NM_000141.5(FGFR2):c.557T>C (p.Met186Thr)
|
rs755793
|
0.10553
|
NM_002471.4(MYH6):c.166G>A (p.Gly56Arg)
|
rs28711516
|
0.06950
|
NM_000169.3(GLA):c.-10C>T
|
rs2071225
|
0.06441
|
NM_000487.6(ARSA):c.*96A>G
|
rs6151429
|
0.05120
|
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe)
|
rs41277200
|
0.04760
|
NM_032545.4(CFC1):c.61A>C (p.Asn21His)
|
rs199607550
|
0.04207
|
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu)
|
rs17091204
|
0.04081
|
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr)
|
rs57108893
|
0.04049
|
NM_173477.5(USH1G):c.388A>G (p.Lys130Glu)
|
rs111033465
|
0.03966
|
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val)
|
rs1801426
|
0.03864
|
NM_003919.3(SGCE):c.1253+812G>A
|
rs559235992
|
0.03668
|
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser)
|
rs72546667
|
0.03558
|
NM_000018.4(ACADVL):c.194C>T (p.Pro65Leu)
|
rs28934585
|
0.03462
|
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile)
|
rs2237857
|
0.02968
|
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg)
|
rs35782247
|
0.02918
|
NM_020975.6(RET):c.1264-5C>T
|
rs9282835
|
0.02749
|
NM_001083116.3(PRF1):c.11G>A (p.Arg4His)
|
rs35418374
|
0.02616
|
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=)
|
rs34292743
|
0.02604
|
NM_004006.3(DMD):c.2623-11C>G
|
rs1028360
|
0.02567
|
NM_152618.3(BBS12):c.1381A>C (p.Asn461His)
|
rs10027479
|
0.02523
|
NM_001232.4(CASQ2):c.731A>G (p.His244Arg)
|
rs28730716
|
0.02511
|
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr)
|
rs13408961
|
0.02475
|
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg)
|
rs79134187
|
0.02323
|
NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn)
|
rs11896293
|
0.02293
|
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)
|
rs7626962
|
0.02208
|
NM_000426.4(LAMA2):c.8528A>G (p.Asn2843Ser)
|
rs73599293
|
0.02196
|
NM_002470.4(MYH3):c.3938C>T (p.Thr1313Ile)
|
rs35230241
|
0.02138
|
NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser)
|
rs34927702
|
0.02105
|
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln)
|
rs61750129
|
0.02065
|
NM_004369.4(COL6A3):c.1786G>T (p.Ala596Ser)
|
rs34934127
|
0.02035
|
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg)
|
rs11934801
|
0.01974
|
NM_000391.4(TPP1):c.1266+5G>A
|
rs1800753
|
0.01932
|
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val)
|
rs35997569
|
0.01914
|
NM_032119.4(ADGRV1):c.12592G>A (p.Val4198Met)
|
rs2460169
|
0.01906
|
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp)
|
rs2235000
|
0.01889
|
NM_004937.3(CTNS):c.124G>A (p.Val42Ile)
|
rs35086888
|
0.01867
|
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His)
|
rs74922060
|
0.01800
|
NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg)
|
rs115517108
|
0.01785
|
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser)
|
rs146934311
|
0.01744
|
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His)
|
rs11889925
|
0.01714
|
NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys)
|
rs35485382
|
0.01709
|
NM_032119.4(ADGRV1):c.1652T>C (p.Val551Ala)
|
rs6889939
|
0.01679
|
NM_032119.4(ADGRV1):c.7813T>G (p.Leu2605Val)
|
rs79915053
|
0.01674
|
NM_199242.3(UNC13D):c.1579C>T (p.Arg527Trp)
|
rs75366116
|
0.01644
|
NM_001384732.1(CPLANE1):c.5314A>G (p.Ser1772Gly)
|
rs79377186
|
0.01627
|
NM_017819.4(TRMT10C):c.492G>C (p.Lys164Asn)
|
rs16844031
|
0.01605
|
NM_001127178.3(PIGG):c.1967C>T (p.Ala656Val)
|
rs61749092
|
0.01599
|
NM_001378454.1(ALMS1):c.1144A>G (p.Thr382Ala)
|
rs28730849
|
0.01527
|
NM_004525.3(LRP2):c.11759-5T>G
|
rs76488092
|
0.01524
|
NM_006446.5(SLCO1B1):c.1200C>G (p.Phe400Leu)
|
rs59113707
|
0.01516
|
NM_020366.4(RPGRIP1):c.1793G>A (p.Arg598Gln)
|
rs74034910
|
0.01504
|
NM_005045.4(RELN):c.2932A>G (p.Thr978Ala)
|
rs3025962
|
0.01491
|
NM_001160372.4(TRAPPC9):c.1982-20A>C
|
rs74414386
|
0.01477
|
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys)
|
rs2229291
|
0.01469
|
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala)
|
rs200533370
|
0.01462
|
NM_001378183.1(PIEZO2):c.3941C>T (p.Ser1314Phe)
|
rs9959296
|
0.01461
|
NM_004523.4(KIF11):c.3126G>C (p.Leu1042Phe)
|
rs34417963
|
0.01412
|
NM_024753.5(TTC21B):c.1387C>T (p.Pro463Ser)
|
rs16851307
|
0.01408
|
NM_000026.4(ADSL):c.440A>T (p.Lys147Met)
|
rs11089991
|
0.01397
|
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser)
|
rs3218673
|
0.01393
|
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln)
|
rs35824453
|
0.01388
|
NM_001082971.2(DDC):c.629C>T (p.Pro210Leu)
|
rs6262
|
0.01372
|
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg)
|
rs118203576
|
0.01347
|
NM_020964.3(EPG5):c.7557+15T>C
|
rs59817706
|
0.01339
|
NM_003172.4(SURF1):c.167C>G (p.Ala56Gly)
|
rs116779216
|
0.01318
|
NM_002087.4(GRN):c.55C>T (p.Arg19Trp)
|
rs63750723
|
0.01303
|
NM_001848.3(COL6A1):c.2042T>C (p.Ile681Thr)
|
rs138884734
|
0.01280
|
NM_001184.4(ATR):c.4835A>G (p.Asn1612Ser)
|
rs55894265
|
0.01275
|
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg)
|
rs76116949
|
0.01253
|
NM_001846.4(COL4A2):c.649-16C>T
|
rs56269522
|
0.01248
|
NM_031407.7(HUWE1):c.6031-4T>A
|
rs139283158
|
0.01245
|
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser)
|
rs80325569
|
0.01244
|
NM_005045.4(RELN):c.8086G>A (p.Ala2696Thr)
|
rs115640958
|
0.01215
|
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala)
|
rs73063795
|
0.01215
|
NM_001367561.1(DOCK7):c.2471T>C (p.Ile824Thr)
|
rs35400360
|
0.01182
|
NM_031407.7(HUWE1):c.5716+5G>A
|
rs139135300
|
0.01175
|
NM_017890.5(VPS13B):c.4247G>A (p.Arg1416Gln)
|
rs75933366
|
0.01162
|
NM_000071.3(CBS):c.304A>C (p.Lys102Gln)
|
rs34040148
|
0.01138
|
NM_015338.6(ASXL1):c.2513A>G (p.Lys838Arg)
|
rs35632616
|
0.01138
|
NM_032119.4(ADGRV1):c.5747C>T (p.Thr1916Ile)
|
rs35791889
|
0.01134
|
NM_001308093.3(GATA4):c.1141G>A (p.Val381Met)
|
rs114868912
|
0.01121
|
NM_001367561.1(DOCK7):c.1460A>G (p.Lys487Arg)
|
rs72913293
|
0.01118
|
NM_014795.4(ZEB2):c.930C>T (p.Tyr310=)
|
rs6711223
|
0.01102
|
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu)
|
rs61733587
|
0.01098
|
NM_001845.6(COL4A1):c.279+20A>T
|
rs79359215
|
0.01095
|
NM_201384.3(PLEC):c.5477G>A (p.Arg1826Gln)
|
rs147838690
|
0.01083
|
NM_130797.4(DPP6):c.227A>T (p.Asp76Val)
|
rs572667303
|
0.01073
|
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=)
|
rs140587
|
0.01051
|
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr)
|
rs145643112
|
0.01037
|
NM_001374504.1(TMPRSS6):c.1309C>T (p.Arg437Trp)
|
rs117576908
|
0.01035
|
NM_003482.4(KMT2D):c.7670C>T (p.Pro2557Leu)
|
rs189888707
|
0.01025
|
NM_001017995.3(SH3PXD2B):c.1543G>A (p.Asp515Asn)
|
rs62621449
|
0.00992
|
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile)
|
rs59252892
|
0.00979
|
NM_007325.5(GRIA3):c.1501-8T>A
|
rs139058646
|
0.00969
|
NM_019066.5(MAGEL2):c.2611G>T (p.Ala871Ser)
|
rs2233066
|
0.00969
|
NM_019066.5(MAGEL2):c.2612C>T (p.Ala871Val)
|
rs74004212
|
0.00969
|
NM_000521.4(HEXB):c.449C>A (p.Thr150Asn)
|
rs148268937
|
0.00967
|
NM_004525.3(LRP2):c.1167T>G (p.Asp389Glu)
|
rs111704488
|
0.00952
|
NM_170707.4(LMNA):c.1158-44C>T
|
rs141879453
|
0.00929
|
NM_000637.5(GSR):c.334-5T>A
|
rs28641651
|
0.00920
|
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr)
|
rs58037052
|
0.00910
|
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala)
|
rs58238559
|
0.00910
|
NM_004836.7(EIF2AK3):c.1756A>T (p.Ile586Leu)
|
rs75385605
|
0.00906
|
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr)
|
rs191886831
|
0.00894
|
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala)
|
rs150047904
|
0.00893
|
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg)
|
rs1800746
|
0.00889
|
NM_153766.3(KCNJ1):c.199A>G (p.Thr67Ala)
|
rs41302407
|
0.00872
|
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr)
|
rs11571707
|
0.00868
|
NM_001918.5(DBT):c.724T>C (p.Ser242Pro)
|
rs146249007
|
0.00864
|
NM_000535.7(PMS2):c.52A>G (p.Ile18Val)
|
rs63750123
|
0.00861
|
NM_000088.4(COL1A1):c.1615-4C>A
|
rs41316657
|
0.00846
|
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met)
|
rs115582213
|
0.00841
|
NM_030787.4(CFHR5):c.832G>A (p.Gly278Ser)
|
rs139017763
|
0.00815
|
NM_000478.6(ALPL):c.455G>A (p.Arg152His)
|
rs149344982
|
0.00814
|
NM_001378454.1(ALMS1):c.8835C>G (p.Asn2945Lys)
|
rs35062203
|
0.00814
|
NM_001184.4(ATR):c.268C>T (p.His90Tyr)
|
rs28897763
|
0.00813
|
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr)
|
rs11571769
|
0.00809
|
NM_001034853.2(RPGR):c.1367A>G (p.Gln456Arg)
|
rs144635565
|
0.00806
|
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe)
|
rs62109744
|
0.00795
|
NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His)
|
rs111033470
|
0.00784
|
NM_006005.3(WFS1):c.2611G>A (p.Val871Met)
|
rs71532874
|
0.00761
|
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile)
|
rs56177950
|
0.00760
|
NM_000051.4(ATM):c.544G>C (p.Val182Leu)
|
rs3218707
|
0.00757
|
NM_153766.3(KCNJ1):c.1013T>C (p.Met338Thr)
|
rs59172778
|
0.00742
|
NM_001018115.3(FANCD2):c.195G>C (p.Gln65His)
|
rs36084488
|
0.00738
|
NM_019066.5(MAGEL2):c.1079C>T (p.Ala360Val)
|
rs111759069
|
0.00733
|
NM_001374828.1(ARID1B):c.2629C>T (p.Pro877Ser)
|
rs114201726
|
0.00727
|
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile)
|
rs61753381
|
0.00715
|
NM_014043.4(CHMP2B):c.560G>A (p.Ser187Asn)
|
rs78268395
|
0.00705
|
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser)
|
rs77615401
|
0.00699
|
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg)
|
rs1801316
|
0.00694
|
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg)
|
rs75295839
|
0.00687
|
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser)
|
rs147354926
|
0.00685
|
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)
|
rs45439799
|
0.00663
|
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser)
|
rs1800307
|
0.00653
|
NM_018714.3(COG1):c.1049C>T (p.Thr350Met)
|
rs117344829
|
0.00650
|
NM_000215.4(JAK3):c.452C>G (p.Pro151Arg)
|
rs55778349
|
0.00647
|
NM_002470.4(MYH3):c.3592G>A (p.Ala1198Thr)
|
rs61735358
|
0.00641
|
NM_000554.6(CRX):c.365G>A (p.Gly122Asp)
|
rs61748441
|
0.00614
|
NM_001197104.2(KMT2A):c.1504G>A (p.Glu502Lys)
|
rs9332772
|
0.00614
|
NM_004369.4(COL6A3):c.4285+9G>A
|
rs75780727
|
0.00613
|
NM_012418.4(FSCN2):c.412C>T (p.His138Tyr)
|
rs143796236
|
0.00609
|
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter)
|
rs11571833
|
0.00597
|
NM_020639.3(RIPK4):c.2101C>T (p.Pro701Ser)
|
rs35537517
|
0.00597
|
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser)
|
rs16998350
|
0.00594
|
NM_001374828.1(ARID1B):c.3106G>A (p.Gly1036Ser)
|
rs34786733
|
0.00590
|
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val)
|
rs34870424
|
0.00587
|
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu)
|
rs150724610
|
0.00580
|
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser)
|
rs148144444
|
0.00577
|
NM_006662.3(SRCAP):c.3302C>A (p.Thr1101Lys)
|
rs149248373
|
0.00571
|
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn)
|
rs34398445
|
0.00566
|
NM_000138.5(FBN1):c.5343G>A (p.Val1781=)
|
rs140649
|
0.00561
|
NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala)
|
rs79182085
|
0.00560
|
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met)
|
rs73973147
|
0.00558
|
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=)
|
rs41311573
|
0.00548
|
NM_018013.4(SOBP):c.1615A>G (p.Ile539Val)
|
rs146747167
|
0.00548
|
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys)
|
rs2307450
|
0.00547
|
NM_001035.3(RYR2):c.14809-15C>G
|
rs790897
|
0.00538
|
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg)
|
rs138789658
|
0.00530
|
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr)
|
rs193074572
|
0.00529
|
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu)
|
rs121908515
|
0.00521
|
NM_014639.4(SKIC3):c.4187A>G (p.Asn1396Ser)
|
rs116690692
|
0.00511
|
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu)
|
rs61731465
|
0.00502
|
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile)
|
rs141548164
|
0.00498
|
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser)
|
rs147530802
|
0.00493
|
NM_024105.4(ALG12):c.631C>T (p.Arg211Cys)
|
rs144665682
|
0.00490
|
NM_000377.3(WAS):c.995T>C (p.Val332Ala)
|
rs2737799
|
0.00489
|
NM_001374828.1(ARID1B):c.985G>A (p.Gly329Ser)
|
rs375160616
|
0.00475
|
NM_145046.5(CALR3):c.850G>A (p.Asp284Asn)
|
rs10404156
|
0.00473
|
NM_173660.5(DOK7):c.134C>T (p.Ser45Leu)
|
rs62272670
|
0.00470
|
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile)
|
rs56086732
|
0.00458
|
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu)
|
rs75029862
|
0.00451
|
NM_006514.4(SCN10A):c.4009T>A (p.Ser1337Thr)
|
rs11711062
|
0.00451
|
NM_013275.6(ANKRD11):c.744+18C>G
|
rs147328392
|
0.00441
|
NM_001371928.1(AHDC1):c.212C>T (p.Thr71Ile)
|
rs199719452
|
0.00426
|
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg)
|
rs72681869
|
0.00421
|
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp)
|
rs142883891
|
0.00418
|
NM_002294.3(LAMP2):c.1093+2514G>A
|
rs144140265
|
0.00404
|
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His)
|
rs76371972
|
0.00404
|
NM_001458.5(FLNC):c.1549+15C>A
|
rs181134489
|
0.00403
|
NM_002547.3(OPHN1):c.902C>T (p.Thr301Met)
|
rs138108344
|
0.00403
|
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu)
|
rs112306990
|
0.00398
|
NM_001379110.1(SLC9A6):c.-57+50G>T
|
rs201523857
|
0.00383
|
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr)
|
rs77357563
|
0.00382
|
NM_001985.3(ETFB):c.58-96G>A
|
rs140608276
|
0.00376
|
NM_000426.4(LAMA2):c.1634T>A (p.Leu545Gln)
|
rs118083923
|
0.00359
|
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe)
|
rs184814820
|
0.00358
|
NM_000548.5(TSC2):c.2545+26G>A
|
rs45517242
|
0.00356
|
NM_025074.7(FRAS1):c.11227A>G (p.Ile3743Val)
|
rs35370270
|
0.00355
|
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)
|
rs118203657
|
0.00343
|
NM_152564.5(VPS13B):c.2275G>C (p.Val759Leu)
|
rs140848350
|
0.00331
|
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser)
|
rs138155747
|
0.00322
|
NM_000527.5(LDLR):c.67+18C>A
|
rs17242759
|
0.00319
|
NM_001363.5(DKC1):c.776A>C (p.His259Pro)
|
rs61757608
|
0.00316
|
NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe)
|
rs111558968
|
0.00315
|
NM_024747.6(HPS6):c.398C>T (p.Ala133Val)
|
rs199816481
|
0.00315
|
NM_130839.5(UBE3A):c.2618A>G (p.Ter873=)
|
rs76794400
|
0.00313
|
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln)
|
rs147654263
|
0.00312
|
NM_001399.5(EDA):c.206G>T (p.Arg69Leu)
|
rs132630309
|
0.00312
|
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser)
|
rs2229194
|
0.00305
|
NM_003482.4(KMT2D):c.2074C>A (p.Pro692Thr)
|
rs202076833
|
0.00295
|
NM_000501.4(ELN):c.1828G>A (p.Gly610Ser)
|
rs140425210
|
0.00288
|
NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser)
|
rs145733598
|
0.00287
|
NM_001363711.2(DUOX2):c.512T>C (p.Leu171Pro)
|
rs199957468
|
0.00285
|
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu)
|
rs112581563
|
0.00281
|
NM_207037.2(TCF12):c.1520T>G (p.Leu507Arg)
|
rs36060670
|
0.00280
|
NM_006267.5(RANBP2):c.8407A>G (p.Ile2803Val)
|
rs61758804
|
0.00272
|
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys)
|
rs1799954
|
0.00268
|
NM_024408.4(NOTCH2):c.2585C>T (p.Ala862Val)
|
rs35656321
|
0.00266
|
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser)
|
rs45517419
|
0.00264
|
NM_003482.4(KMT2D):c.6629C>T (p.Pro2210Leu)
|
rs201190869
|
0.00260
|
NM_001008537.3(NEXMIF):c.4246C>T (p.Pro1416Ser)
|
rs143577015
|
0.00258
|
NM_001080.3(ALDH5A1):c.130C>G (p.Leu44Val)
|
rs185042766
|
0.00257
|
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu)
|
rs41265127
|
0.00239
|
NM_001371623.1(TCOF1):c.122C>T (p.Ala41Val)
|
rs56180593
|
0.00232
|
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu)
|
rs150563155
|
0.00220
|
NM_006495.4(EVI2B):c.758G>T (p.Cys253Phe)
|
rs115271229
|
0.00207
|
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser)
|
rs144952836
|
0.00206
|
NM_002968.3(SALL1):c.379G>C (p.Val127Leu)
|
rs138635817
|
0.00203
|
NM_000548.5(TSC2):c.1281C>A (p.Ile427=)
|
rs45478892
|
0.00202
|
NM_000168.6(GLI3):c.444C>T (p.Tyr148=)
|
rs142241970
|
0.00191
|
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys)
|
rs117664682
|
0.00186
|
NM_000251.3(MSH2):c.23C>T (p.Thr8Met)
|
rs17217716
|
0.00184
|
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys)
|
rs185788586
|
0.00182
|
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile)
|
rs36021462
|
0.00178
|
NM_004006.3(DMD):c.1483-7C>G
|
rs112463388
|
0.00162
|
NM_001244008.2(KIF1A):c.3085G>A (p.Val1029Met)
|
rs183359489
|
0.00160
|
NM_001127178.3(PIGG):c.1114+9A>G
|
rs150974506
|
0.00159
|
NM_001099857.5(IKBKG):c.169G>A (p.Glu57Lys)
|
rs148695964
|
0.00158
|
NM_005334.3(HCFC1):c.3794C>T (p.Ser1265Leu)
|
rs189548179
|
0.00157
|
NM_015443.4(KANSL1):c.607G>C (p.Gly203Arg)
|
rs138175526
|
0.00156
|
NM_000377.3(WAS):c.1378C>T (p.Pro460Ser)
|
rs143885622
|
0.00152
|
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val)
|
rs61748381
|
0.00150
|
NM_004667.6(HERC2):c.7316C>A (p.Ala2439Asp)
|
rs200823016
|
0.00150
|
NM_001042492.3(NF1):c.846G>A (p.Gln282=)
|
rs138840528
|
0.00149
|
NM_001256447.2(BCAP31):c.383C>T (p.Thr128Met)
|
rs111450526
|
0.00141
|
NM_003072.5(SMARCA4):c.1419+9C>T
|
rs374635008
|
0.00128
|
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly)
|
rs148000791
|
0.00115
|
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr)
|
rs199990883
|
0.00113
|
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile)
|
rs199511876
|
0.00094
|
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg)
|
rs121908242
|
0.00091
|
NM_014795.4(ZEB2):c.2230A>G (p.Ile744Val)
|
rs112005830
|
0.00087
|
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr)
|
rs61753975
|
0.00080
|
NM_000284.4(PDHA1):c.97G>C (p.Asp33His)
|
rs150318528
|
0.00061
|
NM_002470.4(MYH3):c.2683-14C>A
|
rs202129717
|
0.00056
|
NM_020975.6(RET):c.1946C>T (p.Ser649Leu)
|
rs148935214
|
0.00039
|
NM_002025.4(AFF2):c.1121C>A (p.Ser374Tyr)
|
rs200306870
|
0.00025
|
NM_020975.6(RET):c.874G>A (p.Val292Met)
|
rs34682185
|
0.00023
|
NM_001110792.2(MECP2):c.1032C>T (p.Ser344=)
|
rs148744894
|
0.00012
|
NM_175053.4(KRT74):c.821T>C (p.Phe274Ser)
|
rs147962513
|
0.00009
|
NM_006015.6(ARID1A):c.2123A>C (p.Gln708Pro)
|
rs367889013
|
0.00006
|
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe)
|
rs375576481
|
0.00003
|
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn)
|
rs56208331
|
0.00003
|
NM_001365536.1(SCN9A):c.2437A>G (p.Ser813Gly)
|
rs201890240
|
0.00003
|
NM_000088.4(COL1A1):c.1300-8C>G
|
rs41317361
|
|
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser)
|
rs363835
|
|
NM_000489.6(ATRX):c.2595C>G (p.His865Gln)
|
rs61752455
|
|
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys)
|
rs4727853
|
|
NM_000492.4(CFTR):c.1265C>T (p.Ser422Phe)
|
rs201880593
|
|
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu)
|
rs184649564
|
|
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del)
|
rs137854239
|
|
NM_001127178.3(PIGG):c.2069+9G>T
|
rs149305291
|
|
NM_001127222.2(CACNA1A):c.6937CAG[14] (p.Gln2325dup)
|
rs16054
|
|
NM_001164508.2(NEB):c.9467T>A (p.Ile3156Asn)
|
rs145770770
|
|
NM_001205254.2(OCLN):c.922G>A (p.Val308Met)
|
rs369518478
|
|
NM_001267550.2(TTN):c.30512-19dup
|
rs397517532
|
|
NM_001371623.1(TCOF1):c.4326GAA[2] (p.Lys1445del)
|
rs574569798
|
|
NM_001953.4(TYMP):c.929-6_929-3del
|
rs201685922
|
|
NM_002351.5(SH2D1A):c.48C>T (p.Gly16=)
|
rs72610640
|
|
NM_002755.4(MAP2K1):c.694-12TC[4]
|
rs113913469
|
|
NM_003859.3(DPM1):c.679-7_679-6insT
|
rs11480415
|
|
NM_003859.3(DPM1):c.679-7_679-6insTT
|
rs11480415
|
|
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala)
|
rs143247685
|
|
NM_005634.3(SOX3):c.14G>A (p.Arg5Gln)
|
rs112180170
|
|
NM_006261.5(PROP1):c.152G>C (p.Gly51Ala)
|
rs2233783
|
|
NM_012330.4(KAT6B):c.3240GGAAGAAGAGGA[1] (p.Glu1086_Glu1089del)
|
rs201769534
|
|
NM_012330.4(KAT6B):c.4079AAGAGGAAG[2] (p.Glu1366_Glu1368del)
|
rs375513122
|
|
NM_012414.4(RAB3GAP2):c.812-7_812-6del
|
rs35396665
|
|
NM_014795.4(ZEB2):c.3067+6A>T
|
rs143450927
|
|
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup)
|
rs377139749
|
|
NM_018965.4(TREM2):c.287C>A (p.Thr96Lys)
|
rs2234253
|
|
NM_030665.4(RAI1):c.834GCA[10] (p.Gln289_Gln291del)
|
rs371983878
|
|