NM_000552.5(VWF):c.4641T>C (p.Thr1547=)
|
rs216310
|
0.71518
|
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_000152.3(GAA):c.2065G>A (p.Glu689Lys)
|
rs1800309
|
0.04051
|
NM_000152.5(GAA):c.271G>A (p.Asp91Asn)
|
rs1800299
|
0.02215
|
NM_003126.4(SPTA1):c.4453C>T (p.Leu1485Phe)
|
rs34973695
|
0.01729
|
NM_001142386.3(PDK3):c.1228A>C (p.Lys410Gln)
|
rs141326782
|
0.01437
|
NM_004972.4(JAK2):c.1177C>G (p.Leu393Val)
|
rs2230723
|
0.01376
|
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_000055.2(BCHE):c.293A>G (p.Asp98Gly)
|
rs1799807
|
0.01259
|
NM_002863.5(PYGL):c.2416A>T (p.Ile806Leu)
|
rs34313873
|
0.01205
|
NM_001498.4(GCLC):c.1384C>T (p.Pro462Ser)
|
rs17883718
|
0.01172
|
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys)
|
rs45562031
|
0.01150
|
NM_001142864.4(PIEZO1):c.4475G>A (p.Gly1492Asp)
|
rs8051003
|
0.01135
|
NM_000717.5(CA4):c.700G>A (p.Val234Ile)
|
rs117704637
|
0.01071
|
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_003126.4(SPTA1):c.3989G>T (p.Arg1330Ile)
|
rs34214405
|
0.00972
|
NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu)
|
rs1007211
|
0.00957
|
NM_003126.4(SPTA1):c.6559A>G (p.Lys2187Glu)
|
rs111980420
|
0.00939
|
NM_145045.5(ODAD3):c.1501G>A (p.Gly501Ser)
|
rs77133587
|
0.00924
|
NM_001142864.4(PIEZO1):c.748G>A (p.Val250Ile)
|
rs115486714
|
0.00895
|
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_001142864.4(PIEZO1):c.998G>A (p.Arg333His)
|
rs139099911
|
0.00845
|
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_002439.5(MSH3):c.1567G>A (p.Glu523Lys)
|
rs34058399
|
0.00789
|
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=)
|
rs78926093
|
0.00784
|
NM_000293.3(PHKB):c.3121C>T (p.Arg1041Trp)
|
rs12918964
|
0.00765
|
NM_001355436.2(SPTB):c.1765G>A (p.Ala589Thr)
|
rs61459051
|
0.00757
|
NM_022356.4(P3H1):c.611C>A (p.Pro204His)
|
rs77208721
|
0.00751
|
NM_001142864.4(PIEZO1):c.7529C>T (p.Pro2510Leu)
|
rs61745086
|
0.00748
|
NM_004744.5(LRAT):c.74T>A (p.Phe25Tyr)
|
rs75368761
|
0.00748
|
NM_000215.4(JAK3):c.2164G>A (p.Val722Ile)
|
rs3213409
|
0.00743
|
NM_001142864.4(PIEZO1):c.5552C>T (p.Thr1851Met)
|
rs34370460
|
0.00731
|
NM_194248.3(OTOF):c.98G>A (p.Arg33Gln)
|
rs56332208
|
0.00731
|
NM_002506.3(NGF):c.214G>A (p.Val72Met)
|
rs11466110
|
0.00727
|
NM_001291303.3(FAT4):c.12071G>A (p.Arg4024Gln)
|
rs28515675
|
0.00726
|
NM_052945.4(TNFRSF13C):c.191G>T (p.Gly64Val)
|
rs547352394
|
0.00722
|
NM_000298.6(PKLR):c.1269+43T>C
|
rs8177982
|
0.00718
|
NM_004984.4(KIF5A):c.396+14G>A
|
rs17119769
|
0.00700
|
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_080680.3(COL11A2):c.1098G>A (p.Ala366=)
|
rs73741539
|
0.00672
|
NM_001498.4(GCLC):c.1524G>A (p.Thr508=)
|
rs17881359
|
0.00669
|
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys)
|
rs41303344
|
0.00668
|
NM_017654.4(SAMD9):c.4733T>C (p.Ile1578Thr)
|
rs144380633
|
0.00655
|
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)
|
rs62642564
|
0.00654
|
NM_001142864.4(PIEZO1):c.6222C>T (p.Phe2074=)
|
rs34388120
|
0.00654
|
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser)
|
rs1800307
|
0.00653
|
NM_000541.5(SAG):c.1091C>T (p.Pro364Leu)
|
rs112613526
|
0.00622
|
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_006231.4(POLE):c.776G>A (p.Arg259His)
|
rs61732929
|
0.00604
|
NM_018076.5(ODAD2):c.612T>A (p.Asp204Glu)
|
rs61729354
|
0.00602
|
NM_001142864.4(PIEZO1):c.7505A>G (p.Lys2502Arg)
|
rs34830861
|
0.00599
|
NM_000143.4(FH):c.53C>T (p.Pro18Leu)
|
rs201887750
|
0.00597
|
NM_001291303.3(FAT4):c.4154T>C (p.Leu1385Ser)
|
rs139883132
|
0.00597
|
NM_002529.4(NTRK1):c.2272G>A (p.Ala758Thr)
|
rs62640939
|
0.00591
|
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro)
|
rs28730852
|
0.00579
|
NM_052945.4(TNFRSF13C):c.475C>T (p.His159Tyr)
|
rs61756766
|
0.00573
|
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile)
|
rs34139502
|
0.00561
|
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu)
|
rs189569984
|
0.00554
|
NM_001142864.4(PIEZO1):c.2466C>T (p.Thr822=)
|
rs138064042
|
0.00549
|
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_001143992.2(WRAP53):c.1223G>A (p.Gly408Asp)
|
rs116535684
|
0.00539
|
NM_000335.5(SCN5A):c.1743G>A (p.Ser581=)
|
rs41313687
|
0.00537
|
NM_000532.5(PCCB):c.546G>A (p.Arg182=)
|
rs61598773
|
0.00533
|
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_001142864.4(PIEZO1):c.4770G>A (p.Val1590=)
|
rs183221795
|
0.00516
|
NM_001378454.1(ALMS1):c.6752A>G (p.Asp2251Gly)
|
rs28730855
|
0.00515
|
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_001457.4(FLNB):c.3785G>C (p.Gly1262Ala)
|
rs111330368
|
0.00503
|
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His)
|
rs41316003
|
0.00500
|
NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp)
|
rs142775522
|
0.00499
|
NM_001457.4(FLNB):c.7099G>A (p.Val2367Ile)
|
rs115747856
|
0.00488
|
NM_001297.5(CNGB1):c.634A>T (p.Thr212Ser)
|
rs192628905
|
0.00486
|
NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val)
|
rs140403186
|
0.00485
|
NM_003126.4(SPTA1):c.5834-15G>A
|
rs192889943
|
0.00480
|
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_144687.4(NLRP12):c.3046C>T (p.Arg1016Ter)
|
rs35064500
|
0.00470
|
NM_001844.5(COL2A1):c.4327G>A (p.Gly1443Ser)
|
rs78690642
|
0.00459
|
NM_002878.4(RAD51D):c.695G>A (p.Arg232Gln)
|
rs28363283
|
0.00457
|
NM_001918.5(DBT):c.1282-13_1282-9del
|
rs761681999
|
0.00456
|
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_015340.4(LARS2):c.1552G>A (p.Asp518Asn)
|
rs116826217
|
0.00451
|
NM_001142864.4(PIEZO1):c.1199G>A (p.Arg400Gln)
|
rs139100986
|
0.00450
|
NM_000342.4(SLC4A1):c.12G>A (p.Leu4=)
|
rs115901854
|
0.00447
|
NM_033100.4(CDHR1):c.783G>A (p.Pro261=)
|
rs147346345
|
0.00446
|
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
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_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_000316.3(PTH1R):c.436C>A (p.Arg146=)
|
rs143863124
|
0.00428
|
NM_001142864.4(PIEZO1):c.4866G>A (p.Glu1622=)
|
rs60253125
|
0.00426
|
NM_002296.4(LBR):c.1609T>G (p.Ser537Ala)
|
rs80299691
|
0.00426
|
NM_003126.4(SPTA1):c.1078A>T (p.Thr360Ser)
|
rs34133563
|
0.00424
|
NM_003126.4(SPTA1):c.33G>C (p.Glu11Asp)
|
rs41273533
|
0.00424
|
NM_003126.4(SPTA1):c.3398G>C (p.Arg1133Pro)
|
rs35733059
|
0.00420
|
NM_001142864.4(PIEZO1):c.2423G>A (p.Arg808Gln)
|
rs202103485
|
0.00418
|
NM_000435.3(NOTCH3):c.4679G>C (p.Arg1560Pro)
|
rs78501403
|
0.00417
|
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile)
|
rs8177988
|
0.00414
|
NM_001142864.4(PIEZO1):c.2344G>A (p.Gly782Ser)
|
rs200970763
|
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_001291303.3(FAT4):c.10853C>T (p.Thr3618Met)
|
rs111423173
|
0.00407
|
NM_001530.4(HIF1A):c.1253C>T (p.Thr418Ile)
|
rs41508050
|
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_005529.7(HSPG2):c.4132G>A (p.Glu1378Lys)
|
rs62642525
|
0.00406
|
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_005591.4(MRE11):c.1475C>A (p.Ala492Asp)
|
rs61749249
|
0.00399
|
NM_001142864.4(PIEZO1):c.1281G>A (p.Ala427=)
|
rs146687530
|
0.00396
|
NM_000081.4(LYST):c.1686G>C (p.Gln562His)
|
rs77091385
|
0.00394
|
NM_000188.3(HK1):c.691+13C>T
|
rs41279654
|
0.00393
|
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_000355.4(TCN2):c.89T>G (p.Leu30Arg)
|
rs116605132
|
0.00388
|
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp)
|
rs121909293
|
0.00386
|
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala)
|
rs61749435
|
0.00385
|
NM_001127671.2(LIFR):c.420G>A (p.Glu140=)
|
rs142475175
|
0.00380
|
NM_001142864.4(PIEZO1):c.718A>G (p.Ile240Val)
|
rs114403731
|
0.00374
|
NM_005529.7(HSPG2):c.3269G>A (p.Arg1090Gln)
|
rs78889849
|
0.00373
|
NM_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_153676.4(USH1C):c.946G>C (p.Glu316Gln)
|
rs35336155
|
0.00366
|
NM_201596.3(CACNB2):c.1488+13_1488+33dup
|
rs757040188
|
0.00361
|
NM_020191.4(MRPS22):c.741C>G (p.His247Gln)
|
rs140631494
|
0.00357
|
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_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val)
|
rs56002719
|
0.00354
|
NM_012073.5(CCT5):c.1059G>A (p.Leu353=)
|
rs114634318
|
0.00353
|
NM_001142864.4(PIEZO1):c.1297-6G>A
|
rs111945967
|
0.00352
|
NM_000459.5(TEK):c.1346A>G (p.Asn449Ser)
|
rs149684174
|
0.00351
|
NM_005529.7(HSPG2):c.2850T>C (p.Pro950=)
|
rs115322282
|
0.00351
|
NM_031229.4(RBCK1):c.756+3G>A
|
rs146804136
|
0.00350
|
NM_000188.3(HK1):c.828G>A (p.Glu276=)
|
rs41279658
|
0.00349
|
NM_001105206.3(LAMA4):c.2810A>G (p.Glu937Gly)
|
rs35605307
|
0.00349
|
NM_182925.5(FLT4):c.1921C>T (p.Pro641Ser)
|
rs55667289
|
0.00349
|
NM_000208.4(INSR):c.2946-14T>C
|
rs138585749
|
0.00347
|
NM_000355.4(TCN2):c.877C>T (p.Leu293=)
|
rs45624233
|
0.00347
|
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)
|
rs28383481
|
0.00347
|
NM_005529.7(HSPG2):c.11294G>A (p.Ser3765Asn)
|
rs114223739
|
0.00347
|
NM_002863.5(PYGL):c.424+6T>A
|
rs146741789
|
0.00346
|
NM_006231.4(POLE):c.5135C>T (p.Ala1712Val)
|
rs5744950
|
0.00346
|
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn)
|
rs201370621
|
0.00344
|
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_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_000540.3(RYR1):c.14505G>A (p.Gly4835=)
|
rs118126378
|
0.00334
|
NM_005529.7(HSPG2):c.1959A>C (p.Gln653His)
|
rs62642535
|
0.00333
|
NM_000142.5(FGFR3):c.1535-8G>T
|
rs111460786
|
0.00332
|
NM_000398.7(CYB5R3):c.45A>G (p.Pro15=)
|
rs111649710
|
0.00329
|
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg)
|
rs56380300
|
0.00328
|
NM_145045.5(ODAD3):c.254G>A (p.Arg85Gln)
|
rs143192349
|
0.00328
|
NM_001142864.4(PIEZO1):c.5461G>A (p.Gly1821Ser)
|
rs78574543
|
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_001142864.4(PIEZO1):c.3928G>A (p.Val1310Ile)
|
rs34606201
|
0.00322
|
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn)
|
rs137852783
|
0.00320
|
NM_000436.4(OXCT1):c.650G>T (p.Arg217Leu)
|
rs142383658
|
0.00320
|
NM_001355436.2(SPTB):c.4699G>C (p.Asp1567His)
|
rs138126360
|
0.00318
|
NM_000398.7(CYB5R3):c.432C>T (p.Gly144=)
|
rs112669378
|
0.00315
|
NM_002103.5(GYS1):c.555C>T (p.Gly185=)
|
rs2229612
|
0.00314
|
NM_000540.3(RYR1):c.9685+16C>T
|
rs45496799
|
0.00312
|
NM_005529.7(HSPG2):c.13088C>T (p.Ser4363Leu)
|
rs62642502
|
0.00312
|
NM_003126.4(SPTA1):c.679G>A (p.Glu227Lys)
|
rs199598260
|
0.00310
|
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)
|
rs41292677
|
0.00308
|
NM_003126.4(SPTA1):c.793A>G (p.Asn265Asp)
|
rs183647059
|
0.00307
|
NM_001498.4(GCLC):c.1478-16C>A
|
rs185146268
|
0.00306
|
NM_005529.7(HSPG2):c.10937G>A (p.Arg3646His)
|
rs112062179
|
0.00305
|
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys)
|
rs119103280
|
0.00303
|
NM_000035.4(ALDOB):c.156T>G (p.Thr52=)
|
rs149671008
|
0.00302
|
NM_001039213.4(CEACAM16):c.738G>A (p.Thr246=)
|
rs199779296
|
0.00300
|
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_031475.3(ESPN):c.1386A>G (p.Val462=)
|
rs150033799
|
0.00296
|
NM_002296.4(LBR):c.995C>T (p.Ala332Val)
|
rs141647564
|
0.00293
|
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_014252.4(SLC25A15):c.182G>A (p.Arg61His)
|
rs34615430
|
0.00292
|
NM_003126.4(SPTA1):c.1731G>T (p.Leu577Phe)
|
rs34211240
|
0.00291
|
NM_005529.7(HSPG2):c.9514-3C>T
|
rs114851424
|
0.00291
|
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_003114.5(SPAG1):c.1414A>G (p.Ile472Val)
|
rs373038988
|
0.00288
|
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu)
|
rs2285644
|
0.00284
|
NM_003978.5(PSTPIP1):c.236C>T (p.Ser79Phe)
|
rs77026017
|
0.00284
|
NM_005591.4(MRE11):c.1783+5G>C
|
rs142082313
|
0.00284
|
NM_000518.5(HBB):c.*96T>C
|
rs34029390
|
0.00283
|
NM_006506.5(RASA2):c.1603A>G (p.Ile535Val)
|
rs143035190
|
0.00283
|
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg)
|
rs137933390
|
0.00282
|
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val)
|
rs150140386
|
0.00280
|
NM_001184.4(ATR):c.7504-16A>G
|
rs111927479
|
0.00279
|
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala)
|
rs71524349
|
0.00279
|
NM_000057.4(BLM):c.1928G>A (p.Arg643His)
|
rs12720097
|
0.00278
|
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=)
|
rs141423593
|
0.00278
|
NM_001142864.4(PIEZO1):c.835G>A (p.Gly279Ser)
|
rs188815734
|
0.00277
|
NM_004563.4(PCK2):c.1756G>A (p.Gly586Ser)
|
rs61737098
|
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_001142864.4(PIEZO1):c.3935C>T (p.Ala1312Val)
|
rs34246477
|
0.00274
|
NM_001364905.1(LRBA):c.6448+17A>G
|
rs183652080
|
0.00274
|
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu)
|
rs34004222
|
0.00274
|
NM_016938.5(EFEMP2):c.368-11G>A
|
rs181514768
|
0.00272
|
NM_002439.5(MSH3):c.2511G>A (p.Leu837=)
|
rs149628160
|
0.00270
|
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys)
|
rs147689373
|
0.00269
|
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
|
rs1800553
|
0.00269
|
NM_001457.4(FLNB):c.362A>T (p.Tyr121Phe)
|
rs147846832
|
0.00269
|
NM_014391.3(ANKRD1):c.319G>T (p.Val107Leu)
|
rs114435632
|
0.00269
|
NM_001159773.2(CANT1):c.1172G>A (p.Gly391Glu)
|
rs34082669
|
0.00268
|
NM_006182.4(DDR2):c.1382C>T (p.Ser461Leu)
|
rs140710321
|
0.00268
|
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_022041.4(GAN):c.1502+11A>G
|
rs143413333
|
0.00263
|
NM_004958.4(MTOR):c.985G>A (p.Ala329Thr)
|
rs35903812
|
0.00262
|
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn)
|
rs140806722
|
0.00262
|
NM_005529.7(HSPG2):c.7511G>A (p.Arg2504His)
|
rs62642517
|
0.00261
|
NM_001457.4(FLNB):c.292+14C>G
|
rs200721532
|
0.00260
|
NM_003482.4(KMT2D):c.6629C>T (p.Pro2210Leu)
|
rs201190869
|
0.00260
|
NM_003126.4(SPTA1):c.1817A>G (p.Asp606Gly)
|
rs149441716
|
0.00259
|
NM_001077350.3(NPRL3):c.1024G>T (p.Val342Leu)
|
rs11558704
|
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_000541.5(SAG):c.734-18C>A
|
rs139840815
|
0.00256
|
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser)
|
rs138824667
|
0.00256
|
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile)
|
rs146102241
|
0.00255
|
NM_000018.4(ACADVL):c.1839G>A (p.Arg613=)
|
rs79125791
|
0.00254
|
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe)
|
rs104895500
|
0.00253
|
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala)
|
rs147356378
|
0.00252
|
NM_005548.3(KARS1):c.1674C>T (p.Leu558=)
|
rs143267922
|
0.00252
|
NM_001854.4(COL11A1):c.4185C>T (p.Val1395=)
|
rs112577505
|
0.00251
|
NM_002335.4(LRP5):c.4278T>C (p.Tyr1426=)
|
rs142328132
|
0.00250
|
NM_003114.5(SPAG1):c.1226C>G (p.Thr409Ser)
|
rs544372581
|
0.00250
|
NM_006371.5(CRTAP):c.1039C>T (p.Leu347Phe)
|
rs115198029
|
0.00250
|
NM_003126.4(SPTA1):c.3230G>A (p.Arg1077His)
|
rs199612744
|
0.00249
|
NM_001360.3(DHCR7):c.399C>T (p.Ala133=)
|
rs147424205
|
0.00248
|
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn)
|
rs111033369
|
0.00248
|
NM_001853.4(COL9A3):c.1549-4C>A
|
rs190389066
|
0.00247
|
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile)
|
rs28385141
|
0.00245
|
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)
|
rs148584617
|
0.00244
|
NM_000289.6(PFKM):c.1338G>A (p.Gly446=)
|
rs150378513
|
0.00243
|
NM_001711.6(BGN):c.357C>T (p.Leu119=)
|
rs146322407
|
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_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser)
|
rs149547196
|
0.00241
|
NM_030777.4(SLC2A10):c.1548G>T (p.Arg516=)
|
rs116344406
|
0.00241
|
NM_000557.5(GDF5):c.652A>C (p.Arg218=)
|
rs116467702
|
0.00240
|
NM_006231.4(POLE):c.4184A>G (p.Tyr1395Cys)
|
rs5744933
|
0.00240
|
NM_004444.5(EPHB4):c.1144G>A (p.Gly382Ser)
|
rs114926839
|
0.00239
|
NM_005529.7(HSPG2):c.10110G>A (p.Lys3370=)
|
rs141963344
|
0.00237
|
NM_000326.5(RLBP1):c.9A>C (p.Glu3Asp)
|
rs146844731
|
0.00236
|
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_003073.5(SMARCB1):c.628+13C>T
|
rs184021903
|
0.00235
|
NM_006904.7(PRKDC):c.5120T>A (p.Leu1707Gln)
|
rs202110076
|
0.00235
|
NM_001844.5(COL2A1):c.3151G>A (p.Ala1051Thr)
|
rs41272041
|
0.00234
|
NM_002439.5(MSH3):c.2732T>G (p.Leu911Trp)
|
rs41545019
|
0.00233
|
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_002473.6(MYH9):c.7C>G (p.Gln3Glu)
|
rs56200894
|
0.00231
|
NM_000465.4(BARD1):c.1977A>G (p.Arg659=)
|
rs147215925
|
0.00230
|
NM_001142864.4(PIEZO1):c.4580G>A (p.Arg1527His)
|
rs148870219
|
0.00229
|
NM_001457.4(FLNB):c.274A>G (p.Ile92Val)
|
rs62622011
|
0.00229
|
NM_000069.3(CACNA1S):c.1711G>A (p.Val571Ile)
|
rs114191482
|
0.00228
|
NM_001105206.3(LAMA4):c.5450T>C (p.Ile1817Thr)
|
rs144482486
|
0.00228
|
NM_001093.4(ACACB):c.134A>G (p.Gln45Arg)
|
rs139767464
|
0.00226
|
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val)
|
rs116355217
|
0.00225
|
NM_003978.5(PSTPIP1):c.786C>T (p.Asp262=)
|
rs35860563
|
0.00224
|
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)
|
rs62646863
|
0.00222
|
NM_000435.3(NOTCH3):c.2507C>T (p.Thr836Ile)
|
rs34338511
|
0.00222
|
NM_001355436.2(SPTB):c.1896A>G (p.Gln632=)
|
rs74056006
|
0.00222
|
NM_006506.5(RASA2):c.1020+20G>A
|
rs113251297
|
0.00222
|
NM_001375808.2(LPIN2):c.1735T>C (p.Ser579Pro)
|
rs150022314
|
0.00221
|
NM_002439.5(MSH3):c.1571A>C (p.Asn524Thr)
|
rs55724159
|
0.00220
|
NM_005529.7(HSPG2):c.9789C>A (p.Leu3263=)
|
rs137921473
|
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_003640.5(ELP1):c.2543C>A (p.Thr848Asn)
|
rs10979599
|
0.00218
|
NM_000152.5(GAA):c.2647-8C>T
|
rs139201641
|
0.00216
|
NM_000435.3(NOTCH3):c.2300G>A (p.Arg767His)
|
rs75291244
|
0.00213
|
NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro)
|
rs41268014
|
0.00213
|
NM_001303.4(COX10):c.1291C>T (p.Arg431Trp)
|
rs113058506
|
0.00212
|
NM_000091.5(COL4A3):c.4665G>A (p.Ala1555=)
|
rs200858199
|
0.00210
|
NM_001142864.4(PIEZO1):c.1998-10C>T
|
rs74033378
|
0.00209
|
NM_000540.3(RYR1):c.2121C>A (p.Gly707=)
|
rs146104858
|
0.00208
|
NM_004356.4(CD81):c.414T>C (p.Asp138=)
|
rs143644902
|
0.00208
|
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter)
|
rs61752842
|
0.00208
|
NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr)
|
rs139872140
|
0.00207
|
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln)
|
rs61889560
|
0.00207
|
NM_005529.7(HSPG2):c.7191G>A (p.Ala2397=)
|
rs2290499
|
0.00206
|
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val)
|
rs61733680
|
0.00204
|
NM_000289.6(PFKM):c.2199-12A>G
|
rs202008060
|
0.00204
|
NM_001365304.2(LOC112694756):c.*621+4C>T
|
rs200278984
|
0.00204
|
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val)
|
rs139142865
|
0.00203
|
NM_001005242.3(PKP2):c.2168-19T>A
|
rs527736735
|
0.00203
|
NM_001159773.2(CANT1):c.801C>T (p.Asn267=)
|
rs138199925
|
0.00202
|
NM_012073.5(CCT5):c.331+14A>T
|
rs201171003
|
0.00199
|
NM_001844.5(COL2A1):c.2046C>T (p.Asp682=)
|
rs41263851
|
0.00198
|
NM_005529.7(HSPG2):c.9327C>T (p.His3109=)
|
rs61743674
|
0.00195
|
NM_001142864.4(PIEZO1):c.985C>G (p.Leu329Val)
|
rs114507258
|
0.00194
|
NM_007272.3(CTRC):c.640-12G>A
|
rs183053579
|
0.00194
|
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg)
|
rs145169006
|
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_005340.7(HINT1):c.330C>T (p.His110=)
|
rs139624223
|
0.00191
|
NM_031427.4(DNAL1):c.415C>G (p.Leu139Val)
|
rs141873943
|
0.00191
|
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)
|
rs41303255
|
0.00190
|
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile)
|
rs56357060
|
0.00189
|
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln)
|
rs140621959
|
0.00188
|
NM_000188.3(HK1):c.1571-18C>T
|
rs75829368
|
0.00187
|
NM_002103.5(GYS1):c.300+8G>A
|
rs5454
|
0.00187
|
NM_000289.6(PFKM):c.702A>T (p.Pro234=)
|
rs138022863
|
0.00185
|
NM_001142864.4(PIEZO1):c.5883T>C (p.Tyr1961=)
|
rs115213894
|
0.00185
|
NM_001235.5(SERPINH1):c.722-13G>A
|
rs116506210
|
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_000208.4(INSR):c.1080C>T (p.Cys360=)
|
rs56066516
|
0.00183
|
NM_006767.4(LZTR1):c.741C>T (p.Ser247=)
|
rs114458679
|
0.00183
|
NM_000019.4(ACAT1):c.238+17C>T
|
rs199918672
|
0.00182
|
NM_144687.4(NLRP12):c.2227A>C (p.Lys743Gln)
|
rs74373537
|
0.00180
|
NM_000152.5(GAA):c.2332-12A>T
|
rs200965268
|
0.00178
|
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe)
|
rs45488304
|
0.00178
|
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly)
|
rs61754024
|
0.00178
|
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)
|
rs61751374
|
0.00178
|
NM_003036.4(SKI):c.1211+19C>T
|
rs182600375
|
0.00178
|
NM_006371.5(CRTAP):c.732C>T (p.Leu244=)
|
rs149119710
|
0.00178
|
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)
|
rs116373169
|
0.00177
|
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met)
|
rs142433309
|
0.00177
|
NM_001355436.2(SPTB):c.5463C>T (p.Pro1821=)
|
rs114513294
|
0.00176
|
NM_004086.3(COCH):c.841G>A (p.Asp281Asn)
|
rs28362775
|
0.00176
|
NM_033118.4(MYLK2):c.508G>A (p.Glu170Lys)
|
rs145656924
|
0.00175
|
NM_001353214.3(DYM):c.1717C>T (p.Leu573=)
|
rs145279594
|
0.00174
|
NM_053013.4(ENO3):c.86-10C>T
|
rs201571802
|
0.00174
|
NM_000188.3(HK1):c.2583C>T (p.Asp861=)
|
rs145610109
|
0.00172
|
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met)
|
rs56136489
|
0.00172
|
NM_001142864.4(PIEZO1):c.3969-12G>A
|
rs200317312
|
0.00171
|
NM_002296.4(LBR):c.866G>A (p.Gly289Glu)
|
rs148541545
|
0.00171
|
NM_002439.5(MSH3):c.1897-12T>A
|
rs56244266
|
0.00171
|
NM_001457.4(FLNB):c.6684C>T (p.Ile2228=)
|
rs138416613
|
0.00170
|
NM_002296.4(LBR):c.837+19T>A
|
rs77316576
|
0.00170
|
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln)
|
rs144800506
|
0.00170
|
NM_003126.4(SPTA1):c.748C>T (p.Arg250Cys)
|
rs143459302
|
0.00169
|
NM_022041.4(GAN):c.1445C>T (p.Ala482Val)
|
rs146576740
|
0.00169
|
NM_080680.3(COL11A2):c.329G>A (p.Arg110Gln)
|
rs145960317
|
0.00168
|
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr)
|
rs80116829
|
0.00167
|
NM_006231.4(POLE):c.6453C>T (p.Tyr2151=)
|
rs116076060
|
0.00167
|
NM_003978.5(PSTPIP1):c.657A>C (p.Gln219His)
|
rs139362350
|
0.00166
|
NM_002529.4(NTRK1):c.1354+18A>T
|
rs73004759
|
0.00164
|
NM_000298.6(PKLR):c.814C>G (p.Leu272Val)
|
rs147659527
|
0.00163
|
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val)
|
rs193922855
|
0.00163
|
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser)
|
rs11557600
|
0.00162
|
NM_001457.4(FLNB):c.6642C>T (p.Phe2214=)
|
rs140786324
|
0.00161
|
NM_001854.4(COL11A1):c.3729G>A (p.Gly1243=)
|
rs148395062
|
0.00161
|
NM_003126.4(SPTA1):c.7104G>T (p.Lys2368Asn)
|
rs112884419
|
0.00161
|
NM_144687.4(NLRP12):c.1063G>A (p.Glu355Lys)
|
rs143855597
|
0.00161
|
NM_004972.4(JAK2):c.3178-12_3178-11insC
|
rs533264615
|
0.00160
|
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln)
|
rs149772470
|
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_003126.4(SPTA1):c.5118C>T (p.His1706=)
|
rs200945419
|
0.00159
|
NM_153676.4(USH1C):c.2491-16C>T
|
rs200919289
|
0.00159
|
NM_000435.3(NOTCH3):c.3314G>C (p.Gly1105Ala)
|
rs143764521
|
0.00158
|
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln)
|
rs150555106
|
0.00158
|
NM_001164688.2(RD3):c.494A>C (p.Asp165Ala)
|
rs149051185
|
0.00158
|
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr)
|
rs142054672
|
0.00157
|
NM_001142864.4(PIEZO1):c.4363G>A (p.Ala1455Thr)
|
rs191656121
|
0.00156
|
NM_001142864.4(PIEZO1):c.64+17C>T
|
rs577170711
|
0.00156
|
NM_002335.4(LRP5):c.2295G>A (p.Ser765=)
|
rs140955013
|
0.00156
|
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met)
|
rs41292782
|
0.00155
|
NM_002335.4(LRP5):c.4623G>A (p.Thr1541=)
|
rs139974816
|
0.00155
|
NM_021629.4(GNB4):c.186T>C (p.His62=)
|
rs149798652
|
0.00155
|
NM_000463.3(UGT1A1):c.141C>T (p.Ile47=)
|
rs34526305
|
0.00154
|
NM_003200.5(TCF3):c.750G>A (p.Pro250=)
|
rs201703361
|
0.00154
|
NM_005422.4(TECTA):c.5160C>T (p.Asp1720=)
|
rs142657158
|
0.00154
|
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn)
|
rs142155101
|
0.00153
|
NM_001498.4(GCLC):c.1039G>A (p.Asp347Asn)
|
rs80120302
|
0.00153
|
NM_016239.4(MYO15A):c.1111C>A (p.Pro371Thr)
|
rs200382813
|
0.00153
|
NM_005591.4(MRE11):c.822T>C (p.Leu274=)
|
rs137868143
|
0.00152
|
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)
|
rs181250704
|
0.00151
|
NM_001159773.2(CANT1):c.56G>A (p.Arg19Gln)
|
rs144060377
|
0.00151
|
NM_001291303.3(FAT4):c.5921-14C>T
|
rs190218898
|
0.00151
|
NM_021167.5(GATAD1):c.762G>A (p.Gly254=)
|
rs139637606
|
0.00151
|
NM_000188.3(HK1):c.375+19C>T
|
rs202035445
|
0.00150
|
NM_000637.5(GSR):c.866T>C (p.Val289Ala)
|
rs151187899
|
0.00150
|
NM_001355436.2(SPTB):c.5651C>T (p.Ala1884Val)
|
rs148337824
|
0.00150
|
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)
|
rs111033218
|
0.00150
|
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)
|
rs72552259
|
0.00149
|
NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp)
|
rs142486386
|
0.00149
|
NM_000355.4(TCN2):c.138C>T (p.Ser46=)
|
rs143250551
|
0.00148
|
NM_000152.5(GAA):c.692+17G>C
|
rs199559553
|
0.00147
|
NM_000883.4(IMPDH1):c.1489C>T (p.Arg497Trp)
|
rs72624967
|
0.00147
|
NM_015404.4(WHRN):c.1048C>T (p.Arg350Trp)
|
rs142990800
|
0.00147
|
NM_003126.4(SPTA1):c.5256G>A (p.Leu1752=)
|
rs141683960
|
0.00146
|
NM_000398.7(CYB5R3):c.890G>A (p.Arg297His)
|
rs76458556
|
0.00145
|
NM_000435.3(NOTCH3):c.6237G>A (p.Gly2079=)
|
rs376598183
|
0.00145
|
NM_000518.5(HBB):c.432C>T (p.His144=)
|
rs36020563
|
0.00145
|
NM_001291303.3(FAT4):c.5275A>G (p.Ile1759Val)
|
rs145639192
|
0.00145
|
NM_013296.5(GPSM2):c.1739C>T (p.Ser580Leu)
|
rs79730689
|
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_000316.3(PTH1R):c.1353+17C>T
|
rs202140438
|
0.00143
|
NM_004086.3(COCH):c.1204A>G (p.Ile402Val)
|
rs28362778
|
0.00143
|
NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr)
|
rs117502839
|
0.00143
|
NM_001853.4(COL9A3):c.237G>A (p.Pro79=)
|
rs141960487
|
0.00142
|
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_015404.4(WHRN):c.19G>C (p.Gly7Arg)
|
rs572671060
|
0.00141
|
NM_000335.5(SCN5A):c.3246C>T (p.Ser1082=)
|
rs111422496
|
0.00140
|
NM_001355436.2(SPTB):c.2881G>A (p.Val961Ile)
|
rs149316006
|
0.00140
|
NM_001142864.4(PIEZO1):c.3813C>T (p.Asp1271=)
|
rs116683709
|
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_005422.4(TECTA):c.3492C>T (p.Thr1164=)
|
rs144012985
|
0.00138
|
NM_001145809.2(MYH14):c.5573G>A (p.Arg1858His)
|
rs11882073
|
0.00137
|
NM_000316.3(PTH1R):c.988+16G>A
|
rs140651831
|
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_022124.6(CDH23):c.2239C>T (p.Arg747Cys)
|
rs200649500
|
0.00136
|
NM_000355.4(TCN2):c.296A>C (p.Lys99Thr)
|
rs150225103
|
0.00135
|
NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys)
|
rs141280063
|
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_000179.3(MSH6):c.3647-6T>A
|
rs182871847
|
0.00134
|
NM_000355.4(TCN2):c.428-4T>C
|
rs201408393
|
0.00134
|
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu)
|
rs148002300
|
0.00134
|
NM_003126.4(SPTA1):c.1982G>A (p.Arg661His)
|
rs201845149
|
0.00134
|
NM_014920.5(CILK1):c.666T>C (p.Thr222=)
|
rs139739780
|
0.00133
|
NM_001364905.1(LRBA):c.4591T>G (p.Phe1531Val)
|
rs114610541
|
0.00131
|
NM_002878.4(RAD51D):c.666A>G (p.Glu222=)
|
rs114012742
|
0.00131
|
NM_005529.7(HSPG2):c.204C>A (p.Asp68Glu)
|
rs1869780
|
0.00131
|
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn)
|
rs201386977
|
0.00131
|
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg)
|
rs45527543
|
0.00130
|
NM_001322934.2(NFKB2):c.2145G>A (p.Ser715=)
|
rs200006038
|
0.00128
|
NM_001844.5(COL2A1):c.85+10C>G
|
rs769941617
|
0.00128
|
NM_002626.6(PFKL):c.2209C>T (p.Arg737Trp)
|
rs118106526
|
0.00128
|
NM_031443.4(CCM2):c.980A>G (p.Asn327Ser)
|
rs150428392
|
0.00128
|
NM_001364905.1(LRBA):c.2340A>G (p.Thr780=)
|
rs79392371
|
0.00127
|
NM_001029883.3(PCARE):c.530C>T (p.Pro177Leu)
|
rs190791051
|
0.00126
|
NM_001040716.2(PC):c.616G>T (p.Val206Leu)
|
rs147945506
|
0.00126
|
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro)
|
rs61735272
|
0.00126
|
NM_001783.4(CD79A):c.419C>A (p.Thr140Asn)
|
rs148797987
|
0.00126
|
NM_144687.4(NLRP12):c.1731G>A (p.Lys577=)
|
rs73608454
|
0.00126
|
NM_003126.4(SPTA1):c.6132G>C (p.Leu2044=)
|
rs186987240
|
0.00125
|
NM_006231.4(POLE):c.6675C>T (p.Arg2225=)
|
rs149973644
|
0.00125
|
NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala)
|
rs150149784
|
0.00124
|
NM_001243177.4(ALDOA):c.648C>G (p.Leu216=)
|
rs112110009
|
0.00124
|
NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe)
|
rs200542052
|
0.00124
|
NM_000091.5(COL4A3):c.2886C>T (p.Phe962=)
|
rs77846212
|
0.00123
|
NM_002878.4(RAD51D):c.263+1588A>G
|
rs180869630
|
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_005529.7(HSPG2):c.10280G>A (p.Arg3427Gln)
|
rs142939330
|
0.00122
|
NM_005529.7(HSPG2):c.11169C>T (p.Phe3723=)
|
rs139033413
|
0.00122
|
NM_001127217.3(SMAD9):c.65T>C (p.Leu22Pro)
|
rs111748421
|
0.00121
|
NM_001291303.3(FAT4):c.8021A>T (p.Asp2674Val)
|
rs138655269
|
0.00121
|
NM_001377229.1(DISP1):c.1322C>T (p.Thr441Met)
|
rs114523965
|
0.00120
|
NM_001386795.1(DTNA):c.1000G>A (p.Val334Met)
|
rs148123045
|
0.00120
|
NM_001184.4(ATR):c.2776T>C (p.Phe926Leu)
|
rs141783863
|
0.00119
|
NM_001378454.1(ALMS1):c.945T>C (p.Ser315=)
|
rs183390773
|
0.00119
|
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser)
|
rs141541387
|
0.00119
|
NM_000152.5(GAA):c.1830C>T (p.Ala610=)
|
rs61736896
|
0.00118
|
NM_002529.4(NTRK1):c.865C>A (p.Gln289Lys)
|
rs137979116
|
0.00118
|
NM_000293.3(PHKB):c.1459-9G>T
|
rs201995780
|
0.00117
|
NM_003126.4(SPTA1):c.3062A>T (p.Asp1021Val)
|
rs200511900
|
0.00117
|
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=)
|
rs111967655
|
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_000335.5(SCN5A):c.1236C>T (p.Val412=)
|
rs45565936
|
0.00114
|
NM_001355436.2(SPTB):c.4670A>G (p.Glu1557Gly)
|
rs140648376
|
0.00113
|
NM_016204.4(GDF2):c.352A>T (p.Ile118Phe)
|
rs144456901
|
0.00113
|
NM_001142864.4(PIEZO1):c.7374C>G (p.Phe2458Leu)
|
rs202127176
|
0.00112
|
NM_003126.4(SPTA1):c.174C>T (p.Phe58=)
|
rs190704778
|
0.00110
|
NM_000478.6(ALPL):c.182-15C>G
|
rs201873253
|
0.00109
|
NM_001142864.4(PIEZO1):c.7180G>A (p.Gly2394Ser)
|
rs201950081
|
0.00109
|
NM_005591.4(MRE11):c.426C>T (p.Asp142=)
|
rs3218740
|
0.00109
|
NM_020435.4(GJC2):c.1193C>T (p.Thr398Ile)
|
rs140942230
|
0.00109
|
NM_001127671.2(LIFR):c.670A>G (p.Ile224Val)
|
rs151282774
|
0.00108
|
NM_003126.4(SPTA1):c.2600C>A (p.Ala867Glu)
|
rs115877891
|
0.00108
|
NM_005529.7(HSPG2):c.149A>T (p.His50Leu)
|
rs138518139
|
0.00108
|
NM_006254.4(PRKCD):c.603C>T (p.Ile201=)
|
rs75794462
|
0.00108
|
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser)
|
rs147307031
|
0.00107
|
NM_001142864.4(PIEZO1):c.2815C>A (p.Leu939Met)
|
rs201226914
|
0.00107
|
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)
|
rs34988750
|
0.00107
|
NM_021939.4(FKBP10):c.1256C>T (p.Ser419Leu)
|
rs146422412
|
0.00107
|
NM_001282426.2(PIK3CG):c.1722G>A (p.Leu574=)
|
rs144082858
|
0.00106
|
NM_020070.4(IGLL1):c.616A>T (p.Thr206Ser)
|
rs139491925
|
0.00106
|
NM_000435.3(NOTCH3):c.4737-19C>T
|
rs180755159
|
0.00105
|
NM_001142864.4(PIEZO1):c.6822C>T (p.Ser2274=)
|
rs35686439
|
0.00105
|
NM_001844.5(COL2A1):c.709-8G>T
|
rs200757693
|
0.00105
|
NM_003126.4(SPTA1):c.373G>A (p.Ala125Thr)
|
rs201771255
|
0.00105
|
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala)
|
rs113107803
|
0.00105
|
NM_006904.7(PRKDC):c.4435G>C (p.Val1479Leu)
|
rs199731143
|
0.00104
|
NM_016938.5(EFEMP2):c.139C>T (p.Pro47Ser)
|
rs144320036
|
0.00104
|
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe)
|
rs41305898
|
0.00104
|
NM_001142864.4(PIEZO1):c.1270T>C (p.Tyr424His)
|
rs759627248
|
0.00103
|
NM_001355436.2(SPTB):c.1838G>T (p.Ser613Ile)
|
rs3742601
|
0.00103
|
NM_022356.4(P3H1):c.1504G>C (p.Gly502Arg)
|
rs139259804
|
0.00103
|
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_206933.4(USH2A):c.7060C>T (p.Arg2354Cys)
|
rs111033508
|
0.00102
|
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)
|
rs191312027
|
0.00101
|
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_001355436.2(SPTB):c.2060G>A (p.Arg687His)
|
rs3742602
|
0.00101
|
NM_003126.4(SPTA1):c.2655T>C (p.Arg885=)
|
rs368544526
|
0.00101
|
NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=)
|
rs148688181
|
0.00100
|
NM_005529.7(HSPG2):c.11671+11C>T
|
rs368204073
|
0.00100
|
NM_020070.4(IGLL1):c.437C>T (p.Thr146Met)
|
rs112775194
|
0.00100
|
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile)
|
rs143301610
|
0.00100
|
NM_000518.5(HBB):c.316-70C>G
|
rs193922560
|
0.00099
|
NM_201596.3(CACNB2):c.1560T>C (p.Pro520=)
|
rs150280879
|
0.00099
|
NM_206933.4(USH2A):c.4796G>A (p.Gly1599Asp)
|
rs148153079
|
0.00099
|
NM_000463.3(UGT1A1):c.326T>C (p.Val109Ala)
|
rs144217005
|
0.00098
|
NM_003126.4(SPTA1):c.3357G>C (p.Lys1119Asn)
|
rs200230894
|
0.00098
|
NM_015404.4(WHRN):c.1943C>A (p.Ser648Tyr)
|
rs142653982
|
0.00098
|
NM_007272.3(CTRC):c.555G>A (p.Thr185=)
|
rs113087202
|
0.00097
|
NM_005529.7(HSPG2):c.12072C>T (p.Asp4024=)
|
rs146167897
|
0.00096
|
NM_007272.3(CTRC):c.494-6C>T
|
rs111790169
|
0.00096
|
NM_002335.4(LRP5):c.263A>G (p.Lys88Arg)
|
rs78219242
|
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_016616.5(NME8):c.610A>G (p.Ile204Val)
|
rs146777129
|
0.00094
|
NM_032447.5(FBN3):c.3088G>A (p.Asp1030Asn)
|
rs142237067
|
0.00094
|
NM_022041.4(GAN):c.283-20T>C
|
rs371984923
|
0.00093
|
NM_003126.4(SPTA1):c.4591G>C (p.Ala1531Pro)
|
rs143779235
|
0.00092
|
NM_000283.4(PDE6B):c.145G>T (p.Asp49Tyr)
|
rs79826315
|
0.00091
|
NM_001457.4(FLNB):c.2453G>A (p.Arg818Gln)
|
rs151259375
|
0.00091
|
NM_001530.4(HIF1A):c.1045G>A (p.Asp349Asn)
|
rs142179458
|
0.00091
|
NM_003126.4(SPTA1):c.4694T>A (p.Leu1565Gln)
|
rs202217097
|
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_001844.5(COL2A1):c.2831C>T (p.Pro944Leu)
|
rs140368756
|
0.00090
|
NM_006005.3(WFS1):c.683G>A (p.Arg228His)
|
rs150771247
|
0.00090
|
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg)
|
rs141978499
|
0.00088
|
NM_002234.4(KCNA5):c.634C>T (p.Arg212Cys)
|
rs77281462
|
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_001142864.4(PIEZO1):c.4668+12C>T
|
rs368128554
|
0.00087
|
NM_001291303.3(FAT4):c.3682C>G (p.Gln1228Glu)
|
rs200227715
|
0.00087
|
NM_000053.4(ATP7B):c.2174G>A (p.Arg725Lys)
|
rs115227204
|
0.00086
|
NM_000535.7(PMS2):c.251-20T>G
|
rs149343081
|
0.00086
|
NM_001844.5(COL2A1):c.507C>T (p.Pro169=)
|
rs143851987
|
0.00086
|
NM_005529.7(HSPG2):c.8381G>A (p.Arg2794Gln)
|
rs141563188
|
0.00086
|
NM_001384140.1(PCDH15):c.949T>A (p.Ser317Thr)
|
rs140736502
|
0.00085
|
NM_016938.5(EFEMP2):c.934A>G (p.Thr312Ala)
|
rs148410446
|
0.00085
|
NM_001142864.4(PIEZO1):c.5874C>T (p.Thr1958=)
|
rs150214594
|
0.00084
|
NM_000398.7(CYB5R3):c.637G>A (p.Glu213Lys)
|
rs61745147
|
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_003640.5(ELP1):c.3869A>G (p.Asn1290Ser)
|
rs145319352
|
0.00083
|
NM_004086.3(COCH):c.1348A>G (p.Ile450Val)
|
rs139503327
|
0.00083
|
NM_005529.7(HSPG2):c.7096G>A (p.Gly2366Arg)
|
rs140476180
|
0.00083
|
NM_005529.7(HSPG2):c.8941G>A (p.Val2981Ile)
|
rs2229490
|
0.00083
|
NM_006005.3(WFS1):c.2195G>A (p.Arg732His)
|
rs149013740
|
0.00083
|
NM_006231.4(POLE):c.139C>T (p.Arg47Trp)
|
rs143626223
|
0.00082
|
NM_000142.5(FGFR3):c.1923C>T (p.Asp641=)
|
rs148104605
|
0.00081
|
NM_000352.6(ABCC8):c.4198+18C>T
|
rs373178978
|
0.00081
|
NM_000435.3(NOTCH3):c.1607-5C>A
|
rs372869012
|
0.00081
|
NM_194248.3(OTOF):c.4463A>T (p.Asp1488Val)
|
rs142284613
|
0.00081
|
NM_000540.3(RYR1):c.10119G>A (p.Val3373=)
|
rs140689610
|
0.00079
|
NM_001291415.2(KDM6A):c.1907C>T (p.Thr636Met)
|
rs141353229
|
0.00079
|
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=)
|
rs373081328
|
0.00078
|
NM_000209.4(PDX1):c.165C>A (p.Gly55=)
|
rs530567443
|
0.00078
|
NM_000283.4(PDE6B):c.1497T>G (p.Phe499Leu)
|
rs150000610
|
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_005529.7(HSPG2):c.11827G>A (p.Ala3943Thr)
|
rs116630187
|
0.00078
|
NM_006254.4(PRKCD):c.315+9C>A
|
rs200076653
|
0.00078
|
NM_015404.4(WHRN):c.2438C>T (p.Thr813Met)
|
rs143728180
|
0.00078
|
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)
|
rs181255269
|
0.00078
|
NM_000302.4(PLOD1):c.1582G>A (p.Glu528Lys)
|
rs112250644
|
0.00077
|
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)
|
rs111033212
|
0.00077
|
NM_001142864.4(PIEZO1):c.5291A>C (p.Glu1764Ala)
|
rs530387460
|
0.00077
|
NM_002335.4(LRP5):c.1413-7T>A
|
rs141889567
|
0.00077
|
NM_002972.4(SBF1):c.3760C>T (p.Arg1254Cys)
|
rs200180227
|
0.00077
|
NM_003737.4(DCHS1):c.704G>A (p.Arg235Gln)
|
rs143767864
|
0.00077
|
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=)
|
rs148058006
|
0.00077
|
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=)
|
rs111033525
|
0.00077
|
NM_000398.7(CYB5R3):c.471C>T (p.Phe157=)
|
rs149158903
|
0.00076
|
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp)
|
rs137853247
|
0.00076
|
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=)
|
rs144807538
|
0.00076
|
NM_003482.4(KMT2D):c.3737C>T (p.Thr1246Met)
|
rs112921115
|
0.00076
|
NM_005529.7(HSPG2):c.4568G>A (p.Arg1523His)
|
rs147633715
|
0.00075
|
NM_000316.3(PTH1R):c.313+4C>T
|
rs200207404
|
0.00074
|
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln)
|
rs139306043
|
0.00074
|
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His)
|
rs200641606
|
0.00073
|
NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile)
|
rs41263847
|
0.00073
|
NM_003126.4(SPTA1):c.4564A>G (p.Thr1522Ala)
|
rs201910178
|
0.00073
|
NM_006231.4(POLE):c.3718G>A (p.Glu1240Lys)
|
rs113594027
|
0.00073
|
NM_016239.4(MYO15A):c.3196G>C (p.Ala1066Pro)
|
rs199537186
|
0.00073
|
NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu)
|
rs1805125
|
0.00071
|
NM_001145809.2(MYH14):c.394G>A (p.Gly132Ser)
|
rs199910006
|
0.00071
|
NM_001184.4(ATR):c.2226T>C (p.Cys742=)
|
rs147895945
|
0.00071
|
NM_006231.4(POLE):c.6004+11A>G
|
rs201591857
|
0.00071
|
NM_004984.4(KIF5A):c.1419G>A (p.Leu473=)
|
rs139091551
|
0.00070
|
NM_005529.7(HSPG2):c.11671+5G>A
|
rs77527456
|
0.00070
|
NM_000637.5(GSR):c.694G>A (p.Gly232Ser)
|
rs8190976
|
0.00069
|
NM_001142864.4(PIEZO1):c.2685C>T (p.Asn895=)
|
rs533555270
|
0.00069
|
NM_002225.5(IVD):c.891G>A (p.Ala297=)
|
rs138427412
|
0.00069
|
NM_001142864.4(PIEZO1):c.1591C>T (p.Arg531Cys)
|
rs146505418
|
0.00068
|
NM_001355436.2(SPTB):c.1606G>A (p.Asp536Asn)
|
rs145675502
|
0.00068
|
NM_001854.4(COL11A1):c.489-7T>G
|
rs372555374
|
0.00068
|
NM_003126.4(SPTA1):c.4862T>A (p.Phe1621Tyr)
|
rs374298000
|
0.00068
|
NM_173477.5(USH1G):c.1012G>A (p.Gly338Arg)
|
rs151242039
|
0.00068
|
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala)
|
rs63751005
|
0.00067
|
NM_001142864.4(PIEZO1):c.1688C>T (p.Thr563Met)
|
rs192347853
|
0.00067
|
NM_001844.5(COL2A1):c.3384C>T (p.Gly1128=)
|
rs145884117
|
0.00067
|
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr)
|
rs515726209
|
0.00067
|
NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp)
|
rs148033154
|
0.00067
|
NM_000179.3(MSH6):c.1665A>G (p.Ala555=)
|
rs146785465
|
0.00066
|
NM_001379180.1(ESRRB):c.*1517C>T
|
rs201726554
|
0.00066
|
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser)
|
rs139203363
|
0.00066
|
NM_003126.4(SPTA1):c.3389A>G (p.Asn1130Ser)
|
rs202016242
|
0.00066
|
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn)
|
rs146309392
|
0.00066
|
NM_005529.7(HSPG2):c.9564G>C (p.Gln3188His)
|
rs149644947
|
0.00066
|
NM_181776.3(SLC36A2):c.1411G>A (p.Asp471Asn)
|
rs140682366
|
0.00066
|
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu)
|
rs41276525
|
0.00065
|
NM_001355436.2(SPTB):c.2519G>A (p.Arg840His)
|
rs146326769
|
0.00065
|
NM_005529.7(HSPG2):c.3794-3C>A
|
rs141000672
|
0.00065
|
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp)
|
rs41557217
|
0.00064
|
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)
|
rs33947415
|
0.00064
|
NM_006579.3(EBP):c.511C>T (p.Arg171Cys)
|
rs141925556
|
0.00064
|
NM_003060.4(SLC22A5):c.1579G>C (p.Val527Leu)
|
rs145792427
|
0.00063
|
NM_005529.7(HSPG2):c.10609G>A (p.Gly3537Arg)
|
rs145048530
|
0.00063
|
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly)
|
rs141619382
|
0.00063
|
NM_006254.4(PRKCD):c.1447C>T (p.Arg483Trp)
|
rs35891605
|
0.00063
|
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe)
|
rs111033333
|
0.00063
|
NM_001142864.4(PIEZO1):c.6661-12T>G
|
rs540049109
|
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_001291303.3(FAT4):c.5792A>G (p.Tyr1931Cys)
|
rs139716832
|
0.00061
|
NM_002473.6(MYH9):c.4344+10C>T
|
rs200977419
|
0.00061
|
NM_002529.4(NTRK1):c.602C>A (p.Pro201His)
|
rs146201511
|
0.00061
|
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr)
|
rs138607917
|
0.00061
|
NM_206933.4(USH2A):c.6924A>G (p.Ala2308=)
|
rs148504065
|
0.00061
|
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln)
|
rs137853242
|
0.00060
|
NM_001142864.4(PIEZO1):c.3699+6C>T
|
rs147726156
|
0.00060
|
NM_007272.3(CTRC):c.640-14C>T
|
rs202049497
|
0.00060
|
NM_032119.4(ADGRV1):c.14761G>A (p.Ala4921Thr)
|
rs200115167
|
0.00060
|
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys)
|
rs63750897
|
0.00059
|
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala)
|
rs146176004
|
0.00059
|
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys)
|
rs199587998
|
0.00059
|
NM_000518.5(HBB):c.316-37G>T
|
rs193922559
|
0.00058
|
NM_001142864.4(PIEZO1):c.4955+8C>T
|
rs533263001
|
0.00058
|
NM_001142864.4(PIEZO1):c.6905G>A (p.Arg2302His)
|
rs200555745
|
0.00058
|
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile)
|
rs149425237
|
0.00057
|
NM_001032386.2(SUOX):c.228G>T (p.Arg76Ser)
|
rs202085145
|
0.00057
|
NM_014797.3(ZBTB24):c.1688T>C (p.Ile563Thr)
|
rs142830104
|
0.00057
|
NM_201596.3(CACNB2):c.1592G>A (p.Arg531His)
|
rs184280124
|
0.00057
|
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser)
|
rs35130237
|
0.00056
|
NM_000342.4(SLC4A1):c.2340G>A (p.Leu780=)
|
rs139912334
|
0.00056
|
NM_000518.4(HBB):c.*138T>G
|
rs560643693
|
0.00056
|
NM_001142864.4(PIEZO1):c.3437C>T (p.Pro1146Leu)
|
rs538640563
|
0.00056
|
NM_001142864.4(PIEZO1):c.997C>T (p.Arg333Cys)
|
rs143004911
|
0.00056
|
NM_001159773.2(CANT1):c.1063G>A (p.Asp355Asn)
|
rs145516713
|
0.00056
|
NM_001291303.3(FAT4):c.12769G>A (p.Glu4257Lys)
|
rs143513466
|
0.00056
|
NM_004004.6(GJB2):c.-22-2A>C
|
rs201895089
|
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_006371.5(CRTAP):c.655G>A (p.Gly219Ser)
|
rs145048208
|
0.00056
|
NM_004304.5(ALK):c.469C>T (p.Pro157Ser)
|
rs74774946
|
0.00055
|
NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg)
|
rs28931583
|
0.00054
|
NM_003126.4(SPTA1):c.7068A>C (p.Glu2356Asp)
|
rs78598639
|
0.00054
|
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val)
|
rs146303208
|
0.00053
|
NM_000069.3(CACNA1S):c.3628G>A (p.Gly1210Arg)
|
rs148870919
|
0.00053
|
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu)
|
rs34946978
|
0.00053
|
NM_002472.3(MYH8):c.1731G>C (p.Glu577Asp)
|
rs75160168
|
0.00053
|
NM_006231.4(POLE):c.6495C>T (p.Arg2165=)
|
rs114778730
|
0.00053
|
NM_080680.3(COL11A2):c.3975G>A (p.Ser1325=)
|
rs139564431
|
0.00053
|
NM_000124.4(ERCC6):c.2741C>T (p.Thr914Met)
|
rs142580756
|
0.00052
|
NM_000016.6(ACADM):c.600-18G>A
|
rs370523609
|
0.00051
|
NM_000016.6(ACADM):c.666C>A (p.Phe222Leu)
|
rs139457557
|
0.00051
|
NM_000095.3(COMP):c.218-7C>G
|
rs554031979
|
0.00051
|
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu)
|
rs121912759
|
0.00051
|
NM_001366110.1(PAX4):c.116G>A (p.Arg39Gln)
|
rs115887120
|
0.00051
|
NM_001375808.2(LPIN2):c.1043C>T (p.Pro348Leu)
|
rs34676691
|
0.00051
|
NM_016239.4(MYO15A):c.877G>A (p.Asp293Asn)
|
rs201415651
|
0.00051
|
NM_001005242.3(PKP2):c.1379-2109G>A
|
rs139159464
|
0.00050
|
NM_001142864.4(PIEZO1):c.4274G>A (p.Ser1425Asn)
|
rs772788410
|
0.00050
|
NM_001167.4(XIAP):c.1408A>T (p.Thr470Ser)
|
rs143165174
|
0.00050
|
NM_003126.4(SPTA1):c.4711T>G (p.Cys1571Gly)
|
rs201601992
|
0.00049
|
NM_003978.5(PSTPIP1):c.1213C>T (p.Arg405Cys)
|
rs201253322
|
0.00049
|
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile)
|
rs149159881
|
0.00049
|
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val)
|
rs200911496
|
0.00048
|
NM_000142.5(FGFR3):c.1959+8C>T
|
rs371666188
|
0.00048
|
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)
|
rs61750641
|
0.00048
|
NM_001039213.4(CEACAM16):c.781G>A (p.Glu261Lys)
|
rs201188632
|
0.00048
|
NM_001355436.2(SPTB):c.4075C>T (p.Arg1359Trp)
|
rs189656371
|
0.00048
|
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val)
|
rs201819880
|
0.00048
|
NM_006231.4(POLE):c.5659G>A (p.Val1887Met)
|
rs114119067
|
0.00047
|
NM_206933.4(USH2A):c.12241C>T (p.Arg4081Trp)
|
rs144783615
|
0.00047
|
NM_003036.4(SKI):c.1734C>T (p.Ser578=)
|
rs117443908
|
0.00046
|
NM_003322.6(TULP1):c.823-4A>G
|
rs200264819
|
0.00046
|
NM_007272.3(CTRC):c.231-14C>T
|
rs374364850
|
0.00046
|
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met)
|
rs199988872
|
0.00046
|
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=)
|
rs200996053
|
0.00045
|
NM_000335.5(SCN5A):c.2437-5C>A
|
rs72549411
|
0.00045
|
NM_001142864.4(PIEZO1):c.6804G>A (p.Ala2268=)
|
rs371847339
|
0.00045
|
NM_001355436.2(SPTB):c.5942G>A (p.Arg1981His)
|
rs146513976
|
0.00045
|
NM_003126.4(SPTA1):c.3742C>T (p.Arg1248Trp)
|
rs200714808
|
0.00045
|
NM_000342.4(SLC4A1):c.457C>A (p.Leu153Met)
|
rs145041032
|
0.00044
|
NM_001114134.2(EPB42):c.581G>A (p.Arg194His)
|
rs146348439
|
0.00044
|
NM_080680.3(COL11A2):c.706C>T (p.Pro236Ser)
|
rs35116188
|
0.00044
|
NM_000335.5(SCN5A):c.1479G>A (p.Arg493=)
|
rs138870926
|
0.00043
|
NM_000435.3(NOTCH3):c.2411-11C>A
|
rs201130717
|
0.00043
|
NM_001235.5(SERPINH1):c.97G>C (p.Ala33Pro)
|
rs150061926
|
0.00043
|
NM_001457.4(FLNB):c.4058C>G (p.Thr1353Ser)
|
rs142718547
|
0.00043
|
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr)
|
rs201082652
|
0.00043
|
NM_001114753.3(ENG):c.687C>T (p.Ala229=)
|
rs376919650
|
0.00042
|
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys)
|
rs144076460
|
0.00042
|
NM_153676.4(USH1C):c.1430G>A (p.Arg477Gln)
|
rs146333270
|
0.00042
|
NM_000053.4(ATP7B):c.1687G>A (p.Asp563Asn)
|
rs199875471
|
0.00041
|
NM_000435.3(NOTCH3):c.3629G>A (p.Arg1210His)
|
rs35031555
|
0.00041
|
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys)
|
rs199601548
|
0.00041
|
NM_001142864.4(PIEZO1):c.3434T>C (p.Val1145Ala)
|
rs550993341
|
0.00041
|
NM_003978.5(PSTPIP1):c.203C>T (p.Thr68Met)
|
rs201872851
|
0.00041
|
NM_005428.4(VAV1):c.2161A>T (p.Met721Leu)
|
rs149330066
|
0.00041
|
NM_144687.4(NLRP12):c.2927+11G>A
|
rs376043494
|
0.00041
|
NM_000065.5(C6):c.186A>C (p.Glu62Asp)
|
rs200359838
|
0.00040
|
NM_000298.6(PKLR):c.92C>T (p.Ala31Val)
|
rs150077703
|
0.00040
|
NM_001114753.3(ENG):c.-9G>A
|
rs368423516
|
0.00040
|
NM_005529.7(HSPG2):c.4396-5C>T
|
rs117917442
|
0.00040
|
NM_022124.6(CDH23):c.2128A>G (p.Ile710Val)
|
rs367750869
|
0.00040
|
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp)
|
rs146379816
|
0.00039
|
NM_000535.7(PMS2):c.1560G>A (p.Ala520=)
|
rs201167814
|
0.00039
|
NM_001876.4(CPT1A):c.336C>T (p.Thr112=)
|
rs61731902
|
0.00039
|
NM_003126.4(SPTA1):c.2608G>A (p.Val870Met)
|
rs140291959
|
0.00039
|
NM_003244.4(TGIF1):c.723G>A (p.Pro241=)
|
rs114912664
|
0.00039
|
NM_000251.3(MSH2):c.1511-41G>C
|
rs202215396
|
0.00038
|
NM_001142864.4(PIEZO1):c.1112T>G (p.Val371Gly)
|
rs191302762
|
0.00038
|
NM_001375808.2(LPIN2):c.446C>T (p.Pro149Leu)
|
rs147615538
|
0.00038
|
NM_016204.4(GDF2):c.917G>A (p.Gly306Asp)
|
rs145635235
|
0.00038
|
NM_000249.4(MLH1):c.977T>C (p.Val326Ala)
|
rs63751049
|
0.00037
|
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser)
|
rs140825795
|
0.00037
|
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val)
|
rs200512504
|
0.00037
|
NM_000435.3(NOTCH3):c.1194C>T (p.Gly398=)
|
rs140368657
|
0.00036
|
NM_000435.3(NOTCH3):c.3658C>T (p.Arg1220Trp)
|
rs115872852
|
0.00036
|
NM_001134363.3(RBM20):c.2887A>G (p.Lys963Glu)
|
rs371951525
|
0.00036
|
NM_001142864.4(PIEZO1):c.2590G>A (p.Val864Ile)
|
rs565096713
|
0.00036
|
NM_001142864.4(PIEZO1):c.4252T>C (p.Tyr1418His)
|
rs147153006
|
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_194248.3(OTOF):c.5292-9C>T
|
rs372713647
|
0.00036
|
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)
|
rs190598500
|
0.00035
|
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=)
|
rs150237416
|
0.00035
|
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)
|
rs199946797
|
0.00035
|
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys)
|
rs41281336
|
0.00035
|
NM_032119.4(ADGRV1):c.5295C>G (p.Phe1765Leu)
|
rs201388114
|
0.00035
|
NM_000018.4(ACADVL):c.68G>A (p.Arg23Gln)
|
rs34153370
|
0.00034
|
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg)
|
rs199473182
|
0.00034
|
NM_000335.5(SCN5A):c.5709G>A (p.Ser1903=)
|
rs376826051
|
0.00034
|
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly)
|
rs35003977
|
0.00034
|
NM_001114753.3(ENG):c.1447G>A (p.Val483Ile)
|
rs141330288
|
0.00034
|
NM_001145809.2(MYH14):c.2233-13C>A
|
rs368249273
|
0.00034
|
NM_001355436.2(SPTB):c.26A>C (p.Asn9Thr)
|
rs138437526
|
0.00034
|
NM_001457.4(FLNB):c.6515G>A (p.Arg2172His)
|
rs139846706
|
0.00034
|
NM_002769.5(PRSS1):c.121C>T (p.Leu41=)
|
rs369646357
|
0.00034
|
NM_003680.4(YARS1):c.1008G>A (p.Leu336=)
|
rs140232925
|
0.00034
|
NM_004984.4(KIF5A):c.471C>T (p.His157=)
|
rs143178113
|
0.00034
|
NM_005340.7(HINT1):c.111+6_111+7insC
|
rs770851222
|
0.00034
|
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)
|
rs142967546
|
0.00033
|
NM_000441.2(SLC26A4):c.1614+8C>T
|
rs370184422
|
0.00032
|
NM_001457.4(FLNB):c.4061+4G>A
|
rs370061963
|
0.00032
|
NM_003126.4(SPTA1):c.1688G>A (p.Arg563Gln)
|
rs202243588
|
0.00032
|
NM_005422.4(TECTA):c.5836T>C (p.Tyr1946His)
|
rs144343770
|
0.00032
|
NM_016247.4(IMPG2):c.1223C>T (p.Thr408Met)
|
rs148056371
|
0.00032
|
NM_000342.4(SLC4A1):c.486-18C>T
|
rs201023917
|
0.00031
|
NM_000350.3(ABCA4):c.5461-10T>C
|
rs1800728
|
0.00031
|
NM_003482.4(KMT2D):c.12889T>C (p.Ser4297Pro)
|
rs370243498
|
0.00031
|
NM_004086.3(COCH):c.272G>A (p.Arg91Gln)
|
rs188283330
|
0.00031
|
NM_016204.4(GDF2):c.776A>G (p.Asn259Ser)
|
rs140271276
|
0.00031
|
NM_032119.4(ADGRV1):c.596G>T (p.Ser199Ile)
|
rs61745496
|
0.00031
|
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp)
|
rs145278250
|
0.00031
|
NM_001142864.4(PIEZO1):c.7471C>T (p.Arg2491Trp)
|
rs201746476
|
0.00030
|
NM_015340.4(LARS2):c.1622+8G>A
|
rs202009605
|
0.00030
|
NM_153676.4(USH1C):c.1858C>T (p.Arg620Cys)
|
rs143160805
|
0.00030
|
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu)
|
rs141204958
|
0.00029
|
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His)
|
rs201489714
|
0.00029
|
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=)
|
rs116392938
|
0.00029
|
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys)
|
rs375289386
|
0.00029
|
NM_001134363.3(RBM20):c.567G>T (p.Gln189His)
|
rs377623370
|
0.00029
|
NM_001142864.4(PIEZO1):c.5647C>T (p.Arg1883Trp)
|
rs200031013
|
0.00029
|
NM_002474.3(MYH11):c.1502G>A (p.Arg501His)
|
rs144244239
|
0.00029
|
NM_006005.3(WFS1):c.1024G>A (p.Ala342Thr)
|
rs148028521
|
0.00029
|
NM_000435.3(NOTCH3):c.3523C>T (p.Arg1175Trp)
|
rs200504060
|
0.00028
|
NM_001128228.3(TPRN):c.1094A>G (p.Gln365Arg)
|
rs780953179
|
0.00028
|
NM_005529.7(HSPG2):c.8961C>T (p.Gly2987=)
|
rs369899077
|
0.00028
|
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln)
|
rs71539657
|
0.00028
|
NM_001105206.3(LAMA4):c.1158G>A (p.Glu386=)
|
rs147894075
|
0.00027
|
NM_001145809.2(MYH14):c.820A>G (p.Ile274Val)
|
rs200424400
|
0.00027
|
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)
|
rs200513014
|
0.00026
|
NM_003126.4(SPTA1):c.4240C>T (p.Arg1414Cys)
|
rs201399968
|
0.00026
|
NM_030777.4(SLC2A10):c.931G>A (p.Val311Ile)
|
rs139932041
|
0.00026
|
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)
|
rs201738967
|
0.00025
|
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg)
|
rs201148126
|
0.00025
|
NM_001142864.4(PIEZO1):c.5627G>A (p.Arg1876Lys)
|
rs201967733
|
0.00025
|
NM_001355436.2(SPTB):c.982C>T (p.Arg328Cys)
|
rs143293179
|
0.00025
|
NM_001375808.2(LPIN2):c.2625G>A (p.Pro875=)
|
rs187572602
|
0.00025
|
NM_002878.4(RAD51D):c.413A>G (p.Asn138Ser)
|
rs201676898
|
0.00025
|
NM_032119.4(ADGRV1):c.7468G>A (p.Ala2490Thr)
|
rs143632883
|
0.00025
|
NM_000342.4(SLC4A1):c.337G>A (p.Val113Ile)
|
rs142757938
|
0.00024
|
NM_000518.5(HBB):c.316-45G>C
|
rs140033163
|
0.00024
|
NM_001142864.4(PIEZO1):c.6154G>A (p.Val2052Ile)
|
rs564395221
|
0.00024
|
NM_001145809.2(MYH14):c.3871G>T (p.Val1291Leu)
|
rs202242879
|
0.00024
|
NM_001844.5(COL2A1):c.1581+16G>A
|
rs182598943
|
0.00024
|
NM_001854.4(COL11A1):c.898-15T>C
|
rs200242905
|
0.00024
|
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala)
|
rs189270875
|
0.00024
|
NM_005422.4(TECTA):c.1461A>G (p.Gly487=)
|
rs202127508
|
0.00024
|
NM_007272.3(CTRC):c.703G>A (p.Val235Ile)
|
rs140993290
|
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_178335.3(CCDC50):c.1144G>A (p.Ala382Thr)
|
rs143628723
|
0.00024
|
NM_000342.4(SLC4A1):c.798T>C (p.Phe266=)
|
rs193011645
|
0.00023
|
NM_000459.5(TEK):c.365-19G>A
|
rs371486685
|
0.00023
|
NM_021939.4(FKBP10):c.850G>A (p.Gly284Arg)
|
rs372214186
|
0.00023
|
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly)
|
rs144095826
|
0.00023
|
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_001498.4(GCLC):c.1091A>G (p.Asp364Gly)
|
rs151321990
|
0.00022
|
NM_032119.4(ADGRV1):c.12982G>A (p.Glu4328Lys)
|
rs182452385
|
0.00022
|
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr)
|
rs41298759
|
0.00021
|
NM_000518.5(HBB):c.315+70G>C
|
rs373152208
|
0.00021
|
NM_000557.5(GDF5):c.979C>G (p.Leu327Val)
|
rs181772082
|
0.00021
|
NM_001142864.4(PIEZO1):c.1051C>T (p.Arg351Trp)
|
rs959344565
|
0.00021
|
NM_001242896.3(DEPDC5):c.2672G>C (p.Ser891Thr)
|
rs185576553
|
0.00021
|
NM_001457.4(FLNB):c.3898+19G>A
|
rs780062399
|
0.00021
|
NM_005422.4(TECTA):c.3317G>A (p.Gly1106Asp)
|
rs144844263
|
0.00021
|
NM_006005.3(WFS1):c.1309G>A (p.Gly437Ser)
|
rs147974629
|
0.00021
|
NM_019844.4(SLCO1B3):c.484T>G (p.Cys162Gly)
|
rs140353351
|
0.00021
|
NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly)
|
rs111033396
|
0.00021
|
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln)
|
rs63750361
|
0.00020
|
NM_000435.3(NOTCH3):c.2437G>A (p.Glu813Lys)
|
rs375873637
|
0.00020
|
NM_001291303.3(FAT4):c.11380C>T (p.Arg3794Trp)
|
rs201859188
|
0.00020
|
NM_006939.4(SOS2):c.2712A>G (p.Glu904=)
|
rs143332839
|
0.00020
|
NM_007272.3(CTRC):c.674A>C (p.Glu225Ala)
|
rs201486613
|
0.00020
|
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg)
|
rs56399857
|
0.00019
|
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu)
|
rs146762316
|
0.00019
|
NM_000251.3(MSH2):c.481G>A (p.Val161Ile)
|
rs149511545
|
0.00019
|
NM_000435.3(NOTCH3):c.2738C>T (p.Pro913Leu)
|
rs370422650
|
0.00019
|
NM_001142864.4(PIEZO1):c.284-4G>A
|
rs543289166
|
0.00019
|
NM_001142864.4(PIEZO1):c.3778G>A (p.Val1260Ile)
|
rs776788949
|
0.00019
|
NM_001457.4(FLNB):c.2644G>C (p.Val882Leu)
|
rs139124254
|
0.00019
|
NM_001844.5(COL2A1):c.4289C>T (p.Thr1430Met)
|
rs147559634
|
0.00019
|
NM_002103.5(GYS1):c.207G>A (p.Thr69=)
|
rs540438011
|
0.00019
|
NM_003126.4(SPTA1):c.620T>C (p.Leu207Pro)
|
rs121918643
|
0.00019
|
NM_004304.5(ALK):c.487G>T (p.Val163Leu)
|
rs55697431
|
0.00019
|
NM_005529.7(HSPG2):c.8554G>A (p.Gly2852Arg)
|
rs199942544
|
0.00019
|
NM_006231.4(POLE):c.2781C>T (p.Asn927=)
|
rs775486303
|
0.00019
|
NM_014920.5(CILK1):c.555G>A (p.Ala185=)
|
rs138668959
|
0.00019
|
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe)
|
rs193030567
|
0.00019
|
NM_144687.4(NLRP12):c.1054C>T (p.Arg352Cys)
|
rs199881207
|
0.00019
|
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)
|
rs45553235
|
0.00018
|
NM_001384140.1(PCDH15):c.2424G>C (p.Lys808Asn)
|
rs375855445
|
0.00018
|
NM_001498.4(GCLC):c.264-11C>A
|
rs199775302
|
0.00018
|
NM_003126.4(SPTA1):c.5081G>A (p.Arg1694His)
|
rs201822255
|
0.00018
|
NM_005422.4(TECTA):c.3556C>T (p.Arg1186Trp)
|
rs148098950
|
0.00018
|
NM_005428.4(VAV1):c.1536C>T (p.Thr512=)
|
rs200254050
|
0.00018
|
NM_206933.4(USH2A):c.14413G>A (p.Val4805Ile)
|
rs147532612
|
0.00018
|
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe)
|
rs145254330
|
0.00017
|
NM_001375808.2(LPIN2):c.2328-13A>T
|
rs199830303
|
0.00017
|
NM_001844.5(COL2A1):c.2620C>T (p.Pro874Ser)
|
rs377198201
|
0.00017
|
NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg)
|
rs182698253
|
0.00017
|
NM_000251.3(MSH2):c.1275A>G (p.Glu425=)
|
rs63751650
|
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_001034850.3(RETREG1):c.86C>T (p.Pro29Leu)
|
rs528532732
|
0.00016
|
NM_001142864.4(PIEZO1):c.1447G>C (p.Val483Leu)
|
rs747301309
|
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_001142864.4(PIEZO1):c.7204G>C (p.Glu2402Gln)
|
rs773860217
|
0.00016
|
NM_006231.4(POLE):c.6597C>T (p.Ile2199=)
|
rs147611144
|
0.00016
|
NM_020320.5(RARS2):c.472_474del (p.Lys158del)
|
rs757743894
|
0.00016
|
NM_032119.4(ADGRV1):c.18754G>A (p.Asp6252Asn)
|
rs201800819
|
0.00016
|
NM_080916.3(DGUOK):c.366G>C (p.Gln122His)
|
rs199645258
|
0.00016
|
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr)
|
rs528342000
|
0.00016
|
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_001457.4(FLNB):c.2095C>T (p.Arg699Trp)
|
rs200554477
|
0.00015
|
NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val)
|
rs201393026
|
0.00015
|
NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr)
|
rs142898216
|
0.00015
|
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)
|
rs398123084
|
0.00014
|
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)
|
rs200788251
|
0.00014
|
NM_000142.5(FGFR3):c.930+10C>T
|
rs534857289
|
0.00014
|
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu)
|
rs61748083
|
0.00014
|
NM_000435.3(NOTCH3):c.6611C>T (p.Pro2204Leu)
|
rs371738874
|
0.00014
|
NM_001114753.3(ENG):c.694C>T (p.Arg232Trp)
|
rs200372420
|
0.00014
|
NM_001142864.4(PIEZO1):c.5656G>A (p.Ala1886Thr)
|
rs757753448
|
0.00014
|
NM_001142864.4(PIEZO1):c.950G>C (p.Gly317Ala)
|
rs868678918
|
0.00014
|
NM_001145809.2(MYH14):c.526G>A (p.Ala176Thr)
|
rs138001307
|
0.00014
|
NM_001844.5(COL2A1):c.246C>T (p.Phe82=)
|
rs142161948
|
0.00014
|
NM_003126.4(SPTA1):c.749G>A (p.Arg250His)
|
rs759192785
|
0.00014
|
NM_003978.5(PSTPIP1):c.555C>T (p.Thr185=)
|
rs370782742
|
0.00014
|
NM_006767.4(LZTR1):c.2407-18G>A
|
rs542841506
|
0.00014
|
NM_033100.4(CDHR1):c.1751C>T (p.Thr584Met)
|
rs754321329
|
0.00014
|
NM_000069.3(CACNA1S):c.4954C>T (p.Arg1652Cys)
|
rs143933255
|
0.00013
|
NM_000435.3(NOTCH3):c.6061G>A (p.Val2021Met)
|
rs199620476
|
0.00013
|
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu)
|
rs374704824
|
0.00013
|
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His)
|
rs768360593
|
0.00013
|
NM_001142864.4(PIEZO1):c.4496-13C>T
|
rs543403418
|
0.00013
|
NM_001291303.3(FAT4):c.1099G>A (p.Val367Ile)
|
rs747531733
|
0.00013
|
NM_001355436.2(SPTB):c.5943C>T (p.Arg1981=)
|
rs75000411
|
0.00013
|
NM_003036.4(SKI):c.640A>G (p.Ser214Gly)
|
rs139179843
|
0.00013
|
NM_016239.4(MYO15A):c.10054G>A (p.Ala3352Thr)
|
rs367863299
|
0.00013
|
NM_022367.4(SEMA4A):c.1694-13C>G
|
rs144540956
|
0.00013
|
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe)
|
rs111033330
|
0.00013
|
NM_000883.4(IMPDH1):c.377T>C (p.Phe126Ser)
|
rs367549284
|
0.00012
|
NM_001142864.4(PIEZO1):c.7099G>A (p.Glu2367Lys)
|
rs552562531
|
0.00012
|
NM_001159773.2(CANT1):c.632-15A>C
|
rs186671535
|
0.00012
|
NM_001457.4(FLNB):c.1640C>T (p.Ala547Val)
|
rs200619215
|
0.00012
|
NM_003978.5(PSTPIP1):c.1054G>A (p.Glu352Lys)
|
rs201186216
|
0.00012
|
NM_005529.7(HSPG2):c.12884G>A (p.Arg4295Gln)
|
rs537908254
|
0.00012
|
NM_000179.3(MSH6):c.628-7C>A
|
rs373129248
|
0.00011
|
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser)
|
rs151129360
|
0.00011
|
NM_000352.6(ABCC8):c.102G>A (p.Val34=)
|
rs189746511
|
0.00011
|
NM_001134363.3(RBM20):c.1922G>A (p.Arg641Gln)
|
rs143785916
|
0.00011
|
NM_001355436.2(SPTB):c.4511C>T (p.Ala1504Val)
|
rs200876438
|
0.00011
|
NM_001360.3(DHCR7):c.765C>T (p.Phe255=)
|
rs200132007
|
0.00011
|
NM_003052.5(SLC34A1):c.1223T>A (p.Val408Glu)
|
rs140649226
|
0.00011
|
NM_005529.7(HSPG2):c.6927C>T (p.Tyr2309=)
|
rs552716935
|
0.00011
|
NM_006231.4(POLE):c.285+13C>A
|
rs76960367
|
0.00011
|
NM_080680.3(COL11A2):c.1208C>T (p.Pro403Leu)
|
rs201179101
|
0.00011
|
NM_000051.4(ATM):c.6382T>C (p.Leu2128=)
|
rs753646931
|
0.00010
|
NM_000335.5(SCN5A):c.4299T>C (p.Tyr1433=)
|
rs200556220
|
0.00010
|
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys)
|
rs201118034
|
0.00010
|
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val)
|
rs111033423
|
0.00010
|
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr)
|
rs114090343
|
0.00010
|
NM_001142864.4(PIEZO1):c.2759G>A (p.Arg920Gln)
|
rs752372837
|
0.00010
|
NM_001142864.4(PIEZO1):c.6705C>T (p.Phe2235=)
|
rs747798306
|
0.00010
|
NM_001355436.2(SPTB):c.1773C>G (p.Thr591=)
|
rs565667858
|
0.00010
|
NM_001498.4(GCLC):c.984A>T (p.Arg328=)
|
rs181411098
|
0.00010
|
NM_004984.4(KIF5A):c.1932G>A (p.Thr644=)
|
rs370644634
|
0.00010
|
NM_005529.7(HSPG2):c.4758C>T (p.Ala1586=)
|
rs374708543
|
0.00010
|
NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp)
|
rs146579504
|
0.00010
|
NM_194248.3(OTOF):c.1732G>C (p.Val578Leu)
|
rs144907002
|
0.00010
|
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr)
|
rs138834083
|
0.00009
|
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)
|
rs147453999
|
0.00009
|
NM_000302.4(PLOD1):c.1203-3C>T
|
rs376288573
|
0.00009
|
NM_000717.5(CA4):c.415A>T (p.Met139Leu)
|
rs185658468
|
0.00009
|
NM_001142864.4(PIEZO1):c.5790C>G (p.Phe1930Leu)
|
rs750027720
|
0.00009
|
NM_001355436.2(SPTB):c.3425G>A (p.Arg1142Gln)
|
rs141173028
|
0.00009
|
NM_003482.4(KMT2D):c.793C>T (p.Arg265Cys)
|
rs766543419
|
0.00009
|
NM_006005.3(WFS1):c.173C>T (p.Ala58Val)
|
rs369671890
|
0.00009
|
NM_006005.3(WFS1):c.511G>A (p.Asp171Asn)
|
rs758281375
|
0.00009
|
NM_006939.4(SOS2):c.2600A>G (p.Asn867Ser)
|
rs561495878
|
0.00009
|
NM_007272.3(CTRC):c.533A>G (p.Gln178Arg)
|
rs200678111
|
0.00009
|
NM_007272.3(CTRC):c.550G>A (p.Ala184Thr)
|
rs761546594
|
0.00009
|
NM_017433.5(MYO3A):c.315del (p.Gly106fs)
|
rs777580042
|
0.00009
|
NM_130837.3(OPA1):c.2099A>G (p.Asn700Ser)
|
rs142694017
|
0.00009
|
NM_000152.5(GAA):c.1194+3G>C
|
rs368539333
|
0.00008
|
NM_000152.5(GAA):c.1552-3C>G
|
rs375470378
|
0.00008
|
NM_000179.3(MSH6):c.2281A>G (p.Arg761Gly)
|
rs199876321
|
0.00008
|
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr)
|
rs63750466
|
0.00008
|
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp)
|
rs199739859
|
0.00008
|
NM_002234.4(KCNA5):c.544G>A (p.Gly182Arg)
|
rs755408841
|
0.00008
|
NM_003036.4(SKI):c.1109T>C (p.Val370Ala)
|
rs138088528
|
0.00008
|
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)
|
rs111033524
|
0.00008
|
NM_000179.3(MSH6):c.2314C>A (p.Arg772=)
|
rs63750138
|
0.00007
|
NM_000249.4(MLH1):c.42A>C (p.Thr14=)
|
rs369737664
|
0.00007
|
NM_000260.4(MYO7A):c.2308G>A (p.Ala770Thr)
|
rs375253473
|
0.00007
|
NM_000435.3(NOTCH3):c.4728G>C (p.Glu1576Asp)
|
rs557113034
|
0.00007
|
NM_000518.5(HBB):c.389C>T (p.Ala130Val)
|
rs111645889
|
0.00007
|
NM_001142864.4(PIEZO1):c.7381G>A (p.Glu2461Lys)
|
rs371391349
|
0.00007
|
NM_001457.4(FLNB):c.1873G>A (p.Glu625Lys)
|
rs372998485
|
0.00007
|
NM_001457.4(FLNB):c.6221A>G (p.Lys2074Arg)
|
rs148043654
|
0.00007
|
NM_005422.4(TECTA):c.4481T>C (p.Val1494Ala)
|
rs200544452
|
0.00007
|
NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu)
|
rs28937890
|
0.00007
|
NM_007215.4(POLG2):c.328C>G (p.Leu110Val)
|
rs782703026
|
0.00007
|
NM_031206.7(LAS1L):c.1341A>G (p.Ala447=)
|
rs766767923
|
0.00007
|
NM_153676.4(USH1C):c.2004C>A (p.Pro668=)
|
rs201586291
|
0.00007
|
NM_000018.4(ACADVL):c.1434G>A (p.Met478Ile)
|
rs775537775
|
0.00006
|
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln)
|
rs147366714
|
0.00006
|
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met)
|
rs200290721
|
0.00006
|
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met)
|
rs776280797
|
0.00006
|
NM_000162.5(GCK):c.600G>A (p.Val200=)
|
rs773561406
|
0.00006
|
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg)
|
rs63750527
|
0.00006
|
NM_000251.3(MSH2):c.1321A>C (p.Thr441Pro)
|
rs587779086
|
0.00006
|
NM_000251.3(MSH2):c.382C>G (p.Leu128Val)
|
rs145649774
|
0.00006
|
NM_000289.6(PFKM):c.237+1G>A
|
rs202143236
|
0.00006
|
NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His)
|
rs199473592
|
0.00006
|
NM_000350.3(ABCA4):c.2646C>T (p.Gly882=)
|
rs180921875
|
0.00006
|
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met)
|
rs62642575
|
0.00006
|
NM_001114753.3(ENG):c.1852+42C>T
|
rs779974705
|
0.00006
|
NM_001134363.3(RBM20):c.3574-7T>G
|
rs397516616
|
0.00006
|
NM_001375808.2(LPIN2):c.1888G>A (p.Gly630Ser)
|
rs148607670
|
0.00006
|
NM_001375808.2(LPIN2):c.608C>T (p.Ser203Phe)
|
rs144555528
|
0.00006
|
NM_001498.4(GCLC):c.1486G>T (p.Ala496Ser)
|
rs147154581
|
0.00006
|
NM_002769.5(PRSS1):c.508A>G (p.Lys170Glu)
|
rs201550522
|
0.00006
|
NM_003978.5(PSTPIP1):c.1146G>A (p.Ala382=)
|
rs760234757
|
0.00006
|
NM_005422.4(TECTA):c.1621G>A (p.Val541Met)
|
rs370652301
|
0.00006
|
NM_005529.7(HSPG2):c.4928C>A (p.Pro1643His)
|
rs775389963
|
0.00006
|
NM_005529.7(HSPG2):c.769C>T (p.Arg257Trp)
|
rs535956121
|
0.00006
|
NM_006005.3(WFS1):c.1724C>G (p.Ala575Gly)
|
rs71524360
|
0.00006
|
NM_006231.4(POLE):c.5553-12C>G
|
rs766922669
|
0.00006
|
NM_032119.4(ADGRV1):c.1684G>T (p.Ala562Ser)
|
rs199636312
|
0.00006
|
NM_000018.4(ACADVL):c.760G>A (p.Gly254Ser)
|
rs765423779
|
0.00005
|
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=)
|
rs398123136
|
0.00005
|
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile)
|
rs541208827
|
0.00005
|
NM_000251.3(MSH2):c.1774A>G (p.Met592Val)
|
rs371614039
|
0.00005
|
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val)
|
rs111033242
|
0.00005
|
NM_001029883.3(PCARE):c.2890G>A (p.Gly964Ser)
|
rs371925633
|
0.00005
|
NM_001114753.3(ENG):c.689+17G>A
|
rs773103359
|
0.00005
|
NM_001457.4(FLNB):c.2096G>A (p.Arg699Gln)
|
rs752842243
|
0.00005
|
NM_001457.4(FLNB):c.2965G>A (p.Val989Met)
|
rs76471260
|
0.00005
|
NM_002296.4(LBR):c.1324T>C (p.Leu442=)
|
rs61749338
|
0.00005
|
NM_003036.4(SKI):c.994A>G (p.Ile332Val)
|
rs374264201
|
0.00005
|
NM_005529.7(HSPG2):c.5075G>T (p.Gly1692Val)
|
rs777795072
|
0.00005
|
NM_006579.3(EBP):c.445A>G (p.Ile149Val)
|
rs782032266
|
0.00005
|
NM_014014.5(SNRNP200):c.4721T>C (p.Ile1574Thr)
|
rs199736893
|
0.00005
|
NM_194248.3(OTOF):c.2567A>T (p.Asn856Ile)
|
rs752804141
|
0.00005
|
NM_000016.6(ACADM):c.1189T>A (p.Tyr397Asn)
|
rs759158371
|
0.00004
|
NM_000016.6(ACADM):c.388-3T>G
|
rs764942250
|
0.00004
|
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)
|
rs745832866
|
0.00004
|
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp)
|
rs771025937
|
0.00004
|
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser)
|
rs199524907
|
0.00004
|
NM_000053.4(ATP7B):c.1172C>T (p.Ser391Leu)
|
rs750724856
|
0.00004
|
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser)
|
rs587783318
|
0.00004
|
NM_000142.5(FGFR3):c.985G>A (p.Val329Ile)
|
rs188723332
|
0.00004
|
NM_000298.6(PKLR):c.1075C>T (p.Arg359Cys)
|
rs138871700
|
0.00004
|
NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His)
|
rs199473283
|
0.00004
|
NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln)
|
rs121912757
|
0.00004
|
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys)
|
rs769773673
|
0.00004
|
NM_001134407.3(GRIN2A):c.3884T>C (p.Ile1295Thr)
|
rs757351084
|
0.00004
|
NM_001142864.4(PIEZO1):c.1646C>T (p.Thr549Met)
|
rs775326454
|
0.00004
|
NM_001142864.4(PIEZO1):c.765C>T (p.Phe255=)
|
rs767600698
|
0.00004
|
NM_001457.4(FLNB):c.1135A>G (p.Ile379Val)
|
rs374118649
|
0.00004
|
NM_002296.4(LBR):c.851C>T (p.Thr284Met)
|
rs371750924
|
0.00004
|
NM_003978.5(PSTPIP1):c.687C>T (p.Asn229=)
|
rs542286074
|
0.00004
|
NM_004984.4(KIF5A):c.341G>A (p.Arg114Gln)
|
rs144277716
|
0.00004
|
NM_006182.4(DDR2):c.444T>C (p.Tyr148=)
|
rs774706415
|
0.00004
|
NM_007272.3(CTRC):c.493+3G>A
|
rs772436044
|
0.00004
|
NM_016204.4(GDF2):c.716C>T (p.Thr239Met)
|
rs782560993
|
0.00004
|
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg)
|
rs121909283
|
0.00004
|
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr)
|
rs374545987
|
0.00004
|
NM_080680.3(COL11A2):c.3974C>T (p.Ser1325Leu)
|
rs543145528
|
0.00004
|
NM_080680.3(COL11A2):c.544G>A (p.Val182Ile)
|
rs375937729
|
0.00004
|
NM_194248.3(OTOF):c.3637G>A (p.Gly1213Ser)
|
rs140023414
|
0.00004
|
NM_000016.6(ACADM):c.558T>A (p.Asn186Lys)
|
rs754359356
|
0.00003
|
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met)
|
rs113994169
|
0.00003
|
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met)
|
rs750019452
|
0.00003
|
NM_000249.4(MLH1):c.91G>T (p.Ala31Ser)
|
rs749671520
|
0.00003
|
NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser)
|
rs397516302
|
0.00003
|
NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val)
|
rs111033511
|
0.00003
|
NM_000518.5(HBB):c.316-12T>C
|
rs781604042
|
0.00003
|
NM_000518.5(HBB):c.316-7C>A
|
rs34483965
|
0.00003
|
NM_000535.7(PMS2):c.2521del (p.Trp841fs)
|
rs886039646
|
0.00003
|
NM_000540.3(RYR1):c.1589G>A (p.Arg530His)
|
rs111888148
|
0.00003
|
NM_001134363.3(RBM20):c.3169C>T (p.Arg1057Trp)
|
rs199830512
|
0.00003
|
NM_001142864.4(PIEZO1):c.1207C>T (p.Arg403Trp)
|
rs536446748
|
0.00003
|
NM_001142864.4(PIEZO1):c.6471+9G>A
|
rs761913079
|
0.00003
|
NM_001235.5(SERPINH1):c.565A>G (p.Thr189Ala)
|
rs138784081
|
0.00003
|
NM_001457.4(FLNB):c.2005A>G (p.Thr669Ala)
|
rs147481678
|
0.00003
|
NM_001851.6(COL9A1):c.876+1G>C
|
rs202232444
|
0.00003
|
NM_002246.3(KCNK3):c.1097C>T (p.Ala366Val)
|
rs773773071
|
0.00003
|
NM_002529.4(NTRK1):c.219C>T (p.Ile73=)
|
rs563296138
|
0.00003
|
NM_003036.4(SKI):c.1272G>A (p.Pro424=)
|
rs552946737
|
0.00003
|
NM_003126.4(SPTA1):c.5915C>A (p.Thr1972Asn)
|
rs201463616
|
0.00003
|
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu)
|
rs397516878
|
0.00003
|
NM_005458.8(GABBR2):c.664G>A (p.Glu222Lys)
|
rs750467268
|
0.00003
|
NM_005529.7(HSPG2):c.2520C>T (p.Asp840=)
|
rs544565016
|
0.00003
|
NM_007272.3(CTRC):c.181G>A (p.Gly61Arg)
|
rs769482036
|
0.00003
|
NM_007272.3(CTRC):c.356+7G>C
|
rs773334021
|
0.00003
|
NM_007272.3(CTRC):c.649G>A (p.Gly217Ser)
|
rs202058123
|
0.00003
|
NM_032119.4(ADGRV1):c.1094A>G (p.Asp365Gly)
|
rs779719772
|
0.00003
|
NM_080680.3(COL11A2):c.3173C>T (p.Pro1058Leu)
|
rs562253142
|
0.00003
|
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala)
|
rs372081834
|
0.00003
|
NM_000016.6(ACADM):c.158G>A (p.Arg53His)
|
rs754938068
|
0.00002
|
NM_000016.6(ACADM):c.238A>G (p.Arg80Gly)
|
rs758476299
|
0.00002
|
NM_000016.6(ACADM):c.580A>G (p.Asn194Asp)
|
rs773677327
|
0.00002
|
NM_000016.6(ACADM):c.757G>A (p.Glu253Lys)
|
rs768884003
|
0.00002
|
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val)
|
rs1555291801
|
0.00002
|
NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro)
|
rs568009639
|
0.00002
|
NM_000179.3(MSH6):c.2664G>C (p.Lys888Asn)
|
rs730881798
|
0.00002
|
NM_000179.3(MSH6):c.2950A>C (p.Asn984His)
|
rs146359682
|
0.00002
|
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)
|
rs63750617
|
0.00002
|
NM_000249.4(MLH1):c.303T>G (p.Gly101=)
|
rs4647220
|
0.00002
|
NM_000251.3(MSH2):c.1182T>G (p.Phe394Leu)
|
rs374135434
|
0.00002
|
NM_000251.3(MSH2):c.1937A>C (p.Asp646Ala)
|
rs41295290
|
0.00002
|
NM_000251.3(MSH2):c.2786G>A (p.Arg929Gln)
|
rs587779967
|
0.00002
|
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val)
|
rs199473266
|
0.00002
|
NM_001291415.2(KDM6A):c.4255G>A (p.Gly1419Arg)
|
rs370298215
|
0.00002
|
NM_001457.4(FLNB):c.1628T>C (p.Val543Ala)
|
rs773177128
|
0.00002
|
NM_001457.4(FLNB):c.1897A>G (p.Met633Val)
|
rs937051879
|
0.00002
|
NM_001844.5(COL2A1):c.157C>G (p.Arg53Gly)
|
rs776744207
|
0.00002
|
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu)
|
rs370228071
|
0.00002
|
NM_003126.4(SPTA1):c.1124T>C (p.Phe375Ser)
|
rs929328527
|
0.00002
|
NM_003126.4(SPTA1):c.209T>G (p.Met70Arg)
|
rs1469938477
|
0.00002
|
NM_003482.4(KMT2D):c.4865G>C (p.Gly1622Ala)
|
rs377457393
|
0.00002
|
NM_005802.5(TOPORS):c.1365G>A (p.Thr455=)
|
rs780866628
|
0.00002
|
NM_006231.4(POLE):c.4872G>A (p.Trp1624Ter)
|
rs754982151
|
0.00002
|
NM_006939.4(SOS2):c.3547C>T (p.Pro1183Ser)
|
rs139401491
|
0.00002
|
NM_080680.3(COL11A2):c.5170C>T (p.Arg1724Trp)
|
rs762351406
|
0.00002
|
NM_000016.6(ACADM):c.1052C>T (p.Thr351Ile)
|
rs766140986
|
0.00001
|
NM_000016.6(ACADM):c.1115C>A (p.Ala372Asp)
|
rs781424858
|
0.00001
|
NM_000016.6(ACADM):c.447G>T (p.Met149Ile)
|
rs121434277
|
0.00001
|
NM_000016.6(ACADM):c.503A>C (p.Asp168Ala)
|
rs745844469
|
0.00001
|
NM_000016.6(ACADM):c.599+1G>A
|
rs866388216
|
0.00001
|
NM_000016.6(ACADM):c.599+5G>A
|
rs875989861
|
0.00001
|
NM_000016.6(ACADM):c.728G>A (p.Arg243Gln)
|
rs373852490
|
0.00001
|
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg)
|
rs398123079
|
0.00001
|
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser)
|
rs758928307
|
0.00001
|
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu)
|
rs200366828
|
0.00001
|
NM_000018.4(ACADVL):c.1540G>A (p.Gly514Arg)
|
rs370282954
|
0.00001
|
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)
|
rs727503791
|
0.00001
|
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly)
|
rs749159573
|
0.00001
|
NM_000053.4(ATP7B):c.2029G>A (p.Glu677Lys)
|
rs2277447
|
0.00001
|
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=)
|
rs751202110
|
0.00001
|
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met)
|
rs121907997
|
0.00001
|
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe)
|
rs751710854
|
0.00001
|
NM_000053.4(ATP7B):c.3295G>A (p.Gly1099Ser)
|
rs761632029
|
0.00001
|
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser)
|
rs778886174
|
0.00001
|
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val)
|
rs775373641
|
0.00001
|
NM_000155.4(GALT):c.241G>C (p.Ala81Pro)
|
rs111033665
|
0.00001
|
NM_000155.4(GALT):c.961C>T (p.His321Tyr)
|
rs367543266
|
0.00001
|
NM_000179.3(MSH6):c.1061G>T (p.Gly354Val)
|
rs730881788
|
0.00001
|
NM_000179.3(MSH6):c.3233T>C (p.Val1078Ala)
|
rs376452612
|
0.00001
|
NM_000179.3(MSH6):c.3339T>G (p.Ile1113Met)
|
rs786202044
|
0.00001
|
NM_000179.3(MSH6):c.628-2A>G
|
rs1114167725
|
0.00001
|
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala)
|
rs63749909
|
0.00001
|
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)
|
rs587778998
|
0.00001
|
NM_000249.4(MLH1):c.650G>A (p.Arg217His)
|
rs762099920
|
0.00001
|
NM_000251.3(MSH2):c.1640A>G (p.Asn547Ser)
|
rs267607967
|
0.00001
|
NM_000251.3(MSH2):c.1796T>C (p.Leu599Ser)
|
rs747504492
|
0.00001
|
NM_000251.3(MSH2):c.362A>G (p.Tyr121Cys)
|
rs587779971
|
0.00001
|
NM_000251.3(MSH2):c.440T>G (p.Val147Gly)
|
rs760851623
|
0.00001
|
NM_000251.3(MSH2):c.962C>G (p.Thr321Ser)
|
rs1233448699
|
0.00001
|
NM_000255.4(MMUT):c.1276G>A (p.Gly426Arg)
|
rs769922244
|
0.00001
|
NM_000289.6(PFKM):c.888G>A (p.Leu296=)
|
rs753083173
|
0.00001
|
NM_000297.4(PKD2):c.2295T>C (p.Asp765=)
|
rs138982773
|
0.00001
|
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp)
|
rs137854602
|
0.00001
|
NM_000342.4(SLC4A1):c.2055C>T (p.Thr685=)
|
rs375136281
|
0.00001
|
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg)
|
rs61751412
|
0.00001
|
NM_000435.3(NOTCH3):c.2209G>A (p.Ala737Thr)
|
rs754815179
|
0.00001
|
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys)
|
rs1167405466
|
0.00001
|
NM_000435.3(NOTCH3):c.3356G>A (p.Cys1119Tyr)
|
rs1266914122
|
0.00001
|
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys)
|
rs775267348
|
0.00001
|
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val)
|
rs766656419
|
0.00001
|
NM_000478.6(ALPL):c.299C>T (p.Thr100Met)
|
rs1201942473
|
0.00001
|
NM_000518.5(HBB):c.274C>T (p.Leu92=)
|
rs769583496
|
0.00001
|
NM_000535.7(PMS2):c.1144+1G>A
|
rs373885654
|
0.00001
|
NM_000541.5(SAG):c.511A>G (p.Lys171Glu)
|
rs552862207
|
0.00001
|
NM_001005242.3(PKP2):c.1379-2A>T
|
rs1453983744
|
0.00001
|
NM_001114753.3(ENG):c.1585C>T (p.Arg529Cys)
|
rs745316066
|
0.00001
|
NM_001114753.3(ENG):c.633C>T (p.Gly211=)
|
rs928192105
|
0.00001
|
NM_001114753.3(ENG):c.943G>A (p.Val315Met)
|
rs763508329
|
0.00001
|
NM_001142864.4(PIEZO1):c.3740T>G (p.Phe1247Cys)
|
rs907173644
|
0.00001
|
NM_001142864.4(PIEZO1):c.5619T>C (p.Phe1873=)
|
rs1433038327
|
0.00001
|
NM_001142864.4(PIEZO1):c.645C>G (p.His215Gln)
|
rs559847737
|
0.00001
|
NM_001142864.4(PIEZO1):c.7130-5C>A
|
rs1357808025
|
0.00001
|
NM_001278116.2(L1CAM):c.726G>T (p.Leu242=)
|
rs200813995
|
0.00001
|
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr)
|
rs397507175
|
0.00001
|
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)
|
rs397514382
|
0.00001
|
NM_001457.4(FLNB):c.1808C>T (p.Ser603Leu)
|
rs764538938
|
0.00001
|
NM_001457.4(FLNB):c.2356C>T (p.Arg786Trp)
|
rs201452322
|
0.00001
|
NM_001457.4(FLNB):c.4774G>A (p.Val1592Ile)
|
rs754360853
|
0.00001
|
NM_001457.4(FLNB):c.6211G>A (p.Val2071Ile)
|
rs201831615
|
0.00001
|
NM_001498.4(GCLC):c.1632C>T (p.Asn544=)
|
rs913611013
|
0.00001
|
NM_001754.5(RUNX1):c.1396A>T (p.Met466Leu)
|
rs762213305
|
0.00001
|
NM_001844.5(COL2A1):c.1505C>T (p.Pro502Leu)
|
rs904660062
|
0.00001
|
NM_003126.4(SPTA1):c.6631C>T (p.Arg2211Cys)
|
rs773800556
|
0.00001
|
NM_003482.4(KMT2D):c.10410G>T (p.Leu3470=)
|
rs747438612
|
0.00001
|
NM_003482.4(KMT2D):c.7998C>A (p.Asp2666Glu)
|
rs1258008817
|
0.00001
|
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro)
|
rs111033361
|
0.00001
|
NM_004004.6(GJB2):c.279G>A (p.Met93Ile)
|
rs397516871
|
0.00001
|
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)
|
rs111033295
|
0.00001
|
NM_004211.5(SLC6A5):c.1640T>C (p.Phe547Ser)
|
rs772652517
|
0.00001
|
NM_004444.5(EPHB4):c.2512C>T (p.Arg838Trp)
|
rs764827256
|
0.00001
|
NM_005340.7(HINT1):c.284G>A (p.Arg95Gln)
|
rs373197800
|
0.00001
|
NM_005529.7(HSPG2):c.8017C>T (p.Arg2673Ter)
|
rs745338204
|
0.00001
|
NM_005591.4(MRE11):c.1225+10T>G
|
rs863224734
|
0.00001
|
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp)
|
rs119482083
|
0.00001
|
NM_006892.4(DNMT3B):c.2348_2349del (p.Gln783fs)
|
rs1368779496
|
0.00001
|
NM_007272.3(CTRC):c.595A>T (p.Thr199Ser)
|
rs751977111
|
0.00001
|
NM_014249.4(NR2E3):c.1007T>C (p.Leu336Pro)
|
rs752883545
|
0.00001
|
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys)
|
rs193302867
|
0.00001
|
NM_020320.5(RARS2):c.1406G>A (p.Arg469His)
|
rs759331139
|
0.00001
|
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp)
|
rs374997012
|
0.00001
|
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys)
|
rs745571683
|
0.00001
|
NM_022787.4(NMNAT1):c.471A>G (p.Ala157=)
|
rs373788044
|
0.00001
|
NM_032119.4(ADGRV1):c.17276A>G (p.Asn5759Ser)
|
rs375445058
|
0.00001
|
NM_032119.4(ADGRV1):c.690A>C (p.Glu230Asp)
|
rs397517434
|
0.00001
|
NM_033056.4(PCDH15):c.5839C>T (p.Gln1947Ter)
|
rs1457208099
|
0.00001
|
NM_080680.3(COL11A2):c.5121G>T (p.Gln1707His)
|
rs138667578
|
0.00001
|
NM_153676.4(USH1C):c.307C>T (p.Arg103Cys)
|
rs397517880
|
0.00001
|
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg)
|
rs1064793287
|
0.00001
|
NM_000016.6(ACADM):c.346T>G (p.Cys116Gly)
|
rs875989863
|
|
NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del)
|
rs875989857
|
|
NM_000016.6(ACADM):c.526G>A (p.Ala176Thr)
|
rs200754053
|
|
NM_000016.6(ACADM):c.526G>T (p.Ala176Ser)
|
rs200754053
|
|
NM_000016.6(ACADM):c.683C>A (p.Thr228Asn)
|
rs149678400
|
|
NM_000016.6(ACADM):c.755T>G (p.Phe252Cys)
|
rs780510026
|
|
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del)
|
rs754325237
|
|
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg)
|
rs886043236
|
|
NM_000018.4(ACADVL):c.1384G>A (p.Glu462Lys)
|
rs2071355499
|
|
NM_000018.4(ACADVL):c.1434+14T>A
|
rs202217537
|
|
NM_000018.4(ACADVL):c.1613G>C (p.Arg538Pro)
|
rs201350598
|
|
NM_000018.4(ACADVL):c.1616C>A (p.Ala539Asp)
|
rs781613690
|
|
NM_000018.4(ACADVL):c.1678+3_1678+6del
|
rs759135941
|
|
NM_000018.4(ACADVL):c.1878G>A (p.Trp626Ter)
|
rs1555529186
|
|
NM_000018.4(ACADVL):c.1882del (p.Gln628fs)
|
rs1597541142
|
|
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del)
|
rs796051920
|
|
NM_000018.4(ACADVL):c.533T>C (p.Leu178Pro)
|
rs1131691808
|
|
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro)
|
rs768975918
|
|
NM_000018.4(ACADVL):c.623-1G>A
|
rs1597526782
|
|
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr)
|
rs140629318
|
|
NM_000018.4(ACADVL):c.829_831del (p.Glu277del)
|
rs796051913
|
|
NM_000018.4(ACADVL):c.889_891del (p.Glu297del)
|
rs796051914
|
|
NM_000020.3(ACVRL1):c.1132C>T (p.Pro378Ser)
|
rs959973779
|
|
NM_000020.3(ACVRL1):c.1346C>T (p.Pro449Leu)
|
rs2139084385
|
|
NM_000020.3(ACVRL1):c.706G>A (p.Glu236Lys)
|
rs1592223490
|
|
NM_000020.3(ACVRL1):c.979G>C (p.Ala327Pro)
|
rs1940810597
|
|
NM_000053.4(ATP7B):c.2120A>G (p.Gln707Arg)
|
|
|
NM_000053.4(ATP7B):c.2231C>T (p.Ser744Phe)
|
rs1958498953
|
|
NM_000053.4(ATP7B):c.2294A>G (p.Asp765Gly)
|
rs1555291147
|
|
NM_000053.4(ATP7B):c.2558A>G (p.Asp853Gly)
|
rs752634617
|
|
NM_000053.4(ATP7B):c.2570T>C (p.Ile857Thr)
|
rs1057520235
|
|
NM_000053.4(ATP7B):c.2662A>C (p.Thr888Pro)
|
rs1455758826
|
|
NM_000053.4(ATP7B):c.2681C>T (p.Thr894Ile)
|
rs1340729837
|
|
NM_000053.4(ATP7B):c.2866-2del
|
rs1593681941
|
|
NM_000053.4(ATP7B):c.2939G>A (p.Cys980Tyr)
|
rs1038582488
|
|
NM_000053.4(ATP7B):c.3203A>G (p.Glu1068Gly)
|
rs1555286478
|
|
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg)
|
rs786204483
|
|
NM_000092.5(COL4A4):c.594+1G>A
|
rs1553690565
|
|
NM_000095.3(COMP):c.1318G>C (p.Gly440Arg)
|
rs1601053997
|
|
NM_000141.5(FGFR2):c.2328C>T (p.Leu776=)
|
rs148478597
|
|
NM_000142.5(FGFR3):c.1657G>A (p.Val553Met)
|
rs199544087
|
|
NM_000142.5(FGFR3):c.912C>G (p.Pro304=)
|
rs201012537
|
|
NM_000152.5(GAA):c.1438-1G>T
|
rs147804176
|
|
NM_000152.5(GAA):c.1841C>T (p.Thr614Met)
|
rs369531647
|
|
NM_000155.4(GALT):c.1049C>A (p.Thr350Asn)
|
rs775317639
|
|
NM_000155.4(GALT):c.405G>A (p.Ser135=)
|
rs141232328
|
|
NM_000155.4(GALT):c.617A>G (p.Gln206Arg)
|
rs1587239309
|
|
NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser)
|
rs886043390
|
|
NM_000162.5(GCK):c.1020-10C>A
|
rs193922257
|
|
NM_000179.3(MSH6):c.1795G>C (p.Gly599Arg)
|
rs756043669
|
|
NM_000179.3(MSH6):c.2230dup (p.Glu744fs)
|
rs786201050
|
|
NM_000179.3(MSH6):c.3173-18T>A
|
rs189672273
|
|
NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe)
|
rs376799914
|
|
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His)
|
rs63750119
|
|
NM_000179.3(MSH6):c.3729ATT[1] (p.Leu1244del)
|
rs876658650
|
|
NM_000179.3(MSH6):c.4001+2TAAC[2]
|
rs267608132
|
|
NM_000249.4(MLH1):c.207+2T>C
|
rs267607722
|
|
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.160G>T (p.Ala54Ser)
|
rs749212640
|
|
NM_000251.3(MSH2):c.1748A>T (p.Asn583Ile)
|
rs201118107
|
|
NM_000251.3(MSH2):c.1760-7del
|
rs754968844
|
|
NM_000251.3(MSH2):c.646-11T>C
|
rs879254124
|
|
NM_000251.3(MSH2):c.698C>G (p.Ser233Cys)
|
rs587781724
|
|
NM_000251.3(MSH2):c.743A>G (p.Lys248Arg)
|
rs1064794704
|
|
NM_000251.3(MSH2):c.956A>G (p.Asp319Gly)
|
rs786204185
|
|
NM_000255.4(MMUT):c.1889G>C (p.Gly630Ala)
|
rs143023066
|
|
NM_000260.4(MYO7A):c.133-7C>T
|
rs111033221
|
|
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val)
|
rs797044512
|
|
NM_000289.6(PFKM):c.1063-6C>A
|
rs371033104
|
|
NM_000298.6(PKLR):c.1219G>A (p.Glu407Lys)
|
rs866472917
|
|
NM_000298.6(PKLR):c.1378G>A (p.Val460Met)
|
rs752034960
|
|
NM_000298.6(PKLR):c.1670G>C (p.Gly557Ala)
|
rs1674489086
|
|
NM_000298.6(PKLR):c.993C>A (p.Asp331Glu)
|
rs138476691
|
|
NM_000302.4(PLOD1):c.1903-14dup
|
rs748794198
|
|
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn)
|
rs142978362
|
|
NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp)
|
rs28933990
|
|
NM_000335.5(SCN5A):c.1126C>T (p.Arg376Cys)
|
rs199473100
|
|
NM_000335.5(SCN5A):c.844C>T (p.Arg282Cys)
|
rs199473082
|
|
NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp)
|
rs28931585
|
|
NM_000342.4(SLC4A1):c.1627-3C>T
|
|
|
NM_000342.4(SLC4A1):c.2057+1G>A
|
rs2047371081
|
|
NM_000342.4(SLC4A1):c.2278C>T (p.Arg760Trp)
|
rs373916826
|
|
NM_000342.4(SLC4A1):c.609+1G>A
|
rs1362663440
|
|
NM_000342.4(SLC4A1):c.733G>A (p.Val245Met)
|
rs148170067
|
|
NM_000350.3(ABCA4):c.2912C>A (p.Thr971Asn)
|
rs61749450
|
|
NM_000352.6(ABCC8):c.2695-20G>A
|
|
|
NM_000355.4(TCN2):c.581-8A>G
|
rs7290898
|
|
NM_000398.7(CYB5R3):c.334-15G>A
|
|
|
NM_000435.3(NOTCH3):c.1279C>T (p.Arg427Cys)
|
rs1599391536
|
|
NM_000435.3(NOTCH3):c.1364G>A (p.Cys455Tyr)
|
rs886041513
|
|
NM_000435.3(NOTCH3):c.1607-14T>C
|
|
|
NM_000435.3(NOTCH3):c.1816T>C (p.Cys606Arg)
|
rs1568359346
|
|
NM_000435.3(NOTCH3):c.194G>C (p.Cys65Ser)
|
rs1555730176
|
|
NM_000435.3(NOTCH3):c.239A>G (p.Asp80Gly)
|
rs1599395616
|
|
NM_000435.3(NOTCH3):c.245G>T (p.Cys82Phe)
|
rs1023306013
|
|
NM_000435.3(NOTCH3):c.3043T>C (p.Cys1015Arg)
|
rs1599382214
|
|
NM_000435.3(NOTCH3):c.3084G>C (p.Trp1028Cys)
|
rs2046832726
|
|
NM_000435.3(NOTCH3):c.436T>C (p.Cys146Arg)
|
rs1555729510
|
|
NM_000435.3(NOTCH3):c.719G>A (p.Cys240Tyr)
|
rs1599394351
|
|
NM_000441.2(SLC26A4):c.1670G>A (p.Gly557Asp)
|
rs939755872
|
|
NM_000441.2(SLC26A4):c.765+2T>C
|
rs397516432
|
|
NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys)
|
|
|
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln)
|
rs35350960
|
|
NM_000463.3(UGT1A1):c.686C>T (p.Pro229Leu)
|
rs35350960
|
|
NM_000463.3(UGT1A1):c.964A>G (p.Ile322Val)
|
rs200903749
|
|
NM_000478.6(ALPL):c.1010A>G (p.Asp337Gly)
|
rs1219494274
|
|
NM_000478.6(ALPL):c.1417G>A (p.Gly473Ser)
|
rs1644755212
|
|
NM_000478.6(ALPL):c.457T>C (p.Trp153Arg)
|
rs1644512630
|
|
NM_000478.6(ALPL):c.534C>T (p.Tyr178=)
|
rs201250289
|
|
NM_000478.6(ALPL):c.871G>A (p.Glu291Lys)
|
rs786204473
|
|
NM_000478.6(ALPL):c.978CTT[2] (p.Phe328del)
|
rs753338851
|
|
NM_000517.4(HBA2):c.427T>G (p.Ter143Glu)
|
rs41464951
|
|
NM_000518.4(HBB):c.-136C>G
|
rs33994806
|
|
NM_000518.5(HBB):c.33C>A (p.Ala11=)
|
rs35799536
|
|
NM_000518.5(HBB):c.380T>G (p.Val127Gly)
|
rs33925391
|
|
NM_000518.5(HBB):c.402G>C (p.Val134=)
|
rs113082294
|
|
NM_000531.6(OTC):c.903A>T (p.Leu301Phe)
|
rs72558462
|
|
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys)
|
rs1805322
|
|
NM_000539.3(RHO):c.1021G>A (p.Glu341Lys)
|
rs142322202
|
|
NM_000539.3(RHO):c.563G>A (p.Gly188Glu)
|
rs1424131846
|
|
NM_000540.3(RYR1):c.38T>G (p.Leu13Arg)
|
rs193922744
|
|
NM_000540.3(RYR1):c.7879G>A (p.Val2627Met)
|
rs914804033
|
|
NM_001005373.4(LRSAM1):c.72+10del
|
rs1554753226
|
|
NM_001114753.3(ENG):c.1087T>C (p.Cys363Arg)
|
rs2131885848
|
|
NM_001114753.3(ENG):c.1216C>G (p.Arg406Gly)
|
rs751787590
|
|
NM_001114753.3(ENG):c.1319T>G (p.Val440Gly)
|
rs1554809363
|
|
NM_001114753.3(ENG):c.1429-8C>G
|
rs376169815
|
|
NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly)
|
rs1830376644
|
|
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg)
|
rs1830302008
|
|
NM_001114753.3(ENG):c.360+5G>A
|
rs1060501417
|
|
NM_001114753.3(ENG):c.523G>T (p.Ala175Ser)
|
rs1588583488
|
|
NM_001114753.3(ENG):c.698CGGTGA[1] (p.233TV[1])
|
rs1588582060
|
|
NM_001127453.2(GSDME):c.1183+5G>A
|
rs777359423
|
|
NM_001142864.4(PIEZO1):c.1179C>G (p.Ser393=)
|
rs780119372
|
|
NM_001142864.4(PIEZO1):c.1187G>A (p.Arg396Gln)
|
|
|
NM_001142864.4(PIEZO1):c.1211C>T (p.Ala404Val)
|
|
|
NM_001142864.4(PIEZO1):c.1447G>A (p.Val483Met)
|
rs747301309
|
|
NM_001142864.4(PIEZO1):c.1792G>A (p.Val598Met)
|
rs2142820621
|
|
NM_001142864.4(PIEZO1):c.1917G>C (p.Leu639=)
|
|
|
NM_001142864.4(PIEZO1):c.2247GGA[9] (p.Glu756dup)
|
rs59446030
|
|
NM_001142864.4(PIEZO1):c.2248G>C (p.Glu750Gln)
|
|
|
NM_001142864.4(PIEZO1):c.2661C>T (p.Thr887=)
|
|
|
NM_001142864.4(PIEZO1):c.2731G>A (p.Val911Met)
|
rs554899632
|
|
NM_001142864.4(PIEZO1):c.2860C>A (p.Arg954=)
|
rs765257824
|
|
NM_001142864.4(PIEZO1):c.2860C>T (p.Arg954Trp)
|
rs765257824
|
|
NM_001142864.4(PIEZO1):c.2875G>A (p.Ala959Thr)
|
rs770222800
|
|
NM_001142864.4(PIEZO1):c.3433G>A (p.Val1145Met)
|
|
|
NM_001142864.4(PIEZO1):c.359G>A (p.Arg120Gln)
|
|
|
NM_001142864.4(PIEZO1):c.3626G>A (p.Arg1209Gln)
|
|
|
NM_001142864.4(PIEZO1):c.3699+20G>C
|
rs4424896
|
|
NM_001142864.4(PIEZO1):c.3699+20_3699+21delinsCG
|
rs1904465031
|
|
NM_001142864.4(PIEZO1):c.4316C>T (p.Ser1439Leu)
|
|
|
NM_001142864.4(PIEZO1):c.4956-17C>T
|
|
|
NM_001142864.4(PIEZO1):c.5139C>T (p.Leu1713=)
|
rs369279313
|
|
NM_001142864.4(PIEZO1):c.5340C>T (p.Asp1780=)
|
rs372159659
|
|
NM_001142864.4(PIEZO1):c.5389C>T (p.Arg1797Cys)
|
|
|
NM_001142864.4(PIEZO1):c.5515G>A (p.Glu1839Lys)
|
rs77170706
|
|
NM_001142864.4(PIEZO1):c.5636A>G (p.Glu1879Gly)
|
|
|
NM_001142864.4(PIEZO1):c.5743C>A (p.Arg1915Ser)
|
rs13338527
|
|
NM_001142864.4(PIEZO1):c.5778G>A (p.Arg1926=)
|
|
|
NM_001142864.4(PIEZO1):c.5846T>G (p.Ile1949Ser)
|
|
|
NM_001142864.4(PIEZO1):c.5991C>T (p.Asp1997=)
|
|
|
NM_001142864.4(PIEZO1):c.6494AGA[4] (p.Lys2169del)
|
rs763477215
|
|
NM_001142864.4(PIEZO1):c.6796G>A (p.Val2266Ile)
|
rs546338962
|
|
NM_001142864.4(PIEZO1):c.6886A>C (p.Thr2296Pro)
|
|
|
NM_001142864.4(PIEZO1):c.7007G>A (p.Arg2336Gln)
|
|
|
NM_001142864.4(PIEZO1):c.7472_7477dup (p.Arg2491_Glu2492dup)
|
rs755226463
|
|
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln)
|
rs144681140
|
|
NM_001289125.3(IFNAR2):c.157T>C (p.Ser53Pro)
|
rs1987287426
|
|
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_001363118.2(SLC52A2):c.353C>A (p.Ala118Asp)
|
rs117500243
|
|
NM_001370259.2(MEN1):c.430T>G (p.Phe144Val)
|
rs1114167543
|
|
NM_001375808.2(LPIN2):c.1169-7del
|
rs746626720
|
|
NM_001375808.2(LPIN2):c.1169-7dup
|
rs746626720
|
|
NM_001375808.2(LPIN2):c.2621G>T (p.Cys874Phe)
|
rs201160155
|
|
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His)
|
rs45483395
|
|
NM_001457.4(FLNB):c.107G>A (p.Arg36His)
|
rs142568031
|
|
NM_001457.4(FLNB):c.1327G>C (p.Val443Leu)
|
rs200902568
|
|
NM_001457.4(FLNB):c.4515-24GT[4]
|
rs151085835
|
|
NM_001844.5(COL2A1):c.1052G>T (p.Gly351Val)
|
rs1939615464
|
|
NM_001844.5(COL2A1):c.1331G>T (p.Gly444Val)
|
rs1939463507
|
|
NM_001844.5(COL2A1):c.1453G>A (p.Ala485Thr)
|
rs556023617
|
|
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu)
|
rs186233557
|
|
NM_001844.5(COL2A1):c.3827G>A (p.Arg1276His)
|
rs142168567
|
|
NM_001853.4(COL9A3):c.1729C>T (p.Arg577Ter)
|
rs1201247953
|
|
NM_001854.4(COL11A1):c.1063T>C (p.Ser355Pro)
|
rs141036911
|
|
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile)
|
rs141817156
|
|
NM_001854.4(COL11A1):c.1792-39ATG[12]
|
rs71752747
|
|
NM_002234.4(KCNA5):c.213_245del (p.Asp72_Pro82del)
|
rs144879674
|
|
NM_002234.4(KCNA5):c.92G>T (p.Gly31Val)
|
rs61737395
|
|
NM_002439.5(MSH3):c.2686G>T (p.Gly896Ter)
|
rs777054839
|
|
NM_002473.6(MYH9):c.4009G>A (p.Glu1337Lys)
|
rs1038334022
|
|
NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys)
|
rs80338834
|
|
NM_002474.3(MYH11):c.2665A>C (p.Lys889Gln)
|
rs762308378
|
|
NM_002769.5(PRSS1):c.346C>T (p.Arg116Cys)
|
rs387906698
|
|
NM_002863.5(PYGL):c.1970-7C>G
|
|
|
NM_003051.4(SLC16A1):c.362-58TATT[9]
|
rs149491709
|
|
NM_003073.5(SMARCB1):c.90C>T (p.Ser30=)
|
rs761868468
|
|
NM_003126.4(SPTA1):c.121C>A (p.Arg41=)
|
rs121918640
|
|
NM_003126.4(SPTA1):c.1703G>A (p.Arg568His)
|
rs200829664
|
|
NM_003126.4(SPTA1):c.1833+1G>A
|
rs1035389616
|
|
NM_003126.4(SPTA1):c.401A>G (p.Glu134Gly)
|
|
|
NM_003126.4(SPTA1):c.4833G>A (p.Arg1611=)
|
rs145288947
|
|
NM_003126.4(SPTA1):c.4875+12C>T
|
rs139797540
|
|
NM_003126.4(SPTA1):c.5834-18A>G
|
|
|
NM_003126.4(SPTA1):c.6121-11del
|
rs548425429
|
|
NM_003126.4(SPTA1):c.6533C>T (p.Ala2178Val)
|
|
|
NM_003126.4(SPTA1):c.6549-12G>A
|
rs857716
|
|
NM_003126.4(SPTA1):c.83G>T (p.Arg28Leu)
|
rs121918641
|
|
NM_003200.5(TCF3):c.888C>T (p.Ala296=)
|
rs34203855
|
|
NM_003238.6(TGFB2):c.510+12TTG[11]
|
rs10482769
|
|
NM_003238.6(TGFB2):c.510+12TTG[13]
|
rs10482769
|
|
NM_003238.6(TGFB2):c.510+12TTG[9]
|
rs10482769
|
|
NM_003238.6(TGFB2):c.904C>T (p.Arg302Cys)
|
rs869312903
|
|
NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys)
|
rs1553303352
|
|
NM_003322.6(TULP1):c.915G>A (p.Val305=)
|
rs1040415272
|
|
NM_003482.4(KMT2D):c.12793G>A (p.Gly4265Ser)
|
|
|
NM_003482.4(KMT2D):c.3392C>T (p.Pro1131Leu)
|
rs201623566
|
|
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln)
|
rs149845612
|
|
NM_003978.5(PSTPIP1):c.1207G>C (p.Gly403Arg)
|
rs369113632
|
|
NM_003978.5(PSTPIP1):c.1221C>A (p.Phe407Leu)
|
rs200363654
|
|
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr)
|
rs80338941
|
|
NM_004444.5(EPHB4):c.1423-6G>A
|
rs762817852
|
|
NM_004444.5(EPHB4):c.2484+1G>A
|
rs927772349
|
|
NM_004444.5(EPHB4):c.2590C>T (p.Arg864Trp)
|
rs769965440
|
|
NM_004984.4(KIF5A):c.2314C>T (p.Arg772Ter)
|
rs1555178616
|
|
NM_004984.4(KIF5A):c.397-16_397-14del
|
rs375316447
|
|
NM_005334.3(HCFC1):c.4638C>T (p.Ala1546=)
|
|
|
NM_005422.4(TECTA):c.5668C>T (p.Arg1890Cys)
|
rs121909063
|
|
NM_005529.7(HSPG2):c.10204G>A (p.Val3402Met)
|
rs150666616
|
|
NM_005529.7(HSPG2):c.11717G>A (p.Arg3906Gln)
|
rs78944354
|
|
NM_005529.7(HSPG2):c.12110G>T (p.Arg4037Leu)
|
rs143015575
|
|
NM_005529.7(HSPG2):c.5997+13del
|
rs529255698
|
|
NM_005529.7(HSPG2):c.744_745inv (p.Val249Met)
|
|
|
NM_005529.7(HSPG2):c.8336G>A (p.Arg2779Gln)
|
rs529205824
|
|
NM_005529.7(HSPG2):c.9329-8_9329-7delinsTT
|
rs386629395
|
|
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val)
|
rs35031397
|
|
NM_006005.3(WFS1):c.2370G>A (p.Ser790=)
|
rs150936382
|
|
NM_006005.3(WFS1):c.2387ACG[3] (p.Asp797dup)
|
rs397517197
|
|
NM_006005.3(WFS1):c.350C>T (p.Thr117Met)
|
rs141225426
|
|
NM_006231.4(POLE):c.4645C>G (p.Pro1549Ala)
|
rs147500308
|
|
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg)
|
rs5744971
|
|
NM_006258.4(PRKG1):c.546G>A (p.Gly182=)
|
rs73336216
|
|
NM_006308.3(HSPB3):c.347G>C (p.Arg116Pro)
|
rs150931007
|
|
NM_006329.4(FBLN5):c.1117C>T (p.Arg373Cys)
|
rs864309526
|
|
NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe)
|
rs117182113
|
|
NM_007272.3(CTRC):c.-59C>T
|
rs183658182
|
|
NM_007272.3(CTRC):c.231-2A>G
|
rs1570783505
|
|
NM_007272.3(CTRC):c.480G>A (p.Trp160Ter)
|
|
|
NM_007272.3(CTRC):c.737G>T (p.Arg246Leu)
|
rs147925927
|
|
NM_014049.5(ACAD9):c.1798_1801del (p.Lys600fs)
|
rs917547961
|
|
NM_014639.4(SKIC3):c.4497-14dup
|
rs755628334
|
|
NM_014920.5(CILK1):c.534C>T (p.Ser178=)
|
rs543243399
|
|
NM_015139.3(SLC35D1):c.393-5dup
|
rs5774854
|
|
NM_015340.4(LARS2):c.945G>A (p.Ser315=)
|
rs145135580
|
|
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser)
|
rs150586098
|
|
NM_017433.5(MYO3A):c.1643C>A (p.Pro548His)
|
rs143918373
|
|
NM_020435.4(GJC2):c.1084G>A (p.Ala362Thr)
|
rs565574386
|
|
NM_020435.4(GJC2):c.454GAG[6] (p.Glu158del)
|
rs746050475
|
|
NM_022124.6(CDH23):c.1087del (p.Val363fs)
|
rs747955135
|
|
NM_022124.6(CDH23):c.5130C>T (p.Ile1710=)
|
rs111033487
|
|
NM_024009.3(GJB3):c.109G>A (p.Val37Met)
|
rs148388884
|
|
NM_024009.3(GJB3):c.652_663del (p.Leu218_Asp221del)
|
rs727503069
|
|
NM_032119.4(ADGRV1):c.7150C>T (p.Arg2384Trp)
|
rs377475657
|
|
NM_033056.4(PCDH15):c.5363TTCCTC[1] (p.1788LP[1])
|
rs779691085
|
|
NM_144687.4(NLRP12):c.2754G>A (p.Leu918=)
|
rs61741347
|
|
NM_144687.4(NLRP12):c.3088C>G (p.Arg1030Gly)
|
rs201619538
|
|
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg)
|
rs41282932
|
|
NM_194248.3(OTOF):c.510-7del
|
|
|
NM_194248.3(OTOF):c.5479C>T (p.Arg1827Trp)
|
rs142748621
|
|
NM_194248.3(OTOF):c.5938G>T (p.Ala1980Ser)
|
rs62640381
|
|
NM_201596.3(CACNB2):c.1670C>T (p.Ser557Leu)
|
rs137886839
|
|