3(NEK1):c.2764+12T>A rs77658514 0.01594
NM_000540.3(RYR1):c.11547G>A (p.Gln3849=) rs142518033 0.01592
NM_003640.5(ELP1):c.2855A>T (p.Lys952Ile) rs2230798 0.01592
NM_014639.4(SKIC3):c.2599T>G (p.Leu867Val) rs75433043 0.01592
NM_002230.4(JUP):c.867C>T (p.Thr289=) rs2230407 0.01591
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu) rs12352982 0.01591
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_004004.6(GJB2):c.-15C>T rs72561725 0.01589
NM_015512.5(DNAH1):c.1789C>T (p.Arg597Cys) rs61734654 0.01589
NM_000051.4(ATM):c.186-17A>G rs4987907 0.01587
NM_001148.6(ANK2):c.7007C>T (p.Ala2336Val) rs61734477 0.01587
NM_145038.5(DRC1):c.2001A>G (p.Thr667=) rs116119084 0.01587
NM_012452.3(TNFRSF13B):c.659T>C (p.Val220Ala) rs56063729 0.01586
NM_000719.7(CACNA1C):c.171C>T (p.Asp57=) rs34419050 0.01584
NM_000069.3(CACNA1S):c.3525+18C>T rs56021911 0.01583
NM_000540.3(RYR1):c.5360C>T (p.Pro1787Leu) rs34934920 0.01583
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390 0.01583
NM_002500.5(NEUROD1):c.590C>A (p.Pro197His) rs8192556 0.01580
NM_002047.4(GARS1):c.747T>C (p.Tyr249=) rs7808770 0.01578
NM_001267550.2(TTN):c.62178T>C (p.Thr20726=) rs72646847 0.01577
NM_000092.5(COL4A4):c.1323T>C (p.Pro441=) rs35830639 0.01576
NM_012472.6(DNAAF11):c.609C>T (p.Asn203=) rs35956157 0.01575
NM_021939.4(FKBP10):c.1400-4C>G rs114199361 0.01571
NM_194248.3(OTOF):c.3189G>A (p.Ala1063=) rs80356573 0.01570
NM_004239.4(TRIP11):c.405T>C (p.Ala135=) rs77981249 0.01569
NM_000264.5(PTCH1):c.318C>T (p.Leu106=) rs1805153 0.01567
NM_001148.6(ANK2):c.6634G>A (p.Gly2212Ser) rs61734478 0.01567
NM_001614.5(ACTG1):c.399C>T (p.Tyr133=) rs2230158 0.01567
NM_002755.4(MAP2K1):c.438+20C>T rs16949939 0.01567
NM_004239.4(TRIP11):c.5781G>A (p.Ser1927=) rs3742719 0.01567
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_000435.3(NOTCH3):c.3399C>A (p.His1133Gln) rs112197217 0.01566
NM_001614.5(ACTG1):c.729C>T (p.Pro243=) rs2230159 0.01563
NM_003126.4(SPTA1):c.2353C>A (p.Arg785=) rs2022057 0.01562
NM_000448.3(RAG1):c.303G>A (p.Ala101=) rs4151025 0.01561
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys) rs72647875 0.01559
NM_206933.4(USH2A):c.6369C>T (p.Cys2123=) rs111033472 0.01557
NM_000138.5(FBN1):c.4460-19A>G rs55840194 0.01556
NM_003126.4(SPTA1):c.3896+19C>T rs76879596 0.01556
NM_007078.3(LDB3):c.609G>A (p.Ser203=) rs45531131 0.01554
NM_053025.4(MYLK):c.1516+16C>T rs77590783 0.01553
NM_003200.5(TCF3):c.1062T>C (p.Ser354=) rs11882821 0.01552
NM_000188.3(HK1):c.1719+19A>G rs5030915 0.01551
NM_001142864.4(PIEZO1):c.555C>T (p.Ala185=) rs115481622 0.01551
NM_194248.3(OTOF):c.2317C>T (p.Arg773Cys) rs80356569 0.01549
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=) rs6725673 0.01548
NM_000435.3(NOTCH3):c.2039G>A (p.Arg680His) rs10406745 0.01547
NM_000218.3(KCNQ1):c.1455C>T (p.Phe485=) rs17215465 0.01545
NM_000051.4(ATM):c.2193C>T (p.Tyr731=) rs2229019 0.01543
NM_001042492.3(NF1):c.2851-16T>C rs17880825 0.01543
NM_001081.4(CUBN):c.5924C>T (p.Pro1975Leu) rs41289303 0.01542
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr) rs744427 0.01542
NM_000051.4(ATM):c.1636C>G (p.Leu546Val) rs2227924 0.01541
NM_002454.3(MTRR):c.1370+19G>A rs113005255 0.01540
NM_000435.3(NOTCH3):c.6102C>T (p.Pro2034=) rs114887570 0.01539
NM_000188.3(HK1):c.2613C>T (p.Phe871=) rs34616021 0.01538
NM_000342.4(SLC4A1):c.1770G>A (p.Lys590=) rs35807245 0.01536
NM_001355436.2(SPTB):c.2934G>A (p.Glu978=) rs72724498 0.01536
NM_080916.3(DGUOK):c.423G>A (p.Glu141=) rs1804599 0.01535
NM_004168.4(SDHA):c.1664-8G>A rs199790689 0.01533
NM_017780.4(CHD7):c.6738G>A (p.Glu2246=) rs61729627 0.01533
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_000642.3(AGL):c.207T>C (p.Asn69=) rs2230305 0.01529
NM_194248.3(OTOF):c.3247G>C (p.Ala1083Pro) rs80356574 0.01529
NM_000188.3(HK1):c.2538C>T (p.Arg846=) rs10998760 0.01528
NM_001042492.3(NF1):c.4929G>A (p.Val1643=) rs17880521 0.01527
NM_001267550.2(TTN):c.52706-17A>G rs72646807 0.01524
NM_002047.4(GARS1):c.1761G>A (p.Thr587=) rs3886641 0.01523
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=) rs5216 0.01521
NM_000642.3(AGL):c.82+1565T>G rs145049634 0.01521
NM_005477.3(HCN4):c.1737+20G>A rs115706632 0.01520
NM_001267550.2(TTN):c.18390A>T (p.Thr6130=) rs66523653 0.01518
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570 0.01518
NM_000552.5(VWF):c.6902-5T>A rs112046757 0.01517
NM_001079802.2(FKTN):c.*4825T>C rs115155934 0.01517
NM_004168.4(SDHA):c.1305G>T (p.Leu435=) rs35964044 0.01515
NM_014365.3(HSPB8):c.552C>T (p.Asn184=) rs112052602 0.01515
NM_001458.5(FLNC):c.1374C>T (p.Pro458=) rs115140972 0.01514
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) rs61751542 0.01511
NM_004006.3(DMD):c.3705C>T (p.Ala1235=) rs143628111 0.01510
NM_022124.6(CDH23):c.4341T>C (p.Asp1447=) rs12218564 0.01509
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser) rs45494092 0.01508
NM_018006.5(TRMU):c.442G>A (p.Glu148Lys) rs34012206 0.01506
NM_004006.3(DMD):c.832-18C>G rs72470515 0.01505
NM_001184.4(ATR):c.293-20C>T rs115097590 0.01504
NM_001267550.2(TTN):c.65743C>A (p.Gln21915Lys) rs62618736 0.01503
NM_023110.3(FGFR1):c.2187-6C>T rs4647904 0.01503
NM_015512.5(DNAH1):c.931G>A (p.Asp311Asn) rs55931436 0.01502
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194 0.01499
NM_001291303.3(FAT4):c.1101A>G (p.Val367=) rs57692448 0.01498
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly) rs17125721 0.01497
NM_004006.3(DMD):c.4344+17A>T rs72468646 0.01496
NM_006005.3(WFS1):c.2469C>T (p.Ile823=) rs1801215 0.01494
NM_001267550.2(TTN):c.2781A>C (p.Thr927=) rs55892860 0.01493
NM_020297.4(ABCC9):c.1848C>T (p.Asp616=) rs61001398 0.01493
NM_022114.4(PRDM16):c.2793C>T (p.Asn931=) rs59135929 0.01493
NM_000180.4(GUCY2D):c.2517G>A (p.Thr839=) rs56316238 0.01492
NM_000717.5(CA4):c.204A>G (p.Gly68=) rs35468643 0.01491
NM_001040108.2(MLH3):c.2533A>G (p.Ser845Gly) rs28756992 0.01483
NM_000090.4(COL3A1):c.1770T>C (p.Pro590=) rs80302667 0.01481
NM_000290.4(PGAM2):c.216C>T (p.Asp72=) rs111656877 0.01481
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489 0.01481
NM_001195263.2(PDZD7):c.936C>T (p.Asn312=) rs35038258 0.01480
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val) rs75829835 0.01478
NM_001267550.2(TTN):c.80635C>A (p.Gln26879Lys) rs79926414 0.01477
NM_006070.6(TFG):c.945G>A (p.Pro315=) rs61736338 0.01477
NM_206933.4(USH2A):c.2109T>C (p.Asp703=) rs45555435 0.01476
NM_024301.5(FKRP):c.192C>T (p.Pro64=) rs111754012 0.01474
NM_000093.5(COL5A1):c.5068-7T>C rs113256540 0.01472
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg) rs74874677 0.01472
NM_001267550.2(TTN):c.40141+7G>A rs77960621 0.01470
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys) rs2229291 0.01469
NM_004239.4(TRIP11):c.4727G>A (p.Arg1576His) rs35007347 0.01467
NM_005529.7(HSPG2):c.7509C>T (p.Cys2503=) rs62642515 0.01467
NM_000642.3(AGL):c.2885C>G (p.Ser962Cys) rs34714252 0.01465
NM_002661.5(PLCG2):c.1558-18C>T rs113312523 0.01465
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=) rs61749202 0.01463
NM_001035.3(RYR2):c.1519G>A (p.Val507Ile) rs16835270 0.01462
NM_005957.5(MTHFR):c.1958C>T (p.Thr653Met) rs35737219 0.01462
NM_001378183.1(PIEZO2):c.3941C>T (p.Ser1314Phe) rs9959296 0.01461
NM_005529.7(HSPG2):c.7035C>T (p.Ile2345=) rs2229484 0.01460
NM_001204.7(BMPR2):c.600A>C (p.Leu200=) rs55722784 0.01458
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His) rs56307213 0.01455
NM_006415.4(SPTLC1):c.1255-7C>T rs7863487 0.01454
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg) rs1800057 0.01452
NM_022114.4(PRDM16):c.2940-17G>A rs41301967 0.01452
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353 0.01449
NM_005529.7(HSPG2):c.7532C>T (p.Thr2511Ile) rs62642518 0.01448
NM_001370466.1(NOD2):c.2381+10A>C rs72796353 0.01447
NM_001376.5(DYNC1H1):c.6221+13G>T rs17541088 0.01447
NM_017654.4(SAMD9):c.3825T>C (p.Phe1275=) rs3802064 0.01446
NM_000257.4(MYH7):c.4353+17G>A rs45581933 0.01445
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=) rs7140196 0.01445
NM_000435.3(NOTCH3):c.6813T>C (p.Pro2271=) rs61731974 0.01445
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937 0.01445
NM_000447.3(PSEN2):c.441C>T (p.Ser147=) rs114334281 0.01441
NM_001276345.2(TNNT2):c.163+12G>A rs45580032 0.01441
NM_000558.5(HBA1):c.*46C>A rs141514155 0.01440
NM_001374353.1(GLI2):c.963C>G (p.Pro321=) rs149894186 0.01440
NM_206933.4(USH2A):c.4371G>A (p.Ser1457=) rs56013136 0.01440
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097 0.01438
NM_006231.4(POLE):c.2550C>T (p.Ile850=) rs5744834 0.01438
NM_006005.3(WFS1):c.9C>T (p.Ser3=) rs71524363 0.01435
NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu) rs7418956 0.01431
NM_015340.4(LARS2):c.2181G>T (p.Lys727Asn) rs36054230 0.01430
NM_000251.3(MSH2):c.1077-10T>C rs17224360 0.01428
NM_015512.5(DNAH1):c.7197G>C (p.Val2399=) rs61738522 0.01427
NM_001244008.2(KIF1A):c.2979C>T (p.Ala993=) rs116297894 0.01425
NM_006767.4(LZTR1):c.2253C>T (p.Phe751=) rs143758478 0.01424
NM_001267550.2(TTN):c.3993C>T (p.Ile1331=) rs55757622 0.01419
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781 0.01418
NM_206933.4(USH2A):c.8681+18A>G rs41277198 0.01418
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys) rs5745066 0.01416
NM_000350.3(ABCA4):c.2964C>T (p.Leu988=) rs61754034 0.01415
NM_022124.6(CDH23):c.173A>G (p.Gln58Arg) rs61732490 0.01415
NM_003172.4(SURF1):c.751+6T>C rs41296099 0.01414
NM_177438.3(DICER1):c.3198T>C (p.Thr1066=) rs114964211 0.01414
NM_001244008.2(KIF1A):c.183+15C>T rs73102676 0.01412
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_181882.3(PRX):c.731C>T (p.Ala244Val) rs118071705 0.01410
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) rs11570076 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_001042492.3(NF1):c.8113+20G>A rs55747230 0.01406
NM_004239.4(TRIP11):c.2651A>G (p.Asp884Gly) rs34967261 0.01405
NM_006231.4(POLE):c.5678+4C>T rs5744973 0.01405
NM_006231.4(POLE):c.6330+18C>T rs5745024 0.01405
NM_004239.4(TRIP11):c.3306T>C (p.Phe1102=) rs34151071 0.01402
NM_000719.7(CACNA1C):c.213G>A (p.Ala71=) rs113869350 0.01399
NM_000238.4(KCNH2):c.1809C>T (p.Gly603=) rs41314375 0.01398
NM_000051.4(ATM):c.6095+15T>C rs3212321 0.01395
NM_000448.3(RAG1):c.2638G>A (p.Glu880Lys) rs4151033 0.01395
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser) rs3218673 0.01393
NM_000051.4(ATM):c.2685A>G (p.Leu895=) rs3218687 0.01393
NM_000292.3(PHKA2):c.849T>A (p.Ile283=) rs61733284 0.01392
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr) rs36043230 0.01390
NM_032119.4(ADGRV1):c.5304G>A (p.Glu1768=) rs41303346 0.01390
NM_000132.4(F8):c.4500G>A (p.Pro1500=) rs33921347 0.01389
NM_007294.4(BRCA1):c.*36C>G rs3092995 0.01385
NM_001854.4(COL11A1):c.2611-4C>T rs79505593 0.01381
NM_018006.5(TRMU):c.479C>T (p.Ala160Val) rs35338668 0.01380
NM_000168.6(GLI3):c.3774C>G (p.Leu1258=) rs35448119 0.01377
NM_024753.5(TTC21B):c.2385G>C (p.Leu795=) rs80225158 0.01377
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610 0.01377
NM_004239.4(TRIP11):c.1527+6A>G rs17127844 0.01376
NM_001042492.3(NF1):c.168C>T (p.Ser56=) rs17881168 0.01374
NM_001142864.4(PIEZO1):c.1297-14T>C rs11860864 0.01373
NM_004168.4(SDHA):c.1776T>C (p.His592=) rs1126538 0.01372
NM_053025.4(MYLK):c.2533C>T (p.Arg845Cys) rs3732485 0.01370
NM_000238.4(KCNH2):c.1128+1769G>A rs41314396 0.01368
NM_006329.4(FBLN5):c.989+13G>A rs74071605 0.01368
NM_004655.4(AXIN2):c.1383C>T (p.Ser461=) rs9914661 0.01367
NM_004239.4(TRIP11):c.2931C>T (p.Thr977=) rs7152887 0.01366
NM_000459.5(TEK):c.443T>C (p.Ile148Thr) rs35969327 0.01365
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys) rs56324595 0.01363
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567 0.01363
NM_014874.4(MFN2):c.2205-13C>A rs76020240 0.01362
NM_032578.4(MYPN):c.2925+9G>C rs12241644 0.01362
NM_004655.4(AXIN2):c.1615G>A (p.Val539Met) rs9913621 0.01361
NM_000335.5(SCN5A):c.1302C>T (p.Phe434=) rs41313699 0.01360
NM_000340.2(SLC2A2):c.1069-9T>C rs5407 0.01360
NM_001844.5(COL2A1):c.1266+7G>A rs41317915 0.01359
NM_006182.4(DDR2):c.1323G>A (p.Met441Ile) rs34722354 0.01358
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) rs41272435 0.01358
NM_001267550.2(TTN):c.10700G>A (p.Ser3567Asn) rs72955213 0.01357
NM_000112.4(SLC26A2):c.2220A>G (p.Ter740=) rs61732052 0.01353
NM_002148.4(HOXD10):c.987G>C (p.Arg329=) rs33913965 0.01352
NM_000342.4(SLC4A1):c.16-14G>A rs145502796 0.01351
NM_001267550.2(TTN):c.26245G>A (p.Val8749Ile) rs16866457 0.01351
NM_015512.5(DNAH1):c.5988A>C (p.Ser1996=) rs61753436 0.01351
NM_001110556.2(FLNA):c.7434G>A (p.Glu2478=) rs74667788 0.01349
NM_001040108.2(MLH3):c.691A>C (p.Lys231Gln) rs28756981 0.01348
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_133379.5(TTN):c.13478A>C (p.Lys4493Thr) rs78457662 0.01346
NM_001267550.2(TTN):c.12235A>G (p.Ile4079Val) rs34070843 0.01345
NM_002471.4(MYH6):c.399G>A (p.Val133=) rs78891557 0.01343
NM_003001.5(SDHC):c.-32T>C rs115782155 0.01342
NM_002474.3(MYH11):c.4770G>A (p.Lys1590=) rs11648119 0.01341
NM_004415.4(DSP):c.4773G>A (p.Arg1591=) rs28763968 0.01341
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu) rs12478318 0.01339
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01339
NM_001267550.2(TTN):c.65516C>T (p.Ala21839Val) rs55948748 0.01336
NM_006329.4(FBLN5):c.863-13C>T rs74071606 0.01336
NM_133379.5(TTN):c.13608C>T (p.Ser4536=) rs72648905 0.01336
NM_000207.3(INS):c.36G>A (p.Ala12=) rs3842744 0.01335
NM_001035.3(RYR2):c.6928+4G>A rs79862521 0.01335
NM_001244008.2(KIF1A):c.2859-18G>A rs150076186 0.01335
NM_001035.3(RYR2):c.4684-5G>C rs7522981 0.01334
NM_000088.4(COL1A1):c.298+7C>A rs41317345 0.01333
NM_018006.5(TRMU):c.864C>T (p.Asp288=) rs61737827 0.01333
NM_000342.4(SLC4A1):c.1878T>C (p.Asp626=) rs5020 0.01332
NM_000552.5(VWF):c.6532G>T (p.Ala2178Ser) rs34230288 0.01330
NM_001142864.4(PIEZO1):c.6678C>T (p.Ser2226=) rs34655152 0.01329
NM_017617.5(NOTCH1):c.2468-19G>A rs116515776 0.01328
NM_000352.6(ABCC8):c.4120-19C>T rs1800853 0.01325
NM_001303256.3(MORC2):c.699-20T>C rs78973434 0.01322
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876 0.01322
NM_004239.4(TRIP11):c.2383G>C (p.Val795Leu) rs34699762 0.01322
NM_005529.7(HSPG2):c.8848G>A (p.Gly2950Arg) rs41266007 0.01322
NM_006231.4(POLE):c.91G>T (p.Ala31Ser) rs34047482 0.01320
NM_001370466.1(NOD2):c.2093C>G (p.Ala698Gly) rs5743278 0.01319
NM_003172.4(SURF1):c.167C>G (p.Ala56Gly) rs116779216 0.01318
NM_004082.5(DCTN1):c.1484G>A (p.Arg495Gln) rs17721059 0.01316
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr) rs41303285 0.01316
NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala) rs140598 0.01315
NM_000642.3(AGL):c.3849T>C (p.Ala1283=) rs28730706 0.01312
NM_000257.4(MYH7):c.1767C>T (p.Asn589=) rs3729816 0.01311
NM_032228.6(FAR1):c.12C>T (p.Ile4=) rs117395380 0.01310
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly) rs11203289 0.01309
NM_000459.5(TEK):c.902-10C>T rs41272241 0.01308
NM_001267550.2(TTN):c.2949C>T (p.Ile983=) rs56310516 0.01308
NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser) rs56234888 0.01307
NM_006883.2(SHOX):c.653G>A (p.Arg218His) rs193072890 0.01306
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys) rs72646869 0.01305
NM_000168.6(GLI3):c.3083G>T (p.Ser1028Ile) rs79049330 0.01304
NM_000352.6(ABCC8):c.3329+6C>T rs113873225 0.01304
NM_001291303.3(FAT4):c.14135C>G (p.Ser4712Cys) rs147662558 0.01304
NM_000168.6(GLI3):c.3084C>T (p.Ser1028=) rs79703713 0.01303
NM_000552.5(VWF):c.5843-8C>G rs34444862 0.01303
NM_001142864.4(PIEZO1):c.132C>T (p.Phe44=) rs112488313 0.01303
NM_001289808.2(CRYAB):c.165G>A (p.Leu55=) rs2228387 0.01303
NM_004239.4(TRIP11):c.202-7T>A rs56034853 0.01303
NM_001844.5(COL2A1):c.1680+17C>T rs115270781 0.01302
NM_015046.7(SETX):c.6507G>A (p.Gly2169=) rs34073320 0.01300
NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser) rs116758271 0.01300
NM_000548.5(TSC2):c.3883+8C>G rs45517316 0.01297
NM_032415.7(CARD11):c.220+16C>T rs41400946 0.01297
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu) rs80026831 0.01296
NM_016156.6(MTMR2):c.1634A>G (p.Asn545Ser) rs558018 0.01295
NM_024753.5(TTC21B):c.838A>G (p.Met280Val) rs112868646 0.01295
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met) rs16866475 0.01294
NM_001365951.3(KIF1B):c.5432C>T (p.Pro1811Leu) rs61999305 0.01293
NM_003072.5(SMARCA4):c.1419+8C>T rs115492175 0.01292
NM_001035.3(RYR2):c.11988C>T (p.Gly3996=) rs56226196 0.01290
NM_003954.5(MAP3K14):c.1821+17A>C rs34171366 0.01290
NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=) rs8175351 0.01289
NM_003954.5(MAP3K14):c.1821+13A>C rs11574830 0.01289
NM_006415.4(SPTLC1):c.781-6A>G rs138268337 0.01288
NM_000209.4(PDX1):c.162G>A (p.Leu54=) rs28509441 0.01287
NM_004082.5(DCTN1):c.1288-3C>T rs72466490 0.01285
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile) rs62619924 0.01285
NM_014251.3(SLC25A13):c.1671C>T (p.Thr557=) rs79886797 0.01284
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01281
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln) rs55742743 0.01280
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) rs62636572 0.01280
NM_002296.4(LBR):c.843A>G (p.Val281=) rs61749339 0.01280
NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu) rs13027659 0.01279
NM_000093.5(COL5A1):c.2799+4T>C rs75815945 0.01279
NM_000642.3(AGL):c.3260-19G>A rs140333425 0.01279
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01276
NM_000546.6(TP53):c.639A>G (p.Arg213=) rs1800372 0.01275
NM_000077.5(CDKN2A):c.-25C>T rs144481587 0.01273
NM_000188.3(HK1):c.1266-13C>T rs114482373 0.01273
NM_000435.3(NOTCH3):c.1487C>T (p.Pro496Leu) rs11670799 0.01273
NM_003126.4(SPTA1):c.3171G>A (p.Gln1057=) rs35078963 0.01270
NM_001142864.4(PIEZO1):c.3196+19G>T rs148039351 0.01269
NM_000484.4(APP):c.1299+9T>C rs114675472 0.01268
NM_006231.4(POLE):c.6330+19G>A rs5745025 0.01268
NM_144573.4(NEXN):c.363G>A (p.Thr121=) rs35117963 0.01268
NM_182925.5(FLT4):c.3147C>T (p.Asp1049=) rs56127961 0.01268
NM_033409.4(SLC52A3):c.240C>T (p.Gly80=) rs34376836 0.01265
NM_001267550.2(TTN):c.23001G>A (p.Thr7667=) rs16866467 0.01263
NM_005228.5(EGFR):c.1881-721G>A rs17336988 0.01263
NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val) rs72647877 0.01259
NM_001110556.2(FLNA):c.2433C>T (p.Ala811=) rs35986650 0.01258
NM_017553.3(INO80):c.432C>T (p.Asp144=) rs75953315 0.01255
NM_001110556.2(FLNA):c.4598+8G>C rs112379782 0.01252
NM_000238.4(KCNH2):c.*15G>A rs41313746 0.01245
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_000540.3(RYR1):c.12012+19T>C rs181590606 0.01243
NM_005529.7(HSPG2):c.5998-7A>G rs148336692 0.01243
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys) rs116676813 0.01242
NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu) rs113247976 0.01241
NM_000069.3(CACNA1S):c.3053+13T>C rs41267501 0.01237
NM_000548.5(TSC2):c.848+276C>G rs60154230 0.01237
NM_000552.5(VWF):c.2771G>A (p.Arg924Gln) rs33978901 0.01237
NM_182961.4(SYNE1):c.10598G>A (p.Arg3533His) rs145911138 0.01237
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_002335.4(LRP5):c.4788C>T (p.Thr1596=) rs113442867 0.01233
NM_001164277.2(SLC37A4):c.149-14A>G rs79849261 0.01232
NM_001943.5(DSG2):c.217-5G>T rs80073511 0.01232
NM_002474.3(MYH11):c.3310G>A (p.Ala1104Thr) rs34263860 0.01232
NM_000435.3(NOTCH3):c.1782C>T (p.Gly594=) rs35793356 0.01231
NM_001458.5(FLNC):c.6004+19G>A rs12530507 0.01231
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273 0.01228
NM_001142864.4(PIEZO1):c.4872A>G (p.Ala1624=) rs35375982 0.01227
NM_002755.4(MAP2K1):c.711G>A (p.Gly237=) rs17586159 0.01226
NM_020297.4(ABCC9):c.3321C>T (p.Ile1107=) rs35404804 0.01226
NM_001457.4(FLNB):c.4062-5T>G rs3732632 0.01225
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=) rs9590940 0.01220
NM_014251.3(SLC25A13):c.615+36T>C rs56773234 0.01220
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala) rs73063795 0.01215
NM_001267550.2(TTN):c.100459C>T (p.Pro33487Ser) rs72629779 0.01213
NM_001844.5(COL2A1):c.2484G>C (p.Gly828=) rs1793940 0.01213
NM_000346.4(SOX9):c.-169G>A rs115615437 0.01212
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg) rs55801134 0.01212
NM_004006.3(DMD):c.3021G>A (p.Ser1007=) rs1800268 0.01212
NM_175914.5(HNF4A):c.319+19C>T rs112386711 0.01208
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584 0.01206
NM_005529.7(HSPG2):c.2558+17G>T rs74060201 0.01206
NM_020779.4(WDR35):c.1601G>A (p.Arg534Gln) rs113345685 0.01206
NM_014920.5(CILK1):c.492-20G>A rs76583105 0.01205
NM_015340.4(LARS2):c.2493G>T (p.Glu831Asp) rs9827689 0.01205
NM_000238.4(KCNH2):c.1332G>A (p.Glu444=) rs9770044 0.01204
NM_002693.3(POLG):c.2254C>T (p.Leu752=) rs41564016 0.01204
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725 0.01203
NM_020435.4(GJC2):c.108C>T (p.Ile36=) rs75469429 0.01203
NM_005379.4(MYO1A):c.1277C>T (p.Pro426Leu) rs4759043 0.01201
NM_206933.4(USH2A):c.5572+15G>A rs17026052 0.01200
NM_017617.5(NOTCH1):c.5679C>T (p.Gly1893=) rs2229973 0.01198
NM_001267550.2(TTN):c.1003G>A (p.Val335Met) rs72647846 0.01195
NM_005026.5(PIK3CD):c.2319C>T (p.Ser773=) rs139848768 0.01195
NM_058216.3(RAD51C):c.90G>A (p.Ala30=) rs115414895 0.01193
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913 0.01192
NM_001267550.2(TTN):c.98595A>G (p.Glu32865=) rs55977045 0.01192
NM_001276345.2(TNNT2):c.42-20G>A rs45561443 0.01192
NM_022489.4(INF2):c.42G>A (p.Leu14=) rs62638758 0.01192
NM_206933.4(USH2A):c.688G>A (p.Val230Met) rs45500891 0.01191
NM_015340.4(LARS2):c.2124T>C (p.Ser708=) rs34459812 0.01189
NM_001039213.4(CEACAM16):c.1278A>G (p.Ter426=) rs146757817 0.01185
NM_001267550.2(TTN):c.11719C>G (p.Leu3907Val) rs55853696 0.01185
NM_022489.4(INF2):c.3153C>T (p.Asp1051=) rs117457867 0.01185
NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691 0.01184
NM_001267550.2(TTN):c.32254G>A (p.Val10752Ile) rs72650028 0.01184
NM_001267550.2(TTN):c.69585C>T (p.Ser23195=) rs67041405 0.01183
NM_020297.4(ABCC9):c.789C>T (p.Cys263=) rs58386780 0.01183
NM_152703.5(SAMD9L):c.866T>C (p.Phe289Ser) rs2073793 0.01183
NM_000352.6(ABCC8):c.4728C>T (p.Phe1576=) rs73419228 0.01181
NM_005529.7(HSPG2):c.5997+5G>C rs59720663 0.01179
NM_000292.3(PHKA2):c.718-3C>T rs140662042 0.01175
NM_001184.4(ATR):c.5739-7_5739-6del rs72371423 0.01173
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg) rs17355460 0.01172
NM_000193.4(SHH):c.630C>T (p.Gly210=) rs9333634 0.01171
NM_001267550.2(TTN):c.1398+8C>T rs72647848 0.01171
NM_000093.5(COL5A1):c.5190C>T (p.Phe1730=) rs61729481 0.01170
NM_001291303.3(FAT4):c.9876G>A (p.Gly3292=) rs115219562 0.01168
NM_153717.3(EVC):c.1464+8A>G rs116236414 0.01163
NM_017617.5(NOTCH1):c.2664C>T (p.His888=) rs61751548 0.01162
NM_004415.4(DSP):c.3963G>A (p.Gln1321=) rs61731476 0.01161
NM_153717.3(EVC):c.2373G>A (p.Gln791=) rs73795089 0.01161
NM_000257.4(MYH7):c.3972+15C>T rs3729820 0.01159
NM_153717.3(EVC):c.2363G>A (p.Arg788His) rs73795088 0.01159
NM_003239.5(TGFB3):c.1122C>G (p.Ala374=) rs4252345 0.01156
NM_181078.3(IL21R):c.531A>G (p.Ser177=) rs3093369 0.01155
NM_001374353.1(GLI2):c.1710G>A (p.Thr570=) rs61732852 0.01154
NM_000071.3(CBS):c.829-91G>A rs150181241 0.01153
NM_032578.4(MYPN):c.3279C>T (p.Asp1093=) rs115033934 0.01152
NM_001142864.4(PIEZO1):c.263A>G (p.Asp88Gly) rs141202337 0.01151
NM_001267550.2(TTN):c.95555T>C (p.Leu31852Pro) rs62621206 0.01151
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) rs1800058 0.01150
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr) rs55880440 0.01150
NM_001040108.2(MLH3):c.1258G>A (p.Val420Ile) rs28756982 0.01142
NM_001267550.2(TTN):c.36489G>A (p.Ala12163=) rs115493456 0.01140
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148 0.01138
NM_006231.4(POLE):c.2174-8G>A rs117409343 0.01137
NM_206933.4(USH2A):c.3945T>C (p.Asn1315=) rs41303257 0.01136
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=) rs11574895 0.01135
NM_000038.6(APC):c.7201C>T (p.Leu2401=) rs2229994 0.01134
NM_001130823.3(DNMT1):c.206G>A (p.Arg69His) rs61750053 0.01134
NM_002474.3(MYH11):c.2412-9C>A rs148682361 0.01132
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr) rs72646809 0.01131
NM_001711.6(BGN):c.257A>G (p.Lys86Arg) rs146073993 0.01131
NM_020779.4(WDR35):c.3019C>T (p.Arg1007Cys) rs56395266 0.01130
NM_032119.4(ADGRV1):c.14517+18A>G rs75316546 0.01129
NM_032119.4(ADGRV1):c.8407G>A (p.Ala2803Thr) rs111033530 0.01127
NM_017636.4(TRPM4):c.3082C>T (p.Leu1028=) rs79286201 0.01125
NM_000132.4(F8):c.1086G>A (p.Ala362=) rs1800289 0.01123
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896 0.01123
NM_004990.4(MARS1):c.2532G>A (p.Ala844=) rs73344102 0.01123
NM_006070.6(TFG):c.552G>A (p.Ala184=) rs35648279 0.01123
NM_001035.3(RYR2):c.10230+20T>C rs74323916 0.01122
NM_001308093.3(GATA4):c.1141G>A (p.Val381Met) rs114868912 0.01121
NM_002386.4(MC1R):c.880G>C (p.Asp294His) rs1805009 0.01121
NM_005529.7(HSPG2):c.9790A>G (p.Ile3264Val) rs139500146 0.01121
NM_000090.4(COL3A1):c.3525+19del rs138061246 0.01120
NM_001267550.2(TTN):c.16095C>T (p.Asn5365=) rs72648935 0.01116
NM_004333.6(BRAF):c.-19C>T rs71645935 0.01115
NM_000088.4(COL1A1):c.2175C>T (p.Gly725=) rs35017779 0.01114
NM_004168.4(SDHA):c.822C>T (p.Gly274=) rs34771391 0.01114
NM_000478.6(ALPL):c.1542G>T (p.Ala514=) rs3200256 0.01113
NM_000051.4(ATM):c.6572+12G>T rs3218677 0.01112
NM_001291303.3(FAT4):c.8842A>G (p.Ile2948Val) rs76048257 0.01112
NM_004239.4(TRIP11):c.3118A>G (p.Ile1040Val) rs34805848 0.01111
NM_002691.4(POLD1):c.2862G>C (p.Thr954=) rs3219440 0.01109
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_153676.4(USH1C):c.819+10G>C rs41282936 0.01105
NM_004239.4(TRIP11):c.3714G>A (p.Glu1238=) rs34919898 0.01101
NM_005529.7(HSPG2):c.1999-13C>T rs77828146 0.01100
NM_001142864.4(PIEZO1):c.6963C>T (p.Asn2321=) rs35917730 0.01098
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu) rs61733587 0.01098
NM_005422.4(TECTA):c.4533C>T (p.Phe1511=) rs77628498 0.01098
NM_001943.5(DSG2):c.3243C>T (p.Val1081=) rs11542379 0.01097
NM_001365951.3(KIF1B):c.4798G>A (p.Val1600Met) rs77172218 0.01096
NM_018706.7(DHTKD1):c.2523C>T (p.Phe841=) rs12769375 0.01095
NM_001035.3(RYR2):c.6440+20C>T rs115755128 0.01092
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln) rs3219497 0.01092
NM_000264.5(PTCH1):c.2199A>G (p.Ser733=) rs2227970 0.01091
NM_006182.4(DDR2):c.83-4C>T rs76156815 0.01091
NM_001159773.2(CANT1):c.967G>A (p.Ala323Thr) rs9903215 0.01090
NM_000264.5(PTCH1):c.3606C>T (p.Pro1202=) rs138240178 0.01089
NM_014251.3(SLC25A13):c.93T>C (p.Gly31=) rs78430478 0.01089
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084 0.01088
NM_000321.3(RB1):c.380+12T>C rs3092881 0.01087
NM_000051.4(ATM):c.735C>T (p.Val245=) rs3218674 0.01085
NM_002691.4(POLD1):c.849G>T (p.Gln283His) rs113282414 0.01085
NM_005184.4(CALM3):c.-14C>A rs201296349 0.01085
NM_001110556.2(FLNA):c.869-7C>T rs143311779 0.01084
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
NM_000218.3(KCNQ1):c.477+9C>T rs28730664 0.01080
NM_000254.3(MTR):c.3599-10C>A rs41530146 0.01080
NM_001267550.2(TTN):c.105787G>T (p.Ala35263Ser) rs67254537 0.01080
NM_024301.5(FKRP):c.585C>T (p.Asp195=) rs75079578 0.01080
NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val) rs66961115 0.01079
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp) rs36021856 0.01079
NM_002180.3(IGHMBP2):c.2439G>A (p.Ala813=) rs624147 0.01079
NM_004006.3(DMD):c.1225A>T (p.Thr409Ser) rs34155804 0.01079
NM_000459.5(TEK):c.2454G>C (p.Val818=) rs55789591 0.01078
NM_181882.3(PRX):c.3218A>G (p.Glu1073Gly) rs61733451 0.01078
NM_001142864.4(PIEZO1):c.3363A>G (p.Thr1121=) rs35100558 0.01077
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01077
NM_001042492.3(NF1):c.7755C>T (p.Ser2585=) rs17881980 0.01075
NM_001267550.2(TTN):c.104769A>C (p.Thr34923=) rs56375087 0.01075
NM_001142864.4(PIEZO1):c.5769C>T (p.Ala1923=) rs2340977 0.01074
NM_017636.4(TRPM4):c.322C>T (p.Arg108Cys) rs115335683 0.01074
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile) rs55842557 0.01073
NM_024753.5(TTC21B):c.2742C>T (p.Cys914=) rs73018799 0.01072
NM_022489.4(INF2):c.1452T>C (p.Cys484=) rs371775604 0.01071
NM_000448.3(RAG1):c.1346G>A (p.Arg449Lys) rs4151031 0.01070
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu) rs34629171 0.01070
NM_006005.3(WFS1):c.1800C>T (p.Thr600=) rs71524362 0.01070
NM_001267550.2(TTN):c.11019C>T (p.Cys3673=) rs72955212 0.01069
NM_001365951.3(KIF1B):c.4086T>C (p.Asp1362=) rs116089798 0.01068
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser) rs1805069 0.01068
NM_181882.3(PRX):c.1483G>C (p.Glu495Gln) rs146789340 0.01068
NM_000352.6(ABCC8):c.4119+18A>G rs75967811 0.01067
NM_015702.3(MMADHC):c.412G>A (p.Glu138Lys) rs61746421 0.01067
NM_001276345.2(TNNT2):c.294+7G>A rs45490292 0.01066
NM_015702.3(MMADHC):c.428G>T (p.Ser143Ile) rs34886916 0.01066
NM_000091.5(COL4A3):c.2501A>G (p.Lys834Arg) rs56226424 0.01064
NM_001005361.3(DNM2):c.2484G>A (p.Pro828=) rs114682382 0.01064
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) rs2230288 0.01061
NM_000431.4(MVK):c.831C>T (p.Arg277=) rs104895353 0.01061
NM_032578.4(MYPN):c.2447C>T (p.Pro816Leu) rs111965755 0.01059
NM_000059.4(BRCA2):c.8487+19A>G rs11571743 0.01055
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_001040108.2(MLH3):c.2896T>C (p.Ser966Pro) rs17782839 0.01052
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_001145809.2(MYH14):c.2841C>T (p.Arg947=) rs138987081 0.01050
NM_001291303.3(FAT4):c.13605G>A (p.Lys4535=) rs75469760 0.01048
NM_002471.4(MYH6):c.2946G>A (p.Glu982=) rs145274612 0.01048
NM_007215.4(POLG2):c.1247G>C (p.Gly416Ala) rs17850455 0.01048
NM_000451.4(SHOX):c.870G>A (p.Leu290=) rs746391025 0.01047
NM_001164277.2(SLC37A4):c.1275C>T (p.Ser425=) rs35010541 0.01045
NM_001148.6(ANK2):c.3893+10T>C rs72556367 0.01042
NM_001267550.2(TTN):c.4347A>G (p.Ser1449=) rs719202 0.01042
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330 0.01037
NM_001184.4(ATR):c.891G>C (p.Lys297Asn) rs2229033 0.01036
NM_001370466.1(NOD2):c.2288G>A (p.Arg763Gln) rs5743279 0.01035
NM_001184.4(ATR):c.4002G>A (p.Gln1334=) rs56026468 0.01034
NM_003072.5(SMARCA4):c.1114T>C (p.Tyr372His) rs140192268 0.01034
NM_033409.4(SLC52A3):c.521A>G (p.Asp174Gly) rs6054614 0.01033
NM_000098.3(CPT2):c.1767G>A (p.Thr589=) rs77565483 0.01032
NM_001035.3(RYR2):c.11880+13_11880+16del rs199562036 0.01032
NM_053025.4(MYLK):c.1327C>T (p.Pro443Ser) rs35156360 0.01032
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544 0.01031
NM_001267550.2(TTN):c.84453A>G (p.Pro28151=) rs73036373 0.01031
NM_001370466.1(NOD2):c.1372C>T (p.Leu458=) rs5743274 0.01031
NM_001458.5(FLNC):c.2266-14G>C rs75612085 0.01030
NM_000193.4(SHH):c.301-131C>T rs9333618 0.01029
NM_001035.3(RYR2):c.2397-6C>T rs78165942 0.01029
NM_003924.4(PHOX2B):c.552C>T (p.Ser184=) rs17885216 0.01029
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555 0.01028
NM_000352.6(ABCC8):c.2538C>T (p.His846=) rs73423037 0.01028
NM_020975.6(RET):c.868-18G>A rs57098408 0.01028
NM_000218.3(KCNQ1):c.1394-14C>T rs28730758 0.01027
NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) rs41317925 0.01027
NM_002474.3(MYH11):c.387A>G (p.Lys129=) rs78754138 0.01024
NM_004415.4(DSP):c.3510G>A (p.Glu1170=) rs28763964 0.01023
NM_000484.4(APP):c.1224+20C>T rs45543035 0.01021
NM_001145809.2(MYH14):c.5466G>A (p.Leu1822=) rs10419343 0.01020
NM_001184.4(ATR):c.5868C>T (p.Tyr1956=) rs112018640 0.01020
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile) rs72646850 0.01020
NM_004006.3(DMD):c.31+36949C>T rs182597890 0.01020
NM_002474.3(MYH11):c.4401C>T (p.Tyr1467=) rs8046180 0.01019
NM_007294.4(BRCA1):c.212+23T>A rs8176128 0.01018
NM_181426.2(CCDC39):c.2278A>G (p.Thr760Ala) rs79386936 0.01017
NM_001042492.3(NF1):c.1845+13A>T rs17885739 0.01016
NM_000548.5(TSC2):c.4959C>T (p.Ser1653=) rs45517384 0.01015
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met) rs73038314 0.01013
NM_001267550.2(TTN):c.19004A>G (p.Asp6335Gly) rs72648951 0.01012
NM_000352.6(ABCC8):c.423G>A (p.Val141=) rs116132921 0.01009
NM_004006.3(DMD):c.3734C>T (p.Thr1245Ile) rs1800269 0.01009
NM_001382430.1(AKT1):c.1251C>T (p.Tyr417=) rs139297659 0.01008
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318 0.01006
NM_001081.4(CUBN):c.8741C>T (p.Ala2914Val) rs45551835 0.01006
NM_031475.3(ESPN):c.1265G>A (p.Arg422Gln) rs79108571 0.01005
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=) rs55961436 0.01005
NM_001244008.2(KIF1A):c.363+16C>T rs7594569 0.01003
NM_001308093.3(GATA4):c.1026T>C (p.Pro342=) rs56206007 0.01003
NM_002335.4(LRP5):c.4574C>T (p.Ala1525Val) rs1127291 0.01003
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser) rs140740776 0.01003
NM_000388.4(CASR):c.2610G>A (p.Glu870=) rs143738711 0.01002
NM_000441.2(SLC26A4):c.1002-9A>C rs10234822 0.01002
NM_001079802.2(FKTN):c.42G>A (p.Thr14=) rs78794935 0.01002
NM_000342.4(SLC4A1):c.2100C>T (p.Ser700=) rs5024 0.01001
NM_004006.3(DMD):c.8668+19A>G rs148241865 0.01001
NM_032119.4(ADGRV1):c.3559A>G (p.Ile1187Val) rs16868935 0.01001
NM_001079802.2(FKTN):c.106-10G>A rs148384394 0.01000
NM_017617.5(NOTCH1):c.6648G>A (p.Pro2216=) rs3812596 0.01000
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe) rs140118273 0.00997
NM_001142864.4(PIEZO1):c.3700-12G>T rs2340979 0.00997
NM_001244008.2(KIF1A):c.2385C>T (p.Ala795=) rs62637652 0.00997
NM_005529.7(HSPG2):c.5742C>T (p.His1914=) rs62642522 0.00995
NM_153717.3(EVC):c.385-16C>T rs113571700 0.00995
NM_001457.4(FLNB):c.6017A>G (p.Lys2006Arg) rs62621996 0.00994
NM_014208.3(DSPP):c.3561T>C (p.Ser1187=) rs369987019 0.00994
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln) rs199644078 0.00993
NM_014920.5(CILK1):c.690T>C (p.Leu230=) rs113315648 0.00993
NM_001999.4(FBN2):c.2778C>T (p.Ala926=) rs28763948 0.00992
NM_017617.5(NOTCH1):c.1665G>A (p.Thr555=) rs148331061 0.00992
NM_213599.3(ANO5):c.1029C>T (p.Asp343=) rs78899595 0.00992
NM_004130.4(GYG1):c.319-12C>T rs114156848 0.00990
NM_000435.3(NOTCH3):c.*23T>A rs73504084 0.00989
NM_001035.3(RYR2):c.13977G>A (p.Glu4659=) rs78369334 0.00989
NM_003200.5(TCF3):c.302A>G (p.Lys101Arg) rs41275842 0.00989
NM_000208.4(INSR):c.1098T>C (p.Ser366=) rs2229435 0.00988
NM_017553.3(INO80):c.2577-17A>T rs192836335 0.00988
NM_002148.4(HOXD10):c.*2T>C rs116807022 0.00985
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
NM_005477.3(HCN4):c.3337A>G (p.Met1113Val) rs142735148 0.00983
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549 0.00981
NM_004006.3(DMD):c.6322C>T (p.Arg2108Cys) rs16990169 0.00981
NM_001130823.3(DNMT1):c.3939C>T (p.Gly1313=) rs142903301 0.00977
NM_005529.7(HSPG2):c.5702-5G>A rs2290498 0.00977
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn) rs35287723 0.00977
NM_002691.4(POLD1):c.1761C>T (p.Ile587=) rs3218755 0.00976
NM_004360.5(CDH1):c.933C>G (p.Leu311=) rs35539711 0.00974
NM_000038.6(APC):c.1312+27G>A rs74975092 0.00973
NM_002661.5(PLCG2):c.82A>T (p.Met28Leu) rs61749044 0.00973
NM_016203.4(PRKAG2):c.*3G>A rs113234987 0.00973
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966 0.00972
NM_001151.4(SLC25A4):c.681G>A (p.Val227=) rs34486484 0.00972
NM_006767.4(LZTR1):c.2219+13C>T rs144005025 0.00972
NM_052867.4(NALCN):c.2192+5C>T rs41281140 0.00972
NM_000540.3(RYR1):c.7737G>A (p.Val2579=) rs114975624 0.00971
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln) rs34819099 0.00971
NM_001605.3(AARS1):c.2900A>T (p.Lys967Met) rs35744709 0.00971
NM_213599.3(ANO5):c.604G>A (p.Glu202Lys) rs115750596 0.00971
NM_001972.3(ELANE):c.-41C>A rs17216614 0.00970
NM_000222.3(KIT):c.67+4G>A rs72550820 0.00969
NM_153676.4(USH1C):c.387+17C>T rs78718533 0.00969
NM_153717.3(EVC):c.2505G>A (p.Ser835=) rs115976359 0.00969
NM_000558.5(HBA1):c.-42C>T rs370305736 0.00968
NM_006892.4(DNMT3B):c.1150G>A (p.Ala384Thr) rs150682895 0.00967
NM_001267550.2(TTN):c.82575G>A (p.Thr27525=) rs11896779 0.00966
NM_133379.5(TTN):c.16650T>C (p.Asp5550=) rs16866488 0.00966
NM_002485.5(NBN):c.1124+19C>T rs13312903 0.00965
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018 0.00964
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_000719.7(CACNA1C):c.5604A>G (p.Gln1868=) rs11062316 0.00963
NM_206933.4(USH2A):c.13763C>A (p.Ser4588Tyr) rs78253373 0.00962
NM_001142864.4(PIEZO1):c.6294C>T (p.Tyr2098=) rs35015310 0.00960
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139 0.00960
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=) rs61734313 0.00959
NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu) rs2227968 0.00959
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=) rs34617762 0.00959
NM_002473.6(MYH9):c.1108+9C>T rs145751072 0.00959
NM_015512.5(DNAH1):c.6191A>G (p.Asn2064Ser) rs145673040 0.00959
NM_001267550.2(TTN):c.17741-9A>G rs72648944 0.00958
NM_006231.4(POLE):c.2928C>T (p.Arg976=) rs5744845 0.00958
NM_177438.3(DICER1):c.1935G>A (p.Pro645=) rs61751177 0.00958
NM_032119.4(ADGRV1):c.1839+7G>A rs142011700 0.00957
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439 0.00956
NM_001498.4(GCLC):c.528A>G (p.Pro176=) rs34307437 0.00956
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_001148.6(ANK2):c.11790C>T (p.Ile3930=) rs45517840 0.00954
NM_182925.5(FLT4):c.3962G>A (p.Arg1321Gln) rs79620092 0.00954
NM_000398.7(CYB5R3):c.21+4827C>T rs8190406 0.00953
NM_001005361.3(DNM2):c.235+12C>A rs147026993 0.00953
NM_001142864.4(PIEZO1):c.7152C>T (p.Gly2384=) rs78114078 0.00953
NM_005529.7(HSPG2):c.9540G>A (p.Ala3180=) rs62642506 0.00953
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970 0.00952
NM_020631.6(PLEKHG5):c.2331C>T (p.Ser777=) rs61749272 0.00952
NM_022114.4(PRDM16):c.783C>T (p.Tyr261=) rs61756439 0.00952
NM_022124.6(CDH23):c.1038G>A (p.Pro346=) rs74608315 0.00950
NM_006231.4(POLE):c.5583A>C (p.Ser1861=) rs5744972 0.00949
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=) rs61748766 0.00948
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209 0.00948
NM_000552.5(VWF):c.7698G>A (p.Lys2566=) rs16932285 0.00947
NM_024753.5(TTC21B):c.2462-19A>C rs146509360 0.00946
NM_000286.3(PEX12):c.733T>A (p.Leu245Ile) rs12941376 0.00945
NM_001972.4(ELANE):c.655G>A (p.Val219Ile) rs17216656 0.00945
NM_001035.3(RYR2):c.2204-7C>G rs147479514 0.00944
NM_005529.7(HSPG2):c.831C>T (p.Pro277=) rs41310388 0.00944
NM_001457.4(FLNB):c.1919C>T (p.Thr640Met) rs62621999 0.00943
NM_033100.4(CDHR1):c.240C>T (p.Val80=) rs11593005 0.00943
NM_007078.3(LDB3):c.1506G>A (p.Pro502=) rs45579241 0.00941
NM_031475.3(ESPN):c.1069C>T (p.Pro357Ser) rs116413227 0.00941
NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr) rs11807956 0.00940
NM_004415.4(DSP):c.6390T>C (p.Ala2130=) rs28763969 0.00940
NM_021625.5(TRPV4):c.33G>T (p.Gly11=) rs56092423 0.00939
NM_002386.4(MC1R):c.586T>C (p.Phe196Leu) rs3212366 0.00938
NM_017617.5(NOTCH1):c.7515T>G (p.Pro2505=) rs34152221 0.00938
NM_005957.5(MTHFR):c.1476G>A (p.Pro492=) rs35653697 0.00937
NM_005475.3(SH2B3):c.544T>C (p.Phe182Leu) rs7972796 0.00936
NM_002661.5(PLCG2):c.3482-3C>T rs74856898 0.00935
NM_003126.4(SPTA1):c.6530+15A>T rs78561085 0.00935
NM_005477.3(HCN4):c.3033T>G (p.Ser1011=) rs186728422 0.00931
NM_004655.4(AXIN2):c.1573C>G (p.Pro525Ala) rs73346297 0.00930
NM_000546.6(TP53):c.1100+30A>T rs17880847 0.00929
NM_170707.4(LMNA):c.1158-44C>T rs141879453 0.00929
NM_001127511.3(APC):c.78C>A (p.Ser26Arg) rs113782655 0.00928
NM_001308093.3(GATA4):c.1116A>G (p.Ser372=) rs112435835 0.00928
NM_006017.3(PROM1):c.55T>G (p.Ser19Ala) rs189108830 0.00928
NM_004360.5(CDH1):c.-71C>G rs34033771 0.00927
NM_002661.5(PLCG2):c.3726C>A (p.Leu1242=) rs76506409 0.00926
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_006182.4(DDR2):c.699C>T (p.Thr233=) rs56351141 0.00925
NM_000093.5(COL5A1):c.4699-6C>T rs113090154 0.00923
NM_001005361.3(DNM2):c.1782-11C>T rs78580529 0.00921
NM_000384.3(APOB):c.2244+3G>A rs12714189 0.00920
NM_001037.5(SCN1B):c.591-14C>A rs28365109 0.00920
NM_020366.4(RPGRIP1):c.256C>T (p.Arg86Trp) rs62646879 0.00919
NM_024675.4(PALB2):c.925A>G (p.Ile309Val) rs3809683 0.00919
NM_032578.4(MYPN):c.1245+20A>G rs111634581 0.00919
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176 0.00917
NM_001943.5(DSG2):c.1543G>A (p.Val515Ile) rs2230235 0.00917
NM_025132.4(WDR19):c.1607G>C (p.Ser536Thr) rs115348383 0.00917
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=) rs62178963 0.00915
NM_004444.5(EPHB4):c.1743T>C (p.Tyr581=) rs116240595 0.00915
NM_000090.4(COL3A1):c.80-16C>T rs28763875 0.00914
NM_000552.5(VWF):c.5313G>T (p.Gly1771=) rs2229448 0.00914
NM_000249.4(MLH1):c.1959G>T (p.Leu653=) rs1800146 0.00913
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_000283.4(PDE6B):c.496G>A (p.Glu166Lys) rs115775983 0.00911
NM_001151.4(SLC25A4):c.567T>C (p.Ala189=) rs149101873 0.00911
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528 0.00910
NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu) rs72629787 0.00909
NM_000719.7(CACNA1C):c.771C>T (p.Val257=) rs112315742 0.00908
NM_001042492.3(NF1):c.2022C>T (p.Ser674=) rs2230851 0.00908
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109 0.00907
NM_000552.5(VWF):c.4196G>A (p.Arg1399His) rs1800382 0.00907
NM_005413.4(SIX3):c.525G>A (p.Gln175=) rs116680477 0.00907
NM_015915.5(ATL1):c.35-14G>A rs115722924 0.00906
NM_021939.4(FKBP10):c.1256+14G>C rs202121419 0.00906
NM_003098.3(SNTA1):c.317G>A (p.Arg106Gln) rs75025585 0.00904
NM_147127.5(EVC2):c.1311A>G (p.Leu437=) rs77131452 0.00904
NM_018474.6(KIZ):c.509T>G (p.Met170Arg) rs75984134 0.00902
NM_005529.7(HSPG2):c.10702G>A (p.Val3568Ile) rs115616224 0.00899
NM_005529.7(HSPG2):c.13119C>T (p.Pro4373=) rs2229477 0.00898
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr) rs5744991 0.00898
NM_022114.4(PRDM16):c.3109+10G>A rs7549401 0.00898
NM_001854.4(COL11A1):c.4606C>G (p.Pro1536Ala) rs139064549 0.00897
NM_005529.7(HSPG2):c.1167C>T (p.Asp389=) rs145101074 0.00897
NM_006206.6(PDGFRA):c.236G>A (p.Gly79Asp) rs36035373 0.00897
NM_024301.5(FKRP):c.249C>T (p.Ala83=) rs149030303 0.00897
NM_000157.4(GBA1):c.762-18T>A rs140335079 0.00896
NM_001384140.1(PCDH15):c.92-493A>T rs77290854 0.00896
NM_004239.4(TRIP11):c.5651A>G (p.His1884Arg) rs74071672 0.00895
NM_004168.4(SDHA):c.549C>T (p.Gly183=) rs61733344 0.00892
NM_002693.3(POLG):c.1586-5del rs2307434 0.00891
NM_000256.3(MYBPC3):c.655-18G>A rs113249211 0.00890
NM_194248.3(OTOF):c.710+10C>T rs55639868 0.00890
NM_000548.5(TSC2):c.4990-7C>T rs45457095 0.00888
NM_000342.4(SLC4A1):c.1239C>T (p.Tyr413=) rs5014 0.00887
NM_001999.4(FBN2):c.1466-5C>T rs28763952 0.00887
NM_025132.4(WDR19):c.2096G>A (p.Arg699Gln) rs138529452 0.00883
NM_020975.6(RET):c.375C>A (p.Val125=) rs1800859 0.00877
NM_001382430.1(AKT1):c.1179C>T (p.Gly393=) rs11555434 0.00876
NM_000540.3(RYR1):c.10259+7G>A rs143752962 0.00875
NM_020529.3(NFKBIA):c.243C>T (p.Ala81=) rs2233412 0.00874
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235 0.00873
NM_001142864.4(PIEZO1):c.7530G>A (p.Pro2510=) rs115423293 0.00871
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His) rs34600572 0.00870
NM_005529.7(HSPG2):c.5442G>A (p.Leu1814=) rs115087461 0.00870
NM_018979.4(WNK1):c.5468C>T (p.Pro1823Leu) rs17755373 0.00870
NM_001033855.3(DCLRE1C):c.227G>C (p.Arg76Thr) rs41296438 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_001244008.2(KIF1A):c.184-10C>T rs7594776 0.00865
NM_000243.3(MEFV):c.2118G>A (p.Pro706=) rs2234939 0.00864
NM_001024630.4(RUNX2):c.1531G>A (p.Gly511Ser) rs11498198 0.00864
NM_001276345.2(TNNT2):c.68-8A>G rs115805892 0.00864
NM_147127.5(EVC2):c.692A>G (p.Lys231Arg) rs114024753 0.00863
NM_001244008.2(KIF1A):c.4812C>A (p.Thr1604=) rs76974316 0.00862
NM_001321120.2(TBX4):c.104C>T (p.Ala35Val) rs148424252 0.00862
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) rs1800056 0.00861
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823 0.00861
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_004100.5(EYA4):c.905G>A (p.Gly302Asp) rs75133151 0.00860
NM_000138.5(FBN1):c.3965-8T>C rs140637 0.00859
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=) rs41311123 0.00859
NM_005228.5(EGFR):c.1509C>T (p.Gly503=) rs17336800 0.00859
NM_000059.4(BRCA2):c.7806-40A>G rs9590939 0.00858
NM_000398.7(CYB5R3):c.297C>T (p.Ser99=) rs150701311 0.00856
NM_004100.5(EYA4):c.1845C>T (p.Asn615=) rs142721902 0.00854
NM_017617.5(NOTCH1):c.1635C>T (p.Asp545=) rs11574889 0.00854
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala) rs34799090 0.00854
NM_000257.4(MYH7):c.597A>G (p.Ala199=) rs2069541 0.00853
NM_000478.6(ALPL):c.1119C>T (p.Thr373=) rs112335417 0.00852
NM_006306.4(SMC1A):c.2197-5T>C rs2297104 0.00852
NM_005228.5(EGFR):c.2047C>T (p.Leu683=) rs55669340 0.00851
NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg) rs73074138 0.00851
NM_021254.4(CFAP298):c.308-16C>G rs140374402 0.00850
NM_000546.6(TP53):c.97-6C>T rs35117667 0.00847
NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val) rs75937132 0.00847
NM_017668.3(NDE1):c.*384C>T rs193005461 0.00847
NM_025132.4(WDR19):c.1581C>A (p.Thr527=) rs114689848 0.00847
NM_000088.4(COL1A1):c.1615-4C>A rs41316657 0.00846
NM_002617.4(PEX10):c.843G>A (p.Arg281=) rs35082957 0.00846
NM_001384140.1(PCDH15):c.3532G>A (p.Val1178Ile) rs147835286 0.00845
NM_181426.2(CCDC39):c.2660dup (p.Ser888fs) rs200353947 0.00844
NM_001458.5(FLNC):c.2390-14C>T rs71581921 0.00843
NM_000384.3(APOB):c.2604+15G>C rs72653066 0.00842
NM_001458.5(FLNC):c.6771A>G (p.Pro2257=) rs34422412 0.00842
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met) rs115582213 0.00841
NM_024334.3(TMEM43):c.222C>T (p.Pro74=) rs34099410 0.00841
NM_001370466.1(NOD2):c.1752C>T (p.Ala584=) rs61736932 0.00840
NM_004333.6(BRAF):c.1315-18T>G rs6959000 0.00840
NM_000435.3(NOTCH3):c.3143-29C>T rs137943075 0.00839
NM_001244008.2(KIF1A):c.3063+17C>T rs116040950 0.00839
NM_198253.3(TERT):c.1659C>T (p.Val553=) rs35809415 0.00838
NM_003072.5(SMARCA4):c.930C>A (p.Arg310=) rs146141457 0.00837
NM_001365088.1(SLC12A6):c.408T>C (p.Phe136=) rs145186782 0.00836
NM_001370466.1(NOD2):c.460-3T>C rs141833420 0.00836
NM_004239.4(TRIP11):c.2134G>A (p.Glu712Lys) rs143524436 0.00835
NM_000095.3(COMP):c.1956C>T (p.Asn652=) rs10421797 0.00834
NM_001374353.1(GLI2):c.1818C>A (p.Gly606=) rs61732850 0.00832
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072 0.00832
NM_004984.4(KIF5A):c.2023+18C>T rs192960012 0.00832
NM_024422.6(DSC2):c.351A>G (p.Thr117=) rs117812913 0.00832
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=) rs2754155 0.00831
NM_001276345.2(TNNT2):c.610-81C>T rs28730745 0.00831
NM_001267550.2(TTN):c.33340+10T>C rs72650039 0.00830
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp) rs72563785 0.00830
NM_020631.6(PLEKHG5):c.30C>T (p.Asp10=) rs114209691 0.00830
NM_206933.4(USH2A):c.14333C>A (p.Ala4778Asp) rs113447586 0.00830
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys) rs55861600 0.00828
NM_005251.3(FOXC2):c.435C>T (p.Tyr145=) rs79452610 0.00828
NM_005529.7(HSPG2):c.12801G>T (p.Gly4267=) rs79386413 0.00828
NM_012062.5(DNM1L):c.1470A>G (p.Glu490=) rs79393011 0.00828
NM_175614.5(NDUFA11):c.48C>T (p.Thr16=) rs146562956 0.00828
NM_000264.5(PTCH1):c.1641C>T (p.Ser547=) rs2066830 0.00827
NM_001142864.4(PIEZO1):c.5853C>T (p.His1951=) rs138735419 0.00827
NM_001379610.1(SPINK1):c.231G>A (p.Gly77=) rs34809998 0.00827
NM_003924.4(PHOX2B):c.750G>A (p.Ala250=) rs17882335 0.00827
NM_012472.6(DNAAF11):c.1162G>A (p.Gly388Ser) rs77289466 0.00827
NM_000429.3(MAT1A):c.169+14G>A rs117321518 0.00826
NM_000552.5(VWF):c.5277C>T (p.Asp1759=) rs41276736 0.00826
NM_001267550.2(TTN):c.71940G>A (p.Leu23980=) rs72646893 0.00826
NM_001267550.2(TTN):c.79689C>A (p.Val26563=) rs10185798 0.00826
NM_000051.4(ATM):c.8419-19A>G rs12279930 0.00824
NM_000435.3(NOTCH3):c.2566+24G>T rs151276393 0.00824
NM_000548.5(TSC2):c.1110G>A (p.Gln370=) rs1800742 0.00823
NM_001457.4(FLNB):c.-31C>T rs138060096 0.00823
NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr) rs36210417 0.00822
NM_002755.4(MAP2K1):c.-2A>G rs77796976 0.00820
NM_002230.4(JUP):c.2047-14C>G rs116666639 0.00819
NM_002880.4(RAF1):c.1669-13T>C rs147475396 0.00819
NM_133259.4(LRPPRC):c.79C>T (p.Leu27Phe) rs116727742 0.00819
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317 0.00818
NM_020779.4(WDR35):c.1089G>A (p.Thr363=) rs79829477 0.00817
NM_001365088.1(SLC12A6):c.1284C>T (p.Asn428=) rs34098566 0.00816
NM_004239.4(TRIP11):c.1517A>C (p.Glu506Ala) rs2273186 0.00816
NM_003073.5(SMARCB1):c.362+7C>T rs34746244 0.00815
NM_018979.4(WNK1):c.5991G>A (p.Glu1997=) rs61736907 0.00815
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=) rs150138016 0.00815
NM_174936.4(PCSK9):c.141C>T (p.Ser47=) rs28385701 0.00815
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982 0.00814
NM_000552.5(VWF):c.7887+12T>C rs55687637 0.00814
NM_003072.5(SMARCA4):c.4768+15G>C rs113131294 0.00813
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys) rs45578741 0.00813
NM_001148.6(ANK2):c.3379+12T>G rs139528815 0.00812
NM_001355436.2(SPTB):c.609G>A (p.Lys203=) rs74666863 0.00811
NM_005422.4(TECTA):c.6250+4T>C rs143302176 0.00811
NM_001386125.1(OBSCN):c.11984C>T (p.Pro3995Leu) rs62621834 0.00810
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) rs114152068 0.00810
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301 0.00809
NM_033409.4(SLC52A3):c.9C>T (p.Phe3=) rs139486822 0.00809
NM_001079802.2(FKTN):c.166-6A>G rs41277795 0.00808
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=) rs55806007 0.00808
NM_000541.5(SAG):c.93G>A (p.Gly31=) rs79063407 0.00807
NM_001079802.2(FKTN):c.910+14G>A rs76180538 0.00806
NM_004006.3(DMD):c.1332-18C>T rs193153078 0.00806
NM_005184.4(CALM3):c.390C>T (p.Asp130=) rs35617141 0.00806
NM_015978.3(TNNI3K):c.2057T>C (p.Ile686Thr) rs3737564 0.00806
NM_133379.5(TTN):c.14244T>C (p.Leu4748=) rs139669372 0.00806
NM_177438.3(DICER1):c.1887G>A (p.Thr629=) rs141651702 0.00806
NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu) rs61910685 0.00804
NM_001081.4(CUBN):c.6788T>G (p.Phe2263Cys) rs2271460 0.00803
NM_001291303.3(FAT4):c.8544C>T (p.Ser2848=) rs139132509 0.00802
NM_002661.5(PLCG2):c.1712A>G (p.Asn571Ser) rs75472618 0.00802
NM_001943.5(DSG2):c.3135A>C (p.Thr1045=) rs8095704 0.00801
NM_000141.5(FGFR2):c.109+10T>G rs3135722 0.00799
NM_001267550.2(TTN):c.86301G>A (p.Lys28767=) rs56310931 0.00799
NM_024753.5(TTC21B):c.1965G>A (p.Arg655=) rs16822802 0.00798
NM_000719.7(CACNA1C):c.371+17G>A rs78645318 0.00797
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_001142864.4(PIEZO1):c.7194C>T (p.Thr2398=) rs189107499 0.00796
NM_005477.3(HCN4):c.2979G>A (p.Thr993=) rs75307879 0.00796
NM_000112.4(SLC26A2):c.655A>G (p.Ile219Val) rs35919114 0.00795
NM_004130.4(GYG1):c.159A>G (p.Thr53=) rs148619511 0.00795
NM_001457.4(FLNB):c.3771G>A (p.Pro1257=) rs146851485 0.00794
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331 0.00792
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831 0.00792
NM_003640.5(ELP1):c.1758T>G (p.Pro586=) rs35054425 0.00792
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119 0.00791
NM_015915.5(ATL1):c.693T>C (p.Gly231=) rs139720661 0.00790
NM_001110556.2(FLNA):c.1829-13T>C rs192905521 0.00789
NM_006182.4(DDR2):c.1505-19G>A rs143729297 0.00789
NM_000088.4(COL1A1):c.1803C>T (p.Pro601=) rs148275339 0.00788
NM_001276345.2(TNNT2):c.474G>C (p.Arg158=) rs35914325 0.00788
NM_000257.4(MYH7):c.4520-25C>T rs45503601 0.00787
NM_001035.3(RYR2):c.11835C>T (p.Val3945=) rs78939657 0.00787
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu) rs56219475 0.00787
NM_005529.7(HSPG2):c.8929C>T (p.Arg2977Trp) rs114851469 0.00786
NM_004006.3(DMD):c.*38G>A rs16989352 0.00785
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=) rs78926093 0.00784
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser) rs28763945 0.00784
NM_012092.4(ICOS):c.40C>T (p.Arg14Cys) rs77411896 0.00783
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_000441.2(SLC26A4):c.1488C>T (p.Leu496=) rs77407094 0.00782
NM_023110.3(FGFR1):c.600C>T (p.Asp200=) rs17175898 0.00782
NM_000093.5(COL5A1):c.5151C>T (p.Asp1717=) rs61729558 0.00781
NM_022489.4(INF2):c.1281_1286del (p.Pro428_Leu429del) rs751555478 0.00781
NM_022489.4(INF2):c.2630G>A (p.Arg877Gln) rs142678449 0.00781
NM_194248.3(OTOF):c.1723G>A (p.Val575Met) rs55676840 0.00781
NM_001142864.4(PIEZO1):c.6219C>T (p.Tyr2073=) rs61745850 0.00779
NM_000435.3(NOTCH3):c.197+24C>G rs188132716 0.00778
NM_001110792.2(MECP2):c.413+22C>G rs2075597 0.00778
NM_001148.6(ANK2):c.9996T>C (p.Ser3332=) rs145557320 0.00778
NM_177438.3(DICER1):c.2370G>A (p.Arg790=) rs112712209 0.00777
NM_001142864.4(PIEZO1):c.1527C>A (p.Thr509=) rs76834910 0.00776
NM_000642.3(AGL):c.2802A>C (p.Ala934=) rs34230588 0.00775
NM_000552.5(VWF):c.5173C>T (p.Pro1725Ser) rs78302129 0.00774
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His) rs55886356 0.00774
NM_006005.3(WFS1):c.1308C>T (p.Thr436=) rs71539646 0.00773
NM_203288.2(RP9):c.664del (p.Ter222AspextTer?) rs553265417 0.00773
NM_000459.5(TEK):c.138C>T (p.Ala46=) rs76223779 0.00772
NM_000545.8(HNF1A):c.326+20C>A rs80051981 0.00772
NM_001040108.2(MLH3):c.1870G>C (p.Glu624Gln) rs28756986 0.00772
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054 0.00771
NM_004444.5(EPHB4):c.2658C>T (p.Ile886=) rs149061889 0.00771
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911 0.00770
NM_006218.4(PIK3CA):c.363C>T (p.Ile121=) rs115746478 0.00769
NM_014208.3(DSPP):c.2012G>A (p.Ser671Asn) rs200839637 0.00769
NM_020297.4(ABCC9):c.2200G>A (p.Val734Ile) rs61688134 0.00769
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=) rs11571642 0.00768
NM_002485.5(NBN):c.37+5G>A rs116735828 0.00767
NM_000059.4(BRCA2):c.516+21A>T rs11571622 0.00765
NM_002335.4(LRP5):c.3564G>A (p.Arg1188=) rs117289001 0.00762
NM_002471.4(MYH6):c.4959+13G>A rs28730765 0.00762
NM_005214.5(CTLA4):c.75G>C (p.Leu25=) rs16840275 0.00761
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874 0.00761
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172 0.00760
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662 0.00760
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) rs56177950 0.00760
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320 0.00758
NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=) rs61730035 0.00758
NM_002296.4(LBR):c.90C>T (p.His30=) rs2230416 0.00758
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
NM_000256.3(MYBPC3):c.2498C>T (p.Ala833Val) rs3729952 0.00756
NM_181332.3(NLGN4X):c.1777C>T (p.Leu593Phe) rs3747333 0.00756
NM_000435.3(NOTCH3):c.1490C>T (p.Ser497Leu) rs114207045 0.00755
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=) rs201354526 0.00754
NM_002148.4(HOXD10):c.746-3T>C rs56941395 0.00753
NM_002230.4(JUP):c.1563A>G (p.Ala521=) rs149926974 0.00753
NM_014391.3(ANKRD1):c.-17A>G rs79341122 0.00753
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442 0.00751
NM_000088.4(COL1A1):c.1821C>T (p.Val607=) rs41316667 0.00750
NM_000548.5(TSC2):c.1543C>T (p.Leu515=) rs35896166 0.00749
NM_001142864.4(PIEZO1):c.5195C>T (p.Thr1732Met) rs139051768 0.00749
NM_003954.5(MAP3K14):c.419G>A (p.Ser140Asn) rs11574819 0.00749
NM_001005361.3(DNM2):c.235+6A>G rs113192269 0.00748
NM_018979.4(WNK1):c.684C>T (p.Gly228=) rs72647374 0.00748
NM_000316.3(PTH1R):c.1395+15G>A rs151077141 0.00747
NM_000435.3(NOTCH3):c.1952-23G>A rs147014533 0.00747
NM_053025.4(MYLK):c.383C>T (p.Ala128Val) rs143896146 0.00747
NM_001384140.1(PCDH15):c.4672-1637G>A rs139441645 0.00746
NM_002474.3(MYH11):c.4158C>T (p.Thr1386=) rs112377790 0.00746
NM_001042492.3(NF1):c.7322-17C>T rs17884859 0.00744
NM_000304.4(PMP22):c.396C>T (p.Tyr132=) rs74361095 0.00743
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166 0.00743
NM_000245.4(MET):c.1085T>C (p.Met362Thr) rs77523018 0.00742
NM_005188.4(CBL):c.513T>C (p.Ser171=) rs2227987 0.00741
NM_021939.4(FKBP10):c.1546G>A (p.Glu516Lys) rs76022961 0.00741
NM_017553.3(INO80):c.3906A>G (p.Glu1302=) rs61757083 0.00740
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=) rs79644671 0.00740
NM_000552.5(VWF):c.2510C>A (p.Ala837Asp) rs75645183 0.00739
NM_001457.4(FLNB):c.6956T>C (p.Ile2319Thr) rs116826041 0.00739
NM_020191.4(MRPS22):c.201A>G (p.Lys67=) rs11556243 0.00739
NM_020297.4(ABCC9):c.3409G>A (p.Val1137Ile) rs147895473 0.00739
NM_198253.3(TERT):c.2097C>T (p.Ala699=) rs33963617 0.00739
NM_000292.3(PHKA2):c.2436G>A (p.Gly812=) rs61733281 0.00738
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr) rs12324002 0.00737
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg) rs148398509 0.00737
NM_012186.3(FOXE3):c.618C>G (p.Ala206=) rs189628587 0.00737
NM_001379610.1(SPINK1):c.56-37T>C rs17107318 0.00736
NM_004984.4(KIF5A):c.820-19G>T rs181688415 0.00736
NM_000552.5(VWF):c.5515T>C (p.Leu1839=) rs141134620 0.00734
NM_001853.4(COL9A3):c.546C>T (p.Pro182=) rs150148851 0.00734
NM_000243.3(MEFV):c.1503C>T (p.Arg501=) rs76464258 0.00733
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583 0.00733
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=) rs35015603 0.00732
NM_001291303.3(FAT4):c.11429A>G (p.His3810Arg) rs114637892 0.00732
NM_003640.5(ELP1):c.1230G>A (p.Pro410=) rs41278359 0.00732
NM_022124.6(CDH23):c.3364T>G (p.Leu1122Val) rs77821631 0.00732
NM_002661.5(PLCG2):c.1146T>C (p.Phe382=) rs138637229 0.00731
NM_001034853.2(RPGR):c.1296A>T (p.Glu432Asp) rs28718831 0.00730
NM_001844.5(COL2A1):c.213C>T (p.Asp71=) rs112469769 0.00730
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927 0.00729
NM_002880.4(RAF1):c.1941C>T (p.Val647=) rs3730297 0.00729
NM_004239.4(TRIP11):c.3147G>A (p.Leu1049=) rs17127842 0.00729
NM_001458.5(FLNC):c.3721C>T (p.Arg1241Cys) rs146953558 0.00728
NM_002471.4(MYH6):c.4206C>T (p.Ala1402=) rs111638554 0.00728
NM_001081.4(CUBN):c.6924A>T (p.Ser2308=) rs115303408 0.00727
NM_002691.4(POLD1):c.3218+9C>T rs3219448 0.00727
NM_213599.3(ANO5):c.800C>G (p.Thr267Ser) rs138144479 0.00727
NM_000459.5(TEK):c.2838C>T (p.Ala946=) rs45505400 0.00725
NM_001358921.2(COQ2):c.957C>T (p.Tyr319=) rs141431344 0.00725
NM_001457.4(FLNB):c.2907G>A (p.Arg969=) rs138449267 0.00724
NM_003126.4(SPTA1):c.3037-14T>C rs142102801 0.00723
NM_001844.5(COL2A1):c.708+8C>T rs41317893 0.00720
NM_005477.3(HCN4):c.1591-19C>A rs41279186 0.00720
NM_000260.4(MYO7A):c.133-14C>T rs116228809 0.00719
NM_001395413.1(POR):c.360C>T (p.Ala120=) rs41299490 0.00719
NM_001458.5(FLNC):c.6004+11G>A rs117653869 0.00719
NM_001605.3(AARS1):c.2791G>A (p.Gly931Ser) rs149377346 0.00718
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855 0.00718
NM_001365951.3(KIF1B):c.3864+6A>C rs114266141 0.00716
NM_001244008.2(KIF1A):c.3852T>C (p.His1284=) rs184931664 0.00715
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys) rs72468681 0.00714
NM_006506.5(RASA2):c.2226-5C>T rs112582979 0.00714
NM_018055.5(NODAL):c.588C>G (p.Leu196=) rs2231959 0.00714
NM_000090.4(COL3A1):c.583-8C>T rs10166835 0.00713
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_002485.5(NBN):c.1489A>G (p.Thr497Ala) rs3026268 0.00711
NM_023110.3(FGFR1):c.2262G>A (p.Leu754=) rs56341011 0.00711
NM_001145809.2(MYH14):c.5868C>T (p.Ala1956=) rs190695624 0.00710
NM_000719.7(CACNA1C):c.5097C>T (p.Ala1699=) rs113595214 0.00709
NM_003126.4(SPTA1):c.1533A>G (p.Ala511=) rs34446973 0.00709
NM_001267550.2(TTN):c.50551+20C>T rs67636125 0.00708
NM_006182.4(DDR2):c.2481G>T (p.Leu827=) rs35077871 0.00708
NM_001365951.3(KIF1B):c.4055+6A>G rs76519832 0.00707
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679 0.00707
NM_002691.4(POLD1):c.88C>T (p.Arg30Trp) rs3218772 0.00706
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591 0.00706
NM_005428.4(VAV1):c.1524G>A (p.Pro508=) rs117509372 0.00706
NM_000038.6(APC):c.4326T>A (p.Pro1442=) rs67622085 0.00705
NM_000243.3(MEFV):c.1792+52C>G rs11466046 0.00705
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=) rs35593170 0.00704
NM_001244008.2(KIF1A):c.4318+17C>T rs138964333 0.00704
NM_006343.3(MERTK):c.2028C>T (p.Tyr676=) rs56225811 0.00704
NM_014324.6(AMACR):c.*753T>G rs140021599 0.00704
NM_000142.5(FGFR3):c.654G>C (p.Val218=) rs147769045 0.00703
NM_001267550.2(TTN):c.57462G>A (p.Gln19154=) rs72646832 0.00703
NM_004415.4(DSP):c.2673T>C (p.Tyr891=) rs146407262 0.00703
NM_006343.3(MERTK):c.1618G>A (p.Glu540Lys) rs113485015 0.00703
NM_001267550.2(TTN):c.24579A>G (p.Thr8193=) rs72648979 0.00702
NM_001267550.2(TTN):c.57464G>A (p.Arg19155Lys) rs72646833 0.00702
NM_006343.3(MERTK):c.1984C>G (p.Gln662Glu) rs56209758 0.00702
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu) rs17452588 0.00701
NM_001267550.2(TTN):c.24160A>T (p.Ile8054Leu) rs72648976 0.00701
NM_001267550.2(TTN):c.24345C>T (p.Ser8115=) rs72648977 0.00701
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn) rs34884895 0.00701
NM_001035.3(RYR2):c.13260+14A>G rs141528541 0.00700
NM_002454.3(MTRR):c.1653G>A (p.Pro551=) rs139206262 0.00700
NM_001130823.3(DNMT1):c.1095C>T (p.His365=) rs116502459 0.00699
NM_005529.7(HSPG2):c.3292G>A (p.Ala1098Thr) rs2501264 0.00699
NM_006363.6(SEC23B):c.1503C>T (p.Ile501=) rs147036760 0.00699
NM_213599.3(ANO5):c.1545A>G (p.Ser515=) rs35843353 0.00699
NM_000071.3(CBS):c.829-12C>T rs75616587 0.00698
NM_001035.3(RYR2):c.7342+16A>G rs76678214 0.00698
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=) rs113510895 0.00698
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn) rs17354992 0.00698
NM_001267550.2(TTN):c.39183T>A (p.Pro13061=) rs12474306 0.00697
NM_001267550.2(TTN):c.56529G>A (p.Thr18843=) rs72646827 0.00697
NM_001267550.2(TTN):c.32722+9G>A rs148231130 0.00695
NM_001927.4(DES):c.735+20C>T rs151226355 0.00694
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu) rs16962093 0.00694
NM_000059.4(BRCA2):c.517-19C>T rs11571623 0.00693
NM_001355436.2(SPTB):c.6220-16C>A rs78459089 0.00690
NM_004086.3(COCH):c.1269C>T (p.Asp423=) rs35353967 0.00689
NM_004239.4(TRIP11):c.4164C>T (p.His1388=) rs140130380 0.00687
NM_004239.4(TRIP11):c.4507A>G (p.Met1503Val) rs34839498 0.00686
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=) rs41266697 0.00686
NM_001267550.2(TTN):c.45083-10A>G rs72677222 0.00683
NM_003126.4(SPTA1):c.441C>T (p.Thr147=) rs73020287 0.00683
NM_021625.5(TRPV4):c.1341C>T (p.His447=) rs57316123 0.00683
NM_001148.6(ANK2):c.2377-8C>T rs139893914 0.00682
NM_004239.4(TRIP11):c.2217T>C (p.Tyr739=) rs35009380 0.00682
NM_001081.4(CUBN):c.5098G>A (p.Asp1700Asn) rs116114483 0.00681
NM_001395413.1(POR):c.78G>A (p.Thr26=) rs41295381 0.00681
NM_004387.4(NKX2-5):c.861C>T (p.Ala287=) rs77612903 0.00681
NM_000088.4(COL1A1):c.904-9G>T rs141726413 0.00680
NM_000337.6(SGCD):c.507G>A (p.Ala169=) rs10071079 0.00680
NM_001024630.4(RUNX2):c.1087+17T>C rs148013252 0.00680
NM_001243133.2(NLRP3):c.423C>T (p.Tyr141=) rs56710146 0.00680
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422 0.00680
NM_000089.4(COL1A2):c.3018C>T (p.Gly1006=) rs62001059 0.00679
NM_005529.7(HSPG2):c.9719C>T (p.Ala3240Val) rs62642505 0.00677
NM_006363.6(SEC23B):c.816T>C (p.Ile272=) rs115177758 0.00677
NM_000219.6(KCNE1):c.84G>A (p.Ser28=) rs17173510 0.00676
NM_153717.3(EVC):c.780G>A (p.Lys260=) rs41269555 0.00676
NM_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289 0.00675
NM_000098.3(CPT2):c.302C>T (p.Ala101Val) rs75939866 0.00675
NM_000342.4(SLC4A1):c.2311+19G>A rs2285643 0.00675
NM_001035.3(RYR2):c.2046A>G (p.Thr682=) rs116098815 0.00675
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) rs72648937 0.00675
NM_001148.6(ANK2):c.2178+18C>T rs45447896 0.00674
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265 0.00674
NM_001042492.3(NF1):c.3496+19T>C rs9890283 0.00673
NM_021625.5(TRPV4):c.2433G>C (p.Ser811=) rs34071623 0.00673
NM_005228.5(EGFR):c.2963A>C (p.His988Pro) rs17290699 0.00672
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044 0.00672
NM_147127.5(EVC2):c.1198A>G (p.Thr400Ala) rs138972736 0.00672
NM_002691.4(POLD1):c.2546G>A (p.Arg849His) rs3218775 0.00670
NM_005529.7(HSPG2):c.7296A>T (p.Ala2432=) rs2229485 0.00669
NM_001243133.2(NLRP3):c.3005+25C>T rs61841189 0.00667
NM_001267550.2(TTN):c.42156C>T (p.Ile14052=) rs76815324 0.00667
NM_001267550.2(TTN):c.95259C>T (p.Leu31753=) rs72648258 0.00667
NM_006415.4(SPTLC1):c.*124A>G rs189582528 0.00666
NM_014208.3(DSPP):c.3204T>C (p.Asp1068=) rs370264407 0.00665
NM_000208.4(INSR):c.2683-5C>T rs41306363 0.00664
NM_005529.7(HSPG2):c.9732C>T (p.His3244=) rs74782938 0.00664
NM_017668.3(NDE1):c.948-3356G>A rs142108062 0.00664
NM_000162.5(GCK):c.31G>A (p.Ala11Thr) rs116093166 0.00663
NM_005428.4(VAV1):c.1980T>C (p.His660=) rs112350637 0.00662
NM_005529.7(HSPG2):c.3967C>G (p.Leu1323Val) rs10917058 0.00662
NM_000142.5(FGFR3):c.1076-13C>T rs114754024 0.00661
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro) rs4988111 0.00660
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=) rs1800135 0.00660
NM_024334.3(TMEM43):c.698A>G (p.Tyr233Cys) rs35924492 0.00660
NM_001035.3(RYR2):c.8448C>T (p.Asp2816=) rs144876996 0.00659
NM_014000.3(VCL):c.2801C>T (p.Ala934Val) rs16931179 0.00658
NM_022114.4(PRDM16):c.38-15C>T rs9662053 0.00658
NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys) rs2229474 0.00657
NM_000552.5(VWF):c.3686T>G (p.Val1229Gly) rs61749367 0.00656
NM_001355436.2(SPTB):c.1707G>A (p.Lys569=) rs139116435 0.00656
NM_001376.5(DYNC1H1):c.13516-16C>T rs28669726 0.00656
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048 0.00655
NM_001042492.3(NF1):c.6393C>T (p.His2131=) rs17881788 0.00655
NM_005633.4(SOS1):c.1074+5G>C rs145155424 0.00655
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=) rs34562585 0.00654
NM_001844.5(COL2A1):c.2160C>A (p.Gly720=) rs145704340 0.00654
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954 0.00654
NM_015046.7(SETX):c.1968A>G (p.Val656=) rs113997459 0.00654
NM_005251.3(FOXC2):c.108C>T (p.Ser36=) rs138318843 0.00653
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_001943.5(DSG2):c.2647T>C (p.Ser883Pro) rs34417028 0.00652
NM_001195263.2(PDZD7):c.1008C>T (p.Pro336=) rs144469613 0.00650
NM_147127.5(EVC2):c.2707-5T>C rs186058156 0.00650
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile) rs1800060 0.00649
NM_001943.5(DSG2):c.2708C>T (p.Thr903Ile) rs34065672 0.00649
NM_000090.4(COL3A1):c.1816-19T>C rs114299724 0.00647
NM_001605.3(AARS1):c.1404C>T (p.Tyr468=) rs117598688 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_032119.4(ADGRV1):c.10769+9A>G rs116184119 0.00645
NM_004082.5(DCTN1):c.3529+5G>A rs72466494 0.00644
NM_181882.3(PRX):c.2469G>A (p.Ala823=) rs61733450 0.00644
NM_018706.7(DHTKD1):c.987+10G>C rs142511121 0.00643
NM_000245.4(MET):c.948A>G (p.Ile316Met) rs35225896 0.00641
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys) rs28626194 0.00641
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser) rs72677242 0.00641
NM_000337.6(SGCD):c.294+8T>C rs11748588 0.00640
NM_003482.4(KMT2D):c.8046+11A>G rs145186737 0.00640
NM_000022.4(ADA):c.834T>C (p.His278=) rs116962828 0.00639
NM_001243133.2(NLRP3):c.278-45T>C rs41303141 0.00639
NM_001458.5(FLNC):c.352+10G>A rs79489893 0.00639
NM_001243133.2(NLRP3):c.1231C>T (p.Leu411=) rs148478875 0.00638
NM_053025.4(MYLK):c.2101G>A (p.Ala701Thr) rs142835596 0.00637
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg) rs2229020 0.00636
NM_000455.5(STK11):c.369G>A (p.Gln123=) rs140112347 0.00636
NM_001267550.2(TTN):c.19383T>C (p.Asn6461=) rs76771282 0.00636
NM_004614.5(TK2):c.94C>T (p.Arg32Trp) rs200121712 0.00636
NM_017668.3(NDE1):c.948-6839G>A rs183176702 0.00636
NM_001999.4(FBN2):c.8154C>T (p.Leu2718=) rs34119447 0.00635
NM_133379.5(TTN):c.16508G>C (p.Ser5503Thr) rs16866489 0.00635
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly) rs146983095 0.00634
NM_000552.5(VWF):c.5053+37G>A rs35122657 0.00633
NM_002626.6(PFKL):c.-5C>T rs550375523 0.00633
NM_015046.7(SETX):c.7905C>T (p.Ala2635=) rs112201716 0.00633
NM_002764.4(PRPS1):c.456A>G (p.Leu152=) rs61735617 0.00632
NM_003200.5(TCF3):c.1539C>G (p.His513Gln) rs115383004 0.00632
NM_020708.5(SLC12A5):c.482-5T>C rs147042920 0.00631
NM_001081.4(CUBN):c.5080+17T>C rs79034718 0.00630
NM_005529.7(HSPG2):c.2357A>G (p.Asn786Ser) rs143736974 0.00628
NM_001031710.3(KLHL7):c.1440A>G (p.Lys480=) rs118185564 0.00627
NM_004006.3(DMD):c.7476T>C (p.Val2492=) rs142153424 0.00626
NM_005529.7(HSPG2):c.3056C>T (p.Pro1019Leu) rs62642528 0.00626
NM_133379.5(TTN):c.13068A>G (p.Gln4356=) rs16866490 0.00626
NM_000363.5(TNNI3):c.-47C>T rs202159627 0.00625
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val) rs72648244 0.00625
NM_000091.5(COL4A3):c.71C>G (p.Ala24Gly) rs184704920 0.00624
NM_001110556.2(FLNA):c.5814C>T (p.Tyr1938=) rs140084263 0.00624
NM_001204.7(BMPR2):c.-669G>A rs115604088 0.00624
NM_000132.4(F8):c.266-19G>A rs28370201 0.00623
NM_001457.4(FLNB):c.249G>A (p.Ala83=) rs112750785 0.00622
NM_000304.4(PMP22):c.179-17G>A rs77406217 0.00621
NM_000447.3(PSEN2):c.756G>C (p.Ala252=) rs147702142 0.00621
NM_003126.4(SPTA1):c.1680G>C (p.Leu560=) rs73020251 0.00621
NM_004006.3(DMD):c.3787-18T>C rs72468656 0.00621
NM_014874.4(MFN2):c.2113G>A (p.Val705Ile) rs142271930 0.00621
NM_000071.3(CBS):c.1145+7C>T rs201158177 0.00620
NM_002230.4(JUP):c.1224C>T (p.Leu408=) rs2230408 0.00620
NM_004100.5(EYA4):c.111T>C (p.Ser37=) rs35863035 0.00620
NM_181882.3(PRX):c.4044G>C (p.Gly1348=) rs76088917 0.00620
NM_182925.5(FLT4):c.3002-18C>A rs113793749 0.00620
NM_001159773.2(CANT1):c.459C>T (p.Val153=) rs35290882 0.00619
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) rs28763961 0.00618
NM_001081.4(CUBN):c.963C>T (p.Pro321=) rs150309054 0.00617
NM_024753.5(TTC21B):c.1870A>G (p.Ile624Val) rs77106136 0.00617
NM_000207.3(INS):c.188-16C>T rs5507 0.00616
NM_001999.4(FBN2):c.629-9A>G rs56025995 0.00616
NM_000071.3(CBS):c.573G>A (p.Thr191=) rs73906420 0.00615
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=) rs56181243 0.00615
NM_001384140.1(PCDH15):c.1702G>A (p.Ala568Thr) rs61730754 0.00615
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441 0.00614
NM_000089.4(COL1A2):c.1036-12A>G rs41316929 0.00613
NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe) rs34618570 0.00613
NM_139276.3(STAT3):c.1381G>C (p.Val461Leu) rs149214040 0.00612
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_003051.4(SLC16A1):c.1002G>A (p.Ala334=) rs114731222 0.00609
NM_005422.4(TECTA):c.5384-19G>A rs7111480 0.00609
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910 0.00608
NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773 0.00608
NM_000162.5(GCK):c.46-5594A>G rs75119141 0.00607
NM_005428.4(VAV1):c.835G>A (p.Val279Ile) rs117819421 0.00605
NM_000158.4(GBE1):c.176T>C (p.Ile59Thr) rs28763904 0.00604
NM_001035.3(RYR2):c.14299-12A>G rs41267519 0.00603
NM_015046.7(SETX):c.59G>A (p.Arg20His) rs79740039 0.00602
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470 0.00601
NM_001267550.2(TTN):c.45350-13T>C rs113084617 0.00600
NM_002180.3(IGHMBP2):c.256+9G>A rs118015540 0.00600
NM_000051.4(ATM):c.4042T>C (p.Leu1348=) rs56355831 0.00599
NM_001303256.3(MORC2):c.234T>G (p.Ala78=) rs140792905 0.00599
NM_001999.4(FBN2):c.8347G>C (p.Glu2783Gln) rs76756898 0.00599
NM_024334.3(TMEM43):c.1096G>A (p.Ala366Thr) rs36083134 0.00599
NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195 0.00598
NM_175914.5(HNF4A):c.393T>C (p.Asn131=) rs113308087 0.00598
NM_000059.4(BRCA2):c.9257-16T>C rs11571818 0.00597
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_004100.5(EYA4):c.103C>T (p.Leu35=) rs35562371 0.00597
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=) rs74318065 0.00596
NM_001243133.2(NLRP3):c.1600C>T (p.Leu534=) rs116054301 0.00596
NM_002764.4(PRPS1):c.477C>T (p.Ile159=) rs61752962 0.00596
NM_194248.3(OTOF):c.1185C>T (p.Thr395=) rs61739877 0.00596
NM_002156.5(HSPD1):c.144C>T (p.Ala48=) rs11551346 0.00595
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser) rs16998350 0.00594
NM_004415.4(DSP):c.1702-18C>T rs148417566 0.00594
NM_000518.5(HBB):c.93-23T>C rs111851677 0.00593
NM_001267550.2(TTN):c.17312C>G (p.Thr5771Ser) rs16866477 0.00593
NM_000435.3(NOTCH3):c.5400G>T (p.Gly1800=) rs34480308 0.00591
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile) rs148355156 0.00591
NM_014874.4(MFN2):c.744C>T (p.Leu248=) rs61733205 0.00591
NM_133379.5(TTN):c.11006A>G (p.Asp3669Gly) rs72647896 0.00591
NM_000069.3(CACNA1S):c.399-14C>T rs116534514 0.00590
NM_001267550.2(TTN):c.88858C>T (p.Leu29620=) rs115070904 0.00590
NM_024422.6(DSC2):c.1719C>T (p.Asn573=) rs140167653 0.00590
NM_000492.4(CFTR):c.164+28A>G rs34010645 0.00589
NM_002109.6(HARS1):c.14C>A (p.Ala5Glu) rs78741041 0.00588
NM_000112.4(SLC26A2):c.*330G>T rs191884433 0.00587
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val) rs34870424 0.00587
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784 0.00587
NM_024577.4(SH3TC2):c.645C>T (p.Ser215=) rs80227512 0.00587
NM_003073.5(SMARCB1):c.500+65G>A rs34545858 0.00586
NM_000719.7(CACNA1C):c.3114G>C (p.Leu1038=) rs114139824 0.00585
NM_001267550.2(TTN):c.17989G>A (p.Ala5997Thr) rs72648946 0.00585
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu) rs147371999 0.00585
NM_000182.5(HADHA):c.573+8dup rs112196218 0.00584
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338 0.00584
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809 0.00583
NM_021625.5(TRPV4):c.810G>A (p.Gly270=) rs147558344 0.00582
NM_004006.3(DMD):c.3432+2036A>C rs182575709 0.00580
NM_014920.5(CILK1):c.1448C>G (p.Ser483Cys) rs115840580 0.00580
NM_022489.4(INF2):c.*10C>T rs142710295 0.00580
NM_032119.4(ADGRV1):c.2553+11T>A rs73181640 0.00580
NM_000088.4(COL1A1):c.4113G>A (p.Lys1371=) rs41316723 0.00578
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=) rs72554028 0.00578
NM_001103.4(ACTN2):c.1371C>T (p.Arg457=) rs114008185 0.00577
NM_177438.3(DICER1):c.5095+13C>T rs116247322 0.00577
NM_000254.3(MTR):c.858C>T (p.Pro286=) rs146019467 0.00576
NM_001032283.3(TMPO):c.565+2487C>T rs17028450 0.00576
NM_000335.5(SCN5A):c.1587T>C (p.Ile529=) rs45624133 0.00575
NM_024753.5(TTC21B):c.2322+3A>G rs79037278 0.00575
NM_053025.4(MYLK):c.5079G>A (p.Lys1693=) rs141467675 0.00575
NM_001065.4(TNFRSF1A):c.224C>T (p.Pro75Leu) rs4149637 0.00574
NM_002880.4(RAF1):c.923C>T (p.Pro308Leu) rs5746220 0.00571
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118 0.00570
NM_001267550.2(TTN):c.11969C>T (p.Pro3990Leu) rs33971253 0.00570
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=) rs2279582 0.00570
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr) rs113869406 0.00570
NM_005529.7(HSPG2):c.11671+15C>T rs7515291 0.00569
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_000051.4(ATM):c.186-7C>T rs55674039 0.00568
NM_001395413.1(POR):c.1889+3G>A rs41301439 0.00568
NM_001605.3(AARS1):c.64G>A (p.Glu22Lys) rs151091410 0.00568
NM_023110.3(FGFR1):c.345C>T (p.Ser115=) rs2915665 0.00567
NM_181523.3(PIK3R1):c.195A>G (p.Glu65=) rs73768883 0.00567
NM_000089.4(COL1A2):c.948C>T (p.Gly316=) rs34511999 0.00566
NM_000384.3(APOB):c.10131G>A (p.Leu3377=) rs1799812 0.00564
NM_001142864.4(PIEZO1):c.2139C>T (p.His713=) rs36067616 0.00564
NM_000088.4(COL1A1):c.3897C>T (p.Cys1299=) rs34940368 0.00563
NM_000132.4(F8):c.1508G>A (p.Arg503His) rs35383156 0.00563
NM_005422.4(TECTA):c.790+12C>T rs138644808 0.00563
NM_014402.5(UQCRQ):c.108C>G (p.Pro36=) rs36093416 0.00563
NM_001142864.4(PIEZO1):c.6891C>T (p.Ala2297=) rs34325377 0.00562
NM_133379.5(TTN):c.13936A>G (p.Lys4646Glu) rs140909116 0.00562
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00561
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00561
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772 0.00560
NM_001199397.3(NEK1):c.3624T>C (p.Asp1208=) rs55740606 0.00560
NM_001267550.2(TTN):c.24471C>T (p.Gly8157=) rs113391261 0.00559
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=) rs56345408 0.00559
NM_002335.4(LRP5):c.459G>A (p.Pro153=) rs78844574 0.00559
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met) rs73973147 0.00558
NM_004239.4(TRIP11):c.3858G>A (p.Gln1286=) rs35798420 0.00558
NM_053025.4(MYLK):c.3987T>G (p.Asp1329Glu) rs9844788 0.00558
NM_000138.5(FBN1):c.2855-9C>T rs140590 0.00556
NM_000243.3(MEFV):c.1587+33C>G rs146820856 0.00556
NM_001355436.2(SPTB):c.5554-3C>T rs190765118 0.00555
NM_001457.4(FLNB):c.720C>T (p.Ala240=) rs111433950 0.00554
NM_002473.6(MYH9):c.136C>T (p.Leu46Phe) rs147122501 0.00554
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly) rs72646885 0.00553
NM_002230.4(JUP):c.1774-13C>T rs116772523 0.00553
NM_001130823.3(DNMT1):c.117+19T>C rs77954383 0.00552
NM_001130823.3(DNMT1):c.1500C>T (p.Ala500=) rs75443147 0.00552
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr) rs56128843 0.00552
NM_001130823.3(DNMT1):c.4294-17C>A rs79585069 0.00551
NM_001130823.3(DNMT1):c.4294-19G>C rs2290683 0.00551
NM_053025.4(MYLK):c.5368+13_5368+21del rs146990616 0.00551
NM_181882.3(PRX):c.1281C>T (p.Ile427=) rs76960467 0.00551
NM_000448.3(RAG1):c.251A>G (p.His84Arg) rs150199231 0.00550
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292 0.00550
NM_006231.4(POLE):c.6494G>A (p.Arg2165His) rs5745068 0.00550
NM_006767.4(LZTR1):c.1209C>T (p.Phe403=) rs145833752 0.00550
NM_001142864.4(PIEZO1):c.2466C>T (p.Thr822=) rs138064042 0.00549
NM_015340.4(LARS2):c.22T>C (p.Leu8=) rs77377258 0.00549
NM_001130823.3(DNMT1):c.2382-4C>T rs74505694 0.00548
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=) rs41311573 0.00548
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=) rs139109090 0.00548
NM_003072.5(SMARCA4):c.222+14T>C rs112825147 0.00548
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys) rs2307450 0.00547
NM_004444.5(EPHB4):c.2670G>T (p.Glu890Asp) rs35638378 0.00547
NM_005188.4(CBL):c.1485G>A (p.Pro495=) rs2229072 0.00547
NM_021625.5(TRPV4):c.1153-10C>T rs149541389 0.00547
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr) rs56404770 0.00546
NM_001386125.1(OBSCN):c.16878C>T (p.Phe5626=) rs3795802 0.00546
NM_003072.5(SMARCA4):c.1419+7T>C rs112977340 0.00546
NM_182961.4(SYNE1):c.12000G>A (p.Ala4000=) rs148493518 0.00546
NM_000138.5(FBN1):c.1029G>A (p.Gly343=) rs75655780 0.00545
NM_000158.4(GBE1):c.143+11A>C rs145918282 0.00545
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_001267550.2(TTN):c.29178C>A (p.Ile9726=) rs72650003 0.00545
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031 0.00544
NM_000093.5(COL5A1):c.4231-12G>A rs188473199 0.00543
NM_022489.4(INF2):c.879G>A (p.Ser293=) rs184709736 0.00543
NM_021625.5(TRPV4):c.1744C>T (p.Leu582=) rs35078611 0.00542
NM_032119.4(ADGRV1):c.4260A>G (p.Glu1420=) rs61740119 0.00542
NM_001048174.2(MUTYH):c.421-4A>G rs201678305 0.00541
NM_001382280.1(LRRC53):c.-26-5893T>G rs142942027 0.00540
NM_020708.5(SLC12A5):c.1189A>T (p.Thr397Ser) rs34058554 0.00540
NM_000059.4(BRCA2):c.-11C>T rs76874770 0.00539
NM_001037.5(SCN1B):c.300C>T (p.Asp100=) rs16969927 0.00539
NM_177438.3(DICER1):c.5241G>A (p.Ser1747=) rs114861074 0.00539
NM_001035.3(RYR2):c.14809-15C>G rs790897 0.00538
NM_001148.6(ANK2):c.2278-11G>A rs146312675 0.00538
NM_001377229.1(DISP1):c.1950A>G (p.Thr650=) rs73130656 0.00538
NM_005359.6(SMAD4):c.*11C>T rs11663402 0.00538
NM_016203.4(PRKAG2):c.207G>A (p.Pro69=) rs144384573 0.00538
NM_001355436.2(SPTB):c.3764+9G>A rs150423485 0.00537
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr) rs140916001 0.00537
NM_022114.4(PRDM16):c.3369C>T (p.Asp1123=) rs370420046 0.00537
NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys) rs181067717 0.00536
NM_003073.5(SMARCB1):c.438A>G (p.Pro146=) rs35105793 0.00536
NM_001142864.4(PIEZO1):c.7041C>T (p.Asp2347=) rs34352064 0.00535
NM_001199397.3(NEK1):c.2731C>G (p.Gln911Glu) rs6828134 0.00535
NM_001267550.2(TTN):c.42024+6T>C rs140002940 0.00535
NM_002474.3(MYH11):c.1419G>A (p.Gln473=) rs61734198 0.00535
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636 0.00535
NM_001999.4(FBN2):c.1285A>G (p.Ser429Gly) rs115242287 0.00534
NM_000142.5(FGFR3):c.1645+15G>A rs192433202 0.00533
NM_001267550.2(TTN):c.39709+6C>T rs72650067 0.00533
NM_022489.4(INF2):c.3108T>C (p.Leu1036=) rs186075307 0.00532
NM_001081.4(CUBN):c.9340G>A (p.Gly3114Ser) rs117035284 0.00531
NM_015915.5(ATL1):c.1230G>A (p.Gly410=) rs148548325 0.00531
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=) rs45447891 0.00530
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg) rs138789658 0.00530
NM_000342.4(SLC4A1):c.1953C>T (p.His651=) rs5021 0.00529
NM_001608.4(ACADL):c.932G>T (p.Arg311Met) rs377085604 0.00529
NM_002880.4(RAF1):c.208-17T>C rs3730268 0.00529
NM_018006.5(TRMU):c.652-16C>T rs73177076 0.00529
NM_015978.3(TNNI3K):c.334-8C>T rs45443204 0.00528
NM_000077.5(CDKN2A):c.379G>T (p.Ala127Ser) rs6413464 0.00527
NM_000719.7(CACNA1C):c.3387G>A (p.Thr1129=) rs188224114 0.00525
NM_001365951.3(KIF1B):c.2115+6956A>G rs148481786 0.00525
NM_000218.3(KCNQ1):c.720C>T (p.His240=) rs28730754 0.00524
NM_000138.5(FBN1):c.6393C>T (p.Cys2131=) rs61730051 0.00522
NM_000384.3(APOB):c.904+11C>G rs148944625 0.00522
NM_000942.5(PPIB):c.344-61C>T rs2241995 0.00522
NM_001457.4(FLNB):c.5646G>A (p.Pro1882=) rs114882667 0.00522
NM_020631.6(PLEKHG5):c.-88+6328C>T rs147378306 0.00522
NM_024577.4(SH3TC2):c.2087A>G (p.His696Arg) rs17109261 0.00521
NM_147127.5(EVC2):c.814C>T (p.Arg272Trp) rs114142742 0.00521
NM_002180.3(IGHMBP2):c.741C>T (p.Ala247=) rs76707931 0.00520
NM_006767.4(LZTR1):c.201-8C>T rs183476594 0.00520
NM_032578.4(MYPN):c.3493+11C>T rs113674647 0.00520
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His) rs72677237 0.00519
NM_174936.4(PCSK9):c.1869C>T (p.Thr623=) rs28362285 0.00518
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00517
NM_002180.3(IGHMBP2):c.1104C>T (p.Tyr368=) rs148157556 0.00517
NM_002471.4(MYH6):c.4899C>T (p.His1633=) rs61742474 0.00517
NM_001142864.4(PIEZO1):c.4770G>A (p.Val1590=) rs183221795 0.00516
NM_001267550.2(TTN):c.79319G>A (p.Arg26440His) rs56044609 0.00516
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_000093.5(COL5A1):c.4393-17C>T rs141152269 0.00515
NM_000642.3(AGL):c.3758G>A (p.Arg1253His) rs12043139 0.00515
NM_007294.4(BRCA1):c.5406+8T>C rs55946644 0.00514
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890 0.00513
NM_001081.4(CUBN):c.9986C>T (p.Ser3329Leu) rs74431427 0.00513
NM_002109.6(HARS1):c.1127A>G (p.Lys376Arg) rs139447495 0.00513
NM_002661.5(PLCG2):c.2094C>T (p.Asp698=) rs143195637 0.00513
NM_006005.3(WFS1):c.2247G>A (p.Thr749=) rs75096624 0.00513
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00513
NM_058216.3(RAD51C):c.572-17G>T rs193023469 0.00513
NM_147127.5(EVC2):c.2863C>T (p.Arg955Trp) rs116502852 0.00513
NM_000093.5(COL5A1):c.5137-11T>C rs183495554 0.00512
NM_147127.5(EVC2):c.1845C>T (p.Thr615=) rs112747818 0.00512
NM_017668.3(NDE1):c.948-7059C>G rs148691719 0.00511
NM_022124.6(CDH23):c.5297T>C (p.Phe1766Ser) rs114745089 0.00511
NM_031475.3(ESPN):c.2070G>A (p.Ser690=) rs142850918 0.00511
NM_000038.6(APC):c.1958+8T>C rs62626346 0.00510
NM_000335.5(SCN5A):c.3508+10C>T rs41258454 0.00510
NM_002661.5(PLCG2):c.2542C>T (p.Leu848Phe) rs114618894 0.00510
NM_005633.4(SOS1):c.2167+6T>G rs186640807 0.00510
NM_000093.5(COL5A1):c.-37G>A rs374979485 0.00508
NM_003072.5(SMARCA4):c.2388C>T (p.Leu796=) rs28997580 0.00508
NM_002230.4(JUP):c.777C>T (p.Gly259=) rs34890640 0.00507
NM_020297.4(ABCC9):c.2644-19G>A rs73254534 0.00507
NM_002180.3(IGHMBP2):c.151C>G (p.Gln51Glu) rs117061430 0.00506
NM_000038.6(APC):c.532-32T>C rs112108777 0.00505
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831 0.00505
NM_000193.4(SHH):c.300+17G>A rs116412905 0.00504
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703 0.00504
NM_032578.4(MYPN):c.1134C>T (p.Ile378=) rs145701607 0.00504
NM_001330078.2(NRXN1):c.3933A>G (p.Ala1311=) rs79970751 0.00503
NM_004006.3(DMD):c.9225-645T>C rs73617065 0.00503
NM_001376.5(DYNC1H1):c.12684+14A>G rs200392758 0.00502
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu) rs5959130 0.00500
NM_002454.3(MTRR):c.288C>T (p.Leu96=) rs35587995 0.00500
NM_174936.4(PCSK9):c.720C>T (p.Gly240=) rs41297883 0.00500
NM_000053.4(ATP7B):c.3403G>A (p.Ala1135Thr) rs187200982 0.00499
NM_003476.5(CSRP3):c.213C>T (p.Ile71=) rs45476991 0.00499
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly) rs2274083 0.00499
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=) rs56056823 0.00499
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile) rs141548164 0.00498
NM_000038.6(APC):c.5250C>G (p.Val1750=) rs2229997 0.00497
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327 0.00496
NM_000251.3(MSH2):c.984C>T (p.Ala328=) rs4987189 0.00495
NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu) rs141696238 0.00495
NM_004415.4(DSP):c.8481C>T (p.Ser2827=) rs151029175 0.00494
NM_006158.5(NEFL):c.667C>T (p.Leu223=) rs60156239 0.00494
NM_001035.3(RYR2):c.1292+20C>T rs182050281 0.00493
NM_016203.4(PRKAG2):c.639C>T (p.Thr213=) rs140001300 0.00493
NM_000492.4(CFTR):c.1581A>G (p.Glu527=) rs1800094 0.00491
NM_001127511.3(APC):c.-181C>T rs115658307 0.00491
NM_002661.5(PLCG2):c.1565C>G (p.Pro522Arg) rs72824905 0.00491
NM_022124.6(CDH23):c.6852G>C (p.Leu2284=) rs56013867 0.00491
NM_002471.4(MYH6):c.330G>A (p.Ala110=) rs77679218 0.00490
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_000093.5(COL5A1):c.5137-12C>T rs191758714 0.00488
NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=) rs9858585 0.00488
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00488
NM_206933.4(USH2A):c.13440G>A (p.Arg4480=) rs111033378 0.00488
NM_002471.4(MYH6):c.36G>A (p.Ala12=) rs141014719 0.00487
NM_002691.4(POLD1):c.1275C>T (p.Ala425=) rs3219392 0.00486
NM_004006.3(DMD):c.10789C>T (p.Leu3597=) rs1800281 0.00486
NM_004614.5(TK2):c.231+10C>T rs187517309 0.00486
NM_181426.2(CCDC39):c.2432G>A (p.Arg811His) rs61733583 0.00485
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267 0.00484
NM_032119.4(ADGRV1):c.3289G>A (p.Gly1097Ser) rs148097083 0.00484
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) rs41308846 0.00484
NM_000254.3(MTR):c.3599-18C>T rs116444161 0.00483
NM_001355436.2(SPTB):c.996C>T (p.Asn332=) rs141060172 0.00483
NM_001374353.1(GLI2):c.720C>T (p.Asp240=) rs142793481 0.00483
NM_001384140.1(PCDH15):c.3983+12T>C rs149867749 0.00483
NM_022489.4(INF2):c.1078G>A (p.Val360Ile) rs114820975 0.00483
NM_031475.3(ESPN):c.706C>G (p.Gln236Glu) rs6678405 0.00483
NM_001267550.2(TTN):c.68079G>A (p.Thr22693=) rs11904444 0.00481
NM_000088.4(COL1A1):c.612C>T (p.Pro204=) rs138078016 0.00480
NM_002474.3(MYH11):c.4522A>G (p.Met1508Val) rs35176378 0.00480
NM_005709.4(USH1C):c.1243G>A (p.Ala415Thr) rs116996553 0.00479
NM_001378183.1(PIEZO2):c.6530G>C (p.Arg2177Thr) rs79992793 0.00478
NM_001844.5(COL2A1):c.4104C>T (p.Pro1368=) rs12721379 0.00478
NM_018006.5(TRMU):c.387A>G (p.Ala129=) rs144586525 0.00478
NM_022489.4(INF2):c.3069C>T (p.Pro1023=) rs75382114 0.00477
NM_133379.5(TTN):c.13455T>C (p.Pro4485=) rs146470872 0.00477
NM_000548.5(TSC2):c.1361+16T>G rs45502491 0.00476
NM_003200.5(TCF3):c.558A>G (p.Pro186=) rs11879412 0.00475
NM_004415.4(DSP):c.2630+18C>T rs145963404 0.00475
NM_015404.4(WHRN):c.764G>A (p.Gly255Asp) rs79509430 0.00475
NM_000451.4(SHOX):c.63C>T (p.Gly21=) rs142306835 0.00472
NM_001267550.2(TTN):c.12233C>T (p.Thr4078Ile) rs80136515 0.00471
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942 0.00471
NM_000257.4(MYH7):c.1579-17C>T rs182949516 0.00470
NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val) rs141441058 0.00470
NM_004999.4(MYO6):c.3246T>C (p.Tyr1082=) rs138437852 0.00470
NM_022489.4(INF2):c.1451G>A (p.Cys484Tyr) rs201323100 0.00470
NM_000257.4(MYH7):c.3864C>G (p.Ser1288=) rs45501694 0.00469
NM_000188.3(HK1):c.2007G>A (p.Glu669=) rs117797901 0.00468
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=) rs72646857 0.00468
NM_005529.7(HSPG2):c.12012C>T (p.Ser4004=) rs16825967 0.00468
NM_000540.3(RYR1):c.9882C>T (p.Ser3294=) rs142610625 0.00467
NM_000264.5(PTCH1):c.2937C>T (p.Asn979=) rs58629309 0.00466
NM_000316.3(PTH1R):c.216G>A (p.Ala72=) rs116789130 0.00466
NM_014000.3(VCL):c.1557C>A (p.Ile519=) rs150120464 0.00466
NM_015340.4(LARS2):c.765G>A (p.Ala255=) rs116272561 0.00466
NM_000088.4(COL1A1):c.3243T>C (p.Val1081=) rs1800217 0.00465
NM_000283.4(PDE6B):c.655T>C (p.Tyr219His) rs62295357 0.00465
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_001457.4(FLNB):c.3078C>T (p.Pro1026=) rs147267045 0.00465
NM_024426.6(WT1):c.1114-9T>C rs5030274 0.00465
NM_007294.4(BRCA1):c.5468-10C>A rs8176316 0.00464
NM_001972.4(ELANE):c.99C>T (p.Gly33=) rs17216628 0.00463
NM_006182.4(DDR2):c.408T>C (p.His136=) rs2271305 0.00463
NM_147127.5(EVC2):c.675A>G (p.Gly225=) rs74930168 0.00463
NM_001395413.1(POR):c.508-4G>A rs41299496 0.00462
NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp) rs113964173 0.00462
NM_004082.5(DCTN1):c.586A>G (p.Ile196Val) rs55862001 0.00462
NM_014845.6(FIG4):c.66+10C>T rs200063827 0.00462
NM_024577.4(SH3TC2):c.2913C>T (p.Ser971=) rs13436308 0.00462
NM_000368.5(TSC1):c.3282G>A (p.Glu1094=) rs116747861 0.00461
NM_001035.3(RYR2):c.1863C>T (p.His621=) rs17686573 0.00461
NM_003000.3(SDHB):c.24C>T (p.Ser8=) rs148738139 0.00461
NM_003239.5(TGFB3):c.39C>T (p.Ala13=) rs11466415 0.00461
NM_005529.7(HSPG2):c.1998+9C>T rs377228309 0.00461
NM_001145809.2(MYH14):c.2792G>A (p.Arg931His) rs200351672 0.00460
NM_004006.3(DMD):c.1997C>T (p.Ser666Leu) rs34563188 0.00460
NM_001267550.2(TTN):c.60055G>A (p.Glu20019Lys) rs201487340 0.00458
NM_203486.3(DLL3):c.1143C>T (p.Ala381=) rs367573123 0.00458
NM_170707.4(LMNA):c.357-3717A>G rs148559653 0.00457
NM_001844.5(COL2A1):c.1221C>T (p.Ser407=) rs150865922 0.00456
NM_006329.4(FBLN5):c.502+15G>C rs190933127 0.00456
NM_015404.4(WHRN):c.1166+18G>A rs149202009 0.00456
NM_181882.3(PRX):c.1216G>A (p.Ala406Thr) rs117336941 0.00456
NC_000016.10:g.177647G>A rs114920844 0.00455
NM_000098.3(CPT2):c.1578T>C (p.Gly526=) rs113493395 0.00455
NM_002471.4(MYH6):c.86G>A (p.Arg29Gln) rs150574114 0.00455
NM_006231.4(POLE):c.1359+18C>T rs5744775 0.00455
NM_024753.5(TTC21B):c.2950+16T>C rs142565795 0.00455
NM_001457.4(FLNB):c.4671+11G>A rs115346578 0.00454
NM_003001.5(SDHC):c.354T>C (p.Phe118=) rs61733156 0.00454
NM_005188.4(CBL):c.2710G>A (p.Val904Ile) rs17122769 0.00454
NM_017636.4(TRPM4):c.755G>A (p.Arg252His) rs146564314 0.00453
NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr) rs111033338 0.00452
NM_001110556.2(FLNA):c.663C>T (p.Pro221=) rs2073470 0.00452
NM_002471.4(MYH6):c.1989C>T (p.Asn663=) rs28730774 0.00451
NM_003850.3(SUCLA2):c.256A>G (p.Ile86Val) rs61756204 0.00451
NM_015340.4(LARS2):c.1552G>A (p.Asp518Asn) rs116826217 0.00451
NM_000182.5(HADHA):c.1981C>T (p.Leu661=) rs142348718 0.00450
NM_001003800.2(BICD2):c.2258+15G>C rs140501870 0.00450
NM_017636.4(TRPM4):c.3405A>C (p.Ala1135=) rs144647383 0.00450
NM_000719.7(CACNA1C):c.5064C>T (p.Ser1688=) rs139872789 0.00449
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=) rs2273437 0.00449
NM_024675.4(PALB2):c.2794G>A (p.Val932Met) rs45624036 0.00449
NM_000090.4(COL3A1):c.2022+5T>C rs41263765 0.00448
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=) rs17512082 0.00448
NM_020297.4(ABCC9):c.285-16G>A rs144825585 0.00448
NM_000218.3(KCNQ1):c.1222C>G (p.Pro408Ala) rs28730756 0.00447
NM_001084.5(PLOD3):c.1528C>T (p.His510Tyr) rs35929039 0.00447
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=) rs17512460 0.00447
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693 0.00446
NM_001267550.2(TTN):c.101697C>T (p.Asp33899=) rs114267234 0.00446
NM_001376.5(DYNC1H1):c.-5A>G rs17511858 0.00446
NM_194248.3(OTOF):c.3471G>T (p.Arg1157=) rs61742191 0.00446
NM_194248.3(OTOF):c.4869C>T (p.Gly1623=) rs61744000 0.00446
NM_000492.4(CFTR):c.3718-2530A>G rs213990 0.00445
NM_001145809.2(MYH14):c.826A>G (p.Ile276Val) rs55645295 0.00445
NM_000218.3(KCNQ1):c.1514+18C>T rs12577654 0.00444
NM_001142864.4(PIEZO1):c.2865G>A (p.Gln955=) rs35597347 0.00444
NM_006231.4(POLE):c.6817A>T (p.Thr2273Ser) rs73481453 0.00444
NM_000090.4(COL3A1):c.1659T>A (p.Pro553=) rs41263751 0.00443
NM_001267550.2(TTN):c.3668C>T (p.Ala1223Val) rs78269740 0.00443
NM_002471.4(MYH6):c.2168+17C>A rs192337153 0.00443
NM_014000.3(VCL):c.1317T>C (p.Ser439=) rs71579355 0.00442
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_004281.4(BAG3):c.231G>A (p.Pro77=) rs143752613 0.00441
NM_053025.4(MYLK):c.652C>T (p.Leu218=) rs113035707 0.00441
NM_053025.4(MYLK):c.479C>G (p.Pro160Arg) rs111256888 0.00440
NM_000059.4(BRCA2):c.7008-62A>G rs76584943 0.00439
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=) rs111844882 0.00439
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727 0.00439
NM_002471.4(MYH6):c.-5C>A rs183611755 0.00438
NM_022114.4(PRDM16):c.1212G>A (p.Thr404=) rs139129844 0.00438
NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser) rs61750615 0.00437
NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg) rs61754130 0.00437
NM_002047.4(GARS1):c.2190G>A (p.Glu730=) rs190132116 0.00437
NM_005529.7(HSPG2):c.6591+16G>A rs200233682 0.00437
NM_000138.5(FBN1):c.1746C>T (p.Cys582=) rs112366266 0.00436
NM_000138.5(FBN1):c.3675G>A (p.Pro1225=) rs148147223 0.00436
NM_001303256.3(MORC2):c.2469G>C (p.Arg823=) rs41279971 0.00436
NM_001457.4(FLNB):c.4872C>T (p.Ile1624=) rs147426569 0.00436
NM_002473.6(MYH9):c.1083C>T (p.Asp361=) rs56001030 0.00436
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=) rs113115949 0.00435
NM_004990.4(MARS1):c.1753+7A>G rs117914586 0.00435
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=) rs61751545 0.00435
NM_000352.6(ABCC8):c.354C>T (p.Val118=) rs137873871 0.00434
NM_001999.4(FBN2):c.6000A>G (p.Leu2000=) rs148293104 0.00434
NM_000435.3(NOTCH3):c.3704A>T (p.His1235Leu) rs55882518 0.00433
NM_004656.4(BAP1):c.2057-4G>T rs149499021 0.00433
NM_000088.4(COL1A1):c.1168G>A (p.Ala390Thr) rs116794104 0.00432
NM_001844.5(COL2A1):c.1221+20G>C rs41317913 0.00432
NM_005529.7(HSPG2):c.5454C>T (p.Ala1818=) rs142538286 0.00432
NM_006506.5(RASA2):c.26C>T (p.Ala9Val) rs200191034 0.00432
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_000088.4(COL1A1):c.4281T>C (p.Ile1427=) rs41316725 0.00431
NM_000090.4(COL3A1):c.3654G>T (p.Pro1218=) rs35759441 0.00430
NM_004168.4(SDHA):c.969C>T (p.Gly323=) rs142849100 0.00430
NM_000179.3(MSH6):c.1345C>T (p.Leu449=) rs3136333 0.00429
NM_001103.4(ACTN2):c.536+10C>T rs141219516 0.00429
NM_003954.5(MAP3K14):c.132C>T (p.Ala44=) rs55740287 0.00428
NM_017654.4(SAMD9):c.257C>T (p.Ser86Phe) rs147157740 0.00428
NM_000256.3(MYBPC3):c.833G>A (p.Gly278Glu) rs147315081 0.00427
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886 0.00427
NM_001999.4(FBN2):c.6512-17G>C rs28763932 0.00427
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00427
NM_001042492.3(NF1):c.2985G>C (p.Leu995=) rs17881467 0.00426
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr) rs56815840 0.00424
NM_000249.4(MLH1):c.545+20A>T rs121909453 0.00424
NM_000463.3(UGT1A1):c.1428C>T (p.Pro476=) rs28900406 0.00423
NM_000719.7(CACNA1C):c.5091+18G>A rs143343491 0.00423
NM_020433.5(JPH2):c.380-9C>G rs111987307 0.00423
NM_000283.4(PDE6B):c.270C>T (p.Asp90=) rs80344633 0.00422
NM_001354768.3(NRL):c.711C>G (p.Leu237=) rs8009051 0.00422
NM_001999.4(FBN2):c.6615C>T (p.Asp2205=) rs28763931 0.00422
NM_001354768.3(NRL):c.441G>A (p.Arg147=) rs201197984 0.00421
NM_005529.7(HSPG2):c.8330G>A (p.Arg2777Gln) rs146305109 0.00421
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569 0.00420
NM_001013693.3(LDLRAD2):c.*2087C>T rs117182812 0.00420
NM_000132.4(F8):c.2994T>G (p.His998Gln) rs149853218 0.00419
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044 0.00419
NM_001199397.3(NEK1):c.2235T>G (p.Asn745Lys) rs34324114 0.00417
NM_006070.6(TFG):c.594T>G (p.Ala198=) rs12562 0.00417
NM_000208.4(INSR):c.870C>T (p.His290=) rs74483718 0.00416
NM_006892.4(DNMT3B):c.1557G>A (p.Gln519=) rs150314851 0.00416
NM_147127.5(EVC2):c.307T>C (p.Leu103=) rs140877783 0.00416
NM_000545.8(HNF1A):c.326+6_326+10dup rs56158114 0.00415
NM_000548.5(TSC2):c.5025G>A (p.Pro1675=) rs35118875 0.00415
NM_001365951.3(KIF1B):c.5250A>G (p.Ala1750=) rs75413741 0.00415
NM_002471.4(MYH6):c.622G>A (p.Asp208Asn) rs142027794 0.00415
NM_000051.4(ATM):c.5005+18G>A rs76290788 0.00414
NM_000141.5(FGFR2):c.159G>A (p.Ala53=) rs1047102 0.00414
NM_001458.5(FLNC):c.1902G>A (p.Glu634=) rs12536635 0.00414
NM_002454.3(MTRR):c.1468A>G (p.Thr490Ala) rs41283145 0.00414
NM_014000.3(VCL):c.1177-15C>T rs115083446 0.00414
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416 0.00413
NM_000520.6(HEXA):c.759G>A (p.Val253=) rs117513345 0.00412
NM_014845.6(FIG4):c.808A>G (p.Thr270Ala) rs61729092 0.00411
NM_020631.6(PLEKHG5):c.1254C>G (p.Pro418=) rs139904931 0.00411
NM_003126.4(SPTA1):c.1600-10A>G rs148156245 0.00410
NM_004239.4(TRIP11):c.1904C>G (p.Ser635Cys) rs59635749 0.00410
NM_004239.4(TRIP11):c.5086G>A (p.Glu1696Lys) rs80200454 0.00410
NM_000182.5(HADHA):c.2146+16T>C rs145930159 0.00408
NM_003072.5(SMARCA4):c.3547-11T>C rs190104006 0.00408
NM_007078.3(LDB3):c.352G>A (p.Val118Met) rs35507268 0.00408
NM_014845.6(FIG4):c.*14C>T rs114136062 0.00408
NM_032415.7(CARD11):c.3019+6C>T rs199705831 0.00408
NM_000335.5(SCN5A):c.717C>T (p.Ile239=) rs41285129 0.00407
NM_004006.3(DMD):c.7542+13A>G rs72466585 0.00407
NM_001267550.2(TTN):c.59165T>C (p.Val19722Ala) rs116592778 0.00406
NM_001457.4(FLNB):c.3090C>T (p.Tyr1030=) rs112968165 0.00406
NM_005529.7(HSPG2):c.10151-8C>T rs184079211 0.00406
NM_053025.4(MYLK):c.4349G>A (p.Arg1450Gln) rs41366751 0.00406
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105 0.00406
NM_000089.4(COL1A2):c.2349+16G>C rs112603291 0.00405
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766 0.00405
NM_001267550.2(TTN):c.13706G>A (p.Ser4569Asn) rs115532048 0.00405
NM_002439.5(MSH3):c.2254-19T>G rs41562717 0.00405
NM_000089.4(COL1A2):c.3336C>T (p.Tyr1112=) rs34691365 0.00404
NM_006218.4(PIK3CA):c.2298T>G (p.Leu766=) rs116164892 0.00404
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe) rs16955851 0.00404
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His) rs76371972 0.00404
NM_053025.4(MYLK):c.1516A>G (p.Arg506Gly) rs77323602 0.00404
NM_001458.5(FLNC):c.1549+15C>A rs181134489 0.00403
NM_133379.5(TTN):c.13863G>A (p.Met4621Ile) rs77419653 0.00403
NM_000429.3(MAT1A):c.1085+15G>A rs147182952 0.00401
NM_000552.5(VWF):c.5170+10C>T rs61750601 0.00400
NM_053025.4(MYLK):c.422+14G>C rs146112057 0.00400
NM_001035.3(RYR2):c.7038A>C (p.Ala2346=) rs116601686 0.00399
NM_004333.6(BRAF):c.1383A>G (p.Gln461=) rs56216404 0.00399
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_004360.5(CDH1):c.532-18C>T rs200673941 0.00398
NM_014845.6(FIG4):c.27C>T (p.Ile9=) rs141040807 0.00398
NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=) rs61751488 0.00398
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=) rs143906555 0.00397
NM_005529.7(HSPG2):c.2596G>A (p.Gly866Ser) rs62642529 0.00397
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) rs55814513 0.00396
NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=) rs140861713 0.00395
NM_000093.5(COL5A1):c.5407G>A (p.Asp1803Asn) rs61729495 0.00394
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=) rs35225609 0.00394
NM_003599.4(SUPT3H):c.101+36483_101+36485del rs139788537 0.00393
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=) rs2066733 0.00392
NM_001605.3(AARS1):c.962+18T>C rs149761815 0.00391
NM_032119.4(ADGRV1):c.8691A>C (p.Glu2897Asp) rs201586455 0.00391
NM_024577.4(SH3TC2):c.3362C>T (p.Ala1121Val) rs115577291 0.00390
NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser) rs111966833 0.00389
NM_006005.3(WFS1):c.917T>C (p.Met306Thr) rs146114074 0.00389
NM_017636.4(TRPM4):c.870C>T (p.Asn290=) rs141997826 0.00389
NM_000051.4(ATM):c.1176C>G (p.Gly392=) rs1800727 0.00388
NM_001355436.2(SPTB):c.301-18G>A rs116588454 0.00388
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129 0.00388
NM_147127.5(EVC2):c.3561A>G (p.Lys1187=) rs76523157 0.00388
NM_003072.5(SMARCA4):c.1119-12C>T rs113870824 0.00387
NM_172201.2(KCNE2):c.22A>G (p.Thr8Ala) rs2234916 0.00387
NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=) rs201531206 0.00386
NM_005458.8(GABBR2):c.2413-14C>T rs76319306 0.00386
NM_004168.4(SDHA):c.456+20G>C rs193283468 0.00385
NM_032578.4(MYPN):c.3078G>A (p.Gly1026=) rs114479328 0.00385
NM_003072.5(SMARCA4):c.2001+8T>G rs112549813 0.00384
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=) rs61737145 0.00384
NM_002474.3(MYH11):c.2520+17A>G rs185697714 0.00383
NM_001142864.4(PIEZO1):c.4955+3G>A rs569520386 0.00382
NM_001142864.4(PIEZO1):c.5802-4G>A rs149342271 0.00381
NM_003072.5(SMARCA4):c.222+18C>T rs180832203 0.00381
NM_005428.4(VAV1):c.1047G>A (p.Glu349=) rs61750001 0.00381
NM_006790.3(MYOT):c.1008G>T (p.Val336=) rs142828368 0.00381
NM_032119.4(ADGRV1):c.3956G>A (p.Arg1319Gln) rs73181648 0.00381
NM_014000.3(VCL):c.1542C>T (p.Val514=) rs7904077 0.00380
NM_000169.3(GLA):c.194+17A>G rs2071226 0.00379
NM_000548.5(TSC2):c.1443+18C>T rs375947241 0.00379
NM_000548.5(TSC2):c.948G>A (p.Pro316=) rs45517141 0.00379
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile) rs111033269 0.00379
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) rs72650011 0.00378
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser) rs111033394 0.00378
NM_000548.5(TSC2):c.4638C>T (p.Ala1546=) rs45517354 0.00377
NM_001130823.3(DNMT1):c.2463C>T (p.Leu821=) rs61750051 0.00377
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys) rs72648272 0.00377
NM_000193.4(SHH):c.897G>C (p.Leu299=) rs9333635 0.00376
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723 0.00376
NM_000548.5(TSC2):c.848+7G>A rs45442896 0.00376
NM_000642.3(AGL):c.2883A>G (p.Arg961=) rs113625417 0.00375
NM_005529.7(HSPG2):c.9945G>A (p.Thr3315=) rs77713482 0.00374
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=) rs148197254 0.00374
NM_000071.3(CBS):c.1039+19C>T rs182908734 0.00373
NM_001110556.2(FLNA):c.882A>G (p.Thr294=) rs184864998 0.00373
NM_002335.4(LRP5):c.4635C>T (p.Thr1545=) rs145406397 0.00373
NM_022114.4(PRDM16):c.387+6C>T rs369010644 0.00373
NM_000138.5(FBN1):c.306C>T (p.Cys102=) rs25388 0.00372
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230 0.00372
NM_000132.4(F8):c.3621C>T (p.His1207=) rs28370212 0.00371
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399 0.00370
NM_005428.4(VAV1):c.1777+19C>T rs200072158 0.00370
NM_000243.3(MEFV):c.42G>A (p.Glu14=) rs113314808 0.00369
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser) rs143037290 0.00369
NM_005529.7(HSPG2):c.4176T>C (p.His1392=) rs62642526 0.00369
NM_007078.3(LDB3):c.1263G>A (p.Gly421=) rs139834701 0.00369
NM_206933.4(USH2A):c.6257C>A (p.Thr2086Asn) rs149202379 0.00369
NM_022124.6(CDH23):c.6596T>A (p.Ile2199Asn) rs111033494 0.00368
NM_000435.3(NOTCH3):c.3719-11C>T rs78907190 0.00367
NM_014336.5(AIPL1):c.267C>T (p.Cys89=) rs62653020 0.00366
NM_147127.5(EVC2):c.2047-9A>T rs73198154 0.00366
NM_000283.4(PDE6B):c.1060-13G>A rs147482093 0.00365
NM_000435.3(NOTCH3):c.197+23C>A rs202151374 0.00365
NM_001291303.3(FAT4):c.12855T>C (p.Asp4285=) rs78040862 0.00365
NM_000448.3(RAG1):c.2659G>A (p.Asp887Asn) rs4151034 0.00364
NM_001005361.3(DNM2):c.2543+7C>G rs201979143 0.00364
NM_001267550.2(TTN):c.66160+16G>A rs149714835 0.00364
NM_000051.4(ATM):c.5497-15G>C rs3092828 0.00363
NM_000095.3(COMP):c.2227+8G>A rs116499541 0.00363
NM_001081.4(CUBN):c.10383C>T (p.Ser3461=) rs141937843 0.00363
NM_001395413.1(POR):c.508-14_508-13del rs72557912 0.00363
NM_001999.4(FBN2):c.6511+5G>A rs200608284 0.00363
NM_001267550.2(TTN):c.34474C>A (p.Pro11492Thr) rs182428755 0.00362
NM_005257.6(GATA6):c.1602A>G (p.Thr534=) rs146949786 0.00362
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208 0.00361
NM_001005361.3(DNM2):c.236-8C>G rs143084059 0.00361
NM_001142864.4(PIEZO1):c.1998-5C>T rs188058617 0.00361
NM_002156.5(HSPD1):c.1216-9C>T rs189395138 0.00361
NM_000093.5(COL5A1):c.1333-8A>G rs145620416 0.00360
NM_001370466.1(NOD2):c.735C>T (p.Ser245=) rs35090774 0.00360
NM_001457.4(FLNB):c.2382C>T (p.Asp794=) rs146159035 0.00360
NM_001005361.3(DNM2):c.519T>C (p.Ala173=) rs77702567 0.00359
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00359
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816 0.00358
NM_001365951.3(KIF1B):c.2115+6183T>C rs149241091 0.00357
NM_001844.5(COL2A1):c.4449G>A (p.Pro1483=) rs41272771 0.00357
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310 0.00357
NM_002755.4(MAP2K1):c.927A>T (p.Ala309=) rs146869577 0.00357
NM_147127.5(EVC2):c.2601C>T (p.Ala867=) rs116514447 0.00357
NM_000052.7(ATP7A):c.491G>A (p.Ser164Asn) rs144655617 0.00356
NM_000059.4(BRCA2):c.2960A>T (p.Asn987Ile) rs2227944 0.00356
NM_000112.4(SLC26A2):c.*83T>G rs143847430 0.00356
NM_000132.4(F8):c.389-9C>T rs35621875 0.00356
NM_000548.5(TSC2):c.2545+26G>A rs45517242 0.00356
NM_017636.4(TRPM4):c.449-14C>T rs112328642 0.00356
NM_000059.4(BRCA2):c.2786T>C (p.Leu929Ser) rs2227943 0.00355
NM_004004.6(GJB2):c.-6T>A rs148136545 0.00355
NM_015512.5(DNAH1):c.3090G>A (p.Ala1030=) rs140275399 0.00355
NM_024753.5(TTC21B):c.1571C>G (p.Ser524Cys) rs145436538 0.00355
NM_001142864.4(PIEZO1):c.2330-16C>T rs9940889 0.00354
NM_001142864.4(PIEZO1):c.2689C>T (p.Leu897=) rs150958604 0.00354
NM_001243133.2(NLRP3):c.1389C>T (p.His463=) rs111400208 0.00354
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409 0.00354
NM_153717.3(EVC):c.1855G>A (p.Val619Ile) rs111293777 0.00354
NM_206933.4(USH2A):c.14543G>A (p.Arg4848Gln) rs77211159 0.00354
NM_000089.4(COL1A2):c.3849T>C (p.Thr1283=) rs34038163 0.00352
NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val) rs41313697 0.00352
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=) rs41313693 0.00351
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=) rs45548237 0.00350
NM_000548.5(TSC2):c.1361+18G>C rs140223009 0.00350
NM_001005361.3(DNM2):c.1545+14C>G rs114713494 0.00350
NM_001243133.2(NLRP3):c.397+7G>A rs192297357 0.00350
NM_021939.4(FKBP10):c.504C>T (p.Pro168=) rs113640022 0.00350
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=) rs41313703 0.00349
NM_006506.5(RASA2):c.17C>T (p.Pro6Leu) rs201352230 0.00349
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_000535.7(PMS2):c.1266G>A (p.Glu422=) rs138049175 0.00348
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659 0.00346
NM_000093.5(COL5A1):c.5270C>T (p.Thr1757Met) rs2229817 0.00346
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu) rs41308435 0.00346
NM_020297.4(ABCC9):c.2523C>T (p.Ala841=) rs144537241 0.00345
NM_080680.3(COL11A2):c.2520G>A (p.Arg840=) rs117237998 0.00345
NM_000091.5(COL4A3):c.4893C>T (p.Phe1631=) rs183218622 0.00344
NM_002471.4(MYH6):c.5475G>A (p.Glu1825=) rs79143968 0.00344
NM_004281.4(BAG3):c.249C>A (p.His83Gln) rs151331972 0.00344
NM_014249.4(NR2E3):c.349+8G>A rs112520386 0.00344
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_001267550.2(TTN):c.75441A>G (p.Lys25147=) rs56151652 0.00343
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe) rs146181116 0.00343
NM_001303256.3(MORC2):c.158-12del rs66613527 0.00343
NM_017617.5(NOTCH1):c.2207+10G>A rs191892426 0.00343
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972 0.00343
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656 0.00342
NM_006231.4(POLE):c.2468+10C>T rs5744823 0.00342
NM_000243.3(MEFV):c.1467G>A (p.Gln489=) rs61732424 0.00341
NM_002661.5(PLCG2):c.1444T>C (p.Tyr482His) rs187956469 0.00341
NM_004281.4(BAG3):c.606G>T (p.Pro202=) rs74157690 0.00341
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=) rs61751538 0.00341
NM_147127.5(EVC2):c.2029C>A (p.Arg677=) rs73198165 0.00341
NM_174934.4(SCN4B):c.639C>T (p.Asn213=) rs72544155 0.00341
NM_000089.4(COL1A2):c.975A>T (p.Gly325=) rs148063325 0.00340
NM_001148.6(ANK2):c.9454A>G (p.Thr3152Ala) rs61741040 0.00340
NM_182961.4(SYNE1):c.19991C>T (p.Thr6664Ile) rs35079654 0.00339
NM_000089.4(COL1A2):c.1036-14G>A rs114322680 0.00338
NM_004958.4(MTOR):c.7455C>T (p.Asp2485=) rs41274506 0.00338
NM_001003800.2(BICD2):c.2445G>A (p.Pro815=) rs34451610 0.00337
NM_174936.4(PCSK9):c.1354+9G>T rs72646516 0.00337
NM_001540.5(HSPB1):c.9G>A (p.Glu3=) rs77586767 0.00336
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=) rs34355306 0.00335
NM_015512.5(DNAH1):c.2204G>A (p.Ser735Asn) rs187636110 0.00334
NM_020919.4(ALS2):c.475G>A (p.Glu159Lys) rs3219155 0.00334
NM_147127.5(EVC2):c.1224C>T (p.Ala408=) rs114629810 0.00334
NM_001035.3(RYR2):c.13740G>A (p.Thr4580=) rs115854664 0.00333
NM_001291303.3(FAT4):c.12070C>T (p.Arg4024Trp) rs138019311 0.00333
NM_001457.4(FLNB):c.3240G>A (p.Pro1080=) rs77989135 0.00333
NM_002661.5(PLCG2):c.2161G>A (p.Glu721Lys) rs187454354 0.00333
NM_000548.5(TSC2):c.729C>G (p.Leu243=) rs45473698 0.00332
NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr) rs72648923 0.00332
NM_003476.5(CSRP3):c.508+18C>T rs144404101 0.00332
NM_004360.5(CDH1):c.833-16C>G rs33984587 0.00332
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00331
NM_000245.4(MET):c.-14-4G>A rs144126521 0.00331
NM_001355436.2(SPTB):c.345T>C (p.Asn115=) rs17180518 0.00330
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=) rs77351928 0.00330
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026 0.00329
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_000142.5(FGFR3):c.1014C>T (p.Thr338=) rs4647928 0.00328
NM_001130823.3(DNMT1):c.4599C>T (p.Leu1533=) rs145860233 0.00328
NM_004281.4(BAG3):c.187C>G (p.Pro63Ala) rs144041999 0.00328
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_206933.4(USH2A):c.15297+3A>G rs57754754 0.00327
NM_001267550.2(TTN):c.9150A>G (p.Thr3050=) rs72647886 0.00326
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363 0.00325
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val) rs41561818 0.00325
NM_182961.4(SYNE1):c.21882C>A (p.Gly7294=) rs35106977 0.00325
NM_000138.5(FBN1):c.2678-15C>T rs181681840 0.00324
NM_004183.4(BEST1):c.868-17C>A rs148662546 0.00324
NM_006329.4(FBLN5):c.620-8T>C rs147699855 0.00324
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser) rs78540316 0.00323
NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val) rs72646891 0.00322
NM_001355436.2(SPTB):c.4618A>C (p.Arg1540=) rs61989884 0.00322
NM_001457.4(FLNB):c.3264C>T (p.Ser1088=) rs112864468 0.00322
NM_002335.4(LRP5):c.2139G>A (p.Val713=) rs34369535 0.00322
NM_006017.3(PROM1):c.1497C>T (p.Ile499=) rs113895168 0.00322
NM_058216.3(RAD51C):c.186A>G (p.Gln62=) rs28363303 0.00322
NM_000243.3(MEFV):c.1759+8C>T rs77380520 0.00321
NM_000254.3(MTR):c.1076-8C>T rs115186224 0.00321
NM_001142864.4(PIEZO1):c.627A>G (p.Ala209=) rs140142474 0.00321
NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=) rs111866498 0.00321
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_001365951.3(KIF1B):c.2115+7031T>C rs149267056 0.00320
NM_000527.5(LDLR):c.67+18C>A rs17242759 0.00319
NM_001039213.4(CEACAM16):c.234C>T (p.Gly78=) rs73568059 0.00319
NM_001457.4(FLNB):c.4222+19A>C rs146229370 0.00319
NM_004333.6(BRAF):c.1227A>G (p.Ser409=) rs145035762 0.00318
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=) rs140003804 0.00317
NM_001267550.2(TTN):c.32743G>C (p.Ala10915Pro) rs72650032 0.00317
NM_004281.4(BAG3):c.181-9T>A rs139232658 0.00317
NM_006363.6(SEC23B):c.835-7A>G rs184484121 0.00317
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_001110556.2(FLNA):c.1998G>A (p.Ala666=) rs34510365 0.00316
NM_001368067.1(LDB3):c.546T>C (p.Ser182=) rs71473272 0.00316
NM_018979.4(WNK1):c.3654A>G (p.Ser1218=) rs141971833 0.00316
NM_015512.5(DNAH1):c.872-15C>T rs143657729 0.00315
NM_001103.4(ACTN2):c.1932C>A (p.Ala644=) rs144680712 0.00314
NM_000536.4(RAG2):c.22G>A (p.Val8Ile) rs150762709 0.00313
NM_001084.5(PLOD3):c.123G>A (p.Val41=) rs112321807 0.00313
NM_001110556.2(FLNA):c.1582G>A (p.Val528Met) rs143873938 0.00313
NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met) rs143543800 0.00313
NM_000346.4(SOX9):c.276G>T (p.Pro92=) rs139490970 0.00312
NM_000518.4(HBB):c.-133G>A rs72561473 0.00312
NM_001035.3(RYR2):c.11476+15C>T rs192323827 0.00312
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_007078.3(LDB3):c.147G>A (p.Val49=) rs45591834 0.00312
NM_024675.4(PALB2):c.1572A>G (p.Ser524=) rs45472400 0.00312
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_001267550.2(TTN):c.30231A>G (p.Pro10077=) rs74324101 0.00310
NM_004656.4(BAP1):c.1002A>G (p.Leu334=) rs28997577 0.00310
NM_015512.5(DNAH1):c.11788-14C>T rs141567808 0.00310
NM_015512.5(DNAH1):c.12375A>T (p.Thr4125=) rs61734637 0.00310
NM_017636.4(TRPM4):c.3611C>T (p.Pro1204Leu) rs150391806 0.00310
NM_002471.4(MYH6):c.1071C>T (p.Ile357=) rs58131640 0.00309
NM_000038.6(APC):c.3471G>A (p.Glu1157=) rs143927847 0.00308
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_001035.3(RYR2):c.9666C>T (p.Ala3222=) rs116442127 0.00308
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_002693.3(POLG):c.2481-7C>T rs2307448 0.00307
NM_004006.3(DMD):c.802T>C (p.Leu268=) rs1800264 0.00307
NM_000384.3(APOB):c.8353A>C (p.Asn2785His) rs2163204 0.00306
NM_000435.3(NOTCH3):c.2202C>T (p.Ala734=) rs140040122 0.00306
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795 0.00306
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys) rs1801696 0.00305
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
NM_001613.4(ACTA2):c.417G>A (p.Gln139=) rs111265233 0.00305
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_005633.4(SOS1):c.2673+14T>C rs183998234 0.00304
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys) rs119103280 0.00303
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=) rs138418906 0.00302
NM_015512.5(DNAH1):c.10422T>C (p.Leu3474=) rs148913561 0.00302
NM_015512.5(DNAH1):c.2744A>G (p.Asn915Ser) rs61734643 0.00302
NM_001199397.3(NEK1):c.3285C>T (p.Pro1095=) rs140408058 0.00301
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_015512.5(DNAH1):c.4263C>T (p.Pro1421=) rs61739897 0.00300
NM_004655.4(AXIN2):c.1530G>A (p.Thr510=) rs141014640 0.00299
NM_000548.5(TSC2):c.228C>T (p.His76=) rs45517097 0.00297
NM_003482.4(KMT2D):c.13644C>T (p.Ser4548=) rs201119371 0.00297
NM_000142.5(FGFR3):c.1076-16G>A rs3135889 0.00296
NM_000162.5(GCK):c.46-12C>T rs142829768 0.00296
NM_001142864.4(PIEZO1):c.4356G>C (p.Val1452=) rs557970560 0.00296
NM_001244008.2(KIF1A):c.2266-20G>A rs141243762 0.00296
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=) rs139721775 0.00296
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_000435.3(NOTCH3):c.2411-4C>G rs190177286 0.00295
NM_000492.4(CFTR):c.4242+13A>G rs76179227 0.00295
NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile) rs148278887 0.00295
NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=) rs34439033 0.00295
NM_002691.4(POLD1):c.778A>G (p.Ile260Val) rs8105725 0.00295
NM_003954.5(MAP3K14):c.114C>T (p.Ser38=) rs143313926 0.00295
NM_000238.4(KCNH2):c.3152+12C>A rs72549420 0.00293
NM_000441.2(SLC26A4):c.849G>C (p.Met283Ile) rs146348818 0.00293
NM_001267550.2(TTN):c.23301C>T (p.Ser7767=) rs73038337 0.00293
NM_005529.7(HSPG2):c.4877G>A (p.Arg1626His) rs41311989 0.00293
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) rs36024203 0.00293
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn) rs2219594 0.00292
NM_000142.5(FGFR3):c.393G>A (p.Ser131=) rs55662109 0.00292
NM_002473.6(MYH9):c.5181G>A (p.Leu1727=) rs115170675 0.00292
NM_007375.4(TARDBP):c.198T>C (p.Ala66=) rs61730366 0.00292
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584 0.00291
NM_006579.3(EBP):c.382C>T (p.Leu128=) rs142881014 0.00291
NM_000059.4(BRCA2):c.7805+6C>G rs81002819 0.00290
NM_002691.4(POLD1):c.1977C>T (p.Ile659=) rs45605236 0.00290
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_024577.4(SH3TC2):c.558C>T (p.Ser186=) rs141289653 0.00290
NM_000298.6(PKLR):c.181C>T (p.Leu61=) rs8177962 0.00289
NM_015512.5(DNAH1):c.1286+16G>A rs190176840 0.00289
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657 0.00288
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=) rs35986575 0.00288
NM_001142864.4(PIEZO1):c.5838C>T (p.Phe1946=) rs116855700 0.00288
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780 0.00288
NM_007078.3(LDB3):c.2016C>T (p.Cys672=) rs45578640 0.00288
NM_181882.3(PRX):c.3846G>A (p.Ser1282=) rs143289108 0.00288
NM_000051.4(ATM):c.3993+5G>T rs3092842 0.00287
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=) rs45438898 0.00287
NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln) rs72677233 0.00287
NM_001267550.2(TTN):c.7061G>A (p.Arg2354His) rs75031300 0.00287
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926 0.00287
NM_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile) rs72466496 0.00287
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_001355436.2(SPTB):c.4236C>T (p.Thr1412=) rs229639 0.00286
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439 0.00286
NM_001458.5(FLNC):c.4928-7T>C rs201957008 0.00286
NM_001235.5(SERPINH1):c.744C>T (p.Asp248=) rs61733248 0.00285
NM_020779.4(WDR35):c.2262C>T (p.Asp754=) rs147206032 0.00285
NM_000335.5(SCN5A):c.2436+12G>A rs41312419 0.00284
NM_000518.5(HBB):c.*96T>C rs34029390 0.00283
NM_001035.3(RYR2):c.1218G>A (p.Ser406=) rs147389346 0.00283
NM_006506.5(RASA2):c.1603A>G (p.Ile535Val) rs143035190 0.00283
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546 0.00283
NM_001148.6(ANK2):c.10395G>A (p.Glu3465=) rs147423696 0.00282
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=) rs1800219 0.00281
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu) rs2229073 0.00281
NM_006363.6(SEC23B):c.993+19G>A rs144225458 0.00281
NM_001164277.2(SLC37A4):c.593A>T (p.Asn198Ile) rs34203644 0.00280
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr) rs140811086 0.00280
NM_016203.4(PRKAG2):c.1296G>A (p.Thr432=) rs114079815 0.00280
NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser) rs112532048 0.00279
NM_001303256.3(MORC2):c.226+18T>C rs114021247 0.00279
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=) rs35504014 0.00278
NM_002890.3(RASA1):c.209A>G (p.Glu70Gly) rs146525982 0.00278
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_000254.3(MTR):c.250-7G>A rs184332230 0.00277
NM_053025.4(MYLK):c.984G>A (p.Ser328=) rs115018449 0.00277
NM_000548.5(TSC2):c.4006-8C>T rs45517325 0.00275
NM_182925.5(FLT4):c.2860C>T (p.Pro954Ser) rs34255532 0.00275
NM_206933.4(USH2A):c.6041A>C (p.Asn2014Thr) rs147883884 0.00275
NM_000092.5(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437 0.00274
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu) rs72646840 0.00274
NM_006005.3(WFS1):c.2205C>T (p.Tyr735=) rs71530911 0.00274
NM_017636.4(TRPM4):c.1368C>G (p.Thr456=) rs56118173 0.00274
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664 0.00272
NM_002109.6(HARS1):c.614G>A (p.Gly205Asp) rs147288996 0.00272
NM_000141.5(FGFR2):c.170C>T (p.Ser57Leu) rs56226109 0.00271
NM_024426.6(WT1):c.181C>A (p.Arg61=) rs2234581 0.00270
NM_000368.5(TSC1):c.2646C>T (p.Ala882=) rs118203720 0.00269
NM_005359.6(SMAD4):c.455-6A>G rs181178864 0.00269
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_000138.5(FBN1):c.7497A>G (p.Leu2499=) rs148516442 0.00268
NM_005359.6(SMAD4):c.354G>A (p.Ala118=) rs145988618 0.00268
NM_001148.6(ANK2):c.4152T>C (p.Asp1384=) rs116128106 0.00267
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00266
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg) rs641252 0.00265
NM_001035.3(RYR2):c.5613C>T (p.Asp1871=) rs116774472 0.00265
NM_001142864.4(PIEZO1):c.7495T>C (p.Leu2499=) rs35736353 0.00265
NM_001148.6(ANK2):c.3543C>T (p.Ala1181=) rs76685232 0.00265
NM_001267550.2(TTN):c.76113A>G (p.Glu25371=) rs140350441 0.00265
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn) rs34309943 0.00264
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00264
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811 0.00264
NM_001457.4(FLNB):c.5426-10G>A rs183917041 0.00264
NM_001614.5(ACTG1):c.471C>T (p.Asp157=) rs11549222 0.00264
NM_078470.6(COX15):c.1026C>T (p.Phe342=) rs147724430 0.00264
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser) rs72648949 0.00262
NM_004958.4(MTOR):c.985G>A (p.Ala329Thr) rs35903812 0.00262
NM_144573.4(NEXN):c.995A>C (p.Glu332Ala) rs201763096 0.00262
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=) rs34201226 0.00261
NM_004360.5(CDH1):c.1680G>C (p.Thr560=) rs35741240 0.00261
NM_020297.4(ABCC9):c.2093-7T>C rs185235724 0.00261
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00260
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=) rs144426409 0.00259
NM_002230.4(JUP):c.1159-13C>A rs201627219 0.00258
NM_000391.4(TPP1):c.840G>C (p.Leu280=) rs140349036 0.00257
NM_000744.7(CHRNA4):c.9A>G (p.Leu3=) rs80075498 0.00257
NM_002474.3(MYH11):c.5691C>T (p.Asn1897=) rs149566621 0.00257
NM_002834.5(PTPN11):c.332+17T>G rs115658366 0.00257
NM_000238.4(KCNH2):c.3153-15C>T rs41313755 0.00256
NM_001003800.2(BICD2):c.454-19T>C rs114997314 0.00256
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=) rs3027927 0.00256
NM_001148.6(ANK2):c.3366C>T (p.Asn1122=) rs114896457 0.00256
NM_014000.3(VCL):c.2025G>A (p.Val675=) rs140766884 0.00256
NM_000038.6(APC):c.3264G>A (p.Lys1088=) rs114774495 0.00255
NM_004360.5(CDH1):c.324A>G (p.Arg108=) rs116542018 0.00255
NM_017780.4(CHD7):c.7209G>A (p.Arg2403=) rs61746518 0.00255
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=) rs41310953 0.00253
NM_021815.5(SLC5A7):c.713A>G (p.Tyr238Cys) rs142776152 0.00253
NM_001457.4(FLNB):c.1044C>T (p.Asp348=) rs111996979 0.00252
NM_001458.5(FLNC):c.4737+15A>G rs182734223 0.00252
NM_007294.4(BRCA1):c.4987-20A>G rs80358035 0.00252
NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln) rs142647321 0.00251
NM_001267550.2(TTN):c.96501T>C (p.Ser32167=) rs139223781 0.00251
NM_001999.4(FBN2):c.8247A>G (p.Thr2749=) rs116413101 0.00251
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171 0.00250
NM_000141.5(FGFR2):c.17G>C (p.Arg6Pro) rs3750819 0.00250
NM_003126.4(SPTA1):c.798A>G (p.Leu266=) rs36058424 0.00250
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly) rs112089123 0.00250
NM_021939.4(FKBP10):c.1734C>T (p.Val578=) rs115239900 0.00250
NM_022489.4(INF2):c.1049C>T (p.Pro350Leu) rs146529868 0.00250
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_001130823.3(DNMT1):c.1944C>T (p.Phe648=) rs61750052 0.00249
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699 0.00249
NM_018706.7(DHTKD1):c.628G>T (p.Ala210Ser) rs146741810 0.00249
NM_000243.3(MEFV):c.1587+18C>T rs11466030 0.00248
NM_001145809.2(MYH14):c.5529C>T (p.Ser1843=) rs12610591 0.00248
NM_001457.4(FLNB):c.4222+8A>G rs190025781 0.00248
NM_020297.4(ABCC9):c.407-14C>A rs201279882 0.00248
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn) rs111033369 0.00248
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112 0.00247
NM_000257.4(MYH7):c.3853+7C>T rs45467397 0.00247
NM_000384.3(APOB):c.1785C>G (p.Ser595=) rs139864087 0.00247
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=) rs72650077 0.00247
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186 0.00247
NM_004444.5(EPHB4):c.2679-18C>T rs199981207 0.00247
NM_014000.3(VCL):c.2023-20A>G rs143756084 0.00247
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=) rs116302615 0.00246
NM_003467.3(CXCR4):c.783C>T (p.Ile261=) rs148279552 0.00246
NM_025132.4(WDR19):c.2142+12G>A rs149621476 0.00246
NM_000088.4(COL1A1):c.4257C>T (p.Thr1419=) rs144134990 0.00245
NM_000090.4(COL3A1):c.1927T>C (p.Leu643=) rs41263757 0.00244
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482 0.00244
NM_000089.4(COL1A2):c.595-20C>T rs192022673 0.00242
NM_000089.4(COL1A2):c.96+10C>T rs185341110 0.00242
NM_001142864.4(PIEZO1):c.2655C>T (p.Asn885=) rs140224299 0.00242
NM_002381.5(MATN3):c.1169-10G>A rs149849256 0.00242
NM_002474.3(MYH11):c.453G>A (p.Pro151=) rs61734199 0.00242
NM_003072.5(SMARCA4):c.2757C>T (p.Pro919=) rs113955216 0.00241
NM_001711.6(BGN):c.573C>T (p.Gly191=) rs148808913 0.00240
NM_002474.3(MYH11):c.3828G>A (p.Ala1276=) rs113154524 0.00240
NM_005138.3(SCO2):c.201C>T (p.Phe67=) rs61748568 0.00240
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=) rs145896974 0.00240
NM_177438.3(DICER1):c.1377-4T>G rs192490028 0.00240
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_001035.3(RYR2):c.6441-19C>T rs140440259 0.00239
NM_004990.4(MARS1):c.2204+11G>A rs202080192 0.00239
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=) rs17886566 0.00238
NM_002471.4(MYH6):c.1449C>T (p.Asn483=) rs145447555 0.00238
NM_003482.4(KMT2D):c.6573G>A (p.Thr2191=) rs202085637 0.00238
NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=) rs61751536 0.00238
NM_194454.3(KRIT1):c.1095A>G (p.Gly365=) rs143710815 0.00238
NM_001378183.1(PIEZO2):c.7326C>T (p.Tyr2442=) rs72970080 0.00237
NM_001065.4(TNFRSF1A):c.1110C>T (p.Arg370=) rs201683984 0.00236
NM_001605.3(AARS1):c.1672-4T>A rs187509039 0.00236
NM_004360.5(CDH1):c.345G>A (p.Thr115=) rs1801023 0.00236
NM_032119.4(ADGRV1):c.22+9T>C rs368604803 0.00236
NM_000089.4(COL1A2):c.2700C>T (p.Ala900=) rs141688356 0.00235
NM_007215.4(POLG2):c.1158T>G (p.Asp386Glu) rs61751983 0.00235
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=) rs186453356 0.00235
NM_024753.5(TTC21B):c.1846C>T (p.Arg616Cys) rs139441507 0.00235
NM_000441.2(SLC26A4):c.1545-5T>G rs77944876 0.00234
NM_000518.5(HBB):c.315+26T>G rs368604295 0.00234
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219 0.00234
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr) rs72648953 0.00233
NM_005633.4(SOS1):c.570C>T (p.Asp190=) rs55980502 0.00233
NM_007294.4(BRCA1):c.114G>A (p.Lys38=) rs1800062 0.00233
NM_001457.4(FLNB):c.4377T>C (p.Val1459=) rs149921907 0.00232
NM_000554.6(CRX):c.196G>A (p.Val66Ile) rs61748438 0.00231
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=) rs56329646 0.00231
NM_001103.4(ACTN2):c.1423G>A (p.Asp475Asn) rs80257412 0.00230
NM_001852.4(COL9A2):c.1981C>A (p.Pro661Thr) rs140041506 0.00230
NM_003242.6(TGFBR2):c.1525-8C>T rs11466530 0.00230
NM_005257.6(GATA6):c.1374C>T (p.Asn458=) rs143026087 0.00230
NM_005529.7(HSPG2):c.3657-16C>G rs139310195 0.00230
NM_001457.4(FLNB):c.274A>G (p.Ile92Val) rs62622011 0.00229
NM_053025.4(MYLK):c.24C>G (p.Ala8=) rs78118111 0.00229
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=) rs61754138 0.00228
NM_001244008.2(KIF1A):c.4889G>A (p.Arg1630Gln) rs191428830 0.00228
NM_001267550.2(TTN):c.70815G>A (p.Val23605=) rs55847238 0.00228
NM_001354768.3(NRL):c.-28+11222A>G rs190213824 0.00228
NM_001365951.3(KIF1B):c.2330A>G (p.Asn777Ser) rs117525287 0.00228
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250 0.00228
NM_006363.6(SEC23B):c.2298C>T (p.Ala766=) rs77945587 0.00228
NM_014000.3(VCL):c.1671C>T (p.Asp557=) rs137877092 0.00228
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00227
NM_001303256.3(MORC2):c.2238A>G (p.Glu746=) rs41279975 0.00227
NM_002474.3(MYH11):c.4239C>T (p.Ala1413=) rs138573101 0.00226
NM_001999.4(FBN2):c.2428+6T>A rs77493726 0.00225
NM_005251.3(FOXC2):c.426G>A (p.Lys142=) rs41312258 0.00225
NM_021625.5(TRPV4):c.1824+4C>T rs147259744 0.00225
NM_001382430.1(AKT1):c.1020C>T (p.Tyr340=) rs144088506 0.00224
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser) rs72648925 0.00223
NM_004990.4(MARS1):c.280-14C>T rs183195960 0.00223
NM_006005.3(WFS1):c.2124C>T (p.Arg708=) rs61735401 0.00223
NM_000088.4(COL1A1):c.999C>T (p.Pro333=) rs62637627 0.00222
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_000492.4(CFTR):c.1210-13del rs750294275 0.00222
NM_004984.4(KIF5A):c.1293+9G>A rs201749114 0.00222
NM_005219.5(DIAPH1):c.1407T>C (p.Ile469=) rs75860159 0.00222
NM_005343.4(HRAS):c.477G>A (p.Leu159=) rs140060409 0.00222
NM_015512.5(DNAH1):c.334-12G>A rs144102868 0.00222
NM_000089.4(COL1A2):c.594+5A>T rs200744314 0.00220
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862 0.00220
NM_033056.4(PCDH15):c.5286T>A (p.Pro1762=) rs58461416 0.00220
NM_147127.5(EVC2):c.2151C>T (p.His717=) rs144584049 0.00220
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319 0.00219
NM_001379610.1(SPINK1):c.88-23A>T rs199929811 0.00219
NM_002474.3(MYH11):c.3652-6C>T rs193922630 0.00219
NM_001303256.3(MORC2):c.2841+20C>T rs192723178 0.00218
NM_001498.4(GCLC):c.1478-6C>T rs17880746 0.00218
NM_004281.4(BAG3):c.-17G>A rs200388926 0.00218
NM_182925.5(FLT4):c.3681C>T (p.Ala1227=) rs140710164 0.00218
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236 0.00217
NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met) rs141320511 0.00217
NM_001164730.2(REEP1):c.53+17G>T rs185618007 0.00217
NM_001267550.2(TTN):c.1398+18A>G rs72647849 0.00217
NM_001457.4(FLNB):c.4362G>A (p.Pro1454=) rs150844992 0.00217
NM_002471.4(MYH6):c.3883G>C (p.Glu1295Gln) rs34935550 0.00217
NM_005529.7(HSPG2):c.11937C>T (p.Phe3979=) rs143431746 0.00217
NM_015340.4(LARS2):c.2547T>C (p.Ala849=) rs78587006 0.00217
NM_206933.4(USH2A):c.5993G>A (p.Arg1998His) rs143624066 0.00217
NM_001199397.3(NEK1):c.782G>A (p.Arg261His) rs200161705 0.00216
NM_001366110.1(PAX4):c.456C>T (p.Val152=) rs61749955 0.00216
NM_000051.4(ATM):c.370A>G (p.Ile124Val) rs148590073 0.00215
NM_001126121.2(SLC25A19):c.483C>T (p.Ala161=) rs142281464 0.00215
NM_001267550.2(TTN):c.32367G>A (p.Lys10789=) rs79232842 0.00215
NM_006070.6(TFG):c.415+16A>G rs201290760 0.00215
NM_000435.3(NOTCH3):c.2175T>C (p.Ser725=) rs141993521 0.00214
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=) rs370286749 0.00214
NM_006182.4(DDR2):c.1224C>A (p.Ile408=) rs143928882 0.00214
NM_020433.5(JPH2):c.562C>T (p.Pro188Ser) rs574746149 0.00214
NM_206933.4(USH2A):c.14960C>T (p.Ala4987Val) rs111033498 0.00214
NM_000038.6(APC):c.705A>G (p.Leu235=) rs147036141 0.00213
NM_000311.5(PRNP):c.372C>G (p.Gly124=) rs201423990 0.00213
NM_002047.4(GARS1):c.1031+14T>G rs189589556 0.00213
NM_022489.4(INF2):c.2138+9G>A rs201065953 0.00213
NM_000492.4(CFTR):c.2620-15C>G rs139379077 0.00212
NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=) rs180787556 0.00212
NM_001458.5(FLNC):c.2889G>A (p.Pro963=) rs191892345 0.00212
NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp) rs144888041 0.00212
NM_004006.3(DMD):c.31+36946C>T rs186833917 0.00211
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637 0.00210
NM_000719.7(CACNA1C):c.1176G>T (p.Gly392=) rs1051360 0.00209
NM_001142864.4(PIEZO1):c.1998-10C>T rs74033378 0.00209
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845 0.00209
NM_020297.4(ABCC9):c.3768T>C (p.Leu1256=) rs150303433 0.00209
NM_001148.6(ANK2):c.6648C>G (p.Gly2216=) rs140926982 0.00208
NM_000335.5(SCN5A):c.354C>T (p.His118=) rs45533640 0.00207
NM_004612.4(TGFBR1):c.1152C>T (p.Leu384=) rs115324990 0.00207
NM_147127.5(EVC2):c.18C>T (p.Ser6=) rs556910528 0.00207
NM_000484.4(APP):c.2212-11_2212-10del rs112965435 0.00206
NM_001267550.2(TTN):c.87707-4G>T rs201770959 0.00206
NM_004990.4(MARS1):c.1500A>G (p.Lys500=) rs2290297 0.00206
NM_000346.4(SOX9):c.685+8G>A rs117696751 0.00205
NM_001035.3(RYR2):c.2760G>A (p.Glu920=) rs186181155 0.00205
NM_153717.3(EVC):c.939+9C>T rs201282320 0.00205
NM_000256.3(MYBPC3):c.2309-27G>A rs150212048 0.00204
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln) rs115346085 0.00204
NM_080680.3(COL11A2):c.4458T>A (p.Gly1486=) rs143186319 0.00204
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008 0.00203
NM_000256.3(MYBPC3):c.1458-17C>T rs3729945 0.00203
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) rs72677232 0.00202
NM_001267550.2(TTN):c.5231C>T (p.Pro1744Leu) rs75686037 0.00202
NM_004239.4(TRIP11):c.4413A>C (p.Thr1471=) rs144780536 0.00202
NM_001498.4(GCLC):c.1703-11C>G rs2066507 0.00201
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862 0.00201
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_001999.4(FBN2):c.738G>A (p.Ala246=) rs150087436 0.00200
NM_001308093.3(GATA4):c.99G>T (p.Ala33=) rs56166237 0.00199
NM_001457.4(FLNB):c.5091C>T (p.Asn1697=) rs141357606 0.00199
NM_004006.3(DMD):c.10087-20C>T rs41303187 0.00198
NM_014000.3(VCL):c.2434+19T>C rs188216596 0.00198
NM_002691.4(POLD1):c.56G>A (p.Arg19His) rs3218773 0.00197
NM_000335.5(SCN5A):c.1681C>T (p.Leu561=) rs45522138 0.00196
NM_001142864.4(PIEZO1):c.7332C>T (p.Tyr2444=) rs140778010 0.00196
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val) rs147327414 0.00195
NM_001614.5(ACTG1):c.684C>T (p.Ala228=) rs143125497 0.00195
NM_004006.3(DMD):c.2380+11G>A rs183120304 0.00195
NM_005327.7(HADH):c.456G>T (p.Gln152His) rs1051519 0.00195
NM_005529.7(HSPG2):c.9327C>T (p.His3109=) rs61743674 0.00195
NM_053025.4(MYLK):c.4620-6C>T rs113607507 0.00195
NM_000093.5(COL5A1):c.1158C>T (p.Ser386=) rs61729497 0.00194
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=) rs113194608 0.00194
NM_000342.4(SLC4A1):c.1314G>A (p.Ser438=) rs13306781 0.00193
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995 0.00193
NM_001072.4(UGT1A6):c.105C>T (p.Asp35=) rs45535938 0.00193
NM_001377.3(DYNC2H1):c.7128A>G (p.Ala2376=) rs371410128 0.00193
NM_001943.5(DSG2):c.6G>A (p.Ala2=) rs368809971 0.00193
NM_014000.3(VCL):c.1353-19G>A rs145537824 0.00193
NM_020297.4(ABCC9):c.1677G>A (p.Ala559=) rs76458291 0.00193
NM_000350.3(ABCA4):c.5196+1159G>A rs80110715 0.00191
NM_021625.5(TRPV4):c.1713C>G (p.Ile571Met) rs185933892 0.00191
NM_000363.5(TNNI3):c.550-10C>T rs201240150 0.00190
NM_000551.4(VHL):c.340+5G>C rs61758376 0.00190
NM_001605.3(AARS1):c.2521-3C>T rs200586605 0.00190
NM_007194.4(CHEK2):c.1407G>A (p.Val469=) rs17881378 0.00190
NM_133379.5(TTN):c.14754T>G (p.Pro4918=) rs72648908 0.00190
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255 0.00190
NM_000814.6(GABRB3):c.682+20A>G rs75015217 0.00189
NM_001927.4(DES):c.324G>A (p.Glu108=) rs138677215 0.00189
NM_000249.4(MLH1):c.790+10A>G rs182733777 0.00188
NM_000435.3(NOTCH3):c.3718+13G>T rs201077354 0.00188
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) rs142317580 0.00188
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_004239.4(TRIP11):c.5246A>C (p.Glu1749Ala) rs2273183 0.00188
NM_005188.4(CBL):c.1359A>C (p.Pro453=) rs34732429 0.00188
NM_020779.4(WDR35):c.2566G>T (p.Val856Phe) rs149667250 0.00188
NM_024426.6(WT1):c.123G>C (p.Pro41=) rs555140661 0.00188
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052 0.00187
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00186
NM_000141.5(FGFR2):c.1673-12C>T rs41293763 0.00186
NM_080680.3(COL11A2):c.4392+12C>T rs117267045 0.00186
NM_000350.3(ABCA4):c.3626T>C (p.Met1209Thr) rs76258939 0.00185
NM_001142864.4(PIEZO1):c.5883T>C (p.Tyr1961=) rs115213894 0.00185
NM_005188.4(CBL):c.870-19del rs548130600 0.00185
NM_005548.3(KARS1):c.170A>G (p.Asn57Ser) rs117041419 0.00185
NM_006005.3(WFS1):c.1530C>T (p.Tyr510=) rs35789242 0.00183
NM_007294.4(BRCA1):c.2814A>G (p.Pro938=) rs80356851 0.00183
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_000093.5(COL5A1):c.4230+5C>T rs142248898 0.00182
NM_000535.7(PMS2):c.23+10G>C rs192027828 0.00182
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586 0.00182
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=) rs61751539 0.00182
NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn) rs184740744 0.00181
NM_001370259.2(MEN1):c.597C>T (p.His199=) rs150512958 0.00181
NM_080680.3(COL11A2):c.1972-16C>T rs117435723 0.00181
NM_004168.4(SDHA):c.1911C>T (p.Val637=) rs11557098 0.00180
NM_177438.3(DICER1):c.1825G>T (p.Asp609Tyr) rs114947750 0.00180
NM_000088.4(COL1A1):c.3531+10C>A rs41316721 0.00179
NM_001999.4(FBN2):c.5353+19C>T rs183524866 0.00179
NM_003000.3(SDHB):c.423+20T>A rs190139590 0.00179
NM_024753.5(TTC21B):c.262+16G>A rs192525886 0.00179
NM_000257.4(MYH7):c.480C>T (p.Asn160=) rs45500700 0.00178
NM_001458.5(FLNC):c.561C>T (p.Asp187=) rs149474376 0.00178
NM_003482.4(KMT2D):c.14382+20C>T rs114500210 0.00178
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn) rs150673589 0.00178
NM_032119.4(ADGRV1):c.14515C>G (p.Gln4839Glu) rs79464236 0.00178
NM_000371.4(TTR):c.416C>T (p.Thr139Met) rs28933981 0.00177
NM_001374353.1(GLI2):c.1935G>A (p.Ser645=) rs114259687 0.00177
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln) rs112185887 0.00176
NM_000222.3(KIT):c.2805T>A (p.Ile935=) rs72549296 0.00176
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422 0.00176
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=) rs34025424 0.00176
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=) rs138407720 0.00175
NM_004281.4(BAG3):c.25A>G (p.Met9Val) rs137965903 0.00175
NM_004999.4(MYO6):c.2635G>A (p.Asp879Asn) rs60970824 0.00175
NM_017617.5(NOTCH1):c.3315G>T (p.Ala1105=) rs3812602 0.00175
NM_000142.5(FGFR3):c.1535-20G>A rs113557371 0.00174
NM_177438.3(DICER1):c.3972G>A (p.Lys1324=) rs45562437 0.00174
NM_020975.6(RET):c.468C>T (p.Ala156=) rs141290380 0.00173
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=) rs61754141 0.00173
NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser) rs187864727 0.00172
NM_001540.5(HSPB1):c.573T>C (p.Leu191=) rs34771861 0.00170
NM_006182.4(DDR2):c.1099+12A>C rs144350332 0.00170
NM_004655.4(AXIN2):c.1713-18G>A rs147664289 0.00169
NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=) rs116541276 0.00169
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723 0.00168
NM_001927.4(DES):c.792C>T (p.Asp264=) rs150370918 0.00168
NM_053025.4(MYLK):c.399G>T (p.Gln133His) rs140148380 0.00167
NM_000051.4(ATM):c.609C>T (p.Asp203=) rs144709948 0.00166
NM_005188.4(CBL):c.2484G>A (p.Pro828=) rs149533467 0.00166
NM_000368.5(TSC1):c.1726T>C (p.Leu576=) rs118203567 0.00165
NM_007294.4(BRCA1):c.21C>T (p.Arg7=) rs149402012 0.00165
NM_017636.4(TRPM4):c.2209G>A (p.Gly737Arg) rs145847114 0.00165
NM_002661.5(PLCG2):c.987G>A (p.Thr329=) rs200506549 0.00164
NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671 0.00164
NM_000384.3(APOB):c.3279C>G (p.Thr1093=) rs72653075 0.00163
NM_000719.7(CACNA1C):c.4624-9C>T rs377568567 0.00163
NM_031475.3(ESPN):c.1248G>A (p.Pro416=) rs139332523 0.00163
NM_080680.3(COL11A2):c.390G>C (p.Arg130=) rs149638770 0.00163
NM_000384.3(APOB):c.581C>T (p.Thr194Met) rs13306198 0.00162
NM_001035.3(RYR2):c.13782+20A>G rs368059068 0.00162
NM_006005.3(WFS1):c.1277G>A (p.Cys426Tyr) rs35218685 0.00160
NM_004360.5(CDH1):c.2292C>T (p.Asp764=) rs61747636 0.00159
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00158
NM_000090.4(COL3A1):c.3613A>G (p.Ile1205Val) rs2271683 0.00158
NM_000314.8(PTEN):c.1104T>C (p.Asp368=) rs35979531 0.00158
NM_001145809.2(MYH14):c.4685G>A (p.Arg1562Gln) rs140118363 0.00158
NM_001999.4(FBN2):c.5448A>G (p.Pro1816=) rs138022198 0.00158
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296 0.00158
NM_000143.4(FH):c.1236+14C>T rs149241949 0.00157
NM_001110792.2(MECP2):c.1071A>G (p.Lys357=) rs61752362 0.00157
NM_001370466.1(NOD2):c.2325G>T (p.Val775=) rs104895495 0.00157
NM_002661.5(PLCG2):c.2011A>G (p.Ile671Val) rs150833842 0.00157
NM_003000.3(SDHB):c.300T>C (p.Ser100=) rs11541235 0.00157
NM_033337.3(CAV3):c.336C>T (p.Ile112=) rs139985460 0.00157
NM_001035.3(RYR2):c.14756+12C>T rs2275693 0.00156
NM_001110556.2(FLNA):c.1429+8C>T rs202181557 0.00156
NM_002473.6(MYH9):c.5818G>A (p.Gly1940Arg) rs140588099 0.00156
NM_005633.4(SOS1):c.2988G>A (p.Pro996=) rs35462677 0.00156
NM_000540.3(RYR1):c.2622G>A (p.Ala874=) rs149381996 0.00155
NM_002474.3(MYH11):c.2961C>T (p.Ile987=) rs137988790 0.00155
NM_004444.5(EPHB4):c.1593C>T (p.Ser531=) rs55682161 0.00155
NM_001130823.3(DNMT1):c.2117+13G>A rs112660071 0.00153
NM_003072.5(SMARCA4):c.258C>T (p.Asp86=) rs115992445 0.00153
NM_004281.4(BAG3):c.909+17G>A rs139086861 0.00153
NM_004329.3(BMPR1A):c.1299C>T (p.Phe433=) rs150946485 0.00153
NM_023110.3(FGFR1):c.336C>T (p.Thr112=) rs148480919 0.00153
NM_032043.3(BRIP1):c.2061G>C (p.Val687=) rs112414873 0.00153
NM_053025.4(MYLK):c.4620-18G>A rs41305835 0.00153
NM_000141.5(FGFR2):c.454+14C>T rs112142377 0.00152
NM_001999.4(FBN2):c.953-8T>G rs201818403 0.00152
NM_206933.4(USH2A):c.3364T>G (p.Ser1122Ala) rs148135241 0.00152
NM_001365951.3(KIF1B):c.4596C>T (p.Pro1532=) rs147066476 0.00150
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=) rs142639688 0.00150
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218 0.00150
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile) rs56158747 0.00150
NM_001005361.3(DNM2):c.1902C>T (p.Asn634=) rs2229919 0.00149
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528 0.00149
NM_001355436.2(SPTB):c.6346-13dup rs555587693 0.00149
NM_001457.4(FLNB):c.6773-13C>A rs200653965 0.00149
NM_147127.5(EVC2):c.2394G>A (p.Arg798=) rs147173201 0.00149
NM_147127.5(EVC2):c.2395G>C (p.Asp799His) rs143491078 0.00149
NM_000112.4(SLC26A2):c.*600G>T rs143723255 0.00148
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=) rs363847 0.00148
NM_000492.4(CFTR):c.1393-42G>A rs34906874 0.00148
NM_000492.4(CFTR):c.2820T>G (p.Thr940=) rs60887846 0.00148
NM_001308093.3(GATA4):c.735C>T (p.Tyr245=) rs146696080 0.00148
NM_021625.5(TRPV4):c.1585-18C>T rs201974634 0.00148
NM_000363.5(TNNI3):c.109-17C>A rs139150276 0.00147
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=) rs4986844 0.00147
NM_000552.5(VWF):c.3789G>A (p.Ser1263=) rs199831474 0.00146
NM_001035.3(RYR2):c.309+7C>T rs377710043 0.00146
NM_002471.4(MYH6):c.3979-15C>A rs529249069 0.00146
NM_004006.3(DMD):c.2971G>C (p.Glu991Gln) rs72468667 0.00146
NM_002471.4(MYH6):c.3927T>C (p.Ser1309=) rs115742584 0.00145
NM_004239.4(TRIP11):c.-61C>T rs78222479 0.00145
NM_004360.5(CDH1):c.2440-6C>G rs139757930 0.00145
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met) rs55815649 0.00145
NM_020433.5(JPH2):c.642G>A (p.Ala214=) rs587780956 0.00145
NM_004281.4(BAG3):c.1587C>T (p.Ala529=) rs149358702 0.00144
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211 0.00144
NM_022114.4(PRDM16):c.3102C>T (p.Asn1034=) rs199853370 0.00144
NM_001035.3(RYR2):c.9067+12C>T rs112365440 0.00143
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196 0.00143
NM_004360.5(CDH1):c.1272C>T (p.Val424=) rs61756284 0.00143
NM_000142.5(FGFR3):c.678C>T (p.Tyr226=) rs141575580 0.00142
NM_000548.5(TSC2):c.1276C>T (p.Leu426=) rs45478593 0.00142
NM_002691.4(POLD1):c.2967G>A (p.Thr989=) rs3218752 0.00142
NM_000363.5(TNNI3):c.373-15C>G rs192630178 0.00141
NM_000478.6(ALPL):c.859T>C (p.Leu287=) rs141742288 0.00141
NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=) rs200195310 0.00141
NM_004281.4(BAG3):c.549C>G (p.Ser183=) rs112929734 0.00141
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642 0.00140
NM_020297.4(ABCC9):c.924T>C (p.Asp308=) rs139127928 0.00140
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742 0.00139
NM_016169.4(SUFU):c.910+14C>T rs202247757 0.00139
NM_000548.5(TSC2):c.5260-15C>T rs45517416 0.00138
NM_001110556.2(FLNA):c.942A>G (p.Gly314=) rs200763980 0.00138
NM_001142864.4(PIEZO1):c.3813C>T (p.Asp1271=) rs116683709 0.00138
NM_001148.6(ANK2):c.7902G>A (p.Val2634=) rs150878494 0.00138
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211 0.00137
NM_001999.4(FBN2):c.2555-7A>G rs28763949 0.00137
NM_005188.4(CBL):c.2190G>C (p.Thr730=) rs143840974 0.00137
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_022114.4(PRDM16):c.3687T>C (p.Ala1229=) rs188634763 0.00137
NM_000132.4(F8):c.3236G>A (p.Arg1079Lys) rs143174629 0.00136
NM_001110556.2(FLNA):c.6516G>A (p.Gln2172=) rs199802825 0.00136
NM_005751.5(AKAP9):c.6921A>G (p.Gln2307=) rs141156177 0.00136
NM_020631.6(PLEKHG5):c.260T>C (p.Ile87Thr) rs117505788 0.00136
NM_203288.2(RP9):c.463G>A (p.Val155Ile) rs58377403 0.00136
NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser) rs201168500 0.00135
NM_001999.4(FBN2):c.4595-11G>C rs199640787 0.00135
NM_002691.4(POLD1):c.2007-4G>A rs202035484 0.00135
NM_004999.4(MYO6):c.2517T>C (p.Gly839=) rs112597191 0.00135
NM_014639.4(SKIC3):c.1427C>G (p.Thr476Arg) rs148648401 0.00135
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221 0.00134
NM_001999.4(FBN2):c.8364+7A>T rs185052980 0.00134
NM_004999.4(MYO6):c.1144G>A (p.Asp382Asn) rs111530469 0.00134
NM_017617.5(NOTCH1):c.3511-10G>A rs139838537 0.00134
NM_001276345.2(TNNT2):c.68-3del rs200153031 0.00133
NM_001276345.2(TNNT2):c.68-5C>T rs540630390 0.00133
NM_001355436.2(SPTB):c.1512C>T (p.Asp504=) rs150968094 0.00133
NM_001379610.1(SPINK1):c.75C>T (p.Ser25=) rs35006579 0.00133
NM_004972.4(JAK2):c.2931G>A (p.Leu977=) rs55930140 0.00133
NM_032119.4(ADGRV1):c.3303A>G (p.Val1101=) rs80069610 0.00133
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762 0.00132
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230 0.00131
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_001142864.4(PIEZO1):c.666C>T (p.Val222=) rs541555439 0.00129
NM_001267550.2(TTN):c.1137A>G (p.Arg379=) rs55972547 0.00129
NM_001267550.2(TTN):c.1938+10G>C rs190935632 0.00129
NM_001355436.2(SPTB):c.2562C>T (p.Phe854=) rs12433436 0.00129
NM_004004.6(GJB2):c.608T>C (p.Ile203Thr) rs76838169 0.00129
NM_000138.5(FBN1):c.3463+3A>G rs80344206 0.00128
NM_000371.4(TTR):c.360C>T (p.Ser120=) rs150127220 0.00128
NM_000388.4(CASR):c.1775A>G (p.Asn592Ser) rs117375173 0.00128
NM_001844.5(COL2A1):c.85+10C>G rs769941617 0.00128
NM_004655.4(AXIN2):c.1807G>C (p.Ala603Pro) rs145353986 0.00128
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212 0.00126
NM_000492.4(CFTR):c.3139+18C>T rs147945812 0.00126
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr) rs72466590 0.00126
NM_000346.4(SOX9):c.858C>A (p.Ile286=) rs149355998 0.00125
NM_001267550.2(TTN):c.426C>T (p.Ala142=) rs56137037 0.00125
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=) rs17541165 0.00125
NM_007078.3(LDB3):c.689+10G>A rs45563234 0.00125
NM_024577.4(SH3TC2):c.2322C>T (p.Asp774=) rs17795193 0.00125
NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp) rs139468527 0.00124
NM_001148.6(ANK2):c.7059A>G (p.Gln2353=) rs145782226 0.00124
NM_001267550.2(TTN):c.1398+16C>T rs144043280 0.00124
NM_004006.3(DMD):c.1888A>G (p.Thr630Ala) rs72468692 0.00124
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371 0.00123
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) rs142712751 0.00123
NM_001267550.2(TTN):c.34453+12C>A rs74930148 0.00123
NM_001355436.2(SPTB):c.6399T>C (p.Gly2133=) rs190118021 0.00123
NM_003239.5(TGFB3):c.744C>A (p.Ile248=) rs45477900 0.00123
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730 0.00123
NM_006767.4(LZTR1):c.666C>T (p.Gly222=) rs35767542 0.00122
NM_000493.4(COL10A1):c.154+13G>C rs187987567 0.00121
NM_000493.4(COL10A1):c.382G>A (p.Asp128Asn) rs142463796 0.00121
NM_004208.4(AIFM1):c.1329C>T (p.Tyr443=) rs143792929 0.00121
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe) rs2227988 0.00121
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=) rs45439097 0.00121
NM_001999.4(FBN2):c.255-18C>A rs200300875 0.00120
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=) rs28763920 0.00120
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743 0.00118
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) rs199853721 0.00118
NM_206933.4(USH2A):c.6486-18G>A rs370809079 0.00118
NM_000535.7(PMS2):c.2340C>T (p.Pro780=) rs142230276 0.00117
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
NM_174936.4(PCSK9):c.525C>T (p.Asp175=) rs148612296 0.00117
NM_001005361.3(DNM2):c.1218C>T (p.Asp406=) rs147668465 0.00116
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517 0.00116
NM_001999.4(FBN2):c.4791C>T (p.Ile1597=) rs147040906 0.00115
NM_023110.3(FGFR1):c.449-9C>G rs17182303 0.00115
NM_001267550.2(TTN):c.98499C>T (p.Leu32833=) rs138968178 0.00114
NM_001943.5(DSG2):c.2703A>G (p.Lys901=) rs113591687 0.00114
NM_004333.6(BRAF):c.1433-19A>G rs369635503 0.00114
NM_000089.4(COL1A2):c.582T>G (p.Ala194=) rs144540908 0.00113
NM_000719.7(CACNA1C):c.1074G>A (p.Gln358=) rs139842134 0.00113
NM_001267550.2(TTN):c.33581-18T>C rs148392677 0.00113
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp) rs140640738 0.00113
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His) rs149567378 0.00113
NM_004006.3(DMD):c.1513G>C (p.Val505Leu) rs140340626 0.00113
NM_133379.5(TTN):c.14492G>A (p.Cys4831Tyr) rs150615457 0.00112
NM_001267550.2(TTN):c.13859G>A (p.Gly4620Asp) rs55857742 0.00111
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser) rs184412722 0.00111
NM_001267550.2(TTN):c.89994G>A (p.Ser29998=) rs142891278 0.00111
NM_001370259.2(MEN1):c.30G>T (p.Leu10=) rs371192390 0.00111
NM_001458.5(FLNC):c.4581-5T>A rs368660628 0.00111
NM_001267550.2(TTN):c.49371A>T (p.Leu16457=) rs146163169 0.00110
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr) rs55663050 0.00110
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile) rs145473716 0.00110
NM_000059.4(BRCA2):c.1911T>C (p.Gly637=) rs11571652 0.00109
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=) rs363824 0.00109
NM_000548.5(TSC2):c.4293G>A (p.Ser1431=) rs45487992 0.00109
NM_001267550.2(TTN):c.107700A>G (p.Glu35900=) rs55832587 0.00109
NM_001267550.2(TTN):c.57648C>T (p.Ile19216=) rs55956577 0.00109
NM_002691.4(POLD1):c.33C>T (p.Pro11=) rs3218768 0.00109
NM_004208.4(AIFM1):c.606-15C>T rs191297808 0.00109
NM_000393.5(COL5A2):c.261G>A (p.Thr87=) rs142044596 0.00108
NM_001267550.2(TTN):c.13287T>C (p.Ala4429=) rs370604524 0.00108
NM_001267550.2(TTN):c.16422A>G (p.Gln5474=) rs371026448 0.00108
NM_001267550.2(TTN):c.91565-13C>T rs200847757 0.00108
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr) rs148617456 0.00108
NM_001267550.2(TTN):c.95148C>T (p.Thr31716=) rs140663434 0.00108
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe) rs191484894 0.00108
NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=) rs188357478 0.00108
NM_021625.5(TRPV4):c.1308C>T (p.Ile436=) rs141244183 0.00108
NM_001267550.2(TTN):c.41166C>T (p.Asp13722=) rs143049740 0.00107
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met) rs150661999 0.00107
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His) rs55669553 0.00106
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His) rs149855485 0.00106
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr) rs146181477 0.00106
NM_002474.3(MYH11):c.291C>T (p.Asn97=) rs113363750 0.00106
NM_014874.4(MFN2):c.165C>T (p.Thr55=) rs77458527 0.00106
NM_014874.4(MFN2):c.408A>T (p.Val136=) rs78814413 0.00106
NM_001355436.2(SPTB):c.204G>A (p.Leu68=) rs145077630 0.00105
NM_058216.3(RAD51C):c.195A>G (p.Arg65=) rs45511291 0.00105
NM_000371.4(TTR):c.417G>A (p.Thr139=) rs2276382 0.00104
NM_001042702.5(PJVK):c.86A>G (p.Asp29Gly) rs200502817 0.00104
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met) rs146627500 0.00104
NM_001267550.2(TTN):c.24150C>T (p.Ser8050=) rs185062935 0.00104
NM_001267550.2(TTN):c.29605-12T>C rs143352892 0.00104
NM_001267550.2(TTN):c.30384T>C (p.Asp10128=) rs188584219 0.00104
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr) rs144668626 0.00104
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys) rs56264840 0.00104
NM_000719.7(CACNA1C):c.4956+17G>A rs200706151 0.00103
NM_001267550.2(TTN):c.101406C>G (p.Val33802=) rs55802460 0.00103
NM_001267550.2(TTN):c.106638G>A (p.Arg35546=) rs56324602 0.00103
NM_001267550.2(TTN):c.22692A>T (p.Thr7564=) rs187182557 0.00103
NM_001267550.2(TTN):c.72624A>G (p.Pro24208=) rs56293906 0.00103
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly) rs150430592 0.00103
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu) rs138329459 0.00103
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=) rs147961615 0.00102
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val) rs56347248 0.00102
NM_000088.4(COL1A1):c.2613+14G>A rs41316685 0.00101
NM_000093.5(COL5A1):c.1953C>T (p.Ser651=) rs78215347 0.00101
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131 0.00101
NM_004984.4(KIF5A):c.714+8G>A rs199624091 0.00101
NM_024675.4(PALB2):c.909C>T (p.Leu303=) rs145788619 0.00101
NM_000463.3(UGT1A1):c.996+15T>C rs4148327 0.00099
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=) rs56026369 0.00099
NM_001854.4(COL11A1):c.3925-16C>T rs201491791 0.00099
NM_020433.5(JPH2):c.1971G>A (p.Glu657=) rs142333841 0.00099
NM_024675.4(PALB2):c.2365C>T (p.Leu789=) rs145805054 0.00099
NM_173495.3(PTCHD1):c.1311T>C (p.His437=) rs150186077 0.00099
NM_177438.3(DICER1):c.4014G>A (p.Ala1338=) rs143454689 0.00099
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=) rs200278701 0.00098
NM_002691.4(POLD1):c.1620C>T (p.Gly540=) rs140216790 0.00098
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_021939.4(FKBP10):c.1363A>G (p.Ile455Val) rs146701946 0.00098
NM_000038.6(APC):c.5790A>G (p.Gln1930=) rs141152252 0.00097
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655 0.00097
NM_000142.5(FGFR3):c.193G>A (p.Gly65Arg) rs2305178 0.00097
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=) rs143011005 0.00097
NM_000458.4(HNF1B):c.1045+12T>C rs141166864 0.00097
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_000548.5(TSC2):c.262C>T (p.Leu88=) rs45485999 0.00096
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val) rs185341934 0.00096
NM_001999.4(FBN2):c.3273T>C (p.Asn1091=) rs116741030 0.00096
NM_002439.5(MSH3):c.1453+15T>C rs200717987 0.00096
NM_002890.3(RASA1):c.2528C>A (p.Thr843Asn) rs184201084 0.00096
NM_005529.7(HSPG2):c.12072C>T (p.Asp4024=) rs146167897 0.00096
NM_022124.6(CDH23):c.510C>T (p.Ser170=) rs143341423 0.00096
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00095
NM_001103.4(ACTN2):c.1657-16T>C rs148194175 0.00095
NM_002471.4(MYH6):c.3303G>A (p.Val1101=) rs143825034 0.00095
NM_005188.4(CBL):c.1227+20dup rs530081144 0.00095
NM_007078.3(LDB3):c.993G>A (p.Ala331=) rs140347820 0.00095
NM_022489.4(INF2):c.507+7G>A rs201568246 0.00095
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser) rs548525119 0.00094
NM_000548.5(TSC2):c.5161-9C>T rs45515893 0.00094
NM_001267550.2(TTN):c.80322C>T (p.Ala26774=) rs55892928 0.00094
NM_000193.4(SHH):c.876G>A (p.Gly292=) rs112055654 0.00093
NM_000719.7(CACNA1C):c.3049-10C>T rs186741807 0.00093
NM_001355436.2(SPTB):c.5277C>T (p.Asp1759=) rs73273601 0.00093
NM_001360016.2(G6PD):c.1458-13C>G rs371772243 0.00093
NM_002474.3(MYH11):c.4774A>C (p.Arg1592=) rs114556043 0.00093
NM_006070.6(TFG):c.258G>T (p.Leu86=) rs150620449 0.00093
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) rs61751553 0.00093
NM_000038.6(APC):c.8043G>C (p.Pro2681=) rs149347068 0.00092
NM_000311.5(PRNP):c.655G>A (p.Glu219Lys) rs1800014 0.00092
NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=) rs147318592 0.00092
NM_001365951.3(KIF1B):c.3885A>C (p.Thr1295=) rs139159572 0.00092
NM_023110.3(FGFR1):c.1081+20C>T rs17175982 0.00092
NM_000435.3(NOTCH3):c.660C>T (p.Tyr220=) rs114457076 0.00091
NM_001114753.3(ENG):c.225G>A (p.Pro75=) rs116146060 0.00091
NM_014000.3(VCL):c.660C>T (p.Asn220=) rs56264452 0.00091
NM_018979.4(WNK1):c.446C>T (p.Ala149Val) rs34880640 0.00091
NM_020631.6(PLEKHG5):c.918C>T (p.Asp306=) rs111624565 0.00091
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428 0.00089
NM_001243133.2(NLRP3):c.789C>T (p.Ser263=) rs146442638 0.00089
NM_001267550.2(TTN):c.15906C>T (p.Val5302=) rs375179152 0.00089
NM_014874.4(MFN2):c.150C>A (p.Ile50=) rs78841746 0.00089
NM_020779.4(WDR35):c.2149A>G (p.Ile717Val) rs144493712 0.00089
NM_001142864.4(PIEZO1):c.1251C>T (p.His417=) rs183684596 0.00088
NM_001267550.2(TTN):c.18531G>C (p.Val6177=) rs370684491 0.00088
NM_002473.6(MYH9):c.4727G>A (p.Arg1576Gln) rs143269195 0.00088
NM_002691.4(POLD1):c.2628C>T (p.Ile876=) rs75874199 0.00088
NM_002880.4(RAF1):c.1830A>G (p.Gln610=) rs141791080 0.00088
NM_024334.3(TMEM43):c.163-6T>A rs372434224 0.00088
NM_000169.3(GLA):c.639+18G>A rs189319122 0.00087
NM_000520.6(HEXA):c.1527-6T>C rs199914308 0.00087
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622 0.00087
NM_020822.3(KCNT1):c.2994G>A (p.Leu998=) rs143198263 0.00087
NM_014000.3(VCL):c.1572C>T (p.Ala524=) rs138566234 0.00086
NM_014845.6(FIG4):c.1584-8T>A rs199522051 0.00086
NM_000548.5(TSC2):c.1860G>A (p.Leu620=) rs45492397 0.00084
NM_000071.3(CBS):c.1257G>A (p.Leu419=) rs138432416 0.00083
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783 0.00083
NM_000142.5(FGFR3):c.1349C>T (p.Thr450Met) rs56240927 0.00083
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=) rs147623093 0.00083
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286 0.00083
NM_000548.5(TSC2):c.2979G>A (p.Thr993=) rs45517277 0.00083
NM_000548.5(TSC2):c.856A>G (p.Met286Val) rs1800748 0.00083
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=) rs147955381 0.00083
NM_004990.4(MARS1):c.1812G>A (p.Gly604=) rs117633211 0.00083
NM_004990.4(MARS1):c.477C>T (p.Pro159=) rs117101415 0.00083
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00082
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=) rs45486193 0.00082
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile) rs72649002 0.00082
NM_003978.5(PSTPIP1):c.1134G>A (p.Leu378=) rs529402949 0.00082
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_000545.8(HNF1A):c.1107+9C>G rs17847497 0.00081
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=) rs61753012 0.00081
NM_005548.3(KARS1):c.612A>G (p.Thr204=) rs141539149 0.00081
NM_000132.4(F8):c.2453C>T (p.Thr818Ile) rs142274278 0.00080
NM_000316.3(PTH1R):c.1305G>A (p.Thr435=) rs142921504 0.00080
NM_000815.5(GABRD):c.658C>T (p.Arg220Cys) rs139300921 0.00080
NM_002471.4(MYH6):c.735+16C>T rs76202841 0.00080
NM_015978.3(TNNI3K):c.827+11T>C rs148757567 0.00080
NM_023110.3(FGFR1):c.1098G>A (p.Pro366=) rs56174879 0.00079
NM_032043.3(BRIP1):c.2257+19A>C rs77851913 0.00079
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407 0.00078
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_032043.3(BRIP1):c.918+15T>A rs117820198 0.00078
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His) rs62636285 0.00078
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val) rs28763971 0.00077
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=) rs111033525 0.00077
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429 0.00076
NM_000371.4(TTR):c.*3_*11del rs143948820 0.00076
NM_001114753.3(ENG):c.234G>A (p.Leu78=) rs115675061 0.00076
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=) rs146662880 0.00076
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=) rs144807538 0.00076
NM_005188.4(CBL):c.2036+9G>T rs142704935 0.00076
NM_018706.7(DHTKD1):c.1550C>T (p.Ala517Val) rs142006153 0.00076
NM_174936.4(PCSK9):c.1851C>T (p.Ala617=) rs140364657 0.00076
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_058216.3(RAD51C):c.146-8A>G rs201079501 0.00074
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 0.00073
NM_018979.4(WNK1):c.4983T>C (p.Ser1661=) rs149852592 0.00072
NM_000093.5(COL5A1):c.1998C>T (p.Asp666=) rs143858735 0.00071
NM_001035.3(RYR2):c.3030T>C (p.Asp1010=) rs138064129 0.00071
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=) rs200048692 0.00071
NM_001145809.2(MYH14):c.394G>A (p.Gly132Ser) rs199910006 0.00071
NM_001267550.2(TTN):c.44529C>T (p.His14843=) rs55973744 0.00071
NM_004006.3(DMD):c.5476G>C (p.Glu1826Gln) rs140913030 0.00071
NM_000132.4(F8):c.102C>T (p.Asp34=) rs1800283 0.00070
NM_001753.5(CAV1):c.30+20C>T rs34592877 0.00070
NM_153676.4(USH1C):c.1740T>C (p.Pro580=) rs200085788 0.00070
NM_177438.3(DICER1):c.924C>T (p.Ala308=) rs142397473 0.00070
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) rs56102764 0.00069
NM_005413.4(SIX3):c.348C>T (p.Pro116=) rs573768953 0.00069
NM_000071.3(CBS):c.636C>T (p.Asn212=) rs2298758 0.00068
NM_001103.4(ACTN2):c.877-6G>A rs397516585 0.00068
NM_000551.4(VHL):c.183C>G (p.Pro61=) rs63650860 0.00067
NM_001024630.4(RUNX2):c.549C>T (p.Asn183=) rs115974315 0.00067
NM_001276345.2(TNNT2):c.98-81G>A rs45576939 0.00067
NM_001605.3(AARS1):c.1044G>C (p.Thr348=) rs181264712 0.00067
NM_002872.5(RAC2):c.501C>T (p.Thr167=) rs79799102 0.00067
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu) rs62637015 0.00067
NM_001103.4(ACTN2):c.2649G>A (p.Ala883=) rs146426213 0.00066
NM_001375808.2(LPIN2):c.1815G>A (p.Ser605=) rs143702044 0.00066
NM_002769.5(PRSS1):c.40+10A>G rs199613498 0.00066
NM_003680.4(YARS1):c.1015G>A (p.Ala339Thr) rs141323599 0.00066
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740 0.00066
NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=) rs200835571 0.00065
NM_002109.6(HARS1):c.234C>T (p.Asp78=) rs142994969 0.00065
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_007294.4(BRCA1):c.4840C>T (p.Pro1614Ser) rs70953660 0.00065
NM_007294.4(BRCA1):c.981A>G (p.Thr327=) rs1800063 0.00065
NM_000335.5(SCN5A):c.630G>A (p.Val210=) rs193922727 0.00064
NM_000435.3(NOTCH3):c.3327+24G>C rs202014036 0.00064
NM_006579.3(EBP):c.511C>T (p.Arg171Cys) rs141925556 0.00064
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=) rs28897693 0.00064
NM_000020.3(ACVRL1):c.207C>T (p.Cys69=) rs56080682 0.00063
NM_001035.3(RYR2):c.615C>T (p.Ala205=) rs112680790 0.00063
NM_001999.4(FBN2):c.7841-16G>T rs201231807 0.00063
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=) rs146819206 0.00063
NM_000249.4(MLH1):c.375A>G (p.Ala125=) rs1800144 0.00062
NM_001355436.2(SPTB):c.4474-17C>T rs192115079 0.00061
NM_002473.6(MYH9):c.4344+10C>T rs200977419 0.00061
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=) rs142459158 0.00061
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716 0.00060
NM_001110556.2(FLNA):c.3876C>T (p.His1292=) rs199917719 0.00060
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_001031834.1(RAB40AL):c.279C>T (p.Val93=) rs201052380 0.00059
NM_001042492.3(NF1):c.7410T>C (p.Asn2470=) rs17881903 0.00059
NM_007294.4(BRCA1):c.4691T>C (p.Leu1564Pro) rs56119278 0.00059
NM_014874.4(MFN2):c.1495+9C>T rs375494746 0.00059
NM_000492.4(CFTR):c.3717+45G>A rs145743767 0.00058
NM_000552.5(VWF):c.1329C>T (p.Ser443=) rs142404899 0.00058
NM_001037.5(SCN1B):c.412G>A (p.Val138Ile) rs72558029 0.00058
NM_001142864.4(PIEZO1):c.4955+8C>T rs533263001 0.00058
NM_001110556.2(FLNA):c.7756+8A>G rs201663443 0.00057
NM_002474.3(MYH11):c.4203C>T (p.Ile1401=) rs760611400 0.00057
NM_004360.5(CDH1):c.2439+10C>T rs35236080 0.00057
NM_000492.4(CFTR):c.2245C>T (p.Leu749=) rs151235408 0.00056
NM_000518.4(HBB):c.*138T>G rs560643693 0.00056
NM_001110556.2(FLNA):c.3915G>A (p.Thr1305=) rs201488545 0.00056
NM_020975.6(RET):c.833C>A (p.Thr278Asn) rs35118262 0.00056
NM_016203.4(PRKAG2):c.1106+9G>C rs200429988 0.00055
NM_080680.3(COL11A2):c.4884G>C (p.Glu1628Asp) rs2229790 0.00055
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716 0.00054
NM_000238.4(KCNH2):c.3153-18C>T rs201337201 0.00054
NM_001110556.2(FLNA):c.3597G>A (p.Ser1199=) rs200258756 0.00054
NM_005751.5(AKAP9):c.10845G>A (p.Lys3615=) rs138739292 0.00054
NM_000436.4(OXCT1):c.173C>T (p.Thr58Met) rs75134564 0.00053
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_017617.5(NOTCH1):c.3249C>T (p.Cys1083=) rs139994842 0.00053
NM_000142.5(FGFR3):c.2088C>T (p.Pro696=) rs142884145 0.00052
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=) rs149924365 0.00052
NM_001365951.3(KIF1B):c.2874C>T (p.Asp958=) rs150831576 0.00052
NM_002471.4(MYH6):c.3903G>A (p.Ser1301=) rs201804323 0.00052
NM_000435.3(NOTCH3):c.1952-32T>G rs137877808 0.00051
NM_000548.5(TSC2):c.975+13C>T rs200564575 0.00051
NM_001355436.2(SPTB):c.6174G>A (p.Thr2058=) rs146561732 0.00051
NM_001379610.1(SPINK1):c.-22C>T rs190219062 0.00051
NM_001844.5(COL2A1):c.1176C>T (p.Arg392=) rs201575114 0.00051
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser) rs138607412 0.00051
NM_201253.3(CRB1):c.1533C>T (p.Ala511=) rs142224492 0.00051
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys) rs200038092 0.00051
NM_000090.4(COL3A1):c.3777T>C (p.Ala1259=) rs34781844 0.00050
NM_001267550.2(TTN):c.65604T>C (p.Ala21868=) rs200825430 0.00050
NM_003239.5(TGFB3):c.517-16T>C rs3917176 0.00050
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744 0.00048
NM_001035.3(RYR2):c.10231-4T>C rs117180147 0.00048
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His) rs201512527 0.00048
NM_003482.4(KMT2D):c.16599G>A (p.Arg5533=) rs199798179 0.00048
NM_005188.4(CBL):c.1227+4C>T rs201747825 0.00048
NM_174936.4(PCSK9):c.1491C>T (p.Gly497=) rs147599496 0.00048
NM_001267550.2(TTN):c.54189T>C (p.Tyr18063=) rs2303834 0.00047
NM_002834.5(PTPN11):c.1379+20C>T rs184743462 0.00047
NM_000162.5(GCK):c.46-5598A>T rs13306393 0.00046
NM_001114753.3(ENG):c.1455G>A (p.Glu485=) rs150456852 0.00046
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His) rs80356892 0.00046
NM_000138.5(FBN1):c.5296+14G>A rs140650 0.00045
NM_001753.5(CAV1):c.246C>T (p.Asp82=) rs35242077 0.00045
NM_004360.5(CDH1):c.1744C>T (p.Leu582=) rs1801025 0.00045
NM_000095.3(COMP):c.360C>T (p.Gly120=) rs150820366 0.00044
NM_000138.5(FBN1):c.7098C>T (p.Asp2366=) rs1005074 0.00044
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu) rs79777494 0.00044
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp) rs75321043 0.00044
NM_004006.3(DMD):c.5586+9G>A rs200025478 0.00044
NM_005529.7(HSPG2):c.5702-13G>A rs141464854 0.00044
NM_024334.3(TMEM43):c.279C>T (p.Gly93=) rs149883381 0.00044
NM_175914.5(HNF4A):c.138G>A (p.Thr46=) rs145845882 0.00043
NM_000459.5(TEK):c.1869G>A (p.Gly623=) rs55979986 0.00042
NM_000548.5(TSC2):c.3610+9C>T rs45467194 0.00042
NM_004239.4(TRIP11):c.4139C>T (p.Thr1380Ile) rs117748213 0.00042
NM_000548.5(TSC2):c.138+20C>G rs45517092 0.00041
NM_001110792.2(MECP2):c.870C>T (p.Ala290=) rs61750248 0.00041
NM_001395413.1(POR):c.1227C>T (p.Ser409=) rs41301424 0.00041
NM_000059.4(BRCA2):c.6842-20T>A rs81002811 0.00040
NM_000095.3(COMP):c.1668+20G>T rs145290786 0.00040
NM_000298.6(PKLR):c.1686C>T (p.Ser562=) rs140859641 0.00040
NM_001034853.2(RPGR):c.154+14T>C rs200069705 0.00040
NM_001204.7(BMPR2):c.63C>T (p.Val21=) rs149973695 0.00040
NM_001009944.3(PKD1):c.6606G>A (p.Ala2202=) rs367600795 0.00039
NM_001384140.1(PCDH15):c.3451G>A (p.Gly1151Arg) rs149478475 0.00039
NM_003242.6(TGFBR2):c.94+16202A>G rs375610471 0.00039
NM_004006.3(DMD):c.6828C>T (p.Pro2276=) rs72466595 0.00039
NM_020975.6(RET):c.2037C>T (p.Pro679=) rs55862116 0.00039
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112 0.00038
NM_001032283.3(TMPO):c.565+1105C>T rs138790561 0.00038
NM_017617.5(NOTCH1):c.2646A>T (p.Ala882=) rs61751550 0.00038
NM_002296.4(LBR):c.927C>T (p.Ile309=) rs143164834 0.00037
NM_000492.4(CFTR):c.1920T>C (p.Phe640=) rs145877746 0.00036
NM_001009944.3(PKD1):c.3495C>T (p.Asp1165=) rs375384742 0.00036
NM_004281.3(BAG3):c.772C>T (p.Arg258Trp) rs117671123 0.00036
NM_000071.3(CBS):c.1223+13G>A rs533660793 0.00035
NM_000243.3(MEFV):c.372C>T (p.Pro124=) rs104895078 0.00035
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365 0.00034
NM_001110792.2(MECP2):c.978C>T (p.Ile326=) rs61751446 0.00034
NM_001267550.2(TTN):c.55449C>T (p.Pro18483=) rs187366691 0.00034
NM_001355436.2(SPTB):c.96T>C (p.Asn32=) rs141340359 0.00034
NM_001999.4(FBN2):c.6666G>A (p.Pro2222=) rs192923239 0.00034
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_017668.3(NDE1):c.948-2788A>G rs118072250 0.00034
NM_024675.4(PALB2):c.2834+15A>G rs149791114 0.00034
NM_001999.4(FBN2):c.4983C>T (p.Cys1661=) rs143907156 0.00033
NM_014000.3(VCL):c.492T>G (p.Leu164=) rs143702799 0.00033
NM_000088.4(COL1A1):c.588+16G>A rs191715075 0.00032
NM_001042492.3(NF1):c.1933A>G (p.Met645Val) rs146051850 0.00032
NM_002880.4(RAF1):c.321-14T>A rs3730270 0.00032
NM_053025.4(MYLK):c.5448C>T (p.Arg1816=) rs56262958 0.00032
NM_001148.6(ANK2):c.7488A>G (p.Thr2496=) rs143161930 0.00031
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_014000.3(VCL):c.1626C>T (p.Leu542=) rs150402791 0.00031
NM_020297.4(ABCC9):c.3339T>G (p.Ser1113=) rs138280089 0.00031
NM_020975.6(RET):c.1050C>T (p.Thr350=) rs142188675 0.00031
NM_001110556.2(FLNA):c.861C>T (p.Tyr287=) rs375503410 0.00030
NM_001142864.4(PIEZO1):c.2889C>G (p.Ala963=) rs533382499 0.00030
NM_000088.4(COL1A1):c.1983+9G>C rs201091992 0.00029
NM_000238.4(KCNH2):c.3063C>T (p.Ser1021=) rs199767579 0.00029
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) rs200053635 0.00029
NM_002471.4(MYH6):c.4293G>A (p.Met1431Ile) rs201016285 0.00029
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00029
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_000047.3(ARSL):c.220G>A (p.Val74Met) rs150756612 0.00028
NM_000059.4(BRCA2):c.425+33A>G rs200065709 0.00028
NM_000297.4(PKD2):c.1546G>T (p.Val516Leu) rs143581690 0.00028
NM_001128228.3(TPRN):c.1094A>G (p.Gln365Arg) rs780953179 0.00028
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr) rs142822590 0.00028
NM_007294.4(BRCA1):c.548-17G>T rs80358014 0.00028
NM_000435.3(NOTCH3):c.3838-27C>T rs549483448 0.00027
NM_000719.7(CACNA1C):c.846C>T (p.Tyr282=) rs200847105 0.00027
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu) rs28897688 0.00027
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_000059.4(BRCA2):c.4686A>G (p.Gln1562=) rs28897730 0.00026
NM_000059.4(BRCA2):c.516+14C>T rs182828913 0.00026
NM_000088.4(COL1A1):c.2115C>T (p.Asn705=) rs41316673 0.00026
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501 0.00026
NM_001103.4(ACTN2):c.1406+8C>T rs397516567 0.00026
NM_001127222.2(CACNA1A):c.1905C>T (p.Phe635=) rs115452236 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_015512.5(DNAH1):c.12626A>G (p.Gln4209Arg) rs202094249 0.00026
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His) rs76784312 0.00025
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802 0.00025
NM_000546.6(TP53):c.704A>G (p.Asn235Ser) rs144340710 0.00025
NM_004333.6(BRAF):c.64G>A (p.Asp22Asn) rs397507456 0.00025
NM_000089.4(COL1A2):c.945C>T (p.Pro315=) rs147058179 0.00024
NM_003680.4(YARS1):c.60G>A (p.Glu20=) rs143712443 0.00024
NM_005529.7(HSPG2):c.468G>A (p.Ala156=) rs113464689 0.00024
NM_007294.4(BRCA1):c.4358-10C>T rs80358111 0.00024
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_000179.3(MSH6):c.3438+11_3438+14del rs377746844 0.00023
NM_000719.7(CACNA1C):c.5478G>A (p.Ala1826=) rs200283756 0.00023
NM_003239.5(TGFB3):c.647-12C>G rs61762490 0.00023
NM_004006.3(DMD):c.2386G>A (p.Val796Ile) rs139726281 0.00023
NM_000052.7(ATP7A):c.177A>G (p.Pro59=) rs142463642 0.00022
NM_000243.3(MEFV):c.1760-28T>A rs104895169 0.00022
NM_001999.4(FBN2):c.6840G>T (p.Pro2280=) rs377742525 0.00022
NM_017668.3(NDE1):c.948-3127C>T rs181115969 0.00022
NM_000047.3(ARSL):c.102C>T (p.Ser34=) rs151070930 0.00021
NM_004006.3(DMD):c.5163G>C (p.Lys1721Asn) rs72468630 0.00021
NM_006005.3(WFS1):c.2012C>T (p.Ala671Val) rs71530907 0.00021
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile) rs80357090 0.00021
NM_177438.3(DICER1):c.5364+20A>T rs150893725 0.00021
NM_000059.4(BRCA2):c.5710C>G (p.Leu1904Val) rs55875643 0.00020
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=) rs202133782 0.00020
NM_053025.4(MYLK):c.3525C>T (p.Asp1175=) rs147735490 0.00020
NM_000219.6(KCNE1):c.112A>G (p.Ser38Gly) rs1805127 0.00019
NM_001267550.2(TTN):c.14424G>C (p.Val4808=) rs374479775 0.00019
NM_002691.4(POLD1):c.2955G>T (p.Arg985=) rs770495723 0.00019
NM_003072.5(SMARCA4):c.4170+16G>A rs191812860 0.00019
NM_007294.4(BRCA1):c.4484+14A>G rs80358022 0.00019
NM_022051.3(EGLN1):c.924G>A (p.Thr308=) rs201523464 0.00019
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val) rs11571653 0.00018
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325 0.00018
NM_001148.6(ANK2):c.6633C>T (p.Ala2211=) rs143516811 0.00018
NM_001355436.2(SPTB):c.6846C>T (p.Gly2282=) rs200228159 0.00018
NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu) rs754765424 0.00018
NM_000112.4(SLC26A2):c.1410A>G (p.Val470=) rs115777661 0.00017
NM_000548.5(TSC2):c.4493+18G>A rs45454201 0.00017
NM_001379610.1(SPINK1):c.87+26T>C rs200296519 0.00017
NM_001457.4(FLNB):c.5785G>A (p.Asp1929Asn) rs146685642 0.00017
NM_007078.3(LDB3):c.1335C>T (p.Tyr445=) rs587781024 0.00017
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686 0.00017
NM_000059.4(BRCA2):c.3417G>A (p.Lys1139=) rs145625991 0.00016
NM_000243.3(MEFV):c.297C>T (p.Asn99=) rs104895175 0.00016
NM_000492.4(CFTR):c.-4G>C rs369326781 0.00016
NM_001009944.3(PKD1):c.12075G>A (p.Glu4025=) rs754786423 0.00016
NM_002230.4(JUP):c.527G>A (p.Arg176Gln) rs144171604 0.00016
NM_002880.4(RAF1):c.119G>A (p.Arg40His) rs192632236 0.00016
NM_003072.5(SMARCA4):c.2860-14T>C rs191509662 0.00016
NM_004985.5(KRAS):c.198A>G (p.Ala66=) rs200229810 0.00016
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00016
NM_053025.4(MYLK):c.3075C>T (p.Pro1025=) rs144885184 0.00016
NM_144997.7(FLCN):c.1278C>T (p.Ile426=) rs41459448 0.00016
NM_000052.7(ATP7A):c.1737A>G (p.Val579=) rs189353691 0.00015
NM_000243.3(MEFV):c.1261-28A>G rs104895140 0.00015
NM_001110792.2(MECP2):c.1362C>T (p.Thr454=) rs61751363 0.00015
NM_000435.3(NOTCH3):c.499C>T (p.Pro167Ser) rs202157633 0.00014
NM_001148.6(ANK2):c.2249A>G (p.Gln750Arg) rs371787039 0.00014
NM_001844.5(COL2A1):c.246C>T (p.Phe82=) rs142161948 0.00014
NM_002437.5(MPV17):c.444G>A (p.Leu148=) rs776964645 0.00014
NM_003242.6(TGFBR2):c.1254+16T>C rs45515293 0.00014
NM_053025.4(MYLK):c.3448+15G>A rs199789942 0.00014
NM_000047.3(ARSL):c.1386C>T (p.His462=) rs183018622 0.00013
NM_001243133.2(NLRP3):c.2364C>A (p.Ile788=) rs766840708 0.00013
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln) rs200944827 0.00013
NM_001267550.2(TTN):c.72906T>A (p.Ala24302=) rs773886758 0.00013
NM_001267550.2(TTN):c.86658G>A (p.Glu28886=) rs760858743 0.00013
NM_002661.5(PLCG2):c.1383A>G (p.Arg461=) rs369098550 0.00013
NM_003239.5(TGFB3):c.88T>C (p.Leu30=) rs3917145 0.00013
NM_213599.3(ANO5):c.2256G>A (p.Thr752=) rs144048656 0.00013
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val) rs55638633 0.00012
NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys) rs200231105 0.00012
NM_002890.3(RASA1):c.1332+8T>C rs376637789 0.00012
NM_000051.4(ATM):c.6348-8T>C rs730881292 0.00011
NM_000268.4(NF2):c.999+15G>A rs367716680 0.00011
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala) rs56195342 0.00011
NM_001009944.3(PKD1):c.5022G>A (p.Pro1674=) rs772143717 0.00010
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=) rs11571654 0.00009
NM_000059.4(BRCA2):c.516+18T>C rs81002834 0.00009
NM_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser) rs80358768 0.00009
NM_000257.4(MYH7):c.327C>T (p.Tyr109=) rs36211408 0.00009
NM_000257.4(MYH7):c.5361A>G (p.Glu1787=) rs201171029 0.00009
NM_001009944.3(PKD1):c.4053G>T (p.Arg1351=) rs371149993 0.00009
NM_001376.5(DYNC1H1):c.7152C>T (p.Ser2384=) rs376471830 0.00009
NM_001844.5(COL2A1):c.2464-19A>C rs200042189 0.00009
NM_002890.3(RASA1):c.64G>T (p.Gly22Cys) rs371413736 0.00009
NM_007294.4(BRCA1):c.314A>G (p.Tyr105Cys) rs28897673 0.00009
NM_022051.3(EGLN1):c.843C>T (p.Arg281=) rs143108243 0.00009
NM_000059.4(BRCA2):c.3420T>C (p.Ser1140=) rs118093942 0.00008
NM_000093.5(COL5A1):c.1495-11C>A rs199501759 0.00008
NM_000342.4(SLC4A1):c.1800+12C>T rs556266412 0.00008
NM_001142864.4(PIEZO1):c.6471+3G>A rs771317251 0.00008
NM_000179.3(MSH6):c.2314C>A (p.Arg772=) rs63750138 0.00007
NM_001243133.2(NLRP3):c.1044G>A (p.Thr348=) rs143140947 0.00007
NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu) rs144574441 0.00007
NM_000059.4(BRCA2):c.1362A>G (p.Lys454=) rs55919657 0.00006
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp) rs80358451 0.00006
NM_000350.3(ABCA4):c.2646C>T (p.Gly882=) rs180921875 0.00006
NM_001130823.3(DNMT1):c.1722G>A (p.Val574=) rs140376680 0.00006
NM_001458.5(FLNC):c.4927+15G>A rs200013064 0.00006
NM_002296.4(LBR):c.959A>G (p.His320Arg) rs201654506 0.00006
NM_002890.3(RASA1):c.3132T>C (p.Asn1044=) rs149297860 0.00006
NM_005188.4(CBL):c.2252-8T>C rs555179188 0.00006
NM_005343.4(HRAS):c.369C>T (p.Arg123=) rs200945755 0.00006
NM_007294.4(BRCA1):c.1392C>T (p.Thr464=) rs533802049 0.00006
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn) rs28897691 0.00006
NM_007294.4(BRCA1):c.946A>G (p.Ser316Gly) rs55874646 0.00006
NM_000059.4(BRCA2):c.9592T>C (p.Cys3198Arg) rs80359229 0.00005
NM_000492.4(CFTR):c.3469-20T>C rs373002889 0.00005
NM_001145809.2(MYH14):c.3537C>T (p.Ala1179=) rs559356437 0.00005
NM_001148.6(ANK2):c.813T>C (p.His271=) rs774848857 0.00005
NM_000059.4(BRCA2):c.4898T>C (p.Ile1633Thr) rs80358714 0.00004
NM_000535.7(PMS2):c.*17G>C rs556089649 0.00004
NM_001142864.4(PIEZO1):c.765C>T (p.Phe255=) rs767600698 0.00004
NM_001267550.2(TTN):c.24227-15C>T rs397517505 0.00004
NM_001267550.2(TTN):c.70998A>G (p.Thr23666=) rs767989384 0.00004
NM_001365951.3(KIF1B):c.2245T>C (p.Trp749Arg) rs551543997 0.00004
NM_001376.5(DYNC1H1):c.3961-14A>G rs558548356 0.00004
NM_004006.3(DMD):c.3217G>A (p.Glu1073Lys) rs398123931 0.00004
NM_004360.5(CDH1):c.1224G>A (p.Ala408=) rs200161607 0.00004
NM_005379.4(MYO1A):c.103_105del (p.Lys35del) rs759028720 0.00004
NM_005422.4(TECTA):c.6428C>T (p.Ser2143Leu) rs538443920 0.00004
NM_007294.4(BRCA1):c.75C>T (p.Pro25=) rs80356839 0.00004
NM_032043.3(BRIP1):c.297C>T (p.Asp99=) rs201617644 0.00004
NM_000243.3(MEFV):c.195C>T (p.Tyr65=) rs104895077 0.00003
NM_000518.5(HBB):c.50G>A (p.Gly17Asp) rs33962676 0.00003
NM_000535.7(PMS2):c.2174+1105C>T rs2215326 0.00003
NM_001009944.3(PKD1):c.5469G>A (p.Val1823=) rs756513436 0.00003
NM_001142864.4(PIEZO1):c.4674C>T (p.Gly1558=) rs764192930 0.00003
NM_001142864.4(PIEZO1):c.6471+9G>A rs761913079 0.00003
NM_004006.3(DMD):c.3419A>G (p.His1140Arg) rs201297190 0.00003
NM_005379.4(MYO1A):c.2513C>T (p.Pro838Leu) rs765830662 0.00003
NM_017780.4(CHD7):c.6771C>T (p.Pro2257=) rs367615733 0.00003
NM_000059.4(BRCA2):c.4779A>C (p.Glu1593Asp) rs80358703 0.00002
NM_000059.4(BRCA2):c.7317A>G (p.Gly2439=) rs587780660 0.00002
NM_000059.4(BRCA2):c.794-11T>C rs81002822 0.00002
NM_001204.7(BMPR2):c.9C>A (p.Ser3=) rs549281044 0.00002
NM_002180.3(IGHMBP2):c.2979G>A (p.Thr993=) rs201760315 0.00002
NM_004082.5(DCTN1):c.3519C>T (p.Arg1173=) rs146094433 0.00002
NM_005802.5(TOPORS):c.1365G>A (p.Thr455=) rs780866628 0.00002
NM_007294.4(BRCA1):c.4097-11T>C rs80358072 0.00002
NM_007294.4(BRCA1):c.5153-6C>A rs80358129 0.00002
NM_000059.4(BRCA2):c.2817C>T (p.Thr939=) rs367921107 0.00001
NM_000138.5(FBN1):c.75G>A (p.Ala25=) rs543230518 0.00001
NM_000297.4(PKD2):c.2295T>C (p.Asp765=) rs138982773 0.00001
NM_000314.8(PTEN):c.78C>T (p.Thr26=) rs786201280 0.00001
NM_000518.5(HBB):c.316-82G>A rs944935116 0.00001
NM_001009944.3(PKD1):c.10687C>T (p.Leu3563=) rs770693846 0.00001
NM_001130823.3(DNMT1):c.4860C>T (p.Ala1620=) rs576877219 0.00001
NM_001498.4(GCLC):c.1632C>T (p.Asn544=) rs913611013 0.00001
NM_001999.4(FBN2):c.4690T>C (p.Leu1564=) rs886038504 0.00001
NM_005251.3(FOXC2):c.624G>A (p.Glu208=) rs372749779 0.00001
NC_000008.11:g.89984913_89984916del rs36226237
NC_000012.12:g.6125082T>G
NC_000012.12:g.6125524A>C
NC_000012.12:g.6125683C>T
NC_000015.10:g.43221127A>T rs960299445
NM_000018.4(ACADVL):c.693T>A (p.Ser231=) rs77763289
NM_000038.6(APC):c.-18-13T>G rs1554067089
NM_000038.6(APC):c.1512T>C (p.Ala504=) rs1561554267
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del) rs386833391
NM_000044.6(AR):c.171GCA[29] (p.Gln75_Gln80dup) rs3032358
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu) rs3218695
NM_000051.4(ATM):c.3285-9del rs1799757
NM_000051.4(ATM):c.3403-13dup rs3218681
NM_000051.4(ATM):c.5948= (p.Ser1983=) rs659243
NM_000053.4(ATP7B):c.-396C>G rs145371060
NM_000059.4(BRCA2):c.1909+22dup rs276174816
NM_000059.4(BRCA2):c.1909+9_1909+10del rs527732001
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.4(BRCA2):c.6513G>C (p.Val2171=) rs206076
NM_000059.4(BRCA2):c.7242A>G (p.Ser2414=) rs1799955
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000069.3(CACNA1S):c.1371_1373delinsGCA (p.Leu458His)
NM_000069.3(CACNA1S):c.152+17G>C rs113558244
NM_000069.3(CACNA1S):c.2454G>A (p.Ala818=) rs141619541
NM_000069.3(CACNA1S):c.3261A>G (p.Gln1087=) rs34515088
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp) rs35534614
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
NM_000088.4(COL1A1):c.1300-8C>G rs41317361
NM_000088.4(COL1A1):c.1300-8C>T rs41317361
NM_000088.4(COL1A1):c.3046-20CT[10] rs138425306
NM_000088.4(COL1A1):c.3046-20CT[7] rs138425306
NM_000089.4(COL1A2):c.3135C>T (p.Gly1045=) rs1800248
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.4(COL3A1):c.2002C>T (p.Pro668Ser) rs1801183
NM_000091.5(COL4A3):c.127G>C (p.Gly43Arg) rs13424243
NM_000092.5(COL4A4):c.736-4del rs750699545
NM_000093.5(COL5A1):c.1191G>T (p.Ala397=) rs199755089
NM_000093.5(COL5A1):c.2592+16C>G rs145429817
NM_000093.5(COL5A1):c.2800-18C>A rs73664144
NM_000095.3(COMP):c.1668+13T>A rs74432818
NM_000095.3(COMP):c.1668+13T>G rs74432818
NM_000095.3(COMP):c.218-14C>T rs150008764
NM_000132.4(F8):c.3780C>G (p.Asp1260Glu) rs1800291
NM_000138.5(FBN1):c.-35C>T rs199781948
NM_000138.5(FBN1):c.5066-14dup rs3833018
NM_000138.5(FBN1):c.5672-3T>C rs193922217
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.5(FBN1):c.737-25CT[2] rs72041020
NM_000142.5(FGFR3):c.110-67C>T
NM_000142.5(FGFR3):c.1647G>T (p.Gly549=) rs3135897
NM_000143.4(FH):c.1237-50TC[24] rs144131869
NM_000169.3(GLA):c.640-854_640-853del rs201655854
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000180.4(GUCY2D):c.3043+11C>T rs116870332
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln) rs3755955
NM_000208.4(INSR):c.1638C>T (p.Asp546=) rs2229429
NM_000208.4(INSR):c.1650G>A (p.Ala550=) rs2059806
NM_000208.4(INSR):c.653-23TC[9] rs3835070
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro) rs193922357
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=) rs11601907
NM_000238.4(KCNH2):c.1467C>T (p.Ile489=) rs740952
NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000238.4(KCNH2):c.3331-13GT[2] rs41313749
NM_000243.3(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000249.4(MLH1):c.885-21TC[2] rs267607804
NM_000251.3(MSH2):c.942+24_942+29del rs11309117
NM_000251.3(MSH2):c.942+27_942+29del rs11309117
NM_000256.3(MYBPC3):c.506-12del rs11570050
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000260.4(MYO7A):c.6559-11C>T rs34517202
NM_000264.5(PTCH1):c.1602+15_1602+17del rs528001004
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu) rs357564
NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=) rs62637631
NM_000286.3(PEX12):c.681-3_681-2del rs138568975
NM_000288.4(PEX7):c.*407del rs200367862
NM_000288.4(PEX7):c.748-5del rs563675060
NM_000298.6(PKLR):c.*13T>C rs1052177
NM_000298.6(PKLR):c.375+10G>T rs8177971
NM_000314.6(PTEN):c.-903G>A rs1044322
NM_000314.8(PTEN):c.-511G>A rs12573787
NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del) rs572454921
NM_000329.3(RPE65):c.1302G>C (p.Ala434=) rs62636301
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000337.6(SGCD):c.699+13_699+15del rs397517924
NM_000371.4(TTR):c.337-14_337-11del rs112263266
NM_000384.3(APOB):c.10294C>G (p.Gln3432Glu)
NM_000384.3(APOB):c.12088-13del rs751121092
NM_000384.3(APOB):c.1223T>C (p.Ile408Thr)
NM_000384.3(APOB):c.12697T>A (p.Ser4233Thr)
NM_000384.3(APOB):c.12809G>C (p.Arg4270Thr)
NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn)
NM_000384.3(APOB):c.13451C>T (p.Thr4484Met)
NM_000384.3(APOB):c.1661C>T (p.Pro554Leu)
NM_000384.3(APOB):c.2188G>A (p.Val730Ile)
NM_000384.3(APOB):c.2222C>A (p.Thr741Asn)
NM_000384.3(APOB):c.4265= (p.Cys1422=)
NM_000384.3(APOB):c.433C>T (p.Pro145Ser)
NM_000384.3(APOB):c.6936_6937inv (p.Ile2313Val)
NM_000384.3(APOB):c.7367C>A (p.Ala2456Asp)
NM_000384.3(APOB):c.9880T>C (p.Ser3294Pro)
NM_000398.7(CYB5R3):c.22-18C>A rs2285141
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000431.4(MVK):c.780C>A (p.Ile260=) rs34975996
NM_000432.4(MYL2):c.274+16_274+17insTC rs200007468
NM_000435.3(NOTCH3):c.1620G>T (p.Thr540=) rs75617410
NM_000435.3(NOTCH3):c.1725G>A (p.Thr575=) rs79926127
NM_000435.3(NOTCH3):c.1951+38C>G rs78329155
NM_000435.3(NOTCH3):c.1951+38C>T rs78329155
NM_000435.3(NOTCH3):c.1952-11G>T
NM_000435.3(NOTCH3):c.4736+9dup rs369417981
NM_000441.2(SLC26A4):c.416-16G>T rs114992866
NM_000478.6(ALPL):c.472+12del rs35423948
NM_000489.6(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.4(CFTR):c.1117-26_1117-25del rs397508159
NM_000492.4(CFTR):c.1210-15_1210-13delinsT rs1584793324
NM_000492.4(CFTR):c.1210-34TG[10] rs3832534
NM_000492.4(CFTR):c.1210-34TG[12] rs3832534
NM_000492.4(CFTR):c.1210-34TG[9] rs3832534
NM_000492.4(CFTR):c.744-33GATT[6] rs1805171
NM_000492.4(CFTR):c.744-33GATT[8] rs1805171
NM_000517.6(HBA2):c.237C>A (p.Asn79Lys) rs281860607
NM_000517.6(HBA2):c.301-24delinsCTCGGCCC rs1596570272
NM_000517.6(HBA2):c.95+39C>T rs1025977498
NM_000518.4(HBB):c.-92C>G rs397515291
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) rs33961886
NM_000518.5(HBB):c.363A>C (p.Lys121Asn) rs34726542
NM_000527.5(LDLR):c.1060+10G>C
NM_000527.5(LDLR):c.1060+7=
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.2140+5G>A
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.941-4G>A
NM_000535.7(PMS2):c.*92dup rs267608145
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.2174+1097_2174+1099delinsACC rs2128696482
NM_000543.5(SMPD1):c.107_118del (p.Val36_Leu39del) rs550365194
NM_000546.6(TP53):c.673-36G>C rs17880604
NM_000548.5(TSC2):c.-29-10G>C rs28537973
NM_000548.5(TSC2):c.1600-14C>T rs45517185
NM_000548.5(TSC2):c.1869C>T (p.Ala623=) rs111244727
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.5068+27_5069-47del
NM_000548.5(TSC2):c.5397G>C (p.Ser1799=) rs1051771
NM_000552.5(VWF):c.1946-17_1946-15dup rs10622288
NM_000552.5(VWF):c.4414G>C (p.Asp1472His) rs1800383
NM_000552.5(VWF):c.4824C>T (p.Thr1608=) rs142635883
NM_000552.5(VWF):c.7888-17T>C
NM_000558.5(HBA1):c.163C>G (p.Gln55Glu) rs35317336
NM_000558.5(HBA1):c.237C>A (p.Asn79Lys)
NM_000558.5(HBA1):c.362C>A (p.Ala121Glu) rs63749927
NM_000709.4(BCKDHA):c.648G>T (p.Ala216=) rs114716391
NM_000719.7(CACNA1C):c.5445-586_5445-584delinsTGG rs71441836
NM_000719.7(CACNA1C):c.5680+11C>T rs66611965
NM_001006658.3(CR2):c.624C>A (p.Pro208=) rs61759494
NM_001006658.3(CR2):c.624C>G (p.Pro208=) rs61759494
NM_001024630.4(RUNX2):c.225GGCGGCTGCGGCGGCGGC[1] (p.Ala84_Ala89del) rs11498192
NM_001032283.3(TMPO):c.284C>A (p.Ala95Asp) rs1565808154
NM_001034853.2(RPGR):c.1576CAA[1] (p.Gln527del) rs62653033
NM_001035.3(RYR2):c.14481C>A (p.Ile4827=) rs114303476
NM_001035.3(RYR2):c.14481C>T (p.Ile4827=) rs114303476
NM_001035.3(RYR2):c.4597-11del rs3841805
NM_001035.3(RYR2):c.5154G>A (p.Arg1718=) rs114534505
NM_001035.3(RYR2):c.7222-12dup rs145140335
NM_001040151.2(SCN3B):c.198C>T (p.Pro66=) rs115752338
NM_001040151.2(SCN3B):c.390G>A (p.Ala130=) rs148484744
NM_001042492.3(NF1):c.61-4dup rs551568608
NM_001042492.3(NF1):c.6147+8C>G rs182709912
NM_001042492.3(NF1):c.6922-14_6922-13del rs146785663
NM_001042492.3(NF1):c.7971-8del rs564545012
NM_001048174.2(MUTYH):c.528A>T (p.Thr176=) rs1557477022
NM_001081.4(CUBN):c.7346T>C (p.Met2449Thr) rs41301097
NM_001099857.5(IKBKG):c.1056-6= rs5945206
NM_001110556.2(FLNA):c.1095C>T (p.Ile365=) rs373366243
NM_001110556.2(FLNA):c.3805+15C>T rs144968452
NM_001110792.2(MECP2):c.399T>G (p.Asp133Glu) rs2065982277
NM_001127511.3(APC):c.-126dup rs565045828
NM_001127898.4(CLCN5):c.819= (p.Ser273=) rs34464675
NM_001142733.3(ASB14):c.*120dup
NM_001142864.4(PIEZO1):c.1141_1143del (p.Asp381del) rs543368793
NM_001142864.4(PIEZO1):c.1179C>G (p.Ser393=) rs780119372
NM_001142864.4(PIEZO1):c.1557+16C>G rs734918
NM_001142864.4(PIEZO1):c.2233CAG[4] (p.Gln749del) rs144777557
NM_001142864.4(PIEZO1):c.2247GGA[7] (p.Glu756del) rs59446030
NM_001142864.4(PIEZO1):c.2280C>T (p.Asp760=)
NM_001142864.4(PIEZO1):c.2664+12C>G rs58273686
NM_001142864.4(PIEZO1):c.2664+7del rs556884023
NM_001142864.4(PIEZO1):c.2860C>A (p.Arg954=) rs765257824
NM_001142864.4(PIEZO1):c.3699+20_3699+21delinsCG rs1904465031
NM_001142864.4(PIEZO1):c.3700-35GCCCCGCTG[3] rs143054492
NM_001142864.4(PIEZO1):c.3796+16G>A rs529764376
NM_001142864.4(PIEZO1):c.3969-5T>C rs4782429
NM_001142864.4(PIEZO1):c.4149C>T (p.Pro1383=) rs548943574
NM_001142864.4(PIEZO1):c.4388AGCAGG[4] (p.1465EQ[3]) rs11281795
NM_001142864.4(PIEZO1):c.4495+10_4495+14dup rs567560285
NM_001142864.4(PIEZO1):c.4956-17C>T
NM_001142864.4(PIEZO1):c.5121G>C (p.Ser1707=) rs34346312
NM_001142864.4(PIEZO1):c.5289C>T (p.Tyr1763=) rs72811487
NM_001142864.4(PIEZO1):c.5538C>G (p.Ala1846=) rs8043924
NM_001142864.4(PIEZO1):c.5629AAG[1] (p.Lys1878del) rs3217718
NM_001142864.4(PIEZO1):c.6231C>G (p.Ser2077=)
NM_001142864.4(PIEZO1):c.65-17C>G rs149858134
NM_001142864.4(PIEZO1):c.6651C>A (p.Gly2217=) rs117669855
NM_001142864.4(PIEZO1):c.848+17C>T rs8060643
NM_001145809.2(MYH14):c.192G>T (p.Gly64=) rs181055215
NM_001145809.2(MYH14):c.33G>C (p.Arg11=) rs8106196
NM_001148.6(ANK2):c.11032+20TG[13] rs34201791
NM_001148.6(ANK2):c.11032+20TG[17] rs34201791
NM_001164277.2(SLC37A4):c.527= (p.Cys176=) rs56966114
NM_001184.4(ATR):c.3120G>A (p.Leu1040=) rs28910272
NM_001184.4(ATR):c.5739-14_5739-9del rs72272981
NM_001199397.3(NEK1):c.1081-8dup rs398124255
NM_001199397.3(NEK1):c.2588-12_2588-11del rs374055570
NM_001243133.2(NLRP3):c.726G>A (p.Ala242=) rs3806268
NM_001244008.2(KIF1A):c.2721GGA[12] (p.Glu917dup) rs10594016
NM_001244008.2(KIF1A):c.2721GGA[9] (p.Glu916_Glu917del) rs10594016
NM_001244008.2(KIF1A):c.865-24CT[2] rs140674901
NM_001256169.2(APOM):c.-102-1433T>C
NM_001267550.2(TTN):c.11255-17_11255-16del rs72647895
NM_001267550.2(TTN):c.13194A>G (p.Gln4398=) rs375347596
NM_001267550.2(TTN):c.14784C>A (p.Leu4928=) rs373875040
NM_001267550.2(TTN):c.21489C>G (p.Thr7163=) rs376882041
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu) rs149523263
NM_001267550.2(TTN):c.23853C>A (p.Ala7951=) rs201766927
NM_001267550.2(TTN):c.26762-39TTTGT[5] rs71393436
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup) rs368327166
NM_001267550.2(TTN):c.34129GTTCTACCTGAAGAAGAGGAA[1] (p.11363VLPEEEE[3]) rs587780487
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del) rs397517549
NM_001267550.2(TTN):c.38708-4T>C rs200819643
NM_001267550.2(TTN):c.38929C>T (p.Pro12977Ser) rs150223722
NM_001267550.2(TTN):c.39731TTGCTCCTGAAGAGGAAA[1] (p.13244IAPEEE[1]) rs139512154
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro) rs72647876
NM_001267550.2(TTN):c.45120T>G (p.Ile15040Met) rs74580375
NM_001267550.2(TTN):c.72033A>G (p.Pro24011=) rs72646894
NM_001267550.2(TTN):c.82385C>A (p.Thr27462Lys) rs55933739
NM_001276345.2(TNNT2):c.53-11_53-7del rs45533739
NM_001282225.2(ADA2):c.1082-42_1082-16del rs577994684
NM_001321133.2(GOSR2):c.750A>G (p.Leu250=)
NM_001355436.2(SPTB):c.1342-11C>T
NM_001355436.2(SPTB):c.1350T>C (p.Phe450=)
NM_001355436.2(SPTB):c.1431G>A (p.Arg477=) rs886050626
NM_001355436.2(SPTB):c.2805-5G>A
NM_001355436.2(SPTB):c.4563+12G>C rs1741489
NM_001355436.2(SPTB):c.5553+15dup rs368080074
NM_001355436.2(SPTB):c.6270-8_6270-6dup rs528966701
NM_001355436.2(SPTB):c.6483C>T (p.Ser2161=) rs143820600
NM_001360016.2(G6PD):c.1311= (p.Tyr437=) rs2230037
NM_001363871.4(PDE1A):c.53+38808_53+38811del
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001365951.3(KIF1B):c.184-6_184-5del rs138324955
NM_001366110.1(PAX4):c.598C>A (p.Arg200Ser) rs3824004
NM_001374353.1(GLI2):c.4281_4282delinsAT (p.Met1427_Leu1428delinsIlePhe) rs1553479775
NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=) rs17512783
NM_001377229.1(DISP1):c.307_309delinsAAT (p.Glu103Asn) rs71583926
NM_001377229.1(DISP1):c.3739G>A (p.Ala1247Thr) rs9441940
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_001498.4(GCLC):c.-29AGG[10] rs3830798
NM_001498.4(GCLC):c.-29AGG[8] rs3830798
NM_001498.4(GCLC):c.-29AGG[9] rs3830798
NM_001530.4(HIF1A):c.1744C>T (p.Pro582Ser)
NM_001530.4(HIF1A):c.35+2003del
NM_001530.4(HIF1A):c.639G>A (p.Lys213=)
NM_001753.5(CAV1):c.30+19dup rs749316760
NM_001853.4(COL9A3):c.1816G>A (p.Ala606Thr) rs142792529
NM_001854.4(COL11A1):c.1792-39ATG[11] rs71752747
NM_001875.4(CPS1):c.1030_1032delinsGCT (p.Thr344Ala) rs386654705
NM_001940.4(ATN1):c.2823C>G (p.Asp941Glu)
NM_001943.5(DSG2):c.877A>G (p.Ile293Val) rs2230234
NM_001972.4(ELANE):c.606C>A (p.Ser202=) rs17216649
NM_001972.4(ELANE):c.606C>T (p.Ser202=) rs17216649
NM_001999.4(FBN2):c.3848-10G>T rs140017238
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=) rs17608368
NM_002180.3(IGHMBP2):c.1538-20C>T rs147148090
NM_002230.4(JUP):c.909+6C>T rs193922705
NM_002296.4(LBR):c.893-5del rs78306811
NM_002335.4(LRP5):c.3236+21_3236+24del rs140066812
NM_002439.5(MSH3):c.1764-9_1764-8del rs41559616
NM_002454.3(MTRR):c.997C>G (p.Leu333Val) rs10064631
NM_002471.4(MYH6):c.1131C>T (p.Asp377=) rs61742472
NM_002471.4(MYH6):c.2806G>T (p.Ala936Ser) rs141704264
NM_002471.4(MYH6):c.3979-11C>G rs200618133
NM_002471.4(MYH6):c.3979-14C>A rs372226248
NM_002471.4(MYH6):c.3979-8C>T rs555976716
NM_002471.4(MYH6):c.4360-7C>T rs58949384
NM_002473.6(MYH9):c.5483+4C>G rs56327920
NM_002473.6(MYH9):c.5766-3del rs141686520
NM_002473.6(MYH9):c.5781G>T (p.Pro1927=) rs80050551
NM_002474.3(MYH11):c.5796C>T (p.Asn1932=) rs149529195
NM_002661.5(PLCG2):c.1935-14G>T rs55645129
NM_002661.5(PLCG2):c.540C>G (p.Ala180=) rs150276286
NM_002691.4(POLD1):c.324G>T (p.Ala108=) rs20582
NM_002693.3(POLG):c.126GCA[10] (p.Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[13] (p.Gln54_Gln55dup) rs41550117
NM_002693.3(POLG):c.856-17CTC[4] rs200056162
NM_002755.4(MAP2K1):c.694-12TC[4] rs113913469
NM_002880.4(RAF1):c.1629G>C (p.Thr543=) rs5746244
NM_002890.3(RASA1):c.829-12del rs564571974
NM_003000.3(SDHB):c.424-37TTC[10] rs34261028
NM_003000.3(SDHB):c.424-37TTC[7] rs34261028
NM_003001.3(SDHC):c.20+11_20+12dup rs35215598
NM_003051.4(SLC16A1):c.362-58TATT[9] rs149491709
NM_003072.5(SMARCA4):c.4170+17C>T rs145829956
NM_003200.5(TCF3):c.-11G>C
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln) rs149845612
NM_003923.3(FOXH1):c.771C>A (p.Gly257=) rs115750264
NM_003924.4(PHOX2B):c.756_776del (p.Ala254_Ala260del) rs17879189
NM_004006.3(DMD):c.1869C>T (p.Leu623=) rs1800267
NM_004006.3(DMD):c.832-18_832-17delinsGA rs2063783358
NM_004006.3(DMD):c.94-9dup rs3834997
NM_004082.5(DCTN1):c.627G>T (p.Pro209=) rs147673066
NM_004168.4(SDHA):c.771-11A>G rs2288461
NM_004281.4(BAG3):c.212G>A (p.Arg71Gln) rs35434411
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup) rs139438727
NM_004360.5(CDH1):c.1308G>A (p.Leu436=) rs557551011
NM_004364.5(CEBPA):c.546GCC[6] (p.Pro189del) rs746430067
NM_004364.5(CEBPA):c.572ACCCGC[4] (p.191HP[4]) rs762459325
NM_004415.4(DSP):c.12C>G (p.Asn4Lys) rs368802003
NM_004444.5(EPHB4):c.1314T>C (p.Ser438=) rs144173
NM_004444.5(EPHB4):c.2949G>T (p.Pro983=) rs112803997
NM_004444.5(EPHB4):c.52+14C>G rs2304374
NM_004444.5(EPHB4):c.52+14_52+15del rs1491219865
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.52GCG[8] (p.Ala26del) rs11466445
NM_004655.4(AXIN2):c.1235A>G (p.Asn412Ser) rs115931022
NM_004655.4(AXIN2):c.2013_2024del (p.Thr672_Arg675del) rs151279728
NM_004984.4(KIF5A):c.1176G>A (p.Glu392=) rs75907338
NM_004990.4(MARS1):c.873C>T (p.Ala291=) rs79531790
NM_005219.5(DIAPH1):c.1821TCC[12] (p.Pro620dup) rs3075570
NM_005228.5(EGFR):c.2508C>T (p.Arg836=) rs2229066
NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter) rs121909305
NM_005475.3(SH2B3):c.1236+4TGGGG[4] rs111340708
NM_005529.7(HSPG2):c.11685C>G (p.Pro3895=) rs62642501
NM_005529.7(HSPG2):c.12952C>A (p.Arg4318=) rs3736358
NM_005529.7(HSPG2):c.744T>C (p.Leu248=) rs2229478
NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu) rs147114700
NM_005529.7(HSPG2):c.9329-8_9329-7delinsTT rs386629395
NM_005633.4(SOS1):c.2167+16dup rs79984786
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006005.3(WFS1):c.1797C>A (p.Val599=) rs71524361
NM_006005.3(WFS1):c.2158A>G (p.Ile720Val) rs1805070
NM_006005.3(WFS1):c.2370G>A (p.Ser790=) rs150936382
NM_006017.3(PROM1):c.1454+15CT[2] rs143998754
NM_006182.4(DDR2):c.855+18_855+19del rs71965757
NM_006231.4(POLE):c.2083T>A (p.Phe695Ile) rs5744799
NM_006231.4(POLE):c.2089C>T (p.Pro697Ser) rs5744800
NM_006231.4(POLE):c.4552-10G>T rs5744946
NM_006231.4(POLE):c.4952+17_4952+19dup rs571641918
NM_006308.3(HSPB3):c.347G>A (p.Arg116Gln) rs150931007
NM_006363.4(SEC23B):c.-566G>C rs6075350
NM_006363.6(SEC23B):c.1233+9_1233+11delinsGACT rs2060179027
NM_006415.4(SPTLC1):c.452G>T (p.Arg151Leu) rs45461899
NM_006506.5(RASA2):c.2124A>T (p.Gln708His) rs61750362
NM_006506.5(RASA2):c.657G>A (p.Pro219=) rs34238772
NM_006767.4(LZTR1):c.321-14_321-3del rs137977968
NM_006892.4(DNMT3B):c.1760-8C>G rs2424926
NM_006892.4(DNMT3B):c.1760-8C>T rs2424926
NM_007078.3(LDB3):c.465C>T (p.Leu155=) rs45516997
NM_007078.3(LDB3):c.576G>A (p.Pro192=) rs45543741
NM_007078.3(LDB3):c.576G>T (p.Pro192=) rs45543741
NM_007274.4(ACOT7):c.-62_-61insC
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.3600G>C (p.Gln1200His) rs56214134
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.4(BRCA1):c.81-13C>G rs56328013
NM_012330.4(KAT6B):c.3289GAA[7] (p.Glu1104del) rs71929101
NM_012472.6(DNAAF11):c.974+18G>A rs185791758
NM_014000.3(VCL):c.622+4C>T rs201020802
NM_014208.3(DSPP):c.3021T>C (p.Ser1007=)
NM_014208.3(DSPP):c.3102CGATAGCAGTGACAGCAG[2] (p.1032DSS[6]) rs773557330
NM_014208.3(DSPP):c.3492_3500del (p.1152_1154DSS[8]) rs537399785
NM_014208.3(DSPP):c.3642_3650del (p.1181SDS[16]) rs765828689
NM_014251.3(SLC25A13):c.328+6=
NM_014639.4(SKIC3):c.3015-4del rs745805590
NM_014920.5(CILK1):c.831+5del rs200780900
NM_015046.7(SETX):c.5375-18CTT[2] rs201317659
NM_015046.7(SETX):c.6843-5del rs34769225
NM_015106.4(RAD54L2):c.1713C>T (p.Leu571=)
NM_015340.4(LARS2):c.945G>A (p.Ser315=) rs145135580
NM_015450.3(POT1):c.1211G>T (p.Gly404Val) rs35536751
NM_015541.3(LRIG1):c.290+616A>T
NM_015697.9(COQ2):c.64A>C (p.Arg22=) rs112033303
NM_017636.4(TRPM4):c.1459_1494del (p.Lys487_Leu498del) rs878855029
NM_017654.4(SAMD9):c.1645G>T (p.Val549Leu) rs10279499
NM_017668.3(NDE1):c.*388del rs543763112
NM_019076.5(UGT1A8):c.855+63766_855+63767delinsAA rs386656364
NM_020297.4(ABCC9):c.2644-11G>A rs61926078
NM_020297.4(ABCC9):c.817-18del rs199947733
NM_020297.4(ABCC9):c.817-7del rs193922684
NM_020366.4(RPGRIP1):c.837T>C (p.Leu279=) rs751301091
NM_020433.5(JPH2):c.624C>G (p.Ala208=) rs398124358
NM_020435.4(GJC2):c.454GAG[6] (p.Glu158del) rs746050475
NM_020631.6(PLEKHG5):c.2145GGA[6] (p.Glu722_Glu723del) rs113541584
NM_020631.6(PLEKHG5):c.2160_2161del (p.Glu721fs)
NM_020631.6(PLEKHG5):c.2164del (p.Glu722fs) rs201182604
NM_020631.6(PLEKHG5):c.2319C>T (p.Pro773=) rs80031446
NM_020779.4(WDR35):c.1058G>C (p.Arg353Pro) rs76623454
NM_021939.4(FKBP10):c.1256+17dup rs55720039
NM_022489.4(INF2):c.1262CACCCC[3] (p.Pro427_Pro428del) rs573567814
NM_022489.4(INF2):c.1582C>T (p.Pro528Ser) rs181694819
NM_024334.3(TMEM43):c.512+19G>T rs114026215
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024675.4(PALB2):c.2607C>T (p.Ser869=) rs45542234
NM_024753.5(TTC21B):c.114C>G (p.Val38=) rs34486024
NM_024753.5(TTC21B):c.3519T>C (p.Thr1173=) rs115504901
NM_024753.5(TTC21B):c.3519T>G (p.Thr1173=) rs115504901
NM_024809.5(TCTN2):c.891+54del rs58689399
NM_024915.4(GRHL2):c.285-14del rs727504472
NM_024923.4(NUP210):c.305-524G>A
NM_025114.4(CEP290):c.1825-17CT[2] rs367600498
NM_025132.4(WDR19):c.1480-3del rs748620855
NM_025132.4(WDR19):c.291-37C>T rs28458249
NM_031475.3(ESPN):c.1797_1808del (p.Pro602_Pro605del) rs548962140
NM_031475.3(ESPN):c.702C>G (p.Ser234=) rs367944375
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn) rs41302834
NM_032169.5(ACAD11):c.470= (p.His157=)
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del) rs113363047
NM_033409.4(SLC52A3):c.705C>T (p.Leu235=) rs3746806
NM_052867.4(NALCN):c.1135-10G>A rs114020374
NM_053025.4(MYLK):c.-72C>T rs2700352
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_053025.4(MYLK):c.260G>A (p.Gly87Glu) rs368325180
NM_053025.4(MYLK):c.4289-10dup rs41431347
NM_080680.3(COL11A2):c.2899-9del rs397517477
NM_080680.3(COL11A2):c.3313-20_3313-17del rs574904915
NM_130810.4(DNAAF4):c.-13C>T rs61753409
NM_133379.5(TTN):c.13633G>A (p.Ala4545Thr) rs147884688
NM_138691.3(TMC1):c.238GAA[3] (p.Glu83del) rs376040866
NM_144997.7(FLCN):c.75G>A (p.Leu25=) rs200350612
NM_147127.5(EVC2):c.2394_2395delinsAC (p.Asp799His) rs1577169974
NM_147127.5(EVC2):c.451-16_451-15del rs377541465
NM_153230.3(FBXO39):c.*122dup
NM_153676.4(USH1C):c.225T>C (p.Asp75=) rs111033279
NM_153717.3(EVC):c.1854C>T (p.Gly618=) rs11737221
NM_153717.3(EVC):c.2562-4C>G rs60082311
NM_174936.4(PCSK9):c.1327G>A (p.Ala443Thr)
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)
NM_174936.4(PCSK9):c.1420G>A (p.Val474Ile)
NM_174936.4(PCSK9):c.1503+20GT[18] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[19] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[27] rs35115360
NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)
NM_174936.4(PCSK9):c.2009G>A (p.Gly670Glu)
NM_174936.4(PCSK9):c.45GCT[8] (p.Leu23dup) rs35574083
NM_175914.5(HNF4A):c.224+17dup rs371937621
NM_177438.3(DICER1):c.145-22dup rs558991368
NM_177438.3(DICER1):c.1510-4dup rs546524688
NM_181332.3(NLGN4X):c.1779C>G (p.Leu593=) rs3747334
NM_194248.3(OTOF):c.4332C>T (p.Thr1444=) rs149236286
NM_198317.3(KLHL17):c.1043-22C>T
NM_206933.4(USH2A):c.12743A>G (p.His4248Arg) rs145830318
NM_206933.4(USH2A):c.14513G>A (p.Gly4838Glu) rs41315587
NM_206933.4(USH2A):c.15428G>A (p.Arg5143His) rs111033435
NM_213599.3(ANO5):c.2236-10dup rs72105710
NM_213599.3(ANO5):c.295-8dup rs778435515
UGT1A1*36 rs3064744

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