ClinVar Miner

List of variants reported as likely benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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ClinVar version:
Total variants: 5275
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HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.3903+6C>T rs2282057 0.53754
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243 0.41549
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val) rs3737515 0.25425
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_052945.4(TNFRSF13C):c.62C>G (p.Pro21Arg) rs77874543 0.05538
NM_000074.2(CD40LG):c.-191A>C rs36206512 0.02791
NM_001430.5(EPAS1):c.1035-15T>C rs116510029 0.02125
NM_001430.5(EPAS1):c.2511C>T (p.Pro837=) rs35795449 0.01843
NM_014014.5(SNRNP200):c.5775C>G (p.Ala1925=) rs72825880 0.01765
NM_003126.4(SPTA1):c.4453C>T (p.Leu1485Phe) rs34973695 0.01729
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_001374353.1(GLI2):c.3892C>T (p.Pro1298Ser) rs114376238 0.01651
NM_001002010.5(NT5C3A):c.91T>C (p.Phe31Leu) rs72555707 0.01571
NM_000112.4(SLC26A2):c.*4391G>T rs150508217 0.01531
NM_000642.3(AGL):c.112A>G (p.Thr38Ala) rs35278779 0.01527
NM_006446.5(SLCO1B1):c.1200C>G (p.Phe400Leu) rs59113707 0.01516
NM_000175.5(GPI):c.623T>C (p.Ile208Thr) rs8191371 0.01437
NM_000447.3(PSEN2):c.185G>A (p.Arg62His) rs58973334 0.01433
NM_003126.4(SPTA1):c.4490G>A (p.Gly1497Glu) rs41273523 0.01332
NM_003126.4(SPTA1):c.2520G>C (p.Glu840Asp) rs34577746 0.01305
NM_001142864.4(PIEZO1):c.2992-18G>A rs190814667 0.01297
NM_000037.4(ANK1):c.654C>A (p.Asn218Lys) rs61735313 0.01280
NM_138477.4(CDAN1):c.2836C>T (p.Arg946Trp) rs114779238 0.01260
NM_138477.4(CDAN1):c.157C>T (p.Leu53=) rs186189866 0.01218
NM_002863.5(PYGL):c.2416A>T (p.Ile806Leu) rs34313873 0.01205
NM_001498.4(GCLC):c.1384C>T (p.Pro462Ser) rs17883718 0.01172
NM_001177316.2(SLC34A3):c.539G>C (p.Gly180Ala) rs35643193 0.01167
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031 0.01150
NM_024577.4(SH3TC2):c.477T>A (p.Ser159=) rs77574155 0.01137
NM_001142864.4(PIEZO1):c.4475G>A (p.Gly1492Asp) rs8051003 0.01135
NM_006446.5(SLCO1B1):c.1463G>C (p.Gly488Ala) rs59502379 0.01105
NM_178452.6(DNAAF1):c.1769C>T (p.Thr590Met) rs34777958 0.01090
NM_000717.5(CA4):c.700G>A (p.Val234Ile) rs117704637 0.01071
NM_020778.5(ALPK3):c.401G>A (p.Arg134His) rs34407151 0.01062
NM_006721.4(ADK):c.726+11T>G rs45529443 0.01033
NM_001379610.1(SPINK1):c.200G>A (p.Arg67His) rs35523678 0.01028
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr) rs11466045 0.01021
NM_000074.3(CD40LG):c.655G>A (p.Gly219Arg) rs148594123 0.01015
NM_001142864.4(PIEZO1):c.6734G>A (p.Arg2245Gln) rs2290901 0.01007
NM_006363.6(SEC23B):c.770C>T (p.Thr257Ile) rs146917730 0.01006
NM_003126.4(SPTA1):c.3989G>T (p.Arg1330Ile) rs34214405 0.00972
NM_019844.4(SLCO1B3):c.439A>G (p.Thr147Ala) rs57585902 0.00971
NM_006446.5(SLCO1B1):c.733A>G (p.Ile245Val) rs11045852 0.00969
NM_006446.5(SLCO1B1):c.728-17_728-14del rs150936610 0.00968
NM_002180.3(IGHMBP2):c.223G>A (p.Ala75Thr) rs2228206 0.00946
NM_017950.4(CCDC40):c.1123A>C (p.Lys375Gln) rs61734951 0.00943
NM_003126.4(SPTA1):c.6559A>G (p.Lys2187Glu) rs111980420 0.00939
NM_138477.4(CDAN1):c.3194G>A (p.Arg1065Gln) rs61746356 0.00932
NM_145045.5(ODAD3):c.1501G>A (p.Gly501Ser) rs77133587 0.00924
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_001360016.2(G6PD):c.645-17C>T rs5986875 0.00915
NM_019076.5(UGT1A8):c.855+63792G>C rs114052958 0.00908
NM_181078.3(IL21R):c.-17+563G>A rs117535117 0.00901
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968 0.00898
NM_001142864.4(PIEZO1):c.748G>A (p.Val250Ile) rs115486714 0.00895
NM_182961.4(SYNE1):c.10827A>C (p.Gln3609His) rs79486252 0.00887
NM_001142864.4(PIEZO1):c.5828G>A (p.Arg1943Gln) rs115799619 0.00868
NM_003126.4(SPTA1):c.6437A>G (p.Gln2146Arg) rs138055271 0.00862
NM_020778.5(ALPK3):c.3362A>G (p.Gln1121Arg) rs114132013 0.00860
NM_174936.4(PCSK9):c.1326C>T (p.Ala442=) rs28362262 0.00856
NM_000037.4(ANK1):c.5544+91C>T rs72638959 0.00849
NM_001142864.4(PIEZO1):c.998G>A (p.Arg333His) rs139099911 0.00845
NM_000552.5(VWF):c.2900G>A (p.Gly967Asp) rs141087261 0.00842
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) rs17159287 0.00833
NM_006446.5(SLCO1B1):c.1495A>G (p.Ile499Val) rs74064213 0.00823
NM_003126.4(SPTA1):c.1958A>G (p.Tyr653Cys) rs148912436 0.00813
NM_000398.7(CYB5R3):c.898G>A (p.Val300Ile) rs61743746 0.00802
NM_001142864.4(PIEZO1):c.1702C>T (p.Leu568=) rs114584865 0.00796
NM_001375808.2(LPIN2):c.-10+1313C>T rs116643915 0.00793
NM_002439.5(MSH3):c.1567G>A (p.Glu523Lys) rs34058399 0.00789
NM_170707.4(LMNA):c.438C>T (p.Ala146=) rs80356805 0.00782
NM_014915.3(ANKRD26):c.3655G>A (p.Val1219Ile) rs146819984 0.00781
NM_012144.4(DNAI1):c.1401+17G>A rs138412741 0.00773
NM_006363.6(SEC23B):c.834+116A>G rs113825530 0.00772
NM_006363.6(SEC23B):c.1743+168A>G rs111951711 0.00771
NM_016239.4(MYO15A):c.2680C>T (p.Pro894Ser) rs76707172 0.00765
NM_005142.3(CBLIF):c.193G>A (p.Gly65Arg) rs11825834 0.00763
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His) rs59887778 0.00758
NM_001355436.2(SPTB):c.1765G>A (p.Ala589Thr) rs61459051 0.00757
NM_001081.4(CUBN):c.2594G>A (p.Ser865Asn) rs138083522 0.00756
NM_022356.4(P3H1):c.611C>A (p.Pro204His) rs77208721 0.00751
NM_001142864.4(PIEZO1):c.7529C>T (p.Pro2510Leu) rs61745086 0.00748
NM_002838.5(PTPRC):c.1268C>T (p.Thr423Ile) rs6696162 0.00748
NM_004744.5(LRAT):c.74T>A (p.Phe25Tyr) rs75368761 0.00748
NM_198999.3(SLC26A5):c.-53-2A>G rs116900495 0.00748
NM_000215.4(JAK3):c.2164G>A (p.Val722Ile) rs3213409 0.00743
NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn) rs61753611 0.00740
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427 0.00734
NM_001142864.4(PIEZO1):c.5552C>T (p.Thr1851Met) rs34370460 0.00731
NM_194248.3(OTOF):c.98G>A (p.Arg33Gln) rs56332208 0.00731
NM_002506.3(NGF):c.214G>A (p.Val72Met) rs11466110 0.00727
NM_000476.3(AK1):c.484G>A (p.Ala162Thr) rs35902264 0.00726
NM_001291303.3(FAT4):c.12071G>A (p.Arg4024Gln) rs28515675 0.00726
NM_004356.4(CD81):c.648+10C>T rs34510250 0.00724
NM_052945.4(TNFRSF13C):c.191G>T (p.Gly64Val) rs547352394 0.00722
NM_080860.4(RSPH1):c.650T>G (p.Leu217Trp) rs138007679 0.00716
NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn) rs179363896 0.00715
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys) rs41549716 0.00708
NM_004984.4(KIF5A):c.396+14G>A rs17119769 0.00700
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_019844.4(SLCO1B3):c.11A>G (p.His4Arg) rs61612406 0.00698
NM_014874.4(MFN2):c.957C>T (p.Gly319=) rs41278632 0.00690
NM_002769.5(PRSS1):c.40+34C>T rs202051517 0.00687
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656 0.00682
NM_003126.4(SPTA1):c.3149C>T (p.Pro1050Leu) rs116297260 0.00678
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808 0.00678
NM_006363.6(SEC23B):c.1484G>A (p.Arg495His) rs141588462 0.00677
NM_181078.3(IL21R):c.824G>A (p.Arg275Gln) rs52822694 0.00673
NM_080680.3(COL11A2):c.1098G>A (p.Ala366=) rs73741539 0.00672
NM_001498.4(GCLC):c.1524G>A (p.Thr508=) rs17881359 0.00669
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344 0.00668
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr) rs111991705 0.00667
NM_000183.3(HADHB):c.830A>G (p.Lys277Arg) rs57969630 0.00662
NM_019076.5(UGT1A8):c.855+63761A>G rs56385016 0.00660
NM_017654.4(SAMD9):c.4733T>C (p.Ile1578Thr) rs144380633 0.00655
NM_001142864.4(PIEZO1):c.6222C>T (p.Phe2074=) rs34388120 0.00654
NM_015046.7(SETX):c.1957C>A (p.Gln653Lys) rs116333061 0.00653
NM_000552.5(VWF):c.391G>A (p.Gly131Ser) rs76505074 0.00651
NM_006073.4(TRDN):c.1538-13T>G rs55704802 0.00651
NM_017950.4(CCDC40):c.1303G>A (p.Glu435Lys) rs62000409 0.00649
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476 0.00640
NM_000053.4(ATP7B):c.-54G>T rs115564351 0.00634
NM_000637.5(GSR):c.1069A>G (p.Ile357Val) rs75673983 0.00632
NM_133259.4(LRPPRC):c.58C>T (p.Leu20Phe) rs184339274 0.00631
NM_006294.5(UQCRB):c.258+268G>A rs145799884 0.00624
NM_002769.5(PRSS1):c.200+23C>T rs112426474 0.00622
NM_012452.3(TNFRSF13B):c.61+10C>T rs148297590 0.00621
NM_001114134.2(EPB42):c.1767C>A (p.His589Gln) rs114354377 0.00619
NM_000243.3(MEFV):c.*9C>T rs11466048 0.00618
NM_001277115.2(DNAH11):c.4598T>G (p.Ile1533Ser) rs73682656 0.00615
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463 0.00613
NM_002234.4(KCNA5):c.1733G>A (p.Arg578Lys) rs12720445 0.00612
NM_005529.7(HSPG2):c.10045C>G (p.Leu3349Val) rs75843082 0.00610
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895 0.00606
NM_019844.4(SLCO1B3):c.108C>G (p.Phe36Leu) rs79042365 0.00606
NM_006231.4(POLE):c.776G>A (p.Arg259His) rs61732929 0.00604
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu) rs36023150 0.00602
NM_018076.5(ODAD2):c.612T>A (p.Asp204Glu) rs61729354 0.00602
NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn) rs35493783 0.00602
NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile) rs141159831 0.00600
NM_001142864.4(PIEZO1):c.7505A>G (p.Lys2502Arg) rs34830861 0.00599
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr) rs114026724 0.00598
NM_000143.4(FH):c.53C>T (p.Pro18Leu) rs201887750 0.00597
NM_001267550.2(TTN):c.36126A>C (p.Glu12042Asp) rs113231696 0.00597
NM_001291303.3(FAT4):c.4154T>C (p.Leu1385Ser) rs139883132 0.00597
NM_019076.5(UGT1A8):c.855+63718G>A rs61261057 0.00596
NM_002529.4(NTRK1):c.2272G>A (p.Ala758Thr) rs62640939 0.00591
NM_000243.3(MEFV):c.1760-97G>A rs11466044 0.00589
NM_001142800.2(EYS):c.7796A>G (p.His2599Arg) rs74636274 0.00587
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser) rs114832250 0.00587
NM_001267550.2(TTN):c.2270C>T (p.Pro757Leu) rs116307796 0.00586
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936 0.00585
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro) rs28730852 0.00579
NM_001261428.3(LPIN1):c.45G>A (p.Ser15=) rs145228255 0.00576
NM_001365088.1(SLC12A6):c.318C>T (p.Asp106=) rs116086579 0.00575
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His) rs73969684 0.00574
NM_002471.4(MYH6):c.2579G>A (p.Arg860His) rs115845031 0.00573
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911 0.00572
NM_000321.3(RB1):c.2521-11G>A rs4151624 0.00570
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe) rs141716975 0.00570
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441 0.00569
NM_001972.4(ELANE):c.770C>T (p.Pro257Leu) rs17216663 0.00569
NM_001142864.4(PIEZO1):c.4495+4C>T rs140520334 0.00562
NM_001377.3(DYNC2H1):c.11726-10A>T rs185916947 0.00561
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile) rs34139502 0.00561
NM_001370466.1(NOD2):c.785A>G (p.Asn262Ser) rs5743271 0.00557
NM_000719.7(CACNA1C):c.5139C>T (p.Asp1713=) rs115216455 0.00556
NM_006129.5(BMP1):c.2234-20C>T rs142089697 0.00555
NM_000297.4(PKD2):c.570G>T (p.Ala190=) rs541702320 0.00554
NM_000384.3(APOB):c.905-15C>G rs72653061 0.00554
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984 0.00554
NM_001109809.5(ZFP57):c.1086T>C (p.Thr362=) rs61730326 0.00553
NM_001109809.5(ZFP57):c.783C>T (p.Cys261=) rs61730328 0.00553
NM_001369.3(DNAH5):c.5115-4G>T rs141141086 0.00551
NM_001062.4(TCN1):c.925G>A (p.Val309Ile) rs72550758 0.00549
NM_001278298.2(COL6A5):c.2006T>G (p.Val669Gly) rs144238271 0.00545
NM_030943.4(AMN):c.773T>C (p.Leu258Ser) rs190222721 0.00544
NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser) rs142094773 0.00541
NM_001081.4(CUBN):c.6469A>G (p.Asn2157Asp) rs144360241 0.00541
NM_004990.4(MARS1):c.2180G>A (p.Arg727Gln) rs113808165 0.00541
NM_017866.6(TMEM70):c.684C>G (p.Asn228Lys) rs35564486 0.00541
NM_182925.5(FLT4):c.3460G>A (p.Gly1154Arg) rs75614493 0.00541
NM_000557.5(GDF5):c.349G>T (p.Ala117Ser) rs151149144 0.00539
NM_000335.5(SCN5A):c.1743G>A (p.Ser581=) rs41313687 0.00537
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725 0.00537
NM_000532.5(PCCB):c.546G>A (p.Arg182=) rs61598773 0.00533
NM_015512.5(DNAH1):c.6676A>G (p.Ile2226Val) rs112505934 0.00533
NM_000517.6(HBA2):c.95+27C>T rs558457816 0.00531
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005 0.00531
NM_000208.4(INSR):c.1123+13G>T rs72549236 0.00526
NM_001142864.4(PIEZO1):c.1723G>A (p.Val575Met) rs187832410 0.00523
NM_001377229.1(DISP1):c.3287T>C (p.Met1096Thr) rs144673025 0.00523
NM_001770.6(CD19):c.381G>A (p.Ser127=) rs142342927 0.00523
NM_138477.4(CDAN1):c.1368-15G>A rs74586882 0.00523
NM_001013703.4(EIF2AK4):c.4007A>G (p.Lys1336Arg) rs35480871 0.00518
NM_000384.3(APOB):c.12794T>C (p.Val4265Ala) rs61743502 0.00516
NM_005327.7(HADH):c.275T>G (p.Phe92Cys) rs61735992 0.00516
NM_001378454.1(ALMS1):c.6752A>G (p.Asp2251Gly) rs28730855 0.00515
NM_000254.3(MTR):c.1033G>A (p.Val345Ile) rs145006491 0.00514
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00512
NM_014639.4(SKIC3):c.4187A>G (p.Asn1396Ser) rs116690692 0.00511
NM_024996.7(GFM1):c.568A>C (p.Met190Leu) rs75450876 0.00510
NM_002863.5(PYGL):c.176C>T (p.Thr59Met) rs150483902 0.00507
NM_030943.4(AMN):c.165G>A (p.Met55Ile) rs61731158 0.00505
NM_001457.4(FLNB):c.3785G>C (p.Gly1262Ala) rs111330368 0.00503
NM_001282225.2(ADA2):c.660C>T (p.Tyr220=) rs2231487 0.00500
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His) rs41316003 0.00500
NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp) rs142775522 0.00499
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=) rs76081119 0.00498
NM_001267550.2(TTN):c.91884A>T (p.Arg30628Ser) rs144922355 0.00496
NM_001376013.1(EPB41):c.1700G>A (p.Gly567Asp) rs138888144 0.00496
NM_203486.3(DLL3):c.1384G>A (p.Ala462Thr) rs182454962 0.00494
NM_000053.4(ATP7B):c.*15C>T rs73498144 0.00493
NM_018706.7(DHTKD1):c.1048A>G (p.Asn350Asp) rs34716552 0.00493
NM_001972.4(ELANE):c.785C>T (p.Pro262Leu) rs17216670 0.00492
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe) rs114626713 0.00491
NM_006096.4(NDRG1):c.-18-2_-18-1del rs371927413 0.00490
NM_001242957.3(MAK):c.1715T>C (p.Ile572Thr) rs79544660 0.00488
NM_001457.4(FLNB):c.7099G>A (p.Val2367Ile) rs115747856 0.00488
NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val) rs140403186 0.00485
NM_001109809.5(ZFP57):c.112C>T (p.Arg38Trp) rs114772002 0.00482
NM_019844.4(SLCO1B3):c.1347A>G (p.Ala449=) rs79382866 0.00482
NM_000393.5(COL5A2):c.2769+19A>T rs111609220 0.00481
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn) rs116567963 0.00481
NM_002386.4(MC1R):c.425G>A (p.Arg142His) rs11547464 0.00480
NM_003126.4(SPTA1):c.5834-15G>A rs192889943 0.00480
NM_000071.3(CBS):c.531+11G>A rs186114513 0.00479
NM_006363.6(SEC23B):c.1649G>A (p.Arg550Gln) rs111572459 0.00474
NM_001142864.4(PIEZO1):c.7240G>A (p.Asp2414Asn) rs58548913 0.00473
NM_001142864.4(PIEZO1):c.5694G>C (p.Glu1898Asp) rs201829917 0.00472
NM_172201.2(KCNE2):c.25C>G (p.Gln9Glu) rs16991652 0.00468
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys) rs115321485 0.00466
NM_001148.6(ANK2):c.9061G>A (p.Ala3021Thr) rs74348333 0.00465
NM_000476.3(AK1):c.44-16G>A rs74522986 0.00464
NM_001297.5(CNGB1):c.-47A>G rs186471030 0.00462
NM_001364905.1(LRBA):c.3826-5A>G rs114629781 0.00462
NM_000243.3(MEFV):c.1356+31G>T rs142775938 0.00459
NM_000243.3(MEFV):c.1760-4G>A rs79662406 0.00459
NM_001127671.2(LIFR):c.2591+17T>C rs73077453 0.00459
NM_012186.3(FOXE3):c.587G>C (p.Gly196Ala) rs281865461 0.00458
NM_002878.4(RAD51D):c.695G>A (p.Arg232Gln) rs28363283 0.00457
NM_006031.6(PCNT):c.9099+12G>A rs140828051 0.00457
NM_003126.4(SPTA1):c.3160A>T (p.Thr1054Ser) rs145054175 0.00453
NM_006904.7(PRKDC):c.10684T>A (p.Leu3562Met) rs8178232 0.00453
NM_000311.5(PRNP):c.424G>A (p.Gly142Ser) rs150351644 0.00451
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_001142864.4(PIEZO1):c.1199G>A (p.Arg400Gln) rs139100986 0.00450
NM_001277115.2(DNAH11):c.9435G>A (p.Thr3145=) rs72657379 0.00449
NM_000342.4(SLC4A1):c.12G>A (p.Leu4=) rs115901854 0.00447
NM_002769.5(PRSS1):c.567T>C (p.Leu189=) rs377124851 0.00444
NM_014822.4(SEC24D):c.2536A>G (p.Met846Val) rs34510328 0.00443
NM_020631.6(PLEKHG5):c.2581C>T (p.Arg861Cys) rs148560273 0.00443
NM_030973.4(MED25):c.1004C>T (p.Ala335Val) rs145770066 0.00443
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=) rs41300676 0.00441
NM_001377.3(DYNC2H1):c.7319C>T (p.Thr2440Met) rs146569005 0.00441
NM_002234.4(KCNA5):c.929C>T (p.Pro310Leu) rs17215402 0.00439
NM_000188.3(HK1):c.1515C>T (p.Asn505=) rs140498607 0.00438
NM_019844.4(SLCO1B3):c.69C>T (p.Arg23=) rs149944473 0.00438
NM_006031.6(PCNT):c.4285C>T (p.Arg1429Cys) rs62224222 0.00437
NM_000552.5(VWF):c.1037C>T (p.Thr346Ile) rs111971143 0.00436
NM_001134363.3(RBM20):c.2655+15A>G rs187915202 0.00436
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927 0.00435
NM_003126.4(SPTA1):c.6850G>A (p.Asp2284Asn) rs138732899 0.00433
NM_021254.4(CFAP298):c.622G>A (p.Val208Met) rs61735781 0.00433
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) rs151117904 0.00431
NM_020778.5(ALPK3):c.1522T>G (p.Cys508Gly) rs114207635 0.00431
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) rs74085882 0.00430
NM_000316.3(PTH1R):c.436C>A (p.Arg146=) rs143863124 0.00428
NM_001277115.2(DNAH11):c.9097A>G (p.Ile3033Val) rs72657373 0.00428
NM_001142864.4(PIEZO1):c.4866G>A (p.Glu1622=) rs60253125 0.00426
NM_002296.4(LBR):c.1609T>G (p.Ser537Ala) rs80299691 0.00426
NM_003126.4(SPTA1):c.1078A>T (p.Thr360Ser) rs34133563 0.00424
NM_018706.7(DHTKD1):c.1079T>C (p.Val360Ala) rs147571909 0.00424
NM_000492.4(CFTR):c.-226G>T rs73717525 0.00422
NM_001303256.3(MORC2):c.1737+4C>T rs5997814 0.00421
NM_003126.4(SPTA1):c.3398G>C (p.Arg1133Pro) rs35733059 0.00420
NM_020800.3(IFT80):c.371-10C>A rs188321058 0.00420
NM_000254.3(MTR):c.155G>A (p.Arg52Gln) rs12749581 0.00417
NM_000371.4(TTR):c.201-32C>T rs189979926 0.00417
NM_000435.3(NOTCH3):c.4679G>C (p.Arg1560Pro) rs78501403 0.00417
NM_015512.5(DNAH1):c.933C>T (p.Asp311=) rs199505182 0.00414
NM_003051.4(SLC16A1):c.973A>G (p.Ile325Val) rs116216229 0.00409
NM_005529.7(HSPG2):c.5756G>A (p.Arg1919His) rs62642521 0.00408
NM_000037.4(ANK1):c.1506C>T (p.Ala502=) rs34387324 0.00407
NM_001291303.3(FAT4):c.10853C>T (p.Thr3618Met) rs111423173 0.00407
NM_001530.4(HIF1A):c.1253C>T (p.Thr418Ile) rs41508050 0.00407
NM_024577.4(SH3TC2):c.1403C>T (p.Ala468Val) rs6874630 0.00407
NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys) rs151155518 0.00406
NM_001142864.4(PIEZO1):c.4439-15G>T rs141469687 0.00406
NM_001943.5(DSG2):c.266A>G (p.Tyr89Cys) rs2230232 0.00406
NM_005529.7(HSPG2):c.4132G>A (p.Glu1378Lys) rs62642525 0.00406
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln) rs72647894 0.00404
NM_021957.4(GYS2):c.2054T>C (p.Phe685Ser) rs117474773 0.00404
NM_001142864.4(PIEZO1):c.3456-10G>A rs188761308 0.00403
NM_005529.7(HSPG2):c.3847G>A (p.Val1283Ile) rs62642527 0.00403
NM_000254.3(MTR):c.2815G>C (p.Gly939Arg) rs113042166 0.00401
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=) rs56169243 0.00400
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239 0.00399
NM_003954.5(MAP3K14):c.2434-10G>A rs34836788 0.00399
NM_001142864.4(PIEZO1):c.1281G>A (p.Ala427=) rs146687530 0.00396
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) rs150170988 0.00396
NM_000188.3(HK1):c.691+13C>T rs41279654 0.00393
NM_000254.3(MTR):c.669+20C>T rs200305844 0.00392
NM_144687.4(NLRP12):c.910C>T (p.His304Tyr) rs141245482 0.00392
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623 0.00390
NM_001370466.1(NOD2):c.974A>G (p.His325Arg) rs5743272 0.00389
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902 0.00388
NM_000355.4(TCN2):c.89T>G (p.Leu30Arg) rs116605132 0.00388
NM_000384.3(APOB):c.606A>T (p.Glu202Asp) rs61746672 0.00387
NM_017553.3(INO80):c.2070+12T>A rs111767851 0.00386
NM_203486.3(DLL3):c.409+61G>A rs377405105 0.00384
NM_000642.3(AGL):c.3384G>A (p.Ala1128=) rs149393587 0.00383
NM_001009944.3(PKD1):c.10234C>T (p.Pro3412Ser) rs149605181 0.00383
NM_023036.6(DNAI2):c.949G>A (p.Ala317Thr) rs145798624 0.00383
NM_001042492.3(NF1):c.-22G>C rs556823296 0.00381
NM_001127671.2(LIFR):c.420G>A (p.Glu140=) rs142475175 0.00380
NM_138477.4(CDAN1):c.2738A>T (p.Gln913Leu) rs76947588 0.00380
NM_001142800.2(EYS):c.7578+18C>T rs147210136 0.00376
NM_001142864.4(PIEZO1):c.718A>G (p.Ile240Val) rs114403731 0.00374
NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp) rs201472270 0.00373
NM_005529.7(HSPG2):c.3269G>A (p.Arg1090Gln) rs78889849 0.00373
NM_017636.4(TRPM4):c.1682A>C (p.Asp561Ala) rs56355369 0.00373
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser) rs118203518 0.00372
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile) rs141856116 0.00372
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498 0.00372
NM_003850.3(SUCLA2):c.37G>A (p.Val13Met) rs35201084 0.00371
NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr) rs201593811 0.00370
NM_006129.5(BMP1):c.2234-12G>A rs200787977 0.00370
NM_000074.2(CD40LG):c.-189A>C rs184119101 0.00369
NM_174889.5(NDUFAF2):c.451G>A (p.Gly151Ser) rs9885480 0.00369
NM_001498.4(GCLC):c.1563C>T (p.Asp521=) rs2066509 0.00368
NM_003126.4(SPTA1):c.5911G>A (p.Asp1971Asn) rs116466258 0.00367
NM_001035.3(RYR2):c.13566C>T (p.Val4522=) rs57360419 0.00366
NM_002528.7(NTHL1):c.116-10C>G rs3211970 0.00366
NM_017950.4(CCDC40):c.3424T>C (p.Ser1142Pro) rs148900528 0.00366
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln) rs35336155 0.00366
NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser) rs187333111 0.00365
NM_017950.4(CCDC40):c.3349G>A (p.Glu1117Lys) rs145595957 0.00365
NM_004656.4(BAP1):c.1729+8T>C rs150945583 0.00364
NM_052854.4(CREB3L1):c.599A>T (p.Asp200Val) rs187725533 0.00364
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_019844.4(SLCO1B3):c.676C>G (p.Leu226Val) rs115227445 0.00361
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_201596.3(CACNB2):c.1488+13_1488+33dup rs757040188 0.00361
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) rs148206382 0.00359
NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala) rs141464488 0.00359
NM_001081.4(CUBN):c.1794C>T (p.Tyr598=) rs140184467 0.00358
NM_001025295.3(IFITM5):c.91C>A (p.Pro31Thr) rs146230729 0.00357
NM_001277115.2(DNAH11):c.5185C>T (p.Pro1729Ser) rs144106494 0.00357
NM_020191.4(MRPS22):c.741C>G (p.His247Gln) rs140631494 0.00357
NM_147127.5(EVC2):c.707-4G>A rs113806963 0.00357
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843 0.00356
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn) rs74447004 0.00356
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287 0.00356
NM_003978.5(PSTPIP1):c.1112C>T (p.Thr371Ile) rs34908107 0.00355
NM_201596.3(CACNB2):c.873G>A (p.Leu291=) rs138423466 0.00355
NM_000431.4(MVK):c.769-7T>G rs104895331 0.00354
NM_001013703.4(EIF2AK4):c.2020C>T (p.Pro674Ser) rs201342617 0.00354
NM_001379180.1(ESRRB):c.*1474T>C rs188462546 0.00354
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) rs56002719 0.00354
NM_000098.3(CPT2):c.1763C>G (p.Ser588Cys) rs1871748 0.00353
NM_002907.4(RECQL):c.1483G>C (p.Asp495His) rs6499 0.00353
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826 0.00353
NM_012073.5(CCT5):c.1059G>A (p.Leu353=) rs114634318 0.00353
NM_000552.5(VWF):c.7940C>T (p.Thr2647Met) rs61751302 0.00352
NM_001142864.4(PIEZO1):c.1297-6G>A rs111945967 0.00352
NM_000459.5(TEK):c.1346A>G (p.Asn449Ser) rs149684174 0.00351
NM_005529.7(HSPG2):c.2850T>C (p.Pro950=) rs115322282 0.00351
NM_001195248.2(APTX):c.457A>G (p.Lys153Glu) rs34634937 0.00350
NM_012186.3(FOXE3):c.898A>G (p.Ser300Gly) rs552420470 0.00350
NM_031229.4(RBCK1):c.756+3G>A rs146804136 0.00350
NM_138477.4(CDAN1):c.309G>T (p.Pro103=) rs575562332 0.00350
NM_000188.3(HK1):c.828G>A (p.Glu276=) rs41279658 0.00349
NM_000447.3(PSEN2):c.211C>T (p.Arg71Trp) rs140501902 0.00349
NM_001105206.3(LAMA4):c.2810A>G (p.Glu937Gly) rs35605307 0.00349
NM_182925.5(FLT4):c.1921C>T (p.Pro641Ser) rs55667289 0.00349
NM_000208.4(INSR):c.2946-14T>C rs138585749 0.00347
NM_000355.4(TCN2):c.877C>T (p.Leu293=) rs45624233 0.00347
NM_005529.7(HSPG2):c.11294G>A (p.Ser3765Asn) rs114223739 0.00347
NM_015046.7(SETX):c.472T>G (p.Leu158Val) rs145438764 0.00347
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg) rs34534613 0.00346
NM_002863.5(PYGL):c.424+6T>A rs146741789 0.00346
NM_006231.4(POLE):c.5135C>T (p.Ala1712Val) rs5744950 0.00346
NM_138477.4(CDAN1):c.237G>C (p.Ser79=) rs180857061 0.00344
NM_182943.3(PLOD2):c.652A>G (p.Ile218Val) rs145809663 0.00344
NM_000222.3(KIT):c.532G>A (p.Ala178Thr) rs115585711 0.00342
NM_000342.4(SLC4A1):c.216G>T (p.Glu72Asp) rs13306788 0.00342
NM_004637.6(RAB7A):c.495G>A (p.Ala165=) rs146566121 0.00341
NM_000294.3(PHKG2):c.96-10G>T rs74015042 0.00340
NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys) rs5743277 0.00340
NM_000243.3(MEFV):c.333G>A (p.Gly111=) rs61732425 0.00339
NM_001303256.3(MORC2):c.2747+5_2747+6del rs67357185 0.00339
NM_080680.3(COL11A2):c.2186G>A (p.Arg729Gln) rs61730262 0.00339
NM_001142864.4(PIEZO1):c.1072C>T (p.Leu358=) rs145579632 0.00338
NM_004064.5(CDKN1B):c.577C>T (p.Leu193Phe) rs73281150 0.00338
NM_005472.5(KCNE3):c.248G>A (p.Arg83His) rs17215437 0.00338
NM_001009944.3(PKD1):c.12826C>T (p.Arg4276Trp) rs114251396 0.00335
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=) rs118126378 0.00334
NM_001267550.2(TTN):c.10114+5G>A rs115985443 0.00334
NM_181426.2(CCDC39):c.1073C>T (p.Thr358Ile) rs183413880 0.00334
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser) rs199689193 0.00333
NM_005529.7(HSPG2):c.1959A>C (p.Gln653His) rs62642535 0.00333
NM_006363.6(SEC23B):c.221+76A>G rs183784857 0.00333
NM_133379.5(TTN):c.11741C>G (p.Thr3914Arg) rs116593093 0.00333
NM_000142.5(FGFR3):c.1535-8G>T rs111460786 0.00332
NM_133379.5(TTN):c.12067G>A (p.Gly4023Arg) rs143253411 0.00332
NM_001277115.2(DNAH11):c.12521T>G (p.Leu4174Arg) rs144474011 0.00330
NM_000398.7(CYB5R3):c.45A>G (p.Pro15=) rs111649710 0.00329
NM_012186.3(FOXE3):c.601G>A (p.Val201Met) rs530072475 0.00329
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756 0.00328
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300 0.00328
NM_001009944.3(PKD1):c.10304G>A (p.Arg3435Gln) rs140189010 0.00328
NM_145045.5(ODAD3):c.254G>A (p.Arg85Gln) rs143192349 0.00328
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_001142864.4(PIEZO1):c.5461G>A (p.Gly1821Ser) rs78574543 0.00327
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187 0.00327
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met) rs143669458 0.00326
NM_003126.4(SPTA1):c.4477C>T (p.Arg1493Trp) rs35237700 0.00325
NM_000038.6(APC):c.4420G>A (p.Ala1474Thr) rs139387758 0.00324
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp) rs143690392 0.00324
NM_001142864.4(PIEZO1):c.3928G>A (p.Val1310Ile) rs34606201 0.00322
NM_019594.4(LRRC8A):c.1699G>A (p.Val567Met) rs143836544 0.00321
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783 0.00320
NM_000436.4(OXCT1):c.650G>T (p.Arg217Leu) rs142383658 0.00320
NM_001177316.2(SLC34A3):c.1140C>T (p.Leu380=) rs113568956 0.00320
NM_021939.4(FKBP10):c.1307T>C (p.Ile436Thr) rs61749879 0.00320
NM_147127.5(EVC2):c.2648C>T (p.Ala883Val) rs140951974 0.00320
NM_147127.5(EVC2):c.864C>T (p.Asn288=) rs144730069 0.00320
NM_001006658.3(CR2):c.2611G>T (p.Val871Leu) rs144572703 0.00319
NM_015512.5(DNAH1):c.569T>C (p.Ile190Thr) rs61729450 0.00319
NM_001355436.2(SPTB):c.4699G>C (p.Asp1567His) rs138126360 0.00318
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) rs35136134 0.00318
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278 0.00318
NM_000238.4(KCNH2):c.542G>A (p.Arg181Gln) rs41308954 0.00317
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln) rs55762754 0.00317
NM_001377.3(DYNC2H1):c.8881G>A (p.Ala2961Thr) rs199568537 0.00317
NM_015512.5(DNAH1):c.11136G>A (p.Arg3712=) rs147264705 0.00317
NM_203486.3(DLL3):c.1307G>A (p.Arg436His) rs199831437 0.00317
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys) rs61733519 0.00316
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val) rs41306397 0.00315
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688 0.00315
NM_000398.7(CYB5R3):c.432C>T (p.Gly144=) rs112669378 0.00315
NM_001267550.2(TTN):c.25921+20G>A rs148460010 0.00315
NM_015512.5(DNAH1):c.1244A>G (p.Lys415Arg) rs61729402 0.00315
NM_002103.5(GYS1):c.555C>T (p.Gly185=) rs2229612 0.00314
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg) rs115545935 0.00314
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln) rs76646638 0.00314
NM_001267550.2(TTN):c.31847-17A>G rs72650025 0.00313
NM_000440.3(PDE6A):c.1546C>G (p.Leu516Val) rs61733362 0.00312
NM_000540.3(RYR1):c.9685+16C>T rs45496799 0.00312
NM_138477.4(CDAN1):c.2263-5G>A rs190802841 0.00311
NM_000089.4(COL1A2):c.122G>A (p.Arg41His) rs139528613 0.00310
NM_003126.4(SPTA1):c.679G>A (p.Glu227Lys) rs199598260 0.00310
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_000371.4(TTR):c.336+19G>A rs75517067 0.00309
NM_018706.7(DHTKD1):c.209C>G (p.Ala70Gly) rs34644609 0.00309
NM_138477.4(CDAN1):c.3666T>C (p.Thr1222=) rs77191722 0.00309
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134 0.00309
NM_170707.4(LMNA):c.811-13T>A rs80356809 0.00309
NM_001297.5(CNGB1):c.1626C>T (p.Thr542=) rs148735841 0.00308
NM_001277115.2(DNAH11):c.9935A>T (p.Asp3312Val) rs72657389 0.00307
NM_003126.4(SPTA1):c.793A>G (p.Asn265Asp) rs183647059 0.00307
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe) rs139913632 0.00307
NM_000243.3(MEFV):c.-15C>G rs11466015 0.00306
NM_001498.4(GCLC):c.1478-16C>A rs185146268 0.00306
NM_001853.4(COL9A3):c.1427C>G (p.Pro476Arg) rs142066316 0.00306
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285 0.00306
NM_001277115.2(DNAH11):c.10391C>T (p.Thr3464Ile) rs141112088 0.00305
NM_005529.7(HSPG2):c.10937G>A (p.Arg3646His) rs112062179 0.00305
NM_000037.4(ANK1):c.5544+46G>A rs114905632 0.00304
NM_006343.3(MERTK):c.2851G>A (p.Ala951Thr) rs148261231 0.00304
NM_015512.5(DNAH1):c.8266G>A (p.Val2756Met) rs61749019 0.00304
NM_000035.4(ALDOB):c.156T>G (p.Thr52=) rs149671008 0.00302
NM_015512.5(DNAH1):c.1981A>G (p.Met661Val) rs61734653 0.00302
NM_030777.4(SLC2A10):c.674G>A (p.Arg225His) rs34295241 0.00302
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) rs145649423 0.00301
NM_005529.7(HSPG2):c.6724+50C>T rs72866974 0.00301
NM_001039213.4(CEACAM16):c.738G>A (p.Thr246=) rs199779296 0.00300
NM_001130823.3(DNMT1):c.891+8C>T rs117294281 0.00299
NM_002615.7(SERPINF1):c.85-14C>T rs200755661 0.00299
NM_003978.5(PSTPIP1):c.908C>T (p.Pro303Leu) rs189773500 0.00298
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_024577.4(SH3TC2):c.238G>A (p.Ala80Thr) rs112507765 0.00297
NM_001034850.3(RETREG1):c.607G>A (p.Val203Met) rs143878016 0.00296
NM_001142864.4(PIEZO1):c.3667G>A (p.Val1223Ile) rs185326407 0.00296
NM_001199397.3(NEK1):c.3222+64T>A rs72691050 0.00296
NM_031475.3(ESPN):c.1386A>G (p.Val462=) rs150033799 0.00296
NM_138477.4(CDAN1):c.1967C>G (p.Thr656Ser) rs139202766 0.00296
NM_001267550.2(TTN):c.2765G>A (p.Arg922His) rs56046320 0.00295
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) rs147390654 0.00294
NM_005591.4(MRE11):c.121G>A (p.Asp41Asn) rs116679717 0.00293
NM_006231.4(POLE):c.16G>C (p.Gly6Arg) rs202220778 0.00293
NM_000178.4(GSS):c.941C>T (p.Pro314Leu) rs75863437 0.00292
NM_020778.5(ALPK3):c.1382G>A (p.Gly461Asp) rs34409363 0.00292
NM_024422.6(DSC2):c.1264-5C>T rs183614856 0.00292
NM_201596.3(CACNB2):c.804+653G>A rs142899184 0.00292
NM_001370466.1(NOD2):c.485C>T (p.Thr162Met) rs61755182 0.00291
NM_003126.4(SPTA1):c.1731G>T (p.Leu577Phe) rs34211240 0.00291
NM_005529.7(HSPG2):c.9514-3C>T rs114851424 0.00291
NM_001009944.3(PKD1):c.6488G>A (p.Arg2163Gln) rs145217118 0.00290
NM_001267550.2(TTN):c.69716-5C>G rs72646886 0.00290
NM_020661.4(AICDA):c.74G>A (p.Arg25His) rs61730095 0.00289
NM_001291303.3(FAT4):c.4303A>G (p.Ile1435Val) rs142747281 0.00288
NM_001322934.2(NFKB2):c.21+13G>A rs199513883 0.00288
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684 0.00288
NM_003114.5(SPAG1):c.1414A>G (p.Ile472Val) rs373038988 0.00288
NM_138477.4(CDAN1):c.2067G>A (p.Ala689=) rs147161012 0.00288
NM_020529.3(NFKBIA):c.581G>C (p.Gly194Ala) rs148656104 0.00287
NM_147127.5(EVC2):c.122C>A (p.Pro41His) rs544397395 0.00286
NM_001114134.2(EPB42):c.1279C>T (p.Arg427Cys) rs45594632 0.00285
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu) rs2285644 0.00284
NM_002471.4(MYH6):c.2071G>A (p.Val691Ile) rs148915045 0.00284
NM_003978.5(PSTPIP1):c.236C>T (p.Ser79Phe) rs77026017 0.00284
NM_000022.4(ADA):c.162G>A (p.Lys54=) rs45557242 0.00282
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317 0.00282
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His) rs181104321 0.00282
NM_003200.5(TCF3):c.1154G>A (p.Gly385Asp) rs117006898 0.00282
NM_016373.4(WWOX):c.816G>T (p.Leu272Phe) rs186745328 0.00280
NM_001184.4(ATR):c.7504-16A>G rs111927479 0.00279
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) rs71524349 0.00279
NM_020366.4(RPGRIP1):c.218+13C>G rs200225522 0.00279
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00278
NM_001369.3(DNAH5):c.299G>C (p.Gly100Ala) rs144236383 0.00278
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) rs141423593 0.00278
NM_032578.4(MYPN):c.1079-18T>C rs114932559 0.00278
NM_000053.4(ATP7B):c.4125-23G>A rs201152941 0.00277
NM_001142864.4(PIEZO1):c.835G>A (p.Gly279Ser) rs188815734 0.00277
NM_003640.5(ELP1):c.286A>G (p.Ser96Gly) rs35942802 0.00277
NM_145045.5(ODAD3):c.1203G>A (p.Arg401=) rs199934107 0.00277
NM_000152.5(GAA):c.1552-13G>A rs111261964 0.00276
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862 0.00276
NM_001365088.1(SLC12A6):c.271+17825C>T rs150751809 0.00276
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu) rs34120922 0.00276
NM_003172.4(SURF1):c.54+10G>A rs587598397 0.00276
NM_182961.4(SYNE1):c.2177A>G (p.Glu726Gly) rs35297226 0.00276
NM_014845.6(FIG4):c.173A>G (p.Tyr58Cys) rs145337669 0.00275
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val) rs145207584 0.00275
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) rs34004222 0.00274
NM_006343.3(MERTK):c.2593C>T (p.Arg865Trp) rs2230516 0.00274
NM_001018005.2(TPM1):c.180C>T (p.Tyr60=) rs17850194 0.00273
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708 0.00272
NM_016938.5(EFEMP2):c.368-11G>A rs181514768 0.00272
NM_181078.3(IL21R):c.1545C>G (p.Pro515=) rs74016079 0.00272
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg) rs45550635 0.00271
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=) rs138198461 0.00271
NM_002439.5(MSH3):c.2511G>A (p.Leu837=) rs149628160 0.00270
NM_018979.4(WNK1):c.5583+3A>G rs72650758 0.00270
NM_147127.5(EVC2):c.3659+8T>C rs200119306 0.00270
NM_001457.4(FLNB):c.362A>T (p.Tyr121Phe) rs147846832 0.00269
NM_002778.4(PSAP):c.16C>T (p.Leu6Phe) rs148279196 0.00269
NM_014391.3(ANKRD1):c.319G>T (p.Val107Leu) rs114435632 0.00269
NM_018979.4(WNK1):c.5281-4G>A rs72650740 0.00269
NM_000051.4(ATM):c.7630-17T>C rs116047570 0.00268
NM_006182.4(DDR2):c.1382C>T (p.Ser461Leu) rs140710321 0.00268
NM_194248.3(OTOF):c.2215-80T>C rs143141993 0.00268
NM_000384.3(APOB):c.8462C>T (p.Pro2821Leu) rs72653095 0.00267
NM_001009944.3(PKD1):c.8119G>A (p.Val2707Met) rs139507058 0.00267
NM_001244008.2(KIF1A):c.3816+18C>T rs201725464 0.00267
NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr) rs146608896 0.00267
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) rs188807564 0.00267
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249 0.00267
NM_024753.5(TTC21B):c.3416T>C (p.Val1139Ala) rs149454830 0.00267
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser) rs141330687 0.00267
NM_006899.5(IDH3B):c.74G>A (p.Gly25Asp) rs113021673 0.00266
NM_001358263.1(HK1):c.53T>C (p.Leu18Pro) rs79002951 0.00265
NM_006031.6(PCNT):c.1784C>T (p.Ala595Val) rs143028464 0.00265
NM_019844.4(SLCO1B3):c.1614T>C (p.Val538=) rs77851390 0.00265
NM_144687.4(NLRP12):c.2701G>C (p.Val901Leu) rs104895568 0.00265
NM_003126.4(SPTA1):c.5838T>C (p.Asp1946=) rs200330662 0.00264
NM_014639.4(SKIC3):c.4344A>G (p.Leu1448=) rs139074002 0.00264
NM_000557.5(GDF5):c.388G>A (p.Gly130Arg) rs114550865 0.00263
NM_001267550.2(TTN):c.70952T>G (p.Ile23651Ser) rs149075285 0.00263
NM_022041.4(GAN):c.1502+11A>G rs143413333 0.00263
NM_001876.4(CPT1A):c.302C>T (p.Thr101Met) rs61731903 0.00262
NM_000037.4(ANK1):c.5097-34C>T rs185434561 0.00261
NM_001267550.2(TTN):c.64762G>A (p.Gly21588Arg) rs181717727 0.00261
NM_005529.7(HSPG2):c.7511G>A (p.Arg2504His) rs62642517 0.00261
NM_012452.3(TNFRSF13B):c.215G>A (p.Arg72His) rs55916807 0.00261
NM_001457.4(FLNB):c.292+14C>G rs200721532 0.00260
NM_003482.4(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869 0.00260
NM_000090.4(COL3A1):c.3039+16T>G rs41264443 0.00259
NM_000431.4(MVK):c.238G>A (p.Val80Ile) rs76914224 0.00259
NM_001903.5(CTNNA1):c.655C>T (p.Pro219Ser) rs28363406 0.00259
NM_002230.4(JUP):c.2025T>C (p.His675=) rs140670556 0.00259
NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile) rs143157673 0.00258
NM_001077350.3(NPRL3):c.1024G>T (p.Val342Leu) rs11558704 0.00258
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=) rs72646890 0.00258
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) rs62641689 0.00258
NM_006182.4(DDR2):c.1504+11T>C rs77385055 0.00258
NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser) rs41281310 0.00258
NM_133379.5(TTN):c.16160G>A (p.Cys5387Tyr) rs72648913 0.00258
NM_000517.6(HBA2):c.300+64A>G rs111264741 0.00257
NM_002972.4(SBF1):c.1668T>C (p.His556=) rs139208738 0.00257
NM_006031.6(PCNT):c.3748C>T (p.Arg1250Trp) rs117987006 0.00257
NM_000541.5(SAG):c.734-18C>A rs139840815 0.00256
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser) rs138824667 0.00256
NM_001267550.2(TTN):c.88708A>G (p.Ile29570Val) rs139506970 0.00255
NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr) rs202233363 0.00255
NM_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00255
NM_000018.4(ACADVL):c.1839G>A (p.Arg613=) rs79125791 0.00254
NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr) rs114015043 0.00254
NM_000037.4(ANK1):c.981C>T (p.Tyr327=) rs61758867 0.00253
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_002691.4(POLD1):c.433G>A (p.Ala145Thr) rs137953986 0.00253
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00252
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala) rs147356378 0.00252
NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr) rs72646882 0.00252
NM_002972.4(SBF1):c.898-18G>A rs369814596 0.00252
NM_005548.3(KARS1):c.1674C>T (p.Leu558=) rs143267922 0.00252
NM_022114.4(PRDM16):c.100G>A (p.Ala34Thr) rs187194973 0.00252
NM_001267550.2(TTN):c.97490T>C (p.Ile32497Thr) rs55660660 0.00251
NM_001854.4(COL11A1):c.4185C>T (p.Val1395=) rs112577505 0.00251
NM_024301.5(FKRP):c.822C>G (p.Ile274Met) rs77138370 0.00251
NM_001267550.2(TTN):c.83740A>G (p.Thr27914Ala) rs188370772 0.00250
NM_002335.4(LRP5):c.4278T>C (p.Tyr1426=) rs142328132 0.00250
NM_006031.6(PCNT):c.9707G>A (p.Arg3236Gln) rs113591604 0.00249
NM_001360.3(DHCR7):c.399C>T (p.Ala133=) rs147424205 0.00248
NM_002615.7(SERPINF1):c.202G>C (p.Val68Leu) rs143827025 0.00248
NM_025132.4(WDR19):c.3183+9G>A rs138318063 0.00248
NM_001853.4(COL9A3):c.1549-4C>A rs190389066 0.00247
NM_002661.5(PLCG2):c.3414A>G (p.Glu1138=) rs61755443 0.00247
NM_022489.4(INF2):c.2458C>T (p.Arg820Trp) rs79327775 0.00247
NM_000051.4(ATM):c.2921+19dup rs56112367 0.00245
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141 0.00245
NM_001127671.2(LIFR):c.2447A>G (p.Asp816Gly) rs74856317 0.00245
NM_017950.4(CCDC40):c.334A>G (p.Thr112Ala) rs201709592 0.00245
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513 0.00243
NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys) rs145040928 0.00243
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260 0.00243
NM_001711.6(BGN):c.357C>T (p.Leu119=) rs146322407 0.00243
NM_003072.5(SMARCA4):c.2275-3C>A rs117611401 0.00243
NM_003126.4(SPTA1):c.4302G>A (p.Lys1434=) rs77182042 0.00243
NM_005529.7(HSPG2):c.10677C>T (p.Asn3559=) rs138049720 0.00243
NM_000384.3(APOB):c.4825T>C (p.Leu1609=) rs72653083 0.00242
NM_001852.4(COL9A2):c.1982C>T (p.Pro661Leu) rs150687987 0.00242
NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser) rs149547196 0.00241
NM_000552.5(VWF):c.114C>T (p.Phe38=) rs2229443 0.00241
NM_002234.4(KCNA5):c.919C>T (p.Pro307Ser) rs17215409 0.00241
NM_015512.5(DNAH1):c.7193G>A (p.Arg2398His) rs201299120 0.00241
NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr) rs138161346 0.00241
NM_000384.3(APOB):c.3843C>T (p.Ser1281=) rs72653079 0.00240
NM_000557.5(GDF5):c.652A>C (p.Arg218=) rs116467702 0.00240
NM_001042475.3(CEP85L):c.1020+17468G>A rs185846037 0.00240
NM_006231.4(POLE):c.4184A>G (p.Tyr1395Cys) rs5744933 0.00240
NM_004444.5(EPHB4):c.1144G>A (p.Gly382Ser) rs114926839 0.00239
NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln) rs34066624 0.00238
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys) rs72629785 0.00238
NM_006031.6(PCNT):c.8224G>C (p.Glu2742Gln) rs35557109 0.00238
NM_181426.2(CCDC39):c.2299T>C (p.Leu767=) rs200913298 0.00238
NM_000316.3(PTH1R):c.128G>A (p.Arg43His) rs141466964 0.00237
NM_001291303.3(FAT4):c.10390A>G (p.Ile3464Val) rs147872710 0.00237
NM_002661.5(PLCG2):c.714C>T (p.Ala238=) rs138981519 0.00237
NM_005529.7(HSPG2):c.10110G>A (p.Lys3370=) rs141963344 0.00237
NM_000557.5(GDF5):c.462C>A (p.Pro154=) rs150686636 0.00236
NM_001291303.3(FAT4):c.1128G>A (p.Val376=) rs202216461 0.00236
NM_006269.2(RP1):c.3132A>C (p.Lys1044Asn) rs35234349 0.00236
NM_015627.3(LDLRAP1):c.713G>A (p.Arg238Gln) rs148579379 0.00236
NM_001267550.2(TTN):c.101064T>C (p.Asp33688=) rs368168812 0.00235
NM_001267550.2(TTN):c.106857C>T (p.Asn35619=) rs116604145 0.00235
NM_003073.5(SMARCB1):c.628+13C>T rs184021903 0.00235
NM_004168.4(SDHA):c.313-19G>T rs185555941 0.00235
NM_001267550.2(TTN):c.96108G>A (p.Val32036=) rs372773283 0.00234
NM_001844.5(COL2A1):c.3151G>A (p.Ala1051Thr) rs41272041 0.00234
NM_182925.5(FLT4):c.4006G>A (p.Glu1336Lys) rs201796032 0.00234
NM_018112.3(TMEM38B):c.799G>A (p.Val267Ile) rs149026877 0.00233
NM_025215.6(PUS1):c.1214C>T (p.Thr405Met) rs149378338 0.00233
NM_001037.5(SCN1B):c.267C>T (p.Arg89=) rs140949982 0.00232
NM_001173467.3(SP7):c.864G>A (p.Leu288=) rs113295055 0.00232
NM_002471.4(MYH6):c.1275C>T (p.Ile425=) rs61742470 0.00232
NM_004239.4(TRIP11):c.5137G>C (p.Glu1713Gln) rs137974620 0.00232
NM_004304.5(ALK):c.1943C>T (p.Thr648Ile) rs116202066 0.00232
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala) rs112592855 0.00231
NM_001853.4(COL9A3):c.755G>A (p.Arg252Gln) rs139573483 0.00231
NM_002473.6(MYH9):c.7C>G (p.Gln3Glu) rs56200894 0.00231
NM_003000.3(SDHB):c.170A>G (p.His57Arg) rs35962811 0.00231
NM_005045.4(RELN):c.7438G>A (p.Gly2480Ser) rs150236371 0.00231
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925 0.00230
NM_001243133.2(NLRP3):c.1920C>T (p.Phe640=) rs34698071 0.00230
NM_001303256.3(MORC2):c.63A>G (p.Thr21=) rs73156742 0.00230
NM_001715.3(BLK):c.674C>T (p.Pro225Leu) rs144592409 0.00230
NM_001142864.4(PIEZO1):c.4580G>A (p.Arg1527His) rs148870219 0.00229
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) rs72677231 0.00229
NM_002972.4(SBF1):c.4927C>A (p.Pro1643Thr) rs202049257 0.00229
NM_000069.3(CACNA1S):c.1711G>A (p.Val571Ile) rs114191482 0.00228
NM_001031834.1(RAB40AL):c.257G>A (p.Gly86Asp) rs146065311 0.00228
NM_001105206.3(LAMA4):c.5450T>C (p.Ile1817Thr) rs144482486 0.00228
NM_001358263.1(HK1):c.28-3347T>A rs186567171 0.00228
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=) rs116587608 0.00227
NM_000448.3(RAG1):c.2571C>T (p.Ala857=) rs141560248 0.00227
NM_001282225.2(ADA2):c.1045G>A (p.Val349Ile) rs74317375 0.00227
NM_182925.5(FLT4):c.3908G>C (p.Gly1303Ala) rs146806202 0.00227
NM_000492.4(CFTR):c.3367+37G>A rs137854873 0.00226
NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val) rs141625744 0.00226
NM_012092.4(ICOS):c.451G>C (p.Val151Leu) rs76778263 0.00226
NM_001114134.2(EPB42):c.894C>T (p.Thr298=) rs35719500 0.00225
NM_001142864.4(PIEZO1):c.7426C>T (p.Arg2476Cys) rs144035770 0.00225
NM_032578.4(MYPN):c.2236A>G (p.Thr746Ala) rs147287437 0.00225
NM_173560.4(RFX6):c.2399G>C (p.Gly800Ala) rs138343620 0.00225
NM_001267550.2(TTN):c.36509A>T (p.Glu12170Val) rs200840285 0.00224
NM_002972.4(SBF1):c.1968+15G>A rs41281539 0.00224
NM_003978.5(PSTPIP1):c.786C>T (p.Asp262=) rs35860563 0.00224
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu) rs114137983 0.00224
NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp) rs3729799 0.00223
NM_001267550.2(TTN):c.76722T>C (p.Tyr25574=) rs55696153 0.00223
NM_000435.3(NOTCH3):c.2507C>T (p.Thr836Ile) rs34338511 0.00222
NM_000552.5(VWF):c.3089A>G (p.Gln1030Arg) rs145125264 0.00222
NM_001033855.3(DCLRE1C):c.1008C>T (p.Asn336=) rs115524993 0.00222
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe) rs138576504 0.00222
NM_001355436.2(SPTB):c.1896A>G (p.Gln632=) rs74056006 0.00222
NM_002972.4(SBF1):c.868G>A (p.Ala290Thr) rs201776298 0.00222
NM_006506.5(RASA2):c.1020+20G>A rs113251297 0.00222
NM_006587.4(CORIN):c.2047A>T (p.Ser683Cys) rs144722161 0.00222
NM_025132.4(WDR19):c.1915A>G (p.Ser639Gly) rs150649460 0.00222
NM_001375808.2(LPIN2):c.1735T>C (p.Ser579Pro) rs150022314 0.00221
NM_003098.3(SNTA1):c.1426-5T>C rs183939417 0.00221
NM_006031.6(PCNT):c.4142C>T (p.Ala1381Val) rs114383833 0.00221
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg) rs41278630 0.00221
NM_002529.4(NTRK1):c.254G>A (p.Arg85His) rs79678945 0.00220
NM_005051.3(QARS1):c.25C>A (p.Leu9Ile) rs62621067 0.00220
NM_005529.7(HSPG2):c.9789C>A (p.Leu3263=) rs137921473 0.00220
NM_006363.6(SEC23B):c.689+10C>T rs200020725 0.00220
NM_014336.5(AIPL1):c.516T>C (p.His172=) rs62637017 0.00220
NM_021254.4(CFAP298):c.77A>C (p.Glu26Ala) rs138178722 0.00220
NM_080680.3(COL11A2):c.3583-5T>C rs183536190 0.00219
NM_000316.3(PTH1R):c.299G>A (p.Gly100Asp) rs41290646 0.00218
NM_001079802.2(FKTN):c.167G>A (p.Arg56His) rs146951171 0.00218
NM_001267550.2(TTN):c.57683G>A (p.Arg19228His) rs114711705 0.00218
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn) rs10979599 0.00218
NM_177438.3(DICER1):c.485G>A (p.Gly162Asp) rs142815547 0.00218
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro) rs11466018 0.00217
NM_001291303.3(FAT4):c.524G>T (p.Arg175Leu) rs143534324 0.00217
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_000152.5(GAA):c.2647-8C>T rs139201641 0.00216
NM_001177316.2(SLC34A3):c.1585A>T (p.Ile529Phe) rs140639805 0.00216
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804 0.00216
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln) rs137934837 0.00216
NM_001177316.2(SLC34A3):c.1454G>A (p.Arg485His) rs138872455 0.00215
NM_001267550.2(TTN):c.36347A>G (p.Glu12116Gly) rs200513156 0.00215
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=) rs137932254 0.00215
NM_014915.3(ANKRD26):c.2679A>G (p.Gln893=) rs61730098 0.00215
NM_001267550.2(TTN):c.34505G>T (p.Gly11502Val) rs190209925 0.00214
NM_001395413.1(POR):c.1239+28C>T rs72557932 0.00214
NM_000435.3(NOTCH3):c.2300G>A (p.Arg767His) rs75291244 0.00213
NM_001370298.3(FGD4):c.647C>T (p.Thr216Ile) rs145115430 0.00213
NM_001377229.1(DISP1):c.275C>G (p.Thr92Ser) rs141066173 0.00213
NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro) rs41268014 0.00213
NM_000077.5(CDKN2A):c.150+37G>C rs45456595 0.00212
NM_000384.3(APOB):c.11833A>G (p.Thr3945Ala) rs1801698 0.00212
NM_000642.3(AGL):c.2546+10T>C rs74551473 0.00212
NM_053025.4(MYLK):c.755-12C>T rs138877679 0.00212
NM_001244008.2(KIF1A):c.3888C>T (p.Arg1296=) rs144520412 0.00211
NM_016239.4(MYO15A):c.7655-7C>G rs191171943 0.00211
NM_018979.4(WNK1):c.2490G>A (p.Pro830=) rs79816263 0.00211
NM_133379.5(TTN):c.11849T>C (p.Ile3950Thr) rs72647897 0.00211
NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn) rs72749169 0.00210
NM_000091.5(COL4A3):c.4665G>A (p.Ala1555=) rs200858199 0.00210
NM_002047.4(GARS1):c.1420C>A (p.Arg474=) rs113958280 0.00210
NM_138477.4(CDAN1):c.3450+17A>G rs141626745 0.00210
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe) rs150441555 0.00209
NM_001009944.3(PKD1):c.12769G>A (p.Gly4257Arg) rs369397443 0.00209
NM_001267550.2(TTN):c.54208A>C (p.Arg18070=) rs138240658 0.00209
NM_022356.4(P3H1):c.1501C>T (p.Arg501Trp) rs115108794 0.00209
NM_153717.3(EVC):c.1636A>G (p.Met546Val) rs112608085 0.00209
NM_000431.4(MVK):c.381G>A (p.Pro127=) rs140397628 0.00208
NM_000540.3(RYR1):c.2121C>A (p.Gly707=) rs146104858 0.00208
NM_001267550.2(TTN):c.73168A>G (p.Thr24390Ala) rs182491843 0.00208
NM_002471.4(MYH6):c.3979-7dup rs545343612 0.00208
NM_003998.4(NFKB1):c.1845G>T (p.Leu615Phe) rs149211506 0.00208
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys) rs143184877 0.00208
NM_004356.4(CD81):c.414T>C (p.Asp138=) rs143644902 0.00208
NM_016239.4(MYO15A):c.10443G>A (p.Ala3481=) rs190486507 0.00208
NM_020919.4(ALS2):c.2241C>T (p.Tyr747=) rs3219160 0.00208
NM_000292.3(PHKA2):c.1398G>A (p.Ala466=) rs146631734 0.00207
NM_001035.3(RYR2):c.2396+17T>G rs376363428 0.00207
NM_001458.5(FLNC):c.2507C>A (p.Pro836Gln) rs199652368 0.00207
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile) rs72650019 0.00206
NM_005529.7(HSPG2):c.7191G>A (p.Ala2397=) rs2290499 0.00206
NM_000132.4(F8):c.2947G>A (p.Val983Ile) rs35295375 0.00205
NM_001114134.2(EPB42):c.453T>C (p.Asn151=) rs114136713 0.00205
NM_001267550.2(TTN):c.9077A>T (p.Asn3026Ile) rs11900987 0.00205
NM_001876.4(CPT1A):c.2198A>G (p.Asn733Ser) rs151271754 0.00205
NM_001999.4(FBN2):c.7471+6G>A rs200998513 0.00205
NM_147127.5(EVC2):c.2883A>C (p.Gly961=) rs149188988 0.00205
NM_000071.3(CBS):c.939G>A (p.Thr313=) rs2228298 0.00204
NM_000289.6(PFKM):c.2199-12A>G rs202008060 0.00204
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr) rs55837610 0.00204
NM_002661.5(PLCG2):c.2324A>G (p.Lys775Arg) rs142825971 0.00204
NM_004239.4(TRIP11):c.5629C>A (p.Pro1877Thr) rs148261539 0.00204
NM_005548.3(KARS1):c.1258C>T (p.Arg420Cys) rs77573084 0.00204
NM_138477.4(CDAN1):c.2463G>A (p.Gly821=) rs139809959 0.00204
NM_001199397.3(NEK1):c.1666-17C>T rs183761065 0.00203
NM_001457.4(FLNB):c.1472T>C (p.Met491Thr) rs147575358 0.00203
NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser) rs145277501 0.00203
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892 0.00202
NM_001159773.2(CANT1):c.801C>T (p.Asn267=) rs138199925 0.00202
NM_052945.4(TNFRSF13C):c.317G>A (p.Arg106Gln) rs150374940 0.00202
NM_000463.3(UGT1A1):c.540A>G (p.Glu180=) rs148755655 0.00201
NM_000492.3(CFTR):c.-461A>G rs185028612 0.00200
NM_006329.4(FBLN5):c.376G>A (p.Val126Met) rs61734479 0.00199
NM_012073.5(CCT5):c.331+14A>T rs201171003 0.00199
NM_133379.5(TTN):c.10917C>T (p.Gly3639=) rs140804168 0.00199
NM_000258.3(MYL3):c.130-14G>T rs192329378 0.00198
NM_001844.5(COL2A1):c.2046C>T (p.Asp682=) rs41263851 0.00198
NM_133379.5(TTN):c.10648C>T (p.Arg3550Trp) rs141407971 0.00198
NM_000059.4(BRCA2):c.6937+565T>C rs11571675 0.00195
NM_001267550.2(TTN):c.34307A>G (p.Lys11436Arg) rs568554504 0.00195
NM_005529.7(HSPG2):c.4627-3del rs368983547 0.00195
NM_006031.6(PCNT):c.9700+10C>T rs199917135 0.00195
NM_015141.4(GPD1L):c.981G>A (p.Val327=) rs144877595 0.00195
NM_001084.5(PLOD3):c.1935+105T>G rs186082235 0.00194
NM_001142864.4(PIEZO1):c.985C>G (p.Leu329Val) rs114507258 0.00194
NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile) rs144930507 0.00194
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549 0.00194
NM_000152.5(GAA):c.676C>G (p.Leu226Val) rs113085339 0.00193
NM_001042492.3(NF1):c.888+647C>G rs185500742 0.00193
NM_001267550.2(TTN):c.98439G>A (p.Val32813=) rs368487246 0.00193
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850 0.00192
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly) rs201167067 0.00192
NM_007194.4(CHEK2):c.1096-129A>T rs574744424 0.00192
NM_005340.7(HINT1):c.330C>T (p.His110=) rs139624223 0.00191
NM_015627.3(LDLRAP1):c.672C>T (p.Ser224=) rs41291054 0.00191
NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser) rs148939995 0.00191
NM_015512.5(DNAH1):c.5669G>T (p.Gly1890Val) rs200859252 0.00190
NM_000178.4(GSS):c.768-3C>T rs184506175 0.00189
NM_002471.4(MYH6):c.4320T>A (p.Ala1440=) rs145566711 0.00189
NM_032119.4(ADGRV1):c.11201T>C (p.Val3734Ala) rs113498662 0.00189
NM_001377.3(DYNC2H1):c.10314A>G (p.Glu3438=) rs369838929 0.00188
NM_002335.4(LRP5):c.1801+675A>G rs555106014 0.00188
NM_002691.4(POLD1):c.378C>T (p.Arg126=) rs145324823 0.00188
NM_002972.4(SBF1):c.2079C>T (p.His693=) rs199672732 0.00188
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln) rs140621959 0.00188
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 0.00188
NM_000188.3(HK1):c.1571-18C>T rs75829368 0.00187
NM_001267550.2(TTN):c.85691A>T (p.Lys28564Ile) rs199859344 0.00187
NM_002103.5(GYS1):c.300+8G>A rs5454 0.00187
NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val) rs35193202 0.00187
NM_005957.5(MTHFR):c.1959G>A (p.Thr653=) rs45572531 0.00187
NM_000289.6(PFKM):c.702A>T (p.Pro234=) rs138022863 0.00185
NM_001235.5(SERPINH1):c.722-13G>A rs116506210 0.00185
NM_004415.4(DSP):c.1206G>A (p.Lys402=) rs150422458 0.00185
NM_005529.7(HSPG2):c.355-14G>C rs372356869 0.00185
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945 0.00185
NM_000091.5(COL4A3):c.3566-9T>C rs147886850 0.00184
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) rs147373451 0.00184
NM_001457.4(FLNB):c.6231C>T (p.Asp2077=) rs145280904 0.00184
NM_021625.5(TRPV4):c.2498A>G (p.Asn833Ser) rs116035946 0.00184
NM_000037.4(ANK1):c.2197-17G>A rs188360816 0.00183
NM_000208.4(INSR):c.1080C>T (p.Cys360=) rs56066516 0.00183
NM_000289.6(PFKM):c.1500+29C>T rs138256599 0.00183
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys) rs111033255 0.00183
NM_000492.4(CFTR):c.1365G>A (p.Ala455=) rs79074685 0.00183
NM_006767.4(LZTR1):c.741C>T (p.Ser247=) rs114458679 0.00183
NM_016599.5(MYOZ2):c.76+20G>A rs113920336 0.00183
NM_020433.5(JPH2):c.856A>G (p.Thr286Ala) rs144022614 0.00183
NM_030662.4(MAP2K2):c.580+6G>A rs201435249 0.00183
NM_031443.4(CCM2):c.246C>T (p.Pro82=) rs148244188 0.00183
NM_000019.4(ACAT1):c.238+17C>T rs199918672 0.00182
NM_000558.5(HBA1):c.95+38C>T rs556086584 0.00182
NM_001114134.2(EPB42):c.741C>A (p.Gly247=) rs115626075 0.00182
NM_001130823.3(DNMT1):c.150C>T (p.His50=) rs146112081 0.00182
NM_006031.6(PCNT):c.5614G>A (p.Glu1872Lys) rs112853262 0.00182
NM_002180.3(IGHMBP2):c.304G>T (p.Ala102Ser) rs35610053 0.00181
NM_003126.4(SPTA1):c.1181A>G (p.Asn394Ser) rs111834376 0.00181
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg) rs121908919 0.00180
NM_001377.3(DYNC2H1):c.1953+14T>C rs186540831 0.00180
NM_144687.4(NLRP12):c.2227A>C (p.Lys743Gln) rs74373537 0.00180
NM_198239.2(CCN6):c.533A>T (p.Asn178Ile) rs35374349 0.00180
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr) rs145007501 0.00179
NM_006031.6(PCNT):c.9247C>T (p.His3083Tyr) rs143289533 0.00179
NM_000152.5(GAA):c.2332-12A>T rs200965268 0.00178
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304 0.00178
NM_001879.6(MASP1):c.1442-5C>G rs138989954 0.00178
NM_003036.4(SKI):c.1211+19C>T rs182600375 0.00178
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp) rs148041814 0.00178
NM_006371.5(CRTAP):c.732C>T (p.Leu244=) rs149119710 0.00178
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys) rs149146258 0.00178
NM_000089.4(COL1A2):c.808G>A (p.Val270Ile) rs368468 0.00177
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435 0.00177
NM_001267550.2(TTN):c.29963-13A>G rs72650008 0.00177
NM_006073.4(TRDN):c.793+61T>C rs572614305 0.00177
NM_153717.3(EVC):c.1963G>A (p.Ala655Thr) rs149344570 0.00177
NM_000038.6(APC):c.-19+512G>A rs550306841 0.00176
NM_001355436.2(SPTB):c.5463C>T (p.Pro1821=) rs114513294 0.00176
NM_001375808.2(LPIN2):c.-10+1381T>C rs566304730 0.00176
NM_002691.4(POLD1):c.773C>T (p.Thr258Met) rs76131127 0.00176
NM_004086.3(COCH):c.841G>A (p.Asp281Asn) rs28362775 0.00176
NM_014236.4(GNPAT):c.1056-20C>A rs114267453 0.00176
NM_005751.5(AKAP9):c.5978-4A>G rs147494754 0.00175
NM_033118.4(MYLK2):c.508G>A (p.Glu170Lys) rs145656924 0.00175
NM_001353214.3(DYM):c.1717C>T (p.Leu573=) rs145279594 0.00174
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461 0.00174
NM_053013.4(ENO3):c.86-10C>T rs201571802 0.00174
NM_181078.3(IL21R):c.1467G>A (p.Thr489=) rs56002407 0.00174
NM_000243.3(MEFV):c.1610+21G>A rs113925050 0.00173
NM_006363.6(SEC23B):c.993+10C>G rs201948587 0.00173
NM_213655.5(WNK1):c.2362C>T (p.Arg788Cys) rs72649848 0.00173
NM_000188.3(HK1):c.2583C>T (p.Asp861=) rs145610109 0.00172
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr) rs189966800 0.00172
NM_002471.4(MYH6):c.2928+5G>A rs28730772 0.00172
NM_145045.5(ODAD3):c.398G>A (p.Arg133His) rs112493796 0.00172
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_001142864.4(PIEZO1):c.3969-12G>A rs200317312 0.00171
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) rs188336294 0.00171
NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser) rs113667224 0.00171
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val) rs183156491 0.00171
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His) rs75419644 0.00170
NM_002296.4(LBR):c.837+19T>A rs77316576 0.00170
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245 0.00170
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_001167623.2(CACNA1C):c.3883A>G (p.Ile1295Val) rs114851656 0.00169
NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=) rs56077602 0.00169
NM_033056.4(PCDH15):c.4733T>C (p.Val1578Ala) rs139915181 0.00169
NM_182961.4(SYNE1):c.25091C>T (p.Pro8364Leu) rs148376885 0.00169
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter) rs71352737 0.00168
NM_080680.3(COL11A2):c.329G>A (p.Arg110Gln) rs145960317 0.00168
NM_194248.3(OTOF):c.4582G>A (p.Asp1528Asn) rs138151478 0.00168
NM_000089.4(COL1A2):c.3614G>A (p.Arg1205Gln) rs73428220 0.00167
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr) rs80116829 0.00167
NM_003036.4(SKI):c.2184G>C (p.Pro728=) rs543584871 0.00167
NM_006231.4(POLE):c.6453C>T (p.Tyr2151=) rs116076060 0.00167
NM_000384.3(APOB):c.9105T>C (p.Asn3035=) rs147510760 0.00166
NM_003978.5(PSTPIP1):c.657A>C (p.Gln219His) rs139362350 0.00166
NM_018063.5(HELLS):c.334G>A (p.Gly112Ser) rs148139900 0.00166
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_001009944.3(PKD1):c.3183G>A (p.Glu1061=) rs148727945 0.00165
NM_001013693.3(LDLRAD2):c.*2629C>T rs181154087 0.00165
NM_002473.6(MYH9):c.4952T>C (p.Met1651Thr) rs142094977 0.00165
NM_006031.6(PCNT):c.1519C>G (p.Arg507Gly) rs138036524 0.00165
NM_025132.4(WDR19):c.2361C>T (p.Phe787=) rs200133722 0.00165
NM_177438.3(DICER1):c.20A>G (p.Gln7Arg) rs117358479 0.00165
NM_002529.4(NTRK1):c.1354+18A>T rs73004759 0.00164
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776 0.00164
NM_000138.5(FBN1):c.2420-8T>C rs140582 0.00163
NM_006031.6(PCNT):c.5872C>G (p.His1958Asp) rs189308172 0.00163
NM_080911.3(UNG):c.533+6G>A rs55812333 0.00163
NM_000071.3(CBS):c.1059G>A (p.Thr353=) rs61735859 0.00162
NM_000090.4(COL3A1):c.130G>A (p.Val44Ile) rs79632685 0.00162
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser) rs11557600 0.00162
NM_001159699.2(FHL1):c.489C>T (p.Asp163=) rs149670651 0.00162
NM_000038.6(APC):c.120G>A (p.Glu40=) rs142720069 0.00161
NM_001282225.2(ADA2):c.542+7A>G rs149078840 0.00161
NM_001370298.3(FGD4):c.666A>T (p.Ala222=) rs139357821 0.00161
NM_001854.4(COL11A1):c.3729G>A (p.Gly1243=) rs148395062 0.00161
NM_014639.4(SKIC3):c.4004G>A (p.Gly1335Asp) rs147273993 0.00161
NM_015271.5(TRIM2):c.122G>A (p.Arg41His) rs146705057 0.00161
NM_021625.5(TRPV4):c.57C>T (p.Pro19=) rs112408790 0.00161
NM_144687.4(NLRP12):c.1063G>A (p.Glu355Lys) rs143855597 0.00161
NM_000476.3(AK1):c.325-9C>T rs145431113 0.00160
NM_001142864.4(PIEZO1):c.6903G>A (p.Leu2301=) rs147479380 0.00160
NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val) rs184018403 0.00160
NM_004972.4(JAK2):c.3178-12_3178-11insC rs533264615 0.00160
NM_018979.4(WNK1):c.1074C>T (p.Thr358=) rs72648621 0.00160
NM_022114.4(PRDM16):c.2452G>A (p.Gly818Ser) rs201904226 0.00160
NM_000251.3(MSH2):c.1277-8T>C rs145400590 0.00159
NM_001358921.2(COQ2):c.1028T>C (p.Val343Ala) rs148156462 0.00159
NM_001375808.2(LPIN2):c.1410C>T (p.Thr470=) rs35932462 0.00159
NM_002691.4(POLD1):c.80A>T (p.Asp27Val) rs150066950 0.00159
NM_003126.4(SPTA1):c.5118C>T (p.His1706=) rs200945419 0.00159
NM_153676.4(USH1C):c.2491-16C>T rs200919289 0.00159
NM_000321.3(RB1):c.380+10C>G rs187110786 0.00158
NM_000435.3(NOTCH3):c.3314G>C (p.Gly1105Ala) rs143764521 0.00158
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile) rs193922639 0.00158
NM_001999.4(FBN2):c.2940C>T (p.Cys980=) rs143255082 0.00158
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His) rs730254 0.00158
NM_006031.6(PCNT):c.6080A>G (p.Gln2027Arg) rs147189224 0.00157
NM_014236.4(GNPAT):c.925-16G>A rs41305723 0.00157
NM_018979.4(WNK1):c.6150T>C (p.Leu2050=) rs151331381 0.00157
NM_000238.4(KCNH2):c.1129-18C>T rs78794789 0.00156
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00156
NM_001142864.4(PIEZO1):c.5728G>A (p.Glu1910Lys) rs200929552 0.00156
NM_001142864.4(PIEZO1):c.64+17C>T rs577170711 0.00156
NM_001498.4(GCLC):c.1743C>T (p.Ile581=) rs138321238 0.00156
NM_002335.4(LRP5):c.2295G>A (p.Ser765=) rs140955013 0.00156
NM_020631.6(PLEKHG5):c.1932T>C (p.Pro644=) rs150807400 0.00156
NM_020800.3(IFT80):c.897G>A (p.Val299=) rs145776235 0.00156
NM_000552.5(VWF):c.1728G>T (p.Met576Ile) rs150146744 0.00155
NM_002335.4(LRP5):c.4623G>A (p.Thr1541=) rs139974816 0.00155
NM_004004.6(GJB2):c.*3C>A rs111033460 0.00155
NM_021629.4(GNB4):c.186T>C (p.His62=) rs149798652 0.00155
NM_000463.3(UGT1A1):c.141C>T (p.Ile47=) rs34526305 0.00154
NM_003200.5(TCF3):c.750G>A (p.Pro250=) rs201703361 0.00154
NM_005422.4(TECTA):c.5160C>T (p.Asp1720=) rs142657158 0.00154
NM_000326.5(RLBP1):c.924C>G (p.Pro308=) rs144615495 0.00153
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101 0.00153
NM_001035.3(RYR2):c.4596+12G>A rs148557427 0.00153
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) rs61751217 0.00153
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala) rs142992009 0.00153
NM_006415.4(SPTLC1):c.261C>T (p.Gly87=) rs151283029 0.00153
NM_014874.4(MFN2):c.1179G>A (p.Met393Ile) rs12069578 0.00153
NM_203486.3(DLL3):c.618C>T (p.Pro206=) rs192624990 0.00153
NM_005591.4(MRE11):c.822T>C (p.Leu274=) rs137868143 0.00152
NM_006790.3(MYOT):c.445G>C (p.Glu149Gln) rs71578935 0.00152
NM_000642.3(AGL):c.3792A>T (p.Gly1264=) rs148606237 0.00151
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774 0.00151
NM_001267550.2(TTN):c.68458G>C (p.Ala22820Pro) rs72646880 0.00151
NM_001291303.3(FAT4):c.5921-14C>T rs190218898 0.00151
NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg) rs140830294 0.00151
NM_021167.5(GATAD1):c.762G>A (p.Gly254=) rs139637606 0.00151
NM_000037.4(ANK1):c.2495G>A (p.Arg832Gln) rs34523608 0.00150
NM_000037.4(ANK1):c.2745G>A (p.Val915=) rs143585080 0.00150
NM_000188.3(HK1):c.375+19C>T rs202035445 0.00150
NM_001009944.3(PKD1):c.10325C>T (p.Ala3442Val) rs144593342 0.00150
NM_001244008.2(KIF1A):c.4612C>T (p.Arg1538Cys) rs200184619 0.00150
NM_001277115.2(DNAH11):c.6970C>G (p.Leu2324Val) rs201323940 0.00150
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_006446.5(SLCO1B1):c.1332-14T>C rs71581991 0.00150
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=) rs147448807 0.00150
NM_016203.4(PRKAG2):c.1704G>A (p.Thr568=) rs138167675 0.00150
NM_020778.5(ALPK3):c.3624A>G (p.Pro1208=) rs368494764 0.00150
NM_006031.6(PCNT):c.4354G>A (p.Gly1452Arg) rs143796569 0.00149
NM_000355.4(TCN2):c.138C>T (p.Ser46=) rs143250551 0.00148
NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser) rs148072630 0.00148
NM_002471.4(MYH6):c.2890G>T (p.Ala964Ser) rs144907522 0.00148
NM_004239.4(TRIP11):c.5298G>T (p.Lys1766Asn) rs145868557 0.00148
NM_005751.5(AKAP9):c.10197T>C (p.Thr3399=) rs143627839 0.00148
NM_000152.5(GAA):c.692+17G>C rs199559553 0.00147
NM_001013703.4(EIF2AK4):c.1968C>T (p.Ile656=) rs369621429 0.00147
NM_001127217.3(SMAD9):c.788G>A (p.Arg263Gln) rs78249575 0.00147
NM_001142864.4(PIEZO1):c.2409G>C (p.Gln803His) rs200029740 0.00147
NM_001355436.2(SPTB):c.5750C>T (p.Ser1917Phe) rs149678681 0.00147
NM_052945.4(TNFRSF13C):c.102C>T (p.Ala34=) rs567541615 0.00147
NM_000090.4(COL3A1):c.2056C>G (p.Pro686Ala) rs41263775 0.00146
NM_001267550.2(TTN):c.73336C>T (p.Leu24446=) rs189768015 0.00146
NM_003126.4(SPTA1):c.5256G>A (p.Leu1752=) rs141683960 0.00146
NM_147127.5(EVC2):c.3411C>T (p.Ala1137=) rs144532809 0.00146
NM_000435.3(NOTCH3):c.6237G>A (p.Gly2079=) rs376598183 0.00145
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe) rs151073129 0.00145
NM_000518.5(HBB):c.432C>T (p.His144=) rs36020563 0.00145
NM_001127217.3(SMAD9):c.487G>A (p.Ala163Thr) rs61753157 0.00145
NM_003924.4(PHOX2B):c.288C>G (p.Arg96=) rs201892150 0.00145
NM_020433.5(JPH2):c.637C>T (p.Arg213Trp) rs767328866 0.00145
NM_032119.4(ADGRV1):c.5072C>T (p.Thr1691Met) rs146954342 0.00145
NM_000335.5(SCN5A):c.3919C>T (p.Leu1307Phe) rs41313031 0.00144
NM_001142864.4(PIEZO1):c.1465C>G (p.Arg489Gly) rs59550107 0.00144
NM_002386.4(MC1R):c.67C>T (p.Gln23Ter) rs201533137 0.00144
NM_002972.4(SBF1):c.3666G>A (p.Lys1222=) rs373529561 0.00144
NM_000316.3(PTH1R):c.1353+17C>T rs202140438 0.00143
NM_000642.3(AGL):c.1875G>T (p.Thr625=) rs141944878 0.00143
NM_004006.3(DMD):c.7472A>G (p.Gln2491Arg) rs147694734 0.00143
NM_004086.3(COCH):c.1204A>G (p.Ile402Val) rs28362778 0.00143
NM_173560.4(RFX6):c.1733G>C (p.Arg578Pro) rs146115506 0.00143
NM_001032283.3(TMPO):c.565+1696C>T rs141443652 0.00142
NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805 0.00142
NM_001853.4(COL9A3):c.237G>A (p.Pro79=) rs141960487 0.00142
NM_005751.5(AKAP9):c.6037G>A (p.Glu2013Lys) rs61757671 0.00142
NM_018706.7(DHTKD1):c.2184C>T (p.Asp728=) rs142017323 0.00142
NM_000059.4(BRCA2):c.9634G>C (p.Gly3212Arg) rs55775473 0.00141
NM_001267550.2(TTN):c.65747G>A (p.Arg21916Gln) rs148849567 0.00141
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg) rs201158906 0.00141
NM_001355436.2(SPTB):c.3679C>T (p.Pro1227Ser) rs149186357 0.00141
NM_003114.5(SPAG1):c.825C>T (p.Asn275=) rs150007121 0.00141
NM_003809.3(TNFSF12):c.597G>A (p.Ala199=) rs143039184 0.00141
NM_021625.5(TRPV4):c.28G>C (p.Ala10Pro) rs376436045 0.00141
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg) rs7215458 0.00140
NM_000335.5(SCN5A):c.3246C>T (p.Ser1082=) rs111422496 0.00140
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042 0.00140
NM_001355436.2(SPTB):c.2881G>A (p.Val961Ile) rs149316006 0.00140
NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val) rs200466720 0.00140
NM_001457.4(FLNB):c.4929C>T (p.Ala1643=) rs149070858 0.00140
NM_006302.3(MOGS):c.1581C>A (p.Asp527Glu) rs200508287 0.00140
NM_181523.3(PIK3R1):c.687G>A (p.Ser229=) rs34175949 0.00140
NM_000018.4(ACADVL):c.1606-22C>T rs370303265 0.00139
NM_000089.4(COL1A2):c.3139G>A (p.Val1047Met) rs35820023 0.00139
NM_000536.4(RAG2):c.1095T>C (p.Ser365=) rs140519815 0.00139
NM_001243133.2(NLRP3):c.1119G>A (p.Glu373=) rs138613962 0.00139
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp) rs148720124 0.00139
NM_004415.4(DSP):c.6678T>A (p.Gly2226=) rs149070106 0.00139
NM_000037.4(ANK1):c.5395-1162C>A rs145094714 0.00138
NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu) rs55816687 0.00138
NM_000492.4(CFTR):c.4243-5C>T rs114402068 0.00138
NM_001355436.2(SPTB):c.5050C>T (p.Arg1684Cys) rs141226650 0.00138
NM_001355436.2(SPTB):c.6045G>A (p.Ser2015=) rs149362111 0.00138
NM_001384474.1(LOXHD1):c.2914G>A (p.Glu972Lys) rs367630521 0.00138
NM_001458.5(FLNC):c.1577G>A (p.Arg526Gln) rs34932223 0.00138
NM_004341.5(CAD):c.83-3C>T rs151119882 0.00138
NM_005262.3(GFER):c.189G>C (p.Glu63Asp) rs375792737 0.00138
NM_005422.4(TECTA):c.3492C>T (p.Thr1164=) rs144012985 0.00138
NM_017668.3(NDE1):c.948-2772T>C rs143288748 0.00138
NM_000051.4(ATM):c.998C>T (p.Ser333Phe) rs28904919 0.00137
NM_001142864.4(PIEZO1):c.5963C>T (p.Ala1988Val) rs556192193 0.00137
NM_001145809.2(MYH14):c.5573G>A (p.Arg1858His) rs11882073 0.00137
NM_001267550.2(TTN):c.72782G>A (p.Arg24261Gln) rs142874389 0.00137
NM_001370466.1(NOD2):c.2291G>A (p.Arg764Gln) rs104895464 0.00137
NM_001605.3(AARS1):c.700C>T (p.Pro234Ser) rs141840552 0.00137
NM_001142864.4(PIEZO1):c.3793G>A (p.Asp1265Asn) rs570106950 0.00136
NM_001395413.1(POR):c.975C>T (p.Ala325=) rs72557941 0.00136
NM_002439.5(MSH3):c.792+8G>A rs147777411 0.00136
NM_003126.4(SPTA1):c.5378G>A (p.Arg1793Gln) rs200938874 0.00136
NM_000053.4(ATP7B):c.1278C>T (p.Val426=) rs143556945 0.00135
NM_001105206.3(LAMA4):c.1633C>T (p.Arg545Cys) rs138153075 0.00135
NM_017802.4(DNAAF5):c.1931+8C>T rs145254596 0.00135
NM_020070.4(IGLL1):c.420T>C (p.Phe140=) rs1064423 0.00135
NM_021830.5(TWNK):c.639C>T (p.Gly213=) rs11542130 0.00135
NM_022041.4(GAN):c.1612+12A>G rs150344737 0.00135
NM_203486.3(DLL3):c.352-15C>T rs201902809 0.00135
NM_000179.3(MSH6):c.3647-6T>A rs182871847 0.00134
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=) rs148121889 0.00134
NM_000355.4(TCN2):c.428-4T>C rs201408393 0.00134
NM_001013703.4(EIF2AK4):c.2394A>G (p.Leu798=) rs186026165 0.00134
NM_001267550.2(TTN):c.72137C>T (p.Ala24046Val) rs146767076 0.00134
NM_001267550.2(TTN):c.8938G>A (p.Ala2980Thr) rs72647885 0.00134
NM_002473.6(MYH9):c.5323A>G (p.Lys1775Glu) rs145139708 0.00134
NM_194248.3(OTOF):c.367G>A (p.Gly123Ser) rs116314622 0.00134
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser) rs139189200 0.00133
NM_001005373.4(LRSAM1):c.268G>A (p.Asp90Asn) rs117692127 0.00133
NM_001114134.2(EPB42):c.1672G>A (p.Glu558Lys) rs75424023 0.00133
NM_001267550.2(TTN):c.13202G>A (p.Arg4401Gln) rs200431386 0.00133
NM_001457.4(FLNB):c.3169A>C (p.Lys1057Gln) rs13321615 0.00133
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser) rs141553918 0.00133
NM_014014.5(SNRNP200):c.5766C>T (p.Leu1922=) rs147427344 0.00133
NM_014920.5(CILK1):c.666T>C (p.Thr222=) rs139739780 0.00133
NM_024577.4(SH3TC2):c.79A>G (p.Thr27Ala) rs141649676 0.00133
NM_000552.5(VWF):c.6099C>T (p.Tyr2033=) rs55784921 0.00132
NM_001267550.2(TTN):c.58869A>G (p.Lys19623=) rs191066933 0.00132
NM_001355436.2(SPTB):c.5915G>A (p.Arg1972Gln) rs140141633 0.00132
NM_004415.4(DSP):c.3696C>A (p.Ser1232=) rs141120358 0.00132
NM_001364905.1(LRBA):c.4591T>G (p.Phe1531Val) rs114610541 0.00131
NM_001370466.1(NOD2):c.1970G>A (p.Arg657Gln) rs114664276 0.00131
NM_001457.4(FLNB):c.7360G>A (p.Val2454Ile) rs146499414 0.00131
NM_002878.4(RAD51D):c.666A>G (p.Glu222=) rs114012742 0.00131
NM_002972.4(SBF1):c.5463C>T (p.Tyr1821=) rs144773853 0.00131
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_005529.7(HSPG2):c.204C>A (p.Asp68Glu) rs1869780 0.00131
NM_000552.5(VWF):c.8079C>T (p.Cys2693=) rs41276732 0.00130
NM_000047.3(ARSL):c.1694T>G (p.Ile565Ser) rs142375403 0.00129
NM_000132.4(F8):c.4333T>C (p.Ser1445Pro) rs146153504 0.00129
NM_001377.3(DYNC2H1):c.8481A>C (p.Thr2827=) rs370627443 0.00129
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691 0.00129
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met) rs139872089 0.00129
NM_033124.5(CCDC65):c.203T>C (p.Val68Ala) rs118060953 0.00129
NM_133379.5(TTN):c.14214C>T (p.Thr4738=) rs147513899 0.00129
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546 0.00129
NM_001110556.2(FLNA):c.1813G>A (p.Asp605Asn) rs201093148 0.00128
NM_001267550.2(TTN):c.36285C>T (p.His12095=) rs201184203 0.00128
NM_001322934.2(NFKB2):c.2145G>A (p.Ser715=) rs200006038 0.00128
NM_001943.5(DSG2):c.1875G>C (p.Leu625=) rs35743180 0.00128
NM_003072.5(SMARCA4):c.1419+9C>T rs374635008 0.00128
NM_004655.4(AXIN2):c.1952C>T (p.Ser651Leu) rs74006838 0.00128
NM_014845.6(FIG4):c.446+9G>A rs190287033 0.00128
NM_031443.4(CCM2):c.980A>G (p.Asn327Ser) rs150428392 0.00128
NM_177438.3(DICER1):c.4891T>G (p.Ser1631Ala) rs145551486 0.00128
NM_000492.4(CFTR):c.4242+10T>C rs138642693 0.00127
NM_001009944.3(PKD1):c.11717G>T (p.Cys3906Phe) rs369291413 0.00127
NM_001364905.1(LRBA):c.2340A>G (p.Thr780=) rs79392371 0.00127
NM_001370466.1(NOD2):c.2296G>A (p.Val766Met) rs104895444 0.00127
NM_153717.3(EVC):c.1040C>T (p.Thr347Met) rs34947207 0.00127
NM_000463.3(UGT1A1):c.1122T>C (p.Gly374=) rs139698110 0.00126
NM_001040716.2(PC):c.616G>T (p.Val206Leu) rs147945506 0.00126
NM_004415.4(DSP):c.2346C>T (p.Asp782=) rs139071827 0.00126
NM_022489.4(INF2):c.3134G>A (p.Arg1045Gln) rs200369827 0.00126
NM_144687.4(NLRP12):c.1731G>A (p.Lys577=) rs73608454 0.00126
NM_000059.4(BRCA2):c.632-69T>C rs61948377 0.00125
NM_001322934.2(NFKB2):c.1288C>T (p.Pro430Ser) rs202001697 0.00125
NM_003098.3(SNTA1):c.993C>T (p.Arg331=) rs143309917 0.00125
NM_003126.4(SPTA1):c.6132G>C (p.Leu2044=) rs186987240 0.00125
NM_006231.4(POLE):c.6675C>T (p.Arg2225=) rs149973644 0.00125
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_001243177.4(ALDOA):c.648C>G (p.Leu216=) rs112110009 0.00124
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser) rs147580753 0.00124
NM_020779.4(WDR35):c.1755C>T (p.Val585=) rs146130105 0.00124
NM_024996.7(GFM1):c.690-5C>G rs201685981 0.00124
NM_000091.5(COL4A3):c.2886C>T (p.Phe962=) rs77846212 0.00123
NM_000175.5(GPI):c.987C>T (p.Asn329=) rs140676743 0.00123
NM_001005361.3(DNM2):c.238C>T (p.His80Tyr) rs148790687 0.00123
NM_001130823.3(DNMT1):c.768+12T>A rs189898346 0.00123
NM_001130823.3(DNMT1):c.768+18C>A rs200380915 0.00123
NM_002878.4(RAD51D):c.263+1588A>G rs180869630 0.00123
NM_003680.4(YARS1):c.1374G>A (p.Pro458=) rs151227410 0.00123
NM_004208.4(AIFM1):c.948C>A (p.Ala316=) rs148184613 0.00123
NM_006005.3(WFS1):c.2052G>A (p.Ala684=) rs71539668 0.00123
NM_022124.6(CDH23):c.2781C>T (p.Tyr927=) rs375102725 0.00123
NM_177438.3(DICER1):c.1908-4A>G rs112284114 0.00123
NM_177438.3(DICER1):c.3213A>G (p.Arg1071=) rs148959399 0.00123
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688 0.00122
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg) rs45466399 0.00122
NM_001277115.2(DNAH11):c.6181-12T>C rs201203384 0.00122
NM_005529.7(HSPG2):c.11169C>T (p.Phe3723=) rs139033413 0.00122
NM_177438.3(DICER1):c.5604-12G>A rs149841885 0.00122
NM_000037.4(ANK1):c.4606C>T (p.Arg1536Cys) rs146416859 0.00121
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520 0.00121
NM_001386795.1(DTNA):c.1088T>C (p.Leu363Ser) rs546236565 0.00121
NM_021625.5(TRPV4):c.2248G>A (p.Val750Ile) rs148171058 0.00121
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_177438.3(DICER1):c.5145C>T (p.Leu1715=) rs139500905 0.00121
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr) rs11570082 0.00120
NM_000719.7(CACNA1C):c.724C>T (p.Leu242=) rs200800133 0.00120
NM_001040108.2(MLH3):c.359T>C (p.Phe120Ser) rs28756979 0.00120
NM_001184.4(ATR):c.992A>G (p.Asp331Gly) rs150008448 0.00120
NM_001386795.1(DTNA):c.1000G>A (p.Val334Met) rs148123045 0.00120
NM_001458.5(FLNC):c.2180G>A (p.Arg727His) rs200618242 0.00120
NM_006736.6(DNAJB2):c.195C>T (p.Tyr65=) rs116719245 0.00120
NM_153717.3(EVC):c.1464+5C>T rs369734950 0.00120
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser) rs142786231 0.00120
NM_000037.4(ANK1):c.2826G>A (p.Thr942=) rs7002295 0.00119
NM_000037.4(ANK1):c.997G>A (p.Asp333Asn) rs147608206 0.00119
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00119
NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys) rs140901235 0.00119
NM_001378454.1(ALMS1):c.945T>C (p.Ser315=) rs183390773 0.00119
NM_004006.3(DMD):c.5620G>A (p.Glu1874Lys) rs142441725 0.00119
NM_031443.4(CCM2):c.1217C>T (p.Thr406Met) rs150734280 0.00119
NM_000152.5(GAA):c.1830C>T (p.Ala610=) rs61736896 0.00118
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His) rs72646808 0.00118
NM_001365951.3(KIF1B):c.3259+9A>G rs149566646 0.00118
NM_001370466.1(NOD2):c.2886-16G>C rs199525467 0.00118
NM_021815.5(SLC5A7):c.46C>T (p.Leu16Phe) rs143876748 0.00118
NM_000293.3(PHKB):c.1459-9G>T rs201995780 0.00117
NM_001037.5(SCN1B):c.588T>C (p.Asn196=) rs77244433 0.00117
NM_001999.4(FBN2):c.1592G>C (p.Gly531Ala) rs34450503 0.00117
NM_004984.4(KIF5A):c.2839A>G (p.Thr947Ala) rs150672943 0.00117
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala) rs147370143 0.00117
NM_024577.4(SH3TC2):c.1178C>T (p.Ala393Val) rs148321018 0.00117
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) rs111967655 0.00116
NM_000548.5(TSC2):c.1946T>C (p.Met649Thr) rs45490792 0.00116
NM_001009944.3(PKD1):c.588C>T (p.Ser196=) rs776302294 0.00116
NM_001457.4(FLNB):c.2493C>T (p.Pro831=) rs145952210 0.00116
NM_001854.4(COL11A1):c.3277-13A>C rs371455495 0.00116
NM_002878.4(RAD51D):c.146C>T (p.Ala49Val) rs140317560 0.00116
NM_002878.4(RAD51D):c.263+1509C>T rs201506572 0.00116
NM_014822.4(SEC24D):c.2681C>T (p.Thr894Met) rs149063473 0.00116
NM_016169.4(SUFU):c.600C>T (p.Ile200=) rs149513330 0.00116
NM_000337.6(SGCD):c.213G>A (p.Arg71=) rs74846539 0.00115
NM_000061.3(BTK):c.615G>T (p.Glu205Asp) rs35877704 0.00114
NM_000335.5(SCN5A):c.1236C>T (p.Val412=) rs45565936 0.00114
NM_024577.4(SH3TC2):c.137A>C (p.Gln46Pro) rs146162276 0.00114
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054 0.00113
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359 0.00113
NM_001033855.3(DCLRE1C):c.36A>C (p.Pro12=) rs148108773 0.00113
NM_001355436.2(SPTB):c.4670A>G (p.Glu1557Gly) rs140648376 0.00113
NM_001355436.2(SPTB):c.6345+19T>A rs151232626 0.00113
NM_002241.5(KCNJ10):c.812G>A (p.Arg271His) rs3795339 0.00113
NM_004006.3(DMD):c.2745A>C (p.Thr915=) rs149922633 0.00113
NM_016204.4(GDF2):c.352A>T (p.Ile118Phe) rs144456901 0.00113
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg) rs28997570 0.00113
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val) rs138287857 0.00112
NM_000304.4(PMP22):c.178+7C>A rs147885521 0.00111
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_001457.4(FLNB):c.3522G>A (p.Ser1174=) rs140993979 0.00111
NM_003242.6(TGFBR2):c.94+16245G>A rs61732532 0.00111
NM_001009944.3(PKD1):c.739C>T (p.Leu247Phe) rs537409943 0.00110
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950 0.00110
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His) rs34193178 0.00110
NM_001999.4(FBN2):c.5353+10C>T rs113589974 0.00110
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652 0.00110
NM_003126.4(SPTA1):c.174C>T (p.Phe58=) rs190704778 0.00110
NM_014236.4(GNPAT):c.1212T>C (p.Ala404=) rs143205045 0.00110
NM_080680.3(COL11A2):c.3576C>T (p.Gly1192=) rs138380958 0.00110
NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg) rs55800493 0.00109
NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala) rs45489199 0.00109
NM_000478.6(ALPL):c.182-15C>G rs201873253 0.00109
NM_001277115.2(DNAH11):c.12370T>G (p.Leu4124Val) rs151156028 0.00109
NM_005591.4(MRE11):c.426C>T (p.Asp142=) rs3218740 0.00109
NM_015512.5(DNAH1):c.9343C>T (p.Arg3115Trp) rs185397176 0.00109
NM_203486.3(DLL3):c.63C>T (p.Leu21=) rs146255899 0.00109
NM_000053.4(ATP7B):c.*23G>T rs201108784 0.00108
NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala) rs56091799 0.00108
NM_000384.3(APOB):c.7612C>T (p.Leu2538=) rs72653093 0.00108
NM_001242896.3(DEPDC5):c.3265-3C>T rs371377906 0.00108
NM_001267550.2(TTN):c.12986G>A (p.Arg4329Lys) rs199560188 0.00108
NM_001267550.2(TTN):c.15542G>C (p.Gly5181Ala) rs201185434 0.00108
NM_001267550.2(TTN):c.16055-9A>C rs368897883 0.00108
NM_006254.4(PRKCD):c.603C>T (p.Ile201=) rs75794462 0.00108
NM_020975.6(RET):c.1197G>A (p.Pro399=) rs148371113 0.00108
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser) rs147307031 0.00107
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly) rs139848756 0.00107
NM_001267550.2(TTN):c.12733A>C (p.Asn4245His) rs199652066 0.00107
NM_001267550.2(TTN):c.17300G>A (p.Ser5767Asn) rs200692495 0.00107
NM_007294.4(BRCA1):c.765G>A (p.Glu255=) rs62625299 0.00107
NM_024753.5(TTC21B):c.2472G>A (p.Leu824=) rs114725374 0.00107
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907 0.00106
NM_000302.4(PLOD1):c.564G>C (p.Leu188Phe) rs201888323 0.00106
NM_001103.4(ACTN2):c.1383C>T (p.Ile461=) rs34827377 0.00106
NM_001369.3(DNAH5):c.1644+12A>G rs201116549 0.00106
NM_001395413.1(POR):c.1882G>A (p.Val628Ile) rs145782750 0.00106
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met) rs145687082 0.00106
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459 0.00106
NM_020070.4(IGLL1):c.616A>T (p.Thr206Ser) rs139491925 0.00106
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu) rs35912339 0.00106
NC_000016.10:g.177603A>T rs545195355 0.00105
NM_000053.4(ATP7B):c.51+31G>A rs116654819 0.00105
NM_000071.3(CBS):c.1643G>A (p.Arg548Gln) rs150828989 0.00105
NM_000435.3(NOTCH3):c.4737-19C>T rs180755159 0.00105
NM_001142864.4(PIEZO1):c.6822C>T (p.Ser2274=) rs35686439 0.00105
NM_001844.5(COL2A1):c.709-8G>T rs200757693 0.00105
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn) rs145097270 0.00105
NM_147127.5(EVC2):c.2707-13A>T rs146588799 0.00105
NM_000168.6(GLI3):c.3208A>T (p.Thr1070Ser) rs150907867 0.00104
NM_001040108.2(MLH3):c.4351G>A (p.Glu1451Lys) rs28939071 0.00104
NM_001927.4(DES):c.18G>A (p.Ser6=) rs199972656 0.00104
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp) rs28997569 0.00104
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe) rs41305898 0.00104
NM_201253.3(CRB1):c.2103C>G (p.Pro701=) rs144436610 0.00104
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00103
NM_000384.3(APOB):c.1124+18C>T rs200376021 0.00103
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=) rs147840220 0.00103
NM_001267550.2(TTN):c.94283G>A (p.Arg31428His) rs149375775 0.00103
NM_001355436.2(SPTB):c.1838G>T (p.Ser613Ile) rs3742601 0.00103
NM_001370466.1(NOD2):c.1211C>T (p.Ser404Leu) rs104895431 0.00103
NM_002317.7(LOX):c.322G>A (p.Gly108Ser) rs200554252 0.00103
NM_002691.4(POLD1):c.3054G>A (p.Val1018=) rs369613619 0.00103
NM_004239.4(TRIP11):c.5010T>C (p.Ala1670=) rs149334552 0.00103
NM_015512.5(DNAH1):c.1351A>G (p.Lys451Glu) rs76591348 0.00103
NM_018979.4(WNK1):c.3112-10C>T rs72650715 0.00103
NM_018979.4(WNK1):c.6643+18A>G rs72650769 0.00103
NM_024675.4(PALB2):c.1194G>A (p.Val398=) rs61755173 0.00103
NM_206933.4(USH2A):c.2256T>C (p.His752=) rs111033281 0.00103
NM_000093.5(COL5A1):c.3855C>T (p.Gly1285=) rs139544503 0.00102
NM_000173.7(GP1BA):c.732C>T (p.Tyr244=) rs200381725 0.00102
NM_000188.3(HK1):c.2226G>A (p.Glu742=) rs141211718 0.00102
NM_000398.7(CYB5R3):c.463+13G>A rs150048774 0.00102
NM_000436.4(OXCT1):c.1080T>C (p.Asp360=) rs140869022 0.00102
NM_000719.7(CACNA1C):c.5609C>T (p.Thr1870Met) rs201777030 0.00102
NM_001377.3(DYNC2H1):c.6918A>G (p.Ser2306=) rs368824340 0.00102
NM_001999.4(FBN2):c.3144C>T (p.Tyr1048=) rs1801167 0.00102
NM_001999.4(FBN2):c.6655A>G (p.Ile2219Val) rs140821039 0.00102
NM_006096.4(NDRG1):c.789G>A (p.Ser263=) rs61755062 0.00102
NM_133379.5(TTN):c.11254T>A (p.Ser3752Thr) rs144209883 0.00102
NM_144687.4(NLRP12):c.2386del (p.His796fs) rs539741111 0.00102
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399 0.00101
NM_000251.3(MSH2):c.819A>G (p.Val273=) rs146577635 0.00101
NM_000286.3(PEX12):c.722G>T (p.Gly241Val) rs139417458 0.00101
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994 0.00101
NM_001355436.2(SPTB):c.2060G>A (p.Arg687His) rs3742602 0.00101
NM_001364905.1(LRBA):c.1713C>T (p.His571=) rs145812385 0.00101
NM_003126.4(SPTA1):c.2655T>C (p.Arg885=) rs368544526 0.00101
NM_020975.6(RET):c.1157C>T (p.Ala386Val) rs115272158 0.00101
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00100
NM_000455.5(STK11):c.894C>A (p.Phe298Leu) rs199681533 0.00100
NM_000520.6(HEXA):c.1107C>T (p.Gly369=) rs140337137 0.00100
NM_001267550.2(TTN):c.1776T>C (p.Asp592=) rs147081804 0.00100
NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg) rs139052603 0.00100
NM_002972.4(SBF1):c.3765C>T (p.Tyr1255=) rs201985055 0.00100
NM_003239.5(TGFB3):c.164G>A (p.Ser55Asn) rs143229915 0.00100
NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=) rs148688181 0.00100
NM_005529.7(HSPG2):c.11671+11C>T rs368204073 0.00100
NM_024334.3(TMEM43):c.392+16G>A rs150859949 0.00100
NM_032578.4(MYPN):c.3792C>T (p.Tyr1264=) rs142307556 0.00100
NM_000518.5(HBB):c.316-70C>G rs193922560 0.00099
NM_001267550.2(TTN):c.35876-9T>C rs572783607 0.00099
NM_001267550.2(TTN):c.39296-13C>T rs372380420 0.00099
NM_020631.6(PLEKHG5):c.-88+6287G>A rs554689677 0.00099
NM_025132.4(WDR19):c.2715G>A (p.Lys905=) rs200339331 0.00099
NM_201596.3(CACNB2):c.1560T>C (p.Pro520=) rs150280879 0.00099
NM_000552.5(VWF):c.5312-19A>C rs200237834 0.00098
NM_001006658.3(CR2):c.2844G>A (p.Glu948=) rs61754518 0.00098
NM_001142864.4(PIEZO1):c.1849-6C>T rs780754421 0.00098
NM_001903.5(CTNNA1):c.301+20T>G rs201543087 0.00098
NM_020779.4(WDR35):c.1471-7A>G rs376388391 0.00098
NM_021625.5(TRPV4):c.854-4G>A rs371733585 0.00098
NM_022489.4(INF2):c.2848C>T (p.Arg950Trp) rs199873407 0.00098
NM_001009944.3(PKD1):c.10678G>A (p.Gly3560Arg) rs79000340 0.00097
NM_001103.4(ACTN2):c.2076C>T (p.Ile692=) rs144122893 0.00097
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=) rs371480338 0.00097
NM_001349206.2(LPIN1):c.1225C>G (p.Gln409Glu) rs146529487 0.00097
NM_003476.5(CSRP3):c.299G>A (p.Arg100His) rs138218523 0.00097
NM_006767.4(LZTR1):c.-11G>A rs370616172 0.00097
NM_007272.3(CTRC):c.555G>A (p.Thr185=) rs113087202 0.00097
NM_000059.4(BRCA2):c.6937+594T>G rs191253965 0.00096
NM_000238.4(KCNH2):c.1581G>A (p.Ala527=) rs150275982 0.00096
NM_000256.3(MYBPC3):c.2914C>T (p.Arg972Trp) rs193922382 0.00096
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=) rs56394008 0.00096
NM_000785.4(CYP27B1):c.1452G>A (p.Ala484=) rs8176349 0.00096
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859 0.00096
NM_001042492.3(NF1):c.*29A>G rs139147882 0.00096
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro) rs185683410 0.00096
NM_002109.6(HARS1):c.730-17G>A rs189624055 0.00096
NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=) rs139926138 0.00096
NM_007272.3(CTRC):c.494-6C>T rs111790169 0.00096
NM_021625.5(TRPV4):c.1913C>T (p.Pro638Leu) rs35058636 0.00096
NM_024753.5(TTC21B):c.3874-14T>C rs200347449 0.00096
NM_007294.4(BRCA1):c.3022A>G (p.Met1008Val) rs56321129 0.00095
NM_020779.4(WDR35):c.770T>C (p.Val257Ala) rs142955097 0.00095
NM_022124.6(CDH23):c.8980-12C>T rs111583276 0.00095
NM_003126.4(SPTA1):c.2889C>T (p.Asn963=) rs371639635 0.00094
NM_006231.4(POLE):c.1347G>A (p.Thr449=) rs142373951 0.00094
NM_017636.4(TRPM4):c.2740A>T (p.Lys914Ter) rs140799936 0.00094
NM_000037.4(ANK1):c.2132A>G (p.Tyr711Cys) rs139375455 0.00093
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln) rs147549623 0.00093
NM_000384.3(APOB):c.4838G>C (p.Ser1613Thr) rs61742247 0.00093
NM_000459.5(TEK):c.1900C>T (p.Leu634Phe) rs35378598 0.00093
NM_001013703.4(EIF2AK4):c.3129C>T (p.Ile1043=) rs148332808 0.00093
NM_001267550.2(TTN):c.65776G>A (p.Val21926Met) rs145527033 0.00093
NM_005529.7(HSPG2):c.10512C>T (p.His3504=) rs55875654 0.00093
NM_006031.6(PCNT):c.3457A>G (p.Ser1153Gly) rs140424584 0.00093
NM_021625.5(TRPV4):c.1284G>A (p.Gly428=) rs150773110 0.00093
NM_022041.4(GAN):c.283-20T>C rs371984923 0.00093
NM_001291303.3(FAT4):c.11619C>T (p.Cys3873=) rs141328606 0.00092
NM_001370466.1(NOD2):c.-8-7T>A rs104895421 0.00092
NM_002471.4(MYH6):c.1083G>T (p.Gly361=) rs138928022 0.00092
NM_003126.4(SPTA1):c.4339-126A>G rs376856911 0.00092
NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu) rs142047577 0.00092
NM_003242.6(TGFBR2):c.106A>G (p.Met36Val) rs17025864 0.00092
NM_017617.5(NOTCH1):c.1862G>A (p.Arg621His) rs138504021 0.00092
NM_018474.6(KIZ):c.405+10T>C rs372556437 0.00092
NM_053025.4(MYLK):c.3706A>G (p.Met1236Val) rs113124819 0.00092
NM_000138.5(FBN1):c.783T>C (p.Asn261=) rs113721547 0.00091
NM_000218.3(KCNQ1):c.619G>A (p.Val207Met) rs75813654 0.00091
NM_000283.4(PDE6B):c.145G>T (p.Asp49Tyr) rs79826315 0.00091
NM_000297.4(PKD2):c.1830G>A (p.Ala610=) rs144968710 0.00091
NM_000384.3(APOB):c.3509-11C>T rs200768300 0.00091
NM_001009944.3(PKD1):c.6665C>T (p.Ala2222Val) rs148496347 0.00091
NM_001105206.3(LAMA4):c.514G>A (p.Gly172Ser) rs147695488 0.00091
NM_001267550.2(TTN):c.58419A>G (p.Gln19473=) rs186563991 0.00091
NM_001530.4(HIF1A):c.1045G>A (p.Asp349Asn) rs142179458 0.00091
NM_002661.5(PLCG2):c.771T>C (p.His257=) rs369555285 0.00091
NM_003126.4(SPTA1):c.5310+17A>G rs371671685 0.00091
NM_003126.4(SPTA1):c.5457A>G (p.Leu1819=) rs186994154 0.00091
NM_004444.5(EPHB4):c.2484+11C>T rs201432441 0.00091
NM_032415.7(CARD11):c.180G>T (p.Val60=) rs117016854 0.00091
NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln) rs138842207 0.00090
NM_001360016.2(G6PD):c.-9+7G>C rs781989843 0.00090
NM_001370466.1(NOD2):c.552C>T (p.Ala184=) rs5743269 0.00090
NM_005422.4(TECTA):c.1002C>T (p.Asp334=) rs35282525 0.00090
NM_147127.5(EVC2):c.3272+7C>T rs201048030 0.00090
NM_213622.4(STAMBP):c.764G>A (p.Arg255His) rs146601260 0.00090
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu) rs363831 0.00089
NM_001142864.4(PIEZO1):c.6164+10C>T rs190051638 0.00089
NM_001142864.4(PIEZO1):c.849-10C>T rs190903475 0.00089
NM_001267550.2(TTN):c.48451A>G (p.Thr16151Ala) rs186497293 0.00089
NM_001277115.2(DNAH11):c.7811+4A>T rs374167556 0.00089
NM_001395413.1(POR):c.678C>T (p.Ala226=) rs72557906 0.00089
NM_004281.4(BAG3):c.1503C>A (p.Val501=) rs147277075 0.00089
NM_014874.4(MFN2):c.1641C>T (p.Leu547=) rs140924661 0.00089
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=) rs148240825 0.00089
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187 0.00088
NM_000059.4(BRCA2):c.5768A>C (p.Asp1923Ala) rs45491005 0.00088
NM_000465.4(BARD1):c.90T>A (p.Gly30=) rs150354152 0.00088
NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=) rs372702466 0.00088
NM_001267550.2(TTN):c.32462C>T (p.Pro10821Leu) rs146400809 0.00088
NM_001267550.2(TTN):c.41010T>C (p.Asp13670=) rs193191368 0.00088
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929 0.00088
NM_002972.4(SBF1):c.898-4G>A rs377428323 0.00088
NM_003978.5(PSTPIP1):c.418-20A>G rs545542379 0.00088
NM_006017.3(PROM1):c.714A>G (p.Gly238=) rs201662148 0.00088
NM_032415.7(CARD11):c.2060C>T (p.Ala687Val) rs41493047 0.00088
NM_053025.4(MYLK):c.3832-6C>T rs185681684 0.00088
NM_000088.4(COL1A1):c.4181A>G (p.Asn1394Ser) rs147266928 0.00087
NM_000546.6(TP53):c.994-17C>T rs368691910 0.00087
NM_001142864.4(PIEZO1):c.4668+12C>T rs368128554 0.00087
NM_001267550.2(TTN):c.95205C>T (p.Asp31735=) rs373182578 0.00087
NM_004415.4(DSP):c.7734C>T (p.Ser2578=) rs28763970 0.00087
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380 0.00086
NM_000329.3(RPE65):c.1129-14A>G rs113329701 0.00086
NM_000492.4(CFTR):c.4243-20A>G rs138025486 0.00086
NM_000535.7(PMS2):c.251-20T>G rs149343081 0.00086
NM_001370466.1(NOD2):c.1707G>A (p.Thr569=) rs104895437 0.00086
NM_001844.5(COL2A1):c.507C>T (p.Pro169=) rs143851987 0.00086
NM_002907.4(RECQL):c.1631A>T (p.Lys544Met) rs74067193 0.00086
NM_003073.5(SMARCB1):c.500+24C>G rs199737164 0.00086
NM_005529.7(HSPG2):c.8381G>A (p.Arg2794Gln) rs141563188 0.00086
NM_000088.4(COL1A1):c.3993C>T (p.Thr1331=) rs148659814 0.00085
NM_000558.5(HBA1):c.396T>C (p.Ser132=) rs149264789 0.00085
NM_001142864.4(PIEZO1):c.4997C>T (p.Ala1666Val) rs561397138 0.00085
NM_001190787.3(MCIDAS):c.162G>T (p.Gly54=) rs190259474 0.00085
NM_001457.4(FLNB):c.2494G>A (p.Ala832Thr) rs114804033 0.00085
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe) rs145393807 0.00085
NM_178452.6(DNAAF1):c.1354C>A (p.Pro452Thr) rs145680314 0.00085
NM_000178.4(GSS):c.1253G>A (p.Arg418Gln) rs150141794 0.00084
NM_001142864.4(PIEZO1):c.5874C>T (p.Thr1958=) rs150214594 0.00084
NM_004655.4(AXIN2):c.1985T>C (p.Leu662Pro) rs142476324 0.00084
NM_005529.7(HSPG2):c.10917C>T (p.Tyr3639=) rs111558823 0.00084
NM_000238.4(KCNH2):c.51C>G (p.Thr17=) rs144338227 0.00083
NM_001244008.2(KIF1A):c.2117-20C>T rs200852469 0.00083
NM_001375808.2(LPIN2):c.1876C>T (p.Pro626Ser) rs150806357 0.00083
NM_002473.6(MYH9):c.1242C>T (p.Ile414=) rs138436678 0.00083
NM_002907.4(RECQL):c.1099-17A>G rs369816935 0.00083
NM_003036.4(SKI):c.216C>T (p.Pro72=) rs756778048 0.00083
NM_003322.6(TULP1):c.190+20C>T rs563158279 0.00083
NM_004415.4(DSP):c.741G>A (p.Ala247=) rs2806234 0.00083
NM_005529.7(HSPG2):c.7096G>A (p.Gly2366Arg) rs140476180 0.00083
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe) rs137961578 0.00083
NM_014639.4(SKIC3):c.3093-9A>G rs201396030 0.00083
NM_014874.4(MFN2):c.1452G>A (p.Thr484=) rs150043585 0.00083
NM_001037.5(SCN1B):c.351C>T (p.Gly117=) rs3746255 0.00082
NM_001127671.2(LIFR):c.2934G>A (p.Gln978=) rs148354076 0.00082
NM_005751.5(AKAP9):c.5369T>G (p.Val1790Gly) rs151021935 0.00082
NM_022489.4(INF2):c.1950-10C>T rs199987321 0.00082
NM_000142.5(FGFR3):c.1923C>T (p.Asp641=) rs148104605 0.00081
NM_000352.6(ABCC8):c.4198+18C>T rs373178978 0.00081
NM_000365.6(TPI1):c.366C>T (p.Leu122=) rs138131191 0.00081
NM_000435.3(NOTCH3):c.1607-5C>A rs372869012 0.00081
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276 0.00081
NM_001081.4(CUBN):c.7210+9A>G rs117711403 0.00081
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00081
NM_001148.6(ANK2):c.7397G>A (p.Arg2466His) rs142078935 0.00081
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=) rs193022702 0.00081
NM_001374353.1(GLI2):c.4030G>T (p.Val1344Leu) rs145939921 0.00081
NM_001377.3(DYNC2H1):c.10845G>A (p.Pro3615=) rs187451323 0.00081
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090 0.00081
NM_153676.4(USH1C):c.114C>T (p.Asp38=) rs137962152 0.00081
NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu) rs142085247 0.00080
NM_001110556.2(FLNA):c.3805+16G>A rs201016252 0.00080
NM_001114753.3(ENG):c.617G>C (p.Gly206Ala) rs201393380 0.00080
NM_001142864.4(PIEZO1):c.3602C>T (p.Thr1201Met) rs372935580 0.00080
NM_001199397.3(NEK1):c.2940G>A (p.Ser980=) rs56252746 0.00080
NM_001277115.2(DNAH11):c.13049+15C>T rs200860431 0.00080
NM_080860.4(RSPH1):c.877+7T>A rs116369489 0.00080
NM_000540.3(RYR1):c.10119G>A (p.Val3373=) rs140689610 0.00079
NM_001267550.2(TTN):c.45174C>T (p.Gly15058=) rs372609980 0.00079
NM_001267550.2(TTN):c.88476C>G (p.Thr29492=) rs190406444 0.00079
NM_001291415.2(KDM6A):c.1907C>T (p.Thr636Met) rs141353229 0.00079
NM_004551.3(NDUFS3):c.99G>T (p.Pro33=) rs148226917 0.00079
NM_005422.4(TECTA):c.2367+9C>T rs368080945 0.00079
NM_005529.7(HSPG2):c.13145C>A (p.Ala4382Asp) rs116316900 0.00079
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=) rs373081328 0.00078
NM_000209.4(PDX1):c.165C>A (p.Gly55=) rs530567443 0.00078
NM_000399.5(EGR2):c.246C>G (p.Val82=) rs144217451 0.00078
NM_001003800.2(BICD2):c.72C>G (p.Ala24=) rs545512590 0.00078
NM_001084.5(PLOD3):c.1678G>C (p.Glu560Gln) rs140879834 0.00078
NM_001105206.3(LAMA4):c.2403G>A (p.Thr801=) rs142559688 0.00078
NM_001184.4(ATR):c.5987T>C (p.Met1996Thr) rs150339560 0.00078
NM_001235.5(SERPINH1):c.492C>T (p.Arg164=) rs150586616 0.00078
NM_001267550.2(TTN):c.54812-5A>G rs375343798 0.00078
NM_001376.5(DYNC1H1):c.2719-6C>T rs199763298 0.00078
NM_001376.5(DYNC1H1):c.5310C>T (p.Gly1770=) rs34013442 0.00078
NM_001430.5(EPAS1):c.1104G>A (p.Met368Ile) rs61757375 0.00078
NM_001918.5(DBT):c.327C>T (p.Thr109=) rs138796800 0.00078
NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met) rs111854563 0.00078
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=) rs376049260 0.00078
NM_005982.4(SIX1):c.330G>A (p.Arg110=) rs73309461 0.00078
NM_006254.4(PRKCD):c.315+9C>A rs200076653 0.00078
NM_007294.4(BRCA1):c.5278-22C>T rs185646848 0.00078
NM_015046.7(SETX):c.192A>G (p.Leu64=) rs117326462 0.00078
NM_015139.3(SLC35D1):c.814G>A (p.Ala272Thr) rs143218310 0.00078
NM_016169.4(SUFU):c.412G>A (p.Ala138Thr) rs34406289 0.00078
NM_053025.4(MYLK):c.373+18C>T rs140559450 0.00078
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=) rs35282988 0.00077
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn) rs121912705 0.00077
NM_004444.5(EPHB4):c.691C>T (p.Pro231Ser) rs147563837 0.00077
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=) rs148058006 0.00077
NM_032415.7(CARD11):c.3145-3C>T rs200456391 0.00077
NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr) rs370890951 0.00076
NM_000398.7(CYB5R3):c.471C>T (p.Phe157=) rs149158903 0.00076
NM_001142864.4(PIEZO1):c.7129+3G>A rs767465849 0.00076
NM_001243133.2(NLRP3):c.930C>T (p.Asp310=) rs143840033 0.00076
NM_001267550.2(TTN):c.63942G>A (p.Ser21314=) rs201285872 0.00076
NM_001282426.2(PIK3CG):c.1613C>T (p.Pro538Leu) rs142822484 0.00076
NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser) rs104895467 0.00076
NM_001458.5(FLNC):c.6175G>A (p.Val2059Met) rs201333104 0.00076
NM_001807.6(CEL):c.554G>A (p.Arg185Gln) rs141665160 0.00076
NM_002180.3(IGHMBP2):c.1060+8G>T rs201147313 0.00076
NM_003482.4(KMT2D):c.3572C>T (p.Pro1191Leu) rs112236653 0.00076
NM_004655.4(AXIN2):c.270C>T (p.Asp90=) rs141655687 0.00076
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr) rs146517083 0.00076
NM_015046.7(SETX):c.81C>T (p.Ser27=) rs149229231 0.00076
NM_032578.4(MYPN):c.2228C>T (p.Pro743Leu) rs138583865 0.00076
NM_000288.4(PEX7):c.339+10A>G rs374668045 0.00075
NM_000321.3(RB1):c.2566G>A (p.Asp856Asn) rs149359120 0.00075
NM_001110556.2(FLNA):c.3064C>G (p.Pro1022Ala) rs200150148 0.00075
NM_004655.4(AXIN2):c.1168A>G (p.Ser390Gly) rs139871607 0.00075
NM_022124.6(CDH23):c.4512C>G (p.Thr1504=) rs562273075 0.00075
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708 0.00074
NM_000316.3(PTH1R):c.313+4C>T rs200207404 0.00074
NM_000530.8(MPZ):c.504G>A (p.Val168=) rs145592910 0.00074
NM_001105206.3(LAMA4):c.1959T>C (p.Asp653=) rs143269044 0.00074
NM_001151.4(SLC25A4):c.252C>T (p.Thr84=) rs145413043 0.00074
NM_001267550.2(TTN):c.55929A>G (p.Gln18643=) rs151335428 0.00074
NM_006031.6(PCNT):c.4675A>T (p.Met1559Leu) rs180775012 0.00074
NM_177438.3(DICER1):c.2614G>A (p.Ala872Thr) rs149242330 0.00074
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=) rs117672175 0.00073
NM_000388.4(CASR):c.1285C>T (p.His429Tyr) rs142818334 0.00073
NM_001370259.2(MEN1):c.-22C>A rs374749001 0.00073
NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile) rs41263847 0.00073
NM_003060.4(SLC22A5):c.279G>C (p.Ser93=) rs377734902 0.00073
NM_006269.2(RP1):c.228C>T (p.Leu76=) rs142600056 0.00073
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp) rs138081804 0.00072
NM_003212.4(CRIPTO):c.325G>C (p.Asp109His) rs148619685 0.00072
NM_138295.5(PKD1L1):c.6898G>A (p.Val2300Ile) rs560253616 0.00072
NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu) rs1805125 0.00071
NM_001035.3(RYR2):c.1134C>T (p.Asp378=) rs193922621 0.00071
NM_001142864.4(PIEZO1):c.6144C>T (p.Ile2048=) rs372939960 0.00071
NM_001184.4(ATR):c.2226T>C (p.Cys742=) rs147895945 0.00071
NM_001457.4(FLNB):c.3288C>T (p.Ser1096=) rs77934864 0.00071
NM_002890.3(RASA1):c.1394G>A (p.Arg465His) rs181630831 0.00071
NM_004387.4(NKX2-5):c.124G>C (p.Ala42Pro) rs113818864 0.00071
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320 0.00071
NM_006231.4(POLE):c.6004+11A>G rs201591857 0.00071
NM_007272.3(CTRC):c.40+24G>A rs142888713 0.00071
NM_014822.4(SEC24D):c.2135A>C (p.Asn712Thr) rs146773641 0.00071
NM_021625.5(TRPV4):c.2472G>A (p.Ser824=) rs149988106 0.00071
NM_000138.5(FBN1):c.2934C>G (p.Asp978Glu) rs138438849 0.00070
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_000342.4(SLC4A1):c.615T>C (p.Asp205=) rs5038 0.00070
NM_000435.3(NOTCH3):c.4025C>A (p.Ala1342Asp) rs888391580 0.00070
NM_004984.4(KIF5A):c.1419G>A (p.Leu473=) rs139091551 0.00070
NM_005529.7(HSPG2):c.11671+5G>A rs77527456 0.00070
NM_177438.3(DICER1):c.3428T>C (p.Leu1143Pro) rs139786661 0.00070
NM_177438.3(DICER1):c.59C>T (p.Ala20Val) rs147660793 0.00070
NM_000037.4(ANK1):c.2844C>T (p.Arg948=) rs7001141 0.00069
NM_000088.4(COL1A1):c.3965G>A (p.Arg1322Lys) rs138544681 0.00069
NM_001009944.3(PKD1):c.8200C>A (p.Pro2734Thr) rs150568356 0.00069
NM_001142864.4(PIEZO1):c.2685C>T (p.Asn895=) rs533555270 0.00069
NM_001142864.4(PIEZO1):c.5773C>T (p.Arg1925Trp) rs201442593 0.00069
NM_002225.5(IVD):c.891G>A (p.Ala297=) rs138427412 0.00069
NM_003659.4(AGPS):c.64G>A (p.Ala22Thr) rs759572190 0.00069
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=) rs4987050 0.00069
NM_144687.4(NLRP12):c.2579C>G (p.Thr860Ser) rs150671525 0.00069
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154 0.00068
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu) rs2234704 0.00068
NM_001370466.1(NOD2):c.379G>A (p.Asp127Asn) rs146054564 0.00068
NM_001457.4(FLNB):c.4022C>G (p.Ala1341Gly) rs139269734 0.00068
NM_001854.4(COL11A1):c.489-7T>G rs372555374 0.00068
NM_006031.6(PCNT):c.4140G>A (p.Ala1380=) rs372175239 0.00068
NM_173477.5(USH1G):c.1012G>A (p.Gly338Arg) rs151242039 0.00068
NM_000037.4(ANK1):c.1404+15C>T rs201598401 0.00067
NM_000071.3(CBS):c.829-13G>A rs201106576 0.00067
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_000264.5(PTCH1):c.3633C>G (p.Pro1211=) rs56007343 0.00067
NM_000455.5(STK11):c.597+14del rs536282050 0.00067
NM_000478.6(ALPL):c.612C>T (p.Ile204=) rs141448778 0.00067
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys) rs146868519 0.00067
NM_001130823.3(DNMT1):c.2472G>A (p.Thr824=) rs45484792 0.00067
NM_001844.5(COL2A1):c.3384C>T (p.Gly1128=) rs145884117 0.00067
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930 0.00067
NM_000059.4(BRCA2):c.-15A>C rs138705202 0.00066
NM_000088.4(COL1A1):c.3099+7T>C rs201682029 0.00066
NM_000179.3(MSH6):c.1665A>G (p.Ala555=) rs146785465 0.00066
NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr) rs45563942 0.00066
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) rs72648237 0.00066
NM_001457.4(FLNB):c.4233C>G (p.Phe1411Leu) rs143831841 0.00066
NM_002972.4(SBF1):c.2034G>A (p.Thr678=) rs139798340 0.00066
NM_004006.3(DMD):c.4233+2C>T rs147474070 0.00066
NM_005529.7(HSPG2):c.12238-18G>A rs369294765 0.00066
NM_005633.4(SOS1):c.3391+7A>G rs201982464 0.00066
NM_000342.4(SLC4A1):c.884G>A (p.Arg295His) rs140424071 0.00065
NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=) rs148795690 0.00065
NM_001142864.4(PIEZO1):c.1495G>A (p.Val499Ile) rs530486445 0.00065
NM_001148.6(ANK2):c.6206G>A (p.Arg2069His) rs149645600 0.00065
NM_002180.3(IGHMBP2):c.548-10T>G rs139207271 0.00065
NM_002474.3(MYH11):c.633+1942T>C rs199755371 0.00065
NM_003036.4(SKI):c.1593T>C (p.Pro531=) rs144279718 0.00065
NM_005529.7(HSPG2):c.3794-3C>A rs141000672 0.00065
NM_005751.5(AKAP9):c.10254G>C (p.Gln3418His) rs61757663 0.00065
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=) rs142106322 0.00065
NM_000037.4(ANK1):c.2196+6G>A rs200761553 0.00064
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946 0.00064
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp) rs41557217 0.00064
NM_000302.4(PLOD1):c.804C>T (p.Thr268=) rs140758113 0.00064
NM_001005373.4(LRSAM1):c.406+15G>T rs201808404 0.00064
NM_001148.6(ANK2):c.8979A>G (p.Ile2993Met) rs112252825 0.00064
NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala) rs377289817 0.00064
NM_001377.3(DYNC2H1):c.1135-11_1135-8del rs551487728 0.00064
NM_001377.3(DYNC2H1):c.5449A>G (p.Met1817Val) rs200208000 0.00064
NM_002834.5(PTPN11):c.526-8C>A rs184804143 0.00064
NM_004655.4(AXIN2):c.1250C>T (p.Ala417Val) rs201460658 0.00064
NM_012186.3(FOXE3):c.929G>A (p.Gly310Asp) rs571095192 0.00064
NM_198859.4(PRICKLE2):c.1314G>C (p.Gln438His) rs202170644 0.00064
NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe) rs150528041 0.00064
NM_000037.4(ANK1):c.4022C>T (p.Ser1341Leu) rs145562489 0.00063
NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp) rs148046938 0.00063
NM_000719.7(CACNA1C):c.5451C>T (p.His1817=) rs113239186 0.00063
NM_001195248.2(APTX):c.513G>A (p.Leu171=) rs140888559 0.00063
NM_001199397.3(NEK1):c.2137G>A (p.Val713Met) rs199827465 0.00063
NM_001267550.2(TTN):c.72587G>A (p.Arg24196His) rs200317412 0.00063
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys) rs56341835 0.00063
NM_001355436.2(SPTB):c.5855T>C (p.Ile1952Thr) rs138039383 0.00063
NM_001377.3(DYNC2H1):c.7708+9A>G rs375081757 0.00063
NM_032578.4(MYPN):c.2925+18C>T rs372714890 0.00063
NM_001173467.3(SP7):c.1272G>A (p.Glu424=) rs182820275 0.00062
NM_001366110.1(PAX4):c.1013C>T (p.Ala338Val) rs2233583 0.00062
NM_001844.5(COL2A1):c.3723C>T (p.Ala1241=) rs200993187 0.00062
NM_003659.4(AGPS):c.1380A>C (p.Pro460=) rs148418568 0.00062
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526 0.00062
NM_005529.7(HSPG2):c.732A>G (p.Thr244=) rs139842104 0.00062
NM_000088.4(COL1A1):c.1461+13G>T rs371161009 0.00061
NM_001009944.3(PKD1):c.3369C>T (p.Arg1123=) rs143449093 0.00061
NM_001009944.3(PKD1):c.4856C>T (p.Ser1619Phe) rs146723506 0.00061
NM_001142864.4(PIEZO1):c.635-4G>A rs372188504 0.00061
NM_001244008.2(KIF1A):c.4749C>T (p.Ser1583=) rs371737085 0.00061
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala) rs200771189 0.00061
NM_001378454.1(ALMS1):c.11223G>A (p.Glu3741=) rs28730859 0.00061
NM_001943.5(DSG2):c.852T>C (p.Asn284=) rs62095193 0.00061
NM_002180.3(IGHMBP2):c.1290C>T (p.Tyr430=) rs140654955 0.00061
NM_002474.3(MYH11):c.2049C>T (p.His683=) rs150924100 0.00061
NM_003060.4(SLC22A5):c.1441G>A (p.Val481Ile) rs11568513 0.00061
NM_005751.5(AKAP9):c.10118C>A (p.Ser3373Tyr) rs140470576 0.00061
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600 0.00061
NM_017802.4(DNAAF5):c.640C>G (p.Gln214Glu) rs149980915 0.00061
NM_018979.4(WNK1):c.4354A>G (p.Thr1452Ala) rs142543401 0.00061
NM_032415.7(CARD11):c.2670G>A (p.Ser890=) rs146545469 0.00061
NM_138477.4(CDAN1):c.2743T>C (p.Leu915=) rs149472555 0.00061
NM_203486.3(DLL3):c.153C>T (p.Ser51=) rs373980582 0.00061
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955 0.00060
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser) rs189557655 0.00060
NM_000455.5(STK11):c.945G>A (p.Pro315=) rs376329042 0.00060
NM_000552.5(VWF):c.3719C>T (p.Pro1240Leu) rs150576611 0.00060
NM_001098512.3(PRKG1):c.39G>A (p.Met13Ile) rs202017913 0.00060
NM_001142864.4(PIEZO1):c.3699+6C>T rs147726156 0.00060
NM_001267550.2(TTN):c.59322A>G (p.Pro19774=) rs188063446 0.00060
NM_001458.5(FLNC):c.1519G>A (p.Gly507Arg) rs189525930 0.00060
NM_003659.4(AGPS):c.637+13C>T rs182602770 0.00060
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg) rs143326964 0.00060
NM_006031.6(PCNT):c.5815C>T (p.Arg1939Trp) rs575313866 0.00060
NM_007272.3(CTRC):c.640-14C>T rs202049497 0.00060
NM_014236.4(GNPAT):c.2031T>C (p.Thr677=) rs150459993 0.00060
NM_019844.4(SLCO1B3):c.1593A>G (p.Thr531=) rs142694767 0.00060
NM_000059.4(BRCA2):c.10121C>T (p.Thr3374Ile) rs56309455 0.00059
NM_000088.4(COL1A1):c.3571C>G (p.Pro1191Ala) rs142570406 0.00059
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) rs63750897 0.00059
NM_000431.4(MVK):c.441C>T (p.Ala147=) rs138342076 0.00059
NM_000435.3(NOTCH3):c.6532C>T (p.Pro2178Ser) rs751951476 0.00059
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val) rs200509641 0.00059
NM_001142864.4(PIEZO1):c.6205G>A (p.Val2069Met) rs199752762 0.00059
NM_001277115.2(DNAH11):c.10740C>G (p.Arg3580=) rs114916492 0.00059
NM_001376.5(DYNC1H1):c.12258C>T (p.Thr4086=) rs141242095 0.00059
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222 0.00059
NM_006031.6(PCNT):c.6151-9C>T rs200571944 0.00059
NM_015915.5(ATL1):c.669C>T (p.Tyr223=) rs146975855 0.00059
NM_177438.3(DICER1):c.5203C>T (p.Leu1735=) rs188609628 0.00059
NM_000093.5(COL5A1):c.341C>A (p.Ala114Asp) rs147589613 0.00058
NM_000093.5(COL5A1):c.996C>T (p.Asp332=) rs144763302 0.00058
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=) rs200663253 0.00058
NM_000257.4(MYH7):c.2514G>A (p.Pro838=) rs45560638 0.00058
NM_000518.5(HBB):c.316-37G>T rs193922559 0.00058
NM_000719.7(CACNA1C):c.4317C>T (p.Asn1439=) rs183192651 0.00058
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=) rs146300431 0.00058
NM_001395413.1(POR):c.1806+12G>A rs371432868 0.00058
NM_004239.4(TRIP11):c.5887G>A (p.Ala1963Thr) rs61742059 0.00058
NM_004329.3(BMPR1A):c.1419T>G (p.Val473=) rs145756629 0.00058
NM_022114.4(PRDM16):c.2603+6C>T rs374549827 0.00058
NM_022489.4(INF2):c.*16C>T rs199912466 0.00058
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro) rs149522412 0.00058
NM_000037.4(ANK1):c.1467G>A (p.Leu489=) rs148165519 0.00057
NM_000037.4(ANK1):c.1483A>C (p.Asn495His) rs143839208 0.00057
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His) rs144797861 0.00057
NM_000093.5(COL5A1):c.2096C>T (p.Thr699Met) rs142313124 0.00057
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584 0.00057
NM_001370466.1(NOD2):c.1330C>T (p.Arg444Cys) rs1078327 0.00057
NM_001458.5(FLNC):c.2390-8C>G rs146063718 0.00057
NM_001753.5(CAV1):c.463G>A (p.Val155Ile) rs150368249 0.00057
NM_002474.3(MYH11):c.12G>A (p.Lys4=) rs112650390 0.00057
NM_005422.4(TECTA):c.4611C>T (p.Pro1537=) rs138477419 0.00057
NM_016938.5(EFEMP2):c.27C>G (p.Pro9=) rs144817331 0.00057
NM_018706.7(DHTKD1):c.1041G>A (p.Thr347=) rs181104203 0.00057
NM_020822.3(KCNT1):c.3685A>G (p.Thr1229Ala) rs74533482 0.00057
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540 0.00056
NM_001142864.4(PIEZO1):c.997C>T (p.Arg333Cys) rs143004911 0.00056
NM_001267550.2(TTN):c.296-14T>C rs199951296 0.00056
NM_001267550.2(TTN):c.68792G>A (p.Ser22931Asn) rs201567815 0.00056
NM_001267550.2(TTN):c.92362G>A (p.Gly30788Ser) rs199891245 0.00056
NM_001370658.1(BTD):c.252T>C (p.Asp84=) rs138545268 0.00056
NM_001378964.1(CDON):c.1263T>C (p.Phe421=) rs191544852 0.00056
NM_001844.5(COL2A1):c.195C>T (p.Asp65=) rs202210896 0.00056
NM_002474.3(MYH11):c.429G>A (p.Lys143=) rs200672270 0.00056
NM_004656.4(BAP1):c.294C>T (p.Ser98=) rs140641333 0.00056
NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp) rs140929639 0.00056
NM_004999.4(MYO6):c.875T>C (p.Leu292Ser) rs144038082 0.00056
NM_015340.4(LARS2):c.1989G>T (p.Arg663=) rs139111439 0.00056
NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly) rs201354264 0.00056
NM_001009944.3(PKD1):c.12139-5C>T rs146430229 0.00055
NM_001127671.2(LIFR):c.3087A>G (p.Arg1029=) rs138418444 0.00055
NM_001370466.1(NOD2):c.2057G>A (p.Arg686His) rs104895483 0.00055
NM_004612.4(TGFBR1):c.46G>A (p.Val16Met) rs1021523079 0.00055
NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr) rs116952709 0.00055
NM_000089.4(COL1A2):c.3613C>T (p.Arg1205Trp) rs150124840 0.00054
NM_000093.5(COL5A1):c.597C>G (p.Ile199Met) rs147008954 0.00054
NM_000218.3(KCNQ1):c.1332G>A (p.Thr444=) rs144985256 0.00054
NM_000350.3(ABCA4):c.981C>T (p.Pro327=) rs61753057 0.00054
NM_002471.4(MYH6):c.3573C>T (p.Ala1191=) rs727505358 0.00054
NM_004006.3(DMD):c.3020C>T (p.Ser1007Leu) rs144732570 0.00054
NM_006579.3(EBP):c.512G>A (p.Arg171His) rs144209735 0.00054
NM_007194.4(CHEK2):c.793-11G>A rs5997387 0.00054
NM_007294.4(BRCA1):c.301+8T>C rs80358101 0.00054
NM_015271.5(TRIM2):c.2055G>A (p.Lys685=) rs138490175 0.00054
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=) rs148024160 0.00053
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457 0.00053
NM_000264.5(PTCH1):c.1847+14C>T rs202007968 0.00053
NM_000455.5(STK11):c.426C>T (p.Ser142=) rs758448869 0.00053
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln) rs147992238 0.00053
NM_001130823.3(DNMT1):c.3492C>T (p.Cys1164=) rs140951214 0.00053
NM_001142864.4(PIEZO1):c.7153G>A (p.Val2385Met) rs369319123 0.00053
NM_001330.5(CTF1):c.280C>T (p.Leu94=) rs397516648 0.00053
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser) rs140985224 0.00053
NM_002180.3(IGHMBP2):c.2360C>T (p.Pro787Leu) rs141594765 0.00053
NM_002472.3(MYH8):c.1731G>C (p.Glu577Asp) rs75160168 0.00053
NM_002474.3(MYH11):c.3031T>C (p.Leu1011=) rs112861184 0.00053
NM_002972.4(SBF1):c.3905-9C>T rs574807761 0.00053
NM_005529.7(HSPG2):c.11256G>A (p.Leu3752=) rs144122107 0.00053
NM_006231.4(POLE):c.6495C>T (p.Arg2165=) rs114778730 0.00053
NM_017636.4(TRPM4):c.3641-17T>G rs369065473 0.00053
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=) rs138986228 0.00053
NM_031942.5(CDCA7):c.745A>C (p.Arg249=) rs146148251 0.00053
NM_000478.6(ALPL):c.468C>T (p.Asp156=) rs143621566 0.00052
NM_001105206.3(LAMA4):c.674C>T (p.Ala225Val) rs149615862 0.00052
NM_001148.6(ANK2):c.9046G>A (p.Glu3016Lys) rs149963885 0.00052
NM_001177316.2(SLC34A3):c.1453C>T (p.Arg485Cys) rs145029982 0.00052
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=) rs376810671 0.00052
NM_002474.3(MYH11):c.1732A>G (p.Ile578Val) rs111936548 0.00052
NM_133459.4(CCBE1):c.265+8A>C rs181010692 0.00052
NM_000018.4(ACADVL):c.1473A>G (p.Leu491=) rs150518187 0.00051
NM_000071.3(CBS):c.829-14C>T rs370697155 0.00051
NM_000089.4(COL1A2):c.595-16A>G rs143041120 0.00051
NM_000095.3(COMP):c.218-7C>G rs554031979 0.00051
NM_000178.4(GSS):c.1203C>T (p.Ile401=) rs138574949 0.00051
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu) rs121912759 0.00051
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00051
NM_001009944.3(PKD1):c.6979C>T (p.Arg2327Trp) rs184394342 0.00051
NM_001009944.3(PKD1):c.9506G>A (p.Arg3169Gln) rs375378535 0.00051
NM_001029883.3(PCARE):c.1582C>T (p.Arg528Cys) rs80151896 0.00051
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=) rs370332882 0.00051
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met) rs200236750 0.00051
NM_001110556.2(FLNA):c.6907+14G>T rs199934017 0.00051
NM_001142864.4(PIEZO1):c.4371G>A (p.Ala1457=) rs565293295 0.00051
NM_001243279.3(ACSF3):c.978-7C>T rs190927208 0.00051
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu) rs201571580 0.00051
NM_001282426.2(PIK3CG):c.2760+20C>T rs200932463 0.00051
NM_001366110.1(PAX4):c.116G>A (p.Arg39Gln) rs115887120 0.00051
NM_001370466.1(NOD2):c.2672C>A (p.Ala891Asp) rs104895452 0.00051
NM_001375808.2(LPIN2):c.1043C>T (p.Pro348Leu) rs34676691 0.00051
NM_001377.3(DYNC2H1):c.33C>T (p.Leu11=) rs373977008 0.00051
NM_002667.5(PLN):c.27C>T (p.Arg9=) rs145623013 0.00051
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056 0.00051
NM_005529.7(HSPG2):c.1557G>A (p.Leu519=) rs149710901 0.00051
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_015340.4(LARS2):c.2211T>C (p.Ser737=) rs371382425 0.00051
NM_016203.4(PRKAG2):c.1318C>T (p.His440Tyr) rs201878539 0.00051
NM_019844.4(SLCO1B3):c.1857A>T (p.Val619=) rs143827641 0.00051
NM_021625.5(TRPV4):c.769C>G (p.Leu257Val) rs56217500 0.00051
NM_000132.4(F8):c.5430T>G (p.Ser1810=) rs142177821 0.00050
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_001013703.4(EIF2AK4):c.744-11T>G rs201918333 0.00050
NM_001360016.2(G6PD):c.1457+31C>G rs373239864 0.00050
NM_006254.4(PRKCD):c.1362C>T (p.Ala454=) rs41295962 0.00050
NM_024753.5(TTC21B):c.1650A>G (p.Glu550=) rs145926679 0.00050
NM_198253.3(TERT):c.2106G>A (p.Pro702=) rs151055240 0.00050
NM_203486.3(DLL3):c.1356C>T (p.Val452=) rs554268445 0.00050
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser) rs146166400 0.00049
NM_000540.3(RYR1):c.9261C>T (p.Ile3087=) rs56338790 0.00049
NM_001148.6(ANK2):c.231G>A (p.Val77=) rs149699185 0.00049
NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly) rs147946775 0.00049
NM_001267550.2(TTN):c.31806C>T (p.Pro10602=) rs370080995 0.00049
NM_001395413.1(POR):c.390C>T (p.Asn130=) rs181837747 0.00049
NM_002230.4(JUP):c.1054+7A>T rs371988639 0.00049
NM_003126.4(SPTA1):c.3960C>T (p.Asp1320=) rs186415745 0.00049
NM_004168.4(SDHA):c.723C>T (p.Asp241=) rs146653693 0.00049
NM_004239.4(TRIP11):c.4620T>C (p.Val1540=) rs72705400 0.00049
NM_012418.4(FSCN2):c.538C>T (p.Arg180Trp) rs200332556 0.00049
NM_020297.4(ABCC9):c.4512+16C>T rs376147813 0.00049
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745 0.00048
NM_000098.3(CPT2):c.1598T>C (p.Val533Ala) rs144703247 0.00048
NM_000142.5(FGFR3):c.1959+8C>T rs371666188 0.00048
NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys) rs3729712 0.00048
NM_000435.3(NOTCH3):c.945C>T (p.Ile315=) rs116239440 0.00048
NM_001013703.4(EIF2AK4):c.3123T>G (p.Pro1041=) rs55727287 0.00048
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_001114134.2(EPB42):c.1602G>A (p.Thr534=) rs149742998 0.00048
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu) rs144245125 0.00048
NM_001355436.2(SPTB):c.3479G>A (p.Arg1160His) rs76283214 0.00048
NM_001355436.2(SPTB):c.4075C>T (p.Arg1359Trp) rs189656371 0.00048
NM_001365088.1(SLC12A6):c.2613C>T (p.Arg871=) rs144297460 0.00048
NM_001370259.2(MEN1):c.1049+9C>T rs200517349 0.00048
NM_001379610.1(SPINK1):c.33C>T (p.Ala11=) rs147454311 0.00048
NM_002474.3(MYH11):c.3973C>G (p.Gln1325Glu) rs150033906 0.00048
NM_004281.4(BAG3):c.855G>A (p.Thr285=) rs147259596 0.00048
NM_018979.4(WNK1):c.915G>A (p.Thr305=) rs72648609 0.00048
NM_020433.5(JPH2):c.572C>G (p.Pro191Arg) rs554853074 0.00048
NM_022489.4(INF2):c.1144A>G (p.Ser382Gly) rs201077878 0.00048
NM_170707.4(LMNA):c.789G>A (p.Leu263=) rs148557956 0.00048
NM_000059.4(BRCA2):c.9411T>G (p.Thr3137=) rs1799968 0.00047
NM_000093.5(COL5A1):c.3906+20G>A rs148053413 0.00047
NM_001065.4(TNFRSF1A):c.987C>T (p.Leu329=) rs138261783 0.00047
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln) rs140714512 0.00047
NM_001395413.1(POR):c.633-5C>G rs72555509 0.00047
NM_001999.4(FBN2):c.6841A>T (p.Ile2281Phe) rs115223340 0.00047
NM_002028.4(FNTB):c.209+1976G>T rs201052112 0.00047
NM_016239.4(MYO15A):c.3203G>T (p.Cys1068Phe) rs189061214 0.00047
NM_016529.6(ATP8A2):c.2169G>A (p.Ser723=) rs41300574 0.00047
NM_024426.6(WT1):c.1131T>C (p.Pro377=) rs151034312 0.00047
NM_153717.3(EVC):c.175-18C>G rs114621329 0.00047
NM_000051.4(ATM):c.1986T>C (p.Phe662=) rs1800055 0.00046
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687 0.00046
NM_000298.6(PKLR):c.507+14C>A rs201156800 0.00046
NM_000492.4(CFTR):c.274-6T>C rs371315549 0.00046
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys) rs202029322 0.00046
NM_001110556.2(FLNA):c.3717C>T (p.Pro1239=) rs372265042 0.00046
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser) rs200198847 0.00046
NM_001267550.2(TTN):c.47955A>G (p.Pro15985=) rs192953152 0.00046
NM_001267550.2(TTN):c.52110G>A (p.Pro17370=) rs139789997 0.00046
NM_001844.5(COL2A1):c.4074+12G>T rs201312340 0.00046
NM_001844.5(COL2A1):c.4350C>T (p.Ile1450=) rs137948104 0.00046
NM_002474.3(MYH11):c.3816G>A (p.Glu1272=) rs112990531 0.00046
NM_002863.5(PYGL):c.30G>A (p.Lys10=) rs140912135 0.00046
NM_003036.4(SKI):c.1734C>T (p.Ser578=) rs117443908 0.00046
NM_006363.6(SEC23B):c.1665+6T>C rs371786580 0.00046
NM_006939.4(SOS2):c.1071A>G (p.Gln357=) rs111961549 0.00046
NM_007272.3(CTRC):c.231-14C>T rs374364850 0.00046
NM_014920.5(CILK1):c.453A>G (p.Arg151=) rs149467924 0.00046
NM_021625.5(TRPV4):c.898A>G (p.Ile300Val) rs114612488 0.00046
NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559 0.00046
NM_030973.4(MED25):c.664C>T (p.Leu222=) rs147538736 0.00046
NM_147127.5(EVC2):c.1452G>A (p.Leu484=) rs137884710 0.00046
NM_000059.4(BRCA2):c.5879G>A (p.Cys1960Tyr) rs56157628 0.00045
NM_001048174.2(MUTYH):c.914-9C>T rs3219488 0.00045
NM_001142864.4(PIEZO1):c.6164+12C>T rs756049905 0.00045
NM_001243133.2(NLRP3):c.1245C>T (p.Ile415=) rs139852370 0.00045
NM_001244008.2(KIF1A):c.3330G>A (p.Ala1110=) rs200149062 0.00045
NM_001270508.2(TNFAIP3):c.2364G>A (p.Met788Ile) rs143002189 0.00045
NM_001375808.2(LPIN2):c.2568C>T (p.Leu856=) rs149862905 0.00045
NM_001498.4(GCLC):c.1703-8G>A rs183803178 0.00045
NM_002907.4(RECQL):c.1088A>G (p.Asn363Ser) rs138663409 0.00045
NM_004004.6(GJB2):c.*1C>T rs111033327 0.00045
NM_016239.4(MYO15A):c.858C>G (p.Pro286=) rs200424851 0.00045
NM_020631.6(PLEKHG5):c.1236G>A (p.Thr412=) rs376823275 0.00045
NM_053025.4(MYLK):c.999G>A (p.Pro333=) rs13319347 0.00045
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728 0.00044
NM_000088.4(COL1A1):c.3102T>C (p.Gly1034=) rs147743501 0.00044
NM_000342.4(SLC4A1):c.457C>A (p.Leu153Met) rs145041032 0.00044
NM_001009944.3(PKD1):c.7575C>T (p.Phe2525=) rs144409293 0.00044
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser) rs200696965 0.00044
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile) rs142334798 0.00044
NM_004004.6(GJB2):c.-22-6T>C rs141962118 0.00044
NM_005529.7(HSPG2):c.1654+22C>T rs367553961 0.00044
NM_021939.4(FKBP10):c.1290C>T (p.Leu430=) rs143450797 0.00044
NM_030777.4(SLC2A10):c.1548-19C>T rs144623242 0.00044
NM_033118.4(MYLK2):c.834T>A (p.Asn278Lys) rs41293104 0.00044
NM_000141.5(FGFR2):c.34G>A (p.Val12Met) rs143978938 0.00043
NM_000302.4(PLOD1):c.579+17G>A rs181015965 0.00043
NM_000335.5(SCN5A):c.1479G>A (p.Arg493=) rs138870926 0.00043
NM_000435.3(NOTCH3):c.2411-11C>A rs201130717 0.00043
NM_000548.5(TSC2):c.3610+6G>A rs45517301 0.00043
NM_001105206.3(LAMA4):c.254A>G (p.Asn85Ser) rs145301300 0.00043
NM_001142864.4(PIEZO1):c.1232C>T (p.Pro411Leu) rs369091041 0.00043
NM_001142864.4(PIEZO1):c.1679G>A (p.Arg560Gln) rs371837534 0.00043
NM_001267550.2(TTN):c.34856-17A>G rs188686309 0.00043
NM_001355436.2(SPTB):c.2303G>A (p.Gly768Asp) rs147712872 0.00043
NM_001377.3(DYNC2H1):c.7540+20A>G rs535988847 0.00043
NM_001457.4(FLNB):c.1196A>G (p.Lys399Arg) rs145673747 0.00043
NM_002972.4(SBF1):c.549+10G>A rs187441948 0.00043
NM_021625.5(TRPV4):c.1539C>T (p.Gly513=) rs141295418 0.00043
NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu) rs140382957 0.00043
NM_000133.4(F9):c.8G>A (p.Arg3His) rs148060786 0.00042
NM_000138.5(FBN1):c.2148A>G (p.Gly716=) rs141039922 0.00042
NM_000891.3(KCNJ2):c.1200G>A (p.Thr400=) rs201253055 0.00042
NM_001009944.3(PKD1):c.7703+23G>A rs751928868 0.00042
NM_001999.4(FBN2):c.7012+7G>A rs199735209 0.00042
NM_014014.5(SNRNP200):c.2800A>G (p.Thr934Ala) rs149616320 0.00042
NM_144687.4(NLRP12):c.559G>A (p.Val187Met) rs147355465 0.00042
NM_147127.5(EVC2):c.3468G>A (p.Leu1156=) rs201460514 0.00042
NM_000337.6(SGCD):c.543T>G (p.Pro181=) rs200451694 0.00041
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser) rs147420365 0.00041
NM_000435.3(NOTCH3):c.3629G>A (p.Arg1210His) rs35031555 0.00041
NM_000492.4(CFTR):c.3469-17T>C rs199630678 0.00041
NM_001006658.3(CR2):c.1152C>T (p.Thr384=) rs145709085 0.00041
NM_001267550.2(TTN):c.79863G>A (p.Thr26621=) rs186402008 0.00041
NM_001270508.2(TNFAIP3):c.465G>A (p.Thr155=) rs140424499 0.00041
NM_001355436.2(SPTB):c.1303G>C (p.Glu435Gln) rs149521594 0.00041
NM_001370466.1(NOD2):c.1693G>A (p.Val565Met) rs148683734 0.00041
NM_001370466.1(NOD2):c.258C>T (p.Asp86=) rs138889062 0.00041
NM_001498.4(GCLC):c.852C>G (p.Pro284=) rs17879847 0.00041
NM_001605.3(AARS1):c.1428G>C (p.Arg476=) rs80257731 0.00041
NM_003978.5(PSTPIP1):c.203C>T (p.Thr68Met) rs201872851 0.00041
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121 0.00041
NM_005428.4(VAV1):c.2161A>T (p.Met721Leu) rs149330066 0.00041
NM_005902.4(SMAD3):c.207-26779C>T rs539491144 0.00041
NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr) rs138962786 0.00041
NM_006363.6(SEC23B):c.221+159G>A rs564238712 0.00041
NM_006892.4(DNMT3B):c.1035C>T (p.Ile345=) rs150148922 0.00041
NM_006939.4(SOS2):c.2317G>C (p.Asp773His) rs114711076 0.00041
NM_006996.3(SLC19A2):c.1093A>T (p.Thr365Ser) rs150049339 0.00041
NM_021625.5(TRPV4):c.1491+10C>T rs201815805 0.00041
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637 0.00041
NM_053025.4(MYLK):c.1991A>G (p.Gln664Arg) rs200273207 0.00041
NM_144687.4(NLRP12):c.2927+11G>A rs376043494 0.00041
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=) rs144418713 0.00041
NM_000089.4(COL1A2):c.1008C>T (p.Ala336=) rs138357977 0.00040
NM_000321.3(RB1):c.411A>T (p.Glu137Asp) rs3092902 0.00040
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074 0.00040
NM_000517.6(HBA2):c.95+39C>G rs1025977498 0.00040
NM_001003800.2(BICD2):c.1893C>T (p.Ile631=) rs141414055 0.00040
NM_001270508.2(TNFAIP3):c.295+11T>C rs367719917 0.00040
NM_002972.4(SBF1):c.1432-12G>A rs377210668 0.00040
NM_004006.3(DMD):c.2490C>T (p.Asn830=) rs72468679 0.00040
NM_004281.4(BAG3):c.888C>T (p.His296=) rs139399890 0.00040
NM_004990.4(MARS1):c.792G>A (p.Arg264=) rs141609469 0.00040
NM_005529.7(HSPG2):c.4396-5C>T rs117917442 0.00040
NM_006363.6(SEC23B):c.519G>A (p.Val173=) rs138314893 0.00040
NM_023110.3(FGFR1):c.1553-13G>A rs17182414 0.00040
NM_053025.4(MYLK):c.3653-10_3653-8del rs576620371 0.00040
NM_144687.4(NLRP12):c.2384G>A (p.Arg795Gln) rs373954247 0.00040
NM_000037.4(ANK1):c.2167C>A (p.His723Asn) rs150899388 0.00039
NM_000052.7(ATP7A):c.2452A>G (p.Thr818Ala) rs201788154 0.00039
NM_000132.4(F8):c.6115+27C>T rs375609267 0.00039
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser) rs181834806 0.00039
NM_000493.4(COL10A1):c.1312G>A (p.Glu438Lys) rs199868902 0.00039
NM_000535.7(PMS2):c.1560G>A (p.Ala520=) rs201167814 0.00039
NM_001009944.3(PKD1):c.11015G>A (p.Arg3672Gln) rs201220835 0.00039
NM_001084.5(PLOD3):c.129T>C (p.Thr43=) rs138623639 0.00039
NM_001267550.2(TTN):c.59319G>A (p.Glu19773=) rs367622770 0.00039
NM_001370466.1(NOD2):c.2490C>T (p.Asp830=) rs144083291 0.00039
NM_001876.4(CPT1A):c.336C>T (p.Thr112=) rs61731902 0.00039
NM_001999.4(FBN2):c.209T>C (p.Val70Ala) rs144149249 0.00039
NM_002972.4(SBF1):c.2569+4C>T rs200379541 0.00039
NM_003200.5(TCF3):c.136G>A (p.Gly46Arg) rs143529809 0.00039
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile) rs56105708 0.00039
NM_014874.4(MFN2):c.1827C>T (p.Ser609=) rs138724074 0.00039
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser) rs148174226 0.00039
NM_000051.4(ATM):c.6795C>T (p.Phe2265=) rs3218699 0.00038
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00038
NM_000088.4(COL1A1):c.1132C>G (p.Pro378Ala) rs764381074 0.00038
NM_000182.5(HADHA):c.1153C>T (p.Leu385=) rs139485335 0.00038
NM_000218.3(KCNQ1):c.1860C>T (p.His620=) rs139893266 0.00038
NM_000251.3(MSH2):c.1511-41G>C rs202215396 0.00038
NM_000398.7(CYB5R3):c.734-8C>T rs371034075 0.00038
NM_001035.3(RYR2):c.11246-11del rs397516503 0.00038
NM_001035.3(RYR2):c.11496C>T (p.Asp3832=) rs397516505 0.00038
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys) rs200092869 0.00038
NM_001142864.4(PIEZO1):c.1112T>G (p.Val371Gly) rs191302762 0.00038
NM_001159702.3(FHL1):c.-26-9547G>A rs192893870 0.00038
NM_001244008.2(KIF1A):c.2813G>A (p.Arg938Gln) rs192102667 0.00038
NM_001605.3(AARS1):c.741G>A (p.Leu247=) rs148075561 0.00038
NM_002972.4(SBF1):c.142-3C>T rs191369963 0.00038
NM_003923.3(FOXH1):c.361C>A (p.Arg121=) rs371301968 0.00038
NM_005184.4(CALM3):c.183C>T (p.Asn61=) rs3729761 0.00038
NM_006031.6(PCNT):c.7259C>T (p.Pro2420Leu) rs144633170 0.00038
NM_006736.6(DNAJB2):c.703C>G (p.Gln235Glu) rs148615702 0.00038
NM_021167.5(GATAD1):c.249+13G>A rs548757932 0.00038
NM_022489.4(INF2):c.2181G>A (p.Ala727=) rs370830904 0.00038
NM_144687.4(NLRP12):c.1495A>G (p.Ile499Val) rs146903616 0.00038
NM_000093.5(COL5A1):c.3402C>T (p.Asp1134=) rs138251296 0.00037
NM_000098.3(CPT2):c.1602G>A (p.Glu534=) rs148110518 0.00037
NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=) rs147091980 0.00037
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049 0.00037
NM_000346.4(SOX9):c.1033C>T (p.Pro345Ser) rs768818630 0.00037
NM_001042492.3(NF1):c.731-6A>C rs369366499 0.00037
NM_001159699.2(FHL1):c.225C>A (p.Arg75=) rs143791173 0.00037
NM_003126.4(SPTA1):c.1351-4A>G rs200868774 0.00037
NM_020529.3(NFKBIA):c.78G>A (p.Leu26=) rs8192285 0.00037
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val) rs200512504 0.00037
NM_032415.7(CARD11):c.3145-14C>T rs201827805 0.00037
NM_032578.4(MYPN):c.1662A>C (p.Ala554=) rs71584488 0.00037
NM_144997.7(FLCN):c.619-20C>T rs202217257 0.00037
NM_000178.4(GSS):c.468C>T (p.Ala156=) rs79420079 0.00036
NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly) rs140952583 0.00036
NM_000435.3(NOTCH3):c.1194C>T (p.Gly398=) rs140368657 0.00036
NM_000492.4(CFTR):c.1766+73T>G rs397508299 0.00036
NM_000719.7(CACNA1C):c.5639G>A (p.Arg1880Gln) rs182208896 0.00036
NM_001065.4(TNFRSF1A):c.369C>T (p.Thr123=) rs104895260 0.00036
NM_001142864.4(PIEZO1):c.2590G>A (p.Val864Ile) rs565096713 0.00036
NM_001355436.2(SPTB):c.4001C>T (p.Ala1334Val) rs113139501 0.00036
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met) rs145611185 0.00036
NM_002474.3(MYH11):c.471C>T (p.Ile157=) rs140267000 0.00036
NM_003126.4(SPTA1):c.5778C>T (p.Asp1926=) rs146520285 0.00036
NM_004415.4(DSP):c.6319G>C (p.Val2107Leu) rs144263721 0.00036
NM_004444.5(EPHB4):c.1384G>A (p.Gly462Arg) rs146674844 0.00036
NM_005026.5(PIK3CD):c.2094C>T (p.Phe698=) rs370548772 0.00036
NM_005359.6(SMAD4):c.1448-33T>A rs368121123 0.00036
NM_014236.4(GNPAT):c.1095T>C (p.Phe365=) rs139272614 0.00036
NM_014629.4(ARHGEF10):c.2909C>T (p.Thr970Met) rs35925274 0.00036
NM_015046.7(SETX):c.5283A>G (p.Gln1761=) rs139063885 0.00036
NM_018719.5(CDCA7L):c.*1333C>T rs114694338 0.00036
NM_024334.3(TMEM43):c.777C>T (p.His259=) rs143958148 0.00036
NM_030973.4(MED25):c.1231-8C>T rs200594031 0.00036
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_000243.3(MEFV):c.1260+10C>T rs104895137 0.00035
NM_000435.3(NOTCH3):c.5200-4C>A rs375036447 0.00035
NM_001009944.3(PKD1):c.4810G>A (p.Val1604Met) rs191685707 0.00035
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=) rs150237416 0.00035
NM_001999.4(FBN2):c.5031C>T (p.Cys1677=) rs147452231 0.00035
NM_002246.3(KCNK3):c.366C>T (p.Leu122=) rs61736657 0.00035
NM_002972.4(SBF1):c.5022C>T (p.Asp1674=) rs570393243 0.00035
NM_017617.5(NOTCH1):c.6636C>T (p.Asp2212=) rs370606059 0.00035
NM_020822.3(KCNT1):c.522G>A (p.Met174Ile) rs147551342 0.00035
NM_181882.3(PRX):c.3708G>A (p.Ala1236=) rs202119177 0.00035
NM_000018.4(ACADVL):c.68G>A (p.Arg23Gln) rs34153370 0.00034
NM_000020.3(ACVRL1):c.666C>T (p.His222=) rs377194545 0.00034
NM_000037.4(ANK1):c.5395-1057C>T rs372282334 0.00034
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_000152.5(GAA):c.1754+11C>T rs371644603 0.00034
NM_000298.6(PKLR):c.111G>T (p.Gly37=) rs141341788 0.00034
NM_000335.5(SCN5A):c.5709G>A (p.Ser1903=) rs376826051 0.00034
NM_000431.4(MVK):c.371+13T>C rs201201471 0.00034
NM_000525.4(KCNJ11):c.27C>T (p.Pro9=) rs374134161 0.00034
NM_000540.3(RYR1):c.10938-9C>T rs201976186 0.00034
NM_000642.3(AGL):c.2088C>T (p.Ser696=) rs144491501 0.00034
NM_001145809.2(MYH14):c.2233-13C>A rs368249273 0.00034
NM_001355436.2(SPTB):c.1023G>T (p.Leu341=) rs144939390 0.00034
NM_001355436.2(SPTB):c.26A>C (p.Asn9Thr) rs138437526 0.00034
NM_003680.4(YARS1):c.1008G>A (p.Leu336=) rs140232925 0.00034
NM_004444.5(EPHB4):c.1017G>T (p.Leu339=) rs55867842 0.00034
NM_004984.4(KIF5A):c.471C>T (p.His157=) rs143178113 0.00034
NM_006446.5(SLCO1B1):c.1331+9A>G rs76647672 0.00034
NM_016239.4(MYO15A):c.7069G>A (p.Gly2357Ser) rs201540919 0.00034
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu) rs41272437 0.00034
NM_022489.4(INF2):c.37G>A (p.Ala13Thr) rs201383094 0.00034
NM_025132.4(WDR19):c.3249T>C (p.Asp1083=) rs371128500 0.00034
NM_032043.3(BRIP1):c.380-17T>A rs200050729 0.00034
NM_053025.4(MYLK):c.5238+22A>T rs139889311 0.00034
NM_147127.5(EVC2):c.1882G>A (p.Glu628Lys) rs186197620 0.00034
NM_153717.3(EVC):c.2712C>T (p.Ser904=) rs146829332 0.00034
NM_182943.3(PLOD2):c.2121+14T>C rs376009508 0.00034
NM_000037.4(ANK1):c.3668T>C (p.Val1223Ala) rs185516533 0.00033
NM_000302.4(PLOD1):c.1428G>A (p.Lys476=) rs139869965 0.00033
NM_001110556.2(FLNA):c.1044C>T (p.Pro348=) rs375821223 0.00033
NM_001142864.4(PIEZO1):c.2742C>A (p.Ala914=) rs771618589 0.00033
NM_001267550.2(TTN):c.57770G>A (p.Arg19257Gln) rs202076328 0.00033
NM_001270508.2(TNFAIP3):c.322A>G (p.Thr108Ala) rs376205580 0.00033
NM_001457.4(FLNB):c.3981G>A (p.Gln1327=) rs201441533 0.00033
NM_005751.5(AKAP9):c.9214-6T>C rs377532409 0.00033
NM_006302.3(MOGS):c.499A>C (p.Arg167=) rs371747622 0.00033
NM_023110.3(FGFR1):c.1431-5G>A rs201773631 0.00033
NM_030777.4(SLC2A10):c.1289-6C>T rs199967429 0.00033
NM_000038.6(APC):c.2232T>G (p.Ser744=) rs145751759 0.00032
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro) rs28897701 0.00032
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser) rs145355907 0.00032
NM_000260.4(MYO7A):c.4281G>A (p.Thr1427=) rs185607254 0.00032
NM_000346.4(SOX9):c.1503C>T (p.Pro501=) rs139015010 0.00032
NM_000558.5(HBA1):c.95+41G>T rs545248706 0.00032
NM_001110556.2(FLNA):c.1716C>T (p.Thr572=) rs201550267 0.00032
NM_001244008.2(KIF1A):c.1437C>T (p.Ala479=) rs375180690 0.00032
NM_001270508.2(TNFAIP3):c.295+8T>C rs370813134 0.00032
NM_001457.4(FLNB):c.4061+4G>A rs370061963 0.00032
NM_001999.4(FBN2):c.339G>A (p.Pro113=) rs144540627 0.00032
NM_002769.5(PRSS1):c.417C>T (p.Cys139=) rs141847266 0.00032
NM_003036.4(SKI):c.948G>A (p.Lys316=) rs368128582 0.00032
NM_007272.3(CTRC):c.110G>A (p.Arg37Gln) rs145868278 0.00032
NM_020778.5(ALPK3):c.2205A>G (p.Pro735=) rs116418403 0.00032
NM_000038.6(APC):c.4905G>A (p.Gly1635=) rs137988845 0.00031
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu) rs141010008 0.00031
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_000342.4(SLC4A1):c.486-18C>T rs201023917 0.00031
NM_000393.5(COL5A2):c.2230-16T>A rs375334470 0.00031
NM_000393.5(COL5A2):c.852G>A (p.Pro284=) rs150092345 0.00031
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr) rs374524755 0.00031
NM_001035.3(RYR2):c.3067-16_3067-15del rs727504453 0.00031
NM_001035.3(RYR2):c.774-14G>T rs370114411 0.00031
NM_001110556.2(FLNA):c.1691+7C>A rs199565118 0.00031
NM_001267550.2(TTN):c.63273T>C (p.Asp21091=) rs374168580 0.00031
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=) rs139953862 0.00031
NM_001365951.3(KIF1B):c.2604C>T (p.Asp868=) rs145846362 0.00031
NM_001844.5(COL2A1):c.3327+3G>A rs192229438 0.00031
NM_002474.3(MYH11):c.5450C>T (p.Ala1817Val) rs142654744 0.00031
NM_004239.4(TRIP11):c.5124C>T (p.Asn1708=) rs143872244 0.00031
NM_015141.4(GPD1L):c.813G>T (p.Arg271=) rs35464343 0.00031
NM_016204.4(GDF2):c.776A>G (p.Asn259Ser) rs140271276 0.00031
NM_017617.5(NOTCH1):c.186G>C (p.Pro62=) rs374320445 0.00031
NM_017636.4(TRPM4):c.1242T>C (p.Phe414=) rs200633475 0.00031
NM_024577.4(SH3TC2):c.1443C>T (p.Asp481=) rs146666910 0.00031
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp) rs145278250 0.00031
NM_000023.4(SGCA):c.189C>T (p.His63=) rs373770886 0.00030
NM_000093.5(COL5A1):c.3906+10C>T rs183881247 0.00030
NM_000558.3(HBA1):c.154G>A (p.Gly52Ser) rs33960522 0.00030
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=) rs200787122 0.00030
NM_001852.4(COL9A2):c.1824A>G (p.Glu608=) rs138949427 0.00030
NM_002691.4(POLD1):c.714G>A (p.Thr238=) rs149096523 0.00030
NM_015340.4(LARS2):c.1622+8G>A rs202009605 0.00030
NM_203486.3(DLL3):c.1386G>T (p.Ala462=) rs561167838 0.00030
NM_000018.4(ACADVL):c.1678+15C>T rs371402802 0.00029
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) rs201666889 0.00029
NM_000155.4(GALT):c.498T>C (p.Pro166=) rs193922249 0.00029
NM_000238.4(KCNH2):c.2454G>A (p.Ser818=) rs72549418 0.00029
NM_000302.4(PLOD1):c.1471-9C>G rs376476977 0.00029
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969 0.00029
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=) rs1800121 0.00029
NM_000518.5(HBB):c.324C>T (p.Gly108=) rs193922562 0.00029
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=) rs116392938 0.00029
NM_001009944.3(PKD1):c.4657G>A (p.Val1553Ile) rs200049385 0.00029
NM_001018005.2(TPM1):c.375-5T>C rs377061868 0.00029
NM_001110556.2(FLNA):c.5193G>A (p.Val1731=) rs201458268 0.00029
NM_001243133.2(NLRP3):c.1401C>T (p.Leu467=) rs141637807 0.00029
NM_001267550.2(TTN):c.49944G>A (p.Lys16648=) rs190021597 0.00029
NM_001267550.2(TTN):c.52008C>G (p.Val17336=) rs144507270 0.00029
NM_001384474.1(LOXHD1):c.5400-3C>T rs528236655 0.00029
NM_001395413.1(POR):c.1512C>T (p.Gly504=) rs370823127 0.00029
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly) rs199665922 0.00029
NM_002529.4(NTRK1):c.1068C>T (p.Asn356=) rs145823996 0.00029
NM_002755.4(MAP2K1):c.848C>T (p.Ala283Val) rs144080051 0.00029
NM_003659.4(AGPS):c.65C>G (p.Ala22Gly) rs767584572 0.00029
NM_004082.5(DCTN1):c.2805C>G (p.Ile935Met) rs145130328 0.00029
NM_004304.5(ALK):c.3102G>A (p.Ser1034=) rs138771319 0.00029
NM_006031.6(PCNT):c.4222C>T (p.Arg1408Trp) rs202161810 0.00029
NM_006031.6(PCNT):c.9967+18C>T rs369414311 0.00029
NM_007078.3(LDB3):c.1035C>T (p.Ile345=) rs121908336 0.00029
NM_020297.4(ABCC9):c.1557G>A (p.Glu519=) rs143346402 0.00029
NM_020297.4(ABCC9):c.2262T>C (p.Tyr754=) rs145561881 0.00029
NM_020433.5(JPH2):c.648G>A (p.Lys216=) rs796219248 0.00029
NM_021625.5(TRPV4):c.1464C>T (p.Thr488=) rs146841400 0.00029
NM_052854.4(CREB3L1):c.1259-13A>G rs371036131 0.00029
NM_203486.3(DLL3):c.747G>A (p.Thr249=) rs146906924 0.00029
NM_000038.6(APC):c.2593C>T (p.Pro865Ser) rs192620988 0.00028
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995 0.00028
NM_000435.3(NOTCH3):c.3523C>T (p.Arg1175Trp) rs200504060 0.00028
NM_001031834.1(RAB40AL):c.660C>G (p.Ser220Arg) rs148863690 0.00028
NM_001035.3(RYR2):c.10231-5C>T rs186326951 0.00028
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu) rs185962498 0.00028
NM_001267550.2(TTN):c.21993T>C (p.Pro7331=) rs373223049 0.00028
NM_001386125.1(OBSCN):c.10654G>A (p.Asp3552Asn) rs201332233 0.00028
NM_004082.5(DCTN1):c.558G>A (p.Pro186=) rs201078804 0.00028
NM_022489.4(INF2):c.609C>T (p.Ala203=) rs140017506 0.00028
NM_053025.4(MYLK):c.5114+8G>A rs202229368 0.00028
NC_000016.10:g.177596T>G rs930009344 0.00027
NM_000518.5(HBB):c.316-19T>A rs191535077 0.00027
NM_000548.5(TSC2):c.3744C>T (p.Ala1248=) rs45517307 0.00027
NM_001033855.3(DCLRE1C):c.973-1801T>A rs557886549 0.00027
NM_001105206.3(LAMA4):c.1158G>A (p.Glu386=) rs147894075 0.00027
NM_001370466.1(NOD2):c.760C>T (p.Leu254Phe) rs756943416 0.00027
NM_001376.5(DYNC1H1):c.12513+17C>T rs368189529 0.00027
NM_002907.4(RECQL):c.502-18A>G rs371398325 0.00027
NM_003978.5(PSTPIP1):c.882G>A (p.Pro294=) rs200796501 0.00027
NM_004360.5(CDH1):c.303C>T (p.Tyr101=) rs150789339 0.00027
NM_006892.4(DNMT3B):c.42C>T (p.Ala14=) rs730823 0.00027
NM_023110.3(FGFR1):c.359-4A>G rs185233212 0.00027
NM_000059.4(BRCA2):c.2412A>G (p.Glu804=) rs587780866 0.00026
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=) rs80359788 0.00026
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521 0.00026
NM_000393.5(COL5A2):c.322+8T>C rs372227642 0.00026
NM_000527.5(LDLR):c.1056C>T (p.Cys352=) rs13306515 0.00026
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp) rs45517328 0.00026
NM_001009944.3(PKD1):c.10397C>T (p.Ser3466Leu) rs147464577 0.00026
NM_001042492.3(NF1):c.7554C>G (p.Ala2518=) rs141897690 0.00026
NM_001065.4(TNFRSF1A):c.988G>A (p.Ala330Thr) rs200029309 0.00026
NM_001142864.4(PIEZO1):c.5988A>G (p.Ser1996=) rs370710857 0.00026
NM_001204.7(BMPR2):c.674G>A (p.Arg225His) rs148682262 0.00026
NM_001235.5(SERPINH1):c.1119C>T (p.Arg373=) rs375913094 0.00026
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=) rs184307461 0.00026
NM_001267550.2(TTN):c.25809G>A (p.Ser8603=) rs369099681 0.00026
NM_001267550.2(TTN):c.34845C>T (p.Pro11615=) rs368781863 0.00026
NM_001377.3(DYNC2H1):c.4053T>C (p.Tyr1351=) rs372246714 0.00026
NM_001999.4(FBN2):c.2249-19A>G rs193091226 0.00026
NM_002474.3(MYH11):c.914A>G (p.Asn305Ser) rs185661462 0.00026
NM_004006.3(DMD):c.1252A>T (p.Thr418Ser) rs201341211 0.00026
NM_004974.4(KCNA2):c.372G>A (p.Glu124=) rs200499541 0.00026
NM_005026.5(PIK3CD):c.3024G>A (p.Glu1008=) rs146664456 0.00026
NM_005529.7(HSPG2):c.3303-7C>T rs373330301 0.00026
NM_007078.3(LDB3):c.2092G>A (p.Ala698Thr) rs45577134 0.00026
NM_053025.4(MYLK):c.1609G>A (p.Val537Ile) rs199988497 0.00026
NM_053025.4(MYLK):c.429A>G (p.Arg143=) rs149940930 0.00026
NM_183050.4(BCKDHB):c.744G>A (p.Ala248=) rs147719822 0.00026
NM_000037.4(ANK1):c.447G>T (p.Ala149=) rs140550365 0.00025
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg) rs80358674 0.00025
NM_000059.4(BRCA2):c.9876G>A (p.Pro3292=) rs369047997 0.00025
NM_000169.3(GLA):c.-44C>T rs781906252 0.00025
NM_000431.4(MVK):c.876C>T (p.Leu292=) rs370301290 0.00025
NM_000558.5(HBA1):c.301-17C>A rs571422135 0.00025
NM_001142864.4(PIEZO1):c.5627G>A (p.Arg1876Lys) rs201967733 0.00025
NM_001375808.2(LPIN2):c.2610C>T (p.Ser870=) rs145412418 0.00025
NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg) rs373264436 0.00025
NM_003978.5(PSTPIP1):c.1151A>G (p.Asp384Gly) rs200771233 0.00025
NM_004655.4(AXIN2):c.1059+8C>T rs367595502 0.00025
NM_004985.5(KRAS):c.24A>G (p.Val8=) rs147406419 0.00025
NM_005032.7(PLS3):c.892-254T>C rs782587498 0.00025
NM_005609.4(PYGM):c.612C>T (p.Tyr204=) rs200467937 0.00025
NM_005902.4(SMAD3):c.207-10G>A rs201912204 0.00025
NM_018706.7(DHTKD1):c.33G>A (p.Arg11=) rs199768968 0.00025
NM_000089.4(COL1A2):c.892-13C>G rs200532328 0.00024
NM_000093.5(COL5A1):c.4393-19C>T rs186732287 0.00024
NM_000188.3(HK1):c.876-16G>T rs373066820 0.00024
NM_000193.4(SHH):c.756C>T (p.Phe252=) rs113275997 0.00024
NM_000399.5(EGR2):c.174C>T (p.Gly58=) rs143793213 0.00024
NM_000518.5(HBB):c.316-45G>C rs140033163 0.00024
NM_001005373.4(LRSAM1):c.2139C>T (p.Ile713=) rs373990000 0.00024
NM_001009944.3(PKD1):c.11156+36C>T rs369188265 0.00024
NM_001042475.3(CEP85L):c.1020+6713T>C rs116458064 0.00024
NM_001098512.3(PRKG1):c.13G>C (p.Glu5Gln) rs200844105 0.00024
NM_001145809.2(MYH14):c.3871G>T (p.Val1291Leu) rs202242879 0.00024
NM_001184.4(ATR):c.4267-12A>G rs374421247 0.00024
NM_001199397.3(NEK1):c.1617G>A (p.Gln539=) rs146569517 0.00024
NM_001267550.2(TTN):c.90624T>C (p.Asn30208=) rs370479059 0.00024
NM_001370466.1(NOD2):c.-8-2185C>T rs144993105 0.00024
NM_001370466.1(NOD2):c.989A>C (p.Asp330Ala) rs104895469 0.00024
NM_001377.3(DYNC2H1):c.2145A>G (p.Gln715=) rs373969189 0.00024
NM_001395413.1(POR):c.1806+8G>A rs72557952 0.00024
NM_001457.4(FLNB):c.3594G>A (p.Thr1198=) rs143566075 0.00024
NM_001854.4(COL11A1):c.898-15T>C rs200242905 0.00024
NM_001943.5(DSG2):c.2913T>G (p.Ala971=) rs200793530 0.00024
NM_002769.5(PRSS1):c.410C>T (p.Thr137Met) rs117497341 0.00024
NM_002972.4(SBF1):c.2697C>A (p.Gly899=) rs374888082 0.00024
NM_005422.4(TECTA):c.1461A>G (p.Gly487=) rs202127508 0.00024
NM_005529.7(HSPG2):c.9060G>A (p.Arg3020=) rs372508479 0.00024
NM_006446.5(SLCO1B1):c.210C>T (p.Asp70=) rs148697674 0.00024
NM_016204.4(GDF2):c.221G>A (p.Gly74Glu) rs151296940 0.00024
NM_022787.4(NMNAT1):c.764G>A (p.Ser255Asn) rs138626416 0.00024
NM_133459.4(CCBE1):c.966G>A (p.Ala322=) rs144169027 0.00024
NM_138477.4(CDAN1):c.2869-5C>T rs370304543 0.00024
NM_178335.3(CCDC50):c.1144G>A (p.Ala382Thr) rs143628723 0.00024
NM_206933.4(USH2A):c.4335T>C (p.Thr1445=) rs397518016 0.00024
NM_000037.4(ANK1):c.3298G>A (p.Val1100Ile) rs147741842 0.00023
NM_000175.5(GPI):c.1497C>T (p.Phe499=) rs138799755 0.00023
NM_000302.4(PLOD1):c.1471-8C>T rs201661871 0.00023
NM_000342.4(SLC4A1):c.798T>C (p.Phe266=) rs193011645 0.00023
NM_000431.4(MVK):c.1128C>T (p.Gly376=) rs147662789 0.00023
NM_000459.5(TEK):c.365-19G>A rs371486685 0.00023
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788 0.00023
NM_001130823.3(DNMT1):c.2693C>T (p.Thr898Ile) rs201213597 0.00023
NM_001130823.3(DNMT1):c.3807-14C>T rs371376513 0.00023
NM_001267550.2(TTN):c.98118T>C (p.Leu32706=) rs72648269 0.00023
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=) rs200014315 0.00023
NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=) rs138571942 0.00023
NM_002878.4(RAD51D):c.263+1605G>A rs147933658 0.00023
NM_004006.3(DMD):c.696C>G (p.Ile232Met) rs145668843 0.00023
NM_005529.7(HSPG2):c.4971C>T (p.Tyr1657=) rs138459752 0.00023
NM_006231.4(POLE):c.3379-12C>T rs187618435 0.00023
NM_144573.4(NEXN):c.1029G>A (p.Ala343=) rs374260457 0.00023
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_000138.5(FBN1):c.6872-956T>C rs766567890 0.00022
NM_000256.3(MYBPC3):c.3228C>T (p.Asp1076=) rs369999866 0.00022
NM_000435.3(NOTCH3):c.340+14A>G rs202136001 0.00022
NM_000518.5(HBB):c.246C>A (p.Leu82=) rs145669504 0.00022
NM_000518.5(HBB):c.294C>T (p.His98=) rs34515413 0.00022
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201 0.00022
NM_001009944.3(PKD1):c.3679G>T (p.Ala1227Ser) rs150710956 0.00022
NM_001109809.5(ZFP57):c.1118C>G (p.Ser373Cys) rs193232883 0.00022
NM_001114753.3(ENG):c.-120G>T rs565259710 0.00022
NM_001142864.4(PIEZO1):c.2907C>T (p.Ser969=) rs754595848 0.00022
NM_001148.6(ANK2):c.10531C>T (p.Leu3511=) rs148462839 0.00022
NM_001267550.2(TTN):c.107377+14C>T rs367908657 0.00022
NM_001999.4(FBN2):c.7013-7T>A rs191729449 0.00022
NM_003072.5(SMARCA4):c.3558G>A (p.Ala1186=) rs140322802 0.00022
NM_004006.3(DMD):c.3951G>A (p.Glu1317=) rs199643655 0.00022
NM_004360.5(CDH1):c.33G>C (p.Leu11=) rs730881654 0.00022
NM_006231.4(POLE):c.672C>T (p.Tyr224=) rs376923206 0.00022
NM_012452.3(TNFRSF13B):c.41G>A (p.Arg14His) rs200309474 0.00022
NM_053025.4(MYLK):c.5121C>T (p.Arg1707=) rs144436556 0.00022
NM_000020.3(ACVRL1):c.1084C>T (p.Leu362=) rs375679140 0.00021
NM_000059.4(BRCA2):c.682-32A>G rs376686897 0.00021
NM_000089.4(COL1A2):c.1329G>A (p.Glu443=) rs146206917 0.00021
NM_000089.4(COL1A2):c.981C>T (p.Arg327=) rs141762645 0.00021
NM_000093.5(COL5A1):c.1440C>T (p.Pro480=) rs150940930 0.00021
NM_000257.4(MYH7):c.5656-9C>T rs781212482 0.00021
NM_000289.6(PFKM):c.459C>T (p.Ser153=) rs145519821 0.00021
NM_000557.5(GDF5):c.979C>G (p.Leu327Val) rs181772082 0.00021
NM_001010892.3(RSPH4A):c.930C>T (p.Asn310=) rs180881714 0.00021
NM_001035.3(RYR2):c.10143-19T>C rs373127797 0.00021
NM_001040716.2(PC):c.1446C>T (p.Asp482=) rs145891535 0.00021
NM_001042492.3(NF1):c.5269-9A>G rs544515671 0.00021
NM_001242896.3(DEPDC5):c.2672G>C (p.Ser891Thr) rs185576553 0.00021
NM_001375808.2(LPIN2):c.2445T>C (p.Asp815=) rs140249737 0.00021
NM_001377.3(DYNC2H1):c.4719A>G (p.Gln1573=) rs201016942 0.00021
NM_001379610.1(SPINK1):c.195-21T>A rs377350168 0.00021
NM_001457.4(FLNB):c.3898+19G>A rs780062399 0.00021
NM_001457.4(FLNB):c.5407A>T (p.Met1803Leu) rs200677473 0.00021
NM_002047.4(GARS1):c.408A>G (p.Gln136=) rs200279483 0.00021
NM_002972.4(SBF1):c.2967+8G>A rs374708421 0.00021
NM_003467.3(CXCR4):c.294C>T (p.Ala98=) rs142289207 0.00021
NM_003640.5(ELP1):c.1878C>T (p.Asp626=) rs141596257 0.00021
NM_006005.3(WFS1):c.1309G>A (p.Gly437Ser) rs147974629 0.00021
NM_012073.5(CCT5):c.1425C>T (p.Thr475=) rs370529963 0.00021
NM_015512.5(DNAH1):c.7794C>T (p.Leu2598=) rs373044616 0.00021
NM_016204.4(GDF2):c.1290G>A (p.Ter430=) rs139568056 0.00021
NM_080680.3(COL11A2):c.1560C>A (p.Gly520=) rs370680294 0.00021
NM_138477.4(CDAN1):c.2016G>A (p.Pro672=) rs371799686 0.00021
NM_144687.4(NLRP12):c.629C>T (p.Pro210Leu) rs377594629 0.00021
NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly) rs111033396 0.00021
NM_201253.3(CRB1):c.1986A>G (p.Ser662=) rs115400822 0.00021
NM_000038.6(APC):c.3006C>T (p.Ala1002=) rs72541810 0.00020
NM_000257.4(MYH7):c.5283+19C>T rs45582836 0.00020
NM_000455.5(STK11):c.1296G>A (p.Gln432=) rs587781179 0.00020
NM_001002010.5(NT5C3A):c.139-9025G>T rs149839373 0.00020
NM_001142446.2(ANK1):c.127-39556C>T rs907195146 0.00020
NM_001148.6(ANK2):c.3963T>C (p.Ile1321=) rs72901936 0.00020
NM_001267550.2(TTN):c.14697C>T (p.Ser4899=) rs372740215 0.00020
NM_001365088.1(SLC12A6):c.966C>T (p.Gly322=) rs142496698 0.00020
NM_001376.5(DYNC1H1):c.13808G>T (p.Ser4603Ile) rs200731839 0.00020
NM_002769.5(PRSS1):c.621T>C (p.Asn207=) rs146995038 0.00020
NM_003001.5(SDHC):c.120G>A (p.Arg40=) rs36097930 0.00020
NM_003482.4(KMT2D):c.8382C>A (p.Gly2794=) rs368967997 0.00020
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) rs149322279 0.00020
NM_004082.5(DCTN1):c.837G>A (p.Ala279=) rs72466489 0.00020
NM_004171.4(SLC1A2):c.92G>A (p.Arg31Gln) rs199599866 0.00020
NM_006017.3(PROM1):c.456C>G (p.Pro152=) rs377209685 0.00020
NM_006939.4(SOS2):c.2712A>G (p.Glu904=) rs143332839 0.00020
NM_144997.7(FLCN):c.246C>T (p.Cys82=) rs150712346 0.00020
NM_000037.4(ANK1):c.4099G>A (p.Ala1367Thr) rs148620640 0.00019
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205 0.00019
NM_000059.4(BRCA2):c.6921A>G (p.Ser2307=) rs181183366 0.00019
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met) rs59004709 0.00019
NM_000088.4(COL1A1):c.1269C>T (p.Pro423=) rs149301001 0.00019
NM_000095.3(COMP):c.868-4C>T rs529806631 0.00019
NM_000132.4(F8):c.1064G>A (p.Arg355Gln) rs146581224 0.00019
NM_000132.4(F8):c.6276G>A (p.Val2092=) rs199522131 0.00019
NM_000138.5(FBN1):c.6705A>C (p.Gly2235=) rs2229326 0.00019
NM_000256.3(MYBPC3):c.3285G>A (p.Thr1095=) rs367927327 0.00019
NM_000260.4(MYO7A):c.3858G>A (p.Ala1286=) rs372623270 0.00019
NM_000314.8(PTEN):c.-313A>T rs1014763428 0.00019
NM_000520.6(HEXA):c.1421+14G>C rs201497629 0.00019
NM_000717.5(CA4):c.258C>T (p.Asn86=) rs185476073 0.00019
NM_001009944.3(PKD1):c.7430G>A (p.Arg2477His) rs556618384 0.00019
NM_001035.3(RYR2):c.1006-12C>T rs367998175 0.00019
NM_001042492.3(NF1):c.60+35G>A rs749185009 0.00019
NM_001128840.3(CACNA1D):c.3297G>A (p.Thr1099=) rs151094357 0.00019
NM_001130823.3(DNMT1):c.3117-9C>T rs199546819 0.00019
NM_001142864.4(PIEZO1):c.284-4G>A rs543289166 0.00019
NM_001267550.2(TTN):c.39127+10A>C rs397517554 0.00019
NM_001267550.2(TTN):c.97578C>T (p.Asp32526=) rs142907833 0.00019
NM_001355436.2(SPTB):c.6369T>G (p.Pro2123=) rs149033754 0.00019
NM_001358263.1(HK1):c.75+5186G>A rs372970369 0.00019
NM_001360016.2(G6PD):c.864+17A>T rs377041776 0.00019
NM_001365999.1(SZT2):c.8031G>A (p.Ala2677=) rs138303356 0.00019
NM_001386125.1(OBSCN):c.20021G>A (p.Ser6674Asn) rs376194851 0.00019
NM_002103.5(GYS1):c.207G>A (p.Thr69=) rs540438011 0.00019
NM_002180.3(IGHMBP2):c.1914G>A (p.Thr638=) rs139065967 0.00019
NM_002661.5(PLCG2):c.171C>T (p.Thr57=) rs374354863 0.00019
NM_002661.5(PLCG2):c.2211C>T (p.Pro737=) rs368933697 0.00019
NM_004304.5(ALK):c.487G>T (p.Val163Leu) rs55697431 0.00019
NM_005529.7(HSPG2):c.6630G>A (p.Pro2210=) rs149659526 0.00019
NM_006005.3(WFS1):c.1377G>A (p.Leu459=) rs143672793 0.00019
NM_006182.4(DDR2):c.2559C>T (p.Gly853=) rs142174119 0.00019
NM_006231.4(POLE):c.2781C>T (p.Asn927=) rs775486303 0.00019
NM_006231.4(POLE):c.6532-19G>T rs201114228 0.00019
NM_006790.3(MYOT):c.323A>C (p.Asn108Thr) rs142416150 0.00019
NM_007294.4(BRCA1):c.1789G>A (p.Glu597Lys) rs55650082 0.00019
NM_012418.4(FSCN2):c.718G>A (p.Ala240Thr) rs370156011 0.00019
NM_014920.5(CILK1):c.555G>A (p.Ala185=) rs138668959 0.00019
NM_017654.4(SAMD9):c.1059G>A (p.Thr353=) rs145911444 0.00019
NM_018112.3(TMEM38B):c.750G>A (p.Pro250=) rs199855840 0.00019
NM_032415.7(CARD11):c.2499C>T (p.Pro833=) rs150171618 0.00019
NM_144687.4(NLRP12):c.1182C>G (p.Asn394Lys) rs201241894 0.00019
NM_000038.6(APC):c.3374T>C (p.Val1125Ala) rs377278397 0.00018
NM_000088.4(COL1A1):c.1812T>C (p.Pro604=) rs151328660 0.00018
NM_000088.4(COL1A1):c.2236-9T>C rs375248255 0.00018
NM_000090.4(COL3A1):c.2805T>C (p.Pro935=) rs111567071 0.00018
NM_000093.5(COL5A1):c.2799+11G>A rs377322092 0.00018
NM_000117.3(EMD):c.272A>G (p.Asn91Ser) rs137977232 0.00018
NM_000188.3(HK1):c.2610-12C>T rs143981530 0.00018
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910 0.00018
NM_000302.4(PLOD1):c.1140C>T (p.Ser380=) rs200131516 0.00018
NM_000546.6(TP53):c.1014C>T (p.Phe338=) rs150293825 0.00018
NM_000558.5(HBA1):c.300+47C>A rs748369967 0.00018
NM_001009944.3(PKD1):c.10619G>C (p.Gly3540Ala) rs201409107 0.00018
NM_001065.4(TNFRSF1A):c.1206C>T (p.Ser402=) rs148334665 0.00018
NM_001110556.2(FLNA):c.2845G>A (p.Val949Ile) rs201656372 0.00018
NM_001110556.2(FLNA):c.3995A>G (p.Asp1332Gly) rs200615848 0.00018
NM_001114753.3(ENG):c.1134+9A>T rs200780733 0.00018
NM_001177316.2(SLC34A3):c.411G>A (p.Thr137=) rs148026048 0.00018
NM_001244008.2(KIF1A):c.3202+8G>A rs371620074 0.00018
NM_001365088.1(SLC12A6):c.3043-18T>C rs181683351 0.00018
NM_001999.4(FBN2):c.6253C>G (p.Pro2085Ala) rs34845843 0.00018
NM_002103.5(GYS1):c.1512C>T (p.Val504=) rs201028159 0.00018
NM_002230.4(JUP):c.1377G>T (p.Leu459=) rs147370522 0.00018
NM_002769.5(PRSS1):c.453C>T (p.Gly151=) rs147765409 0.00018
NM_003242.6(TGFBR2):c.984C>T (p.His328=) rs193922666 0.00018
NM_004360.5(CDH1):c.2412C>T (p.Pro804=) rs202075199 0.00018
NM_004517.4(ILK):c.707A>G (p.Asn236Ser) rs145571020 0.00018
NM_006031.6(PCNT):c.6819G>A (p.Gly2273=) rs200610141 0.00018
NM_018063.5(HELLS):c.913A>G (p.Thr305Ala) rs200482346 0.00018
NM_000059.4(BRCA2):c.10203G>A (p.Thr3401=) rs147854265 0.00017
NM_000059.4(BRCA2):c.67+17T>C rs767648965 0.00017
NM_000089.4(COL1A2):c.1583A>G (p.Asn528Ser) rs41317144 0.00017
NM_000132.4(F8):c.2887G>A (p.Asp963Asn) rs199660138 0.00017
NM_000138.5(FBN1):c.6342A>C (p.Gly2114=) rs374705586 0.00017
NM_000342.4(SLC4A1):c.277G>T (p.Ala93Ser) rs145054469 0.00017
NM_000435.3(NOTCH3):c.3328-8C>A rs200360207 0.00017
NM_000540.3(RYR1):c.5439G>A (p.Arg1813=) rs147424734 0.00017
NM_000719.7(CACNA1C):c.1419C>T (p.Ser473=) rs368065584 0.00017
NM_001114753.3(ENG):c.-188G>A rs961480381 0.00017
NM_001267550.2(TTN):c.65575+10T>C rs72646864 0.00017
NM_001375808.2(LPIN2):c.2328-13A>T rs199830303 0.00017
NM_001972.4(ELANE):c.366+12C>A rs377068029 0.00017
NM_002972.4(SBF1):c.5595G>A (p.Thr1865=) rs371139013 0.00017
NM_005529.7(HSPG2):c.11568C>T (p.Gly3856=) rs200221194 0.00017
NM_053025.4(MYLK):c.3981C>T (p.Val1327=) rs373556266 0.00017
NM_133379.5(TTN):c.15981G>A (p.Gln5327=) rs186841908 0.00017
NM_177438.3(DICER1):c.3261G>A (p.Ala1087=) rs369869162 0.00017
NM_181523.3(PIK3R1):c.1020-19T>C rs373504515 0.00017
NM_181882.3(PRX):c.3549C>T (p.Tyr1183=) rs367876251 0.00017
NM_000038.6(APC):c.6669A>G (p.Ser2223=) rs372680843 0.00016
NM_000268.4(NF2):c.1749G>A (p.Gln583=) rs201911915 0.00016
NM_000316.3(PTH1R):c.357G>A (p.Pro119=) rs143692596 0.00016
NM_000352.6(ABCC8):c.3000C>T (p.Cys1000=) rs192863214 0.00016
NM_000368.5(TSC1):c.1700C>T (p.Ala567Val) rs397514880 0.00016
NM_000368.5(TSC1):c.1936A>G (p.Met646Val) rs145741748 0.00016
NM_000520.6(HEXA):c.582G>A (p.Ala194=) rs112614306 0.00016
NM_000525.4(KCNJ11):c.1017G>T (p.Val339=) rs770408379 0.00016
NM_000548.5(TSC2):c.4493+17C>T rs45517345 0.00016
NM_001009944.3(PKD1):c.4809C>T (p.Ser1603=) rs146103326 0.00016
NM_001035.3(RYR2):c.8592A>G (p.Gly2864=) rs763801208 0.00016
NM_001142864.4(PIEZO1):c.4891C>T (p.Arg1631Cys) rs566969453 0.00016
NM_001142864.4(PIEZO1):c.6829C>A (p.Leu2277Met) rs563555492 0.00016
NM_001148.6(ANK2):c.270G>T (p.Val90=) rs376457094 0.00016
NM_001244008.2(KIF1A):c.3247G>A (p.Ala1083Thr) rs201793635 0.00016
NM_001267550.2(TTN):c.87771C>A (p.Gly29257=) rs72648230 0.00016
NM_001370259.2(MEN1):c.1080C>T (p.Ile360=) rs147331514 0.00016
NM_001370466.1(NOD2):c.1522C>T (p.Leu508=) rs145190613 0.00016
NM_001375808.2(LPIN2):c.1793+17C>T rs188429587 0.00016
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737 0.00016
NM_001378454.1(ALMS1):c.4149A>G (p.Gln1383=) rs370508895 0.00016
NM_001386125.1(OBSCN):c.2050T>C (p.Phe684Leu) rs371434948 0.00016
NM_001876.4(CPT1A):c.1770G>A (p.Glu590=) rs61731905 0.00016
NM_002230.4(JUP):c.2178C>T (p.Ile726=) rs141295561 0.00016
NM_002473.6(MYH9):c.3246G>A (p.Glu1082=) rs147961725 0.00016
NM_002473.6(MYH9):c.4096-16C>A rs144817592 0.00016
NM_002769.5(PRSS1):c.40+13C>T rs368872847 0.00016
NM_002890.3(RASA1):c.224G>C (p.Gly75Ala) rs200002693 0.00016
NM_003036.4(SKI):c.42C>T (p.His14=) rs543603037 0.00016
NM_003036.4(SKI):c.799C>T (p.Leu267=) rs140178396 0.00016
NM_003480.4(MFAP5):c.195T>A (p.Ile65=) rs146558268 0.00016
NM_004004.6(GJB2):c.186C>T (p.Asn62=) rs397516869 0.00016
NM_004655.4(AXIN2):c.1242G>A (p.Arg414=) rs200325634 0.00016
NM_004655.4(AXIN2):c.780T>C (p.Ser260=) rs147681058 0.00016
NM_005633.4(SOS1):c.109A>G (p.Thr37Ala) rs150565592 0.00016
NM_006031.6(PCNT):c.8401G>C (p.Val2801Leu) rs138868039 0.00016
NM_006231.4(POLE):c.6597C>T (p.Ile2199=) rs147611144 0.00016
NM_006767.4(LZTR1):c.2058C>T (p.Ala686=) rs201272562 0.00016
NM_007272.3(CTRC):c.27G>A (p.Ala9=) rs374821228 0.00016
NM_007294.4(BRCA1):c.4410A>T (p.Glu1470Asp) rs80357075 0.00016
NM_007294.4(BRCA1):c.5193+38A>G rs375647048 0.00016
NM_016938.5(EFEMP2):c.885C>T (p.Ser295=) rs142509316 0.00016
NM_017617.5(NOTCH1):c.3288G>C (p.Val1096=) rs374944458 0.00016
NM_017950.4(CCDC40):c.2227G>A (p.Glu743Lys) rs201166295 0.00016
NM_021625.5(TRPV4):c.1584C>T (p.Asn528=) rs142749412 0.00016
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp) rs183489969 0.00016
NM_030962.4(SBF2):c.2319G>A (p.Ala773=) rs201547070 0.00016
NM_053025.4(MYLK):c.4293G>A (p.Pro1431=) rs370153686 0.00016
NM_170707.4(LMNA):c.1656C>T (p.Asp552=) rs370219874 0.00016
NM_000132.4(F8):c.3399A>G (p.Gly1133=) rs200042130 0.00015
NM_000138.5(FBN1):c.1371C>G (p.Arg457=) rs25436 0.00015
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=) rs149697299 0.00015
NM_000243.3(MEFV):c.1518C>T (p.Ile506=) rs104895099 0.00015
NM_000384.3(APOB):c.5064C>T (p.Gly1688=) rs528083505 0.00015
NM_000492.4(CFTR):c.360G>A (p.Ala120=) rs1800077 0.00015
NM_000527.5(LDLR):c.165C>G (p.Gly55=) rs150644181 0.00015
NM_000548.5(TSC2):c.4809C>T (p.Asp1603=) rs147578602 0.00015
NM_001005242.3(PKP2):c.195C>T (p.Ala65=) rs397517014 0.00015
NM_001009944.3(PKD1):c.8100A>G (p.Ala2700=) rs372759889 0.00015
NM_001009944.3(PKD1):c.8750C>T (p.Ala2917Val) rs550768338 0.00015
NM_001084.5(PLOD3):c.503-9C>T rs368123704 0.00015
NM_001110556.2(FLNA):c.1812C>T (p.Asp604=) rs370735674 0.00015
NM_001134363.3(RBM20):c.3513G>A (p.Thr1171=) rs184312864 0.00015
NM_001364905.1(LRBA):c.3423C>T (p.Ala1141=) rs141442145 0.00015
NM_001370259.2(MEN1):c.1508G>A (p.Gly503Asp) rs375804228 0.00015
NM_001376013.1(EPB41):c.2229C>T (p.Ala743=) rs117306261 0.00015
NM_003978.5(PSTPIP1):c.355-16C>G rs767272289 0.00015
NM_006231.4(POLE):c.252C>T (p.Tyr84=) rs148838481 0.00015
NM_007357.3(COG2):c.1957G>A (p.Val653Ile) rs747920088 0.00015
NM_053025.4(MYLK):c.2023G>A (p.Gly675Arg) rs147008323 0.00015
NM_144997.7(FLCN):c.1332C>T (p.Ala444=) rs141283741 0.00015
NM_177438.3(DICER1):c.3792G>A (p.Thr1264=) rs778862635 0.00015
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656 0.00014
NM_000059.4(BRCA2):c.502C>A (p.Pro168Thr) rs80358726 0.00014
NM_000093.5(COL5A1):c.3906+19C>T rs571788196 0.00014
NM_000138.5(FBN1):c.6288C>T (p.Cys2096=) rs144822241 0.00014
NM_000138.5(FBN1):c.736+9G>A rs368241741 0.00014
NM_000142.5(FGFR3):c.2169-13G>A rs370060233 0.00014
NM_000142.5(FGFR3):c.930+10C>T rs534857289 0.00014
NM_000257.4(MYH7):c.3861G>C (p.Leu1287=) rs150292548 0.00014
NM_000321.3(RB1):c.1306C>A (p.Gln436Lys) rs4151534 0.00014
NM_000346.4(SOX9):c.930C>T (p.His310=) rs138423956 0.00014
NM_000492.4(CFTR):c.2559T>C (p.Ile853=) rs1800104 0.00014
NM_000546.6(TP53):c.869G>A (p.Arg290His) rs55819519 0.00014
NM_000637.5(GSR):c.1500G>A (p.Thr500=) rs368833049 0.00014
NM_000719.7(CACNA1C):c.1002C>T (p.Pro334=) rs112002520 0.00014
NM_001042492.3(NF1):c.2133C>T (p.Arg711=) rs148085908 0.00014
NM_001042492.3(NF1):c.3708+19C>T rs371590712 0.00014
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=) rs370868704 0.00014
NM_001114134.2(EPB42):c.1779+7A>G rs200770579 0.00014
NM_001130438.3(SPTAN1):c.7161-8G>A rs202180736 0.00014
NM_001148.6(ANK2):c.4372-7C>T rs370720661 0.00014
NM_001148.6(ANK2):c.5457G>A (p.Ala1819=) rs138113206 0.00014
NM_001199397.3(NEK1):c.594A>G (p.Thr198=) rs373252814 0.00014
NM_001250.6(CD40):c.750A>G (p.Pro250=) rs376780996 0.00014
NM_001267550.2(TTN):c.102102C>T (p.Phe34034=) rs377354934 0.00014
NM_001267550.2(TTN):c.103104A>G (p.Leu34368=) rs371535721 0.00014
NM_001267550.2(TTN):c.30888A>G (p.Lys10296=) rs587780978 0.00014
NM_001267550.2(TTN):c.74042A>G (p.Gln24681Arg) rs537071956 0.00014
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=) rs371656672 0.00014
NM_001378454.1(ALMS1):c.9633G>A (p.Lys3211=) rs373013570 0.00014
NM_001770.6(CD19):c.390T>A (p.Gly130=) rs573154781 0.00014
NM_001844.5(COL2A1):c.1635C>T (p.Asn545=) rs141321284 0.00014
NM_002474.3(MYH11):c.3121+19G>A rs369952802 0.00014
NM_002474.3(MYH11):c.5160C>T (p.Ser1720=) rs199564260 0.00014
NM_002972.4(SBF1):c.4521C>T (p.Pro1507=) rs534889802 0.00014
NM_003978.5(PSTPIP1):c.555C>T (p.Thr185=) rs370782742 0.00014
NM_004006.3(DMD):c.7151C>A (p.Ser2384Tyr) rs185706283 0.00014
NM_004333.6(BRAF):c.1141-12A>G rs375704079 0.00014
NM_015046.7(SETX):c.390C>T (p.Asn130=) rs138363625 0.00014
NM_016938.5(EFEMP2):c.1095G>A (p.Ala365=) rs369627072 0.00014
NM_017617.5(NOTCH1):c.6509G>A (p.Ser2170Asn) rs200254239 0.00014
NM_030943.4(AMN):c.1086G>A (p.Ala362=) rs959195796 0.00014
NM_032119.4(ADGRV1):c.2456G>A (p.Ser819Asn) rs182395524 0.00014
NM_053025.4(MYLK):c.2919G>A (p.Pro973=) rs149482336 0.00014
NM_000023.4(SGCA):c.408C>T (p.Ala136=) rs143551687 0.00013
NM_000038.6(APC):c.1548+17T>C rs367690523 0.00013
NM_000051.4(ATM):c.1773T>C (p.Asn591=) rs61734356 0.00013
NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val) rs80358589 0.00013
NM_000059.4(BRCA2):c.6960G>A (p.Leu2320=) rs373134168 0.00013
NM_000069.3(CACNA1S):c.4954C>T (p.Arg1652Cys) rs143933255 0.00013
NM_000089.4(COL1A2):c.2904C>T (p.Pro968=) rs142352627 0.00013
NM_000093.5(COL5A1):c.1476C>T (p.Val492=) rs141093527 0.00013
NM_000138.5(FBN1):c.8232G>A (p.Gln2744=) rs376119827 0.00013
NM_000256.3(MYBPC3):c.772+9G>T rs566339669 0.00013
NM_000297.4(PKD2):c.994T>G (p.Ser332Ala) rs200314088 0.00013
NM_000302.4(PLOD1):c.303C>T (p.Ser101=) rs147980436 0.00013
NM_000302.4(PLOD1):c.644-11C>T rs375303994 0.00013
NM_000393.5(COL5A2):c.2970G>C (p.Gly990=) rs933589600 0.00013
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649 0.00013
NM_000558.5(HBA1):c.198G>A (p.Ala66=) rs772025927 0.00013
NM_001002010.5(NT5C3A):c.354+6C>A rs572060959 0.00013
NM_001009944.3(PKD1):c.10051-29G>A rs763563760 0.00013
NM_001013703.4(EIF2AK4):c.60G>A (p.Pro20=) rs372761392 0.00013
NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser) rs375205247 0.00013
NM_001130823.3(DNMT1):c.2667C>T (p.Tyr889=) rs199832007 0.00013
NM_001142864.4(PIEZO1):c.4496-13C>T rs543403418 0.00013
NM_001267550.2(TTN):c.36405G>A (p.Val12135=) rs373815877 0.00013
NM_001267550.2(TTN):c.38875+20G>T rs773913022 0.00013
NM_001270508.2(TNFAIP3):c.619A>C (p.Ile207Leu) rs141807543 0.00013
NM_001355436.2(SPTB):c.5943C>T (p.Arg1981=) rs75000411 0.00013
NM_001355436.2(SPTB):c.6361A>G (p.Thr2121Ala) rs571733505 0.00013
NM_001386125.1(OBSCN):c.3185C>T (p.Ser1062Phe) rs200058427 0.00013
NM_001999.4(FBN2):c.4902C>T (p.Pro1634=) rs201071253 0.00013
NM_002471.4(MYH6):c.4526-9G>C rs201785356 0.00013
NM_003242.6(TGFBR2):c.94+16238C>T rs149757320 0.00013
NM_004281.4(BAG3):c.1029C>A (p.Arg343=) rs117972572 0.00013
NM_004304.5(ALK):c.3173-11C>T rs79339096 0.00013
NM_005188.4(CBL):c.-5A>G rs552214111 0.00013
NM_005529.7(HSPG2):c.10721-8C>T rs371225050 0.00013
NM_005529.7(HSPG2):c.7107T>C (p.His2369=) rs150126997 0.00013
NM_006031.6(PCNT):c.4554C>T (p.Arg1518=) rs751932532 0.00013
NM_006888.6(CALM1):c.324C>T (p.His108=) rs139706811 0.00013
NM_007294.4(BRCA1):c.1911T>C (p.Thr637=) rs62625305 0.00013
NM_014000.3(VCL):c.2827C>G (p.Pro943Ala) rs71579375 0.00013
NM_022367.4(SEMA4A):c.1694-13C>G rs144540956 0.00013
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=) rs202228407 0.00013
NM_133459.4(CCBE1):c.843A>T (p.Pro281=) rs191592668 0.00013
NM_144687.4(NLRP12):c.2895G>A (p.Leu965=) rs369220717 0.00013
NM_182925.5(FLT4):c.504G>A (p.Thr168=) rs145513301 0.00013
NM_000051.4(ATM):c.2839-18T>C rs553155942 0.00012
NM_000053.4(ATP7B):c.3402C>T (p.Pro1134=) rs145887771 0.00012
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479 0.00012
NM_000093.5(COL5A1):c.850G>A (p.Glu284Lys) rs75648697 0.00012
NM_000219.6(KCNE1):c.162C>T (p.Phe54=) rs17173508 0.00012
NM_000256.3(MYBPC3):c.2614G>A (p.Glu872Lys) rs190765116 0.00012
NM_000311.5(PRNP):c.306G>A (p.Pro102=) rs370426100 0.00012
NM_000316.3(PTH1R):c.1155C>T (p.Leu385=) rs201360775 0.00012
NM_000492.4(CFTR):c.4092G>A (p.Ala1364=) rs148878126 0.00012
NM_000517.6(HBA2):c.409C>A (p.Leu137Met) rs41364652 0.00012
NM_000535.7(PMS2):c.1320A>G (p.Pro440=) rs138697590 0.00012
NM_000548.5(TSC2):c.4493+16C>G rs45491597 0.00012
NM_001009944.3(PKD1):c.5770G>A (p.Gly1924Ser) rs199947459 0.00012
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=) rs140994965 0.00012
NM_001127222.2(CACNA1A):c.6526+11C>G rs767916527 0.00012
NM_001142864.4(PIEZO1):c.3969-14C>T rs750182116 0.00012
NM_001159773.2(CANT1):c.632-15A>C rs186671535 0.00012
NM_001244008.2(KIF1A):c.1221G>A (p.Leu407=) rs201242759 0.00012
NM_001375808.2(LPIN2):c.2535A>C (p.Gly845=) rs186864136 0.00012
NM_001376.5(DYNC1H1):c.12333G>A (p.Lys4111=) rs373520665 0.00012
NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr) rs201817670 0.00012
NM_001853.4(COL9A3):c.1932C>T (p.Pro644=) rs550889206 0.00012
NM_002335.4(LRP5):c.3888C>T (p.Pro1296=) rs752439831 0.00012
NM_002386.4(MC1R):c.717C>T (p.Gly239=) rs34490506 0.00012
NM_002769.5(PRSS1):c.390C>T (p.Thr130=) rs561097415 0.00012
NM_004004.6(GJB2):c.120A>C (p.Ala40=) rs561870637 0.00012
NM_004444.5(EPHB4):c.246C>T (p.Gly82=) rs373788065 0.00012
NM_006182.4(DDR2):c.1089C>T (p.Thr363=) rs142469044 0.00012
NM_006302.3(MOGS):c.249C>G (p.Ala83=) rs764778419 0.00012
NM_006939.4(SOS2):c.702G>A (p.Leu234=) rs200208472 0.00012
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) rs368570187 0.00012
NM_007272.3(CTRC):c.747G>A (p.Pro249=) rs150078209 0.00012
NM_007294.4(BRCA1):c.5304C>T (p.Cys1768=) rs138493864 0.00012
NM_007294.4(BRCA1):c.670+26C>G rs368134697 0.00012
NM_017617.5(NOTCH1):c.2805C>T (p.Pro935=) rs200332386 0.00012
NM_025215.6(PUS1):c.*8G>C rs775200434 0.00012
NM_203486.3(DLL3):c.870+12C>G rs180859782 0.00012
NM_000033.4(ABCD1):c.50G>A (p.Arg17His) rs782693577 0.00011
NM_000038.6(APC):c.3875C>T (p.Thr1292Met) rs371113837 0.00011
NM_000059.4(BRCA2):c.2680G>A (p.Val894Ile) rs28897715 0.00011
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro) rs56172926 0.00011
NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg) rs144614075 0.00011
NM_000138.5(FBN1):c.1821T>C (p.Asp607=) rs149133920 0.00011
NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg) rs767606368 0.00011
NM_000243.3(MEFV):c.1458C>T (p.Asp486=) rs147767925 0.00011
NM_000350.3(ABCA4):c.3329-11C>T rs367580653 0.00011
NM_000352.6(ABCC8):c.102G>A (p.Val34=) rs189746511 0.00011
NM_000371.4(TTR):c.69+30C>T rs377167174 0.00011
NM_000414.4(HSD17B4):c.1317A>G (p.Val439=) rs771922933 0.00011
NM_000492.4(CFTR):c.2620-97C>T rs146376436 0.00011
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300 0.00011
NM_001003800.2(BICD2):c.1620C>T (p.His540=) rs375331979 0.00011
NM_001009944.3(PKD1):c.359+34G>A rs781038728 0.00011
NM_001024630.4(RUNX2):c.219G>T (p.Ala73=) rs1022449962 0.00011
NM_001024630.4(RUNX2):c.581-9T>C rs374414428 0.00011
NM_001035.3(RYR2):c.2630A>C (p.His877Pro) rs561321743 0.00011
NM_001048174.2(MUTYH):c.1464G>A (p.Pro488=) rs143796254 0.00011
NM_001110556.2(FLNA):c.1828+3A>G rs368041880 0.00011
NM_001110556.2(FLNA):c.622+10C>T rs781889769 0.00011
NM_001122955.4(BSCL2):c.1234+7G>A rs200631909 0.00011
NM_001136193.2(FASTKD2):c.1080T>C (p.Leu360=) rs376045225 0.00011
NM_001199397.3(NEK1):c.3562C>T (p.Leu1188=) rs184270885 0.00011
NM_001199397.3(NEK1):c.912T>C (p.Pro304=) rs139433990 0.00011
NM_001235.5(SERPINH1):c.1059C>T (p.His353=) rs199548932 0.00011
NM_001267550.2(TTN):c.68211G>A (p.Ala22737=) rs536824562 0.00011
NM_001355436.2(SPTB):c.4105A>G (p.Lys1369Glu) rs760803657 0.00011
NM_001355436.2(SPTB):c.4511C>T (p.Ala1504Val) rs200876438 0.00011
NM_001369.3(DNAH5):c.3112G>A (p.Val1038Met) rs146828513 0.00011
NM_001370466.1(NOD2):c.2382-9T>A rs201759367 0.00011
NM_001370466.1(NOD2):c.45C>T (p.Val15=) rs766815592 0.00011
NM_001375808.2(LPIN2):c.2088-7T>G rs199713353 0.00011
NM_001376.5(DYNC1H1):c.657G>A (p.Gln219=) rs374440380 0.00011
NM_001377.3(DYNC2H1):c.9178A>C (p.Arg3060=) rs200515728 0.00011
NM_002180.3(IGHMBP2):c.1060+10C>T rs200170825 0.00011
NM_002471.4(MYH6):c.2929-3C>T rs376752266 0.00011
NM_002769.5(PRSS1):c.243G>C (p.Leu81=) rs142476093 0.00011
NM_002972.4(SBF1):c.1164C>T (p.Val388=) rs376600058 0.00011
NM_002972.4(SBF1):c.4047A>T (p.Arg1349=) rs894127251 0.00011
NM_003036.4(SKI):c.970-5C>T rs755318392 0.00011
NM_003482.4(KMT2D):c.1490C>T (p.Pro497Leu) rs371421459 0.00011
NM_003954.5(MAP3K14):c.1455C>T (p.Gly485=) rs549438131 0.00011
NM_004281.4(BAG3):c.415C>T (p.Arg139Trp) rs556465096 0.00011
NM_004329.3(BMPR1A):c.961C>T (p.Leu321=) rs377412651 0.00011
NM_004415.4(DSP):c.6753G>A (p.Lys2251=) rs750294829 0.00011
NM_004415.4(DSP):c.687C>T (p.Gly229=) rs112877191 0.00011
NM_004415.4(DSP):c.816G>A (p.Leu272=) rs376184294 0.00011
NM_004444.5(EPHB4):c.420G>A (p.Thr140=) rs760088877 0.00011
NM_004444.5(EPHB4):c.965-18C>T rs370366072 0.00011
NM_004612.4(TGFBR1):c.344-31G>A rs182276673 0.00011
NM_005529.7(HSPG2):c.6927C>T (p.Tyr2309=) rs552716935 0.00011
NM_006031.6(PCNT):c.4775T>G (p.Val1592Gly) rs141276542 0.00011
NM_006231.4(POLE):c.285+13C>A rs76960367 0.00011
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280 0.00011
NM_014845.6(FIG4):c.1863C>A (p.Thr621=) rs201744761 0.00011
NM_014920.5(CILK1):c.645G>T (p.Val215=) rs145373700 0.00011
NM_020975.6(RET):c.1522+35C>T rs377130948 0.00011
NM_020975.6(RET):c.337+11C>T rs754967305 0.00011
NM_021815.5(SLC5A7):c.619T>C (p.Leu207=) rs139476914 0.00011
NM_024675.4(PALB2):c.2027T>C (p.Ile676Thr) rs200875161 0.00011
NM_032043.3(BRIP1):c.249A>G (p.Gln83=) rs45528833 0.00011
NM_032638.5(GATA2):c.42G>T (p.Pro14=) rs372722885 0.00011
NM_147127.5(EVC2):c.3858C>T (p.His1286=) rs368103321 0.00011
NM_000018.4(ACADVL):c.62+9G>A rs369512281 0.00010
NM_000051.4(ATM):c.6382T>C (p.Leu2128=) rs753646931 0.00010
NM_000138.5(FBN1):c.2094G>T (p.Pro698=) rs144775475 0.00010
NM_000142.5(FGFR3):c.740-17G>A rs371424896 0.00010
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu) rs191109849 0.00010
NM_000182.5(HADHA):c.810G>A (p.Ala270=) rs376632479 0.00010
NM_000188.3(HK1):c.2634G>A (p.Thr878=) rs371194258 0.00010
NM_000264.5(PTCH1):c.2859C>T (p.Ala953=) rs142131559 0.00010
NM_000335.5(SCN5A):c.4299T>C (p.Tyr1433=) rs200556220 0.00010
NM_000355.4(TCN2):c.921A>C (p.Pro307=) rs138738105 0.00010
NM_000435.3(NOTCH3):c.4560G>T (p.Pro1520=) rs370010007 0.00010
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) rs111033423 0.00010
NM_000517.6(HBA2):c.375C>G (p.Ser125=) rs775058691 0.00010
NM_000517.6(HBA2):c.95+36C>T rs1455019991 0.00010
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343 0.00010
NM_000546.6(TP53):c.673-37C>T rs374907737 0.00010
NM_000552.5(VWF):c.1533+15G>A rs184217564 0.00010
NM_000642.3(AGL):c.1284-4A>G rs372612377 0.00010
NM_001009944.3(PKD1):c.7209+24C>T rs755674171 0.00010
NM_001035.3(RYR2):c.12114T>C (p.Asp4038=) rs368103385 0.00010
NM_001105206.3(LAMA4):c.1821G>A (p.Lys607=) rs374481199 0.00010
NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=) rs200363918 0.00010
NM_001110556.2(FLNA):c.6612C>T (p.Pro2204=) rs375499070 0.00010
NM_001142864.4(PIEZO1):c.6705C>T (p.Phe2235=) rs747798306 0.00010
NM_001142864.4(PIEZO1):c.6906C>T (p.Arg2302=) rs570953388 0.00010
NM_001142864.4(PIEZO1):c.7558A>G (p.Lys2520Glu) rs570744198 0.00010
NM_001148.6(ANK2):c.962G>A (p.Arg321Gln) rs150226540 0.00010
NM_001267550.2(TTN):c.1815T>C (p.Thr605=) rs757604614 0.00010
NM_001355436.2(SPTB):c.1773C>G (p.Thr591=) rs565667858 0.00010
NM_001360016.2(G6PD):c.519C>T (p.Phe173=) rs200111236 0.00010
NM_001360016.2(G6PD):c.957C>T (p.Thr319=) rs199702562 0.00010
NM_001370259.2(MEN1):c.1638G>A (p.Pro546=) rs368783097 0.00010
NM_001370466.1(NOD2):c.1608C>T (p.Tyr536=) rs111608429 0.00010
NM_001376.5(DYNC1H1):c.7317C>T (p.His2439=) rs200197781 0.00010
NM_001386125.1(OBSCN):c.12134C>T (p.Ser4045Leu) rs779979102 0.00010
NM_001395413.1(POR):c.1191G>A (p.Ser397=) rs372401863 0.00010
NM_001395413.1(POR):c.1509C>T (p.Asn503=) rs782397055 0.00010
NM_001498.4(GCLC):c.984A>T (p.Arg328=) rs181411098 0.00010
NM_002230.4(JUP):c.707+20G>A rs782523305 0.00010
NM_002474.3(MYH11):c.4809G>A (p.Thr1603=) rs140577744 0.00010
NM_003954.5(MAP3K14):c.2520C>T (p.Ser840=) rs571898629 0.00010
NM_004006.3(DMD):c.6414T>C (p.His2138=) rs753999355 0.00010
NM_004082.5(DCTN1):c.3212-10G>A rs201516838 0.00010
NM_005188.4(CBL):c.2542G>A (p.Ala848Thr) rs141710973 0.00010
NM_005529.7(HSPG2):c.355-18C>T rs746344135 0.00010
NM_005529.7(HSPG2):c.4758C>T (p.Ala1586=) rs374708543 0.00010
NM_005529.7(HSPG2):c.9909G>A (p.Thr3303=) rs201898411 0.00010
NM_005902.4(SMAD3):c.207-13C>T rs200548744 0.00010
NM_007294.4(BRCA1):c.4185+30G>A rs80358139 0.00010
NM_007294.4(BRCA1):c.4185+40T>G rs781561618 0.00010
NM_014920.5(CILK1):c.84G>A (p.Glu28=) rs56194620 0.00010
NM_015627.3(LDLRAP1):c.423C>T (p.Leu141=) rs140170877 0.00010
NM_017617.5(NOTCH1):c.390G>A (p.Pro130=) rs61751559 0.00010
NM_017617.5(NOTCH1):c.4096G>A (p.Gly1366Ser) rs778270588 0.00010
NM_017617.5(NOTCH1):c.6744C>T (p.Asn2248=) rs372771288 0.00010
NM_017617.5(NOTCH1):c.6788G>A (p.Arg2263Gln) rs200521815 0.00010
NM_021625.5(TRPV4):c.1398C>T (p.Phe466=) rs146929022 0.00010
NM_052859.4(RFT1):c.827-14T>C rs571722733 0.00010
NM_138477.4(CDAN1):c.2007+10C>T rs372645598 0.00010
NM_177438.3(DICER1):c.439-7A>T rs376762569 0.00010
NM_000037.4(ANK1):c.1926C>T (p.Ala642=) rs534680895 0.00009
NM_000037.4(ANK1):c.4136C>T (p.Pro1379Leu) rs748160803 0.00009
NM_000059.4(BRCA2):c.*14C>T rs373436334 0.00009
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser) rs80358572 0.00009
NM_000059.4(BRCA2):c.4314C>T (p.Val1438=) rs730881590 0.00009
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=) rs45520945 0.00009
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=) rs41293491 0.00009
NM_000059.4(BRCA2):c.4977C>T (p.Ser1659=) rs45484897 0.00009
NM_000088.4(COL1A1):c.588+15C>T rs371817394 0.00009
NM_000093.5(COL5A1):c.2134-11G>C rs369317619 0.00009
NM_000093.5(COL5A1):c.3691-9T>C rs187584029 0.00009
NM_000093.5(COL5A1):c.804C>T (p.Gly268=) rs147729713 0.00009
NM_000138.5(FBN1):c.5225-13T>G rs367786211 0.00009
NM_000138.5(FBN1):c.5296+12C>T rs566030960 0.00009
NM_000243.3(MEFV):c.198C>T (p.Ala66=) rs149380763 0.00009
NM_000249.4(MLH1):c.2103+14G>A rs769533221 0.00009
NM_000256.3(MYBPC3):c.851+18C>T rs377287239 0.00009
NM_000257.4(MYH7):c.2183C>T (p.Ala728Val) rs121913644 0.00009
NM_000302.4(PLOD1):c.1203-3C>T rs376288573 0.00009
NM_000335.5(SCN5A):c.3951G>A (p.Glu1317=) rs769473892 0.00009
NM_000337.6(SGCD):c.717G>A (p.Ala239=) rs145430692 0.00009
NM_000371.4(TTR):c.354C>T (p.Asn118=) rs11541797 0.00009
NM_000384.3(APOB):c.9804G>A (p.Ser3268=) rs144106662 0.00009
NM_000435.3(NOTCH3):c.4053C>T (p.Arg1351=) rs927758025 0.00009
NM_000492.4(CFTR):c.3140-33A>G rs373016758 0.00009
NM_000492.4(CFTR):c.3718-24G>A rs374013084 0.00009
NM_000518.4(HBB):c.-132G>T rs887821047 0.00009
NM_000546.6(TP53):c.6G>A (p.Glu2=) rs143458271 0.00009
NM_000548.5(TSC2):c.4302C>T (p.Gly1434=) rs137854000 0.00009
NM_000834.5(GRIN2B):c.4311C>T (p.Ala1437=) rs112265127 0.00009
NM_001009944.3(PKD1):c.10168-34G>A rs183682478 0.00009
NM_001009944.3(PKD1):c.10872G>A (p.Pro3624=) rs201417193 0.00009
NM_001042492.3(NF1):c.5757G>A (p.Glu1919=) rs141077224 0.00009
NM_001042492.3(NF1):c.7322-14C>T rs377244887 0.00009
NM_001042492.3(NF1):c.7739-33G>A rs199706010 0.00009
NM_001048174.2(MUTYH):c.612C>T (p.Thr204=) rs780747266 0.00009
NM_001079802.2(FKTN):c.1172+13T>C rs768792475 0.00009
NM_001110556.2(FLNA):c.4533T>C (p.Tyr1511=) rs191786597 0.00009
NM_001110556.2(FLNA):c.4908C>T (p.Ala1636=) rs367979917 0.00009
NM_001130823.3(DNMT1):c.4116-16T>A rs775700127 0.00009
NM_001142864.4(PIEZO1):c.4111C>T (p.Arg1371Cys) rs570638507 0.00009
NM_001151.4(SLC25A4):c.72C>G (p.Thr24=) rs910320605 0.00009
NM_001267550.2(TTN):c.13884C>T (p.Ser4628=) rs183328495 0.00009
NM_001267550.2(TTN):c.24227-16G>A rs377340591 0.00009
NM_001267550.2(TTN):c.57544+7dup rs750881309 0.00009
NM_001267550.2(TTN):c.7058-17C>T rs572098454 0.00009
NM_001267550.2(TTN):c.72802C>T (p.Arg24268Cys) rs370474301 0.00009
NM_001370259.2(MEN1):c.655-4del rs748005956 0.00009
NM_001395413.1(POR):c.357+14G>A rs372941705 0.00009
NM_001457.4(FLNB):c.1461C>T (p.Leu487=) rs374727625 0.00009
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=) rs147633551 0.00009
NM_002296.4(LBR):c.951A>G (p.Val317=) rs199748938 0.00009
NM_002474.3(MYH11):c.5277C>T (p.Val1759=) rs112564682 0.00009
NM_002529.4(NTRK1):c.575-16C>T rs143312136 0.00009
NM_003036.4(SKI):c.897C>T (p.Arg299=) rs773901705 0.00009
NM_003126.4(SPTA1):c.4875+13G>A rs776588829 0.00009
NM_003978.5(PSTPIP1):c.930-14C>T rs200876675 0.00009
NM_004333.6(BRAF):c.1993-11T>C rs750297886 0.00009
NM_004415.4(DSP):c.3981C>T (p.Ile1327=) rs397516934 0.00009
NM_005188.4(CBL):c.1566T>C (p.Ala522=) rs371065029 0.00009
NM_006031.6(PCNT):c.1155A>G (p.Ala385=) rs201944549 0.00009
NM_006231.4(POLE):c.3049C>T (p.Leu1017=) rs371831931 0.00009
NM_006445.4(PRPF8):c.4202+19A>G rs1279339161 0.00009
NM_007194.4(CHEK2):c.1095+19G>A rs200020484 0.00009
NM_007294.4(BRCA1):c.2352G>A (p.Ser784=) rs372017932 0.00009
NM_012452.3(TNFRSF13B):c.577T>C (p.Cys193Arg) rs764125338 0.00009
NM_016938.5(EFEMP2):c.882C>T (p.Cys294=) rs371712739 0.00009
NM_017617.5(NOTCH1):c.2352C>T (p.Ser784=) rs774701000 0.00009
NM_017617.5(NOTCH1):c.5019-6G>A rs978561896 0.00009
NM_018972.4(GDAP1):c.894T>C (p.Asn298=) rs756599272 0.00009
NM_018979.4(WNK1):c.5418A>G (p.Pro1806=) rs56245971 0.00009
NM_022489.4(INF2):c.1499C>T (p.Pro500Leu) rs561201601 0.00009
NM_022489.4(INF2):c.3654C>T (p.Thr1218=) rs557462297 0.00009
NM_023110.3(FGFR1):c.69G>A (p.Pro23=) rs369704492 0.00009
NM_024577.4(SH3TC2):c.549C>T (p.Ala183=) rs147013935 0.00009
NM_024675.4(PALB2):c.12T>C (p.Pro4=) rs567706422 0.00009
NM_053025.4(MYLK):c.2589G>A (p.Glu863=) rs536506601 0.00009
NM_053025.4(MYLK):c.3183C>T (p.Ser1061=) rs370194660 0.00009
NM_147127.5(EVC2):c.3519C>T (p.Ser1173=) rs749446584 0.00009
NM_152594.3(SPRED1):c.1192G>A (p.Asp398Asn) rs771480941 0.00009
NM_000018.4(ACADVL):c.1182+17C>A rs191276923 0.00008
NM_000038.6(APC):c.-19+509G>A rs745770540 0.00008
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478 0.00008
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg) rs80358730 0.00008
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097 0.00008
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00008
NM_000088.4(COL1A1):c.2424C>T (p.Pro808=) rs369699409 0.00008
NM_000093.5(COL5A1):c.5250G>A (p.Val1750=) rs200348547 0.00008
NM_000138.5(FBN1):c.5297-19A>G rs375665466 0.00008
NM_000142.5(FGFR3):c.739+16C>T rs757999433 0.00008
NM_000188.3(HK1):c.375+10T>C rs375270735 0.00008
NM_000276.4(OCRL):c.561-7T>A rs376622194 0.00008
NM_000289.6(PFKM):c.1501-15C>T rs756212415 0.00008
NM_000335.5(SCN5A):c.3207G>A (p.Thr1069=) rs371686822 0.00008
NM_000719.7(CACNA1C):c.5529T>C (p.His1843=) rs371831239 0.00008
NM_001003800.2(BICD2):c.2350A>G (p.Met784Val) rs149891938 0.00008
NM_001009944.3(PKD1):c.8016+7T>C rs746089639 0.00008
NM_001009944.3(PKD1):c.9093G>T (p.Leu3031=) rs1159235832 0.00008
NM_001035.3(RYR2):c.7608T>C (p.Ala2536=) rs367987360 0.00008
NM_001110556.2(FLNA):c.2571G>A (p.Thr857=) rs1208353421 0.00008
NM_001110556.2(FLNA):c.3877G>A (p.Val1293Ile) rs782265007 0.00008
NM_001199397.3(NEK1):c.1080+20G>A rs192292678 0.00008
NM_001199397.3(NEK1):c.1750-6T>C rs187716707 0.00008
NM_001267550.2(TTN):c.2760C>T (p.His920=) rs138788406 0.00008
NM_001360016.2(G6PD):c.1405C>T (p.Leu469=) rs369482861 0.00008
NM_001711.6(BGN):c.566-8T>C rs781871609 0.00008
NM_001854.4(COL11A1):c.456C>T (p.Pro152=) rs751512442 0.00008
NM_002180.3(IGHMBP2):c.2691C>T (p.Cys897=) rs146286133 0.00008
NM_002485.5(NBN):c.38-19A>T rs766849651 0.00008
NM_002890.3(RASA1):c.2488-20T>G rs369400038 0.00008
NM_003001.5(SDHC):c.405+13G>A rs369274171 0.00008
NM_003242.6(TGFBR2):c.577C>T (p.Arg193Trp) rs61762550 0.00008
NM_003640.5(ELP1):c.3346+7G>T rs144631706 0.00008
NM_003978.5(PSTPIP1):c.-124C>T rs760819203 0.00008
NM_005751.5(AKAP9):c.8468A>G (p.Gln2823Arg) rs376528503 0.00008
NM_006206.6(PDGFRA):c.738A>G (p.Gln246=) rs377699966 0.00008
NM_007294.4(BRCA1):c.4644G>A (p.Thr1548=) rs28897692 0.00008
NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val) rs80357465 0.00008
NM_007294.4(BRCA1):c.987T>C (p.Asn329=) rs774849810 0.00008
NM_015046.7(SETX):c.1221A>G (p.Thr407=) rs377618570 0.00008
NM_019844.4(SLCO1B3):c.459A>G (p.Thr153=) rs370334648 0.00008
NM_023110.3(FGFR1):c.1888C>T (p.Leu630=) rs746123129 0.00008
NM_024753.5(TTC21B):c.3552G>A (p.Ala1184=) rs148113339 0.00008
NM_030662.4(MAP2K2):c.258C>A (p.Val86=) rs148437150 0.00008
NM_032638.5(GATA2):c.229+15C>G rs767013148 0.00008
NM_033360.4(KRAS):c.5-11A>G rs369047577 0.00008
NM_053025.4(MYLK):c.3832-9C>T rs200022087 0.00008
NM_144687.4(NLRP12):c.3147G>A (p.Ala1049=) rs148506660 0.00008
NM_153717.3(EVC):c.2895-4T>C rs775049818 0.00008
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079 0.00008
NM_000018.4(ACADVL):c.63-31C>T rs372982295 0.00007
NM_000053.4(ATP7B):c.4021+34G>A rs373250873 0.00007
NM_000059.4(BRCA2):c.1167G>A (p.Pro389=) rs148607710 0.00007
NM_000059.4(BRCA2):c.3173A>G (p.Lys1058Arg) rs431825302 0.00007
NM_000071.3(CBS):c.1338G>A (p.Ala446=) rs373962057 0.00007
NM_000093.5(COL5A1):c.4748C>T (p.Thr1583Met) rs375076580 0.00007
NM_000249.4(MLH1):c.42A>C (p.Thr14=) rs369737664 0.00007
NM_000291.4(PGK1):c.846G>C (p.Leu282Phe) rs782668224 0.00007
NM_000455.5(STK11):c.357C>T (p.Asn119=) rs372511774 0.00007
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) rs142920240 0.00007
NM_000492.4(CFTR):c.4224G>A (p.Leu1408=) rs1800134 0.00007
NM_000517.6(HBA2):c.*98T>C rs1455865276 0.00007
NM_000518.5(HBB):c.389C>T (p.Ala130Val) rs111645889 0.00007
NM_000558.5(HBA1):c.207C>G (p.Asn69Lys) rs1060339 0.00007
NM_000891.3(KCNJ2):c.1080C>T (p.Asp360=) rs66476803 0.00007
NM_001009944.3(PKD1):c.11713-3C>T rs754015180 0.00007
NM_001009944.3(PKD1):c.8195G>A (p.Arg2732Gln) rs78185588 0.00007
NM_001009944.3(PKD1):c.8305C>T (p.Leu2769Phe) rs771382752 0.00007
NM_001013703.4(EIF2AK4):c.420C>T (p.Pro140=) rs11543185 0.00007
NM_001035.3(RYR2):c.10017C>T (p.His3339=) rs376439588 0.00007
NM_001035.3(RYR2):c.11766G>A (p.Glu3922=) rs774625105 0.00007
NM_001048174.2(MUTYH):c.1107G>T (p.Leu369=) rs201412035 0.00007
NM_001142864.4(PIEZO1):c.1504C>T (p.Arg502Cys) rs750545429 0.00007
NM_001142864.4(PIEZO1):c.988C>T (p.Arg330Cys) rs546108970 0.00007
NM_001243133.2(NLRP3):c.1665C>T (p.Asp555=) rs151097783 0.00007
NM_001375808.2(LPIN2):c.591-20C>G rs370548322 0.00007
NM_001457.4(FLNB):c.1873G>A (p.Glu625Lys) rs372998485 0.00007
NM_001457.4(FLNB):c.4449C>T (p.Tyr1483=) rs118012972 0.00007
NM_001605.3(AARS1):c.1689G>A (p.Val563=) rs536370318 0.00007
NM_001943.5(DSG2):c.3244C>G (p.Pro1082Ala) rs191300661 0.00007
NM_002755.4(MAP2K1):c.1068+18G>A rs369137482 0.00007
NM_003659.4(AGPS):c.1797+11A>G rs375071040 0.00007
NM_004006.3(DMD):c.2988A>G (p.Leu996=) rs148835707 0.00007
NM_005026.5(PIK3CD):c.231G>A (p.Ala77=) rs756139699 0.00007
NM_005548.3(KARS1):c.1368C>T (p.Cys456=) rs376044061 0.00007
NM_006493.4(CLN5):c.642A>T (p.Val214=) rs751496223 0.00007
NM_007272.3(CTRC):c.356+17C>G rs376786664 0.00007
NM_007294.4(BRCA1):c.593+3G>A rs80358013 0.00007
NM_030962.4(SBF2):c.2436C>T (p.Ala812=) rs374225152 0.00007
NM_031206.7(LAS1L):c.1341A>G (p.Ala447=) rs766767923 0.00007
NM_032119.4(ADGRV1):c.6684T>A (p.Ser2228=) rs373667458 0.00007
NM_033380.3(COL4A5):c.3403A>G (p.Ile1135Val) rs747614562 0.00007
NM_053025.4(MYLK):c.1651+7T>C rs758327487 0.00007
NM_053025.4(MYLK):c.382G>A (p.Ala128Thr) rs147840022 0.00007
NM_153676.4(USH1C):c.2004C>A (p.Pro668=) rs201586291 0.00007
NM_174934.4(SCN4B):c.378G>A (p.Thr126=) rs376627393 0.00007
NM_182961.4(SYNE1):c.20200-3T>C rs770710698 0.00007
NM_000037.4(ANK1):c.4538-6A>G rs776186305 0.00006
NM_000038.6(APC):c.789T>A (p.Gly263=) rs767053295 0.00006
NM_000051.4(ATM):c.7521C>T (p.Asp2507=) rs751234924 0.00006
NM_000059.4(BRCA2):c.2025A>G (p.Thr675=) rs147381487 0.00006
NM_000059.4(BRCA2):c.2320A>G (p.Thr774Ala) rs55968715 0.00006
NM_000059.4(BRCA2):c.2490C>T (p.Asn830=) rs56331088 0.00006
NM_000059.4(BRCA2):c.8662C>T (p.Arg2888Cys) rs80359123 0.00006
NM_000071.3(CBS):c.1266G>A (p.Pro422=) rs150146702 0.00006
NM_000071.3(CBS):c.612G>C (p.Val204=) rs539670390 0.00006
NM_000088.4(COL1A1):c.1983+16C>T rs536312322 0.00006
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr) rs148216434 0.00006
NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His) rs377278762 0.00006
NM_000090.4(COL3A1):c.1128C>T (p.His376=) rs771015742 0.00006
NM_000090.4(COL3A1):c.1150-13T>C rs201839712 0.00006
NM_000090.4(COL3A1):c.3061C>A (p.Leu1021Ile) rs139619440 0.00006
NM_000132.4(F8):c.5604A>T (p.Ser1868=) rs782028903 0.00006
NM_000138.5(FBN1):c.2793G>T (p.Gly931=) rs775785545 0.00006
NM_000138.5(FBN1):c.3082+13G>A rs757559866 0.00006
NM_000138.5(FBN1):c.988+20G>A rs375760654 0.00006
NM_000141.5(FGFR2):c.748+19G>A rs372837794 0.00006
NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu) rs144995231 0.00006
NM_000142.5(FGFR3):c.468C>T (p.Pro156=) rs778847955 0.00006
NM_000144.5(FXN):c.447G>A (p.Thr149=) rs151193551 0.00006
NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858 0.00006
NM_000152.5(GAA):c.1725C>T (p.Tyr575=) rs112517802 0.00006
NM_000162.5(GCK):c.600G>A (p.Val200=) rs773561406 0.00006
NM_000243.3(MEFV):c.1610+8G>A rs765410591 0.00006
NM_000243.3(MEFV):c.2049G>A (p.Ser683=) rs104895092 0.00006
NM_000243.3(MEFV):c.549G>A (p.Pro183=) rs587781035 0.00006
NM_000371.4(TTR):c.355G>A (p.Asp119Asn) rs76410435 0.00006
NM_000398.7(CYB5R3):c.903C>T (p.Phe301=) rs150607528 0.00006
NM_000431.4(MVK):c.527+10G>A rs368909134 0.00006
NM_000431.4(MVK):c.855C>T (p.Ala285=) rs550696805 0.00006
NM_000435.3(NOTCH3):c.120C>G (p.Ala40=) rs146904189 0.00006
NM_000435.3(NOTCH3):c.1840+8C>T rs372100017 0.00006
NM_000435.3(NOTCH3):c.2070A>G (p.Pro690=) rs370780913 0.00006
NM_000435.3(NOTCH3):c.3642C>T (p.Cys1214=) rs78985996 0.00006
NM_000435.3(NOTCH3):c.390C>T (p.His130=) rs139597834 0.00006
NM_000459.5(TEK):c.1313A>G (p.Asn438Ser) rs189543659 0.00006
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys) rs3738885 0.00006
NM_000492.4(CFTR):c.1519A>G (p.Ile507Val) rs1801178 0.00006
NM_000492.4(CFTR):c.2769C>T (p.Ala923=) rs1800108 0.00006
NM_000492.4(CFTR):c.3964-16T>C rs199672530 0.00006
NM_000492.4(CFTR):c.4296C>T (p.Asn1432=) rs761669740 0.00006
NM_000492.4(CFTR):c.663G>A (p.Ala221=) rs758147990 0.00006
NM_000527.5(LDLR):c.1428C>T (p.Pro476=) rs543392107 0.00006
NM_000546.6(TP53):c.618G>A (p.Leu206=) rs142813240 0.00006
NM_000546.6(TP53):c.920-17C>A rs911934766 0.00006
NM_000548.5(TSC2):c.1946+15G>A rs752601710 0.00006
NM_000548.5(TSC2):c.5117G>A (p.Arg1706His) rs45517392 0.00006
NM_000558.4(HBA1):c.-41C>G rs750737757 0.00006
NM_000559.3(HBG1):c.364G>A (p.Glu122Lys) rs33963857 0.00006
NM_001003800.2(BICD2):c.1749C>T (p.Pro583=) rs777813587 0.00006
NM_001009944.3(PKD1):c.5703C>T (p.Pro1901=) rs773475991 0.00006
NM_001009944.3(PKD1):c.7490-38C>T rs775658891 0.00006
NM_001009944.3(PKD1):c.8325G>A (p.Thr2775=) rs540387350 0.00006
NM_001009944.3(PKD1):c.8780C>T (p.Thr2927Met) rs544100161 0.00006
NM_001018008.2(TPM1):c.695G>A (p.Arg232His) rs730881128 0.00006
NM_001034850.3(RETREG1):c.339A>G (p.Pro113=) rs372182225 0.00006
NM_001048174.2(MUTYH):c.305-13C>G rs201207780 0.00006
NM_001062.4(TCN1):c.954C>T (p.Ser318=) rs138846758 0.00006
NM_001065.4(TNFRSF1A):c.1197G>T (p.Ala399=) rs140486890 0.00006
NM_001065.4(TNFRSF1A):c.672T>C (p.Leu224=) rs202150552 0.00006
NM_001110556.2(FLNA):c.2364G>A (p.Glu788=) rs1448428046 0.00006
NM_001114753.3(ENG):c.-98G>A rs923040659 0.00006
NM_001142864.4(PIEZO1):c.5214+15C>T rs766231050 0.00006
NM_001244008.2(KIF1A):c.654C>T (p.His218=) rs751380608 0.00006
NM_001256012.3(MYH10):c.3321G>A (p.Ala1107=) rs556463800 0.00006
NM_001267550.2(TTN):c.105090C>T (p.Asp35030=) rs72629789 0.00006
NM_001267550.2(TTN):c.27050-6G>A rs765624428 0.00006
NM_001291303.3(FAT4):c.11906-17A>C rs748245015 0.00006
NM_001297.5(CNGB1):c.2958C>T (p.Asn986=) rs543509332 0.00006
NM_001355436.2(SPTB):c.2804+15G>A rs750081021 0.00006
NM_001355436.2(SPTB):c.4574A>G (p.Asn1525Ser) rs373724473 0.00006
NM_001364905.1(LRBA):c.4416G>A (p.Leu1472=) rs746401908 0.00006
NM_001369.3(DNAH5):c.10330C>T (p.Leu3444=) rs201881960 0.00006
NM_001375808.2(LPIN2):c.608C>T (p.Ser203Phe) rs144555528 0.00006
NM_001375808.2(LPIN2):c.858G>A (p.Arg286=) rs548077620 0.00006
NM_001376.5(DYNC1H1):c.318C>T (p.Asp106=) rs752702437 0.00006
NM_001379610.1(SPINK1):c.110A>G (p.Asn37Ser) rs200142833 0.00006
NM_001386795.1(DTNA):c.1532+16C>T rs562514105 0.00006
NM_001395413.1(POR):c.420C>T (p.Tyr140=) rs368468521 0.00006
NM_001943.5(DSG2):c.1089G>A (p.Ser363=) rs372598337 0.00006
NM_001943.5(DSG2):c.2001+20A>G rs746383404 0.00006
NM_002769.5(PRSS1):c.591+8G>C rs371601976 0.00006
NM_002769.5(PRSS1):c.75T>C (p.Val25=) rs1249340827 0.00006
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805 0.00006
NM_003036.4(SKI):c.1923G>A (p.Leu641=) rs199666240 0.00006
NM_003036.4(SKI):c.360C>T (p.Arg120=) rs375024753 0.00006
NM_003072.5(SMARCA4):c.1287G>A (p.Ala429=) rs143600641 0.00006
NM_003072.5(SMARCA4):c.4302C>T (p.Asp1434=) rs146747026 0.00006
NM_003126.4(SPTA1):c.54G>A (p.Leu18=) rs199690643 0.00006
NM_003126.4(SPTA1):c.858A>G (p.Val286=) rs370463832 0.00006
NM_003480.4(MFAP5):c.94+18T>G rs766176657 0.00006
NM_003978.5(PSTPIP1):c.838+16C>T rs781423711 0.00006
NM_005529.7(HSPG2):c.1494C>T (p.Leu498=) rs187648591 0.00006
NM_005529.7(HSPG2):c.6912C>T (p.Ala2304=) rs755251798 0.00006
NM_005529.7(HSPG2):c.9717C>T (p.Pro3239=) rs375006314 0.00006
NM_005901.6(SMAD2):c.997+13T>C rs772205482 0.00006
NM_006005.3(WFS1):c.1479C>T (p.Val493=) rs750126396 0.00006
NM_006445.4(PRPF8):c.690C>T (p.Phe230=) rs200640834 0.00006
NM_007272.3(CTRC):c.678C>T (p.Asn226=) rs777608312 0.00006
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His) rs55746541 0.00006
NM_007294.4(BRCA1):c.2428A>T (p.Asn810Tyr) rs28897682 0.00006
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys) rs80356923 0.00006
NM_014236.4(GNPAT):c.1453C>T (p.Leu485=) rs370837823 0.00006
NM_014365.3(HSPB8):c.354C>T (p.Tyr118=) rs374476577 0.00006
NM_014920.5(CILK1):c.358+12G>A rs771886690 0.00006
NM_015046.7(SETX):c.1227A>G (p.Leu409=) rs769913556 0.00006
NM_015046.7(SETX):c.3210T>C (p.Leu1070=) rs145014082 0.00006
NM_016247.4(IMPG2):c.972C>T (p.Asp324=) rs762052051 0.00006
NM_017636.4(TRPM4):c.246G>T (p.Gly82=) rs756668921 0.00006
NM_017668.3(NDE1):c.948-3126G>A rs377410503 0.00006
NM_020631.6(PLEKHG5):c.2421G>A (p.Pro807=) rs767407997 0.00006
NM_021625.5(TRPV4):c.1092C>T (p.Ala364=) rs761716884 0.00006
NM_021625.5(TRPV4):c.144G>A (p.Ser48=) rs748274621 0.00006
NM_024334.3(TMEM43):c.802C>T (p.Arg268Trp) rs201138253 0.00006
NM_025114.4(CEP290):c.6477T>A (p.Thr2159=) rs556820066 0.00006
NM_025132.4(WDR19):c.3917+15C>T rs377597948 0.00006
NM_025132.4(WDR19):c.765G>C (p.Val255=) rs750446561 0.00006
NM_032609.3(COX4I2):c.408G>A (p.Thr136=) rs375116097 0.00006
NM_053025.4(MYLK):c.3636C>T (p.Pro1212=) rs780768361 0.00006
NM_080680.3(COL11A2):c.2271C>T (p.Gly757=) rs745568808 0.00006
NM_144997.7(FLCN):c.396+7C>T rs781155484 0.00006
NM_147127.5(EVC2):c.2079C>T (p.Val693=) rs201171209 0.00006
NM_147127.5(EVC2):c.887G>C (p.Gly296Ala) rs201083070 0.00006
NM_153676.4(USH1C):c.1020-19A>G rs760780173 0.00006
NM_153717.3(EVC):c.1692C>T (p.Asn564=) rs138242443 0.00006
NM_182925.5(FLT4):c.1581C>T (p.Asn527=) rs756153002 0.00006
NM_182925.5(FLT4):c.2648-8C>T rs752689922 0.00006
NM_182961.4(SYNE1):c.666G>A (p.Pro222=) rs141368652 0.00006
NM_000018.4(ACADVL):c.1606-40G>A rs754515750 0.00005
NM_000037.4(ANK1):c.1197G>A (p.Ala399=) rs756075877 0.00005
NM_000053.4(ATP7B):c.2604C>T (p.Pro868=) rs368902724 0.00005
NM_000059.4(BRCA2):c.5985C>T (p.Asn1995=) rs374620036 0.00005
NM_000059.4(BRCA2):c.7007+18T>A rs377471435 0.00005
NM_000059.4(BRCA2):c.8525G>A (p.Arg2842His) rs80359105 0.00005
NM_000059.4(BRCA2):c.9275A>G (p.Tyr3092Cys) rs80359195 0.00005
NM_000059.4(BRCA2):c.9738C>T (p.Ala3246=) rs80359811 0.00005
NM_000088.4(COL1A1):c.2028+18G>A rs745829877 0.00005
NM_000089.4(COL1A2):c.1521C>T (p.Asn507=) rs747938841 0.00005
NM_000093.5(COL5A1):c.2013C>T (p.Pro671=) rs372082908 0.00005
NM_000112.4(SLC26A2):c.1194A>T (p.Val398=) rs886038240 0.00005
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys) rs187553035 0.00005
NM_000179.3(MSH6):c.3399T>C (p.Thr1133=) rs61748084 0.00005
NM_000184.2(HBG2):c.122G>A (p.Arg41Lys) rs281864892 0.00005
NM_000219.6(KCNE1):c.139G>A (p.Val47Ile) rs199473353 0.00005
NM_000243.3(MEFV):c.-13C>G rs200991336 0.00005
NM_000257.4(MYH7):c.1323G>A (p.Thr441=) rs397516096 0.00005
NM_000289.6(PFKM):c.1212T>C (p.Ala404=) rs1203272613 0.00005
NM_000307.5(POU3F4):c.24C>T (p.Pro8=) rs756362293 0.00005
NM_000342.4(SLC4A1):c.2193C>T (p.Ser731=) rs754017629 0.00005
NM_000368.5(TSC1):c.1921C>T (p.Pro641Ser) rs374222196 0.00005
NM_000371.4(TTR):c.336+18C>T rs370628373 0.00005
NM_000384.3(APOB):c.3294C>T (p.Asn1098=) rs978418946 0.00005
NM_000463.3(UGT1A1):c.1458C>T (p.Tyr486=) rs142077822 0.00005
NM_000492.4(CFTR):c.2475C>T (p.Asn825=) rs746961486 0.00005
NM_000518.4(HBB):c.220G>A (p.Asp74Asn) rs33945705 0.00005
NM_000527.5(LDLR):c.2251C>T (p.Arg751Trp) rs756864388 0.00005
NM_000539.3(RHO):c.1020G>A (p.Thr340=) rs559747229 0.00005
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp) rs45517333 0.00005
NM_000552.5(VWF):c.55+15G>A rs201377447 0.00005
NM_000719.7(CACNA1C):c.5931C>T (p.Val1977=) rs757236915 0.00005
NM_001009944.3(PKD1):c.1515C>T (p.Ala505=) rs748123570 0.00005
NM_001009944.3(PKD1):c.7488G>A (p.Thr2496=) rs776604789 0.00005
NM_001035.3(RYR2):c.594C>T (p.Asn198=) rs727504676 0.00005
NM_001039141.3(TRIOBP):c.7044T>C (p.Leu2348=) rs373077785 0.00005
NM_001040716.2(PC):c.2469C>T (p.Asp823=) rs145654496 0.00005
NM_001042492.3(NF1):c.6528T>C (p.Ile2176=) rs147522129 0.00005
NM_001105206.3(LAMA4):c.1962G>A (p.Ala654=) rs140246538 0.00005
NM_001114753.3(ENG):c.689+17G>A rs773103359 0.00005
NM_001127671.2(LIFR):c.147T>G (p.Ala49=) rs879807300 0.00005
NM_001130823.3(DNMT1):c.2268T>C (p.Thr756=) rs374841430 0.00005
NM_001134363.3(RBM20):c.3523A>G (p.Thr1175Ala) rs768548680 0.00005
NM_001244008.2(KIF1A):c.609-8C>T rs775915390 0.00005
NM_001267550.2(TTN):c.100257T>C (p.Asp33419=) rs727505046 0.00005
NM_001267550.2(TTN):c.16302C>T (p.Ser5434=) rs370615208 0.00005
NM_001267550.2(TTN):c.4998A>T (p.Thr1666=) rs139054950 0.00005
NM_001303256.3(MORC2):c.905-11C>T rs375444407 0.00005
NM_001355436.2(SPTB):c.2435A>C (p.Glu812Ala) rs144888014 0.00005
NM_001360.3(DHCR7):c.964-5C>T rs767108226 0.00005
NM_001364905.1(LRBA):c.1219T>C (p.Leu407=) rs190586278 0.00005
NM_001370259.2(MEN1):c.1032G>A (p.Thr344=) rs760183888 0.00005
NM_001375808.2(LPIN2):c.1939-14T>C rs370284164 0.00005
NM_002296.4(LBR):c.1324T>C (p.Leu442=) rs61749338 0.00005
NM_002471.4(MYH6):c.4650+10G>A rs760975924 0.00005
NM_002834.5(PTPN11):c.990A>C (p.Thr330=) rs369739920 0.00005
NM_002890.3(RASA1):c.1722A>G (p.Ala574=) rs200157130 0.00005
NM_002972.4(SBF1):c.3399C>T (p.Leu1133=) rs367869582 0.00005
NM_003036.4(SKI):c.994A>G (p.Ile332Val) rs374264201 0.00005
NM_003072.5(SMARCA4):c.726C>T (p.Pro242=) rs578260605 0.00005
NM_003659.4(AGPS):c.1539C>T (p.Tyr513=) rs980211710 0.00005
NM_003978.5(PSTPIP1):c.-123G>A rs771172891 0.00005
NM_004006.3(DMD):c.145C>T (p.Arg49Cys) rs147548697 0.00005
NM_004006.3(DMD):c.8322G>A (p.Leu2774=) rs72466575 0.00005
NM_005334.3(HCFC1):c.3990C>T (p.Thr1330=) rs1329487679 0.00005
NM_005359.6(SMAD4):c.1647A>G (p.Gln549=) rs113545983 0.00005
NM_005529.7(HSPG2):c.5075G>T (p.Gly1692Val) rs777795072 0.00005
NM_005751.5(AKAP9):c.6330+3A>G rs771419309 0.00005
NM_006031.6(PCNT):c.7006G>A (p.Ala2336Thr) rs144612972 0.00005
NM_006206.6(PDGFRA):c.3003G>A (p.Lys1001=) rs373642812 0.00005
NM_006269.2(RP1):c.6210C>T (p.Asn2070=) rs767325122 0.00005
NM_006445.4(PRPF8):c.6504C>T (p.Tyr2168=) rs753995574 0.00005
NM_006579.3(EBP):c.445A>G (p.Ile149Val) rs782032266 0.00005
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102 0.00005
NM_007294.4(BRCA1):c.4653T>C (p.Ser1551=) rs587780863 0.00005
NM_014845.6(FIG4):c.1341T>C (p.Phe447=) rs199651811 0.00005
NM_016938.5(EFEMP2):c.474C>T (p.Ile158=) rs779614307 0.00005
NM_024675.4(PALB2):c.3249G>C (p.Glu1083Asp) rs147045425 0.00005
NM_032415.7(CARD11):c.3303C>T (p.Arg1101=) rs764369378 0.00005
NM_032578.4(MYPN):c.2925+20A>C rs200111945 0.00005
NM_138477.4(CDAN1):c.114G>A (p.Ala38=) rs560030704 0.00005
NM_144997.7(FLCN):c.396+19G>A rs767495491 0.00005
NM_144997.7(FLCN):c.779+10G>A rs376357696 0.00005
NM_147127.5(EVC2):c.2556G>A (p.Arg852=) rs762781823 0.00005
NM_147127.5(EVC2):c.707-20_707-19del rs777343377 0.00005
NM_177438.3(DICER1):c.5096-13C>T rs199506334 0.00005
NM_194248.3(OTOF):c.5610C>T (p.Thr1870=) rs141119917 0.00005
NM_206933.4(USH2A):c.11390-10C>T rs750110818 0.00005
NM_000033.4(ABCD1):c.1865+11C>T rs781956636 0.00004
NM_000037.4(ANK1):c.5600C>T (p.Ala1867Val) rs767580738 0.00004
NM_000051.4(ATM):c.-18G>A rs374303671 0.00004
NM_000051.4(ATM):c.5496+11T>C rs751491395 0.00004
NM_000051.4(ATM):c.7779G>A (p.Gln2593=) rs770321620 0.00004
NM_000059.4(BRCA2):c.1762A>G (p.Asn588Asp) rs398122731 0.00004
NM_000059.4(BRCA2):c.267G>A (p.Pro89=) rs587780648 0.00004
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg) rs80358545 0.00004
NM_000059.4(BRCA2):c.5626G>A (p.Glu1876Lys) rs397507793 0.00004
NM_000059.4(BRCA2):c.6143A>T (p.Asn2048Ile) rs80358853 0.00004
NM_000059.4(BRCA2):c.6290C>T (p.Thr2097Met) rs80358866 0.00004
NM_000059.4(BRCA2):c.67+19T>C rs587780865 0.00004
NM_000059.4(BRCA2):c.67+40G>A rs371493518 0.00004
NM_000059.4(BRCA2):c.7505G>A (p.Arg2502His) rs56070345 0.00004
NM_000059.4(BRCA2):c.8723T>G (p.Val2908Gly) rs28897753 0.00004
NM_000059.4(BRCA2):c.9586A>G (p.Lys3196Glu) rs80359228 0.00004
NM_000071.3(CBS):c.501C>T (p.Ile167=) rs754246295 0.00004
NM_000088.4(COL1A1):c.1695C>T (p.Pro565=) rs761635519 0.00004
NM_000088.4(COL1A1):c.1930-5T>C rs762377921 0.00004
NM_000089.4(COL1A2):c.2481A>C (p.Pro827=) rs142310831 0.00004
NM_000089.4(COL1A2):c.3268-9C>T rs763122023 0.00004
NM_000089.4(COL1A2):c.48C>T (p.Thr16=) rs780687409 0.00004
NM_000093.5(COL5A1):c.219C>T (p.Val73=) rs774691915 0.00004
NM_000093.5(COL5A1):c.4536C>T (p.Ser1512=) rs367711669 0.00004
NM_000132.4(F8):c.3376A>T (p.Arg1126Trp) rs199630813 0.00004
NM_000138.5(FBN1):c.1602T>C (p.Cys534=) rs377386372 0.00004
NM_000138.5(FBN1):c.2419+13T>A rs372885314 0.00004
NM_000138.5(FBN1):c.3838+20T>C rs772287702 0.00004
NM_000138.5(FBN1):c.4336+7G>T rs760603409 0.00004
NM_000138.5(FBN1):c.7230C>T (p.His2410=) rs193922231 0.00004
NM_000138.5(FBN1):c.863-36T>C rs181838746 0.00004
NM_000179.3(MSH6):c.3729A>G (p.Thr1243=) rs773807182 0.00004
NM_000238.4(KCNH2):c.1471G>A (p.Val491Ile) rs374376640 0.00004
NM_000243.3(MEFV):c.1587+7G>A rs375555497 0.00004
NM_000243.3(MEFV):c.948C>T (p.His316=) rs150252937 0.00004
NM_000251.2(MSH2):c.-102T>C rs17217709 0.00004
NM_000257.4(MYH7):c.12G>A (p.Ser4=) rs45561941 0.00004
NM_000258.3(MYL3):c.246G>A (p.Ala82=) rs368364468 0.00004
NM_000271.5(NPC1):c.181-4A>C rs374571310 0.00004
NM_000283.4(PDE6B):c.2129+8C>T rs764138476 0.00004
NM_000289.6(PFKM):c.1063-18G>A rs531023136 0.00004
NM_000302.4(PLOD1):c.243G>A (p.Leu81=) rs371574381 0.00004
NM_000335.5(SCN5A):c.3147C>T (p.Ile1049=) rs867787484 0.00004
NM_000335.5(SCN5A):c.5172G>A (p.Pro1724=) rs372629753 0.00004
NM_000337.6(SGCD):c.15G>C (p.Glu5Asp) rs549319429 0.00004
NM_000346.4(SOX9):c.*1217G>A rs1016409707 0.00004
NM_000365.6(TPI1):c.690C>T (p.Phe230=) rs782267337 0.00004
NM_000368.5(TSC1):c.1974C>T (p.Asp658=) rs118203608 0.00004
NM_000368.5(TSC1):c.1976C>T (p.Ala659Val) rs118203609 0.00004
NM_000384.3(APOB):c.2047G>T (p.Ala683Ser) rs761947252 0.00004
NM_000384.3(APOB):c.3675C>T (p.His1225=) rs765467750 0.00004
NM_000384.3(APOB):c.4251G>A (p.Thr1417=) rs72653082 0.00004
NM_000393.5(COL5A2):c.3614T>C (p.Val1205Ala) rs148110552 0.00004
NM_000393.5(COL5A2):c.851C>T (p.Pro284Leu) rs540573303 0.00004
NM_000435.3(NOTCH3):c.4875A>C (p.Pro1625=) rs538466132 0.00004
NM_000535.7(PMS2):c.1197G>A (p.Lys399=) rs757730609 0.00004
NM_000546.6(TP53):c.993+312C>T rs756952434 0.00004
NM_000548.5(TSC2):c.5161-20C>T rs200315428 0.00004
NM_000552.5(VWF):c.8175C>T (p.Asn2725=) rs759147832 0.00004
NM_000559.2(HBG1):c.16G>A (p.Glu6Lys) rs34427034 0.00004
NM_000559.3(HBG1):c.377A>C (p.Glu126Ala) rs770330940 0.00004
NM_000719.7(CACNA1C):c.1065G>A (p.Thr355=) rs757055492 0.00004
NM_000719.7(CACNA1C):c.1104G>A (p.Val368=) rs377274770 0.00004
NM_001005242.3(PKP2):c.2121G>A (p.Ser707=) rs139098675 0.00004
NM_001005361.3(DNM2):c.1837G>A (p.Val613Met) rs748286191 0.00004
NM_001005361.3(DNM2):c.1893+17C>T rs45585238 0.00004
NM_001005373.4(LRSAM1):c.619+14G>A rs770398029 0.00004
NM_001009944.3(PKD1):c.10051-6C>T rs749281950 0.00004
NM_001009944.3(PKD1):c.7210-20A>T rs745502224 0.00004
NM_001033855.3(DCLRE1C):c.1800T>C (p.Asp600=) rs199619187 0.00004
NM_001040108.2(MLH3):c.3675C>T (p.His1225=) rs147335651 0.00004
NM_001042492.3(NF1):c.6428-3C>T rs374014162 0.00004
NM_001110556.2(FLNA):c.1429+9G>A rs782226711 0.00004
NM_001110556.2(FLNA):c.1665G>A (p.Thr555=) rs782376419 0.00004
NM_001110556.2(FLNA):c.1768G>A (p.Val590Ile) rs782776511 0.00004
NM_001110556.2(FLNA):c.3036G>A (p.Ser1012=) rs373908435 0.00004
NM_001110556.2(FLNA):c.5151G>A (p.Pro1717=) rs782646183 0.00004
NM_001110556.2(FLNA):c.63C>T (p.Val21=) rs782306951 0.00004
NM_001114753.3(ENG):c.1019C>T (p.Pro340Leu) rs772135786 0.00004
NM_001127217.3(SMAD9):c.1047C>T (p.Cys349=) rs141357701 0.00004
NM_001127217.3(SMAD9):c.781+18A>G rs900040342 0.00004
NM_001134363.3(RBM20):c.99G>C (p.Pro33=) rs921066961 0.00004
NM_001142864.4(PIEZO1):c.1558-19del rs970891081 0.00004
NM_001142864.4(PIEZO1):c.4775+9G>A rs758431569 0.00004
NM_001142864.4(PIEZO1):c.4884C>T (p.Pro1628=) rs975165548 0.00004
NM_001142864.4(PIEZO1):c.4958G>A (p.Arg1653His) rs992473797 0.00004
NM_001142864.4(PIEZO1):c.6249C>T (p.Cys2083=) rs372557703 0.00004
NM_001142864.4(PIEZO1):c.7169G>A (p.Arg2390Gln) rs377011269 0.00004
NM_001148.6(ANK2):c.10809T>A (p.Ile3603=) rs924379504 0.00004
NM_001243133.2(NLRP3):c.111C>T (p.Ile37=) rs145314485 0.00004
NM_001243133.2(NLRP3):c.2835-7T>G rs747303698 0.00004
NM_001244008.2(KIF1A):c.4744-4G>A rs771679601 0.00004
NM_001256012.3(MYH10):c.4914T>C (p.Asp1638=) rs778990648 0.00004
NM_001267550.2(TTN):c.6387C>T (p.Pro2129=) rs140253822 0.00004
NM_001267550.2(TTN):c.91749C>T (p.Ser30583=) rs886044458 0.00004
NM_001360016.2(G6PD):c.771-8G>A rs368790003 0.00004
NM_001365999.1(SZT2):c.1272A>G (p.Gln424=) rs780157180 0.00004
NM_001375808.2(LPIN2):c.1122A>G (p.Ser374=) rs748347465 0.00004
NM_001375808.2(LPIN2):c.1281C>T (p.Pro427=) rs778559792 0.00004
NM_001375808.2(LPIN2):c.1797G>A (p.Pro599=) rs772568696 0.00004
NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=) rs374214760 0.00004
NM_001376013.1(EPB41):c.2184+36G>A rs760095510 0.00004
NM_001382430.1(AKT1):c.1194C>T (p.Asp398=) rs151254374 0.00004
NM_001386125.1(OBSCN):c.9499A>G (p.Ile3167Val) rs764679750 0.00004
NM_001844.5(COL2A1):c.2490C>T (p.Pro830=) rs772029902 0.00004
NM_001844.5(COL2A1):c.3150C>T (p.Gly1050=) rs376722458 0.00004
NM_002180.3(IGHMBP2):c.222C>T (p.Ser74=) rs139237340 0.00004
NM_002474.3(MYH11):c.1575+7G>A rs754750176 0.00004
NM_002474.3(MYH11):c.5379G>A (p.Gln1793=) rs375230260 0.00004
NM_002485.5(NBN):c.278C>T (p.Ser93Leu) rs12721593 0.00004
NM_002506.3(NGF):c.321C>T (p.Val107=) rs202005277 0.00004
NM_002524.5(NRAS):c.291-8G>A rs376187980 0.00004
NM_002529.4(NTRK1):c.1252-6C>G rs776728101 0.00004
NM_002769.5(PRSS1):c.291C>G (p.Pro97=) rs200763933 0.00004
NM_002880.4(RAF1):c.1194-16C>T rs754344039 0.00004
NM_002890.3(RASA1):c.2337C>T (p.Ser779=) rs758662266 0.00004
NM_002907.4(RECQL):c.135A>G (p.Lys45=) rs760544315 0.00004
NM_002972.4(SBF1):c.2982C>T (p.Ala994=) rs571868041 0.00004
NM_003036.4(SKI):c.726C>T (p.Ala242=) rs139227600 0.00004
NM_003072.5(SMARCA4):c.3201C>T (p.Gly1067=) rs763916022 0.00004
NM_003242.6(TGFBR2):c.617C>T (p.Thr206Met) rs150022335 0.00004
NM_003319.4(TTN):c.37778-4C>G rs369934310 0.00004
NM_003482.4(KMT2D):c.8304C>T (p.Ser2768=) rs369611929 0.00004
NM_003978.5(PSTPIP1):c.-120G>A rs759583926 0.00004
NM_003978.5(PSTPIP1):c.687C>T (p.Asn229=) rs542286074 0.00004
NM_004004.6(GJB2):c.78C>T (p.Thr26=) rs201848820 0.00004
NM_004006.3(DMD):c.1848C>A (p.Ser616=) rs376024929 0.00004
NM_004082.5(DCTN1):c.2952C>G (p.Ala984=) rs371241720 0.00004
NM_004239.4(TRIP11):c.4159G>A (p.Glu1387Lys) rs201607866 0.00004
NM_004333.6(BRAF):c.915G>A (p.Ala305=) rs145675911 0.00004
NM_004360.5(CDH1):c.84C>T (p.Cys28=) rs587780789 0.00004
NM_004444.5(EPHB4):c.2485-11C>T rs762090376 0.00004
NM_004655.4(AXIN2):c.2004G>A (p.Gly668=) rs144092307 0.00004
NM_005359.6(SMAD4):c.1218G>A (p.Ala406=) rs145097078 0.00004
NM_005529.7(HSPG2):c.1508-19C>T rs556696218 0.00004
NM_005529.7(HSPG2):c.7738-8T>C rs753647916 0.00004
NM_005609.4(PYGM):c.1353C>T (p.His451=) rs377599118 0.00004
NM_005633.4(SOS1):c.2156G>C (p.Gly719Ala) rs200794965 0.00004
NM_005902.4(SMAD3):c.1125C>T (p.Ser375=) rs144245324 0.00004
NM_006005.3(WFS1):c.1743C>T (p.Gly581=) rs377539343 0.00004
NM_006129.5(BMP1):c.2166C>T (p.Phe722=) rs149426277 0.00004
NM_006182.4(DDR2):c.444T>C (p.Tyr148=) rs774706415 0.00004
NM_006258.4(PRKG1):c.2049T>C (p.Asp683=) rs771700923 0.00004
NM_006343.3(MERTK):c.339T>C (p.Phe113=) rs1419559740 0.00004
NM_006445.4(PRPF8):c.6108A>G (p.Gln2036=) rs373131838 0.00004
NM_007272.3(CTRC):c.493+3G>A rs772436044 0.00004
NM_007294.4(BRCA1):c.1470A>G (p.Pro490=) rs775032066 0.00004
NM_007294.4(BRCA1):c.2669G>T (p.Gly890Val) rs80356874 0.00004
NM_007294.4(BRCA1):c.2884G>A (p.Glu962Lys) rs80356955 0.00004
NM_007294.4(BRCA1):c.4036G>A (p.Glu1346Lys) rs80357407 0.00004
NM_007294.4(BRCA1):c.425C>A (p.Pro142His) rs55971303 0.00004
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) rs80356991 0.00004
NM_007294.4(BRCA1):c.4729T>C (p.Ser1577Pro) rs80356909 0.00004
NM_007294.4(BRCA1):c.5157G>T (p.Val1719=) rs28897697 0.00004
NM_007294.4(BRCA1):c.570C>T (p.Thr190=) rs201536070 0.00004
NM_014236.4(GNPAT):c.1482A>G (p.Leu494=) rs894887033 0.00004
NM_014391.3(ANKRD1):c.496T>C (p.Leu166=) rs550582183 0.00004
NM_015046.7(SETX):c.1140T>G (p.Pro380=) rs140553290 0.00004
NM_015915.5(ATL1):c.1551+41T>C rs756151411 0.00004
NM_017617.5(NOTCH1):c.4587-6C>T rs368601709 0.00004
NM_017617.5(NOTCH1):c.5715C>T (p.Asp1905=) rs748200129 0.00004
NM_017617.5(NOTCH1):c.6120T>C (p.Asn2040=) rs201625763 0.00004
NM_017617.5(NOTCH1):c.6573G>A (p.Leu2191=) rs758591166 0.00004
NM_017668.3(NDE1):c.*631A>G rs373371913 0.00004
NM_018706.7(DHTKD1):c.876C>T (p.Ala292=) rs556079764 0.00004
NM_021625.5(TRPV4):c.1899C>T (p.Val633=) rs753027239 0.00004
NM_021939.4(FKBP10):c.942T>C (p.Asn314=) rs376553350 0.00004
NM_022114.4(PRDM16):c.777G>A (p.Ala259=) rs557978089 0.00004
NM_022356.4(P3H1):c.2190G>A (p.Ser730=) rs537555305 0.00004
NM_022356.4(P3H1):c.809-5T>C rs781474350 0.00004
NM_022489.4(INF2):c.2043G>A (p.Glu681=) rs776591878 0.00004
NM_024120.5(NDUFAF5):c.237C>T (p.Ile79=) rs777081419 0.00004
NM_024577.4(SH3TC2):c.1623G>A (p.Lys541=) rs372749343 0.00004
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val) rs537258442 0.00004
NM_025132.4(WDR19):c.2577G>A (p.Ala859=) rs753596825 0.00004
NM_025132.4(WDR19):c.2742T>C (p.Ala914=) rs753812144 0.00004
NM_032043.3(BRIP1):c.1626C>T (p.Ser542=) rs373709958 0.00004
NM_032043.3(BRIP1):c.69G>A (p.Pro23=) rs45458996 0.00004
NM_033360.4(KRAS):c.112-10C>T rs760989619 0.00004
NM_080680.3(COL11A2):c.3974C>T (p.Ser1325Leu) rs543145528 0.00004
NM_138477.4(CDAN1):c.2577G>A (p.Pro859=) rs368274213 0.00004
NM_138477.4(CDAN1):c.3046G>A (p.Ala1016Thr) rs369116219 0.00004
NM_201253.3(CRB1):c.1014C>A (p.Ile338=) rs771549675 0.00004
NM_203486.3(DLL3):c.409+19G>T rs201227250 0.00004
NM_203486.3(DLL3):c.984C>T (p.Val328=) rs138378695 0.00004
NC_000014.9:g.105854900G>T rs373184157 0.00003
NM_000018.4(ACADVL):c.1532+11G>A rs372900326 0.00003
NM_000020.3(ACVRL1):c.1377+785G>A rs568206326 0.00003
NM_000037.4(ANK1):c.1305+21G>A rs1432243965 0.00003
NM_000051.4(ATM):c.1332C>A (p.Pro444=) rs763361384 0.00003
NM_000051.4(ATM):c.9006C>T (p.Phe3002=) rs540172506 0.00003
NM_000053.4(ATP7B):c.2127C>T (p.Leu709=) rs780843377 0.00003
NM_000059.4(BRCA2):c.3225T>C (p.Ser1075=) rs779228375 0.00003
NM_000059.4(BRCA2):c.7977-23T>C rs113433416 0.00003
NM_000059.4(BRCA2):c.8010G>A (p.Ser2670=) rs146430937 0.00003
NM_000059.4(BRCA2):c.9253A>C (p.Thr3085Pro) rs397507423 0.00003
NM_000071.3(CBS):c.317-22G>A rs200724824 0.00003
NM_000089.4(COL1A2):c.694-15T>C rs779799840 0.00003
NM_000093.5(COL5A1):c.2182G>A (p.Ala728Thr) rs575535171 0.00003
NM_000093.5(COL5A1):c.3564C>A (p.Ile1188=) rs766961124 0.00003
NM_000093.5(COL5A1):c.3912C>T (p.Pro1304=) rs773909152 0.00003
NM_000093.5(COL5A1):c.735C>T (p.Asp245=) rs746769184 0.00003
NM_000095.3(COMP):c.2087+11C>T rs763334255 0.00003
NM_000133.4(F9):c.177C>A (p.Asn59Lys) rs139089559 0.00003
NM_000138.5(FBN1):c.4719T>C (p.Pro1573=) rs761947423 0.00003
NM_000138.5(FBN1):c.7842T>G (p.Ala2614=) rs764496589 0.00003
NM_000141.5(FGFR2):c.1440-14A>G rs1053077541 0.00003
NM_000188.3(HK1):c.1545C>T (p.Phe515=) rs61751207 0.00003
NM_000218.3(KCNQ1):c.501C>T (p.Phe167=) rs774085613 0.00003
NM_000243.3(MEFV):c.1803T>A (p.Ile601=) rs779572391 0.00003
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg) rs587779965 0.00003
NM_000256.3(MYBPC3):c.2211G>A (p.Thr737=) rs113265977 0.00003
NM_000260.4(MYO7A):c.2970C>T (p.Asp990=) rs782703928 0.00003
NM_000260.4(MYO7A):c.690G>A (p.Ala230=) rs368358972 0.00003
NM_000264.5(PTCH1):c.655-12T>C rs376472172 0.00003
NM_000298.6(PKLR):c.694+42G>C rs781481607 0.00003
NM_000302.4(PLOD1):c.303-10C>T rs750987724 0.00003
NM_000302.4(PLOD1):c.813C>T (p.Asp271=) rs373471550 0.00003
NM_000314.8(PTEN):c.-246C>T rs886047393 0.00003
NM_000314.8(PTEN):c.855A>G (p.Glu285=) rs751888926 0.00003
NM_000335.5(SCN5A):c.1188C>T (p.Val396=) rs749683415 0.00003
NM_000368.5(TSC1):c.3129C>T (p.Ser1043=) rs201192125 0.00003
NM_000393.5(COL5A2):c.399G>A (p.Pro133=) rs369867930 0.00003
NM_000435.3(NOTCH3):c.2589G>A (p.Ser863=) rs530503488 0.00003
NM_000478.6(ALPL):c.863-15T>C rs373980626 0.00003
NM_000492.4(CFTR):c.1086T>C (p.Tyr362=) rs397508155 0.00003
NM_000492.4(CFTR):c.3177A>G (p.Leu1059=) rs1800113 0.00003
NM_000492.4(CFTR):c.4182T>C (p.Asp1394=) rs763937782 0.00003
NM_000517.6(HBA2):c.95+21C>G rs563472142 0.00003
NM_000518.5(HBB):c.-31C>T rs63750628 0.00003
NM_000518.5(HBB):c.316-28G>A rs771736852 0.00003
NM_000527.5(LDLR):c.1692T>C (p.Asn564=) rs528405760 0.00003
NM_000548.5(TSC2):c.3663G>A (p.Ser1221=) rs137854268 0.00003
NM_000552.5(VWF):c.3747T>C (p.Asp1249=) rs200893595 0.00003
NM_000942.5(PPIB):c.135+14C>T rs779741523 0.00003
NM_001003800.2(BICD2):c.165C>T (p.His55=) rs150915279 0.00003
NM_001003800.2(BICD2):c.1725C>G (p.Pro575=) rs201343832 0.00003
NM_001009944.3(PKD1):c.2986-14G>A rs376382731 0.00003
NM_001009944.3(PKD1):c.3168C>T (p.Thr1056=) rs770188395 0.00003
NM_001009944.3(PKD1):c.4338C>T (p.Thr1446=) rs781761438 0.00003
NM_001009944.3(PKD1):c.7851C>T (p.Thr2617=) rs754620450 0.00003
NM_001013703.4(EIF2AK4):c.3705G>A (p.Leu1235=) rs367722329 0.00003
NM_001018005.2(TPM1):c.564-12C>T rs113591254 0.00003
NM_001042492.3(NF1):c.1296G>A (p.Val432=) rs371599283 0.00003
NM_001042492.3(NF1):c.6643-19A>G rs544476647 0.00003
NM_001042492.3(NF1):c.7910G>A (p.Arg2637Gln) rs560262404 0.00003
NM_001048174.2(MUTYH):c.900C>T (p.Asp300=) rs587780752 0.00003
NM_001110556.2(FLNA):c.4344G>A (p.Ala1448=) rs782529594 0.00003
NM_001110556.2(FLNA):c.4594C>T (p.Arg1532Trp) rs782563345 0.00003
NM_001110556.2(FLNA):c.6363C>T (p.Ala2121=) rs782107005 0.00003
NM_001110556.2(FLNA):c.7353C>T (p.Val2451=) rs1057521797 0.00003
NM_001110556.2(FLNA):c.759C>T (p.Asp253=) rs782701643 0.00003
NM_001114753.3(ENG):c.1428+127G>A rs761685402 0.00003
NM_001114753.3(ENG):c.524-13C>T rs756926952 0.00003
NM_001127671.2(LIFR):c.2670+6C>G rs898718526 0.00003
NM_001130823.3(DNMT1):c.4746C>T (p.Phe1582=) rs780641040 0.00003
NM_001142864.4(PIEZO1):c.1207C>T (p.Arg403Trp) rs536446748 0.00003
NM_001142864.4(PIEZO1):c.4234+18G>A rs778887008 0.00003
NM_001184.4(ATR):c.5889C>T (p.Leu1963=) rs1032716786 0.00003
NM_001199397.3(NEK1):c.426A>G (p.Val142=) rs200769726 0.00003
NM_001244008.2(KIF1A):c.4176C>T (p.Phe1392=) rs754203456 0.00003
NM_001267550.2(TTN):c.39463+18T>G rs550378650 0.00003
NM_001267550.2(TTN):c.44367C>T (p.Tyr14789=) rs750270873 0.00003
NM_001267550.2(TTN):c.53100T>G (p.Pro17700=) rs373140387 0.00003
NM_001353214.3(DYM):c.1912-15C>T rs764087116 0.00003
NM_001355436.2(SPTB):c.5279C>T (p.Ala1760Val) rs778913256 0.00003
NM_001355436.2(SPTB):c.5810C>G (p.Ser1937Cys) rs764560431 0.00003
NM_001370466.1(NOD2):c.2658C>T (p.Asp886=) rs104895451 0.00003
NM_001375808.2(LPIN2):c.2316C>T (p.Ser772=) rs145270447 0.00003
NM_001376.5(DYNC1H1):c.10548C>T (p.Tyr3516=) rs760532492 0.00003
NM_001379610.1(SPINK1):c.*27G>T rs368871387 0.00003
NM_001386125.1(OBSCN):c.17133G>A (p.Thr5711=) rs372921390 0.00003
NM_001844.5(COL2A1):c.2410-7C>T rs767041085 0.00003
NM_001854.4(COL11A1):c.4176C>A (p.Thr1392=) rs750903509 0.00003
NM_001999.4(FBN2):c.195G>A (p.Glu65=) rs750055830 0.00003
NM_001999.4(FBN2):c.3279C>T (p.Ile1093=) rs142809999 0.00003
NM_001999.4(FBN2):c.5814C>T (p.Cys1938=) rs753556200 0.00003
NM_002246.3(KCNK3):c.1097C>T (p.Ala366Val) rs773773071 0.00003
NM_002471.4(MYH6):c.4140C>T (p.Asp1380=) rs199672166 0.00003
NM_002471.4(MYH6):c.636G>A (p.Ala212=) rs111265123 0.00003
NM_002474.3(MYH11):c.5187C>T (p.Asp1729=) rs145101141 0.00003
NM_002474.3(MYH11):c.5696A>G (p.Asn1899Ser) rs79129097 0.00003
NM_002661.5(PLCG2):c.2121C>T (p.Ser707=) rs527809751 0.00003
NM_002661.5(PLCG2):c.3657A>T (p.Thr1219=) rs201318091 0.00003
NM_002691.4(POLD1):c.1362C>T (p.Arg454=) rs773075581 0.00003
NM_002838.5(PTPRC):c.1818G>A (p.Lys606=) rs575318196 0.00003
NM_002972.4(SBF1):c.219C>T (p.Ile73=) rs750211528 0.00003
NM_003060.4(SLC22A5):c.523G>A (p.Val175Met) rs781721860 0.00003
NM_003242.6(TGFBR2):c.1680C>T (p.Asp560=) rs376815143 0.00003
NM_003482.4(KMT2D):c.16197G>A (p.Val5399=) rs776542344 0.00003
NM_003482.4(KMT2D):c.7035G>A (p.Leu2345=) rs398123756 0.00003
NM_003640.5(ELP1):c.2082T>A (p.Gly694=) rs760054484 0.00003
NM_003978.5(PSTPIP1):c.864C>T (p.Tyr288=) rs763986763 0.00003
NM_004004.6(GJB2):c.258G>A (p.Thr86=) rs139362103 0.00003
NM_004006.3(DMD):c.4373T>A (p.Phe1458Tyr) rs777274879 0.00003
NM_004006.3(DMD):c.4684A>G (p.Arg1562Gly) rs771425504 0.00003
NM_004239.4(TRIP11):c.1587C>T (p.Ile529=) rs762961289 0.00003
NM_004415.4(DSP):c.3231G>A (p.Ala1077=) rs368214030 0.00003
NM_004612.4(TGFBR1):c.-4G>A rs1007933061 0.00003
NM_004984.4(KIF5A):c.1167G>A (p.Leu389=) rs758700375 0.00003
NM_004990.4(MARS1):c.1479C>A (p.Arg493=) rs148191586 0.00003
NM_005188.4(CBL):c.1920G>A (p.Thr640=) rs202158626 0.00003
NM_005529.7(HSPG2):c.606C>T (p.Ala202=) rs189811325 0.00003
NM_005591.4(MRE11):c.846-12T>C rs587780145 0.00003
NM_006031.6(PCNT):c.6458A>G (p.Asn2153Ser) rs758705082 0.00003
NM_007078.3(LDB3):c.1962G>A (p.Glu654=) rs201063130 0.00003
NM_007272.3(CTRC):c.356+7G>C rs773334021 0.00003
NM_007294.4(BRCA1):c.212+21G>A rs80358147 0.00003
NM_007294.4(BRCA1):c.4096+30C>T rs369055904 0.00003
NM_007294.4(BRCA1):c.4185+10G>C rs80358104 0.00003
NM_007294.4(BRCA1):c.5152+15A>G rs750905289 0.00003
NM_014249.4(NR2E3):c.768G>A (p.Ala256=) rs1448837236 0.00003
NM_014365.3(HSPB8):c.534A>G (p.Gly178=) rs756610498 0.00003
NM_016169.4(SUFU):c.666G>T (p.Leu222=) rs142383792 0.00003
NM_017617.5(NOTCH1):c.3510+3G>A rs372739350 0.00003
NM_017780.4(CHD7):c.8610G>A (p.Ala2870=) rs375459176 0.00003
NM_020631.6(PLEKHG5):c.813G>A (p.Glu271=) rs777414805 0.00003
NM_021625.5(TRPV4):c.1827T>A (p.Ile609=) rs757493897 0.00003
NM_022356.4(P3H1):c.2055+48G>A rs773921230 0.00003
NM_022489.4(INF2):c.2311-4C>G rs371953149 0.00003
NM_022489.4(INF2):c.2418+19G>A rs770701500 0.00003
NM_024334.3(TMEM43):c.96C>T (p.Thr32=) rs1021721320 0.00003
NM_031443.4(CCM2):c.48A>T (p.Pro16=) rs142320735 0.00003
NM_032601.4(MCEE):c.178A>C (p.Lys60Gln) rs147401037 0.00003
NM_053025.4(MYLK):c.3048T>C (p.Asn1016=) rs758822048 0.00003
NM_053025.4(MYLK):c.4104C>T (p.Ile1368=) rs376676607 0.00003
NM_053025.4(MYLK):c.609G>A (p.Pro203=) rs748312013 0.00003
NM_138477.4(CDAN1):c.3261C>G (p.Ser1087=) rs371567068 0.00003
NM_139125.4(MASP1):c.1530A>C (p.Pro510=) rs200791230 0.00003
NM_147127.5(EVC2):c.885C>T (p.His295=) rs752378780 0.00003
NM_152594.3(SPRED1):c.306G>A (p.Thr102=) rs372791883 0.00003
NM_170707.4(LMNA):c.1381-13A>G rs750192865 0.00003
NM_170707.4(LMNA):c.885G>A (p.Ser295=) rs776999079 0.00003
NM_172250.3(MMAA):c.970-5G>A rs370814663 0.00003
NM_182925.5(FLT4):c.2407-18C>T rs1474651988 0.00003
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala) rs372081834 0.00003
NM_000020.3(ACVRL1):c.1378-417C>T rs1038380207 0.00002
NM_000037.4(ANK1):c.2352C>T (p.Asp784=) rs751238125 0.00002
NM_000038.6(APC):c.729+15T>C rs746211944 0.00002
NM_000051.4(ATM):c.2085G>A (p.Leu695=) rs786202229 0.00002
NM_000053.4(ATP7B):c.396C>T (p.Ser132=) rs377081763 0.00002
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg) rs28897709 0.00002
NM_000059.4(BRCA2):c.183A>G (p.Leu61=) rs776638534 0.00002
NM_000059.4(BRCA2):c.2256C>T (p.Asp752=) rs766384913 0.00002
NM_000059.4(BRCA2):c.2484T>C (p.Tyr828=) rs45619134 0.00002
NM_000059.4(BRCA2):c.3916G>A (p.Val1306Ile) rs80358636 0.00002
NM_000059.4(BRCA2):c.5474C>T (p.Ala1825Val) rs397507352 0.00002
NM_000059.4(BRCA2):c.631+26A>T rs763209547 0.00002
NM_000059.4(BRCA2):c.708T>C (p.His236=) rs185506536 0.00002
NM_000088.4(COL1A1):c.1299C>T (p.Ser433=) rs776229611 0.00002
NM_000088.4(COL1A1):c.1515+6C>T rs369422507 0.00002
NM_000090.4(COL3A1):c.1860A>T (p.Pro620=) rs141128796 0.00002
NM_000090.4(COL3A1):c.3069C>A (p.Gly1023=) rs778417073 0.00002
NM_000093.5(COL5A1):c.4794C>T (p.Gly1598=) rs863223481 0.00002
NM_000093.5(COL5A1):c.57G>A (p.Leu19=) rs761259908 0.00002
NM_000095.3(COMP):c.975+10C>T rs1451106951 0.00002
NM_000138.5(FBN1):c.2154G>A (p.Thr718=) rs377033515 0.00002
NM_000138.5(FBN1):c.4488G>A (p.Thr1496=) rs370494288 0.00002
NM_000138.5(FBN1):c.6387C>T (p.Asp2129=) rs147342485 0.00002
NM_000138.5(FBN1):c.6872-12A>G rs568325297 0.00002
NM_000142.5(FGFR3):c.2169-4G>A rs758292253 0.00002
NM_000143.4(FH):c.904+13G>A rs572806212 0.00002
NM_000179.3(MSH6):c.354A>G (p.Thr118=) rs558590898 0.00002
NM_000218.3(KCNQ1):c.1386C>T (p.Asp462=) rs749631604 0.00002
NM_000238.4(KCNH2):c.76+18C>T rs749396597 0.00002
NM_000243.3(MEFV):c.1611-33G>A rs557544409 0.00002
NM_000249.4(MLH1):c.1872C>T (p.Asp624=) rs145535636 0.00002
NM_000249.4(MLH1):c.303T>G (p.Gly101=) rs4647220 0.00002
NM_000302.4(PLOD1):c.1023C>T (p.Gly341=) rs755056846 0.00002
NM_000302.4(PLOD1):c.882C>T (p.Ile294=) rs747668784 0.00002
NM_000335.5(SCN5A):c.2976C>T (p.Pro992=) rs193922725 0.00002
NM_000335.5(SCN5A):c.453C>T (p.His151=) rs199996750 0.00002
NM_000365.6(TPI1):c.543+5C>G rs782153322 0.00002
NM_000368.5(TSC1):c.3237C>T (p.Gly1079=) rs749995749 0.00002
NM_000393.5(COL5A2):c.906+10A>T rs776578452 0.00002
NM_000435.3(NOTCH3):c.267C>T (p.Gly89=) rs780210842 0.00002
NM_000459.5(TEK):c.1789T>C (p.Leu597=) rs755053781 0.00002
NM_000459.5(TEK):c.1909+18C>G rs41303213 0.00002
NM_000459.5(TEK):c.858G>T (p.Gly286=) rs747484849 0.00002
NM_000478.6(ALPL):c.1470C>T (p.Ile490=) rs771120248 0.00002
NM_000492.4(CFTR):c.2262G>C (p.Val754=) rs1201012182 0.00002
NM_000492.4(CFTR):c.3789T>C (p.Thr1263=) rs200921635 0.00002
NM_000517.6(HBA2):c.*103G>A rs1363099908 0.00002
NM_000517.6(HBA2):c.64G>C (p.Ala22Pro) rs281864817 0.00002
NM_000518.5(HBB):c.170G>A (p.Gly57Asp) rs34439278 0.00002
NM_000518.5(HBB):c.262A>C (p.Thr88Pro) rs35553496 0.00002
NM_000518.5(HBB):c.359G>A (p.Gly120Asp) rs33947020 0.00002
NM_000518.5(HBB):c.93-40C>T rs556727592 0.00002
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met) rs567102013 0.00002
NM_000535.7(PMS2):c.1680T>C (p.Cys560=) rs752143026 0.00002
NM_000546.6(TP53):c.249G>A (p.Ala83=) rs55754907 0.00002
NM_001005242.3(PKP2):c.1379-2071G>A rs776244945 0.00002
NM_001009944.3(PKD1):c.12486C>A (p.Pro4162=) rs759210811 0.00002
NM_001009944.3(PKD1):c.7703+12C>T rs542748732 0.00002
NM_001110556.2(FLNA):c.2953G>A (p.Val985Ile) rs781884864 0.00002
NM_001110556.2(FLNA):c.4368C>T (p.Pro1456=) rs782080545 0.00002
NM_001110556.2(FLNA):c.5271G>A (p.Leu1757=) rs782031542 0.00002
NM_001110556.2(FLNA):c.5661C>T (p.Thr1887=) rs782253233 0.00002
NM_001110556.2(FLNA):c.5694G>A (p.Leu1898=) rs782618942 0.00002
NM_001110556.2(FLNA):c.6915C>T (p.Tyr2305=) rs781910090 0.00002
NM_001110556.2(FLNA):c.7089G>A (p.Ala2363=) rs781843787 0.00002
NM_001130823.3(DNMT1):c.1935T>C (p.Asp645=) rs749498068 0.00002
NM_001142864.4(PIEZO1):c.150C>T (p.Cys50=) rs934325198 0.00002
NM_001142864.4(PIEZO1):c.219C>G (p.Ala73=) rs895722966 0.00002
NM_001148.6(ANK2):c.2900+5125C>G rs779697542 0.00002
NM_001244008.2(KIF1A):c.1577+7G>A rs781749303 0.00002
NM_001267550.2(TTN):c.52449C>T (p.Thr17483=) rs374894182 0.00002
NM_001277115.2(DNAH11):c.495+18A>G rs779666043 0.00002
NM_001291415.2(KDM6A):c.4255G>A (p.Gly1419Arg) rs370298215 0.00002
NM_001291867.2(NHS):c.249G>T (p.Pro83=) rs1240476811 0.00002
NM_001355436.2(SPTB):c.3747G>A (p.Val1249=) rs769686954 0.00002
NM_001365088.1(SLC12A6):c.1825-16T>C rs763005505 0.00002
NM_001365088.1(SLC12A6):c.1998A>G (p.Leu666=) rs761707485 0.00002
NM_001369.3(DNAH5):c.11455+7T>G rs774101738 0.00002
NM_001370259.2(MEN1):c.1695G>T (p.Leu565=) rs767677287 0.00002
NM_001375808.2(LPIN2):c.1362C>T (p.Ser454=) rs371484024 0.00002
NM_001377.3(DYNC2H1):c.10998A>G (p.Ala3666=) rs758373368 0.00002
NM_001377.3(DYNC2H1):c.4127+10A>G rs369188420 0.00002
NM_001378454.1(ALMS1):c.764+19A>G rs1035974697 0.00002
NM_001379270.1(CNGA1):c.858A>G (p.Thr286=) rs533594644 0.00002
NM_001386125.1(OBSCN):c.5647G>A (p.Glu1883Lys) rs371852931 0.00002
NM_001386795.1(DTNA):c.1994-18T>A rs772589214 0.00002
NM_001457.4(FLNB):c.246G>C (p.Val82=) rs780155723 0.00002
NM_001457.4(FLNB):c.2484+19G>A rs765081115 0.00002
NM_001457.4(FLNB):c.3189C>T (p.Ile1063=) rs769902031 0.00002
NM_001498.4(GCLC):c.565T>C (p.Leu189=) rs774375409 0.00002
NM_001927.4(DES):c.897+13G>A rs201433470 0.00002
NM_001972.4(ELANE):c.108G>A (p.Ala36=) rs886109432 0.00002
NM_001999.4(FBN2):c.1194C>T (p.Ile398=) rs766004910 0.00002
NM_001999.4(FBN2):c.4779C>T (p.Cys1593=) rs780191346 0.00002
NM_001999.4(FBN2):c.533-6A>G rs56400997 0.00002
NM_002047.4(GARS1):c.1359C>T (p.Tyr453=) rs901778260 0.00002
NM_002180.3(IGHMBP2):c.1071C>T (p.Ala357=) rs755300047 0.00002
NM_002180.3(IGHMBP2):c.2862C>T (p.Ser954=) rs377433281 0.00002
NM_002474.3(MYH11):c.1402-13G>A rs201713082 0.00002
NM_002474.3(MYH11):c.684C>T (p.Phe228=) rs368292089 0.00002
NM_002972.4(SBF1):c.1917C>T (p.Asp639=) rs750516504 0.00002
NM_002972.4(SBF1):c.651G>A (p.Gln217=) rs1292863100 0.00002
NM_003000.3(SDHB):c.73-11A>C rs927103985 0.00002
NM_003036.4(SKI):c.2013G>A (p.Gln671=) rs1040803635 0.00002
NM_003073.5(SMARCB1):c.237C>T (p.His79=) rs200394488 0.00002
NM_003126.4(SPTA1):c.5834-13T>C rs370452867 0.00002
NM_003238.6(TGFB2):c.798T>A (p.Thr266=) rs376354795 0.00002
NM_003476.5(CSRP3):c.282-16C>T rs757074408 0.00002
NM_003978.5(PSTPIP1):c.838+9C>T rs778120164 0.00002
NM_004006.3(DMD):c.10677T>C (p.Ile3559=) rs765950547 0.00002
NM_004006.3(DMD):c.3498A>G (p.Leu1166=) rs767446687 0.00002
NM_004082.5(DCTN1):c.3699+16G>A rs747490958 0.00002
NM_004444.5(EPHB4):c.2834+17G>A rs374898029 0.00002
NM_004984.4(KIF5A):c.1164C>A (p.Ala388=) rs745882021 0.00002
NM_004984.4(KIF5A):c.510T>G (p.Thr170=) rs369289917 0.00002
NM_005219.5(DIAPH1):c.3675C>T (p.Ala1225=) rs371385202 0.00002
NM_005359.6(SMAD4):c.425-17C>T rs767419859 0.00002
NM_005529.7(HSPG2):c.3732T>C (p.Arg1244=) rs572839851 0.00002
NM_005529.7(HSPG2):c.5598C>T (p.Pro1866=) rs768493622 0.00002
NM_005548.3(KARS1):c.1695+4C>T rs747781002 0.00002
NM_005633.4(SOS1):c.396A>T (p.Ala132=) rs727505385 0.00002
NM_006031.6(PCNT):c.5994+17G>A rs570628453 0.00002
NM_006031.6(PCNT):c.7045G>C (p.Ala2349Pro) rs772025323 0.00002
NM_006031.6(PCNT):c.7167G>A (p.Pro2389=) rs745406750 0.00002
NM_006231.4(POLE):c.351A>G (p.Ser117=) rs199773841 0.00002
NM_006258.4(PRKG1):c.841-9T>C rs553608826 0.00002
NM_006269.2(RP1):c.3504G>A (p.Lys1168=) rs191997072 0.00002
NM_006371.5(CRTAP):c.1182C>G (p.Leu394=) rs1393973409 0.00002
NM_006506.5(RASA2):c.1216C>T (p.Leu406=) rs146956359 0.00002
NM_007272.3(CTRC):c.494-13A>G rs762842599 0.00002
NM_007294.4(BRCA1):c.3636A>G (p.Ser1212=) rs148038877 0.00002
NM_007294.4(BRCA1):c.4484+40T>A rs1159005094 0.00002
NM_007294.4(BRCA1):c.4676-7C>T rs80358005 0.00002
NM_007294.4(BRCA1):c.5194-34C>T rs760208409 0.00002
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg) rs80357322 0.00002
NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala) rs730881018 0.00002
NM_013314.4(BLNK):c.156C>T (p.Tyr52=) rs782546596 0.00002
NM_015139.3(SLC35D1):c.660C>G (p.Leu220=) rs1277339639 0.00002
NM_016203.4(PRKAG2):c.138G>A (p.Pro46=) rs767613486 0.00002
NM_017617.5(NOTCH1):c.5935-11C>T rs768074148 0.00002
NM_019844.4(SLCO1B3):c.264A>C (p.Gly88=) rs374616195 0.00002
NM_020312.4(COQ9):c.362T>C (p.Ile121Thr) rs547254482 0.00002
NM_020631.6(PLEKHG5):c.2274C>G (p.Thr758=) rs147386989 0.00002
NM_021629.4(GNB4):c.432G>A (p.Gly144=) rs759607911 0.00002
NM_032119.4(ADGRV1):c.14157A>G (p.Leu4719=) rs779582048 0.00002
NM_032409.3(PINK1):c.434C>T (p.Thr145Met) rs45604240 0.00002
NM_032578.4(MYPN):c.1200A>G (p.Gln400=) rs768030641 0.00002
NM_053025.4(MYLK):c.2141-19G>T rs530951493 0.00002
NM_053025.4(MYLK):c.5155C>T (p.Leu1719=) rs1057523680 0.00002
NM_053025.4(MYLK):c.771T>C (p.Asn257=) rs369494886 0.00002
NM_133171.5(ELMO2):c.1416+9C>G rs770529533 0.00002
NM_133379.5(TTN):c.12462T>A (p.Thr4154=) rs1243996325 0.00002
NM_138477.4(CDAN1):c.2750T>G (p.Ile917Ser) rs529452785 0.00002
NM_144687.4(NLRP12):c.78G>A (p.Lys26=) rs148263031 0.00002
NM_170707.4(LMNA):c.1098G>A (p.Lys366=) rs57901307 0.00002
NM_000018.4(ACADVL):c.1078-23G>A rs372299655 0.00001
NM_000018.4(ACADVL):c.864C>T (p.Phe288=) rs753748672 0.00001
NM_000020.3(ACVRL1):c.1378-368T>C rs1940945149 0.00001
NM_000022.4(ADA):c.312G>A (p.Pro104=) rs765878819 0.00001
NM_000037.4(ANK1):c.1602+18G>A rs764064612 0.00001
NM_000037.4(ANK1):c.4023G>A (p.Ser1341=) rs371816885 0.00001
NM_000037.4(ANK1):c.5598G>A (p.Gly1866=) rs775251229 0.00001
NM_000038.6(APC):c.5541G>A (p.Thr1847=) rs777449060 0.00001
NM_000038.6(APC):c.7143A>C (p.Gln2381His) rs756153152 0.00001
NM_000051.4(ATM):c.2467-7C>T rs768850329 0.00001
NM_000051.4(ATM):c.3132T>C (p.Asn1044=) rs1430714562 0.00001
NM_000051.4(ATM):c.372C>A (p.Ile124=) rs773495195 0.00001
NM_000051.4(ATM):c.4878T>C (p.Asp1626=) rs755687834 0.00001
NM_000051.4(ATM):c.6700C>T (p.Leu2234=) rs760602228 0.00001
NM_000053.4(ATP7B):c.1896C>A (p.Ala632=) rs752696791 0.00001
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=) rs751202110 0.00001
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=) rs375007352 0.00001
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala) rs80358393 0.00001
NM_000059.4(BRCA2):c.1141G>A (p.Asp381Asn) rs398122723 0.00001
NM_000059.4(BRCA2):c.2082T>C (p.Asn694=) rs777141329 0.00001
NM_000059.4(BRCA2):c.2364C>T (p.Gly788=) rs773035582 0.00001
NM_000059.4(BRCA2):c.3672C>T (p.Gly1224=) rs587780650 0.00001
NM_000059.4(BRCA2):c.3717A>G (p.Lys1239=) rs141196976 0.00001
NM_000059.4(BRCA2):c.426-24G>C rs1255464376 0.00001
NM_000059.4(BRCA2):c.4271C>G (p.Ser1424Cys) rs80358664 0.00001
NM_000059.4(BRCA2):c.4599A>C (p.Lys1533Asn) rs80358694 0.00001
NM_000059.4(BRCA2):c.5427C>T (p.Cys1809=) rs80359791 0.00001
NM_000059.4(BRCA2):c.6531T>A (p.Ile2177=) rs587780658 0.00001
NM_000059.4(BRCA2):c.6675A>G (p.Thr2225=) rs28897741 0.00001
NM_000059.4(BRCA2):c.7436-4A>G rs81002904 0.00001
NM_000059.4(BRCA2):c.7617+38A>G rs1555286323 0.00001
NM_000059.4(BRCA2):c.8331+14C>T rs1287378096 0.00001
NM_000059.4(BRCA2):c.8352G>T (p.Arg2784=) rs747664806 0.00001
NM_000059.4(BRCA2):c.8367T>C (p.Tyr2789=) rs201057885 0.00001
NM_000059.4(BRCA2):c.8488-19G>A rs398122607 0.00001
NM_000059.4(BRCA2):c.856T>C (p.Ser286Pro) rs80359111 0.00001
NM_000059.4(BRCA2):c.870C>T (p.Val290=) rs1177514552 0.00001
NM_000059.4(BRCA2):c.918T>C (p.Asp306=) rs184408918 0.00001
NM_000059.4(BRCA2):c.927A>G (p.Ser309=) rs80359806 0.00001
NM_000059.4(BRCA2):c.9972A>G (p.Pro3324=) rs786201647 0.00001
NM_000061.3(BTK):c.1791A>G (p.Pro597=) rs1340458277 0.00001
NM_000071.3(CBS):c.666+10C>A rs773040114 0.00001
NM_000075.4(CDK4):c.632+6G>A rs762362960 0.00001
NM_000088.4(COL1A1):c.1929+11A>G rs1323161515 0.00001
NM_000088.4(COL1A1):c.2883C>T (p.Val961=) rs761548060 0.00001
NM_000088.4(COL1A1):c.3441T>C (p.Ala1147=) rs768896689 0.00001
NM_000089.4(COL1A2):c.1503+11C>T rs538640615 0.00001
NM_000089.4(COL1A2):c.1761A>G (p.Pro587=) rs746150563 0.00001
NM_000089.4(COL1A2):c.280-7T>C rs750868020 0.00001
NM_000089.4(COL1A2):c.541-19A>G rs750692751 0.00001
NM_000090.4(COL3A1):c.1581T>C (p.Asp527=) rs890700564 0.00001
NM_000090.4(COL3A1):c.2766A>G (p.Pro922=) rs915948354 0.00001
NM_000090.4(COL3A1):c.333+15T>C rs764678861 0.00001
NM_000090.4(COL3A1):c.3693C>A (p.Thr1231=) rs368556405 0.00001
NM_000090.4(COL3A1):c.690+9T>C rs370451250 0.00001
NM_000092.5(COL4A4):c.4081+9C>G rs201688381 0.00001
NM_000092.5(COL4A4):c.933G>A (p.Gly311=) rs778118362 0.00001
NM_000093.5(COL5A1):c.2238C>T (p.Pro746=) rs373617798 0.00001
NM_000093.5(COL5A1):c.243G>A (p.Ala81=) rs540291731 0.00001
NM_000093.5(COL5A1):c.2646+12C>T rs751662116 0.00001
NM_000093.5(COL5A1):c.2845-8G>A rs775063630 0.00001
NM_000093.5(COL5A1):c.4302C>T (p.Pro1434=) rs755495352 0.00001
NM_000093.5(COL5A1):c.801C>T (p.Asp267=) rs778401280 0.00001
NM_000112.4(SLC26A2):c.114C>T (p.Asp38=) rs779527254 0.00001
NM_000121.4(EPOR):c.215T>C (p.Val72Ala) rs780617943 0.00001
NM_000132.4(F8):c.144-13T>G rs782248521 0.00001
NM_000138.5(FBN1):c.-28C>T rs780163247 0.00001
NM_000138.5(FBN1):c.1653C>T (p.Gly551=) rs766565738 0.00001
NM_000138.5(FBN1):c.1779T>C (p.Ser593=) rs372195702 0.00001
NM_000138.5(FBN1):c.2253T>C (p.Asn751=) rs1566912218 0.00001
NM_000138.5(FBN1):c.3255G>A (p.Gln1085=) rs767088495 0.00001
NM_000138.5(FBN1):c.3337+20A>G rs757193641 0.00001
NM_000138.5(FBN1):c.4056C>T (p.Pro1352=) rs766969494 0.00001
NM_000138.5(FBN1):c.4428C>T (p.Tyr1476=) rs767462642 0.00001
NM_000138.5(FBN1):c.989-10T>C rs774104217 0.00001
NM_000151.4(G6PC1):c.490C>T (p.Leu164=) rs987462071 0.00001
NM_000152.5(GAA):c.547-41G>C rs753870549 0.00001
NM_000155.4(GALT):c.753C>T (p.Tyr251=) rs367543261 0.00001
NM_000179.3(MSH6):c.1524G>A (p.Val508=) rs878853705 0.00001
NM_000179.3(MSH6):c.2940A>G (p.Glu980=) rs730881818 0.00001
NM_000179.3(MSH6):c.3084A>T (p.Ser1028=) rs786201843 0.00001
NM_000179.3(MSH6):c.81C>G (p.Ala27=) rs781496151 0.00001
NM_000188.3(HK1):c.2610-5T>C rs772324426 0.00001
NM_000218.3(KCNQ1):c.1851C>T (p.Leu617=) rs962199389 0.00001
NM_000238.4(KCNH2):c.473-5C>T rs1181633993 0.00001
NM_000243.3(MEFV):c.2166G>A (p.Val722=) rs762351424 0.00001
NM_000243.3(MEFV):c.786T>C (p.Thr262=) rs575521131 0.00001
NM_000249.4(MLH1):c.2082G>A (p.Glu694=) rs1057521441 0.00001
NM_000251.3(MSH2):c.1077-15G>T rs753277524 0.00001
NM_000251.3(MSH2):c.2006-4G>A rs369853630 0.00001
NM_000251.3(MSH2):c.375T>G (p.Pro125=) rs1427268231 0.00001
NM_000260.4(MYO7A):c.1455G>A (p.Leu485=) rs375528761 0.00001
NM_000314.8(PTEN):c.209+97T>C rs1283192594 0.00001
NM_000316.3(PTH1R):c.424+17G>A rs957491176 0.00001
NM_000368.5(TSC1):c.1794C>T (p.Ser598=) rs766438395 0.00001
NM_000371.4(TTR):c.200+20T>C rs2073494875 0.00001
NM_000371.4(TTR):c.70-16T>C rs759512847 0.00001
NM_000384.3(APOB):c.3846T>C (p.Asp1282=) rs368284858 0.00001
NM_000384.3(APOB):c.5490C>T (p.Ala1830=) rs886055585 0.00001
NM_000393.5(COL5A2):c.1302+9T>C rs1199559237 0.00001
NM_000393.5(COL5A2):c.691-15T>G rs756189756 0.00001
NM_000399.5(EGR2):c.1179C>T (p.Thr393=) rs965148587 0.00001
NM_000431.4(MVK):c.371+9G>A rs551460898 0.00001
NM_000431.4(MVK):c.519C>T (p.Cys173=) rs554487221 0.00001
NM_000435.3(NOTCH3):c.1494C>T (p.Gly498=) rs142762020 0.00001
NM_000435.3(NOTCH3):c.1952-26G>A rs543132032 0.00001
NM_000435.3(NOTCH3):c.5742C>G (p.Ala1914=) rs1315733874 0.00001
NM_000451.4(SHOX):c.723C>T (p.Phe241=) rs886042718 0.00001
NM_000463.3(UGT1A1):c.471C>T (p.Ser157=) rs765894633 0.00001
NM_000492.4(CFTR):c.-16C>T rs769128872 0.00001
NM_000492.4(CFTR):c.1209+7A>T rs767301152 0.00001
NM_000492.4(CFTR):c.1393-13G>A rs779389972 0.00001
NM_000492.4(CFTR):c.164+12T>C rs121908790 0.00001
NM_000492.4(CFTR):c.1766+33C>A rs1462418106 0.00001
NM_000492.4(CFTR):c.2055A>G (p.Gln685=) rs1457520634 0.00001
NM_000492.4(CFTR):c.2766A>G (p.Val922=) rs762906556 0.00001
NM_000492.4(CFTR):c.3139+11G>C rs555185521 0.00001
NM_000492.4(CFTR):c.3306A>G (p.Arg1102=) rs746620950 0.00001
NM_000492.4(CFTR):c.333G>A (p.Pro111=) rs776878618 0.00001
NM_000492.4(CFTR):c.3368-20C>T rs761144879 0.00001
NM_000492.4(CFTR):c.3441A>G (p.Val1147=) rs375687401 0.00001
NM_000492.4(CFTR):c.357C>T (p.Ile119=) rs1264742569 0.00001
NM_000492.4(CFTR):c.900C>A (p.Ala300=) rs146652541 0.00001
NM_000517.6(HBA2):c.193G>A (p.Asp65Asn) rs281864849 0.00001
NM_000517.6(HBA2):c.307A>C (p.Ser103Arg) rs41321052 0.00001
NM_000517.6(HBA2):c.414C>T (p.Thr138=) rs371394396 0.00001
NM_000518.4(HBB):c.23A>G (p.Glu8Gly) rs34387455 0.00001
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486 0.00001
NM_000518.4(HBB):c.430C>T (p.His144Tyr) rs33929415 0.00001
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) rs33936254 0.00001
NM_000518.5(HBB):c.122G>A (p.Arg41Lys) rs34831026 0.00001
NM_000518.5(HBB):c.131A>C (p.Glu44Ala) rs35262412 0.00001
NM_000518.5(HBB):c.171C>T (p.Gly57=) rs193922551 0.00001
NM_000518.5(HBB):c.209G>A (p.Gly70Asp) rs34718174 0.00001
NM_000518.5(HBB):c.286A>G (p.Lys96Glu) rs33914359 0.00001
NM_000518.5(HBB):c.316-238C>T rs558554234 0.00001
NM_000518.5(HBB):c.316-90A>G rs63750433 0.00001
NM_000518.5(HBB):c.353A>G (p.His118Arg) rs33935673 0.00001
NM_000518.5(HBB):c.380T>C (p.Val127Ala) rs33925391 0.00001
NM_000527.5(LDLR):c.1635G>A (p.Gly545=) rs767602284 0.00001
NM_000546.6(TP53):c.90C>T (p.Asn30=) rs370992294 0.00001
NM_000546.6(TP53):c.994-5T>C rs375273756 0.00001
NM_000548.5(TSC2):c.1258-18C>T rs778741704 0.00001
NM_000548.5(TSC2):c.3366T>C (p.Arg1122=) rs778352969 0.00001
NM_000548.5(TSC2):c.337-3T>C rs770515822 0.00001
NM_000548.5(TSC2):c.481+9C>T rs201026150 0.00001
NM_000548.5(TSC2):c.849-8A>G rs765336852 0.00001
NM_000558.3(HBA1):c.341T>A (p.Leu114His) rs35654345 0.00001
NM_000558.5(HBA1):c.255C>A (p.Ser85Arg) rs33996798 0.00001
NM_000558.5(HBA1):c.301-49C>T rs1237458487 0.00001
NM_000558.5(HBA1):c.62A>C (p.His21Pro) rs33943087 0.00001
NM_000558.5(HBA1):c.63C>A (p.His21Gln) rs281864502 0.00001
NM_000642.3(AGL):c.684C>T (p.Ile228=) rs961563586 0.00001
NM_000719.7(CACNA1C):c.3558+10dup rs1555884916 0.00001
NM_000719.7(CACNA1C):c.6039C>T (p.Pro2013=) rs780157730 0.00001
NM_001003800.2(BICD2):c.1500C>T (p.Ala500=) rs1275858663 0.00001
NM_001005361.3(DNM2):c.1110C>T (p.Phe370=) rs201700534 0.00001
NM_001005361.3(DNM2):c.1989C>T (p.Tyr663=) rs754264521 0.00001
NM_001009944.3(PKD1):c.12004-17A>G rs749829518 0.00001
NM_001009944.3(PKD1):c.12250C>T (p.Pro4084Ser) rs1363663761 0.00001
NM_001009944.3(PKD1):c.1304A>G (p.Gln435Arg) rs1426435123 0.00001
NM_001009944.3(PKD1):c.2854-7C>T rs1234512813 0.00001
NM_001009944.3(PKD1):c.2985+14G>A rs2432399 0.00001
NM_001009944.3(PKD1):c.6420C>T (p.Thr2140=) rs1321421286 0.00001
NM_001009944.3(PKD1):c.9518C>T (p.Pro3173Leu) rs772608027 0.00001
NM_001013703.4(EIF2AK4):c.3307C>T (p.Leu1103=) rs778131744 0.00001
NM_001013703.4(EIF2AK4):c.4806T>G (p.Thr1602=) rs1268708595 0.00001
NM_001013703.4(EIF2AK4):c.4892+12C>T rs371027516 0.00001
NM_001033855.3(DCLRE1C):c.537+14G>A rs546891508 0.00001
NM_001035.3(RYR2):c.1203T>C (p.Asp401=) rs1196750903 0.00001
NM_001035.3(RYR2):c.3808-17G>A rs374061574 0.00001
NM_001035.3(RYR2):c.8129+20C>A rs755080362 0.00001
NM_001040151.2(SCN3B):c.6T>C (p.Pro2=) rs769826959 0.00001
NM_001042492.3(NF1):c.3390G>A (p.Arg1130=) rs999720392 0.00001
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val) rs565708398 0.00001
NM_001042631.3(SDHAF1):c.321A>C (p.Ala107=) rs1348216250 0.00001
NM_001048174.2(MUTYH):c.116-75C>T rs1481053395 0.00001
NM_001048174.2(MUTYH):c.705-20G>T rs1645059942 0.00001
NM_001065.4(TNFRSF1A):c.270C>T (p.Thr90=) rs200837112 0.00001
NM_001077620.3(PRCD):c.*151A>G rs993077289 0.00001
NM_001110556.2(FLNA):c.4945+8C>T rs1347132008 0.00001
NM_001110556.2(FLNA):c.5417-8C>T rs782765679 0.00001
NM_001114753.3(ENG):c.1686+76G>T rs992021844 0.00001
NM_001114753.3(ENG):c.1742-28C>T rs752832223 0.00001
NM_001127671.2(LIFR):c.2910A>G (p.Ala970=) rs1258728953 0.00001
NM_001130823.3(DNMT1):c.3456G>C (p.Leu1152=) rs897612567 0.00001
NM_001134363.3(RBM20):c.2331T>C (p.Asp777=) rs1428730678 0.00001
NM_001142864.4(PIEZO1):c.-18G>A rs1264379107 0.00001
NM_001142864.4(PIEZO1):c.3399C>T (p.Asp1133=) rs763870469 0.00001
NM_001142864.4(PIEZO1):c.5433C>G (p.Asp1811Glu) rs1351344839 0.00001
NM_001142864.4(PIEZO1):c.5598G>C (p.Thr1866=) rs943633234 0.00001
NM_001142864.4(PIEZO1):c.5619T>C (p.Phe1873=) rs1433038327 0.00001
NM_001142864.4(PIEZO1):c.6333G>A (p.Leu2111=) rs897031749 0.00001
NM_001142864.4(PIEZO1):c.6750G>A (p.Gln2250=) rs1190241831 0.00001
NM_001148.6(ANK2):c.3045A>T (p.Ala1015=) rs1588357219 0.00001
NM_001199397.3(NEK1):c.3848-10T>G rs762040322 0.00001
NM_001199397.3(NEK1):c.777C>T (p.Ala259=) rs1325143287 0.00001
NM_001243133.2(NLRP3):c.2321+12T>A rs747043119 0.00001
NM_001243133.2(NLRP3):c.2811C>T (p.Pro937=) rs545121784 0.00001
NM_001243133.2(NLRP3):c.696C>A (p.Ile232=) rs746712429 0.00001
NM_001244008.2(KIF1A):c.3901+8C>T rs1461765194 0.00001
NM_001267550.2(TTN):c.101979C>T (p.Ser33993=) rs1429749651 0.00001
NM_001267550.2(TTN):c.11254+6T>C rs747639608 0.00001
NM_001267550.2(TTN):c.15318T>C (p.Ile5106=) rs537358981 0.00001
NM_001267550.2(TTN):c.15650G>A (p.Ser5217Asn) rs1479096219 0.00001
NM_001267550.2(TTN):c.19314C>T (p.Asn6438=) rs756954714 0.00001
NM_001267550.2(TTN):c.3963+8A>G rs746377261 0.00001
NM_001267550.2(TTN):c.44281+14A>G rs745533972 0.00001
NM_001267550.2(TTN):c.48081T>C (p.Arg16027=) rs754088360 0.00001
NM_001267550.2(TTN):c.52386T>C (p.Leu17462=) rs369139618 0.00001
NM_001267550.2(TTN):c.68352A>G (p.Glu22784=) rs772087782 0.00001
NM_001267550.2(TTN):c.70455C>T (p.Ala23485=) rs759693169 0.00001
NM_001267550.2(TTN):c.74562C>T (p.Thr24854=) rs767193647 0.00001
NM_001267550.2(TTN):c.77166T>C (p.Pro25722=) rs757252494 0.00001
NM_001267550.2(TTN):c.78270C>T (p.Asp26090=) rs1048653371 0.00001
NM_001267550.2(TTN):c.88194T>G (p.Ser29398=) rs1701745219 0.00001
NM_001267550.2(TTN):c.89379A>G (p.Thr29793=) rs767935383 0.00001
NM_001270508.2(TNFAIP3):c.1710C>T (p.Leu570=) rs542739083 0.00001
NM_001322934.2(NFKB2):c.2302C>T (p.Leu768=) rs1554991897 0.00001
NM_001355436.2(SPTB):c.4305G>T (p.Leu1435=) rs577158996 0.00001
NM_001360.3(DHCR7):c.98+20T>A rs1017429578 0.00001
NM_001365536.1(SCN9A):c.1347T>C (p.Ser449=) rs201990547 0.00001
NM_001365536.1(SCN9A):c.2277A>G (p.Leu759=) rs201650761 0.00001
NM_001370259.2(MEN1):c.1404G>A (p.Glu468=) rs755734265 0.00001
NM_001370259.2(MEN1):c.1608G>A (p.Gln536=) rs1055457298 0.00001
NM_001370298.3(FGD4):c.1404+5T>C rs373712001 0.00001
NM_001370466.1(NOD2):c.1428G>A (p.Glu476=) rs104895434 0.00001
NM_001370466.1(NOD2):c.1563G>A (p.Leu521=) rs369085294 0.00001
NM_001370466.1(NOD2):c.2304G>C (p.Leu768=) rs1164125645 0.00001
NM_001375808.2(LPIN2):c.2443-4G>A rs374426227 0.00001
NM_001376.5(DYNC1H1):c.6249A>G (p.Gln2083=) rs754533185 0.00001
NM_001377.3(DYNC2H1):c.8361A>C (p.Ser2787=) rs768132660 0.00001
NM_001384140.1(PCDH15):c.2001G>C (p.Thr667=) rs200699443 0.00001
NM_001384474.1(LOXHD1):c.141G>T (p.Val47=) rs749402939 0.00001
NM_001386125.1(OBSCN):c.16314T>G (p.Thr5438=) rs1558320744 0.00001
NM_001386125.1(OBSCN):c.9172G>A (p.Ala3058Thr) rs1433965473 0.00001
NM_001395413.1(POR):c.1173G>A (p.Gln391=) rs1220024534 0.00001
NM_001395413.1(POR):c.1390-9T>G rs1554559045 0.00001
NM_001395413.1(POR):c.1968G>A (p.Ala656=) rs782446980 0.00001
NM_001395413.1(POR):c.2013C>T (p.Tyr671=) rs1554559514 0.00001
NM_001457.4(FLNB):c.6078C>T (p.Asp2026=) rs762010386 0.00001
NM_001458.5(FLNC):c.4023A>T (p.Arg1341=) rs751884031 0.00001
NM_001458.5(FLNC):c.7749C>T (p.Ile2583=) rs781217114 0.00001
NM_001567.4(INPPL1):c.465G>A (p.Gly155=) rs760197203 0.00001
NM_001605.3(AARS1):c.1398C>T (p.Asp466=) rs770132954 0.00001
NM_001613.4(ACTA2):c.963C>T (p.Ala321=) rs1845777292 0.00001
NM_001844.5(COL2A1):c.3435+19G>A rs41272759 0.00001
NM_001844.5(COL2A1):c.4326C>T (p.Thr1442=) rs201223454 0.00001
NM_001903.5(CTNNA1):c.1965C>T (p.Ser655=) rs760486358 0.00001
NM_001999.4(FBN2):c.1431G>A (p.Gly477=) rs759633050 0.00001
NM_001999.4(FBN2):c.1604-5C>T rs530806742 0.00001
NM_001999.4(FBN2):c.2042G>A (p.Arg681His) rs548605398 0.00001
NM_001999.4(FBN2):c.2428+9T>C rs368374358 0.00001
NM_001999.4(FBN2):c.2554+18C>T rs778973357 0.00001
NM_001999.4(FBN2):c.4134C>T (p.Cys1378=) rs775405425 0.00001
NM_001999.4(FBN2):c.5354-14T>C rs756825167 0.00001
NM_001999.4(FBN2):c.573C>T (p.Ile191=) rs370698125 0.00001
NM_001999.4(FBN2):c.7308A>T (p.Ile2436=) rs1005611432 0.00001
NM_002047.4(GARS1):c.766G>C (p.Asp256His) rs201399681 0.00001
NM_002317.7(LOX):c.878+17C>G rs762609416 0.00001
NM_002439.5(MSH3):c.792+3A>G rs1245725634 0.00001
NM_002454.3(MTRR):c.1952+14G>A rs557018438 0.00001
NM_002471.4(MYH6):c.5472G>A (p.Leu1824=) rs1890959581 0.00001
NM_002471.4(MYH6):c.5553G>A (p.Glu1851=) rs763313787 0.00001
NM_002472.3(MYH8):c.3346-8A>G rs770228589 0.00001
NM_002474.3(MYH11):c.2412-4C>T rs750313377 0.00001
NM_002474.3(MYH11):c.2997+10G>T rs886051760 0.00001
NM_002474.3(MYH11):c.3294-10del rs756946356 0.00001
NM_002474.3(MYH11):c.768C>T (p.Ile256=) rs756118392 0.00001
NM_002506.3(NGF):c.600T>C (p.Tyr200=) rs774626005 0.00001
NM_002700.3(POU4F3):c.171C>G (p.Ala57=) rs781289197 0.00001
NM_002769.5(PRSS1):c.200+8T>C rs886038518 0.00001
NM_002769.5(PRSS1):c.201-37G>T rs774875799 0.00001
NM_002769.5(PRSS1):c.561C>T (p.Gly187=) rs1804561 0.00001
NM_002769.5(PRSS1):c.93G>A (p.Glu31=) rs745623963 0.00001
NM_002834.5(PTPN11):c.1620C>T (p.His540=) rs587781132 0.00001
NM_002890.3(RASA1):c.1348C>T (p.Leu450Phe) rs757166432 0.00001
NM_002890.3(RASA1):c.2149A>G (p.Ile717Val) rs972697183 0.00001
NM_002890.3(RASA1):c.2307G>A (p.Leu769=) rs780065565 0.00001
NM_002972.4(SBF1):c.3462G>T (p.Pro1154=) rs371815025 0.00001
NM_002972.4(SBF1):c.4437G>A (p.Val1479=) rs1381685044 0.00001
NM_003000.3(SDHB):c.287-4T>C rs200419171 0.00001
NM_003000.3(SDHB):c.696C>T (p.Ala232=) rs779143585 0.00001
NM_003001.5(SDHC):c.9G>A (p.Ala3=) rs749265569 0.00001
NM_003036.4(SKI):c.1152C>T (p.Pro384=) rs200160702 0.00001
NM_003036.4(SKI):c.1317C>T (p.Val439=) rs1446526482 0.00001
NM_003072.5(SMARCA4):c.3846C>T (p.Asn1282=) rs776413354 0.00001
NM_003126.4(SPTA1):c.3570-11T>C rs551180246 0.00001
NM_003238.6(TGFB2):c.1086+20G>C rs201814950 0.00001
NM_003242.6(TGFBR2):c.6T>C (p.Gly2=) rs758864131 0.00001
NM_003476.5(CSRP3):c.48C>T (p.Thr16=) rs753120437 0.00001
NM_003482.4(KMT2D):c.10410G>T (p.Leu3470=) rs747438612 0.00001
NM_003482.4(KMT2D):c.11949T>G (p.Thr3983=) rs199578328 0.00001
NM_003640.5(ELP1):c.2778A>G (p.Lys926=) rs751179612 0.00001
NM_003978.5(PSTPIP1):c.123G>A (p.Glu41=) rs766141606 0.00001
NM_003978.5(PSTPIP1):c.384G>A (p.Lys128=) rs868533109 0.00001
NM_003978.5(PSTPIP1):c.929+18G>A rs773172907 0.00001
NM_004004.6(GJB2):c.435C>T (p.Ile145=) rs1210470150 0.00001
NM_004006.3(DMD):c.7543-19G>A rs398124048 0.00001
NM_004006.3(DMD):c.8508C>T (p.Gly2836=) rs374374549 0.00001
NM_004082.5(DCTN1):c.2679C>T (p.Cys893=) rs1253918840 0.00001
NM_004082.5(DCTN1):c.42C>T (p.Ser14=) rs535554555 0.00001
NM_004100.5(EYA4):c.1839+18A>G rs1305220868 0.00001
NM_004100.5(EYA4):c.888G>A (p.Ser296=) rs768010410 0.00001
NM_004239.4(TRIP11):c.969T>G (p.Ser323=) rs768358054 0.00001
NM_004360.5(CDH1):c.2073C>T (p.Ala691=) rs536104508 0.00001
NM_004360.5(CDH1):c.2165-20T>C rs1555517631 0.00001
NM_004360.5(CDH1):c.2542C>T (p.Leu848=) rs1567517746 0.00001
NM_004415.4(DSP):c.1065G>A (p.Gln355=) rs750289780 0.00001
NM_004655.4(AXIN2):c.2405+7G>A rs373593841 0.00001
NM_004656.4(BAP1):c.1134G>A (p.Ala378=) rs371493799 0.00001
NM_004984.4(KIF5A):c.1077G>A (p.Thr359=) rs552427920 0.00001
NM_004990.4(MARS1):c.2094G>A (p.Lys698=) rs1202869298 0.00001
NM_005334.3(HCFC1):c.3943A>C (p.Arg1315=) rs782766895 0.00001
NM_005359.6(SMAD4):c.276T>C (p.His92=) rs762501162 0.00001
NM_005359.6(SMAD4):c.325C>T (p.Leu109=) rs1248541873 0.00001
NM_005359.6(SMAD4):c.525A>G (p.Glu175=) rs368528856 0.00001
NM_005359.6(SMAD4):c.693C>T (p.Gly231=) rs765597059 0.00001
NM_005518.4(HMGCS2):c.633C>T (p.Ala211=) rs370124069 0.00001
NM_005529.7(HSPG2):c.11988G>A (p.Gly3996=) rs749833238 0.00001
NM_005529.7(HSPG2):c.1296C>T (p.Gly432=) rs776288943 0.00001
NM_005529.7(HSPG2):c.1654+10C>T rs200578340 0.00001
NM_005529.7(HSPG2):c.1654+14C>T rs376821721 0.00001
NM_005529.7(HSPG2):c.2448C>T (p.Cys816=) rs752512173 0.00001
NM_005529.7(HSPG2):c.4644C>T (p.Tyr1548=) rs1484348962 0.00001
NM_005529.7(HSPG2):c.8544C>T (p.Cys2848=) rs369778477 0.00001
NM_005529.7(HSPG2):c.8911-20T>A rs1287002126 0.00001
NM_005529.7(HSPG2):c.9234C>T (p.Ile3078=) rs745391539 0.00001
NM_005751.5(AKAP9):c.6996A>G (p.Glu2332=) rs1315064294 0.00001
NM_005902.4(SMAD3):c.206+11G>T rs763321881 0.00001
NM_005902.4(SMAD3):c.658+15G>C rs1296574345 0.00001
NM_006031.6(PCNT):c.1335A>G (p.Lys445=) rs771882821 0.00001
NM_006031.6(PCNT):c.3030G>A (p.Thr1010=) rs752831769 0.00001
NM_006031.6(PCNT):c.5975C>T (p.Pro1992Leu) rs758977418 0.00001
NM_006031.6(PCNT):c.7104T>C (p.Pro2368=) rs576187743 0.00001
NM_006096.4(NDRG1):c.591G>A (p.Gly197=) rs377257830 0.00001
NM_006096.4(NDRG1):c.699-16C>G rs567104964 0.00001
NM_006269.2(RP1):c.2511A>G (p.Gln837=) rs753558619 0.00001
NM_006269.2(RP1):c.615+19C>T rs374595990 0.00001
NM_006371.5(CRTAP):c.249C>T (p.Phe83=) rs781058476 0.00001
NM_006445.4(PRPF8):c.1099-8T>C rs200865270 0.00001
NM_006446.5(SLCO1B1):c.1812C>T (p.Thr604=) rs779508352 0.00001
NM_006446.5(SLCO1B1):c.79T>C (p.Leu27=) rs190581845 0.00001
NM_006736.6(DNAJB2):c.446-17C>G rs760786001 0.00001
NM_006767.4(LZTR1):c.1260+13T>C rs773200225 0.00001
NM_006767.4(LZTR1):c.2325+13C>G rs768520949 0.00001
NM_006892.4(DNMT3B):c.2421-4C>T rs766802588 0.00001
NM_007272.3(CTRC):c.230+7G>A rs754126755 0.00001
NM_007272.3(CTRC):c.40+18G>A rs1708076823 0.00001
NM_007272.3(CTRC):c.462C>T (p.Pro154=) rs776457510 0.00001
NM_007272.3(CTRC):c.474C>T (p.Thr158=) rs759334187 0.00001
NM_007272.3(CTRC):c.493+38G>A rs1488630264 0.00001
NM_007272.3(CTRC):c.639+45A>G rs776164776 0.00001
NM_007294.4(BRCA1):c.1704T>G (p.Pro568=) rs587780795 0.00001
NM_007294.4(BRCA1):c.2207A>C (p.Glu736Ala) rs397507196 0.00001
NM_007294.4(BRCA1):c.3327A>C (p.Lys1109Asn) rs41293449 0.00001
NM_007294.4(BRCA1):c.3541G>A (p.Val1181Ile) rs56336919 0.00001
NM_007294.4(BRCA1):c.3909G>A (p.Leu1303=) rs1597860507 0.00001
NM_007294.4(BRCA1):c.4097-10G>A rs80358057 0.00001
NM_007294.4(BRCA1):c.4204C>T (p.His1402Tyr) rs80357365 0.00001
NM_007294.4(BRCA1):c.4332T>C (p.Asn1444=) rs752824502 0.00001
NM_007294.4(BRCA1):c.4358-37G>A rs546408259 0.00001
NM_007294.4(BRCA1):c.4485-8C>T rs397507234 0.00001
NM_007294.4(BRCA1):c.4635C>T (p.His1545=) rs373686790 0.00001
NM_007294.4(BRCA1):c.5152+10A>G rs80358114 0.00001
NM_007294.4(BRCA1):c.5382G>C (p.Glu1794Asp) rs397509275 0.00001
NM_007294.4(BRCA1):c.5406+17C>T rs1057522773 0.00001
NM_007294.4(BRCA1):c.5456A>G (p.Asn1819Ser) rs80357286 0.00001
NM_007294.4(BRCA1):c.548-18T>G rs397507251 0.00001
NM_007294.4(BRCA1):c.593+9A>G rs80358133 0.00001
NM_007294.4(BRCA1):c.825C>T (p.Gly275=) rs397509328 0.00001
NM_007373.4(SHOC2):c.303T>C (p.Asn101=) rs750568201 0.00001
NM_012073.5(CCT5):c.1005C>T (p.Ile335=) rs1282889055 0.00001
NM_012452.3(TNFRSF13B):c.633T>C (p.Asp211=) rs199592890 0.00001
NM_014000.3(VCL):c.2490G>A (p.Lys830=) rs1158015710 0.00001
NM_014391.3(ANKRD1):c.678G>A (p.Ala226=) rs376432423 0.00001
NM_015046.7(SETX):c.5901A>G (p.Thr1967=) rs780717865 0.00001
NM_015271.5(TRIM2):c.1518A>G (p.Lys506=) rs773419235 0.00001
NM_015512.5(DNAH1):c.6795C>T (p.Thr2265=) rs367699532 0.00001
NM_016156.6(MTMR2):c.213A>G (p.Ala71=) rs1402885565 0.00001
NM_016203.4(PRKAG2):c.186+12T>C rs374155169 0.00001
NM_016204.4(GDF2):c.714C>T (p.Asp238=) rs782288867 0.00001
NM_016938.5(EFEMP2):c.231C>T (p.Gly77=) rs928050535 0.00001
NM_017617.5(NOTCH1):c.7590C>T (p.Ser2530=) rs371067732 0.00001
NM_017668.3(NDE1):c.948-39G>A rs571613839 0.00001
NM_018706.7(DHTKD1):c.387G>A (p.Gln129=) rs1832871596 0.00001
NM_018979.4(WNK1):c.6021A>G (p.Leu2007=) rs1466331283 0.00001
NM_019075.4(UGT1A10):c.855+45435G>A rs1274355899 0.00001
NM_020297.4(ABCC9):c.306C>T (p.Leu102=) rs994917919 0.00001
NM_020297.4(ABCC9):c.4103-15del rs752897619 0.00001
NM_020366.4(RPGRIP1):c.1965C>T (p.Thr655=) rs781676562 0.00001
NM_020366.4(RPGRIP1):c.708G>A (p.Glu236=) rs770273789 0.00001
NM_020433.5(JPH2):c.837C>T (p.Phe279=) rs773521151 0.00001
NM_020631.6(PLEKHG5):c.510G>A (p.Pro170=) rs773624292 0.00001
NM_020800.3(IFT80):c.440-12T>G rs748442129 0.00001
NM_020975.6(RET):c.1890C>T (p.Cys630=) rs781145070 0.00001
NM_020975.6(RET):c.918A>G (p.Ala306=) rs1060504034 0.00001
NM_021625.5(TRPV4):c.1002C>T (p.Asn334=) rs1034780415 0.00001
NM_021815.5(SLC5A7):c.1362G>A (p.Leu454=) rs561099749 0.00001
NM_022356.4(P3H1):c.1086C>T (p.Ala362=) rs777090883 0.00001
NM_022489.4(INF2):c.2490-15C>A rs775068618 0.00001
NM_022489.4(INF2):c.654G>T (p.Arg218=) rs745354738 0.00001
NM_022489.4(INF2):c.720C>T (p.Asp240=) rs1243280313 0.00001
NM_023110.3(FGFR1):c.1978-16C>T rs764971696 0.00001
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg) rs756778249 0.00001
NM_024675.4(PALB2):c.1792C>T (p.Leu598=) rs746702349 0.00001
NM_024675.4(PALB2):c.2438T>C (p.Ile813Thr) rs763191051 0.00001
NM_024675.4(PALB2):c.3483T>C (p.Phe1161=) rs372686500 0.00001
NM_024753.5(TTC21B):c.843A>G (p.Glu281=) rs201311475 0.00001
NM_030777.4(SLC2A10):c.180C>T (p.Leu60=) rs371988251 0.00001
NM_030962.4(SBF2):c.1893C>T (p.Ala631=) rs760154688 0.00001
NM_030962.4(SBF2):c.3976A>C (p.Arg1326=) rs928249984 0.00001
NM_030962.4(SBF2):c.4416C>T (p.Phe1472=) rs1347990916 0.00001
NM_030973.4(MED25):c.1230+7G>T rs1412475364 0.00001
NM_030973.4(MED25):c.1899C>T (p.Pro633=) rs1225715903 0.00001
NM_031443.4(CCM2):c.1290C>T (p.Ser430=) rs778959221 0.00001
NM_032119.4(ADGRV1):c.15285T>C (p.Thr5095=) rs745990374 0.00001
NM_032578.4(MYPN):c.1245+19A>G rs773859141 0.00001
NM_053025.4(MYLK):c.1314C>T (p.Ser438=) rs200423954 0.00001
NM_053025.4(MYLK):c.2388C>T (p.Leu796=) rs193007255 0.00001
NM_053025.4(MYLK):c.2853C>T (p.Val951=) rs769322491 0.00001
NM_053025.4(MYLK):c.3462C>T (p.Ser1154=) rs768346816 0.00001
NM_053025.4(MYLK):c.4392C>T (p.Tyr1464=) rs565217509 0.00001
NM_054012.4(ASS1):c.711C>T (p.Asn237=) rs779981831 0.00001
NM_138477.4(CDAN1):c.2869-4G>A rs749321986 0.00001
NM_138477.4(CDAN1):c.2937C>T (p.Ala979=) rs781767396 0.00001
NM_139276.3(STAT3):c.1601-8_1601-7insG rs1555564070 0.00001
NM_144596.4(TTC8):c.711-16A>C rs747396066 0.00001
NM_144687.4(NLRP12):c.1386C>T (p.Cys462=) rs1369275354 0.00001
NM_144687.4(NLRP12):c.289+14G>A rs777899039 0.00001
NM_144687.4(NLRP12):c.654G>A (p.Ala218=) rs745766441 0.00001
NM_144997.7(FLCN):c.1419A>C (p.Val473=) rs141036419 0.00001
NM_145691.4(ATPAF2):c.393C>T (p.Ala131=) rs202006856 0.00001
NM_147127.5(EVC2):c.451-7del rs1290670058 0.00001
NM_152281.3(GORAB):c.156G>T (p.Gly52=) rs190850168 0.00001
NM_153676.4(USH1C):c.1020-7G>A rs1554960567 0.00001
NM_153717.3(EVC):c.2782+13dup rs770549797 0.00001
NM_170707.4(LMNA):c.1157+19G>A rs757715731 0.00001
NM_174934.4(SCN4B):c.62-16G>A rs772762943 0.00001
NM_177438.3(DICER1):c.1758G>A (p.Leu586=) rs368558276 0.00001
NM_181882.3(PRX):c.1251G>T (p.Leu417=) rs751470543 0.00001
NM_181882.3(PRX):c.354G>A (p.Lys118=) rs1044654884 0.00001
NM_182961.4(SYNE1):c.12693A>G (p.Gln4231=) rs1266975368 0.00001
NM_182961.4(SYNE1):c.26106G>A (p.Lys8702=) rs765865910 0.00001
NM_182961.4(SYNE1):c.3087T>C (p.Asn1029=) rs770801617 0.00001
NM_194454.3(KRIT1):c.1041T>C (p.Asn347=) rs373275660 0.00001
NM_198253.3(TERT):c.2850C>G (p.Ala950=) rs758664162 0.00001
NM_201253.3(CRB1):c.1995T>C (p.Asn665=) rs774597710 0.00001
NM_201253.3(CRB1):c.4074C>T (p.Ile1358=) rs753097155 0.00001
NM_203486.3(DLL3):c.138G>A (p.Pro46=) rs987371248 0.00001
NC_000011.10:g.5225390C>A rs1589890997
NC_000011.10:g.5227294=
NC_000016.10:g.173755A>T rs2261869
NC_000016.10:g.177536T>G rs985858191
NM_000018.4(ACADVL):c.1434+14T>A rs202217537
NM_000018.4(ACADVL):c.1435-27T>A rs1281849589
NM_000018.4(ACADVL):c.1678+29T>C rs1023643662
NM_000018.4(ACADVL):c.62+10del rs1251002707
NM_000020.3(ACVRL1):c.*45del rs761647766
NM_000020.3(ACVRL1):c.1377+55T>C
NM_000020.3(ACVRL1):c.375C>T (p.Pro125=) rs148975811
NM_000022.4(ADA):c.607-7dup
NM_000037.4(ANK1):c.1207-6T>C
NM_000037.4(ANK1):c.1659G>A (p.Glu553=)
NM_000037.4(ANK1):c.2461+20C>T
NM_000037.4(ANK1):c.3115+18C>T
NM_000037.4(ANK1):c.3327+19G>T rs200871595
NM_000037.4(ANK1):c.3342G>A (p.Pro1114=) rs374102892
NM_000037.4(ANK1):c.3829G>A (p.Val1277Met) rs148942046
NM_000037.4(ANK1):c.3984+10C>T
NM_000037.4(ANK1):c.4391-18T>C
NM_000037.4(ANK1):c.4974C>T (p.Asp1658=) rs149859024
NM_000037.4(ANK1):c.5233G>A (p.Gly1745Ser)
NM_000038.6(APC):c.2651C>T (p.Ala884Val) rs750217875
NM_000038.6(APC):c.2739T>C (p.His913=) rs553363502
NM_000038.6(APC):c.3117A>C (p.Gly1039=) rs1580631098
NM_000038.6(APC):c.5839A>C (p.Thr1947Pro) rs746346292
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup) rs587780602
NM_000038.6(APC):c.6900T>C (p.Ser2300=) rs202012533
NM_000038.6(APC):c.7794C>G (p.Thr2598=) rs1554088662
NM_000051.4(ATM):c.1314A>C (p.Ile438=) rs770573462
NM_000051.4(ATM):c.2148C>G (p.Val716=) rs1800701
NM_000051.4(ATM):c.2838+9C>A rs370160823
NM_000051.4(ATM):c.5005+17C>T rs200688912
NM_000052.7(ATP7A):c.3295-6del rs1557237411
NM_000053.4(ATP7B):c.1707+17C>A
NM_000053.4(ATP7B):c.1707+18G>A
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=) rs746358240
NM_000053.4(ATP7B):c.3556+29TC[2] rs575346789
NM_000053.4(ATP7B):c.3615T>C (p.Ala1205=) rs755324767
NM_000053.4(ATP7B):c.51+14C>T rs1566687529
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs) rs276174803
NM_000059.4(BRCA2):c.1074G>T (p.Val358=) rs276174805
NM_000059.4(BRCA2):c.1166C>A (p.Pro389Gln) rs397507263
NM_000059.4(BRCA2):c.1254A>G (p.Ser418=) rs1052409595
NM_000059.4(BRCA2):c.1460C>A (p.Ala487Glu) rs56390402
NM_000059.4(BRCA2):c.1545T>G (p.Thr515=) rs786202158
NM_000059.4(BRCA2):c.1719T>C (p.Ala573=) rs1450934154
NM_000059.4(BRCA2):c.2820A>G (p.Gln940=) rs771061558
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del) rs80359406
NM_000059.4(BRCA2):c.4242G>A (p.Thr1414=) rs750495335
NM_000059.4(BRCA2):c.430GTT[1] (p.Val145del) rs80359442
NM_000059.4(BRCA2):c.4680C>T (p.Ser1560=) rs1593903115
NM_000059.4(BRCA2):c.475+16A>T rs863224308
NM_000059.4(BRCA2):c.48G>A (p.Lys16=)
NM_000059.4(BRCA2):c.5634C>T (p.Asn1878=) rs80358784
NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala) rs56191579
NM_000059.4(BRCA2):c.6841+8T>G rs2137531137
NM_000059.4(BRCA2):c.6938-25_6938-19del rs762815401
NM_000059.4(BRCA2):c.7242A>T (p.Ser2414=) rs1799955
NM_000059.4(BRCA2):c.7436-30T>G rs925773518
NM_000059.4(BRCA2):c.7569G>A (p.Leu2523=) rs786201620
NM_000059.4(BRCA2):c.7806-30T>A rs1555286796
NM_000059.4(BRCA2):c.7976+35C>T rs181176701
NM_000059.4(BRCA2):c.8633-16C>A rs81002818
NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser) rs80359165
NM_000059.4(BRCA2):c.9113_9115dup (p.Leu3038dup) rs80359749
NM_000059.4(BRCA2):c.9257-10dup rs276174919
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr) rs55939572
NM_000059.4(BRCA2):c.9606G>C (p.Pro3202=) rs755890067
NM_000071.3(CBS):c.1358+15C>G rs186497436
NM_000071.3(CBS):c.1368G>T (p.Leu456=) rs199941488
NM_000071.3(CBS):c.1500G>A (p.Ser500=) rs1057522901
NM_000071.3(CBS):c.183C>A (p.Ser61=) rs753906914
NM_000071.3(CBS):c.667-4G>A rs750338571
NM_000077.5(CDKN2A):c.369T>A (p.His123Gln) rs6413463
NM_000088.4(COL1A1):c.1077G>T (p.Gly359=)
NM_000088.4(COL1A1):c.1674C>A (p.Pro558=)
NM_000088.4(COL1A1):c.381C>T (p.Gly127=)
NM_000088.4(COL1A1):c.4056G>C (p.Leu1352=)
NM_000088.4(COL1A1):c.472-13_472-12del rs1210027118
NM_000088.4(COL1A1):c.805-14C>G
NM_000089.4(COL1A2):c.1665+81del rs140284827
NM_000089.4(COL1A2):c.2469T>A (p.Gly823=) rs1792200314
NM_000089.4(COL1A2):c.2766T>G (p.Gly922=) rs1792248803
NM_000089.4(COL1A2):c.81+11del rs193922174
NM_000090.4(COL3A1):c.1149+7A>G rs1688231707
NM_000090.4(COL3A1):c.1456-16C>G rs748670622
NM_000090.4(COL3A1):c.1566A>G (p.Gly522=) rs2153502556
NM_000090.4(COL3A1):c.2862A>T (p.Gly954=) rs1377418572
NM_000090.4(COL3A1):c.3222T>G (p.Gly1074=) rs1060503873
NM_000093.5(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_000093.5(COL5A1):c.1290C>T (p.Ile430=) rs572136244
NM_000093.5(COL5A1):c.1827+12G>A rs1251697175
NM_000093.5(COL5A1):c.1882-5del rs1554793544
NM_000093.5(COL5A1):c.1989+14C>T
NM_000093.5(COL5A1):c.2088+18C>G rs889625058
NM_000093.5(COL5A1):c.2262A>G (p.Gly754=) rs1836755970
NM_000093.5(COL5A1):c.2430+16C>T rs530385215
NM_000093.5(COL5A1):c.3260G>C (p.Gly1087Ala) rs559882772
NM_000093.5(COL5A1):c.3945C>T (p.Gly1315=)
NM_000093.5(COL5A1):c.4464C>A (p.Ile1488=) rs148669237
NM_000093.5(COL5A1):c.4650A>T (p.Pro1550=) rs778312075
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_000093.5(COL5A1):c.558G>A (p.Lys186=) rs1564397188
NM_000093.5(COL5A1):c.924+18G>C
NM_000095.3(COMP):c.2088-4T>C rs1601049644
NM_000095.3(COMP):c.437G>A (p.Ser146Asn) rs1311065591
NM_000095.3(COMP):c.79+102C>T rs978469885
NM_000112.4(SLC26A2):c.552C>G (p.Gly184=)
NM_000121.4(EPOR):c.957C>G (p.Pro319=)
NM_000132.4(F8):c.2961G>C (p.Glu987Asp)
NM_000132.4(F8):c.312C>A (p.Val104=)
NM_000138.5(FBN1):c.1588+10T>G rs761924614
NM_000138.5(FBN1):c.2952C>T (p.Val984=) rs374670384
NM_000138.5(FBN1):c.4863A>G (p.Lys1621=) rs2043314687
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000138.5(FBN1):c.6141C>T (p.Ser2047=) rs2141245369
NM_000138.5(FBN1):c.6219C>G (p.Pro2073=) rs771786623
NM_000138.5(FBN1):c.6832C>G (p.Pro2278Ala) rs363835
NM_000138.5(FBN1):c.7700-9C>G rs772261791
NM_000138.5(FBN1):c.8223C>G (p.Ile2741Met) rs150065311
NM_000138.5(FBN1):c.988+11T>G
NM_000141.5(FGFR2):c.2328C>T (p.Leu776=) rs148478597
NM_000141.5(FGFR2):c.543C>G (p.Ala181=) rs150598483
NM_000142.5(FGFR3):c.75G>A (p.Leu25=) rs762402180
NM_000142.5(FGFR3):c.912C>G (p.Pro304=) rs201012537
NM_000142.5(FGFR3):c.931-797G>A
NM_000152.5(GAA):c.858+6GCGGCGG[3] rs1555599723
NM_000155.4(GALT):c.291C>T (p.Asn97=) rs398123180
NM_000162.5(GCK):c.300C>T (p.Ser100=)
NM_000162.5(GCK):c.432G>T (p.Leu144=)
NM_000175.5(GPI):c.1063-13G>C
NM_000175.5(GPI):c.1143G>C (p.Gly381=) rs1214297048
NM_000175.5(GPI):c.487-14A>G
NM_000175.5(GPI):c.603C>G (p.Pro201=) rs1062480
NM_000175.5(GPI):c.751-5del rs375313737
NM_000178.4(GSS):c.1059G>A (p.Glu353=)
NM_000178.4(GSS):c.129+1688A>G rs7344898
NM_000178.4(GSS):c.129+9del rs768666515
NM_000178.4(GSS):c.1332C>T (p.His444=)
NM_000178.4(GSS):c.144C>G (p.Ala48=)
NM_000178.4(GSS):c.275+7del rs768555177
NM_000178.4(GSS):c.690-7T>C
NM_000179.3(MSH6):c.2161A>C (p.Arg721=) rs537604099
NM_000179.3(MSH6):c.2292T>C (p.Thr764=) rs1553413668
NM_000179.3(MSH6):c.261-14C>T rs369366445
NM_000179.3(MSH6):c.3162C>T (p.Ile1054=) rs149605979
NM_000179.3(MSH6):c.3173-18T>A rs189672273
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000183.3(HADHB):c.110-2353C>T
NM_000184.2(HBG2):c.199A>C (p.Lys67Gln) rs34264694
NM_000184.2(HBG2):c.49G>C (p.Gly17Arg) rs34907654
NM_000184.3(HBG2):c.135C>G (p.Ser45Arg)
NM_000188.3(HK1):c.1266-10C>T rs2132884007
NM_000188.3(HK1):c.1571-9C>T rs1435466049
NM_000188.3(HK1):c.2370C>T (p.Ile790=) rs150711083
NM_000209.4(PDX1):c.825G>C (p.Ala275=)
NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000231.3(SGCG):c.505+15G>T rs144143366
NM_000238.4(KCNH2):c.2398+105del rs546898924
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1]) rs551056698
NM_000238.4(KCNH2):c.77-5C>G rs72549419
NM_000243.3(MEFV):c.1092G>A (p.Pro364=) rs11466022
NM_000243.3(MEFV):c.1092G>T (p.Pro364=) rs11466022
NM_000243.3(MEFV):c.1260+17T>C rs1357578983
NM_000243.3(MEFV):c.1417C>T (p.Leu473=)
NM_000243.3(MEFV):c.1461G>T (p.Val487=) rs1370559441
NM_000243.3(MEFV):c.1536G>A (p.Leu512=)
NM_000243.3(MEFV):c.1588-12T>A
NM_000243.3(MEFV):c.1759+11C>T rs370349451
NM_000243.3(MEFV):c.2271C>T (p.Ser757=) rs772754956
NM_000243.3(MEFV):c.342G>A (p.Lys114=) rs981883034
NM_000243.3(MEFV):c.414A>T (p.Gly138=) rs224224
NM_000243.3(MEFV):c.564C>T (p.Pro188=) rs775755423
NM_000249.4(MLH1):c.1732-19T>C rs77120160
NM_000249.4(MLH1):c.1897-18C>A rs1553663682
NM_000249.4(MLH1):c.2088C>G (p.Thr696=) rs1060504015
NM_000249.4(MLH1):c.678-14C>T
NM_000249.4(MLH1):c.790+10A>C rs182733777
NM_000249.4(MLH1):c.85G>T (p.Ala29Ser) rs63750656
NM_000251.3(MSH2):c.1387-14_1387-11del rs370436680
NM_000251.3(MSH2):c.1511-16C>T rs768540784
NM_000251.3(MSH2):c.1746C>T (p.Val582=) rs786201486
NM_000251.3(MSH2):c.1760-7del rs754968844
NM_000251.3(MSH2):c.849T>C (p.Asp283=) rs876659344
NM_000251.3(MSH2):c.942+21_942+29del rs11309117
NM_000256.3(MYBPC3):c.3815-14C>T rs1003286810
NM_000257.4(MYH7):c.2118G>A (p.Arg706=) rs3181426
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) rs141764279
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000264.5(PTCH1):c.113G>T (p.Gly38Val) rs143494325
NM_000264.5(PTCH1):c.3804+28G>A rs200724772
NM_000288.4(PEX7):c.408T>G (p.Thr136=) rs776675774
NM_000289.6(PFKM):c.1338_1339delinsAA (p.Gln447Lys) rs1555206566
NM_000289.6(PFKM):c.150T>C (p.Phe50=)
NM_000291.4(PGK1):c.1152C>T (p.Asn384=)
NM_000291.4(PGK1):c.417+13A>T
NM_000291.4(PGK1):c.937-17dup rs782576397
NM_000298.6(PKLR):c.376-11C>G rs1647538523
NM_000298.6(PKLR):c.966-7C>T
NM_000302.4(PLOD1):c.1903-14dup rs748794198
NM_000302.4(PLOD1):c.77-3320G>C rs2100738654
NM_000302.4(PLOD1):c.77-3351T>C rs1397591568
NM_000304.4(PMP22):c.79-23del
NM_000311.3(PRNP):c.204_227del24 (p.Pro84_Gln91del) rs193922906
NM_000314.8(PTEN):c.254-62A>C rs1052364593
NM_000314.8(PTEN):c.396T>C (p.Gly132=) rs1564830257
NM_000314.8(PTEN):c.79+33_79+36del rs1465716096
NM_000316.3(PTH1R):c.1116+7del
NM_000316.3(PTH1R):c.1320G>A (p.Gln440=) rs1575526100
NM_000321.3(RB1):c.2460A>G (p.Pro820=) rs1555294628
NM_000322.5(PRPH2):c.483C>G (p.Ile161Met) rs76989855
NM_000342.4(SLC4A1):c.1446C>T (p.Asn482=)
NM_000342.4(SLC4A1):c.1627-3C>T
NM_000342.4(SLC4A1):c.1891-7C>T
NM_000342.4(SLC4A1):c.1899G>A (p.Ser633=)
NM_000342.4(SLC4A1):c.2298C>A (p.Val766=) rs767295098
NM_000342.4(SLC4A1):c.291G>A (p.Pro97=)
NM_000342.4(SLC4A1):c.765G>C (p.Ala255=) rs144835638
NM_000342.4(SLC4A1):c.92T>C (p.Met31Thr) rs55773290
NM_000346.4(SOX9):c.1023GCC[4] (p.Pro346dup) rs776337541
NM_000346.4(SOX9):c.715A>C (p.Thr239Pro) rs1275128261
NM_000350.3(ABCA4):c.4458A>T (p.Pro1486=) rs754181190
NM_000352.6(ABCC8):c.2041-12C>T rs201419039
NM_000352.6(ABCC8):c.2695-20G>A
NM_000352.6(ABCC8):c.3329+11C>T
NM_000355.4(TCN2):c.495T>C (p.Cys165=) rs1569040542
NM_000355.4(TCN2):c.581-8A>G rs7290898
NM_000365.6(TPI1):c.457+7C>G
NM_000368.5(TSC1):c.-80-10T>C rs886063625
NM_000371.4(TTR):c.120C>T (p.Val40=)
NM_000371.4(TTR):c.201-27C>A rs1315540051
NM_000371.4(TTR):c.9T>C (p.Ser3=) rs1598843600
NM_000384.3(APOB):c.11761G>A (p.Val3921Ile)
NM_000384.3(APOB):c.12382G>A (p.Val4128Met)
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
NM_000384.3(APOB):c.1618-13del rs2103375691
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu)
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
NM_000384.3(APOB):c.49CTG[8] (p.Leu21_Leu22dup) rs745520533
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del) rs541497967
NM_000384.3(APOB):c.904+20T>A rs2103381847
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
NM_000393.5(COL5A2):c.1404T>C (p.Gly468=) rs1686161677
NM_000393.5(COL5A2):c.2867G>A (p.Arg956Gln)
NM_000393.5(COL5A2):c.3309+6G>T rs775681859
NM_000393.5(COL5A2):c.3309+7A>G rs1553513652
NM_000393.5(COL5A2):c.3348G>A (p.Gly1116=) rs1553513577
NM_000393.5(COL5A2):c.4114-18_4114-17del rs1440458273
NM_000393.5(COL5A2):c.4200C>T (p.Asn1400=) rs979486002
NM_000393.5(COL5A2):c.744+19T>C
NM_000393.5(COL5A2):c.961-3del rs542134887
NM_000398.7(CYB5R3):c.21+4921G>C
NM_000398.7(CYB5R3):c.548-17G>A
NM_000414.4(HSD17B4):c.666C>T (p.Val222=) rs150677536
NM_000431.4(MVK):c.450G>C (p.Ser150=) rs201123232
NM_000435.3(NOTCH3):c.1493-13C>T rs981235130
NM_000435.3(NOTCH3):c.1607-14T>C
NM_000435.3(NOTCH3):c.197+8C>T
NM_000435.3(NOTCH3):c.2739G>A (p.Pro913=) rs763718957
NM_000435.3(NOTCH3):c.4736+23G>C rs1599374263
NM_000435.3(NOTCH3):c.867T>C (p.Gly289=)
NM_000440.3(PDE6A):c.2242C>T (p.Leu748=) rs963290822
NM_000441.2(SLC26A4):c.39C>A (p.Leu13=) rs1562817215
NM_000458.4(HNF1B):c.1535-15A>T
NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys)
NM_000459.5(TEK):c.2880T>C (p.Phe960=) rs1554701677
NM_000463.3(UGT1A1):c.1491C>T (p.Ala497=)
NM_000463.3(UGT1A1):c.57G>A (p.Val19=)
NM_000463.3(UGT1A1):c.741A>G (p.Leu247=)
NM_000465.4(BARD1):c.117C>T (p.Ala39=) rs786202271
NM_000476.3(AK1):c.153G>A (p.Ser51=)
NM_000476.3(AK1):c.516+11C>T rs115263629
NM_000476.3(AK1):c.522C>T (p.Asn174=) rs150064330
NM_000476.3(AK1):c.8-321C>T
NM_000478.6(ALPL):c.1190-15C>A rs1644739262
NM_000478.6(ALPL):c.534C>T (p.Tyr178=) rs201250289
NM_000484.4(APP):c.355+11C>T
NM_000484.4(APP):c.865+9C>T
NM_000492.4(CFTR):c.-9C>T rs1189053240
NM_000492.4(CFTR):c.1116+32T>C rs138990074
NM_000492.4(CFTR):c.1116+35T>C rs1584789546
NM_000492.4(CFTR):c.1210-3C>T
NM_000492.4(CFTR):c.1210-6T>A rs763339686
NM_000492.4(CFTR):c.1392+15C>G
NM_000492.4(CFTR):c.1467A>G (p.Ser489=) rs1799419729
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.4(CFTR):c.1767-9A>G rs1223678085
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.4(CFTR):c.3368-30G>C rs1584824127
NM_000492.4(CFTR):c.3718-15A>C
NM_000492.4(CFTR):c.3874-27TTC[2] rs397508623
NM_000492.4(CFTR):c.744-33GATT[5] rs1805171
NM_000492.4(CFTR):c.744-34_744-31del rs768226435
NM_000492.4(CFTR):c.960A>G (p.Leu320=) rs56093012
NM_000517.4(HBA2):c.49A>G (p.Lys17Glu) rs281865555
NM_000517.5(HBA2):c.-41C>G rs1188584832
NM_000517.6(HBA2):c.*25C>T rs1462495649
NM_000517.6(HBA2):c.*8C>T
NM_000517.6(HBA2):c.148A>C (p.Ser50Arg) rs1596569718
NM_000517.6(HBA2):c.151C>G (p.His51Asp) rs41461652
NM_000517.6(HBA2):c.154G>C (p.Gly52Arg) rs281864837
NM_000517.6(HBA2):c.164A>G (p.Gln55Arg) rs281864839
NM_000517.6(HBA2):c.215C>A (p.Ala72Glu) rs281864853
NM_000517.6(HBA2):c.222G>T (p.Val74=) rs2142018022
NM_000517.6(HBA2):c.226G>A (p.Asp76Asn) rs281864858
NM_000517.6(HBA2):c.22A>G (p.Lys8Glu) rs34817956
NM_000517.6(HBA2):c.257A>T (p.Asp86Val) rs41331747
NM_000517.6(HBA2):c.266C>G (p.Ala89Gly) rs33983416
NM_000517.6(HBA2):c.271A>G (p.Lys91Glu) rs63750093
NM_000517.6(HBA2):c.273G>C (p.Lys91Asn)
NM_000517.6(HBA2):c.273G>T (p.Lys91Asn)
NM_000517.6(HBA2):c.300G>T (p.Lys100Asn) rs281864555
NM_000517.6(HBA2):c.309C>A (p.Ser103Arg) rs41344646
NM_000517.6(HBA2):c.344C>T (p.Pro115Leu) rs267607269
NM_000517.6(HBA2):c.349G>A (p.Glu117Lys) rs33987053
NM_000517.6(HBA2):c.383A>C (p.Lys128Thr) rs35431217
NM_000517.6(HBA2):c.38C>A (p.Ala13Asp) rs281864809
NM_000517.6(HBA2):c.402C>T (p.Ser134=) rs41514946
NM_000517.6(HBA2):c.40G>C (p.Ala14Pro) rs281860609
NM_000517.6(HBA2):c.45G>C (p.Trp15Cys) rs63750367
NM_000517.6(HBA2):c.55G>C (p.Gly19Arg) rs63750294
NM_000517.6(HBA2):c.8T>G (p.Leu3Arg)
NM_000517.6(HBA2):c.95+11_95+34del rs1445188229
NM_000517.6(HBA2):c.96-5C>T
NM_000518.4(HBB):c.142G>A (p.Asp48Asn) rs33932070
NM_000518.4(HBB):c.232C>G (p.His78Asp) rs33991294
NM_000518.4(HBB):c.238G>T (p.Asp80Tyr) rs33990858
NM_000518.4(HBB):c.29C>G (p.Ser10Cys) rs33918131
NM_000518.4(HBB):c.67G>C (p.Glu23Gln) rs33959855
NM_000518.4(HBB):c.68A>G (p.Glu23Gly) rs33936254
NM_000518.4(HBB):c.8A>G (p.His3Arg) rs33983205
NM_000518.5(HBB):c.*56A>G rs537944366
NM_000518.5(HBB):c.10C>G (p.Leu4Val) rs34126315
NM_000518.5(HBB):c.140G>A (p.Gly47Glu) rs35303218
NM_000518.5(HBB):c.16C>G (p.Pro6Ala) rs33912272
NM_000518.5(HBB):c.186G>C (p.Lys62Asn) rs34446260
NM_000518.5(HBB):c.251G>A (p.Gly84Asp) rs1803195
NM_000518.5(HBB):c.314G>C (p.Arg105Thr) rs33911434
NM_000518.5(HBB):c.315+10T>G rs2133587695
NM_000518.5(HBB):c.316-198G>A rs547258651
NM_000518.5(HBB):c.334G>C (p.Val112Leu) rs33957964
NM_000518.5(HBB):c.394C>A (p.Gln132Lys) rs33910209
NM_000518.5(HBB):c.394C>G (p.Gln132Glu) rs33910209
NM_000518.5(HBB):c.397A>C (p.Lys133Gln) rs33953406
NM_000518.5(HBB):c.402G>C (p.Val134=) rs113082294
NM_000518.5(HBB):c.420T>A (p.Asn140Lys) rs34240441
NM_000518.5(HBB):c.5T>C (p.Val2Ala) rs33949930
NM_000518.5(HBB):c.60C>A (p.Asn20Lys) rs63750840
NM_000518.5(HBB):c.84C>T (p.Ala28=) rs748296717
NM_000518.5(HBB):c.9T>A (p.His3Gln) rs713040
NM_000520.6(HEXA):c.1330+20C>T
NM_000527.5(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000535.7(PMS2):c.1185C>T (p.Pro395=) rs1562636721
NM_000535.7(PMS2):c.2276-19C>A
NM_000545.8(HNF1A):c.1624-39C>G
NM_000546.6(TP53):c.558T>C (p.Asp186=) rs375275361
NM_000548.5(TSC2):c.3611-11C>T rs375617364
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg) rs587778732
NM_000548.5(TSC2):c.4780C>T (p.Leu1594=) rs45511204
NM_000548.5(TSC2):c.482-20T>A rs548831116
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg) rs45514196
NM_000548.5(TSC2):c.5094C>T (p.Ser1698=) rs45514196
NM_000548.5(TSC2):c.975+15G>T rs753334357
NM_000552.5(VWF):c.1083C>T (p.Thr361=)
NM_000552.5(VWF):c.1755G>A (p.Ala585=)
NM_000552.5(VWF):c.2187-30G>C rs1591882446
NM_000552.5(VWF):c.3692A>C (p.Asn1231Thr) rs61749368
NM_000552.5(VWF):c.6901+14C>T
NM_000552.5(VWF):c.7987-13T>C
NM_000552.5(VWF):c.8295C>T (p.Asn2765=)
NM_000554.6(CRX):c.-29T>A rs1568624071
NM_000557.5(GDF5):c.543C>T (p.Ser181=) rs754016979
NM_000558.3(HBA1):c.154G>C (p.Gly52Arg) rs33960522
NM_000558.3(HBA1):c.226G>T (p.Asp76Tyr) rs33977363
NM_000558.3(HBA1):c.270C>G (p.His90Gln) rs1061009
NM_000558.3(HBA1):c.272A>C (p.Lys91Thr) rs33911106
NM_000558.3(HBA1):c.349G>A (p.Glu117Lys) rs63749882
NM_000558.3(HBA1):c.49A>G (p.Lys17Glu) rs41407250
NM_000558.4(HBA1):c.-52C>T rs1276035978
NM_000558.5(HBA1):c.223G>C (p.Asp75His) rs28928875
NM_000558.5(HBA1):c.24G>C (p.Lys8Asn) rs34410516
NM_000558.5(HBA1):c.273G>C (p.Lys91Asn) rs33914470
NM_000558.5(HBA1):c.309C>A (p.Ser103Arg) rs34098449
NM_000558.5(HBA1):c.350A>C (p.Glu117Ala) rs35932809
NM_000558.5(HBA1):c.397G>A (p.Val133Met)
NM_000558.5(HBA1):c.417C>G (p.Ser139=)
NM_000558.5(HBA1):c.47G>A (p.Gly16Asp) rs281865560
NM_000558.5(HBA1):c.84G>T (p.Glu28Asp) rs41530750
NM_000558.5(HBA1):c.91G>A (p.Glu31Lys) rs33993166
NM_000558.5(HBA1):c.95+9C>T
NM_000559.2(HBG1):c.119A>G (p.Gln40Arg) rs35977759
NM_000559.2(HBG1):c.122G>A (p.Arg41Lys) rs33974602
NM_000559.3(HBG1):c.217G>A (p.Gly73Arg) rs34049890
NM_000559.3(HBG1):c.76G>A (p.Gly26Arg) rs35957832
NM_000637.5(GSR):c.531G>T (p.Thr177=) rs147119692
NM_000642.3(AGL):c.1284-16A>G
NM_000642.3(AGL):c.1319C>T (p.Ser440Phe) rs149771710
NM_000642.3(AGL):c.2158-18_2158-16del rs770934299
NM_000719.7(CACNA1C):c.1218-6C>T rs727503833
NM_000719.7(CACNA1C):c.4726+13G>A rs561365937
NM_000942.5(PPIB):c.580C>T (p.Leu194=)
NM_000942.5(PPIB):c.615C>T (p.Ile205=) rs1596027267
NM_001002010.5(NT5C3A):c.129C>A (p.Ile43=)
NM_001002010.5(NT5C3A):c.21G>A (p.Ala7=)
NM_001002010.5(NT5C3A):c.354+17A>G
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_001005361.3(DNM2):c.2589A>C (p.Pro863=) rs1555717448
NM_001005373.4(LRSAM1):c.72+10del rs1554753226
NM_001006658.3(CR2):c.2646T>C (p.Asn882=) rs1658400318
NM_001006658.3(CR2):c.3189-8_3189-7del rs112859639
NM_001006658.3(CR2):c.524C>T (p.Pro175Leu) rs75282758
NM_001009944.3(PKD1):c.1097C>G (p.Ser366Trp) rs752356523
NM_001009944.3(PKD1):c.11099G>A (p.Arg3700His) rs141668965
NM_001009944.3(PKD1):c.11304C>T (p.His3768=) rs1596482936
NM_001009944.3(PKD1):c.12237C>T (p.Ser4079=) rs372534935
NM_001009944.3(PKD1):c.2870T>C (p.Val957Ala) rs1555457473
NM_001009944.3(PKD1):c.2933A>G (p.Gln978Arg) rs1555457445
NM_001009944.3(PKD1):c.2967G>A (p.Ala989=) rs1324429294
NM_001009944.3(PKD1):c.45G>C (p.Leu15=) rs1208066805
NM_001009944.3(PKD1):c.5882C>T (p.Ala1961Val) rs375440448
NM_001009944.3(PKD1):c.6621C>G (p.Pro2207=) rs575553075
NM_001009944.3(PKD1):c.6792A>C (p.Ser2264=) rs142928249
NM_001009944.3(PKD1):c.6915+27A>C rs560681737
NM_001009944.3(PKD1):c.7280C>T (p.Ala2427Val) rs140494005
NM_001009944.3(PKD1):c.8161+40G>A rs2092255350
NM_001009944.3(PKD1):c.8204A>T (p.Gln2735Leu) rs141717814
NM_001009944.3(PKD1):c.9582C>T (p.Ala3194=) rs1399957695
NM_001009944.3(PKD1):c.9712+40G>A rs2092031694
NM_001009944.3(PKD1):c.9924-9_9924-7del rs892390487
NM_001013703.4(EIF2AK4):c.2025G>A (p.Leu675=) rs1237677524
NM_001013703.4(EIF2AK4):c.2249+15C>A rs367692390
NM_001013703.4(EIF2AK4):c.3378G>A (p.Val1126=)
NM_001029883.3(PCARE):c.2697C>T (p.Ser899=) rs1558488488
NM_001032221.6(STXBP1):c.87+19T>C
NM_001032386.2(SUOX):c.1335C>T (p.Ile445=) rs200569559
NM_001033855.3(DCLRE1C):c.918-14del rs1333161578
NM_001035.3(RYR2):c.10838+3C>T rs1417807379
NM_001035.3(RYR2):c.1293-18G>A rs1572400333
NM_001035.3(RYR2):c.7161G>A (p.Ala2387=) rs371560909
NM_001035.3(RYR2):c.9318T>A (p.Ser3106=) rs2797436
NM_001037.5(SCN1B):c.207+19C>T rs201872896
NM_001037333.3(CYFIP2):c.1524-9C>T
NM_001039141.3(TRIOBP):c.6472+14_6472+15insC rs546389039
NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln) rs111588143
NM_001042492.3(NF1):c.1261-30T>G rs1232901516
NM_001042492.3(NF1):c.1429T>C (p.Phe477Leu) rs1555612276
NM_001042492.3(NF1):c.1845+17_1845+18del rs765979407
NM_001042492.3(NF1):c.2085G>A (p.Leu695=) rs1060503889
NM_001042492.3(NF1):c.2514C>T (p.Ile838=) rs863224352
NM_001042492.3(NF1):c.5812+333T>C
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001065.4(TNFRSF1A):c.194-18_194-17del rs104895267
NM_001065.4(TNFRSF1A):c.552-16C>A rs1592045411
NM_001072.4(UGT1A6):c.18_19delinsTG (p.Ser7Ala)
NM_001081.4(CUBN):c.1530+14C>A
NM_001083603.3(PTCH1):c.198+165C>T
NM_001084.5(PLOD3):c.1006-5C>T rs1554378150
NM_001084.5(PLOD3):c.1209G>A (p.Leu403=) rs752918458
NM_001105206.3(LAMA4):c.4869C>T (p.Leu1623=) rs1554324509
NM_001109809.5(ZFP57):c.352+15G>T
NM_001110556.2(FLNA):c.1050G>C (p.Val350=) rs2148118238
NM_001110556.2(FLNA):c.2566-15_2566-13del rs2148114279
NM_001110556.2(FLNA):c.3429C>G (p.Thr1143=) rs183899917
NM_001110556.2(FLNA):c.4119C>T (p.Pro1373=) rs2067688016
NM_001110556.2(FLNA):c.4475-7G>C rs1557177326
NM_001110556.2(FLNA):c.4599-3C>T
NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=) rs201904661
NM_001110556.2(FLNA):c.5217+13G>T rs370737630
NM_001110556.2(FLNA):c.5557+19T>G rs2067644148
NM_001110556.2(FLNA):c.5610C>T (p.Ala1870=) rs782040591
NM_001110556.2(FLNA):c.6090G>A (p.Val2030=) rs2148105105
NM_001110556.2(FLNA):c.6380-10C>T rs2067629189
NM_001110556.2(FLNA):c.6502+7G>A rs782202978
NM_001110556.2(FLNA):c.7584C>T (p.His2528=) rs201883808
NM_001110556.2(FLNA):c.7812C>T (p.Ile2604=) rs1603358271
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr) rs61753973
NM_001114134.2(EPB42):c.1619-19C>T
NM_001114134.2(EPB42):c.550-37_550-12dup rs368862301
NM_001114753.3(ENG):c.1290G>T (p.Leu430=) rs377321205
NM_001114753.3(ENG):c.1852+36G>T rs1588572388
NM_001114753.3(ENG):c.1853-14GCTCCC[3] rs373296026
NM_001114753.3(ENG):c.1977G>A (p.Ter659=) rs1337723089
NM_001114753.3(ENG):c.618C>A (p.Gly206=) rs1830599217
NM_001127511.3(APC):c.166-28523C>T
NM_001127671.2(LIFR):c.33A>G (p.Pro11=)
NM_001130823.3(DNMT1):c.4608C>T (p.Asp1536=) rs761534071
NM_001134363.3(RBM20):c.1527+9G>A rs1057521554
NM_001136472.2(LITAF):c.429C>T (p.Asp143=)
NM_001142864.4(PIEZO1):c.112C>T (p.Leu38=)
NM_001142864.4(PIEZO1):c.1152C>T (p.Ile384=)
NM_001142864.4(PIEZO1):c.1211C>T (p.Ala404Val)
NM_001142864.4(PIEZO1):c.1296+13G>T rs143301625
NM_001142864.4(PIEZO1):c.1314C>T (p.Tyr438=)
NM_001142864.4(PIEZO1):c.1428G>A (p.Thr476=)
NM_001142864.4(PIEZO1):c.1641G>A (p.Ala547=) rs538102347
NM_001142864.4(PIEZO1):c.1848+15G>A
NM_001142864.4(PIEZO1):c.1917G>C (p.Leu639=)
NM_001142864.4(PIEZO1):c.2180+11G>A
NM_001142864.4(PIEZO1):c.2247GGA[6] (p.Glu755_Glu756del) rs59446030
NM_001142864.4(PIEZO1):c.2247GGA[9] (p.Glu756dup) rs59446030
NM_001142864.4(PIEZO1):c.2248G>C (p.Glu750Gln)
NM_001142864.4(PIEZO1):c.2460G>A (p.Leu820=)
NM_001142864.4(PIEZO1):c.2661C>T (p.Thr887=)
NM_001142864.4(PIEZO1):c.284-15C>G
NM_001142864.4(PIEZO1):c.2946C>T (p.Cys982=)
NM_001142864.4(PIEZO1):c.2982C>G (p.Phe994Leu) rs374262841
NM_001142864.4(PIEZO1):c.2982C>T (p.Phe994=) rs374262841
NM_001142864.4(PIEZO1):c.2991+15T>C
NM_001142864.4(PIEZO1):c.2992-13_2992-12insCCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACG rs752967733
NM_001142864.4(PIEZO1):c.3048C>A (p.Thr1016=)
NM_001142864.4(PIEZO1):c.3196+12G>A
NM_001142864.4(PIEZO1):c.3324C>T (p.Cys1108=)
NM_001142864.4(PIEZO1):c.3501C>T (p.Phe1167=)
NM_001142864.4(PIEZO1):c.3626G>A (p.Arg1209Gln)
NM_001142864.4(PIEZO1):c.3672C>T (p.Thr1224=) rs551750587
NM_001142864.4(PIEZO1):c.3699+20G>C rs4424896
NM_001142864.4(PIEZO1):c.3700-18_3700-17insCCCCGCTGGCCCCGCTGA
NM_001142864.4(PIEZO1):c.375C>T (p.Asp125=) rs753335111
NM_001142864.4(PIEZO1):c.3864C>T (p.Asp1288=)
NM_001142864.4(PIEZO1):c.4041G>A (p.Leu1347=)
NM_001142864.4(PIEZO1):c.4163-3C>T rs1315355781
NM_001142864.4(PIEZO1):c.4212G>C (p.Arg1404=)
NM_001142864.4(PIEZO1):c.4215C>G (p.Pro1405=)
NM_001142864.4(PIEZO1):c.4284G>A (p.Glu1428=) rs1372151973
NM_001142864.4(PIEZO1):c.4316C>T (p.Ser1439Leu)
NM_001142864.4(PIEZO1):c.4620C>T (p.Ser1540=)
NM_001142864.4(PIEZO1):c.466-16T>C
NM_001142864.4(PIEZO1):c.4775+17C>T
NM_001142864.4(PIEZO1):c.4785C>T (p.Gly1595=)
NM_001142864.4(PIEZO1):c.4955+16G>T
NM_001142864.4(PIEZO1):c.4955+19C>G
NM_001142864.4(PIEZO1):c.4998G>A (p.Ala1666=)
NM_001142864.4(PIEZO1):c.5139C>T (p.Leu1713=) rs369279313
NM_001142864.4(PIEZO1):c.5214+16G>T
NM_001142864.4(PIEZO1):c.5340C>T (p.Asp1780=) rs372159659
NM_001142864.4(PIEZO1):c.5393C>T (p.Ser1798Phe)
NM_001142864.4(PIEZO1):c.5475G>A (p.Gln1825=)
NM_001142864.4(PIEZO1):c.5515G>A (p.Glu1839Lys) rs77170706
NM_001142864.4(PIEZO1):c.5598G>A (p.Thr1866=)
NM_001142864.4(PIEZO1):c.5636A>G (p.Glu1879Gly)
NM_001142864.4(PIEZO1):c.5706G>A (p.Glu1902=)
NM_001142864.4(PIEZO1):c.5743C>A (p.Arg1915Ser) rs13338527
NM_001142864.4(PIEZO1):c.5778G>A (p.Arg1926=)
NM_001142864.4(PIEZO1):c.5920A>G (p.Ile1974Val)
NM_001142864.4(PIEZO1):c.5934C>T (p.Gly1978=) rs760875854
NM_001142864.4(PIEZO1):c.5991C>T (p.Asp1997=)
NM_001142864.4(PIEZO1):c.6108G>T (p.Ala2036=)
NM_001142864.4(PIEZO1):c.64+7G>C
NM_001142864.4(PIEZO1):c.6494AGA[4] (p.Lys2169del) rs763477215
NM_001142864.4(PIEZO1):c.6519C>T (p.Tyr2173=)
NM_001142864.4(PIEZO1):c.6886A>C (p.Thr2296Pro)
NM_001142864.4(PIEZO1):c.6927-19G>A
NM_001142864.4(PIEZO1):c.7368C>T (p.Arg2456=)
NM_001145809.2(MYH14):c.6096A>C (p.Pro2032=) rs2036794131
NM_001148.6(ANK2):c.1326C>T (p.Gly442=) rs1586382649
NM_001148.6(ANK2):c.3471C>T (p.Ile1157=) rs1157298737
NM_001148.6(ANK2):c.9039A>C (p.Ser3013=)
NM_001159699.2(FHL1):c.737-8C>G
NM_001177316.2(SLC34A3):c.195_215del (p.Arg65_Gly71del) rs532224704
NM_001184.4(ATR):c.151+9C>T rs765495429
NM_001191061.2(SLC25A22):c.141G>A (p.Thr47=) rs781681487
NM_001199397.3(NEK1):c.3374+9A>G
NM_001204.7(BMPR2):c.1659A>G (p.Glu553=) rs1688545784
NM_001204.7(BMPR2):c.2577T>C (p.Asn859=) rs1236150964
NM_001204.7(BMPR2):c.621+37C>G rs78779412
NM_001235.5(SERPINH1):c.954+15_954+18dup
NM_001243133.2(NLRP3):c.1011G>A (p.Lys337=) rs766978634
NM_001243133.2(NLRP3):c.195G>A (p.Ala65=) rs201205620
NM_001243133.2(NLRP3):c.2343G>T (p.Ser781=) rs764753476
NM_001243133.2(NLRP3):c.51T>C (p.Asp17=) rs1572151908
NM_001243177.4(ALDOA):c.684T>C (p.Tyr228=) rs1596813728
NM_001243177.4(ALDOA):c.966C>T (p.Ile322=)
NM_001244008.2(KIF1A):c.1038-4C>G
NM_001244008.2(KIF1A):c.1208-43C>T
NM_001244008.2(KIF1A):c.183+16G>C
NM_001244008.2(KIF1A):c.204G>T (p.Ala68=) rs141052770
NM_001244008.2(KIF1A):c.882+6C>G rs1290737564
NM_001256317.3(TMPRSS3):c.497G>T (p.Arg166Leu) rs150397427
NM_001256715.2(DNAAF3):c.1163+10G>T rs200324983
NM_001256715.2(DNAAF3):c.837G>A (p.Thr279=)
NM_001256715.2(DNAAF3):c.918C>T (p.Ala306=)
NM_001267550.2(TTN):c.100172-10del rs397517782
NM_001267550.2(TTN):c.101415T>G (p.Thr33805=) rs763434134
NM_001267550.2(TTN):c.11712T>C (p.Ser3904=) rs553478382
NM_001267550.2(TTN):c.15367T>C (p.Leu5123=) rs571195235
NM_001267550.2(TTN):c.26643C>T (p.Phe8881=) rs982955034
NM_001267550.2(TTN):c.2775+19G>T rs199707799
NM_001267550.2(TTN):c.29938G>A (p.Ala9980Thr) rs189286381
NM_001267550.2(TTN):c.39965C>G (p.Ala13322Gly) rs552545514
NM_001267550.2(TTN):c.60490G>C (p.Val20164Leu) rs72646843
NM_001267550.2(TTN):c.61206C>T (p.Pro20402=) rs1559582385
NM_001267550.2(TTN):c.62355C>T (p.Asp20785=) rs766020138
NM_001267550.2(TTN):c.67620G>A (p.Val22540=)
NM_001267550.2(TTN):c.68365T>C (p.Leu22789=) rs933098534
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu) rs372799151
NM_001267550.2(TTN):c.7020C>T (p.Ile2340=) rs587780986
NM_001267550.2(TTN):c.71883T>G (p.Val23961=)
NM_001267550.2(TTN):c.9618T>C (p.Phe3206=) rs878971586
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His) rs55704830
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro) rs55704830
NM_001267550.2(TTN):c.98340A>G (p.Lys32780=) rs1012677538
NM_001270508.2(TNFAIP3):c.291G>A (p.Thr97=)
NM_001277115.2(DNAH11):c.6273+9A>G rs192777767
NM_001291303.3(FAT4):c.739C>A (p.Pro247Thr) rs191329848
NM_001291415.2(KDM6A):c.1874C>T (p.Ser625Phe) rs765545282
NM_001297.5(CNGB1):c.2853C>A (p.Asp951Glu) rs7190978
NM_001303256.3(MORC2):c.1214+18A>G rs2040682380
NM_001308147.2(PLEKHG3):c.*5935G>C
NM_001354741.2(PFKM):c.-81+1966C>T
NM_001355436.2(SPTB):c.1004C>T (p.Thr335Met)
NM_001355436.2(SPTB):c.1425G>A (p.Glu475=)
NM_001355436.2(SPTB):c.1441C>T (p.Leu481=)
NM_001355436.2(SPTB):c.1523G>A (p.Arg508His)
NM_001355436.2(SPTB):c.228C>G (p.Thr76=) rs748108358
NM_001355436.2(SPTB):c.2499G>A (p.Val833=)
NM_001355436.2(SPTB):c.2696C>T (p.Thr899Ile)
NM_001355436.2(SPTB):c.3778A>T (p.Asn1260Tyr)
NM_001355436.2(SPTB):c.4278C>T (p.Asp1426=)
NM_001355436.2(SPTB):c.475-5C>T
NM_001355436.2(SPTB):c.5937+7G>A
NM_001355436.2(SPTB):c.6346-4G>C
NM_001355436.2(SPTB):c.6396G>C (p.Pro2132=)
NM_001355436.2(SPTB):c.753C>T (p.Leu251=)
NM_001355436.2(SPTB):c.921C>T (p.Tyr307=)
NM_001358263.1(HK1):c.28G>T (p.Ala10Ser)
NM_001358263.1(HK1):c.75+20336T>A rs769395943
NM_001358263.1(HK1):c.75+22_75+23dup
NM_001358263.1(HK1):c.75+5173_75+5174inv
NM_001360.3(DHCR7):c.606C>T (p.Phe202=) rs1591111340
NM_001360016.2(G6PD):c.-9+10C>T rs935099185
NM_001360016.2(G6PD):c.1288-14TC[2] rs199586268
NM_001360016.2(G6PD):c.318C>T (p.Ser106=) rs2148331419
NM_001360016.2(G6PD):c.864+8dup rs782714017
NM_001363118.2(SLC52A2):c.353C>A (p.Ala118Asp) rs117500243
NM_001364905.1(LRBA):c.6424C>T (p.Leu2142=) rs1438925105
NM_001365088.1(SLC12A6):c.316+6G>C rs1894227805
NM_001365304.2(LOC112694756):c.*1509-16C>T
NM_001365951.3(KIF1B):c.2115+7116G>A rs1334941848
NM_001366385.1(CARD14):c.599G>T (p.Ser200Ile) rs114688446
NM_001369.3(DNAH5):c.7407+4A>C
NM_001370259.2(MEN1):c.1170G>C (p.Pro390=) rs587780841
NM_001370259.2(MEN1):c.913-4C>T rs770413697
NM_001370298.3(FGD4):c.1543+17dup rs548627916
NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr) rs144693221
NM_001370298.3(FGD4):c.504-20C>G rs1592293275
NM_001370466.1(NOD2):c.1434G>A (p.Gly478=) rs769034739
NM_001370466.1(NOD2):c.2550-16_2550-15del rs762600414
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) rs2066845
NM_001370466.1(NOD2):c.309A>G (p.Pro103=) rs2150782456
NM_001371279.1(REEP1):c.784-18_784-15del rs760605373
NM_001375808.2(LPIN2):c.1169-7del rs746626720
NM_001375808.2(LPIN2):c.1169-7dup rs746626720
NM_001375808.2(LPIN2):c.1356A>G (p.Ala452=) rs2144161943
NM_001375808.2(LPIN2):c.1710+16G>A rs2077155215
NM_001375808.2(LPIN2):c.1716A>G (p.Pro572=) rs2077138820
NM_001375808.2(LPIN2):c.698+20_698+22del rs778249776
NM_001375808.2(LPIN2):c.840A>G (p.Arg280=) rs780138552
NM_001376.5(DYNC1H1):c.1461+10G>A rs368817833
NM_001376.5(DYNC1H1):c.3015+18C>G rs2749894
NM_001376.5(DYNC1H1):c.7968A>G (p.Gly2656=) rs2048333565
NM_001376.5(DYNC1H1):c.9726G>A (p.Lys3242=)
NM_001376013.1(EPB41):c.1800C>T (p.Asp600=)
NM_001376013.1(EPB41):c.1930A>G (p.Ile644Val)
NM_001376013.1(EPB41):c.2328T>C (p.Ser776=)
NM_001376013.1(EPB41):c.426C>T (p.Asp142=) rs2149522654
NM_001376256.1(CRYM):c.135C>A (p.Pro45=) rs1180636969
NM_001377.3(DYNC2H1):c.10042+7_10042+10del rs1483149779
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.764+20T>G
NM_001379270.1(CNGA1):c.762G>A (p.Leu254=) rs374697239
NM_001379610.1(SPINK1):c.195-15T>A
NM_001384140.1(PCDH15):c.92-18del rs754849913
NM_001384474.1(LOXHD1):c.1788A>G (p.Thr596=) rs368683058
NM_001386125.1(OBSCN):c.11041G>A (p.Gly3681Arg) rs200870329
NM_001386125.1(OBSCN):c.15852G>A (p.Thr5284=) rs370387618
NM_001386125.1(OBSCN):c.17582T>G (p.Phe5861Cys) rs936285838
NM_001386795.1(DTNA):c.654C>A (p.Pro218=) rs1478981280
NM_001395413.1(POR):c.1405G>A (p.Val469Met) rs72557946
NM_001430.5(EPAS1):c.1857G>A (p.Pro619=)
NM_001457.4(FLNB):c.1327G>C (p.Val443Leu) rs200902568
NM_001457.4(FLNB):c.2773G>T (p.Gly925Cys) rs139875974
NM_001457.4(FLNB):c.3163G>A (p.Val1055Met) rs9813235
NM_001457.4(FLNB):c.4191T>G (p.Val1397=)
NM_001457.4(FLNB):c.4515-24GT[4] rs151085835
NM_001458.5(FLNC):c.1549+7G>A
NM_001458.5(FLNC):c.4301G>T (p.Arg1434Leu) rs143623535
NM_001458.5(FLNC):c.5042C>G (p.Thr1681Arg) rs193159707
NM_001498.4(GCLC):c.-29AGG[4] rs3830798
NM_001498.4(GCLC):c.-34C>T
NM_001498.4(GCLC):c.1395+7A>G
NM_001498.4(GCLC):c.1581+8G>A
NM_001498.4(GCLC):c.330C>T (p.Tyr110=)
NM_001498.4(GCLC):c.447-3T>C
NM_001498.4(GCLC):c.828+13T>C rs2127621442
NM_001530.4(HIF1A):c.1762G>A (p.Ala588Thr)
NM_001530.4(HIF1A):c.774-3C>T
NM_001530.4(HIF1A):c.880+16G>T
NM_001540.5(HSPB1):c.384G>A (p.Gln128=)
NM_001605.3(AARS1):c.1290A>G (p.Glu430=) rs1567605886
NM_001605.3(AARS1):c.2232C>T (p.Ala744=) rs2152151841
NM_001605.3(AARS1):c.2287-12G>A rs749357717
NM_001613.4(ACTA2):c.399C>G (p.Ala133=) rs781132665
NM_001614.5(ACTG1):c.492C>T (p.Pro164=) rs1207365676
NM_001614.5(ACTG1):c.985-5dup rs782289893
NM_001711.6(BGN):c.909+15T>G rs2089808142
NM_001715.3(BLK):c.922A>G (p.Ile308Val)
NM_001753.5(CAV1):c.30+16G>A rs148066554
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu) rs186233557
NM_001844.5(COL2A1):c.3597+17del rs758237369
NM_001844.5(COL2A1):c.3648T>C (p.Pro1216=) rs1938662465
NM_001844.5(COL2A1):c.85+10C>A rs769941617
NM_001854.4(COL11A1):c.1792-39ATG[12] rs71752747
NM_001943.5(DSG2):c.207A>G (p.Pro69=)
NM_001999.4(FBN2):c.1078+18A>C
NM_001999.4(FBN2):c.1263T>G (p.Leu421=)
NM_001999.4(FBN2):c.1543T>A (p.Ser515Thr) rs528255772
NM_001999.4(FBN2):c.1945T>C (p.Leu649=)
NM_001999.4(FBN2):c.3217+19C>T
NM_001999.4(FBN2):c.4472-12del rs758812755
NM_001999.4(FBN2):c.4472-18T>A rs200285828
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.5200+15C>T rs1749988266
NM_001999.4(FBN2):c.5354-4A>G rs2126840686
NM_001999.4(FBN2):c.7594+10G>A rs1437523141
NM_001999.4(FBN2):c.7A>C (p.Arg3=) rs1466844222
NM_002148.4(HOXD10):c.429C>T (p.Asn143=) rs1222562257
NM_002230.4(JUP):c.1159-13C>T rs201627219
NM_002230.4(JUP):c.2047-14C>T rs116666639
NM_002234.4(KCNA5):c.1641G>T (p.Gly547=) rs1278466330
NM_002296.4(LBR):c.-39G>C rs553408012
NM_002296.4(LBR):c.924C>T (p.Val308=) rs1558653035
NM_002335.4(LRP5):c.1801+729G>A
NM_002335.4(LRP5):c.4489-15C>G
NM_002382.5(MAX):c.172-6278_172-6277del
NM_002471.4(MYH6):c.3979-10C>T rs28730768
NM_002471.4(MYH6):c.546G>A (p.Ala182=) rs150015506
NM_002471.4(MYH6):c.898+6C>T rs370158816
NM_002473.6(MYH9):c.334-17G>T rs1603483869
NM_002473.6(MYH9):c.5115G>A (p.Glu1705=)
NM_002474.3(MYH11):c.1464C>T (p.Asn488=) rs752601338
NM_002474.3(MYH11):c.2653-19C>T rs1490690225
NM_002474.3(MYH11):c.3420G>A (p.Gln1140=) rs972414065
NM_002474.3(MYH11):c.4206G>A (p.Glu1402=) rs1567699651
NM_002474.3(MYH11):c.4845A>G (p.Ala1615=)
NM_002474.3(MYH11):c.4953+17G>A
NM_002474.3(MYH11):c.5163G>T (p.Leu1721=) rs777919235
NM_002474.3(MYH11):c.912C>T (p.Phe304=) rs1060504022
NM_002485.5(NBN):c.1008A>T (p.Thr336=) rs786201619
NM_002485.5(NBN):c.1398-10dup rs587780555
NM_002485.5(NBN):c.480+4G>A rs1812019530
NM_002524.5(NRAS):c.451-21_451-19del rs754048062
NM_002529.4(NTRK1):c.1355-19G>C rs375972171
NM_002661.5(PLCG2):c.3198+6G>A rs752647511
NM_002755.4(MAP2K1):c.1068+12_1068+15del rs397516788
NM_002769.5(PRSS1):c.162C>T (p.Asn54=) rs148440491
NM_002769.5(PRSS1):c.360C>T (p.Asn120=) rs606231348
NM_002769.5(PRSS1):c.40+15C>T rs760370254
NM_002769.5(PRSS1):c.40+36C>G rs200529674
NM_002769.5(PRSS1):c.40+40C>T rs200159984
NM_002769.5(PRSS1):c.592-8C>A rs200381474
NM_002834.5(PTPN11):c.933+25T>C rs727505386
NM_002838.5(PTPRC):c.177C>G (p.Pro59=) rs17612648
NM_002838.5(PTPRC):c.933T>C (p.Cys311=) rs766607810
NM_002858.4(ABCD3):c.684+228G>A
NM_002878.4(RAD51D):c.263+1610C>T
NM_002880.4(RAF1):c.1668+19G>T rs5746245
NM_002890.3(RASA1):c.2739G>C (p.Arg913=) rs375135791
NM_002890.3(RASA1):c.71C>G (p.Ala24Gly) rs1364111237
NM_002907.4(RECQL):c.395-4T>C rs1294009228
NM_002972.4(SBF1):c.2799G>A (p.Thr933=) rs774121119
NM_003000.2(SDHB):c.424-16_424-14dup rs34261028
NM_003000.3(SDHB):c.424-37TTC[6] rs34261028
NM_003001.5(SDHC):c.78-19C>A rs144770080
NM_003036.4(SKI):c.1887G>A (p.Glu629=) rs771953750
NM_003036.4(SKI):c.969+10C>T
NM_003072.5(SMARCA4):c.1944-12C>T rs149763341
NM_003072.5(SMARCA4):c.2439-4T>C rs1060504430
NM_003072.5(SMARCA4):c.4825C>T (p.Leu1609=) rs878854232
NM_003073.5(SMARCB1):c.500+40C>T
NM_003073.5(SMARCB1):c.796-4_796-3del rs772576999
NM_003098.3(SNTA1):c.669G>A (p.Ser223=) rs199762207
NM_003114.5(SPAG1):c.2280+13_2280+16del
NM_003118.4(SPARC):c.*114_*115del
NM_003126.4(SPTA1):c.121C>A (p.Arg41=) rs121918640
NM_003126.4(SPTA1):c.2160C>T (p.Ala720=) rs199815523
NM_003126.4(SPTA1):c.2899-14C>T
NM_003126.4(SPTA1):c.3720C>T (p.Thr1240=)
NM_003126.4(SPTA1):c.390+9A>G
NM_003126.4(SPTA1):c.3997-5C>T
NM_003126.4(SPTA1):c.4833G>A (p.Arg1611=) rs145288947
NM_003126.4(SPTA1):c.4875+12C>T rs139797540
NM_003126.4(SPTA1):c.5433-19G>C
NM_003126.4(SPTA1):c.5834-18A>G
NM_003126.4(SPTA1):c.6121-11del rs548425429
NM_003126.4(SPTA1):c.6549-12G>A rs857716
NM_003126.4(SPTA1):c.853C>A (p.Pro285Thr) rs150007668
NM_003200.5(TCF3):c.1167+11GCCCC[3]
NM_003200.5(TCF3):c.1291_1293delinsAGT (p.Gly431Ser) rs386805766
NM_003200.5(TCF3):c.1806G>A (p.Leu602=) rs1376446279
NM_003200.5(TCF3):c.879CTC[1] (p.Ser295del) rs550914200
NM_003200.5(TCF3):c.888C>T (p.Ala296=) rs34203855
NM_003238.6(TGFB2):c.643+11_643+12del
NM_003239.5(TGFB3):c.711T>C (p.Asp237=) rs1206735679
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.264-7A>G rs1001983657
NM_003280.3(TNNC1):c.102C>A (p.Gly34=) rs1048914110
NM_003280.3(TNNC1):c.454+17G>A rs754572435
NM_003322.6(TULP1):c.1278T>C (p.Pro426=) rs564743170
NM_003336.4(UBE2A):c.111C>T (p.Asn37=) rs1556235602
NM_003482.4(KMT2D):c.11202GCA[8] (p.Gln3745dup) rs398123707
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr) rs143711798
NM_003659.4(AGPS):c.1233+13AT[7] rs200546003
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del) rs397516862
NM_003680.4(YARS1):c.1042+20G>A
NM_003924.4(PHOX2B):c.741C>G (p.Ala247=) rs764470906
NM_003924.4(PHOX2B):c.741_758del (p.Ala255_Ala260del) rs771383153
NM_003924.4(PHOX2B):c.765_779del (p.Ala256_Ala260del) rs761018157
NM_003978.5(PSTPIP1):c.929+8C>T
NM_003998.4(NFKB1):c.2227+18C>T rs375361337
NM_004004.6(GJB2):c.294G>C (p.Arg98=) rs1334783390
NM_004006.3(DMD):c.10554-28T>C
NM_004006.3(DMD):c.1812+16C>T rs2052663784
NM_004006.3(DMD):c.4744G>A (p.Val1582Ile) rs398123965
NM_004006.3(DMD):c.5154+15A>G rs1603631739
NM_004082.5(DCTN1):c.280-34_280-12dup rs762313810
NM_004100.5(EYA4):c.1107+19A>T rs1562471490
NM_004168.4(SDHA):c.-7A>C rs751633537
NM_004168.4(SDHA):c.622-7C>T rs759371428
NM_004183.4(BEST1):c.132C>T (p.Tyr44=)
NM_004239.4(TRIP11):c.4558-18A>C rs201561387
NM_004239.4(TRIP11):c.4842A>G (p.Thr1614=)
NM_004304.5(ALK):c.2550G>A (p.Gly850=) rs772710286
NM_004329.3(BMPR1A):c.230+20C>G rs755474277
NM_004333.6(BRAF):c.608+19G>C rs200908826
NM_004360.5(CDH1):c.1452C>T (p.Pro484=) rs1597898030
NM_004360.5(CDH1):c.2475G>A (p.Pro825=) rs755658014
NM_004360.5(CDH1):c.2493C>T (p.Leu831=) rs779267700
NM_004364.5(CEBPA):c.705G>A (p.Pro235=) rs1600022049
NM_004415.4(DSP):c.2418T>C (p.Ala806=) rs1759183681
NM_004415.4(DSP):c.2631-10T>A rs369840498
NM_004415.4(DSP):c.3084+8A>T
NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del) rs397516962
NM_004444.5(EPHB4):c.52+14_52+16del
NM_004700.4(KCNQ4):c.1647C>T (p.Phe549=) rs1362729181
NM_004863.4(SPTLC2):c.761G>C (p.Cys254Ser) rs572378641
NM_004958.4(MTOR):c.3459C>T (p.Ser1153=)
NM_004984.4(KIF5A):c.138A>G (p.Pro46=) rs2140158738
NM_004984.4(KIF5A):c.397-16_397-14del rs375316447
NM_004990.4(MARS1):c.887+17G>C rs201259473
NM_005159.5(ACTC1):c.616+5GT[4] rs749539033
NM_005159.5(ACTC1):c.975C>T (p.Ser325=) rs939520463
NM_005188.4(CBL):c.1365TGA[7] (p.Asp460dup) rs397507494
NM_005188.4(CBL):c.1629A>G (p.Pro543=) rs558577411
NM_005228.5(EGFR):c.438C>T (p.Gly146=) rs199637112
NM_005334.3(HCFC1):c.4638C>T (p.Ala1546=)
NM_005359.6(SMAD4):c.1447+9G>A rs878854766
NM_005359.6(SMAD4):c.787+15T>G rs374687785
NM_005428.4(VAV1):c.2532C>T (p.Tyr844=) rs373692240
NM_005475.3(SH2B3):c.1137G>A (p.Gln379=)
NM_005475.3(SH2B3):c.733-11835T>C
NM_005529.7(HSPG2):c.11717G>A (p.Arg3906Gln) rs78944354
NM_005529.7(HSPG2):c.11983T>C (p.Leu3995=)
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu) rs113652076
NM_005529.7(HSPG2):c.5997+13del rs529255698
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=) rs150129885
NM_005529.7(HSPG2):c.6819C>T (p.His2273=) rs151177187
NM_005529.7(HSPG2):c.6981G>C (p.Gly2327=) rs776803197
NM_005529.7(HSPG2):c.7983C>T (p.Ile2661=)
NM_005529.7(HSPG2):c.8336G>A (p.Arg2779Gln) rs529205824
NM_005529.7(HSPG2):c.8616+9G>A rs189754659
NM_005548.3(KARS1):c.1425-5C>T
NM_005591.4(MRE11):c.660-6A>G rs1946722633
NM_005591.4(MRE11):c.845+9T>C
NM_005633.4(SOS1):c.1203-18T>A
NM_005633.4(SOS1):c.2167+16del rs79984786
NM_005633.4(SOS1):c.225A>G (p.Gln75=) rs560037748
NM_005633.4(SOS1):c.2511-13_2511-9del rs727503436
NM_005633.4(SOS1):c.3392-14T>G
NM_005751.5(AKAP9):c.28C>T (p.Leu10=) rs778519429
NM_005901.6(SMAD2):c.372A>C (p.Pro124=)
NM_005901.6(SMAD2):c.687T>C (p.Asp229=)
NM_005901.6(SMAD2):c.87C>T (p.Gly29=)
NM_005902.4(SMAD3):c.1059C>T (p.Ala353=) rs767649515
NM_005902.4(SMAD3):c.30G>T (p.Pro10=)
NM_006005.3(WFS1):c.1038G>A (p.Pro346=) rs143886476
NM_006005.3(WFS1):c.154C>A (p.Pro52Thr) rs111773340
NM_006005.3(WFS1):c.2013G>T (p.Ala671=)
NM_006005.3(WFS1):c.2387ACG[3] (p.Asp797dup) rs397517197
NM_006005.3(WFS1):c.350C>T (p.Thr117Met) rs141225426
NM_006005.3(WFS1):c.57G>C (p.Pro19=)
NM_006005.3(WFS1):c.943C>T (p.Leu315=)
NM_006030.4(CACNA2D2):c.2143+16G>T
NM_006031.6(PCNT):c.1083A>G (p.Leu361=) rs758561093
NM_006031.6(PCNT):c.1438A>G (p.Ser480Gly)
NM_006031.6(PCNT):c.1457-12G>A rs756968448
NM_006031.6(PCNT):c.1971C>T (p.Asp657=)
NM_006031.6(PCNT):c.2062C>T (p.Leu688Phe)
NM_006031.6(PCNT):c.4571C>G (p.Pro1524Arg) rs35513449
NM_006031.6(PCNT):c.5505G>A (p.Leu1835=)
NM_006031.6(PCNT):c.597A>T (p.Thr199=)
NM_006031.6(PCNT):c.7199G>A (p.Arg2400His)
NM_006031.6(PCNT):c.7G>C (p.Val3Leu) rs1175937762
NM_006031.6(PCNT):c.8906G>A (p.Arg2969Gln)
NM_006031.6(PCNT):c.924G>A (p.Glu308=) rs146178359
NM_006060.6(IKZF1):c.825G>A (p.Lys275=) rs1064796324
NM_006073.4(TRDN):c.1672+6T>C
NM_006073.4(TRDN):c.1721-4A>T rs60743141
NM_006073.4(TRDN):c.425-11dup rs950851610
NM_006073.4(TRDN):c.931+18del rs201431159
NM_006096.4(NDRG1):c.1053_1082del (p.340TRSRSHTSEG[2]) rs751274009
NM_006158.5(NEFL):c.1392G>A (p.Glu464=) rs1554497334
NM_006182.4(DDR2):c.1158C>A (p.Thr386=) rs781486678
NM_006231.4(POLE):c.1695C>A (p.Ala565=) rs139748472
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg) rs5744971
NM_006258.4(PRKG1):c.1674A>C (p.Ser558=) rs1564544689
NM_006258.4(PRKG1):c.546G>A (p.Gly182=) rs73336216
NM_006269.2(RP1):c.510T>G (p.Val170=) rs1407578080
NM_006329.4(FBLN5):c.862+12C>G rs202088447
NM_006363.6(SEC23B):c.2229C>T (p.Pro743=)
NM_006363.6(SEC23B):c.835-10G>A
NM_006363.6(SEC23B):c.873T>C (p.Phe291=)
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) rs119482084
NM_006446.5(SLCO1B1):c.-3A>G
NM_006506.5(RASA2):c.1591-20G>A rs1462837025
NM_006579.3(EBP):c.-74+3G>C rs188270695
NM_006767.4(LZTR1):c.1450-12T>G rs538025751
NM_006767.4(LZTR1):c.1785+13_1785+33dup
NM_006790.3(MYOT):c.343G>A (p.Ala115Thr) rs114194130
NM_006939.4(SOS2):c.1125T>C (p.Ile375=) rs1885009611
NM_006939.4(SOS2):c.346-5C>T
NM_007194.4(CHEK2):c.925C>T (p.Leu309=) rs786202521
NM_007272.3(CTRC):c.249T>C (p.Arg83=) rs1570783555
NM_007272.3(CTRC):c.357-30C>A rs1224734295
NM_007272.3(CTRC):c.357-3C>T
NM_007272.3(CTRC):c.640-40G>C rs191025876
NM_007272.3(CTRC):c.640-40G>T rs191025876
NM_007272.3(CTRC):c.640-41G>T rs186735838
NM_007272.3(CTRC):c.640-42G>C rs199897030
NM_007272.3(CTRC):c.696T>C (p.Phe232=) rs1557510814
NM_007272.3(CTRC):c.747G>T (p.Pro249=) rs150078209
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del) rs80358329
NM_007294.4(BRCA1):c.212+15A>G rs587780797
NM_007294.4(BRCA1):c.243A>G (p.Gln81=) rs863224418
NM_007294.4(BRCA1):c.2668G>A (p.Gly890Arg) rs80357200
NM_007294.4(BRCA1):c.301+11A>C rs1555596621
NM_007294.4(BRCA1):c.3090C>T (p.Asn1030=) rs1221088119
NM_007294.4(BRCA1):c.3143G>T (p.Gly1048Val) rs80356899
NM_007294.4(BRCA1):c.3519T>C (p.Ser1173=) rs1597863152
NM_007294.4(BRCA1):c.3597T>A (p.Ala1199=) rs1555587434
NM_007294.4(BRCA1):c.4097-6T>C rs1555586284
NM_007294.4(BRCA1):c.4185+24A>G rs763074389
NM_007294.4(BRCA1):c.4186-10G>A rs80358172
NM_007294.4(BRCA1):c.426C>T (p.Pro142=) rs542687218
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) rs41293455
NM_007294.4(BRCA1):c.4419T>C (p.Ser1473=) rs730881455
NM_007294.4(BRCA1):c.4484+37A>G rs2052715065
NM_007294.4(BRCA1):c.4987-16T>C rs773821829
NM_007294.4(BRCA1):c.5025T>C (p.Thr1675=) rs876658226
NM_007294.4(BRCA1):c.5075-9A>G rs80358059
NM_007294.4(BRCA1):c.5198A>G (p.Asp1733Gly) rs80357270
NM_007294.4(BRCA1):c.5406+19G>C rs2051068026
NM_007294.4(BRCA1):c.548-9del rs273902774
NM_007294.4(BRCA1):c.5538G>A (p.Gln1846=) rs80356849
NM_007294.4(BRCA1):c.739A>G (p.Asn247Asp) rs767720128
NM_007294.4(BRCA1):c.81-13C>A rs56328013
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser) rs8176153
NM_012092.4(ICOS):c.395-19A>G
NM_012096.3(APPL1):c.374-9C>T
NM_012213.3(MLYCD):c.1296C>T (p.Arg432=)
NM_012330.4(KAT6B):c.3238G>A (p.Glu1080Lys) rs1564626220
NM_013296.5(GPSM2):c.1560AAC[2] (p.Thr523del) rs199964596
NM_013314.4(BLNK):c.1020C>T (p.Gly340=) rs375535673
NM_014000.3(VCL):c.120C>T (p.Leu40=) rs144080529
NM_014014.5(SNRNP200):c.382-13T>C rs759075763
NM_014140.4(SMARCAL1):c.1334+15T>A
NM_014208.3(DSPP):c.3447A>T (p.Glu1149Asp)
NM_014215.3(INSRR):c.3397+23G>A
NM_014336.5(AIPL1):c.771C>T (p.Leu257=) rs781449220
NM_014629.4(ARHGEF10):c.1911A>G (p.Lys637=) rs1222847857
NM_014639.4(SKIC3):c.2077G>A (p.Val693Ile) rs150894862
NM_014639.4(SKIC3):c.4497-14dup rs755628334
NM_014822.4(SEC24D):c.2093-14T>C
NM_014845.6(FIG4):c.2097-10C>G rs142482745
NM_014920.5(CILK1):c.534C>T (p.Ser178=) rs543243399
NM_015046.7(SETX):c.7200-10dup rs531485265
NM_015139.3(SLC35D1):c.393-5dup rs5774854
NM_015139.3(SLC35D1):c.687G>T (p.Leu229=) rs920330019
NM_015271.5(TRIM2):c.1554G>A (p.Gly518=)
NM_015450.3(POT1):c.547-10C>T rs1413025095
NM_015466.4(PTPN23):c.1278G>A (p.Ala426=)
NM_015512.5(DNAH1):c.2241C>T (p.Tyr747=) rs145912972
NM_015512.5(DNAH1):c.6309C>T (p.Ile2103=)
NM_015512.5(DNAH1):c.6526-10_6526-9del rs562893788
NM_015915.5(ATL1):c.418-8G>T
NM_016156.6(MTMR2):c.184_186del (p.Arg62del) rs141498429
NM_016203.4(PRKAG2):c.1005+8G>C rs1245068890
NM_016203.4(PRKAG2):c.375G>A (p.Gly125=) rs748041666
NM_016203.4(PRKAG2):c.466+45239T>G
NM_016203.4(PRKAG2):c.606G>A (p.Gln202=)
NM_016204.4(GDF2):c.-12C>T rs571429116
NM_016204.4(GDF2):c.69G>T (p.Lys23Asn) rs549031631
NM_016204.4(GDF2):c.740G>C (p.Gly247Ala) rs369219783
NM_016938.5(EFEMP2):c.490+9A>T rs1465424178
NM_016938.5(EFEMP2):c.591C>T (p.Asn197=)
NM_017553.3(INO80):c.2644A>G (p.Ile882Val)
NM_017553.3(INO80):c.3323T>G (p.Val1108Gly)
NM_017617.5(NOTCH1):c.1443C>T (p.Gly481=)
NM_017617.5(NOTCH1):c.17C>T (p.Ala6Val)
NM_017617.5(NOTCH1):c.17_18delinsTT (p.Ala6Val) rs878855023
NM_017617.5(NOTCH1):c.18G>T (p.Ala6=)
NM_017617.5(NOTCH1):c.2468-7C>T
NM_017617.5(NOTCH1):c.3262G>A (p.Gly1088Ser) rs531420022
NM_017617.5(NOTCH1):c.6351C>T (p.Asn2117=)
NM_017620.3(ILF3):c.1070-15G>A rs2068263275
NM_017636.4(TRPM4):c.1944C>G (p.Leu648=) rs1968308985
NM_017636.4(TRPM4):c.2529G>A (p.Gly843=) rs754769591
NM_017636.4(TRPM4):c.2766C>A (p.Ile922=) rs774680517
NM_017636.4(TRPM4):c.2778+8del rs1600513831
NM_017668.3(NDE1):c.947+11989AG[2] rs747642850
NM_017668.3(NDE1):c.947+11989AG[3] rs747642850
NM_017668.3(NDE1):c.948-7058C>T rs529718944
NM_017802.4(DNAAF5):c.2082+8del rs878855035
NM_017950.4(CCDC40):c.1562+2003C>A
NM_018139.3(DNAAF2):c.1119C>T (p.Ser373=)
NM_018706.7(DHTKD1):c.2047+16T>C rs1833248223
NM_018979.4(WNK1):c.1767C>G (p.Leu589=)
NM_018979.4(WNK1):c.1776G>A (p.Gln592=) rs747700724
NM_018979.4(WNK1):c.4605_4607del (p.Ser1536del) rs72650732
NM_018979.4(WNK1):c.5542_5550del (p.Thr1848_Ser1850del) rs544395150
NM_019075.4(UGT1A10):c.855+45220C>T
NM_019076.5(UGT1A8):c.1075+20T>G
NM_019076.5(UGT1A8):c.1299C>T (p.Tyr433=)
NM_019076.5(UGT1A8):c.855+63761_855+63762delinsGG rs2125523027
NM_019076.5(UGT1A8):c.855+64104T>C
NM_019076.5(UGT1A8):c.856-73523C>T
NM_019109.5(ALG1):c.25C>T (p.Leu9=) rs771370322
NM_019844.4(SLCO1B3):c.1241C>T (p.Thr414Ile) rs146940490
NM_019844.4(SLCO1B3):c.1464A>G (p.Gly488=)
NM_019844.4(SLCO1B3):c.1974A>C (p.Ala658=) rs774423704
NM_019844.4(SLCO1B3):c.481+12_481+25del rs766220111
NM_019844.4(SLCO1B3):c.481+3A>G rs199631489
NM_019844.4(SLCO1B3):c.481+7A>G
NM_020435.4(GJC2):c.979T>C (p.Leu327=) rs2034725952
NM_020631.6(PLEKHG5):c.-88+6208C>T
NM_020631.6(PLEKHG5):c.1681-27_1681-3dup rs748372368
NM_020631.6(PLEKHG5):c.1710G>A (p.Leu570=) rs1644528365
NM_020631.6(PLEKHG5):c.43+14_43+20del rs527883968
NM_020779.4(WDR35):c.1401-14_1401-10del
NM_020800.3(IFT80):c.1326C>G (p.Leu442=) rs886058131
NM_020806.5(GPHN):c.1809A>G (p.Thr603=)
NM_020975.6(RET):c.1230C>G (p.Leu410=) rs995081128
NM_020975.6(RET):c.2393-14C>T rs144269978
NM_021625.5(TRPV4):c.1584+17dup rs1011607708
NM_021625.5(TRPV4):c.1825-15C>T rs200602134
NM_021625.5(TRPV4):c.528C>T (p.His176=)
NM_021625.5(TRPV4):c.957G>C (p.Ser319=) rs116698155
NM_021629.4(GNB4):c.162C>T (p.His54=)
NM_021939.4(FKBP10):c.1256+11G>C rs199627092
NM_021939.4(FKBP10):c.1557G>A (p.Pro519=)
NM_021939.4(FKBP10):c.246-5C>G rs140027863
NM_021939.4(FKBP10):c.81G>A (p.Val27=) rs775987430
NM_022114.4(PRDM16):c.60T>C (p.Asn20=)
NM_022124.6(CDH23):c.5130C>T (p.Ile1710=) rs111033487
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847
NM_022356.4(P3H1):c.690G>C (p.Ala230=) rs376714509
NM_022356.4(P3H1):c.808+9A>T rs1553143084
NM_022356.4(P3H1):c.940+15C>G
NM_022489.4(INF2):c.3342C>G (p.Leu1114=) rs777623201
NM_024009.3(GJB3):c.109G>A (p.Val37Met) rs148388884
NM_024009.3(GJB3):c.652_663del (p.Leu218_Asp221del) rs727503069
NM_024301.5(FKRP):c.948C>T (p.Pro316=) rs945877846
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.6(DSC2):c.2509-18T>C rs1598569530
NM_024426.6(WT1):c.1448-10G>T rs185744719
NM_024577.4(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe) rs863224780
NM_024577.4(SH3TC2):c.438C>A (p.Leu146=) rs976553031
NM_024675.4(PALB2):c.212-10del rs766487430
NM_024675.4(PALB2):c.9G>A (p.Glu3=) rs786202325
NM_024753.5(TTC21B):c.1956A>G (p.Glu652=) rs1686129480
NM_025132.4(WDR19):c.2364-4del rs750106753
NM_025132.4(WDR19):c.3303A>G (p.Gln1101=) rs1734984378
NM_025132.4(WDR19):c.717-11C>G rs1370589827
NM_030662.4(MAP2K2):c.985-19C>A rs987549297
NM_030962.4(SBF2):c.1863T>C (p.Asp621=)
NM_030962.4(SBF2):c.2611-35AATC[6] rs202029370
NM_030962.4(SBF2):c.5017GAA[1] (p.Glu1674del) rs572571832
NM_032119.4(ADGRV1):c.6274+20TTA[4] rs771346895
NM_032119.4(ADGRV1):c.8805T>G (p.Thr2935=) rs1561569406
NM_032415.7(CARD11):c.1341+15G>A
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1]) rs397517465
NM_033118.4(MYLK2):c.1083-5C>T rs1600410950
NM_033163.5(FGF8):c.86_103dup (p.Gly29_Arg34dup) rs762175290
NM_033380.3(COL4A5):c.3553+10_3553+11delinsA
NM_052854.4(CREB3L1):c.1259-14C>T
NM_052854.4(CREB3L1):c.132G>A (p.Thr44=)
NM_053025.4(MYLK):c.1209C>A (p.Ile403=) rs1553822281
NM_053025.4(MYLK):c.1713G>A (p.Gln571=)
NM_053025.4(MYLK):c.3138C>T (p.Thr1046=) rs1279460356
NM_053025.4(MYLK):c.4131G>A (p.Thr1377=) rs756697460
NM_053025.4(MYLK):c.4344T>C (p.Asp1448=)
NM_053025.4(MYLK):c.588+13_588+16del rs570821069
NM_053274.3(GLMN):c.1410-19AT[2] rs555041177
NM_058216.3(RAD51C):c.570G>A (p.Glu190=) rs1555594937
NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln) rs199866657
NM_080860.4(RSPH1):c.727+15C>G rs202146973
NM_130810.4(DNAAF4):c.1047+13A>G
NM_133261.3(GIPC3):c.69G>A (p.Ala23=) rs150473323
NM_133379.5(TTN):c.13011G>A (p.Val4337=) rs759739112
NM_138477.4(CDAN1):c.1740-20C>T
NM_138477.4(CDAN1):c.1740-6_1740-4del
NM_138477.4(CDAN1):c.2174+11C>T rs749464836
NM_138477.4(CDAN1):c.2229G>C (p.Leu743=)
NM_138477.4(CDAN1):c.2353-18C>A
NM_138477.4(CDAN1):c.3097-26_3097-20del
NM_138477.4(CDAN1):c.3135C>T (p.Asp1045=) rs146289653
NM_138477.4(CDAN1):c.3189G>A (p.Thr1063=)
NM_138477.4(CDAN1):c.375G>A (p.Pro125=)
NM_138477.4(CDAN1):c.639C>G (p.Thr213=)
NM_138477.4(CDAN1):c.804C>A (p.Pro268=)
NM_144687.4(NLRP12):c.3015G>A (p.Leu1005=)
NM_144997.7(FLCN):c.871+170_871+178del rs750424403
NM_145038.5(DRC1):c.765+15C>T
NM_147127.5(EVC2):c.1711-12_1711-10dup rs35103377
NM_147127.5(EVC2):c.3272+8G>A rs201800139
NM_153717.3(EVC):c.1528G>A (p.Val510Ile) rs143971158
NM_153717.3(EVC):c.703-4del rs2152000379
NM_153717.3(EVC):c.802-17TTC[4] rs370315662
NM_170707.4(LMNA):c.1212T>C (p.Ser404=) rs1651612070
NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup) rs35574083
NM_175914.5(HNF4A):c.609C>T (p.Gly203=)
NM_177438.3(DICER1):c.177T>C (p.Asn59=) rs780984249
NM_177438.3(DICER1):c.4254GGA[2] (p.Glu1420del) rs544960260
NM_177438.3(DICER1):c.5250A>G (p.Val1750=) rs1595330127
NM_177438.3(DICER1):c.5365-7_5365-6del rs767777044
NM_177438.3(DICER1):c.735-16G>A rs1340092363
NM_181078.3(IL21R):c.-17+585C>T rs114226509
NM_181078.3(IL21R):c.508-30_508-20del rs2087443169
NM_181523.3(PIK3R1):c.634+8T>C rs368138177
NM_181882.3(PRX):c.993G>T (p.Pro331=) rs146323928
NM_182916.3(TRNT1):c.810_811insAAACTT (p.Pro270_Ala271insLysLeu) rs527331900
NM_182925.5(FLT4):c.1452A>G (p.Pro484=) rs574670594
NM_182961.4(SYNE1):c.23139T>C (p.Arg7713=) rs899533876
NM_182972.3(IRF2BP2):c.928C>T (p.Leu310=) rs1672238574
NM_194248.3(OTOF):c.510-7del
NM_194454.3(KRIT1):c.1308G>A (p.Leu436=) rs1190790030
NM_201596.3(CACNB2):c.1670C>T (p.Ser557Leu) rs137886839
NM_203486.3(DLL3):c.616C>G (p.Pro206Ala) rs376905666
NM_206933.4(USH2A):c.4680A>C (p.Ala1560=) rs1233583863
NM_206933.4(USH2A):c.6462G>A (p.Leu2154=) rs1558203898
NM_206933.4(USH2A):c.9258+3T>C rs1553268427
NM_213622.4(STAMBP):c.33C>T (p.Pro11=) rs145371363

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