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_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_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_000642.3(AGL):c.112A>G (p.Thr38Ala)
|
rs35278779
|
0.01527
|
NM_006446.5(SLCO1B1):c.1200C>G (p.Phe400Leu)
|
rs59113707
|
0.01516
|
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_000037.4(ANK1):c.654C>A (p.Asn218Lys)
|
rs61735313
|
0.01280
|
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_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_178452.6(DNAAF1):c.1769C>T (p.Thr590Met)
|
rs34777958
|
0.01090
|
NM_000717.5(CA4):c.700G>A (p.Val234Ile)
|
rs117704637
|
0.01071
|
NM_006721.4(ADK):c.726+11T>G
|
rs45529443
|
0.01033
|
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_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_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_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_174936.4(PCSK9):c.1326C>T (p.Ala442=)
|
rs28362262
|
0.00856
|
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_006363.6(SEC23B):c.834+116A>G
|
rs113825530
|
0.00772
|
NM_006363.6(SEC23B):c.1743+168A>G
|
rs111951711
|
0.00771
|
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_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_001291303.3(FAT4):c.12071G>A (p.Arg4024Gln)
|
rs28515675
|
0.00726
|
NM_052945.4(TNFRSF13C):c.191G>T (p.Gly64Val)
|
rs547352394
|
0.00722
|
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_014874.4(MFN2):c.957C>T (p.Gly319=)
|
rs41278632
|
0.00690
|
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_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_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_012452.3(TNFRSF13B):c.61+10C>T
|
rs148297590
|
0.00621
|
NM_000243.3(MEFV):c.*9C>T
|
rs11466048
|
0.00618
|
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_002529.4(NTRK1):c.2272G>A (p.Ala758Thr)
|
rs62640939
|
0.00591
|
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_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_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.783C>T (p.Cys261=)
|
rs61730328
|
0.00553
|
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_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_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_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_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_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_001267550.2(TTN):c.95035G>A (p.Asp31679Asn)
|
rs116567963
|
0.00481
|
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_001364905.1(LRBA):c.3826-5A>G
|
rs114629781
|
0.00462
|
NM_000243.3(MEFV):c.1760-4G>A
|
rs79662406
|
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_153717.3(EVC):c.469C>G (p.Pro157Ala)
|
rs146729456
|
0.00451
|
NM_001142864.4(PIEZO1):c.1199G>A (p.Arg400Gln)
|
rs139100986
|
0.00450
|
NM_000342.4(SLC4A1):c.12G>A (p.Leu4=)
|
rs115901854
|
0.00447
|
NM_020631.6(PLEKHG5):c.2581C>T (p.Arg861Cys)
|
rs148560273
|
0.00443
|
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=)
|
rs41300676
|
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_001134363.3(RBM20):c.2655+15A>G
|
rs187915202
|
0.00436
|
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_000053.4(ATP7B):c.3101A>G (p.His1034Arg)
|
rs74085882
|
0.00430
|
NM_000316.3(PTH1R):c.436C>A (p.Arg146=)
|
rs143863124
|
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_001303256.3(MORC2):c.1737+4C>T
|
rs5997814
|
0.00421
|
NM_003126.4(SPTA1):c.3398G>C (p.Arg1133Pro)
|
rs35733059
|
0.00420
|
NM_000254.3(MTR):c.155G>A (p.Arg52Gln)
|
rs12749581
|
0.00417
|
NM_000435.3(NOTCH3):c.4679G>C (p.Arg1560Pro)
|
rs78501403
|
0.00417
|
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_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_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_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_000642.3(AGL):c.3384G>A (p.Ala1128=)
|
rs149393587
|
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_001142864.4(PIEZO1):c.718A>G (p.Ile240Val)
|
rs114403731
|
0.00374
|
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_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_153676.4(USH1C):c.946G>C (p.Glu316Gln)
|
rs35336155
|
0.00366
|
NM_004656.4(BAP1):c.1729+8T>C
|
rs150945583
|
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_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_006005.3(WFS1):c.2327A>T (p.Glu776Val)
|
rs56002719
|
0.00354
|
NM_012073.5(CCT5):c.1059G>A (p.Leu353=)
|
rs114634318
|
0.00353
|
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_012186.3(FOXE3):c.898A>G (p.Ser300Gly)
|
rs552420470
|
0.00350
|
NM_031229.4(RBCK1):c.756+3G>A
|
rs146804136
|
0.00350
|
NM_000188.3(HK1):c.828G>A (p.Glu276=)
|
rs41279658
|
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_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_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_005529.7(HSPG2):c.1959A>C (p.Gln653His)
|
rs62642535
|
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_000398.7(CYB5R3):c.45A>G (p.Pro15=)
|
rs111649710
|
0.00329
|
NM_012186.3(FOXE3):c.601G>A (p.Val201Met)
|
rs530072475
|
0.00329
|
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg)
|
rs56380300
|
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_001142864.4(PIEZO1):c.3928G>A (p.Val1310Ile)
|
rs34606201
|
0.00322
|
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_021939.4(FKBP10):c.1307T>C (p.Ile436Thr)
|
rs61749879
|
0.00320
|
NM_147127.5(EVC2):c.2648C>T (p.Ala883Val)
|
rs140951974
|
0.00320
|
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_000093.5(COL5A1):c.278C>T (p.Ala93Val)
|
rs41306397
|
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_002103.5(GYS1):c.555C>T (p.Gly185=)
|
rs2229612
|
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_000540.3(RYR1):c.9685+16C>T
|
rs45496799
|
0.00312
|
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_153717.3(EVC):c.1127C>T (p.Ala376Val)
|
rs142535134
|
0.00309
|
NM_170707.4(LMNA):c.811-13T>A
|
rs80356809
|
0.00309
|
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_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_005529.7(HSPG2):c.10937G>A (p.Arg3646His)
|
rs112062179
|
0.00305
|
NM_000035.4(ALDOB):c.156T>G (p.Thr52=)
|
rs149671008
|
0.00302
|
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro)
|
rs145649423
|
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_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_031475.3(ESPN):c.1386A>G (p.Val462=)
|
rs150033799
|
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_024422.6(DSC2):c.1264-5C>T
|
rs183614856
|
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_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_020529.3(NFKBIA):c.581G>C (p.Gly194Ala)
|
rs148656104
|
0.00287
|
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_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)
|
rs60986317
|
0.00282
|
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His)
|
rs181104321
|
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_000057.4(BLM):c.1928G>A (p.Arg643His)
|
rs12720097
|
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_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_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_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_003476.5(CSRP3):c.10T>C (p.Trp4Arg)
|
rs45550635
|
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_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_001267550.2(TTN):c.55547T>C (p.Ile18516Thr)
|
rs146608896
|
0.00267
|
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu)
|
rs192129249
|
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_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_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_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_002230.4(JUP):c.2025T>C (p.His675=)
|
rs140670556
|
0.00259
|
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_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_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_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala)
|
rs147356378
|
0.00252
|
NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr)
|
rs72646882
|
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_001360.3(DHCR7):c.399C>T (p.Ala133=)
|
rs147424205
|
0.00248
|
NM_001853.4(COL9A3):c.1549-4C>A
|
rs190389066
|
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_000289.6(PFKM):c.1338G>A (p.Gly446=)
|
rs150378513
|
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_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser)
|
rs149547196
|
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_006231.4(POLE):c.4184A>G (p.Tyr1395Cys)
|
rs5744933
|
0.00240
|
NM_004444.5(EPHB4):c.1144G>A (p.Gly382Ser)
|
rs114926839
|
0.00239
|
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys)
|
rs72629785
|
0.00238
|
NM_000316.3(PTH1R):c.128G>A (p.Arg43His)
|
rs141466964
|
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_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_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_001037.5(SCN1B):c.267C>T (p.Arg89=)
|
rs140949982
|
0.00232
|
NM_002471.4(MYH6):c.1275C>T (p.Ile425=)
|
rs61742470
|
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_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_001142864.4(PIEZO1):c.4580G>A (p.Arg1527His)
|
rs148870219
|
0.00229
|
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys)
|
rs72677231
|
0.00229
|
NM_000069.3(CACNA1S):c.1711G>A (p.Val571Ile)
|
rs114191482
|
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_182925.5(FLT4):c.3908G>C (p.Gly1303Ala)
|
rs146806202
|
0.00227
|
NM_001267550.2(TTN):c.36509A>T (p.Glu12170Val)
|
rs200840285
|
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_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_006506.5(RASA2):c.1020+20G>A
|
rs113251297
|
0.00222
|
NM_001375808.2(LPIN2):c.1735T>C (p.Ser579Pro)
|
rs150022314
|
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_005529.7(HSPG2):c.9789C>A (p.Leu3263=)
|
rs137921473
|
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_014915.3(ANKRD26):c.2679A>G (p.Gln893=)
|
rs61730098
|
0.00215
|
NM_001267550.2(TTN):c.34505G>T (p.Gly11502Val)
|
rs190209925
|
0.00214
|
NM_000435.3(NOTCH3):c.2300G>A (p.Arg767His)
|
rs75291244
|
0.00213
|
NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro)
|
rs41268014
|
0.00213
|
NM_053025.4(MYLK):c.755-12C>T
|
rs138877679
|
0.00212
|
NM_001244008.2(KIF1A):c.3888C>T (p.Arg1296=)
|
rs144520412
|
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_000642.3(AGL):c.2522C>T (p.Ser841Phe)
|
rs150441555
|
0.00209
|
NM_001267550.2(TTN):c.54208A>C (p.Arg18070=)
|
rs138240658
|
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_004006.3(DMD):c.3970C>T (p.Arg1324Cys)
|
rs143184877
|
0.00208
|
NM_004356.4(CD81):c.414T>C (p.Asp138=)
|
rs143644902
|
0.00208
|
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_001267550.2(TTN):c.9077A>T (p.Asn3026Ile)
|
rs11900987
|
0.00205
|
NM_001999.4(FBN2):c.7471+6G>A
|
rs200998513
|
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_005548.3(KARS1):c.1258C>T (p.Arg420Cys)
|
rs77573084
|
0.00204
|
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_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_001267550.2(TTN):c.34307A>G (p.Lys11436Arg)
|
rs568554504
|
0.00195
|
NM_005529.7(HSPG2):c.4627-3del
|
rs368983547
|
0.00195
|
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_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_005340.7(HINT1):c.330C>T (p.His110=)
|
rs139624223
|
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_002471.4(MYH6):c.4320T>A (p.Ala1440=)
|
rs145566711
|
0.00189
|
NM_032119.4(ADGRV1):c.11201T>C (p.Val3734Ala)
|
rs113498662
|
0.00189
|
NM_002691.4(POLD1):c.378C>T (p.Arg126=)
|
rs145324823
|
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_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_000208.4(INSR):c.1080C>T (p.Cys360=)
|
rs56066516
|
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_000019.4(ACAT1):c.238+17C>T
|
rs199918672
|
0.00182
|
NM_001130823.3(DNMT1):c.150C>T (p.His50=)
|
rs146112081
|
0.00182
|
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg)
|
rs121908919
|
0.00180
|
NM_144687.4(NLRP12):c.2227A>C (p.Lys743Gln)
|
rs74373537
|
0.00180
|
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr)
|
rs145007501
|
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_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_000038.6(APC):c.-19+512G>A
|
rs550306841
|
0.00176
|
NM_001355436.2(SPTB):c.5463C>T (p.Pro1821=)
|
rs114513294
|
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_033118.4(MYLK2):c.508G>A (p.Glu170Lys)
|
rs145656924
|
0.00175
|
NM_001353214.3(DYM):c.1717C>T (p.Leu573=)
|
rs145279594
|
0.00174
|
NM_053013.4(ENO3):c.86-10C>T
|
rs201571802
|
0.00174
|
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_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_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_182961.4(SYNE1):c.25091C>T (p.Pro8364Leu)
|
rs148376885
|
0.00169
|
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_002878.4(RAD51D):c.568G>A (p.Ala190Thr)
|
rs80116829
|
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_000051.4(ATM):c.7788+8G>T
|
rs112775908
|
0.00165
|
NM_001009944.3(PKD1):c.3183G>A (p.Glu1061=)
|
rs148727945
|
0.00165
|
NM_002473.6(MYH9):c.4952T>C (p.Met1651Thr)
|
rs142094977
|
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_000071.3(CBS):c.1059G>A (p.Thr353=)
|
rs61735859
|
0.00162
|
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser)
|
rs11557600
|
0.00162
|
NM_000038.6(APC):c.120G>A (p.Glu40=)
|
rs142720069
|
0.00161
|
NM_001854.4(COL11A1):c.3729G>A (p.Gly1243=)
|
rs148395062
|
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_001458.5(FLNC):c.5644A>G (p.Ile1882Val)
|
rs184018403
|
0.00160
|
NM_004972.4(JAK2):c.3178-12_3178-11insC
|
rs533264615
|
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_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.64+17C>T
|
rs577170711
|
0.00156
|
NM_002335.4(LRP5):c.2295G>A (p.Ser765=)
|
rs140955013
|
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_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_014874.4(MFN2):c.1179G>A (p.Met393Ile)
|
rs12069578
|
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_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_000188.3(HK1):c.375+19C>T
|
rs202035445
|
0.00150
|
NM_001009944.3(PKD1):c.10325C>T (p.Ala3442Val)
|
rs144593342
|
0.00150
|
NM_001943.5(DSG2):c.166G>A (p.Val56Met)
|
rs121913013
|
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_006031.6(PCNT):c.4354G>A (p.Gly1452Arg)
|
rs143796569
|
0.00149
|
NM_000355.4(TCN2):c.138C>T (p.Ser46=)
|
rs143250551
|
0.00148
|
NM_002471.4(MYH6):c.2890G>T (p.Ala964Ser)
|
rs144907522
|
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_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_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_003924.4(PHOX2B):c.288C>G (p.Arg96=)
|
rs201892150
|
0.00145
|
NM_020433.5(JPH2):c.637C>T (p.Arg213Trp)
|
rs767328866
|
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_000316.3(PTH1R):c.1353+17C>T
|
rs202140438
|
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_001375808.2(LPIN2):c.991G>T (p.Ala331Ser)
|
rs80338805
|
0.00142
|
NM_001853.4(COL9A3):c.237G>A (p.Pro79=)
|
rs141960487
|
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_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_001457.4(FLNB):c.4929C>T (p.Ala1643=)
|
rs149070858
|
0.00140
|
NM_000089.4(COL1A2):c.3139G>A (p.Val1047Met)
|
rs35820023
|
0.00139
|
NM_001243133.2(NLRP3):c.1119G>A (p.Glu373=)
|
rs138613962
|
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_001458.5(FLNC):c.1577G>A (p.Arg526Gln)
|
rs34932223
|
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_001145809.2(MYH14):c.5573G>A (p.Arg1858His)
|
rs11882073
|
0.00137
|
NM_001267550.2(TTN):c.72782G>A (p.Arg24261Gln)
|
rs142874389
|
0.00137
|
NM_002439.5(MSH3):c.792+8G>A
|
rs147777411
|
0.00136
|
NM_003126.4(SPTA1):c.5378G>A (p.Arg1793Gln)
|
rs200938874
|
0.00136
|
NM_021830.5(TWNK):c.639C>T (p.Gly213=)
|
rs11542130
|
0.00135
|
NM_022041.4(GAN):c.1612+12A>G
|
rs150344737
|
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_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_001005373.4(LRSAM1):c.268G>A (p.Asp90Asn)
|
rs117692127
|
0.00133
|
NM_001267550.2(TTN):c.13202G>A (p.Arg4401Gln)
|
rs200431386
|
0.00133
|
NM_014920.5(CILK1):c.666T>C (p.Thr222=)
|
rs139739780
|
0.00133
|
NM_001267550.2(TTN):c.58869A>G (p.Lys19623=)
|
rs191066933
|
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_001457.4(FLNB):c.7360G>A (p.Val2454Ile)
|
rs146499414
|
0.00131
|
NM_002878.4(RAD51D):c.666A>G (p.Glu222=)
|
rs114012742
|
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_004360.5(CDH1):c.88C>A (p.Pro30Thr)
|
rs139866691
|
0.00129
|
NM_133379.5(TTN):c.14214C>T (p.Thr4738=)
|
rs147513899
|
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_001040716.2(PC):c.616G>T (p.Val206Leu)
|
rs147945506
|
0.00126
|
NM_004415.4(DSP):c.2346C>T (p.Asp782=)
|
rs139071827
|
0.00126
|
NM_144687.4(NLRP12):c.1731G>A (p.Lys577=)
|
rs73608454
|
0.00126
|
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_000091.5(COL4A3):c.2886C>T (p.Phe962=)
|
rs77846212
|
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_000548.5(TSC2):c.4195G>A (p.Gly1399Arg)
|
rs45466399
|
0.00122
|
NM_005529.7(HSPG2):c.11169C>T (p.Phe3723=)
|
rs139033413
|
0.00122
|
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys)
|
rs202162520
|
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_001386795.1(DTNA):c.1000G>A (p.Val334Met)
|
rs148123045
|
0.00120
|
NM_001458.5(FLNC):c.2180G>A (p.Arg727His)
|
rs200618242
|
0.00120
|
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val)
|
rs75789129
|
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_000152.5(GAA):c.1830C>T (p.Ala610=)
|
rs61736896
|
0.00118
|
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His)
|
rs72646808
|
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_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_016169.4(SUFU):c.600C>T (p.Ile200=)
|
rs149513330
|
0.00116
|
NM_000337.6(SGCD):c.213G>A (p.Arg71=)
|
rs74846539
|
0.00115
|
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_001355436.2(SPTB):c.4670A>G (p.Glu1557Gly)
|
rs140648376
|
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_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)
|
rs201043950
|
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_000059.4(BRCA2):c.1040A>G (p.Gln347Arg)
|
rs55800493
|
0.00109
|
NM_000478.6(ALPL):c.182-15C>G
|
rs201873253
|
0.00109
|
NM_005591.4(MRE11):c.426C>T (p.Asp142=)
|
rs3218740
|
0.00109
|
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_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_001103.4(ACTN2):c.1383C>T (p.Ile461=)
|
rs34827377
|
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_053025.4(MYLK):c.1007C>T (p.Pro336Leu)
|
rs35912339
|
0.00106
|
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_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_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe)
|
rs41305898
|
0.00104
|
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)
|
rs138327406
|
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_002691.4(POLD1):c.3054G>A (p.Val1018=)
|
rs369613619
|
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_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_001999.4(FBN2):c.3144C>T (p.Tyr1048=)
|
rs1801167
|
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_000548.5(TSC2):c.275A>T (p.Glu92Val)
|
rs137853994
|
0.00101
|
NM_001355436.2(SPTB):c.2060G>A (p.Arg687His)
|
rs3742602
|
0.00101
|
NM_003126.4(SPTA1):c.2655T>C (p.Arg885=)
|
rs368544526
|
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_001267550.2(TTN):c.1776T>C (p.Asp592=)
|
rs147081804
|
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_201596.3(CACNB2):c.1560T>C (p.Pro520=)
|
rs150280879
|
0.00099
|
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_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_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=)
|
rs56394008
|
0.00096
|
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly)
|
rs139139859
|
0.00096
|
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro)
|
rs185683410
|
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_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_000038.6(APC):c.7514G>A (p.Arg2505Gln)
|
rs147549623
|
0.00093
|
NM_000384.3(APOB):c.4838G>C (p.Ser1613Thr)
|
rs61742247
|
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_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_003239.5(TGFB3):c.293C>T (p.Ser98Leu)
|
rs142047577
|
0.00092
|
NM_000138.5(FBN1):c.783T>C (p.Asn261=)
|
rs113721547
|
0.00091
|
NM_000283.4(PDE6B):c.145G>T (p.Asp49Tyr)
|
rs79826315
|
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_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_001148.6(ANK2):c.4745G>A (p.Arg1582Gln)
|
rs138842207
|
0.00090
|
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu)
|
rs363831
|
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_003978.5(PSTPIP1):c.418-20A>G
|
rs545542379
|
0.00088
|
NM_006017.3(PROM1):c.714A>G (p.Gly238=)
|
rs201662148
|
0.00088
|
NM_053025.4(MYLK):c.3832-6C>T
|
rs185681684
|
0.00088
|
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_001844.5(COL2A1):c.507C>T (p.Pro169=)
|
rs143851987
|
0.00086
|
NM_005529.7(HSPG2):c.8381G>A (p.Arg2794Gln)
|
rs141563188
|
0.00086
|
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_001142864.4(PIEZO1):c.5874C>T (p.Thr1958=)
|
rs150214594
|
0.00084
|
NM_004655.4(AXIN2):c.1985T>C (p.Leu662Pro)
|
rs142476324
|
0.00084
|
NM_000238.4(KCNH2):c.51C>G (p.Thr17=)
|
rs144338227
|
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_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_014874.4(MFN2):c.1452G>A (p.Thr484=)
|
rs150043585
|
0.00083
|
NM_001037.5(SCN1B):c.351C>T (p.Gly117=)
|
rs3746255
|
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_000435.3(NOTCH3):c.1607-5C>A
|
rs372869012
|
0.00081
|
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)
|
rs200130356
|
0.00081
|
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=)
|
rs193022702
|
0.00081
|
NM_001999.4(FBN2):c.2427T>A (p.Ile809=)
|
rs139686090
|
0.00081
|
NM_001110556.2(FLNA):c.3805+16G>A
|
rs201016252
|
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_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_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_006254.4(PRKCD):c.315+9C>A
|
rs200076653
|
0.00078
|
NM_015046.7(SETX):c.192A>G (p.Leu64=)
|
rs117326462
|
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_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr)
|
rs370890951
|
0.00076
|
NM_000398.7(CYB5R3):c.471C>T (p.Phe157=)
|
rs149158903
|
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_001370466.1(NOD2):c.2474A>G (p.Asn825Ser)
|
rs104895467
|
0.00076
|
NM_001458.5(FLNC):c.6175G>A (p.Val2059Met)
|
rs201333104
|
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_000288.4(PEX7):c.339+10A>G
|
rs374668045
|
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_000059.4(BRCA2):c.1514T>C (p.Ile505Thr)
|
rs28897708
|
0.00074
|
NM_000530.8(MPZ):c.504G>A (p.Val168=)
|
rs145592910
|
0.00074
|
NM_001267550.2(TTN):c.55929A>G (p.Gln18643=)
|
rs151335428
|
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_001844.5(COL2A1):c.1913C>T (p.Thr638Ile)
|
rs41263847
|
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_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu)
|
rs1805125
|
0.00071
|
NM_001035.3(RYR2):c.1134C>T (p.Asp378=)
|
rs193922621
|
0.00071
|
NM_001184.4(ATR):c.2226T>C (p.Cys742=)
|
rs147895945
|
0.00071
|
NM_002890.3(RASA1):c.1394G>A (p.Arg465His)
|
rs181630831
|
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_021625.5(TRPV4):c.2472G>A (p.Ser824=)
|
rs149988106
|
0.00071
|
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_000088.4(COL1A1):c.3965G>A (p.Arg1322Lys)
|
rs138544681
|
0.00069
|
NM_001142864.4(PIEZO1):c.2685C>T (p.Asn895=)
|
rs533555270
|
0.00069
|
NM_002225.5(IVD):c.891G>A (p.Ala297=)
|
rs138427412
|
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_001854.4(COL11A1):c.489-7T>G
|
rs372555374
|
0.00068
|
NM_173477.5(USH1G):c.1012G>A (p.Gly338Arg)
|
rs151242039
|
0.00068
|
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_001130823.3(DNMT1):c.2472G>A (p.Thr824=)
|
rs45484792
|
0.00067
|
NM_001844.5(COL2A1):c.3384C>T (p.Gly1128=)
|
rs145884117
|
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_001267550.2(TTN):c.89386G>A (p.Val29796Met)
|
rs72648237
|
0.00066
|
NM_004006.3(DMD):c.4233+2C>T
|
rs147474070
|
0.00066
|
NM_005633.4(SOS1):c.3391+7A>G
|
rs201982464
|
0.00066
|
NM_002180.3(IGHMBP2):c.548-10T>G
|
rs139207271
|
0.00065
|
NM_002474.3(MYH11):c.633+1942T>C
|
rs199755371
|
0.00065
|
NM_005529.7(HSPG2):c.3794-3C>A
|
rs141000672
|
0.00065
|
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_001148.6(ANK2):c.8979A>G (p.Ile2993Met)
|
rs112252825
|
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_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_001844.5(COL2A1):c.3723C>T (p.Ala1241=)
|
rs200993187
|
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_001244008.2(KIF1A):c.4749C>T (p.Ser1583=)
|
rs371737085
|
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_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr)
|
rs191645600
|
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_001267550.2(TTN):c.59322A>G (p.Pro19774=)
|
rs188063446
|
0.00060
|
NM_001458.5(FLNC):c.1519G>A (p.Gly507Arg)
|
rs189525930
|
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_000179.3(MSH6):c.1508C>G (p.Ser503Cys)
|
rs63750897
|
0.00059
|
NM_000431.4(MVK):c.441C>T (p.Ala147=)
|
rs138342076
|
0.00059
|
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val)
|
rs200509641
|
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_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_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_004329.3(BMPR1A):c.1419T>G (p.Val473=)
|
rs145756629
|
0.00058
|
NM_022114.4(PRDM16):c.2603+6C>T
|
rs374549827
|
0.00058
|
NM_000037.4(ANK1):c.1467G>A (p.Leu489=)
|
rs148165519
|
0.00057
|
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser)
|
rs113663584
|
0.00057
|
NM_002474.3(MYH11):c.12G>A (p.Lys4=)
|
rs112650390
|
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_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_032043.3(BRIP1):c.430G>A (p.Ala144Thr)
|
rs116952709
|
0.00055
|
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_000138.5(FBN1):c.4683C>T (p.Ser1561=)
|
rs148024160
|
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_001130823.3(DNMT1):c.3492C>T (p.Cys1164=)
|
rs140951214
|
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_002472.3(MYH8):c.1731G>C (p.Glu577Asp)
|
rs75160168
|
0.00053
|
NM_002474.3(MYH11):c.3031T>C (p.Leu1011=)
|
rs112861184
|
0.00053
|
NM_006231.4(POLE):c.6495C>T (p.Arg2165=)
|
rs114778730
|
0.00053
|
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=)
|
rs138986228
|
0.00053
|
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_000071.3(CBS):c.829-14C>T
|
rs370697155
|
0.00051
|
NM_000095.3(COMP):c.218-7C>G
|
rs554031979
|
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_001035.3(RYR2):c.10941T>G (p.Pro3647=)
|
rs370332882
|
0.00051
|
NM_001110556.2(FLNA):c.6907+14G>T
|
rs199934017
|
0.00051
|
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu)
|
rs201571580
|
0.00051
|
NM_001366110.1(PAX4):c.116G>A (p.Arg39Gln)
|
rs115887120
|
0.00051
|
NM_001375808.2(LPIN2):c.1043C>T (p.Pro348Leu)
|
rs34676691
|
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_019844.4(SLCO1B3):c.1857A>T (p.Val619=)
|
rs143827641
|
0.00051
|
NM_021625.5(TRPV4):c.769C>G (p.Leu257Val)
|
rs56217500
|
0.00051
|
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_002230.4(JUP):c.1054+7A>T
|
rs371988639
|
0.00049
|
NM_004168.4(SDHA):c.723C>T (p.Asp241=)
|
rs146653693
|
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_001035.3(RYR2):c.3380A>G (p.Glu1127Gly)
|
rs200525962
|
0.00048
|
NM_001355436.2(SPTB):c.4075C>T (p.Arg1359Trp)
|
rs189656371
|
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_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_024426.6(WT1):c.1131T>C (p.Pro377=)
|
rs151034312
|
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_001110556.2(FLNA):c.3717C>T (p.Pro1239=)
|
rs372265042
|
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_003036.4(SKI):c.1734C>T (p.Ser578=)
|
rs117443908
|
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_000059.4(BRCA2):c.5879G>A (p.Cys1960Tyr)
|
rs56157628
|
0.00045
|
NM_001048174.2(MUTYH):c.914-9C>T
|
rs3219488
|
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_004004.6(GJB2):c.*1C>T
|
rs111033327
|
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_000342.4(SLC4A1):c.457C>A (p.Leu153Met)
|
rs145041032
|
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_000141.5(FGFR2):c.34G>A (p.Val12Met)
|
rs143978938
|
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_001267550.2(TTN):c.34856-17A>G
|
rs188686309
|
0.00043
|
NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu)
|
rs140382957
|
0.00043
|
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_001999.4(FBN2):c.7012+7G>A
|
rs199735209
|
0.00042
|
NM_000435.3(NOTCH3):c.3629G>A (p.Arg1210His)
|
rs35031555
|
0.00041
|
NM_000492.4(CFTR):c.3469-17T>C
|
rs199630678
|
0.00041
|
NM_001267550.2(TTN):c.79863G>A (p.Thr26621=)
|
rs186402008
|
0.00041
|
NM_001370466.1(NOD2):c.1693G>A (p.Val565Met)
|
rs148683734
|
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_021625.5(TRPV4):c.1491+10C>T
|
rs201815805
|
0.00041
|
NM_144687.4(NLRP12):c.2927+11G>A
|
rs376043494
|
0.00041
|
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_004006.3(DMD):c.2490C>T (p.Asn830=)
|
rs72468679
|
0.00040
|
NM_004281.4(BAG3):c.888C>T (p.His296=)
|
rs139399890
|
0.00040
|
NM_005529.7(HSPG2):c.4396-5C>T
|
rs117917442
|
0.00040
|
NM_053025.4(MYLK):c.3653-10_3653-8del
|
rs576620371
|
0.00040
|
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser)
|
rs181834806
|
0.00039
|
NM_000535.7(PMS2):c.1560G>A (p.Ala520=)
|
rs201167814
|
0.00039
|
NM_001267550.2(TTN):c.59319G>A (p.Glu19773=)
|
rs367622770
|
0.00039
|
NM_001876.4(CPT1A):c.336C>T (p.Thr112=)
|
rs61731902
|
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_000218.3(KCNQ1):c.1860C>T (p.His620=)
|
rs139893266
|
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_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_005184.4(CALM3):c.183C>T (p.Asn61=)
|
rs3729761
|
0.00038
|
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_001042492.3(NF1):c.731-6A>C
|
rs369366499
|
0.00037
|
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val)
|
rs200512504
|
0.00037
|
NM_032578.4(MYPN):c.1662A>C (p.Ala554=)
|
rs71584488
|
0.00037
|
NM_000435.3(NOTCH3):c.1194C>T (p.Gly398=)
|
rs140368657
|
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_002471.4(MYH6):c.4136C>T (p.Thr1379Met)
|
rs145611185
|
0.00036
|
NM_002474.3(MYH11):c.471C>T (p.Ile157=)
|
rs140267000
|
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_015046.7(SETX):c.5283A>G (p.Gln1761=)
|
rs139063885
|
0.00036
|
NM_024334.3(TMEM43):c.777C>T (p.His259=)
|
rs143958148
|
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_001844.5(COL2A1):c.4116C>T (p.Asn1372=)
|
rs150237416
|
0.00035
|
NM_000018.4(ACADVL):c.68G>A (p.Arg23Gln)
|
rs34153370
|
0.00034
|
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)
|
rs139552233
|
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_001145809.2(MYH14):c.2233-13C>A
|
rs368249273
|
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_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_147127.5(EVC2):c.1882G>A (p.Glu628Lys)
|
rs186197620
|
0.00034
|
NM_000037.4(ANK1):c.3668T>C (p.Val1223Ala)
|
rs185516533
|
0.00033
|
NM_001110556.2(FLNA):c.1044C>T (p.Pro348=)
|
rs375821223
|
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_001110556.2(FLNA):c.1716C>T (p.Thr572=)
|
rs201550267
|
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_007272.3(CTRC):c.110G>A (p.Arg37Gln)
|
rs145868278
|
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_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_001844.5(COL2A1):c.3327+3G>A
|
rs192229438
|
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_206933.4(USH2A):c.9915G>C (p.Glu3305Asp)
|
rs145278250
|
0.00031
|
NM_000093.5(COL5A1):c.3906+10C>T
|
rs183881247
|
0.00030
|
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=)
|
rs200787122
|
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_000238.4(KCNH2):c.2454G>A (p.Ser818=)
|
rs72549418
|
0.00029
|
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=)
|
rs116392938
|
0.00029
|
NM_001018005.2(TPM1):c.375-5T>C
|
rs377061868
|
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_001999.4(FBN2):c.4454A>G (p.Asp1485Gly)
|
rs199665922
|
0.00029
|
NM_002755.4(MAP2K1):c.848C>T (p.Ala283Val)
|
rs144080051
|
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_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_000038.6(APC):c.3511C>T (p.Arg1171Cys)
|
rs201830995
|
0.00028
|
NM_000435.3(NOTCH3):c.3523C>T (p.Arg1175Trp)
|
rs200504060
|
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_000548.5(TSC2):c.3744C>T (p.Ala1248=)
|
rs45517307
|
0.00027
|
NM_001105206.3(LAMA4):c.1158G>A (p.Glu386=)
|
rs147894075
|
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_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_000527.5(LDLR):c.1056C>T (p.Cys352=)
|
rs13306515
|
0.00026
|
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp)
|
rs45517328
|
0.00026
|
NM_001042492.3(NF1):c.7554C>G (p.Ala2518=)
|
rs141897690
|
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_002474.3(MYH11):c.914A>G (p.Asn305Ser)
|
rs185661462
|
0.00026
|
NM_004006.3(DMD):c.1252A>T (p.Thr418Ser)
|
rs201341211
|
0.00026
|
NM_053025.4(MYLK):c.1609G>A (p.Val537Ile)
|
rs199988497
|
0.00026
|
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg)
|
rs80358674
|
0.00025
|
NM_001142864.4(PIEZO1):c.5627G>A (p.Arg1876Lys)
|
rs201967733
|
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_000093.5(COL5A1):c.4393-19C>T
|
rs186732287
|
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_001145809.2(MYH14):c.3871G>T (p.Val1291Leu)
|
rs202242879
|
0.00024
|
NM_001267550.2(TTN):c.90624T>C (p.Asn30208=)
|
rs370479059
|
0.00024
|
NM_001395413.1(POR):c.1806+8G>A
|
rs72557952
|
0.00024
|
NM_001854.4(COL11A1):c.898-15T>C
|
rs200242905
|
0.00024
|
NM_005422.4(TECTA):c.1461A>G (p.Gly487=)
|
rs202127508
|
0.00024
|
NM_022787.4(NMNAT1):c.764G>A (p.Ser255Asn)
|
rs138626416
|
0.00024
|
NM_178335.3(CCDC50):c.1144G>A (p.Ala382Thr)
|
rs143628723
|
0.00024
|
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_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=)
|
rs138571942
|
0.00023
|
NM_004006.3(DMD):c.696C>G (p.Ile232Met)
|
rs145668843
|
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_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_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_004360.5(CDH1):c.33G>C (p.Leu11=)
|
rs730881654
|
0.00022
|
NM_006231.4(POLE):c.672C>T (p.Tyr224=)
|
rs376923206
|
0.00022
|
NM_053025.4(MYLK):c.5121C>T (p.Arg1707=)
|
rs144436556
|
0.00022
|
NM_000093.5(COL5A1):c.1440C>T (p.Pro480=)
|
rs150940930
|
0.00021
|
NM_000557.5(GDF5):c.979C>G (p.Leu327Val)
|
rs181772082
|
0.00021
|
NM_001457.4(FLNB):c.3898+19G>A
|
rs780062399
|
0.00021
|
NM_002047.4(GARS1):c.408A>G (p.Gln136=)
|
rs200279483
|
0.00021
|
NM_006005.3(WFS1):c.1309G>A (p.Gly437Ser)
|
rs147974629
|
0.00021
|
NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly)
|
rs111033396
|
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_001148.6(ANK2):c.3963T>C (p.Ile1321=)
|
rs72901936
|
0.00020
|
NM_001267550.2(TTN):c.14697C>T (p.Ser4899=)
|
rs372740215
|
0.00020
|
NM_003001.5(SDHC):c.120G>A (p.Arg40=)
|
rs36097930
|
0.00020
|
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp)
|
rs149322279
|
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_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_000138.5(FBN1):c.6705A>C (p.Gly2235=)
|
rs2229326
|
0.00019
|
NM_000256.3(MYBPC3):c.3285G>A (p.Thr1095=)
|
rs367927327
|
0.00019
|
NM_000717.5(CA4):c.258C>T (p.Asn86=)
|
rs185476073
|
0.00019
|
NM_001035.3(RYR2):c.1006-12C>T
|
rs367998175
|
0.00019
|
NM_001128840.3(CACNA1D):c.3297G>A (p.Thr1099=)
|
rs151094357
|
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_001358263.1(HK1):c.75+5186G>A
|
rs372970369
|
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_004304.5(ALK):c.487G>T (p.Val163Leu)
|
rs55697431
|
0.00019
|
NM_006231.4(POLE):c.2781C>T (p.Asn927=)
|
rs775486303
|
0.00019
|
NM_007294.4(BRCA1):c.1789G>A (p.Glu597Lys)
|
rs55650082
|
0.00019
|
NM_014920.5(CILK1):c.555G>A (p.Ala185=)
|
rs138668959
|
0.00019
|
NM_000038.6(APC):c.3374T>C (p.Val1125Ala)
|
rs377278397
|
0.00018
|
NM_000090.4(COL3A1):c.2805T>C (p.Pro935=)
|
rs111567071
|
0.00018
|
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr)
|
rs63749910
|
0.00018
|
NM_000546.6(TP53):c.1014C>T (p.Phe338=)
|
rs150293825
|
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_002230.4(JUP):c.1377G>T (p.Leu459=)
|
rs147370522
|
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_000059.4(BRCA2):c.10203G>A (p.Thr3401=)
|
rs147854265
|
0.00017
|
NM_000059.4(BRCA2):c.67+17T>C
|
rs767648965
|
0.00017
|
NM_000719.7(CACNA1C):c.1419C>T (p.Ser473=)
|
rs368065584
|
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_133379.5(TTN):c.15981G>A (p.Gln5327=)
|
rs186841908
|
0.00017
|
NM_000038.6(APC):c.6669A>G (p.Ser2223=)
|
rs372680843
|
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.1936A>G (p.Met646Val)
|
rs145741748
|
0.00016
|
NM_000548.5(TSC2):c.4493+17C>T
|
rs45517345
|
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_001267550.2(TTN):c.87771C>A (p.Gly29257=)
|
rs72648230
|
0.00016
|
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=)
|
rs117846737
|
0.00016
|
NM_002230.4(JUP):c.2178C>T (p.Ile726=)
|
rs141295561
|
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_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_006231.4(POLE):c.6597C>T (p.Ile2199=)
|
rs147611144
|
0.00016
|
NM_017617.5(NOTCH1):c.3288G>C (p.Val1096=)
|
rs374944458
|
0.00016
|
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp)
|
rs183489969
|
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_000243.3(MEFV):c.1518C>T (p.Ile506=)
|
rs104895099
|
0.00015
|
NM_001110556.2(FLNA):c.1812C>T (p.Asp604=)
|
rs370735674
|
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_006231.4(POLE):c.252C>T (p.Tyr84=)
|
rs148838481
|
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_000142.5(FGFR3):c.930+10C>T
|
rs534857289
|
0.00014
|
NM_000546.6(TP53):c.869G>A (p.Arg290His)
|
rs55819519
|
0.00014
|
NM_000719.7(CACNA1C):c.1002C>T (p.Pro334=)
|
rs112002520
|
0.00014
|
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=)
|
rs370868704
|
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_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_001844.5(COL2A1):c.1635C>T (p.Asn545=)
|
rs141321284
|
0.00014
|
NM_002474.3(MYH11):c.5160C>T (p.Ser1720=)
|
rs199564260
|
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_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_000138.5(FBN1):c.8232G>A (p.Gln2744=)
|
rs376119827
|
0.00013
|
NM_001142864.4(PIEZO1):c.4496-13C>T
|
rs543403418
|
0.00013
|
NM_001355436.2(SPTB):c.5943C>T (p.Arg1981=)
|
rs75000411
|
0.00013
|
NM_001999.4(FBN2):c.4902C>T (p.Pro1634=)
|
rs201071253
|
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_007294.4(BRCA1):c.1911T>C (p.Thr637=)
|
rs62625305
|
0.00013
|
NM_022367.4(SEMA4A):c.1694-13C>G
|
rs144540956
|
0.00013
|
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile)
|
rs80358479
|
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_000535.7(PMS2):c.1320A>G (p.Pro440=)
|
rs138697590
|
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_001159773.2(CANT1):c.632-15A>C
|
rs186671535
|
0.00012
|
NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr)
|
rs201817670
|
0.00012
|
NM_002769.5(PRSS1):c.390C>T (p.Thr130=)
|
rs561097415
|
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_000059.4(BRCA2):c.2680G>A (p.Val894Ile)
|
rs28897715
|
0.00011
|
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro)
|
rs56172926
|
0.00011
|
NM_000352.6(ABCC8):c.102G>A (p.Val34=)
|
rs189746511
|
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_001355436.2(SPTB):c.4511C>T (p.Ala1504Val)
|
rs200876438
|
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_005529.7(HSPG2):c.6927C>T (p.Tyr2309=)
|
rs552716935
|
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_024675.4(PALB2):c.2027T>C (p.Ile676Thr)
|
rs200875161
|
0.00011
|
NM_032043.3(BRIP1):c.249A>G (p.Gln83=)
|
rs45528833
|
0.00011
|
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_000179.3(MSH6):c.3245C>T (p.Pro1082Leu)
|
rs191109849
|
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_000441.2(SLC26A4):c.17G>T (p.Gly6Val)
|
rs111033423
|
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_001142864.4(PIEZO1):c.6705C>T (p.Phe2235=)
|
rs747798306
|
0.00010
|
NM_001148.6(ANK2):c.962G>A (p.Arg321Gln)
|
rs150226540
|
0.00010
|
NM_001355436.2(SPTB):c.1773C>G (p.Thr591=)
|
rs565667858
|
0.00010
|
NM_001370259.2(MEN1):c.1638G>A (p.Pro546=)
|
rs368783097
|
0.00010
|
NM_001498.4(GCLC):c.984A>T (p.Arg328=)
|
rs181411098
|
0.00010
|
NM_005529.7(HSPG2):c.4758C>T (p.Ala1586=)
|
rs374708543
|
0.00010
|
NM_017617.5(NOTCH1):c.390G>A (p.Pro130=)
|
rs61751559
|
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_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.4977C>T (p.Ser1659=)
|
rs45484897
|
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_000243.3(MEFV):c.198C>T (p.Ala66=)
|
rs149380763
|
0.00009
|
NM_000335.5(SCN5A):c.3951G>A (p.Glu1317=)
|
rs769473892
|
0.00009
|
NM_000371.4(TTR):c.354C>T (p.Asn118=)
|
rs11541797
|
0.00009
|
NM_000435.3(NOTCH3):c.4053C>T (p.Arg1351=)
|
rs927758025
|
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_001048174.2(MUTYH):c.612C>T (p.Thr204=)
|
rs780747266
|
0.00009
|
NM_001110556.2(FLNA):c.4533T>C (p.Tyr1511=)
|
rs191786597
|
0.00009
|
NM_001267550.2(TTN):c.57544+7dup
|
rs750881309
|
0.00009
|
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=)
|
rs147633551
|
0.00009
|
NM_002474.3(MYH11):c.5277C>T (p.Val1759=)
|
rs112564682
|
0.00009
|
NM_003036.4(SKI):c.897C>T (p.Arg299=)
|
rs773901705
|
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_022489.4(INF2):c.1499C>T (p.Pro500Leu)
|
rs561201601
|
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_000018.4(ACADVL):c.1182+17C>A
|
rs191276923
|
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_000093.5(COL5A1):c.5250G>A (p.Val1750=)
|
rs200348547
|
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_001035.3(RYR2):c.7608T>C (p.Ala2536=)
|
rs367987360
|
0.00008
|
NM_002485.5(NBN):c.38-19A>T
|
rs766849651
|
0.00008
|
NM_003978.5(PSTPIP1):c.-124C>T
|
rs760819203
|
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_053025.4(MYLK):c.3832-9C>T
|
rs200022087
|
0.00008
|
NM_170707.4(LMNA):c.471G>A (p.Thr157=)
|
rs150645079
|
0.00008
|
NM_000059.4(BRCA2):c.1167G>A (p.Pro389=)
|
rs148607710
|
0.00007
|
NM_000249.4(MLH1):c.42A>C (p.Thr14=)
|
rs369737664
|
0.00007
|
NM_000455.5(STK11):c.357C>T (p.Asn119=)
|
rs372511774
|
0.00007
|
NM_000891.3(KCNJ2):c.1080C>T (p.Asp360=)
|
rs66476803
|
0.00007
|
NM_001009944.3(PKD1):c.8305C>T (p.Leu2769Phe)
|
rs771382752
|
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_001243133.2(NLRP3):c.1665C>T (p.Asp555=)
|
rs151097783
|
0.00007
|
NM_001457.4(FLNB):c.1873G>A (p.Glu625Lys)
|
rs372998485
|
0.00007
|
NM_002755.4(MAP2K1):c.1068+18G>A
|
rs369137482
|
0.00007
|
NM_007294.4(BRCA1):c.593+3G>A
|
rs80358013
|
0.00007
|
NM_031206.7(LAS1L):c.1341A>G (p.Ala447=)
|
rs766767923
|
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_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_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr)
|
rs148216434
|
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_000142.5(FGFR3):c.272C>T (p.Pro91Leu)
|
rs144995231
|
0.00006
|
NM_000162.5(GCK):c.600G>A (p.Val200=)
|
rs773561406
|
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_000435.3(NOTCH3):c.120C>G (p.Ala40=)
|
rs146904189
|
0.00006
|
NM_000435.3(NOTCH3):c.1840+8C>T
|
rs372100017
|
0.00006
|
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys)
|
rs3738885
|
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_001048174.2(MUTYH):c.305-13C>G
|
rs201207780
|
0.00006
|
NM_001375808.2(LPIN2):c.608C>T (p.Ser203Phe)
|
rs144555528
|
0.00006
|
NM_003072.5(SMARCA4):c.1287G>A (p.Ala429=)
|
rs143600641
|
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_017668.3(NDE1):c.948-3126G>A
|
rs377410503
|
0.00006
|
NM_024334.3(TMEM43):c.802C>T (p.Arg268Trp)
|
rs201138253
|
0.00006
|
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.9738C>T (p.Ala3246=)
|
rs80359811
|
0.00005
|
NM_000179.3(MSH6):c.3399T>C (p.Thr1133=)
|
rs61748084
|
0.00005
|
NM_000257.4(MYH7):c.1323G>A (p.Thr441=)
|
rs397516096
|
0.00005
|
NM_000368.5(TSC1):c.1921C>T (p.Pro641Ser)
|
rs374222196
|
0.00005
|
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp)
|
rs45517333
|
0.00005
|
NM_000719.7(CACNA1C):c.5931C>T (p.Val1977=)
|
rs757236915
|
0.00005
|
NM_001035.3(RYR2):c.594C>T (p.Asn198=)
|
rs727504676
|
0.00005
|
NM_001114753.3(ENG):c.689+17G>A
|
rs773103359
|
0.00005
|
NM_001267550.2(TTN):c.4998A>T (p.Thr1666=)
|
rs139054950
|
0.00005
|
NM_002296.4(LBR):c.1324T>C (p.Leu442=)
|
rs61749338
|
0.00005
|
NM_002834.5(PTPN11):c.990A>C (p.Thr330=)
|
rs369739920
|
0.00005
|
NM_003036.4(SKI):c.994A>G (p.Ile332Val)
|
rs374264201
|
0.00005
|
NM_005359.6(SMAD4):c.1647A>G (p.Gln549=)
|
rs113545983
|
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_032578.4(MYPN):c.2925+20A>C
|
rs200111945
|
0.00005
|
NM_000051.4(ATM):c.-18G>A
|
rs374303671
|
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.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.7505G>A (p.Arg2502His)
|
rs56070345
|
0.00004
|
NM_000179.3(MSH6):c.3729A>G (p.Thr1243=)
|
rs773807182
|
0.00004
|
NM_000243.3(MEFV):c.948C>T (p.His316=)
|
rs150252937
|
0.00004
|
NM_000257.4(MYH7):c.12G>A (p.Ser4=)
|
rs45561941
|
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_000384.3(APOB):c.2047G>T (p.Ala683Ser)
|
rs761947252
|
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_000719.7(CACNA1C):c.1065G>A (p.Thr355=)
|
rs757055492
|
0.00004
|
NM_001005361.3(DNM2):c.1837G>A (p.Val613Met)
|
rs748286191
|
0.00004
|
NM_002474.3(MYH11):c.5379G>A (p.Gln1793=)
|
rs375230260
|
0.00004
|
NM_002524.5(NRAS):c.291-8G>A
|
rs376187980
|
0.00004
|
NM_003978.5(PSTPIP1):c.687C>T (p.Asn229=)
|
rs542286074
|
0.00004
|
NM_004360.5(CDH1):c.84C>T (p.Cys28=)
|
rs587780789
|
0.00004
|
NM_005359.6(SMAD4):c.1218G>A (p.Ala406=)
|
rs145097078
|
0.00004
|
NM_006182.4(DDR2):c.444T>C (p.Tyr148=)
|
rs774706415
|
0.00004
|
NM_007294.4(BRCA1):c.1470A>G (p.Pro490=)
|
rs775032066
|
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_080680.3(COL11A2):c.3974C>T (p.Ser1325Leu)
|
rs543145528
|
0.00004
|
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_000059.4(BRCA2):c.8010G>A (p.Ser2670=)
|
rs146430937
|
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_000518.5(HBB):c.-31C>T
|
rs63750628
|
0.00003
|
NM_001003800.2(BICD2):c.1725C>G (p.Pro575=)
|
rs201343832
|
0.00003
|
NM_001142864.4(PIEZO1):c.1207C>T (p.Arg403Trp)
|
rs536446748
|
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_004006.3(DMD):c.4373T>A (p.Phe1458Tyr)
|
rs777274879
|
0.00003
|
NM_007272.3(CTRC):c.356+7G>C
|
rs773334021
|
0.00003
|
NM_170707.4(LMNA):c.1381-13A>G
|
rs750192865
|
0.00003
|
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala)
|
rs372081834
|
0.00003
|
NM_000051.4(ATM):c.2085G>A (p.Leu695=)
|
rs786202229
|
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.2484T>C (p.Tyr828=)
|
rs45619134
|
0.00002
|
NM_000059.4(BRCA2):c.3916G>A (p.Val1306Ile)
|
rs80358636
|
0.00002
|
NM_000059.4(BRCA2):c.708T>C (p.His236=)
|
rs185506536
|
0.00002
|
NM_000249.4(MLH1):c.303T>G (p.Gly101=)
|
rs4647220
|
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_000518.5(HBB):c.170G>A (p.Gly57Asp)
|
rs34439278
|
0.00002
|
NM_001291415.2(KDM6A):c.4255G>A (p.Gly1419Arg)
|
rs370298215
|
0.00002
|
NM_003036.4(SKI):c.2013G>A (p.Gln671=)
|
rs1040803635
|
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.4676-7C>T
|
rs80358005
|
0.00002
|
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg)
|
rs80357322
|
0.00002
|
NM_016203.4(PRKAG2):c.138G>A (p.Pro46=)
|
rs767613486
|
0.00002
|
NM_170707.4(LMNA):c.1098G>A (p.Lys366=)
|
rs57901307
|
0.00002
|
NM_000051.4(ATM):c.372C>A (p.Ile124=)
|
rs773495195
|
0.00001
|
NM_000059.4(BRCA2):c.3672C>T (p.Gly1224=)
|
rs587780650
|
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.8331+14C>T
|
rs1287378096
|
0.00001
|
NM_000059.4(BRCA2):c.8352G>T (p.Arg2784=)
|
rs747664806
|
0.00001
|
NM_000059.4(BRCA2):c.8488-19G>A
|
rs398122607
|
0.00001
|
NM_000059.4(BRCA2):c.927A>G (p.Ser309=)
|
rs80359806
|
0.00001
|
NM_000093.5(COL5A1):c.2845-8G>A
|
rs775063630
|
0.00001
|
NM_000179.3(MSH6):c.2940A>G (p.Glu980=)
|
rs730881818
|
0.00001
|
NM_000179.3(MSH6):c.81C>G (p.Ala27=)
|
rs781496151
|
0.00001
|
NM_000243.3(MEFV):c.2166G>A (p.Val722=)
|
rs762351424
|
0.00001
|
NM_000371.4(TTR):c.70-16T>C
|
rs759512847
|
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_000548.5(TSC2):c.849-8A>G
|
rs765336852
|
0.00001
|
NM_001142864.4(PIEZO1):c.5619T>C (p.Phe1873=)
|
rs1433038327
|
0.00001
|
NM_001999.4(FBN2):c.2042G>A (p.Arg681His)
|
rs548605398
|
0.00001
|
NM_002474.3(MYH11):c.2997+10G>T
|
rs886051760
|
0.00001
|
NM_003482.4(KMT2D):c.10410G>T (p.Leu3470=)
|
rs747438612
|
0.00001
|
NM_005359.6(SMAD4):c.693C>T (p.Gly231=)
|
rs765597059
|
0.00001
|
NM_007294.4(BRCA1):c.3541G>A (p.Val1181Ile)
|
rs56336919
|
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.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.5456A>G (p.Asn1819Ser)
|
rs80357286
|
0.00001
|
NM_053025.4(MYLK):c.2388C>T (p.Leu796=)
|
rs193007255
|
0.00001
|
NM_000018.4(ACADVL):c.1434+14T>A
|
rs202217537
|
|
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup)
|
rs587780602
|
|
NM_000051.4(ATM):c.2148C>G (p.Val716=)
|
rs1800701
|
|
NM_000051.4(ATM):c.5005+17C>T
|
rs200688912
|
|
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs)
|
rs276174803
|
|
NM_000059.4(BRCA2):c.1166C>A (p.Pro389Gln)
|
rs397507263
|
|
NM_000059.4(BRCA2):c.5634C>T (p.Asn1878=)
|
rs80358784
|
|
NM_000059.4(BRCA2):c.6938-25_6938-19del
|
rs762815401
|
|
NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser)
|
rs80359165
|
|
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr)
|
rs55939572
|
|
NM_000077.5(CDKN2A):c.369T>A (p.His123Gln)
|
rs6413463
|
|
NM_000093.5(COL5A1):c.1224G>C (p.Thr408=)
|
rs139406076
|
|
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=)
|
rs141925790
|
|
NM_000141.5(FGFR2):c.2328C>T (p.Leu776=)
|
rs148478597
|
|
NM_000142.5(FGFR3):c.912C>G (p.Pro304=)
|
rs201012537
|
|
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_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup)
|
rs397515877
|
|
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>T (p.Pro364=)
|
rs11466022
|
|
NM_000251.3(MSH2):c.1387-14_1387-11del
|
rs370436680
|
|
NM_000260.4(MYO7A):c.133-7C>T
|
rs111033221
|
|
NM_000302.4(PLOD1):c.1903-14dup
|
rs748794198
|
|
NM_000311.3(PRNP):c.204_227del24 (p.Pro84_Gln91del)
|
rs193922906
|
|
NM_000346.4(SOX9):c.715A>C (p.Thr239Pro)
|
rs1275128261
|
|
NM_000352.6(ABCC8):c.2695-20G>A
|
|
|
NM_000355.4(TCN2):c.581-8A>G
|
rs7290898
|
|
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.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.9835A>G (p.Ser3279Gly)
|
|
|
NM_000435.3(NOTCH3):c.1607-14T>C
|
|
|
NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys)
|
|
|
NM_000478.6(ALPL):c.534C>T (p.Tyr178=)
|
rs201250289
|
|
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)
|
rs1800076
|
|
NM_000518.4(HBB):c.29C>G (p.Ser10Cys)
|
rs33918131
|
|
NM_000518.5(HBB):c.*56A>G
|
rs537944366
|
|
NM_000518.5(HBB):c.402G>C (p.Val134=)
|
rs113082294
|
|
NM_000527.5(LDLR):c.1836C>T (p.Ala612=)
|
rs143872778
|
|
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
|
|
|
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg)
|
rs45514196
|
|
NM_000548.5(TSC2):c.5094C>T (p.Ser1698=)
|
rs45514196
|
|
NM_000552.5(VWF):c.3692A>C (p.Asn1231Thr)
|
rs61749368
|
|
NM_000719.7(CACNA1C):c.1218-6C>T
|
rs727503833
|
|
NM_001006658.3(CR2):c.3189-8_3189-7del
|
rs112859639
|
|
NM_001009944.3(PKD1):c.5882C>T (p.Ala1961Val)
|
rs375440448
|
|
NM_001009944.3(PKD1):c.9924-9_9924-7del
|
rs892390487
|
|
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_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln)
|
rs111588143
|
|
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=)
|
rs121908380
|
|
NM_001110556.2(FLNA):c.3429C>G (p.Thr1143=)
|
rs183899917
|
|
NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=)
|
rs201904661
|
|
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr)
|
rs61753973
|
|
NM_001142864.4(PIEZO1):c.1917G>C (p.Leu639=)
|
|
|
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.2661C>T (p.Thr887=)
|
|
|
NM_001142864.4(PIEZO1):c.3626G>A (p.Arg1209Gln)
|
|
|
NM_001142864.4(PIEZO1):c.3699+20G>C
|
rs4424896
|
|
NM_001142864.4(PIEZO1):c.4316C>T (p.Ser1439Leu)
|
|
|
NM_001142864.4(PIEZO1):c.5139C>T (p.Leu1713=)
|
rs369279313
|
|
NM_001142864.4(PIEZO1):c.5340C>T (p.Asp1780=)
|
rs372159659
|
|
NM_001142864.4(PIEZO1):c.5515G>A (p.Glu1839Lys)
|
rs77170706
|
|
NM_001142864.4(PIEZO1):c.5636A>G (p.Glu1879Gly)
|
|
|
NM_001142864.4(PIEZO1):c.5743C>A (p.Arg1915Ser)
|
rs13338527
|
|
NM_001142864.4(PIEZO1):c.5778G>A (p.Arg1926=)
|
|
|
NM_001142864.4(PIEZO1):c.5991C>T (p.Asp1997=)
|
|
|
NM_001142864.4(PIEZO1):c.6494AGA[4] (p.Lys2169del)
|
rs763477215
|
|
NM_001142864.4(PIEZO1):c.6886A>C (p.Thr2296Pro)
|
|
|
NM_001204.7(BMPR2):c.621+37C>G
|
rs78779412
|
|
NM_001244008.2(KIF1A):c.204G>T (p.Ala68=)
|
rs141052770
|
|
NM_001267550.2(TTN):c.2775+19G>T
|
rs199707799
|
|
NM_001267550.2(TTN):c.60490G>C (p.Val20164Leu)
|
rs72646843
|
|
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.97760G>A (p.Arg32587His)
|
rs55704830
|
|
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro)
|
rs55704830
|
|
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_001360016.2(G6PD):c.1288-14TC[2]
|
rs199586268
|
|
NM_001363118.2(SLC52A2):c.353C>A (p.Ala118Asp)
|
rs117500243
|
|
NM_001366385.1(CARD14):c.599G>T (p.Ser200Ile)
|
rs114688446
|
|
NM_001375808.2(LPIN2):c.1169-7del
|
rs746626720
|
|
NM_001375808.2(LPIN2):c.1169-7dup
|
rs746626720
|
|
NM_001376.5(DYNC1H1):c.3015+18C>G
|
rs2749894
|
|
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup)
|
rs55889738
|
|
NM_001457.4(FLNB):c.1327G>C (p.Val443Leu)
|
rs200902568
|
|
NM_001457.4(FLNB):c.3163G>A (p.Val1055Met)
|
rs9813235
|
|
NM_001457.4(FLNB):c.4515-24GT[4]
|
rs151085835
|
|
NM_001458.5(FLNC):c.5042C>G (p.Thr1681Arg)
|
rs193159707
|
|
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu)
|
rs186233557
|
|
NM_001854.4(COL11A1):c.1792-39ATG[12]
|
rs71752747
|
|
NM_002485.5(NBN):c.1398-10dup
|
rs587780555
|
|
NM_002524.5(NRAS):c.451-21_451-19del
|
rs754048062
|
|
NM_002755.4(MAP2K1):c.1068+12_1068+15del
|
rs397516788
|
|
NM_002880.4(RAF1):c.1668+19G>T
|
rs5746245
|
|
NM_003000.2(SDHB):c.424-16_424-14dup
|
rs34261028
|
|
NM_003000.3(SDHB):c.424-37TTC[6]
|
rs34261028
|
|
NM_003126.4(SPTA1):c.121C>A (p.Arg41=)
|
rs121918640
|
|
NM_003126.4(SPTA1):c.4833G>A (p.Arg1611=)
|
rs145288947
|
|
NM_003126.4(SPTA1):c.4875+12C>T
|
rs139797540
|
|
NM_003126.4(SPTA1):c.6121-11del
|
rs548425429
|
|
NM_003126.4(SPTA1):c.6549-12G>A
|
rs857716
|
|
NM_003200.5(TCF3):c.888C>T (p.Ala296=)
|
rs34203855
|
|
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)
|
rs35766612
|
|
NM_003482.4(KMT2D):c.11202GCA[8] (p.Gln3745dup)
|
rs398123707
|
|
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr)
|
rs143711798
|
|
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del)
|
rs397516862
|
|
NM_003924.4(PHOX2B):c.741_758del (p.Ala255_Ala260del)
|
rs771383153
|
|
NM_003924.4(PHOX2B):c.765_779del (p.Ala256_Ala260del)
|
rs761018157
|
|
NM_004006.3(DMD):c.4744G>A (p.Val1582Ile)
|
rs398123965
|
|
NM_004333.6(BRAF):c.608+19G>C
|
rs200908826
|
|
NM_004863.4(SPTLC2):c.761G>C (p.Cys254Ser)
|
rs572378641
|
|
NM_004984.4(KIF5A):c.397-16_397-14del
|
rs375316447
|
|
NM_005159.5(ACTC1):c.616+5GT[4]
|
rs749539033
|
|
NM_005188.4(CBL):c.1365TGA[7] (p.Asp460dup)
|
rs397507494
|
|
NM_005334.3(HCFC1):c.4638C>T (p.Ala1546=)
|
|
|
NM_005475.3(SH2B3):c.733-11835T>C
|
|
|
NM_005529.7(HSPG2):c.11717G>A (p.Arg3906Gln)
|
rs78944354
|
|
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.8336G>A (p.Arg2779Gln)
|
rs529205824
|
|
NM_005633.4(SOS1):c.2167+16del
|
rs79984786
|
|
NM_005633.4(SOS1):c.225A>G (p.Gln75=)
|
rs560037748
|
|
NM_006005.3(WFS1):c.2387ACG[3] (p.Asp797dup)
|
rs397517197
|
|
NM_006005.3(WFS1):c.350C>T (p.Thr117Met)
|
rs141225426
|
|
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg)
|
rs5744971
|
|
NM_006258.4(PRKG1):c.546G>A (p.Gly182=)
|
rs73336216
|
|
NM_006579.3(EBP):c.-74+3G>C
|
rs188270695
|
|
NM_006767.4(LZTR1):c.1785+13_1785+33dup
|
|
|
NM_006790.3(MYOT):c.343G>A (p.Ala115Thr)
|
rs114194130
|
|
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del)
|
rs80358329
|
|
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.5198A>G (p.Asp1733Gly)
|
rs80357270
|
|
NM_007294.4(BRCA1):c.548-9del
|
rs273902774
|
|
NM_007294.4(BRCA1):c.5538G>A (p.Gln1846=)
|
rs80356849
|
|
NM_007294.4(BRCA1):c.81-13C>A
|
rs56328013
|
|
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser)
|
rs8176153
|
|
NM_014000.3(VCL):c.120C>T (p.Leu40=)
|
rs144080529
|
|
NM_014639.4(SKIC3):c.4497-14dup
|
rs755628334
|
|
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_016156.6(MTMR2):c.184_186del (p.Arg62del)
|
rs141498429
|
|
NM_016203.4(PRKAG2):c.1005+8G>C
|
rs1245068890
|
|
NM_017553.3(INO80):c.2644A>G (p.Ile882Val)
|
|
|
NM_017553.3(INO80):c.3323T>G (p.Val1108Gly)
|
|
|
NM_018979.4(WNK1):c.5542_5550del (p.Thr1848_Ser1850del)
|
rs544395150
|
|
NM_020631.6(PLEKHG5):c.43+14_43+20del
|
rs527883968
|
|
NM_021939.4(FKBP10):c.246-5C>G
|
rs140027863
|
|
NM_022124.6(CDH23):c.5130C>T (p.Ile1710=)
|
rs111033487
|
|
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs)
|
rs2066847
|
|
NM_024009.3(GJB3):c.109G>A (p.Val37Met)
|
rs148388884
|
|
NM_024422.6(DSC2):c.1350A>G (p.Arg450=)
|
rs144242114
|
|
NM_053025.4(MYLK):c.588+13_588+16del
|
rs570821069
|
|
NM_147127.5(EVC2):c.3272+8G>A
|
rs201800139
|
|
NM_153717.3(EVC):c.1528G>A (p.Val510Ile)
|
rs143971158
|
|
NM_153717.3(EVC):c.802-17TTC[4]
|
rs370315662
|
|
NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup)
|
rs35574083
|
|
NM_177438.3(DICER1):c.4254GGA[2] (p.Glu1420del)
|
rs544960260
|
|
NM_182916.3(TRNT1):c.810_811insAAACTT (p.Pro270_Ala271insLysLeu)
|
rs527331900
|
|
NM_194248.3(OTOF):c.510-7del
|
|
|
NM_201596.3(CACNB2):c.1670C>T (p.Ser557Leu)
|
rs137886839
|
|