NM_000053.4(ATP7B):c.3903+6C>T
|
rs2282057
|
0.53754
|
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala)
|
rs1801243
|
0.41549
|
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val)
|
rs3737515
|
0.25425
|
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
NM_052945.4(TNFRSF13C):c.62C>G (p.Pro21Arg)
|
rs77874543
|
0.05538
|
NM_000074.2(CD40LG):c.-191A>C
|
rs36206512
|
0.02791
|
NM_001430.5(EPAS1):c.1035-15T>C
|
rs116510029
|
0.02125
|
NM_001430.5(EPAS1):c.2511C>T (p.Pro837=)
|
rs35795449
|
0.01843
|
NM_014014.5(SNRNP200):c.5775C>G (p.Ala1925=)
|
rs72825880
|
0.01765
|
NM_003126.4(SPTA1):c.4453C>T (p.Leu1485Phe)
|
rs34973695
|
0.01729
|
NM_000492.4(CFTR):c.1584G>A (p.Glu528=)
|
rs1800095
|
0.01670
|
NM_001374353.1(GLI2):c.3892C>T (p.Pro1298Ser)
|
rs114376238
|
0.01651
|
NM_001002010.5(NT5C3A):c.91T>C (p.Phe31Leu)
|
rs72555707
|
0.01571
|
NM_000112.4(SLC26A2):c.*4391G>T
|
rs150508217
|
0.01531
|
NM_000642.3(AGL):c.112A>G (p.Thr38Ala)
|
rs35278779
|
0.01527
|
NM_006446.5(SLCO1B1):c.1200C>G (p.Phe400Leu)
|
rs59113707
|
0.01516
|
NM_000175.5(GPI):c.623T>C (p.Ile208Thr)
|
rs8191371
|
0.01437
|
NM_000447.3(PSEN2):c.185G>A (p.Arg62His)
|
rs58973334
|
0.01433
|
NM_003126.4(SPTA1):c.4490G>A (p.Gly1497Glu)
|
rs41273523
|
0.01332
|
NM_003126.4(SPTA1):c.2520G>C (p.Glu840Asp)
|
rs34577746
|
0.01305
|
NM_001142864.4(PIEZO1):c.2992-18G>A
|
rs190814667
|
0.01297
|
NM_000037.4(ANK1):c.654C>A (p.Asn218Lys)
|
rs61735313
|
0.01280
|
NM_138477.4(CDAN1):c.2836C>T (p.Arg946Trp)
|
rs114779238
|
0.01260
|
NM_138477.4(CDAN1):c.157C>T (p.Leu53=)
|
rs186189866
|
0.01218
|
NM_002863.5(PYGL):c.2416A>T (p.Ile806Leu)
|
rs34313873
|
0.01205
|
NM_001498.4(GCLC):c.1384C>T (p.Pro462Ser)
|
rs17883718
|
0.01172
|
NM_001177316.2(SLC34A3):c.539G>C (p.Gly180Ala)
|
rs35643193
|
0.01167
|
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys)
|
rs45562031
|
0.01150
|
NM_024577.4(SH3TC2):c.477T>A (p.Ser159=)
|
rs77574155
|
0.01137
|
NM_001142864.4(PIEZO1):c.4475G>A (p.Gly1492Asp)
|
rs8051003
|
0.01135
|
NM_006446.5(SLCO1B1):c.1463G>C (p.Gly488Ala)
|
rs59502379
|
0.01105
|
NM_178452.6(DNAAF1):c.1769C>T (p.Thr590Met)
|
rs34777958
|
0.01090
|
NM_000717.5(CA4):c.700G>A (p.Val234Ile)
|
rs117704637
|
0.01071
|
NM_020778.5(ALPK3):c.401G>A (p.Arg134His)
|
rs34407151
|
0.01062
|
NM_006721.4(ADK):c.726+11T>G
|
rs45529443
|
0.01033
|
NM_001379610.1(SPINK1):c.200G>A (p.Arg67His)
|
rs35523678
|
0.01028
|
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr)
|
rs11466045
|
0.01021
|
NM_000074.3(CD40LG):c.655G>A (p.Gly219Arg)
|
rs148594123
|
0.01015
|
NM_001142864.4(PIEZO1):c.6734G>A (p.Arg2245Gln)
|
rs2290901
|
0.01007
|
NM_006363.6(SEC23B):c.770C>T (p.Thr257Ile)
|
rs146917730
|
0.01006
|
NM_003126.4(SPTA1):c.3989G>T (p.Arg1330Ile)
|
rs34214405
|
0.00972
|
NM_019844.4(SLCO1B3):c.439A>G (p.Thr147Ala)
|
rs57585902
|
0.00971
|
NM_006446.5(SLCO1B1):c.733A>G (p.Ile245Val)
|
rs11045852
|
0.00969
|
NM_006446.5(SLCO1B1):c.728-17_728-14del
|
rs150936610
|
0.00968
|
NM_002180.3(IGHMBP2):c.223G>A (p.Ala75Thr)
|
rs2228206
|
0.00946
|
NM_017950.4(CCDC40):c.1123A>C (p.Lys375Gln)
|
rs61734951
|
0.00943
|
NM_003126.4(SPTA1):c.6559A>G (p.Lys2187Glu)
|
rs111980420
|
0.00939
|
NM_138477.4(CDAN1):c.3194G>A (p.Arg1065Gln)
|
rs61746356
|
0.00932
|
NM_145045.5(ODAD3):c.1501G>A (p.Gly501Ser)
|
rs77133587
|
0.00924
|
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)
|
rs33927012
|
0.00921
|
NM_001360016.2(G6PD):c.645-17C>T
|
rs5986875
|
0.00915
|
NM_019076.5(UGT1A8):c.855+63792G>C
|
rs114052958
|
0.00908
|
NM_181078.3(IL21R):c.-17+563G>A
|
rs117535117
|
0.00901
|
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile)
|
rs2229968
|
0.00898
|
NM_001142864.4(PIEZO1):c.748G>A (p.Val250Ile)
|
rs115486714
|
0.00895
|
NM_182961.4(SYNE1):c.10827A>C (p.Gln3609His)
|
rs79486252
|
0.00887
|
NM_001142864.4(PIEZO1):c.5828G>A (p.Arg1943Gln)
|
rs115799619
|
0.00868
|
NM_003126.4(SPTA1):c.6437A>G (p.Gln2146Arg)
|
rs138055271
|
0.00862
|
NM_020778.5(ALPK3):c.3362A>G (p.Gln1121Arg)
|
rs114132013
|
0.00860
|
NM_174936.4(PCSK9):c.1326C>T (p.Ala442=)
|
rs28362262
|
0.00856
|
NM_000037.4(ANK1):c.5544+91C>T
|
rs72638959
|
0.00849
|
NM_001142864.4(PIEZO1):c.998G>A (p.Arg333His)
|
rs139099911
|
0.00845
|
NM_000552.5(VWF):c.2900G>A (p.Gly967Asp)
|
rs141087261
|
0.00842
|
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln)
|
rs17159287
|
0.00833
|
NM_006446.5(SLCO1B1):c.1495A>G (p.Ile499Val)
|
rs74064213
|
0.00823
|
NM_003126.4(SPTA1):c.1958A>G (p.Tyr653Cys)
|
rs148912436
|
0.00813
|
NM_000398.7(CYB5R3):c.898G>A (p.Val300Ile)
|
rs61743746
|
0.00802
|
NM_001142864.4(PIEZO1):c.1702C>T (p.Leu568=)
|
rs114584865
|
0.00796
|
NM_001375808.2(LPIN2):c.-10+1313C>T
|
rs116643915
|
0.00793
|
NM_002439.5(MSH3):c.1567G>A (p.Glu523Lys)
|
rs34058399
|
0.00789
|
NM_170707.4(LMNA):c.438C>T (p.Ala146=)
|
rs80356805
|
0.00782
|
NM_014915.3(ANKRD26):c.3655G>A (p.Val1219Ile)
|
rs146819984
|
0.00781
|
NM_012144.4(DNAI1):c.1401+17G>A
|
rs138412741
|
0.00773
|
NM_006363.6(SEC23B):c.834+116A>G
|
rs113825530
|
0.00772
|
NM_006363.6(SEC23B):c.1743+168A>G
|
rs111951711
|
0.00771
|
NM_016239.4(MYO15A):c.2680C>T (p.Pro894Ser)
|
rs76707172
|
0.00765
|
NM_005142.3(CBLIF):c.193G>A (p.Gly65Arg)
|
rs11825834
|
0.00763
|
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His)
|
rs59887778
|
0.00758
|
NM_001355436.2(SPTB):c.1765G>A (p.Ala589Thr)
|
rs61459051
|
0.00757
|
NM_001081.4(CUBN):c.2594G>A (p.Ser865Asn)
|
rs138083522
|
0.00756
|
NM_022356.4(P3H1):c.611C>A (p.Pro204His)
|
rs77208721
|
0.00751
|
NM_001142864.4(PIEZO1):c.7529C>T (p.Pro2510Leu)
|
rs61745086
|
0.00748
|
NM_002838.5(PTPRC):c.1268C>T (p.Thr423Ile)
|
rs6696162
|
0.00748
|
NM_004744.5(LRAT):c.74T>A (p.Phe25Tyr)
|
rs75368761
|
0.00748
|
NM_198999.3(SLC26A5):c.-53-2A>G
|
rs116900495
|
0.00748
|
NM_000215.4(JAK3):c.2164G>A (p.Val722Ile)
|
rs3213409
|
0.00743
|
NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn)
|
rs61753611
|
0.00740
|
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile)
|
rs34150427
|
0.00734
|
NM_001142864.4(PIEZO1):c.5552C>T (p.Thr1851Met)
|
rs34370460
|
0.00731
|
NM_194248.3(OTOF):c.98G>A (p.Arg33Gln)
|
rs56332208
|
0.00731
|
NM_002506.3(NGF):c.214G>A (p.Val72Met)
|
rs11466110
|
0.00727
|
NM_000476.3(AK1):c.484G>A (p.Ala162Thr)
|
rs35902264
|
0.00726
|
NM_001291303.3(FAT4):c.12071G>A (p.Arg4024Gln)
|
rs28515675
|
0.00726
|
NM_004356.4(CD81):c.648+10C>T
|
rs34510250
|
0.00724
|
NM_052945.4(TNFRSF13C):c.191G>T (p.Gly64Val)
|
rs547352394
|
0.00722
|
NM_080860.4(RSPH1):c.650T>G (p.Leu217Trp)
|
rs138007679
|
0.00716
|
NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn)
|
rs179363896
|
0.00715
|
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys)
|
rs41549716
|
0.00708
|
NM_004984.4(KIF5A):c.396+14G>A
|
rs17119769
|
0.00700
|
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser)
|
rs77615401
|
0.00699
|
NM_019844.4(SLCO1B3):c.11A>G (p.His4Arg)
|
rs61612406
|
0.00698
|
NM_014874.4(MFN2):c.957C>T (p.Gly319=)
|
rs41278632
|
0.00690
|
NM_002769.5(PRSS1):c.40+34C>T
|
rs202051517
|
0.00687
|
NM_000162.5(GCK):c.645C>T (p.Tyr215=)
|
rs144723656
|
0.00682
|
NM_003126.4(SPTA1):c.3149C>T (p.Pro1050Leu)
|
rs116297260
|
0.00678
|
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val)
|
rs75220808
|
0.00678
|
NM_006363.6(SEC23B):c.1484G>A (p.Arg495His)
|
rs141588462
|
0.00677
|
NM_181078.3(IL21R):c.824G>A (p.Arg275Gln)
|
rs52822694
|
0.00673
|
NM_080680.3(COL11A2):c.1098G>A (p.Ala366=)
|
rs73741539
|
0.00672
|
NM_001498.4(GCLC):c.1524G>A (p.Thr508=)
|
rs17881359
|
0.00669
|
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys)
|
rs41303344
|
0.00668
|
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr)
|
rs111991705
|
0.00667
|
NM_000183.3(HADHB):c.830A>G (p.Lys277Arg)
|
rs57969630
|
0.00662
|
NM_019076.5(UGT1A8):c.855+63761A>G
|
rs56385016
|
0.00660
|
NM_017654.4(SAMD9):c.4733T>C (p.Ile1578Thr)
|
rs144380633
|
0.00655
|
NM_001142864.4(PIEZO1):c.6222C>T (p.Phe2074=)
|
rs34388120
|
0.00654
|
NM_015046.7(SETX):c.1957C>A (p.Gln653Lys)
|
rs116333061
|
0.00653
|
NM_000552.5(VWF):c.391G>A (p.Gly131Ser)
|
rs76505074
|
0.00651
|
NM_006073.4(TRDN):c.1538-13T>G
|
rs55704802
|
0.00651
|
NM_017950.4(CCDC40):c.1303G>A (p.Glu435Lys)
|
rs62000409
|
0.00649
|
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=)
|
rs115744476
|
0.00640
|
NM_000053.4(ATP7B):c.-54G>T
|
rs115564351
|
0.00634
|
NM_000637.5(GSR):c.1069A>G (p.Ile357Val)
|
rs75673983
|
0.00632
|
NM_133259.4(LRPPRC):c.58C>T (p.Leu20Phe)
|
rs184339274
|
0.00631
|
NM_006294.5(UQCRB):c.258+268G>A
|
rs145799884
|
0.00624
|
NM_002769.5(PRSS1):c.200+23C>T
|
rs112426474
|
0.00622
|
NM_012452.3(TNFRSF13B):c.61+10C>T
|
rs148297590
|
0.00621
|
NM_001114134.2(EPB42):c.1767C>A (p.His589Gln)
|
rs114354377
|
0.00619
|
NM_000243.3(MEFV):c.*9C>T
|
rs11466048
|
0.00618
|
NM_001277115.2(DNAH11):c.4598T>G (p.Ile1533Ser)
|
rs73682656
|
0.00615
|
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys)
|
rs56273463
|
0.00613
|
NM_002234.4(KCNA5):c.1733G>A (p.Arg578Lys)
|
rs12720445
|
0.00612
|
NM_005529.7(HSPG2):c.10045C>G (p.Leu3349Val)
|
rs75843082
|
0.00610
|
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe)
|
rs61749895
|
0.00606
|
NM_019844.4(SLCO1B3):c.108C>G (p.Phe36Leu)
|
rs79042365
|
0.00606
|
NM_006231.4(POLE):c.776G>A (p.Arg259His)
|
rs61732929
|
0.00604
|
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu)
|
rs36023150
|
0.00602
|
NM_018076.5(ODAD2):c.612T>A (p.Asp204Glu)
|
rs61729354
|
0.00602
|
NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn)
|
rs35493783
|
0.00602
|
NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile)
|
rs141159831
|
0.00600
|
NM_001142864.4(PIEZO1):c.7505A>G (p.Lys2502Arg)
|
rs34830861
|
0.00599
|
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr)
|
rs114026724
|
0.00598
|
NM_000143.4(FH):c.53C>T (p.Pro18Leu)
|
rs201887750
|
0.00597
|
NM_001267550.2(TTN):c.36126A>C (p.Glu12042Asp)
|
rs113231696
|
0.00597
|
NM_001291303.3(FAT4):c.4154T>C (p.Leu1385Ser)
|
rs139883132
|
0.00597
|
NM_019076.5(UGT1A8):c.855+63718G>A
|
rs61261057
|
0.00596
|
NM_002529.4(NTRK1):c.2272G>A (p.Ala758Thr)
|
rs62640939
|
0.00591
|
NM_000243.3(MEFV):c.1760-97G>A
|
rs11466044
|
0.00589
|
NM_001142800.2(EYS):c.7796A>G (p.His2599Arg)
|
rs74636274
|
0.00587
|
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser)
|
rs114832250
|
0.00587
|
NM_001267550.2(TTN):c.2270C>T (p.Pro757Leu)
|
rs116307796
|
0.00586
|
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg)
|
rs142645936
|
0.00585
|
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro)
|
rs28730852
|
0.00579
|
NM_001261428.3(LPIN1):c.45G>A (p.Ser15=)
|
rs145228255
|
0.00576
|
NM_001365088.1(SLC12A6):c.318C>T (p.Asp106=)
|
rs116086579
|
0.00575
|
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His)
|
rs73969684
|
0.00574
|
NM_002471.4(MYH6):c.2579G>A (p.Arg860His)
|
rs115845031
|
0.00573
|
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser)
|
rs113902911
|
0.00572
|
NM_000321.3(RB1):c.2521-11G>A
|
rs4151624
|
0.00570
|
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe)
|
rs141716975
|
0.00570
|
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr)
|
rs35196441
|
0.00569
|
NM_001972.4(ELANE):c.770C>T (p.Pro257Leu)
|
rs17216663
|
0.00569
|
NM_001142864.4(PIEZO1):c.4495+4C>T
|
rs140520334
|
0.00562
|
NM_001377.3(DYNC2H1):c.11726-10A>T
|
rs185916947
|
0.00561
|
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile)
|
rs34139502
|
0.00561
|
NM_001370466.1(NOD2):c.785A>G (p.Asn262Ser)
|
rs5743271
|
0.00557
|
NM_000719.7(CACNA1C):c.5139C>T (p.Asp1713=)
|
rs115216455
|
0.00556
|
NM_006129.5(BMP1):c.2234-20C>T
|
rs142089697
|
0.00555
|
NM_000297.4(PKD2):c.570G>T (p.Ala190=)
|
rs541702320
|
0.00554
|
NM_000384.3(APOB):c.905-15C>G
|
rs72653061
|
0.00554
|
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu)
|
rs189569984
|
0.00554
|
NM_001109809.5(ZFP57):c.1086T>C (p.Thr362=)
|
rs61730326
|
0.00553
|
NM_001109809.5(ZFP57):c.783C>T (p.Cys261=)
|
rs61730328
|
0.00553
|
NM_001369.3(DNAH5):c.5115-4G>T
|
rs141141086
|
0.00551
|
NM_001062.4(TCN1):c.925G>A (p.Val309Ile)
|
rs72550758
|
0.00549
|
NM_001278298.2(COL6A5):c.2006T>G (p.Val669Gly)
|
rs144238271
|
0.00545
|
NM_030943.4(AMN):c.773T>C (p.Leu258Ser)
|
rs190222721
|
0.00544
|
NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser)
|
rs142094773
|
0.00541
|
NM_001081.4(CUBN):c.6469A>G (p.Asn2157Asp)
|
rs144360241
|
0.00541
|
NM_004990.4(MARS1):c.2180G>A (p.Arg727Gln)
|
rs113808165
|
0.00541
|
NM_017866.6(TMEM70):c.684C>G (p.Asn228Lys)
|
rs35564486
|
0.00541
|
NM_182925.5(FLT4):c.3460G>A (p.Gly1154Arg)
|
rs75614493
|
0.00541
|
NM_000557.5(GDF5):c.349G>T (p.Ala117Ser)
|
rs151149144
|
0.00539
|
NM_000335.5(SCN5A):c.1743G>A (p.Ser581=)
|
rs41313687
|
0.00537
|
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val)
|
rs146496725
|
0.00537
|
NM_000532.5(PCCB):c.546G>A (p.Arg182=)
|
rs61598773
|
0.00533
|
NM_015512.5(DNAH1):c.6676A>G (p.Ile2226Val)
|
rs112505934
|
0.00533
|
NM_000517.6(HBA2):c.95+27C>T
|
rs558457816
|
0.00531
|
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu)
|
rs55866005
|
0.00531
|
NM_000208.4(INSR):c.1123+13G>T
|
rs72549236
|
0.00526
|
NM_001142864.4(PIEZO1):c.1723G>A (p.Val575Met)
|
rs187832410
|
0.00523
|
NM_001377229.1(DISP1):c.3287T>C (p.Met1096Thr)
|
rs144673025
|
0.00523
|
NM_001770.6(CD19):c.381G>A (p.Ser127=)
|
rs142342927
|
0.00523
|
NM_138477.4(CDAN1):c.1368-15G>A
|
rs74586882
|
0.00523
|
NM_001013703.4(EIF2AK4):c.4007A>G (p.Lys1336Arg)
|
rs35480871
|
0.00518
|
NM_000384.3(APOB):c.12794T>C (p.Val4265Ala)
|
rs61743502
|
0.00516
|
NM_005327.7(HADH):c.275T>G (p.Phe92Cys)
|
rs61735992
|
0.00516
|
NM_001378454.1(ALMS1):c.6752A>G (p.Asp2251Gly)
|
rs28730855
|
0.00515
|
NM_000254.3(MTR):c.1033G>A (p.Val345Ile)
|
rs145006491
|
0.00514
|
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn)
|
rs72677225
|
0.00512
|
NM_014639.4(SKIC3):c.4187A>G (p.Asn1396Ser)
|
rs116690692
|
0.00511
|
NM_024996.7(GFM1):c.568A>C (p.Met190Leu)
|
rs75450876
|
0.00510
|
NM_002863.5(PYGL):c.176C>T (p.Thr59Met)
|
rs150483902
|
0.00507
|
NM_030943.4(AMN):c.165G>A (p.Met55Ile)
|
rs61731158
|
0.00505
|
NM_001457.4(FLNB):c.3785G>C (p.Gly1262Ala)
|
rs111330368
|
0.00503
|
NM_001282225.2(ADA2):c.660C>T (p.Tyr220=)
|
rs2231487
|
0.00500
|
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His)
|
rs41316003
|
0.00500
|
NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp)
|
rs142775522
|
0.00499
|
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=)
|
rs76081119
|
0.00498
|
NM_001267550.2(TTN):c.91884A>T (p.Arg30628Ser)
|
rs144922355
|
0.00496
|
NM_001376013.1(EPB41):c.1700G>A (p.Gly567Asp)
|
rs138888144
|
0.00496
|
NM_203486.3(DLL3):c.1384G>A (p.Ala462Thr)
|
rs182454962
|
0.00494
|
NM_000053.4(ATP7B):c.*15C>T
|
rs73498144
|
0.00493
|
NM_018706.7(DHTKD1):c.1048A>G (p.Asn350Asp)
|
rs34716552
|
0.00493
|
NM_001972.4(ELANE):c.785C>T (p.Pro262Leu)
|
rs17216670
|
0.00492
|
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe)
|
rs114626713
|
0.00491
|
NM_006096.4(NDRG1):c.-18-2_-18-1del
|
rs371927413
|
0.00490
|
NM_001242957.3(MAK):c.1715T>C (p.Ile572Thr)
|
rs79544660
|
0.00488
|
NM_001457.4(FLNB):c.7099G>A (p.Val2367Ile)
|
rs115747856
|
0.00488
|
NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val)
|
rs140403186
|
0.00485
|
NM_001109809.5(ZFP57):c.112C>T (p.Arg38Trp)
|
rs114772002
|
0.00482
|
NM_019844.4(SLCO1B3):c.1347A>G (p.Ala449=)
|
rs79382866
|
0.00482
|
NM_000393.5(COL5A2):c.2769+19A>T
|
rs111609220
|
0.00481
|
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn)
|
rs116567963
|
0.00481
|
NM_002386.4(MC1R):c.425G>A (p.Arg142His)
|
rs11547464
|
0.00480
|
NM_003126.4(SPTA1):c.5834-15G>A
|
rs192889943
|
0.00480
|
NM_000071.3(CBS):c.531+11G>A
|
rs186114513
|
0.00479
|
NM_006363.6(SEC23B):c.1649G>A (p.Arg550Gln)
|
rs111572459
|
0.00474
|
NM_001142864.4(PIEZO1):c.7240G>A (p.Asp2414Asn)
|
rs58548913
|
0.00473
|
NM_001142864.4(PIEZO1):c.5694G>C (p.Glu1898Asp)
|
rs201829917
|
0.00472
|
NM_172201.2(KCNE2):c.25C>G (p.Gln9Glu)
|
rs16991652
|
0.00468
|
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys)
|
rs115321485
|
0.00466
|
NM_001148.6(ANK2):c.9061G>A (p.Ala3021Thr)
|
rs74348333
|
0.00465
|
NM_000476.3(AK1):c.44-16G>A
|
rs74522986
|
0.00464
|
NM_001297.5(CNGB1):c.-47A>G
|
rs186471030
|
0.00462
|
NM_001364905.1(LRBA):c.3826-5A>G
|
rs114629781
|
0.00462
|
NM_000243.3(MEFV):c.1356+31G>T
|
rs142775938
|
0.00459
|
NM_000243.3(MEFV):c.1760-4G>A
|
rs79662406
|
0.00459
|
NM_001127671.2(LIFR):c.2591+17T>C
|
rs73077453
|
0.00459
|
NM_012186.3(FOXE3):c.587G>C (p.Gly196Ala)
|
rs281865461
|
0.00458
|
NM_002878.4(RAD51D):c.695G>A (p.Arg232Gln)
|
rs28363283
|
0.00457
|
NM_006031.6(PCNT):c.9099+12G>A
|
rs140828051
|
0.00457
|
NM_003126.4(SPTA1):c.3160A>T (p.Thr1054Ser)
|
rs145054175
|
0.00453
|
NM_006904.7(PRKDC):c.10684T>A (p.Leu3562Met)
|
rs8178232
|
0.00453
|
NM_000311.5(PRNP):c.424G>A (p.Gly142Ser)
|
rs150351644
|
0.00451
|
NM_153717.3(EVC):c.469C>G (p.Pro157Ala)
|
rs146729456
|
0.00451
|
NM_001142864.4(PIEZO1):c.1199G>A (p.Arg400Gln)
|
rs139100986
|
0.00450
|
NM_001277115.2(DNAH11):c.9435G>A (p.Thr3145=)
|
rs72657379
|
0.00449
|
NM_000342.4(SLC4A1):c.12G>A (p.Leu4=)
|
rs115901854
|
0.00447
|
NM_002769.5(PRSS1):c.567T>C (p.Leu189=)
|
rs377124851
|
0.00444
|
NM_014822.4(SEC24D):c.2536A>G (p.Met846Val)
|
rs34510328
|
0.00443
|
NM_020631.6(PLEKHG5):c.2581C>T (p.Arg861Cys)
|
rs148560273
|
0.00443
|
NM_030973.4(MED25):c.1004C>T (p.Ala335Val)
|
rs145770066
|
0.00443
|
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=)
|
rs41300676
|
0.00441
|
NM_001377.3(DYNC2H1):c.7319C>T (p.Thr2440Met)
|
rs146569005
|
0.00441
|
NM_002234.4(KCNA5):c.929C>T (p.Pro310Leu)
|
rs17215402
|
0.00439
|
NM_000188.3(HK1):c.1515C>T (p.Asn505=)
|
rs140498607
|
0.00438
|
NM_019844.4(SLCO1B3):c.69C>T (p.Arg23=)
|
rs149944473
|
0.00438
|
NM_006031.6(PCNT):c.4285C>T (p.Arg1429Cys)
|
rs62224222
|
0.00437
|
NM_000552.5(VWF):c.1037C>T (p.Thr346Ile)
|
rs111971143
|
0.00436
|
NM_001134363.3(RBM20):c.2655+15A>G
|
rs187915202
|
0.00436
|
NM_002863.5(PYGL):c.1900G>C (p.Asp634His)
|
rs35026927
|
0.00435
|
NM_003126.4(SPTA1):c.6850G>A (p.Asp2284Asn)
|
rs138732899
|
0.00433
|
NM_021254.4(CFAP298):c.622G>A (p.Val208Met)
|
rs61735781
|
0.00433
|
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr)
|
rs151117904
|
0.00431
|
NM_020778.5(ALPK3):c.1522T>G (p.Cys508Gly)
|
rs114207635
|
0.00431
|
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg)
|
rs74085882
|
0.00430
|
NM_000316.3(PTH1R):c.436C>A (p.Arg146=)
|
rs143863124
|
0.00428
|
NM_001277115.2(DNAH11):c.9097A>G (p.Ile3033Val)
|
rs72657373
|
0.00428
|
NM_001142864.4(PIEZO1):c.4866G>A (p.Glu1622=)
|
rs60253125
|
0.00426
|
NM_002296.4(LBR):c.1609T>G (p.Ser537Ala)
|
rs80299691
|
0.00426
|
NM_003126.4(SPTA1):c.1078A>T (p.Thr360Ser)
|
rs34133563
|
0.00424
|
NM_018706.7(DHTKD1):c.1079T>C (p.Val360Ala)
|
rs147571909
|
0.00424
|
NM_000492.4(CFTR):c.-226G>T
|
rs73717525
|
0.00422
|
NM_001303256.3(MORC2):c.1737+4C>T
|
rs5997814
|
0.00421
|
NM_003126.4(SPTA1):c.3398G>C (p.Arg1133Pro)
|
rs35733059
|
0.00420
|
NM_020800.3(IFT80):c.371-10C>A
|
rs188321058
|
0.00420
|
NM_000254.3(MTR):c.155G>A (p.Arg52Gln)
|
rs12749581
|
0.00417
|
NM_000371.4(TTR):c.201-32C>T
|
rs189979926
|
0.00417
|
NM_000435.3(NOTCH3):c.4679G>C (p.Arg1560Pro)
|
rs78501403
|
0.00417
|
NM_015512.5(DNAH1):c.933C>T (p.Asp311=)
|
rs199505182
|
0.00414
|
NM_003051.4(SLC16A1):c.973A>G (p.Ile325Val)
|
rs116216229
|
0.00409
|
NM_005529.7(HSPG2):c.5756G>A (p.Arg1919His)
|
rs62642521
|
0.00408
|
NM_000037.4(ANK1):c.1506C>T (p.Ala502=)
|
rs34387324
|
0.00407
|
NM_001291303.3(FAT4):c.10853C>T (p.Thr3618Met)
|
rs111423173
|
0.00407
|
NM_001530.4(HIF1A):c.1253C>T (p.Thr418Ile)
|
rs41508050
|
0.00407
|
NM_024577.4(SH3TC2):c.1403C>T (p.Ala468Val)
|
rs6874630
|
0.00407
|
NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys)
|
rs151155518
|
0.00406
|
NM_001142864.4(PIEZO1):c.4439-15G>T
|
rs141469687
|
0.00406
|
NM_001943.5(DSG2):c.266A>G (p.Tyr89Cys)
|
rs2230232
|
0.00406
|
NM_005529.7(HSPG2):c.4132G>A (p.Glu1378Lys)
|
rs62642525
|
0.00406
|
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)
|
rs188164241
|
0.00405
|
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln)
|
rs72647894
|
0.00404
|
NM_021957.4(GYS2):c.2054T>C (p.Phe685Ser)
|
rs117474773
|
0.00404
|
NM_001142864.4(PIEZO1):c.3456-10G>A
|
rs188761308
|
0.00403
|
NM_005529.7(HSPG2):c.3847G>A (p.Val1283Ile)
|
rs62642527
|
0.00403
|
NM_000254.3(MTR):c.2815G>C (p.Gly939Arg)
|
rs113042166
|
0.00401
|
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=)
|
rs56169243
|
0.00400
|
NM_000022.4(ADA):c.425G>A (p.Arg142Gln)
|
rs61732239
|
0.00399
|
NM_003954.5(MAP3K14):c.2434-10G>A
|
rs34836788
|
0.00399
|
NM_001142864.4(PIEZO1):c.1281G>A (p.Ala427=)
|
rs146687530
|
0.00396
|
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr)
|
rs150170988
|
0.00396
|
NM_000188.3(HK1):c.691+13C>T
|
rs41279654
|
0.00393
|
NM_000254.3(MTR):c.669+20C>T
|
rs200305844
|
0.00392
|
NM_144687.4(NLRP12):c.910C>T (p.His304Tyr)
|
rs141245482
|
0.00392
|
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys)
|
rs35932623
|
0.00390
|
NM_001370466.1(NOD2):c.974A>G (p.His325Arg)
|
rs5743272
|
0.00389
|
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp)
|
rs28763902
|
0.00388
|
NM_000355.4(TCN2):c.89T>G (p.Leu30Arg)
|
rs116605132
|
0.00388
|
NM_000384.3(APOB):c.606A>T (p.Glu202Asp)
|
rs61746672
|
0.00387
|
NM_017553.3(INO80):c.2070+12T>A
|
rs111767851
|
0.00386
|
NM_203486.3(DLL3):c.409+61G>A
|
rs377405105
|
0.00384
|
NM_000642.3(AGL):c.3384G>A (p.Ala1128=)
|
rs149393587
|
0.00383
|
NM_001009944.3(PKD1):c.10234C>T (p.Pro3412Ser)
|
rs149605181
|
0.00383
|
NM_023036.6(DNAI2):c.949G>A (p.Ala317Thr)
|
rs145798624
|
0.00383
|
NM_001042492.3(NF1):c.-22G>C
|
rs556823296
|
0.00381
|
NM_001127671.2(LIFR):c.420G>A (p.Glu140=)
|
rs142475175
|
0.00380
|
NM_138477.4(CDAN1):c.2738A>T (p.Gln913Leu)
|
rs76947588
|
0.00380
|
NM_001142800.2(EYS):c.7578+18C>T
|
rs147210136
|
0.00376
|
NM_001142864.4(PIEZO1):c.718A>G (p.Ile240Val)
|
rs114403731
|
0.00374
|
NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp)
|
rs201472270
|
0.00373
|
NM_005529.7(HSPG2):c.3269G>A (p.Arg1090Gln)
|
rs78889849
|
0.00373
|
NM_017636.4(TRPM4):c.1682A>C (p.Asp561Ala)
|
rs56355369
|
0.00373
|
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser)
|
rs118203518
|
0.00372
|
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile)
|
rs141856116
|
0.00372
|
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser)
|
rs55980498
|
0.00372
|
NM_003850.3(SUCLA2):c.37G>A (p.Val13Met)
|
rs35201084
|
0.00371
|
NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr)
|
rs201593811
|
0.00370
|
NM_006129.5(BMP1):c.2234-12G>A
|
rs200787977
|
0.00370
|
NM_000074.2(CD40LG):c.-189A>C
|
rs184119101
|
0.00369
|
NM_174889.5(NDUFAF2):c.451G>A (p.Gly151Ser)
|
rs9885480
|
0.00369
|
NM_001498.4(GCLC):c.1563C>T (p.Asp521=)
|
rs2066509
|
0.00368
|
NM_003126.4(SPTA1):c.5911G>A (p.Asp1971Asn)
|
rs116466258
|
0.00367
|
NM_001035.3(RYR2):c.13566C>T (p.Val4522=)
|
rs57360419
|
0.00366
|
NM_002528.7(NTHL1):c.116-10C>G
|
rs3211970
|
0.00366
|
NM_017950.4(CCDC40):c.3424T>C (p.Ser1142Pro)
|
rs148900528
|
0.00366
|
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln)
|
rs35336155
|
0.00366
|
NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser)
|
rs187333111
|
0.00365
|
NM_017950.4(CCDC40):c.3349G>A (p.Glu1117Lys)
|
rs145595957
|
0.00365
|
NM_004656.4(BAP1):c.1729+8T>C
|
rs150945583
|
0.00364
|
NM_052854.4(CREB3L1):c.599A>T (p.Asp200Val)
|
rs187725533
|
0.00364
|
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)
|
rs4988345
|
0.00363
|
NM_019844.4(SLCO1B3):c.676C>G (p.Leu226Val)
|
rs115227445
|
0.00361
|
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
NM_201596.3(CACNB2):c.1488+13_1488+33dup
|
rs757040188
|
0.00361
|
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser)
|
rs148206382
|
0.00359
|
NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala)
|
rs141464488
|
0.00359
|
NM_001081.4(CUBN):c.1794C>T (p.Tyr598=)
|
rs140184467
|
0.00358
|
NM_001025295.3(IFITM5):c.91C>A (p.Pro31Thr)
|
rs146230729
|
0.00357
|
NM_001277115.2(DNAH11):c.5185C>T (p.Pro1729Ser)
|
rs144106494
|
0.00357
|
NM_020191.4(MRPS22):c.741C>G (p.His247Gln)
|
rs140631494
|
0.00357
|
NM_147127.5(EVC2):c.707-4G>A
|
rs113806963
|
0.00357
|
NM_000384.3(APOB):c.3383G>A (p.Arg1128His)
|
rs12713843
|
0.00356
|
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn)
|
rs74447004
|
0.00356
|
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys)
|
rs41303287
|
0.00356
|
NM_003978.5(PSTPIP1):c.1112C>T (p.Thr371Ile)
|
rs34908107
|
0.00355
|
NM_201596.3(CACNB2):c.873G>A (p.Leu291=)
|
rs138423466
|
0.00355
|
NM_000431.4(MVK):c.769-7T>G
|
rs104895331
|
0.00354
|
NM_001013703.4(EIF2AK4):c.2020C>T (p.Pro674Ser)
|
rs201342617
|
0.00354
|
NM_001379180.1(ESRRB):c.*1474T>C
|
rs188462546
|
0.00354
|
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val)
|
rs56002719
|
0.00354
|
NM_000098.3(CPT2):c.1763C>G (p.Ser588Cys)
|
rs1871748
|
0.00353
|
NM_002907.4(RECQL):c.1483G>C (p.Asp495His)
|
rs6499
|
0.00353
|
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val)
|
rs78042826
|
0.00353
|
NM_012073.5(CCT5):c.1059G>A (p.Leu353=)
|
rs114634318
|
0.00353
|
NM_000552.5(VWF):c.7940C>T (p.Thr2647Met)
|
rs61751302
|
0.00352
|
NM_001142864.4(PIEZO1):c.1297-6G>A
|
rs111945967
|
0.00352
|
NM_000459.5(TEK):c.1346A>G (p.Asn449Ser)
|
rs149684174
|
0.00351
|
NM_005529.7(HSPG2):c.2850T>C (p.Pro950=)
|
rs115322282
|
0.00351
|
NM_001195248.2(APTX):c.457A>G (p.Lys153Glu)
|
rs34634937
|
0.00350
|
NM_012186.3(FOXE3):c.898A>G (p.Ser300Gly)
|
rs552420470
|
0.00350
|
NM_031229.4(RBCK1):c.756+3G>A
|
rs146804136
|
0.00350
|
NM_138477.4(CDAN1):c.309G>T (p.Pro103=)
|
rs575562332
|
0.00350
|
NM_000188.3(HK1):c.828G>A (p.Glu276=)
|
rs41279658
|
0.00349
|
NM_000447.3(PSEN2):c.211C>T (p.Arg71Trp)
|
rs140501902
|
0.00349
|
NM_001105206.3(LAMA4):c.2810A>G (p.Glu937Gly)
|
rs35605307
|
0.00349
|
NM_182925.5(FLT4):c.1921C>T (p.Pro641Ser)
|
rs55667289
|
0.00349
|
NM_000208.4(INSR):c.2946-14T>C
|
rs138585749
|
0.00347
|
NM_000355.4(TCN2):c.877C>T (p.Leu293=)
|
rs45624233
|
0.00347
|
NM_005529.7(HSPG2):c.11294G>A (p.Ser3765Asn)
|
rs114223739
|
0.00347
|
NM_015046.7(SETX):c.472T>G (p.Leu158Val)
|
rs145438764
|
0.00347
|
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg)
|
rs34534613
|
0.00346
|
NM_002863.5(PYGL):c.424+6T>A
|
rs146741789
|
0.00346
|
NM_006231.4(POLE):c.5135C>T (p.Ala1712Val)
|
rs5744950
|
0.00346
|
NM_138477.4(CDAN1):c.237G>C (p.Ser79=)
|
rs180857061
|
0.00344
|
NM_182943.3(PLOD2):c.652A>G (p.Ile218Val)
|
rs145809663
|
0.00344
|
NM_000222.3(KIT):c.532G>A (p.Ala178Thr)
|
rs115585711
|
0.00342
|
NM_000342.4(SLC4A1):c.216G>T (p.Glu72Asp)
|
rs13306788
|
0.00342
|
NM_004637.6(RAB7A):c.495G>A (p.Ala165=)
|
rs146566121
|
0.00341
|
NM_000294.3(PHKG2):c.96-10G>T
|
rs74015042
|
0.00340
|
NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys)
|
rs5743277
|
0.00340
|
NM_000243.3(MEFV):c.333G>A (p.Gly111=)
|
rs61732425
|
0.00339
|
NM_001303256.3(MORC2):c.2747+5_2747+6del
|
rs67357185
|
0.00339
|
NM_080680.3(COL11A2):c.2186G>A (p.Arg729Gln)
|
rs61730262
|
0.00339
|
NM_001142864.4(PIEZO1):c.1072C>T (p.Leu358=)
|
rs145579632
|
0.00338
|
NM_004064.5(CDKN1B):c.577C>T (p.Leu193Phe)
|
rs73281150
|
0.00338
|
NM_005472.5(KCNE3):c.248G>A (p.Arg83His)
|
rs17215437
|
0.00338
|
NM_001009944.3(PKD1):c.12826C>T (p.Arg4276Trp)
|
rs114251396
|
0.00335
|
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=)
|
rs118126378
|
0.00334
|
NM_001267550.2(TTN):c.10114+5G>A
|
rs115985443
|
0.00334
|
NM_181426.2(CCDC39):c.1073C>T (p.Thr358Ile)
|
rs183413880
|
0.00334
|
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser)
|
rs199689193
|
0.00333
|
NM_005529.7(HSPG2):c.1959A>C (p.Gln653His)
|
rs62642535
|
0.00333
|
NM_006363.6(SEC23B):c.221+76A>G
|
rs183784857
|
0.00333
|
NM_133379.5(TTN):c.11741C>G (p.Thr3914Arg)
|
rs116593093
|
0.00333
|
NM_000142.5(FGFR3):c.1535-8G>T
|
rs111460786
|
0.00332
|
NM_133379.5(TTN):c.12067G>A (p.Gly4023Arg)
|
rs143253411
|
0.00332
|
NM_001277115.2(DNAH11):c.12521T>G (p.Leu4174Arg)
|
rs144474011
|
0.00330
|
NM_000398.7(CYB5R3):c.45A>G (p.Pro15=)
|
rs111649710
|
0.00329
|
NM_012186.3(FOXE3):c.601G>A (p.Val201Met)
|
rs530072475
|
0.00329
|
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys)
|
rs138490756
|
0.00328
|
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg)
|
rs56380300
|
0.00328
|
NM_001009944.3(PKD1):c.10304G>A (p.Arg3435Gln)
|
rs140189010
|
0.00328
|
NM_145045.5(ODAD3):c.254G>A (p.Arg85Gln)
|
rs143192349
|
0.00328
|
NM_000245.4(MET):c.2908C>T (p.Arg970Cys)
|
rs34589476
|
0.00327
|
NM_001142864.4(PIEZO1):c.5461G>A (p.Gly1821Ser)
|
rs78574543
|
0.00327
|
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn)
|
rs78727187
|
0.00327
|
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met)
|
rs143669458
|
0.00326
|
NM_003126.4(SPTA1):c.4477C>T (p.Arg1493Trp)
|
rs35237700
|
0.00325
|
NM_000038.6(APC):c.4420G>A (p.Ala1474Thr)
|
rs139387758
|
0.00324
|
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp)
|
rs143690392
|
0.00324
|
NM_001142864.4(PIEZO1):c.3928G>A (p.Val1310Ile)
|
rs34606201
|
0.00322
|
NM_019594.4(LRRC8A):c.1699G>A (p.Val567Met)
|
rs143836544
|
0.00321
|
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn)
|
rs137852783
|
0.00320
|
NM_000436.4(OXCT1):c.650G>T (p.Arg217Leu)
|
rs142383658
|
0.00320
|
NM_001177316.2(SLC34A3):c.1140C>T (p.Leu380=)
|
rs113568956
|
0.00320
|
NM_021939.4(FKBP10):c.1307T>C (p.Ile436Thr)
|
rs61749879
|
0.00320
|
NM_147127.5(EVC2):c.2648C>T (p.Ala883Val)
|
rs140951974
|
0.00320
|
NM_147127.5(EVC2):c.864C>T (p.Asn288=)
|
rs144730069
|
0.00320
|
NM_001006658.3(CR2):c.2611G>T (p.Val871Leu)
|
rs144572703
|
0.00319
|
NM_015512.5(DNAH1):c.569T>C (p.Ile190Thr)
|
rs61729450
|
0.00319
|
NM_001355436.2(SPTB):c.4699G>C (p.Asp1567His)
|
rs138126360
|
0.00318
|
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys)
|
rs35136134
|
0.00318
|
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu)
|
rs71534278
|
0.00318
|
NM_000238.4(KCNH2):c.542G>A (p.Arg181Gln)
|
rs41308954
|
0.00317
|
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln)
|
rs55762754
|
0.00317
|
NM_001377.3(DYNC2H1):c.8881G>A (p.Ala2961Thr)
|
rs199568537
|
0.00317
|
NM_015512.5(DNAH1):c.11136G>A (p.Arg3712=)
|
rs147264705
|
0.00317
|
NM_203486.3(DLL3):c.1307G>A (p.Arg436His)
|
rs199831437
|
0.00317
|
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys)
|
rs61733519
|
0.00316
|
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val)
|
rs41306397
|
0.00315
|
NM_000203.5(IDUA):c.1345C>A (p.His449Asn)
|
rs532731688
|
0.00315
|
NM_000398.7(CYB5R3):c.432C>T (p.Gly144=)
|
rs112669378
|
0.00315
|
NM_001267550.2(TTN):c.25921+20G>A
|
rs148460010
|
0.00315
|
NM_015512.5(DNAH1):c.1244A>G (p.Lys415Arg)
|
rs61729402
|
0.00315
|
NM_002103.5(GYS1):c.555C>T (p.Gly185=)
|
rs2229612
|
0.00314
|
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg)
|
rs115545935
|
0.00314
|
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln)
|
rs76646638
|
0.00314
|
NM_001267550.2(TTN):c.31847-17A>G
|
rs72650025
|
0.00313
|
NM_000440.3(PDE6A):c.1546C>G (p.Leu516Val)
|
rs61733362
|
0.00312
|
NM_000540.3(RYR1):c.9685+16C>T
|
rs45496799
|
0.00312
|
NM_138477.4(CDAN1):c.2263-5G>A
|
rs190802841
|
0.00311
|
NM_000089.4(COL1A2):c.122G>A (p.Arg41His)
|
rs139528613
|
0.00310
|
NM_003126.4(SPTA1):c.679G>A (p.Glu227Lys)
|
rs199598260
|
0.00310
|
NM_020975.6(RET):c.166C>A (p.Leu56Met)
|
rs145633958
|
0.00310
|
NM_000371.4(TTR):c.336+19G>A
|
rs75517067
|
0.00309
|
NM_018706.7(DHTKD1):c.209C>G (p.Ala70Gly)
|
rs34644609
|
0.00309
|
NM_138477.4(CDAN1):c.3666T>C (p.Thr1222=)
|
rs77191722
|
0.00309
|
NM_153717.3(EVC):c.1127C>T (p.Ala376Val)
|
rs142535134
|
0.00309
|
NM_170707.4(LMNA):c.811-13T>A
|
rs80356809
|
0.00309
|
NM_001297.5(CNGB1):c.1626C>T (p.Thr542=)
|
rs148735841
|
0.00308
|
NM_001277115.2(DNAH11):c.9935A>T (p.Asp3312Val)
|
rs72657389
|
0.00307
|
NM_003126.4(SPTA1):c.793A>G (p.Asn265Asp)
|
rs183647059
|
0.00307
|
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe)
|
rs139913632
|
0.00307
|
NM_000243.3(MEFV):c.-15C>G
|
rs11466015
|
0.00306
|
NM_001498.4(GCLC):c.1478-16C>A
|
rs185146268
|
0.00306
|
NM_001853.4(COL9A3):c.1427C>G (p.Pro476Arg)
|
rs142066316
|
0.00306
|
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val)
|
rs146920285
|
0.00306
|
NM_001277115.2(DNAH11):c.10391C>T (p.Thr3464Ile)
|
rs141112088
|
0.00305
|
NM_005529.7(HSPG2):c.10937G>A (p.Arg3646His)
|
rs112062179
|
0.00305
|
NM_000037.4(ANK1):c.5544+46G>A
|
rs114905632
|
0.00304
|
NM_006343.3(MERTK):c.2851G>A (p.Ala951Thr)
|
rs148261231
|
0.00304
|
NM_015512.5(DNAH1):c.8266G>A (p.Val2756Met)
|
rs61749019
|
0.00304
|
NM_000035.4(ALDOB):c.156T>G (p.Thr52=)
|
rs149671008
|
0.00302
|
NM_015512.5(DNAH1):c.1981A>G (p.Met661Val)
|
rs61734653
|
0.00302
|
NM_030777.4(SLC2A10):c.674G>A (p.Arg225His)
|
rs34295241
|
0.00302
|
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro)
|
rs145649423
|
0.00301
|
NM_005529.7(HSPG2):c.6724+50C>T
|
rs72866974
|
0.00301
|
NM_001039213.4(CEACAM16):c.738G>A (p.Thr246=)
|
rs199779296
|
0.00300
|
NM_001130823.3(DNMT1):c.891+8C>T
|
rs117294281
|
0.00299
|
NM_002615.7(SERPINF1):c.85-14C>T
|
rs200755661
|
0.00299
|
NM_003978.5(PSTPIP1):c.908C>T (p.Pro303Leu)
|
rs189773500
|
0.00298
|
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val)
|
rs55907433
|
0.00297
|
NM_024577.4(SH3TC2):c.238G>A (p.Ala80Thr)
|
rs112507765
|
0.00297
|
NM_001034850.3(RETREG1):c.607G>A (p.Val203Met)
|
rs143878016
|
0.00296
|
NM_001142864.4(PIEZO1):c.3667G>A (p.Val1223Ile)
|
rs185326407
|
0.00296
|
NM_001199397.3(NEK1):c.3222+64T>A
|
rs72691050
|
0.00296
|
NM_031475.3(ESPN):c.1386A>G (p.Val462=)
|
rs150033799
|
0.00296
|
NM_138477.4(CDAN1):c.1967C>G (p.Thr656Ser)
|
rs139202766
|
0.00296
|
NM_001267550.2(TTN):c.2765G>A (p.Arg922His)
|
rs56046320
|
0.00295
|
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His)
|
rs147390654
|
0.00294
|
NM_005591.4(MRE11):c.121G>A (p.Asp41Asn)
|
rs116679717
|
0.00293
|
NM_006231.4(POLE):c.16G>C (p.Gly6Arg)
|
rs202220778
|
0.00293
|
NM_000178.4(GSS):c.941C>T (p.Pro314Leu)
|
rs75863437
|
0.00292
|
NM_020778.5(ALPK3):c.1382G>A (p.Gly461Asp)
|
rs34409363
|
0.00292
|
NM_024422.6(DSC2):c.1264-5C>T
|
rs183614856
|
0.00292
|
NM_201596.3(CACNB2):c.804+653G>A
|
rs142899184
|
0.00292
|
NM_001370466.1(NOD2):c.485C>T (p.Thr162Met)
|
rs61755182
|
0.00291
|
NM_003126.4(SPTA1):c.1731G>T (p.Leu577Phe)
|
rs34211240
|
0.00291
|
NM_005529.7(HSPG2):c.9514-3C>T
|
rs114851424
|
0.00291
|
NM_001009944.3(PKD1):c.6488G>A (p.Arg2163Gln)
|
rs145217118
|
0.00290
|
NM_001267550.2(TTN):c.69716-5C>G
|
rs72646886
|
0.00290
|
NM_020661.4(AICDA):c.74G>A (p.Arg25His)
|
rs61730095
|
0.00289
|
NM_001291303.3(FAT4):c.4303A>G (p.Ile1435Val)
|
rs142747281
|
0.00288
|
NM_001322934.2(NFKB2):c.21+13G>A
|
rs199513883
|
0.00288
|
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg)
|
rs138428684
|
0.00288
|
NM_003114.5(SPAG1):c.1414A>G (p.Ile472Val)
|
rs373038988
|
0.00288
|
NM_138477.4(CDAN1):c.2067G>A (p.Ala689=)
|
rs147161012
|
0.00288
|
NM_020529.3(NFKBIA):c.581G>C (p.Gly194Ala)
|
rs148656104
|
0.00287
|
NM_147127.5(EVC2):c.122C>A (p.Pro41His)
|
rs544397395
|
0.00286
|
NM_001114134.2(EPB42):c.1279C>T (p.Arg427Cys)
|
rs45594632
|
0.00285
|
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu)
|
rs2285644
|
0.00284
|
NM_002471.4(MYH6):c.2071G>A (p.Val691Ile)
|
rs148915045
|
0.00284
|
NM_003978.5(PSTPIP1):c.236C>T (p.Ser79Phe)
|
rs77026017
|
0.00284
|
NM_000022.4(ADA):c.162G>A (p.Lys54=)
|
rs45557242
|
0.00282
|
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)
|
rs60986317
|
0.00282
|
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His)
|
rs181104321
|
0.00282
|
NM_003200.5(TCF3):c.1154G>A (p.Gly385Asp)
|
rs117006898
|
0.00282
|
NM_016373.4(WWOX):c.816G>T (p.Leu272Phe)
|
rs186745328
|
0.00280
|
NM_001184.4(ATR):c.7504-16A>G
|
rs111927479
|
0.00279
|
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala)
|
rs71524349
|
0.00279
|
NM_020366.4(RPGRIP1):c.218+13C>G
|
rs200225522
|
0.00279
|
NM_000057.4(BLM):c.1928G>A (p.Arg643His)
|
rs12720097
|
0.00278
|
NM_001369.3(DNAH5):c.299G>C (p.Gly100Ala)
|
rs144236383
|
0.00278
|
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=)
|
rs141423593
|
0.00278
|
NM_032578.4(MYPN):c.1079-18T>C
|
rs114932559
|
0.00278
|
NM_000053.4(ATP7B):c.4125-23G>A
|
rs201152941
|
0.00277
|
NM_001142864.4(PIEZO1):c.835G>A (p.Gly279Ser)
|
rs188815734
|
0.00277
|
NM_003640.5(ELP1):c.286A>G (p.Ser96Gly)
|
rs35942802
|
0.00277
|
NM_145045.5(ODAD3):c.1203G>A (p.Arg401=)
|
rs199934107
|
0.00277
|
NM_000152.5(GAA):c.1552-13G>A
|
rs111261964
|
0.00276
|
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln)
|
rs62646862
|
0.00276
|
NM_001365088.1(SLC12A6):c.271+17825C>T
|
rs150751809
|
0.00276
|
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu)
|
rs34120922
|
0.00276
|
NM_003172.4(SURF1):c.54+10G>A
|
rs587598397
|
0.00276
|
NM_182961.4(SYNE1):c.2177A>G (p.Glu726Gly)
|
rs35297226
|
0.00276
|
NM_014845.6(FIG4):c.173A>G (p.Tyr58Cys)
|
rs145337669
|
0.00275
|
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val)
|
rs145207584
|
0.00275
|
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu)
|
rs34004222
|
0.00274
|
NM_006343.3(MERTK):c.2593C>T (p.Arg865Trp)
|
rs2230516
|
0.00274
|
NM_001018005.2(TPM1):c.180C>T (p.Tyr60=)
|
rs17850194
|
0.00273
|
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys)
|
rs58241708
|
0.00272
|
NM_016938.5(EFEMP2):c.368-11G>A
|
rs181514768
|
0.00272
|
NM_181078.3(IL21R):c.1545C>G (p.Pro515=)
|
rs74016079
|
0.00272
|
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg)
|
rs45550635
|
0.00271
|
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=)
|
rs138198461
|
0.00271
|
NM_002439.5(MSH3):c.2511G>A (p.Leu837=)
|
rs149628160
|
0.00270
|
NM_018979.4(WNK1):c.5583+3A>G
|
rs72650758
|
0.00270
|
NM_147127.5(EVC2):c.3659+8T>C
|
rs200119306
|
0.00270
|
NM_001457.4(FLNB):c.362A>T (p.Tyr121Phe)
|
rs147846832
|
0.00269
|
NM_002778.4(PSAP):c.16C>T (p.Leu6Phe)
|
rs148279196
|
0.00269
|
NM_014391.3(ANKRD1):c.319G>T (p.Val107Leu)
|
rs114435632
|
0.00269
|
NM_018979.4(WNK1):c.5281-4G>A
|
rs72650740
|
0.00269
|
NM_000051.4(ATM):c.7630-17T>C
|
rs116047570
|
0.00268
|
NM_006182.4(DDR2):c.1382C>T (p.Ser461Leu)
|
rs140710321
|
0.00268
|
NM_194248.3(OTOF):c.2215-80T>C
|
rs143141993
|
0.00268
|
NM_000384.3(APOB):c.8462C>T (p.Pro2821Leu)
|
rs72653095
|
0.00267
|
NM_001009944.3(PKD1):c.8119G>A (p.Val2707Met)
|
rs139507058
|
0.00267
|
NM_001244008.2(KIF1A):c.3816+18C>T
|
rs201725464
|
0.00267
|
NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr)
|
rs146608896
|
0.00267
|
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile)
|
rs188807564
|
0.00267
|
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu)
|
rs192129249
|
0.00267
|
NM_024753.5(TTC21B):c.3416T>C (p.Val1139Ala)
|
rs149454830
|
0.00267
|
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser)
|
rs141330687
|
0.00267
|
NM_006899.5(IDH3B):c.74G>A (p.Gly25Asp)
|
rs113021673
|
0.00266
|
NM_001358263.1(HK1):c.53T>C (p.Leu18Pro)
|
rs79002951
|
0.00265
|
NM_006031.6(PCNT):c.1784C>T (p.Ala595Val)
|
rs143028464
|
0.00265
|
NM_019844.4(SLCO1B3):c.1614T>C (p.Val538=)
|
rs77851390
|
0.00265
|
NM_144687.4(NLRP12):c.2701G>C (p.Val901Leu)
|
rs104895568
|
0.00265
|
NM_003126.4(SPTA1):c.5838T>C (p.Asp1946=)
|
rs200330662
|
0.00264
|
NM_014639.4(SKIC3):c.4344A>G (p.Leu1448=)
|
rs139074002
|
0.00264
|
NM_000557.5(GDF5):c.388G>A (p.Gly130Arg)
|
rs114550865
|
0.00263
|
NM_001267550.2(TTN):c.70952T>G (p.Ile23651Ser)
|
rs149075285
|
0.00263
|
NM_022041.4(GAN):c.1502+11A>G
|
rs143413333
|
0.00263
|
NM_001876.4(CPT1A):c.302C>T (p.Thr101Met)
|
rs61731903
|
0.00262
|
NM_000037.4(ANK1):c.5097-34C>T
|
rs185434561
|
0.00261
|
NM_001267550.2(TTN):c.64762G>A (p.Gly21588Arg)
|
rs181717727
|
0.00261
|
NM_005529.7(HSPG2):c.7511G>A (p.Arg2504His)
|
rs62642517
|
0.00261
|
NM_012452.3(TNFRSF13B):c.215G>A (p.Arg72His)
|
rs55916807
|
0.00261
|
NM_001457.4(FLNB):c.292+14C>G
|
rs200721532
|
0.00260
|
NM_003482.4(KMT2D):c.6629C>T (p.Pro2210Leu)
|
rs201190869
|
0.00260
|
NM_000090.4(COL3A1):c.3039+16T>G
|
rs41264443
|
0.00259
|
NM_000431.4(MVK):c.238G>A (p.Val80Ile)
|
rs76914224
|
0.00259
|
NM_001903.5(CTNNA1):c.655C>T (p.Pro219Ser)
|
rs28363406
|
0.00259
|
NM_002230.4(JUP):c.2025T>C (p.His675=)
|
rs140670556
|
0.00259
|
NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile)
|
rs143157673
|
0.00258
|
NM_001077350.3(NPRL3):c.1024G>T (p.Val342Leu)
|
rs11558704
|
0.00258
|
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=)
|
rs72646890
|
0.00258
|
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile)
|
rs62641689
|
0.00258
|
NM_006182.4(DDR2):c.1504+11T>C
|
rs77385055
|
0.00258
|
NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser)
|
rs41281310
|
0.00258
|
NM_133379.5(TTN):c.16160G>A (p.Cys5387Tyr)
|
rs72648913
|
0.00258
|
NM_000517.6(HBA2):c.300+64A>G
|
rs111264741
|
0.00257
|
NM_002972.4(SBF1):c.1668T>C (p.His556=)
|
rs139208738
|
0.00257
|
NM_006031.6(PCNT):c.3748C>T (p.Arg1250Trp)
|
rs117987006
|
0.00257
|
NM_000541.5(SAG):c.734-18C>A
|
rs139840815
|
0.00256
|
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser)
|
rs138824667
|
0.00256
|
NM_001267550.2(TTN):c.88708A>G (p.Ile29570Val)
|
rs139506970
|
0.00255
|
NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr)
|
rs202233363
|
0.00255
|
NM_014874.4(MFN2):c.1403G>A (p.Arg468His)
|
rs138382758
|
0.00255
|
NM_000018.4(ACADVL):c.1839G>A (p.Arg613=)
|
rs79125791
|
0.00254
|
NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr)
|
rs114015043
|
0.00254
|
NM_000037.4(ANK1):c.981C>T (p.Tyr327=)
|
rs61758867
|
0.00253
|
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly)
|
rs72648273
|
0.00253
|
NM_002691.4(POLD1):c.433G>A (p.Ala145Thr)
|
rs137953986
|
0.00253
|
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe)
|
rs150821281
|
0.00252
|
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala)
|
rs147356378
|
0.00252
|
NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr)
|
rs72646882
|
0.00252
|
NM_002972.4(SBF1):c.898-18G>A
|
rs369814596
|
0.00252
|
NM_005548.3(KARS1):c.1674C>T (p.Leu558=)
|
rs143267922
|
0.00252
|
NM_022114.4(PRDM16):c.100G>A (p.Ala34Thr)
|
rs187194973
|
0.00252
|
NM_001267550.2(TTN):c.97490T>C (p.Ile32497Thr)
|
rs55660660
|
0.00251
|
NM_001854.4(COL11A1):c.4185C>T (p.Val1395=)
|
rs112577505
|
0.00251
|
NM_024301.5(FKRP):c.822C>G (p.Ile274Met)
|
rs77138370
|
0.00251
|
NM_001267550.2(TTN):c.83740A>G (p.Thr27914Ala)
|
rs188370772
|
0.00250
|
NM_002335.4(LRP5):c.4278T>C (p.Tyr1426=)
|
rs142328132
|
0.00250
|
NM_006031.6(PCNT):c.9707G>A (p.Arg3236Gln)
|
rs113591604
|
0.00249
|
NM_001360.3(DHCR7):c.399C>T (p.Ala133=)
|
rs147424205
|
0.00248
|
NM_002615.7(SERPINF1):c.202G>C (p.Val68Leu)
|
rs143827025
|
0.00248
|
NM_025132.4(WDR19):c.3183+9G>A
|
rs138318063
|
0.00248
|
NM_001853.4(COL9A3):c.1549-4C>A
|
rs190389066
|
0.00247
|
NM_002661.5(PLCG2):c.3414A>G (p.Glu1138=)
|
rs61755443
|
0.00247
|
NM_022489.4(INF2):c.2458C>T (p.Arg820Trp)
|
rs79327775
|
0.00247
|
NM_000051.4(ATM):c.2921+19dup
|
rs56112367
|
0.00245
|
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile)
|
rs28385141
|
0.00245
|
NM_001127671.2(LIFR):c.2447A>G (p.Asp816Gly)
|
rs74856317
|
0.00245
|
NM_017950.4(CCDC40):c.334A>G (p.Thr112Ala)
|
rs201709592
|
0.00245
|
NM_000289.6(PFKM):c.1338G>A (p.Gly446=)
|
rs150378513
|
0.00243
|
NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys)
|
rs145040928
|
0.00243
|
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln)
|
rs199895260
|
0.00243
|
NM_001711.6(BGN):c.357C>T (p.Leu119=)
|
rs146322407
|
0.00243
|
NM_003072.5(SMARCA4):c.2275-3C>A
|
rs117611401
|
0.00243
|
NM_003126.4(SPTA1):c.4302G>A (p.Lys1434=)
|
rs77182042
|
0.00243
|
NM_005529.7(HSPG2):c.10677C>T (p.Asn3559=)
|
rs138049720
|
0.00243
|
NM_000384.3(APOB):c.4825T>C (p.Leu1609=)
|
rs72653083
|
0.00242
|
NM_001852.4(COL9A2):c.1982C>T (p.Pro661Leu)
|
rs150687987
|
0.00242
|
NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser)
|
rs149547196
|
0.00241
|
NM_000552.5(VWF):c.114C>T (p.Phe38=)
|
rs2229443
|
0.00241
|
NM_002234.4(KCNA5):c.919C>T (p.Pro307Ser)
|
rs17215409
|
0.00241
|
NM_015512.5(DNAH1):c.7193G>A (p.Arg2398His)
|
rs201299120
|
0.00241
|
NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr)
|
rs138161346
|
0.00241
|
NM_000384.3(APOB):c.3843C>T (p.Ser1281=)
|
rs72653079
|
0.00240
|
NM_000557.5(GDF5):c.652A>C (p.Arg218=)
|
rs116467702
|
0.00240
|
NM_001042475.3(CEP85L):c.1020+17468G>A
|
rs185846037
|
0.00240
|
NM_006231.4(POLE):c.4184A>G (p.Tyr1395Cys)
|
rs5744933
|
0.00240
|
NM_004444.5(EPHB4):c.1144G>A (p.Gly382Ser)
|
rs114926839
|
0.00239
|
NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln)
|
rs34066624
|
0.00238
|
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys)
|
rs72629785
|
0.00238
|
NM_006031.6(PCNT):c.8224G>C (p.Glu2742Gln)
|
rs35557109
|
0.00238
|
NM_181426.2(CCDC39):c.2299T>C (p.Leu767=)
|
rs200913298
|
0.00238
|
NM_000316.3(PTH1R):c.128G>A (p.Arg43His)
|
rs141466964
|
0.00237
|
NM_001291303.3(FAT4):c.10390A>G (p.Ile3464Val)
|
rs147872710
|
0.00237
|
NM_002661.5(PLCG2):c.714C>T (p.Ala238=)
|
rs138981519
|
0.00237
|
NM_005529.7(HSPG2):c.10110G>A (p.Lys3370=)
|
rs141963344
|
0.00237
|
NM_000557.5(GDF5):c.462C>A (p.Pro154=)
|
rs150686636
|
0.00236
|
NM_001291303.3(FAT4):c.1128G>A (p.Val376=)
|
rs202216461
|
0.00236
|
NM_006269.2(RP1):c.3132A>C (p.Lys1044Asn)
|
rs35234349
|
0.00236
|
NM_015627.3(LDLRAP1):c.713G>A (p.Arg238Gln)
|
rs148579379
|
0.00236
|
NM_001267550.2(TTN):c.101064T>C (p.Asp33688=)
|
rs368168812
|
0.00235
|
NM_001267550.2(TTN):c.106857C>T (p.Asn35619=)
|
rs116604145
|
0.00235
|
NM_003073.5(SMARCB1):c.628+13C>T
|
rs184021903
|
0.00235
|
NM_004168.4(SDHA):c.313-19G>T
|
rs185555941
|
0.00235
|
NM_001267550.2(TTN):c.96108G>A (p.Val32036=)
|
rs372773283
|
0.00234
|
NM_001844.5(COL2A1):c.3151G>A (p.Ala1051Thr)
|
rs41272041
|
0.00234
|
NM_182925.5(FLT4):c.4006G>A (p.Glu1336Lys)
|
rs201796032
|
0.00234
|
NM_018112.3(TMEM38B):c.799G>A (p.Val267Ile)
|
rs149026877
|
0.00233
|
NM_025215.6(PUS1):c.1214C>T (p.Thr405Met)
|
rs149378338
|
0.00233
|
NM_001037.5(SCN1B):c.267C>T (p.Arg89=)
|
rs140949982
|
0.00232
|
NM_001173467.3(SP7):c.864G>A (p.Leu288=)
|
rs113295055
|
0.00232
|
NM_002471.4(MYH6):c.1275C>T (p.Ile425=)
|
rs61742470
|
0.00232
|
NM_004239.4(TRIP11):c.5137G>C (p.Glu1713Gln)
|
rs137974620
|
0.00232
|
NM_004304.5(ALK):c.1943C>T (p.Thr648Ile)
|
rs116202066
|
0.00232
|
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala)
|
rs112592855
|
0.00231
|
NM_001853.4(COL9A3):c.755G>A (p.Arg252Gln)
|
rs139573483
|
0.00231
|
NM_002473.6(MYH9):c.7C>G (p.Gln3Glu)
|
rs56200894
|
0.00231
|
NM_003000.3(SDHB):c.170A>G (p.His57Arg)
|
rs35962811
|
0.00231
|
NM_005045.4(RELN):c.7438G>A (p.Gly2480Ser)
|
rs150236371
|
0.00231
|
NM_000465.4(BARD1):c.1977A>G (p.Arg659=)
|
rs147215925
|
0.00230
|
NM_001243133.2(NLRP3):c.1920C>T (p.Phe640=)
|
rs34698071
|
0.00230
|
NM_001303256.3(MORC2):c.63A>G (p.Thr21=)
|
rs73156742
|
0.00230
|
NM_001715.3(BLK):c.674C>T (p.Pro225Leu)
|
rs144592409
|
0.00230
|
NM_001142864.4(PIEZO1):c.4580G>A (p.Arg1527His)
|
rs148870219
|
0.00229
|
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys)
|
rs72677231
|
0.00229
|
NM_002972.4(SBF1):c.4927C>A (p.Pro1643Thr)
|
rs202049257
|
0.00229
|
NM_000069.3(CACNA1S):c.1711G>A (p.Val571Ile)
|
rs114191482
|
0.00228
|
NM_001031834.1(RAB40AL):c.257G>A (p.Gly86Asp)
|
rs146065311
|
0.00228
|
NM_001105206.3(LAMA4):c.5450T>C (p.Ile1817Thr)
|
rs144482486
|
0.00228
|
NM_001358263.1(HK1):c.28-3347T>A
|
rs186567171
|
0.00228
|
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=)
|
rs116587608
|
0.00227
|
NM_000448.3(RAG1):c.2571C>T (p.Ala857=)
|
rs141560248
|
0.00227
|
NM_001282225.2(ADA2):c.1045G>A (p.Val349Ile)
|
rs74317375
|
0.00227
|
NM_182925.5(FLT4):c.3908G>C (p.Gly1303Ala)
|
rs146806202
|
0.00227
|
NM_000492.4(CFTR):c.3367+37G>A
|
rs137854873
|
0.00226
|
NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val)
|
rs141625744
|
0.00226
|
NM_012092.4(ICOS):c.451G>C (p.Val151Leu)
|
rs76778263
|
0.00226
|
NM_001114134.2(EPB42):c.894C>T (p.Thr298=)
|
rs35719500
|
0.00225
|
NM_001142864.4(PIEZO1):c.7426C>T (p.Arg2476Cys)
|
rs144035770
|
0.00225
|
NM_032578.4(MYPN):c.2236A>G (p.Thr746Ala)
|
rs147287437
|
0.00225
|
NM_173560.4(RFX6):c.2399G>C (p.Gly800Ala)
|
rs138343620
|
0.00225
|
NM_001267550.2(TTN):c.36509A>T (p.Glu12170Val)
|
rs200840285
|
0.00224
|
NM_002972.4(SBF1):c.1968+15G>A
|
rs41281539
|
0.00224
|
NM_003978.5(PSTPIP1):c.786C>T (p.Asp262=)
|
rs35860563
|
0.00224
|
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu)
|
rs114137983
|
0.00224
|
NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp)
|
rs3729799
|
0.00223
|
NM_001267550.2(TTN):c.76722T>C (p.Tyr25574=)
|
rs55696153
|
0.00223
|
NM_000435.3(NOTCH3):c.2507C>T (p.Thr836Ile)
|
rs34338511
|
0.00222
|
NM_000552.5(VWF):c.3089A>G (p.Gln1030Arg)
|
rs145125264
|
0.00222
|
NM_001033855.3(DCLRE1C):c.1008C>T (p.Asn336=)
|
rs115524993
|
0.00222
|
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe)
|
rs138576504
|
0.00222
|
NM_001355436.2(SPTB):c.1896A>G (p.Gln632=)
|
rs74056006
|
0.00222
|
NM_002972.4(SBF1):c.868G>A (p.Ala290Thr)
|
rs201776298
|
0.00222
|
NM_006506.5(RASA2):c.1020+20G>A
|
rs113251297
|
0.00222
|
NM_006587.4(CORIN):c.2047A>T (p.Ser683Cys)
|
rs144722161
|
0.00222
|
NM_025132.4(WDR19):c.1915A>G (p.Ser639Gly)
|
rs150649460
|
0.00222
|
NM_001375808.2(LPIN2):c.1735T>C (p.Ser579Pro)
|
rs150022314
|
0.00221
|
NM_003098.3(SNTA1):c.1426-5T>C
|
rs183939417
|
0.00221
|
NM_006031.6(PCNT):c.4142C>T (p.Ala1381Val)
|
rs114383833
|
0.00221
|
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg)
|
rs41278630
|
0.00221
|
NM_002529.4(NTRK1):c.254G>A (p.Arg85His)
|
rs79678945
|
0.00220
|
NM_005051.3(QARS1):c.25C>A (p.Leu9Ile)
|
rs62621067
|
0.00220
|
NM_005529.7(HSPG2):c.9789C>A (p.Leu3263=)
|
rs137921473
|
0.00220
|
NM_006363.6(SEC23B):c.689+10C>T
|
rs200020725
|
0.00220
|
NM_014336.5(AIPL1):c.516T>C (p.His172=)
|
rs62637017
|
0.00220
|
NM_021254.4(CFAP298):c.77A>C (p.Glu26Ala)
|
rs138178722
|
0.00220
|
NM_080680.3(COL11A2):c.3583-5T>C
|
rs183536190
|
0.00219
|
NM_000316.3(PTH1R):c.299G>A (p.Gly100Asp)
|
rs41290646
|
0.00218
|
NM_001079802.2(FKTN):c.167G>A (p.Arg56His)
|
rs146951171
|
0.00218
|
NM_001267550.2(TTN):c.57683G>A (p.Arg19228His)
|
rs114711705
|
0.00218
|
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn)
|
rs10979599
|
0.00218
|
NM_177438.3(DICER1):c.485G>A (p.Gly162Asp)
|
rs142815547
|
0.00218
|
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro)
|
rs11466018
|
0.00217
|
NM_001291303.3(FAT4):c.524G>T (p.Arg175Leu)
|
rs143534324
|
0.00217
|
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)
|
rs41419545
|
0.00217
|
NM_000152.5(GAA):c.2647-8C>T
|
rs139201641
|
0.00216
|
NM_001177316.2(SLC34A3):c.1585A>T (p.Ile529Phe)
|
rs140639805
|
0.00216
|
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met)
|
rs7196804
|
0.00216
|
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln)
|
rs137934837
|
0.00216
|
NM_001177316.2(SLC34A3):c.1454G>A (p.Arg485His)
|
rs138872455
|
0.00215
|
NM_001267550.2(TTN):c.36347A>G (p.Glu12116Gly)
|
rs200513156
|
0.00215
|
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=)
|
rs137932254
|
0.00215
|
NM_014915.3(ANKRD26):c.2679A>G (p.Gln893=)
|
rs61730098
|
0.00215
|
NM_001267550.2(TTN):c.34505G>T (p.Gly11502Val)
|
rs190209925
|
0.00214
|
NM_001395413.1(POR):c.1239+28C>T
|
rs72557932
|
0.00214
|
NM_000435.3(NOTCH3):c.2300G>A (p.Arg767His)
|
rs75291244
|
0.00213
|
NM_001370298.3(FGD4):c.647C>T (p.Thr216Ile)
|
rs145115430
|
0.00213
|
NM_001377229.1(DISP1):c.275C>G (p.Thr92Ser)
|
rs141066173
|
0.00213
|
NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro)
|
rs41268014
|
0.00213
|
NM_000077.5(CDKN2A):c.150+37G>C
|
rs45456595
|
0.00212
|
NM_000384.3(APOB):c.11833A>G (p.Thr3945Ala)
|
rs1801698
|
0.00212
|
NM_000642.3(AGL):c.2546+10T>C
|
rs74551473
|
0.00212
|
NM_053025.4(MYLK):c.755-12C>T
|
rs138877679
|
0.00212
|
NM_001244008.2(KIF1A):c.3888C>T (p.Arg1296=)
|
rs144520412
|
0.00211
|
NM_016239.4(MYO15A):c.7655-7C>G
|
rs191171943
|
0.00211
|
NM_018979.4(WNK1):c.2490G>A (p.Pro830=)
|
rs79816263
|
0.00211
|
NM_133379.5(TTN):c.11849T>C (p.Ile3950Thr)
|
rs72647897
|
0.00211
|
NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn)
|
rs72749169
|
0.00210
|
NM_000091.5(COL4A3):c.4665G>A (p.Ala1555=)
|
rs200858199
|
0.00210
|
NM_002047.4(GARS1):c.1420C>A (p.Arg474=)
|
rs113958280
|
0.00210
|
NM_138477.4(CDAN1):c.3450+17A>G
|
rs141626745
|
0.00210
|
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe)
|
rs150441555
|
0.00209
|
NM_001009944.3(PKD1):c.12769G>A (p.Gly4257Arg)
|
rs369397443
|
0.00209
|
NM_001267550.2(TTN):c.54208A>C (p.Arg18070=)
|
rs138240658
|
0.00209
|
NM_022356.4(P3H1):c.1501C>T (p.Arg501Trp)
|
rs115108794
|
0.00209
|
NM_153717.3(EVC):c.1636A>G (p.Met546Val)
|
rs112608085
|
0.00209
|
NM_000431.4(MVK):c.381G>A (p.Pro127=)
|
rs140397628
|
0.00208
|
NM_000540.3(RYR1):c.2121C>A (p.Gly707=)
|
rs146104858
|
0.00208
|
NM_001267550.2(TTN):c.73168A>G (p.Thr24390Ala)
|
rs182491843
|
0.00208
|
NM_002471.4(MYH6):c.3979-7dup
|
rs545343612
|
0.00208
|
NM_003998.4(NFKB1):c.1845G>T (p.Leu615Phe)
|
rs149211506
|
0.00208
|
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys)
|
rs143184877
|
0.00208
|
NM_004356.4(CD81):c.414T>C (p.Asp138=)
|
rs143644902
|
0.00208
|
NM_016239.4(MYO15A):c.10443G>A (p.Ala3481=)
|
rs190486507
|
0.00208
|
NM_020919.4(ALS2):c.2241C>T (p.Tyr747=)
|
rs3219160
|
0.00208
|
NM_000292.3(PHKA2):c.1398G>A (p.Ala466=)
|
rs146631734
|
0.00207
|
NM_001035.3(RYR2):c.2396+17T>G
|
rs376363428
|
0.00207
|
NM_001458.5(FLNC):c.2507C>A (p.Pro836Gln)
|
rs199652368
|
0.00207
|
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)
|
rs147241704
|
0.00207
|
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile)
|
rs72650019
|
0.00206
|
NM_005529.7(HSPG2):c.7191G>A (p.Ala2397=)
|
rs2290499
|
0.00206
|
NM_000132.4(F8):c.2947G>A (p.Val983Ile)
|
rs35295375
|
0.00205
|
NM_001114134.2(EPB42):c.453T>C (p.Asn151=)
|
rs114136713
|
0.00205
|
NM_001267550.2(TTN):c.9077A>T (p.Asn3026Ile)
|
rs11900987
|
0.00205
|
NM_001876.4(CPT1A):c.2198A>G (p.Asn733Ser)
|
rs151271754
|
0.00205
|
NM_001999.4(FBN2):c.7471+6G>A
|
rs200998513
|
0.00205
|
NM_147127.5(EVC2):c.2883A>C (p.Gly961=)
|
rs149188988
|
0.00205
|
NM_000071.3(CBS):c.939G>A (p.Thr313=)
|
rs2228298
|
0.00204
|
NM_000289.6(PFKM):c.2199-12A>G
|
rs202008060
|
0.00204
|
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr)
|
rs55837610
|
0.00204
|
NM_002661.5(PLCG2):c.2324A>G (p.Lys775Arg)
|
rs142825971
|
0.00204
|
NM_004239.4(TRIP11):c.5629C>A (p.Pro1877Thr)
|
rs148261539
|
0.00204
|
NM_005548.3(KARS1):c.1258C>T (p.Arg420Cys)
|
rs77573084
|
0.00204
|
NM_138477.4(CDAN1):c.2463G>A (p.Gly821=)
|
rs139809959
|
0.00204
|
NM_001199397.3(NEK1):c.1666-17C>T
|
rs183761065
|
0.00203
|
NM_001457.4(FLNB):c.1472T>C (p.Met491Thr)
|
rs147575358
|
0.00203
|
NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser)
|
rs145277501
|
0.00203
|
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro)
|
rs11571746
|
0.00202
|
NM_000548.5(TSC2):c.1281C>A (p.Ile427=)
|
rs45478892
|
0.00202
|
NM_001159773.2(CANT1):c.801C>T (p.Asn267=)
|
rs138199925
|
0.00202
|
NM_052945.4(TNFRSF13C):c.317G>A (p.Arg106Gln)
|
rs150374940
|
0.00202
|
NM_000463.3(UGT1A1):c.540A>G (p.Glu180=)
|
rs148755655
|
0.00201
|
NM_000492.3(CFTR):c.-461A>G
|
rs185028612
|
0.00200
|
NM_006329.4(FBLN5):c.376G>A (p.Val126Met)
|
rs61734479
|
0.00199
|
NM_012073.5(CCT5):c.331+14A>T
|
rs201171003
|
0.00199
|
NM_133379.5(TTN):c.10917C>T (p.Gly3639=)
|
rs140804168
|
0.00199
|
NM_000258.3(MYL3):c.130-14G>T
|
rs192329378
|
0.00198
|
NM_001844.5(COL2A1):c.2046C>T (p.Asp682=)
|
rs41263851
|
0.00198
|
NM_133379.5(TTN):c.10648C>T (p.Arg3550Trp)
|
rs141407971
|
0.00198
|
NM_000059.4(BRCA2):c.6937+565T>C
|
rs11571675
|
0.00195
|
NM_001267550.2(TTN):c.34307A>G (p.Lys11436Arg)
|
rs568554504
|
0.00195
|
NM_005529.7(HSPG2):c.4627-3del
|
rs368983547
|
0.00195
|
NM_006031.6(PCNT):c.9700+10C>T
|
rs199917135
|
0.00195
|
NM_015141.4(GPD1L):c.981G>A (p.Val327=)
|
rs144877595
|
0.00195
|
NM_001084.5(PLOD3):c.1935+105T>G
|
rs186082235
|
0.00194
|
NM_001142864.4(PIEZO1):c.985C>G (p.Leu329Val)
|
rs114507258
|
0.00194
|
NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile)
|
rs144930507
|
0.00194
|
NM_153717.3(EVC):c.550G>A (p.Asp184Asn)
|
rs41269549
|
0.00194
|
NM_000152.5(GAA):c.676C>G (p.Leu226Val)
|
rs113085339
|
0.00193
|
NM_001042492.3(NF1):c.888+647C>G
|
rs185500742
|
0.00193
|
NM_001267550.2(TTN):c.98439G>A (p.Val32813=)
|
rs368487246
|
0.00193
|
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile)
|
rs148399850
|
0.00192
|
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu)
|
rs41311117
|
0.00192
|
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly)
|
rs201167067
|
0.00192
|
NM_007194.4(CHEK2):c.1096-129A>T
|
rs574744424
|
0.00192
|
NM_005340.7(HINT1):c.330C>T (p.His110=)
|
rs139624223
|
0.00191
|
NM_015627.3(LDLRAP1):c.672C>T (p.Ser224=)
|
rs41291054
|
0.00191
|
NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser)
|
rs148939995
|
0.00191
|
NM_015512.5(DNAH1):c.5669G>T (p.Gly1890Val)
|
rs200859252
|
0.00190
|
NM_000178.4(GSS):c.768-3C>T
|
rs184506175
|
0.00189
|
NM_002471.4(MYH6):c.4320T>A (p.Ala1440=)
|
rs145566711
|
0.00189
|
NM_032119.4(ADGRV1):c.11201T>C (p.Val3734Ala)
|
rs113498662
|
0.00189
|
NM_001377.3(DYNC2H1):c.10314A>G (p.Glu3438=)
|
rs369838929
|
0.00188
|
NM_002335.4(LRP5):c.1801+675A>G
|
rs555106014
|
0.00188
|
NM_002691.4(POLD1):c.378C>T (p.Arg126=)
|
rs145324823
|
0.00188
|
NM_002972.4(SBF1):c.2079C>T (p.His693=)
|
rs199672732
|
0.00188
|
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln)
|
rs140621959
|
0.00188
|
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys)
|
rs141859946
|
0.00188
|
NM_000188.3(HK1):c.1571-18C>T
|
rs75829368
|
0.00187
|
NM_001267550.2(TTN):c.85691A>T (p.Lys28564Ile)
|
rs199859344
|
0.00187
|
NM_002103.5(GYS1):c.300+8G>A
|
rs5454
|
0.00187
|
NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val)
|
rs35193202
|
0.00187
|
NM_005957.5(MTHFR):c.1959G>A (p.Thr653=)
|
rs45572531
|
0.00187
|
NM_000289.6(PFKM):c.702A>T (p.Pro234=)
|
rs138022863
|
0.00185
|
NM_001235.5(SERPINH1):c.722-13G>A
|
rs116506210
|
0.00185
|
NM_004415.4(DSP):c.1206G>A (p.Lys402=)
|
rs150422458
|
0.00185
|
NM_005529.7(HSPG2):c.355-14G>C
|
rs372356869
|
0.00185
|
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn)
|
rs3821945
|
0.00185
|
NM_000091.5(COL4A3):c.3566-9T>C
|
rs147886850
|
0.00184
|
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg)
|
rs147373451
|
0.00184
|
NM_001457.4(FLNB):c.6231C>T (p.Asp2077=)
|
rs145280904
|
0.00184
|
NM_021625.5(TRPV4):c.2498A>G (p.Asn833Ser)
|
rs116035946
|
0.00184
|
NM_000037.4(ANK1):c.2197-17G>A
|
rs188360816
|
0.00183
|
NM_000208.4(INSR):c.1080C>T (p.Cys360=)
|
rs56066516
|
0.00183
|
NM_000289.6(PFKM):c.1500+29C>T
|
rs138256599
|
0.00183
|
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys)
|
rs111033255
|
0.00183
|
NM_000492.4(CFTR):c.1365G>A (p.Ala455=)
|
rs79074685
|
0.00183
|
NM_006767.4(LZTR1):c.741C>T (p.Ser247=)
|
rs114458679
|
0.00183
|
NM_016599.5(MYOZ2):c.76+20G>A
|
rs113920336
|
0.00183
|
NM_020433.5(JPH2):c.856A>G (p.Thr286Ala)
|
rs144022614
|
0.00183
|
NM_030662.4(MAP2K2):c.580+6G>A
|
rs201435249
|
0.00183
|
NM_031443.4(CCM2):c.246C>T (p.Pro82=)
|
rs148244188
|
0.00183
|
NM_000019.4(ACAT1):c.238+17C>T
|
rs199918672
|
0.00182
|
NM_000558.5(HBA1):c.95+38C>T
|
rs556086584
|
0.00182
|
NM_001114134.2(EPB42):c.741C>A (p.Gly247=)
|
rs115626075
|
0.00182
|
NM_001130823.3(DNMT1):c.150C>T (p.His50=)
|
rs146112081
|
0.00182
|
NM_006031.6(PCNT):c.5614G>A (p.Glu1872Lys)
|
rs112853262
|
0.00182
|
NM_002180.3(IGHMBP2):c.304G>T (p.Ala102Ser)
|
rs35610053
|
0.00181
|
NM_003126.4(SPTA1):c.1181A>G (p.Asn394Ser)
|
rs111834376
|
0.00181
|
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg)
|
rs121908919
|
0.00180
|
NM_001377.3(DYNC2H1):c.1953+14T>C
|
rs186540831
|
0.00180
|
NM_144687.4(NLRP12):c.2227A>C (p.Lys743Gln)
|
rs74373537
|
0.00180
|
NM_198239.2(CCN6):c.533A>T (p.Asn178Ile)
|
rs35374349
|
0.00180
|
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr)
|
rs145007501
|
0.00179
|
NM_006031.6(PCNT):c.9247C>T (p.His3083Tyr)
|
rs143289533
|
0.00179
|
NM_000152.5(GAA):c.2332-12A>T
|
rs200965268
|
0.00178
|
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe)
|
rs45488304
|
0.00178
|
NM_001879.6(MASP1):c.1442-5C>G
|
rs138989954
|
0.00178
|
NM_003036.4(SKI):c.1211+19C>T
|
rs182600375
|
0.00178
|
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp)
|
rs148041814
|
0.00178
|
NM_006371.5(CRTAP):c.732C>T (p.Leu244=)
|
rs149119710
|
0.00178
|
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)
|
rs77724903
|
0.00178
|
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys)
|
rs149146258
|
0.00178
|
NM_000089.4(COL1A2):c.808G>A (p.Val270Ile)
|
rs368468
|
0.00177
|
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg)
|
rs35736435
|
0.00177
|
NM_001267550.2(TTN):c.29963-13A>G
|
rs72650008
|
0.00177
|
NM_006073.4(TRDN):c.793+61T>C
|
rs572614305
|
0.00177
|
NM_153717.3(EVC):c.1963G>A (p.Ala655Thr)
|
rs149344570
|
0.00177
|
NM_000038.6(APC):c.-19+512G>A
|
rs550306841
|
0.00176
|
NM_001355436.2(SPTB):c.5463C>T (p.Pro1821=)
|
rs114513294
|
0.00176
|
NM_001375808.2(LPIN2):c.-10+1381T>C
|
rs566304730
|
0.00176
|
NM_002691.4(POLD1):c.773C>T (p.Thr258Met)
|
rs76131127
|
0.00176
|
NM_004086.3(COCH):c.841G>A (p.Asp281Asn)
|
rs28362775
|
0.00176
|
NM_014236.4(GNPAT):c.1056-20C>A
|
rs114267453
|
0.00176
|
NM_005751.5(AKAP9):c.5978-4A>G
|
rs147494754
|
0.00175
|
NM_033118.4(MYLK2):c.508G>A (p.Glu170Lys)
|
rs145656924
|
0.00175
|
NM_001353214.3(DYM):c.1717C>T (p.Leu573=)
|
rs145279594
|
0.00174
|
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys)
|
rs150759461
|
0.00174
|
NM_053013.4(ENO3):c.86-10C>T
|
rs201571802
|
0.00174
|
NM_181078.3(IL21R):c.1467G>A (p.Thr489=)
|
rs56002407
|
0.00174
|
NM_000243.3(MEFV):c.1610+21G>A
|
rs113925050
|
0.00173
|
NM_006363.6(SEC23B):c.993+10C>G
|
rs201948587
|
0.00173
|
NM_213655.5(WNK1):c.2362C>T (p.Arg788Cys)
|
rs72649848
|
0.00173
|
NM_000188.3(HK1):c.2583C>T (p.Asp861=)
|
rs145610109
|
0.00172
|
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr)
|
rs189966800
|
0.00172
|
NM_002471.4(MYH6):c.2928+5G>A
|
rs28730772
|
0.00172
|
NM_145045.5(ODAD3):c.398G>A (p.Arg133His)
|
rs112493796
|
0.00172
|
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
|
rs143987857
|
0.00171
|
NM_001142864.4(PIEZO1):c.3969-12G>A
|
rs200317312
|
0.00171
|
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=)
|
rs188336294
|
0.00171
|
NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser)
|
rs113667224
|
0.00171
|
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val)
|
rs183156491
|
0.00171
|
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His)
|
rs75419644
|
0.00170
|
NM_002296.4(LBR):c.837+19T>A
|
rs77316576
|
0.00170
|
NM_006231.4(POLE):c.4523G>A (p.Arg1508His)
|
rs142508245
|
0.00170
|
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)
|
rs1800059
|
0.00169
|
NM_001167623.2(CACNA1C):c.3883A>G (p.Ile1295Val)
|
rs114851656
|
0.00169
|
NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=)
|
rs56077602
|
0.00169
|
NM_033056.4(PCDH15):c.4733T>C (p.Val1578Ala)
|
rs139915181
|
0.00169
|
NM_182961.4(SYNE1):c.25091C>T (p.Pro8364Leu)
|
rs148376885
|
0.00169
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter)
|
rs71352737
|
0.00168
|
NM_080680.3(COL11A2):c.329G>A (p.Arg110Gln)
|
rs145960317
|
0.00168
|
NM_194248.3(OTOF):c.4582G>A (p.Asp1528Asn)
|
rs138151478
|
0.00168
|
NM_000089.4(COL1A2):c.3614G>A (p.Arg1205Gln)
|
rs73428220
|
0.00167
|
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr)
|
rs80116829
|
0.00167
|
NM_003036.4(SKI):c.2184G>C (p.Pro728=)
|
rs543584871
|
0.00167
|
NM_006231.4(POLE):c.6453C>T (p.Tyr2151=)
|
rs116076060
|
0.00167
|
NM_000384.3(APOB):c.9105T>C (p.Asn3035=)
|
rs147510760
|
0.00166
|
NM_003978.5(PSTPIP1):c.657A>C (p.Gln219His)
|
rs139362350
|
0.00166
|
NM_018063.5(HELLS):c.334G>A (p.Gly112Ser)
|
rs148139900
|
0.00166
|
NM_000051.4(ATM):c.7788+8G>T
|
rs112775908
|
0.00165
|
NM_001009944.3(PKD1):c.3183G>A (p.Glu1061=)
|
rs148727945
|
0.00165
|
NM_001013693.3(LDLRAD2):c.*2629C>T
|
rs181154087
|
0.00165
|
NM_002473.6(MYH9):c.4952T>C (p.Met1651Thr)
|
rs142094977
|
0.00165
|
NM_006031.6(PCNT):c.1519C>G (p.Arg507Gly)
|
rs138036524
|
0.00165
|
NM_025132.4(WDR19):c.2361C>T (p.Phe787=)
|
rs200133722
|
0.00165
|
NM_177438.3(DICER1):c.20A>G (p.Gln7Arg)
|
rs117358479
|
0.00165
|
NM_002529.4(NTRK1):c.1354+18A>T
|
rs73004759
|
0.00164
|
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp)
|
rs116840776
|
0.00164
|
NM_000138.5(FBN1):c.2420-8T>C
|
rs140582
|
0.00163
|
NM_006031.6(PCNT):c.5872C>G (p.His1958Asp)
|
rs189308172
|
0.00163
|
NM_080911.3(UNG):c.533+6G>A
|
rs55812333
|
0.00163
|
NM_000071.3(CBS):c.1059G>A (p.Thr353=)
|
rs61735859
|
0.00162
|
NM_000090.4(COL3A1):c.130G>A (p.Val44Ile)
|
rs79632685
|
0.00162
|
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser)
|
rs11557600
|
0.00162
|
NM_001159699.2(FHL1):c.489C>T (p.Asp163=)
|
rs149670651
|
0.00162
|
NM_000038.6(APC):c.120G>A (p.Glu40=)
|
rs142720069
|
0.00161
|
NM_001282225.2(ADA2):c.542+7A>G
|
rs149078840
|
0.00161
|
NM_001370298.3(FGD4):c.666A>T (p.Ala222=)
|
rs139357821
|
0.00161
|
NM_001854.4(COL11A1):c.3729G>A (p.Gly1243=)
|
rs148395062
|
0.00161
|
NM_014639.4(SKIC3):c.4004G>A (p.Gly1335Asp)
|
rs147273993
|
0.00161
|
NM_015271.5(TRIM2):c.122G>A (p.Arg41His)
|
rs146705057
|
0.00161
|
NM_021625.5(TRPV4):c.57C>T (p.Pro19=)
|
rs112408790
|
0.00161
|
NM_144687.4(NLRP12):c.1063G>A (p.Glu355Lys)
|
rs143855597
|
0.00161
|
NM_000476.3(AK1):c.325-9C>T
|
rs145431113
|
0.00160
|
NM_001142864.4(PIEZO1):c.6903G>A (p.Leu2301=)
|
rs147479380
|
0.00160
|
NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val)
|
rs184018403
|
0.00160
|
NM_004972.4(JAK2):c.3178-12_3178-11insC
|
rs533264615
|
0.00160
|
NM_018979.4(WNK1):c.1074C>T (p.Thr358=)
|
rs72648621
|
0.00160
|
NM_022114.4(PRDM16):c.2452G>A (p.Gly818Ser)
|
rs201904226
|
0.00160
|
NM_000251.3(MSH2):c.1277-8T>C
|
rs145400590
|
0.00159
|
NM_001358921.2(COQ2):c.1028T>C (p.Val343Ala)
|
rs148156462
|
0.00159
|
NM_001375808.2(LPIN2):c.1410C>T (p.Thr470=)
|
rs35932462
|
0.00159
|
NM_002691.4(POLD1):c.80A>T (p.Asp27Val)
|
rs150066950
|
0.00159
|
NM_003126.4(SPTA1):c.5118C>T (p.His1706=)
|
rs200945419
|
0.00159
|
NM_153676.4(USH1C):c.2491-16C>T
|
rs200919289
|
0.00159
|
NM_000321.3(RB1):c.380+10C>G
|
rs187110786
|
0.00158
|
NM_000435.3(NOTCH3):c.3314G>C (p.Gly1105Ala)
|
rs143764521
|
0.00158
|
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile)
|
rs193922639
|
0.00158
|
NM_001999.4(FBN2):c.2940C>T (p.Cys980=)
|
rs143255082
|
0.00158
|
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His)
|
rs730254
|
0.00158
|
NM_006031.6(PCNT):c.6080A>G (p.Gln2027Arg)
|
rs147189224
|
0.00157
|
NM_014236.4(GNPAT):c.925-16G>A
|
rs41305723
|
0.00157
|
NM_018979.4(WNK1):c.6150T>C (p.Leu2050=)
|
rs151331381
|
0.00157
|
NM_000238.4(KCNH2):c.1129-18C>T
|
rs78794789
|
0.00156
|
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)
|
rs45517423
|
0.00156
|
NM_001142864.4(PIEZO1):c.5728G>A (p.Glu1910Lys)
|
rs200929552
|
0.00156
|
NM_001142864.4(PIEZO1):c.64+17C>T
|
rs577170711
|
0.00156
|
NM_001498.4(GCLC):c.1743C>T (p.Ile581=)
|
rs138321238
|
0.00156
|
NM_002335.4(LRP5):c.2295G>A (p.Ser765=)
|
rs140955013
|
0.00156
|
NM_020631.6(PLEKHG5):c.1932T>C (p.Pro644=)
|
rs150807400
|
0.00156
|
NM_020800.3(IFT80):c.897G>A (p.Val299=)
|
rs145776235
|
0.00156
|
NM_000552.5(VWF):c.1728G>T (p.Met576Ile)
|
rs150146744
|
0.00155
|
NM_002335.4(LRP5):c.4623G>A (p.Thr1541=)
|
rs139974816
|
0.00155
|
NM_004004.6(GJB2):c.*3C>A
|
rs111033460
|
0.00155
|
NM_021629.4(GNB4):c.186T>C (p.His62=)
|
rs149798652
|
0.00155
|
NM_000463.3(UGT1A1):c.141C>T (p.Ile47=)
|
rs34526305
|
0.00154
|
NM_003200.5(TCF3):c.750G>A (p.Pro250=)
|
rs201703361
|
0.00154
|
NM_005422.4(TECTA):c.5160C>T (p.Asp1720=)
|
rs142657158
|
0.00154
|
NM_000326.5(RLBP1):c.924C>G (p.Pro308=)
|
rs144615495
|
0.00153
|
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn)
|
rs142155101
|
0.00153
|
NM_001035.3(RYR2):c.4596+12G>A
|
rs148557427
|
0.00153
|
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser)
|
rs61751217
|
0.00153
|
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala)
|
rs142992009
|
0.00153
|
NM_006415.4(SPTLC1):c.261C>T (p.Gly87=)
|
rs151283029
|
0.00153
|
NM_014874.4(MFN2):c.1179G>A (p.Met393Ile)
|
rs12069578
|
0.00153
|
NM_203486.3(DLL3):c.618C>T (p.Pro206=)
|
rs192624990
|
0.00153
|
NM_005591.4(MRE11):c.822T>C (p.Leu274=)
|
rs137868143
|
0.00152
|
NM_006790.3(MYOT):c.445G>C (p.Glu149Gln)
|
rs71578935
|
0.00152
|
NM_000642.3(AGL):c.3792A>T (p.Gly1264=)
|
rs148606237
|
0.00151
|
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val)
|
rs184545774
|
0.00151
|
NM_001267550.2(TTN):c.68458G>C (p.Ala22820Pro)
|
rs72646880
|
0.00151
|
NM_001291303.3(FAT4):c.5921-14C>T
|
rs190218898
|
0.00151
|
NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg)
|
rs140830294
|
0.00151
|
NM_021167.5(GATAD1):c.762G>A (p.Gly254=)
|
rs139637606
|
0.00151
|
NM_000037.4(ANK1):c.2495G>A (p.Arg832Gln)
|
rs34523608
|
0.00150
|
NM_000037.4(ANK1):c.2745G>A (p.Val915=)
|
rs143585080
|
0.00150
|
NM_000188.3(HK1):c.375+19C>T
|
rs202035445
|
0.00150
|
NM_001009944.3(PKD1):c.10325C>T (p.Ala3442Val)
|
rs144593342
|
0.00150
|
NM_001244008.2(KIF1A):c.4612C>T (p.Arg1538Cys)
|
rs200184619
|
0.00150
|
NM_001277115.2(DNAH11):c.6970C>G (p.Leu2324Val)
|
rs201323940
|
0.00150
|
NM_001943.5(DSG2):c.166G>A (p.Val56Met)
|
rs121913013
|
0.00150
|
NM_006446.5(SLCO1B1):c.1332-14T>C
|
rs71581991
|
0.00150
|
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=)
|
rs147448807
|
0.00150
|
NM_016203.4(PRKAG2):c.1704G>A (p.Thr568=)
|
rs138167675
|
0.00150
|
NM_020778.5(ALPK3):c.3624A>G (p.Pro1208=)
|
rs368494764
|
0.00150
|
NM_006031.6(PCNT):c.4354G>A (p.Gly1452Arg)
|
rs143796569
|
0.00149
|
NM_000355.4(TCN2):c.138C>T (p.Ser46=)
|
rs143250551
|
0.00148
|
NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser)
|
rs148072630
|
0.00148
|
NM_002471.4(MYH6):c.2890G>T (p.Ala964Ser)
|
rs144907522
|
0.00148
|
NM_004239.4(TRIP11):c.5298G>T (p.Lys1766Asn)
|
rs145868557
|
0.00148
|
NM_005751.5(AKAP9):c.10197T>C (p.Thr3399=)
|
rs143627839
|
0.00148
|
NM_000152.5(GAA):c.692+17G>C
|
rs199559553
|
0.00147
|
NM_001013703.4(EIF2AK4):c.1968C>T (p.Ile656=)
|
rs369621429
|
0.00147
|
NM_001127217.3(SMAD9):c.788G>A (p.Arg263Gln)
|
rs78249575
|
0.00147
|
NM_001142864.4(PIEZO1):c.2409G>C (p.Gln803His)
|
rs200029740
|
0.00147
|
NM_001355436.2(SPTB):c.5750C>T (p.Ser1917Phe)
|
rs149678681
|
0.00147
|
NM_052945.4(TNFRSF13C):c.102C>T (p.Ala34=)
|
rs567541615
|
0.00147
|
NM_000090.4(COL3A1):c.2056C>G (p.Pro686Ala)
|
rs41263775
|
0.00146
|
NM_001267550.2(TTN):c.73336C>T (p.Leu24446=)
|
rs189768015
|
0.00146
|
NM_003126.4(SPTA1):c.5256G>A (p.Leu1752=)
|
rs141683960
|
0.00146
|
NM_147127.5(EVC2):c.3411C>T (p.Ala1137=)
|
rs144532809
|
0.00146
|
NM_000435.3(NOTCH3):c.6237G>A (p.Gly2079=)
|
rs376598183
|
0.00145
|
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe)
|
rs151073129
|
0.00145
|
NM_000518.5(HBB):c.432C>T (p.His144=)
|
rs36020563
|
0.00145
|
NM_001127217.3(SMAD9):c.487G>A (p.Ala163Thr)
|
rs61753157
|
0.00145
|
NM_003924.4(PHOX2B):c.288C>G (p.Arg96=)
|
rs201892150
|
0.00145
|
NM_020433.5(JPH2):c.637C>T (p.Arg213Trp)
|
rs767328866
|
0.00145
|
NM_032119.4(ADGRV1):c.5072C>T (p.Thr1691Met)
|
rs146954342
|
0.00145
|
NM_000335.5(SCN5A):c.3919C>T (p.Leu1307Phe)
|
rs41313031
|
0.00144
|
NM_001142864.4(PIEZO1):c.1465C>G (p.Arg489Gly)
|
rs59550107
|
0.00144
|
NM_002386.4(MC1R):c.67C>T (p.Gln23Ter)
|
rs201533137
|
0.00144
|
NM_002972.4(SBF1):c.3666G>A (p.Lys1222=)
|
rs373529561
|
0.00144
|
NM_000316.3(PTH1R):c.1353+17C>T
|
rs202140438
|
0.00143
|
NM_000642.3(AGL):c.1875G>T (p.Thr625=)
|
rs141944878
|
0.00143
|
NM_004006.3(DMD):c.7472A>G (p.Gln2491Arg)
|
rs147694734
|
0.00143
|
NM_004086.3(COCH):c.1204A>G (p.Ile402Val)
|
rs28362778
|
0.00143
|
NM_173560.4(RFX6):c.1733G>C (p.Arg578Pro)
|
rs146115506
|
0.00143
|
NM_001032283.3(TMPO):c.565+1696C>T
|
rs141443652
|
0.00142
|
NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser)
|
rs80338805
|
0.00142
|
NM_001853.4(COL9A3):c.237G>A (p.Pro79=)
|
rs141960487
|
0.00142
|
NM_005751.5(AKAP9):c.6037G>A (p.Glu2013Lys)
|
rs61757671
|
0.00142
|
NM_018706.7(DHTKD1):c.2184C>T (p.Asp728=)
|
rs142017323
|
0.00142
|
NM_000059.4(BRCA2):c.9634G>C (p.Gly3212Arg)
|
rs55775473
|
0.00141
|
NM_001267550.2(TTN):c.65747G>A (p.Arg21916Gln)
|
rs148849567
|
0.00141
|
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg)
|
rs201158906
|
0.00141
|
NM_001355436.2(SPTB):c.3679C>T (p.Pro1227Ser)
|
rs149186357
|
0.00141
|
NM_003114.5(SPAG1):c.825C>T (p.Asn275=)
|
rs150007121
|
0.00141
|
NM_003809.3(TNFSF12):c.597G>A (p.Ala199=)
|
rs143039184
|
0.00141
|
NM_021625.5(TRPV4):c.28G>C (p.Ala10Pro)
|
rs376436045
|
0.00141
|
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg)
|
rs7215458
|
0.00140
|
NM_000335.5(SCN5A):c.3246C>T (p.Ser1082=)
|
rs111422496
|
0.00140
|
NM_000431.4(MVK):c.924C>T (p.Leu308=)
|
rs72648042
|
0.00140
|
NM_001355436.2(SPTB):c.2881G>A (p.Val961Ile)
|
rs149316006
|
0.00140
|
NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val)
|
rs200466720
|
0.00140
|
NM_001457.4(FLNB):c.4929C>T (p.Ala1643=)
|
rs149070858
|
0.00140
|
NM_006302.3(MOGS):c.1581C>A (p.Asp527Glu)
|
rs200508287
|
0.00140
|
NM_181523.3(PIK3R1):c.687G>A (p.Ser229=)
|
rs34175949
|
0.00140
|
NM_000018.4(ACADVL):c.1606-22C>T
|
rs370303265
|
0.00139
|
NM_000089.4(COL1A2):c.3139G>A (p.Val1047Met)
|
rs35820023
|
0.00139
|
NM_000536.4(RAG2):c.1095T>C (p.Ser365=)
|
rs140519815
|
0.00139
|
NM_001243133.2(NLRP3):c.1119G>A (p.Glu373=)
|
rs138613962
|
0.00139
|
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp)
|
rs148720124
|
0.00139
|
NM_004415.4(DSP):c.6678T>A (p.Gly2226=)
|
rs149070106
|
0.00139
|
NM_000037.4(ANK1):c.5395-1162C>A
|
rs145094714
|
0.00138
|
NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu)
|
rs55816687
|
0.00138
|
NM_000492.4(CFTR):c.4243-5C>T
|
rs114402068
|
0.00138
|
NM_001355436.2(SPTB):c.5050C>T (p.Arg1684Cys)
|
rs141226650
|
0.00138
|
NM_001355436.2(SPTB):c.6045G>A (p.Ser2015=)
|
rs149362111
|
0.00138
|
NM_001384474.1(LOXHD1):c.2914G>A (p.Glu972Lys)
|
rs367630521
|
0.00138
|
NM_001458.5(FLNC):c.1577G>A (p.Arg526Gln)
|
rs34932223
|
0.00138
|
NM_004341.5(CAD):c.83-3C>T
|
rs151119882
|
0.00138
|
NM_005262.3(GFER):c.189G>C (p.Glu63Asp)
|
rs375792737
|
0.00138
|
NM_005422.4(TECTA):c.3492C>T (p.Thr1164=)
|
rs144012985
|
0.00138
|
NM_017668.3(NDE1):c.948-2772T>C
|
rs143288748
|
0.00138
|
NM_000051.4(ATM):c.998C>T (p.Ser333Phe)
|
rs28904919
|
0.00137
|
NM_001142864.4(PIEZO1):c.5963C>T (p.Ala1988Val)
|
rs556192193
|
0.00137
|
NM_001145809.2(MYH14):c.5573G>A (p.Arg1858His)
|
rs11882073
|
0.00137
|
NM_001267550.2(TTN):c.72782G>A (p.Arg24261Gln)
|
rs142874389
|
0.00137
|
NM_001370466.1(NOD2):c.2291G>A (p.Arg764Gln)
|
rs104895464
|
0.00137
|
NM_001605.3(AARS1):c.700C>T (p.Pro234Ser)
|
rs141840552
|
0.00137
|
NM_001142864.4(PIEZO1):c.3793G>A (p.Asp1265Asn)
|
rs570106950
|
0.00136
|
NM_001395413.1(POR):c.975C>T (p.Ala325=)
|
rs72557941
|
0.00136
|
NM_002439.5(MSH3):c.792+8G>A
|
rs147777411
|
0.00136
|
NM_003126.4(SPTA1):c.5378G>A (p.Arg1793Gln)
|
rs200938874
|
0.00136
|
NM_000053.4(ATP7B):c.1278C>T (p.Val426=)
|
rs143556945
|
0.00135
|
NM_001105206.3(LAMA4):c.1633C>T (p.Arg545Cys)
|
rs138153075
|
0.00135
|
NM_017802.4(DNAAF5):c.1931+8C>T
|
rs145254596
|
0.00135
|
NM_020070.4(IGLL1):c.420T>C (p.Phe140=)
|
rs1064423
|
0.00135
|
NM_021830.5(TWNK):c.639C>T (p.Gly213=)
|
rs11542130
|
0.00135
|
NM_022041.4(GAN):c.1612+12A>G
|
rs150344737
|
0.00135
|
NM_203486.3(DLL3):c.352-15C>T
|
rs201902809
|
0.00135
|
NM_000179.3(MSH6):c.3647-6T>A
|
rs182871847
|
0.00134
|
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=)
|
rs148121889
|
0.00134
|
NM_000355.4(TCN2):c.428-4T>C
|
rs201408393
|
0.00134
|
NM_001013703.4(EIF2AK4):c.2394A>G (p.Leu798=)
|
rs186026165
|
0.00134
|
NM_001267550.2(TTN):c.72137C>T (p.Ala24046Val)
|
rs146767076
|
0.00134
|
NM_001267550.2(TTN):c.8938G>A (p.Ala2980Thr)
|
rs72647885
|
0.00134
|
NM_002473.6(MYH9):c.5323A>G (p.Lys1775Glu)
|
rs145139708
|
0.00134
|
NM_194248.3(OTOF):c.367G>A (p.Gly123Ser)
|
rs116314622
|
0.00134
|
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser)
|
rs139189200
|
0.00133
|
NM_001005373.4(LRSAM1):c.268G>A (p.Asp90Asn)
|
rs117692127
|
0.00133
|
NM_001114134.2(EPB42):c.1672G>A (p.Glu558Lys)
|
rs75424023
|
0.00133
|
NM_001267550.2(TTN):c.13202G>A (p.Arg4401Gln)
|
rs200431386
|
0.00133
|
NM_001457.4(FLNB):c.3169A>C (p.Lys1057Gln)
|
rs13321615
|
0.00133
|
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser)
|
rs141553918
|
0.00133
|
NM_014014.5(SNRNP200):c.5766C>T (p.Leu1922=)
|
rs147427344
|
0.00133
|
NM_014920.5(CILK1):c.666T>C (p.Thr222=)
|
rs139739780
|
0.00133
|
NM_024577.4(SH3TC2):c.79A>G (p.Thr27Ala)
|
rs141649676
|
0.00133
|
NM_000552.5(VWF):c.6099C>T (p.Tyr2033=)
|
rs55784921
|
0.00132
|
NM_001267550.2(TTN):c.58869A>G (p.Lys19623=)
|
rs191066933
|
0.00132
|
NM_001355436.2(SPTB):c.5915G>A (p.Arg1972Gln)
|
rs140141633
|
0.00132
|
NM_004415.4(DSP):c.3696C>A (p.Ser1232=)
|
rs141120358
|
0.00132
|
NM_001364905.1(LRBA):c.4591T>G (p.Phe1531Val)
|
rs114610541
|
0.00131
|
NM_001370466.1(NOD2):c.1970G>A (p.Arg657Gln)
|
rs114664276
|
0.00131
|
NM_001457.4(FLNB):c.7360G>A (p.Val2454Ile)
|
rs146499414
|
0.00131
|
NM_002878.4(RAD51D):c.666A>G (p.Glu222=)
|
rs114012742
|
0.00131
|
NM_002972.4(SBF1):c.5463C>T (p.Tyr1821=)
|
rs144773853
|
0.00131
|
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)
|
rs28763965
|
0.00131
|
NM_005529.7(HSPG2):c.204C>A (p.Asp68Glu)
|
rs1869780
|
0.00131
|
NM_000552.5(VWF):c.8079C>T (p.Cys2693=)
|
rs41276732
|
0.00130
|
NM_000047.3(ARSL):c.1694T>G (p.Ile565Ser)
|
rs142375403
|
0.00129
|
NM_000132.4(F8):c.4333T>C (p.Ser1445Pro)
|
rs146153504
|
0.00129
|
NM_001377.3(DYNC2H1):c.8481A>C (p.Thr2827=)
|
rs370627443
|
0.00129
|
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr)
|
rs139866691
|
0.00129
|
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met)
|
rs139872089
|
0.00129
|
NM_033124.5(CCDC65):c.203T>C (p.Val68Ala)
|
rs118060953
|
0.00129
|
NM_133379.5(TTN):c.14214C>T (p.Thr4738=)
|
rs147513899
|
0.00129
|
NM_147127.5(EVC2):c.1823G>A (p.Arg608His)
|
rs145693546
|
0.00129
|
NM_001110556.2(FLNA):c.1813G>A (p.Asp605Asn)
|
rs201093148
|
0.00128
|
NM_001267550.2(TTN):c.36285C>T (p.His12095=)
|
rs201184203
|
0.00128
|
NM_001322934.2(NFKB2):c.2145G>A (p.Ser715=)
|
rs200006038
|
0.00128
|
NM_001943.5(DSG2):c.1875G>C (p.Leu625=)
|
rs35743180
|
0.00128
|
NM_003072.5(SMARCA4):c.1419+9C>T
|
rs374635008
|
0.00128
|
NM_004655.4(AXIN2):c.1952C>T (p.Ser651Leu)
|
rs74006838
|
0.00128
|
NM_014845.6(FIG4):c.446+9G>A
|
rs190287033
|
0.00128
|
NM_031443.4(CCM2):c.980A>G (p.Asn327Ser)
|
rs150428392
|
0.00128
|
NM_177438.3(DICER1):c.4891T>G (p.Ser1631Ala)
|
rs145551486
|
0.00128
|
NM_000492.4(CFTR):c.4242+10T>C
|
rs138642693
|
0.00127
|
NM_001009944.3(PKD1):c.11717G>T (p.Cys3906Phe)
|
rs369291413
|
0.00127
|
NM_001364905.1(LRBA):c.2340A>G (p.Thr780=)
|
rs79392371
|
0.00127
|
NM_001370466.1(NOD2):c.2296G>A (p.Val766Met)
|
rs104895444
|
0.00127
|
NM_153717.3(EVC):c.1040C>T (p.Thr347Met)
|
rs34947207
|
0.00127
|
NM_000463.3(UGT1A1):c.1122T>C (p.Gly374=)
|
rs139698110
|
0.00126
|
NM_001040716.2(PC):c.616G>T (p.Val206Leu)
|
rs147945506
|
0.00126
|
NM_004415.4(DSP):c.2346C>T (p.Asp782=)
|
rs139071827
|
0.00126
|
NM_022489.4(INF2):c.3134G>A (p.Arg1045Gln)
|
rs200369827
|
0.00126
|
NM_144687.4(NLRP12):c.1731G>A (p.Lys577=)
|
rs73608454
|
0.00126
|
NM_000059.4(BRCA2):c.632-69T>C
|
rs61948377
|
0.00125
|
NM_001322934.2(NFKB2):c.1288C>T (p.Pro430Ser)
|
rs202001697
|
0.00125
|
NM_003098.3(SNTA1):c.993C>T (p.Arg331=)
|
rs143309917
|
0.00125
|
NM_003126.4(SPTA1):c.6132G>C (p.Leu2044=)
|
rs186987240
|
0.00125
|
NM_006231.4(POLE):c.6675C>T (p.Arg2225=)
|
rs149973644
|
0.00125
|
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)
|
rs11212587
|
0.00124
|
NM_001243177.4(ALDOA):c.648C>G (p.Leu216=)
|
rs112110009
|
0.00124
|
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser)
|
rs147580753
|
0.00124
|
NM_020779.4(WDR35):c.1755C>T (p.Val585=)
|
rs146130105
|
0.00124
|
NM_024996.7(GFM1):c.690-5C>G
|
rs201685981
|
0.00124
|
NM_000091.5(COL4A3):c.2886C>T (p.Phe962=)
|
rs77846212
|
0.00123
|
NM_000175.5(GPI):c.987C>T (p.Asn329=)
|
rs140676743
|
0.00123
|
NM_001005361.3(DNM2):c.238C>T (p.His80Tyr)
|
rs148790687
|
0.00123
|
NM_001130823.3(DNMT1):c.768+12T>A
|
rs189898346
|
0.00123
|
NM_001130823.3(DNMT1):c.768+18C>A
|
rs200380915
|
0.00123
|
NM_002878.4(RAD51D):c.263+1588A>G
|
rs180869630
|
0.00123
|
NM_003680.4(YARS1):c.1374G>A (p.Pro458=)
|
rs151227410
|
0.00123
|
NM_004208.4(AIFM1):c.948C>A (p.Ala316=)
|
rs148184613
|
0.00123
|
NM_006005.3(WFS1):c.2052G>A (p.Ala684=)
|
rs71539668
|
0.00123
|
NM_022124.6(CDH23):c.2781C>T (p.Tyr927=)
|
rs375102725
|
0.00123
|
NM_177438.3(DICER1):c.1908-4A>G
|
rs112284114
|
0.00123
|
NM_177438.3(DICER1):c.3213A>G (p.Arg1071=)
|
rs148959399
|
0.00123
|
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr)
|
rs199865688
|
0.00122
|
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg)
|
rs45466399
|
0.00122
|
NM_001277115.2(DNAH11):c.6181-12T>C
|
rs201203384
|
0.00122
|
NM_005529.7(HSPG2):c.11169C>T (p.Phe3723=)
|
rs139033413
|
0.00122
|
NM_177438.3(DICER1):c.5604-12G>A
|
rs149841885
|
0.00122
|
NM_000037.4(ANK1):c.4606C>T (p.Arg1536Cys)
|
rs146416859
|
0.00121
|
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys)
|
rs202162520
|
0.00121
|
NM_001386795.1(DTNA):c.1088T>C (p.Leu363Ser)
|
rs546236565
|
0.00121
|
NM_021625.5(TRPV4):c.2248G>A (p.Val750Ile)
|
rs148171058
|
0.00121
|
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)
|
rs45478192
|
0.00121
|
NM_177438.3(DICER1):c.5145C>T (p.Leu1715=)
|
rs139500905
|
0.00121
|
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr)
|
rs11570082
|
0.00120
|
NM_000719.7(CACNA1C):c.724C>T (p.Leu242=)
|
rs200800133
|
0.00120
|
NM_001040108.2(MLH3):c.359T>C (p.Phe120Ser)
|
rs28756979
|
0.00120
|
NM_001184.4(ATR):c.992A>G (p.Asp331Gly)
|
rs150008448
|
0.00120
|
NM_001386795.1(DTNA):c.1000G>A (p.Val334Met)
|
rs148123045
|
0.00120
|
NM_001458.5(FLNC):c.2180G>A (p.Arg727His)
|
rs200618242
|
0.00120
|
NM_006736.6(DNAJB2):c.195C>T (p.Tyr65=)
|
rs116719245
|
0.00120
|
NM_153717.3(EVC):c.1464+5C>T
|
rs369734950
|
0.00120
|
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser)
|
rs142786231
|
0.00120
|
NM_000037.4(ANK1):c.2826G>A (p.Thr942=)
|
rs7002295
|
0.00119
|
NM_000037.4(ANK1):c.997G>A (p.Asp333Asn)
|
rs147608206
|
0.00119
|
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val)
|
rs75789129
|
0.00119
|
NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys)
|
rs140901235
|
0.00119
|
NM_001378454.1(ALMS1):c.945T>C (p.Ser315=)
|
rs183390773
|
0.00119
|
NM_004006.3(DMD):c.5620G>A (p.Glu1874Lys)
|
rs142441725
|
0.00119
|
NM_031443.4(CCM2):c.1217C>T (p.Thr406Met)
|
rs150734280
|
0.00119
|
NM_000152.5(GAA):c.1830C>T (p.Ala610=)
|
rs61736896
|
0.00118
|
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His)
|
rs72646808
|
0.00118
|
NM_001365951.3(KIF1B):c.3259+9A>G
|
rs149566646
|
0.00118
|
NM_001370466.1(NOD2):c.2886-16G>C
|
rs199525467
|
0.00118
|
NM_021815.5(SLC5A7):c.46C>T (p.Leu16Phe)
|
rs143876748
|
0.00118
|
NM_000293.3(PHKB):c.1459-9G>T
|
rs201995780
|
0.00117
|
NM_001037.5(SCN1B):c.588T>C (p.Asn196=)
|
rs77244433
|
0.00117
|
NM_001999.4(FBN2):c.1592G>C (p.Gly531Ala)
|
rs34450503
|
0.00117
|
NM_004984.4(KIF5A):c.2839A>G (p.Thr947Ala)
|
rs150672943
|
0.00117
|
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala)
|
rs147370143
|
0.00117
|
NM_024577.4(SH3TC2):c.1178C>T (p.Ala393Val)
|
rs148321018
|
0.00117
|
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=)
|
rs111967655
|
0.00116
|
NM_000548.5(TSC2):c.1946T>C (p.Met649Thr)
|
rs45490792
|
0.00116
|
NM_001009944.3(PKD1):c.588C>T (p.Ser196=)
|
rs776302294
|
0.00116
|
NM_001457.4(FLNB):c.2493C>T (p.Pro831=)
|
rs145952210
|
0.00116
|
NM_001854.4(COL11A1):c.3277-13A>C
|
rs371455495
|
0.00116
|
NM_002878.4(RAD51D):c.146C>T (p.Ala49Val)
|
rs140317560
|
0.00116
|
NM_002878.4(RAD51D):c.263+1509C>T
|
rs201506572
|
0.00116
|
NM_014822.4(SEC24D):c.2681C>T (p.Thr894Met)
|
rs149063473
|
0.00116
|
NM_016169.4(SUFU):c.600C>T (p.Ile200=)
|
rs149513330
|
0.00116
|
NM_000337.6(SGCD):c.213G>A (p.Arg71=)
|
rs74846539
|
0.00115
|
NM_000061.3(BTK):c.615G>T (p.Glu205Asp)
|
rs35877704
|
0.00114
|
NM_000335.5(SCN5A):c.1236C>T (p.Val412=)
|
rs45565936
|
0.00114
|
NM_024577.4(SH3TC2):c.137A>C (p.Gln46Pro)
|
rs146162276
|
0.00114
|
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)
|
rs61730054
|
0.00113
|
NM_000152.5(GAA):c.915G>A (p.Gly305=)
|
rs150343359
|
0.00113
|
NM_001033855.3(DCLRE1C):c.36A>C (p.Pro12=)
|
rs148108773
|
0.00113
|
NM_001355436.2(SPTB):c.4670A>G (p.Glu1557Gly)
|
rs140648376
|
0.00113
|
NM_001355436.2(SPTB):c.6345+19T>A
|
rs151232626
|
0.00113
|
NM_002241.5(KCNJ10):c.812G>A (p.Arg271His)
|
rs3795339
|
0.00113
|
NM_004006.3(DMD):c.2745A>C (p.Thr915=)
|
rs149922633
|
0.00113
|
NM_016204.4(GDF2):c.352A>T (p.Ile118Phe)
|
rs144456901
|
0.00113
|
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg)
|
rs28997570
|
0.00113
|
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val)
|
rs138287857
|
0.00112
|
NM_000304.4(PMP22):c.178+7C>A
|
rs147885521
|
0.00111
|
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser)
|
rs45484298
|
0.00111
|
NM_001457.4(FLNB):c.3522G>A (p.Ser1174=)
|
rs140993979
|
0.00111
|
NM_003242.6(TGFBR2):c.94+16245G>A
|
rs61732532
|
0.00111
|
NM_001009944.3(PKD1):c.739C>T (p.Leu247Phe)
|
rs537409943
|
0.00110
|
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)
|
rs201043950
|
0.00110
|
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His)
|
rs34193178
|
0.00110
|
NM_001999.4(FBN2):c.5353+10C>T
|
rs113589974
|
0.00110
|
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser)
|
rs143978652
|
0.00110
|
NM_003126.4(SPTA1):c.174C>T (p.Phe58=)
|
rs190704778
|
0.00110
|
NM_014236.4(GNPAT):c.1212T>C (p.Ala404=)
|
rs143205045
|
0.00110
|
NM_080680.3(COL11A2):c.3576C>T (p.Gly1192=)
|
rs138380958
|
0.00110
|
NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg)
|
rs55800493
|
0.00109
|
NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala)
|
rs45489199
|
0.00109
|
NM_000478.6(ALPL):c.182-15C>G
|
rs201873253
|
0.00109
|
NM_001277115.2(DNAH11):c.12370T>G (p.Leu4124Val)
|
rs151156028
|
0.00109
|
NM_005591.4(MRE11):c.426C>T (p.Asp142=)
|
rs3218740
|
0.00109
|
NM_015512.5(DNAH1):c.9343C>T (p.Arg3115Trp)
|
rs185397176
|
0.00109
|
NM_203486.3(DLL3):c.63C>T (p.Leu21=)
|
rs146255899
|
0.00109
|
NM_000053.4(ATP7B):c.*23G>T
|
rs201108784
|
0.00108
|
NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala)
|
rs56091799
|
0.00108
|
NM_000384.3(APOB):c.7612C>T (p.Leu2538=)
|
rs72653093
|
0.00108
|
NM_001242896.3(DEPDC5):c.3265-3C>T
|
rs371377906
|
0.00108
|
NM_001267550.2(TTN):c.12986G>A (p.Arg4329Lys)
|
rs199560188
|
0.00108
|
NM_001267550.2(TTN):c.15542G>C (p.Gly5181Ala)
|
rs201185434
|
0.00108
|
NM_001267550.2(TTN):c.16055-9A>C
|
rs368897883
|
0.00108
|
NM_006254.4(PRKCD):c.603C>T (p.Ile201=)
|
rs75794462
|
0.00108
|
NM_020975.6(RET):c.1197G>A (p.Pro399=)
|
rs148371113
|
0.00108
|
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser)
|
rs147307031
|
0.00107
|
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly)
|
rs139848756
|
0.00107
|
NM_001267550.2(TTN):c.12733A>C (p.Asn4245His)
|
rs199652066
|
0.00107
|
NM_001267550.2(TTN):c.17300G>A (p.Ser5767Asn)
|
rs200692495
|
0.00107
|
NM_007294.4(BRCA1):c.765G>A (p.Glu255=)
|
rs62625299
|
0.00107
|
NM_024753.5(TTC21B):c.2472G>A (p.Leu824=)
|
rs114725374
|
0.00107
|
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile)
|
rs55933907
|
0.00106
|
NM_000302.4(PLOD1):c.564G>C (p.Leu188Phe)
|
rs201888323
|
0.00106
|
NM_001103.4(ACTN2):c.1383C>T (p.Ile461=)
|
rs34827377
|
0.00106
|
NM_001369.3(DNAH5):c.1644+12A>G
|
rs201116549
|
0.00106
|
NM_001395413.1(POR):c.1882G>A (p.Val628Ile)
|
rs145782750
|
0.00106
|
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met)
|
rs145687082
|
0.00106
|
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His)
|
rs80357459
|
0.00106
|
NM_020070.4(IGLL1):c.616A>T (p.Thr206Ser)
|
rs139491925
|
0.00106
|
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu)
|
rs35912339
|
0.00106
|
NC_000016.10:g.177603A>T
|
rs545195355
|
0.00105
|
NM_000053.4(ATP7B):c.51+31G>A
|
rs116654819
|
0.00105
|
NM_000071.3(CBS):c.1643G>A (p.Arg548Gln)
|
rs150828989
|
0.00105
|
NM_000435.3(NOTCH3):c.4737-19C>T
|
rs180755159
|
0.00105
|
NM_001142864.4(PIEZO1):c.6822C>T (p.Ser2274=)
|
rs35686439
|
0.00105
|
NM_001844.5(COL2A1):c.709-8G>T
|
rs200757693
|
0.00105
|
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn)
|
rs145097270
|
0.00105
|
NM_147127.5(EVC2):c.2707-13A>T
|
rs146588799
|
0.00105
|
NM_000168.6(GLI3):c.3208A>T (p.Thr1070Ser)
|
rs150907867
|
0.00104
|
NM_001040108.2(MLH3):c.4351G>A (p.Glu1451Lys)
|
rs28939071
|
0.00104
|
NM_001927.4(DES):c.18G>A (p.Ser6=)
|
rs199972656
|
0.00104
|
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp)
|
rs28997569
|
0.00104
|
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe)
|
rs41305898
|
0.00104
|
NM_201253.3(CRB1):c.2103C>G (p.Pro701=)
|
rs144436610
|
0.00104
|
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)
|
rs138327406
|
0.00103
|
NM_000384.3(APOB):c.1124+18C>T
|
rs200376021
|
0.00103
|
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=)
|
rs147840220
|
0.00103
|
NM_001267550.2(TTN):c.94283G>A (p.Arg31428His)
|
rs149375775
|
0.00103
|
NM_001355436.2(SPTB):c.1838G>T (p.Ser613Ile)
|
rs3742601
|
0.00103
|
NM_001370466.1(NOD2):c.1211C>T (p.Ser404Leu)
|
rs104895431
|
0.00103
|
NM_002317.7(LOX):c.322G>A (p.Gly108Ser)
|
rs200554252
|
0.00103
|
NM_002691.4(POLD1):c.3054G>A (p.Val1018=)
|
rs369613619
|
0.00103
|
NM_004239.4(TRIP11):c.5010T>C (p.Ala1670=)
|
rs149334552
|
0.00103
|
NM_015512.5(DNAH1):c.1351A>G (p.Lys451Glu)
|
rs76591348
|
0.00103
|
NM_018979.4(WNK1):c.3112-10C>T
|
rs72650715
|
0.00103
|
NM_018979.4(WNK1):c.6643+18A>G
|
rs72650769
|
0.00103
|
NM_024675.4(PALB2):c.1194G>A (p.Val398=)
|
rs61755173
|
0.00103
|
NM_206933.4(USH2A):c.2256T>C (p.His752=)
|
rs111033281
|
0.00103
|
NM_000093.5(COL5A1):c.3855C>T (p.Gly1285=)
|
rs139544503
|
0.00102
|
NM_000173.7(GP1BA):c.732C>T (p.Tyr244=)
|
rs200381725
|
0.00102
|
NM_000188.3(HK1):c.2226G>A (p.Glu742=)
|
rs141211718
|
0.00102
|
NM_000398.7(CYB5R3):c.463+13G>A
|
rs150048774
|
0.00102
|
NM_000436.4(OXCT1):c.1080T>C (p.Asp360=)
|
rs140869022
|
0.00102
|
NM_000719.7(CACNA1C):c.5609C>T (p.Thr1870Met)
|
rs201777030
|
0.00102
|
NM_001377.3(DYNC2H1):c.6918A>G (p.Ser2306=)
|
rs368824340
|
0.00102
|
NM_001999.4(FBN2):c.3144C>T (p.Tyr1048=)
|
rs1801167
|
0.00102
|
NM_001999.4(FBN2):c.6655A>G (p.Ile2219Val)
|
rs140821039
|
0.00102
|
NM_006096.4(NDRG1):c.789G>A (p.Ser263=)
|
rs61755062
|
0.00102
|
NM_133379.5(TTN):c.11254T>A (p.Ser3752Thr)
|
rs144209883
|
0.00102
|
NM_144687.4(NLRP12):c.2386del (p.His796fs)
|
rs539741111
|
0.00102
|
NM_000152.5(GAA):c.726G>A (p.Ala242=)
|
rs148578399
|
0.00101
|
NM_000251.3(MSH2):c.819A>G (p.Val273=)
|
rs146577635
|
0.00101
|
NM_000286.3(PEX12):c.722G>T (p.Gly241Val)
|
rs139417458
|
0.00101
|
NM_000548.5(TSC2):c.275A>T (p.Glu92Val)
|
rs137853994
|
0.00101
|
NM_001355436.2(SPTB):c.2060G>A (p.Arg687His)
|
rs3742602
|
0.00101
|
NM_001364905.1(LRBA):c.1713C>T (p.His571=)
|
rs145812385
|
0.00101
|
NM_003126.4(SPTA1):c.2655T>C (p.Arg885=)
|
rs368544526
|
0.00101
|
NM_020975.6(RET):c.1157C>T (p.Ala386Val)
|
rs115272158
|
0.00101
|
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys)
|
rs55716624
|
0.00100
|
NM_000455.5(STK11):c.894C>A (p.Phe298Leu)
|
rs199681533
|
0.00100
|
NM_000520.6(HEXA):c.1107C>T (p.Gly369=)
|
rs140337137
|
0.00100
|
NM_001267550.2(TTN):c.1776T>C (p.Asp592=)
|
rs147081804
|
0.00100
|
NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg)
|
rs139052603
|
0.00100
|
NM_002972.4(SBF1):c.3765C>T (p.Tyr1255=)
|
rs201985055
|
0.00100
|
NM_003239.5(TGFB3):c.164G>A (p.Ser55Asn)
|
rs143229915
|
0.00100
|
NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=)
|
rs148688181
|
0.00100
|
NM_005529.7(HSPG2):c.11671+11C>T
|
rs368204073
|
0.00100
|
NM_024334.3(TMEM43):c.392+16G>A
|
rs150859949
|
0.00100
|
NM_032578.4(MYPN):c.3792C>T (p.Tyr1264=)
|
rs142307556
|
0.00100
|
NM_000518.5(HBB):c.316-70C>G
|
rs193922560
|
0.00099
|
NM_001267550.2(TTN):c.35876-9T>C
|
rs572783607
|
0.00099
|
NM_001267550.2(TTN):c.39296-13C>T
|
rs372380420
|
0.00099
|
NM_020631.6(PLEKHG5):c.-88+6287G>A
|
rs554689677
|
0.00099
|
NM_025132.4(WDR19):c.2715G>A (p.Lys905=)
|
rs200339331
|
0.00099
|
NM_201596.3(CACNB2):c.1560T>C (p.Pro520=)
|
rs150280879
|
0.00099
|
NM_000552.5(VWF):c.5312-19A>C
|
rs200237834
|
0.00098
|
NM_001006658.3(CR2):c.2844G>A (p.Glu948=)
|
rs61754518
|
0.00098
|
NM_001142864.4(PIEZO1):c.1849-6C>T
|
rs780754421
|
0.00098
|
NM_001903.5(CTNNA1):c.301+20T>G
|
rs201543087
|
0.00098
|
NM_020779.4(WDR35):c.1471-7A>G
|
rs376388391
|
0.00098
|
NM_021625.5(TRPV4):c.854-4G>A
|
rs371733585
|
0.00098
|
NM_022489.4(INF2):c.2848C>T (p.Arg950Trp)
|
rs199873407
|
0.00098
|
NM_001009944.3(PKD1):c.10678G>A (p.Gly3560Arg)
|
rs79000340
|
0.00097
|
NM_001103.4(ACTN2):c.2076C>T (p.Ile692=)
|
rs144122893
|
0.00097
|
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=)
|
rs371480338
|
0.00097
|
NM_001349206.2(LPIN1):c.1225C>G (p.Gln409Glu)
|
rs146529487
|
0.00097
|
NM_003476.5(CSRP3):c.299G>A (p.Arg100His)
|
rs138218523
|
0.00097
|
NM_006767.4(LZTR1):c.-11G>A
|
rs370616172
|
0.00097
|
NM_007272.3(CTRC):c.555G>A (p.Thr185=)
|
rs113087202
|
0.00097
|
NM_000059.4(BRCA2):c.6937+594T>G
|
rs191253965
|
0.00096
|
NM_000238.4(KCNH2):c.1581G>A (p.Ala527=)
|
rs150275982
|
0.00096
|
NM_000256.3(MYBPC3):c.2914C>T (p.Arg972Trp)
|
rs193922382
|
0.00096
|
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=)
|
rs56394008
|
0.00096
|
NM_000785.4(CYP27B1):c.1452G>A (p.Ala484=)
|
rs8176349
|
0.00096
|
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly)
|
rs139139859
|
0.00096
|
NM_001042492.3(NF1):c.*29A>G
|
rs139147882
|
0.00096
|
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro)
|
rs185683410
|
0.00096
|
NM_002109.6(HARS1):c.730-17G>A
|
rs189624055
|
0.00096
|
NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=)
|
rs139926138
|
0.00096
|
NM_007272.3(CTRC):c.494-6C>T
|
rs111790169
|
0.00096
|
NM_021625.5(TRPV4):c.1913C>T (p.Pro638Leu)
|
rs35058636
|
0.00096
|
NM_024753.5(TTC21B):c.3874-14T>C
|
rs200347449
|
0.00096
|
NM_007294.4(BRCA1):c.3022A>G (p.Met1008Val)
|
rs56321129
|
0.00095
|
NM_020779.4(WDR35):c.770T>C (p.Val257Ala)
|
rs142955097
|
0.00095
|
NM_022124.6(CDH23):c.8980-12C>T
|
rs111583276
|
0.00095
|
NM_003126.4(SPTA1):c.2889C>T (p.Asn963=)
|
rs371639635
|
0.00094
|
NM_006231.4(POLE):c.1347G>A (p.Thr449=)
|
rs142373951
|
0.00094
|
NM_017636.4(TRPM4):c.2740A>T (p.Lys914Ter)
|
rs140799936
|
0.00094
|
NM_000037.4(ANK1):c.2132A>G (p.Tyr711Cys)
|
rs139375455
|
0.00093
|
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln)
|
rs147549623
|
0.00093
|
NM_000384.3(APOB):c.4838G>C (p.Ser1613Thr)
|
rs61742247
|
0.00093
|
NM_000459.5(TEK):c.1900C>T (p.Leu634Phe)
|
rs35378598
|
0.00093
|
NM_001013703.4(EIF2AK4):c.3129C>T (p.Ile1043=)
|
rs148332808
|
0.00093
|
NM_001267550.2(TTN):c.65776G>A (p.Val21926Met)
|
rs145527033
|
0.00093
|
NM_005529.7(HSPG2):c.10512C>T (p.His3504=)
|
rs55875654
|
0.00093
|
NM_006031.6(PCNT):c.3457A>G (p.Ser1153Gly)
|
rs140424584
|
0.00093
|
NM_021625.5(TRPV4):c.1284G>A (p.Gly428=)
|
rs150773110
|
0.00093
|
NM_022041.4(GAN):c.283-20T>C
|
rs371984923
|
0.00093
|
NM_001291303.3(FAT4):c.11619C>T (p.Cys3873=)
|
rs141328606
|
0.00092
|
NM_001370466.1(NOD2):c.-8-7T>A
|
rs104895421
|
0.00092
|
NM_002471.4(MYH6):c.1083G>T (p.Gly361=)
|
rs138928022
|
0.00092
|
NM_003126.4(SPTA1):c.4339-126A>G
|
rs376856911
|
0.00092
|
NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu)
|
rs142047577
|
0.00092
|
NM_003242.6(TGFBR2):c.106A>G (p.Met36Val)
|
rs17025864
|
0.00092
|
NM_017617.5(NOTCH1):c.1862G>A (p.Arg621His)
|
rs138504021
|
0.00092
|
NM_018474.6(KIZ):c.405+10T>C
|
rs372556437
|
0.00092
|
NM_053025.4(MYLK):c.3706A>G (p.Met1236Val)
|
rs113124819
|
0.00092
|
NM_000138.5(FBN1):c.783T>C (p.Asn261=)
|
rs113721547
|
0.00091
|
NM_000218.3(KCNQ1):c.619G>A (p.Val207Met)
|
rs75813654
|
0.00091
|
NM_000283.4(PDE6B):c.145G>T (p.Asp49Tyr)
|
rs79826315
|
0.00091
|
NM_000297.4(PKD2):c.1830G>A (p.Ala610=)
|
rs144968710
|
0.00091
|
NM_000384.3(APOB):c.3509-11C>T
|
rs200768300
|
0.00091
|
NM_001009944.3(PKD1):c.6665C>T (p.Ala2222Val)
|
rs148496347
|
0.00091
|
NM_001105206.3(LAMA4):c.514G>A (p.Gly172Ser)
|
rs147695488
|
0.00091
|
NM_001267550.2(TTN):c.58419A>G (p.Gln19473=)
|
rs186563991
|
0.00091
|
NM_001530.4(HIF1A):c.1045G>A (p.Asp349Asn)
|
rs142179458
|
0.00091
|
NM_002661.5(PLCG2):c.771T>C (p.His257=)
|
rs369555285
|
0.00091
|
NM_003126.4(SPTA1):c.5310+17A>G
|
rs371671685
|
0.00091
|
NM_003126.4(SPTA1):c.5457A>G (p.Leu1819=)
|
rs186994154
|
0.00091
|
NM_004444.5(EPHB4):c.2484+11C>T
|
rs201432441
|
0.00091
|
NM_032415.7(CARD11):c.180G>T (p.Val60=)
|
rs117016854
|
0.00091
|
NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln)
|
rs138842207
|
0.00090
|
NM_001360016.2(G6PD):c.-9+7G>C
|
rs781989843
|
0.00090
|
NM_001370466.1(NOD2):c.552C>T (p.Ala184=)
|
rs5743269
|
0.00090
|
NM_005422.4(TECTA):c.1002C>T (p.Asp334=)
|
rs35282525
|
0.00090
|
NM_147127.5(EVC2):c.3272+7C>T
|
rs201048030
|
0.00090
|
NM_213622.4(STAMBP):c.764G>A (p.Arg255His)
|
rs146601260
|
0.00090
|
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu)
|
rs363831
|
0.00089
|
NM_001142864.4(PIEZO1):c.6164+10C>T
|
rs190051638
|
0.00089
|
NM_001142864.4(PIEZO1):c.849-10C>T
|
rs190903475
|
0.00089
|
NM_001267550.2(TTN):c.48451A>G (p.Thr16151Ala)
|
rs186497293
|
0.00089
|
NM_001277115.2(DNAH11):c.7811+4A>T
|
rs374167556
|
0.00089
|
NM_001395413.1(POR):c.678C>T (p.Ala226=)
|
rs72557906
|
0.00089
|
NM_004281.4(BAG3):c.1503C>A (p.Val501=)
|
rs147277075
|
0.00089
|
NM_014874.4(MFN2):c.1641C>T (p.Leu547=)
|
rs140924661
|
0.00089
|
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=)
|
rs148240825
|
0.00089
|
NM_000038.6(APC):c.6821C>T (p.Ala2274Val)
|
rs34919187
|
0.00088
|
NM_000059.4(BRCA2):c.5768A>C (p.Asp1923Ala)
|
rs45491005
|
0.00088
|
NM_000465.4(BARD1):c.90T>A (p.Gly30=)
|
rs150354152
|
0.00088
|
NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=)
|
rs372702466
|
0.00088
|
NM_001267550.2(TTN):c.32462C>T (p.Pro10821Leu)
|
rs146400809
|
0.00088
|
NM_001267550.2(TTN):c.41010T>C (p.Asp13670=)
|
rs193191368
|
0.00088
|
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser)
|
rs150516929
|
0.00088
|
NM_002972.4(SBF1):c.898-4G>A
|
rs377428323
|
0.00088
|
NM_003978.5(PSTPIP1):c.418-20A>G
|
rs545542379
|
0.00088
|
NM_006017.3(PROM1):c.714A>G (p.Gly238=)
|
rs201662148
|
0.00088
|
NM_032415.7(CARD11):c.2060C>T (p.Ala687Val)
|
rs41493047
|
0.00088
|
NM_053025.4(MYLK):c.3832-6C>T
|
rs185681684
|
0.00088
|
NM_000088.4(COL1A1):c.4181A>G (p.Asn1394Ser)
|
rs147266928
|
0.00087
|
NM_000546.6(TP53):c.994-17C>T
|
rs368691910
|
0.00087
|
NM_001142864.4(PIEZO1):c.4668+12C>T
|
rs368128554
|
0.00087
|
NM_001267550.2(TTN):c.95205C>T (p.Asp31735=)
|
rs373182578
|
0.00087
|
NM_004415.4(DSP):c.7734C>T (p.Ser2578=)
|
rs28763970
|
0.00087
|
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser)
|
rs193922380
|
0.00086
|
NM_000329.3(RPE65):c.1129-14A>G
|
rs113329701
|
0.00086
|
NM_000492.4(CFTR):c.4243-20A>G
|
rs138025486
|
0.00086
|
NM_000535.7(PMS2):c.251-20T>G
|
rs149343081
|
0.00086
|
NM_001370466.1(NOD2):c.1707G>A (p.Thr569=)
|
rs104895437
|
0.00086
|
NM_001844.5(COL2A1):c.507C>T (p.Pro169=)
|
rs143851987
|
0.00086
|
NM_002907.4(RECQL):c.1631A>T (p.Lys544Met)
|
rs74067193
|
0.00086
|
NM_003073.5(SMARCB1):c.500+24C>G
|
rs199737164
|
0.00086
|
NM_005529.7(HSPG2):c.8381G>A (p.Arg2794Gln)
|
rs141563188
|
0.00086
|
NM_000088.4(COL1A1):c.3993C>T (p.Thr1331=)
|
rs148659814
|
0.00085
|
NM_000558.5(HBA1):c.396T>C (p.Ser132=)
|
rs149264789
|
0.00085
|
NM_001142864.4(PIEZO1):c.4997C>T (p.Ala1666Val)
|
rs561397138
|
0.00085
|
NM_001190787.3(MCIDAS):c.162G>T (p.Gly54=)
|
rs190259474
|
0.00085
|
NM_001457.4(FLNB):c.2494G>A (p.Ala832Thr)
|
rs114804033
|
0.00085
|
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe)
|
rs145393807
|
0.00085
|
NM_178452.6(DNAAF1):c.1354C>A (p.Pro452Thr)
|
rs145680314
|
0.00085
|
NM_000178.4(GSS):c.1253G>A (p.Arg418Gln)
|
rs150141794
|
0.00084
|
NM_001142864.4(PIEZO1):c.5874C>T (p.Thr1958=)
|
rs150214594
|
0.00084
|
NM_004655.4(AXIN2):c.1985T>C (p.Leu662Pro)
|
rs142476324
|
0.00084
|
NM_005529.7(HSPG2):c.10917C>T (p.Tyr3639=)
|
rs111558823
|
0.00084
|
NM_000238.4(KCNH2):c.51C>G (p.Thr17=)
|
rs144338227
|
0.00083
|
NM_001244008.2(KIF1A):c.2117-20C>T
|
rs200852469
|
0.00083
|
NM_001375808.2(LPIN2):c.1876C>T (p.Pro626Ser)
|
rs150806357
|
0.00083
|
NM_002473.6(MYH9):c.1242C>T (p.Ile414=)
|
rs138436678
|
0.00083
|
NM_002907.4(RECQL):c.1099-17A>G
|
rs369816935
|
0.00083
|
NM_003036.4(SKI):c.216C>T (p.Pro72=)
|
rs756778048
|
0.00083
|
NM_003322.6(TULP1):c.190+20C>T
|
rs563158279
|
0.00083
|
NM_004415.4(DSP):c.741G>A (p.Ala247=)
|
rs2806234
|
0.00083
|
NM_005529.7(HSPG2):c.7096G>A (p.Gly2366Arg)
|
rs140476180
|
0.00083
|
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe)
|
rs137961578
|
0.00083
|
NM_014639.4(SKIC3):c.3093-9A>G
|
rs201396030
|
0.00083
|
NM_014874.4(MFN2):c.1452G>A (p.Thr484=)
|
rs150043585
|
0.00083
|
NM_001037.5(SCN1B):c.351C>T (p.Gly117=)
|
rs3746255
|
0.00082
|
NM_001127671.2(LIFR):c.2934G>A (p.Gln978=)
|
rs148354076
|
0.00082
|
NM_005751.5(AKAP9):c.5369T>G (p.Val1790Gly)
|
rs151021935
|
0.00082
|
NM_022489.4(INF2):c.1950-10C>T
|
rs199987321
|
0.00082
|
NM_000142.5(FGFR3):c.1923C>T (p.Asp641=)
|
rs148104605
|
0.00081
|
NM_000352.6(ABCC8):c.4198+18C>T
|
rs373178978
|
0.00081
|
NM_000365.6(TPI1):c.366C>T (p.Leu122=)
|
rs138131191
|
0.00081
|
NM_000435.3(NOTCH3):c.1607-5C>A
|
rs372869012
|
0.00081
|
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)
|
rs150792276
|
0.00081
|
NM_001081.4(CUBN):c.7210+9A>G
|
rs117711403
|
0.00081
|
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)
|
rs200130356
|
0.00081
|
NM_001148.6(ANK2):c.7397G>A (p.Arg2466His)
|
rs142078935
|
0.00081
|
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=)
|
rs193022702
|
0.00081
|
NM_001374353.1(GLI2):c.4030G>T (p.Val1344Leu)
|
rs145939921
|
0.00081
|
NM_001377.3(DYNC2H1):c.10845G>A (p.Pro3615=)
|
rs187451323
|
0.00081
|
NM_001999.4(FBN2):c.2427T>A (p.Ile809=)
|
rs139686090
|
0.00081
|
NM_153676.4(USH1C):c.114C>T (p.Asp38=)
|
rs137962152
|
0.00081
|
NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu)
|
rs142085247
|
0.00080
|
NM_001110556.2(FLNA):c.3805+16G>A
|
rs201016252
|
0.00080
|
NM_001114753.3(ENG):c.617G>C (p.Gly206Ala)
|
rs201393380
|
0.00080
|
NM_001142864.4(PIEZO1):c.3602C>T (p.Thr1201Met)
|
rs372935580
|
0.00080
|
NM_001199397.3(NEK1):c.2940G>A (p.Ser980=)
|
rs56252746
|
0.00080
|
NM_001277115.2(DNAH11):c.13049+15C>T
|
rs200860431
|
0.00080
|
NM_080860.4(RSPH1):c.877+7T>A
|
rs116369489
|
0.00080
|
NM_000540.3(RYR1):c.10119G>A (p.Val3373=)
|
rs140689610
|
0.00079
|
NM_001267550.2(TTN):c.45174C>T (p.Gly15058=)
|
rs372609980
|
0.00079
|
NM_001267550.2(TTN):c.88476C>G (p.Thr29492=)
|
rs190406444
|
0.00079
|
NM_001291415.2(KDM6A):c.1907C>T (p.Thr636Met)
|
rs141353229
|
0.00079
|
NM_004551.3(NDUFS3):c.99G>T (p.Pro33=)
|
rs148226917
|
0.00079
|
NM_005422.4(TECTA):c.2367+9C>T
|
rs368080945
|
0.00079
|
NM_005529.7(HSPG2):c.13145C>A (p.Ala4382Asp)
|
rs116316900
|
0.00079
|
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=)
|
rs373081328
|
0.00078
|
NM_000209.4(PDX1):c.165C>A (p.Gly55=)
|
rs530567443
|
0.00078
|
NM_000399.5(EGR2):c.246C>G (p.Val82=)
|
rs144217451
|
0.00078
|
NM_001003800.2(BICD2):c.72C>G (p.Ala24=)
|
rs545512590
|
0.00078
|
NM_001084.5(PLOD3):c.1678G>C (p.Glu560Gln)
|
rs140879834
|
0.00078
|
NM_001105206.3(LAMA4):c.2403G>A (p.Thr801=)
|
rs142559688
|
0.00078
|
NM_001184.4(ATR):c.5987T>C (p.Met1996Thr)
|
rs150339560
|
0.00078
|
NM_001235.5(SERPINH1):c.492C>T (p.Arg164=)
|
rs150586616
|
0.00078
|
NM_001267550.2(TTN):c.54812-5A>G
|
rs375343798
|
0.00078
|
NM_001376.5(DYNC1H1):c.2719-6C>T
|
rs199763298
|
0.00078
|
NM_001376.5(DYNC1H1):c.5310C>T (p.Gly1770=)
|
rs34013442
|
0.00078
|
NM_001430.5(EPAS1):c.1104G>A (p.Met368Ile)
|
rs61757375
|
0.00078
|
NM_001918.5(DBT):c.327C>T (p.Thr109=)
|
rs138796800
|
0.00078
|
NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met)
|
rs111854563
|
0.00078
|
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=)
|
rs376049260
|
0.00078
|
NM_005982.4(SIX1):c.330G>A (p.Arg110=)
|
rs73309461
|
0.00078
|
NM_006254.4(PRKCD):c.315+9C>A
|
rs200076653
|
0.00078
|
NM_007294.4(BRCA1):c.5278-22C>T
|
rs185646848
|
0.00078
|
NM_015046.7(SETX):c.192A>G (p.Leu64=)
|
rs117326462
|
0.00078
|
NM_015139.3(SLC35D1):c.814G>A (p.Ala272Thr)
|
rs143218310
|
0.00078
|
NM_016169.4(SUFU):c.412G>A (p.Ala138Thr)
|
rs34406289
|
0.00078
|
NM_053025.4(MYLK):c.373+18C>T
|
rs140559450
|
0.00078
|
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=)
|
rs35282988
|
0.00077
|
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn)
|
rs121912705
|
0.00077
|
NM_004444.5(EPHB4):c.691C>T (p.Pro231Ser)
|
rs147563837
|
0.00077
|
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=)
|
rs148058006
|
0.00077
|
NM_032415.7(CARD11):c.3145-3C>T
|
rs200456391
|
0.00077
|
NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr)
|
rs370890951
|
0.00076
|
NM_000398.7(CYB5R3):c.471C>T (p.Phe157=)
|
rs149158903
|
0.00076
|
NM_001142864.4(PIEZO1):c.7129+3G>A
|
rs767465849
|
0.00076
|
NM_001243133.2(NLRP3):c.930C>T (p.Asp310=)
|
rs143840033
|
0.00076
|
NM_001267550.2(TTN):c.63942G>A (p.Ser21314=)
|
rs201285872
|
0.00076
|
NM_001282426.2(PIK3CG):c.1613C>T (p.Pro538Leu)
|
rs142822484
|
0.00076
|
NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser)
|
rs104895467
|
0.00076
|
NM_001458.5(FLNC):c.6175G>A (p.Val2059Met)
|
rs201333104
|
0.00076
|
NM_001807.6(CEL):c.554G>A (p.Arg185Gln)
|
rs141665160
|
0.00076
|
NM_002180.3(IGHMBP2):c.1060+8G>T
|
rs201147313
|
0.00076
|
NM_003482.4(KMT2D):c.3572C>T (p.Pro1191Leu)
|
rs112236653
|
0.00076
|
NM_004655.4(AXIN2):c.270C>T (p.Asp90=)
|
rs141655687
|
0.00076
|
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr)
|
rs146517083
|
0.00076
|
NM_015046.7(SETX):c.81C>T (p.Ser27=)
|
rs149229231
|
0.00076
|
NM_032578.4(MYPN):c.2228C>T (p.Pro743Leu)
|
rs138583865
|
0.00076
|
NM_000288.4(PEX7):c.339+10A>G
|
rs374668045
|
0.00075
|
NM_000321.3(RB1):c.2566G>A (p.Asp856Asn)
|
rs149359120
|
0.00075
|
NM_001110556.2(FLNA):c.3064C>G (p.Pro1022Ala)
|
rs200150148
|
0.00075
|
NM_004655.4(AXIN2):c.1168A>G (p.Ser390Gly)
|
rs139871607
|
0.00075
|
NM_022124.6(CDH23):c.4512C>G (p.Thr1504=)
|
rs562273075
|
0.00075
|
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr)
|
rs28897708
|
0.00074
|
NM_000316.3(PTH1R):c.313+4C>T
|
rs200207404
|
0.00074
|
NM_000530.8(MPZ):c.504G>A (p.Val168=)
|
rs145592910
|
0.00074
|
NM_001105206.3(LAMA4):c.1959T>C (p.Asp653=)
|
rs143269044
|
0.00074
|
NM_001151.4(SLC25A4):c.252C>T (p.Thr84=)
|
rs145413043
|
0.00074
|
NM_001267550.2(TTN):c.55929A>G (p.Gln18643=)
|
rs151335428
|
0.00074
|
NM_006031.6(PCNT):c.4675A>T (p.Met1559Leu)
|
rs180775012
|
0.00074
|
NM_177438.3(DICER1):c.2614G>A (p.Ala872Thr)
|
rs149242330
|
0.00074
|
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=)
|
rs117672175
|
0.00073
|
NM_000388.4(CASR):c.1285C>T (p.His429Tyr)
|
rs142818334
|
0.00073
|
NM_001370259.2(MEN1):c.-22C>A
|
rs374749001
|
0.00073
|
NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile)
|
rs41263847
|
0.00073
|
NM_003060.4(SLC22A5):c.279G>C (p.Ser93=)
|
rs377734902
|
0.00073
|
NM_006269.2(RP1):c.228C>T (p.Leu76=)
|
rs142600056
|
0.00073
|
NM_000535.7(PMS2):c.2149G>A (p.Val717Met)
|
rs201671325
|
0.00072
|
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp)
|
rs138081804
|
0.00072
|
NM_003212.4(CRIPTO):c.325G>C (p.Asp109His)
|
rs148619685
|
0.00072
|
NM_138295.5(PKD1L1):c.6898G>A (p.Val2300Ile)
|
rs560253616
|
0.00072
|
NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu)
|
rs1805125
|
0.00071
|
NM_001035.3(RYR2):c.1134C>T (p.Asp378=)
|
rs193922621
|
0.00071
|
NM_001142864.4(PIEZO1):c.6144C>T (p.Ile2048=)
|
rs372939960
|
0.00071
|
NM_001184.4(ATR):c.2226T>C (p.Cys742=)
|
rs147895945
|
0.00071
|
NM_001457.4(FLNB):c.3288C>T (p.Ser1096=)
|
rs77934864
|
0.00071
|
NM_002890.3(RASA1):c.1394G>A (p.Arg465His)
|
rs181630831
|
0.00071
|
NM_004387.4(NKX2-5):c.124G>C (p.Ala42Pro)
|
rs113818864
|
0.00071
|
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val)
|
rs149755320
|
0.00071
|
NM_006231.4(POLE):c.6004+11A>G
|
rs201591857
|
0.00071
|
NM_007272.3(CTRC):c.40+24G>A
|
rs142888713
|
0.00071
|
NM_014822.4(SEC24D):c.2135A>C (p.Asn712Thr)
|
rs146773641
|
0.00071
|
NM_021625.5(TRPV4):c.2472G>A (p.Ser824=)
|
rs149988106
|
0.00071
|
NM_000138.5(FBN1):c.2934C>G (p.Asp978Glu)
|
rs138438849
|
0.00070
|
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)
|
rs61746008
|
0.00070
|
NM_000342.4(SLC4A1):c.615T>C (p.Asp205=)
|
rs5038
|
0.00070
|
NM_000435.3(NOTCH3):c.4025C>A (p.Ala1342Asp)
|
rs888391580
|
0.00070
|
NM_004984.4(KIF5A):c.1419G>A (p.Leu473=)
|
rs139091551
|
0.00070
|
NM_005529.7(HSPG2):c.11671+5G>A
|
rs77527456
|
0.00070
|
NM_177438.3(DICER1):c.3428T>C (p.Leu1143Pro)
|
rs139786661
|
0.00070
|
NM_177438.3(DICER1):c.59C>T (p.Ala20Val)
|
rs147660793
|
0.00070
|
NM_000037.4(ANK1):c.2844C>T (p.Arg948=)
|
rs7001141
|
0.00069
|
NM_000088.4(COL1A1):c.3965G>A (p.Arg1322Lys)
|
rs138544681
|
0.00069
|
NM_001009944.3(PKD1):c.8200C>A (p.Pro2734Thr)
|
rs150568356
|
0.00069
|
NM_001142864.4(PIEZO1):c.2685C>T (p.Asn895=)
|
rs533555270
|
0.00069
|
NM_001142864.4(PIEZO1):c.5773C>T (p.Arg1925Trp)
|
rs201442593
|
0.00069
|
NM_002225.5(IVD):c.891G>A (p.Ala297=)
|
rs138427412
|
0.00069
|
NM_003659.4(AGPS):c.64G>A (p.Ala22Thr)
|
rs759572190
|
0.00069
|
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=)
|
rs4987050
|
0.00069
|
NM_144687.4(NLRP12):c.2579C>G (p.Thr860Ser)
|
rs150671525
|
0.00069
|
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr)
|
rs137854154
|
0.00068
|
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu)
|
rs2234704
|
0.00068
|
NM_001370466.1(NOD2):c.379G>A (p.Asp127Asn)
|
rs146054564
|
0.00068
|
NM_001457.4(FLNB):c.4022C>G (p.Ala1341Gly)
|
rs139269734
|
0.00068
|
NM_001854.4(COL11A1):c.489-7T>G
|
rs372555374
|
0.00068
|
NM_006031.6(PCNT):c.4140G>A (p.Ala1380=)
|
rs372175239
|
0.00068
|
NM_173477.5(USH1G):c.1012G>A (p.Gly338Arg)
|
rs151242039
|
0.00068
|
NM_000037.4(ANK1):c.1404+15C>T
|
rs201598401
|
0.00067
|
NM_000071.3(CBS):c.829-13G>A
|
rs201106576
|
0.00067
|
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala)
|
rs63751005
|
0.00067
|
NM_000264.5(PTCH1):c.3633C>G (p.Pro1211=)
|
rs56007343
|
0.00067
|
NM_000455.5(STK11):c.597+14del
|
rs536282050
|
0.00067
|
NM_000478.6(ALPL):c.612C>T (p.Ile204=)
|
rs141448778
|
0.00067
|
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys)
|
rs146868519
|
0.00067
|
NM_001130823.3(DNMT1):c.2472G>A (p.Thr824=)
|
rs45484792
|
0.00067
|
NM_001844.5(COL2A1):c.3384C>T (p.Gly1128=)
|
rs145884117
|
0.00067
|
NM_153717.3(EVC):c.2322G>C (p.Ala774=)
|
rs150373930
|
0.00067
|
NM_000059.4(BRCA2):c.-15A>C
|
rs138705202
|
0.00066
|
NM_000088.4(COL1A1):c.3099+7T>C
|
rs201682029
|
0.00066
|
NM_000179.3(MSH6):c.1665A>G (p.Ala555=)
|
rs146785465
|
0.00066
|
NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr)
|
rs45563942
|
0.00066
|
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met)
|
rs72648237
|
0.00066
|
NM_001457.4(FLNB):c.4233C>G (p.Phe1411Leu)
|
rs143831841
|
0.00066
|
NM_002972.4(SBF1):c.2034G>A (p.Thr678=)
|
rs139798340
|
0.00066
|
NM_004006.3(DMD):c.4233+2C>T
|
rs147474070
|
0.00066
|
NM_005529.7(HSPG2):c.12238-18G>A
|
rs369294765
|
0.00066
|
NM_005633.4(SOS1):c.3391+7A>G
|
rs201982464
|
0.00066
|
NM_000342.4(SLC4A1):c.884G>A (p.Arg295His)
|
rs140424071
|
0.00065
|
NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=)
|
rs148795690
|
0.00065
|
NM_001142864.4(PIEZO1):c.1495G>A (p.Val499Ile)
|
rs530486445
|
0.00065
|
NM_001148.6(ANK2):c.6206G>A (p.Arg2069His)
|
rs149645600
|
0.00065
|
NM_002180.3(IGHMBP2):c.548-10T>G
|
rs139207271
|
0.00065
|
NM_002474.3(MYH11):c.633+1942T>C
|
rs199755371
|
0.00065
|
NM_003036.4(SKI):c.1593T>C (p.Pro531=)
|
rs144279718
|
0.00065
|
NM_005529.7(HSPG2):c.3794-3C>A
|
rs141000672
|
0.00065
|
NM_005751.5(AKAP9):c.10254G>C (p.Gln3418His)
|
rs61757663
|
0.00065
|
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=)
|
rs142106322
|
0.00065
|
NM_000037.4(ANK1):c.2196+6G>A
|
rs200761553
|
0.00064
|
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser)
|
rs147936946
|
0.00064
|
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp)
|
rs41557217
|
0.00064
|
NM_000302.4(PLOD1):c.804C>T (p.Thr268=)
|
rs140758113
|
0.00064
|
NM_001005373.4(LRSAM1):c.406+15G>T
|
rs201808404
|
0.00064
|
NM_001148.6(ANK2):c.8979A>G (p.Ile2993Met)
|
rs112252825
|
0.00064
|
NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala)
|
rs377289817
|
0.00064
|
NM_001377.3(DYNC2H1):c.1135-11_1135-8del
|
rs551487728
|
0.00064
|
NM_001377.3(DYNC2H1):c.5449A>G (p.Met1817Val)
|
rs200208000
|
0.00064
|
NM_002834.5(PTPN11):c.526-8C>A
|
rs184804143
|
0.00064
|
NM_004655.4(AXIN2):c.1250C>T (p.Ala417Val)
|
rs201460658
|
0.00064
|
NM_012186.3(FOXE3):c.929G>A (p.Gly310Asp)
|
rs571095192
|
0.00064
|
NM_198859.4(PRICKLE2):c.1314G>C (p.Gln438His)
|
rs202170644
|
0.00064
|
NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe)
|
rs150528041
|
0.00064
|
NM_000037.4(ANK1):c.4022C>T (p.Ser1341Leu)
|
rs145562489
|
0.00063
|
NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp)
|
rs148046938
|
0.00063
|
NM_000719.7(CACNA1C):c.5451C>T (p.His1817=)
|
rs113239186
|
0.00063
|
NM_001195248.2(APTX):c.513G>A (p.Leu171=)
|
rs140888559
|
0.00063
|
NM_001199397.3(NEK1):c.2137G>A (p.Val713Met)
|
rs199827465
|
0.00063
|
NM_001267550.2(TTN):c.72587G>A (p.Arg24196His)
|
rs200317412
|
0.00063
|
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys)
|
rs56341835
|
0.00063
|
NM_001355436.2(SPTB):c.5855T>C (p.Ile1952Thr)
|
rs138039383
|
0.00063
|
NM_001377.3(DYNC2H1):c.7708+9A>G
|
rs375081757
|
0.00063
|
NM_032578.4(MYPN):c.2925+18C>T
|
rs372714890
|
0.00063
|
NM_001173467.3(SP7):c.1272G>A (p.Glu424=)
|
rs182820275
|
0.00062
|
NM_001366110.1(PAX4):c.1013C>T (p.Ala338Val)
|
rs2233583
|
0.00062
|
NM_001844.5(COL2A1):c.3723C>T (p.Ala1241=)
|
rs200993187
|
0.00062
|
NM_003659.4(AGPS):c.1380A>C (p.Pro460=)
|
rs148418568
|
0.00062
|
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly)
|
rs147000526
|
0.00062
|
NM_005529.7(HSPG2):c.732A>G (p.Thr244=)
|
rs139842104
|
0.00062
|
NM_000088.4(COL1A1):c.1461+13G>T
|
rs371161009
|
0.00061
|
NM_001009944.3(PKD1):c.3369C>T (p.Arg1123=)
|
rs143449093
|
0.00061
|
NM_001009944.3(PKD1):c.4856C>T (p.Ser1619Phe)
|
rs146723506
|
0.00061
|
NM_001142864.4(PIEZO1):c.635-4G>A
|
rs372188504
|
0.00061
|
NM_001244008.2(KIF1A):c.4749C>T (p.Ser1583=)
|
rs371737085
|
0.00061
|
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala)
|
rs200771189
|
0.00061
|
NM_001378454.1(ALMS1):c.11223G>A (p.Glu3741=)
|
rs28730859
|
0.00061
|
NM_001943.5(DSG2):c.852T>C (p.Asn284=)
|
rs62095193
|
0.00061
|
NM_002180.3(IGHMBP2):c.1290C>T (p.Tyr430=)
|
rs140654955
|
0.00061
|
NM_002474.3(MYH11):c.2049C>T (p.His683=)
|
rs150924100
|
0.00061
|
NM_003060.4(SLC22A5):c.1441G>A (p.Val481Ile)
|
rs11568513
|
0.00061
|
NM_005751.5(AKAP9):c.10118C>A (p.Ser3373Tyr)
|
rs140470576
|
0.00061
|
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr)
|
rs191645600
|
0.00061
|
NM_017802.4(DNAAF5):c.640C>G (p.Gln214Glu)
|
rs149980915
|
0.00061
|
NM_018979.4(WNK1):c.4354A>G (p.Thr1452Ala)
|
rs142543401
|
0.00061
|
NM_032415.7(CARD11):c.2670G>A (p.Ser890=)
|
rs146545469
|
0.00061
|
NM_138477.4(CDAN1):c.2743T>C (p.Leu915=)
|
rs149472555
|
0.00061
|
NM_203486.3(DLL3):c.153C>T (p.Ser51=)
|
rs373980582
|
0.00061
|
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val)
|
rs150151955
|
0.00060
|
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser)
|
rs189557655
|
0.00060
|
NM_000455.5(STK11):c.945G>A (p.Pro315=)
|
rs376329042
|
0.00060
|
NM_000552.5(VWF):c.3719C>T (p.Pro1240Leu)
|
rs150576611
|
0.00060
|
NM_001098512.3(PRKG1):c.39G>A (p.Met13Ile)
|
rs202017913
|
0.00060
|
NM_001142864.4(PIEZO1):c.3699+6C>T
|
rs147726156
|
0.00060
|
NM_001267550.2(TTN):c.59322A>G (p.Pro19774=)
|
rs188063446
|
0.00060
|
NM_001458.5(FLNC):c.1519G>A (p.Gly507Arg)
|
rs189525930
|
0.00060
|
NM_003659.4(AGPS):c.637+13C>T
|
rs182602770
|
0.00060
|
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg)
|
rs143326964
|
0.00060
|
NM_006031.6(PCNT):c.5815C>T (p.Arg1939Trp)
|
rs575313866
|
0.00060
|
NM_007272.3(CTRC):c.640-14C>T
|
rs202049497
|
0.00060
|
NM_014236.4(GNPAT):c.2031T>C (p.Thr677=)
|
rs150459993
|
0.00060
|
NM_019844.4(SLCO1B3):c.1593A>G (p.Thr531=)
|
rs142694767
|
0.00060
|
NM_000059.4(BRCA2):c.10121C>T (p.Thr3374Ile)
|
rs56309455
|
0.00059
|
NM_000088.4(COL1A1):c.3571C>G (p.Pro1191Ala)
|
rs142570406
|
0.00059
|
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys)
|
rs63750897
|
0.00059
|
NM_000431.4(MVK):c.441C>T (p.Ala147=)
|
rs138342076
|
0.00059
|
NM_000435.3(NOTCH3):c.6532C>T (p.Pro2178Ser)
|
rs751951476
|
0.00059
|
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val)
|
rs200509641
|
0.00059
|
NM_001142864.4(PIEZO1):c.6205G>A (p.Val2069Met)
|
rs199752762
|
0.00059
|
NM_001277115.2(DNAH11):c.10740C>G (p.Arg3580=)
|
rs114916492
|
0.00059
|
NM_001376.5(DYNC1H1):c.12258C>T (p.Thr4086=)
|
rs141242095
|
0.00059
|
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp)
|
rs111033222
|
0.00059
|
NM_006031.6(PCNT):c.6151-9C>T
|
rs200571944
|
0.00059
|
NM_015915.5(ATL1):c.669C>T (p.Tyr223=)
|
rs146975855
|
0.00059
|
NM_177438.3(DICER1):c.5203C>T (p.Leu1735=)
|
rs188609628
|
0.00059
|
NM_000093.5(COL5A1):c.341C>A (p.Ala114Asp)
|
rs147589613
|
0.00058
|
NM_000093.5(COL5A1):c.996C>T (p.Asp332=)
|
rs144763302
|
0.00058
|
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=)
|
rs200663253
|
0.00058
|
NM_000257.4(MYH7):c.2514G>A (p.Pro838=)
|
rs45560638
|
0.00058
|
NM_000518.5(HBB):c.316-37G>T
|
rs193922559
|
0.00058
|
NM_000719.7(CACNA1C):c.4317C>T (p.Asn1439=)
|
rs183192651
|
0.00058
|
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=)
|
rs146300431
|
0.00058
|
NM_001395413.1(POR):c.1806+12G>A
|
rs371432868
|
0.00058
|
NM_004239.4(TRIP11):c.5887G>A (p.Ala1963Thr)
|
rs61742059
|
0.00058
|
NM_004329.3(BMPR1A):c.1419T>G (p.Val473=)
|
rs145756629
|
0.00058
|
NM_022114.4(PRDM16):c.2603+6C>T
|
rs374549827
|
0.00058
|
NM_022489.4(INF2):c.*16C>T
|
rs199912466
|
0.00058
|
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro)
|
rs149522412
|
0.00058
|
NM_000037.4(ANK1):c.1467G>A (p.Leu489=)
|
rs148165519
|
0.00057
|
NM_000037.4(ANK1):c.1483A>C (p.Asn495His)
|
rs143839208
|
0.00057
|
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His)
|
rs144797861
|
0.00057
|
NM_000093.5(COL5A1):c.2096C>T (p.Thr699Met)
|
rs142313124
|
0.00057
|
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser)
|
rs113663584
|
0.00057
|
NM_001370466.1(NOD2):c.1330C>T (p.Arg444Cys)
|
rs1078327
|
0.00057
|
NM_001458.5(FLNC):c.2390-8C>G
|
rs146063718
|
0.00057
|
NM_001753.5(CAV1):c.463G>A (p.Val155Ile)
|
rs150368249
|
0.00057
|
NM_002474.3(MYH11):c.12G>A (p.Lys4=)
|
rs112650390
|
0.00057
|
NM_005422.4(TECTA):c.4611C>T (p.Pro1537=)
|
rs138477419
|
0.00057
|
NM_016938.5(EFEMP2):c.27C>G (p.Pro9=)
|
rs144817331
|
0.00057
|
NM_018706.7(DHTKD1):c.1041G>A (p.Thr347=)
|
rs181104203
|
0.00057
|
NM_020822.3(KCNT1):c.3685A>G (p.Thr1229Ala)
|
rs74533482
|
0.00057
|
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly)
|
rs148725540
|
0.00056
|
NM_001142864.4(PIEZO1):c.997C>T (p.Arg333Cys)
|
rs143004911
|
0.00056
|
NM_001267550.2(TTN):c.296-14T>C
|
rs199951296
|
0.00056
|
NM_001267550.2(TTN):c.68792G>A (p.Ser22931Asn)
|
rs201567815
|
0.00056
|
NM_001267550.2(TTN):c.92362G>A (p.Gly30788Ser)
|
rs199891245
|
0.00056
|
NM_001370658.1(BTD):c.252T>C (p.Asp84=)
|
rs138545268
|
0.00056
|
NM_001378964.1(CDON):c.1263T>C (p.Phe421=)
|
rs191544852
|
0.00056
|
NM_001844.5(COL2A1):c.195C>T (p.Asp65=)
|
rs202210896
|
0.00056
|
NM_002474.3(MYH11):c.429G>A (p.Lys143=)
|
rs200672270
|
0.00056
|
NM_004656.4(BAP1):c.294C>T (p.Ser98=)
|
rs140641333
|
0.00056
|
NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp)
|
rs140929639
|
0.00056
|
NM_004999.4(MYO6):c.875T>C (p.Leu292Ser)
|
rs144038082
|
0.00056
|
NM_015340.4(LARS2):c.1989G>T (p.Arg663=)
|
rs139111439
|
0.00056
|
NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly)
|
rs201354264
|
0.00056
|
NM_001009944.3(PKD1):c.12139-5C>T
|
rs146430229
|
0.00055
|
NM_001127671.2(LIFR):c.3087A>G (p.Arg1029=)
|
rs138418444
|
0.00055
|
NM_001370466.1(NOD2):c.2057G>A (p.Arg686His)
|
rs104895483
|
0.00055
|
NM_004612.4(TGFBR1):c.46G>A (p.Val16Met)
|
rs1021523079
|
0.00055
|
NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr)
|
rs116952709
|
0.00055
|
NM_000089.4(COL1A2):c.3613C>T (p.Arg1205Trp)
|
rs150124840
|
0.00054
|
NM_000093.5(COL5A1):c.597C>G (p.Ile199Met)
|
rs147008954
|
0.00054
|
NM_000218.3(KCNQ1):c.1332G>A (p.Thr444=)
|
rs144985256
|
0.00054
|
NM_000350.3(ABCA4):c.981C>T (p.Pro327=)
|
rs61753057
|
0.00054
|
NM_002471.4(MYH6):c.3573C>T (p.Ala1191=)
|
rs727505358
|
0.00054
|
NM_004006.3(DMD):c.3020C>T (p.Ser1007Leu)
|
rs144732570
|
0.00054
|
NM_006579.3(EBP):c.512G>A (p.Arg171His)
|
rs144209735
|
0.00054
|
NM_007194.4(CHEK2):c.793-11G>A
|
rs5997387
|
0.00054
|
NM_007294.4(BRCA1):c.301+8T>C
|
rs80358101
|
0.00054
|
NM_015271.5(TRIM2):c.2055G>A (p.Lys685=)
|
rs138490175
|
0.00054
|
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)
|
rs34640941
|
0.00053
|
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=)
|
rs148024160
|
0.00053
|
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn)
|
rs12720457
|
0.00053
|
NM_000264.5(PTCH1):c.1847+14C>T
|
rs202007968
|
0.00053
|
NM_000455.5(STK11):c.426C>T (p.Ser142=)
|
rs758448869
|
0.00053
|
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln)
|
rs147992238
|
0.00053
|
NM_001130823.3(DNMT1):c.3492C>T (p.Cys1164=)
|
rs140951214
|
0.00053
|
NM_001142864.4(PIEZO1):c.7153G>A (p.Val2385Met)
|
rs369319123
|
0.00053
|
NM_001330.5(CTF1):c.280C>T (p.Leu94=)
|
rs397516648
|
0.00053
|
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser)
|
rs140985224
|
0.00053
|
NM_002180.3(IGHMBP2):c.2360C>T (p.Pro787Leu)
|
rs141594765
|
0.00053
|
NM_002472.3(MYH8):c.1731G>C (p.Glu577Asp)
|
rs75160168
|
0.00053
|
NM_002474.3(MYH11):c.3031T>C (p.Leu1011=)
|
rs112861184
|
0.00053
|
NM_002972.4(SBF1):c.3905-9C>T
|
rs574807761
|
0.00053
|
NM_005529.7(HSPG2):c.11256G>A (p.Leu3752=)
|
rs144122107
|
0.00053
|
NM_006231.4(POLE):c.6495C>T (p.Arg2165=)
|
rs114778730
|
0.00053
|
NM_017636.4(TRPM4):c.3641-17T>G
|
rs369065473
|
0.00053
|
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=)
|
rs138986228
|
0.00053
|
NM_031942.5(CDCA7):c.745A>C (p.Arg249=)
|
rs146148251
|
0.00053
|
NM_000478.6(ALPL):c.468C>T (p.Asp156=)
|
rs143621566
|
0.00052
|
NM_001105206.3(LAMA4):c.674C>T (p.Ala225Val)
|
rs149615862
|
0.00052
|
NM_001148.6(ANK2):c.9046G>A (p.Glu3016Lys)
|
rs149963885
|
0.00052
|
NM_001177316.2(SLC34A3):c.1453C>T (p.Arg485Cys)
|
rs145029982
|
0.00052
|
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=)
|
rs376810671
|
0.00052
|
NM_002474.3(MYH11):c.1732A>G (p.Ile578Val)
|
rs111936548
|
0.00052
|
NM_133459.4(CCBE1):c.265+8A>C
|
rs181010692
|
0.00052
|
NM_000018.4(ACADVL):c.1473A>G (p.Leu491=)
|
rs150518187
|
0.00051
|
NM_000071.3(CBS):c.829-14C>T
|
rs370697155
|
0.00051
|
NM_000089.4(COL1A2):c.595-16A>G
|
rs143041120
|
0.00051
|
NM_000095.3(COMP):c.218-7C>G
|
rs554031979
|
0.00051
|
NM_000178.4(GSS):c.1203C>T (p.Ile401=)
|
rs138574949
|
0.00051
|
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu)
|
rs121912759
|
0.00051
|
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe)
|
rs200078204
|
0.00051
|
NM_001009944.3(PKD1):c.6979C>T (p.Arg2327Trp)
|
rs184394342
|
0.00051
|
NM_001009944.3(PKD1):c.9506G>A (p.Arg3169Gln)
|
rs375378535
|
0.00051
|
NM_001029883.3(PCARE):c.1582C>T (p.Arg528Cys)
|
rs80151896
|
0.00051
|
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=)
|
rs370332882
|
0.00051
|
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met)
|
rs200236750
|
0.00051
|
NM_001110556.2(FLNA):c.6907+14G>T
|
rs199934017
|
0.00051
|
NM_001142864.4(PIEZO1):c.4371G>A (p.Ala1457=)
|
rs565293295
|
0.00051
|
NM_001243279.3(ACSF3):c.978-7C>T
|
rs190927208
|
0.00051
|
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu)
|
rs201571580
|
0.00051
|
NM_001282426.2(PIK3CG):c.2760+20C>T
|
rs200932463
|
0.00051
|
NM_001366110.1(PAX4):c.116G>A (p.Arg39Gln)
|
rs115887120
|
0.00051
|
NM_001370466.1(NOD2):c.2672C>A (p.Ala891Asp)
|
rs104895452
|
0.00051
|
NM_001375808.2(LPIN2):c.1043C>T (p.Pro348Leu)
|
rs34676691
|
0.00051
|
NM_001377.3(DYNC2H1):c.33C>T (p.Leu11=)
|
rs373977008
|
0.00051
|
NM_002667.5(PLN):c.27C>T (p.Arg9=)
|
rs145623013
|
0.00051
|
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys)
|
rs140592056
|
0.00051
|
NM_005529.7(HSPG2):c.1557G>A (p.Leu519=)
|
rs149710901
|
0.00051
|
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys)
|
rs77130927
|
0.00051
|
NM_015340.4(LARS2):c.2211T>C (p.Ser737=)
|
rs371382425
|
0.00051
|
NM_016203.4(PRKAG2):c.1318C>T (p.His440Tyr)
|
rs201878539
|
0.00051
|
NM_019844.4(SLCO1B3):c.1857A>T (p.Val619=)
|
rs143827641
|
0.00051
|
NM_021625.5(TRPV4):c.769C>G (p.Leu257Val)
|
rs56217500
|
0.00051
|
NM_000132.4(F8):c.5430T>G (p.Ser1810=)
|
rs142177821
|
0.00050
|
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu)
|
rs45496496
|
0.00050
|
NM_001013703.4(EIF2AK4):c.744-11T>G
|
rs201918333
|
0.00050
|
NM_001360016.2(G6PD):c.1457+31C>G
|
rs373239864
|
0.00050
|
NM_006254.4(PRKCD):c.1362C>T (p.Ala454=)
|
rs41295962
|
0.00050
|
NM_024753.5(TTC21B):c.1650A>G (p.Glu550=)
|
rs145926679
|
0.00050
|
NM_198253.3(TERT):c.2106G>A (p.Pro702=)
|
rs151055240
|
0.00050
|
NM_203486.3(DLL3):c.1356C>T (p.Val452=)
|
rs554268445
|
0.00050
|
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser)
|
rs146166400
|
0.00049
|
NM_000540.3(RYR1):c.9261C>T (p.Ile3087=)
|
rs56338790
|
0.00049
|
NM_001148.6(ANK2):c.231G>A (p.Val77=)
|
rs149699185
|
0.00049
|
NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly)
|
rs147946775
|
0.00049
|
NM_001267550.2(TTN):c.31806C>T (p.Pro10602=)
|
rs370080995
|
0.00049
|
NM_001395413.1(POR):c.390C>T (p.Asn130=)
|
rs181837747
|
0.00049
|
NM_002230.4(JUP):c.1054+7A>T
|
rs371988639
|
0.00049
|
NM_003126.4(SPTA1):c.3960C>T (p.Asp1320=)
|
rs186415745
|
0.00049
|
NM_004168.4(SDHA):c.723C>T (p.Asp241=)
|
rs146653693
|
0.00049
|
NM_004239.4(TRIP11):c.4620T>C (p.Val1540=)
|
rs72705400
|
0.00049
|
NM_012418.4(FSCN2):c.538C>T (p.Arg180Trp)
|
rs200332556
|
0.00049
|
NM_020297.4(ABCC9):c.4512+16C>T
|
rs376147813
|
0.00049
|
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly)
|
rs28897745
|
0.00048
|
NM_000098.3(CPT2):c.1598T>C (p.Val533Ala)
|
rs144703247
|
0.00048
|
NM_000142.5(FGFR3):c.1959+8C>T
|
rs371666188
|
0.00048
|
NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys)
|
rs3729712
|
0.00048
|
NM_000435.3(NOTCH3):c.945C>T (p.Ile315=)
|
rs116239440
|
0.00048
|
NM_001013703.4(EIF2AK4):c.3123T>G (p.Pro1041=)
|
rs55727287
|
0.00048
|
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly)
|
rs200525962
|
0.00048
|
NM_001114134.2(EPB42):c.1602G>A (p.Thr534=)
|
rs149742998
|
0.00048
|
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu)
|
rs144245125
|
0.00048
|
NM_001355436.2(SPTB):c.3479G>A (p.Arg1160His)
|
rs76283214
|
0.00048
|
NM_001355436.2(SPTB):c.4075C>T (p.Arg1359Trp)
|
rs189656371
|
0.00048
|
NM_001365088.1(SLC12A6):c.2613C>T (p.Arg871=)
|
rs144297460
|
0.00048
|
NM_001370259.2(MEN1):c.1049+9C>T
|
rs200517349
|
0.00048
|
NM_001379610.1(SPINK1):c.33C>T (p.Ala11=)
|
rs147454311
|
0.00048
|
NM_002474.3(MYH11):c.3973C>G (p.Gln1325Glu)
|
rs150033906
|
0.00048
|
NM_004281.4(BAG3):c.855G>A (p.Thr285=)
|
rs147259596
|
0.00048
|
NM_018979.4(WNK1):c.915G>A (p.Thr305=)
|
rs72648609
|
0.00048
|
NM_020433.5(JPH2):c.572C>G (p.Pro191Arg)
|
rs554853074
|
0.00048
|
NM_022489.4(INF2):c.1144A>G (p.Ser382Gly)
|
rs201077878
|
0.00048
|
NM_170707.4(LMNA):c.789G>A (p.Leu263=)
|
rs148557956
|
0.00048
|
NM_000059.4(BRCA2):c.9411T>G (p.Thr3137=)
|
rs1799968
|
0.00047
|
NM_000093.5(COL5A1):c.3906+20G>A
|
rs148053413
|
0.00047
|
NM_001065.4(TNFRSF1A):c.987C>T (p.Leu329=)
|
rs138261783
|
0.00047
|
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln)
|
rs140714512
|
0.00047
|
NM_001395413.1(POR):c.633-5C>G
|
rs72555509
|
0.00047
|
NM_001999.4(FBN2):c.6841A>T (p.Ile2281Phe)
|
rs115223340
|
0.00047
|
NM_002028.4(FNTB):c.209+1976G>T
|
rs201052112
|
0.00047
|
NM_016239.4(MYO15A):c.3203G>T (p.Cys1068Phe)
|
rs189061214
|
0.00047
|
NM_016529.6(ATP8A2):c.2169G>A (p.Ser723=)
|
rs41300574
|
0.00047
|
NM_024426.6(WT1):c.1131T>C (p.Pro377=)
|
rs151034312
|
0.00047
|
NM_153717.3(EVC):c.175-18C>G
|
rs114621329
|
0.00047
|
NM_000051.4(ATM):c.1986T>C (p.Phe662=)
|
rs1800055
|
0.00046
|
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly)
|
rs138958687
|
0.00046
|
NM_000298.6(PKLR):c.507+14C>A
|
rs201156800
|
0.00046
|
NM_000492.4(CFTR):c.274-6T>C
|
rs371315549
|
0.00046
|
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys)
|
rs202029322
|
0.00046
|
NM_001110556.2(FLNA):c.3717C>T (p.Pro1239=)
|
rs372265042
|
0.00046
|
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser)
|
rs200198847
|
0.00046
|
NM_001267550.2(TTN):c.47955A>G (p.Pro15985=)
|
rs192953152
|
0.00046
|
NM_001267550.2(TTN):c.52110G>A (p.Pro17370=)
|
rs139789997
|
0.00046
|
NM_001844.5(COL2A1):c.4074+12G>T
|
rs201312340
|
0.00046
|
NM_001844.5(COL2A1):c.4350C>T (p.Ile1450=)
|
rs137948104
|
0.00046
|
NM_002474.3(MYH11):c.3816G>A (p.Glu1272=)
|
rs112990531
|
0.00046
|
NM_002863.5(PYGL):c.30G>A (p.Lys10=)
|
rs140912135
|
0.00046
|
NM_003036.4(SKI):c.1734C>T (p.Ser578=)
|
rs117443908
|
0.00046
|
NM_006363.6(SEC23B):c.1665+6T>C
|
rs371786580
|
0.00046
|
NM_006939.4(SOS2):c.1071A>G (p.Gln357=)
|
rs111961549
|
0.00046
|
NM_007272.3(CTRC):c.231-14C>T
|
rs374364850
|
0.00046
|
NM_014920.5(CILK1):c.453A>G (p.Arg151=)
|
rs149467924
|
0.00046
|
NM_021625.5(TRPV4):c.898A>G (p.Ile300Val)
|
rs114612488
|
0.00046
|
NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser)
|
rs146230559
|
0.00046
|
NM_030973.4(MED25):c.664C>T (p.Leu222=)
|
rs147538736
|
0.00046
|
NM_147127.5(EVC2):c.1452G>A (p.Leu484=)
|
rs137884710
|
0.00046
|
NM_000059.4(BRCA2):c.5879G>A (p.Cys1960Tyr)
|
rs56157628
|
0.00045
|
NM_001048174.2(MUTYH):c.914-9C>T
|
rs3219488
|
0.00045
|
NM_001142864.4(PIEZO1):c.6164+12C>T
|
rs756049905
|
0.00045
|
NM_001243133.2(NLRP3):c.1245C>T (p.Ile415=)
|
rs139852370
|
0.00045
|
NM_001244008.2(KIF1A):c.3330G>A (p.Ala1110=)
|
rs200149062
|
0.00045
|
NM_001270508.2(TNFAIP3):c.2364G>A (p.Met788Ile)
|
rs143002189
|
0.00045
|
NM_001375808.2(LPIN2):c.2568C>T (p.Leu856=)
|
rs149862905
|
0.00045
|
NM_001498.4(GCLC):c.1703-8G>A
|
rs183803178
|
0.00045
|
NM_002907.4(RECQL):c.1088A>G (p.Asn363Ser)
|
rs138663409
|
0.00045
|
NM_004004.6(GJB2):c.*1C>T
|
rs111033327
|
0.00045
|
NM_016239.4(MYO15A):c.858C>G (p.Pro286=)
|
rs200424851
|
0.00045
|
NM_020631.6(PLEKHG5):c.1236G>A (p.Thr412=)
|
rs376823275
|
0.00045
|
NM_053025.4(MYLK):c.999G>A (p.Pro333=)
|
rs13319347
|
0.00045
|
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg)
|
rs28897728
|
0.00044
|
NM_000088.4(COL1A1):c.3102T>C (p.Gly1034=)
|
rs147743501
|
0.00044
|
NM_000342.4(SLC4A1):c.457C>A (p.Leu153Met)
|
rs145041032
|
0.00044
|
NM_001009944.3(PKD1):c.7575C>T (p.Phe2525=)
|
rs144409293
|
0.00044
|
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser)
|
rs200696965
|
0.00044
|
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile)
|
rs142334798
|
0.00044
|
NM_004004.6(GJB2):c.-22-6T>C
|
rs141962118
|
0.00044
|
NM_005529.7(HSPG2):c.1654+22C>T
|
rs367553961
|
0.00044
|
NM_021939.4(FKBP10):c.1290C>T (p.Leu430=)
|
rs143450797
|
0.00044
|
NM_030777.4(SLC2A10):c.1548-19C>T
|
rs144623242
|
0.00044
|
NM_033118.4(MYLK2):c.834T>A (p.Asn278Lys)
|
rs41293104
|
0.00044
|
NM_000141.5(FGFR2):c.34G>A (p.Val12Met)
|
rs143978938
|
0.00043
|
NM_000302.4(PLOD1):c.579+17G>A
|
rs181015965
|
0.00043
|
NM_000335.5(SCN5A):c.1479G>A (p.Arg493=)
|
rs138870926
|
0.00043
|
NM_000435.3(NOTCH3):c.2411-11C>A
|
rs201130717
|
0.00043
|
NM_000548.5(TSC2):c.3610+6G>A
|
rs45517301
|
0.00043
|
NM_001105206.3(LAMA4):c.254A>G (p.Asn85Ser)
|
rs145301300
|
0.00043
|
NM_001142864.4(PIEZO1):c.1232C>T (p.Pro411Leu)
|
rs369091041
|
0.00043
|
NM_001142864.4(PIEZO1):c.1679G>A (p.Arg560Gln)
|
rs371837534
|
0.00043
|
NM_001267550.2(TTN):c.34856-17A>G
|
rs188686309
|
0.00043
|
NM_001355436.2(SPTB):c.2303G>A (p.Gly768Asp)
|
rs147712872
|
0.00043
|
NM_001377.3(DYNC2H1):c.7540+20A>G
|
rs535988847
|
0.00043
|
NM_001457.4(FLNB):c.1196A>G (p.Lys399Arg)
|
rs145673747
|
0.00043
|
NM_002972.4(SBF1):c.549+10G>A
|
rs187441948
|
0.00043
|
NM_021625.5(TRPV4):c.1539C>T (p.Gly513=)
|
rs141295418
|
0.00043
|
NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu)
|
rs140382957
|
0.00043
|
NM_000133.4(F9):c.8G>A (p.Arg3His)
|
rs148060786
|
0.00042
|
NM_000138.5(FBN1):c.2148A>G (p.Gly716=)
|
rs141039922
|
0.00042
|
NM_000891.3(KCNJ2):c.1200G>A (p.Thr400=)
|
rs201253055
|
0.00042
|
NM_001009944.3(PKD1):c.7703+23G>A
|
rs751928868
|
0.00042
|
NM_001999.4(FBN2):c.7012+7G>A
|
rs199735209
|
0.00042
|
NM_014014.5(SNRNP200):c.2800A>G (p.Thr934Ala)
|
rs149616320
|
0.00042
|
NM_144687.4(NLRP12):c.559G>A (p.Val187Met)
|
rs147355465
|
0.00042
|
NM_147127.5(EVC2):c.3468G>A (p.Leu1156=)
|
rs201460514
|
0.00042
|
NM_000337.6(SGCD):c.543T>G (p.Pro181=)
|
rs200451694
|
0.00041
|
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser)
|
rs147420365
|
0.00041
|
NM_000435.3(NOTCH3):c.3629G>A (p.Arg1210His)
|
rs35031555
|
0.00041
|
NM_000492.4(CFTR):c.3469-17T>C
|
rs199630678
|
0.00041
|
NM_001006658.3(CR2):c.1152C>T (p.Thr384=)
|
rs145709085
|
0.00041
|
NM_001267550.2(TTN):c.79863G>A (p.Thr26621=)
|
rs186402008
|
0.00041
|
NM_001270508.2(TNFAIP3):c.465G>A (p.Thr155=)
|
rs140424499
|
0.00041
|
NM_001355436.2(SPTB):c.1303G>C (p.Glu435Gln)
|
rs149521594
|
0.00041
|
NM_001370466.1(NOD2):c.1693G>A (p.Val565Met)
|
rs148683734
|
0.00041
|
NM_001370466.1(NOD2):c.258C>T (p.Asp86=)
|
rs138889062
|
0.00041
|
NM_001498.4(GCLC):c.852C>G (p.Pro284=)
|
rs17879847
|
0.00041
|
NM_001605.3(AARS1):c.1428G>C (p.Arg476=)
|
rs80257731
|
0.00041
|
NM_003978.5(PSTPIP1):c.203C>T (p.Thr68Met)
|
rs201872851
|
0.00041
|
NM_004415.4(DSP):c.2723G>A (p.Arg908His)
|
rs142494121
|
0.00041
|
NM_005428.4(VAV1):c.2161A>T (p.Met721Leu)
|
rs149330066
|
0.00041
|
NM_005902.4(SMAD3):c.207-26779C>T
|
rs539491144
|
0.00041
|
NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr)
|
rs138962786
|
0.00041
|
NM_006363.6(SEC23B):c.221+159G>A
|
rs564238712
|
0.00041
|
NM_006892.4(DNMT3B):c.1035C>T (p.Ile345=)
|
rs150148922
|
0.00041
|
NM_006939.4(SOS2):c.2317G>C (p.Asp773His)
|
rs114711076
|
0.00041
|
NM_006996.3(SLC19A2):c.1093A>T (p.Thr365Ser)
|
rs150049339
|
0.00041
|
NM_021625.5(TRPV4):c.1491+10C>T
|
rs201815805
|
0.00041
|
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)
|
rs45589637
|
0.00041
|
NM_053025.4(MYLK):c.1991A>G (p.Gln664Arg)
|
rs200273207
|
0.00041
|
NM_144687.4(NLRP12):c.2927+11G>A
|
rs376043494
|
0.00041
|
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=)
|
rs144418713
|
0.00041
|
NM_000089.4(COL1A2):c.1008C>T (p.Ala336=)
|
rs138357977
|
0.00040
|
NM_000321.3(RB1):c.411A>T (p.Glu137Asp)
|
rs3092902
|
0.00040
|
NM_000371.4(TTR):c.328C>A (p.His110Asn)
|
rs121918074
|
0.00040
|
NM_000517.6(HBA2):c.95+39C>G
|
rs1025977498
|
0.00040
|
NM_001003800.2(BICD2):c.1893C>T (p.Ile631=)
|
rs141414055
|
0.00040
|
NM_001270508.2(TNFAIP3):c.295+11T>C
|
rs367719917
|
0.00040
|
NM_002972.4(SBF1):c.1432-12G>A
|
rs377210668
|
0.00040
|
NM_004006.3(DMD):c.2490C>T (p.Asn830=)
|
rs72468679
|
0.00040
|
NM_004281.4(BAG3):c.888C>T (p.His296=)
|
rs139399890
|
0.00040
|
NM_004990.4(MARS1):c.792G>A (p.Arg264=)
|
rs141609469
|
0.00040
|
NM_005529.7(HSPG2):c.4396-5C>T
|
rs117917442
|
0.00040
|
NM_006363.6(SEC23B):c.519G>A (p.Val173=)
|
rs138314893
|
0.00040
|
NM_023110.3(FGFR1):c.1553-13G>A
|
rs17182414
|
0.00040
|
NM_053025.4(MYLK):c.3653-10_3653-8del
|
rs576620371
|
0.00040
|
NM_144687.4(NLRP12):c.2384G>A (p.Arg795Gln)
|
rs373954247
|
0.00040
|
NM_000037.4(ANK1):c.2167C>A (p.His723Asn)
|
rs150899388
|
0.00039
|
NM_000052.7(ATP7A):c.2452A>G (p.Thr818Ala)
|
rs201788154
|
0.00039
|
NM_000132.4(F8):c.6115+27C>T
|
rs375609267
|
0.00039
|
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser)
|
rs181834806
|
0.00039
|
NM_000493.4(COL10A1):c.1312G>A (p.Glu438Lys)
|
rs199868902
|
0.00039
|
NM_000535.7(PMS2):c.1560G>A (p.Ala520=)
|
rs201167814
|
0.00039
|
NM_001009944.3(PKD1):c.11015G>A (p.Arg3672Gln)
|
rs201220835
|
0.00039
|
NM_001084.5(PLOD3):c.129T>C (p.Thr43=)
|
rs138623639
|
0.00039
|
NM_001267550.2(TTN):c.59319G>A (p.Glu19773=)
|
rs367622770
|
0.00039
|
NM_001370466.1(NOD2):c.2490C>T (p.Asp830=)
|
rs144083291
|
0.00039
|
NM_001876.4(CPT1A):c.336C>T (p.Thr112=)
|
rs61731902
|
0.00039
|
NM_001999.4(FBN2):c.209T>C (p.Val70Ala)
|
rs144149249
|
0.00039
|
NM_002972.4(SBF1):c.2569+4C>T
|
rs200379541
|
0.00039
|
NM_003200.5(TCF3):c.136G>A (p.Gly46Arg)
|
rs143529809
|
0.00039
|
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile)
|
rs56105708
|
0.00039
|
NM_014874.4(MFN2):c.1827C>T (p.Ser609=)
|
rs138724074
|
0.00039
|
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser)
|
rs148174226
|
0.00039
|
NM_000051.4(ATM):c.6795C>T (p.Phe2265=)
|
rs3218699
|
0.00038
|
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg)
|
rs55801750
|
0.00038
|
NM_000088.4(COL1A1):c.1132C>G (p.Pro378Ala)
|
rs764381074
|
0.00038
|
NM_000182.5(HADHA):c.1153C>T (p.Leu385=)
|
rs139485335
|
0.00038
|
NM_000218.3(KCNQ1):c.1860C>T (p.His620=)
|
rs139893266
|
0.00038
|
NM_000251.3(MSH2):c.1511-41G>C
|
rs202215396
|
0.00038
|
NM_000398.7(CYB5R3):c.734-8C>T
|
rs371034075
|
0.00038
|
NM_001035.3(RYR2):c.11246-11del
|
rs397516503
|
0.00038
|
NM_001035.3(RYR2):c.11496C>T (p.Asp3832=)
|
rs397516505
|
0.00038
|
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys)
|
rs200092869
|
0.00038
|
NM_001142864.4(PIEZO1):c.1112T>G (p.Val371Gly)
|
rs191302762
|
0.00038
|
NM_001159702.3(FHL1):c.-26-9547G>A
|
rs192893870
|
0.00038
|
NM_001244008.2(KIF1A):c.2813G>A (p.Arg938Gln)
|
rs192102667
|
0.00038
|
NM_001605.3(AARS1):c.741G>A (p.Leu247=)
|
rs148075561
|
0.00038
|
NM_002972.4(SBF1):c.142-3C>T
|
rs191369963
|
0.00038
|
NM_003923.3(FOXH1):c.361C>A (p.Arg121=)
|
rs371301968
|
0.00038
|
NM_005184.4(CALM3):c.183C>T (p.Asn61=)
|
rs3729761
|
0.00038
|
NM_006031.6(PCNT):c.7259C>T (p.Pro2420Leu)
|
rs144633170
|
0.00038
|
NM_006736.6(DNAJB2):c.703C>G (p.Gln235Glu)
|
rs148615702
|
0.00038
|
NM_021167.5(GATAD1):c.249+13G>A
|
rs548757932
|
0.00038
|
NM_022489.4(INF2):c.2181G>A (p.Ala727=)
|
rs370830904
|
0.00038
|
NM_144687.4(NLRP12):c.1495A>G (p.Ile499Val)
|
rs146903616
|
0.00038
|
NM_000093.5(COL5A1):c.3402C>T (p.Asp1134=)
|
rs138251296
|
0.00037
|
NM_000098.3(CPT2):c.1602G>A (p.Glu534=)
|
rs148110518
|
0.00037
|
NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=)
|
rs147091980
|
0.00037
|
NM_000249.4(MLH1):c.977T>C (p.Val326Ala)
|
rs63751049
|
0.00037
|
NM_000346.4(SOX9):c.1033C>T (p.Pro345Ser)
|
rs768818630
|
0.00037
|
NM_001042492.3(NF1):c.731-6A>C
|
rs369366499
|
0.00037
|
NM_001159699.2(FHL1):c.225C>A (p.Arg75=)
|
rs143791173
|
0.00037
|
NM_003126.4(SPTA1):c.1351-4A>G
|
rs200868774
|
0.00037
|
NM_020529.3(NFKBIA):c.78G>A (p.Leu26=)
|
rs8192285
|
0.00037
|
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val)
|
rs200512504
|
0.00037
|
NM_032415.7(CARD11):c.3145-14C>T
|
rs201827805
|
0.00037
|
NM_032578.4(MYPN):c.1662A>C (p.Ala554=)
|
rs71584488
|
0.00037
|
NM_144997.7(FLCN):c.619-20C>T
|
rs202217257
|
0.00037
|
NM_000178.4(GSS):c.468C>T (p.Ala156=)
|
rs79420079
|
0.00036
|
NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly)
|
rs140952583
|
0.00036
|
NM_000435.3(NOTCH3):c.1194C>T (p.Gly398=)
|
rs140368657
|
0.00036
|
NM_000492.4(CFTR):c.1766+73T>G
|
rs397508299
|
0.00036
|
NM_000719.7(CACNA1C):c.5639G>A (p.Arg1880Gln)
|
rs182208896
|
0.00036
|
NM_001065.4(TNFRSF1A):c.369C>T (p.Thr123=)
|
rs104895260
|
0.00036
|
NM_001142864.4(PIEZO1):c.2590G>A (p.Val864Ile)
|
rs565096713
|
0.00036
|
NM_001355436.2(SPTB):c.4001C>T (p.Ala1334Val)
|
rs113139501
|
0.00036
|
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met)
|
rs145611185
|
0.00036
|
NM_002474.3(MYH11):c.471C>T (p.Ile157=)
|
rs140267000
|
0.00036
|
NM_003126.4(SPTA1):c.5778C>T (p.Asp1926=)
|
rs146520285
|
0.00036
|
NM_004415.4(DSP):c.6319G>C (p.Val2107Leu)
|
rs144263721
|
0.00036
|
NM_004444.5(EPHB4):c.1384G>A (p.Gly462Arg)
|
rs146674844
|
0.00036
|
NM_005026.5(PIK3CD):c.2094C>T (p.Phe698=)
|
rs370548772
|
0.00036
|
NM_005359.6(SMAD4):c.1448-33T>A
|
rs368121123
|
0.00036
|
NM_014236.4(GNPAT):c.1095T>C (p.Phe365=)
|
rs139272614
|
0.00036
|
NM_014629.4(ARHGEF10):c.2909C>T (p.Thr970Met)
|
rs35925274
|
0.00036
|
NM_015046.7(SETX):c.5283A>G (p.Gln1761=)
|
rs139063885
|
0.00036
|
NM_018719.5(CDCA7L):c.*1333C>T
|
rs114694338
|
0.00036
|
NM_024334.3(TMEM43):c.777C>T (p.His259=)
|
rs143958148
|
0.00036
|
NM_030973.4(MED25):c.1231-8C>T
|
rs200594031
|
0.00036
|
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)
|
rs56009889
|
0.00035
|
NM_000243.3(MEFV):c.1260+10C>T
|
rs104895137
|
0.00035
|
NM_000435.3(NOTCH3):c.5200-4C>A
|
rs375036447
|
0.00035
|
NM_001009944.3(PKD1):c.4810G>A (p.Val1604Met)
|
rs191685707
|
0.00035
|
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=)
|
rs150237416
|
0.00035
|
NM_001999.4(FBN2):c.5031C>T (p.Cys1677=)
|
rs147452231
|
0.00035
|
NM_002246.3(KCNK3):c.366C>T (p.Leu122=)
|
rs61736657
|
0.00035
|
NM_002972.4(SBF1):c.5022C>T (p.Asp1674=)
|
rs570393243
|
0.00035
|
NM_017617.5(NOTCH1):c.6636C>T (p.Asp2212=)
|
rs370606059
|
0.00035
|
NM_020822.3(KCNT1):c.522G>A (p.Met174Ile)
|
rs147551342
|
0.00035
|
NM_181882.3(PRX):c.3708G>A (p.Ala1236=)
|
rs202119177
|
0.00035
|
NM_000018.4(ACADVL):c.68G>A (p.Arg23Gln)
|
rs34153370
|
0.00034
|
NM_000020.3(ACVRL1):c.666C>T (p.His222=)
|
rs377194545
|
0.00034
|
NM_000037.4(ANK1):c.5395-1057C>T
|
rs372282334
|
0.00034
|
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)
|
rs139552233
|
0.00034
|
NM_000152.5(GAA):c.1754+11C>T
|
rs371644603
|
0.00034
|
NM_000298.6(PKLR):c.111G>T (p.Gly37=)
|
rs141341788
|
0.00034
|
NM_000335.5(SCN5A):c.5709G>A (p.Ser1903=)
|
rs376826051
|
0.00034
|
NM_000431.4(MVK):c.371+13T>C
|
rs201201471
|
0.00034
|
NM_000525.4(KCNJ11):c.27C>T (p.Pro9=)
|
rs374134161
|
0.00034
|
NM_000540.3(RYR1):c.10938-9C>T
|
rs201976186
|
0.00034
|
NM_000642.3(AGL):c.2088C>T (p.Ser696=)
|
rs144491501
|
0.00034
|
NM_001145809.2(MYH14):c.2233-13C>A
|
rs368249273
|
0.00034
|
NM_001355436.2(SPTB):c.1023G>T (p.Leu341=)
|
rs144939390
|
0.00034
|
NM_001355436.2(SPTB):c.26A>C (p.Asn9Thr)
|
rs138437526
|
0.00034
|
NM_003680.4(YARS1):c.1008G>A (p.Leu336=)
|
rs140232925
|
0.00034
|
NM_004444.5(EPHB4):c.1017G>T (p.Leu339=)
|
rs55867842
|
0.00034
|
NM_004984.4(KIF5A):c.471C>T (p.His157=)
|
rs143178113
|
0.00034
|
NM_006446.5(SLCO1B1):c.1331+9A>G
|
rs76647672
|
0.00034
|
NM_016239.4(MYO15A):c.7069G>A (p.Gly2357Ser)
|
rs201540919
|
0.00034
|
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu)
|
rs41272437
|
0.00034
|
NM_022489.4(INF2):c.37G>A (p.Ala13Thr)
|
rs201383094
|
0.00034
|
NM_025132.4(WDR19):c.3249T>C (p.Asp1083=)
|
rs371128500
|
0.00034
|
NM_032043.3(BRIP1):c.380-17T>A
|
rs200050729
|
0.00034
|
NM_053025.4(MYLK):c.5238+22A>T
|
rs139889311
|
0.00034
|
NM_147127.5(EVC2):c.1882G>A (p.Glu628Lys)
|
rs186197620
|
0.00034
|
NM_153717.3(EVC):c.2712C>T (p.Ser904=)
|
rs146829332
|
0.00034
|
NM_182943.3(PLOD2):c.2121+14T>C
|
rs376009508
|
0.00034
|
NM_000037.4(ANK1):c.3668T>C (p.Val1223Ala)
|
rs185516533
|
0.00033
|
NM_000302.4(PLOD1):c.1428G>A (p.Lys476=)
|
rs139869965
|
0.00033
|
NM_001110556.2(FLNA):c.1044C>T (p.Pro348=)
|
rs375821223
|
0.00033
|
NM_001142864.4(PIEZO1):c.2742C>A (p.Ala914=)
|
rs771618589
|
0.00033
|
NM_001267550.2(TTN):c.57770G>A (p.Arg19257Gln)
|
rs202076328
|
0.00033
|
NM_001270508.2(TNFAIP3):c.322A>G (p.Thr108Ala)
|
rs376205580
|
0.00033
|
NM_001457.4(FLNB):c.3981G>A (p.Gln1327=)
|
rs201441533
|
0.00033
|
NM_005751.5(AKAP9):c.9214-6T>C
|
rs377532409
|
0.00033
|
NM_006302.3(MOGS):c.499A>C (p.Arg167=)
|
rs371747622
|
0.00033
|
NM_023110.3(FGFR1):c.1431-5G>A
|
rs201773631
|
0.00033
|
NM_030777.4(SLC2A10):c.1289-6C>T
|
rs199967429
|
0.00033
|
NM_000038.6(APC):c.2232T>G (p.Ser744=)
|
rs145751759
|
0.00032
|
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro)
|
rs28897701
|
0.00032
|
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser)
|
rs145355907
|
0.00032
|
NM_000260.4(MYO7A):c.4281G>A (p.Thr1427=)
|
rs185607254
|
0.00032
|
NM_000346.4(SOX9):c.1503C>T (p.Pro501=)
|
rs139015010
|
0.00032
|
NM_000558.5(HBA1):c.95+41G>T
|
rs545248706
|
0.00032
|
NM_001110556.2(FLNA):c.1716C>T (p.Thr572=)
|
rs201550267
|
0.00032
|
NM_001244008.2(KIF1A):c.1437C>T (p.Ala479=)
|
rs375180690
|
0.00032
|
NM_001270508.2(TNFAIP3):c.295+8T>C
|
rs370813134
|
0.00032
|
NM_001457.4(FLNB):c.4061+4G>A
|
rs370061963
|
0.00032
|
NM_001999.4(FBN2):c.339G>A (p.Pro113=)
|
rs144540627
|
0.00032
|
NM_002769.5(PRSS1):c.417C>T (p.Cys139=)
|
rs141847266
|
0.00032
|
NM_003036.4(SKI):c.948G>A (p.Lys316=)
|
rs368128582
|
0.00032
|
NM_007272.3(CTRC):c.110G>A (p.Arg37Gln)
|
rs145868278
|
0.00032
|
NM_020778.5(ALPK3):c.2205A>G (p.Pro735=)
|
rs116418403
|
0.00032
|
NM_000038.6(APC):c.4905G>A (p.Gly1635=)
|
rs137988845
|
0.00031
|
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu)
|
rs141010008
|
0.00031
|
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val)
|
rs79538375
|
0.00031
|
NM_000342.4(SLC4A1):c.486-18C>T
|
rs201023917
|
0.00031
|
NM_000393.5(COL5A2):c.2230-16T>A
|
rs375334470
|
0.00031
|
NM_000393.5(COL5A2):c.852G>A (p.Pro284=)
|
rs150092345
|
0.00031
|
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr)
|
rs374524755
|
0.00031
|
NM_001035.3(RYR2):c.3067-16_3067-15del
|
rs727504453
|
0.00031
|
NM_001035.3(RYR2):c.774-14G>T
|
rs370114411
|
0.00031
|
NM_001110556.2(FLNA):c.1691+7C>A
|
rs199565118
|
0.00031
|
NM_001267550.2(TTN):c.63273T>C (p.Asp21091=)
|
rs374168580
|
0.00031
|
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=)
|
rs139953862
|
0.00031
|
NM_001365951.3(KIF1B):c.2604C>T (p.Asp868=)
|
rs145846362
|
0.00031
|
NM_001844.5(COL2A1):c.3327+3G>A
|
rs192229438
|
0.00031
|
NM_002474.3(MYH11):c.5450C>T (p.Ala1817Val)
|
rs142654744
|
0.00031
|
NM_004239.4(TRIP11):c.5124C>T (p.Asn1708=)
|
rs143872244
|
0.00031
|
NM_015141.4(GPD1L):c.813G>T (p.Arg271=)
|
rs35464343
|
0.00031
|
NM_016204.4(GDF2):c.776A>G (p.Asn259Ser)
|
rs140271276
|
0.00031
|
NM_017617.5(NOTCH1):c.186G>C (p.Pro62=)
|
rs374320445
|
0.00031
|
NM_017636.4(TRPM4):c.1242T>C (p.Phe414=)
|
rs200633475
|
0.00031
|
NM_024577.4(SH3TC2):c.1443C>T (p.Asp481=)
|
rs146666910
|
0.00031
|
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp)
|
rs145278250
|
0.00031
|
NM_000023.4(SGCA):c.189C>T (p.His63=)
|
rs373770886
|
0.00030
|
NM_000093.5(COL5A1):c.3906+10C>T
|
rs183881247
|
0.00030
|
NM_000558.3(HBA1):c.154G>A (p.Gly52Ser)
|
rs33960522
|
0.00030
|
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=)
|
rs200787122
|
0.00030
|
NM_001852.4(COL9A2):c.1824A>G (p.Glu608=)
|
rs138949427
|
0.00030
|
NM_002691.4(POLD1):c.714G>A (p.Thr238=)
|
rs149096523
|
0.00030
|
NM_015340.4(LARS2):c.1622+8G>A
|
rs202009605
|
0.00030
|
NM_203486.3(DLL3):c.1386G>T (p.Ala462=)
|
rs561167838
|
0.00030
|
NM_000018.4(ACADVL):c.1678+15C>T
|
rs371402802
|
0.00029
|
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His)
|
rs201666889
|
0.00029
|
NM_000155.4(GALT):c.498T>C (p.Pro166=)
|
rs193922249
|
0.00029
|
NM_000238.4(KCNH2):c.2454G>A (p.Ser818=)
|
rs72549418
|
0.00029
|
NM_000302.4(PLOD1):c.1471-9C>G
|
rs376476977
|
0.00029
|
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg)
|
rs150260969
|
0.00029
|
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=)
|
rs1800121
|
0.00029
|
NM_000518.5(HBB):c.324C>T (p.Gly108=)
|
rs193922562
|
0.00029
|
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=)
|
rs116392938
|
0.00029
|
NM_001009944.3(PKD1):c.4657G>A (p.Val1553Ile)
|
rs200049385
|
0.00029
|
NM_001018005.2(TPM1):c.375-5T>C
|
rs377061868
|
0.00029
|
NM_001110556.2(FLNA):c.5193G>A (p.Val1731=)
|
rs201458268
|
0.00029
|
NM_001243133.2(NLRP3):c.1401C>T (p.Leu467=)
|
rs141637807
|
0.00029
|
NM_001267550.2(TTN):c.49944G>A (p.Lys16648=)
|
rs190021597
|
0.00029
|
NM_001267550.2(TTN):c.52008C>G (p.Val17336=)
|
rs144507270
|
0.00029
|
NM_001384474.1(LOXHD1):c.5400-3C>T
|
rs528236655
|
0.00029
|
NM_001395413.1(POR):c.1512C>T (p.Gly504=)
|
rs370823127
|
0.00029
|
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly)
|
rs199665922
|
0.00029
|
NM_002529.4(NTRK1):c.1068C>T (p.Asn356=)
|
rs145823996
|
0.00029
|
NM_002755.4(MAP2K1):c.848C>T (p.Ala283Val)
|
rs144080051
|
0.00029
|
NM_003659.4(AGPS):c.65C>G (p.Ala22Gly)
|
rs767584572
|
0.00029
|
NM_004082.5(DCTN1):c.2805C>G (p.Ile935Met)
|
rs145130328
|
0.00029
|
NM_004304.5(ALK):c.3102G>A (p.Ser1034=)
|
rs138771319
|
0.00029
|
NM_006031.6(PCNT):c.4222C>T (p.Arg1408Trp)
|
rs202161810
|
0.00029
|
NM_006031.6(PCNT):c.9967+18C>T
|
rs369414311
|
0.00029
|
NM_007078.3(LDB3):c.1035C>T (p.Ile345=)
|
rs121908336
|
0.00029
|
NM_020297.4(ABCC9):c.1557G>A (p.Glu519=)
|
rs143346402
|
0.00029
|
NM_020297.4(ABCC9):c.2262T>C (p.Tyr754=)
|
rs145561881
|
0.00029
|
NM_020433.5(JPH2):c.648G>A (p.Lys216=)
|
rs796219248
|
0.00029
|
NM_021625.5(TRPV4):c.1464C>T (p.Thr488=)
|
rs146841400
|
0.00029
|
NM_052854.4(CREB3L1):c.1259-13A>G
|
rs371036131
|
0.00029
|
NM_203486.3(DLL3):c.747G>A (p.Thr249=)
|
rs146906924
|
0.00029
|
NM_000038.6(APC):c.2593C>T (p.Pro865Ser)
|
rs192620988
|
0.00028
|
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys)
|
rs201830995
|
0.00028
|
NM_000435.3(NOTCH3):c.3523C>T (p.Arg1175Trp)
|
rs200504060
|
0.00028
|
NM_001031834.1(RAB40AL):c.660C>G (p.Ser220Arg)
|
rs148863690
|
0.00028
|
NM_001035.3(RYR2):c.10231-5C>T
|
rs186326951
|
0.00028
|
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu)
|
rs185962498
|
0.00028
|
NM_001267550.2(TTN):c.21993T>C (p.Pro7331=)
|
rs373223049
|
0.00028
|
NM_001386125.1(OBSCN):c.10654G>A (p.Asp3552Asn)
|
rs201332233
|
0.00028
|
NM_004082.5(DCTN1):c.558G>A (p.Pro186=)
|
rs201078804
|
0.00028
|
NM_022489.4(INF2):c.609C>T (p.Ala203=)
|
rs140017506
|
0.00028
|
NM_053025.4(MYLK):c.5114+8G>A
|
rs202229368
|
0.00028
|
NC_000016.10:g.177596T>G
|
rs930009344
|
0.00027
|
NM_000518.5(HBB):c.316-19T>A
|
rs191535077
|
0.00027
|
NM_000548.5(TSC2):c.3744C>T (p.Ala1248=)
|
rs45517307
|
0.00027
|
NM_001033855.3(DCLRE1C):c.973-1801T>A
|
rs557886549
|
0.00027
|
NM_001105206.3(LAMA4):c.1158G>A (p.Glu386=)
|
rs147894075
|
0.00027
|
NM_001370466.1(NOD2):c.760C>T (p.Leu254Phe)
|
rs756943416
|
0.00027
|
NM_001376.5(DYNC1H1):c.12513+17C>T
|
rs368189529
|
0.00027
|
NM_002907.4(RECQL):c.502-18A>G
|
rs371398325
|
0.00027
|
NM_003978.5(PSTPIP1):c.882G>A (p.Pro294=)
|
rs200796501
|
0.00027
|
NM_004360.5(CDH1):c.303C>T (p.Tyr101=)
|
rs150789339
|
0.00027
|
NM_006892.4(DNMT3B):c.42C>T (p.Ala14=)
|
rs730823
|
0.00027
|
NM_023110.3(FGFR1):c.359-4A>G
|
rs185233212
|
0.00027
|
NM_000059.4(BRCA2):c.2412A>G (p.Glu804=)
|
rs587780866
|
0.00026
|
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=)
|
rs80359788
|
0.00026
|
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His)
|
rs41293521
|
0.00026
|
NM_000393.5(COL5A2):c.322+8T>C
|
rs372227642
|
0.00026
|
NM_000527.5(LDLR):c.1056C>T (p.Cys352=)
|
rs13306515
|
0.00026
|
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp)
|
rs45517328
|
0.00026
|
NM_001009944.3(PKD1):c.10397C>T (p.Ser3466Leu)
|
rs147464577
|
0.00026
|
NM_001042492.3(NF1):c.7554C>G (p.Ala2518=)
|
rs141897690
|
0.00026
|
NM_001065.4(TNFRSF1A):c.988G>A (p.Ala330Thr)
|
rs200029309
|
0.00026
|
NM_001142864.4(PIEZO1):c.5988A>G (p.Ser1996=)
|
rs370710857
|
0.00026
|
NM_001204.7(BMPR2):c.674G>A (p.Arg225His)
|
rs148682262
|
0.00026
|
NM_001235.5(SERPINH1):c.1119C>T (p.Arg373=)
|
rs375913094
|
0.00026
|
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=)
|
rs184307461
|
0.00026
|
NM_001267550.2(TTN):c.25809G>A (p.Ser8603=)
|
rs369099681
|
0.00026
|
NM_001267550.2(TTN):c.34845C>T (p.Pro11615=)
|
rs368781863
|
0.00026
|
NM_001377.3(DYNC2H1):c.4053T>C (p.Tyr1351=)
|
rs372246714
|
0.00026
|
NM_001999.4(FBN2):c.2249-19A>G
|
rs193091226
|
0.00026
|
NM_002474.3(MYH11):c.914A>G (p.Asn305Ser)
|
rs185661462
|
0.00026
|
NM_004006.3(DMD):c.1252A>T (p.Thr418Ser)
|
rs201341211
|
0.00026
|
NM_004974.4(KCNA2):c.372G>A (p.Glu124=)
|
rs200499541
|
0.00026
|
NM_005026.5(PIK3CD):c.3024G>A (p.Glu1008=)
|
rs146664456
|
0.00026
|
NM_005529.7(HSPG2):c.3303-7C>T
|
rs373330301
|
0.00026
|
NM_007078.3(LDB3):c.2092G>A (p.Ala698Thr)
|
rs45577134
|
0.00026
|
NM_053025.4(MYLK):c.1609G>A (p.Val537Ile)
|
rs199988497
|
0.00026
|
NM_053025.4(MYLK):c.429A>G (p.Arg143=)
|
rs149940930
|
0.00026
|
NM_183050.4(BCKDHB):c.744G>A (p.Ala248=)
|
rs147719822
|
0.00026
|
NM_000037.4(ANK1):c.447G>T (p.Ala149=)
|
rs140550365
|
0.00025
|
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg)
|
rs80358674
|
0.00025
|
NM_000059.4(BRCA2):c.9876G>A (p.Pro3292=)
|
rs369047997
|
0.00025
|
NM_000169.3(GLA):c.-44C>T
|
rs781906252
|
0.00025
|
NM_000431.4(MVK):c.876C>T (p.Leu292=)
|
rs370301290
|
0.00025
|
NM_000558.5(HBA1):c.301-17C>A
|
rs571422135
|
0.00025
|
NM_001142864.4(PIEZO1):c.5627G>A (p.Arg1876Lys)
|
rs201967733
|
0.00025
|
NM_001375808.2(LPIN2):c.2610C>T (p.Ser870=)
|
rs145412418
|
0.00025
|
NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg)
|
rs373264436
|
0.00025
|
NM_003978.5(PSTPIP1):c.1151A>G (p.Asp384Gly)
|
rs200771233
|
0.00025
|
NM_004655.4(AXIN2):c.1059+8C>T
|
rs367595502
|
0.00025
|
NM_004985.5(KRAS):c.24A>G (p.Val8=)
|
rs147406419
|
0.00025
|
NM_005032.7(PLS3):c.892-254T>C
|
rs782587498
|
0.00025
|
NM_005609.4(PYGM):c.612C>T (p.Tyr204=)
|
rs200467937
|
0.00025
|
NM_005902.4(SMAD3):c.207-10G>A
|
rs201912204
|
0.00025
|
NM_018706.7(DHTKD1):c.33G>A (p.Arg11=)
|
rs199768968
|
0.00025
|
NM_000089.4(COL1A2):c.892-13C>G
|
rs200532328
|
0.00024
|
NM_000093.5(COL5A1):c.4393-19C>T
|
rs186732287
|
0.00024
|
NM_000188.3(HK1):c.876-16G>T
|
rs373066820
|
0.00024
|
NM_000193.4(SHH):c.756C>T (p.Phe252=)
|
rs113275997
|
0.00024
|
NM_000399.5(EGR2):c.174C>T (p.Gly58=)
|
rs143793213
|
0.00024
|
NM_000518.5(HBB):c.316-45G>C
|
rs140033163
|
0.00024
|
NM_001005373.4(LRSAM1):c.2139C>T (p.Ile713=)
|
rs373990000
|
0.00024
|
NM_001009944.3(PKD1):c.11156+36C>T
|
rs369188265
|
0.00024
|
NM_001042475.3(CEP85L):c.1020+6713T>C
|
rs116458064
|
0.00024
|
NM_001098512.3(PRKG1):c.13G>C (p.Glu5Gln)
|
rs200844105
|
0.00024
|
NM_001145809.2(MYH14):c.3871G>T (p.Val1291Leu)
|
rs202242879
|
0.00024
|
NM_001184.4(ATR):c.4267-12A>G
|
rs374421247
|
0.00024
|
NM_001199397.3(NEK1):c.1617G>A (p.Gln539=)
|
rs146569517
|
0.00024
|
NM_001267550.2(TTN):c.90624T>C (p.Asn30208=)
|
rs370479059
|
0.00024
|
NM_001370466.1(NOD2):c.-8-2185C>T
|
rs144993105
|
0.00024
|
NM_001370466.1(NOD2):c.989A>C (p.Asp330Ala)
|
rs104895469
|
0.00024
|
NM_001377.3(DYNC2H1):c.2145A>G (p.Gln715=)
|
rs373969189
|
0.00024
|
NM_001395413.1(POR):c.1806+8G>A
|
rs72557952
|
0.00024
|
NM_001457.4(FLNB):c.3594G>A (p.Thr1198=)
|
rs143566075
|
0.00024
|
NM_001854.4(COL11A1):c.898-15T>C
|
rs200242905
|
0.00024
|
NM_001943.5(DSG2):c.2913T>G (p.Ala971=)
|
rs200793530
|
0.00024
|
NM_002769.5(PRSS1):c.410C>T (p.Thr137Met)
|
rs117497341
|
0.00024
|
NM_002972.4(SBF1):c.2697C>A (p.Gly899=)
|
rs374888082
|
0.00024
|
NM_005422.4(TECTA):c.1461A>G (p.Gly487=)
|
rs202127508
|
0.00024
|
NM_005529.7(HSPG2):c.9060G>A (p.Arg3020=)
|
rs372508479
|
0.00024
|
NM_006446.5(SLCO1B1):c.210C>T (p.Asp70=)
|
rs148697674
|
0.00024
|
NM_016204.4(GDF2):c.221G>A (p.Gly74Glu)
|
rs151296940
|
0.00024
|
NM_022787.4(NMNAT1):c.764G>A (p.Ser255Asn)
|
rs138626416
|
0.00024
|
NM_133459.4(CCBE1):c.966G>A (p.Ala322=)
|
rs144169027
|
0.00024
|
NM_138477.4(CDAN1):c.2869-5C>T
|
rs370304543
|
0.00024
|
NM_178335.3(CCDC50):c.1144G>A (p.Ala382Thr)
|
rs143628723
|
0.00024
|
NM_206933.4(USH2A):c.4335T>C (p.Thr1445=)
|
rs397518016
|
0.00024
|
NM_000037.4(ANK1):c.3298G>A (p.Val1100Ile)
|
rs147741842
|
0.00023
|
NM_000175.5(GPI):c.1497C>T (p.Phe499=)
|
rs138799755
|
0.00023
|
NM_000302.4(PLOD1):c.1471-8C>T
|
rs201661871
|
0.00023
|
NM_000342.4(SLC4A1):c.798T>C (p.Phe266=)
|
rs193011645
|
0.00023
|
NM_000431.4(MVK):c.1128C>T (p.Gly376=)
|
rs147662789
|
0.00023
|
NM_000459.5(TEK):c.365-19G>A
|
rs371486685
|
0.00023
|
NM_001110556.2(FLNA):c.237G>C (p.Ala79=)
|
rs200626788
|
0.00023
|
NM_001130823.3(DNMT1):c.2693C>T (p.Thr898Ile)
|
rs201213597
|
0.00023
|
NM_001130823.3(DNMT1):c.3807-14C>T
|
rs371376513
|
0.00023
|
NM_001267550.2(TTN):c.98118T>C (p.Leu32706=)
|
rs72648269
|
0.00023
|
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=)
|
rs200014315
|
0.00023
|
NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=)
|
rs138571942
|
0.00023
|
NM_002878.4(RAD51D):c.263+1605G>A
|
rs147933658
|
0.00023
|
NM_004006.3(DMD):c.696C>G (p.Ile232Met)
|
rs145668843
|
0.00023
|
NM_005529.7(HSPG2):c.4971C>T (p.Tyr1657=)
|
rs138459752
|
0.00023
|
NM_006231.4(POLE):c.3379-12C>T
|
rs187618435
|
0.00023
|
NM_144573.4(NEXN):c.1029G>A (p.Ala343=)
|
rs374260457
|
0.00023
|
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile)
|
rs28897755
|
0.00022
|
NM_000138.5(FBN1):c.6872-956T>C
|
rs766567890
|
0.00022
|
NM_000256.3(MYBPC3):c.3228C>T (p.Asp1076=)
|
rs369999866
|
0.00022
|
NM_000435.3(NOTCH3):c.340+14A>G
|
rs202136001
|
0.00022
|
NM_000518.5(HBB):c.246C>A (p.Leu82=)
|
rs145669504
|
0.00022
|
NM_000518.5(HBB):c.294C>T (p.His98=)
|
rs34515413
|
0.00022
|
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys)
|
rs139438201
|
0.00022
|
NM_001009944.3(PKD1):c.3679G>T (p.Ala1227Ser)
|
rs150710956
|
0.00022
|
NM_001109809.5(ZFP57):c.1118C>G (p.Ser373Cys)
|
rs193232883
|
0.00022
|
NM_001114753.3(ENG):c.-120G>T
|
rs565259710
|
0.00022
|
NM_001142864.4(PIEZO1):c.2907C>T (p.Ser969=)
|
rs754595848
|
0.00022
|
NM_001148.6(ANK2):c.10531C>T (p.Leu3511=)
|
rs148462839
|
0.00022
|
NM_001267550.2(TTN):c.107377+14C>T
|
rs367908657
|
0.00022
|
NM_001999.4(FBN2):c.7013-7T>A
|
rs191729449
|
0.00022
|
NM_003072.5(SMARCA4):c.3558G>A (p.Ala1186=)
|
rs140322802
|
0.00022
|
NM_004006.3(DMD):c.3951G>A (p.Glu1317=)
|
rs199643655
|
0.00022
|
NM_004360.5(CDH1):c.33G>C (p.Leu11=)
|
rs730881654
|
0.00022
|
NM_006231.4(POLE):c.672C>T (p.Tyr224=)
|
rs376923206
|
0.00022
|
NM_012452.3(TNFRSF13B):c.41G>A (p.Arg14His)
|
rs200309474
|
0.00022
|
NM_053025.4(MYLK):c.5121C>T (p.Arg1707=)
|
rs144436556
|
0.00022
|
NM_000020.3(ACVRL1):c.1084C>T (p.Leu362=)
|
rs375679140
|
0.00021
|
NM_000059.4(BRCA2):c.682-32A>G
|
rs376686897
|
0.00021
|
NM_000089.4(COL1A2):c.1329G>A (p.Glu443=)
|
rs146206917
|
0.00021
|
NM_000089.4(COL1A2):c.981C>T (p.Arg327=)
|
rs141762645
|
0.00021
|
NM_000093.5(COL5A1):c.1440C>T (p.Pro480=)
|
rs150940930
|
0.00021
|
NM_000257.4(MYH7):c.5656-9C>T
|
rs781212482
|
0.00021
|
NM_000289.6(PFKM):c.459C>T (p.Ser153=)
|
rs145519821
|
0.00021
|
NM_000557.5(GDF5):c.979C>G (p.Leu327Val)
|
rs181772082
|
0.00021
|
NM_001010892.3(RSPH4A):c.930C>T (p.Asn310=)
|
rs180881714
|
0.00021
|
NM_001035.3(RYR2):c.10143-19T>C
|
rs373127797
|
0.00021
|
NM_001040716.2(PC):c.1446C>T (p.Asp482=)
|
rs145891535
|
0.00021
|
NM_001042492.3(NF1):c.5269-9A>G
|
rs544515671
|
0.00021
|
NM_001242896.3(DEPDC5):c.2672G>C (p.Ser891Thr)
|
rs185576553
|
0.00021
|
NM_001375808.2(LPIN2):c.2445T>C (p.Asp815=)
|
rs140249737
|
0.00021
|
NM_001377.3(DYNC2H1):c.4719A>G (p.Gln1573=)
|
rs201016942
|
0.00021
|
NM_001379610.1(SPINK1):c.195-21T>A
|
rs377350168
|
0.00021
|
NM_001457.4(FLNB):c.3898+19G>A
|
rs780062399
|
0.00021
|
NM_001457.4(FLNB):c.5407A>T (p.Met1803Leu)
|
rs200677473
|
0.00021
|
NM_002047.4(GARS1):c.408A>G (p.Gln136=)
|
rs200279483
|
0.00021
|
NM_002972.4(SBF1):c.2967+8G>A
|
rs374708421
|
0.00021
|
NM_003467.3(CXCR4):c.294C>T (p.Ala98=)
|
rs142289207
|
0.00021
|
NM_003640.5(ELP1):c.1878C>T (p.Asp626=)
|
rs141596257
|
0.00021
|
NM_006005.3(WFS1):c.1309G>A (p.Gly437Ser)
|
rs147974629
|
0.00021
|
NM_012073.5(CCT5):c.1425C>T (p.Thr475=)
|
rs370529963
|
0.00021
|
NM_015512.5(DNAH1):c.7794C>T (p.Leu2598=)
|
rs373044616
|
0.00021
|
NM_016204.4(GDF2):c.1290G>A (p.Ter430=)
|
rs139568056
|
0.00021
|
NM_080680.3(COL11A2):c.1560C>A (p.Gly520=)
|
rs370680294
|
0.00021
|
NM_138477.4(CDAN1):c.2016G>A (p.Pro672=)
|
rs371799686
|
0.00021
|
NM_144687.4(NLRP12):c.629C>T (p.Pro210Leu)
|
rs377594629
|
0.00021
|
NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly)
|
rs111033396
|
0.00021
|
NM_201253.3(CRB1):c.1986A>G (p.Ser662=)
|
rs115400822
|
0.00021
|
NM_000038.6(APC):c.3006C>T (p.Ala1002=)
|
rs72541810
|
0.00020
|
NM_000257.4(MYH7):c.5283+19C>T
|
rs45582836
|
0.00020
|
NM_000455.5(STK11):c.1296G>A (p.Gln432=)
|
rs587781179
|
0.00020
|
NM_001002010.5(NT5C3A):c.139-9025G>T
|
rs149839373
|
0.00020
|
NM_001142446.2(ANK1):c.127-39556C>T
|
rs907195146
|
0.00020
|
NM_001148.6(ANK2):c.3963T>C (p.Ile1321=)
|
rs72901936
|
0.00020
|
NM_001267550.2(TTN):c.14697C>T (p.Ser4899=)
|
rs372740215
|
0.00020
|
NM_001365088.1(SLC12A6):c.966C>T (p.Gly322=)
|
rs142496698
|
0.00020
|
NM_001376.5(DYNC1H1):c.13808G>T (p.Ser4603Ile)
|
rs200731839
|
0.00020
|
NM_002769.5(PRSS1):c.621T>C (p.Asn207=)
|
rs146995038
|
0.00020
|
NM_003001.5(SDHC):c.120G>A (p.Arg40=)
|
rs36097930
|
0.00020
|
NM_003482.4(KMT2D):c.8382C>A (p.Gly2794=)
|
rs368967997
|
0.00020
|
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp)
|
rs149322279
|
0.00020
|
NM_004082.5(DCTN1):c.837G>A (p.Ala279=)
|
rs72466489
|
0.00020
|
NM_004171.4(SLC1A2):c.92G>A (p.Arg31Gln)
|
rs199599866
|
0.00020
|
NM_006017.3(PROM1):c.456C>G (p.Pro152=)
|
rs377209685
|
0.00020
|
NM_006939.4(SOS2):c.2712A>G (p.Glu904=)
|
rs143332839
|
0.00020
|
NM_144997.7(FLCN):c.246C>T (p.Cys82=)
|
rs150712346
|
0.00020
|
NM_000037.4(ANK1):c.4099G>A (p.Ala1367Thr)
|
rs148620640
|
0.00019
|
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys)
|
rs55794205
|
0.00019
|
NM_000059.4(BRCA2):c.6921A>G (p.Ser2307=)
|
rs181183366
|
0.00019
|
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met)
|
rs59004709
|
0.00019
|
NM_000088.4(COL1A1):c.1269C>T (p.Pro423=)
|
rs149301001
|
0.00019
|
NM_000095.3(COMP):c.868-4C>T
|
rs529806631
|
0.00019
|
NM_000132.4(F8):c.1064G>A (p.Arg355Gln)
|
rs146581224
|
0.00019
|
NM_000132.4(F8):c.6276G>A (p.Val2092=)
|
rs199522131
|
0.00019
|
NM_000138.5(FBN1):c.6705A>C (p.Gly2235=)
|
rs2229326
|
0.00019
|
NM_000256.3(MYBPC3):c.3285G>A (p.Thr1095=)
|
rs367927327
|
0.00019
|
NM_000260.4(MYO7A):c.3858G>A (p.Ala1286=)
|
rs372623270
|
0.00019
|
NM_000314.8(PTEN):c.-313A>T
|
rs1014763428
|
0.00019
|
NM_000520.6(HEXA):c.1421+14G>C
|
rs201497629
|
0.00019
|
NM_000717.5(CA4):c.258C>T (p.Asn86=)
|
rs185476073
|
0.00019
|
NM_001009944.3(PKD1):c.7430G>A (p.Arg2477His)
|
rs556618384
|
0.00019
|
NM_001035.3(RYR2):c.1006-12C>T
|
rs367998175
|
0.00019
|
NM_001042492.3(NF1):c.60+35G>A
|
rs749185009
|
0.00019
|
NM_001128840.3(CACNA1D):c.3297G>A (p.Thr1099=)
|
rs151094357
|
0.00019
|
NM_001130823.3(DNMT1):c.3117-9C>T
|
rs199546819
|
0.00019
|
NM_001142864.4(PIEZO1):c.284-4G>A
|
rs543289166
|
0.00019
|
NM_001267550.2(TTN):c.39127+10A>C
|
rs397517554
|
0.00019
|
NM_001267550.2(TTN):c.97578C>T (p.Asp32526=)
|
rs142907833
|
0.00019
|
NM_001355436.2(SPTB):c.6369T>G (p.Pro2123=)
|
rs149033754
|
0.00019
|
NM_001358263.1(HK1):c.75+5186G>A
|
rs372970369
|
0.00019
|
NM_001360016.2(G6PD):c.864+17A>T
|
rs377041776
|
0.00019
|
NM_001365999.1(SZT2):c.8031G>A (p.Ala2677=)
|
rs138303356
|
0.00019
|
NM_001386125.1(OBSCN):c.20021G>A (p.Ser6674Asn)
|
rs376194851
|
0.00019
|
NM_002103.5(GYS1):c.207G>A (p.Thr69=)
|
rs540438011
|
0.00019
|
NM_002180.3(IGHMBP2):c.1914G>A (p.Thr638=)
|
rs139065967
|
0.00019
|
NM_002661.5(PLCG2):c.171C>T (p.Thr57=)
|
rs374354863
|
0.00019
|
NM_002661.5(PLCG2):c.2211C>T (p.Pro737=)
|
rs368933697
|
0.00019
|
NM_004304.5(ALK):c.487G>T (p.Val163Leu)
|
rs55697431
|
0.00019
|
NM_005529.7(HSPG2):c.6630G>A (p.Pro2210=)
|
rs149659526
|
0.00019
|
NM_006005.3(WFS1):c.1377G>A (p.Leu459=)
|
rs143672793
|
0.00019
|
NM_006182.4(DDR2):c.2559C>T (p.Gly853=)
|
rs142174119
|
0.00019
|
NM_006231.4(POLE):c.2781C>T (p.Asn927=)
|
rs775486303
|
0.00019
|
NM_006231.4(POLE):c.6532-19G>T
|
rs201114228
|
0.00019
|
NM_006790.3(MYOT):c.323A>C (p.Asn108Thr)
|
rs142416150
|
0.00019
|
NM_007294.4(BRCA1):c.1789G>A (p.Glu597Lys)
|
rs55650082
|
0.00019
|
NM_012418.4(FSCN2):c.718G>A (p.Ala240Thr)
|
rs370156011
|
0.00019
|
NM_014920.5(CILK1):c.555G>A (p.Ala185=)
|
rs138668959
|
0.00019
|
NM_017654.4(SAMD9):c.1059G>A (p.Thr353=)
|
rs145911444
|
0.00019
|
NM_018112.3(TMEM38B):c.750G>A (p.Pro250=)
|
rs199855840
|
0.00019
|
NM_032415.7(CARD11):c.2499C>T (p.Pro833=)
|
rs150171618
|
0.00019
|
NM_144687.4(NLRP12):c.1182C>G (p.Asn394Lys)
|
rs201241894
|
0.00019
|
NM_000038.6(APC):c.3374T>C (p.Val1125Ala)
|
rs377278397
|
0.00018
|
NM_000088.4(COL1A1):c.1812T>C (p.Pro604=)
|
rs151328660
|
0.00018
|
NM_000088.4(COL1A1):c.2236-9T>C
|
rs375248255
|
0.00018
|
NM_000090.4(COL3A1):c.2805T>C (p.Pro935=)
|
rs111567071
|
0.00018
|
NM_000093.5(COL5A1):c.2799+11G>A
|
rs377322092
|
0.00018
|
NM_000117.3(EMD):c.272A>G (p.Asn91Ser)
|
rs137977232
|
0.00018
|
NM_000188.3(HK1):c.2610-12C>T
|
rs143981530
|
0.00018
|
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr)
|
rs63749910
|
0.00018
|
NM_000302.4(PLOD1):c.1140C>T (p.Ser380=)
|
rs200131516
|
0.00018
|
NM_000546.6(TP53):c.1014C>T (p.Phe338=)
|
rs150293825
|
0.00018
|
NM_000558.5(HBA1):c.300+47C>A
|
rs748369967
|
0.00018
|
NM_001009944.3(PKD1):c.10619G>C (p.Gly3540Ala)
|
rs201409107
|
0.00018
|
NM_001065.4(TNFRSF1A):c.1206C>T (p.Ser402=)
|
rs148334665
|
0.00018
|
NM_001110556.2(FLNA):c.2845G>A (p.Val949Ile)
|
rs201656372
|
0.00018
|
NM_001110556.2(FLNA):c.3995A>G (p.Asp1332Gly)
|
rs200615848
|
0.00018
|
NM_001114753.3(ENG):c.1134+9A>T
|
rs200780733
|
0.00018
|
NM_001177316.2(SLC34A3):c.411G>A (p.Thr137=)
|
rs148026048
|
0.00018
|
NM_001244008.2(KIF1A):c.3202+8G>A
|
rs371620074
|
0.00018
|
NM_001365088.1(SLC12A6):c.3043-18T>C
|
rs181683351
|
0.00018
|
NM_001999.4(FBN2):c.6253C>G (p.Pro2085Ala)
|
rs34845843
|
0.00018
|
NM_002103.5(GYS1):c.1512C>T (p.Val504=)
|
rs201028159
|
0.00018
|
NM_002230.4(JUP):c.1377G>T (p.Leu459=)
|
rs147370522
|
0.00018
|
NM_002769.5(PRSS1):c.453C>T (p.Gly151=)
|
rs147765409
|
0.00018
|
NM_003242.6(TGFBR2):c.984C>T (p.His328=)
|
rs193922666
|
0.00018
|
NM_004360.5(CDH1):c.2412C>T (p.Pro804=)
|
rs202075199
|
0.00018
|
NM_004517.4(ILK):c.707A>G (p.Asn236Ser)
|
rs145571020
|
0.00018
|
NM_006031.6(PCNT):c.6819G>A (p.Gly2273=)
|
rs200610141
|
0.00018
|
NM_018063.5(HELLS):c.913A>G (p.Thr305Ala)
|
rs200482346
|
0.00018
|
NM_000059.4(BRCA2):c.10203G>A (p.Thr3401=)
|
rs147854265
|
0.00017
|
NM_000059.4(BRCA2):c.67+17T>C
|
rs767648965
|
0.00017
|
NM_000089.4(COL1A2):c.1583A>G (p.Asn528Ser)
|
rs41317144
|
0.00017
|
NM_000132.4(F8):c.2887G>A (p.Asp963Asn)
|
rs199660138
|
0.00017
|
NM_000138.5(FBN1):c.6342A>C (p.Gly2114=)
|
rs374705586
|
0.00017
|
NM_000342.4(SLC4A1):c.277G>T (p.Ala93Ser)
|
rs145054469
|
0.00017
|
NM_000435.3(NOTCH3):c.3328-8C>A
|
rs200360207
|
0.00017
|
NM_000540.3(RYR1):c.5439G>A (p.Arg1813=)
|
rs147424734
|
0.00017
|
NM_000719.7(CACNA1C):c.1419C>T (p.Ser473=)
|
rs368065584
|
0.00017
|
NM_001114753.3(ENG):c.-188G>A
|
rs961480381
|
0.00017
|
NM_001267550.2(TTN):c.65575+10T>C
|
rs72646864
|
0.00017
|
NM_001375808.2(LPIN2):c.2328-13A>T
|
rs199830303
|
0.00017
|
NM_001972.4(ELANE):c.366+12C>A
|
rs377068029
|
0.00017
|
NM_002972.4(SBF1):c.5595G>A (p.Thr1865=)
|
rs371139013
|
0.00017
|
NM_005529.7(HSPG2):c.11568C>T (p.Gly3856=)
|
rs200221194
|
0.00017
|
NM_053025.4(MYLK):c.3981C>T (p.Val1327=)
|
rs373556266
|
0.00017
|
NM_133379.5(TTN):c.15981G>A (p.Gln5327=)
|
rs186841908
|
0.00017
|
NM_177438.3(DICER1):c.3261G>A (p.Ala1087=)
|
rs369869162
|
0.00017
|
NM_181523.3(PIK3R1):c.1020-19T>C
|
rs373504515
|
0.00017
|
NM_181882.3(PRX):c.3549C>T (p.Tyr1183=)
|
rs367876251
|
0.00017
|
NM_000038.6(APC):c.6669A>G (p.Ser2223=)
|
rs372680843
|
0.00016
|
NM_000268.4(NF2):c.1749G>A (p.Gln583=)
|
rs201911915
|
0.00016
|
NM_000316.3(PTH1R):c.357G>A (p.Pro119=)
|
rs143692596
|
0.00016
|
NM_000352.6(ABCC8):c.3000C>T (p.Cys1000=)
|
rs192863214
|
0.00016
|
NM_000368.5(TSC1):c.1700C>T (p.Ala567Val)
|
rs397514880
|
0.00016
|
NM_000368.5(TSC1):c.1936A>G (p.Met646Val)
|
rs145741748
|
0.00016
|
NM_000520.6(HEXA):c.582G>A (p.Ala194=)
|
rs112614306
|
0.00016
|
NM_000525.4(KCNJ11):c.1017G>T (p.Val339=)
|
rs770408379
|
0.00016
|
NM_000548.5(TSC2):c.4493+17C>T
|
rs45517345
|
0.00016
|
NM_001009944.3(PKD1):c.4809C>T (p.Ser1603=)
|
rs146103326
|
0.00016
|
NM_001035.3(RYR2):c.8592A>G (p.Gly2864=)
|
rs763801208
|
0.00016
|
NM_001142864.4(PIEZO1):c.4891C>T (p.Arg1631Cys)
|
rs566969453
|
0.00016
|
NM_001142864.4(PIEZO1):c.6829C>A (p.Leu2277Met)
|
rs563555492
|
0.00016
|
NM_001148.6(ANK2):c.270G>T (p.Val90=)
|
rs376457094
|
0.00016
|
NM_001244008.2(KIF1A):c.3247G>A (p.Ala1083Thr)
|
rs201793635
|
0.00016
|
NM_001267550.2(TTN):c.87771C>A (p.Gly29257=)
|
rs72648230
|
0.00016
|
NM_001370259.2(MEN1):c.1080C>T (p.Ile360=)
|
rs147331514
|
0.00016
|
NM_001370466.1(NOD2):c.1522C>T (p.Leu508=)
|
rs145190613
|
0.00016
|
NM_001375808.2(LPIN2):c.1793+17C>T
|
rs188429587
|
0.00016
|
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=)
|
rs117846737
|
0.00016
|
NM_001378454.1(ALMS1):c.4149A>G (p.Gln1383=)
|
rs370508895
|
0.00016
|
NM_001386125.1(OBSCN):c.2050T>C (p.Phe684Leu)
|
rs371434948
|
0.00016
|
NM_001876.4(CPT1A):c.1770G>A (p.Glu590=)
|
rs61731905
|
0.00016
|
NM_002230.4(JUP):c.2178C>T (p.Ile726=)
|
rs141295561
|
0.00016
|
NM_002473.6(MYH9):c.3246G>A (p.Glu1082=)
|
rs147961725
|
0.00016
|
NM_002473.6(MYH9):c.4096-16C>A
|
rs144817592
|
0.00016
|
NM_002769.5(PRSS1):c.40+13C>T
|
rs368872847
|
0.00016
|
NM_002890.3(RASA1):c.224G>C (p.Gly75Ala)
|
rs200002693
|
0.00016
|
NM_003036.4(SKI):c.42C>T (p.His14=)
|
rs543603037
|
0.00016
|
NM_003036.4(SKI):c.799C>T (p.Leu267=)
|
rs140178396
|
0.00016
|
NM_003480.4(MFAP5):c.195T>A (p.Ile65=)
|
rs146558268
|
0.00016
|
NM_004004.6(GJB2):c.186C>T (p.Asn62=)
|
rs397516869
|
0.00016
|
NM_004655.4(AXIN2):c.1242G>A (p.Arg414=)
|
rs200325634
|
0.00016
|
NM_004655.4(AXIN2):c.780T>C (p.Ser260=)
|
rs147681058
|
0.00016
|
NM_005633.4(SOS1):c.109A>G (p.Thr37Ala)
|
rs150565592
|
0.00016
|
NM_006031.6(PCNT):c.8401G>C (p.Val2801Leu)
|
rs138868039
|
0.00016
|
NM_006231.4(POLE):c.6597C>T (p.Ile2199=)
|
rs147611144
|
0.00016
|
NM_006767.4(LZTR1):c.2058C>T (p.Ala686=)
|
rs201272562
|
0.00016
|
NM_007272.3(CTRC):c.27G>A (p.Ala9=)
|
rs374821228
|
0.00016
|
NM_007294.4(BRCA1):c.4410A>T (p.Glu1470Asp)
|
rs80357075
|
0.00016
|
NM_007294.4(BRCA1):c.5193+38A>G
|
rs375647048
|
0.00016
|
NM_016938.5(EFEMP2):c.885C>T (p.Ser295=)
|
rs142509316
|
0.00016
|
NM_017617.5(NOTCH1):c.3288G>C (p.Val1096=)
|
rs374944458
|
0.00016
|
NM_017950.4(CCDC40):c.2227G>A (p.Glu743Lys)
|
rs201166295
|
0.00016
|
NM_021625.5(TRPV4):c.1584C>T (p.Asn528=)
|
rs142749412
|
0.00016
|
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp)
|
rs183489969
|
0.00016
|
NM_030962.4(SBF2):c.2319G>A (p.Ala773=)
|
rs201547070
|
0.00016
|
NM_053025.4(MYLK):c.4293G>A (p.Pro1431=)
|
rs370153686
|
0.00016
|
NM_170707.4(LMNA):c.1656C>T (p.Asp552=)
|
rs370219874
|
0.00016
|
NM_000132.4(F8):c.3399A>G (p.Gly1133=)
|
rs200042130
|
0.00015
|
NM_000138.5(FBN1):c.1371C>G (p.Arg457=)
|
rs25436
|
0.00015
|
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=)
|
rs149697299
|
0.00015
|
NM_000243.3(MEFV):c.1518C>T (p.Ile506=)
|
rs104895099
|
0.00015
|
NM_000384.3(APOB):c.5064C>T (p.Gly1688=)
|
rs528083505
|
0.00015
|
NM_000492.4(CFTR):c.360G>A (p.Ala120=)
|
rs1800077
|
0.00015
|
NM_000527.5(LDLR):c.165C>G (p.Gly55=)
|
rs150644181
|
0.00015
|
NM_000548.5(TSC2):c.4809C>T (p.Asp1603=)
|
rs147578602
|
0.00015
|
NM_001005242.3(PKP2):c.195C>T (p.Ala65=)
|
rs397517014
|
0.00015
|
NM_001009944.3(PKD1):c.8100A>G (p.Ala2700=)
|
rs372759889
|
0.00015
|
NM_001009944.3(PKD1):c.8750C>T (p.Ala2917Val)
|
rs550768338
|
0.00015
|
NM_001084.5(PLOD3):c.503-9C>T
|
rs368123704
|
0.00015
|
NM_001110556.2(FLNA):c.1812C>T (p.Asp604=)
|
rs370735674
|
0.00015
|
NM_001134363.3(RBM20):c.3513G>A (p.Thr1171=)
|
rs184312864
|
0.00015
|
NM_001364905.1(LRBA):c.3423C>T (p.Ala1141=)
|
rs141442145
|
0.00015
|
NM_001370259.2(MEN1):c.1508G>A (p.Gly503Asp)
|
rs375804228
|
0.00015
|
NM_001376013.1(EPB41):c.2229C>T (p.Ala743=)
|
rs117306261
|
0.00015
|
NM_003978.5(PSTPIP1):c.355-16C>G
|
rs767272289
|
0.00015
|
NM_006231.4(POLE):c.252C>T (p.Tyr84=)
|
rs148838481
|
0.00015
|
NM_007357.3(COG2):c.1957G>A (p.Val653Ile)
|
rs747920088
|
0.00015
|
NM_053025.4(MYLK):c.2023G>A (p.Gly675Arg)
|
rs147008323
|
0.00015
|
NM_144997.7(FLCN):c.1332C>T (p.Ala444=)
|
rs141283741
|
0.00015
|
NM_177438.3(DICER1):c.3792G>A (p.Thr1264=)
|
rs778862635
|
0.00015
|
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met)
|
rs80358656
|
0.00014
|
NM_000059.4(BRCA2):c.502C>A (p.Pro168Thr)
|
rs80358726
|
0.00014
|
NM_000093.5(COL5A1):c.3906+19C>T
|
rs571788196
|
0.00014
|
NM_000138.5(FBN1):c.6288C>T (p.Cys2096=)
|
rs144822241
|
0.00014
|
NM_000138.5(FBN1):c.736+9G>A
|
rs368241741
|
0.00014
|
NM_000142.5(FGFR3):c.2169-13G>A
|
rs370060233
|
0.00014
|
NM_000142.5(FGFR3):c.930+10C>T
|
rs534857289
|
0.00014
|
NM_000257.4(MYH7):c.3861G>C (p.Leu1287=)
|
rs150292548
|
0.00014
|
NM_000321.3(RB1):c.1306C>A (p.Gln436Lys)
|
rs4151534
|
0.00014
|
NM_000346.4(SOX9):c.930C>T (p.His310=)
|
rs138423956
|
0.00014
|
NM_000492.4(CFTR):c.2559T>C (p.Ile853=)
|
rs1800104
|
0.00014
|
NM_000546.6(TP53):c.869G>A (p.Arg290His)
|
rs55819519
|
0.00014
|
NM_000637.5(GSR):c.1500G>A (p.Thr500=)
|
rs368833049
|
0.00014
|
NM_000719.7(CACNA1C):c.1002C>T (p.Pro334=)
|
rs112002520
|
0.00014
|
NM_001042492.3(NF1):c.2133C>T (p.Arg711=)
|
rs148085908
|
0.00014
|
NM_001042492.3(NF1):c.3708+19C>T
|
rs371590712
|
0.00014
|
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=)
|
rs370868704
|
0.00014
|
NM_001114134.2(EPB42):c.1779+7A>G
|
rs200770579
|
0.00014
|
NM_001130438.3(SPTAN1):c.7161-8G>A
|
rs202180736
|
0.00014
|
NM_001148.6(ANK2):c.4372-7C>T
|
rs370720661
|
0.00014
|
NM_001148.6(ANK2):c.5457G>A (p.Ala1819=)
|
rs138113206
|
0.00014
|
NM_001199397.3(NEK1):c.594A>G (p.Thr198=)
|
rs373252814
|
0.00014
|
NM_001250.6(CD40):c.750A>G (p.Pro250=)
|
rs376780996
|
0.00014
|
NM_001267550.2(TTN):c.102102C>T (p.Phe34034=)
|
rs377354934
|
0.00014
|
NM_001267550.2(TTN):c.103104A>G (p.Leu34368=)
|
rs371535721
|
0.00014
|
NM_001267550.2(TTN):c.30888A>G (p.Lys10296=)
|
rs587780978
|
0.00014
|
NM_001267550.2(TTN):c.74042A>G (p.Gln24681Arg)
|
rs537071956
|
0.00014
|
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=)
|
rs371656672
|
0.00014
|
NM_001378454.1(ALMS1):c.9633G>A (p.Lys3211=)
|
rs373013570
|
0.00014
|
NM_001770.6(CD19):c.390T>A (p.Gly130=)
|
rs573154781
|
0.00014
|
NM_001844.5(COL2A1):c.1635C>T (p.Asn545=)
|
rs141321284
|
0.00014
|
NM_002474.3(MYH11):c.3121+19G>A
|
rs369952802
|
0.00014
|
NM_002474.3(MYH11):c.5160C>T (p.Ser1720=)
|
rs199564260
|
0.00014
|
NM_002972.4(SBF1):c.4521C>T (p.Pro1507=)
|
rs534889802
|
0.00014
|
NM_003978.5(PSTPIP1):c.555C>T (p.Thr185=)
|
rs370782742
|
0.00014
|
NM_004006.3(DMD):c.7151C>A (p.Ser2384Tyr)
|
rs185706283
|
0.00014
|
NM_004333.6(BRAF):c.1141-12A>G
|
rs375704079
|
0.00014
|
NM_015046.7(SETX):c.390C>T (p.Asn130=)
|
rs138363625
|
0.00014
|
NM_016938.5(EFEMP2):c.1095G>A (p.Ala365=)
|
rs369627072
|
0.00014
|
NM_017617.5(NOTCH1):c.6509G>A (p.Ser2170Asn)
|
rs200254239
|
0.00014
|
NM_030943.4(AMN):c.1086G>A (p.Ala362=)
|
rs959195796
|
0.00014
|
NM_032119.4(ADGRV1):c.2456G>A (p.Ser819Asn)
|
rs182395524
|
0.00014
|
NM_053025.4(MYLK):c.2919G>A (p.Pro973=)
|
rs149482336
|
0.00014
|
NM_000023.4(SGCA):c.408C>T (p.Ala136=)
|
rs143551687
|
0.00013
|
NM_000038.6(APC):c.1548+17T>C
|
rs367690523
|
0.00013
|
NM_000051.4(ATM):c.1773T>C (p.Asn591=)
|
rs61734356
|
0.00013
|
NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val)
|
rs80358589
|
0.00013
|
NM_000059.4(BRCA2):c.6960G>A (p.Leu2320=)
|
rs373134168
|
0.00013
|
NM_000069.3(CACNA1S):c.4954C>T (p.Arg1652Cys)
|
rs143933255
|
0.00013
|
NM_000089.4(COL1A2):c.2904C>T (p.Pro968=)
|
rs142352627
|
0.00013
|
NM_000093.5(COL5A1):c.1476C>T (p.Val492=)
|
rs141093527
|
0.00013
|
NM_000138.5(FBN1):c.8232G>A (p.Gln2744=)
|
rs376119827
|
0.00013
|
NM_000256.3(MYBPC3):c.772+9G>T
|
rs566339669
|
0.00013
|
NM_000297.4(PKD2):c.994T>G (p.Ser332Ala)
|
rs200314088
|
0.00013
|
NM_000302.4(PLOD1):c.303C>T (p.Ser101=)
|
rs147980436
|
0.00013
|
NM_000302.4(PLOD1):c.644-11C>T
|
rs375303994
|
0.00013
|
NM_000393.5(COL5A2):c.2970G>C (p.Gly990=)
|
rs933589600
|
0.00013
|
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys)
|
rs63750649
|
0.00013
|
NM_000558.5(HBA1):c.198G>A (p.Ala66=)
|
rs772025927
|
0.00013
|
NM_001002010.5(NT5C3A):c.354+6C>A
|
rs572060959
|
0.00013
|
NM_001009944.3(PKD1):c.10051-29G>A
|
rs763563760
|
0.00013
|
NM_001013703.4(EIF2AK4):c.60G>A (p.Pro20=)
|
rs372761392
|
0.00013
|
NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser)
|
rs375205247
|
0.00013
|
NM_001130823.3(DNMT1):c.2667C>T (p.Tyr889=)
|
rs199832007
|
0.00013
|
NM_001142864.4(PIEZO1):c.4496-13C>T
|
rs543403418
|
0.00013
|
NM_001267550.2(TTN):c.36405G>A (p.Val12135=)
|
rs373815877
|
0.00013
|
NM_001267550.2(TTN):c.38875+20G>T
|
rs773913022
|
0.00013
|
NM_001270508.2(TNFAIP3):c.619A>C (p.Ile207Leu)
|
rs141807543
|
0.00013
|
NM_001355436.2(SPTB):c.5943C>T (p.Arg1981=)
|
rs75000411
|
0.00013
|
NM_001355436.2(SPTB):c.6361A>G (p.Thr2121Ala)
|
rs571733505
|
0.00013
|
NM_001386125.1(OBSCN):c.3185C>T (p.Ser1062Phe)
|
rs200058427
|
0.00013
|
NM_001999.4(FBN2):c.4902C>T (p.Pro1634=)
|
rs201071253
|
0.00013
|
NM_002471.4(MYH6):c.4526-9G>C
|
rs201785356
|
0.00013
|
NM_003242.6(TGFBR2):c.94+16238C>T
|
rs149757320
|
0.00013
|
NM_004281.4(BAG3):c.1029C>A (p.Arg343=)
|
rs117972572
|
0.00013
|
NM_004304.5(ALK):c.3173-11C>T
|
rs79339096
|
0.00013
|
NM_005188.4(CBL):c.-5A>G
|
rs552214111
|
0.00013
|
NM_005529.7(HSPG2):c.10721-8C>T
|
rs371225050
|
0.00013
|
NM_005529.7(HSPG2):c.7107T>C (p.His2369=)
|
rs150126997
|
0.00013
|
NM_006031.6(PCNT):c.4554C>T (p.Arg1518=)
|
rs751932532
|
0.00013
|
NM_006888.6(CALM1):c.324C>T (p.His108=)
|
rs139706811
|
0.00013
|
NM_007294.4(BRCA1):c.1911T>C (p.Thr637=)
|
rs62625305
|
0.00013
|
NM_014000.3(VCL):c.2827C>G (p.Pro943Ala)
|
rs71579375
|
0.00013
|
NM_022367.4(SEMA4A):c.1694-13C>G
|
rs144540956
|
0.00013
|
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=)
|
rs202228407
|
0.00013
|
NM_133459.4(CCBE1):c.843A>T (p.Pro281=)
|
rs191592668
|
0.00013
|
NM_144687.4(NLRP12):c.2895G>A (p.Leu965=)
|
rs369220717
|
0.00013
|
NM_182925.5(FLT4):c.504G>A (p.Thr168=)
|
rs145513301
|
0.00013
|
NM_000051.4(ATM):c.2839-18T>C
|
rs553155942
|
0.00012
|
NM_000053.4(ATP7B):c.3402C>T (p.Pro1134=)
|
rs145887771
|
0.00012
|
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile)
|
rs80358479
|
0.00012
|
NM_000093.5(COL5A1):c.850G>A (p.Glu284Lys)
|
rs75648697
|
0.00012
|
NM_000219.6(KCNE1):c.162C>T (p.Phe54=)
|
rs17173508
|
0.00012
|
NM_000256.3(MYBPC3):c.2614G>A (p.Glu872Lys)
|
rs190765116
|
0.00012
|
NM_000311.5(PRNP):c.306G>A (p.Pro102=)
|
rs370426100
|
0.00012
|
NM_000316.3(PTH1R):c.1155C>T (p.Leu385=)
|
rs201360775
|
0.00012
|
NM_000492.4(CFTR):c.4092G>A (p.Ala1364=)
|
rs148878126
|
0.00012
|
NM_000517.6(HBA2):c.409C>A (p.Leu137Met)
|
rs41364652
|
0.00012
|
NM_000535.7(PMS2):c.1320A>G (p.Pro440=)
|
rs138697590
|
0.00012
|
NM_000548.5(TSC2):c.4493+16C>G
|
rs45491597
|
0.00012
|
NM_001009944.3(PKD1):c.5770G>A (p.Gly1924Ser)
|
rs199947459
|
0.00012
|
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=)
|
rs140994965
|
0.00012
|
NM_001127222.2(CACNA1A):c.6526+11C>G
|
rs767916527
|
0.00012
|
NM_001142864.4(PIEZO1):c.3969-14C>T
|
rs750182116
|
0.00012
|
NM_001159773.2(CANT1):c.632-15A>C
|
rs186671535
|
0.00012
|
NM_001244008.2(KIF1A):c.1221G>A (p.Leu407=)
|
rs201242759
|
0.00012
|
NM_001375808.2(LPIN2):c.2535A>C (p.Gly845=)
|
rs186864136
|
0.00012
|
NM_001376.5(DYNC1H1):c.12333G>A (p.Lys4111=)
|
rs373520665
|
0.00012
|
NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr)
|
rs201817670
|
0.00012
|
NM_001853.4(COL9A3):c.1932C>T (p.Pro644=)
|
rs550889206
|
0.00012
|
NM_002335.4(LRP5):c.3888C>T (p.Pro1296=)
|
rs752439831
|
0.00012
|
NM_002386.4(MC1R):c.717C>T (p.Gly239=)
|
rs34490506
|
0.00012
|
NM_002769.5(PRSS1):c.390C>T (p.Thr130=)
|
rs561097415
|
0.00012
|
NM_004004.6(GJB2):c.120A>C (p.Ala40=)
|
rs561870637
|
0.00012
|
NM_004444.5(EPHB4):c.246C>T (p.Gly82=)
|
rs373788065
|
0.00012
|
NM_006182.4(DDR2):c.1089C>T (p.Thr363=)
|
rs142469044
|
0.00012
|
NM_006302.3(MOGS):c.249C>G (p.Ala83=)
|
rs764778419
|
0.00012
|
NM_006939.4(SOS2):c.702G>A (p.Leu234=)
|
rs200208472
|
0.00012
|
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln)
|
rs368570187
|
0.00012
|
NM_007272.3(CTRC):c.747G>A (p.Pro249=)
|
rs150078209
|
0.00012
|
NM_007294.4(BRCA1):c.5304C>T (p.Cys1768=)
|
rs138493864
|
0.00012
|
NM_007294.4(BRCA1):c.670+26C>G
|
rs368134697
|
0.00012
|
NM_017617.5(NOTCH1):c.2805C>T (p.Pro935=)
|
rs200332386
|
0.00012
|
NM_025215.6(PUS1):c.*8G>C
|
rs775200434
|
0.00012
|
NM_203486.3(DLL3):c.870+12C>G
|
rs180859782
|
0.00012
|
NM_000033.4(ABCD1):c.50G>A (p.Arg17His)
|
rs782693577
|
0.00011
|
NM_000038.6(APC):c.3875C>T (p.Thr1292Met)
|
rs371113837
|
0.00011
|
NM_000059.4(BRCA2):c.2680G>A (p.Val894Ile)
|
rs28897715
|
0.00011
|
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro)
|
rs56172926
|
0.00011
|
NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg)
|
rs144614075
|
0.00011
|
NM_000138.5(FBN1):c.1821T>C (p.Asp607=)
|
rs149133920
|
0.00011
|
NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg)
|
rs767606368
|
0.00011
|
NM_000243.3(MEFV):c.1458C>T (p.Asp486=)
|
rs147767925
|
0.00011
|
NM_000350.3(ABCA4):c.3329-11C>T
|
rs367580653
|
0.00011
|
NM_000352.6(ABCC8):c.102G>A (p.Val34=)
|
rs189746511
|
0.00011
|
NM_000371.4(TTR):c.69+30C>T
|
rs377167174
|
0.00011
|
NM_000414.4(HSD17B4):c.1317A>G (p.Val439=)
|
rs771922933
|
0.00011
|
NM_000492.4(CFTR):c.2620-97C>T
|
rs146376436
|
0.00011
|
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val)
|
rs63751300
|
0.00011
|
NM_001003800.2(BICD2):c.1620C>T (p.His540=)
|
rs375331979
|
0.00011
|
NM_001009944.3(PKD1):c.359+34G>A
|
rs781038728
|
0.00011
|
NM_001024630.4(RUNX2):c.219G>T (p.Ala73=)
|
rs1022449962
|
0.00011
|
NM_001024630.4(RUNX2):c.581-9T>C
|
rs374414428
|
0.00011
|
NM_001035.3(RYR2):c.2630A>C (p.His877Pro)
|
rs561321743
|
0.00011
|
NM_001048174.2(MUTYH):c.1464G>A (p.Pro488=)
|
rs143796254
|
0.00011
|
NM_001110556.2(FLNA):c.1828+3A>G
|
rs368041880
|
0.00011
|
NM_001110556.2(FLNA):c.622+10C>T
|
rs781889769
|
0.00011
|
NM_001122955.4(BSCL2):c.1234+7G>A
|
rs200631909
|
0.00011
|
NM_001136193.2(FASTKD2):c.1080T>C (p.Leu360=)
|
rs376045225
|
0.00011
|
NM_001199397.3(NEK1):c.3562C>T (p.Leu1188=)
|
rs184270885
|
0.00011
|
NM_001199397.3(NEK1):c.912T>C (p.Pro304=)
|
rs139433990
|
0.00011
|
NM_001235.5(SERPINH1):c.1059C>T (p.His353=)
|
rs199548932
|
0.00011
|
NM_001267550.2(TTN):c.68211G>A (p.Ala22737=)
|
rs536824562
|
0.00011
|
NM_001355436.2(SPTB):c.4105A>G (p.Lys1369Glu)
|
rs760803657
|
0.00011
|
NM_001355436.2(SPTB):c.4511C>T (p.Ala1504Val)
|
rs200876438
|
0.00011
|
NM_001369.3(DNAH5):c.3112G>A (p.Val1038Met)
|
rs146828513
|
0.00011
|
NM_001370466.1(NOD2):c.2382-9T>A
|
rs201759367
|
0.00011
|
NM_001370466.1(NOD2):c.45C>T (p.Val15=)
|
rs766815592
|
0.00011
|
NM_001375808.2(LPIN2):c.2088-7T>G
|
rs199713353
|
0.00011
|
NM_001376.5(DYNC1H1):c.657G>A (p.Gln219=)
|
rs374440380
|
0.00011
|
NM_001377.3(DYNC2H1):c.9178A>C (p.Arg3060=)
|
rs200515728
|
0.00011
|
NM_002180.3(IGHMBP2):c.1060+10C>T
|
rs200170825
|
0.00011
|
NM_002471.4(MYH6):c.2929-3C>T
|
rs376752266
|
0.00011
|
NM_002769.5(PRSS1):c.243G>C (p.Leu81=)
|
rs142476093
|
0.00011
|
NM_002972.4(SBF1):c.1164C>T (p.Val388=)
|
rs376600058
|
0.00011
|
NM_002972.4(SBF1):c.4047A>T (p.Arg1349=)
|
rs894127251
|
0.00011
|
NM_003036.4(SKI):c.970-5C>T
|
rs755318392
|
0.00011
|
NM_003482.4(KMT2D):c.1490C>T (p.Pro497Leu)
|
rs371421459
|
0.00011
|
NM_003954.5(MAP3K14):c.1455C>T (p.Gly485=)
|
rs549438131
|
0.00011
|
NM_004281.4(BAG3):c.415C>T (p.Arg139Trp)
|
rs556465096
|
0.00011
|
NM_004329.3(BMPR1A):c.961C>T (p.Leu321=)
|
rs377412651
|
0.00011
|
NM_004415.4(DSP):c.6753G>A (p.Lys2251=)
|
rs750294829
|
0.00011
|
NM_004415.4(DSP):c.687C>T (p.Gly229=)
|
rs112877191
|
0.00011
|
NM_004415.4(DSP):c.816G>A (p.Leu272=)
|
rs376184294
|
0.00011
|
NM_004444.5(EPHB4):c.420G>A (p.Thr140=)
|
rs760088877
|
0.00011
|
NM_004444.5(EPHB4):c.965-18C>T
|
rs370366072
|
0.00011
|
NM_004612.4(TGFBR1):c.344-31G>A
|
rs182276673
|
0.00011
|
NM_005529.7(HSPG2):c.6927C>T (p.Tyr2309=)
|
rs552716935
|
0.00011
|
NM_006031.6(PCNT):c.4775T>G (p.Val1592Gly)
|
rs141276542
|
0.00011
|
NM_006231.4(POLE):c.285+13C>A
|
rs76960367
|
0.00011
|
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val)
|
rs80357280
|
0.00011
|
NM_014845.6(FIG4):c.1863C>A (p.Thr621=)
|
rs201744761
|
0.00011
|
NM_014920.5(CILK1):c.645G>T (p.Val215=)
|
rs145373700
|
0.00011
|
NM_020975.6(RET):c.1522+35C>T
|
rs377130948
|
0.00011
|
NM_020975.6(RET):c.337+11C>T
|
rs754967305
|
0.00011
|
NM_021815.5(SLC5A7):c.619T>C (p.Leu207=)
|
rs139476914
|
0.00011
|
NM_024675.4(PALB2):c.2027T>C (p.Ile676Thr)
|
rs200875161
|
0.00011
|
NM_032043.3(BRIP1):c.249A>G (p.Gln83=)
|
rs45528833
|
0.00011
|
NM_032638.5(GATA2):c.42G>T (p.Pro14=)
|
rs372722885
|
0.00011
|
NM_147127.5(EVC2):c.3858C>T (p.His1286=)
|
rs368103321
|
0.00011
|
NM_000018.4(ACADVL):c.62+9G>A
|
rs369512281
|
0.00010
|
NM_000051.4(ATM):c.6382T>C (p.Leu2128=)
|
rs753646931
|
0.00010
|
NM_000138.5(FBN1):c.2094G>T (p.Pro698=)
|
rs144775475
|
0.00010
|
NM_000142.5(FGFR3):c.740-17G>A
|
rs371424896
|
0.00010
|
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu)
|
rs191109849
|
0.00010
|
NM_000182.5(HADHA):c.810G>A (p.Ala270=)
|
rs376632479
|
0.00010
|
NM_000188.3(HK1):c.2634G>A (p.Thr878=)
|
rs371194258
|
0.00010
|
NM_000264.5(PTCH1):c.2859C>T (p.Ala953=)
|
rs142131559
|
0.00010
|
NM_000335.5(SCN5A):c.4299T>C (p.Tyr1433=)
|
rs200556220
|
0.00010
|
NM_000355.4(TCN2):c.921A>C (p.Pro307=)
|
rs138738105
|
0.00010
|
NM_000435.3(NOTCH3):c.4560G>T (p.Pro1520=)
|
rs370010007
|
0.00010
|
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val)
|
rs111033423
|
0.00010
|
NM_000517.6(HBA2):c.375C>G (p.Ser125=)
|
rs775058691
|
0.00010
|
NM_000517.6(HBA2):c.95+36C>T
|
rs1455019991
|
0.00010
|
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr)
|
rs114090343
|
0.00010
|
NM_000546.6(TP53):c.673-37C>T
|
rs374907737
|
0.00010
|
NM_000552.5(VWF):c.1533+15G>A
|
rs184217564
|
0.00010
|
NM_000642.3(AGL):c.1284-4A>G
|
rs372612377
|
0.00010
|
NM_001009944.3(PKD1):c.7209+24C>T
|
rs755674171
|
0.00010
|
NM_001035.3(RYR2):c.12114T>C (p.Asp4038=)
|
rs368103385
|
0.00010
|
NM_001105206.3(LAMA4):c.1821G>A (p.Lys607=)
|
rs374481199
|
0.00010
|
NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=)
|
rs200363918
|
0.00010
|
NM_001110556.2(FLNA):c.6612C>T (p.Pro2204=)
|
rs375499070
|
0.00010
|
NM_001142864.4(PIEZO1):c.6705C>T (p.Phe2235=)
|
rs747798306
|
0.00010
|
NM_001142864.4(PIEZO1):c.6906C>T (p.Arg2302=)
|
rs570953388
|
0.00010
|
NM_001142864.4(PIEZO1):c.7558A>G (p.Lys2520Glu)
|
rs570744198
|
0.00010
|
NM_001148.6(ANK2):c.962G>A (p.Arg321Gln)
|
rs150226540
|
0.00010
|
NM_001267550.2(TTN):c.1815T>C (p.Thr605=)
|
rs757604614
|
0.00010
|
NM_001355436.2(SPTB):c.1773C>G (p.Thr591=)
|
rs565667858
|
0.00010
|
NM_001360016.2(G6PD):c.519C>T (p.Phe173=)
|
rs200111236
|
0.00010
|
NM_001360016.2(G6PD):c.957C>T (p.Thr319=)
|
rs199702562
|
0.00010
|
NM_001370259.2(MEN1):c.1638G>A (p.Pro546=)
|
rs368783097
|
0.00010
|
NM_001370466.1(NOD2):c.1608C>T (p.Tyr536=)
|
rs111608429
|
0.00010
|
NM_001376.5(DYNC1H1):c.7317C>T (p.His2439=)
|
rs200197781
|
0.00010
|
NM_001386125.1(OBSCN):c.12134C>T (p.Ser4045Leu)
|
rs779979102
|
0.00010
|
NM_001395413.1(POR):c.1191G>A (p.Ser397=)
|
rs372401863
|
0.00010
|
NM_001395413.1(POR):c.1509C>T (p.Asn503=)
|
rs782397055
|
0.00010
|
NM_001498.4(GCLC):c.984A>T (p.Arg328=)
|
rs181411098
|
0.00010
|
NM_002230.4(JUP):c.707+20G>A
|
rs782523305
|
0.00010
|
NM_002474.3(MYH11):c.4809G>A (p.Thr1603=)
|
rs140577744
|
0.00010
|
NM_003954.5(MAP3K14):c.2520C>T (p.Ser840=)
|
rs571898629
|
0.00010
|
NM_004006.3(DMD):c.6414T>C (p.His2138=)
|
rs753999355
|
0.00010
|
NM_004082.5(DCTN1):c.3212-10G>A
|
rs201516838
|
0.00010
|
NM_005188.4(CBL):c.2542G>A (p.Ala848Thr)
|
rs141710973
|
0.00010
|
NM_005529.7(HSPG2):c.355-18C>T
|
rs746344135
|
0.00010
|
NM_005529.7(HSPG2):c.4758C>T (p.Ala1586=)
|
rs374708543
|
0.00010
|
NM_005529.7(HSPG2):c.9909G>A (p.Thr3303=)
|
rs201898411
|
0.00010
|
NM_005902.4(SMAD3):c.207-13C>T
|
rs200548744
|
0.00010
|
NM_007294.4(BRCA1):c.4185+30G>A
|
rs80358139
|
0.00010
|
NM_007294.4(BRCA1):c.4185+40T>G
|
rs781561618
|
0.00010
|
NM_014920.5(CILK1):c.84G>A (p.Glu28=)
|
rs56194620
|
0.00010
|
NM_015627.3(LDLRAP1):c.423C>T (p.Leu141=)
|
rs140170877
|
0.00010
|
NM_017617.5(NOTCH1):c.390G>A (p.Pro130=)
|
rs61751559
|
0.00010
|
NM_017617.5(NOTCH1):c.4096G>A (p.Gly1366Ser)
|
rs778270588
|
0.00010
|
NM_017617.5(NOTCH1):c.6744C>T (p.Asn2248=)
|
rs372771288
|
0.00010
|
NM_017617.5(NOTCH1):c.6788G>A (p.Arg2263Gln)
|
rs200521815
|
0.00010
|
NM_021625.5(TRPV4):c.1398C>T (p.Phe466=)
|
rs146929022
|
0.00010
|
NM_052859.4(RFT1):c.827-14T>C
|
rs571722733
|
0.00010
|
NM_138477.4(CDAN1):c.2007+10C>T
|
rs372645598
|
0.00010
|
NM_177438.3(DICER1):c.439-7A>T
|
rs376762569
|
0.00010
|
NM_000037.4(ANK1):c.1926C>T (p.Ala642=)
|
rs534680895
|
0.00009
|
NM_000037.4(ANK1):c.4136C>T (p.Pro1379Leu)
|
rs748160803
|
0.00009
|
NM_000059.4(BRCA2):c.*14C>T
|
rs373436334
|
0.00009
|
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser)
|
rs80358572
|
0.00009
|
NM_000059.4(BRCA2):c.4314C>T (p.Val1438=)
|
rs730881590
|
0.00009
|
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=)
|
rs45520945
|
0.00009
|
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=)
|
rs41293491
|
0.00009
|
NM_000059.4(BRCA2):c.4977C>T (p.Ser1659=)
|
rs45484897
|
0.00009
|
NM_000088.4(COL1A1):c.588+15C>T
|
rs371817394
|
0.00009
|
NM_000093.5(COL5A1):c.2134-11G>C
|
rs369317619
|
0.00009
|
NM_000093.5(COL5A1):c.3691-9T>C
|
rs187584029
|
0.00009
|
NM_000093.5(COL5A1):c.804C>T (p.Gly268=)
|
rs147729713
|
0.00009
|
NM_000138.5(FBN1):c.5225-13T>G
|
rs367786211
|
0.00009
|
NM_000138.5(FBN1):c.5296+12C>T
|
rs566030960
|
0.00009
|
NM_000243.3(MEFV):c.198C>T (p.Ala66=)
|
rs149380763
|
0.00009
|
NM_000249.4(MLH1):c.2103+14G>A
|
rs769533221
|
0.00009
|
NM_000256.3(MYBPC3):c.851+18C>T
|
rs377287239
|
0.00009
|
NM_000257.4(MYH7):c.2183C>T (p.Ala728Val)
|
rs121913644
|
0.00009
|
NM_000302.4(PLOD1):c.1203-3C>T
|
rs376288573
|
0.00009
|
NM_000335.5(SCN5A):c.3951G>A (p.Glu1317=)
|
rs769473892
|
0.00009
|
NM_000337.6(SGCD):c.717G>A (p.Ala239=)
|
rs145430692
|
0.00009
|
NM_000371.4(TTR):c.354C>T (p.Asn118=)
|
rs11541797
|
0.00009
|
NM_000384.3(APOB):c.9804G>A (p.Ser3268=)
|
rs144106662
|
0.00009
|
NM_000435.3(NOTCH3):c.4053C>T (p.Arg1351=)
|
rs927758025
|
0.00009
|
NM_000492.4(CFTR):c.3140-33A>G
|
rs373016758
|
0.00009
|
NM_000492.4(CFTR):c.3718-24G>A
|
rs374013084
|
0.00009
|
NM_000518.4(HBB):c.-132G>T
|
rs887821047
|
0.00009
|
NM_000546.6(TP53):c.6G>A (p.Glu2=)
|
rs143458271
|
0.00009
|
NM_000548.5(TSC2):c.4302C>T (p.Gly1434=)
|
rs137854000
|
0.00009
|
NM_000834.5(GRIN2B):c.4311C>T (p.Ala1437=)
|
rs112265127
|
0.00009
|
NM_001009944.3(PKD1):c.10168-34G>A
|
rs183682478
|
0.00009
|
NM_001009944.3(PKD1):c.10872G>A (p.Pro3624=)
|
rs201417193
|
0.00009
|
NM_001042492.3(NF1):c.5757G>A (p.Glu1919=)
|
rs141077224
|
0.00009
|
NM_001042492.3(NF1):c.7322-14C>T
|
rs377244887
|
0.00009
|
NM_001042492.3(NF1):c.7739-33G>A
|
rs199706010
|
0.00009
|
NM_001048174.2(MUTYH):c.612C>T (p.Thr204=)
|
rs780747266
|
0.00009
|
NM_001079802.2(FKTN):c.1172+13T>C
|
rs768792475
|
0.00009
|
NM_001110556.2(FLNA):c.4533T>C (p.Tyr1511=)
|
rs191786597
|
0.00009
|
NM_001110556.2(FLNA):c.4908C>T (p.Ala1636=)
|
rs367979917
|
0.00009
|
NM_001130823.3(DNMT1):c.4116-16T>A
|
rs775700127
|
0.00009
|
NM_001142864.4(PIEZO1):c.4111C>T (p.Arg1371Cys)
|
rs570638507
|
0.00009
|
NM_001151.4(SLC25A4):c.72C>G (p.Thr24=)
|
rs910320605
|
0.00009
|
NM_001267550.2(TTN):c.13884C>T (p.Ser4628=)
|
rs183328495
|
0.00009
|
NM_001267550.2(TTN):c.24227-16G>A
|
rs377340591
|
0.00009
|
NM_001267550.2(TTN):c.57544+7dup
|
rs750881309
|
0.00009
|
NM_001267550.2(TTN):c.7058-17C>T
|
rs572098454
|
0.00009
|
NM_001267550.2(TTN):c.72802C>T (p.Arg24268Cys)
|
rs370474301
|
0.00009
|
NM_001370259.2(MEN1):c.655-4del
|
rs748005956
|
0.00009
|
NM_001395413.1(POR):c.357+14G>A
|
rs372941705
|
0.00009
|
NM_001457.4(FLNB):c.1461C>T (p.Leu487=)
|
rs374727625
|
0.00009
|
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=)
|
rs147633551
|
0.00009
|
NM_002296.4(LBR):c.951A>G (p.Val317=)
|
rs199748938
|
0.00009
|
NM_002474.3(MYH11):c.5277C>T (p.Val1759=)
|
rs112564682
|
0.00009
|
NM_002529.4(NTRK1):c.575-16C>T
|
rs143312136
|
0.00009
|
NM_003036.4(SKI):c.897C>T (p.Arg299=)
|
rs773901705
|
0.00009
|
NM_003126.4(SPTA1):c.4875+13G>A
|
rs776588829
|
0.00009
|
NM_003978.5(PSTPIP1):c.930-14C>T
|
rs200876675
|
0.00009
|
NM_004333.6(BRAF):c.1993-11T>C
|
rs750297886
|
0.00009
|
NM_004415.4(DSP):c.3981C>T (p.Ile1327=)
|
rs397516934
|
0.00009
|
NM_005188.4(CBL):c.1566T>C (p.Ala522=)
|
rs371065029
|
0.00009
|
NM_006031.6(PCNT):c.1155A>G (p.Ala385=)
|
rs201944549
|
0.00009
|
NM_006231.4(POLE):c.3049C>T (p.Leu1017=)
|
rs371831931
|
0.00009
|
NM_006445.4(PRPF8):c.4202+19A>G
|
rs1279339161
|
0.00009
|
NM_007194.4(CHEK2):c.1095+19G>A
|
rs200020484
|
0.00009
|
NM_007294.4(BRCA1):c.2352G>A (p.Ser784=)
|
rs372017932
|
0.00009
|
NM_012452.3(TNFRSF13B):c.577T>C (p.Cys193Arg)
|
rs764125338
|
0.00009
|
NM_016938.5(EFEMP2):c.882C>T (p.Cys294=)
|
rs371712739
|
0.00009
|
NM_017617.5(NOTCH1):c.2352C>T (p.Ser784=)
|
rs774701000
|
0.00009
|
NM_017617.5(NOTCH1):c.5019-6G>A
|
rs978561896
|
0.00009
|
NM_018972.4(GDAP1):c.894T>C (p.Asn298=)
|
rs756599272
|
0.00009
|
NM_018979.4(WNK1):c.5418A>G (p.Pro1806=)
|
rs56245971
|
0.00009
|
NM_022489.4(INF2):c.1499C>T (p.Pro500Leu)
|
rs561201601
|
0.00009
|
NM_022489.4(INF2):c.3654C>T (p.Thr1218=)
|
rs557462297
|
0.00009
|
NM_023110.3(FGFR1):c.69G>A (p.Pro23=)
|
rs369704492
|
0.00009
|
NM_024577.4(SH3TC2):c.549C>T (p.Ala183=)
|
rs147013935
|
0.00009
|
NM_024675.4(PALB2):c.12T>C (p.Pro4=)
|
rs567706422
|
0.00009
|
NM_053025.4(MYLK):c.2589G>A (p.Glu863=)
|
rs536506601
|
0.00009
|
NM_053025.4(MYLK):c.3183C>T (p.Ser1061=)
|
rs370194660
|
0.00009
|
NM_147127.5(EVC2):c.3519C>T (p.Ser1173=)
|
rs749446584
|
0.00009
|
NM_152594.3(SPRED1):c.1192G>A (p.Asp398Asn)
|
rs771480941
|
0.00009
|
NM_000018.4(ACADVL):c.1182+17C>A
|
rs191276923
|
0.00008
|
NM_000038.6(APC):c.-19+509G>A
|
rs745770540
|
0.00008
|
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly)
|
rs201375478
|
0.00008
|
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg)
|
rs80358730
|
0.00008
|
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys)
|
rs55996097
|
0.00008
|
NM_000059.4(BRCA2):c.9501+3A>T
|
rs61757642
|
0.00008
|
NM_000088.4(COL1A1):c.2424C>T (p.Pro808=)
|
rs369699409
|
0.00008
|
NM_000093.5(COL5A1):c.5250G>A (p.Val1750=)
|
rs200348547
|
0.00008
|
NM_000138.5(FBN1):c.5297-19A>G
|
rs375665466
|
0.00008
|
NM_000142.5(FGFR3):c.739+16C>T
|
rs757999433
|
0.00008
|
NM_000188.3(HK1):c.375+10T>C
|
rs375270735
|
0.00008
|
NM_000276.4(OCRL):c.561-7T>A
|
rs376622194
|
0.00008
|
NM_000289.6(PFKM):c.1501-15C>T
|
rs756212415
|
0.00008
|
NM_000335.5(SCN5A):c.3207G>A (p.Thr1069=)
|
rs371686822
|
0.00008
|
NM_000719.7(CACNA1C):c.5529T>C (p.His1843=)
|
rs371831239
|
0.00008
|
NM_001003800.2(BICD2):c.2350A>G (p.Met784Val)
|
rs149891938
|
0.00008
|
NM_001009944.3(PKD1):c.8016+7T>C
|
rs746089639
|
0.00008
|
NM_001009944.3(PKD1):c.9093G>T (p.Leu3031=)
|
rs1159235832
|
0.00008
|
NM_001035.3(RYR2):c.7608T>C (p.Ala2536=)
|
rs367987360
|
0.00008
|
NM_001110556.2(FLNA):c.2571G>A (p.Thr857=)
|
rs1208353421
|
0.00008
|
NM_001110556.2(FLNA):c.3877G>A (p.Val1293Ile)
|
rs782265007
|
0.00008
|
NM_001199397.3(NEK1):c.1080+20G>A
|
rs192292678
|
0.00008
|
NM_001199397.3(NEK1):c.1750-6T>C
|
rs187716707
|
0.00008
|
NM_001267550.2(TTN):c.2760C>T (p.His920=)
|
rs138788406
|
0.00008
|
NM_001360016.2(G6PD):c.1405C>T (p.Leu469=)
|
rs369482861
|
0.00008
|
NM_001711.6(BGN):c.566-8T>C
|
rs781871609
|
0.00008
|
NM_001854.4(COL11A1):c.456C>T (p.Pro152=)
|
rs751512442
|
0.00008
|
NM_002180.3(IGHMBP2):c.2691C>T (p.Cys897=)
|
rs146286133
|
0.00008
|
NM_002485.5(NBN):c.38-19A>T
|
rs766849651
|
0.00008
|
NM_002890.3(RASA1):c.2488-20T>G
|
rs369400038
|
0.00008
|
NM_003001.5(SDHC):c.405+13G>A
|
rs369274171
|
0.00008
|
NM_003242.6(TGFBR2):c.577C>T (p.Arg193Trp)
|
rs61762550
|
0.00008
|
NM_003640.5(ELP1):c.3346+7G>T
|
rs144631706
|
0.00008
|
NM_003978.5(PSTPIP1):c.-124C>T
|
rs760819203
|
0.00008
|
NM_005751.5(AKAP9):c.8468A>G (p.Gln2823Arg)
|
rs376528503
|
0.00008
|
NM_006206.6(PDGFRA):c.738A>G (p.Gln246=)
|
rs377699966
|
0.00008
|
NM_007294.4(BRCA1):c.4644G>A (p.Thr1548=)
|
rs28897692
|
0.00008
|
NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val)
|
rs80357465
|
0.00008
|
NM_007294.4(BRCA1):c.987T>C (p.Asn329=)
|
rs774849810
|
0.00008
|
NM_015046.7(SETX):c.1221A>G (p.Thr407=)
|
rs377618570
|
0.00008
|
NM_019844.4(SLCO1B3):c.459A>G (p.Thr153=)
|
rs370334648
|
0.00008
|
NM_023110.3(FGFR1):c.1888C>T (p.Leu630=)
|
rs746123129
|
0.00008
|
NM_024753.5(TTC21B):c.3552G>A (p.Ala1184=)
|
rs148113339
|
0.00008
|
NM_030662.4(MAP2K2):c.258C>A (p.Val86=)
|
rs148437150
|
0.00008
|
NM_032638.5(GATA2):c.229+15C>G
|
rs767013148
|
0.00008
|
NM_033360.4(KRAS):c.5-11A>G
|
rs369047577
|
0.00008
|
NM_053025.4(MYLK):c.3832-9C>T
|
rs200022087
|
0.00008
|
NM_144687.4(NLRP12):c.3147G>A (p.Ala1049=)
|
rs148506660
|
0.00008
|
NM_153717.3(EVC):c.2895-4T>C
|
rs775049818
|
0.00008
|
NM_170707.4(LMNA):c.471G>A (p.Thr157=)
|
rs150645079
|
0.00008
|
NM_000018.4(ACADVL):c.63-31C>T
|
rs372982295
|
0.00007
|
NM_000053.4(ATP7B):c.4021+34G>A
|
rs373250873
|
0.00007
|
NM_000059.4(BRCA2):c.1167G>A (p.Pro389=)
|
rs148607710
|
0.00007
|
NM_000059.4(BRCA2):c.3173A>G (p.Lys1058Arg)
|
rs431825302
|
0.00007
|
NM_000071.3(CBS):c.1338G>A (p.Ala446=)
|
rs373962057
|
0.00007
|
NM_000093.5(COL5A1):c.4748C>T (p.Thr1583Met)
|
rs375076580
|
0.00007
|
NM_000249.4(MLH1):c.42A>C (p.Thr14=)
|
rs369737664
|
0.00007
|
NM_000291.4(PGK1):c.846G>C (p.Leu282Phe)
|
rs782668224
|
0.00007
|
NM_000455.5(STK11):c.357C>T (p.Asn119=)
|
rs372511774
|
0.00007
|
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys)
|
rs142920240
|
0.00007
|
NM_000492.4(CFTR):c.4224G>A (p.Leu1408=)
|
rs1800134
|
0.00007
|
NM_000517.6(HBA2):c.*98T>C
|
rs1455865276
|
0.00007
|
NM_000518.5(HBB):c.389C>T (p.Ala130Val)
|
rs111645889
|
0.00007
|
NM_000558.5(HBA1):c.207C>G (p.Asn69Lys)
|
rs1060339
|
0.00007
|
NM_000891.3(KCNJ2):c.1080C>T (p.Asp360=)
|
rs66476803
|
0.00007
|
NM_001009944.3(PKD1):c.11713-3C>T
|
rs754015180
|
0.00007
|
NM_001009944.3(PKD1):c.8195G>A (p.Arg2732Gln)
|
rs78185588
|
0.00007
|
NM_001009944.3(PKD1):c.8305C>T (p.Leu2769Phe)
|
rs771382752
|
0.00007
|
NM_001013703.4(EIF2AK4):c.420C>T (p.Pro140=)
|
rs11543185
|
0.00007
|
NM_001035.3(RYR2):c.10017C>T (p.His3339=)
|
rs376439588
|
0.00007
|
NM_001035.3(RYR2):c.11766G>A (p.Glu3922=)
|
rs774625105
|
0.00007
|
NM_001048174.2(MUTYH):c.1107G>T (p.Leu369=)
|
rs201412035
|
0.00007
|
NM_001142864.4(PIEZO1):c.1504C>T (p.Arg502Cys)
|
rs750545429
|
0.00007
|
NM_001142864.4(PIEZO1):c.988C>T (p.Arg330Cys)
|
rs546108970
|
0.00007
|
NM_001243133.2(NLRP3):c.1665C>T (p.Asp555=)
|
rs151097783
|
0.00007
|
NM_001375808.2(LPIN2):c.591-20C>G
|
rs370548322
|
0.00007
|
NM_001457.4(FLNB):c.1873G>A (p.Glu625Lys)
|
rs372998485
|
0.00007
|
NM_001457.4(FLNB):c.4449C>T (p.Tyr1483=)
|
rs118012972
|
0.00007
|
NM_001605.3(AARS1):c.1689G>A (p.Val563=)
|
rs536370318
|
0.00007
|
NM_001943.5(DSG2):c.3244C>G (p.Pro1082Ala)
|
rs191300661
|
0.00007
|
NM_002755.4(MAP2K1):c.1068+18G>A
|
rs369137482
|
0.00007
|
NM_003659.4(AGPS):c.1797+11A>G
|
rs375071040
|
0.00007
|
NM_004006.3(DMD):c.2988A>G (p.Leu996=)
|
rs148835707
|
0.00007
|
NM_005026.5(PIK3CD):c.231G>A (p.Ala77=)
|
rs756139699
|
0.00007
|
NM_005548.3(KARS1):c.1368C>T (p.Cys456=)
|
rs376044061
|
0.00007
|
NM_006493.4(CLN5):c.642A>T (p.Val214=)
|
rs751496223
|
0.00007
|
NM_007272.3(CTRC):c.356+17C>G
|
rs376786664
|
0.00007
|
NM_007294.4(BRCA1):c.593+3G>A
|
rs80358013
|
0.00007
|
NM_030962.4(SBF2):c.2436C>T (p.Ala812=)
|
rs374225152
|
0.00007
|
NM_031206.7(LAS1L):c.1341A>G (p.Ala447=)
|
rs766767923
|
0.00007
|
NM_032119.4(ADGRV1):c.6684T>A (p.Ser2228=)
|
rs373667458
|
0.00007
|
NM_033380.3(COL4A5):c.3403A>G (p.Ile1135Val)
|
rs747614562
|
0.00007
|
NM_053025.4(MYLK):c.1651+7T>C
|
rs758327487
|
0.00007
|
NM_053025.4(MYLK):c.382G>A (p.Ala128Thr)
|
rs147840022
|
0.00007
|
NM_153676.4(USH1C):c.2004C>A (p.Pro668=)
|
rs201586291
|
0.00007
|
NM_174934.4(SCN4B):c.378G>A (p.Thr126=)
|
rs376627393
|
0.00007
|
NM_182961.4(SYNE1):c.20200-3T>C
|
rs770710698
|
0.00007
|
NM_000037.4(ANK1):c.4538-6A>G
|
rs776186305
|
0.00006
|
NM_000038.6(APC):c.789T>A (p.Gly263=)
|
rs767053295
|
0.00006
|
NM_000051.4(ATM):c.7521C>T (p.Asp2507=)
|
rs751234924
|
0.00006
|
NM_000059.4(BRCA2):c.2025A>G (p.Thr675=)
|
rs147381487
|
0.00006
|
NM_000059.4(BRCA2):c.2320A>G (p.Thr774Ala)
|
rs55968715
|
0.00006
|
NM_000059.4(BRCA2):c.2490C>T (p.Asn830=)
|
rs56331088
|
0.00006
|
NM_000059.4(BRCA2):c.8662C>T (p.Arg2888Cys)
|
rs80359123
|
0.00006
|
NM_000071.3(CBS):c.1266G>A (p.Pro422=)
|
rs150146702
|
0.00006
|
NM_000071.3(CBS):c.612G>C (p.Val204=)
|
rs539670390
|
0.00006
|
NM_000088.4(COL1A1):c.1983+16C>T
|
rs536312322
|
0.00006
|
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr)
|
rs148216434
|
0.00006
|
NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His)
|
rs377278762
|
0.00006
|
NM_000090.4(COL3A1):c.1128C>T (p.His376=)
|
rs771015742
|
0.00006
|
NM_000090.4(COL3A1):c.1150-13T>C
|
rs201839712
|
0.00006
|
NM_000090.4(COL3A1):c.3061C>A (p.Leu1021Ile)
|
rs139619440
|
0.00006
|
NM_000132.4(F8):c.5604A>T (p.Ser1868=)
|
rs782028903
|
0.00006
|
NM_000138.5(FBN1):c.2793G>T (p.Gly931=)
|
rs775785545
|
0.00006
|
NM_000138.5(FBN1):c.3082+13G>A
|
rs757559866
|
0.00006
|
NM_000138.5(FBN1):c.988+20G>A
|
rs375760654
|
0.00006
|
NM_000141.5(FGFR2):c.748+19G>A
|
rs372837794
|
0.00006
|
NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu)
|
rs144995231
|
0.00006
|
NM_000142.5(FGFR3):c.468C>T (p.Pro156=)
|
rs778847955
|
0.00006
|
NM_000144.5(FXN):c.447G>A (p.Thr149=)
|
rs151193551
|
0.00006
|
NM_000152.5(GAA):c.1356C>T (p.Ala452=)
|
rs757893858
|
0.00006
|
NM_000152.5(GAA):c.1725C>T (p.Tyr575=)
|
rs112517802
|
0.00006
|
NM_000162.5(GCK):c.600G>A (p.Val200=)
|
rs773561406
|
0.00006
|
NM_000243.3(MEFV):c.1610+8G>A
|
rs765410591
|
0.00006
|
NM_000243.3(MEFV):c.2049G>A (p.Ser683=)
|
rs104895092
|
0.00006
|
NM_000243.3(MEFV):c.549G>A (p.Pro183=)
|
rs587781035
|
0.00006
|
NM_000371.4(TTR):c.355G>A (p.Asp119Asn)
|
rs76410435
|
0.00006
|
NM_000398.7(CYB5R3):c.903C>T (p.Phe301=)
|
rs150607528
|
0.00006
|
NM_000431.4(MVK):c.527+10G>A
|
rs368909134
|
0.00006
|
NM_000431.4(MVK):c.855C>T (p.Ala285=)
|
rs550696805
|
0.00006
|
NM_000435.3(NOTCH3):c.120C>G (p.Ala40=)
|
rs146904189
|
0.00006
|
NM_000435.3(NOTCH3):c.1840+8C>T
|
rs372100017
|
0.00006
|
NM_000435.3(NOTCH3):c.2070A>G (p.Pro690=)
|
rs370780913
|
0.00006
|
NM_000435.3(NOTCH3):c.3642C>T (p.Cys1214=)
|
rs78985996
|
0.00006
|
NM_000435.3(NOTCH3):c.390C>T (p.His130=)
|
rs139597834
|
0.00006
|
NM_000459.5(TEK):c.1313A>G (p.Asn438Ser)
|
rs189543659
|
0.00006
|
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys)
|
rs3738885
|
0.00006
|
NM_000492.4(CFTR):c.1519A>G (p.Ile507Val)
|
rs1801178
|
0.00006
|
NM_000492.4(CFTR):c.2769C>T (p.Ala923=)
|
rs1800108
|
0.00006
|
NM_000492.4(CFTR):c.3964-16T>C
|
rs199672530
|
0.00006
|
NM_000492.4(CFTR):c.4296C>T (p.Asn1432=)
|
rs761669740
|
0.00006
|
NM_000492.4(CFTR):c.663G>A (p.Ala221=)
|
rs758147990
|
0.00006
|
NM_000527.5(LDLR):c.1428C>T (p.Pro476=)
|
rs543392107
|
0.00006
|
NM_000546.6(TP53):c.618G>A (p.Leu206=)
|
rs142813240
|
0.00006
|
NM_000546.6(TP53):c.920-17C>A
|
rs911934766
|
0.00006
|
NM_000548.5(TSC2):c.1946+15G>A
|
rs752601710
|
0.00006
|
NM_000548.5(TSC2):c.5117G>A (p.Arg1706His)
|
rs45517392
|
0.00006
|
NM_000558.4(HBA1):c.-41C>G
|
rs750737757
|
0.00006
|
NM_000559.3(HBG1):c.364G>A (p.Glu122Lys)
|
rs33963857
|
0.00006
|
NM_001003800.2(BICD2):c.1749C>T (p.Pro583=)
|
rs777813587
|
0.00006
|
NM_001009944.3(PKD1):c.5703C>T (p.Pro1901=)
|
rs773475991
|
0.00006
|
NM_001009944.3(PKD1):c.7490-38C>T
|
rs775658891
|
0.00006
|
NM_001009944.3(PKD1):c.8325G>A (p.Thr2775=)
|
rs540387350
|
0.00006
|
NM_001009944.3(PKD1):c.8780C>T (p.Thr2927Met)
|
rs544100161
|
0.00006
|
NM_001018008.2(TPM1):c.695G>A (p.Arg232His)
|
rs730881128
|
0.00006
|
NM_001034850.3(RETREG1):c.339A>G (p.Pro113=)
|
rs372182225
|
0.00006
|
NM_001048174.2(MUTYH):c.305-13C>G
|
rs201207780
|
0.00006
|
NM_001062.4(TCN1):c.954C>T (p.Ser318=)
|
rs138846758
|
0.00006
|
NM_001065.4(TNFRSF1A):c.1197G>T (p.Ala399=)
|
rs140486890
|
0.00006
|
NM_001065.4(TNFRSF1A):c.672T>C (p.Leu224=)
|
rs202150552
|
0.00006
|
NM_001110556.2(FLNA):c.2364G>A (p.Glu788=)
|
rs1448428046
|
0.00006
|
NM_001114753.3(ENG):c.-98G>A
|
rs923040659
|
0.00006
|
NM_001142864.4(PIEZO1):c.5214+15C>T
|
rs766231050
|
0.00006
|
NM_001244008.2(KIF1A):c.654C>T (p.His218=)
|
rs751380608
|
0.00006
|
NM_001256012.3(MYH10):c.3321G>A (p.Ala1107=)
|
rs556463800
|
0.00006
|
NM_001267550.2(TTN):c.105090C>T (p.Asp35030=)
|
rs72629789
|
0.00006
|
NM_001267550.2(TTN):c.27050-6G>A
|
rs765624428
|
0.00006
|
NM_001291303.3(FAT4):c.11906-17A>C
|
rs748245015
|
0.00006
|
NM_001297.5(CNGB1):c.2958C>T (p.Asn986=)
|
rs543509332
|
0.00006
|
NM_001355436.2(SPTB):c.2804+15G>A
|
rs750081021
|
0.00006
|
NM_001355436.2(SPTB):c.4574A>G (p.Asn1525Ser)
|
rs373724473
|
0.00006
|
NM_001364905.1(LRBA):c.4416G>A (p.Leu1472=)
|
rs746401908
|
0.00006
|
NM_001369.3(DNAH5):c.10330C>T (p.Leu3444=)
|
rs201881960
|
0.00006
|
NM_001375808.2(LPIN2):c.608C>T (p.Ser203Phe)
|
rs144555528
|
0.00006
|
NM_001375808.2(LPIN2):c.858G>A (p.Arg286=)
|
rs548077620
|
0.00006
|
NM_001376.5(DYNC1H1):c.318C>T (p.Asp106=)
|
rs752702437
|
0.00006
|
NM_001379610.1(SPINK1):c.110A>G (p.Asn37Ser)
|
rs200142833
|
0.00006
|
NM_001386795.1(DTNA):c.1532+16C>T
|
rs562514105
|
0.00006
|
NM_001395413.1(POR):c.420C>T (p.Tyr140=)
|
rs368468521
|
0.00006
|
NM_001943.5(DSG2):c.1089G>A (p.Ser363=)
|
rs372598337
|
0.00006
|
NM_001943.5(DSG2):c.2001+20A>G
|
rs746383404
|
0.00006
|
NM_002769.5(PRSS1):c.591+8G>C
|
rs371601976
|
0.00006
|
NM_002769.5(PRSS1):c.75T>C (p.Val25=)
|
rs1249340827
|
0.00006
|
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg)
|
rs397516805
|
0.00006
|
NM_003036.4(SKI):c.1923G>A (p.Leu641=)
|
rs199666240
|
0.00006
|
NM_003036.4(SKI):c.360C>T (p.Arg120=)
|
rs375024753
|
0.00006
|
NM_003072.5(SMARCA4):c.1287G>A (p.Ala429=)
|
rs143600641
|
0.00006
|
NM_003072.5(SMARCA4):c.4302C>T (p.Asp1434=)
|
rs146747026
|
0.00006
|
NM_003126.4(SPTA1):c.54G>A (p.Leu18=)
|
rs199690643
|
0.00006
|
NM_003126.4(SPTA1):c.858A>G (p.Val286=)
|
rs370463832
|
0.00006
|
NM_003480.4(MFAP5):c.94+18T>G
|
rs766176657
|
0.00006
|
NM_003978.5(PSTPIP1):c.838+16C>T
|
rs781423711
|
0.00006
|
NM_005529.7(HSPG2):c.1494C>T (p.Leu498=)
|
rs187648591
|
0.00006
|
NM_005529.7(HSPG2):c.6912C>T (p.Ala2304=)
|
rs755251798
|
0.00006
|
NM_005529.7(HSPG2):c.9717C>T (p.Pro3239=)
|
rs375006314
|
0.00006
|
NM_005901.6(SMAD2):c.997+13T>C
|
rs772205482
|
0.00006
|
NM_006005.3(WFS1):c.1479C>T (p.Val493=)
|
rs750126396
|
0.00006
|
NM_006445.4(PRPF8):c.690C>T (p.Phe230=)
|
rs200640834
|
0.00006
|
NM_007272.3(CTRC):c.678C>T (p.Asn226=)
|
rs777608312
|
0.00006
|
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His)
|
rs55746541
|
0.00006
|
NM_007294.4(BRCA1):c.2428A>T (p.Asn810Tyr)
|
rs28897682
|
0.00006
|
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys)
|
rs80356923
|
0.00006
|
NM_014236.4(GNPAT):c.1453C>T (p.Leu485=)
|
rs370837823
|
0.00006
|
NM_014365.3(HSPB8):c.354C>T (p.Tyr118=)
|
rs374476577
|
0.00006
|
NM_014920.5(CILK1):c.358+12G>A
|
rs771886690
|
0.00006
|
NM_015046.7(SETX):c.1227A>G (p.Leu409=)
|
rs769913556
|
0.00006
|
NM_015046.7(SETX):c.3210T>C (p.Leu1070=)
|
rs145014082
|
0.00006
|
NM_016247.4(IMPG2):c.972C>T (p.Asp324=)
|
rs762052051
|
0.00006
|
NM_017636.4(TRPM4):c.246G>T (p.Gly82=)
|
rs756668921
|
0.00006
|
NM_017668.3(NDE1):c.948-3126G>A
|
rs377410503
|
0.00006
|
NM_020631.6(PLEKHG5):c.2421G>A (p.Pro807=)
|
rs767407997
|
0.00006
|
NM_021625.5(TRPV4):c.1092C>T (p.Ala364=)
|
rs761716884
|
0.00006
|
NM_021625.5(TRPV4):c.144G>A (p.Ser48=)
|
rs748274621
|
0.00006
|
NM_024334.3(TMEM43):c.802C>T (p.Arg268Trp)
|
rs201138253
|
0.00006
|
NM_025114.4(CEP290):c.6477T>A (p.Thr2159=)
|
rs556820066
|
0.00006
|
NM_025132.4(WDR19):c.3917+15C>T
|
rs377597948
|
0.00006
|
NM_025132.4(WDR19):c.765G>C (p.Val255=)
|
rs750446561
|
0.00006
|
NM_032609.3(COX4I2):c.408G>A (p.Thr136=)
|
rs375116097
|
0.00006
|
NM_053025.4(MYLK):c.3636C>T (p.Pro1212=)
|
rs780768361
|
0.00006
|
NM_080680.3(COL11A2):c.2271C>T (p.Gly757=)
|
rs745568808
|
0.00006
|
NM_144997.7(FLCN):c.396+7C>T
|
rs781155484
|
0.00006
|
NM_147127.5(EVC2):c.2079C>T (p.Val693=)
|
rs201171209
|
0.00006
|
NM_147127.5(EVC2):c.887G>C (p.Gly296Ala)
|
rs201083070
|
0.00006
|
NM_153676.4(USH1C):c.1020-19A>G
|
rs760780173
|
0.00006
|
NM_153717.3(EVC):c.1692C>T (p.Asn564=)
|
rs138242443
|
0.00006
|
NM_182925.5(FLT4):c.1581C>T (p.Asn527=)
|
rs756153002
|
0.00006
|
NM_182925.5(FLT4):c.2648-8C>T
|
rs752689922
|
0.00006
|
NM_182961.4(SYNE1):c.666G>A (p.Pro222=)
|
rs141368652
|
0.00006
|
NM_000018.4(ACADVL):c.1606-40G>A
|
rs754515750
|
0.00005
|
NM_000037.4(ANK1):c.1197G>A (p.Ala399=)
|
rs756075877
|
0.00005
|
NM_000053.4(ATP7B):c.2604C>T (p.Pro868=)
|
rs368902724
|
0.00005
|
NM_000059.4(BRCA2):c.5985C>T (p.Asn1995=)
|
rs374620036
|
0.00005
|
NM_000059.4(BRCA2):c.7007+18T>A
|
rs377471435
|
0.00005
|
NM_000059.4(BRCA2):c.8525G>A (p.Arg2842His)
|
rs80359105
|
0.00005
|
NM_000059.4(BRCA2):c.9275A>G (p.Tyr3092Cys)
|
rs80359195
|
0.00005
|
NM_000059.4(BRCA2):c.9738C>T (p.Ala3246=)
|
rs80359811
|
0.00005
|
NM_000088.4(COL1A1):c.2028+18G>A
|
rs745829877
|
0.00005
|
NM_000089.4(COL1A2):c.1521C>T (p.Asn507=)
|
rs747938841
|
0.00005
|
NM_000093.5(COL5A1):c.2013C>T (p.Pro671=)
|
rs372082908
|
0.00005
|
NM_000112.4(SLC26A2):c.1194A>T (p.Val398=)
|
rs886038240
|
0.00005
|
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys)
|
rs187553035
|
0.00005
|
NM_000179.3(MSH6):c.3399T>C (p.Thr1133=)
|
rs61748084
|
0.00005
|
NM_000184.2(HBG2):c.122G>A (p.Arg41Lys)
|
rs281864892
|
0.00005
|
NM_000219.6(KCNE1):c.139G>A (p.Val47Ile)
|
rs199473353
|
0.00005
|
NM_000243.3(MEFV):c.-13C>G
|
rs200991336
|
0.00005
|
NM_000257.4(MYH7):c.1323G>A (p.Thr441=)
|
rs397516096
|
0.00005
|
NM_000289.6(PFKM):c.1212T>C (p.Ala404=)
|
rs1203272613
|
0.00005
|
NM_000307.5(POU3F4):c.24C>T (p.Pro8=)
|
rs756362293
|
0.00005
|
NM_000342.4(SLC4A1):c.2193C>T (p.Ser731=)
|
rs754017629
|
0.00005
|
NM_000368.5(TSC1):c.1921C>T (p.Pro641Ser)
|
rs374222196
|
0.00005
|
NM_000371.4(TTR):c.336+18C>T
|
rs370628373
|
0.00005
|
NM_000384.3(APOB):c.3294C>T (p.Asn1098=)
|
rs978418946
|
0.00005
|
NM_000463.3(UGT1A1):c.1458C>T (p.Tyr486=)
|
rs142077822
|
0.00005
|
NM_000492.4(CFTR):c.2475C>T (p.Asn825=)
|
rs746961486
|
0.00005
|
NM_000518.4(HBB):c.220G>A (p.Asp74Asn)
|
rs33945705
|
0.00005
|
NM_000527.5(LDLR):c.2251C>T (p.Arg751Trp)
|
rs756864388
|
0.00005
|
NM_000539.3(RHO):c.1020G>A (p.Thr340=)
|
rs559747229
|
0.00005
|
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp)
|
rs45517333
|
0.00005
|
NM_000552.5(VWF):c.55+15G>A
|
rs201377447
|
0.00005
|
NM_000719.7(CACNA1C):c.5931C>T (p.Val1977=)
|
rs757236915
|
0.00005
|
NM_001009944.3(PKD1):c.1515C>T (p.Ala505=)
|
rs748123570
|
0.00005
|
NM_001009944.3(PKD1):c.7488G>A (p.Thr2496=)
|
rs776604789
|
0.00005
|
NM_001035.3(RYR2):c.594C>T (p.Asn198=)
|
rs727504676
|
0.00005
|
NM_001039141.3(TRIOBP):c.7044T>C (p.Leu2348=)
|
rs373077785
|
0.00005
|
NM_001040716.2(PC):c.2469C>T (p.Asp823=)
|
rs145654496
|
0.00005
|
NM_001042492.3(NF1):c.6528T>C (p.Ile2176=)
|
rs147522129
|
0.00005
|
NM_001105206.3(LAMA4):c.1962G>A (p.Ala654=)
|
rs140246538
|
0.00005
|
NM_001114753.3(ENG):c.689+17G>A
|
rs773103359
|
0.00005
|
NM_001127671.2(LIFR):c.147T>G (p.Ala49=)
|
rs879807300
|
0.00005
|
NM_001130823.3(DNMT1):c.2268T>C (p.Thr756=)
|
rs374841430
|
0.00005
|
NM_001134363.3(RBM20):c.3523A>G (p.Thr1175Ala)
|
rs768548680
|
0.00005
|
NM_001244008.2(KIF1A):c.609-8C>T
|
rs775915390
|
0.00005
|
NM_001267550.2(TTN):c.100257T>C (p.Asp33419=)
|
rs727505046
|
0.00005
|
NM_001267550.2(TTN):c.16302C>T (p.Ser5434=)
|
rs370615208
|
0.00005
|
NM_001267550.2(TTN):c.4998A>T (p.Thr1666=)
|
rs139054950
|
0.00005
|
NM_001303256.3(MORC2):c.905-11C>T
|
rs375444407
|
0.00005
|
NM_001355436.2(SPTB):c.2435A>C (p.Glu812Ala)
|
rs144888014
|
0.00005
|
NM_001360.3(DHCR7):c.964-5C>T
|
rs767108226
|
0.00005
|
NM_001364905.1(LRBA):c.1219T>C (p.Leu407=)
|
rs190586278
|
0.00005
|
NM_001370259.2(MEN1):c.1032G>A (p.Thr344=)
|
rs760183888
|
0.00005
|
NM_001375808.2(LPIN2):c.1939-14T>C
|
rs370284164
|
0.00005
|
NM_002296.4(LBR):c.1324T>C (p.Leu442=)
|
rs61749338
|
0.00005
|
NM_002471.4(MYH6):c.4650+10G>A
|
rs760975924
|
0.00005
|
NM_002834.5(PTPN11):c.990A>C (p.Thr330=)
|
rs369739920
|
0.00005
|
NM_002890.3(RASA1):c.1722A>G (p.Ala574=)
|
rs200157130
|
0.00005
|
NM_002972.4(SBF1):c.3399C>T (p.Leu1133=)
|
rs367869582
|
0.00005
|
NM_003036.4(SKI):c.994A>G (p.Ile332Val)
|
rs374264201
|
0.00005
|
NM_003072.5(SMARCA4):c.726C>T (p.Pro242=)
|
rs578260605
|
0.00005
|
NM_003659.4(AGPS):c.1539C>T (p.Tyr513=)
|
rs980211710
|
0.00005
|
NM_003978.5(PSTPIP1):c.-123G>A
|
rs771172891
|
0.00005
|
NM_004006.3(DMD):c.145C>T (p.Arg49Cys)
|
rs147548697
|
0.00005
|
NM_004006.3(DMD):c.8322G>A (p.Leu2774=)
|
rs72466575
|
0.00005
|
NM_005334.3(HCFC1):c.3990C>T (p.Thr1330=)
|
rs1329487679
|
0.00005
|
NM_005359.6(SMAD4):c.1647A>G (p.Gln549=)
|
rs113545983
|
0.00005
|
NM_005529.7(HSPG2):c.5075G>T (p.Gly1692Val)
|
rs777795072
|
0.00005
|
NM_005751.5(AKAP9):c.6330+3A>G
|
rs771419309
|
0.00005
|
NM_006031.6(PCNT):c.7006G>A (p.Ala2336Thr)
|
rs144612972
|
0.00005
|
NM_006206.6(PDGFRA):c.3003G>A (p.Lys1001=)
|
rs373642812
|
0.00005
|
NM_006269.2(RP1):c.6210C>T (p.Asn2070=)
|
rs767325122
|
0.00005
|
NM_006445.4(PRPF8):c.6504C>T (p.Tyr2168=)
|
rs753995574
|
0.00005
|
NM_006579.3(EBP):c.445A>G (p.Ile149Val)
|
rs782032266
|
0.00005
|
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr)
|
rs80357102
|
0.00005
|
NM_007294.4(BRCA1):c.4653T>C (p.Ser1551=)
|
rs587780863
|
0.00005
|
NM_014845.6(FIG4):c.1341T>C (p.Phe447=)
|
rs199651811
|
0.00005
|
NM_016938.5(EFEMP2):c.474C>T (p.Ile158=)
|
rs779614307
|
0.00005
|
NM_024675.4(PALB2):c.3249G>C (p.Glu1083Asp)
|
rs147045425
|
0.00005
|
NM_032415.7(CARD11):c.3303C>T (p.Arg1101=)
|
rs764369378
|
0.00005
|
NM_032578.4(MYPN):c.2925+20A>C
|
rs200111945
|
0.00005
|
NM_138477.4(CDAN1):c.114G>A (p.Ala38=)
|
rs560030704
|
0.00005
|
NM_144997.7(FLCN):c.396+19G>A
|
rs767495491
|
0.00005
|
NM_144997.7(FLCN):c.779+10G>A
|
rs376357696
|
0.00005
|
NM_147127.5(EVC2):c.2556G>A (p.Arg852=)
|
rs762781823
|
0.00005
|
NM_147127.5(EVC2):c.707-20_707-19del
|
rs777343377
|
0.00005
|
NM_177438.3(DICER1):c.5096-13C>T
|
rs199506334
|
0.00005
|
NM_194248.3(OTOF):c.5610C>T (p.Thr1870=)
|
rs141119917
|
0.00005
|
NM_206933.4(USH2A):c.11390-10C>T
|
rs750110818
|
0.00005
|
NM_000033.4(ABCD1):c.1865+11C>T
|
rs781956636
|
0.00004
|
NM_000037.4(ANK1):c.5600C>T (p.Ala1867Val)
|
rs767580738
|
0.00004
|
NM_000051.4(ATM):c.-18G>A
|
rs374303671
|
0.00004
|
NM_000051.4(ATM):c.5496+11T>C
|
rs751491395
|
0.00004
|
NM_000051.4(ATM):c.7779G>A (p.Gln2593=)
|
rs770321620
|
0.00004
|
NM_000059.4(BRCA2):c.1762A>G (p.Asn588Asp)
|
rs398122731
|
0.00004
|
NM_000059.4(BRCA2):c.267G>A (p.Pro89=)
|
rs587780648
|
0.00004
|
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg)
|
rs80358545
|
0.00004
|
NM_000059.4(BRCA2):c.5626G>A (p.Glu1876Lys)
|
rs397507793
|
0.00004
|
NM_000059.4(BRCA2):c.6143A>T (p.Asn2048Ile)
|
rs80358853
|
0.00004
|
NM_000059.4(BRCA2):c.6290C>T (p.Thr2097Met)
|
rs80358866
|
0.00004
|
NM_000059.4(BRCA2):c.67+19T>C
|
rs587780865
|
0.00004
|
NM_000059.4(BRCA2):c.67+40G>A
|
rs371493518
|
0.00004
|
NM_000059.4(BRCA2):c.7505G>A (p.Arg2502His)
|
rs56070345
|
0.00004
|
NM_000059.4(BRCA2):c.8723T>G (p.Val2908Gly)
|
rs28897753
|
0.00004
|
NM_000059.4(BRCA2):c.9586A>G (p.Lys3196Glu)
|
rs80359228
|
0.00004
|
NM_000071.3(CBS):c.501C>T (p.Ile167=)
|
rs754246295
|
0.00004
|
NM_000088.4(COL1A1):c.1695C>T (p.Pro565=)
|
rs761635519
|
0.00004
|
NM_000088.4(COL1A1):c.1930-5T>C
|
rs762377921
|
0.00004
|
NM_000089.4(COL1A2):c.2481A>C (p.Pro827=)
|
rs142310831
|
0.00004
|
NM_000089.4(COL1A2):c.3268-9C>T
|
rs763122023
|
0.00004
|
NM_000089.4(COL1A2):c.48C>T (p.Thr16=)
|
rs780687409
|
0.00004
|
NM_000093.5(COL5A1):c.219C>T (p.Val73=)
|
rs774691915
|
0.00004
|
NM_000093.5(COL5A1):c.4536C>T (p.Ser1512=)
|
rs367711669
|
0.00004
|
NM_000132.4(F8):c.3376A>T (p.Arg1126Trp)
|
rs199630813
|
0.00004
|
NM_000138.5(FBN1):c.1602T>C (p.Cys534=)
|
rs377386372
|
0.00004
|
NM_000138.5(FBN1):c.2419+13T>A
|
rs372885314
|
0.00004
|
NM_000138.5(FBN1):c.3838+20T>C
|
rs772287702
|
0.00004
|
NM_000138.5(FBN1):c.4336+7G>T
|
rs760603409
|
0.00004
|
NM_000138.5(FBN1):c.7230C>T (p.His2410=)
|
rs193922231
|
0.00004
|
NM_000138.5(FBN1):c.863-36T>C
|
rs181838746
|
0.00004
|
NM_000179.3(MSH6):c.3729A>G (p.Thr1243=)
|
rs773807182
|
0.00004
|
NM_000238.4(KCNH2):c.1471G>A (p.Val491Ile)
|
rs374376640
|
0.00004
|
NM_000243.3(MEFV):c.1587+7G>A
|
rs375555497
|
0.00004
|
NM_000243.3(MEFV):c.948C>T (p.His316=)
|
rs150252937
|
0.00004
|
NM_000251.2(MSH2):c.-102T>C
|
rs17217709
|
0.00004
|
NM_000257.4(MYH7):c.12G>A (p.Ser4=)
|
rs45561941
|
0.00004
|
NM_000258.3(MYL3):c.246G>A (p.Ala82=)
|
rs368364468
|
0.00004
|
NM_000271.5(NPC1):c.181-4A>C
|
rs374571310
|
0.00004
|
NM_000283.4(PDE6B):c.2129+8C>T
|
rs764138476
|
0.00004
|
NM_000289.6(PFKM):c.1063-18G>A
|
rs531023136
|
0.00004
|
NM_000302.4(PLOD1):c.243G>A (p.Leu81=)
|
rs371574381
|
0.00004
|
NM_000335.5(SCN5A):c.3147C>T (p.Ile1049=)
|
rs867787484
|
0.00004
|
NM_000335.5(SCN5A):c.5172G>A (p.Pro1724=)
|
rs372629753
|
0.00004
|
NM_000337.6(SGCD):c.15G>C (p.Glu5Asp)
|
rs549319429
|
0.00004
|
NM_000346.4(SOX9):c.*1217G>A
|
rs1016409707
|
0.00004
|
NM_000365.6(TPI1):c.690C>T (p.Phe230=)
|
rs782267337
|
0.00004
|
NM_000368.5(TSC1):c.1974C>T (p.Asp658=)
|
rs118203608
|
0.00004
|
NM_000368.5(TSC1):c.1976C>T (p.Ala659Val)
|
rs118203609
|
0.00004
|
NM_000384.3(APOB):c.2047G>T (p.Ala683Ser)
|
rs761947252
|
0.00004
|
NM_000384.3(APOB):c.3675C>T (p.His1225=)
|
rs765467750
|
0.00004
|
NM_000384.3(APOB):c.4251G>A (p.Thr1417=)
|
rs72653082
|
0.00004
|
NM_000393.5(COL5A2):c.3614T>C (p.Val1205Ala)
|
rs148110552
|
0.00004
|
NM_000393.5(COL5A2):c.851C>T (p.Pro284Leu)
|
rs540573303
|
0.00004
|
NM_000435.3(NOTCH3):c.4875A>C (p.Pro1625=)
|
rs538466132
|
0.00004
|
NM_000535.7(PMS2):c.1197G>A (p.Lys399=)
|
rs757730609
|
0.00004
|
NM_000546.6(TP53):c.993+312C>T
|
rs756952434
|
0.00004
|
NM_000548.5(TSC2):c.5161-20C>T
|
rs200315428
|
0.00004
|
NM_000552.5(VWF):c.8175C>T (p.Asn2725=)
|
rs759147832
|
0.00004
|
NM_000559.2(HBG1):c.16G>A (p.Glu6Lys)
|
rs34427034
|
0.00004
|
NM_000559.3(HBG1):c.377A>C (p.Glu126Ala)
|
rs770330940
|
0.00004
|
NM_000719.7(CACNA1C):c.1065G>A (p.Thr355=)
|
rs757055492
|
0.00004
|
NM_000719.7(CACNA1C):c.1104G>A (p.Val368=)
|
rs377274770
|
0.00004
|
NM_001005242.3(PKP2):c.2121G>A (p.Ser707=)
|
rs139098675
|
0.00004
|
NM_001005361.3(DNM2):c.1837G>A (p.Val613Met)
|
rs748286191
|
0.00004
|
NM_001005361.3(DNM2):c.1893+17C>T
|
rs45585238
|
0.00004
|
NM_001005373.4(LRSAM1):c.619+14G>A
|
rs770398029
|
0.00004
|
NM_001009944.3(PKD1):c.10051-6C>T
|
rs749281950
|
0.00004
|
NM_001009944.3(PKD1):c.7210-20A>T
|
rs745502224
|
0.00004
|
NM_001033855.3(DCLRE1C):c.1800T>C (p.Asp600=)
|
rs199619187
|
0.00004
|
NM_001040108.2(MLH3):c.3675C>T (p.His1225=)
|
rs147335651
|
0.00004
|
NM_001042492.3(NF1):c.6428-3C>T
|
rs374014162
|
0.00004
|
NM_001110556.2(FLNA):c.1429+9G>A
|
rs782226711
|
0.00004
|
NM_001110556.2(FLNA):c.1665G>A (p.Thr555=)
|
rs782376419
|
0.00004
|
NM_001110556.2(FLNA):c.1768G>A (p.Val590Ile)
|
rs782776511
|
0.00004
|
NM_001110556.2(FLNA):c.3036G>A (p.Ser1012=)
|
rs373908435
|
0.00004
|
NM_001110556.2(FLNA):c.5151G>A (p.Pro1717=)
|
rs782646183
|
0.00004
|
NM_001110556.2(FLNA):c.63C>T (p.Val21=)
|
rs782306951
|
0.00004
|
NM_001114753.3(ENG):c.1019C>T (p.Pro340Leu)
|
rs772135786
|
0.00004
|
NM_001127217.3(SMAD9):c.1047C>T (p.Cys349=)
|
rs141357701
|
0.00004
|
NM_001127217.3(SMAD9):c.781+18A>G
|
rs900040342
|
0.00004
|
NM_001134363.3(RBM20):c.99G>C (p.Pro33=)
|
rs921066961
|
0.00004
|
NM_001142864.4(PIEZO1):c.1558-19del
|
rs970891081
|
0.00004
|
NM_001142864.4(PIEZO1):c.4775+9G>A
|
rs758431569
|
0.00004
|
NM_001142864.4(PIEZO1):c.4884C>T (p.Pro1628=)
|
rs975165548
|
0.00004
|
NM_001142864.4(PIEZO1):c.4958G>A (p.Arg1653His)
|
rs992473797
|
0.00004
|
NM_001142864.4(PIEZO1):c.6249C>T (p.Cys2083=)
|
rs372557703
|
0.00004
|
NM_001142864.4(PIEZO1):c.7169G>A (p.Arg2390Gln)
|
rs377011269
|
0.00004
|
NM_001148.6(ANK2):c.10809T>A (p.Ile3603=)
|
rs924379504
|
0.00004
|
NM_001243133.2(NLRP3):c.111C>T (p.Ile37=)
|
rs145314485
|
0.00004
|
NM_001243133.2(NLRP3):c.2835-7T>G
|
rs747303698
|
0.00004
|
NM_001244008.2(KIF1A):c.4744-4G>A
|
rs771679601
|
0.00004
|
NM_001256012.3(MYH10):c.4914T>C (p.Asp1638=)
|
rs778990648
|
0.00004
|
NM_001267550.2(TTN):c.6387C>T (p.Pro2129=)
|
rs140253822
|
0.00004
|
NM_001267550.2(TTN):c.91749C>T (p.Ser30583=)
|
rs886044458
|
0.00004
|
NM_001360016.2(G6PD):c.771-8G>A
|
rs368790003
|
0.00004
|
NM_001365999.1(SZT2):c.1272A>G (p.Gln424=)
|
rs780157180
|
0.00004
|
NM_001375808.2(LPIN2):c.1122A>G (p.Ser374=)
|
rs748347465
|
0.00004
|
NM_001375808.2(LPIN2):c.1281C>T (p.Pro427=)
|
rs778559792
|
0.00004
|
NM_001375808.2(LPIN2):c.1797G>A (p.Pro599=)
|
rs772568696
|
0.00004
|
NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=)
|
rs374214760
|
0.00004
|
NM_001376013.1(EPB41):c.2184+36G>A
|
rs760095510
|
0.00004
|
NM_001382430.1(AKT1):c.1194C>T (p.Asp398=)
|
rs151254374
|
0.00004
|
NM_001386125.1(OBSCN):c.9499A>G (p.Ile3167Val)
|
rs764679750
|
0.00004
|
NM_001844.5(COL2A1):c.2490C>T (p.Pro830=)
|
rs772029902
|
0.00004
|
NM_001844.5(COL2A1):c.3150C>T (p.Gly1050=)
|
rs376722458
|
0.00004
|
NM_002180.3(IGHMBP2):c.222C>T (p.Ser74=)
|
rs139237340
|
0.00004
|
NM_002474.3(MYH11):c.1575+7G>A
|
rs754750176
|
0.00004
|
NM_002474.3(MYH11):c.5379G>A (p.Gln1793=)
|
rs375230260
|
0.00004
|
NM_002485.5(NBN):c.278C>T (p.Ser93Leu)
|
rs12721593
|
0.00004
|
NM_002506.3(NGF):c.321C>T (p.Val107=)
|
rs202005277
|
0.00004
|
NM_002524.5(NRAS):c.291-8G>A
|
rs376187980
|
0.00004
|
NM_002529.4(NTRK1):c.1252-6C>G
|
rs776728101
|
0.00004
|
NM_002769.5(PRSS1):c.291C>G (p.Pro97=)
|
rs200763933
|
0.00004
|
NM_002880.4(RAF1):c.1194-16C>T
|
rs754344039
|
0.00004
|
NM_002890.3(RASA1):c.2337C>T (p.Ser779=)
|
rs758662266
|
0.00004
|
NM_002907.4(RECQL):c.135A>G (p.Lys45=)
|
rs760544315
|
0.00004
|
NM_002972.4(SBF1):c.2982C>T (p.Ala994=)
|
rs571868041
|
0.00004
|
NM_003036.4(SKI):c.726C>T (p.Ala242=)
|
rs139227600
|
0.00004
|
NM_003072.5(SMARCA4):c.3201C>T (p.Gly1067=)
|
rs763916022
|
0.00004
|
NM_003242.6(TGFBR2):c.617C>T (p.Thr206Met)
|
rs150022335
|
0.00004
|
NM_003319.4(TTN):c.37778-4C>G
|
rs369934310
|
0.00004
|
NM_003482.4(KMT2D):c.8304C>T (p.Ser2768=)
|
rs369611929
|
0.00004
|
NM_003978.5(PSTPIP1):c.-120G>A
|
rs759583926
|
0.00004
|
NM_003978.5(PSTPIP1):c.687C>T (p.Asn229=)
|
rs542286074
|
0.00004
|
NM_004004.6(GJB2):c.78C>T (p.Thr26=)
|
rs201848820
|
0.00004
|
NM_004006.3(DMD):c.1848C>A (p.Ser616=)
|
rs376024929
|
0.00004
|
NM_004082.5(DCTN1):c.2952C>G (p.Ala984=)
|
rs371241720
|
0.00004
|
NM_004239.4(TRIP11):c.4159G>A (p.Glu1387Lys)
|
rs201607866
|
0.00004
|
NM_004333.6(BRAF):c.915G>A (p.Ala305=)
|
rs145675911
|
0.00004
|
NM_004360.5(CDH1):c.84C>T (p.Cys28=)
|
rs587780789
|
0.00004
|
NM_004444.5(EPHB4):c.2485-11C>T
|
rs762090376
|
0.00004
|
NM_004655.4(AXIN2):c.2004G>A (p.Gly668=)
|
rs144092307
|
0.00004
|
NM_005359.6(SMAD4):c.1218G>A (p.Ala406=)
|
rs145097078
|
0.00004
|
NM_005529.7(HSPG2):c.1508-19C>T
|
rs556696218
|
0.00004
|
NM_005529.7(HSPG2):c.7738-8T>C
|
rs753647916
|
0.00004
|
NM_005609.4(PYGM):c.1353C>T (p.His451=)
|
rs377599118
|
0.00004
|
NM_005633.4(SOS1):c.2156G>C (p.Gly719Ala)
|
rs200794965
|
0.00004
|
NM_005902.4(SMAD3):c.1125C>T (p.Ser375=)
|
rs144245324
|
0.00004
|
NM_006005.3(WFS1):c.1743C>T (p.Gly581=)
|
rs377539343
|
0.00004
|
NM_006129.5(BMP1):c.2166C>T (p.Phe722=)
|
rs149426277
|
0.00004
|
NM_006182.4(DDR2):c.444T>C (p.Tyr148=)
|
rs774706415
|
0.00004
|
NM_006258.4(PRKG1):c.2049T>C (p.Asp683=)
|
rs771700923
|
0.00004
|
NM_006343.3(MERTK):c.339T>C (p.Phe113=)
|
rs1419559740
|
0.00004
|
NM_006445.4(PRPF8):c.6108A>G (p.Gln2036=)
|
rs373131838
|
0.00004
|
NM_007272.3(CTRC):c.493+3G>A
|
rs772436044
|
0.00004
|
NM_007294.4(BRCA1):c.1470A>G (p.Pro490=)
|
rs775032066
|
0.00004
|
NM_007294.4(BRCA1):c.2669G>T (p.Gly890Val)
|
rs80356874
|
0.00004
|
NM_007294.4(BRCA1):c.2884G>A (p.Glu962Lys)
|
rs80356955
|
0.00004
|
NM_007294.4(BRCA1):c.4036G>A (p.Glu1346Lys)
|
rs80357407
|
0.00004
|
NM_007294.4(BRCA1):c.425C>A (p.Pro142His)
|
rs55971303
|
0.00004
|
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys)
|
rs80356991
|
0.00004
|
NM_007294.4(BRCA1):c.4729T>C (p.Ser1577Pro)
|
rs80356909
|
0.00004
|
NM_007294.4(BRCA1):c.5157G>T (p.Val1719=)
|
rs28897697
|
0.00004
|
NM_007294.4(BRCA1):c.570C>T (p.Thr190=)
|
rs201536070
|
0.00004
|
NM_014236.4(GNPAT):c.1482A>G (p.Leu494=)
|
rs894887033
|
0.00004
|
NM_014391.3(ANKRD1):c.496T>C (p.Leu166=)
|
rs550582183
|
0.00004
|
NM_015046.7(SETX):c.1140T>G (p.Pro380=)
|
rs140553290
|
0.00004
|
NM_015915.5(ATL1):c.1551+41T>C
|
rs756151411
|
0.00004
|
NM_017617.5(NOTCH1):c.4587-6C>T
|
rs368601709
|
0.00004
|
NM_017617.5(NOTCH1):c.5715C>T (p.Asp1905=)
|
rs748200129
|
0.00004
|
NM_017617.5(NOTCH1):c.6120T>C (p.Asn2040=)
|
rs201625763
|
0.00004
|
NM_017617.5(NOTCH1):c.6573G>A (p.Leu2191=)
|
rs758591166
|
0.00004
|
NM_017668.3(NDE1):c.*631A>G
|
rs373371913
|
0.00004
|
NM_018706.7(DHTKD1):c.876C>T (p.Ala292=)
|
rs556079764
|
0.00004
|
NM_021625.5(TRPV4):c.1899C>T (p.Val633=)
|
rs753027239
|
0.00004
|
NM_021939.4(FKBP10):c.942T>C (p.Asn314=)
|
rs376553350
|
0.00004
|
NM_022114.4(PRDM16):c.777G>A (p.Ala259=)
|
rs557978089
|
0.00004
|
NM_022356.4(P3H1):c.2190G>A (p.Ser730=)
|
rs537555305
|
0.00004
|
NM_022356.4(P3H1):c.809-5T>C
|
rs781474350
|
0.00004
|
NM_022489.4(INF2):c.2043G>A (p.Glu681=)
|
rs776591878
|
0.00004
|
NM_024120.5(NDUFAF5):c.237C>T (p.Ile79=)
|
rs777081419
|
0.00004
|
NM_024577.4(SH3TC2):c.1623G>A (p.Lys541=)
|
rs372749343
|
0.00004
|
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val)
|
rs537258442
|
0.00004
|
NM_025132.4(WDR19):c.2577G>A (p.Ala859=)
|
rs753596825
|
0.00004
|
NM_025132.4(WDR19):c.2742T>C (p.Ala914=)
|
rs753812144
|
0.00004
|
NM_032043.3(BRIP1):c.1626C>T (p.Ser542=)
|
rs373709958
|
0.00004
|
NM_032043.3(BRIP1):c.69G>A (p.Pro23=)
|
rs45458996
|
0.00004
|
NM_033360.4(KRAS):c.112-10C>T
|
rs760989619
|
0.00004
|
NM_080680.3(COL11A2):c.3974C>T (p.Ser1325Leu)
|
rs543145528
|
0.00004
|
NM_138477.4(CDAN1):c.2577G>A (p.Pro859=)
|
rs368274213
|
0.00004
|
NM_138477.4(CDAN1):c.3046G>A (p.Ala1016Thr)
|
rs369116219
|
0.00004
|
NM_201253.3(CRB1):c.1014C>A (p.Ile338=)
|
rs771549675
|
0.00004
|
NM_203486.3(DLL3):c.409+19G>T
|
rs201227250
|
0.00004
|
NM_203486.3(DLL3):c.984C>T (p.Val328=)
|
rs138378695
|
0.00004
|
NC_000014.9:g.105854900G>T
|
rs373184157
|
0.00003
|
NM_000018.4(ACADVL):c.1532+11G>A
|
rs372900326
|
0.00003
|
NM_000020.3(ACVRL1):c.1377+785G>A
|
rs568206326
|
0.00003
|
NM_000037.4(ANK1):c.1305+21G>A
|
rs1432243965
|
0.00003
|
NM_000051.4(ATM):c.1332C>A (p.Pro444=)
|
rs763361384
|
0.00003
|
NM_000051.4(ATM):c.9006C>T (p.Phe3002=)
|
rs540172506
|
0.00003
|
NM_000053.4(ATP7B):c.2127C>T (p.Leu709=)
|
rs780843377
|
0.00003
|
NM_000059.4(BRCA2):c.3225T>C (p.Ser1075=)
|
rs779228375
|
0.00003
|
NM_000059.4(BRCA2):c.7977-23T>C
|
rs113433416
|
0.00003
|
NM_000059.4(BRCA2):c.8010G>A (p.Ser2670=)
|
rs146430937
|
0.00003
|
NM_000059.4(BRCA2):c.9253A>C (p.Thr3085Pro)
|
rs397507423
|
0.00003
|
NM_000071.3(CBS):c.317-22G>A
|
rs200724824
|
0.00003
|
NM_000089.4(COL1A2):c.694-15T>C
|
rs779799840
|
0.00003
|
NM_000093.5(COL5A1):c.2182G>A (p.Ala728Thr)
|
rs575535171
|
0.00003
|
NM_000093.5(COL5A1):c.3564C>A (p.Ile1188=)
|
rs766961124
|
0.00003
|
NM_000093.5(COL5A1):c.3912C>T (p.Pro1304=)
|
rs773909152
|
0.00003
|
NM_000093.5(COL5A1):c.735C>T (p.Asp245=)
|
rs746769184
|
0.00003
|
NM_000095.3(COMP):c.2087+11C>T
|
rs763334255
|
0.00003
|
NM_000133.4(F9):c.177C>A (p.Asn59Lys)
|
rs139089559
|
0.00003
|
NM_000138.5(FBN1):c.4719T>C (p.Pro1573=)
|
rs761947423
|
0.00003
|
NM_000138.5(FBN1):c.7842T>G (p.Ala2614=)
|
rs764496589
|
0.00003
|
NM_000141.5(FGFR2):c.1440-14A>G
|
rs1053077541
|
0.00003
|
NM_000188.3(HK1):c.1545C>T (p.Phe515=)
|
rs61751207
|
0.00003
|
NM_000218.3(KCNQ1):c.501C>T (p.Phe167=)
|
rs774085613
|
0.00003
|
NM_000243.3(MEFV):c.1803T>A (p.Ile601=)
|
rs779572391
|
0.00003
|
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg)
|
rs587779965
|
0.00003
|
NM_000256.3(MYBPC3):c.2211G>A (p.Thr737=)
|
rs113265977
|
0.00003
|
NM_000260.4(MYO7A):c.2970C>T (p.Asp990=)
|
rs782703928
|
0.00003
|
NM_000260.4(MYO7A):c.690G>A (p.Ala230=)
|
rs368358972
|
0.00003
|
NM_000264.5(PTCH1):c.655-12T>C
|
rs376472172
|
0.00003
|
NM_000298.6(PKLR):c.694+42G>C
|
rs781481607
|
0.00003
|
NM_000302.4(PLOD1):c.303-10C>T
|
rs750987724
|
0.00003
|
NM_000302.4(PLOD1):c.813C>T (p.Asp271=)
|
rs373471550
|
0.00003
|
NM_000314.8(PTEN):c.-246C>T
|
rs886047393
|
0.00003
|
NM_000314.8(PTEN):c.855A>G (p.Glu285=)
|
rs751888926
|
0.00003
|
NM_000335.5(SCN5A):c.1188C>T (p.Val396=)
|
rs749683415
|
0.00003
|
NM_000368.5(TSC1):c.3129C>T (p.Ser1043=)
|
rs201192125
|
0.00003
|
NM_000393.5(COL5A2):c.399G>A (p.Pro133=)
|
rs369867930
|
0.00003
|
NM_000435.3(NOTCH3):c.2589G>A (p.Ser863=)
|
rs530503488
|
0.00003
|
NM_000478.6(ALPL):c.863-15T>C
|
rs373980626
|
0.00003
|
NM_000492.4(CFTR):c.1086T>C (p.Tyr362=)
|
rs397508155
|
0.00003
|
NM_000492.4(CFTR):c.3177A>G (p.Leu1059=)
|
rs1800113
|
0.00003
|
NM_000492.4(CFTR):c.4182T>C (p.Asp1394=)
|
rs763937782
|
0.00003
|
NM_000517.6(HBA2):c.95+21C>G
|
rs563472142
|
0.00003
|
NM_000518.5(HBB):c.-31C>T
|
rs63750628
|
0.00003
|
NM_000518.5(HBB):c.316-28G>A
|
rs771736852
|
0.00003
|
NM_000527.5(LDLR):c.1692T>C (p.Asn564=)
|
rs528405760
|
0.00003
|
NM_000548.5(TSC2):c.3663G>A (p.Ser1221=)
|
rs137854268
|
0.00003
|
NM_000552.5(VWF):c.3747T>C (p.Asp1249=)
|
rs200893595
|
0.00003
|
NM_000942.5(PPIB):c.135+14C>T
|
rs779741523
|
0.00003
|
NM_001003800.2(BICD2):c.165C>T (p.His55=)
|
rs150915279
|
0.00003
|
NM_001003800.2(BICD2):c.1725C>G (p.Pro575=)
|
rs201343832
|
0.00003
|
NM_001009944.3(PKD1):c.2986-14G>A
|
rs376382731
|
0.00003
|
NM_001009944.3(PKD1):c.3168C>T (p.Thr1056=)
|
rs770188395
|
0.00003
|
NM_001009944.3(PKD1):c.4338C>T (p.Thr1446=)
|
rs781761438
|
0.00003
|
NM_001009944.3(PKD1):c.7851C>T (p.Thr2617=)
|
rs754620450
|
0.00003
|
NM_001013703.4(EIF2AK4):c.3705G>A (p.Leu1235=)
|
rs367722329
|
0.00003
|
NM_001018005.2(TPM1):c.564-12C>T
|
rs113591254
|
0.00003
|
NM_001042492.3(NF1):c.1296G>A (p.Val432=)
|
rs371599283
|
0.00003
|
NM_001042492.3(NF1):c.6643-19A>G
|
rs544476647
|
0.00003
|
NM_001042492.3(NF1):c.7910G>A (p.Arg2637Gln)
|
rs560262404
|
0.00003
|
NM_001048174.2(MUTYH):c.900C>T (p.Asp300=)
|
rs587780752
|
0.00003
|
NM_001110556.2(FLNA):c.4344G>A (p.Ala1448=)
|
rs782529594
|
0.00003
|
NM_001110556.2(FLNA):c.4594C>T (p.Arg1532Trp)
|
rs782563345
|
0.00003
|
NM_001110556.2(FLNA):c.6363C>T (p.Ala2121=)
|
rs782107005
|
0.00003
|
NM_001110556.2(FLNA):c.7353C>T (p.Val2451=)
|
rs1057521797
|
0.00003
|
NM_001110556.2(FLNA):c.759C>T (p.Asp253=)
|
rs782701643
|
0.00003
|
NM_001114753.3(ENG):c.1428+127G>A
|
rs761685402
|
0.00003
|
NM_001114753.3(ENG):c.524-13C>T
|
rs756926952
|
0.00003
|
NM_001127671.2(LIFR):c.2670+6C>G
|
rs898718526
|
0.00003
|
NM_001130823.3(DNMT1):c.4746C>T (p.Phe1582=)
|
rs780641040
|
0.00003
|
NM_001142864.4(PIEZO1):c.1207C>T (p.Arg403Trp)
|
rs536446748
|
0.00003
|
NM_001142864.4(PIEZO1):c.4234+18G>A
|
rs778887008
|
0.00003
|
NM_001184.4(ATR):c.5889C>T (p.Leu1963=)
|
rs1032716786
|
0.00003
|
NM_001199397.3(NEK1):c.426A>G (p.Val142=)
|
rs200769726
|
0.00003
|
NM_001244008.2(KIF1A):c.4176C>T (p.Phe1392=)
|
rs754203456
|
0.00003
|
NM_001267550.2(TTN):c.39463+18T>G
|
rs550378650
|
0.00003
|
NM_001267550.2(TTN):c.44367C>T (p.Tyr14789=)
|
rs750270873
|
0.00003
|
NM_001267550.2(TTN):c.53100T>G (p.Pro17700=)
|
rs373140387
|
0.00003
|
NM_001353214.3(DYM):c.1912-15C>T
|
rs764087116
|
0.00003
|
NM_001355436.2(SPTB):c.5279C>T (p.Ala1760Val)
|
rs778913256
|
0.00003
|
NM_001355436.2(SPTB):c.5810C>G (p.Ser1937Cys)
|
rs764560431
|
0.00003
|
NM_001370466.1(NOD2):c.2658C>T (p.Asp886=)
|
rs104895451
|
0.00003
|
NM_001375808.2(LPIN2):c.2316C>T (p.Ser772=)
|
rs145270447
|
0.00003
|
NM_001376.5(DYNC1H1):c.10548C>T (p.Tyr3516=)
|
rs760532492
|
0.00003
|
NM_001379610.1(SPINK1):c.*27G>T
|
rs368871387
|
0.00003
|
NM_001386125.1(OBSCN):c.17133G>A (p.Thr5711=)
|
rs372921390
|
0.00003
|
NM_001844.5(COL2A1):c.2410-7C>T
|
rs767041085
|
0.00003
|
NM_001854.4(COL11A1):c.4176C>A (p.Thr1392=)
|
rs750903509
|
0.00003
|
NM_001999.4(FBN2):c.195G>A (p.Glu65=)
|
rs750055830
|
0.00003
|
NM_001999.4(FBN2):c.3279C>T (p.Ile1093=)
|
rs142809999
|
0.00003
|
NM_001999.4(FBN2):c.5814C>T (p.Cys1938=)
|
rs753556200
|
0.00003
|
NM_002246.3(KCNK3):c.1097C>T (p.Ala366Val)
|
rs773773071
|
0.00003
|
NM_002471.4(MYH6):c.4140C>T (p.Asp1380=)
|
rs199672166
|
0.00003
|
NM_002471.4(MYH6):c.636G>A (p.Ala212=)
|
rs111265123
|
0.00003
|
NM_002474.3(MYH11):c.5187C>T (p.Asp1729=)
|
rs145101141
|
0.00003
|
NM_002474.3(MYH11):c.5696A>G (p.Asn1899Ser)
|
rs79129097
|
0.00003
|
NM_002661.5(PLCG2):c.2121C>T (p.Ser707=)
|
rs527809751
|
0.00003
|
NM_002661.5(PLCG2):c.3657A>T (p.Thr1219=)
|
rs201318091
|
0.00003
|
NM_002691.4(POLD1):c.1362C>T (p.Arg454=)
|
rs773075581
|
0.00003
|
NM_002838.5(PTPRC):c.1818G>A (p.Lys606=)
|
rs575318196
|
0.00003
|
NM_002972.4(SBF1):c.219C>T (p.Ile73=)
|
rs750211528
|
0.00003
|
NM_003060.4(SLC22A5):c.523G>A (p.Val175Met)
|
rs781721860
|
0.00003
|
NM_003242.6(TGFBR2):c.1680C>T (p.Asp560=)
|
rs376815143
|
0.00003
|
NM_003482.4(KMT2D):c.16197G>A (p.Val5399=)
|
rs776542344
|
0.00003
|
NM_003482.4(KMT2D):c.7035G>A (p.Leu2345=)
|
rs398123756
|
0.00003
|
NM_003640.5(ELP1):c.2082T>A (p.Gly694=)
|
rs760054484
|
0.00003
|
NM_003978.5(PSTPIP1):c.864C>T (p.Tyr288=)
|
rs763986763
|
0.00003
|
NM_004004.6(GJB2):c.258G>A (p.Thr86=)
|
rs139362103
|
0.00003
|
NM_004006.3(DMD):c.4373T>A (p.Phe1458Tyr)
|
rs777274879
|
0.00003
|
NM_004006.3(DMD):c.4684A>G (p.Arg1562Gly)
|
rs771425504
|
0.00003
|
NM_004239.4(TRIP11):c.1587C>T (p.Ile529=)
|
rs762961289
|
0.00003
|
NM_004415.4(DSP):c.3231G>A (p.Ala1077=)
|
rs368214030
|
0.00003
|
NM_004612.4(TGFBR1):c.-4G>A
|
rs1007933061
|
0.00003
|
NM_004984.4(KIF5A):c.1167G>A (p.Leu389=)
|
rs758700375
|
0.00003
|
NM_004990.4(MARS1):c.1479C>A (p.Arg493=)
|
rs148191586
|
0.00003
|
NM_005188.4(CBL):c.1920G>A (p.Thr640=)
|
rs202158626
|
0.00003
|
NM_005529.7(HSPG2):c.606C>T (p.Ala202=)
|
rs189811325
|
0.00003
|
NM_005591.4(MRE11):c.846-12T>C
|
rs587780145
|
0.00003
|
NM_006031.6(PCNT):c.6458A>G (p.Asn2153Ser)
|
rs758705082
|
0.00003
|
NM_007078.3(LDB3):c.1962G>A (p.Glu654=)
|
rs201063130
|
0.00003
|
NM_007272.3(CTRC):c.356+7G>C
|
rs773334021
|
0.00003
|
NM_007294.4(BRCA1):c.212+21G>A
|
rs80358147
|
0.00003
|
NM_007294.4(BRCA1):c.4096+30C>T
|
rs369055904
|
0.00003
|
NM_007294.4(BRCA1):c.4185+10G>C
|
rs80358104
|
0.00003
|
NM_007294.4(BRCA1):c.5152+15A>G
|
rs750905289
|
0.00003
|
NM_014249.4(NR2E3):c.768G>A (p.Ala256=)
|
rs1448837236
|
0.00003
|
NM_014365.3(HSPB8):c.534A>G (p.Gly178=)
|
rs756610498
|
0.00003
|
NM_016169.4(SUFU):c.666G>T (p.Leu222=)
|
rs142383792
|
0.00003
|
NM_017617.5(NOTCH1):c.3510+3G>A
|
rs372739350
|
0.00003
|
NM_017780.4(CHD7):c.8610G>A (p.Ala2870=)
|
rs375459176
|
0.00003
|
NM_020631.6(PLEKHG5):c.813G>A (p.Glu271=)
|
rs777414805
|
0.00003
|
NM_021625.5(TRPV4):c.1827T>A (p.Ile609=)
|
rs757493897
|
0.00003
|
NM_022356.4(P3H1):c.2055+48G>A
|
rs773921230
|
0.00003
|
NM_022489.4(INF2):c.2311-4C>G
|
rs371953149
|
0.00003
|
NM_022489.4(INF2):c.2418+19G>A
|
rs770701500
|
0.00003
|
NM_024334.3(TMEM43):c.96C>T (p.Thr32=)
|
rs1021721320
|
0.00003
|
NM_031443.4(CCM2):c.48A>T (p.Pro16=)
|
rs142320735
|
0.00003
|
NM_032601.4(MCEE):c.178A>C (p.Lys60Gln)
|
rs147401037
|
0.00003
|
NM_053025.4(MYLK):c.3048T>C (p.Asn1016=)
|
rs758822048
|
0.00003
|
NM_053025.4(MYLK):c.4104C>T (p.Ile1368=)
|
rs376676607
|
0.00003
|
NM_053025.4(MYLK):c.609G>A (p.Pro203=)
|
rs748312013
|
0.00003
|
NM_138477.4(CDAN1):c.3261C>G (p.Ser1087=)
|
rs371567068
|
0.00003
|
NM_139125.4(MASP1):c.1530A>C (p.Pro510=)
|
rs200791230
|
0.00003
|
NM_147127.5(EVC2):c.885C>T (p.His295=)
|
rs752378780
|
0.00003
|
NM_152594.3(SPRED1):c.306G>A (p.Thr102=)
|
rs372791883
|
0.00003
|
NM_170707.4(LMNA):c.1381-13A>G
|
rs750192865
|
0.00003
|
NM_170707.4(LMNA):c.885G>A (p.Ser295=)
|
rs776999079
|
0.00003
|
NM_172250.3(MMAA):c.970-5G>A
|
rs370814663
|
0.00003
|
NM_182925.5(FLT4):c.2407-18C>T
|
rs1474651988
|
0.00003
|
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala)
|
rs372081834
|
0.00003
|
NM_000020.3(ACVRL1):c.1378-417C>T
|
rs1038380207
|
0.00002
|
NM_000037.4(ANK1):c.2352C>T (p.Asp784=)
|
rs751238125
|
0.00002
|
NM_000038.6(APC):c.729+15T>C
|
rs746211944
|
0.00002
|
NM_000051.4(ATM):c.2085G>A (p.Leu695=)
|
rs786202229
|
0.00002
|
NM_000053.4(ATP7B):c.396C>T (p.Ser132=)
|
rs377081763
|
0.00002
|
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg)
|
rs28897709
|
0.00002
|
NM_000059.4(BRCA2):c.183A>G (p.Leu61=)
|
rs776638534
|
0.00002
|
NM_000059.4(BRCA2):c.2256C>T (p.Asp752=)
|
rs766384913
|
0.00002
|
NM_000059.4(BRCA2):c.2484T>C (p.Tyr828=)
|
rs45619134
|
0.00002
|
NM_000059.4(BRCA2):c.3916G>A (p.Val1306Ile)
|
rs80358636
|
0.00002
|
NM_000059.4(BRCA2):c.5474C>T (p.Ala1825Val)
|
rs397507352
|
0.00002
|
NM_000059.4(BRCA2):c.631+26A>T
|
rs763209547
|
0.00002
|
NM_000059.4(BRCA2):c.708T>C (p.His236=)
|
rs185506536
|
0.00002
|
NM_000088.4(COL1A1):c.1299C>T (p.Ser433=)
|
rs776229611
|
0.00002
|
NM_000088.4(COL1A1):c.1515+6C>T
|
rs369422507
|
0.00002
|
NM_000090.4(COL3A1):c.1860A>T (p.Pro620=)
|
rs141128796
|
0.00002
|
NM_000090.4(COL3A1):c.3069C>A (p.Gly1023=)
|
rs778417073
|
0.00002
|
NM_000093.5(COL5A1):c.4794C>T (p.Gly1598=)
|
rs863223481
|
0.00002
|
NM_000093.5(COL5A1):c.57G>A (p.Leu19=)
|
rs761259908
|
0.00002
|
NM_000095.3(COMP):c.975+10C>T
|
rs1451106951
|
0.00002
|
NM_000138.5(FBN1):c.2154G>A (p.Thr718=)
|
rs377033515
|
0.00002
|
NM_000138.5(FBN1):c.4488G>A (p.Thr1496=)
|
rs370494288
|
0.00002
|
NM_000138.5(FBN1):c.6387C>T (p.Asp2129=)
|
rs147342485
|
0.00002
|
NM_000138.5(FBN1):c.6872-12A>G
|
rs568325297
|
0.00002
|
NM_000142.5(FGFR3):c.2169-4G>A
|
rs758292253
|
0.00002
|
NM_000143.4(FH):c.904+13G>A
|
rs572806212
|
0.00002
|
NM_000179.3(MSH6):c.354A>G (p.Thr118=)
|
rs558590898
|
0.00002
|
NM_000218.3(KCNQ1):c.1386C>T (p.Asp462=)
|
rs749631604
|
0.00002
|
NM_000238.4(KCNH2):c.76+18C>T
|
rs749396597
|
0.00002
|
NM_000243.3(MEFV):c.1611-33G>A
|
rs557544409
|
0.00002
|
NM_000249.4(MLH1):c.1872C>T (p.Asp624=)
|
rs145535636
|
0.00002
|
NM_000249.4(MLH1):c.303T>G (p.Gly101=)
|
rs4647220
|
0.00002
|
NM_000302.4(PLOD1):c.1023C>T (p.Gly341=)
|
rs755056846
|
0.00002
|
NM_000302.4(PLOD1):c.882C>T (p.Ile294=)
|
rs747668784
|
0.00002
|
NM_000335.5(SCN5A):c.2976C>T (p.Pro992=)
|
rs193922725
|
0.00002
|
NM_000335.5(SCN5A):c.453C>T (p.His151=)
|
rs199996750
|
0.00002
|
NM_000365.6(TPI1):c.543+5C>G
|
rs782153322
|
0.00002
|
NM_000368.5(TSC1):c.3237C>T (p.Gly1079=)
|
rs749995749
|
0.00002
|
NM_000393.5(COL5A2):c.906+10A>T
|
rs776578452
|
0.00002
|
NM_000435.3(NOTCH3):c.267C>T (p.Gly89=)
|
rs780210842
|
0.00002
|
NM_000459.5(TEK):c.1789T>C (p.Leu597=)
|
rs755053781
|
0.00002
|
NM_000459.5(TEK):c.1909+18C>G
|
rs41303213
|
0.00002
|
NM_000459.5(TEK):c.858G>T (p.Gly286=)
|
rs747484849
|
0.00002
|
NM_000478.6(ALPL):c.1470C>T (p.Ile490=)
|
rs771120248
|
0.00002
|
NM_000492.4(CFTR):c.2262G>C (p.Val754=)
|
rs1201012182
|
0.00002
|
NM_000492.4(CFTR):c.3789T>C (p.Thr1263=)
|
rs200921635
|
0.00002
|
NM_000517.6(HBA2):c.*103G>A
|
rs1363099908
|
0.00002
|
NM_000517.6(HBA2):c.64G>C (p.Ala22Pro)
|
rs281864817
|
0.00002
|
NM_000518.5(HBB):c.170G>A (p.Gly57Asp)
|
rs34439278
|
0.00002
|
NM_000518.5(HBB):c.262A>C (p.Thr88Pro)
|
rs35553496
|
0.00002
|
NM_000518.5(HBB):c.359G>A (p.Gly120Asp)
|
rs33947020
|
0.00002
|
NM_000518.5(HBB):c.93-40C>T
|
rs556727592
|
0.00002
|
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met)
|
rs567102013
|
0.00002
|
NM_000535.7(PMS2):c.1680T>C (p.Cys560=)
|
rs752143026
|
0.00002
|
NM_000546.6(TP53):c.249G>A (p.Ala83=)
|
rs55754907
|
0.00002
|
NM_001005242.3(PKP2):c.1379-2071G>A
|
rs776244945
|
0.00002
|
NM_001009944.3(PKD1):c.12486C>A (p.Pro4162=)
|
rs759210811
|
0.00002
|
NM_001009944.3(PKD1):c.7703+12C>T
|
rs542748732
|
0.00002
|
NM_001110556.2(FLNA):c.2953G>A (p.Val985Ile)
|
rs781884864
|
0.00002
|
NM_001110556.2(FLNA):c.4368C>T (p.Pro1456=)
|
rs782080545
|
0.00002
|
NM_001110556.2(FLNA):c.5271G>A (p.Leu1757=)
|
rs782031542
|
0.00002
|
NM_001110556.2(FLNA):c.5661C>T (p.Thr1887=)
|
rs782253233
|
0.00002
|
NM_001110556.2(FLNA):c.5694G>A (p.Leu1898=)
|
rs782618942
|
0.00002
|
NM_001110556.2(FLNA):c.6915C>T (p.Tyr2305=)
|
rs781910090
|
0.00002
|
NM_001110556.2(FLNA):c.7089G>A (p.Ala2363=)
|
rs781843787
|
0.00002
|
NM_001130823.3(DNMT1):c.1935T>C (p.Asp645=)
|
rs749498068
|
0.00002
|
NM_001142864.4(PIEZO1):c.150C>T (p.Cys50=)
|
rs934325198
|
0.00002
|
NM_001142864.4(PIEZO1):c.219C>G (p.Ala73=)
|
rs895722966
|
0.00002
|
NM_001148.6(ANK2):c.2900+5125C>G
|
rs779697542
|
0.00002
|
NM_001244008.2(KIF1A):c.1577+7G>A
|
rs781749303
|
0.00002
|
NM_001267550.2(TTN):c.52449C>T (p.Thr17483=)
|
rs374894182
|
0.00002
|
NM_001277115.2(DNAH11):c.495+18A>G
|
rs779666043
|
0.00002
|
NM_001291415.2(KDM6A):c.4255G>A (p.Gly1419Arg)
|
rs370298215
|
0.00002
|
NM_001291867.2(NHS):c.249G>T (p.Pro83=)
|
rs1240476811
|
0.00002
|
NM_001355436.2(SPTB):c.3747G>A (p.Val1249=)
|
rs769686954
|
0.00002
|
NM_001365088.1(SLC12A6):c.1825-16T>C
|
rs763005505
|
0.00002
|
NM_001365088.1(SLC12A6):c.1998A>G (p.Leu666=)
|
rs761707485
|
0.00002
|
NM_001369.3(DNAH5):c.11455+7T>G
|
rs774101738
|
0.00002
|
NM_001370259.2(MEN1):c.1695G>T (p.Leu565=)
|
rs767677287
|
0.00002
|
NM_001375808.2(LPIN2):c.1362C>T (p.Ser454=)
|
rs371484024
|
0.00002
|
NM_001377.3(DYNC2H1):c.10998A>G (p.Ala3666=)
|
rs758373368
|
0.00002
|
NM_001377.3(DYNC2H1):c.4127+10A>G
|
rs369188420
|
0.00002
|
NM_001378454.1(ALMS1):c.764+19A>G
|
rs1035974697
|
0.00002
|
NM_001379270.1(CNGA1):c.858A>G (p.Thr286=)
|
rs533594644
|
0.00002
|
NM_001386125.1(OBSCN):c.5647G>A (p.Glu1883Lys)
|
rs371852931
|
0.00002
|
NM_001386795.1(DTNA):c.1994-18T>A
|
rs772589214
|
0.00002
|
NM_001457.4(FLNB):c.246G>C (p.Val82=)
|
rs780155723
|
0.00002
|
NM_001457.4(FLNB):c.2484+19G>A
|
rs765081115
|
0.00002
|
NM_001457.4(FLNB):c.3189C>T (p.Ile1063=)
|
rs769902031
|
0.00002
|
NM_001498.4(GCLC):c.565T>C (p.Leu189=)
|
rs774375409
|
0.00002
|
NM_001927.4(DES):c.897+13G>A
|
rs201433470
|
0.00002
|
NM_001972.4(ELANE):c.108G>A (p.Ala36=)
|
rs886109432
|
0.00002
|
NM_001999.4(FBN2):c.1194C>T (p.Ile398=)
|
rs766004910
|
0.00002
|
NM_001999.4(FBN2):c.4779C>T (p.Cys1593=)
|
rs780191346
|
0.00002
|
NM_001999.4(FBN2):c.533-6A>G
|
rs56400997
|
0.00002
|
NM_002047.4(GARS1):c.1359C>T (p.Tyr453=)
|
rs901778260
|
0.00002
|
NM_002180.3(IGHMBP2):c.1071C>T (p.Ala357=)
|
rs755300047
|
0.00002
|
NM_002180.3(IGHMBP2):c.2862C>T (p.Ser954=)
|
rs377433281
|
0.00002
|
NM_002474.3(MYH11):c.1402-13G>A
|
rs201713082
|
0.00002
|
NM_002474.3(MYH11):c.684C>T (p.Phe228=)
|
rs368292089
|
0.00002
|
NM_002972.4(SBF1):c.1917C>T (p.Asp639=)
|
rs750516504
|
0.00002
|
NM_002972.4(SBF1):c.651G>A (p.Gln217=)
|
rs1292863100
|
0.00002
|
NM_003000.3(SDHB):c.73-11A>C
|
rs927103985
|
0.00002
|
NM_003036.4(SKI):c.2013G>A (p.Gln671=)
|
rs1040803635
|
0.00002
|
NM_003073.5(SMARCB1):c.237C>T (p.His79=)
|
rs200394488
|
0.00002
|
NM_003126.4(SPTA1):c.5834-13T>C
|
rs370452867
|
0.00002
|
NM_003238.6(TGFB2):c.798T>A (p.Thr266=)
|
rs376354795
|
0.00002
|
NM_003476.5(CSRP3):c.282-16C>T
|
rs757074408
|
0.00002
|
NM_003978.5(PSTPIP1):c.838+9C>T
|
rs778120164
|
0.00002
|
NM_004006.3(DMD):c.10677T>C (p.Ile3559=)
|
rs765950547
|
0.00002
|
NM_004006.3(DMD):c.3498A>G (p.Leu1166=)
|
rs767446687
|
0.00002
|
NM_004082.5(DCTN1):c.3699+16G>A
|
rs747490958
|
0.00002
|
NM_004444.5(EPHB4):c.2834+17G>A
|
rs374898029
|
0.00002
|
NM_004984.4(KIF5A):c.1164C>A (p.Ala388=)
|
rs745882021
|
0.00002
|
NM_004984.4(KIF5A):c.510T>G (p.Thr170=)
|
rs369289917
|
0.00002
|
NM_005219.5(DIAPH1):c.3675C>T (p.Ala1225=)
|
rs371385202
|
0.00002
|
NM_005359.6(SMAD4):c.425-17C>T
|
rs767419859
|
0.00002
|
NM_005529.7(HSPG2):c.3732T>C (p.Arg1244=)
|
rs572839851
|
0.00002
|
NM_005529.7(HSPG2):c.5598C>T (p.Pro1866=)
|
rs768493622
|
0.00002
|
NM_005548.3(KARS1):c.1695+4C>T
|
rs747781002
|
0.00002
|
NM_005633.4(SOS1):c.396A>T (p.Ala132=)
|
rs727505385
|
0.00002
|
NM_006031.6(PCNT):c.5994+17G>A
|
rs570628453
|
0.00002
|
NM_006031.6(PCNT):c.7045G>C (p.Ala2349Pro)
|
rs772025323
|
0.00002
|
NM_006031.6(PCNT):c.7167G>A (p.Pro2389=)
|
rs745406750
|
0.00002
|
NM_006231.4(POLE):c.351A>G (p.Ser117=)
|
rs199773841
|
0.00002
|
NM_006258.4(PRKG1):c.841-9T>C
|
rs553608826
|
0.00002
|
NM_006269.2(RP1):c.3504G>A (p.Lys1168=)
|
rs191997072
|
0.00002
|
NM_006371.5(CRTAP):c.1182C>G (p.Leu394=)
|
rs1393973409
|
0.00002
|
NM_006506.5(RASA2):c.1216C>T (p.Leu406=)
|
rs146956359
|
0.00002
|
NM_007272.3(CTRC):c.494-13A>G
|
rs762842599
|
0.00002
|
NM_007294.4(BRCA1):c.3636A>G (p.Ser1212=)
|
rs148038877
|
0.00002
|
NM_007294.4(BRCA1):c.4484+40T>A
|
rs1159005094
|
0.00002
|
NM_007294.4(BRCA1):c.4676-7C>T
|
rs80358005
|
0.00002
|
NM_007294.4(BRCA1):c.5194-34C>T
|
rs760208409
|
0.00002
|
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg)
|
rs80357322
|
0.00002
|
NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala)
|
rs730881018
|
0.00002
|
NM_013314.4(BLNK):c.156C>T (p.Tyr52=)
|
rs782546596
|
0.00002
|
NM_015139.3(SLC35D1):c.660C>G (p.Leu220=)
|
rs1277339639
|
0.00002
|
NM_016203.4(PRKAG2):c.138G>A (p.Pro46=)
|
rs767613486
|
0.00002
|
NM_017617.5(NOTCH1):c.5935-11C>T
|
rs768074148
|
0.00002
|
NM_019844.4(SLCO1B3):c.264A>C (p.Gly88=)
|
rs374616195
|
0.00002
|
NM_020312.4(COQ9):c.362T>C (p.Ile121Thr)
|
rs547254482
|
0.00002
|
NM_020631.6(PLEKHG5):c.2274C>G (p.Thr758=)
|
rs147386989
|
0.00002
|
NM_021629.4(GNB4):c.432G>A (p.Gly144=)
|
rs759607911
|
0.00002
|
NM_032119.4(ADGRV1):c.14157A>G (p.Leu4719=)
|
rs779582048
|
0.00002
|
NM_032409.3(PINK1):c.434C>T (p.Thr145Met)
|
rs45604240
|
0.00002
|
NM_032578.4(MYPN):c.1200A>G (p.Gln400=)
|
rs768030641
|
0.00002
|
NM_053025.4(MYLK):c.2141-19G>T
|
rs530951493
|
0.00002
|
NM_053025.4(MYLK):c.5155C>T (p.Leu1719=)
|
rs1057523680
|
0.00002
|
NM_053025.4(MYLK):c.771T>C (p.Asn257=)
|
rs369494886
|
0.00002
|
NM_133171.5(ELMO2):c.1416+9C>G
|
rs770529533
|
0.00002
|
NM_133379.5(TTN):c.12462T>A (p.Thr4154=)
|
rs1243996325
|
0.00002
|
NM_138477.4(CDAN1):c.2750T>G (p.Ile917Ser)
|
rs529452785
|
0.00002
|
NM_144687.4(NLRP12):c.78G>A (p.Lys26=)
|
rs148263031
|
0.00002
|
NM_170707.4(LMNA):c.1098G>A (p.Lys366=)
|
rs57901307
|
0.00002
|
NM_000018.4(ACADVL):c.1078-23G>A
|
rs372299655
|
0.00001
|
NM_000018.4(ACADVL):c.864C>T (p.Phe288=)
|
rs753748672
|
0.00001
|
NM_000020.3(ACVRL1):c.1378-368T>C
|
rs1940945149
|
0.00001
|
NM_000022.4(ADA):c.312G>A (p.Pro104=)
|
rs765878819
|
0.00001
|
NM_000037.4(ANK1):c.1602+18G>A
|
rs764064612
|
0.00001
|
NM_000037.4(ANK1):c.4023G>A (p.Ser1341=)
|
rs371816885
|
0.00001
|
NM_000037.4(ANK1):c.5598G>A (p.Gly1866=)
|
rs775251229
|
0.00001
|
NM_000038.6(APC):c.5541G>A (p.Thr1847=)
|
rs777449060
|
0.00001
|
NM_000038.6(APC):c.7143A>C (p.Gln2381His)
|
rs756153152
|
0.00001
|
NM_000051.4(ATM):c.2467-7C>T
|
rs768850329
|
0.00001
|
NM_000051.4(ATM):c.3132T>C (p.Asn1044=)
|
rs1430714562
|
0.00001
|
NM_000051.4(ATM):c.372C>A (p.Ile124=)
|
rs773495195
|
0.00001
|
NM_000051.4(ATM):c.4878T>C (p.Asp1626=)
|
rs755687834
|
0.00001
|
NM_000051.4(ATM):c.6700C>T (p.Leu2234=)
|
rs760602228
|
0.00001
|
NM_000053.4(ATP7B):c.1896C>A (p.Ala632=)
|
rs752696791
|
0.00001
|
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=)
|
rs751202110
|
0.00001
|
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=)
|
rs375007352
|
0.00001
|
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala)
|
rs80358393
|
0.00001
|
NM_000059.4(BRCA2):c.1141G>A (p.Asp381Asn)
|
rs398122723
|
0.00001
|
NM_000059.4(BRCA2):c.2082T>C (p.Asn694=)
|
rs777141329
|
0.00001
|
NM_000059.4(BRCA2):c.2364C>T (p.Gly788=)
|
rs773035582
|
0.00001
|
NM_000059.4(BRCA2):c.3672C>T (p.Gly1224=)
|
rs587780650
|
0.00001
|
NM_000059.4(BRCA2):c.3717A>G (p.Lys1239=)
|
rs141196976
|
0.00001
|
NM_000059.4(BRCA2):c.426-24G>C
|
rs1255464376
|
0.00001
|
NM_000059.4(BRCA2):c.4271C>G (p.Ser1424Cys)
|
rs80358664
|
0.00001
|
NM_000059.4(BRCA2):c.4599A>C (p.Lys1533Asn)
|
rs80358694
|
0.00001
|
NM_000059.4(BRCA2):c.5427C>T (p.Cys1809=)
|
rs80359791
|
0.00001
|
NM_000059.4(BRCA2):c.6531T>A (p.Ile2177=)
|
rs587780658
|
0.00001
|
NM_000059.4(BRCA2):c.6675A>G (p.Thr2225=)
|
rs28897741
|
0.00001
|
NM_000059.4(BRCA2):c.7436-4A>G
|
rs81002904
|
0.00001
|
NM_000059.4(BRCA2):c.7617+38A>G
|
rs1555286323
|
0.00001
|
NM_000059.4(BRCA2):c.8331+14C>T
|
rs1287378096
|
0.00001
|
NM_000059.4(BRCA2):c.8352G>T (p.Arg2784=)
|
rs747664806
|
0.00001
|
NM_000059.4(BRCA2):c.8367T>C (p.Tyr2789=)
|
rs201057885
|
0.00001
|
NM_000059.4(BRCA2):c.8488-19G>A
|
rs398122607
|
0.00001
|
NM_000059.4(BRCA2):c.856T>C (p.Ser286Pro)
|
rs80359111
|
0.00001
|
NM_000059.4(BRCA2):c.870C>T (p.Val290=)
|
rs1177514552
|
0.00001
|
NM_000059.4(BRCA2):c.918T>C (p.Asp306=)
|
rs184408918
|
0.00001
|
NM_000059.4(BRCA2):c.927A>G (p.Ser309=)
|
rs80359806
|
0.00001
|
NM_000059.4(BRCA2):c.9972A>G (p.Pro3324=)
|
rs786201647
|
0.00001
|
NM_000061.3(BTK):c.1791A>G (p.Pro597=)
|
rs1340458277
|
0.00001
|
NM_000071.3(CBS):c.666+10C>A
|
rs773040114
|
0.00001
|
NM_000075.4(CDK4):c.632+6G>A
|
rs762362960
|
0.00001
|
NM_000088.4(COL1A1):c.1929+11A>G
|
rs1323161515
|
0.00001
|
NM_000088.4(COL1A1):c.2883C>T (p.Val961=)
|
rs761548060
|
0.00001
|
NM_000088.4(COL1A1):c.3441T>C (p.Ala1147=)
|
rs768896689
|
0.00001
|
NM_000089.4(COL1A2):c.1503+11C>T
|
rs538640615
|
0.00001
|
NM_000089.4(COL1A2):c.1761A>G (p.Pro587=)
|
rs746150563
|
0.00001
|
NM_000089.4(COL1A2):c.280-7T>C
|
rs750868020
|
0.00001
|
NM_000089.4(COL1A2):c.541-19A>G
|
rs750692751
|
0.00001
|
NM_000090.4(COL3A1):c.1581T>C (p.Asp527=)
|
rs890700564
|
0.00001
|
NM_000090.4(COL3A1):c.2766A>G (p.Pro922=)
|
rs915948354
|
0.00001
|
NM_000090.4(COL3A1):c.333+15T>C
|
rs764678861
|
0.00001
|
NM_000090.4(COL3A1):c.3693C>A (p.Thr1231=)
|
rs368556405
|
0.00001
|
NM_000090.4(COL3A1):c.690+9T>C
|
rs370451250
|
0.00001
|
NM_000092.5(COL4A4):c.4081+9C>G
|
rs201688381
|
0.00001
|
NM_000092.5(COL4A4):c.933G>A (p.Gly311=)
|
rs778118362
|
0.00001
|
NM_000093.5(COL5A1):c.2238C>T (p.Pro746=)
|
rs373617798
|
0.00001
|
NM_000093.5(COL5A1):c.243G>A (p.Ala81=)
|
rs540291731
|
0.00001
|
NM_000093.5(COL5A1):c.2646+12C>T
|
rs751662116
|
0.00001
|
NM_000093.5(COL5A1):c.2845-8G>A
|
rs775063630
|
0.00001
|
NM_000093.5(COL5A1):c.4302C>T (p.Pro1434=)
|
rs755495352
|
0.00001
|
NM_000093.5(COL5A1):c.801C>T (p.Asp267=)
|
rs778401280
|
0.00001
|
NM_000112.4(SLC26A2):c.114C>T (p.Asp38=)
|
rs779527254
|
0.00001
|
NM_000121.4(EPOR):c.215T>C (p.Val72Ala)
|
rs780617943
|
0.00001
|
NM_000132.4(F8):c.144-13T>G
|
rs782248521
|
0.00001
|
NM_000138.5(FBN1):c.-28C>T
|
rs780163247
|
0.00001
|
NM_000138.5(FBN1):c.1653C>T (p.Gly551=)
|
rs766565738
|
0.00001
|
NM_000138.5(FBN1):c.1779T>C (p.Ser593=)
|
rs372195702
|
0.00001
|
NM_000138.5(FBN1):c.2253T>C (p.Asn751=)
|
rs1566912218
|
0.00001
|
NM_000138.5(FBN1):c.3255G>A (p.Gln1085=)
|
rs767088495
|
0.00001
|
NM_000138.5(FBN1):c.3337+20A>G
|
rs757193641
|
0.00001
|
NM_000138.5(FBN1):c.4056C>T (p.Pro1352=)
|
rs766969494
|
0.00001
|
NM_000138.5(FBN1):c.4428C>T (p.Tyr1476=)
|
rs767462642
|
0.00001
|
NM_000138.5(FBN1):c.989-10T>C
|
rs774104217
|
0.00001
|
NM_000151.4(G6PC1):c.490C>T (p.Leu164=)
|
rs987462071
|
0.00001
|
NM_000152.5(GAA):c.547-41G>C
|
rs753870549
|
0.00001
|
NM_000155.4(GALT):c.753C>T (p.Tyr251=)
|
rs367543261
|
0.00001
|
NM_000179.3(MSH6):c.1524G>A (p.Val508=)
|
rs878853705
|
0.00001
|
NM_000179.3(MSH6):c.2940A>G (p.Glu980=)
|
rs730881818
|
0.00001
|
NM_000179.3(MSH6):c.3084A>T (p.Ser1028=)
|
rs786201843
|
0.00001
|
NM_000179.3(MSH6):c.81C>G (p.Ala27=)
|
rs781496151
|
0.00001
|
NM_000188.3(HK1):c.2610-5T>C
|
rs772324426
|
0.00001
|
NM_000218.3(KCNQ1):c.1851C>T (p.Leu617=)
|
rs962199389
|
0.00001
|
NM_000238.4(KCNH2):c.473-5C>T
|
rs1181633993
|
0.00001
|
NM_000243.3(MEFV):c.2166G>A (p.Val722=)
|
rs762351424
|
0.00001
|
NM_000243.3(MEFV):c.786T>C (p.Thr262=)
|
rs575521131
|
0.00001
|
NM_000249.4(MLH1):c.2082G>A (p.Glu694=)
|
rs1057521441
|
0.00001
|
NM_000251.3(MSH2):c.1077-15G>T
|
rs753277524
|
0.00001
|
NM_000251.3(MSH2):c.2006-4G>A
|
rs369853630
|
0.00001
|
NM_000251.3(MSH2):c.375T>G (p.Pro125=)
|
rs1427268231
|
0.00001
|
NM_000260.4(MYO7A):c.1455G>A (p.Leu485=)
|
rs375528761
|
0.00001
|
NM_000314.8(PTEN):c.209+97T>C
|
rs1283192594
|
0.00001
|
NM_000316.3(PTH1R):c.424+17G>A
|
rs957491176
|
0.00001
|
NM_000368.5(TSC1):c.1794C>T (p.Ser598=)
|
rs766438395
|
0.00001
|
NM_000371.4(TTR):c.200+20T>C
|
rs2073494875
|
0.00001
|
NM_000371.4(TTR):c.70-16T>C
|
rs759512847
|
0.00001
|
NM_000384.3(APOB):c.3846T>C (p.Asp1282=)
|
rs368284858
|
0.00001
|
NM_000384.3(APOB):c.5490C>T (p.Ala1830=)
|
rs886055585
|
0.00001
|
NM_000393.5(COL5A2):c.1302+9T>C
|
rs1199559237
|
0.00001
|
NM_000393.5(COL5A2):c.691-15T>G
|
rs756189756
|
0.00001
|
NM_000399.5(EGR2):c.1179C>T (p.Thr393=)
|
rs965148587
|
0.00001
|
NM_000431.4(MVK):c.371+9G>A
|
rs551460898
|
0.00001
|
NM_000431.4(MVK):c.519C>T (p.Cys173=)
|
rs554487221
|
0.00001
|
NM_000435.3(NOTCH3):c.1494C>T (p.Gly498=)
|
rs142762020
|
0.00001
|
NM_000435.3(NOTCH3):c.1952-26G>A
|
rs543132032
|
0.00001
|
NM_000435.3(NOTCH3):c.5742C>G (p.Ala1914=)
|
rs1315733874
|
0.00001
|
NM_000451.4(SHOX):c.723C>T (p.Phe241=)
|
rs886042718
|
0.00001
|
NM_000463.3(UGT1A1):c.471C>T (p.Ser157=)
|
rs765894633
|
0.00001
|
NM_000492.4(CFTR):c.-16C>T
|
rs769128872
|
0.00001
|
NM_000492.4(CFTR):c.1209+7A>T
|
rs767301152
|
0.00001
|
NM_000492.4(CFTR):c.1393-13G>A
|
rs779389972
|
0.00001
|
NM_000492.4(CFTR):c.164+12T>C
|
rs121908790
|
0.00001
|
NM_000492.4(CFTR):c.1766+33C>A
|
rs1462418106
|
0.00001
|
NM_000492.4(CFTR):c.2055A>G (p.Gln685=)
|
rs1457520634
|
0.00001
|
NM_000492.4(CFTR):c.2766A>G (p.Val922=)
|
rs762906556
|
0.00001
|
NM_000492.4(CFTR):c.3139+11G>C
|
rs555185521
|
0.00001
|
NM_000492.4(CFTR):c.3306A>G (p.Arg1102=)
|
rs746620950
|
0.00001
|
NM_000492.4(CFTR):c.333G>A (p.Pro111=)
|
rs776878618
|
0.00001
|
NM_000492.4(CFTR):c.3368-20C>T
|
rs761144879
|
0.00001
|
NM_000492.4(CFTR):c.3441A>G (p.Val1147=)
|
rs375687401
|
0.00001
|
NM_000492.4(CFTR):c.357C>T (p.Ile119=)
|
rs1264742569
|
0.00001
|
NM_000492.4(CFTR):c.900C>A (p.Ala300=)
|
rs146652541
|
0.00001
|
NM_000517.6(HBA2):c.193G>A (p.Asp65Asn)
|
rs281864849
|
0.00001
|
NM_000517.6(HBA2):c.307A>C (p.Ser103Arg)
|
rs41321052
|
0.00001
|
NM_000517.6(HBA2):c.414C>T (p.Thr138=)
|
rs371394396
|
0.00001
|
NM_000518.4(HBB):c.23A>G (p.Glu8Gly)
|
rs34387455
|
0.00001
|
NM_000518.4(HBB):c.410G>A (p.Gly137Asp)
|
rs33949486
|
0.00001
|
NM_000518.4(HBB):c.430C>T (p.His144Tyr)
|
rs33929415
|
0.00001
|
NM_000518.4(HBB):c.68A>C (p.Glu23Ala)
|
rs33936254
|
0.00001
|
NM_000518.5(HBB):c.122G>A (p.Arg41Lys)
|
rs34831026
|
0.00001
|
NM_000518.5(HBB):c.131A>C (p.Glu44Ala)
|
rs35262412
|
0.00001
|
NM_000518.5(HBB):c.171C>T (p.Gly57=)
|
rs193922551
|
0.00001
|
NM_000518.5(HBB):c.209G>A (p.Gly70Asp)
|
rs34718174
|
0.00001
|
NM_000518.5(HBB):c.286A>G (p.Lys96Glu)
|
rs33914359
|
0.00001
|
NM_000518.5(HBB):c.316-238C>T
|
rs558554234
|
0.00001
|
NM_000518.5(HBB):c.316-90A>G
|
rs63750433
|
0.00001
|
NM_000518.5(HBB):c.353A>G (p.His118Arg)
|
rs33935673
|
0.00001
|
NM_000518.5(HBB):c.380T>C (p.Val127Ala)
|
rs33925391
|
0.00001
|
NM_000527.5(LDLR):c.1635G>A (p.Gly545=)
|
rs767602284
|
0.00001
|
NM_000546.6(TP53):c.90C>T (p.Asn30=)
|
rs370992294
|
0.00001
|
NM_000546.6(TP53):c.994-5T>C
|
rs375273756
|
0.00001
|
NM_000548.5(TSC2):c.1258-18C>T
|
rs778741704
|
0.00001
|
NM_000548.5(TSC2):c.3366T>C (p.Arg1122=)
|
rs778352969
|
0.00001
|
NM_000548.5(TSC2):c.337-3T>C
|
rs770515822
|
0.00001
|
NM_000548.5(TSC2):c.481+9C>T
|
rs201026150
|
0.00001
|
NM_000548.5(TSC2):c.849-8A>G
|
rs765336852
|
0.00001
|
NM_000558.3(HBA1):c.341T>A (p.Leu114His)
|
rs35654345
|
0.00001
|
NM_000558.5(HBA1):c.255C>A (p.Ser85Arg)
|
rs33996798
|
0.00001
|
NM_000558.5(HBA1):c.301-49C>T
|
rs1237458487
|
0.00001
|
NM_000558.5(HBA1):c.62A>C (p.His21Pro)
|
rs33943087
|
0.00001
|
NM_000558.5(HBA1):c.63C>A (p.His21Gln)
|
rs281864502
|
0.00001
|
NM_000642.3(AGL):c.684C>T (p.Ile228=)
|
rs961563586
|
0.00001
|
NM_000719.7(CACNA1C):c.3558+10dup
|
rs1555884916
|
0.00001
|
NM_000719.7(CACNA1C):c.6039C>T (p.Pro2013=)
|
rs780157730
|
0.00001
|
NM_001003800.2(BICD2):c.1500C>T (p.Ala500=)
|
rs1275858663
|
0.00001
|
NM_001005361.3(DNM2):c.1110C>T (p.Phe370=)
|
rs201700534
|
0.00001
|
NM_001005361.3(DNM2):c.1989C>T (p.Tyr663=)
|
rs754264521
|
0.00001
|
NM_001009944.3(PKD1):c.12004-17A>G
|
rs749829518
|
0.00001
|
NM_001009944.3(PKD1):c.12250C>T (p.Pro4084Ser)
|
rs1363663761
|
0.00001
|
NM_001009944.3(PKD1):c.1304A>G (p.Gln435Arg)
|
rs1426435123
|
0.00001
|
NM_001009944.3(PKD1):c.2854-7C>T
|
rs1234512813
|
0.00001
|
NM_001009944.3(PKD1):c.2985+14G>A
|
rs2432399
|
0.00001
|
NM_001009944.3(PKD1):c.6420C>T (p.Thr2140=)
|
rs1321421286
|
0.00001
|
NM_001009944.3(PKD1):c.9518C>T (p.Pro3173Leu)
|
rs772608027
|
0.00001
|
NM_001013703.4(EIF2AK4):c.3307C>T (p.Leu1103=)
|
rs778131744
|
0.00001
|
NM_001013703.4(EIF2AK4):c.4806T>G (p.Thr1602=)
|
rs1268708595
|
0.00001
|
NM_001013703.4(EIF2AK4):c.4892+12C>T
|
rs371027516
|
0.00001
|
NM_001033855.3(DCLRE1C):c.537+14G>A
|
rs546891508
|
0.00001
|
NM_001035.3(RYR2):c.1203T>C (p.Asp401=)
|
rs1196750903
|
0.00001
|
NM_001035.3(RYR2):c.3808-17G>A
|
rs374061574
|
0.00001
|
NM_001035.3(RYR2):c.8129+20C>A
|
rs755080362
|
0.00001
|
NM_001040151.2(SCN3B):c.6T>C (p.Pro2=)
|
rs769826959
|
0.00001
|
NM_001042492.3(NF1):c.3390G>A (p.Arg1130=)
|
rs999720392
|
0.00001
|
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val)
|
rs565708398
|
0.00001
|
NM_001042631.3(SDHAF1):c.321A>C (p.Ala107=)
|
rs1348216250
|
0.00001
|
NM_001048174.2(MUTYH):c.116-75C>T
|
rs1481053395
|
0.00001
|
NM_001048174.2(MUTYH):c.705-20G>T
|
rs1645059942
|
0.00001
|
NM_001065.4(TNFRSF1A):c.270C>T (p.Thr90=)
|
rs200837112
|
0.00001
|
NM_001077620.3(PRCD):c.*151A>G
|
rs993077289
|
0.00001
|
NM_001110556.2(FLNA):c.4945+8C>T
|
rs1347132008
|
0.00001
|
NM_001110556.2(FLNA):c.5417-8C>T
|
rs782765679
|
0.00001
|
NM_001114753.3(ENG):c.1686+76G>T
|
rs992021844
|
0.00001
|
NM_001114753.3(ENG):c.1742-28C>T
|
rs752832223
|
0.00001
|
NM_001127671.2(LIFR):c.2910A>G (p.Ala970=)
|
rs1258728953
|
0.00001
|
NM_001130823.3(DNMT1):c.3456G>C (p.Leu1152=)
|
rs897612567
|
0.00001
|
NM_001134363.3(RBM20):c.2331T>C (p.Asp777=)
|
rs1428730678
|
0.00001
|
NM_001142864.4(PIEZO1):c.-18G>A
|
rs1264379107
|
0.00001
|
NM_001142864.4(PIEZO1):c.3399C>T (p.Asp1133=)
|
rs763870469
|
0.00001
|
NM_001142864.4(PIEZO1):c.5433C>G (p.Asp1811Glu)
|
rs1351344839
|
0.00001
|
NM_001142864.4(PIEZO1):c.5598G>C (p.Thr1866=)
|
rs943633234
|
0.00001
|
NM_001142864.4(PIEZO1):c.5619T>C (p.Phe1873=)
|
rs1433038327
|
0.00001
|
NM_001142864.4(PIEZO1):c.6333G>A (p.Leu2111=)
|
rs897031749
|
0.00001
|
NM_001142864.4(PIEZO1):c.6750G>A (p.Gln2250=)
|
rs1190241831
|
0.00001
|
NM_001148.6(ANK2):c.3045A>T (p.Ala1015=)
|
rs1588357219
|
0.00001
|
NM_001199397.3(NEK1):c.3848-10T>G
|
rs762040322
|
0.00001
|
NM_001199397.3(NEK1):c.777C>T (p.Ala259=)
|
rs1325143287
|
0.00001
|
NM_001243133.2(NLRP3):c.2321+12T>A
|
rs747043119
|
0.00001
|
NM_001243133.2(NLRP3):c.2811C>T (p.Pro937=)
|
rs545121784
|
0.00001
|
NM_001243133.2(NLRP3):c.696C>A (p.Ile232=)
|
rs746712429
|
0.00001
|
NM_001244008.2(KIF1A):c.3901+8C>T
|
rs1461765194
|
0.00001
|
NM_001267550.2(TTN):c.101979C>T (p.Ser33993=)
|
rs1429749651
|
0.00001
|
NM_001267550.2(TTN):c.11254+6T>C
|
rs747639608
|
0.00001
|
NM_001267550.2(TTN):c.15318T>C (p.Ile5106=)
|
rs537358981
|
0.00001
|
NM_001267550.2(TTN):c.15650G>A (p.Ser5217Asn)
|
rs1479096219
|
0.00001
|
NM_001267550.2(TTN):c.19314C>T (p.Asn6438=)
|
rs756954714
|
0.00001
|
NM_001267550.2(TTN):c.3963+8A>G
|
rs746377261
|
0.00001
|
NM_001267550.2(TTN):c.44281+14A>G
|
rs745533972
|
0.00001
|
NM_001267550.2(TTN):c.48081T>C (p.Arg16027=)
|
rs754088360
|
0.00001
|
NM_001267550.2(TTN):c.52386T>C (p.Leu17462=)
|
rs369139618
|
0.00001
|
NM_001267550.2(TTN):c.68352A>G (p.Glu22784=)
|
rs772087782
|
0.00001
|
NM_001267550.2(TTN):c.70455C>T (p.Ala23485=)
|
rs759693169
|
0.00001
|
NM_001267550.2(TTN):c.74562C>T (p.Thr24854=)
|
rs767193647
|
0.00001
|
NM_001267550.2(TTN):c.77166T>C (p.Pro25722=)
|
rs757252494
|
0.00001
|
NM_001267550.2(TTN):c.78270C>T (p.Asp26090=)
|
rs1048653371
|
0.00001
|
NM_001267550.2(TTN):c.88194T>G (p.Ser29398=)
|
rs1701745219
|
0.00001
|
NM_001267550.2(TTN):c.89379A>G (p.Thr29793=)
|
rs767935383
|
0.00001
|
NM_001270508.2(TNFAIP3):c.1710C>T (p.Leu570=)
|
rs542739083
|
0.00001
|
NM_001322934.2(NFKB2):c.2302C>T (p.Leu768=)
|
rs1554991897
|
0.00001
|
NM_001355436.2(SPTB):c.4305G>T (p.Leu1435=)
|
rs577158996
|
0.00001
|
NM_001360.3(DHCR7):c.98+20T>A
|
rs1017429578
|
0.00001
|
NM_001365536.1(SCN9A):c.1347T>C (p.Ser449=)
|
rs201990547
|
0.00001
|
NM_001365536.1(SCN9A):c.2277A>G (p.Leu759=)
|
rs201650761
|
0.00001
|
NM_001370259.2(MEN1):c.1404G>A (p.Glu468=)
|
rs755734265
|
0.00001
|
NM_001370259.2(MEN1):c.1608G>A (p.Gln536=)
|
rs1055457298
|
0.00001
|
NM_001370298.3(FGD4):c.1404+5T>C
|
rs373712001
|
0.00001
|
NM_001370466.1(NOD2):c.1428G>A (p.Glu476=)
|
rs104895434
|
0.00001
|
NM_001370466.1(NOD2):c.1563G>A (p.Leu521=)
|
rs369085294
|
0.00001
|
NM_001370466.1(NOD2):c.2304G>C (p.Leu768=)
|
rs1164125645
|
0.00001
|
NM_001375808.2(LPIN2):c.2443-4G>A
|
rs374426227
|
0.00001
|
NM_001376.5(DYNC1H1):c.6249A>G (p.Gln2083=)
|
rs754533185
|
0.00001
|
NM_001377.3(DYNC2H1):c.8361A>C (p.Ser2787=)
|
rs768132660
|
0.00001
|
NM_001384140.1(PCDH15):c.2001G>C (p.Thr667=)
|
rs200699443
|
0.00001
|
NM_001384474.1(LOXHD1):c.141G>T (p.Val47=)
|
rs749402939
|
0.00001
|
NM_001386125.1(OBSCN):c.16314T>G (p.Thr5438=)
|
rs1558320744
|
0.00001
|
NM_001386125.1(OBSCN):c.9172G>A (p.Ala3058Thr)
|
rs1433965473
|
0.00001
|
NM_001395413.1(POR):c.1173G>A (p.Gln391=)
|
rs1220024534
|
0.00001
|
NM_001395413.1(POR):c.1390-9T>G
|
rs1554559045
|
0.00001
|
NM_001395413.1(POR):c.1968G>A (p.Ala656=)
|
rs782446980
|
0.00001
|
NM_001395413.1(POR):c.2013C>T (p.Tyr671=)
|
rs1554559514
|
0.00001
|
NM_001457.4(FLNB):c.6078C>T (p.Asp2026=)
|
rs762010386
|
0.00001
|
NM_001458.5(FLNC):c.4023A>T (p.Arg1341=)
|
rs751884031
|
0.00001
|
NM_001458.5(FLNC):c.7749C>T (p.Ile2583=)
|
rs781217114
|
0.00001
|
NM_001567.4(INPPL1):c.465G>A (p.Gly155=)
|
rs760197203
|
0.00001
|
NM_001605.3(AARS1):c.1398C>T (p.Asp466=)
|
rs770132954
|
0.00001
|
NM_001613.4(ACTA2):c.963C>T (p.Ala321=)
|
rs1845777292
|
0.00001
|
NM_001844.5(COL2A1):c.3435+19G>A
|
rs41272759
|
0.00001
|
NM_001844.5(COL2A1):c.4326C>T (p.Thr1442=)
|
rs201223454
|
0.00001
|
NM_001903.5(CTNNA1):c.1965C>T (p.Ser655=)
|
rs760486358
|
0.00001
|
NM_001999.4(FBN2):c.1431G>A (p.Gly477=)
|
rs759633050
|
0.00001
|
NM_001999.4(FBN2):c.1604-5C>T
|
rs530806742
|
0.00001
|
NM_001999.4(FBN2):c.2042G>A (p.Arg681His)
|
rs548605398
|
0.00001
|
NM_001999.4(FBN2):c.2428+9T>C
|
rs368374358
|
0.00001
|
NM_001999.4(FBN2):c.2554+18C>T
|
rs778973357
|
0.00001
|
NM_001999.4(FBN2):c.4134C>T (p.Cys1378=)
|
rs775405425
|
0.00001
|
NM_001999.4(FBN2):c.5354-14T>C
|
rs756825167
|
0.00001
|
NM_001999.4(FBN2):c.573C>T (p.Ile191=)
|
rs370698125
|
0.00001
|
NM_001999.4(FBN2):c.7308A>T (p.Ile2436=)
|
rs1005611432
|
0.00001
|
NM_002047.4(GARS1):c.766G>C (p.Asp256His)
|
rs201399681
|
0.00001
|
NM_002317.7(LOX):c.878+17C>G
|
rs762609416
|
0.00001
|
NM_002439.5(MSH3):c.792+3A>G
|
rs1245725634
|
0.00001
|
NM_002454.3(MTRR):c.1952+14G>A
|
rs557018438
|
0.00001
|
NM_002471.4(MYH6):c.5472G>A (p.Leu1824=)
|
rs1890959581
|
0.00001
|
NM_002471.4(MYH6):c.5553G>A (p.Glu1851=)
|
rs763313787
|
0.00001
|
NM_002472.3(MYH8):c.3346-8A>G
|
rs770228589
|
0.00001
|
NM_002474.3(MYH11):c.2412-4C>T
|
rs750313377
|
0.00001
|
NM_002474.3(MYH11):c.2997+10G>T
|
rs886051760
|
0.00001
|
NM_002474.3(MYH11):c.3294-10del
|
rs756946356
|
0.00001
|
NM_002474.3(MYH11):c.768C>T (p.Ile256=)
|
rs756118392
|
0.00001
|
NM_002506.3(NGF):c.600T>C (p.Tyr200=)
|
rs774626005
|
0.00001
|
NM_002700.3(POU4F3):c.171C>G (p.Ala57=)
|
rs781289197
|
0.00001
|
NM_002769.5(PRSS1):c.200+8T>C
|
rs886038518
|
0.00001
|
NM_002769.5(PRSS1):c.201-37G>T
|
rs774875799
|
0.00001
|
NM_002769.5(PRSS1):c.561C>T (p.Gly187=)
|
rs1804561
|
0.00001
|
NM_002769.5(PRSS1):c.93G>A (p.Glu31=)
|
rs745623963
|
0.00001
|
NM_002834.5(PTPN11):c.1620C>T (p.His540=)
|
rs587781132
|
0.00001
|
NM_002890.3(RASA1):c.1348C>T (p.Leu450Phe)
|
rs757166432
|
0.00001
|
NM_002890.3(RASA1):c.2149A>G (p.Ile717Val)
|
rs972697183
|
0.00001
|
NM_002890.3(RASA1):c.2307G>A (p.Leu769=)
|
rs780065565
|
0.00001
|
NM_002972.4(SBF1):c.3462G>T (p.Pro1154=)
|
rs371815025
|
0.00001
|
NM_002972.4(SBF1):c.4437G>A (p.Val1479=)
|
rs1381685044
|
0.00001
|
NM_003000.3(SDHB):c.287-4T>C
|
rs200419171
|
0.00001
|
NM_003000.3(SDHB):c.696C>T (p.Ala232=)
|
rs779143585
|
0.00001
|
NM_003001.5(SDHC):c.9G>A (p.Ala3=)
|
rs749265569
|
0.00001
|
NM_003036.4(SKI):c.1152C>T (p.Pro384=)
|
rs200160702
|
0.00001
|
NM_003036.4(SKI):c.1317C>T (p.Val439=)
|
rs1446526482
|
0.00001
|
NM_003072.5(SMARCA4):c.3846C>T (p.Asn1282=)
|
rs776413354
|
0.00001
|
NM_003126.4(SPTA1):c.3570-11T>C
|
rs551180246
|
0.00001
|
NM_003238.6(TGFB2):c.1086+20G>C
|
rs201814950
|
0.00001
|
NM_003242.6(TGFBR2):c.6T>C (p.Gly2=)
|
rs758864131
|
0.00001
|
NM_003476.5(CSRP3):c.48C>T (p.Thr16=)
|
rs753120437
|
0.00001
|
NM_003482.4(KMT2D):c.10410G>T (p.Leu3470=)
|
rs747438612
|
0.00001
|
NM_003482.4(KMT2D):c.11949T>G (p.Thr3983=)
|
rs199578328
|
0.00001
|
NM_003640.5(ELP1):c.2778A>G (p.Lys926=)
|
rs751179612
|
0.00001
|
NM_003978.5(PSTPIP1):c.123G>A (p.Glu41=)
|
rs766141606
|
0.00001
|
NM_003978.5(PSTPIP1):c.384G>A (p.Lys128=)
|
rs868533109
|
0.00001
|
NM_003978.5(PSTPIP1):c.929+18G>A
|
rs773172907
|
0.00001
|
NM_004004.6(GJB2):c.435C>T (p.Ile145=)
|
rs1210470150
|
0.00001
|
NM_004006.3(DMD):c.7543-19G>A
|
rs398124048
|
0.00001
|
NM_004006.3(DMD):c.8508C>T (p.Gly2836=)
|
rs374374549
|
0.00001
|
NM_004082.5(DCTN1):c.2679C>T (p.Cys893=)
|
rs1253918840
|
0.00001
|
NM_004082.5(DCTN1):c.42C>T (p.Ser14=)
|
rs535554555
|
0.00001
|
NM_004100.5(EYA4):c.1839+18A>G
|
rs1305220868
|
0.00001
|
NM_004100.5(EYA4):c.888G>A (p.Ser296=)
|
rs768010410
|
0.00001
|
NM_004239.4(TRIP11):c.969T>G (p.Ser323=)
|
rs768358054
|
0.00001
|
NM_004360.5(CDH1):c.2073C>T (p.Ala691=)
|
rs536104508
|
0.00001
|
NM_004360.5(CDH1):c.2165-20T>C
|
rs1555517631
|
0.00001
|
NM_004360.5(CDH1):c.2542C>T (p.Leu848=)
|
rs1567517746
|
0.00001
|
NM_004415.4(DSP):c.1065G>A (p.Gln355=)
|
rs750289780
|
0.00001
|
NM_004655.4(AXIN2):c.2405+7G>A
|
rs373593841
|
0.00001
|
NM_004656.4(BAP1):c.1134G>A (p.Ala378=)
|
rs371493799
|
0.00001
|
NM_004984.4(KIF5A):c.1077G>A (p.Thr359=)
|
rs552427920
|
0.00001
|
NM_004990.4(MARS1):c.2094G>A (p.Lys698=)
|
rs1202869298
|
0.00001
|
NM_005334.3(HCFC1):c.3943A>C (p.Arg1315=)
|
rs782766895
|
0.00001
|
NM_005359.6(SMAD4):c.276T>C (p.His92=)
|
rs762501162
|
0.00001
|
NM_005359.6(SMAD4):c.325C>T (p.Leu109=)
|
rs1248541873
|
0.00001
|
NM_005359.6(SMAD4):c.525A>G (p.Glu175=)
|
rs368528856
|
0.00001
|
NM_005359.6(SMAD4):c.693C>T (p.Gly231=)
|
rs765597059
|
0.00001
|
NM_005518.4(HMGCS2):c.633C>T (p.Ala211=)
|
rs370124069
|
0.00001
|
NM_005529.7(HSPG2):c.11988G>A (p.Gly3996=)
|
rs749833238
|
0.00001
|
NM_005529.7(HSPG2):c.1296C>T (p.Gly432=)
|
rs776288943
|
0.00001
|
NM_005529.7(HSPG2):c.1654+10C>T
|
rs200578340
|
0.00001
|
NM_005529.7(HSPG2):c.1654+14C>T
|
rs376821721
|
0.00001
|
NM_005529.7(HSPG2):c.2448C>T (p.Cys816=)
|
rs752512173
|
0.00001
|
NM_005529.7(HSPG2):c.4644C>T (p.Tyr1548=)
|
rs1484348962
|
0.00001
|
NM_005529.7(HSPG2):c.8544C>T (p.Cys2848=)
|
rs369778477
|
0.00001
|
NM_005529.7(HSPG2):c.8911-20T>A
|
rs1287002126
|
0.00001
|
NM_005529.7(HSPG2):c.9234C>T (p.Ile3078=)
|
rs745391539
|
0.00001
|
NM_005751.5(AKAP9):c.6996A>G (p.Glu2332=)
|
rs1315064294
|
0.00001
|
NM_005902.4(SMAD3):c.206+11G>T
|
rs763321881
|
0.00001
|
NM_005902.4(SMAD3):c.658+15G>C
|
rs1296574345
|
0.00001
|
NM_006031.6(PCNT):c.1335A>G (p.Lys445=)
|
rs771882821
|
0.00001
|
NM_006031.6(PCNT):c.3030G>A (p.Thr1010=)
|
rs752831769
|
0.00001
|
NM_006031.6(PCNT):c.5975C>T (p.Pro1992Leu)
|
rs758977418
|
0.00001
|
NM_006031.6(PCNT):c.7104T>C (p.Pro2368=)
|
rs576187743
|
0.00001
|
NM_006096.4(NDRG1):c.591G>A (p.Gly197=)
|
rs377257830
|
0.00001
|
NM_006096.4(NDRG1):c.699-16C>G
|
rs567104964
|
0.00001
|
NM_006269.2(RP1):c.2511A>G (p.Gln837=)
|
rs753558619
|
0.00001
|
NM_006269.2(RP1):c.615+19C>T
|
rs374595990
|
0.00001
|
NM_006371.5(CRTAP):c.249C>T (p.Phe83=)
|
rs781058476
|
0.00001
|
NM_006445.4(PRPF8):c.1099-8T>C
|
rs200865270
|
0.00001
|
NM_006446.5(SLCO1B1):c.1812C>T (p.Thr604=)
|
rs779508352
|
0.00001
|
NM_006446.5(SLCO1B1):c.79T>C (p.Leu27=)
|
rs190581845
|
0.00001
|
NM_006736.6(DNAJB2):c.446-17C>G
|
rs760786001
|
0.00001
|
NM_006767.4(LZTR1):c.1260+13T>C
|
rs773200225
|
0.00001
|
NM_006767.4(LZTR1):c.2325+13C>G
|
rs768520949
|
0.00001
|
NM_006892.4(DNMT3B):c.2421-4C>T
|
rs766802588
|
0.00001
|
NM_007272.3(CTRC):c.230+7G>A
|
rs754126755
|
0.00001
|
NM_007272.3(CTRC):c.40+18G>A
|
rs1708076823
|
0.00001
|
NM_007272.3(CTRC):c.462C>T (p.Pro154=)
|
rs776457510
|
0.00001
|
NM_007272.3(CTRC):c.474C>T (p.Thr158=)
|
rs759334187
|
0.00001
|
NM_007272.3(CTRC):c.493+38G>A
|
rs1488630264
|
0.00001
|
NM_007272.3(CTRC):c.639+45A>G
|
rs776164776
|
0.00001
|
NM_007294.4(BRCA1):c.1704T>G (p.Pro568=)
|
rs587780795
|
0.00001
|
NM_007294.4(BRCA1):c.2207A>C (p.Glu736Ala)
|
rs397507196
|
0.00001
|
NM_007294.4(BRCA1):c.3327A>C (p.Lys1109Asn)
|
rs41293449
|
0.00001
|
NM_007294.4(BRCA1):c.3541G>A (p.Val1181Ile)
|
rs56336919
|
0.00001
|
NM_007294.4(BRCA1):c.3909G>A (p.Leu1303=)
|
rs1597860507
|
0.00001
|
NM_007294.4(BRCA1):c.4097-10G>A
|
rs80358057
|
0.00001
|
NM_007294.4(BRCA1):c.4204C>T (p.His1402Tyr)
|
rs80357365
|
0.00001
|
NM_007294.4(BRCA1):c.4332T>C (p.Asn1444=)
|
rs752824502
|
0.00001
|
NM_007294.4(BRCA1):c.4358-37G>A
|
rs546408259
|
0.00001
|
NM_007294.4(BRCA1):c.4485-8C>T
|
rs397507234
|
0.00001
|
NM_007294.4(BRCA1):c.4635C>T (p.His1545=)
|
rs373686790
|
0.00001
|
NM_007294.4(BRCA1):c.5152+10A>G
|
rs80358114
|
0.00001
|
NM_007294.4(BRCA1):c.5382G>C (p.Glu1794Asp)
|
rs397509275
|
0.00001
|
NM_007294.4(BRCA1):c.5406+17C>T
|
rs1057522773
|
0.00001
|
NM_007294.4(BRCA1):c.5456A>G (p.Asn1819Ser)
|
rs80357286
|
0.00001
|
NM_007294.4(BRCA1):c.548-18T>G
|
rs397507251
|
0.00001
|
NM_007294.4(BRCA1):c.593+9A>G
|
rs80358133
|
0.00001
|
NM_007294.4(BRCA1):c.825C>T (p.Gly275=)
|
rs397509328
|
0.00001
|
NM_007373.4(SHOC2):c.303T>C (p.Asn101=)
|
rs750568201
|
0.00001
|
NM_012073.5(CCT5):c.1005C>T (p.Ile335=)
|
rs1282889055
|
0.00001
|
NM_012452.3(TNFRSF13B):c.633T>C (p.Asp211=)
|
rs199592890
|
0.00001
|
NM_014000.3(VCL):c.2490G>A (p.Lys830=)
|
rs1158015710
|
0.00001
|
NM_014391.3(ANKRD1):c.678G>A (p.Ala226=)
|
rs376432423
|
0.00001
|
NM_015046.7(SETX):c.5901A>G (p.Thr1967=)
|
rs780717865
|
0.00001
|
NM_015271.5(TRIM2):c.1518A>G (p.Lys506=)
|
rs773419235
|
0.00001
|
NM_015512.5(DNAH1):c.6795C>T (p.Thr2265=)
|
rs367699532
|
0.00001
|
NM_016156.6(MTMR2):c.213A>G (p.Ala71=)
|
rs1402885565
|
0.00001
|
NM_016203.4(PRKAG2):c.186+12T>C
|
rs374155169
|
0.00001
|
NM_016204.4(GDF2):c.714C>T (p.Asp238=)
|
rs782288867
|
0.00001
|
NM_016938.5(EFEMP2):c.231C>T (p.Gly77=)
|
rs928050535
|
0.00001
|
NM_017617.5(NOTCH1):c.7590C>T (p.Ser2530=)
|
rs371067732
|
0.00001
|
NM_017668.3(NDE1):c.948-39G>A
|
rs571613839
|
0.00001
|
NM_018706.7(DHTKD1):c.387G>A (p.Gln129=)
|
rs1832871596
|
0.00001
|
NM_018979.4(WNK1):c.6021A>G (p.Leu2007=)
|
rs1466331283
|
0.00001
|
NM_019075.4(UGT1A10):c.855+45435G>A
|
rs1274355899
|
0.00001
|
NM_020297.4(ABCC9):c.306C>T (p.Leu102=)
|
rs994917919
|
0.00001
|
NM_020297.4(ABCC9):c.4103-15del
|
rs752897619
|
0.00001
|
NM_020366.4(RPGRIP1):c.1965C>T (p.Thr655=)
|
rs781676562
|
0.00001
|
NM_020366.4(RPGRIP1):c.708G>A (p.Glu236=)
|
rs770273789
|
0.00001
|
NM_020433.5(JPH2):c.837C>T (p.Phe279=)
|
rs773521151
|
0.00001
|
NM_020631.6(PLEKHG5):c.510G>A (p.Pro170=)
|
rs773624292
|
0.00001
|
NM_020800.3(IFT80):c.440-12T>G
|
rs748442129
|
0.00001
|
NM_020975.6(RET):c.1890C>T (p.Cys630=)
|
rs781145070
|
0.00001
|
NM_020975.6(RET):c.918A>G (p.Ala306=)
|
rs1060504034
|
0.00001
|
NM_021625.5(TRPV4):c.1002C>T (p.Asn334=)
|
rs1034780415
|
0.00001
|
NM_021815.5(SLC5A7):c.1362G>A (p.Leu454=)
|
rs561099749
|
0.00001
|
NM_022356.4(P3H1):c.1086C>T (p.Ala362=)
|
rs777090883
|
0.00001
|
NM_022489.4(INF2):c.2490-15C>A
|
rs775068618
|
0.00001
|
NM_022489.4(INF2):c.654G>T (p.Arg218=)
|
rs745354738
|
0.00001
|
NM_022489.4(INF2):c.720C>T (p.Asp240=)
|
rs1243280313
|
0.00001
|
NM_023110.3(FGFR1):c.1978-16C>T
|
rs764971696
|
0.00001
|
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg)
|
rs756778249
|
0.00001
|
NM_024675.4(PALB2):c.1792C>T (p.Leu598=)
|
rs746702349
|
0.00001
|
NM_024675.4(PALB2):c.2438T>C (p.Ile813Thr)
|
rs763191051
|
0.00001
|
NM_024675.4(PALB2):c.3483T>C (p.Phe1161=)
|
rs372686500
|
0.00001
|
NM_024753.5(TTC21B):c.843A>G (p.Glu281=)
|
rs201311475
|
0.00001
|
NM_030777.4(SLC2A10):c.180C>T (p.Leu60=)
|
rs371988251
|
0.00001
|
NM_030962.4(SBF2):c.1893C>T (p.Ala631=)
|
rs760154688
|
0.00001
|
NM_030962.4(SBF2):c.3976A>C (p.Arg1326=)
|
rs928249984
|
0.00001
|
NM_030962.4(SBF2):c.4416C>T (p.Phe1472=)
|
rs1347990916
|
0.00001
|
NM_030973.4(MED25):c.1230+7G>T
|
rs1412475364
|
0.00001
|
NM_030973.4(MED25):c.1899C>T (p.Pro633=)
|
rs1225715903
|
0.00001
|
NM_031443.4(CCM2):c.1290C>T (p.Ser430=)
|
rs778959221
|
0.00001
|
NM_032119.4(ADGRV1):c.15285T>C (p.Thr5095=)
|
rs745990374
|
0.00001
|
NM_032578.4(MYPN):c.1245+19A>G
|
rs773859141
|
0.00001
|
NM_053025.4(MYLK):c.1314C>T (p.Ser438=)
|
rs200423954
|
0.00001
|
NM_053025.4(MYLK):c.2388C>T (p.Leu796=)
|
rs193007255
|
0.00001
|
NM_053025.4(MYLK):c.2853C>T (p.Val951=)
|
rs769322491
|
0.00001
|
NM_053025.4(MYLK):c.3462C>T (p.Ser1154=)
|
rs768346816
|
0.00001
|
NM_053025.4(MYLK):c.4392C>T (p.Tyr1464=)
|
rs565217509
|
0.00001
|
NM_054012.4(ASS1):c.711C>T (p.Asn237=)
|
rs779981831
|
0.00001
|
NM_138477.4(CDAN1):c.2869-4G>A
|
rs749321986
|
0.00001
|
NM_138477.4(CDAN1):c.2937C>T (p.Ala979=)
|
rs781767396
|
0.00001
|
NM_139276.3(STAT3):c.1601-8_1601-7insG
|
rs1555564070
|
0.00001
|
NM_144596.4(TTC8):c.711-16A>C
|
rs747396066
|
0.00001
|
NM_144687.4(NLRP12):c.1386C>T (p.Cys462=)
|
rs1369275354
|
0.00001
|
NM_144687.4(NLRP12):c.289+14G>A
|
rs777899039
|
0.00001
|
NM_144687.4(NLRP12):c.654G>A (p.Ala218=)
|
rs745766441
|
0.00001
|
NM_144997.7(FLCN):c.1419A>C (p.Val473=)
|
rs141036419
|
0.00001
|
NM_145691.4(ATPAF2):c.393C>T (p.Ala131=)
|
rs202006856
|
0.00001
|
NM_147127.5(EVC2):c.451-7del
|
rs1290670058
|
0.00001
|
NM_152281.3(GORAB):c.156G>T (p.Gly52=)
|
rs190850168
|
0.00001
|
NM_153676.4(USH1C):c.1020-7G>A
|
rs1554960567
|
0.00001
|
NM_153717.3(EVC):c.2782+13dup
|
rs770549797
|
0.00001
|
NM_170707.4(LMNA):c.1157+19G>A
|
rs757715731
|
0.00001
|
NM_174934.4(SCN4B):c.62-16G>A
|
rs772762943
|
0.00001
|
NM_177438.3(DICER1):c.1758G>A (p.Leu586=)
|
rs368558276
|
0.00001
|
NM_181882.3(PRX):c.1251G>T (p.Leu417=)
|
rs751470543
|
0.00001
|
NM_181882.3(PRX):c.354G>A (p.Lys118=)
|
rs1044654884
|
0.00001
|
NM_182961.4(SYNE1):c.12693A>G (p.Gln4231=)
|
rs1266975368
|
0.00001
|
NM_182961.4(SYNE1):c.26106G>A (p.Lys8702=)
|
rs765865910
|
0.00001
|
NM_182961.4(SYNE1):c.3087T>C (p.Asn1029=)
|
rs770801617
|
0.00001
|
NM_194454.3(KRIT1):c.1041T>C (p.Asn347=)
|
rs373275660
|
0.00001
|
NM_198253.3(TERT):c.2850C>G (p.Ala950=)
|
rs758664162
|
0.00001
|
NM_201253.3(CRB1):c.1995T>C (p.Asn665=)
|
rs774597710
|
0.00001
|
NM_201253.3(CRB1):c.4074C>T (p.Ile1358=)
|
rs753097155
|
0.00001
|
NM_203486.3(DLL3):c.138G>A (p.Pro46=)
|
rs987371248
|
0.00001
|
NC_000011.10:g.5225390C>A
|
rs1589890997
|
|
NC_000011.10:g.5227294=
|
|
|
NC_000016.10:g.173755A>T
|
rs2261869
|
|
NC_000016.10:g.177536T>G
|
rs985858191
|
|
NM_000018.4(ACADVL):c.1434+14T>A
|
rs202217537
|
|
NM_000018.4(ACADVL):c.1435-27T>A
|
rs1281849589
|
|
NM_000018.4(ACADVL):c.1678+29T>C
|
rs1023643662
|
|
NM_000018.4(ACADVL):c.62+10del
|
rs1251002707
|
|
NM_000020.3(ACVRL1):c.*45del
|
rs761647766
|
|
NM_000020.3(ACVRL1):c.1377+55T>C
|
|
|
NM_000020.3(ACVRL1):c.375C>T (p.Pro125=)
|
rs148975811
|
|
NM_000022.4(ADA):c.607-7dup
|
|
|
NM_000037.4(ANK1):c.1207-6T>C
|
|
|
NM_000037.4(ANK1):c.1659G>A (p.Glu553=)
|
|
|
NM_000037.4(ANK1):c.2461+20C>T
|
|
|
NM_000037.4(ANK1):c.3115+18C>T
|
|
|
NM_000037.4(ANK1):c.3327+19G>T
|
rs200871595
|
|
NM_000037.4(ANK1):c.3342G>A (p.Pro1114=)
|
rs374102892
|
|
NM_000037.4(ANK1):c.3829G>A (p.Val1277Met)
|
rs148942046
|
|
NM_000037.4(ANK1):c.3984+10C>T
|
|
|
NM_000037.4(ANK1):c.4391-18T>C
|
|
|
NM_000037.4(ANK1):c.4974C>T (p.Asp1658=)
|
rs149859024
|
|
NM_000037.4(ANK1):c.5233G>A (p.Gly1745Ser)
|
|
|
NM_000038.6(APC):c.2651C>T (p.Ala884Val)
|
rs750217875
|
|
NM_000038.6(APC):c.2739T>C (p.His913=)
|
rs553363502
|
|
NM_000038.6(APC):c.3117A>C (p.Gly1039=)
|
rs1580631098
|
|
NM_000038.6(APC):c.5839A>C (p.Thr1947Pro)
|
rs746346292
|
|
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup)
|
rs587780602
|
|
NM_000038.6(APC):c.6900T>C (p.Ser2300=)
|
rs202012533
|
|
NM_000038.6(APC):c.7794C>G (p.Thr2598=)
|
rs1554088662
|
|
NM_000051.4(ATM):c.1314A>C (p.Ile438=)
|
rs770573462
|
|
NM_000051.4(ATM):c.2148C>G (p.Val716=)
|
rs1800701
|
|
NM_000051.4(ATM):c.2838+9C>A
|
rs370160823
|
|
NM_000051.4(ATM):c.5005+17C>T
|
rs200688912
|
|
NM_000052.7(ATP7A):c.3295-6del
|
rs1557237411
|
|
NM_000053.4(ATP7B):c.1707+17C>A
|
|
|
NM_000053.4(ATP7B):c.1707+18G>A
|
|
|
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=)
|
rs746358240
|
|
NM_000053.4(ATP7B):c.3556+29TC[2]
|
rs575346789
|
|
NM_000053.4(ATP7B):c.3615T>C (p.Ala1205=)
|
rs755324767
|
|
NM_000053.4(ATP7B):c.51+14C>T
|
rs1566687529
|
|
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs)
|
rs276174803
|
|
NM_000059.4(BRCA2):c.1074G>T (p.Val358=)
|
rs276174805
|
|
NM_000059.4(BRCA2):c.1166C>A (p.Pro389Gln)
|
rs397507263
|
|
NM_000059.4(BRCA2):c.1254A>G (p.Ser418=)
|
rs1052409595
|
|
NM_000059.4(BRCA2):c.1460C>A (p.Ala487Glu)
|
rs56390402
|
|
NM_000059.4(BRCA2):c.1545T>G (p.Thr515=)
|
rs786202158
|
|
NM_000059.4(BRCA2):c.1719T>C (p.Ala573=)
|
rs1450934154
|
|
NM_000059.4(BRCA2):c.2820A>G (p.Gln940=)
|
rs771061558
|
|
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del)
|
rs80359406
|
|
NM_000059.4(BRCA2):c.4242G>A (p.Thr1414=)
|
rs750495335
|
|
NM_000059.4(BRCA2):c.430GTT[1] (p.Val145del)
|
rs80359442
|
|
NM_000059.4(BRCA2):c.4680C>T (p.Ser1560=)
|
rs1593903115
|
|
NM_000059.4(BRCA2):c.475+16A>T
|
rs863224308
|
|
NM_000059.4(BRCA2):c.48G>A (p.Lys16=)
|
|
|
NM_000059.4(BRCA2):c.5634C>T (p.Asn1878=)
|
rs80358784
|
|
NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala)
|
rs56191579
|
|
NM_000059.4(BRCA2):c.6841+8T>G
|
rs2137531137
|
|
NM_000059.4(BRCA2):c.6938-25_6938-19del
|
rs762815401
|
|
NM_000059.4(BRCA2):c.7242A>T (p.Ser2414=)
|
rs1799955
|
|
NM_000059.4(BRCA2):c.7436-30T>G
|
rs925773518
|
|
NM_000059.4(BRCA2):c.7569G>A (p.Leu2523=)
|
rs786201620
|
|
NM_000059.4(BRCA2):c.7806-30T>A
|
rs1555286796
|
|
NM_000059.4(BRCA2):c.7976+35C>T
|
rs181176701
|
|
NM_000059.4(BRCA2):c.8633-16C>A
|
rs81002818
|
|
NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser)
|
rs80359165
|
|
NM_000059.4(BRCA2):c.9113_9115dup (p.Leu3038dup)
|
rs80359749
|
|
NM_000059.4(BRCA2):c.9257-10dup
|
rs276174919
|
|
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr)
|
rs55939572
|
|
NM_000059.4(BRCA2):c.9606G>C (p.Pro3202=)
|
rs755890067
|
|
NM_000071.3(CBS):c.1358+15C>G
|
rs186497436
|
|
NM_000071.3(CBS):c.1368G>T (p.Leu456=)
|
rs199941488
|
|
NM_000071.3(CBS):c.1500G>A (p.Ser500=)
|
rs1057522901
|
|
NM_000071.3(CBS):c.183C>A (p.Ser61=)
|
rs753906914
|
|
NM_000071.3(CBS):c.667-4G>A
|
rs750338571
|
|
NM_000077.5(CDKN2A):c.369T>A (p.His123Gln)
|
rs6413463
|
|
NM_000088.4(COL1A1):c.1077G>T (p.Gly359=)
|
|
|
NM_000088.4(COL1A1):c.1674C>A (p.Pro558=)
|
|
|
NM_000088.4(COL1A1):c.381C>T (p.Gly127=)
|
|
|
NM_000088.4(COL1A1):c.4056G>C (p.Leu1352=)
|
|
|
NM_000088.4(COL1A1):c.472-13_472-12del
|
rs1210027118
|
|
NM_000088.4(COL1A1):c.805-14C>G
|
|
|
NM_000089.4(COL1A2):c.1665+81del
|
rs140284827
|
|
NM_000089.4(COL1A2):c.2469T>A (p.Gly823=)
|
rs1792200314
|
|
NM_000089.4(COL1A2):c.2766T>G (p.Gly922=)
|
rs1792248803
|
|
NM_000089.4(COL1A2):c.81+11del
|
rs193922174
|
|
NM_000090.4(COL3A1):c.1149+7A>G
|
rs1688231707
|
|
NM_000090.4(COL3A1):c.1456-16C>G
|
rs748670622
|
|
NM_000090.4(COL3A1):c.1566A>G (p.Gly522=)
|
rs2153502556
|
|
NM_000090.4(COL3A1):c.2862A>T (p.Gly954=)
|
rs1377418572
|
|
NM_000090.4(COL3A1):c.3222T>G (p.Gly1074=)
|
rs1060503873
|
|
NM_000093.5(COL5A1):c.1224G>C (p.Thr408=)
|
rs139406076
|
|
NM_000093.5(COL5A1):c.1290C>T (p.Ile430=)
|
rs572136244
|
|
NM_000093.5(COL5A1):c.1827+12G>A
|
rs1251697175
|
|
NM_000093.5(COL5A1):c.1882-5del
|
rs1554793544
|
|
NM_000093.5(COL5A1):c.1989+14C>T
|
|
|
NM_000093.5(COL5A1):c.2088+18C>G
|
rs889625058
|
|
NM_000093.5(COL5A1):c.2262A>G (p.Gly754=)
|
rs1836755970
|
|
NM_000093.5(COL5A1):c.2430+16C>T
|
rs530385215
|
|
NM_000093.5(COL5A1):c.3260G>C (p.Gly1087Ala)
|
rs559882772
|
|
NM_000093.5(COL5A1):c.3945C>T (p.Gly1315=)
|
|
|
NM_000093.5(COL5A1):c.4464C>A (p.Ile1488=)
|
rs148669237
|
|
NM_000093.5(COL5A1):c.4650A>T (p.Pro1550=)
|
rs778312075
|
|
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr)
|
rs143859495
|
|
NM_000093.5(COL5A1):c.558G>A (p.Lys186=)
|
rs1564397188
|
|
NM_000093.5(COL5A1):c.924+18G>C
|
|
|
NM_000095.3(COMP):c.2088-4T>C
|
rs1601049644
|
|
NM_000095.3(COMP):c.437G>A (p.Ser146Asn)
|
rs1311065591
|
|
NM_000095.3(COMP):c.79+102C>T
|
rs978469885
|
|
NM_000112.4(SLC26A2):c.552C>G (p.Gly184=)
|
|
|
NM_000121.4(EPOR):c.957C>G (p.Pro319=)
|
|
|
NM_000132.4(F8):c.2961G>C (p.Glu987Asp)
|
|
|
NM_000132.4(F8):c.312C>A (p.Val104=)
|
|
|
NM_000138.5(FBN1):c.1588+10T>G
|
rs761924614
|
|
NM_000138.5(FBN1):c.2952C>T (p.Val984=)
|
rs374670384
|
|
NM_000138.5(FBN1):c.4863A>G (p.Lys1621=)
|
rs2043314687
|
|
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=)
|
rs141925790
|
|
NM_000138.5(FBN1):c.6141C>T (p.Ser2047=)
|
rs2141245369
|
|
NM_000138.5(FBN1):c.6219C>G (p.Pro2073=)
|
rs771786623
|
|
NM_000138.5(FBN1):c.6832C>G (p.Pro2278Ala)
|
rs363835
|
|
NM_000138.5(FBN1):c.7700-9C>G
|
rs772261791
|
|
NM_000138.5(FBN1):c.8223C>G (p.Ile2741Met)
|
rs150065311
|
|
NM_000138.5(FBN1):c.988+11T>G
|
|
|
NM_000141.5(FGFR2):c.2328C>T (p.Leu776=)
|
rs148478597
|
|
NM_000141.5(FGFR2):c.543C>G (p.Ala181=)
|
rs150598483
|
|
NM_000142.5(FGFR3):c.75G>A (p.Leu25=)
|
rs762402180
|
|
NM_000142.5(FGFR3):c.912C>G (p.Pro304=)
|
rs201012537
|
|
NM_000142.5(FGFR3):c.931-797G>A
|
|
|
NM_000152.5(GAA):c.858+6GCGGCGG[3]
|
rs1555599723
|
|
NM_000155.4(GALT):c.291C>T (p.Asn97=)
|
rs398123180
|
|
NM_000162.5(GCK):c.300C>T (p.Ser100=)
|
|
|
NM_000162.5(GCK):c.432G>T (p.Leu144=)
|
|
|
NM_000175.5(GPI):c.1063-13G>C
|
|
|
NM_000175.5(GPI):c.1143G>C (p.Gly381=)
|
rs1214297048
|
|
NM_000175.5(GPI):c.487-14A>G
|
|
|
NM_000175.5(GPI):c.603C>G (p.Pro201=)
|
rs1062480
|
|
NM_000175.5(GPI):c.751-5del
|
rs375313737
|
|
NM_000178.4(GSS):c.1059G>A (p.Glu353=)
|
|
|
NM_000178.4(GSS):c.129+1688A>G
|
rs7344898
|
|
NM_000178.4(GSS):c.129+9del
|
rs768666515
|
|
NM_000178.4(GSS):c.1332C>T (p.His444=)
|
|
|
NM_000178.4(GSS):c.144C>G (p.Ala48=)
|
|
|
NM_000178.4(GSS):c.275+7del
|
rs768555177
|
|
NM_000178.4(GSS):c.690-7T>C
|
|
|
NM_000179.3(MSH6):c.2161A>C (p.Arg721=)
|
rs537604099
|
|
NM_000179.3(MSH6):c.2292T>C (p.Thr764=)
|
rs1553413668
|
|
NM_000179.3(MSH6):c.261-14C>T
|
rs369366445
|
|
NM_000179.3(MSH6):c.3162C>T (p.Ile1054=)
|
rs149605979
|
|
NM_000179.3(MSH6):c.3173-18T>A
|
rs189672273
|
|
NM_000179.3(MSH6):c.4001+2TAAC[2]
|
rs267608132
|
|
NM_000183.3(HADHB):c.110-2353C>T
|
|
|
NM_000184.2(HBG2):c.199A>C (p.Lys67Gln)
|
rs34264694
|
|
NM_000184.2(HBG2):c.49G>C (p.Gly17Arg)
|
rs34907654
|
|
NM_000184.3(HBG2):c.135C>G (p.Ser45Arg)
|
|
|
NM_000188.3(HK1):c.1266-10C>T
|
rs2132884007
|
|
NM_000188.3(HK1):c.1571-9C>T
|
rs1435466049
|
|
NM_000188.3(HK1):c.2370C>T (p.Ile790=)
|
rs150711083
|
|
NM_000209.4(PDX1):c.825G>C (p.Ala275=)
|
|
|
NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup)
|
rs397515877
|
|
NM_000231.3(SGCG):c.505+15G>T
|
rs144143366
|
|
NM_000238.4(KCNH2):c.2398+105del
|
rs546898924
|
|
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1])
|
rs551056698
|
|
NM_000238.4(KCNH2):c.77-5C>G
|
rs72549419
|
|
NM_000243.3(MEFV):c.1092G>A (p.Pro364=)
|
rs11466022
|
|
NM_000243.3(MEFV):c.1092G>T (p.Pro364=)
|
rs11466022
|
|
NM_000243.3(MEFV):c.1260+17T>C
|
rs1357578983
|
|
NM_000243.3(MEFV):c.1417C>T (p.Leu473=)
|
|
|
NM_000243.3(MEFV):c.1461G>T (p.Val487=)
|
rs1370559441
|
|
NM_000243.3(MEFV):c.1536G>A (p.Leu512=)
|
|
|
NM_000243.3(MEFV):c.1588-12T>A
|
|
|
NM_000243.3(MEFV):c.1759+11C>T
|
rs370349451
|
|
NM_000243.3(MEFV):c.2271C>T (p.Ser757=)
|
rs772754956
|
|
NM_000243.3(MEFV):c.342G>A (p.Lys114=)
|
rs981883034
|
|
NM_000243.3(MEFV):c.414A>T (p.Gly138=)
|
rs224224
|
|
NM_000243.3(MEFV):c.564C>T (p.Pro188=)
|
rs775755423
|
|
NM_000249.4(MLH1):c.1732-19T>C
|
rs77120160
|
|
NM_000249.4(MLH1):c.1897-18C>A
|
rs1553663682
|
|
NM_000249.4(MLH1):c.2088C>G (p.Thr696=)
|
rs1060504015
|
|
NM_000249.4(MLH1):c.678-14C>T
|
|
|
NM_000249.4(MLH1):c.790+10A>C
|
rs182733777
|
|
NM_000249.4(MLH1):c.85G>T (p.Ala29Ser)
|
rs63750656
|
|
NM_000251.3(MSH2):c.1387-14_1387-11del
|
rs370436680
|
|
NM_000251.3(MSH2):c.1511-16C>T
|
rs768540784
|
|
NM_000251.3(MSH2):c.1746C>T (p.Val582=)
|
rs786201486
|
|
NM_000251.3(MSH2):c.1760-7del
|
rs754968844
|
|
NM_000251.3(MSH2):c.849T>C (p.Asp283=)
|
rs876659344
|
|
NM_000251.3(MSH2):c.942+21_942+29del
|
rs11309117
|
|
NM_000256.3(MYBPC3):c.3815-14C>T
|
rs1003286810
|
|
NM_000257.4(MYH7):c.2118G>A (p.Arg706=)
|
rs3181426
|
|
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys)
|
rs141764279
|
|
NM_000260.4(MYO7A):c.133-7C>T
|
rs111033221
|
|
NM_000264.5(PTCH1):c.113G>T (p.Gly38Val)
|
rs143494325
|
|
NM_000264.5(PTCH1):c.3804+28G>A
|
rs200724772
|
|
NM_000288.4(PEX7):c.408T>G (p.Thr136=)
|
rs776675774
|
|
NM_000289.6(PFKM):c.1338_1339delinsAA (p.Gln447Lys)
|
rs1555206566
|
|
NM_000289.6(PFKM):c.150T>C (p.Phe50=)
|
|
|
NM_000291.4(PGK1):c.1152C>T (p.Asn384=)
|
|
|
NM_000291.4(PGK1):c.417+13A>T
|
|
|
NM_000291.4(PGK1):c.937-17dup
|
rs782576397
|
|
NM_000298.6(PKLR):c.376-11C>G
|
rs1647538523
|
|
NM_000298.6(PKLR):c.966-7C>T
|
|
|
NM_000302.4(PLOD1):c.1903-14dup
|
rs748794198
|
|
NM_000302.4(PLOD1):c.77-3320G>C
|
rs2100738654
|
|
NM_000302.4(PLOD1):c.77-3351T>C
|
rs1397591568
|
|
NM_000304.4(PMP22):c.79-23del
|
|
|
NM_000311.3(PRNP):c.204_227del24 (p.Pro84_Gln91del)
|
rs193922906
|
|
NM_000314.8(PTEN):c.254-62A>C
|
rs1052364593
|
|
NM_000314.8(PTEN):c.396T>C (p.Gly132=)
|
rs1564830257
|
|
NM_000314.8(PTEN):c.79+33_79+36del
|
rs1465716096
|
|
NM_000316.3(PTH1R):c.1116+7del
|
|
|
NM_000316.3(PTH1R):c.1320G>A (p.Gln440=)
|
rs1575526100
|
|
NM_000321.3(RB1):c.2460A>G (p.Pro820=)
|
rs1555294628
|
|
NM_000322.5(PRPH2):c.483C>G (p.Ile161Met)
|
rs76989855
|
|
NM_000342.4(SLC4A1):c.1446C>T (p.Asn482=)
|
|
|
NM_000342.4(SLC4A1):c.1627-3C>T
|
|
|
NM_000342.4(SLC4A1):c.1891-7C>T
|
|
|
NM_000342.4(SLC4A1):c.1899G>A (p.Ser633=)
|
|
|
NM_000342.4(SLC4A1):c.2298C>A (p.Val766=)
|
rs767295098
|
|
NM_000342.4(SLC4A1):c.291G>A (p.Pro97=)
|
|
|
NM_000342.4(SLC4A1):c.765G>C (p.Ala255=)
|
rs144835638
|
|
NM_000342.4(SLC4A1):c.92T>C (p.Met31Thr)
|
rs55773290
|
|
NM_000346.4(SOX9):c.1023GCC[4] (p.Pro346dup)
|
rs776337541
|
|
NM_000346.4(SOX9):c.715A>C (p.Thr239Pro)
|
rs1275128261
|
|
NM_000350.3(ABCA4):c.4458A>T (p.Pro1486=)
|
rs754181190
|
|
NM_000352.6(ABCC8):c.2041-12C>T
|
rs201419039
|
|
NM_000352.6(ABCC8):c.2695-20G>A
|
|
|
NM_000352.6(ABCC8):c.3329+11C>T
|
|
|
NM_000355.4(TCN2):c.495T>C (p.Cys165=)
|
rs1569040542
|
|
NM_000355.4(TCN2):c.581-8A>G
|
rs7290898
|
|
NM_000365.6(TPI1):c.457+7C>G
|
|
|
NM_000368.5(TSC1):c.-80-10T>C
|
rs886063625
|
|
NM_000371.4(TTR):c.120C>T (p.Val40=)
|
|
|
NM_000371.4(TTR):c.201-27C>A
|
rs1315540051
|
|
NM_000371.4(TTR):c.9T>C (p.Ser3=)
|
rs1598843600
|
|
NM_000384.3(APOB):c.11761G>A (p.Val3921Ile)
|
|
|
NM_000384.3(APOB):c.12382G>A (p.Val4128Met)
|
|
|
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
|
|
|
NM_000384.3(APOB):c.1618-13del
|
rs2103375691
|
|
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu)
|
|
|
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
|
|
|
NM_000384.3(APOB):c.49CTG[8] (p.Leu21_Leu22dup)
|
rs745520533
|
|
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del)
|
rs541497967
|
|
NM_000384.3(APOB):c.904+20T>A
|
rs2103381847
|
|
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
|
|
|
NM_000393.5(COL5A2):c.1404T>C (p.Gly468=)
|
rs1686161677
|
|
NM_000393.5(COL5A2):c.2867G>A (p.Arg956Gln)
|
|
|
NM_000393.5(COL5A2):c.3309+6G>T
|
rs775681859
|
|
NM_000393.5(COL5A2):c.3309+7A>G
|
rs1553513652
|
|
NM_000393.5(COL5A2):c.3348G>A (p.Gly1116=)
|
rs1553513577
|
|
NM_000393.5(COL5A2):c.4114-18_4114-17del
|
rs1440458273
|
|
NM_000393.5(COL5A2):c.4200C>T (p.Asn1400=)
|
rs979486002
|
|
NM_000393.5(COL5A2):c.744+19T>C
|
|
|
NM_000393.5(COL5A2):c.961-3del
|
rs542134887
|
|
NM_000398.7(CYB5R3):c.21+4921G>C
|
|
|
NM_000398.7(CYB5R3):c.548-17G>A
|
|
|
NM_000414.4(HSD17B4):c.666C>T (p.Val222=)
|
rs150677536
|
|
NM_000431.4(MVK):c.450G>C (p.Ser150=)
|
rs201123232
|
|
NM_000435.3(NOTCH3):c.1493-13C>T
|
rs981235130
|
|
NM_000435.3(NOTCH3):c.1607-14T>C
|
|
|
NM_000435.3(NOTCH3):c.197+8C>T
|
|
|
NM_000435.3(NOTCH3):c.2739G>A (p.Pro913=)
|
rs763718957
|
|
NM_000435.3(NOTCH3):c.4736+23G>C
|
rs1599374263
|
|
NM_000435.3(NOTCH3):c.867T>C (p.Gly289=)
|
|
|
NM_000440.3(PDE6A):c.2242C>T (p.Leu748=)
|
rs963290822
|
|
NM_000441.2(SLC26A4):c.39C>A (p.Leu13=)
|
rs1562817215
|
|
NM_000458.4(HNF1B):c.1535-15A>T
|
|
|
NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys)
|
|
|
NM_000459.5(TEK):c.2880T>C (p.Phe960=)
|
rs1554701677
|
|
NM_000463.3(UGT1A1):c.1491C>T (p.Ala497=)
|
|
|
NM_000463.3(UGT1A1):c.57G>A (p.Val19=)
|
|
|
NM_000463.3(UGT1A1):c.741A>G (p.Leu247=)
|
|
|
NM_000465.4(BARD1):c.117C>T (p.Ala39=)
|
rs786202271
|
|
NM_000476.3(AK1):c.153G>A (p.Ser51=)
|
|
|
NM_000476.3(AK1):c.516+11C>T
|
rs115263629
|
|
NM_000476.3(AK1):c.522C>T (p.Asn174=)
|
rs150064330
|
|
NM_000476.3(AK1):c.8-321C>T
|
|
|
NM_000478.6(ALPL):c.1190-15C>A
|
rs1644739262
|
|
NM_000478.6(ALPL):c.534C>T (p.Tyr178=)
|
rs201250289
|
|
NM_000484.4(APP):c.355+11C>T
|
|
|
NM_000484.4(APP):c.865+9C>T
|
|
|
NM_000492.4(CFTR):c.-9C>T
|
rs1189053240
|
|
NM_000492.4(CFTR):c.1116+32T>C
|
rs138990074
|
|
NM_000492.4(CFTR):c.1116+35T>C
|
rs1584789546
|
|
NM_000492.4(CFTR):c.1210-3C>T
|
|
|
NM_000492.4(CFTR):c.1210-6T>A
|
rs763339686
|
|
NM_000492.4(CFTR):c.1392+15C>G
|
|
|
NM_000492.4(CFTR):c.1467A>G (p.Ser489=)
|
rs1799419729
|
|
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile)
|
rs1800097
|
|
NM_000492.4(CFTR):c.1767-9A>G
|
rs1223678085
|
|
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)
|
rs1800076
|
|
NM_000492.4(CFTR):c.3368-30G>C
|
rs1584824127
|
|
NM_000492.4(CFTR):c.3718-15A>C
|
|
|
NM_000492.4(CFTR):c.3874-27TTC[2]
|
rs397508623
|
|
NM_000492.4(CFTR):c.744-33GATT[5]
|
rs1805171
|
|
NM_000492.4(CFTR):c.744-34_744-31del
|
rs768226435
|
|
NM_000492.4(CFTR):c.960A>G (p.Leu320=)
|
rs56093012
|
|
NM_000517.4(HBA2):c.49A>G (p.Lys17Glu)
|
rs281865555
|
|
NM_000517.5(HBA2):c.-41C>G
|
rs1188584832
|
|
NM_000517.6(HBA2):c.*25C>T
|
rs1462495649
|
|
NM_000517.6(HBA2):c.*8C>T
|
|
|
NM_000517.6(HBA2):c.148A>C (p.Ser50Arg)
|
rs1596569718
|
|
NM_000517.6(HBA2):c.151C>G (p.His51Asp)
|
rs41461652
|
|
NM_000517.6(HBA2):c.154G>C (p.Gly52Arg)
|
rs281864837
|
|
NM_000517.6(HBA2):c.164A>G (p.Gln55Arg)
|
rs281864839
|
|
NM_000517.6(HBA2):c.215C>A (p.Ala72Glu)
|
rs281864853
|
|
NM_000517.6(HBA2):c.222G>T (p.Val74=)
|
rs2142018022
|
|
NM_000517.6(HBA2):c.226G>A (p.Asp76Asn)
|
rs281864858
|
|
NM_000517.6(HBA2):c.22A>G (p.Lys8Glu)
|
rs34817956
|
|
NM_000517.6(HBA2):c.257A>T (p.Asp86Val)
|
rs41331747
|
|
NM_000517.6(HBA2):c.266C>G (p.Ala89Gly)
|
rs33983416
|
|
NM_000517.6(HBA2):c.271A>G (p.Lys91Glu)
|
rs63750093
|
|
NM_000517.6(HBA2):c.273G>C (p.Lys91Asn)
|
|
|
NM_000517.6(HBA2):c.273G>T (p.Lys91Asn)
|
|
|
NM_000517.6(HBA2):c.300G>T (p.Lys100Asn)
|
rs281864555
|
|
NM_000517.6(HBA2):c.309C>A (p.Ser103Arg)
|
rs41344646
|
|
NM_000517.6(HBA2):c.344C>T (p.Pro115Leu)
|
rs267607269
|
|
NM_000517.6(HBA2):c.349G>A (p.Glu117Lys)
|
rs33987053
|
|
NM_000517.6(HBA2):c.383A>C (p.Lys128Thr)
|
rs35431217
|
|
NM_000517.6(HBA2):c.38C>A (p.Ala13Asp)
|
rs281864809
|
|
NM_000517.6(HBA2):c.402C>T (p.Ser134=)
|
rs41514946
|
|
NM_000517.6(HBA2):c.40G>C (p.Ala14Pro)
|
rs281860609
|
|
NM_000517.6(HBA2):c.45G>C (p.Trp15Cys)
|
rs63750367
|
|
NM_000517.6(HBA2):c.55G>C (p.Gly19Arg)
|
rs63750294
|
|
NM_000517.6(HBA2):c.8T>G (p.Leu3Arg)
|
|
|
NM_000517.6(HBA2):c.95+11_95+34del
|
rs1445188229
|
|
NM_000517.6(HBA2):c.96-5C>T
|
|
|
NM_000518.4(HBB):c.142G>A (p.Asp48Asn)
|
rs33932070
|
|
NM_000518.4(HBB):c.232C>G (p.His78Asp)
|
rs33991294
|
|
NM_000518.4(HBB):c.238G>T (p.Asp80Tyr)
|
rs33990858
|
|
NM_000518.4(HBB):c.29C>G (p.Ser10Cys)
|
rs33918131
|
|
NM_000518.4(HBB):c.67G>C (p.Glu23Gln)
|
rs33959855
|
|
NM_000518.4(HBB):c.68A>G (p.Glu23Gly)
|
rs33936254
|
|
NM_000518.4(HBB):c.8A>G (p.His3Arg)
|
rs33983205
|
|
NM_000518.5(HBB):c.*56A>G
|
rs537944366
|
|
NM_000518.5(HBB):c.10C>G (p.Leu4Val)
|
rs34126315
|
|
NM_000518.5(HBB):c.140G>A (p.Gly47Glu)
|
rs35303218
|
|
NM_000518.5(HBB):c.16C>G (p.Pro6Ala)
|
rs33912272
|
|
NM_000518.5(HBB):c.186G>C (p.Lys62Asn)
|
rs34446260
|
|
NM_000518.5(HBB):c.251G>A (p.Gly84Asp)
|
rs1803195
|
|
NM_000518.5(HBB):c.314G>C (p.Arg105Thr)
|
rs33911434
|
|
NM_000518.5(HBB):c.315+10T>G
|
rs2133587695
|
|
NM_000518.5(HBB):c.316-198G>A
|
rs547258651
|
|
NM_000518.5(HBB):c.334G>C (p.Val112Leu)
|
rs33957964
|
|
NM_000518.5(HBB):c.394C>A (p.Gln132Lys)
|
rs33910209
|
|
NM_000518.5(HBB):c.394C>G (p.Gln132Glu)
|
rs33910209
|
|
NM_000518.5(HBB):c.397A>C (p.Lys133Gln)
|
rs33953406
|
|
NM_000518.5(HBB):c.402G>C (p.Val134=)
|
rs113082294
|
|
NM_000518.5(HBB):c.420T>A (p.Asn140Lys)
|
rs34240441
|
|
NM_000518.5(HBB):c.5T>C (p.Val2Ala)
|
rs33949930
|
|
NM_000518.5(HBB):c.60C>A (p.Asn20Lys)
|
rs63750840
|
|
NM_000518.5(HBB):c.84C>T (p.Ala28=)
|
rs748296717
|
|
NM_000518.5(HBB):c.9T>A (p.His3Gln)
|
rs713040
|
|
NM_000520.6(HEXA):c.1330+20C>T
|
|
|
NM_000527.5(LDLR):c.1836C>T (p.Ala612=)
|
rs143872778
|
|
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
|
|
|
NM_000535.7(PMS2):c.1185C>T (p.Pro395=)
|
rs1562636721
|
|
NM_000535.7(PMS2):c.2276-19C>A
|
|
|
NM_000545.8(HNF1A):c.1624-39C>G
|
|
|
NM_000546.6(TP53):c.558T>C (p.Asp186=)
|
rs375275361
|
|
NM_000548.5(TSC2):c.3611-11C>T
|
rs375617364
|
|
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg)
|
rs587778732
|
|
NM_000548.5(TSC2):c.4780C>T (p.Leu1594=)
|
rs45511204
|
|
NM_000548.5(TSC2):c.482-20T>A
|
rs548831116
|
|
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg)
|
rs45514196
|
|
NM_000548.5(TSC2):c.5094C>T (p.Ser1698=)
|
rs45514196
|
|
NM_000548.5(TSC2):c.975+15G>T
|
rs753334357
|
|
NM_000552.5(VWF):c.1083C>T (p.Thr361=)
|
|
|
NM_000552.5(VWF):c.1755G>A (p.Ala585=)
|
|
|
NM_000552.5(VWF):c.2187-30G>C
|
rs1591882446
|
|
NM_000552.5(VWF):c.3692A>C (p.Asn1231Thr)
|
rs61749368
|
|
NM_000552.5(VWF):c.6901+14C>T
|
|
|
NM_000552.5(VWF):c.7987-13T>C
|
|
|
NM_000552.5(VWF):c.8295C>T (p.Asn2765=)
|
|
|
NM_000554.6(CRX):c.-29T>A
|
rs1568624071
|
|
NM_000557.5(GDF5):c.543C>T (p.Ser181=)
|
rs754016979
|
|
NM_000558.3(HBA1):c.154G>C (p.Gly52Arg)
|
rs33960522
|
|
NM_000558.3(HBA1):c.226G>T (p.Asp76Tyr)
|
rs33977363
|
|
NM_000558.3(HBA1):c.270C>G (p.His90Gln)
|
rs1061009
|
|
NM_000558.3(HBA1):c.272A>C (p.Lys91Thr)
|
rs33911106
|
|
NM_000558.3(HBA1):c.349G>A (p.Glu117Lys)
|
rs63749882
|
|
NM_000558.3(HBA1):c.49A>G (p.Lys17Glu)
|
rs41407250
|
|
NM_000558.4(HBA1):c.-52C>T
|
rs1276035978
|
|
NM_000558.5(HBA1):c.223G>C (p.Asp75His)
|
rs28928875
|
|
NM_000558.5(HBA1):c.24G>C (p.Lys8Asn)
|
rs34410516
|
|
NM_000558.5(HBA1):c.273G>C (p.Lys91Asn)
|
rs33914470
|
|
NM_000558.5(HBA1):c.309C>A (p.Ser103Arg)
|
rs34098449
|
|
NM_000558.5(HBA1):c.350A>C (p.Glu117Ala)
|
rs35932809
|
|
NM_000558.5(HBA1):c.397G>A (p.Val133Met)
|
|
|
NM_000558.5(HBA1):c.417C>G (p.Ser139=)
|
|
|
NM_000558.5(HBA1):c.47G>A (p.Gly16Asp)
|
rs281865560
|
|
NM_000558.5(HBA1):c.84G>T (p.Glu28Asp)
|
rs41530750
|
|
NM_000558.5(HBA1):c.91G>A (p.Glu31Lys)
|
rs33993166
|
|
NM_000558.5(HBA1):c.95+9C>T
|
|
|
NM_000559.2(HBG1):c.119A>G (p.Gln40Arg)
|
rs35977759
|
|
NM_000559.2(HBG1):c.122G>A (p.Arg41Lys)
|
rs33974602
|
|
NM_000559.3(HBG1):c.217G>A (p.Gly73Arg)
|
rs34049890
|
|
NM_000559.3(HBG1):c.76G>A (p.Gly26Arg)
|
rs35957832
|
|
NM_000637.5(GSR):c.531G>T (p.Thr177=)
|
rs147119692
|
|
NM_000642.3(AGL):c.1284-16A>G
|
|
|
NM_000642.3(AGL):c.1319C>T (p.Ser440Phe)
|
rs149771710
|
|
NM_000642.3(AGL):c.2158-18_2158-16del
|
rs770934299
|
|
NM_000719.7(CACNA1C):c.1218-6C>T
|
rs727503833
|
|
NM_000719.7(CACNA1C):c.4726+13G>A
|
rs561365937
|
|
NM_000942.5(PPIB):c.580C>T (p.Leu194=)
|
|
|
NM_000942.5(PPIB):c.615C>T (p.Ile205=)
|
rs1596027267
|
|
NM_001002010.5(NT5C3A):c.129C>A (p.Ile43=)
|
|
|
NM_001002010.5(NT5C3A):c.21G>A (p.Ala7=)
|
|
|
NM_001002010.5(NT5C3A):c.354+17A>G
|
|
|
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro)
|
rs200586695
|
|
NM_001005361.3(DNM2):c.2589A>C (p.Pro863=)
|
rs1555717448
|
|
NM_001005373.4(LRSAM1):c.72+10del
|
rs1554753226
|
|
NM_001006658.3(CR2):c.2646T>C (p.Asn882=)
|
rs1658400318
|
|
NM_001006658.3(CR2):c.3189-8_3189-7del
|
rs112859639
|
|
NM_001006658.3(CR2):c.524C>T (p.Pro175Leu)
|
rs75282758
|
|
NM_001009944.3(PKD1):c.1097C>G (p.Ser366Trp)
|
rs752356523
|
|
NM_001009944.3(PKD1):c.11099G>A (p.Arg3700His)
|
rs141668965
|
|
NM_001009944.3(PKD1):c.11304C>T (p.His3768=)
|
rs1596482936
|
|
NM_001009944.3(PKD1):c.12237C>T (p.Ser4079=)
|
rs372534935
|
|
NM_001009944.3(PKD1):c.2870T>C (p.Val957Ala)
|
rs1555457473
|
|
NM_001009944.3(PKD1):c.2933A>G (p.Gln978Arg)
|
rs1555457445
|
|
NM_001009944.3(PKD1):c.2967G>A (p.Ala989=)
|
rs1324429294
|
|
NM_001009944.3(PKD1):c.45G>C (p.Leu15=)
|
rs1208066805
|
|
NM_001009944.3(PKD1):c.5882C>T (p.Ala1961Val)
|
rs375440448
|
|
NM_001009944.3(PKD1):c.6621C>G (p.Pro2207=)
|
rs575553075
|
|
NM_001009944.3(PKD1):c.6792A>C (p.Ser2264=)
|
rs142928249
|
|
NM_001009944.3(PKD1):c.6915+27A>C
|
rs560681737
|
|
NM_001009944.3(PKD1):c.7280C>T (p.Ala2427Val)
|
rs140494005
|
|
NM_001009944.3(PKD1):c.8161+40G>A
|
rs2092255350
|
|
NM_001009944.3(PKD1):c.8204A>T (p.Gln2735Leu)
|
rs141717814
|
|
NM_001009944.3(PKD1):c.9582C>T (p.Ala3194=)
|
rs1399957695
|
|
NM_001009944.3(PKD1):c.9712+40G>A
|
rs2092031694
|
|
NM_001009944.3(PKD1):c.9924-9_9924-7del
|
rs892390487
|
|
NM_001013703.4(EIF2AK4):c.2025G>A (p.Leu675=)
|
rs1237677524
|
|
NM_001013703.4(EIF2AK4):c.2249+15C>A
|
rs367692390
|
|
NM_001013703.4(EIF2AK4):c.3378G>A (p.Val1126=)
|
|
|
NM_001029883.3(PCARE):c.2697C>T (p.Ser899=)
|
rs1558488488
|
|
NM_001032221.6(STXBP1):c.87+19T>C
|
|
|
NM_001032386.2(SUOX):c.1335C>T (p.Ile445=)
|
rs200569559
|
|
NM_001033855.3(DCLRE1C):c.918-14del
|
rs1333161578
|
|
NM_001035.3(RYR2):c.10838+3C>T
|
rs1417807379
|
|
NM_001035.3(RYR2):c.1293-18G>A
|
rs1572400333
|
|
NM_001035.3(RYR2):c.7161G>A (p.Ala2387=)
|
rs371560909
|
|
NM_001035.3(RYR2):c.9318T>A (p.Ser3106=)
|
rs2797436
|
|
NM_001037.5(SCN1B):c.207+19C>T
|
rs201872896
|
|
NM_001037333.3(CYFIP2):c.1524-9C>T
|
|
|
NM_001039141.3(TRIOBP):c.6472+14_6472+15insC
|
rs546389039
|
|
NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln)
|
rs111588143
|
|
NM_001042492.3(NF1):c.1261-30T>G
|
rs1232901516
|
|
NM_001042492.3(NF1):c.1429T>C (p.Phe477Leu)
|
rs1555612276
|
|
NM_001042492.3(NF1):c.1845+17_1845+18del
|
rs765979407
|
|
NM_001042492.3(NF1):c.2085G>A (p.Leu695=)
|
rs1060503889
|
|
NM_001042492.3(NF1):c.2514C>T (p.Ile838=)
|
rs863224352
|
|
NM_001042492.3(NF1):c.5812+333T>C
|
|
|
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=)
|
rs121908380
|
|
NM_001065.4(TNFRSF1A):c.194-18_194-17del
|
rs104895267
|
|
NM_001065.4(TNFRSF1A):c.552-16C>A
|
rs1592045411
|
|
NM_001072.4(UGT1A6):c.18_19delinsTG (p.Ser7Ala)
|
|
|
NM_001081.4(CUBN):c.1530+14C>A
|
|
|
NM_001083603.3(PTCH1):c.198+165C>T
|
|
|
NM_001084.5(PLOD3):c.1006-5C>T
|
rs1554378150
|
|
NM_001084.5(PLOD3):c.1209G>A (p.Leu403=)
|
rs752918458
|
|
NM_001105206.3(LAMA4):c.4869C>T (p.Leu1623=)
|
rs1554324509
|
|
NM_001109809.5(ZFP57):c.352+15G>T
|
|
|
NM_001110556.2(FLNA):c.1050G>C (p.Val350=)
|
rs2148118238
|
|
NM_001110556.2(FLNA):c.2566-15_2566-13del
|
rs2148114279
|
|
NM_001110556.2(FLNA):c.3429C>G (p.Thr1143=)
|
rs183899917
|
|
NM_001110556.2(FLNA):c.4119C>T (p.Pro1373=)
|
rs2067688016
|
|
NM_001110556.2(FLNA):c.4475-7G>C
|
rs1557177326
|
|
NM_001110556.2(FLNA):c.4599-3C>T
|
|
|
NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=)
|
rs201904661
|
|
NM_001110556.2(FLNA):c.5217+13G>T
|
rs370737630
|
|
NM_001110556.2(FLNA):c.5557+19T>G
|
rs2067644148
|
|
NM_001110556.2(FLNA):c.5610C>T (p.Ala1870=)
|
rs782040591
|
|
NM_001110556.2(FLNA):c.6090G>A (p.Val2030=)
|
rs2148105105
|
|
NM_001110556.2(FLNA):c.6380-10C>T
|
rs2067629189
|
|
NM_001110556.2(FLNA):c.6502+7G>A
|
rs782202978
|
|
NM_001110556.2(FLNA):c.7584C>T (p.His2528=)
|
rs201883808
|
|
NM_001110556.2(FLNA):c.7812C>T (p.Ile2604=)
|
rs1603358271
|
|
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr)
|
rs61753973
|
|
NM_001114134.2(EPB42):c.1619-19C>T
|
|
|
NM_001114134.2(EPB42):c.550-37_550-12dup
|
rs368862301
|
|
NM_001114753.3(ENG):c.1290G>T (p.Leu430=)
|
rs377321205
|
|
NM_001114753.3(ENG):c.1852+36G>T
|
rs1588572388
|
|
NM_001114753.3(ENG):c.1853-14GCTCCC[3]
|
rs373296026
|
|
NM_001114753.3(ENG):c.1977G>A (p.Ter659=)
|
rs1337723089
|
|
NM_001114753.3(ENG):c.618C>A (p.Gly206=)
|
rs1830599217
|
|
NM_001127511.3(APC):c.166-28523C>T
|
|
|
NM_001127671.2(LIFR):c.33A>G (p.Pro11=)
|
|
|
NM_001130823.3(DNMT1):c.4608C>T (p.Asp1536=)
|
rs761534071
|
|
NM_001134363.3(RBM20):c.1527+9G>A
|
rs1057521554
|
|
NM_001136472.2(LITAF):c.429C>T (p.Asp143=)
|
|
|
NM_001142864.4(PIEZO1):c.112C>T (p.Leu38=)
|
|
|
NM_001142864.4(PIEZO1):c.1152C>T (p.Ile384=)
|
|
|
NM_001142864.4(PIEZO1):c.1211C>T (p.Ala404Val)
|
|
|
NM_001142864.4(PIEZO1):c.1296+13G>T
|
rs143301625
|
|
NM_001142864.4(PIEZO1):c.1314C>T (p.Tyr438=)
|
|
|
NM_001142864.4(PIEZO1):c.1428G>A (p.Thr476=)
|
|
|
NM_001142864.4(PIEZO1):c.1641G>A (p.Ala547=)
|
rs538102347
|
|
NM_001142864.4(PIEZO1):c.1848+15G>A
|
|
|
NM_001142864.4(PIEZO1):c.1917G>C (p.Leu639=)
|
|
|
NM_001142864.4(PIEZO1):c.2180+11G>A
|
|
|
NM_001142864.4(PIEZO1):c.2247GGA[6] (p.Glu755_Glu756del)
|
rs59446030
|
|
NM_001142864.4(PIEZO1):c.2247GGA[9] (p.Glu756dup)
|
rs59446030
|
|
NM_001142864.4(PIEZO1):c.2248G>C (p.Glu750Gln)
|
|
|
NM_001142864.4(PIEZO1):c.2460G>A (p.Leu820=)
|
|
|
NM_001142864.4(PIEZO1):c.2661C>T (p.Thr887=)
|
|
|
NM_001142864.4(PIEZO1):c.284-15C>G
|
|
|
NM_001142864.4(PIEZO1):c.2946C>T (p.Cys982=)
|
|
|
NM_001142864.4(PIEZO1):c.2982C>G (p.Phe994Leu)
|
rs374262841
|
|
NM_001142864.4(PIEZO1):c.2982C>T (p.Phe994=)
|
rs374262841
|
|
NM_001142864.4(PIEZO1):c.2991+15T>C
|
|
|
NM_001142864.4(PIEZO1):c.2992-13_2992-12insCCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACG
|
rs752967733
|
|
NM_001142864.4(PIEZO1):c.3048C>A (p.Thr1016=)
|
|
|
NM_001142864.4(PIEZO1):c.3196+12G>A
|
|
|
NM_001142864.4(PIEZO1):c.3324C>T (p.Cys1108=)
|
|
|
NM_001142864.4(PIEZO1):c.3501C>T (p.Phe1167=)
|
|
|
NM_001142864.4(PIEZO1):c.3626G>A (p.Arg1209Gln)
|
|
|
NM_001142864.4(PIEZO1):c.3672C>T (p.Thr1224=)
|
rs551750587
|
|
NM_001142864.4(PIEZO1):c.3699+20G>C
|
rs4424896
|
|
NM_001142864.4(PIEZO1):c.3700-18_3700-17insCCCCGCTGGCCCCGCTGA
|
|
|
NM_001142864.4(PIEZO1):c.375C>T (p.Asp125=)
|
rs753335111
|
|
NM_001142864.4(PIEZO1):c.3864C>T (p.Asp1288=)
|
|
|
NM_001142864.4(PIEZO1):c.4041G>A (p.Leu1347=)
|
|
|
NM_001142864.4(PIEZO1):c.4163-3C>T
|
rs1315355781
|
|
NM_001142864.4(PIEZO1):c.4212G>C (p.Arg1404=)
|
|
|
NM_001142864.4(PIEZO1):c.4215C>G (p.Pro1405=)
|
|
|
NM_001142864.4(PIEZO1):c.4284G>A (p.Glu1428=)
|
rs1372151973
|
|
NM_001142864.4(PIEZO1):c.4316C>T (p.Ser1439Leu)
|
|
|
NM_001142864.4(PIEZO1):c.4620C>T (p.Ser1540=)
|
|
|
NM_001142864.4(PIEZO1):c.466-16T>C
|
|
|
NM_001142864.4(PIEZO1):c.4775+17C>T
|
|
|
NM_001142864.4(PIEZO1):c.4785C>T (p.Gly1595=)
|
|
|
NM_001142864.4(PIEZO1):c.4955+16G>T
|
|
|
NM_001142864.4(PIEZO1):c.4955+19C>G
|
|
|
NM_001142864.4(PIEZO1):c.4998G>A (p.Ala1666=)
|
|
|
NM_001142864.4(PIEZO1):c.5139C>T (p.Leu1713=)
|
rs369279313
|
|
NM_001142864.4(PIEZO1):c.5214+16G>T
|
|
|
NM_001142864.4(PIEZO1):c.5340C>T (p.Asp1780=)
|
rs372159659
|
|
NM_001142864.4(PIEZO1):c.5393C>T (p.Ser1798Phe)
|
|
|
NM_001142864.4(PIEZO1):c.5475G>A (p.Gln1825=)
|
|
|
NM_001142864.4(PIEZO1):c.5515G>A (p.Glu1839Lys)
|
rs77170706
|
|
NM_001142864.4(PIEZO1):c.5598G>A (p.Thr1866=)
|
|
|
NM_001142864.4(PIEZO1):c.5636A>G (p.Glu1879Gly)
|
|
|
NM_001142864.4(PIEZO1):c.5706G>A (p.Glu1902=)
|
|
|
NM_001142864.4(PIEZO1):c.5743C>A (p.Arg1915Ser)
|
rs13338527
|
|
NM_001142864.4(PIEZO1):c.5778G>A (p.Arg1926=)
|
|
|
NM_001142864.4(PIEZO1):c.5920A>G (p.Ile1974Val)
|
|
|
NM_001142864.4(PIEZO1):c.5934C>T (p.Gly1978=)
|
rs760875854
|
|
NM_001142864.4(PIEZO1):c.5991C>T (p.Asp1997=)
|
|
|
NM_001142864.4(PIEZO1):c.6108G>T (p.Ala2036=)
|
|
|
NM_001142864.4(PIEZO1):c.64+7G>C
|
|
|
NM_001142864.4(PIEZO1):c.6494AGA[4] (p.Lys2169del)
|
rs763477215
|
|
NM_001142864.4(PIEZO1):c.6519C>T (p.Tyr2173=)
|
|
|
NM_001142864.4(PIEZO1):c.6886A>C (p.Thr2296Pro)
|
|
|
NM_001142864.4(PIEZO1):c.6927-19G>A
|
|
|
NM_001142864.4(PIEZO1):c.7368C>T (p.Arg2456=)
|
|
|
NM_001145809.2(MYH14):c.6096A>C (p.Pro2032=)
|
rs2036794131
|
|
NM_001148.6(ANK2):c.1326C>T (p.Gly442=)
|
rs1586382649
|
|
NM_001148.6(ANK2):c.3471C>T (p.Ile1157=)
|
rs1157298737
|
|
NM_001148.6(ANK2):c.9039A>C (p.Ser3013=)
|
|
|
NM_001159699.2(FHL1):c.737-8C>G
|
|
|
NM_001177316.2(SLC34A3):c.195_215del (p.Arg65_Gly71del)
|
rs532224704
|
|
NM_001184.4(ATR):c.151+9C>T
|
rs765495429
|
|
NM_001191061.2(SLC25A22):c.141G>A (p.Thr47=)
|
rs781681487
|
|
NM_001199397.3(NEK1):c.3374+9A>G
|
|
|
NM_001204.7(BMPR2):c.1659A>G (p.Glu553=)
|
rs1688545784
|
|
NM_001204.7(BMPR2):c.2577T>C (p.Asn859=)
|
rs1236150964
|
|
NM_001204.7(BMPR2):c.621+37C>G
|
rs78779412
|
|
NM_001235.5(SERPINH1):c.954+15_954+18dup
|
|
|
NM_001243133.2(NLRP3):c.1011G>A (p.Lys337=)
|
rs766978634
|
|
NM_001243133.2(NLRP3):c.195G>A (p.Ala65=)
|
rs201205620
|
|
NM_001243133.2(NLRP3):c.2343G>T (p.Ser781=)
|
rs764753476
|
|
NM_001243133.2(NLRP3):c.51T>C (p.Asp17=)
|
rs1572151908
|
|
NM_001243177.4(ALDOA):c.684T>C (p.Tyr228=)
|
rs1596813728
|
|
NM_001243177.4(ALDOA):c.966C>T (p.Ile322=)
|
|
|
NM_001244008.2(KIF1A):c.1038-4C>G
|
|
|
NM_001244008.2(KIF1A):c.1208-43C>T
|
|
|
NM_001244008.2(KIF1A):c.183+16G>C
|
|
|
NM_001244008.2(KIF1A):c.204G>T (p.Ala68=)
|
rs141052770
|
|
NM_001244008.2(KIF1A):c.882+6C>G
|
rs1290737564
|
|
NM_001256317.3(TMPRSS3):c.497G>T (p.Arg166Leu)
|
rs150397427
|
|
NM_001256715.2(DNAAF3):c.1163+10G>T
|
rs200324983
|
|
NM_001256715.2(DNAAF3):c.837G>A (p.Thr279=)
|
|
|
NM_001256715.2(DNAAF3):c.918C>T (p.Ala306=)
|
|
|
NM_001267550.2(TTN):c.100172-10del
|
rs397517782
|
|
NM_001267550.2(TTN):c.101415T>G (p.Thr33805=)
|
rs763434134
|
|
NM_001267550.2(TTN):c.11712T>C (p.Ser3904=)
|
rs553478382
|
|
NM_001267550.2(TTN):c.15367T>C (p.Leu5123=)
|
rs571195235
|
|
NM_001267550.2(TTN):c.26643C>T (p.Phe8881=)
|
rs982955034
|
|
NM_001267550.2(TTN):c.2775+19G>T
|
rs199707799
|
|
NM_001267550.2(TTN):c.29938G>A (p.Ala9980Thr)
|
rs189286381
|
|
NM_001267550.2(TTN):c.39965C>G (p.Ala13322Gly)
|
rs552545514
|
|
NM_001267550.2(TTN):c.60490G>C (p.Val20164Leu)
|
rs72646843
|
|
NM_001267550.2(TTN):c.61206C>T (p.Pro20402=)
|
rs1559582385
|
|
NM_001267550.2(TTN):c.62355C>T (p.Asp20785=)
|
rs766020138
|
|
NM_001267550.2(TTN):c.67620G>A (p.Val22540=)
|
|
|
NM_001267550.2(TTN):c.68365T>C (p.Leu22789=)
|
rs933098534
|
|
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu)
|
rs372799151
|
|
NM_001267550.2(TTN):c.7020C>T (p.Ile2340=)
|
rs587780986
|
|
NM_001267550.2(TTN):c.71883T>G (p.Val23961=)
|
|
|
NM_001267550.2(TTN):c.9618T>C (p.Phe3206=)
|
rs878971586
|
|
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His)
|
rs55704830
|
|
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro)
|
rs55704830
|
|
NM_001267550.2(TTN):c.98340A>G (p.Lys32780=)
|
rs1012677538
|
|
NM_001270508.2(TNFAIP3):c.291G>A (p.Thr97=)
|
|
|
NM_001277115.2(DNAH11):c.6273+9A>G
|
rs192777767
|
|
NM_001291303.3(FAT4):c.739C>A (p.Pro247Thr)
|
rs191329848
|
|
NM_001291415.2(KDM6A):c.1874C>T (p.Ser625Phe)
|
rs765545282
|
|
NM_001297.5(CNGB1):c.2853C>A (p.Asp951Glu)
|
rs7190978
|
|
NM_001303256.3(MORC2):c.1214+18A>G
|
rs2040682380
|
|
NM_001308147.2(PLEKHG3):c.*5935G>C
|
|
|
NM_001354741.2(PFKM):c.-81+1966C>T
|
|
|
NM_001355436.2(SPTB):c.1004C>T (p.Thr335Met)
|
|
|
NM_001355436.2(SPTB):c.1425G>A (p.Glu475=)
|
|
|
NM_001355436.2(SPTB):c.1441C>T (p.Leu481=)
|
|
|
NM_001355436.2(SPTB):c.1523G>A (p.Arg508His)
|
|
|
NM_001355436.2(SPTB):c.228C>G (p.Thr76=)
|
rs748108358
|
|
NM_001355436.2(SPTB):c.2499G>A (p.Val833=)
|
|
|
NM_001355436.2(SPTB):c.2696C>T (p.Thr899Ile)
|
|
|
NM_001355436.2(SPTB):c.3778A>T (p.Asn1260Tyr)
|
|
|
NM_001355436.2(SPTB):c.4278C>T (p.Asp1426=)
|
|
|
NM_001355436.2(SPTB):c.475-5C>T
|
|
|
NM_001355436.2(SPTB):c.5937+7G>A
|
|
|
NM_001355436.2(SPTB):c.6346-4G>C
|
|
|
NM_001355436.2(SPTB):c.6396G>C (p.Pro2132=)
|
|
|
NM_001355436.2(SPTB):c.753C>T (p.Leu251=)
|
|
|
NM_001355436.2(SPTB):c.921C>T (p.Tyr307=)
|
|
|
NM_001358263.1(HK1):c.28G>T (p.Ala10Ser)
|
|
|
NM_001358263.1(HK1):c.75+20336T>A
|
rs769395943
|
|
NM_001358263.1(HK1):c.75+22_75+23dup
|
|
|
NM_001358263.1(HK1):c.75+5173_75+5174inv
|
|
|
NM_001360.3(DHCR7):c.606C>T (p.Phe202=)
|
rs1591111340
|
|
NM_001360016.2(G6PD):c.-9+10C>T
|
rs935099185
|
|
NM_001360016.2(G6PD):c.1288-14TC[2]
|
rs199586268
|
|
NM_001360016.2(G6PD):c.318C>T (p.Ser106=)
|
rs2148331419
|
|
NM_001360016.2(G6PD):c.864+8dup
|
rs782714017
|
|
NM_001363118.2(SLC52A2):c.353C>A (p.Ala118Asp)
|
rs117500243
|
|
NM_001364905.1(LRBA):c.6424C>T (p.Leu2142=)
|
rs1438925105
|
|
NM_001365088.1(SLC12A6):c.316+6G>C
|
rs1894227805
|
|
NM_001365304.2(LOC112694756):c.*1509-16C>T
|
|
|
NM_001365951.3(KIF1B):c.2115+7116G>A
|
rs1334941848
|
|
NM_001366385.1(CARD14):c.599G>T (p.Ser200Ile)
|
rs114688446
|
|
NM_001369.3(DNAH5):c.7407+4A>C
|
|
|
NM_001370259.2(MEN1):c.1170G>C (p.Pro390=)
|
rs587780841
|
|
NM_001370259.2(MEN1):c.913-4C>T
|
rs770413697
|
|
NM_001370298.3(FGD4):c.1543+17dup
|
rs548627916
|
|
NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr)
|
rs144693221
|
|
NM_001370298.3(FGD4):c.504-20C>G
|
rs1592293275
|
|
NM_001370466.1(NOD2):c.1434G>A (p.Gly478=)
|
rs769034739
|
|
NM_001370466.1(NOD2):c.2550-16_2550-15del
|
rs762600414
|
|
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg)
|
rs2066845
|
|
NM_001370466.1(NOD2):c.309A>G (p.Pro103=)
|
rs2150782456
|
|
NM_001371279.1(REEP1):c.784-18_784-15del
|
rs760605373
|
|
NM_001375808.2(LPIN2):c.1169-7del
|
rs746626720
|
|
NM_001375808.2(LPIN2):c.1169-7dup
|
rs746626720
|
|
NM_001375808.2(LPIN2):c.1356A>G (p.Ala452=)
|
rs2144161943
|
|
NM_001375808.2(LPIN2):c.1710+16G>A
|
rs2077155215
|
|
NM_001375808.2(LPIN2):c.1716A>G (p.Pro572=)
|
rs2077138820
|
|
NM_001375808.2(LPIN2):c.698+20_698+22del
|
rs778249776
|
|
NM_001375808.2(LPIN2):c.840A>G (p.Arg280=)
|
rs780138552
|
|
NM_001376.5(DYNC1H1):c.1461+10G>A
|
rs368817833
|
|
NM_001376.5(DYNC1H1):c.3015+18C>G
|
rs2749894
|
|
NM_001376.5(DYNC1H1):c.7968A>G (p.Gly2656=)
|
rs2048333565
|
|
NM_001376.5(DYNC1H1):c.9726G>A (p.Lys3242=)
|
|
|
NM_001376013.1(EPB41):c.1800C>T (p.Asp600=)
|
|
|
NM_001376013.1(EPB41):c.1930A>G (p.Ile644Val)
|
|
|
NM_001376013.1(EPB41):c.2328T>C (p.Ser776=)
|
|
|
NM_001376013.1(EPB41):c.426C>T (p.Asp142=)
|
rs2149522654
|
|
NM_001376256.1(CRYM):c.135C>A (p.Pro45=)
|
rs1180636969
|
|
NM_001377.3(DYNC2H1):c.10042+7_10042+10del
|
rs1483149779
|
|
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.764+20T>G
|
|
|
NM_001379270.1(CNGA1):c.762G>A (p.Leu254=)
|
rs374697239
|
|
NM_001379610.1(SPINK1):c.195-15T>A
|
|
|
NM_001384140.1(PCDH15):c.92-18del
|
rs754849913
|
|
NM_001384474.1(LOXHD1):c.1788A>G (p.Thr596=)
|
rs368683058
|
|
NM_001386125.1(OBSCN):c.11041G>A (p.Gly3681Arg)
|
rs200870329
|
|
NM_001386125.1(OBSCN):c.15852G>A (p.Thr5284=)
|
rs370387618
|
|
NM_001386125.1(OBSCN):c.17582T>G (p.Phe5861Cys)
|
rs936285838
|
|
NM_001386795.1(DTNA):c.654C>A (p.Pro218=)
|
rs1478981280
|
|
NM_001395413.1(POR):c.1405G>A (p.Val469Met)
|
rs72557946
|
|
NM_001430.5(EPAS1):c.1857G>A (p.Pro619=)
|
|
|
NM_001457.4(FLNB):c.1327G>C (p.Val443Leu)
|
rs200902568
|
|
NM_001457.4(FLNB):c.2773G>T (p.Gly925Cys)
|
rs139875974
|
|
NM_001457.4(FLNB):c.3163G>A (p.Val1055Met)
|
rs9813235
|
|
NM_001457.4(FLNB):c.4191T>G (p.Val1397=)
|
|
|
NM_001457.4(FLNB):c.4515-24GT[4]
|
rs151085835
|
|
NM_001458.5(FLNC):c.1549+7G>A
|
|
|
NM_001458.5(FLNC):c.4301G>T (p.Arg1434Leu)
|
rs143623535
|
|
NM_001458.5(FLNC):c.5042C>G (p.Thr1681Arg)
|
rs193159707
|
|
NM_001498.4(GCLC):c.-29AGG[4]
|
rs3830798
|
|
NM_001498.4(GCLC):c.-34C>T
|
|
|
NM_001498.4(GCLC):c.1395+7A>G
|
|
|
NM_001498.4(GCLC):c.1581+8G>A
|
|
|
NM_001498.4(GCLC):c.330C>T (p.Tyr110=)
|
|
|
NM_001498.4(GCLC):c.447-3T>C
|
|
|
NM_001498.4(GCLC):c.828+13T>C
|
rs2127621442
|
|
NM_001530.4(HIF1A):c.1762G>A (p.Ala588Thr)
|
|
|
NM_001530.4(HIF1A):c.774-3C>T
|
|
|
NM_001530.4(HIF1A):c.880+16G>T
|
|
|
NM_001540.5(HSPB1):c.384G>A (p.Gln128=)
|
|
|
NM_001605.3(AARS1):c.1290A>G (p.Glu430=)
|
rs1567605886
|
|
NM_001605.3(AARS1):c.2232C>T (p.Ala744=)
|
rs2152151841
|
|
NM_001605.3(AARS1):c.2287-12G>A
|
rs749357717
|
|
NM_001613.4(ACTA2):c.399C>G (p.Ala133=)
|
rs781132665
|
|
NM_001614.5(ACTG1):c.492C>T (p.Pro164=)
|
rs1207365676
|
|
NM_001614.5(ACTG1):c.985-5dup
|
rs782289893
|
|
NM_001711.6(BGN):c.909+15T>G
|
rs2089808142
|
|
NM_001715.3(BLK):c.922A>G (p.Ile308Val)
|
|
|
NM_001753.5(CAV1):c.30+16G>A
|
rs148066554
|
|
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu)
|
rs186233557
|
|
NM_001844.5(COL2A1):c.3597+17del
|
rs758237369
|
|
NM_001844.5(COL2A1):c.3648T>C (p.Pro1216=)
|
rs1938662465
|
|
NM_001844.5(COL2A1):c.85+10C>A
|
rs769941617
|
|
NM_001854.4(COL11A1):c.1792-39ATG[12]
|
rs71752747
|
|
NM_001943.5(DSG2):c.207A>G (p.Pro69=)
|
|
|
NM_001999.4(FBN2):c.1078+18A>C
|
|
|
NM_001999.4(FBN2):c.1263T>G (p.Leu421=)
|
|
|
NM_001999.4(FBN2):c.1543T>A (p.Ser515Thr)
|
rs528255772
|
|
NM_001999.4(FBN2):c.1945T>C (p.Leu649=)
|
|
|
NM_001999.4(FBN2):c.3217+19C>T
|
|
|
NM_001999.4(FBN2):c.4472-12del
|
rs758812755
|
|
NM_001999.4(FBN2):c.4472-18T>A
|
rs200285828
|
|
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile)
|
rs147157552
|
|
NM_001999.4(FBN2):c.5200+15C>T
|
rs1749988266
|
|
NM_001999.4(FBN2):c.5354-4A>G
|
rs2126840686
|
|
NM_001999.4(FBN2):c.7594+10G>A
|
rs1437523141
|
|
NM_001999.4(FBN2):c.7A>C (p.Arg3=)
|
rs1466844222
|
|
NM_002148.4(HOXD10):c.429C>T (p.Asn143=)
|
rs1222562257
|
|
NM_002230.4(JUP):c.1159-13C>T
|
rs201627219
|
|
NM_002230.4(JUP):c.2047-14C>T
|
rs116666639
|
|
NM_002234.4(KCNA5):c.1641G>T (p.Gly547=)
|
rs1278466330
|
|
NM_002296.4(LBR):c.-39G>C
|
rs553408012
|
|
NM_002296.4(LBR):c.924C>T (p.Val308=)
|
rs1558653035
|
|
NM_002335.4(LRP5):c.1801+729G>A
|
|
|
NM_002335.4(LRP5):c.4489-15C>G
|
|
|
NM_002382.5(MAX):c.172-6278_172-6277del
|
|
|
NM_002471.4(MYH6):c.3979-10C>T
|
rs28730768
|
|
NM_002471.4(MYH6):c.546G>A (p.Ala182=)
|
rs150015506
|
|
NM_002471.4(MYH6):c.898+6C>T
|
rs370158816
|
|
NM_002473.6(MYH9):c.334-17G>T
|
rs1603483869
|
|
NM_002473.6(MYH9):c.5115G>A (p.Glu1705=)
|
|
|
NM_002474.3(MYH11):c.1464C>T (p.Asn488=)
|
rs752601338
|
|
NM_002474.3(MYH11):c.2653-19C>T
|
rs1490690225
|
|
NM_002474.3(MYH11):c.3420G>A (p.Gln1140=)
|
rs972414065
|
|
NM_002474.3(MYH11):c.4206G>A (p.Glu1402=)
|
rs1567699651
|
|
NM_002474.3(MYH11):c.4845A>G (p.Ala1615=)
|
|
|
NM_002474.3(MYH11):c.4953+17G>A
|
|
|
NM_002474.3(MYH11):c.5163G>T (p.Leu1721=)
|
rs777919235
|
|
NM_002474.3(MYH11):c.912C>T (p.Phe304=)
|
rs1060504022
|
|
NM_002485.5(NBN):c.1008A>T (p.Thr336=)
|
rs786201619
|
|
NM_002485.5(NBN):c.1398-10dup
|
rs587780555
|
|
NM_002485.5(NBN):c.480+4G>A
|
rs1812019530
|
|
NM_002524.5(NRAS):c.451-21_451-19del
|
rs754048062
|
|
NM_002529.4(NTRK1):c.1355-19G>C
|
rs375972171
|
|
NM_002661.5(PLCG2):c.3198+6G>A
|
rs752647511
|
|
NM_002755.4(MAP2K1):c.1068+12_1068+15del
|
rs397516788
|
|
NM_002769.5(PRSS1):c.162C>T (p.Asn54=)
|
rs148440491
|
|
NM_002769.5(PRSS1):c.360C>T (p.Asn120=)
|
rs606231348
|
|
NM_002769.5(PRSS1):c.40+15C>T
|
rs760370254
|
|
NM_002769.5(PRSS1):c.40+36C>G
|
rs200529674
|
|
NM_002769.5(PRSS1):c.40+40C>T
|
rs200159984
|
|
NM_002769.5(PRSS1):c.592-8C>A
|
rs200381474
|
|
NM_002834.5(PTPN11):c.933+25T>C
|
rs727505386
|
|
NM_002838.5(PTPRC):c.177C>G (p.Pro59=)
|
rs17612648
|
|
NM_002838.5(PTPRC):c.933T>C (p.Cys311=)
|
rs766607810
|
|
NM_002858.4(ABCD3):c.684+228G>A
|
|
|
NM_002878.4(RAD51D):c.263+1610C>T
|
|
|
NM_002880.4(RAF1):c.1668+19G>T
|
rs5746245
|
|
NM_002890.3(RASA1):c.2739G>C (p.Arg913=)
|
rs375135791
|
|
NM_002890.3(RASA1):c.71C>G (p.Ala24Gly)
|
rs1364111237
|
|
NM_002907.4(RECQL):c.395-4T>C
|
rs1294009228
|
|
NM_002972.4(SBF1):c.2799G>A (p.Thr933=)
|
rs774121119
|
|
NM_003000.2(SDHB):c.424-16_424-14dup
|
rs34261028
|
|
NM_003000.3(SDHB):c.424-37TTC[6]
|
rs34261028
|
|
NM_003001.5(SDHC):c.78-19C>A
|
rs144770080
|
|
NM_003036.4(SKI):c.1887G>A (p.Glu629=)
|
rs771953750
|
|
NM_003036.4(SKI):c.969+10C>T
|
|
|
NM_003072.5(SMARCA4):c.1944-12C>T
|
rs149763341
|
|
NM_003072.5(SMARCA4):c.2439-4T>C
|
rs1060504430
|
|
NM_003072.5(SMARCA4):c.4825C>T (p.Leu1609=)
|
rs878854232
|
|
NM_003073.5(SMARCB1):c.500+40C>T
|
|
|
NM_003073.5(SMARCB1):c.796-4_796-3del
|
rs772576999
|
|
NM_003098.3(SNTA1):c.669G>A (p.Ser223=)
|
rs199762207
|
|
NM_003114.5(SPAG1):c.2280+13_2280+16del
|
|
|
NM_003118.4(SPARC):c.*114_*115del
|
|
|
NM_003126.4(SPTA1):c.121C>A (p.Arg41=)
|
rs121918640
|
|
NM_003126.4(SPTA1):c.2160C>T (p.Ala720=)
|
rs199815523
|
|
NM_003126.4(SPTA1):c.2899-14C>T
|
|
|
NM_003126.4(SPTA1):c.3720C>T (p.Thr1240=)
|
|
|
NM_003126.4(SPTA1):c.390+9A>G
|
|
|
NM_003126.4(SPTA1):c.3997-5C>T
|
|
|
NM_003126.4(SPTA1):c.4833G>A (p.Arg1611=)
|
rs145288947
|
|
NM_003126.4(SPTA1):c.4875+12C>T
|
rs139797540
|
|
NM_003126.4(SPTA1):c.5433-19G>C
|
|
|
NM_003126.4(SPTA1):c.5834-18A>G
|
|
|
NM_003126.4(SPTA1):c.6121-11del
|
rs548425429
|
|
NM_003126.4(SPTA1):c.6549-12G>A
|
rs857716
|
|
NM_003126.4(SPTA1):c.853C>A (p.Pro285Thr)
|
rs150007668
|
|
NM_003200.5(TCF3):c.1167+11GCCCC[3]
|
|
|
NM_003200.5(TCF3):c.1291_1293delinsAGT (p.Gly431Ser)
|
rs386805766
|
|
NM_003200.5(TCF3):c.1806G>A (p.Leu602=)
|
rs1376446279
|
|
NM_003200.5(TCF3):c.879CTC[1] (p.Ser295del)
|
rs550914200
|
|
NM_003200.5(TCF3):c.888C>T (p.Ala296=)
|
rs34203855
|
|
NM_003238.6(TGFB2):c.643+11_643+12del
|
|
|
NM_003239.5(TGFB3):c.711T>C (p.Asp237=)
|
rs1206735679
|
|
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)
|
rs35766612
|
|
NM_003242.6(TGFBR2):c.264-7A>G
|
rs1001983657
|
|
NM_003280.3(TNNC1):c.102C>A (p.Gly34=)
|
rs1048914110
|
|
NM_003280.3(TNNC1):c.454+17G>A
|
rs754572435
|
|
NM_003322.6(TULP1):c.1278T>C (p.Pro426=)
|
rs564743170
|
|
NM_003336.4(UBE2A):c.111C>T (p.Asn37=)
|
rs1556235602
|
|
NM_003482.4(KMT2D):c.11202GCA[8] (p.Gln3745dup)
|
rs398123707
|
|
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr)
|
rs143711798
|
|
NM_003659.4(AGPS):c.1233+13AT[7]
|
rs200546003
|
|
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del)
|
rs397516862
|
|
NM_003680.4(YARS1):c.1042+20G>A
|
|
|
NM_003924.4(PHOX2B):c.741C>G (p.Ala247=)
|
rs764470906
|
|
NM_003924.4(PHOX2B):c.741_758del (p.Ala255_Ala260del)
|
rs771383153
|
|
NM_003924.4(PHOX2B):c.765_779del (p.Ala256_Ala260del)
|
rs761018157
|
|
NM_003978.5(PSTPIP1):c.929+8C>T
|
|
|
NM_003998.4(NFKB1):c.2227+18C>T
|
rs375361337
|
|
NM_004004.6(GJB2):c.294G>C (p.Arg98=)
|
rs1334783390
|
|
NM_004006.3(DMD):c.10554-28T>C
|
|
|
NM_004006.3(DMD):c.1812+16C>T
|
rs2052663784
|
|
NM_004006.3(DMD):c.4744G>A (p.Val1582Ile)
|
rs398123965
|
|
NM_004006.3(DMD):c.5154+15A>G
|
rs1603631739
|
|
NM_004082.5(DCTN1):c.280-34_280-12dup
|
rs762313810
|
|
NM_004100.5(EYA4):c.1107+19A>T
|
rs1562471490
|
|
NM_004168.4(SDHA):c.-7A>C
|
rs751633537
|
|
NM_004168.4(SDHA):c.622-7C>T
|
rs759371428
|
|
NM_004183.4(BEST1):c.132C>T (p.Tyr44=)
|
|
|
NM_004239.4(TRIP11):c.4558-18A>C
|
rs201561387
|
|
NM_004239.4(TRIP11):c.4842A>G (p.Thr1614=)
|
|
|
NM_004304.5(ALK):c.2550G>A (p.Gly850=)
|
rs772710286
|
|
NM_004329.3(BMPR1A):c.230+20C>G
|
rs755474277
|
|
NM_004333.6(BRAF):c.608+19G>C
|
rs200908826
|
|
NM_004360.5(CDH1):c.1452C>T (p.Pro484=)
|
rs1597898030
|
|
NM_004360.5(CDH1):c.2475G>A (p.Pro825=)
|
rs755658014
|
|
NM_004360.5(CDH1):c.2493C>T (p.Leu831=)
|
rs779267700
|
|
NM_004364.5(CEBPA):c.705G>A (p.Pro235=)
|
rs1600022049
|
|
NM_004415.4(DSP):c.2418T>C (p.Ala806=)
|
rs1759183681
|
|
NM_004415.4(DSP):c.2631-10T>A
|
rs369840498
|
|
NM_004415.4(DSP):c.3084+8A>T
|
|
|
NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del)
|
rs397516962
|
|
NM_004444.5(EPHB4):c.52+14_52+16del
|
|
|
NM_004700.4(KCNQ4):c.1647C>T (p.Phe549=)
|
rs1362729181
|
|
NM_004863.4(SPTLC2):c.761G>C (p.Cys254Ser)
|
rs572378641
|
|
NM_004958.4(MTOR):c.3459C>T (p.Ser1153=)
|
|
|
NM_004984.4(KIF5A):c.138A>G (p.Pro46=)
|
rs2140158738
|
|
NM_004984.4(KIF5A):c.397-16_397-14del
|
rs375316447
|
|
NM_004990.4(MARS1):c.887+17G>C
|
rs201259473
|
|
NM_005159.5(ACTC1):c.616+5GT[4]
|
rs749539033
|
|
NM_005159.5(ACTC1):c.975C>T (p.Ser325=)
|
rs939520463
|
|
NM_005188.4(CBL):c.1365TGA[7] (p.Asp460dup)
|
rs397507494
|
|
NM_005188.4(CBL):c.1629A>G (p.Pro543=)
|
rs558577411
|
|
NM_005228.5(EGFR):c.438C>T (p.Gly146=)
|
rs199637112
|
|
NM_005334.3(HCFC1):c.4638C>T (p.Ala1546=)
|
|
|
NM_005359.6(SMAD4):c.1447+9G>A
|
rs878854766
|
|
NM_005359.6(SMAD4):c.787+15T>G
|
rs374687785
|
|
NM_005428.4(VAV1):c.2532C>T (p.Tyr844=)
|
rs373692240
|
|
NM_005475.3(SH2B3):c.1137G>A (p.Gln379=)
|
|
|
NM_005475.3(SH2B3):c.733-11835T>C
|
|
|
NM_005529.7(HSPG2):c.11717G>A (p.Arg3906Gln)
|
rs78944354
|
|
NM_005529.7(HSPG2):c.11983T>C (p.Leu3995=)
|
|
|
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu)
|
rs113652076
|
|
NM_005529.7(HSPG2):c.5997+13del
|
rs529255698
|
|
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=)
|
rs150129885
|
|
NM_005529.7(HSPG2):c.6819C>T (p.His2273=)
|
rs151177187
|
|
NM_005529.7(HSPG2):c.6981G>C (p.Gly2327=)
|
rs776803197
|
|
NM_005529.7(HSPG2):c.7983C>T (p.Ile2661=)
|
|
|
NM_005529.7(HSPG2):c.8336G>A (p.Arg2779Gln)
|
rs529205824
|
|
NM_005529.7(HSPG2):c.8616+9G>A
|
rs189754659
|
|
NM_005548.3(KARS1):c.1425-5C>T
|
|
|
NM_005591.4(MRE11):c.660-6A>G
|
rs1946722633
|
|
NM_005591.4(MRE11):c.845+9T>C
|
|
|
NM_005633.4(SOS1):c.1203-18T>A
|
|
|
NM_005633.4(SOS1):c.2167+16del
|
rs79984786
|
|
NM_005633.4(SOS1):c.225A>G (p.Gln75=)
|
rs560037748
|
|
NM_005633.4(SOS1):c.2511-13_2511-9del
|
rs727503436
|
|
NM_005633.4(SOS1):c.3392-14T>G
|
|
|
NM_005751.5(AKAP9):c.28C>T (p.Leu10=)
|
rs778519429
|
|
NM_005901.6(SMAD2):c.372A>C (p.Pro124=)
|
|
|
NM_005901.6(SMAD2):c.687T>C (p.Asp229=)
|
|
|
NM_005901.6(SMAD2):c.87C>T (p.Gly29=)
|
|
|
NM_005902.4(SMAD3):c.1059C>T (p.Ala353=)
|
rs767649515
|
|
NM_005902.4(SMAD3):c.30G>T (p.Pro10=)
|
|
|
NM_006005.3(WFS1):c.1038G>A (p.Pro346=)
|
rs143886476
|
|
NM_006005.3(WFS1):c.154C>A (p.Pro52Thr)
|
rs111773340
|
|
NM_006005.3(WFS1):c.2013G>T (p.Ala671=)
|
|
|
NM_006005.3(WFS1):c.2387ACG[3] (p.Asp797dup)
|
rs397517197
|
|
NM_006005.3(WFS1):c.350C>T (p.Thr117Met)
|
rs141225426
|
|
NM_006005.3(WFS1):c.57G>C (p.Pro19=)
|
|
|
NM_006005.3(WFS1):c.943C>T (p.Leu315=)
|
|
|
NM_006030.4(CACNA2D2):c.2143+16G>T
|
|
|
NM_006031.6(PCNT):c.1083A>G (p.Leu361=)
|
rs758561093
|
|
NM_006031.6(PCNT):c.1438A>G (p.Ser480Gly)
|
|
|
NM_006031.6(PCNT):c.1457-12G>A
|
rs756968448
|
|
NM_006031.6(PCNT):c.1971C>T (p.Asp657=)
|
|
|
NM_006031.6(PCNT):c.2062C>T (p.Leu688Phe)
|
|
|
NM_006031.6(PCNT):c.4571C>G (p.Pro1524Arg)
|
rs35513449
|
|
NM_006031.6(PCNT):c.5505G>A (p.Leu1835=)
|
|
|
NM_006031.6(PCNT):c.597A>T (p.Thr199=)
|
|
|
NM_006031.6(PCNT):c.7199G>A (p.Arg2400His)
|
|
|
NM_006031.6(PCNT):c.7G>C (p.Val3Leu)
|
rs1175937762
|
|
NM_006031.6(PCNT):c.8906G>A (p.Arg2969Gln)
|
|
|
NM_006031.6(PCNT):c.924G>A (p.Glu308=)
|
rs146178359
|
|
NM_006060.6(IKZF1):c.825G>A (p.Lys275=)
|
rs1064796324
|
|
NM_006073.4(TRDN):c.1672+6T>C
|
|
|
NM_006073.4(TRDN):c.1721-4A>T
|
rs60743141
|
|
NM_006073.4(TRDN):c.425-11dup
|
rs950851610
|
|
NM_006073.4(TRDN):c.931+18del
|
rs201431159
|
|
NM_006096.4(NDRG1):c.1053_1082del (p.340TRSRSHTSEG[2])
|
rs751274009
|
|
NM_006158.5(NEFL):c.1392G>A (p.Glu464=)
|
rs1554497334
|
|
NM_006182.4(DDR2):c.1158C>A (p.Thr386=)
|
rs781486678
|
|
NM_006231.4(POLE):c.1695C>A (p.Ala565=)
|
rs139748472
|
|
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg)
|
rs36120395
|
|
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg)
|
rs5744971
|
|
NM_006258.4(PRKG1):c.1674A>C (p.Ser558=)
|
rs1564544689
|
|
NM_006258.4(PRKG1):c.546G>A (p.Gly182=)
|
rs73336216
|
|
NM_006269.2(RP1):c.510T>G (p.Val170=)
|
rs1407578080
|
|
NM_006329.4(FBLN5):c.862+12C>G
|
rs202088447
|
|
NM_006363.6(SEC23B):c.2229C>T (p.Pro743=)
|
|
|
NM_006363.6(SEC23B):c.835-10G>A
|
|
|
NM_006363.6(SEC23B):c.873T>C (p.Phe291=)
|
|
|
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala)
|
rs119482084
|
|
NM_006446.5(SLCO1B1):c.-3A>G
|
|
|
NM_006506.5(RASA2):c.1591-20G>A
|
rs1462837025
|
|
NM_006579.3(EBP):c.-74+3G>C
|
rs188270695
|
|
NM_006767.4(LZTR1):c.1450-12T>G
|
rs538025751
|
|
NM_006767.4(LZTR1):c.1785+13_1785+33dup
|
|
|
NM_006790.3(MYOT):c.343G>A (p.Ala115Thr)
|
rs114194130
|
|
NM_006939.4(SOS2):c.1125T>C (p.Ile375=)
|
rs1885009611
|
|
NM_006939.4(SOS2):c.346-5C>T
|
|
|
NM_007194.4(CHEK2):c.925C>T (p.Leu309=)
|
rs786202521
|
|
NM_007272.3(CTRC):c.249T>C (p.Arg83=)
|
rs1570783555
|
|
NM_007272.3(CTRC):c.357-30C>A
|
rs1224734295
|
|
NM_007272.3(CTRC):c.357-3C>T
|
|
|
NM_007272.3(CTRC):c.640-40G>C
|
rs191025876
|
|
NM_007272.3(CTRC):c.640-40G>T
|
rs191025876
|
|
NM_007272.3(CTRC):c.640-41G>T
|
rs186735838
|
|
NM_007272.3(CTRC):c.640-42G>C
|
rs199897030
|
|
NM_007272.3(CTRC):c.696T>C (p.Phe232=)
|
rs1557510814
|
|
NM_007272.3(CTRC):c.747G>T (p.Pro249=)
|
rs150078209
|
|
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del)
|
rs80358329
|
|
NM_007294.4(BRCA1):c.212+15A>G
|
rs587780797
|
|
NM_007294.4(BRCA1):c.243A>G (p.Gln81=)
|
rs863224418
|
|
NM_007294.4(BRCA1):c.2668G>A (p.Gly890Arg)
|
rs80357200
|
|
NM_007294.4(BRCA1):c.301+11A>C
|
rs1555596621
|
|
NM_007294.4(BRCA1):c.3090C>T (p.Asn1030=)
|
rs1221088119
|
|
NM_007294.4(BRCA1):c.3143G>T (p.Gly1048Val)
|
rs80356899
|
|
NM_007294.4(BRCA1):c.3519T>C (p.Ser1173=)
|
rs1597863152
|
|
NM_007294.4(BRCA1):c.3597T>A (p.Ala1199=)
|
rs1555587434
|
|
NM_007294.4(BRCA1):c.4097-6T>C
|
rs1555586284
|
|
NM_007294.4(BRCA1):c.4185+24A>G
|
rs763074389
|
|
NM_007294.4(BRCA1):c.4186-10G>A
|
rs80358172
|
|
NM_007294.4(BRCA1):c.426C>T (p.Pro142=)
|
rs542687218
|
|
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly)
|
rs41293455
|
|
NM_007294.4(BRCA1):c.4419T>C (p.Ser1473=)
|
rs730881455
|
|
NM_007294.4(BRCA1):c.4484+37A>G
|
rs2052715065
|
|
NM_007294.4(BRCA1):c.4987-16T>C
|
rs773821829
|
|
NM_007294.4(BRCA1):c.5025T>C (p.Thr1675=)
|
rs876658226
|
|
NM_007294.4(BRCA1):c.5075-9A>G
|
rs80358059
|
|
NM_007294.4(BRCA1):c.5198A>G (p.Asp1733Gly)
|
rs80357270
|
|
NM_007294.4(BRCA1):c.5406+19G>C
|
rs2051068026
|
|
NM_007294.4(BRCA1):c.548-9del
|
rs273902774
|
|
NM_007294.4(BRCA1):c.5538G>A (p.Gln1846=)
|
rs80356849
|
|
NM_007294.4(BRCA1):c.739A>G (p.Asn247Asp)
|
rs767720128
|
|
NM_007294.4(BRCA1):c.81-13C>A
|
rs56328013
|
|
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser)
|
rs8176153
|
|
NM_012092.4(ICOS):c.395-19A>G
|
|
|
NM_012096.3(APPL1):c.374-9C>T
|
|
|
NM_012213.3(MLYCD):c.1296C>T (p.Arg432=)
|
|
|
NM_012330.4(KAT6B):c.3238G>A (p.Glu1080Lys)
|
rs1564626220
|
|
NM_013296.5(GPSM2):c.1560AAC[2] (p.Thr523del)
|
rs199964596
|
|
NM_013314.4(BLNK):c.1020C>T (p.Gly340=)
|
rs375535673
|
|
NM_014000.3(VCL):c.120C>T (p.Leu40=)
|
rs144080529
|
|
NM_014014.5(SNRNP200):c.382-13T>C
|
rs759075763
|
|
NM_014140.4(SMARCAL1):c.1334+15T>A
|
|
|
NM_014208.3(DSPP):c.3447A>T (p.Glu1149Asp)
|
|
|
NM_014215.3(INSRR):c.3397+23G>A
|
|
|
NM_014336.5(AIPL1):c.771C>T (p.Leu257=)
|
rs781449220
|
|
NM_014629.4(ARHGEF10):c.1911A>G (p.Lys637=)
|
rs1222847857
|
|
NM_014639.4(SKIC3):c.2077G>A (p.Val693Ile)
|
rs150894862
|
|
NM_014639.4(SKIC3):c.4497-14dup
|
rs755628334
|
|
NM_014822.4(SEC24D):c.2093-14T>C
|
|
|
NM_014845.6(FIG4):c.2097-10C>G
|
rs142482745
|
|
NM_014920.5(CILK1):c.534C>T (p.Ser178=)
|
rs543243399
|
|
NM_015046.7(SETX):c.7200-10dup
|
rs531485265
|
|
NM_015139.3(SLC35D1):c.393-5dup
|
rs5774854
|
|
NM_015139.3(SLC35D1):c.687G>T (p.Leu229=)
|
rs920330019
|
|
NM_015271.5(TRIM2):c.1554G>A (p.Gly518=)
|
|
|
NM_015450.3(POT1):c.547-10C>T
|
rs1413025095
|
|
NM_015466.4(PTPN23):c.1278G>A (p.Ala426=)
|
|
|
NM_015512.5(DNAH1):c.2241C>T (p.Tyr747=)
|
rs145912972
|
|
NM_015512.5(DNAH1):c.6309C>T (p.Ile2103=)
|
|
|
NM_015512.5(DNAH1):c.6526-10_6526-9del
|
rs562893788
|
|
NM_015915.5(ATL1):c.418-8G>T
|
|
|
NM_016156.6(MTMR2):c.184_186del (p.Arg62del)
|
rs141498429
|
|
NM_016203.4(PRKAG2):c.1005+8G>C
|
rs1245068890
|
|
NM_016203.4(PRKAG2):c.375G>A (p.Gly125=)
|
rs748041666
|
|
NM_016203.4(PRKAG2):c.466+45239T>G
|
|
|
NM_016203.4(PRKAG2):c.606G>A (p.Gln202=)
|
|
|
NM_016204.4(GDF2):c.-12C>T
|
rs571429116
|
|
NM_016204.4(GDF2):c.69G>T (p.Lys23Asn)
|
rs549031631
|
|
NM_016204.4(GDF2):c.740G>C (p.Gly247Ala)
|
rs369219783
|
|
NM_016938.5(EFEMP2):c.490+9A>T
|
rs1465424178
|
|
NM_016938.5(EFEMP2):c.591C>T (p.Asn197=)
|
|
|
NM_017553.3(INO80):c.2644A>G (p.Ile882Val)
|
|
|
NM_017553.3(INO80):c.3323T>G (p.Val1108Gly)
|
|
|
NM_017617.5(NOTCH1):c.1443C>T (p.Gly481=)
|
|
|
NM_017617.5(NOTCH1):c.17C>T (p.Ala6Val)
|
|
|
NM_017617.5(NOTCH1):c.17_18delinsTT (p.Ala6Val)
|
rs878855023
|
|
NM_017617.5(NOTCH1):c.18G>T (p.Ala6=)
|
|
|
NM_017617.5(NOTCH1):c.2468-7C>T
|
|
|
NM_017617.5(NOTCH1):c.3262G>A (p.Gly1088Ser)
|
rs531420022
|
|
NM_017617.5(NOTCH1):c.6351C>T (p.Asn2117=)
|
|
|
NM_017620.3(ILF3):c.1070-15G>A
|
rs2068263275
|
|
NM_017636.4(TRPM4):c.1944C>G (p.Leu648=)
|
rs1968308985
|
|
NM_017636.4(TRPM4):c.2529G>A (p.Gly843=)
|
rs754769591
|
|
NM_017636.4(TRPM4):c.2766C>A (p.Ile922=)
|
rs774680517
|
|
NM_017636.4(TRPM4):c.2778+8del
|
rs1600513831
|
|
NM_017668.3(NDE1):c.947+11989AG[2]
|
rs747642850
|
|
NM_017668.3(NDE1):c.947+11989AG[3]
|
rs747642850
|
|
NM_017668.3(NDE1):c.948-7058C>T
|
rs529718944
|
|
NM_017802.4(DNAAF5):c.2082+8del
|
rs878855035
|
|
NM_017950.4(CCDC40):c.1562+2003C>A
|
|
|
NM_018139.3(DNAAF2):c.1119C>T (p.Ser373=)
|
|
|
NM_018706.7(DHTKD1):c.2047+16T>C
|
rs1833248223
|
|
NM_018979.4(WNK1):c.1767C>G (p.Leu589=)
|
|
|
NM_018979.4(WNK1):c.1776G>A (p.Gln592=)
|
rs747700724
|
|
NM_018979.4(WNK1):c.4605_4607del (p.Ser1536del)
|
rs72650732
|
|
NM_018979.4(WNK1):c.5542_5550del (p.Thr1848_Ser1850del)
|
rs544395150
|
|
NM_019075.4(UGT1A10):c.855+45220C>T
|
|
|
NM_019076.5(UGT1A8):c.1075+20T>G
|
|
|
NM_019076.5(UGT1A8):c.1299C>T (p.Tyr433=)
|
|
|
NM_019076.5(UGT1A8):c.855+63761_855+63762delinsGG
|
rs2125523027
|
|
NM_019076.5(UGT1A8):c.855+64104T>C
|
|
|
NM_019076.5(UGT1A8):c.856-73523C>T
|
|
|
NM_019109.5(ALG1):c.25C>T (p.Leu9=)
|
rs771370322
|
|
NM_019844.4(SLCO1B3):c.1241C>T (p.Thr414Ile)
|
rs146940490
|
|
NM_019844.4(SLCO1B3):c.1464A>G (p.Gly488=)
|
|
|
NM_019844.4(SLCO1B3):c.1974A>C (p.Ala658=)
|
rs774423704
|
|
NM_019844.4(SLCO1B3):c.481+12_481+25del
|
rs766220111
|
|
NM_019844.4(SLCO1B3):c.481+3A>G
|
rs199631489
|
|
NM_019844.4(SLCO1B3):c.481+7A>G
|
|
|
NM_020435.4(GJC2):c.979T>C (p.Leu327=)
|
rs2034725952
|
|
NM_020631.6(PLEKHG5):c.-88+6208C>T
|
|
|
NM_020631.6(PLEKHG5):c.1681-27_1681-3dup
|
rs748372368
|
|
NM_020631.6(PLEKHG5):c.1710G>A (p.Leu570=)
|
rs1644528365
|
|
NM_020631.6(PLEKHG5):c.43+14_43+20del
|
rs527883968
|
|
NM_020779.4(WDR35):c.1401-14_1401-10del
|
|
|
NM_020800.3(IFT80):c.1326C>G (p.Leu442=)
|
rs886058131
|
|
NM_020806.5(GPHN):c.1809A>G (p.Thr603=)
|
|
|
NM_020975.6(RET):c.1230C>G (p.Leu410=)
|
rs995081128
|
|
NM_020975.6(RET):c.2393-14C>T
|
rs144269978
|
|
NM_021625.5(TRPV4):c.1584+17dup
|
rs1011607708
|
|
NM_021625.5(TRPV4):c.1825-15C>T
|
rs200602134
|
|
NM_021625.5(TRPV4):c.528C>T (p.His176=)
|
|
|
NM_021625.5(TRPV4):c.957G>C (p.Ser319=)
|
rs116698155
|
|
NM_021629.4(GNB4):c.162C>T (p.His54=)
|
|
|
NM_021939.4(FKBP10):c.1256+11G>C
|
rs199627092
|
|
NM_021939.4(FKBP10):c.1557G>A (p.Pro519=)
|
|
|
NM_021939.4(FKBP10):c.246-5C>G
|
rs140027863
|
|
NM_021939.4(FKBP10):c.81G>A (p.Val27=)
|
rs775987430
|
|
NM_022114.4(PRDM16):c.60T>C (p.Asn20=)
|
|
|
NM_022124.6(CDH23):c.5130C>T (p.Ile1710=)
|
rs111033487
|
|
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs)
|
rs2066847
|
|
NM_022356.4(P3H1):c.690G>C (p.Ala230=)
|
rs376714509
|
|
NM_022356.4(P3H1):c.808+9A>T
|
rs1553143084
|
|
NM_022356.4(P3H1):c.940+15C>G
|
|
|
NM_022489.4(INF2):c.3342C>G (p.Leu1114=)
|
rs777623201
|
|
NM_024009.3(GJB3):c.109G>A (p.Val37Met)
|
rs148388884
|
|
NM_024009.3(GJB3):c.652_663del (p.Leu218_Asp221del)
|
rs727503069
|
|
NM_024301.5(FKRP):c.948C>T (p.Pro316=)
|
rs945877846
|
|
NM_024422.6(DSC2):c.1350A>G (p.Arg450=)
|
rs144242114
|
|
NM_024422.6(DSC2):c.2509-18T>C
|
rs1598569530
|
|
NM_024426.6(WT1):c.1448-10G>T
|
rs185744719
|
|
NM_024577.4(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe)
|
rs863224780
|
|
NM_024577.4(SH3TC2):c.438C>A (p.Leu146=)
|
rs976553031
|
|
NM_024675.4(PALB2):c.212-10del
|
rs766487430
|
|
NM_024675.4(PALB2):c.9G>A (p.Glu3=)
|
rs786202325
|
|
NM_024753.5(TTC21B):c.1956A>G (p.Glu652=)
|
rs1686129480
|
|
NM_025132.4(WDR19):c.2364-4del
|
rs750106753
|
|
NM_025132.4(WDR19):c.3303A>G (p.Gln1101=)
|
rs1734984378
|
|
NM_025132.4(WDR19):c.717-11C>G
|
rs1370589827
|
|
NM_030662.4(MAP2K2):c.985-19C>A
|
rs987549297
|
|
NM_030962.4(SBF2):c.1863T>C (p.Asp621=)
|
|
|
NM_030962.4(SBF2):c.2611-35AATC[6]
|
rs202029370
|
|
NM_030962.4(SBF2):c.5017GAA[1] (p.Glu1674del)
|
rs572571832
|
|
NM_032119.4(ADGRV1):c.6274+20TTA[4]
|
rs771346895
|
|
NM_032119.4(ADGRV1):c.8805T>G (p.Thr2935=)
|
rs1561569406
|
|
NM_032415.7(CARD11):c.1341+15G>A
|
|
|
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1])
|
rs397517465
|
|
NM_033118.4(MYLK2):c.1083-5C>T
|
rs1600410950
|
|
NM_033163.5(FGF8):c.86_103dup (p.Gly29_Arg34dup)
|
rs762175290
|
|
NM_033380.3(COL4A5):c.3553+10_3553+11delinsA
|
|
|
NM_052854.4(CREB3L1):c.1259-14C>T
|
|
|
NM_052854.4(CREB3L1):c.132G>A (p.Thr44=)
|
|
|
NM_053025.4(MYLK):c.1209C>A (p.Ile403=)
|
rs1553822281
|
|
NM_053025.4(MYLK):c.1713G>A (p.Gln571=)
|
|
|
NM_053025.4(MYLK):c.3138C>T (p.Thr1046=)
|
rs1279460356
|
|
NM_053025.4(MYLK):c.4131G>A (p.Thr1377=)
|
rs756697460
|
|
NM_053025.4(MYLK):c.4344T>C (p.Asp1448=)
|
|
|
NM_053025.4(MYLK):c.588+13_588+16del
|
rs570821069
|
|
NM_053274.3(GLMN):c.1410-19AT[2]
|
rs555041177
|
|
NM_058216.3(RAD51C):c.570G>A (p.Glu190=)
|
rs1555594937
|
|
NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln)
|
rs199866657
|
|
NM_080860.4(RSPH1):c.727+15C>G
|
rs202146973
|
|
NM_130810.4(DNAAF4):c.1047+13A>G
|
|
|
NM_133261.3(GIPC3):c.69G>A (p.Ala23=)
|
rs150473323
|
|
NM_133379.5(TTN):c.13011G>A (p.Val4337=)
|
rs759739112
|
|
NM_138477.4(CDAN1):c.1740-20C>T
|
|
|
NM_138477.4(CDAN1):c.1740-6_1740-4del
|
|
|
NM_138477.4(CDAN1):c.2174+11C>T
|
rs749464836
|
|
NM_138477.4(CDAN1):c.2229G>C (p.Leu743=)
|
|
|
NM_138477.4(CDAN1):c.2353-18C>A
|
|
|
NM_138477.4(CDAN1):c.3097-26_3097-20del
|
|
|
NM_138477.4(CDAN1):c.3135C>T (p.Asp1045=)
|
rs146289653
|
|
NM_138477.4(CDAN1):c.3189G>A (p.Thr1063=)
|
|
|
NM_138477.4(CDAN1):c.375G>A (p.Pro125=)
|
|
|
NM_138477.4(CDAN1):c.639C>G (p.Thr213=)
|
|
|
NM_138477.4(CDAN1):c.804C>A (p.Pro268=)
|
|
|
NM_144687.4(NLRP12):c.3015G>A (p.Leu1005=)
|
|
|
NM_144997.7(FLCN):c.871+170_871+178del
|
rs750424403
|
|
NM_145038.5(DRC1):c.765+15C>T
|
|
|
NM_147127.5(EVC2):c.1711-12_1711-10dup
|
rs35103377
|
|
NM_147127.5(EVC2):c.3272+8G>A
|
rs201800139
|
|
NM_153717.3(EVC):c.1528G>A (p.Val510Ile)
|
rs143971158
|
|
NM_153717.3(EVC):c.703-4del
|
rs2152000379
|
|
NM_153717.3(EVC):c.802-17TTC[4]
|
rs370315662
|
|
NM_170707.4(LMNA):c.1212T>C (p.Ser404=)
|
rs1651612070
|
|
NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup)
|
rs35574083
|
|
NM_175914.5(HNF4A):c.609C>T (p.Gly203=)
|
|
|
NM_177438.3(DICER1):c.177T>C (p.Asn59=)
|
rs780984249
|
|
NM_177438.3(DICER1):c.4254GGA[2] (p.Glu1420del)
|
rs544960260
|
|
NM_177438.3(DICER1):c.5250A>G (p.Val1750=)
|
rs1595330127
|
|
NM_177438.3(DICER1):c.5365-7_5365-6del
|
rs767777044
|
|
NM_177438.3(DICER1):c.735-16G>A
|
rs1340092363
|
|
NM_181078.3(IL21R):c.-17+585C>T
|
rs114226509
|
|
NM_181078.3(IL21R):c.508-30_508-20del
|
rs2087443169
|
|
NM_181523.3(PIK3R1):c.634+8T>C
|
rs368138177
|
|
NM_181882.3(PRX):c.993G>T (p.Pro331=)
|
rs146323928
|
|
NM_182916.3(TRNT1):c.810_811insAAACTT (p.Pro270_Ala271insLysLeu)
|
rs527331900
|
|
NM_182925.5(FLT4):c.1452A>G (p.Pro484=)
|
rs574670594
|
|
NM_182961.4(SYNE1):c.23139T>C (p.Arg7713=)
|
rs899533876
|
|
NM_182972.3(IRF2BP2):c.928C>T (p.Leu310=)
|
rs1672238574
|
|
NM_194248.3(OTOF):c.510-7del
|
|
|
NM_194454.3(KRIT1):c.1308G>A (p.Leu436=)
|
rs1190790030
|
|
NM_201596.3(CACNB2):c.1670C>T (p.Ser557Leu)
|
rs137886839
|
|
NM_203486.3(DLL3):c.616C>G (p.Pro206Ala)
|
rs376905666
|
|
NM_206933.4(USH2A):c.4680A>C (p.Ala1560=)
|
rs1233583863
|
|
NM_206933.4(USH2A):c.6462G>A (p.Leu2154=)
|
rs1558203898
|
|
NM_206933.4(USH2A):c.9258+3T>C
|
rs1553268427
|
|
NM_213622.4(STAMBP):c.33C>T (p.Pro11=)
|
rs145371363
|
|