NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val)
|
rs2147377
|
0.99149
|
NM_004820.5(CYP7B1):c.122+19A>T
|
rs7842714
|
0.39118
|
NM_080605.4(B3GALT6):c.138C>T (p.Ser46=)
|
rs190796582
|
0.15534
|
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4])
|
rs398124622
|
0.06994
|
NM_032119.4(ADGRV1):c.8730+10_8730+11insC
|
rs377585302
|
0.06843
|
NM_002458.3(MUC5B):c.15861A>G (p.Pro5287=)
|
rs56344012
|
0.05669
|
NM_004977.3(KCNC3):c.123G>T (p.Gln41His)
|
rs185017345
|
0.04227
|
NM_032119.4(ADGRV1):c.18804T>G (p.Gly6268=)
|
rs200075846
|
0.03348
|
NM_177965.4(CFAP418):c.55C>G (p.Pro19Ala)
|
rs36096184
|
0.03219
|
NM_001080413.3(NOBOX):c.349C>T (p.Arg117Trp)
|
rs7800847
|
0.02403
|
NM_014239.4(EIF2B2):c.*3G>C
|
rs112087431
|
0.01958
|
NM_152618.3(BBS12):c.378G>T (p.Glu126Asp)
|
rs309369
|
0.01932
|
NM_000143.4(FH):c.904+47G>A
|
rs145209119
|
0.01502
|
NM_001061.7(TBXAS1):c.1349C>A (p.Thr450Asn)
|
rs5763
|
0.01438
|
NM_006059.4(LAMC3):c.-2C>T
|
rs137883250
|
0.01424
|
NM_005379.4(MYO1A):c.1277C>T (p.Pro426Leu)
|
rs4759043
|
0.01201
|
NM_018965.4(TREM2):c.*73G>A
|
rs2234258
|
0.01125
|
NM_005787.6(ALG3):c.319A>G (p.Ile107Val)
|
rs2233463
|
0.01115
|
NM_002878.4(RAD51D):c.698A>G (p.Glu233Gly)
|
rs28363284
|
0.01102
|
NM_000289.6(PFKM):c.2087G>A (p.Arg696His)
|
rs41291971
|
0.01088
|
NM_000451.4(SHOX):c.870G>A (p.Leu290=)
|
rs746391025
|
0.01047
|
NM_001918.5(DBT):c.1281+6T>G
|
rs140115881
|
0.01022
|
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr)
|
rs11466045
|
0.01021
|
NM_006486.3(FBLN1):c.72G>A (p.Ala24=)
|
rs559662894
|
0.01015
|
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala)
|
rs58238559
|
0.00910
|
UGT1A1*6
|
rs4148323
|
0.00891
|
NM_012186.3(FOXE3):c.16G>A (p.Asp6Asn)
|
rs765169217
|
0.00868
|
NM_001128178.3(NPHP1):c.772-17G>A
|
rs146343637
|
0.00862
|
NM_001317778.2(SFTPC):c.43-7G>A
|
rs79440568
|
0.00861
|
NM_025137.4(SPG11):c.808G>A (p.Val270Ile)
|
rs80338868
|
0.00845
|
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile)
|
rs63750055
|
0.00784
|
NM_001367624.2(ZNF469):c.10361G>A (p.Arg3454Gln)
|
rs75288466
|
0.00769
|
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe)
|
rs147155126
|
0.00758
|
NM_001081.4(CUBN):c.2594G>A (p.Ser865Asn)
|
rs138083522
|
0.00756
|
NM_000231.3(SGCG):c.-6T>C
|
rs141771521
|
0.00749
|
NM_001101426.4(CRPPA):c.32C>G (p.Pro11Arg)
|
rs192925278
|
0.00734
|
NM_019066.5(MAGEL2):c.1079C>T (p.Ala360Val)
|
rs111759069
|
0.00733
|
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn)
|
rs143004808
|
0.00716
|
NM_207034.2(EDN3):c.-248G>A
|
rs542818479
|
0.00709
|
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys)
|
rs41549716
|
0.00708
|
NM_001130987.2(DYSF):c.*107T>A
|
rs11903223
|
0.00707
|
NM_001195263.2(PDZD7):c.1613G>A (p.Gly538Glu)
|
rs112571971
|
0.00706
|
NM_003001.5(SDHC):c.*84G>C
|
rs201210474
|
0.00703
|
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His)
|
rs55685423
|
0.00688
|
NM_001148.6(ANK2):c.2377-8C>T
|
rs139893914
|
0.00682
|
NM_000081.4(LYST):c.5945C>T (p.Thr1982Ile)
|
rs146591126
|
0.00669
|
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr)
|
rs111991705
|
0.00667
|
NM_005097.4(LGI1):c.216-55T>C
|
rs143132529
|
0.00666
|
NM_001106.4(ACVR2B):c.1075-5C>T
|
rs115155428
|
0.00657
|
NM_001374385.1(ATP8B1):c.134A>C (p.Asn45Thr)
|
rs146599962
|
0.00657
|
NM_001369268.1(ACAN):c.4264A>G (p.Thr1422Ala)
|
rs35546357
|
0.00645
|
NM_006059.4(LAMC3):c.146A>G (p.Gln49Arg)
|
rs201962705
|
0.00645
|
NM_000540.3(RYR1):c.14589C>T (p.Phe4863=)
|
rs146072491
|
0.00628
|
NM_015158.5(KANK1):c.149A>T (p.Asp50Val)
|
rs61737971
|
0.00617
|
NM_019066.5(MAGEL2):c.1038G>C (p.Arg346Ser)
|
rs115892604
|
0.00605
|
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met)
|
rs35078470
|
0.00601
|
NM_001195248.2(APTX):c.596G>A (p.Arg199His)
|
rs150886026
|
0.00598
|
NM_001366722.1(GRIP1):c.2606G>A (p.Arg869Gln)
|
rs145115262
|
0.00595
|
NM_000843.4(GRM6):c.1953C>T (p.Ala651=)
|
rs62638620
|
0.00587
|
NM_004006.3(DMD):c.3432+2036A>C
|
rs182575709
|
0.00580
|
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His)
|
rs73969684
|
0.00574
|
NM_005379.4(MYO1A):c.916G>A (p.Val306Met)
|
rs55679042
|
0.00570
|
NM_001292063.2(OTOG):c.8542-8C>T
|
rs182750732
|
0.00565
|
NM_001101426.4(CRPPA):c.346C>T (p.Arg116Cys)
|
rs61744487
|
0.00561
|
NM_019616.4(F7):c.740-10T>C
|
rs3093266
|
0.00559
|
NM_001943.5(DSG2):c.473T>G (p.Val158Gly)
|
rs191143292
|
0.00550
|
NM_002087.4(GRN):c.264+7G>A
|
rs60100877
|
0.00548
|
NM_000392.5(ABCC2):c.842G>A (p.Ser281Asn)
|
rs56131651
|
0.00539
|
NM_022124.6(CDH23):c.8022G>A (p.Gln2674=)
|
rs201733315
|
0.00539
|
NM_032229.3(SLITRK6):c.2195G>A (p.Gly732Glu)
|
rs74591375
|
0.00539
|
NM_032322.4(RNF135):c.1245G>T (p.Trp415Cys)
|
rs61749868
|
0.00538
|
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg)
|
rs138789658
|
0.00530
|
NM_001174150.2(ARL13B):c.1186C>G (p.Pro396Ala)
|
rs11554412
|
0.00529
|
NM_000077.5(CDKN2A):c.379G>T (p.Ala127Ser)
|
rs6413464
|
0.00527
|
NM_012188.5(FOXI1):c.726C>T (p.Ser242=)
|
rs35678180
|
0.00520
|
NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile)
|
rs140990288
|
0.00518
|
NM_003664.5(AP3B1):c.2995G>A (p.Val999Met)
|
rs146503597
|
0.00517
|
NM_198576.4(AGRN):c.1123G>T (p.Ala375Ser)
|
rs138031468
|
0.00517
|
NM_022124.6(CDH23):c.3999G>A (p.Val1333=)
|
rs111033453
|
0.00516
|
NM_014639.4(SKIC3):c.4187A>G (p.Asn1396Ser)
|
rs116690692
|
0.00511
|
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser)
|
rs74315394
|
0.00508
|
NM_001039876.3(SYNE4):c.805C>T (p.Leu269=)
|
rs147433902
|
0.00507
|
NM_001177316.2(SLC34A3):c.779G>A (p.Ser260Asn)
|
rs142918575
|
0.00504
|
NM_003331.5(TYK2):c.2783C>T (p.Ala928Val)
|
rs35018800
|
0.00499
|
NM_000843.4(GRM6):c.2092C>G (p.Leu698Val)
|
rs62638623
|
0.00498
|
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)
|
rs141268327
|
0.00496
|
NM_000276.4(OCRL):c.41C>T (p.Thr14Ile)
|
rs61752970
|
0.00495
|
NM_001164405.2(BHLHA9):c.116C>A (p.Ala39Glu)
|
rs551239535
|
0.00489
|
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=)
|
rs142131750
|
0.00488
|
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)
|
rs117852025
|
0.00488
|
NM_004278.4(PIGL):c.424C>A (p.Leu142Met)
|
rs115958467
|
0.00486
|
NM_003647.3(DGKE):c.35C>T (p.Pro12Leu)
|
rs146866423
|
0.00481
|
NM_001384732.1(CPLANE1):c.4698A>G (p.Leu1566=)
|
rs143312971
|
0.00478
|
NM_001136193.2(FASTKD2):c.29G>C (p.Ser10Thr)
|
rs147727753
|
0.00476
|
NM_182961.4(SYNE1):c.1878A>G (p.Gln626=)
|
rs62427038
|
0.00474
|
NM_198506.5(LRIT3):c.1621A>G (p.Ile541Val)
|
rs35997283
|
0.00473
|
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=)
|
rs200816691
|
0.00471
|
NM_030813.6(CLPB):c.668G>A (p.Ser223Asn)
|
rs143097446
|
0.00471
|
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro)
|
rs62346982
|
0.00470
|
NM_001378452.1(ITPR1):c.2226G>A (p.Ala742=)
|
rs41289636
|
0.00470
|
NM_173660.5(DOK7):c.134C>T (p.Ser45Leu)
|
rs62272670
|
0.00470
|
NM_001298.3(CNGA3):c.1569C>T (p.Asn523=)
|
rs61752503
|
0.00467
|
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu)
|
rs145191932
|
0.00466
|
NM_003924.4(PHOX2B):c.726A>G (p.Ala242=)
|
rs757355779
|
0.00466
|
NM_006182.4(DDR2):c.408T>C (p.His136=)
|
rs2271305
|
0.00463
|
NM_003000.3(SDHB):c.24C>T (p.Ser8=)
|
rs148738139
|
0.00461
|
NM_005529.7(HSPG2):c.1998+9C>T
|
rs377228309
|
0.00461
|
NM_022436.3(ABCG5):c.1864A>G (p.Met622Val)
|
rs140374206
|
0.00461
|
NM_001039141.3(TRIOBP):c.391G>A (p.Gly131Ser)
|
rs144634857
|
0.00455
|
NM_001298.3(CNGA3):c.143C>T (p.Pro48Leu)
|
rs62156348
|
0.00451
|
NM_002471.4(MYH6):c.1989C>T (p.Asn663=)
|
rs28730774
|
0.00451
|
NM_004565.3(PEX14):c.795A>G (p.Ser265=)
|
rs41274484
|
0.00451
|
NM_015340.4(LARS2):c.1552G>A (p.Asp518Asn)
|
rs116826217
|
0.00451
|
NM_052989.3(IFT122):c.1273C>T (p.Arg425Trp)
|
rs61744639
|
0.00451
|
NM_153717.3(EVC):c.469C>G (p.Pro157Ala)
|
rs146729456
|
0.00451
|
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=)
|
rs3027888
|
0.00450
|
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala)
|
rs61757684
|
0.00449
|
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)
|
rs2020912
|
0.00448
|
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val)
|
rs113806080
|
0.00446
|
NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser)
|
rs61750615
|
0.00437
|
NM_012254.3(SLC27A5):c.1616T>C (p.Met539Thr)
|
rs147464959
|
0.00437
|
NM_016239.4(MYO15A):c.1941A>C (p.Pro647=)
|
rs537016494
|
0.00437
|
NM_000096.4(CP):c.2522C>G (p.Thr841Arg)
|
rs56033670
|
0.00435
|
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=)
|
rs61751545
|
0.00435
|
NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln)
|
rs138787771
|
0.00432
|
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)
|
rs2227922
|
0.00431
|
NM_001377295.2(GNAT2):c.370G>A (p.Val124Met)
|
rs41280330
|
0.00428
|
NM_006129.5(BMP1):c.1112G>A (p.Arg371His)
|
rs145284541
|
0.00427
|
NM_201384.3(PLEC):c.4366G>A (p.Val1456Met)
|
rs186848953
|
0.00427
|
NM_000186.4(CFH):c.2850G>T (p.Gln950His)
|
rs149474608
|
0.00425
|
NM_181486.4(TBX5):c.787G>A (p.Val263Met)
|
rs147405081
|
0.00423
|
NM_001127671.2(LIFR):c.954C>T (p.Thr318=)
|
rs61748202
|
0.00421
|
NM_020800.3(IFT80):c.371-10C>A
|
rs188321058
|
0.00420
|
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser)
|
rs61737992
|
0.00419
|
NM_001199397.3(NEK1):c.2235T>G (p.Asn745Lys)
|
rs34324114
|
0.00417
|
NM_022095.4(ZNF335):c.826G>A (p.Ala276Thr)
|
rs117802609
|
0.00417
|
NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn)
|
rs143070183
|
0.00415
|
NM_006982.3(ALX1):c.191G>T (p.Arg64Leu)
|
rs115596276
|
0.00412
|
NM_030777.4(SLC2A10):c.366C>T (p.Tyr122=)
|
rs34990188
|
0.00411
|
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met)
|
rs36215895
|
0.00411
|
NM_007078.3(LDB3):c.352G>A (p.Val118Met)
|
rs35507268
|
0.00408
|
NM_012179.4(FBXO7):c.122+9G>A
|
rs192327462
|
0.00407
|
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr)
|
rs45503297
|
0.00407
|
NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val)
|
rs114734921
|
0.00406
|
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)
|
rs188164241
|
0.00405
|
NM_000747.3(CHRNB1):c.1045-6C>G
|
rs79209506
|
0.00404
|
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln)
|
rs72647894
|
0.00404
|
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe)
|
rs16955851
|
0.00404
|
NM_016013.4(NDUFAF1):c.-6T>G
|
rs180730324
|
0.00404
|
NM_005634.3(SOX3):c.157G>C (p.Val53Leu)
|
rs200361128
|
0.00403
|
NM_000433.4(NCF2):c.1360C>T (p.Pro454Ser)
|
rs55761650
|
0.00401
|
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=)
|
rs111033516
|
0.00401
|
NM_201384.3(PLEC):c.5304G>A (p.Leu1768=)
|
rs186670912
|
0.00400
|
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu)
|
rs35001569
|
0.00399
|
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp)
|
rs61749249
|
0.00399
|
NM_001376256.1(CRYM):c.807T>C (p.Phe269=)
|
rs144588424
|
0.00398
|
NM_006158.5(NEFL):c.1275C>T (p.Gly425=)
|
rs114329068
|
0.00395
|
NM_001551.3(IGBP1):c.608T>C (p.Ile203Thr)
|
rs61755732
|
0.00391
|
NM_012418.4(FSCN2):c.150C>G (p.Pro50=)
|
rs184519759
|
0.00391
|
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys)
|
rs45608240
|
0.00391
|
NM_032119.4(ADGRV1):c.8691A>C (p.Glu2897Asp)
|
rs201586455
|
0.00391
|
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys)
|
rs35932623
|
0.00390
|
NM_022369.4(STRA6):c.1223G>A (p.Arg408Gln)
|
rs150814749
|
0.00390
|
NM_002335.4(LRP5):c.4000+9C>T
|
rs148685646
|
0.00389
|
NM_001374385.1(ATP8B1):c.1177A>G (p.Ile393Val)
|
rs34315917
|
0.00388
|
NM_182961.4(SYNE1):c.1983C>T (p.Asn661=)
|
rs149670417
|
0.00388
|
NM_001004334.4(GPR179):c.3847C>T (p.Pro1283Ser)
|
rs150125328
|
0.00382
|
NM_032790.4(ORAI1):c.135_136insT (p.Pro46Serfs)
|
rs375895928
|
0.00381
|
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser)
|
rs137853921
|
0.00380
|
NM_000057.4(BLM):c.1722A>G (p.Leu574=)
|
rs28385011
|
0.00379
|
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu)
|
rs139432601
|
0.00379
|
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr)
|
rs72650011
|
0.00378
|
NM_001286445.3(RIPOR2):c.1764T>C (p.Asn588=)
|
rs145837095
|
0.00378
|
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys)
|
rs72648272
|
0.00377
|
NM_001364905.1(LRBA):c.2526T>C (p.Phe842=)
|
rs139428189
|
0.00376
|
NM_012188.5(FOXI1):c.677C>T (p.Thr226Ile)
|
rs115399307
|
0.00376
|
NM_024809.5(TCTN2):c.810C>T (p.Asp270=)
|
rs144567556
|
0.00376
|
NM_000492.4(CFTR):c.-812T>G
|
rs181008242
|
0.00375
|
NM_003835.4(RGS9):c.495G>A (p.Gln165=)
|
rs147874330
|
0.00375
|
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val)
|
rs139767853
|
0.00374
|
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=)
|
rs148197254
|
0.00374
|
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser)
|
rs55980498
|
0.00372
|
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg)
|
rs148999583
|
0.00372
|
NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn)
|
rs199839743
|
0.00372
|
NM_001029883.3(PCARE):c.3447G>A (p.Pro1149=)
|
rs200278694
|
0.00371
|
NM_001206979.2(NR1H4):c.518T>C (p.Met173Thr)
|
rs61755050
|
0.00371
|
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe)
|
rs45517932
|
0.00371
|
NM_003896.4(ST3GAL5):c.648C>T (p.Phe216=)
|
rs149309844
|
0.00369
|
NM_001015880.2(PAPSS2):c.375C>T (p.Phe125=)
|
rs145230931
|
0.00368
|
NM_004260.4(RECQL4):c.1704+9C>T
|
rs35876881
|
0.00365
|
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala)
|
rs56201325
|
0.00364
|
NM_002693.3(POLG):c.803G>C (p.Gly268Ala)
|
rs61752784
|
0.00364
|
NM_004656.4(BAP1):c.1729+8T>C
|
rs150945583
|
0.00364
|
NM_198999.3(SLC26A5):c.1335T>C (p.Ile445=)
|
rs142639517
|
0.00364
|
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)
|
rs4988345
|
0.00363
|
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)
|
rs28938473
|
0.00362
|
NM_021072.4(HCN1):c.140G>T (p.Gly47Val)
|
rs544994462
|
0.00362
|
NM_000548.5(TSC2):c.2031C>T (p.Pro677=)
|
rs45517208
|
0.00361
|
NM_001277115.2(DNAH11):c.11805G>A (p.Pro3935=)
|
rs187489343
|
0.00361
|
NM_001377.3(DYNC2H1):c.10650A>G (p.Ser3550=)
|
rs185562630
|
0.00361
|
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu)
|
rs10482810
|
0.00359
|
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val)
|
rs137853909
|
0.00359
|
NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala)
|
rs141464488
|
0.00359
|
NM_147127.5(EVC2):c.707-4G>A
|
rs113806963
|
0.00357
|
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys)
|
rs41303287
|
0.00356
|
NM_006486.3(FBLN1):c.1441+9G>A
|
rs142798380
|
0.00355
|
NM_001252024.2(TRPM1):c.3549G>C (p.Gln1183His)
|
rs182549235
|
0.00354
|
NM_000098.3(CPT2):c.1763C>G (p.Ser588Cys)
|
rs1871748
|
0.00353
|
NM_000208.4(INSR):c.2193G>A (p.Thr731=)
|
rs6413501
|
0.00350
|
NM_012186.3(FOXE3):c.898A>G (p.Ser300Gly)
|
rs552420470
|
0.00350
|
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met)
|
rs115784602
|
0.00349
|
NM_001195263.2(PDZD7):c.572T>A (p.Val191Glu)
|
rs118098246
|
0.00348
|
NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser)
|
rs149073355
|
0.00347
|
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg)
|
rs34534613
|
0.00346
|
NM_182961.4(SYNE1):c.11485A>G (p.Thr3829Ala)
|
rs115786671
|
0.00346
|
NM_000500.9(CYP21A2):c.293-4G>A
|
rs147821751
|
0.00345
|
NM_014208.3(DSPP):c.1060C>T (p.Arg354Cys)
|
rs61731011
|
0.00345
|
NM_144709.4(PUS10):c.-16+254C>G
|
rs147461642
|
0.00345
|
NM_003816.3(ADAM9):c.226G>A (p.Glu76Lys)
|
rs61753672
|
0.00344
|
NM_014714.4(IFT140):c.3711C>T (p.Phe1237=)
|
rs146172074
|
0.00344
|
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe)
|
rs146181116
|
0.00343
|
NM_001793.6(CDH3):c.805A>C (p.Met269Leu)
|
rs36038900
|
0.00341
|
NM_022089.4(ATP13A2):c.2724G>A (p.Ser908=)
|
rs79724242
|
0.00341
|
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=)
|
rs55717455
|
0.00341
|
NM_182914.3(SYNE2):c.20011G>A (p.Ala6671Thr)
|
rs34820571
|
0.00341
|
NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys)
|
rs5743277
|
0.00340
|
NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=)
|
rs56356283
|
0.00340
|
NM_001374385.1(ATP8B1):c.246A>G (p.Thr82=)
|
rs34623939
|
0.00337
|
NM_031433.4(MFRP):c.641+9C>T
|
rs189840088
|
0.00337
|
NM_182914.3(SYNE2):c.6714+3G>A
|
rs142902034
|
0.00337
|
NM_001146079.2(CLDN14):c.*10G>C
|
rs139628442
|
0.00336
|
NM_001164508.2(NEB):c.5555T>G (p.Met1852Arg)
|
rs144180493
|
0.00336
|
NM_001540.5(HSPB1):c.9G>A (p.Glu3=)
|
rs77586767
|
0.00336
|
NM_002412.5(MGMT):c.88G>A (p.Glu30Lys)
|
rs2020893
|
0.00335
|
NM_182914.3(SYNE2):c.20158C>T (p.Arg6720Trp)
|
rs35700578
|
0.00335
|
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=)
|
rs118126378
|
0.00334
|
NM_001012720.2(RGR):c.744+5A>G
|
rs143720091
|
0.00334
|
NM_001164508.2(NEB):c.22122C>G (p.Asp7374Glu)
|
rs192402741
|
0.00334
|
NM_153240.5(NPHP3):c.1189C>T (p.Arg397Cys)
|
rs141477666
|
0.00334
|
NM_173630.4(RTTN):c.635A>C (p.Asp212Ala)
|
rs12956068
|
0.00334
|
NM_181426.2(CCDC39):c.1073C>T (p.Thr358Ile)
|
rs183413880
|
0.00334
|
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser)
|
rs199689193
|
0.00333
|
NM_000548.5(TSC2):c.729C>G (p.Leu243=)
|
rs45473698
|
0.00332
|
NM_012254.3(SLC27A5):c.1160G>A (p.Arg387Gln)
|
rs142672241
|
0.00331
|
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=)
|
rs61733684
|
0.00329
|
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser)
|
rs55680026
|
0.00329
|
NM_014918.5(CHSY1):c.1325T>C (p.Met442Thr)
|
rs148193087
|
0.00329
|
NM_020987.5(ANK3):c.10055A>G (p.Glu3352Gly)
|
rs61845768
|
0.00329
|
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys)
|
rs138490756
|
0.00328
|
NM_001378414.1(HDAC4):c.958G>A (p.Val320Ile)
|
rs73000144
|
0.00328
|
NM_024596.5(MCPH1):c.477A>T (p.Ser159=)
|
rs41313948
|
0.00328
|
NM_001377.3(DYNC2H1):c.9939T>C (p.Ala3313=)
|
rs192003811
|
0.00327
|
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn)
|
rs78727187
|
0.00327
|
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys)
|
rs34102501
|
0.00327
|
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met)
|
rs143669458
|
0.00326
|
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)
|
rs34382952
|
0.00326
|
NM_016239.4(MYO15A):c.1385G>A (p.Gly462Asp)
|
rs145292219
|
0.00326
|
NM_000458.4(HNF1B):c.1413C>T (p.Pro471=)
|
rs140781855
|
0.00325
|
NM_147127.5(EVC2):c.2621G>A (p.Arg874Gln)
|
rs114764023
|
0.00325
|
NM_032119.4(ADGRV1):c.18746T>G (p.Leu6249Arg)
|
rs41311625
|
0.00324
|
NM_015909.4(NBAS):c.3217C>T (p.Arg1073Cys)
|
rs147322367
|
0.00323
|
NM_001134407.3(GRIN2A):c.662A>G (p.Lys221Arg)
|
rs61731464
|
0.00322
|
NM_001701.4(BAAT):c.409G>A (p.Val137Ile)
|
rs144591246
|
0.00322
|
NM_004999.4(MYO6):c.2534C>T (p.Thr845Ile)
|
rs55662069
|
0.00322
|
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser)
|
rs138155747
|
0.00322
|
NM_170707.4(LMNA):c.357C>T (p.Arg119=)
|
rs41313880
|
0.00321
|
NM_000070.3(CAPN3):c.1746-20C>G
|
rs201892814
|
0.00320
|
NM_001177316.2(SLC34A3):c.1140C>T (p.Leu380=)
|
rs113568956
|
0.00320
|
NM_021939.4(FKBP10):c.1307T>C (p.Ile436Thr)
|
rs61749879
|
0.00320
|
NM_147127.5(EVC2):c.864C>T (p.Asn288=)
|
rs144730069
|
0.00320
|
NM_213599.3(ANO5):c.680G>C (p.Gly227Ala)
|
rs140903276
|
0.00320
|
NM_000540.3(RYR1):c.2415T>C (p.Pro805=)
|
rs141881325
|
0.00319
|
NM_147127.5(EVC2):c.1471-7T>C
|
rs150842594
|
0.00319
|
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys)
|
rs35136134
|
0.00318
|
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu)
|
rs71534278
|
0.00318
|
NM_001377.3(DYNC2H1):c.8881G>A (p.Ala2961Thr)
|
rs199568537
|
0.00317
|
NM_033337.3(CAV3):c.233C>T (p.Thr78Met)
|
rs72546668
|
0.00317
|
NM_144508.5(KNL1):c.1129A>G (p.Ile377Val)
|
rs144726295
|
0.00317
|
NM_002693.3(POLG):c.134A>G (p.Gln45Arg)
|
rs201016638
|
0.00316
|
NM_198253.3(TERT):c.1234C>T (p.His412Tyr)
|
rs34094720
|
0.00316
|
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val)
|
rs41306397
|
0.00315
|
NM_001029883.3(PCARE):c.3178C>A (p.Pro1060Thr)
|
rs72861054
|
0.00315
|
NM_001203.3(BMPR1B):c.*9G>C
|
rs112333283
|
0.00314
|
NM_025074.7(FRAS1):c.806G>A (p.Arg269Gln)
|
rs202231425
|
0.00313
|
NM_000539.3(RHO):c.360C>T (p.Gly120=)
|
rs79765751
|
0.00312
|
NM_000875.5(IGF1R):c.225C>T (p.Phe75=)
|
rs55770488
|
0.00312
|
NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys)
|
rs143766955
|
0.00312
|
NM_006565.4(CTCF):c.1927C>T (p.Pro643Ser)
|
rs145727304
|
0.00312
|
NM_007078.3(LDB3):c.147G>A (p.Val49=)
|
rs45591834
|
0.00312
|
NM_001083961.2(WDR62):c.3812C>T (p.Ala1271Val)
|
rs111294536
|
0.00310
|
NM_001277313.2(FMN1):c.2583A>G (p.Ala861=)
|
rs61740952
|
0.00310
|
NM_006493.4(CLN5):c.-87C>T
|
rs200353554
|
0.00309
|
NM_181507.2(HPS5):c.345G>A (p.Met115Ile)
|
rs149229493
|
0.00309
|
NM_001089.3(ABCA3):c.4420C>T (p.Arg1474Trp)
|
rs146709251
|
0.00308
|
NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=)
|
rs72657304
|
0.00308
|
NM_001292063.2(OTOG):c.7631G>A (p.Arg2544Gln)
|
rs76461792
|
0.00308
|
NM_001297.5(CNGB1):c.1479G>A (p.Pro493=)
|
rs1052029
|
0.00308
|
NM_001297.5(CNGB1):c.1626C>T (p.Thr542=)
|
rs148735841
|
0.00308
|
NM_001384474.1(LOXHD1):c.6741C>T (p.Ala2247=)
|
rs189873733
|
0.00308
|
NM_198525.3(KIF7):c.2501A>G (p.Gln834Arg)
|
rs138354681
|
0.00308
|
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu)
|
rs56344740
|
0.00307
|
NM_181741.4(ORC4):c.857C>T (p.Ala286Val)
|
rs75002266
|
0.00307
|
NM_198525.3(KIF7):c.1429G>A (p.Ala477Thr)
|
rs527804875
|
0.00307
|
NM_001853.4(COL9A3):c.1427C>G (p.Pro476Arg)
|
rs142066316
|
0.00306
|
NM_005529.7(HSPG2):c.10937G>A (p.Arg3646His)
|
rs112062179
|
0.00305
|
NM_001039141.3(TRIOBP):c.2105A>G (p.Gln702Arg)
|
rs202079450
|
0.00304
|
NM_001042413.2(GLIS3):c.1545G>C (p.Glu515Asp)
|
rs72687988
|
0.00304
|
NM_001111.5(ADAR):c.2553C>T (p.Cys851=)
|
rs138927668
|
0.00304
|
NM_000260.4(MYO7A):c.5324T>C (p.Ile1775Thr)
|
rs115123584
|
0.00303
|
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys)
|
rs119103280
|
0.00303
|
NM_004484.4(GPC3):c.1167-8T>C
|
rs182950534
|
0.00303
|
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu)
|
rs142813109
|
0.00303
|
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro)
|
rs145649423
|
0.00301
|
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln)
|
rs141973925
|
0.00301
|
NM_017547.4(FOXRED1):c.124A>C (p.Lys42Gln)
|
rs148346044
|
0.00301
|
NM_201384.3(PLEC):c.4651C>T (p.Arg1551Cys)
|
rs2857824
|
0.00301
|
NM_000101.4(CYBA):c.403G>A (p.Glu135Lys)
|
rs114610092
|
0.00300
|
NM_001101426.4(CRPPA):c.67G>T (p.Gly23Cys)
|
rs187484645
|
0.00299
|
NM_001130823.3(DNMT1):c.891+8C>T
|
rs117294281
|
0.00299
|
NM_052989.3(IFT122):c.321A>G (p.Gln107=)
|
rs138793724
|
0.00299
|
NM_001378454.1(ALMS1):c.10464A>G (p.Val3488=)
|
rs28730858
|
0.00297
|
NM_007126.5(VCP):c.1704A>G (p.Gln568=)
|
rs142577424
|
0.00296
|
NM_025074.7(FRAS1):c.8832C>T (p.Ser2944=)
|
rs114854941
|
0.00296
|
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys)
|
rs192376005
|
0.00295
|
NM_003722.5(TP63):c.1531C>A (p.Pro511Thr)
|
rs148076109
|
0.00295
|
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=)
|
rs55921307
|
0.00295
|
NM_001267550.2(TTN):c.3409G>C (p.Gly1137Arg)
|
rs72647870
|
0.00293
|
NM_213599.3(ANO5):c.259G>A (p.Val87Ile)
|
rs34994927
|
0.00293
|
NM_001378414.1(HDAC4):c.1953C>T (p.Pro651=)
|
rs146056747
|
0.00292
|
NM_005006.7(NDUFS1):c.421-7A>G
|
rs192949406
|
0.00292
|
NM_006929.5(SKIC2):c.179A>G (p.Gln60Arg)
|
rs35985869
|
0.00292
|
NM_007078.3(LDB3):c.163G>A (p.Val55Ile)
|
rs3740343
|
0.00292
|
NM_014363.6(SACS):c.3129A>G (p.Ser1043=)
|
rs148878361
|
0.00292
|
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=)
|
rs144906721
|
0.00292
|
NM_000780.4(CYP7A1):c.1192C>G (p.Pro398Ala)
|
rs142708991
|
0.00290
|
NM_001031679.3(MSRB3):c.180C>T (p.Thr60=)
|
rs147698935
|
0.00290
|
NM_001034852.3(SMOC1):c.567G>A (p.Pro189=)
|
rs142590267
|
0.00290
|
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu)
|
rs72648256
|
0.00290
|
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn)
|
rs41302885
|
0.00290
|
NM_020436.5(SALL4):c.2215G>T (p.Ala739Ser)
|
rs41274696
|
0.00290
|
NM_001875.5(CPS1):c.529-4A>T
|
rs191182348
|
0.00289
|
NM_014014.5(SNRNP200):c.5664C>T (p.His1888=)
|
rs139731897
|
0.00289
|
NM_022124.6(CDH23):c.2970C>T (p.Asp990=)
|
rs56216952
|
0.00289
|
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile)
|
rs202014478
|
0.00288
|
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg)
|
rs138428684
|
0.00288
|
NM_004715.5(CTDP1):c.2274G>A (p.Pro758=)
|
rs140627086
|
0.00288
|
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=)
|
rs45438898
|
0.00287
|
NM_000875.5(IGF1R):c.1310G>A (p.Arg437His)
|
rs34516635
|
0.00287
|
NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln)
|
rs72677233
|
0.00287
|
NM_001292063.2(OTOG):c.2398G>A (p.Asp800Asn)
|
rs141010212
|
0.00287
|
NM_005045.4(RELN):c.3651C>G (p.Ile1217Met)
|
rs56342240
|
0.00287
|
NM_020451.3(SELENON):c.1281+42G>A
|
rs201047535
|
0.00286
|
NM_138694.4(PKHD1):c.4920A>G (p.Val1640=)
|
rs142465959
|
0.00286
|
NM_147127.5(EVC2):c.122C>A (p.Pro41His)
|
rs544397395
|
0.00286
|
NM_025074.7(FRAS1):c.6584A>G (p.Glu2195Gly)
|
rs10029227
|
0.00285
|
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)
|
rs142787001
|
0.00284
|
NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu)
|
rs55821405
|
0.00284
|
NM_006231.4(POLE):c.6820C>G (p.Leu2274Val)
|
rs148788180
|
0.00284
|
NM_016341.4(PLCE1):c.2728G>A (p.Val910Ile)
|
rs61751497
|
0.00284
|
NM_018136.5(ASPM):c.3599-4A>G
|
rs149303254
|
0.00284
|
NM_000501.4(ELN):c.1566T>A (p.Gly522=)
|
rs61734584
|
0.00283
|
NM_012179.4(FBXO7):c.693C>T (p.Ser231=)
|
rs61752254
|
0.00283
|
NM_001369.3(DNAH5):c.5266G>A (p.Glu1756Lys)
|
rs116524991
|
0.00282
|
NM_000260.4(MYO7A):c.905G>A (p.Arg302His)
|
rs41298135
|
0.00281
|
NM_001004334.4(GPR179):c.5563C>G (p.Leu1855Val)
|
rs79954845
|
0.00280
|
NM_001164277.2(SLC37A4):c.593A>T (p.Asn198Ile)
|
rs34203644
|
0.00280
|
NM_016239.4(MYO15A):c.4888C>T (p.Arg1630Cys)
|
rs138861831
|
0.00280
|
NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser)
|
rs112532048
|
0.00279
|
NM_000057.4(BLM):c.1928G>A (p.Arg643His)
|
rs12720097
|
0.00278
|
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val)
|
rs182650126
|
0.00278
|
NM_001384140.1(PCDH15):c.4860G>A (p.Thr1620=)
|
rs148772706
|
0.00278
|
NM_182961.4(SYNE1):c.4162C>T (p.Arg1388Trp)
|
rs34028822
|
0.00278
|
NM_000059.4(BRCA2):c.68-7T>A
|
rs81002830
|
0.00277
|
NM_014639.4(SKIC3):c.860A>G (p.Lys287Arg)
|
rs145168629
|
0.00277
|
NM_172364.5(CACNA2D4):c.888G>A (p.Val296=)
|
rs192991525
|
0.00277
|
NM_000152.5(GAA):c.1552-13G>A
|
rs111261964
|
0.00276
|
NM_000260.4(MYO7A):c.1854G>A (p.Leu618=)
|
rs35429535
|
0.00276
|
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln)
|
rs62646862
|
0.00276
|
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu)
|
rs34120922
|
0.00276
|
NM_004260.4(RECQL4):c.3609C>T (p.Leu1203=)
|
rs201384843
|
0.00276
|
NM_022042.4(SLC26A1):c.*877C>T
|
rs200911718
|
0.00276
|
NM_144997.7(FLCN):c.1177-21G>A
|
rs150687840
|
0.00276
|
NM_182961.4(SYNE1):c.2177A>G (p.Glu726Gly)
|
rs35297226
|
0.00276
|
NM_001378615.1(CC2D2A):c.2475C>T (p.Ile825=)
|
rs113835820
|
0.00275
|
NM_173630.4(RTTN):c.5143A>G (p.Asn1715Asp)
|
rs35374168
|
0.00275
|
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys)
|
rs146458902
|
0.00274
|
NM_000969.5(RPL5):c.3+3G>C
|
rs200628272
|
0.00274
|
NM_001558.4(IL10RA):c.696C>T (p.Thr232=)
|
rs4252311
|
0.00274
|
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu)
|
rs34004222
|
0.00274
|
NM_182961.4(SYNE1):c.13863G>A (p.Thr4621=)
|
rs112266645
|
0.00274
|
NM_205861.3(DHDDS):c.140G>A (p.Arg47Gln)
|
rs149949619
|
0.00274
|
NM_207361.6(FREM2):c.2128C>T (p.Arg710Cys)
|
rs41292753
|
0.00274
|
NM_001159773.2(CANT1):c.1123A>T (p.Met375Leu)
|
rs139486406
|
0.00273
|
NM_020822.3(KCNT1):c.333G>A (p.Ser111=)
|
rs56008253
|
0.00273
|
NM_182894.3(VSX2):c.522C>T (p.Asp174=)
|
rs78509400
|
0.00273
|
NM_004172.5(SLC1A3):c.1489T>C (p.Leu497=)
|
rs150357327
|
0.00272
|
NM_004625.4(WNT7A):c.75C>T (p.Gly25=)
|
rs35103037
|
0.00272
|
NM_016247.4(IMPG2):c.3038C>T (p.Pro1013Leu)
|
rs116450347
|
0.00272
|
NM_001395413.1(POR):c.674C>T (p.Pro225Leu)
|
rs17853284
|
0.00271
|
NM_005422.4(TECTA):c.972G>C (p.Val324=)
|
rs147790742
|
0.00271
|
NM_032043.3(BRIP1):c.2097+7G>A
|
rs4988352
|
0.00271
|
NM_198999.3(SLC26A5):c.137T>C (p.Leu46Pro)
|
rs141952919
|
0.00271
|
NM_001128205.2(SULF1):c.669G>T (p.Ala223=)
|
rs111474126
|
0.00270
|
NM_004727.3(SLC24A1):c.2764T>C (p.Trp922Arg)
|
rs146253044
|
0.00270
|
NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg)
|
rs146165014
|
0.00270
|
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser)
|
rs140824939
|
0.00270
|
NM_000213.5(ITGB4):c.4008C>T (p.Asp1336=)
|
rs61735288
|
0.00269
|
NM_018979.4(WNK1):c.5281-4G>A
|
rs72650740
|
0.00269
|
NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met)
|
rs61757691
|
0.00269
|
NM_000441.2(SLC26A4):c.2139T>G (p.Ile713Met)
|
rs143708308
|
0.00268
|
NM_006182.4(DDR2):c.1382C>T (p.Ser461Leu)
|
rs140710321
|
0.00268
|
NM_000335.5(SCN5A):c.486C>T (p.Tyr162=)
|
rs45489099
|
0.00267
|
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile)
|
rs188807564
|
0.00267
|
NM_001386140.1(MTTP):c.552A>T (p.Lys184Asn)
|
rs144315111
|
0.00267
|
NM_004369.4(COL6A3):c.2463T>C (p.Ser821=)
|
rs115387170
|
0.00267
|
NM_024577.4(SH3TC2):c.1842C>T (p.Asp614=)
|
rs138411915
|
0.00267
|
NM_015272.5(RPGRIP1L):c.3745G>T (p.Asp1249Tyr)
|
rs148773489
|
0.00266
|
NM_020361.5(CPA6):c.1237C>T (p.Leu413Phe)
|
rs142597675
|
0.00266
|
NM_001378615.1(CC2D2A):c.4459C>T (p.Arg1487Cys)
|
rs186486235
|
0.00265
|
NM_005529.7(HSPG2):c.7086C>T (p.Cys2362=)
|
rs139001173
|
0.00265
|
NM_000542.5(SFTPB):c.526C>T (p.Leu176Phe)
|
rs3024801
|
0.00264
|
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser)
|
rs45517419
|
0.00264
|
NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg)
|
rs72646823
|
0.00264
|
NM_014141.6(CNTNAP2):c.3105C>T (p.Asn1035=)
|
rs112483670
|
0.00264
|
NM_014639.4(SKIC3):c.4344A>G (p.Leu1448=)
|
rs139074002
|
0.00264
|
NM_016239.4(MYO15A):c.4779+9G>A
|
rs183256997
|
0.00264
|
NM_017849.4(TMEM127):c.268G>A (p.Val90Met)
|
rs121908823
|
0.00264
|
NM_018100.4(EFHC1):c.25T>C (p.Leu9=)
|
rs149315015
|
0.00264
|
NM_001267550.2(TTN):c.70952T>G (p.Ile23651Ser)
|
rs149075285
|
0.00263
|
NM_025243.4(SLC19A3):c.546G>A (p.Val182=)
|
rs143188189
|
0.00263
|
NM_201384.3(PLEC):c.9718G>A (p.Glu3240Lys)
|
rs75857070
|
0.00263
|
NM_000193.4(SHH):c.570G>A (p.Ser190=)
|
rs9333633
|
0.00262
|
NM_001191061.2(SLC25A22):c.705T>C (p.Ala235=)
|
rs142861804
|
0.00262
|
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser)
|
rs72648949
|
0.00262
|
NM_025237.3(SOST):c.-10G>A
|
rs190743758
|
0.00262
|
NM_182914.3(SYNE2):c.12560A>T (p.Asn4187Ile)
|
rs34480732
|
0.00262
|
NM_001291303.3(FAT4):c.14666G>A (p.Arg4889Lys)
|
rs35845544
|
0.00261
|
NM_001376.5(DYNC1H1):c.9138G>T (p.Ser3046=)
|
rs34338935
|
0.00261
|
NM_001379286.1(ZNF423):c.3393C>T (p.Pro1131=)
|
rs61755180
|
0.00261
|
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=)
|
rs34201226
|
0.00261
|
NM_004560.4(ROR2):c.7C>T (p.Arg3Trp)
|
rs539329891
|
0.00261
|
NM_005562.3(LAMC2):c.493C>T (p.Arg165Cys)
|
rs142335339
|
0.00261
|
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala)
|
rs146519878
|
0.00261
|
NM_000433.4(NCF2):c.563G>A (p.Arg188Lys)
|
rs115365142
|
0.00260
|
NM_000540.3(RYR1):c.11360-9T>A
|
rs150187840
|
0.00260
|
NM_000900.5(MGP):c.115A>C (p.Asn39His)
|
rs145210821
|
0.00260
|
NM_003482.4(KMT2D):c.6629C>T (p.Pro2210Leu)
|
rs201190869
|
0.00260
|
NM_006662.3(SRCAP):c.8703A>G (p.Leu2901=)
|
rs61746613
|
0.00260
|
NM_015340.4(LARS2):c.2602G>A (p.Glu868Lys)
|
rs34965084
|
0.00260
|
NM_000158.4(GBE1):c.405C>T (p.Leu135=)
|
rs139882066
|
0.00259
|
NM_013372.7(GREM1):c.103C>G (p.Pro35Ala)
|
rs111262341
|
0.00259
|
NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile)
|
rs143157673
|
0.00258
|
NM_001429.4(EP300):c.865A>G (p.Met289Val)
|
rs2230111
|
0.00258
|
NM_001849.4(COL6A2):c.2220T>C (p.Asp740=)
|
rs61735830
|
0.00258
|
NM_003816.3(ADAM9):c.280G>A (p.Val94Ile)
|
rs146980702
|
0.00258
|
NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln)
|
rs140756827
|
0.00258
|
NM_133379.5(TTN):c.16160G>A (p.Cys5387Tyr)
|
rs72648913
|
0.00258
|
NM_000391.4(TPP1):c.840G>C (p.Leu280=)
|
rs140349036
|
0.00257
|
NM_001130438.3(SPTAN1):c.774G>A (p.Gln258=)
|
rs138609094
|
0.00257
|
NM_001164508.2(NEB):c.10744G>A (p.Val3582Ile)
|
rs139798654
|
0.00257
|
NM_006031.6(PCNT):c.3748C>T (p.Arg1250Trp)
|
rs117987006
|
0.00257
|
NM_006662.3(SRCAP):c.8865C>G (p.Ser2955=)
|
rs149043190
|
0.00256
|
NM_014000.3(VCL):c.2025G>A (p.Val675=)
|
rs140766884
|
0.00256
|
NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr)
|
rs202233363
|
0.00255
|
NM_005592.4(MUSK):c.1931T>C (p.Val644Ala)
|
rs41279055
|
0.00255
|
NM_170699.3(GPBAR1):c.458C>T (p.Ala153Val)
|
rs138439621
|
0.00255
|
NM_172364.5(CACNA2D4):c.2239A>G (p.Met747Val)
|
rs34007338
|
0.00255
|
NM_000018.4(ACADVL):c.1839G>A (p.Arg613=)
|
rs79125791
|
0.00254
|
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=)
|
rs138498780
|
0.00254
|
NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr)
|
rs114015043
|
0.00254
|
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=)
|
rs41310953
|
0.00253
|
NM_000334.4(SCN4A):c.2748C>G (p.Asn916Lys)
|
rs115379510
|
0.00253
|
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly)
|
rs72648273
|
0.00253
|
NM_001031679.3(MSRB3):c.486G>A (p.Ala162=)
|
rs35393316
|
0.00252
|
NM_002206.3(ITGA7):c.3058-6C>T
|
rs201070308
|
0.00252
|
NM_005548.3(KARS1):c.1674C>T (p.Leu558=)
|
rs143267922
|
0.00252
|
NM_025074.7(FRAS1):c.2861C>T (p.Thr954Met)
|
rs17003166
|
0.00252
|
NM_000035.4(ALDOB):c.799+6G>A
|
rs141888548
|
0.00251
|
NM_001854.4(COL11A1):c.4185C>T (p.Val1395=)
|
rs112577505
|
0.00251
|
NM_198239.2(CCN6):c.310G>C (p.Val104Leu)
|
rs78266262
|
0.00251
|
NM_002335.4(LRP5):c.4278T>C (p.Tyr1426=)
|
rs142328132
|
0.00250
|
NM_006371.5(CRTAP):c.1039C>T (p.Leu347Phe)
|
rs115198029
|
0.00250
|
NM_182914.3(SYNE2):c.2560C>G (p.Gln854Glu)
|
rs34449017
|
0.00250
|
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser)
|
rs72552027
|
0.00249
|
NM_001369.3(DNAH5):c.12346A>G (p.Ile4116Val)
|
rs34920399
|
0.00249
|
NM_004393.6(DAG1):c.1233G>A (p.Val411=)
|
rs145765079
|
0.00249
|
NM_016356.5(DCDC2):c.855A>G (p.Ser285=)
|
rs141519329
|
0.00249
|
NM_000276.4(OCRL):c.439+3A>G
|
rs61752971
|
0.00248
|
NM_001360.3(DHCR7):c.399C>T (p.Ala133=)
|
rs147424205
|
0.00248
|
NM_001457.4(FLNB):c.4222+8A>G
|
rs190025781
|
0.00248
|
NM_004407.4(DMP1):c.879T>C (p.Ser293=)
|
rs150896376
|
0.00248
|
NM_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp)
|
rs35365413
|
0.00248
|
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn)
|
rs111033369
|
0.00248
|
NM_001098671.2(RASGRP2):c.1466C>G (p.Ser489Cys)
|
rs140514685
|
0.00247
|
NM_001128228.3(TPRN):c.1748A>G (p.Lys583Arg)
|
rs139459217
|
0.00247
|
NM_001457.4(FLNB):c.1559C>T (p.Pro520Leu)
|
rs138220431
|
0.00247
|
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=)
|
rs116302615
|
0.00246
|
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile)
|
rs145525174
|
0.00246
|
NM_002334.4(LRP4):c.5357T>A (p.Met1786Lys)
|
rs61748876
|
0.00246
|
NM_004260.4(RECQL4):c.1390+3G>A
|
rs148912524
|
0.00246
|
NM_019109.4(ALG1):c.191C>A (p.Thr64Asn)
|
rs145474820
|
0.00246
|
NM_000553.6(WRN):c.970A>G (p.Thr324Ala)
|
rs1800390
|
0.00245
|
NM_001170629.2(CHD8):c.262G>A (p.Glu88Lys)
|
rs78640816
|
0.00245
|
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys)
|
rs72648981
|
0.00245
|
NM_001365088.1(SLC12A6):c.3042+8A>G
|
rs186141509
|
0.00245
|
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn)
|
rs34719006
|
0.00245
|
NM_002863.5(PYGL):c.611A>G (p.Tyr204Cys)
|
rs34096980
|
0.00245
|
NM_014009.4(FOXP3):c.324G>A (p.Thr108=)
|
rs111856931
|
0.00245
|
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val)
|
rs140067659
|
0.00245
|
NM_017950.4(CCDC40):c.334A>G (p.Thr112Ala)
|
rs201709592
|
0.00245
|
NM_020964.3(EPG5):c.2998A>G (p.Met1000Val)
|
rs144334723
|
0.00245
|
NM_206933.4(USH2A):c.13404A>G (p.Arg4468=)
|
rs146994147
|
0.00245
|
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val)
|
rs35550482
|
0.00244
|
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser)
|
rs146197239
|
0.00244
|
NM_000350.3(ABCA4):c.1653G>A (p.Val551=)
|
rs61753963
|
0.00243
|
NM_001005361.3(DNM2):c.190G>A (p.Val64Ile)
|
rs144250390
|
0.00243
|
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln)
|
rs199895260
|
0.00243
|
NM_005529.7(HSPG2):c.10677C>T (p.Asn3559=)
|
rs138049720
|
0.00243
|
NM_006214.4(PHYH):c.717C>T (p.Tyr239=)
|
rs142720126
|
0.00243
|
NM_002292.4(LAMB2):c.109C>G (p.Pro37Ala)
|
rs144765752
|
0.00242
|
NM_004403.3(GSDME):c.521T>C (p.Met174Thr)
|
rs876306
|
0.00242
|
NM_004715.5(CTDP1):c.2322C>T (p.Tyr774=)
|
rs35234657
|
0.00242
|
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu)
|
rs137852776
|
0.00242
|
NM_001004334.4(GPR179):c.4709C>T (p.Thr1570Met)
|
rs187512697
|
0.00241
|
NM_004560.4(ROR2):c.372C>T (p.Asp124=)
|
rs145568368
|
0.00241
|
NM_016239.4(MYO15A):c.3774C>T (p.Ile1258=)
|
rs148723625
|
0.00241
|
NM_002979.5(SCP2):c.687T>C (p.Asp229=)
|
rs80033039
|
0.00240
|
NM_133379.5(TTN):c.13948C>T (p.Pro4650Ser)
|
rs149748934
|
0.00240
|
NM_206933.4(USH2A):c.478G>A (p.Gly160Ser)
|
rs111033479
|
0.00240
|
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu)
|
rs41265127
|
0.00239
|
NM_004281.4(BAG3):c.463G>A (p.Ala155Thr)
|
rs61756328
|
0.00239
|
NM_004715.5(CTDP1):c.2581-5G>T
|
rs199505565
|
0.00239
|
NM_018344.6(SLC29A3):c.1146C>T (p.Phe382=)
|
rs148092033
|
0.00239
|
NM_000240.4(MAOA):c.825G>A (p.Pro275=)
|
rs138703731
|
0.00238
|
NM_000426.4(LAMA2):c.6429+8C>A
|
rs199773264
|
0.00238
|
NM_182943.3(PLOD2):c.1644C>T (p.Asn548=)
|
rs150609339
|
0.00238
|
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu)
|
rs117843968
|
0.00237
|
NM_001110219.3(GJB6):c.476A>G (p.Asn159Ser)
|
rs35277762
|
0.00237
|
NM_014140.4(SMARCAL1):c.1995C>T (p.Ala665=)
|
rs151241914
|
0.00237
|
NM_194248.3(OTOF):c.245G>A (p.Arg82His)
|
rs149766574
|
0.00237
|
NM_001134831.2(AHI1):c.3546G>A (p.Met1182Ile)
|
rs184236039
|
0.00236
|
NM_001377.3(DYNC2H1):c.9814T>A (p.Leu3272Ile)
|
rs200342335
|
0.00236
|
NM_001386140.1(MTTP):c.2673C>T (p.Ser891=)
|
rs115222767
|
0.00236
|
NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=)
|
rs41287108
|
0.00236
|
NM_004239.4(TRIP11):c.3604A>C (p.Asn1202His)
|
rs41301481
|
0.00236
|
NM_006269.2(RP1):c.3132A>C (p.Lys1044Asn)
|
rs35234349
|
0.00236
|
NM_006383.4(CIB2):c.462G>A (p.Glu154=)
|
rs117153558
|
0.00236
|
NM_014363.6(SACS):c.10611A>G (p.Ala3537=)
|
rs137856939
|
0.00236
|
NM_032119.4(ADGRV1):c.22+9T>C
|
rs368604803
|
0.00236
|
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys)
|
rs45454496
|
0.00235
|
NM_001378609.3(OTOGL):c.3427A>G (p.Ile1143Val)
|
rs117462138
|
0.00235
|
NM_014141.6(CNTNAP2):c.3305T>C (p.Val1102Ala)
|
rs111599875
|
0.00235
|
NM_014846.4(WASHC5):c.617A>G (p.Asn206Ser)
|
rs150026441
|
0.00235
|
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=)
|
rs186453356
|
0.00235
|
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln)
|
rs201619500
|
0.00235
|
NM_182914.3(SYNE2):c.6880-5C>T
|
rs187173455
|
0.00235
|
NM_203288.2(RP9):c.216A>G (p.Pro72=)
|
rs114747263
|
0.00235
|
NM_000124.4(ERCC6):c.2403C>T (p.Ala801=)
|
rs114896216
|
0.00234
|
NM_000141.5(FGFR2):c.1539C>T (p.Thr513=)
|
rs74160617
|
0.00234
|
NM_004369.4(COL6A3):c.3446G>A (p.Arg1149Gln)
|
rs36062562
|
0.00234
|
NM_019098.5(CNGB3):c.1439G>A (p.Arg480Gln)
|
rs77277189
|
0.00234
|
NM_153676.4(USH1C):c.403G>A (p.Val135Ile)
|
rs145013633
|
0.00234
|
NM_000057.4(BLM):c.4077-10C>T
|
rs145310008
|
0.00233
|
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr)
|
rs72648953
|
0.00233
|
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu)
|
rs117725825
|
0.00233
|
NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln)
|
rs78046647
|
0.00233
|
NM_005957.5(MTHFR):c.236+3A>G
|
rs1413355
|
0.00233
|
NM_007317.3(KIF22):c.1397G>A (p.Arg466Gln)
|
rs145879411
|
0.00233
|
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly)
|
rs149804567
|
0.00233
|
NM_024009.3(GJB3):c.313C>A (p.His105Asn)
|
rs150245955
|
0.00233
|
NM_178452.6(DNAAF1):c.1245C>G (p.Thr415=)
|
rs147804813
|
0.00233
|
NM_001017420.3(ESCO2):c.506G>A (p.Arg169Gln)
|
rs1052492
|
0.00232
|
NM_002471.4(MYH6):c.1275C>T (p.Ile425=)
|
rs61742470
|
0.00232
|
NM_004530.6(MMP2):c.1802G>T (p.Gly601Val)
|
rs142010233
|
0.00232
|
NM_005045.4(RELN):c.4408G>A (p.Val1470Ile)
|
rs143213152
|
0.00232
|
NM_007254.4(PNKP):c.1497G>A (p.Leu499=)
|
rs142199280
|
0.00232
|
NM_012448.4(STAT5B):c.1335A>G (p.Glu445=)
|
rs111880437
|
0.00232
|
NM_014425.5(INVS):c.2803C>T (p.His935Tyr)
|
rs139768159
|
0.00232
|
NM_001853.4(COL9A3):c.755G>A (p.Arg252Gln)
|
rs139573483
|
0.00231
|
NM_005045.4(RELN):c.7438G>A (p.Gly2480Ser)
|
rs150236371
|
0.00231
|
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)
|
rs139235751
|
0.00230
|
NM_001177316.2(SLC34A3):c.1610G>A (p.Arg537His)
|
rs146757110
|
0.00230
|
NM_025074.7(FRAS1):c.9553G>A (p.Gly3185Arg)
|
rs202095663
|
0.00230
|
NM_144596.4(TTC8):c.299A>G (p.Asn100Ser)
|
rs139392523
|
0.00230
|
NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn)
|
rs144177566
|
0.00229
|
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys)
|
rs72677231
|
0.00229
|
NM_001292063.2(OTOG):c.6074C>T (p.Ala2025Val)
|
rs61736002
|
0.00229
|
NM_001849.4(COL6A2):c.1161C>T (p.Ile387=)
|
rs140027285
|
0.00229
|
NM_018344.6(SLC29A3):c.128T>G (p.Leu43Arg)
|
rs146764905
|
0.00229
|
NM_033109.5(PNPT1):c.122G>C (p.Ser41Thr)
|
rs140796438
|
0.00229
|
NM_001079802.2(FKTN):c.1297A>G (p.Thr433Ala)
|
rs141918432
|
0.00228
|
NM_001267550.2(TTN):c.70815G>A (p.Val23605=)
|
rs55847238
|
0.00228
|
NM_001370658.1(BTD):c.1002G>A (p.Thr334=)
|
rs148764524
|
0.00228
|
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=)
|
rs1801250
|
0.00228
|
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His)
|
rs35586704
|
0.00228
|
NM_001037.5(SCN1B):c.448+193G>A
|
rs66876876
|
0.00227
|
NM_001256789.3(CACNA1F):c.5700T>C (p.Phe1900=)
|
rs143269092
|
0.00227
|
NM_004393.6(DAG1):c.2036G>A (p.Arg679His)
|
rs113904914
|
0.00227
|
NM_001164508.2(NEB):c.6615C>G (p.Arg2205=)
|
rs200018782
|
0.00226
|
NM_001277313.2(FMN1):c.2044-2701C>A
|
rs111822533
|
0.00226
|
NM_201384.3(PLEC):c.12642C>T (p.Ile4214=)
|
rs111227648
|
0.00226
|
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val)
|
rs116355217
|
0.00225
|
NM_017534.6(MYH2):c.3181C>G (p.Leu1061Val)
|
rs142586585
|
0.00225
|
NM_031471.6(FERMT3):c.159C>G (p.Ile53Met)
|
rs142815441
|
0.00225
|
NM_182914.3(SYNE2):c.16095-10G>A
|
rs139126909
|
0.00225
|
NM_001289.6(CLIC2):c.478C>G (p.Pro160Ala)
|
rs41304992
|
0.00224
|
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu)
|
rs114137983
|
0.00224
|
NM_000466.3(PEX1):c.934A>G (p.Ile312Val)
|
rs146312634
|
0.00223
|
NM_001083961.2(WDR62):c.*84T>A
|
rs112916239
|
0.00223
|
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser)
|
rs72648925
|
0.00223
|
NM_001267550.2(TTN):c.76722T>C (p.Tyr25574=)
|
rs55696153
|
0.00223
|
NM_002206.3(ITGA7):c.882G>A (p.Val294=)
|
rs148190047
|
0.00223
|
NM_005670.4(EPM2A):c.393G>A (p.Glu131=)
|
rs61758155
|
0.00223
|
NM_013236.4(ATXN10):c.321G>A (p.Thr107=)
|
rs61733598
|
0.00223
|
NM_014918.5(CHSY1):c.2088G>A (p.Thr696=)
|
rs150245745
|
0.00223
|
NM_020320.5(RARS2):c.1410C>A (p.Leu470=)
|
rs139564081
|
0.00223
|
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)
|
rs147222255
|
0.00223
|
NM_000618.5(IGF1):c.156G>A (p.Thr52=)
|
rs3729846
|
0.00222
|
NM_004621.6(TRPC6):c.1818T>C (p.Ser606=)
|
rs139187399
|
0.00222
|
NM_004984.4(KIF5A):c.1293+9G>A
|
rs201749114
|
0.00222
|
NM_005219.5(DIAPH1):c.1407T>C (p.Ile469=)
|
rs75860159
|
0.00222
|
NM_022464.5(SIL1):c.1351G>A (p.Gly451Ser)
|
rs34214251
|
0.00222
|
NM_001851.6(COL9A1):c.1089+9C>G
|
rs142247988
|
0.00221
|
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg)
|
rs41278630
|
0.00221
|
NM_032119.4(ADGRV1):c.463A>G (p.Ile155Val)
|
rs199873924
|
0.00221
|
NM_000257.4(MYH7):c.297C>T (p.Pro99=)
|
rs140245862
|
0.00220
|
NM_001033855.3(DCLRE1C):c.1284A>C (p.Lys428Asn)
|
rs113870881
|
0.00220
|
NM_001303.4(COX10):c.929-7C>T
|
rs62052075
|
0.00220
|
NM_004369.4(COL6A3):c.1688A>G (p.Asp563Gly)
|
rs112913396
|
0.00220
|
NM_147127.5(EVC2):c.2151C>T (p.His717=)
|
rs144584049
|
0.00220
|
NM_152618.3(BBS12):c.212A>G (p.Asn71Ser)
|
rs143960329
|
0.00220
|
NM_001004334.4(GPR179):c.5019C>G (p.Thr1673=)
|
rs182907807
|
0.00219
|
NM_020686.6(ABAT):c.641T>C (p.Met214Thr)
|
rs149271402
|
0.00219
|
NM_000465.4(BARD1):c.620A>G (p.Lys207Arg)
|
rs34969857
|
0.00218
|
NM_001079802.2(FKTN):c.167G>A (p.Arg56His)
|
rs146951171
|
0.00218
|
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser)
|
rs140666848
|
0.00218
|
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn)
|
rs10979599
|
0.00218
|
NM_017433.5(MYO3A):c.1559C>T (p.Ala520Val)
|
rs72787346
|
0.00218
|
NM_018418.5(SPATA7):c.815G>A (p.Arg272Gln)
|
rs34682727
|
0.00218
|
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=)
|
rs45554236
|
0.00217
|
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)
|
rs144942544
|
0.00217
|
NM_001080.3(ALDH5A1):c.480C>T (p.Ser160=)
|
rs143486700
|
0.00217
|
NM_005592.4(MUSK):c.2202C>T (p.Gly734=)
|
rs143701488
|
0.00217
|
NM_006204.4(PDE6C):c.1104A>G (p.Glu368=)
|
rs145836229
|
0.00217
|
NM_012301.4(MAGI2):c.900A>G (p.Glu300=)
|
rs111635934
|
0.00217
|
NM_018136.5(ASPM):c.1717C>T (p.Arg573Trp)
|
rs144049904
|
0.00217
|
NM_182961.4(SYNE1):c.8230C>A (p.Gln2744Lys)
|
rs145195048
|
0.00217
|
NM_201525.4(ADGRG1):c.174C>T (p.Ile58=)
|
rs140963173
|
0.00217
|
NM_000152.5(GAA):c.2647-8C>T
|
rs139201641
|
0.00216
|
NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu)
|
rs201060500
|
0.00216
|
NM_001199397.3(NEK1):c.782G>A (p.Arg261His)
|
rs200161705
|
0.00216
|
NM_001256789.3(CACNA1F):c.3651C>T (p.Val1217=)
|
rs150205903
|
0.00216
|
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met)
|
rs7196804
|
0.00216
|
NM_005732.4(RAD50):c.2670G>A (p.Gln890=)
|
rs112241748
|
0.00216
|
NM_016156.6(MTMR2):c.1488C>T (p.Thr496=)
|
rs112327353
|
0.00216
|
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)
|
rs34596189
|
0.00216
|
NM_000451.4(SHOX):c.864G>A (p.Glu288=)
|
rs781656634
|
0.00215
|
NM_001083961.2(WDR62):c.4312-5T>G
|
rs182467995
|
0.00215
|
NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val)
|
rs181295720
|
0.00215
|
NM_014140.4(SMARCAL1):c.1271A>T (p.Asp424Val)
|
rs2066520
|
0.00215
|
NM_020822.3(KCNT1):c.2235C>T (p.Ser745=)
|
rs146810749
|
0.00215
|
NM_004369.4(COL6A3):c.4217C>T (p.Thr1406Met)
|
rs114061998
|
0.00214
|
NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp)
|
rs77021998
|
0.00214
|
NM_000057.4(BLM):c.254G>C (p.Arg85Thr)
|
rs141503266
|
0.00213
|
NM_001017975.6(HFM1):c.3884-4A>T
|
rs78667053
|
0.00213
|
NM_001029883.3(PCARE):c.2348T>C (p.Ile783Thr)
|
rs141559332
|
0.00213
|
NM_001378452.1(ITPR1):c.5621T>G (p.Val1874Gly)
|
rs143093165
|
0.00213
|
NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro)
|
rs41268014
|
0.00213
|
NM_000094.4(COL7A1):c.5910C>T (p.Phe1970=)
|
rs141290741
|
0.00212
|
NM_001384474.1(LOXHD1):c.4822G>A (p.Val1608Ile)
|
rs140042576
|
0.00212
|
NM_005045.4(RELN):c.1442-8T>C
|
rs181761096
|
0.00212
|
NM_006261.5(PROP1):c.630A>C (p.Pro210=)
|
rs535993919
|
0.00212
|
NM_080680.3(COL11A2):c.4041G>A (p.Pro1347=)
|
rs139283268
|
0.00212
|
NM_147127.5(EVC2):c.463T>C (p.Ser155Pro)
|
rs143388379
|
0.00212
|
NM_170699.3(GPBAR1):c.649G>C (p.Ala217Pro)
|
rs149245876
|
0.00212
|
NM_000182.5(HADHA):c.-1G>T
|
rs72809666
|
0.00211
|
NM_002334.4(LRP4):c.1787A>G (p.His596Arg)
|
rs138878258
|
0.00211
|
NM_004465.2(FGF10):c.97G>A (p.Val33Ile)
|
rs145373611
|
0.00211
|
NM_133379.5(TTN):c.11849T>C (p.Ile3950Thr)
|
rs72647897
|
0.00211
|
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser)
|
rs142021049
|
0.00211
|
NM_000336.3(SCNN1B):c.1731C>T (p.Thr577=)
|
rs61759923
|
0.00210
|
NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn)
|
rs116134953
|
0.00210
|
NM_005413.4(SIX3):c.109G>T (p.Gly37Cys)
|
rs199823175
|
0.00210
|
NM_006949.4(STXBP2):c.1538+10C>T
|
rs139200597
|
0.00210
|
NM_018100.4(EFHC1):c.1155C>T (p.Asn385=)
|
rs115913738
|
0.00210
|
NM_020549.5(CHAT):c.438C>T (p.Tyr146=)
|
rs61731734
|
0.00210
|
NM_170707.4(LMNA):c.1761G>A (p.Leu587=)
|
rs80356813
|
0.00210
|
NM_198239.2(CCN6):c.77C>T (p.Pro26Leu)
|
rs149609367
|
0.00210
|
NM_000334.4(SCN4A):c.1453-4A>G
|
rs111818485
|
0.00209
|
NM_000391.4(TPP1):c.293C>T (p.Thr98Met)
|
rs140726254
|
0.00209
|
NM_001351132.2(PEX5):c.604G>C (p.Val202Leu)
|
rs149102738
|
0.00209
|
NM_001384140.1(PCDH15):c.343G>A (p.Val115Met)
|
rs143570915
|
0.00209
|
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp)
|
rs4986845
|
0.00209
|
NM_153717.3(EVC):c.1636A>G (p.Met546Val)
|
rs112608085
|
0.00209
|
NM_000431.4(MVK):c.381G>A (p.Pro127=)
|
rs140397628
|
0.00208
|
NM_000455.5(STK11):c.464+9G>A
|
rs376313955
|
0.00208
|
NM_001267550.2(TTN):c.73168A>G (p.Thr24390Ala)
|
rs182491843
|
0.00208
|
NM_001384140.1(PCDH15):c.4671+1109C>T
|
rs145418788
|
0.00208
|
NM_002335.4(LRP5):c.3256A>G (p.Met1086Val)
|
rs145774832
|
0.00208
|
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys)
|
rs143184877
|
0.00208
|
NM_004456.5(EZH2):c.1852-6C>T
|
rs78589034
|
0.00208
|
NM_005592.4(MUSK):c.666T>C (p.Asn222=)
|
rs56044404
|
0.00208
|
NM_000168.6(GLI3):c.3664C>T (p.Pro1222Ser)
|
rs118149040
|
0.00207
|
NM_001379286.1(ZNF423):c.2013G>A (p.Ala671=)
|
rs143468235
|
0.00207
|
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln)
|
rs61889560
|
0.00207
|
NM_182914.3(SYNE2):c.5395T>C (p.Leu1799=)
|
rs186427714
|
0.00207
|
NM_000260.4(MYO7A):c.3086A>G (p.His1029Arg)
|
rs60103800
|
0.00206
|
NM_000426.4(LAMA2):c.411G>A (p.Ala137=)
|
rs149347601
|
0.00206
|
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile)
|
rs72650019
|
0.00206
|
NM_001267550.2(TTN):c.87707-4G>T
|
rs201770959
|
0.00206
|
NM_002857.4(PEX19):c.261C>T (p.Phe87=)
|
rs146644725
|
0.00206
|
NM_012301.4(MAGI2):c.3911G>A (p.Gly1304Asp)
|
rs145648453
|
0.00206
|
NM_015474.4(SAMHD1):c.237T>C (p.Pro79=)
|
rs7271776
|
0.00206
|
NM_020436.5(SALL4):c.2483C>T (p.Thr828Met)
|
rs147158259
|
0.00206
|
NM_022124.6(CDH23):c.5871C>G (p.Pro1957=)
|
rs368122233
|
0.00206
|
NM_052989.3(IFT122):c.3129C>T (p.Arg1043=)
|
rs76881473
|
0.00206
|
NM_000346.4(SOX9):c.685+8G>A
|
rs117696751
|
0.00205
|
NM_001267550.2(TTN):c.9077A>T (p.Asn3026Ile)
|
rs11900987
|
0.00205
|
NM_001277313.2(FMN1):c.3001C>T (p.Pro1001Ser)
|
rs199592529
|
0.00205
|
NM_004366.6(CLCN2):c.218G>A (p.Arg73His)
|
rs144412275
|
0.00205
|
NM_023036.6(DNAI2):c.1408G>A (p.Gly470Ser)
|
rs115299472
|
0.00205
|
NM_032119.4(ADGRV1):c.11568T>C (p.Val3856=)
|
rs143004930
|
0.00205
|
NM_182961.4(SYNE1):c.3120T>A (p.Thr1040=)
|
rs147176678
|
0.00205
|
NM_000071.3(CBS):c.939G>A (p.Thr313=)
|
rs2228298
|
0.00204
|
NM_001126121.2(SLC25A19):c.797T>G (p.Met266Arg)
|
rs148372053
|
0.00204
|
NM_001191061.2(SLC25A22):c.169G>A (p.Val57Ile)
|
rs150242281
|
0.00204
|
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr)
|
rs55837610
|
0.00204
|
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln)
|
rs115346085
|
0.00204
|
NM_001008216.2(GALE):c.879G>A (p.Pro293=)
|
rs142332521
|
0.00203
|
NM_001035.3(RYR2):c.10324-4A>G
|
rs72751287
|
0.00203
|
NM_001039141.3(TRIOBP):c.5588C>T (p.Ala1863Val)
|
rs140528529
|
0.00203
|
NM_001267550.2(TTN):c.91937A>G (p.Asn30646Ser)
|
rs72648245
|
0.00203
|
NM_001457.4(FLNB):c.1472T>C (p.Met491Thr)
|
rs147575358
|
0.00203
|
NM_002900.3(RBP3):c.843C>T (p.Pro281=)
|
rs35186791
|
0.00203
|
NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser)
|
rs145277501
|
0.00203
|
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser)
|
rs75698489
|
0.00203
|
NM_000540.3(RYR1):c.2677G>A (p.Gly893Ser)
|
rs147336515
|
0.00202
|
NM_000548.5(TSC2):c.1281C>A (p.Ile427=)
|
rs45478892
|
0.00202
|
NM_001849.4(COL6A2):c.1140C>T (p.Arg380=)
|
rs144482400
|
0.00202
|
NM_004239.4(TRIP11):c.4413A>C (p.Thr1471=)
|
rs144780536
|
0.00202
|
NM_006005.3(WFS1):c.1554G>A (p.Met518Ile)
|
rs138232538
|
0.00202
|
NM_015910.7(WDPCP):c.385C>G (p.Leu129Val)
|
rs191796211
|
0.00202
|
NM_032119.4(ADGRV1):c.14943G>C (p.Gln4981His)
|
rs200153555
|
0.00202
|
NM_033118.4(MYLK2):c.284C>A (p.Ala95Glu)
|
rs121908108
|
0.00202
|
NM_000452.3(SLC10A2):c.516C>T (p.Leu172=)
|
rs114146899
|
0.00201
|
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg)
|
rs200662010
|
0.00201
|
NM_001267550.2(TTN):c.46693G>T (p.Ala15565Ser)
|
rs145520397
|
0.00201
|
NM_000051.4(ATM):c.162T>C (p.Tyr54=)
|
rs3218690
|
0.00200
|
NM_001267550.2(TTN):c.69412+10G>C
|
rs72646883
|
0.00200
|
NM_001292063.2(OTOG):c.7650C>T (p.Ile2550=)
|
rs187445787
|
0.00200
|
NM_001384732.1(CPLANE1):c.8779A>G (p.Met2927Val)
|
rs143626904
|
0.00200
|
NM_001999.4(FBN2):c.738G>A (p.Ala246=)
|
rs150087436
|
0.00200
|
NM_014989.7(RIMS1):c.1230C>G (p.Gly410=)
|
rs544554763
|
0.00200
|
NM_020686.6(ABAT):c.30G>A (p.Leu10=)
|
rs34813662
|
0.00200
|
NM_133379.5(TTN):c.13347A>G (p.Ile4449Met)
|
rs144539321
|
0.00200
|
NM_203486.3(DLL3):c.390G>A (p.Glu130=)
|
rs113780398
|
0.00200
|
NM_000082.4(ERCC8):c.839C>A (p.Thr280Lys)
|
rs61754098
|
0.00199
|
NM_001849.4(COL6A2):c.81G>A (p.Ser27=)
|
rs111639540
|
0.00199
|
NM_020779.4(WDR35):c.3121+3G>A
|
rs200042577
|
0.00199
|
NM_170699.3(GPBAR1):c.636C>T (p.Ser212=)
|
rs150118963
|
0.00199
|
NM_182914.3(SYNE2):c.18039-5T>A
|
rs189611387
|
0.00199
|
NM_000168.6(GLI3):c.840C>G (p.Ser280=)
|
rs77084911
|
0.00198
|
NM_000326.5(RLBP1):c.817C>T (p.Leu273Phe)
|
rs140570189
|
0.00198
|
NM_002473.6(MYH9):c.5143G>A (p.Gly1715Ser)
|
rs148109368
|
0.00198
|
NM_022436.3(ABCG5):c.1284C>T (p.Gly428=)
|
rs143972075
|
0.00198
|
NM_133379.5(TTN):c.10648C>T (p.Arg3550Trp)
|
rs141407971
|
0.00198
|
NM_006005.3(WFS1):c.227G>T (p.Gly76Val)
|
rs200135768
|
0.00197
|
NM_007317.3(KIF22):c.1780G>A (p.Asp594Asn)
|
rs146561986
|
0.00197
|
NM_014780.5(CUL7):c.4914C>T (p.Asp1638=)
|
rs61731584
|
0.00197
|
NM_001127255.2(NLRP7):c.2094C>T (p.His698=)
|
rs104895524
|
0.00196
|
NM_001330677.2(TBX15):c.837A>G (p.Thr279=)
|
rs140670116
|
0.00196
|
NM_014639.4(SKIC3):c.2578-10T>C
|
rs140254019
|
0.00196
|
NM_014714.4(IFT140):c.1336A>G (p.Ile446Val)
|
rs139619013
|
0.00196
|
NM_022455.5(NSD1):c.2295C>T (p.Asn765=)
|
rs146767413
|
0.00196
|
NM_025114.4(CEP290):c.5255G>A (p.Arg1752Gln)
|
rs116469117
|
0.00196
|
NM_201525.4(ADGRG1):c.1017+8G>A
|
rs186479054
|
0.00196
|
NM_212550.5(BLOC1S3):c.478G>T (p.Val160Leu)
|
rs201502372
|
0.00196
|
NM_001042472.3(ABHD12):c.1141C>T (p.Leu381=)
|
rs142709197
|
0.00195
|
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro)
|
rs72646873
|
0.00195
|
NM_002335.4(LRP5):c.4089C>T (p.Asp1363=)
|
rs3736229
|
0.00195
|
NM_005529.7(HSPG2):c.4627-3del
|
rs368983547
|
0.00195
|
NM_006031.6(PCNT):c.9700+10C>T
|
rs199917135
|
0.00195
|
NM_012418.4(FSCN2):c.1092C>T (p.Ile364=)
|
rs188142101
|
0.00195
|
NM_014008.5(CCDC22):c.715G>A (p.Glu239Lys)
|
rs199809018
|
0.00195
|
NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=)
|
rs61742381
|
0.00195
|
NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr)
|
rs145556097
|
0.00195
|
NM_032119.4(ADGRV1):c.3191A>C (p.Glu1064Ala)
|
rs190922596
|
0.00195
|
NM_182961.4(SYNE1):c.19508A>G (p.Asn6503Ser)
|
rs144762960
|
0.00195
|
NM_000093.5(COL5A1):c.1158C>T (p.Ser386=)
|
rs61729497
|
0.00194
|
NM_000391.4(TPP1):c.688-7T>A
|
rs375262484
|
0.00194
|
NM_001048166.1(STIL):c.1069G>A (p.Ala357Thr)
|
rs75426387
|
0.00194
|
NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile)
|
rs144930507
|
0.00194
|
NM_001845.6(COL4A1):c.4056C>T (p.Tyr1352=)
|
rs140210015
|
0.00194
|
NM_002693.3(POLG):c.1174C>G (p.Leu392Val)
|
rs145289229
|
0.00194
|
NM_016356.5(DCDC2):c.1208G>A (p.Arg403His)
|
rs139858268
|
0.00194
|
NM_024422.6(DSC2):c.2616C>T (p.Cys872=)
|
rs61731920
|
0.00194
|
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=)
|
rs75091137
|
0.00194
|
NM_000152.5(GAA):c.676C>G (p.Leu226Val)
|
rs113085339
|
0.00193
|
NM_000368.5(TSC1):c.2865C>T (p.Thr955=)
|
rs45468995
|
0.00193
|
NM_000553.6(WRN):c.2983G>A (p.Ala995Thr)
|
rs140768346
|
0.00193
|
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe)
|
rs139912214
|
0.00193
|
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln)
|
rs72648969
|
0.00193
|
NM_001377.3(DYNC2H1):c.7128A>G (p.Ala2376=)
|
rs371410128
|
0.00193
|
NM_006261.5(PROP1):c.425C>T (p.Ala142Val)
|
rs143790367
|
0.00193
|
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu)
|
rs41311117
|
0.00192
|
NM_000543.5(SMPD1):c.1534G>A (p.Val512Met)
|
rs140806787
|
0.00192
|
NM_001029883.3(PCARE):c.2600C>T (p.Pro867Leu)
|
rs182248363
|
0.00192
|
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val)
|
rs147641443
|
0.00192
|
NM_001211.6(BUB1B):c.10G>A (p.Val4Met)
|
rs147549987
|
0.00192
|
NM_032119.4(ADGRV1):c.12527+6G>T
|
rs141701016
|
0.00192
|
NM_000193.4(SHH):c.869G>A (p.Gly290Asp)
|
rs104894047
|
0.00191
|
NM_001330078.2(NRXN1):c.4473G>A (p.Ala1491=)
|
rs113380721
|
0.00191
|
NM_005670.4(EPM2A):c.719-4G>A
|
rs145030227
|
0.00191
|
NM_024596.5(MCPH1):c.182A>G (p.Asp61Gly)
|
rs61749465
|
0.00191
|
NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser)
|
rs148939995
|
0.00191
|
NM_182961.4(SYNE1):c.4596C>T (p.Tyr1532=)
|
rs138264334
|
0.00191
|
NM_000384.3(APOB):c.751G>A (p.Ala251Thr)
|
rs61741625
|
0.00190
|
NM_080605.4(B3GALT6):c.909G>A (p.Glu303=)
|
rs368507303
|
0.00190
|
NM_198859.4(PRICKLE2):c.444C>T (p.Arg148=)
|
rs146538069
|
0.00190
|
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)
|
rs41303255
|
0.00190
|
NM_000287.4(PEX6):c.882+15_882+16del
|
rs555409430
|
0.00189
|
NM_000381.4(MID1):c.588C>G (p.Ala196=)
|
rs41303167
|
0.00189
|
NM_001267550.2(TTN):c.5823A>G (p.Arg1941=)
|
rs149668487
|
0.00189
|
NM_001267550.2(TTN):c.66977A>G (p.Lys22326Arg)
|
rs202125813
|
0.00189
|
NM_001374385.1(ATP8B1):c.*10C>T
|
rs147298165
|
0.00189
|
NM_005609.4(PYGM):c.330C>T (p.Asp110=)
|
rs114742918
|
0.00189
|
NM_022436.3(ABCG5):c.1567A>G (p.Ile523Val)
|
rs140899003
|
0.00189
|
NM_032119.4(ADGRV1):c.11201T>C (p.Val3734Ala)
|
rs113498662
|
0.00189
|
NM_032578.4(MYPN):c.1563C>T (p.Tyr521=)
|
rs77249928
|
0.00189
|
NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=)
|
rs150378053
|
0.00188
|
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser)
|
rs191692293
|
0.00188
|
NM_001377.3(DYNC2H1):c.10314A>G (p.Glu3438=)
|
rs369838929
|
0.00188
|
NM_002485.5(NBN):c.283G>A (p.Asp95Asn)
|
rs61753720
|
0.00188
|
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln)
|
rs140621959
|
0.00188
|
NM_005529.7(HSPG2):c.8044C>T (p.Arg2682Trp)
|
rs142458572
|
0.00188
|
NM_014920.5(CILK1):c.1419T>C (p.Tyr473=)
|
rs34168889
|
0.00188
|
NM_031471.6(FERMT3):c.1404C>T (p.Ala468=)
|
rs201501349
|
0.00188
|
NM_145691.4(ATPAF2):c.699C>T (p.Ala233=)
|
rs143705642
|
0.00188
|
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala)
|
rs140191346
|
0.00188
|
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys)
|
rs141859946
|
0.00188
|
NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile)
|
rs149881695
|
0.00187
|
NM_001267550.2(TTN):c.85691A>T (p.Lys28564Ile)
|
rs199859344
|
0.00187
|
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)
|
rs183655276
|
0.00187
|
NM_032119.4(ADGRV1):c.7874G>A (p.Arg2625His)
|
rs201214794
|
0.00187
|
NM_000051.4(ATM):c.1229T>C (p.Val410Ala)
|
rs56128736
|
0.00186
|
NM_000329.3(RPE65):c.978G>T (p.Val326=)
|
rs61752907
|
0.00186
|
NM_000540.3(RYR1):c.297G>A (p.Thr99=)
|
rs144241486
|
0.00186
|
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe)
|
rs141798874
|
0.00185
|
NM_001267550.2(TTN):c.81539T>C (p.Ile27180Thr)
|
rs182126530
|
0.00185
|
NM_001369.3(DNAH5):c.10294G>T (p.Val3432Leu)
|
rs143251588
|
0.00185
|
NM_001369.3(DNAH5):c.10323G>A (p.Met3441Ile)
|
rs149133845
|
0.00185
|
NM_001849.4(COL6A2):c.1614C>T (p.Gly538=)
|
rs147194375
|
0.00185
|
NM_005045.4(RELN):c.1377G>A (p.Arg459=)
|
rs73712207
|
0.00185
|
NM_005122.5(NR1I3):c.258C>G (p.Ala86=)
|
rs35205211
|
0.00185
|
NM_005413.4(SIX3):c.720G>T (p.Ala240=)
|
rs191012035
|
0.00185
|
NM_001089.3(ABCA3):c.954C>T (p.Ile318=)
|
rs35161127
|
0.00184
|
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser)
|
rs72648247
|
0.00184
|
NM_001371596.2(MFSD8):c.590G>A (p.Gly197Asp)
|
rs28544073
|
0.00184
|
NM_001457.4(FLNB):c.6231C>T (p.Asp2077=)
|
rs145280904
|
0.00184
|
NM_052989.3(IFT122):c.617T>C (p.Ile206Thr)
|
rs59912693
|
0.00184
|
NM_000208.4(INSR):c.1080C>T (p.Cys360=)
|
rs56066516
|
0.00183
|
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys)
|
rs111033255
|
0.00183
|
NM_006306.4(SMC1A):c.1323C>T (p.Tyr441=)
|
rs144850468
|
0.00183
|
NM_012210.4(TRIM32):c.558G>C (p.Gln186His)
|
rs117599771
|
0.00183
|
NM_020366.4(RPGRIP1):c.2376G>A (p.Ser792=)
|
rs185667326
|
0.00183
|
NM_030662.4(MAP2K2):c.580+6G>A
|
rs201435249
|
0.00183
|
NM_213599.3(ANO5):c.1095A>G (p.Leu365=)
|
rs35804601
|
0.00183
|
NM_000093.5(COL5A1):c.4230+5C>T
|
rs142248898
|
0.00182
|
NM_002181.4(IHH):c.873G>A (p.Arg291=)
|
rs149554120
|
0.00182
|
NM_003073.5(SMARCB1):c.1131T>C (p.Arg377=)
|
rs144863210
|
0.00182
|
NM_006031.6(PCNT):c.5614G>A (p.Glu1872Lys)
|
rs112853262
|
0.00182
|
NM_080680.3(COL11A2):c.4521G>A (p.Gln1507=)
|
rs114580597
|
0.00182
|
NM_000260.4(MYO7A):c.6214G>A (p.Val2072Ile)
|
rs200313391
|
0.00181
|
NM_001077365.2(POMT1):c.1932C>T (p.Tyr644=)
|
rs146512619
|
0.00181
|
NM_001081.4(CUBN):c.1681G>A (p.Asp561Asn)
|
rs147449194
|
0.00181
|
NM_001128178.3(NPHP1):c.1270-4C>T
|
rs151204566
|
0.00181
|
NM_002618.4(PEX13):c.355G>A (p.Val119Ile)
|
rs147707348
|
0.00181
|
NM_003659.4(AGPS):c.1233+5A>G
|
rs370777451
|
0.00181
|
NM_004839.4(HOMER2):c.363C>T (p.Ile121=)
|
rs11629943
|
0.00181
|
NM_014846.4(WASHC5):c.2771-7T>C
|
rs142685897
|
0.00181
|
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)
|
rs141093638
|
0.00181
|
NM_020366.4(RPGRIP1):c.2599C>T (p.Arg867Trp)
|
rs186803989
|
0.00181
|
NM_173495.3(PTCHD1):c.657C>T (p.Asn219=)
|
rs144982584
|
0.00181
|
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln)
|
rs145895196
|
0.00180
|
NM_000540.3(RYR1):c.9555-9G>A
|
rs149569999
|
0.00180
|
NM_001130438.3(SPTAN1):c.3720-5T>G
|
rs200543425
|
0.00180
|
NM_001278116.2(L1CAM):c.36C>A (p.Leu12=)
|
rs140678848
|
0.00180
|
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg)
|
rs121908919
|
0.00180
|
NM_001378414.1(HDAC4):c.2163G>A (p.Ser721=)
|
rs61735030
|
0.00180
|
NM_001378414.1(HDAC4):c.222G>A (p.Glu74=)
|
rs145137674
|
0.00180
|
NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu)
|
rs141392048
|
0.00180
|
NM_004817.4(TJP2):c.2691C>T (p.Pro897=)
|
rs149969431
|
0.00180
|
NM_015087.5(SPART):c.361G>T (p.Asp121Tyr)
|
rs146398746
|
0.00180
|
NM_133261.3(GIPC3):c.132G>C (p.Ala44=)
|
rs80060313
|
0.00180
|
NM_182914.3(SYNE2):c.4286T>C (p.Leu1429Pro)
|
rs150573158
|
0.00180
|
NM_182914.3(SYNE2):c.430C>G (p.Leu144Val)
|
rs142000273
|
0.00180
|
NM_198239.2(CCN6):c.533A>T (p.Asn178Ile)
|
rs35374349
|
0.00180
|
NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr)
|
rs72624961
|
0.00179
|
NM_001127649.3(PEX26):c.409G>C (p.Val137Leu)
|
rs142648687
|
0.00179
|
NM_004565.3(PEX14):c.825G>A (p.Ser275=)
|
rs143412169
|
0.00179
|
NM_006031.6(PCNT):c.9247C>T (p.His3083Tyr)
|
rs143289533
|
0.00179
|
NM_024301.5(FKRP):c.1179A>G (p.Val393=)
|
rs145894568
|
0.00179
|
NM_000287.4(PEX6):c.2436G>A (p.Arg812=)
|
rs61732156
|
0.00178
|
NM_000318.3(PEX2):c.477G>A (p.Gln159=)
|
rs35218706
|
0.00178
|
NM_000441.2(SLC26A4):c.416-7T>C
|
rs111033387
|
0.00178
|
NM_001384474.1(LOXHD1):c.1617G>A (p.Met539Ile)
|
rs143142227
|
0.00178
|
NM_001384474.1(LOXHD1):c.5169C>T (p.Tyr1723=)
|
rs114736976
|
0.00178
|
NM_001393500.2(TOMT):c.298G>C (p.Ala100Pro)
|
rs76657474
|
0.00178
|
NM_004369.4(COL6A3):c.3270C>T (p.Asp1090=)
|
rs113781746
|
0.00178
|
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp)
|
rs148041814
|
0.00178
|
NM_006371.5(CRTAP):c.732C>T (p.Leu244=)
|
rs149119710
|
0.00178
|
NM_014251.3(SLC25A13):c.1434G>T (p.Gly478=)
|
rs146111714
|
0.00178
|
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)
|
rs77724903
|
0.00178
|
NM_032119.4(ADGRV1):c.8088G>A (p.Leu2696=)
|
rs373069459
|
0.00178
|
NM_138694.4(PKHD1):c.5100C>T (p.Thr1700=)
|
rs143717242
|
0.00178
|
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln)
|
rs149318176
|
0.00178
|
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys)
|
rs149146258
|
0.00178
|
NM_000089.4(COL1A2):c.808G>A (p.Val270Ile)
|
rs368468
|
0.00177
|
NM_000443.4(ABCB4):c.456G>A (p.Lys152=)
|
rs147333055
|
0.00177
|
NM_001077418.3(TMEM231):c.-40C>G
|
rs114889548
|
0.00177
|
NM_001453.3(FOXC1):c.1050C>T (p.Leu350=)
|
rs767285866
|
0.00177
|
NM_001701.4(BAAT):c.843T>G (p.Ser281=)
|
rs140793591
|
0.00177
|
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met)
|
rs142433309
|
0.00177
|
NM_018136.5(ASPM):c.5940C>T (p.Tyr1980=)
|
rs150642468
|
0.00177
|
NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu)
|
rs61744480
|
0.00177
|
NM_198576.4(AGRN):c.2805+7G>A
|
rs190000918
|
0.00177
|
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln)
|
rs112185887
|
0.00176
|
NM_000287.4(PEX6):c.685A>G (p.Arg229Gly)
|
rs146571927
|
0.00176
|
NM_001083961.2(WDR62):c.3786C>T (p.Gly1262=)
|
rs148415080
|
0.00176
|
NM_001256789.3(CACNA1F):c.2204A>C (p.Asn735Thr)
|
rs141159097
|
0.00176
|
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val)
|
rs45521933
|
0.00176
|
NM_000155.4(GALT):c.329-24G>A
|
rs114539202
|
0.00175
|
NM_000287.4(PEX6):c.1171G>A (p.Glu391Lys)
|
rs150046979
|
0.00175
|
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=)
|
rs199714102
|
0.00175
|
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=)
|
rs138407720
|
0.00175
|
NM_001793.6(CDH3):c.1436T>C (p.Leu479Pro)
|
rs138190335
|
0.00175
|
NM_002334.4(LRP4):c.1915+6C>T
|
rs184555624
|
0.00175
|
NM_020451.3(SELENON):c.846C>T (p.Ser282=)
|
rs34177164
|
0.00175
|
NM_198239.2(CCN6):c.91C>A (p.Pro31Thr)
|
rs145590972
|
0.00175
|
NM_001353214.3(DYM):c.1717C>T (p.Leu573=)
|
rs145279594
|
0.00174
|
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val)
|
rs180922748
|
0.00174
|
NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val)
|
rs59190330
|
0.00174
|
NM_201384.3(PLEC):c.3171G>A (p.Ser1057=)
|
rs371271326
|
0.00174
|
NM_001365536.1(SCN9A):c.4645T>C (p.Trp1549Arg)
|
rs202084411
|
0.00173
|
NM_001384474.1(LOXHD1):c.3090G>A (p.Thr1030=)
|
rs113994614
|
0.00173
|
NM_002292.4(LAMB2):c.5166A>G (p.Gln1722=)
|
rs114485284
|
0.00173
|
NM_002906.4(RDX):c.1487C>T (p.Ala496Val)
|
rs74983220
|
0.00173
|
NM_012254.3(SLC27A5):c.1229G>A (p.Gly410Glu)
|
rs149709084
|
0.00173
|
NM_020754.4(ARHGAP31):c.349-7T>G
|
rs200397968
|
0.00173
|
NM_054027.6(ANKH):c.1237G>A (p.Ala413Thr)
|
rs112513380
|
0.00173
|
NM_182943.3(PLOD2):c.-4G>A
|
rs79161810
|
0.00173
|
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)
|
rs146077918
|
0.00172
|
NM_000199.5(SGSH):c.1337A>G (p.His446Arg)
|
rs148876719
|
0.00172
|
NM_014639.4(SKIC3):c.1848A>G (p.Thr616=)
|
rs145518834
|
0.00172
|
NM_015102.5(NPHP4):c.3574C>T (p.Arg1192Trp)
|
rs139022622
|
0.00172
|
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu)
|
rs149109801
|
0.00172
|
NM_002878.4(RAD51D):c.481-7G>A
|
rs145832514
|
0.00171
|
NM_005045.4(RELN):c.246C>G (p.Thr82=)
|
rs113242008
|
0.00171
|
NM_005802.5(TOPORS):c.814A>G (p.Ile272Val)
|
rs115436019
|
0.00171
|
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val)
|
rs183156491
|
0.00171
|
NM_020631.6(PLEKHG5):c.64G>A (p.Val22Met)
|
rs112530241
|
0.00171
|
NM_182961.4(SYNE1):c.20292T>C (p.Asp6764=)
|
rs73619386
|
0.00171
|
NM_000159.4(GCDH):c.642G>A (p.Thr214=)
|
rs142806397
|
0.00170
|
NM_000391.4(TPP1):c.1497T>C (p.Pro499=)
|
rs142672910
|
0.00170
|
NM_001089.3(ABCA3):c.2296C>T (p.Pro766Ser)
|
rs45592239
|
0.00170
|
NM_001267550.2(TTN):c.104365G>A (p.Glu34789Lys)
|
rs190565627
|
0.00170
|
NM_006662.3(SRCAP):c.5531C>G (p.Ser1844Cys)
|
rs78037619
|
0.00170
|
NM_014363.6(SACS):c.2988A>G (p.Leu996=)
|
rs111846884
|
0.00170
|
NM_030753.5(WNT3):c.429G>A (p.Ser143=)
|
rs148902716
|
0.00170
|
NM_152617.4(RNF168):c.383C>T (p.Ala128Val)
|
rs143373143
|
0.00170
|
NM_173660.5(DOK7):c.921C>T (p.Ala307=)
|
rs138148221
|
0.00170
|
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val)
|
rs117360770
|
0.00170
|
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)
|
rs117985576
|
0.00169
|
NM_001081.4(CUBN):c.8968G>A (p.Val2990Ile)
|
rs115888073
|
0.00169
|
NM_012254.3(SLC27A5):c.263C>T (p.Pro88Leu)
|
rs137880349
|
0.00169
|
NM_182961.4(SYNE1):c.25091C>T (p.Pro8364Leu)
|
rs148376885
|
0.00169
|
NM_213599.3(ANO5):c.2698A>C (p.Met900Leu)
|
rs148293985
|
0.00169
|
NM_001130987.2(DYSF):c.5058C>A (p.Leu1686=)
|
rs141476432
|
0.00168
|
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg)
|
rs147317123
|
0.00168
|
NM_014714.4(IFT140):c.3993G>C (p.Gln1331His)
|
rs35823417
|
0.00168
|
NM_020779.4(WDR35):c.2066G>A (p.Arg689His)
|
rs74470618
|
0.00168
|
NM_080680.3(COL11A2):c.329G>A (p.Arg110Gln)
|
rs145960317
|
0.00168
|
NM_201384.3(PLEC):c.11443G>C (p.Gly3815Arg)
|
rs200927137
|
0.00168
|
NM_201384.3(PLEC):c.5493G>A (p.Ala1831=)
|
rs201218437
|
0.00168
|
NM_000070.3(CAPN3):c.1350C>T (p.Phe450=)
|
rs144944366
|
0.00167
|
NM_004393.6(DAG1):c.599C>G (p.Thr200Ser)
|
rs41290704
|
0.00167
|
NM_053025.4(MYLK):c.399G>T (p.Gln133His)
|
rs140148380
|
0.00167
|
NM_178452.6(DNAAF1):c.1567G>A (p.Val523Ile)
|
rs148387367
|
0.00167
|
NM_000245.4(MET):c.2662C>T (p.His888Tyr)
|
rs115574135
|
0.00166
|
NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr)
|
rs145467740
|
0.00166
|
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp)
|
rs201580493
|
0.00166
|
NM_001292063.2(OTOG):c.1285C>T (p.Arg429Trp)
|
rs199968574
|
0.00166
|
NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln)
|
rs72659383
|
0.00166
|
NM_004456.5(EZH2):c.1852-9A>G
|
rs199654408
|
0.00166
|
NM_012418.4(FSCN2):c.48C>T (p.Leu16=)
|
rs199668780
|
0.00166
|
NM_016239.4(MYO15A):c.8841G>A (p.Leu2947=)
|
rs201809145
|
0.00166
|
NM_182961.4(SYNE1):c.7976C>A (p.Thr2659Asn)
|
rs117480635
|
0.00166
|
NM_000051.4(ATM):c.7788+8G>T
|
rs112775908
|
0.00165
|
NM_000214.3(JAG1):c.2301G>A (p.Thr767=)
|
rs147634857
|
0.00165
|
NM_000316.3(PTH1R):c.448C>T (p.Arg150Cys)
|
rs121434601
|
0.00165
|
NM_000392.5(ABCC2):c.3188A>G (p.Asn1063Ser)
|
rs17222540
|
0.00165
|
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys)
|
rs144157950
|
0.00165
|
NM_001852.4(COL9A2):c.250-7T>C
|
rs146943340
|
0.00165
|
NM_012418.4(FSCN2):c.357C>T (p.Ser119=)
|
rs189437871
|
0.00165
|
NM_018668.5(VPS33B):c.1701C>T (p.Leu567=)
|
rs146999653
|
0.00165
|
NM_025132.4(WDR19):c.2361C>T (p.Phe787=)
|
rs200133722
|
0.00165
|
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His)
|
rs45629132
|
0.00164
|
NM_001614.5(ACTG1):c.803-6C>T
|
rs199600452
|
0.00164
|
NM_207034.3(EDN3):c.670G>A (p.Ala224Thr)
|
rs11570351
|
0.00164
|
NM_000057.4(BLM):c.2268A>G (p.Lys756=)
|
rs146013879
|
0.00163
|
NM_000142.5(FGFR3):c.169G>A (p.Val57Met)
|
rs61735064
|
0.00163
|
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=)
|
rs191125006
|
0.00163
|
NM_001134831.2(AHI1):c.2490G>A (p.Arg830=)
|
rs368942099
|
0.00163
|
NM_001267550.2(TTN):c.40587A>G (p.Glu13529=)
|
rs370597107
|
0.00163
|
NM_001267550.2(TTN):c.46880C>T (p.Ala15627Val)
|
rs115813214
|
0.00163
|
NM_001701.4(BAAT):c.997A>G (p.Ser333Gly)
|
rs139829321
|
0.00163
|
NM_001849.4(COL6A2):c.483C>T (p.Thr161=)
|
rs138312213
|
0.00163
|
NM_006031.6(PCNT):c.5872C>G (p.His1958Asp)
|
rs189308172
|
0.00163
|
NM_006493.4(CLN5):c.705G>A (p.Val235=)
|
rs116531784
|
0.00163
|
NM_080680.3(COL11A2):c.390G>C (p.Arg130=)
|
rs149638770
|
0.00163
|
NM_178335.3(CCDC50):c.1203A>G (p.Lys401=)
|
rs146511344
|
0.00163
|
NM_201525.4(ADGRG1):c.1287-28G>C
|
rs60624815
|
0.00163
|
NM_000093.5(COL5A1):c.194G>A (p.Arg65Gln)
|
rs116003670
|
0.00162
|
NM_001164508.2(NEB):c.18464A>C (p.Tyr6155Ser)
|
rs201971223
|
0.00162
|
NM_012208.4(HARS2):c.324T>C (p.Tyr108=)
|
rs143687204
|
0.00162
|
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln)
|
rs151272083
|
0.00162
|
NM_147127.5(EVC2):c.1471-6C>T
|
rs115466792
|
0.00162
|
NM_000092.5(COL4A4):c.2056+10A>G
|
rs138869451
|
0.00161
|
NM_001130438.3(SPTAN1):c.5460G>A (p.Ala1820=)
|
rs140191388
|
0.00161
|
NM_001370298.3(FGD4):c.666A>T (p.Ala222=)
|
rs139357821
|
0.00161
|
NM_001379180.1(ESRRB):c.206C>T (p.Ala69Val)
|
rs61760172
|
0.00161
|
NM_017950.4(CCDC40):c.2251C>A (p.Pro751Thr)
|
rs141343307
|
0.00161
|
NM_001159773.2(CANT1):c.*9G>A
|
rs190867364
|
0.00160
|
NM_001199107.2(TBC1D24):c.1002C>T (p.Ala334=)
|
rs184389316
|
0.00160
|
NM_001379081.2(FREM1):c.3485A>G (p.Gln1162Arg)
|
rs113555227
|
0.00160
|
NM_001931.5(DLAT):c.570A>G (p.Gln190=)
|
rs143107853
|
0.00160
|
NM_005609.4(PYGM):c.1888G>A (p.Val630Met)
|
rs115347245
|
0.00160
|
NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys)
|
rs116180923
|
0.00160
|
NM_017777.4(MKS1):c.12C>T (p.Thr4=)
|
rs372471169
|
0.00160
|
NM_201384.3(PLEC):c.10497C>T (p.Asn3499=)
|
rs113113366
|
0.00160
|
NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met)
|
rs73559947
|
0.00159
|
NM_001199799.2(ILDR1):c.227C>T (p.Ala76Val)
|
rs143072070
|
0.00159
|
NM_001267550.2(TTN):c.14004C>T (p.Thr4668=)
|
rs201200682
|
0.00159
|
NM_004260.4(RECQL4):c.615C>G (p.Pro205=)
|
rs35639991
|
0.00159
|
NM_058246.4(DNAJB6):c.961T>C (p.Ser321Pro)
|
rs147168661
|
0.00159
|
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys)
|
rs4987046
|
0.00158
|
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala)
|
rs11571747
|
0.00158
|
NM_000392.5(ABCC2):c.2813G>A (p.Ser938Asn)
|
rs112339372
|
0.00158
|
NM_001145809.2(MYH14):c.4685G>A (p.Arg1562Gln)
|
rs140118363
|
0.00158
|
NM_014425.5(INVS):c.2193C>T (p.Gly731=)
|
rs148758887
|
0.00158
|
NM_022437.3(ABCG8):c.1170G>A (p.Thr390=)
|
rs139902223
|
0.00158
|
NM_025136.4(OPA3):c.537A>G (p.Lys179=)
|
rs140105522
|
0.00158
|
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His)
|
rs730254
|
0.00158
|
NM_000466.3(PEX1):c.130-9T>C
|
rs377337949
|
0.00157
|
NM_002225.5(IVD):c.11C>T (p.Ala4Val)
|
rs148189323
|
0.00157
|
NM_018451.5(CENPJ):c.175A>G (p.Thr59Ala)
|
rs138732534
|
0.00157
|
NM_033337.3(CAV3):c.336C>T (p.Ile112=)
|
rs139985460
|
0.00157
|
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)
|
rs45517423
|
0.00156
|
NM_001164508.2(NEB):c.8072G>A (p.Arg2691His)
|
rs35555631
|
0.00156
|
NM_001458.5(FLNC):c.6991G>A (p.Val2331Met)
|
rs191288058
|
0.00156
|
NM_001849.4(COL6A2):c.1560C>G (p.Pro520=)
|
rs112197239
|
0.00156
|
NM_004560.4(ROR2):c.1589G>A (p.Arg530Gln)
|
rs35852786
|
0.00156
|
NM_006922.4(SCN3A):c.5952C>T (p.Asp1984=)
|
rs145197227
|
0.00156
|
NM_014846.4(WASHC5):c.1818C>T (p.Pro606=)
|
rs140063111
|
0.00156
|
NM_015272.5(RPGRIP1L):c.2153-4G>C
|
rs201380599
|
0.00156
|
NM_021101.5(CLDN1):c.473+6G>A
|
rs142778400
|
0.00156
|
NM_000026.4(ADSL):c.616G>T (p.Ala206Ser)
|
rs148411623
|
0.00155
|
NM_000100.4(CSTB):c.*7C>G
|
rs201576714
|
0.00155
|
NM_000392.5(ABCC2):c.2073C>A (p.Val691=)
|
rs17222624
|
0.00155
|
NM_000443.4(ABCB4):c.712C>G (p.Leu238Val)
|
rs45596335
|
0.00155
|
NM_000466.3(PEX1):c.1011G>A (p.Lys337=)
|
rs142018583
|
0.00155
|
NM_000540.3(RYR1):c.2622G>A (p.Ala874=)
|
rs149381996
|
0.00155
|
NM_001379081.2(FREM1):c.1464C>T (p.Ser488=)
|
rs200064797
|
0.00155
|
NM_001845.6(COL4A1):c.1000-5T>G
|
rs75711155
|
0.00155
|
NM_004004.6(GJB2):c.*3C>A
|
rs111033460
|
0.00155
|
NM_130837.3(OPA1):c.2332-19C>A
|
rs77355463
|
0.00155
|
NM_000124.4(ERCC6):c.4223A>C (p.Glu1408Ala)
|
rs61760167
|
0.00154
|
NM_000463.3(UGT1A1):c.141C>T (p.Ile47=)
|
rs34526305
|
0.00154
|
NM_001130438.3(SPTAN1):c.6111C>T (p.Gly2037=)
|
rs139799727
|
0.00154
|
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln)
|
rs121918817
|
0.00154
|
NM_001267550.2(TTN):c.58612A>G (p.Thr19538Ala)
|
rs200017524
|
0.00154
|
NM_005045.4(RELN):c.77C>T (p.Ala26Val)
|
rs144557847
|
0.00154
|
NM_153240.5(NPHP3):c.3221G>A (p.Arg1074His)
|
rs144781228
|
0.00154
|
NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=)
|
rs118187988
|
0.00154
|
NM_000128.4(F11):c.1305-9G>T
|
rs4253426
|
0.00153
|
NM_001130987.2(DYSF):c.4756-3C>T
|
rs371227553
|
0.00153
|
NM_001267550.2(TTN):c.88297G>A (p.Asp29433Asn)
|
rs189202799
|
0.00153
|
NM_001330078.2(NRXN1):c.772+1078A>G
|
rs144049982
|
0.00153
|
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala)
|
rs142992009
|
0.00153
|
NM_003193.5(TBCE):c.194C>A (p.Thr65Lys)
|
rs144747353
|
0.00153
|
NM_006415.4(SPTLC1):c.261C>T (p.Gly87=)
|
rs151283029
|
0.00153
|
NM_006941.4(SOX10):c.822C>T (p.Gly274=)
|
rs147334218
|
0.00153
|
NM_012301.4(MAGI2):c.2213G>A (p.Arg738Gln)
|
rs145722885
|
0.00153
|
NM_014874.4(MFN2):c.1179G>A (p.Met393Ile)
|
rs12069578
|
0.00153
|
NM_015295.3(SMCHD1):c.2913+6C>G
|
rs186678728
|
0.00153
|
NM_018965.4(TREM2):c.140G>A (p.Arg47His)
|
rs75932628
|
0.00153
|
NM_022081.6(HPS4):c.1700C>T (p.Ala567Val)
|
rs140234219
|
0.00153
|
NM_030665.4(RAI1):c.1656C>T (p.Ser552=)
|
rs148309343
|
0.00153
|
NM_032043.3(BRIP1):c.2061G>C (p.Val687=)
|
rs112414873
|
0.00153
|
NM_080680.3(COL11A2):c.2336C>T (p.Pro779Leu)
|
rs150877886
|
0.00153
|
NM_201384.3(PLEC):c.2237G>A (p.Arg746His)
|
rs200887085
|
0.00153
|
NM_201384.3(PLEC):c.9351C>T (p.Phe3117=)
|
rs200895343
|
0.00153
|
NM_001364905.1(LRBA):c.8551C>T (p.Arg2851Cys)
|
rs145709687
|
0.00152
|
NM_001999.4(FBN2):c.953-8T>G
|
rs201818403
|
0.00152
|
NM_004465.2(FGF10):c.620A>C (p.His207Pro)
|
rs147715509
|
0.00152
|
NM_005591.4(MRE11):c.822T>C (p.Leu274=)
|
rs137868143
|
0.00152
|
NM_006790.3(MYOT):c.445G>C (p.Glu149Gln)
|
rs71578935
|
0.00152
|
NM_001039141.3(TRIOBP):c.1225C>T (p.Arg409Trp)
|
rs200333366
|
0.00151
|
NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys)
|
rs185594460
|
0.00151
|
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=)
|
rs181099904
|
0.00151
|
NM_001105206.3(LAMA4):c.4822-3C>T
|
rs191447048
|
0.00151
|
NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=)
|
rs45617636
|
0.00151
|
NM_001267550.2(TTN):c.68458G>C (p.Ala22820Pro)
|
rs72646880
|
0.00151
|
NM_001267550.2(TTN):c.98267C>T (p.Thr32756Ile)
|
rs199805060
|
0.00151
|
NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala)
|
rs148453565
|
0.00151
|
NM_021167.5(GATAD1):c.762G>A (p.Gly254=)
|
rs139637606
|
0.00151
|
NM_022124.6(CDH23):c.3010G>A (p.Val1004Met)
|
rs79705488
|
0.00151
|
NM_032119.4(ADGRV1):c.14223C>T (p.Ala4741=)
|
rs61999270
|
0.00151
|
NM_198576.4(AGRN):c.6074A>G (p.His2025Arg)
|
rs377296839
|
0.00151
|
NM_000392.5(ABCC2):c.2743C>T (p.Arg915Cys)
|
rs112758556
|
0.00150
|
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala)
|
rs35122256
|
0.00150
|
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=)
|
rs147448807
|
0.00150
|
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile)
|
rs56158747
|
0.00150
|
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=)
|
rs138886791
|
0.00150
|
NM_017433.5(MYO3A):c.1275G>A (p.Gln425=)
|
rs77562287
|
0.00150
|
NM_018136.5(ASPM):c.5299G>C (p.Ala1767Pro)
|
rs142536561
|
0.00150
|
NM_022124.6(CDH23):c.6329C>T (p.Ala2110Val)
|
rs111033492
|
0.00150
|
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile)
|
rs140679502
|
0.00150
|
NM_153603.4(COG7):c.2283C>T (p.Thr761=)
|
rs144814374
|
0.00150
|
NM_201384.3(PLEC):c.3543C>T (p.Val1181=)
|
rs202185399
|
0.00150
|
NM_001005361.3(DNM2):c.1902C>T (p.Asn634=)
|
rs2229919
|
0.00149
|
NM_001540.5(HSPB1):c.-19C>T
|
rs199602956
|
0.00149
|
NM_004612.4(TGFBR1):c.-2C>T
|
rs200224304
|
0.00149
|
NM_012414.4(RAB3GAP2):c.39C>T (p.Asp13=)
|
rs145667920
|
0.00149
|
NM_018344.6(SLC29A3):c.74G>A (p.Arg25Gln)
|
rs138976786
|
0.00149
|
NM_033641.4(COL4A6):c.3537G>A (p.Pro1179=)
|
rs144803723
|
0.00149
|
NM_201384.3(PLEC):c.8625C>T (p.Pro2875=)
|
rs183401234
|
0.00149
|
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)
|
rs363847
|
0.00148
|
NM_000492.4(CFTR):c.2820T>G (p.Thr940=)
|
rs60887846
|
0.00148
|
NM_000553.6(WRN):c.1149G>T (p.Leu383Phe)
|
rs4987238
|
0.00148
|
NM_000875.5(IGF1R):c.1336A>G (p.Met446Val)
|
rs117440569
|
0.00148
|
NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser)
|
rs148072630
|
0.00148
|
NM_001457.4(FLNB):c.6683T>C (p.Ile2228Thr)
|
rs149629209
|
0.00148
|
NM_004239.4(TRIP11):c.5298G>T (p.Lys1766Asn)
|
rs145868557
|
0.00148
|
NM_001134831.2(AHI1):c.72T>C (p.Ser24=)
|
rs73777558
|
0.00147
|
NM_001267550.2(TTN):c.11254+2T>C
|
rs199565715
|
0.00147
|
NM_001366722.1(GRIP1):c.1756A>C (p.Ile586Leu)
|
rs189438534
|
0.00147
|
NM_004369.4(COL6A3):c.1761C>T (p.Ala587=)
|
rs34978064
|
0.00147
|
NM_006269.2(RP1):c.2245C>T (p.Leu749Phe)
|
rs147990983
|
0.00147
|
NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn)
|
rs147588666
|
0.00147
|
NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn)
|
rs146366996
|
0.00147
|
NM_001267550.2(TTN):c.18961A>G (p.Ile6321Val)
|
rs145204073
|
0.00146
|
NM_001267550.2(TTN):c.33416G>C (p.Arg11139Thr)
|
rs72650040
|
0.00146
|
NM_001267550.2(TTN):c.73336C>T (p.Leu24446=)
|
rs189768015
|
0.00146
|
NM_002693.3(POLG):c.1890C>T (p.Asn630=)
|
rs148658588
|
0.00146
|
NM_004006.3(DMD):c.2971G>C (p.Glu991Gln)
|
rs72468667
|
0.00146
|
NM_024596.5(MCPH1):c.2250G>T (p.Pro750=)
|
rs370202384
|
0.00146
|
NM_201384.3(PLEC):c.8509G>A (p.Glu2837Lys)
|
rs199661077
|
0.00146
|
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe)
|
rs151073129
|
0.00145
|
NM_001127217.3(SMAD9):c.487G>A (p.Ala163Thr)
|
rs61753157
|
0.00145
|
NM_001127222.2(CACNA1A):c.3457C>G (p.Gln1153Glu)
|
rs201612257
|
0.00145
|
NM_001161352.2(KCNMA1):c.3051C>T (p.Asp1017=)
|
rs115772068
|
0.00145
|
NM_001267550.2(TTN):c.10104T>G (p.Val3368=)
|
rs142460433
|
0.00145
|
NM_001330078.2(NRXN1):c.501C>G (p.Leu167=)
|
rs200248561
|
0.00145
|
NM_002617.4(PEX10):c.495C>T (p.Phe165=)
|
rs150344828
|
0.00145
|
NM_004817.4(TJP2):c.61-6A>T
|
rs200415824
|
0.00145
|
NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile)
|
rs149051060
|
0.00145
|
NM_020779.4(WDR35):c.1248T>G (p.Ile416Met)
|
rs144701688
|
0.00145
|
NM_022436.3(ABCG5):c.696C>T (p.Val232=)
|
rs72796720
|
0.00145
|
NM_032119.4(ADGRV1):c.15669G>A (p.Gly5223=)
|
rs61741955
|
0.00145
|
NM_153704.6(TMEM67):c.186T>C (p.Cys62=)
|
rs115660279
|
0.00145
|
NM_000381.4(MID1):c.1266C>T (p.Thr422=)
|
rs148477118
|
0.00144
|
NM_000539.3(RHO):c.381C>G (p.Ser127=)
|
rs146311684
|
0.00144
|
NM_000543.5(SMPD1):c.1340+7C>T
|
rs116480929
|
0.00144
|
NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=)
|
rs2227898
|
0.00144
|
NM_001077418.3(TMEM231):c.804C>T (p.Phe268=)
|
rs149118721
|
0.00144
|
NM_001277313.2(FMN1):c.*1G>A
|
rs114851360
|
0.00144
|
NM_201384.3(PLEC):c.1824C>T (p.Ser608=)
|
rs201927593
|
0.00144
|
NM_201384.3(PLEC):c.6408G>A (p.Glu2136=)
|
rs200444977
|
0.00144
|
NM_000249.4(MLH1):c.2146G>A (p.Val716Met)
|
rs35831931
|
0.00143
|
NM_001039141.3(TRIOBP):c.4728T>C (p.Arg1576=)
|
rs112874177
|
0.00143
|
NM_001122630.2(CDKN1C):c.636C>T (p.Ser212=)
|
rs540923047
|
0.00143
|
NM_001378452.1(ITPR1):c.3207C>T (p.Thr1069=)
|
rs186541002
|
0.00143
|
NM_001848.3(COL6A1):c.105C>G (p.Pro35=)
|
rs145579577
|
0.00143
|
NM_004006.3(DMD):c.7472A>G (p.Gln2491Arg)
|
rs147694734
|
0.00143
|
NM_012301.4(MAGI2):c.219C>T (p.Pro73=)
|
rs148240352
|
0.00143
|
NM_024408.4(NOTCH2):c.4122C>T (p.Cys1374=)
|
rs74117504
|
0.00143
|
NM_024809.5(TCTN2):c.615C>T (p.Gly205=)
|
rs147485641
|
0.00143
|
NM_181486.4(TBX5):c.804C>G (p.Ala268=)
|
rs35110399
|
0.00143
|
NM_198859.4(PRICKLE2):c.788-6T>C
|
rs180903875
|
0.00143
|
NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln)
|
rs187003641
|
0.00142
|
NM_002691.4(POLD1):c.2967G>A (p.Thr989=)
|
rs3218752
|
0.00142
|
NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln)
|
rs111033480
|
0.00142
|
NM_022436.3(ABCG5):c.50T>G (p.Val17Gly)
|
rs72542427
|
0.00142
|
NM_139125.4(MASP1):c.674A>G (p.Asn225Ser)
|
rs145045341
|
0.00142
|
NM_000059.4(BRCA2):c.9634G>C (p.Gly3212Arg)
|
rs55775473
|
0.00141
|
NM_001130823.3(DNMT1):c.81-3C>T
|
rs76503110
|
0.00141
|
NM_001267550.2(TTN):c.32593G>C (p.Val10865Leu)
|
rs150733188
|
0.00141
|
NM_001267550.2(TTN):c.61029T>C (p.Phe20343=)
|
rs6706088
|
0.00141
|
NM_001267550.2(TTN):c.65747G>A (p.Arg21916Gln)
|
rs148849567
|
0.00141
|
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg)
|
rs201158906
|
0.00141
|
NM_017882.3(CLN6):c.339G>A (p.Thr113=)
|
rs146135801
|
0.00141
|
NM_024408.4(NOTCH2):c.6223G>A (p.Val2075Met)
|
rs150516342
|
0.00141
|
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg)
|
rs7215458
|
0.00140
|
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu)
|
rs147493628
|
0.00140
|
NM_000392.5(ABCC2):c.2944A>G (p.Ile982Val)
|
rs17222554
|
0.00140
|
NM_000466.3(PEX1):c.1797A>G (p.Gly599=)
|
rs76986636
|
0.00140
|
NM_000540.3(RYR1):c.2919C>T (p.His973=)
|
rs139363830
|
0.00140
|
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser)
|
rs193224180
|
0.00140
|
NM_001349338.3(FOXP1):c.1709A>G (p.Asn570Ser)
|
rs140161845
|
0.00140
|
NM_001355436.2(SPTB):c.2881G>A (p.Val961Ile)
|
rs149316006
|
0.00140
|
NM_001384140.1(PCDH15):c.4801G>A (p.Gly1601Ser)
|
rs181306086
|
0.00140
|
NM_001457.4(FLNB):c.4929C>T (p.Ala1643=)
|
rs149070858
|
0.00140
|
NM_001848.3(COL6A1):c.1644C>T (p.Asp548=)
|
rs182425338
|
0.00140
|
NM_005045.4(RELN):c.3477C>A (p.Asn1159Lys)
|
rs114684479
|
0.00140
|
NM_014780.5(CUL7):c.861G>A (p.Gly287=)
|
rs61750322
|
0.00140
|
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln)
|
rs104894483
|
0.00140
|
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser)
|
rs41273722
|
0.00140
|
NM_182961.4(SYNE1):c.23259C>T (p.Arg7753=)
|
rs139590550
|
0.00140
|
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser)
|
rs118203742
|
0.00139
|
NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu)
|
rs55816687
|
0.00138
|
NM_000260.4(MYO7A):c.510G>A (p.Leu170=)
|
rs34477144
|
0.00138
|
NM_001083961.2(WDR62):c.1359C>T (p.Asn453=)
|
rs148667984
|
0.00138
|
NM_001364905.1(LRBA):c.6046+1886T>C
|
rs72959815
|
0.00138
|
NM_001378454.1(ALMS1):c.3732G>A (p.Lys1244=)
|
rs140670994
|
0.00138
|
NM_020975.6(RET):c.654G>A (p.Pro218=)
|
rs137928436
|
0.00138
|
NM_021116.4(ADCY1):c.2694C>T (p.Asn898=)
|
rs61735492
|
0.00138
|
NM_181882.3(PRX):c.3947C>T (p.Ala1316Val)
|
rs142762689
|
0.00138
|
NM_182914.3(SYNE2):c.19135C>T (p.Arg6379Cys)
|
rs141741640
|
0.00138
|
NM_198525.3(KIF7):c.3944C>T (p.Pro1315Leu)
|
rs150248985
|
0.00138
|
NM_000137.4(FAH):c.1098G>A (p.Ser366=)
|
rs35033541
|
0.00137
|
NM_001083961.2(WDR62):c.2666T>C (p.Met889Thr)
|
rs139749569
|
0.00137
|
NM_001191061.2(SLC25A22):c.570C>T (p.Leu190=)
|
rs145322467
|
0.00137
|
NM_001267550.2(TTN):c.72782G>A (p.Arg24261Gln)
|
rs142874389
|
0.00137
|
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=)
|
rs117199211
|
0.00137
|
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser)
|
rs145259927
|
0.00137
|
NM_001999.4(FBN2):c.2555-7A>G
|
rs28763949
|
0.00137
|
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu)
|
rs71640285
|
0.00137
|
NM_018136.5(ASPM):c.646G>A (p.Glu216Lys)
|
rs151050191
|
0.00137
|
NM_182961.4(SYNE1):c.20288C>T (p.Ser6763Leu)
|
rs115534729
|
0.00137
|
NM_001110556.2(FLNA):c.6516G>A (p.Gln2172=)
|
rs199802825
|
0.00136
|
NM_001277313.2(FMN1):c.4051G>A (p.Val1351Met)
|
rs76835557
|
0.00136
|
NM_030665.4(RAI1):c.3655C>T (p.Leu1219Phe)
|
rs151290050
|
0.00136
|
NM_001330078.2(NRXN1):c.222C>T (p.Gly74=)
|
rs201592993
|
0.00135
|
NM_001429.4(EP300):c.5061+10G>A
|
rs78432056
|
0.00135
|
NM_001848.3(COL6A1):c.1776C>T (p.Asp592=)
|
rs148439285
|
0.00135
|
NM_002206.3(ITGA7):c.3150G>T (p.Leu1050=)
|
rs114735704
|
0.00135
|
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr)
|
rs148262378
|
0.00135
|
NM_003193.5(TBCE):c.191C>T (p.Pro64Leu)
|
rs147489278
|
0.00135
|
NM_003244.4(TGIF1):c.123C>T (p.Asn41=)
|
rs138292737
|
0.00135
|
NM_005445.4(SMC3):c.2934G>A (p.Lys978=)
|
rs147463420
|
0.00135
|
NM_005996.4(TBX3):c.1095T>C (p.His365=)
|
rs14175
|
0.00135
|
NM_016219.5(MAN1B1):c.272C>T (p.Ala91Val)
|
rs138411911
|
0.00135
|
NM_016219.5(MAN1B1):c.337T>C (p.Phe113Leu)
|
rs147529965
|
0.00135
|
NM_020754.4(ARHGAP31):c.2814G>T (p.Gln938His)
|
rs201519258
|
0.00135
|
NM_021830.5(TWNK):c.639C>T (p.Gly213=)
|
rs11542130
|
0.00135
|
NM_032119.4(ADGRV1):c.3255T>C (p.Asp1085=)
|
rs183447491
|
0.00135
|
NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=)
|
rs141574387
|
0.00135
|
NM_182961.4(SYNE1):c.2881C>T (p.Arg961Trp)
|
rs201146062
|
0.00135
|
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu)
|
rs114986640
|
0.00134
|
NM_001267550.2(TTN):c.72137C>T (p.Ala24046Val)
|
rs146767076
|
0.00134
|
NM_001267550.2(TTN):c.8938G>A (p.Ala2980Thr)
|
rs72647885
|
0.00134
|
NM_001848.3(COL6A1):c.2220G>A (p.Pro740=)
|
rs138976133
|
0.00134
|
NM_001999.4(FBN2):c.8364+7A>T
|
rs185052980
|
0.00134
|
NM_014363.6(SACS):c.2983G>T (p.Val995Phe)
|
rs142967124
|
0.00134
|
NM_000258.3(MYL3):c.81T>C (p.Pro27=)
|
rs147584015
|
0.00133
|
NM_001039141.3(TRIOBP):c.4139A>G (p.Glu1380Gly)
|
rs202059880
|
0.00133
|
NM_001130438.3(SPTAN1):c.7392G>A (p.Ala2464=)
|
rs149318543
|
0.00133
|
NM_001267550.2(TTN):c.13202G>A (p.Arg4401Gln)
|
rs200431386
|
0.00133
|
NM_001267550.2(TTN):c.17183-9T>C
|
rs141687561
|
0.00133
|
NM_001267550.2(TTN):c.32480C>T (p.Ala10827Val)
|
rs72650030
|
0.00133
|
NM_001851.6(COL9A1):c.1288-9A>G
|
rs181039243
|
0.00133
|
NM_003907.3(EIF2B5):c.1934C>T (p.Ala645Val)
|
rs150130018
|
0.00133
|
NM_006790.3(MYOT):c.981T>C (p.Asn327=)
|
rs148479015
|
0.00133
|
NM_007317.3(KIF22):c.12C>T (p.Gly4=)
|
rs374699250
|
0.00133
|
NM_014014.5(SNRNP200):c.5766C>T (p.Leu1922=)
|
rs147427344
|
0.00133
|
NM_014467.3(SRPX2):c.1373G>A (p.Arg458Gln)
|
rs146051561
|
0.00133
|
NM_015386.3(COG4):c.592C>T (p.Arg198Cys)
|
rs118183032
|
0.00133
|
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)
|
rs201838492
|
0.00133
|
NM_033419.5(PGAP3):c.811C>A (p.Leu271Met)
|
rs147481183
|
0.00133
|
NM_194248.3(OTOF):c.5063C>T (p.Thr1688Met)
|
rs111033393
|
0.00133
|
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=)
|
rs28897762
|
0.00132
|
NM_001077415.3(CRELD1):c.498C>T (p.Tyr166=)
|
rs146437600
|
0.00132
|
NM_001200.4(BMP2):c.552G>A (p.Ser184=)
|
rs142811428
|
0.00132
|
NM_001267550.2(TTN):c.58869A>G (p.Lys19623=)
|
rs191066933
|
0.00132
|
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=)
|
rs187327463
|
0.00132
|
NM_001848.3(COL6A1):c.2049C>T (p.Asn683=)
|
rs143695871
|
0.00132
|
NM_004415.4(DSP):c.3696C>A (p.Ser1232=)
|
rs141120358
|
0.00132
|
NM_005445.4(SMC3):c.2329T>C (p.Leu777=)
|
rs76625999
|
0.00132
|
NM_001267550.2(TTN):c.77813G>C (p.Trp25938Ser)
|
rs186681106
|
0.00131
|
NM_001267550.2(TTN):c.83315A>T (p.Asn27772Ile)
|
rs578191491
|
0.00131
|
NM_001291867.2(NHS):c.2593G>A (p.Ala865Thr)
|
rs149609550
|
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_005677.4(COLQ):c.23C>G (p.Thr8Ser)
|
rs189427175
|
0.00131
|
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=)
|
rs140353002
|
0.00130
|
NM_001267550.2(TTN):c.24195C>T (p.Ser8065=)
|
rs182425565
|
0.00130
|
NM_001267550.2(TTN):c.29541C>T (p.Phe9847=)
|
rs56812642
|
0.00130
|
NM_001849.4(COL6A2):c.2607C>T (p.Asp869=)
|
rs150219725
|
0.00130
|
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile)
|
rs35719192
|
0.00130
|
NM_015346.4(ZFYVE26):c.6086T>C (p.Ile2029Thr)
|
rs139163400
|
0.00130
|
NM_172364.5(CACNA2D4):c.2095C>T (p.Leu699Phe)
|
rs151121191
|
0.00130
|
NM_001039141.3(TRIOBP):c.5378A>C (p.Glu1793Ala)
|
rs147273930
|
0.00129
|
NM_001267550.2(TTN):c.32555-6T>C
|
rs375742678
|
0.00129
|
NM_001360.3(DHCR7):c.208G>A (p.Gly70Ser)
|
rs144512551
|
0.00129
|
NM_003392.7(WNT5A):c.14T>C (p.Ile5Thr)
|
rs200914260
|
0.00129
|
NM_133379.5(TTN):c.14214C>T (p.Thr4738=)
|
rs147513899
|
0.00129
|
NM_145239.3(PRRT2):c.612C>G (p.Pro204=)
|
rs149260055
|
0.00129
|
NM_001267550.2(TTN):c.1002C>T (p.Thr334=)
|
rs148094198
|
0.00128
|
NM_001377.3(DYNC2H1):c.3015A>G (p.Leu1005=)
|
rs201310509
|
0.00128
|
NM_001813.3(CENPE):c.7222C>A (p.Gln2408Lys)
|
rs140630684
|
0.00128
|
NM_001943.5(DSG2):c.1875G>C (p.Leu625=)
|
rs35743180
|
0.00128
|
NM_002693.3(POLG):c.2735-7C>G
|
rs200372494
|
0.00128
|
NM_005592.4(MUSK):c.486+7G>C
|
rs187497836
|
0.00128
|
NM_007254.4(PNKP):c.831G>A (p.Thr277=)
|
rs148491228
|
0.00128
|
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln)
|
rs138282349
|
0.00128
|
NM_054012.4(ASS1):c.1101G>A (p.Leu367=)
|
rs139031154
|
0.00128
|
NM_182961.4(SYNE1):c.14221C>T (p.Arg4741Cys)
|
rs150062167
|
0.00128
|
NM_000458.4(HNF1B):c.951C>G (p.Ala317=)
|
rs145750370
|
0.00127
|
NM_000631.5(NCF4):c.271+7G>A
|
rs201881905
|
0.00127
|
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His)
|
rs140446520
|
0.00127
|
NM_006031.6(PCNT):c.5199G>A (p.Lys1733=)
|
rs61735808
|
0.00127
|
NM_153717.3(EVC):c.1040C>T (p.Thr347Met)
|
rs34947207
|
0.00127
|
NM_000218.3(KCNQ1):c.447C>T (p.Ala149=)
|
rs146436765
|
0.00126
|
NM_005249.5(FOXG1):c.447C>T (p.Ala149=)
|
rs112803404
|
0.00126
|
NM_181303.2(NLGN3):c.2034C>T (p.Tyr678=)
|
rs143055854
|
0.00126
|
NM_182961.4(SYNE1):c.6934T>C (p.Phe2312Leu)
|
rs138004884
|
0.00126
|
NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met)
|
rs115119858
|
0.00125
|
NM_007078.3(LDB3):c.689+10G>A
|
rs45563234
|
0.00125
|
NM_021120.4(DLG3):c.409-4G>T
|
rs188475429
|
0.00125
|
NM_032119.4(ADGRV1):c.2119A>T (p.Ile707Leu)
|
rs200897149
|
0.00125
|
NM_182961.4(SYNE1):c.16538G>A (p.Arg5513Lys)
|
rs138745849
|
0.00125
|
NM_000466.3(PEX1):c.3426C>T (p.Thr1142=)
|
rs143220470
|
0.00124
|
NM_003482.4(KMT2D):c.6733C>G (p.Leu2245Val)
|
rs201931833
|
0.00124
|
NM_003482.4(KMT2D):c.9726C>T (p.Ala3242=)
|
rs183688784
|
0.00124
|
NM_004006.3(DMD):c.5265C>T (p.Pro1755=)
|
rs145515413
|
0.00124
|
NM_005445.4(SMC3):c.1671-6A>G
|
rs200848781
|
0.00124
|
NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg)
|
rs115488133
|
0.00124
|
NM_133379.5(TTN):c.10411G>A (p.Ala3471Thr)
|
rs149878929
|
0.00124
|
NM_203447.4(DOCK8):c.378C>G (p.Ile126Met)
|
rs141175202
|
0.00124
|
NM_000091.5(COL4A3):c.2886C>T (p.Phe962=)
|
rs77846212
|
0.00123
|
NM_000168.6(GLI3):c.1671C>T (p.Tyr557=)
|
rs143948870
|
0.00123
|
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly)
|
rs191333060
|
0.00123
|
NM_001267550.2(TTN):c.2764C>T (p.Arg922Cys)
|
rs72647862
|
0.00123
|
NM_001277313.2(FMN1):c.3271G>A (p.Ala1091Thr)
|
rs139446870
|
0.00123
|
NM_001376.5(DYNC1H1):c.9264-8T>G
|
rs368432468
|
0.00123
|
NM_001378120.1(MBD5):c.3978C>T (p.Val1326=)
|
rs35692977
|
0.00123
|
NM_001378615.1(CC2D2A):c.2813T>C (p.Met938Thr)
|
rs61740537
|
0.00123
|
NM_002473.6(MYH9):c.4198C>T (p.Arg1400Trp)
|
rs76368635
|
0.00123
|
NM_005045.4(RELN):c.3123C>T (p.Gly1041=)
|
rs41276148
|
0.00123
|
NM_005422.4(TECTA):c.2123A>G (p.Lys708Arg)
|
rs144932466
|
0.00123
|
NM_006005.3(WFS1):c.2052G>A (p.Ala684=)
|
rs71539668
|
0.00123
|
NM_020365.5(EIF2B3):c.224T>C (p.Ile75Thr)
|
rs144054571
|
0.00123
|
NM_021120.4(DLG3):c.429C>T (p.Phe143=)
|
rs144225009
|
0.00123
|
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)
|
rs149339264
|
0.00123
|
NM_000260.4(MYO7A):c.4845C>A (p.Pro1615=)
|
rs61900036
|
0.00122
|
NM_001267550.2(TTN):c.105183G>A (p.Ala35061=)
|
rs371075036
|
0.00122
|
NM_001267550.2(TTN):c.25134A>G (p.Ala8378=)
|
rs371819104
|
0.00122
|
NM_001849.4(COL6A2):c.2683A>C (p.Ser895Arg)
|
rs141233891
|
0.00122
|
NM_003193.5(TBCE):c.281G>A (p.Gly94Glu)
|
rs148616786
|
0.00122
|
NM_005529.7(HSPG2):c.11169C>T (p.Phe3723=)
|
rs139033413
|
0.00122
|
NM_006517.3(SLC16A2):c.1A>T (p.Met1Leu)
|
rs201853949
|
0.00122
|
NM_000214.3(JAG1):c.909T>C (p.His303=)
|
rs139574260
|
0.00121
|
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln)
|
rs139889944
|
0.00121
|
NM_001127649.3(PEX26):c.911G>A (p.Arg304His)
|
rs17851387
|
0.00121
|
NM_003193.5(TBCE):c.1397C>T (p.Pro466Leu)
|
rs114972093
|
0.00121
|
NM_004284.6(CHD1L):c.2410C>T (p.Gln804Ter)
|
rs149664186
|
0.00121
|
NM_006445.4(PRPF8):c.52C>T (p.Leu18=)
|
rs148531352
|
0.00121
|
NM_006662.3(SRCAP):c.3097T>C (p.Ser1033Pro)
|
rs202000509
|
0.00121
|
NM_015102.5(NPHP4):c.3168C>T (p.His1056=)
|
rs376351293
|
0.00121
|
NM_021625.5(TRPV4):c.2248G>A (p.Val750Ile)
|
rs148171058
|
0.00121
|
NM_032119.4(ADGRV1):c.11805C>T (p.Asn3935=)
|
rs144269892
|
0.00121
|
NM_153240.5(NPHP3):c.3189A>G (p.Lys1063=)
|
rs112386774
|
0.00121
|
NM_153240.5(NPHP3):c.3570+9G>T
|
rs112749193
|
0.00121
|
NM_153240.5(NPHP3):c.3971T>C (p.Phe1324Ser)
|
rs113364886
|
0.00121
|
NM_183050.4(BCKDHB):c.840+33A>G
|
rs112060016
|
0.00121
|
NM_001145809.2(MYH14):c.1944C>T (p.Asp648=)
|
rs189243324
|
0.00120
|
NM_001194998.2(CEP152):c.767T>C (p.Ile256Thr)
|
rs201217824
|
0.00120
|
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile)
|
rs150860808
|
0.00120
|
NM_001378452.1(ITPR1):c.4837T>C (p.Leu1613=)
|
rs367643585
|
0.00120
|
NM_001378615.1(CC2D2A):c.351T>G (p.Ser117Arg)
|
rs186264635
|
0.00120
|
NM_017882.3(CLN6):c.53C>T (p.Ala18Val)
|
rs547125345
|
0.00120
|
NM_018668.5(VPS33B):c.357G>A (p.Lys119=)
|
rs146758743
|
0.00120
|
NM_153240.5(NPHP3):c.3093A>G (p.Glu1031=)
|
rs112300370
|
0.00120
|
NM_183050.4(BCKDHB):c.634-32T>C
|
rs113814307
|
0.00120
|
NM_198859.4(PRICKLE2):c.457G>A (p.Val153Ile)
|
rs139747674
|
0.00120
|
NM_201384.3(PLEC):c.9333G>A (p.Gly3111=)
|
rs188739870
|
0.00120
|
NM_001134407.3(GRIN2A):c.903C>T (p.Thr301=)
|
rs78241448
|
0.00119
|
NM_001267550.2(TTN):c.26439C>T (p.Asn8813=)
|
rs200088963
|
0.00119
|
NM_001267550.2(TTN):c.66692G>A (p.Arg22231His)
|
rs200971254
|
0.00119
|
NM_001370259.2(MEN1):c.1296G>A (p.Leu432=)
|
rs138770431
|
0.00119
|
NM_001458.5(FLNC):c.4947C>T (p.Gly1649=)
|
rs201069454
|
0.00119
|
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser)
|
rs141541387
|
0.00119
|
NM_004006.3(DMD):c.5620G>A (p.Glu1874Lys)
|
rs142441725
|
0.00119
|
NM_014845.6(FIG4):c.627A>G (p.Leu209=)
|
rs140111406
|
0.00119
|
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)
|
rs147876778
|
0.00119
|
NM_201384.3(PLEC):c.10260C>T (p.Pro3420=)
|
rs62642463
|
0.00119
|
NM_000152.5(GAA):c.1830C>T (p.Ala610=)
|
rs61736896
|
0.00118
|
NM_000214.3(JAG1):c.1120+10A>G
|
rs201711717
|
0.00118
|
NM_001194998.2(CEP152):c.644G>A (p.Ser215Asn)
|
rs200957146
|
0.00118
|
NM_001194998.2(CEP152):c.925A>C (p.Lys309Gln)
|
rs199862615
|
0.00118
|
NM_001194998.2(CEP152):c.982A>C (p.Lys328Gln)
|
rs201942310
|
0.00118
|
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His)
|
rs72646808
|
0.00118
|
NM_002968.3(SALL1):c.3794G>A (p.Gly1265Glu)
|
rs149302006
|
0.00118
|
NM_003332.4(TYROBP):c.238C>T (p.Arg80Trp)
|
rs140188939
|
0.00118
|
NM_005529.7(HSPG2):c.12842G>A (p.Arg4281His)
|
rs151184052
|
0.00118
|
NM_145239.3(PRRT2):c.133C>T (p.Pro45Ser)
|
rs11556732
|
0.00118
|
NM_201384.3(PLEC):c.3885G>A (p.Pro1295=)
|
rs148465219
|
0.00118
|
NM_201384.3(PLEC):c.8201C>T (p.Ala2734Val)
|
rs200202579
|
0.00118
|
NM_206933.4(USH2A):c.1179A>G (p.Gln393=)
|
rs148447919
|
0.00118
|
NM_000202.8(IDS):c.126C>T (p.Ile42=)
|
rs146963087
|
0.00117
|
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln)
|
rs200212521
|
0.00117
|
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=)
|
rs72648255
|
0.00117
|
NM_003865.3(HESX1):c.90C>T (p.Asp30=)
|
rs115448575
|
0.00117
|
NM_004984.4(KIF5A):c.2839A>G (p.Thr947Ala)
|
rs150672943
|
0.00117
|
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)
|
rs142000963
|
0.00117
|
NM_000548.5(TSC2):c.1946T>C (p.Met649Thr)
|
rs45490792
|
0.00116
|
NM_001457.4(FLNB):c.2493C>T (p.Pro831=)
|
rs145952210
|
0.00116
|
NM_001458.5(FLNC):c.6309C>T (p.Thr2103=)
|
rs376992044
|
0.00116
|
NM_001853.4(COL9A3):c.891C>T (p.Ser297=)
|
rs142412708
|
0.00116
|
NM_004380.3(CREBBP):c.4350C>T (p.Tyr1450=)
|
rs144832179
|
0.00116
|
NM_005506.4(SCARB2):c.246G>C (p.Arg82=)
|
rs35035064
|
0.00116
|
NM_005592.4(MUSK):c.665A>G (p.Asn222Ser)
|
rs55826142
|
0.00116
|
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg)
|
rs199727787
|
0.00116
|
NM_016929.5(CLIC5):c.326G>A (p.Arg109Gln)
|
rs117204561
|
0.00116
|
NM_130837.3(OPA1):c.239A>G (p.Tyr80Cys)
|
rs151103940
|
0.00116
|
NM_139125.4(MASP1):c.863G>A (p.Arg288Gln)
|
rs116001173
|
0.00116
|
NM_182914.3(SYNE2):c.19248C>G (p.Pro6416=)
|
rs150363140
|
0.00116
|
NM_182914.3(SYNE2):c.7163A>G (p.Glu2388Gly)
|
rs45590135
|
0.00116
|
NM_182961.4(SYNE1):c.6521C>T (p.Thr2174Ile)
|
rs141858284
|
0.00116
|
NM_000202.8(IDS):c.123C>G (p.Leu41=)
|
rs146904022
|
0.00115
|
NM_000430.4(PAFAH1B1):c.780A>G (p.Val260=)
|
rs150380620
|
0.00115
|
NM_001042432.2(CLN3):c.318C>T (p.Leu106=)
|
rs148248159
|
0.00115
|
NM_004387.4(NKX2-5):c.237G>C (p.Pro79=)
|
rs72554029
|
0.00115
|
NM_006031.6(PCNT):c.6957T>G (p.Phe2319Leu)
|
rs61735813
|
0.00115
|
NM_000061.3(BTK):c.615G>T (p.Glu205Asp)
|
rs35877704
|
0.00114
|
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg)
|
rs150367385
|
0.00114
|
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=)
|
rs145296488
|
0.00114
|
NM_001369.3(DNAH5):c.2355C>T (p.Leu785=)
|
rs112238091
|
0.00114
|
NM_001378454.1(ALMS1):c.10788G>C (p.Val3596=)
|
rs45445398
|
0.00114
|
NM_002485.5(NBN):c.1317A>G (p.Ile439Met)
|
rs28538230
|
0.00114
|
NM_018668.5(VPS33B):c.1148T>C (p.Ile383Thr)
|
rs149121639
|
0.00114
|
NM_182961.4(SYNE1):c.6946A>G (p.Ile2316Val)
|
rs116721144
|
0.00114
|
NM_201384.3(PLEC):c.12628G>A (p.Ala4210Thr)
|
rs199941693
|
0.00114
|
NM_000138.5(FBN1):c.7950T>C (p.Asn2650=)
|
rs143055643
|
0.00113
|
NM_000199.5(SGSH):c.1002C>T (p.Ala334=)
|
rs145596938
|
0.00113
|
NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr)
|
rs141867897
|
0.00113
|
NM_001206979.2(NR1H4):c.732+6A>G
|
rs183902004
|
0.00113
|
NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala)
|
rs201218828
|
0.00113
|
NM_001267550.2(TTN):c.56970T>C (p.Pro18990=)
|
rs372019333
|
0.00113
|
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu)
|
rs45495192
|
0.00113
|
NM_004006.3(DMD):c.2745A>C (p.Thr915=)
|
rs149922633
|
0.00113
|
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys)
|
rs3747835
|
0.00113
|
NM_015102.5(NPHP4):c.1024C>T (p.Arg342Cys)
|
rs190940697
|
0.00113
|
NM_138694.4(PKHD1):c.281+3A>G
|
rs79803080
|
0.00113
|
NM_138694.4(PKHD1):c.5358C>T (p.Ser1786=)
|
rs78543922
|
0.00113
|
NM_153426.3(PITX2):c.184+8C>A
|
rs199725972
|
0.00113
|
NM_198859.4(PRICKLE2):c.438G>A (p.Ala146=)
|
rs149786687
|
0.00113
|
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=)
|
rs41292592
|
0.00112
|
NM_001429.4(EP300):c.5147G>C (p.Ser1716Thr)
|
rs147676363
|
0.00112
|
NM_001848.3(COL6A1):c.2469G>A (p.Thr823=)
|
rs146662894
|
0.00112
|
NM_001849.4(COL6A2):c.2599C>T (p.Arg867Trp)
|
rs144484744
|
0.00112
|
NM_004369.4(COL6A3):c.9524T>C (p.Met3175Thr)
|
rs148183839
|
0.00112
|
NM_006922.4(SCN3A):c.1619C>T (p.Ser540Phe)
|
rs147678484
|
0.00112
|
NM_080680.3(COL11A2):c.1612-10G>C
|
rs182657680
|
0.00112
|
NM_206933.4(USH2A):c.2094C>T (p.Thr698=)
|
rs141489104
|
0.00112
|
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser)
|
rs45484298
|
0.00111
|
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=)
|
rs149240122
|
0.00111
|
NM_001267550.2(TTN):c.8314G>A (p.Val2772Met)
|
rs143035953
|
0.00111
|
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val)
|
rs146739496
|
0.00111
|
NM_002427.4(MMP13):c.1335C>T (p.Asn445=)
|
rs145432284
|
0.00111
|
NM_004530.6(MMP2):c.1569A>G (p.Val523=)
|
rs115179673
|
0.00111
|
NM_001267550.2(TTN):c.107605A>G (p.Ser35869Gly)
|
rs201835888
|
0.00110
|
NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys)
|
rs146496197
|
0.00110
|
NM_001267550.2(TTN):c.66898G>A (p.Val22300Ile)
|
rs200343420
|
0.00110
|
NM_001848.3(COL6A1):c.2758C>T (p.Leu920=)
|
rs141620374
|
0.00110
|
NM_002618.4(PEX13):c.893T>C (p.Met298Thr)
|
rs138545154
|
0.00110
|
NM_004086.3(COCH):c.629+5C>T
|
rs202109231
|
0.00110
|
NM_004817.4(TJP2):c.1877C>G (p.Thr626Ser)
|
rs149911553
|
0.00110
|
NM_015166.4(MLC1):c.628G>A (p.Val210Ile)
|
rs11568178
|
0.00110
|
NM_016239.4(MYO15A):c.9691-3C>A
|
rs142996507
|
0.00110
|
NM_017617.5(NOTCH1):c.1511G>A (p.Arg504His)
|
rs201768800
|
0.00110
|
NM_201384.3(PLEC):c.4230C>T (p.Asp1410=)
|
rs111282136
|
0.00110
|
NM_201384.3(PLEC):c.602+5A>G
|
rs200744982
|
0.00110
|
NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg)
|
rs55800493
|
0.00109
|
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=)
|
rs363824
|
0.00109
|
NM_000548.5(TSC2):c.4293G>A (p.Ser1431=)
|
rs45487992
|
0.00109
|
NM_001369.3(DNAH5):c.1251C>T (p.Thr417=)
|
rs112911055
|
0.00109
|
NM_004006.3(DMD):c.7571G>A (p.Arg2524His)
|
rs151244052
|
0.00109
|
NM_005591.4(MRE11):c.426C>T (p.Asp142=)
|
rs3218740
|
0.00109
|
NM_018136.5(ASPM):c.6125A>G (p.Asp2042Gly)
|
rs150327858
|
0.00109
|
NM_203486.3(DLL3):c.63C>T (p.Leu21=)
|
rs146255899
|
0.00109
|
NM_213599.3(ANO5):c.2521-7C>T
|
rs201438159
|
0.00109
|
NM_000137.4(FAH):c.565G>A (p.Val189Ile)
|
rs145389125
|
0.00108
|
NM_000492.4(CFTR):c.2620-26A>G
|
rs201716473
|
0.00108
|
NM_001267550.2(TTN):c.12986G>A (p.Arg4329Lys)
|
rs199560188
|
0.00108
|
NM_001267550.2(TTN):c.13287T>C (p.Ala4429=)
|
rs370604524
|
0.00108
|
NM_001267550.2(TTN):c.15542G>C (p.Gly5181Ala)
|
rs201185434
|
0.00108
|
NM_001267550.2(TTN):c.16055-9A>C
|
rs368897883
|
0.00108
|
NM_001267550.2(TTN):c.16422A>G (p.Gln5474=)
|
rs371026448
|
0.00108
|
NM_002437.5(MPV17):c.239C>T (p.Thr80Ile)
|
rs35759430
|
0.00108
|
NM_004415.4(DSP):c.2986-6T>A
|
rs144748036
|
0.00108
|
NM_005592.4(MUSK):c.1941C>T (p.Val647=)
|
rs200312379
|
0.00108
|
NM_201384.3(PLEC):c.6438G>A (p.Ala2146=)
|
rs374211586
|
0.00108
|
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
NM_001267550.2(TTN):c.12733A>C (p.Asn4245His)
|
rs199652066
|
0.00107
|
NM_001267550.2(TTN):c.17300G>A (p.Ser5767Asn)
|
rs200692495
|
0.00107
|
NM_001267550.2(TTN):c.41166C>T (p.Asp13722=)
|
rs143049740
|
0.00107
|
NM_001614.5(ACTG1):c.72C>T (p.Asp24=)
|
rs139517777
|
0.00107
|
NM_003322.6(TULP1):c.1486G>A (p.Ala496Thr)
|
rs141980901
|
0.00107
|
NM_003742.4(ABCB11):c.1636C>A (p.Gln546Lys)
|
rs111482608
|
0.00107
|
NM_004565.3(PEX14):c.36+8G>A
|
rs200154696
|
0.00107
|
NM_007294.4(BRCA1):c.765G>A (p.Glu255=)
|
rs62625299
|
0.00107
|
NM_153240.5(NPHP3):c.3664T>C (p.Leu1222=)
|
rs142616619
|
0.00107
|
NM_182961.4(SYNE1):c.18114G>A (p.Ala6038=)
|
rs149923357
|
0.00107
|
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile)
|
rs55933907
|
0.00106
|
NM_000337.6(SGCD):c.144G>C (p.Val48=)
|
rs372152495
|
0.00106
|
NM_001029883.3(PCARE):c.99G>A (p.Gln33=)
|
rs146455733
|
0.00106
|
NM_001193315.2(VIPAS39):c.136G>A (p.Val46Met)
|
rs148360332
|
0.00106
|
NM_001267550.2(TTN):c.41958A>G (p.Ala13986=)
|
rs186699871
|
0.00106
|
NM_002381.5(MATN3):c.1171C>T (p.Arg391Cys)
|
rs146599945
|
0.00106
|
NM_002618.4(PEX13):c.1044T>C (p.Val348=)
|
rs151304822
|
0.00106
|
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=)
|
rs181248369
|
0.00106
|
NM_182961.4(SYNE1):c.21470G>A (p.Arg7157His)
|
rs34963077
|
0.00106
|
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=)
|
rs141671123
|
0.00106
|
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser)
|
rs141440861
|
0.00105
|
NM_001267550.2(TTN):c.61138C>A (p.Leu20380Met)
|
rs201167216
|
0.00105
|
NM_001267550.2(TTN):c.63165G>A (p.Pro21055=)
|
rs72646852
|
0.00105
|
NM_001267550.2(TTN):c.91589C>T (p.Pro30530Leu)
|
rs200875379
|
0.00105
|
NM_001844.5(COL2A1):c.709-8G>T
|
rs200757693
|
0.00105
|
NM_001849.4(COL6A2):c.1070C>G (p.Pro357Arg)
|
rs199929757
|
0.00105
|
NM_002025.4(AFF2):c.3696A>T (p.Pro1232=)
|
rs35967616
|
0.00105
|
NM_005413.4(SIX3):c.219C>T (p.Pro73=)
|
rs186163123
|
0.00105
|
NM_005996.4(TBX3):c.1208G>A (p.Arg403Gln)
|
rs145432134
|
0.00105
|
NM_020754.4(ARHGAP31):c.2359C>G (p.Pro787Ala)
|
rs186621177
|
0.00105
|
NM_182961.4(SYNE1):c.12350C>T (p.Thr4117Met)
|
rs146567178
|
0.00105
|
NM_182961.4(SYNE1):c.13909G>A (p.Asp4637Asn)
|
rs142388112
|
0.00105
|
NM_000271.5(NPC1):c.66A>G (p.Ser22=)
|
rs144415945
|
0.00104
|
NM_001453.3(FOXC1):c.114C>T (p.Thr38=)
|
rs538126253
|
0.00104
|
NM_201384.3(PLEC):c.10203C>T (p.Pro3401=)
|
rs201096903
|
0.00104
|
NM_000543.5(SMPD1):c.1091+9C>T
|
rs143612450
|
0.00103
|
NM_000709.4(BCKDHA):c.15C>T (p.Ile5=)
|
rs17173144
|
0.00103
|
NM_001042432.2(CLN3):c.768C>T (p.Thr256=)
|
rs145967477
|
0.00103
|
NM_001267550.2(TTN):c.20630T>C (p.Ile6877Thr)
|
rs142794598
|
0.00103
|
NM_001267550.2(TTN):c.22692A>T (p.Thr7564=)
|
rs187182557
|
0.00103
|
NM_001267550.2(TTN):c.94283G>A (p.Arg31428His)
|
rs149375775
|
0.00103
|
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=)
|
rs150286673
|
0.00103
|
NM_004380.3(CREBBP):c.7302G>A (p.Thr2434=)
|
rs144609433
|
0.00103
|
NM_005529.7(HSPG2):c.1525C>T (p.His509Tyr)
|
rs142071466
|
0.00103
|
NM_017617.5(NOTCH1):c.2604C>T (p.Val868=)
|
rs115235667
|
0.00103
|
NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His)
|
rs146555195
|
0.00103
|
NM_206933.4(USH2A):c.2256T>C (p.His752=)
|
rs111033281
|
0.00103
|
NM_000554.6(CRX):c.102C>T (p.Ser34=)
|
rs139778328
|
0.00102
|
NM_001267550.2(TTN):c.49998T>C (p.Asn16666=)
|
rs376917681
|
0.00102
|
NM_001377.3(DYNC2H1):c.6918A>G (p.Ser2306=)
|
rs368824340
|
0.00102
|
NM_006486.3(FBLN1):c.1925G>T (p.Arg642Leu)
|
rs143377110
|
0.00102
|
NM_006516.4(SLC2A1):c.507C>T (p.Leu169=)
|
rs115541691
|
0.00102
|
NM_013382.7(POMT2):c.1593G>A (p.Leu531=)
|
rs147934334
|
0.00102
|
NM_014336.5(AIPL1):c.234C>T (p.Ser78=)
|
rs62635774
|
0.00102
|
NM_000100.4(CSTB):c.121G>A (p.Val41Met)
|
rs143153487
|
0.00101
|
NM_000142.5(FGFR3):c.2043G>A (p.Gly681=)
|
rs17883356
|
0.00101
|
NM_000179.3(MSH6):c.984C>T (p.Ser328=)
|
rs138143769
|
0.00101
|
NM_000444.6(PHEX):c.903C>T (p.Asn301=)
|
rs142755818
|
0.00101
|
NM_000489.6(ATRX):c.846C>T (p.Ser282=)
|
rs148015780
|
0.00101
|
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=)
|
rs1800131
|
0.00101
|
NM_001170629.2(CHD8):c.871C>T (p.Leu291Phe)
|
rs192989929
|
0.00101
|
NM_001267550.2(TTN):c.26818G>A (p.Gly8940Ser)
|
rs201005813
|
0.00101
|
NM_001330677.2(TBX15):c.980G>A (p.Arg327His)
|
rs141002143
|
0.00101
|
NM_001377.3(DYNC2H1):c.3744+9C>T
|
rs142483417
|
0.00101
|
NM_001377.3(DYNC2H1):c.6551A>T (p.Asp2184Val)
|
rs201967064
|
0.00101
|
NM_001429.4(EP300):c.6390G>A (p.Met2130Ile)
|
rs147973806
|
0.00101
|
NM_004998.4(MYO1E):c.554A>G (p.Asp185Gly)
|
rs141565214
|
0.00101
|
NM_025219.3(DNAJC5):c.107+10C>T
|
rs181906972
|
0.00101
|
NM_139343.3(BIN1):c.1611C>T (p.Asp537=)
|
rs142523172
|
0.00101
|
NM_182914.3(SYNE2):c.15006C>T (p.Ser5002=)
|
rs143686889
|
0.00101
|
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn)
|
rs142422990
|
0.00101
|
NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala)
|
rs150682764
|
0.00100
|
NM_001304438.2(TMEM132E):c.2300G>A (p.Arg767Gln)
|
rs147570260
|
0.00100
|
NM_001378120.1(MBD5):c.3754-9T>C
|
rs370173652
|
0.00100
|
NM_001384140.1(PCDH15):c.2990A>G (p.Glu997Gly)
|
rs139087859
|
0.00100
|
NM_001429.4(EP300):c.6969C>G (p.Pro2323=)
|
rs111489369
|
0.00100
|
NM_002335.4(LRP5):c.3723A>G (p.Pro1241=)
|
rs139554243
|
0.00100
|
NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=)
|
rs148688181
|
0.00100
|
NM_017780.4(CHD7):c.6660T>G (p.Gly2220=)
|
rs34527521
|
0.00100
|
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe)
|
rs41301343
|
0.00100
|
NM_000535.7(PMS2):c.353+9A>C
|
rs139990791
|
0.00099
|
NM_001029883.3(PCARE):c.3114G>C (p.Val1038=)
|
rs140790266
|
0.00099
|
NM_001077525.3(MTMR14):c.567G>A (p.Thr189=)
|
rs9880613
|
0.00099
|
NM_001079872.2(CUL4B):c.1857C>T (p.Cys619=)
|
rs148700620
|
0.00099
|
NM_001267550.2(TTN):c.96998G>A (p.Arg32333His)
|
rs138846756
|
0.00099
|
NM_002335.4(LRP5):c.2529C>T (p.Asp843=)
|
rs143204891
|
0.00099
|
NM_017534.6(MYH2):c.4379C>G (p.Ala1460Gly)
|
rs148693677
|
0.00099
|
NM_024675.4(PALB2):c.2365C>T (p.Leu789=)
|
rs145805054
|
0.00099
|
NM_153240.5(NPHP3):c.3663C>T (p.Ala1221=)
|
rs112144165
|
0.00099
|
NM_173477.5(USH1G):c.566G>A (p.Arg189Gln)
|
rs201644674
|
0.00099
|
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=)
|
rs142034311
|
0.00098
|
NM_000388.4(CASR):c.6A>C (p.Ala2=)
|
rs112042188
|
0.00098
|
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=)
|
rs200278701
|
0.00098
|
NM_001966.4(EHHADH):c.1864C>T (p.Arg622Cys)
|
rs199916968
|
0.00098
|
NM_002857.4(PEX19):c.459G>A (p.Leu153=)
|
rs78340311
|
0.00098
|
NM_004998.4(MYO1E):c.3146C>A (p.Pro1049His)
|
rs147579391
|
0.00098
|
NM_021625.5(TRPV4):c.854-4G>A
|
rs371733585
|
0.00098
|
NM_201384.3(PLEC):c.9633G>A (p.Pro3211=)
|
rs199870482
|
0.00098
|
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=)
|
rs11571655
|
0.00097
|
NM_001039141.3(TRIOBP):c.4099C>T (p.Arg1367Trp)
|
rs191589773
|
0.00097
|
NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val)
|
rs148727077
|
0.00097
|
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=)
|
rs371480338
|
0.00097
|
NM_001267550.2(TTN):c.25704G>A (p.Arg8568=)
|
rs150544093
|
0.00097
|
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile)
|
rs139192633
|
0.00097
|
NM_001267550.2(TTN):c.74891C>T (p.Pro24964Leu)
|
rs72646899
|
0.00097
|
NM_004281.4(BAG3):c.1436C>T (p.Ala479Val)
|
rs34656239
|
0.00097
|
NM_080916.3(DGUOK):c.142+9C>T
|
rs377000908
|
0.00097
|
NM_170682.4(P2RX2):c.491A>G (p.Gln164Arg)
|
rs142844880
|
0.00097
|
NM_000038.6(APC):c.2262T>G (p.Val754=)
|
rs148987776
|
0.00096
|
NM_000548.5(TSC2):c.262C>T (p.Leu88=)
|
rs45485999
|
0.00096
|
NM_001267550.2(TTN):c.107961T>C (p.His35987=)
|
rs377439315
|
0.00096
|
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu)
|
rs73973139
|
0.00096
|
NM_001267550.2(TTN):c.7961G>A (p.Arg2654Lys)
|
rs147207100
|
0.00096
|
NM_001291867.2(NHS):c.828G>A (p.Glu276=)
|
rs147497359
|
0.00096
|
NM_001611.5(ACP5):c.299G>A (p.Arg100His)
|
rs141651325
|
0.00096
|
NM_001966.4(EHHADH):c.2161A>G (p.Ser721Gly)
|
rs138945273
|
0.00096
|
NM_004369.4(COL6A3):c.7007C>T (p.Pro2336Leu)
|
rs202092407
|
0.00096
|
NM_172107.4(KCNQ2):c.1348G>A (p.Val450Met)
|
rs146492238
|
0.00096
|
NM_182914.3(SYNE2):c.1873C>T (p.His625Tyr)
|
rs192061494
|
0.00096
|
NM_000142.5(FGFR3):c.2149G>A (p.Ala717Thr)
|
rs17882190
|
0.00095
|
NM_007294.4(BRCA1):c.3022A>G (p.Met1008Val)
|
rs56321129
|
0.00095
|
NM_020754.4(ARHGAP31):c.2364A>T (p.Pro788=)
|
rs61746581
|
0.00095
|
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg)
|
rs140100861
|
0.00095
|
NM_000138.5(FBN1):c.6837G>A (p.Gly2279=)
|
rs140584234
|
0.00094
|
NM_001267550.2(TTN):c.101936C>G (p.Pro33979Arg)
|
rs200238877
|
0.00094
|
NM_001267550.2(TTN):c.29079G>A (p.Ala9693=)
|
rs372997298
|
0.00094
|
NM_001354604.2(MITF):c.1280T>C (p.Val427Ala)
|
rs2055006
|
0.00094
|
NM_133379.5(TTN):c.14489A>G (p.Gln4830Arg)
|
rs144905085
|
0.00094
|
NM_201384.3(PLEC):c.11611G>A (p.Gly3871Ser)
|
rs201419047
|
0.00094
|
NM_000631.5(NCF4):c.478G>A (p.Val160Met)
|
rs150103256
|
0.00093
|
NM_001012720.2(RGR):c.318T>C (p.Ser106=)
|
rs143761967
|
0.00093
|
NM_001267550.2(TTN):c.65776G>A (p.Val21926Met)
|
rs145527033
|
0.00093
|
NM_001267550.2(TTN):c.80661C>T (p.Asn26887=)
|
rs201069672
|
0.00093
|
NM_001267550.2(TTN):c.88485C>T (p.Leu29495=)
|
rs371612136
|
0.00093
|
NM_002857.4(PEX19):c.16G>A (p.Glu6Lys)
|
rs145845197
|
0.00093
|
NM_006031.6(PCNT):c.3457A>G (p.Ser1153Gly)
|
rs140424584
|
0.00093
|
NM_006432.5(NPC2):c.363+7G>A
|
rs200463204
|
0.00093
|
NM_014014.5(SNRNP200):c.3005A>G (p.Asn1002Ser)
|
rs143529458
|
0.00093
|
NM_020066.5(FMN2):c.893G>A (p.Gly298Asp)
|
rs556876873
|
0.00093
|
NM_020822.3(KCNT1):c.985C>T (p.Leu329=)
|
rs147165522
|
0.00093
|
NM_021625.5(TRPV4):c.1284G>A (p.Gly428=)
|
rs150773110
|
0.00093
|
NM_000137.4(FAH):c.1205G>A (p.Arg402His)
|
rs147796599
|
0.00092
|
NM_000214.3(JAG1):c.1578C>T (p.Ile526=)
|
rs1801139
|
0.00092
|
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His)
|
rs142723249
|
0.00092
|
NM_001267550.2(TTN):c.95582A>G (p.Tyr31861Cys)
|
rs59148238
|
0.00092
|
NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=)
|
rs147318592
|
0.00092
|
NM_001379081.2(FREM1):c.3147C>T (p.Ser1049=)
|
rs200894045
|
0.00092
|
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val)
|
rs200663107
|
0.00092
|
NM_022356.4(P3H1):c.1529A>G (p.Asn510Ser)
|
rs149894086
|
0.00092
|
NM_022437.3(ABCG8):c.1656G>A (p.Leu552=)
|
rs145341486
|
0.00092
|
NM_024757.5(EHMT1):c.737G>A (p.Arg246Gln)
|
rs144871446
|
0.00092
|
NM_032119.4(ADGRV1):c.8172C>T (p.Phe2724=)
|
rs371019516
|
0.00092
|
NM_000138.5(FBN1):c.783T>C (p.Asn261=)
|
rs113721547
|
0.00091
|
NM_001267550.2(TTN):c.107766T>C (p.Gly35922=)
|
rs147293964
|
0.00091
|
NM_001267550.2(TTN):c.58419A>G (p.Gln19473=)
|
rs186563991
|
0.00091
|
NM_001966.4(EHHADH):c.450C>T (p.Asp150=)
|
rs116162834
|
0.00091
|
NM_019066.5(MAGEL2):c.639A>C (p.Pro213=)
|
rs886042708
|
0.00091
|
NM_000260.4(MYO7A):c.1554+7C>T
|
rs150114658
|
0.00090
|
NM_001123385.2(BCOR):c.3413T>C (p.Val1138Ala)
|
rs145327925
|
0.00090
|
NM_001267550.2(TTN):c.105228G>A (p.Ser35076=)
|
rs55938627
|
0.00090
|
NM_001267550.2(TTN):c.96098G>A (p.Arg32033His)
|
rs200648462
|
0.00090
|
NM_001793.6(CDH3):c.345T>C (p.Ser115=)
|
rs138829996
|
0.00090
|
NM_001844.5(COL2A1):c.2831C>T (p.Pro944Leu)
|
rs140368756
|
0.00090
|
NM_002206.3(ITGA7):c.1008C>T (p.Asp336=)
|
rs145114073
|
0.00090
|
NM_000747.3(CHRNB1):c.611-9C>T
|
rs538827412
|
0.00089
|
NM_001128178.3(NPHP1):c.1269+9G>A
|
rs13414551
|
0.00089
|
NM_001267550.2(TTN):c.15906C>T (p.Val5302=)
|
rs375179152
|
0.00089
|
NM_001267550.2(TTN):c.48451A>G (p.Thr16151Ala)
|
rs186497293
|
0.00089
|
NM_001291867.2(NHS):c.2330T>C (p.Phe777Ser)
|
rs143081492
|
0.00089
|
NM_001378615.1(CC2D2A):c.1162G>A (p.Val388Ile)
|
rs115924432
|
0.00089
|
NM_001844.5(COL2A1):c.2095-4G>A
|
rs111570218
|
0.00089
|
NM_004329.3(BMPR1A):c.1395G>C (p.Pro465=)
|
rs55845713
|
0.00089
|
NM_014319.5(LEMD3):c.1746C>T (p.Ile582=)
|
rs140496862
|
0.00089
|
NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln)
|
rs142890313
|
0.00089
|
NM_133379.5(TTN):c.13045C>A (p.Pro4349Thr)
|
rs140064945
|
0.00089
|
NM_172107.4(KCNQ2):c.2264A>G (p.Tyr755Cys)
|
rs3746366
|
0.00089
|
NM_001256789.3(CACNA1F):c.5577C>T (p.Gly1859=)
|
rs141521080
|
0.00088
|
NM_001267550.2(TTN):c.18531G>C (p.Val6177=)
|
rs370684491
|
0.00088
|
NM_001267550.2(TTN):c.32462C>T (p.Pro10821Leu)
|
rs146400809
|
0.00088
|
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=)
|
rs35079638
|
0.00088
|
NM_020822.3(KCNT1):c.3157-8C>T
|
rs371874401
|
0.00088
|
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn)
|
rs41294980
|
0.00087
|
NM_001127644.2(GABRA1):c.27C>A (p.Asp9Glu)
|
rs113886269
|
0.00087
|
NM_001267550.2(TTN):c.95205C>T (p.Asp31735=)
|
rs373182578
|
0.00087
|
NM_001614.5(ACTG1):c.39C>T (p.Gly13=)
|
rs146865914
|
0.00087
|
NM_002880.4(RAF1):c.581+4A>G
|
rs201776526
|
0.00087
|
NM_006129.5(BMP1):c.2108-598G>A
|
rs369901025
|
0.00087
|
NM_020822.3(KCNT1):c.2994G>A (p.Leu998=)
|
rs143198263
|
0.00087
|
NM_020822.3(KCNT1):c.854+10G>A
|
rs146470183
|
0.00087
|
NM_000264.5(PTCH1):c.4048C>T (p.Arg1350Trp)
|
rs140417636
|
0.00086
|
NM_000343.4(SLC5A1):c.35C>T (p.Ala12Val)
|
rs150288967
|
0.00086
|
NM_000548.5(TSC2):c.2784C>T (p.Pro928=)
|
rs45517267
|
0.00086
|
NM_001267550.2(TTN):c.70250T>C (p.Ile23417Thr)
|
rs201836227
|
0.00086
|
NM_001267550.2(TTN):c.95244C>T (p.Arg31748=)
|
rs368243641
|
0.00086
|
NM_001291867.2(NHS):c.4832G>C (p.Ser1611Thr)
|
rs140651691
|
0.00086
|
NM_001844.5(COL2A1):c.507C>T (p.Pro169=)
|
rs143851987
|
0.00086
|
NM_003742.4(ABCB11):c.2985G>A (p.Ala995=)
|
rs113923887
|
0.00086
|
NM_003742.4(ABCB11):c.3435A>G (p.Lys1145=)
|
rs11568366
|
0.00086
|
NM_182914.3(SYNE2):c.13850C>T (p.Thr4617Ile)
|
rs148582250
|
0.00086
|
NM_182914.3(SYNE2):c.14792A>G (p.Lys4931Arg)
|
rs147640636
|
0.00086
|
NM_182914.3(SYNE2):c.15248A>G (p.Asp5083Gly)
|
rs149617373
|
0.00086
|
NM_201384.3(PLEC):c.6456G>A (p.Ala2152=)
|
rs201072292
|
0.00086
|
NM_000553.6(WRN):c.720T>G (p.Asn240Lys)
|
rs148229804
|
0.00085
|
NM_002693.3(POLG):c.2165G>A (p.Arg722His)
|
rs185645212
|
0.00085
|
NM_003482.4(KMT2D):c.7478G>A (p.Gly2493Glu)
|
rs833819
|
0.00085
|
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe)
|
rs145393807
|
0.00085
|
NM_014319.5(LEMD3):c.907G>T (p.Gly303Cys)
|
rs35221558
|
0.00085
|
NM_017433.5(MYO3A):c.177C>T (p.Asp59=)
|
rs139958275
|
0.00085
|
NM_024408.4(NOTCH2):c.4897G>A (p.Val1633Ile)
|
rs116321057
|
0.00085
|
NM_058246.4(DNAJB6):c.429G>C (p.Ala143=)
|
rs150709673
|
0.00085
|
NM_153240.5(NPHP3):c.105G>A (p.Lys35=)
|
rs377060857
|
0.00085
|
NM_201384.3(PLEC):c.4860C>T (p.Ala1620=)
|
rs144880376
|
0.00085
|
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu)
|
rs79137415
|
0.00084
|
NM_001165963.4(SCN1A):c.3101T>C (p.Ile1034Thr)
|
rs121918818
|
0.00084
|
NM_005633.4(SOS1):c.2238T>C (p.Asn746=)
|
rs75877625
|
0.00084
|
NM_017433.5(MYO3A):c.2214T>C (p.Asn738=)
|
rs34803755
|
0.00084
|
NM_201384.3(PLEC):c.5471C>T (p.Ala1824Val)
|
rs542642242
|
0.00084
|
NM_000071.3(CBS):c.1257G>A (p.Leu419=)
|
rs138432416
|
0.00083
|
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)
|
rs111033243
|
0.00083
|
NM_000548.5(TSC2):c.2979G>A (p.Thr993=)
|
rs45517277
|
0.00083
|
NM_001127649.3(PEX26):c.728C>T (p.Ala243Val)
|
rs149153003
|
0.00083
|
NM_001267550.2(TTN):c.25223C>T (p.Thr8408Ile)
|
rs201432372
|
0.00083
|
NM_001267550.2(TTN):c.88340C>G (p.Thr29447Arg)
|
rs140201636
|
0.00083
|
NM_002181.4(IHH):c.858G>A (p.Pro286=)
|
rs146055831
|
0.00083
|
NM_002691.4(POLD1):c.612C>T (p.His204=)
|
rs147881471
|
0.00083
|
NM_004586.3(RPS6KA3):c.244-5T>C
|
rs192189478
|
0.00083
|
NM_005477.3(HCN4):c.1653C>A (p.Ile551=)
|
rs141966309
|
0.00083
|
NM_006486.3(FBLN1):c.1662C>T (p.Phe554=)
|
rs138534271
|
0.00083
|
NM_014874.4(MFN2):c.1452G>A (p.Thr484=)
|
rs150043585
|
0.00083
|
NM_147127.5(EVC2):c.904T>A (p.Phe302Ile)
|
rs138728350
|
0.00083
|
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser)
|
rs150367317
|
0.00083
|
NM_175875.5(SIX5):c.549G>A (p.Val183=)
|
rs143904307
|
0.00083
|
NM_000744.7(CHRNA4):c.1053C>T (p.Ile351=)
|
rs61737042
|
0.00082
|
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=)
|
rs145690047
|
0.00082
|
NM_001277313.2(FMN1):c.2314G>A (p.Glu772Lys)
|
rs144234543
|
0.00082
|
NM_001853.4(COL9A3):c.255+8C>T
|
rs141737082
|
0.00082
|
NM_003073.5(SMARCB1):c.267C>T (p.Thr89=)
|
rs141275968
|
0.00082
|
NM_005633.4(SOS1):c.73C>T (p.Pro25Ser)
|
rs139592595
|
0.00082
|
NM_012188.5(FOXI1):c.1018C>G (p.Pro340Ala)
|
rs141924917
|
0.00082
|
NM_182961.4(SYNE1):c.21486C>T (p.Ser7162=)
|
rs139078338
|
0.00082
|
NM_207361.6(FREM2):c.8100T>G (p.Leu2700=)
|
rs141834289
|
0.00082
|
NM_000095.3(COMP):c.1488C>A (p.Asp496Glu)
|
rs143714206
|
0.00081
|
NM_000214.3(JAG1):c.439+10G>A
|
rs201371037
|
0.00081
|
NM_001032221.6(STXBP1):c.1702+10C>T
|
rs147607230
|
0.00081
|
NM_001130987.2(DYSF):c.3756+9G>T
|
rs191746041
|
0.00081
|
NM_001267550.2(TTN):c.20236G>A (p.Ala6746Thr)
|
rs202108224
|
0.00081
|
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=)
|
rs193022702
|
0.00081
|
NM_001377299.1(NDUFS2):c.959T>C (p.Val320Ala)
|
rs144937332
|
0.00081
|
NM_001848.3(COL6A1):c.2642C>T (p.Thr881Met)
|
rs150432347
|
0.00081
|
NM_004530.6(MMP2):c.496G>A (p.Glu166Lys)
|
rs147947052
|
0.00081
|
NM_005751.5(AKAP9):c.1651A>G (p.Ile551Val)
|
rs140664656
|
0.00081
|
NM_007325.5(GRIA3):c.397G>A (p.Ala133Thr)
|
rs151086692
|
0.00081
|
NM_014714.4(IFT140):c.758G>A (p.Arg253Gln)
|
rs141993139
|
0.00081
|
NM_020822.3(KCNT1):c.3606C>T (p.Asp1202=)
|
rs140628824
|
0.00081
|
NM_023036.6(DNAI2):c.1715C>T (p.Pro572Leu)
|
rs151241589
|
0.00081
|
NM_032578.4(MYPN):c.1293C>A (p.Ile431=)
|
rs147184158
|
0.00081
|
NM_201384.3(PLEC):c.8331C>T (p.Tyr2777=)
|
rs141673192
|
0.00081
|
NM_001130987.2(DYSF):c.4694A>C (p.Lys1565Thr)
|
rs76086153
|
0.00080
|
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)
|
rs35818432
|
0.00080
|
NM_000051.4(ATM):c.3517T>C (p.Leu1173=)
|
rs141460670
|
0.00079
|
NM_000051.4(ATM):c.7928-10T>C
|
rs188404773
|
0.00079
|
NM_000287.4(PEX6):c.1491C>T (p.Ser497=)
|
rs79238506
|
0.00079
|
NM_001267550.2(TTN):c.20025C>A (p.Ala6675=)
|
rs373842558
|
0.00079
|
NM_001267550.2(TTN):c.45174C>T (p.Gly15058=)
|
rs372609980
|
0.00079
|
NM_001267550.2(TTN):c.88476C>G (p.Thr29492=)
|
rs190406444
|
0.00079
|
NM_001291415.2(KDM6A):c.1907C>T (p.Thr636Met)
|
rs141353229
|
0.00079
|
NM_018136.5(ASPM):c.9911G>A (p.Arg3304Gln)
|
rs149859034
|
0.00079
|
NM_020975.6(RET):c.1119G>A (p.Ala373=)
|
rs113931414
|
0.00079
|
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser)
|
rs144222167
|
0.00078
|
NM_000117.3(EMD):c.466G>A (p.Gly156Ser)
|
rs144594695
|
0.00078
|
NM_000203.5(IDUA):c.234C>T (p.Gly78=)
|
rs138932617
|
0.00078
|
NM_000217.3(KCNA1):c.1327C>G (p.Arg443Gly)
|
rs150849316
|
0.00078
|
NM_000297.4(PKD2):c.784G>A (p.Val262Met)
|
rs138132026
|
0.00078
|
NM_001032221.6(STXBP1):c.6C>T (p.Ala2=)
|
rs144094037
|
0.00078
|
NM_001038.6(SCNN1A):c.1484C>T (p.Ser495Leu)
|
rs148749888
|
0.00078
|
NM_001267550.2(TTN):c.54812-5A>G
|
rs375343798
|
0.00078
|
NM_001267550.2(TTN):c.98683+7G>C
|
rs141150066
|
0.00078
|
NM_001360.3(DHCR7):c.1012G>A (p.Val338Met)
|
rs72954276
|
0.00078
|
NM_002693.3(POLG):c.2853C>T (p.Tyr951=)
|
rs41546712
|
0.00078
|
NM_006005.3(WFS1):c.1143G>A (p.Leu381=)
|
rs151153967
|
0.00078
|
NM_017780.4(CHD7):c.7165-5A>G
|
rs376076407
|
0.00078
|
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)
|
rs181255269
|
0.00078
|
NM_000156.6(GAMT):c.581T>C (p.Val194Ala)
|
rs147739199
|
0.00077
|
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=)
|
rs35282988
|
0.00077
|
NM_001077365.2(POMT1):c.986+9A>G
|
rs202095070
|
0.00077
|
NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser)
|
rs199422321
|
0.00077
|
NM_001267550.2(TTN):c.10088G>A (p.Arg3363His)
|
rs148169214
|
0.00077
|
NM_001277313.2(FMN1):c.2044-1437T>C
|
rs200868344
|
0.00077
|
NM_001365536.1(SCN9A):c.3020G>A (p.Arg1007His)
|
rs188145203
|
0.00077
|
NM_001374385.1(ATP8B1):c.1072G>A (p.Gly358Ser)
|
rs193204986
|
0.00077
|
NM_004369.4(COL6A3):c.4117G>A (p.Ala1373Thr)
|
rs112181324
|
0.00077
|
NM_201384.3(PLEC):c.8976C>T (p.Ile2992=)
|
rs375914011
|
0.00077
|
NM_000168.6(GLI3):c.4005G>A (p.Pro1335=)
|
rs149860242
|
0.00076
|
NM_000548.5(TSC2):c.628G>A (p.Ala210Thr)
|
rs147196739
|
0.00076
|
NM_001267550.2(TTN):c.15860C>T (p.Thr5287Met)
|
rs148551876
|
0.00076
|
NM_001267550.2(TTN):c.27702T>C (p.Ile9234=)
|
rs143368674
|
0.00076
|
NM_001267550.2(TTN):c.63942G>A (p.Ser21314=)
|
rs201285872
|
0.00076
|
NM_003482.4(KMT2D):c.3572C>T (p.Pro1191Leu)
|
rs112236653
|
0.00076
|
NM_004369.4(COL6A3):c.1024G>A (p.Val342Met)
|
rs111402193
|
0.00076
|
NM_005477.3(HCN4):c.1703G>C (p.Ser568Thr)
|
rs138714806
|
0.00076
|
NM_000117.3(EMD):c.495G>A (p.Thr165=)
|
rs151074632
|
0.00075
|
NM_001110556.2(FLNA):c.3064C>G (p.Pro1022Ala)
|
rs200150148
|
0.00075
|
NM_001267550.2(TTN):c.21555C>A (p.Ile7185=)
|
rs201155967
|
0.00075
|
NM_001297.5(CNGB1):c.3135C>T (p.Asn1045=)
|
rs539304668
|
0.00075
|
NM_002025.4(AFF2):c.1858A>G (p.Thr620Ala)
|
rs143923852
|
0.00075
|
NM_002206.3(ITGA7):c.1659C>G (p.Pro553=)
|
rs144052152
|
0.00075
|
NM_002618.4(PEX13):c.141A>G (p.Ala47=)
|
rs79842991
|
0.00075
|
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr)
|
rs190023981
|
0.00075
|
NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro)
|
rs754894988
|
0.00075
|
NM_001159699.2(FHL1):c.786C>T (p.His262=)
|
rs141231353
|
0.00074
|
NM_001184880.2(PCDH19):c.3235C>G (p.Pro1079Ala)
|
rs200854927
|
0.00074
|
NM_001267550.2(TTN):c.54903C>G (p.Gly18301=)
|
rs190830121
|
0.00074
|
NM_001267550.2(TTN):c.55929A>G (p.Gln18643=)
|
rs151335428
|
0.00074
|
NM_001291867.2(NHS):c.3929G>T (p.Gly1310Val)
|
rs41304731
|
0.00074
|
NM_003049.4(SLC10A1):c.263T>C (p.Ile88Thr)
|
rs148467625
|
0.00074
|
NM_004393.6(DAG1):c.2520T>C (p.Thr840=)
|
rs149564053
|
0.00074
|
NM_152594.3(SPRED1):c.702C>G (p.Ile234Met)
|
rs138553244
|
0.00074
|
NM_201384.3(PLEC):c.2263G>A (p.Ala755Thr)
|
rs200173947
|
0.00074
|
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=)
|
rs117672175
|
0.00073
|
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met)
|
rs45517238
|
0.00073
|
NM_000742.4(CHRNA2):c.684C>T (p.Ser228=)
|
rs143536618
|
0.00073
|
NM_001165963.4(SCN1A):c.3948G>A (p.Arg1316=)
|
rs149579028
|
0.00073
|
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly)
|
rs121917956
|
0.00073
|
NM_001267550.2(TTN):c.86434A>G (p.Ile28812Val)
|
rs201918596
|
0.00073
|
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr)
|
rs72648227
|
0.00073
|
NM_001374353.1(GLI2):c.3979C>T (p.Leu1327=)
|
rs149290823
|
0.00073
|
NM_003119.4(SPG7):c.1324+10C>T
|
rs202070075
|
0.00073
|
NM_004525.3(LRP2):c.3311A>G (p.His1104Arg)
|
rs144906000
|
0.00073
|
NM_004586.3(RPS6KA3):c.1884A>T (p.Glu628Asp)
|
rs150107747
|
0.00073
|
NM_005422.4(TECTA):c.2604G>T (p.Thr868=)
|
rs139509847
|
0.00073
|
NM_005445.4(SMC3):c.276T>C (p.Asp92=)
|
rs199936534
|
0.00073
|
NM_000554.6(CRX):c.618C>T (p.Ser206=)
|
rs145117150
|
0.00072
|
NM_001164508.2(NEB):c.22005G>A (p.Thr7335=)
|
rs201400523
|
0.00072
|
NM_001367721.1(CASK):c.1794C>T (p.Asn598=)
|
rs143991107
|
0.00072
|
NM_006922.4(SCN3A):c.2304T>C (p.Ile768=)
|
rs72870766
|
0.00072
|
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=)
|
rs139436386
|
0.00072
|
NM_201384.3(PLEC):c.1158C>G (p.Ser386Arg)
|
rs201667254
|
0.00072
|
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)
|
rs2235006
|
0.00071
|
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr)
|
rs45517203
|
0.00071
|
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=)
|
rs147143094
|
0.00071
|
NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp)
|
rs148541407
|
0.00071
|
NM_001267550.2(TTN):c.106578T>A (p.Ser35526=)
|
rs55838839
|
0.00071
|
NM_004006.3(DMD):c.4093C>T (p.Leu1365Phe)
|
rs148781346
|
0.00071
|
NM_004385.5(VCAN):c.3713G>C (p.Arg1238Thr)
|
rs146560021
|
0.00071
|
NM_133379.5(TTN):c.11075G>C (p.Ser3692Thr)
|
rs147314430
|
0.00071
|
NM_138694.4(PKHD1):c.3365-32T>A
|
rs139697312
|
0.00071
|
NM_000368.5(TSC1):c.273G>A (p.Ser91=)
|
rs115097221
|
0.00070
|
NM_000543.5(SMPD1):c.1598C>T (p.Pro533Leu)
|
rs199915216
|
0.00070
|
NM_004380.3(CREBBP):c.3698+7G>A
|
rs374345970
|
0.00070
|
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln)
|
rs147809756
|
0.00069
|
NM_001127222.2(CACNA1A):c.1083-4C>G
|
rs201056216
|
0.00069
|
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=)
|
rs200173934
|
0.00069
|
NM_001291867.2(NHS):c.1965T>G (p.Pro655=)
|
rs151009077
|
0.00069
|
NM_002225.5(IVD):c.891G>A (p.Ala297=)
|
rs138427412
|
0.00069
|
NM_004006.3(DMD):c.4125T>C (p.Thr1375=)
|
rs144329742
|
0.00069
|
NM_000443.4(ABCB4):c.696C>T (p.Ala232=)
|
rs8187791
|
0.00068
|
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr)
|
rs137854154
|
0.00068
|
NM_001267550.2(TTN):c.106920G>A (p.Leu35640=)
|
rs183923129
|
0.00068
|
NM_001347721.2(DYRK1A):c.1644+73C>A
|
rs200322053
|
0.00068
|
NM_006005.3(WFS1):c.2233G>A (p.Gly745Ser)
|
rs139185707
|
0.00068
|
NM_017534.6(MYH2):c.4774C>A (p.Leu1592Met)
|
rs138393827
|
0.00068
|
NM_018006.5(TRMU):c.900G>T (p.Leu300=)
|
rs113846383
|
0.00068
|
NM_025132.4(WDR19):c.2671C>T (p.His891Tyr)
|
rs200266424
|
0.00068
|
NM_058246.4(DNAJB6):c.417G>A (p.Ser139=)
|
rs143051731
|
0.00068
|
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu)
|
rs145890213
|
0.00068
|
NM_170784.3(MKKS):c.67A>G (p.Arg23Gly)
|
rs147545395
|
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_000287.4(PEX6):c.853C>G (p.Pro285Ala)
|
rs61753220
|
0.00067
|
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val)
|
rs45517171
|
0.00067
|
NM_001083962.2(TCF4):c.269A>G (p.Asn90Ser)
|
rs143244149
|
0.00067
|
NM_001130823.3(DNMT1):c.2472G>A (p.Thr824=)
|
rs45484792
|
0.00067
|
NM_001159699.2(FHL1):c.114G>A (p.Lys38=)
|
rs140149764
|
0.00067
|
NM_001292063.2(OTOG):c.4627G>A (p.Ala1543Thr)
|
rs545740473
|
0.00067
|
NM_001844.5(COL2A1):c.3384C>T (p.Gly1128=)
|
rs145884117
|
0.00067
|
NM_001851.6(COL9A1):c.1053G>A (p.Ser351=)
|
rs75433477
|
0.00067
|
NM_005220.3(DLX3):c.832G>A (p.Gly278Arg)
|
rs151180891
|
0.00067
|
NM_015102.5(NPHP4):c.2458C>T (p.Arg820Trp)
|
rs200182705
|
0.00067
|
NM_017841.4(SDHAF2):c.319C>T (p.Arg107Cys)
|
rs140191819
|
0.00067
|
NM_000059.4(BRCA2):c.-15A>C
|
rs138705202
|
0.00066
|
NM_000179.3(MSH6):c.1665A>G (p.Ala555=)
|
rs146785465
|
0.00066
|
NM_001082538.3(TCTN1):c.488C>A (p.Ser163Tyr)
|
rs117896500
|
0.00066
|
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met)
|
rs72648237
|
0.00066
|
NM_004006.3(DMD):c.4233+2C>T
|
rs147474070
|
0.00066
|
NM_004055.5(CAPN5):c.52C>T (p.Arg18Trp)
|
rs149132399
|
0.00066
|
NM_004098.4(EMX2):c.105A>T (p.Ala35=)
|
rs373030604
|
0.00066
|
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=)
|
rs1800740
|
0.00066
|
NM_153240.5(NPHP3):c.2769C>T (p.Phe923=)
|
rs116174472
|
0.00066
|
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn)
|
rs138874610
|
0.00065
|
NM_001267550.2(TTN):c.63879C>T (p.Asp21293=)
|
rs200463088
|
0.00065
|
NM_001378454.1(ALMS1):c.3942A>C (p.Ser1314=)
|
rs186449817
|
0.00065
|
NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=)
|
rs146879902
|
0.00065
|
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile)
|
rs1800704
|
0.00065
|
NM_007294.4(BRCA1):c.981A>G (p.Thr327=)
|
rs1800063
|
0.00065
|
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser)
|
rs147936946
|
0.00064
|
NM_001267550.2(TTN):c.96918C>T (p.Ile32306=)
|
rs72648266
|
0.00064
|
NM_004260.4(RECQL4):c.1621-8A>G
|
rs373357384
|
0.00064
|
NM_004369.4(COL6A3):c.9245C>G (p.Pro3082Arg)
|
rs182976977
|
0.00064
|
NM_004380.3(CREBBP):c.4494A>G (p.Arg1498=)
|
rs149560660
|
0.00064
|
NM_133433.4(NIPBL):c.2727T>C (p.Gly909=)
|
rs148394805
|
0.00064
|
NM_000318.3(PEX2):c.237A>G (p.Ser79=)
|
rs138220337
|
0.00063
|
NM_000719.7(CACNA1C):c.5451C>T (p.His1817=)
|
rs113239186
|
0.00063
|
NM_001127649.3(PEX26):c.643G>A (p.Glu215Lys)
|
rs138232280
|
0.00063
|
NM_001199397.3(NEK1):c.2137G>A (p.Val713Met)
|
rs199827465
|
0.00063
|
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr)
|
rs72629793
|
0.00063
|
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=)
|
rs72646848
|
0.00063
|
NM_002047.4(GARS1):c.699C>T (p.Val233=)
|
rs187937286
|
0.00063
|
NM_004006.3(DMD):c.8308G>A (p.Asp2770Asn)
|
rs138399787
|
0.00063
|
NM_005629.4(SLC6A8):c.777+4C>T
|
rs201581661
|
0.00063
|
NM_006005.3(WFS1):c.1779G>C (p.Glu593Asp)
|
rs144783536
|
0.00063
|
NM_018100.4(EFHC1):c.64-5T>C
|
rs201860746
|
0.00063
|
NM_030665.4(RAI1):c.3650G>A (p.Arg1217Gln)
|
rs142415050
|
0.00063
|
NM_182961.4(SYNE1):c.14769A>G (p.Glu4923=)
|
rs141057568
|
0.00063
|
NM_201384.3(PLEC):c.5065C>T (p.Leu1689=)
|
rs371126082
|
0.00063
|
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp)
|
rs139544114
|
0.00062
|
NM_001110556.2(FLNA):c.651C>T (p.Asp217=)
|
rs34644500
|
0.00062
|
NM_001165963.4(SCN1A):c.2421C>T (p.Phe807=)
|
rs145101180
|
0.00062
|
NM_003659.4(AGPS):c.1380A>C (p.Pro460=)
|
rs148418568
|
0.00062
|
NM_004006.3(DMD):c.1028G>A (p.Arg343His)
|
rs61733589
|
0.00062
|
NM_032119.4(ADGRV1):c.1131T>G (p.Ser377=)
|
rs200435877
|
0.00062
|
NM_201384.3(PLEC):c.7951C>T (p.Arg2651Trp)
|
rs145977158
|
0.00062
|
NM_000168.6(GLI3):c.2006C>T (p.Thr669Ile)
|
rs139108417
|
0.00061
|
NM_001244008.2(KIF1A):c.4749C>T (p.Ser1583=)
|
rs371737085
|
0.00061
|
NM_001267550.2(TTN):c.17115C>T (p.Gly5705=)
|
rs370036981
|
0.00061
|
NM_001267550.2(TTN):c.75738A>G (p.Glu25246=)
|
rs371344165
|
0.00061
|
NM_001365536.1(SCN9A):c.4315G>A (p.Val1439Ile)
|
rs149346064
|
0.00061
|
NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys)
|
rs140512665
|
0.00061
|
NM_014918.5(CHSY1):c.1218C>T (p.Asp406=)
|
rs113219895
|
0.00061
|
NM_031220.4(PITPNM3):c.216C>T (p.Asp72=)
|
rs61755429
|
0.00061
|
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys)
|
rs185678374
|
0.00061
|
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser)
|
rs200204857
|
0.00061
|
NM_182961.4(SYNE1):c.21414C>T (p.Ala7138=)
|
rs144904215
|
0.00061
|
NM_001077365.2(POMT1):c.700-28A>G
|
rs187996836
|
0.00060
|
NM_001267550.2(TTN):c.59322A>G (p.Pro19774=)
|
rs188063446
|
0.00060
|
NM_017780.4(CHD7):c.2835+8T>C
|
rs202141372
|
0.00060
|
NM_020549.5(CHAT):c.327G>A (p.Thr109=)
|
rs79914771
|
0.00060
|
NM_022437.3(ABCG8):c.576C>T (p.Ile192=)
|
rs148058949
|
0.00060
|
NM_024301.5(FKRP):c.636G>A (p.Ala212=)
|
rs370099812
|
0.00060
|
NM_030665.4(RAI1):c.303C>T (p.Gly101=)
|
rs143836684
|
0.00060
|
NM_172364.5(CACNA2D4):c.2649C>T (p.Cys883=)
|
rs184770223
|
0.00060
|
NM_000059.4(BRCA2):c.10121C>T (p.Thr3374Ile)
|
rs56309455
|
0.00059
|
NM_000059.4(BRCA2):c.4071A>C (p.Leu1357=)
|
rs140556653
|
0.00059
|
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)
|
rs143486492
|
0.00059
|
NM_001267550.2(TTN):c.77205G>A (p.Val25735=)
|
rs55857909
|
0.00059
|
NM_001267550.2(TTN):c.78147A>G (p.Gln26049=)
|
rs149127072
|
0.00059
|
NM_001267550.2(TTN):c.82797C>T (p.Gly27599=)
|
rs72648216
|
0.00059
|
NM_001384910.1(GUCA1A):c.600C>T (p.Ala200=)
|
rs149482975
|
0.00059
|
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp)
|
rs111033222
|
0.00059
|
NM_005476.7(GNE):c.1245C>T (p.Gly415=)
|
rs140784655
|
0.00059
|
NM_133379.5(TTN):c.10920T>C (p.Ser3640=)
|
rs142585268
|
0.00059
|
NM_000093.5(COL5A1):c.996C>T (p.Asp332=)
|
rs144763302
|
0.00058
|
NM_000208.4(INSR):c.2295C>T (p.Gly765=)
|
rs142654992
|
0.00058
|
NM_000257.4(MYH7):c.2514G>A (p.Pro838=)
|
rs45560638
|
0.00058
|
NM_000540.3(RYR1):c.2682+7G>A
|
rs201498416
|
0.00058
|
NM_000748.3(CHRNB2):c.1482A>G (p.Ser494=)
|
rs8192486
|
0.00058
|
NM_002968.3(SALL1):c.1903C>T (p.Pro635Ser)
|
rs61731136
|
0.00058
|
NM_014319.5(LEMD3):c.2331A>C (p.Ser777=)
|
rs146896083
|
0.00058
|
NM_014491.4(FOXP2):c.1843G>A (p.Ala615Thr)
|
rs182138317
|
0.00058
|
NM_182961.4(SYNE1):c.5807A>G (p.His1936Arg)
|
rs112744561
|
0.00058
|
NM_000093.5(COL5A1):c.2096C>T (p.Thr699Met)
|
rs142313124
|
0.00057
|
NM_000152.5(GAA):c.1343G>C (p.Ser448Thr)
|
rs145712232
|
0.00057
|
NM_000180.4(GUCY2D):c.1537C>T (p.Leu513Phe)
|
rs61749682
|
0.00057
|
NM_001110556.2(FLNA):c.7756+8A>G
|
rs201663443
|
0.00057
|
NM_001127222.2(CACNA1A):c.3409C>G (p.Pro1137Ala)
|
rs199793367
|
0.00057
|
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile)
|
rs147056383
|
0.00057
|
NM_003482.4(KMT2D):c.1965C>A (p.Pro655=)
|
rs200939188
|
0.00057
|
NM_004369.4(COL6A3):c.292A>T (p.Thr98Ser)
|
rs76646066
|
0.00057
|
NM_005249.5(FOXG1):c.206C>A (p.Pro69Gln)
|
rs727503933
|
0.00057
|
NM_020686.6(ABAT):c.267C>T (p.Asp89=)
|
rs199666932
|
0.00057
|
NM_030665.4(RAI1):c.3318C>A (p.Ala1106=)
|
rs34206150
|
0.00057
|
NM_030665.4(RAI1):c.5253C>T (p.Ala1751=)
|
rs34383407
|
0.00057
|
NM_000059.4(BRCA2):c.2145A>G (p.Gly715=)
|
rs112566179
|
0.00056
|
NM_001267550.2(TTN):c.58155C>A (p.Pro19385=)
|
rs373587801
|
0.00056
|
NM_002474.3(MYH11):c.2649G>A (p.Ser883=)
|
rs150943863
|
0.00056
|
NM_013382.7(POMT2):c.1537A>G (p.Asn513Asp)
|
rs117173425
|
0.00056
|
NM_018451.5(CENPJ):c.2462C>T (p.Thr821Met)
|
rs144938364
|
0.00056
|
NM_206933.4(USH2A):c.4758+3A>G
|
rs117798425
|
0.00056
|
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp)
|
rs144825021
|
0.00055
|
NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=)
|
rs143475751
|
0.00055
|
NM_001130987.2(DYSF):c.4627G>A (p.Val1543Ile)
|
rs143895253
|
0.00055
|
NM_001267550.2(TTN):c.44548+9A>G
|
rs372725070
|
0.00055
|
NM_001291867.2(NHS):c.666C>T (p.Cys222=)
|
rs138104885
|
0.00055
|
NM_017780.4(CHD7):c.5300+8C>T
|
rs151322460
|
0.00055
|
NM_080680.3(COL11A2):c.4884G>C (p.Glu1628Asp)
|
rs2229790
|
0.00055
|
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg)
|
rs28897712
|
0.00054
|
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn)
|
rs28897716
|
0.00054
|
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly)
|
rs143166100
|
0.00054
|
NM_001876.4(CPT1A):c.2142+8C>T
|
rs147563740
|
0.00054
|
NM_001943.5(DSG2):c.*2C>T
|
rs183494886
|
0.00054
|
NM_004006.3(DMD):c.3020C>T (p.Ser1007Leu)
|
rs144732570
|
0.00054
|
NM_004006.3(DMD):c.5203C>T (p.Arg1735Cys)
|
rs147904018
|
0.00054
|
NM_006269.2(RP1):c.5624G>C (p.Gly1875Ala)
|
rs150728667
|
0.00054
|
NM_014008.5(CCDC22):c.962G>A (p.Arg321Gln)
|
rs140735182
|
0.00054
|
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)
|
rs201988582
|
0.00054
|
NM_170699.3(GPBAR1):c.903G>A (p.Gly301=)
|
rs200857397
|
0.00054
|
NM_000875.5(IGF1R):c.2558C>T (p.Pro853Leu)
|
rs149217017
|
0.00053
|
NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile)
|
rs144722432
|
0.00053
|
NM_001177316.2(SLC34A3):c.321C>T (p.Asp107=)
|
rs114286327
|
0.00053
|
NM_001371623.1(TCOF1):c.503C>T (p.Thr168Met)
|
rs181203524
|
0.00053
|
NM_002024.6(FMR1):c.375T>C (p.Thr125=)
|
rs143611778
|
0.00053
|
NM_003482.4(KMT2D):c.15797G>A (p.Arg5266His)
|
rs201481646
|
0.00053
|
NM_015404.4(WHRN):c.1075G>A (p.Val359Ile)
|
rs147500559
|
0.00053
|
NM_018451.5(CENPJ):c.763A>G (p.Thr255Ala)
|
rs150932292
|
0.00053
|
NM_133497.4(KCNV2):c.957G>A (p.Leu319=)
|
rs141378856
|
0.00053
|
NM_201384.3(PLEC):c.8040C>T (p.Asp2680=)
|
rs373341589
|
0.00053
|
NM_001353214.3(DYM):c.2172C>T (p.Asp724=)
|
rs201928717
|
0.00052
|
NM_001848.3(COL6A1):c.997G>A (p.Val333Met)
|
rs201525908
|
0.00052
|
NM_007126.5(VCP):c.*4G>T
|
rs201091341
|
0.00052
|
NM_014795.4(ZEB2):c.1306A>G (p.Met436Val)
|
rs145812868
|
0.00052
|
NM_016729.3(FOLR1):c.321C>T (p.Tyr107=)
|
rs145674759
|
0.00052
|
NM_020436.5(SALL4):c.541G>A (p.Val181Met)
|
rs139382539
|
0.00052
|
NM_024408.4(NOTCH2):c.1541A>G (p.Asn514Ser)
|
rs34308573
|
0.00052
|
NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=)
|
rs148335285
|
0.00052
|
NM_000381.4(MID1):c.1489C>T (p.Leu497=)
|
rs138629923
|
0.00051
|
NM_001197104.2(KMT2A):c.10715T>G (p.Ile3572Ser)
|
rs147014136
|
0.00051
|
NM_001199799.2(ILDR1):c.379+10G>C
|
rs200883040
|
0.00051
|
NM_001267550.2(TTN):c.21404-4A>G
|
rs72648965
|
0.00051
|
NM_003331.5(TYK2):c.513G>A (p.Ser171=)
|
rs55988893
|
0.00051
|
NM_004187.5(KDM5C):c.4637G>A (p.Arg1546Gln)
|
rs139569882
|
0.00051
|
NM_006662.3(SRCAP):c.8531G>C (p.Gly2844Ala)
|
rs143277114
|
0.00051
|
NM_012301.4(MAGI2):c.2616C>T (p.Asn872=)
|
rs148005928
|
0.00051
|
NM_021625.5(TRPV4):c.769C>G (p.Leu257Val)
|
rs56217500
|
0.00051
|
NM_170682.4(P2RX2):c.922A>G (p.Lys308Glu)
|
rs115331525
|
0.00051
|
NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly)
|
rs142985368
|
0.00051
|
NM_000214.3(JAG1):c.1389C>T (p.Ser463=)
|
rs147229008
|
0.00050
|
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val)
|
rs150195368
|
0.00050
|
NM_001267550.2(TTN):c.65604T>C (p.Ala21868=)
|
rs200825430
|
0.00050
|
NM_004380.3(CREBBP):c.2409C>T (p.Ser803=)
|
rs139207930
|
0.00050
|
NM_012414.4(RAB3GAP2):c.3991C>A (p.Leu1331Ile)
|
rs149842844
|
0.00050
|
NM_018979.4(WNK1):c.2336C>T (p.Ala779Val)
|
rs141428612
|
0.00050
|
NM_000231.3(SGCG):c.832G>A (p.Gly278Ser)
|
rs147820869
|
0.00049
|
NM_000327.4(ROM1):c.342C>T (p.Leu114=)
|
rs537377404
|
0.00049
|
NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His)
|
rs2303603
|
0.00049
|
NM_001267550.2(TTN):c.31806C>T (p.Pro10602=)
|
rs370080995
|
0.00049
|
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys)
|
rs147415641
|
0.00049
|
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile)
|
rs149159881
|
0.00049
|
NM_015192.4(PLCB1):c.3039G>A (p.Gln1013=)
|
rs139859188
|
0.00049
|
NM_018139.3(DNAAF2):c.1584T>A (p.Asn528Lys)
|
rs144077436
|
0.00049
|
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His)
|
rs201512527
|
0.00048
|
NM_001429.4(EP300):c.3105C>T (p.Thr1035=)
|
rs150498069
|
0.00048
|
NM_001849.4(COL6A2):c.2982C>T (p.Ala994=)
|
rs145460820
|
0.00048
|
NM_001849.4(COL6A2):c.928-9C>T
|
rs200571090
|
0.00048
|
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met)
|
rs148176616
|
0.00048
|
NM_003482.4(KMT2D):c.16599G>A (p.Arg5533=)
|
rs199798179
|
0.00048
|
NM_004523.4(KIF11):c.2914A>G (p.Thr972Ala)
|
rs143577999
|
0.00048
|
NM_005249.5(FOXG1):c.503G>C (p.Gly168Ala)
|
rs148157138
|
0.00048
|
NM_170707.4(LMNA):c.1911C>T (p.Phe637=)
|
rs117939448
|
0.00048
|
NM_201384.3(PLEC):c.6300G>A (p.Ala2100=)
|
rs188154081
|
0.00048
|
NM_206933.4(USH2A):c.2052A>G (p.Gln684=)
|
rs111033248
|
0.00048
|
NM_000059.4(BRCA2):c.9843A>G (p.Pro3281=)
|
rs11571832
|
0.00047
|
NM_201384.3(PLEC):c.921C>T (p.Phe307=)
|
rs546380802
|
0.00047
|
NM_000325.6(PITX2):c.206-9C>T
|
rs367757020
|
0.00046
|
NM_000548.5(TSC2):c.1839+6G>A
|
rs45517204
|
0.00046
|
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys)
|
rs202029322
|
0.00046
|
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser)
|
rs200198847
|
0.00046
|
NM_001267550.2(TTN):c.47955A>G (p.Pro15985=)
|
rs192953152
|
0.00046
|
NM_001267550.2(TTN):c.52110G>A (p.Pro17370=)
|
rs139789997
|
0.00046
|
NM_001267550.2(TTN):c.85516C>A (p.Gln28506Lys)
|
rs201272728
|
0.00046
|
NM_001318510.2(ACSL4):c.1325A>G (p.Tyr442Cys)
|
rs200451158
|
0.00046
|
NM_003742.4(ABCB11):c.3524A>C (p.Lys1175Thr)
|
rs200709879
|
0.00046
|
NM_014780.5(CUL7):c.3876C>T (p.Ile1292=)
|
rs147056081
|
0.00046
|
NM_153676.4(USH1C):c.648G>A (p.Leu216=)
|
rs77137413
|
0.00046
|
NM_173495.3(PTCHD1):c.1665G>A (p.Val555=)
|
rs146777271
|
0.00046
|
NM_182961.4(SYNE1):c.14091G>T (p.Met4697Ile)
|
rs141141950
|
0.00046
|
NM_000642.3(AGL):c.39C>T (p.Asn13=)
|
rs138203039
|
0.00045
|
NM_001080.3(ALDH5A1):c.355-9C>G
|
rs375453445
|
0.00045
|
NM_001267550.2(TTN):c.104592G>A (p.Pro34864=)
|
rs144094650
|
0.00045
|
NM_001267550.2(TTN):c.11370A>G (p.Gln3790=)
|
rs72648918
|
0.00045
|
NM_001267550.2(TTN):c.25619C>T (p.Ser8540Phe)
|
rs201523784
|
0.00045
|
NM_004727.3(SLC24A1):c.2183C>T (p.Ala728Val)
|
rs201943537
|
0.00045
|
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser)
|
rs200696965
|
0.00044
|
NM_003072.5(SMARCA4):c.708T>C (p.Pro236=)
|
rs62639303
|
0.00044
|
NM_003165.6(STXBP1):c.1804A>G (p.Met602Val)
|
rs141208884
|
0.00044
|
NM_004006.3(DMD):c.5586+9G>A
|
rs200025478
|
0.00044
|
NM_004369.4(COL6A3):c.7779C>T (p.Ile2593=)
|
rs144249704
|
0.00044
|
NM_004817.4(TJP2):c.2720T>C (p.Met907Thr)
|
rs149659876
|
0.00044
|
NM_006579.3(EBP):c.650C>T (p.Thr217Met)
|
rs150348311
|
0.00044
|
NM_000169.3(GLA):c.376A>G (p.Ser126Gly)
|
rs149391489
|
0.00043
|
NM_001170629.2(CHD8):c.1717-4A>G
|
rs191933523
|
0.00043
|
NM_001267550.2(TTN):c.101376T>C (p.Tyr33792=)
|
rs367732133
|
0.00043
|
NM_001429.4(EP300):c.3063T>C (p.Thr1021=)
|
rs142431552
|
0.00043
|
NM_002617.4(PEX10):c.627G>A (p.Glu209=)
|
rs141430704
|
0.00043
|
NM_004006.3(DMD):c.6732G>C (p.Gln2244His)
|
rs142531761
|
0.00043
|
NM_004333.6(BRAF):c.2127+3A>G
|
rs371976102
|
0.00043
|
NM_145239.3(PRRT2):c.828C>T (p.Cys276=)
|
rs35625748
|
0.00043
|
NM_001134407.3(GRIN2A):c.2852G>T (p.Gly951Val)
|
rs139795367
|
0.00042
|
NM_020812.4(DOCK6):c.5088+8C>G
|
rs147181483
|
0.00042
|
NM_022455.5(NSD1):c.3564G>C (p.Arg1188Ser)
|
rs199814669
|
0.00042
|
NM_133379.5(TTN):c.10617T>C (p.His3539=)
|
rs200284932
|
0.00042
|
NM_182914.3(SYNE2):c.14528T>A (p.Phe4843Tyr)
|
rs141488398
|
0.00042
|
NM_000489.6(ATRX):c.2169G>C (p.Glu723Asp)
|
rs61752456
|
0.00041
|
NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly)
|
rs200201741
|
0.00041
|
NM_001161352.2(KCNMA1):c.2547C>T (p.Asp849=)
|
rs147369374
|
0.00041
|
NM_001267550.2(TTN):c.47379C>T (p.Tyr15793=)
|
rs374281025
|
0.00041
|
NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys)
|
rs200144345
|
0.00041
|
NM_001267550.2(TTN):c.79863G>A (p.Thr26621=)
|
rs186402008
|
0.00041
|
NM_001374353.1(GLI2):c.2034G>A (p.Thr678=)
|
rs139298853
|
0.00041
|
NM_004369.4(COL6A3):c.2205C>T (p.Gly735=)
|
rs148713779
|
0.00041
|
NM_004369.4(COL6A3):c.3419C>T (p.Thr1140Met)
|
rs201131900
|
0.00041
|
NM_031220.4(PITPNM3):c.1671C>T (p.Tyr557=)
|
rs74748737
|
0.00041
|
NM_182914.3(SYNE2):c.18723+8C>T
|
rs200853043
|
0.00041
|
NM_201384.3(PLEC):c.10498C>T (p.Arg3500Cys)
|
rs200541837
|
0.00041
|
NM_001110556.2(FLNA):c.5055G>A (p.Thr1685=)
|
rs372863999
|
0.00040
|
NM_001165963.4(SCN1A):c.5286A>G (p.Gly1762=)
|
rs150570058
|
0.00040
|
NM_001267550.2(TTN):c.97538G>A (p.Arg32513His)
|
rs201080904
|
0.00040
|
NM_004187.5(KDM5C):c.3990C>G (p.Ala1330=)
|
rs143291826
|
0.00040
|
NM_004281.4(BAG3):c.888C>T (p.His296=)
|
rs139399890
|
0.00040
|
NM_014625.4(NPHS2):c.709G>C (p.Glu237Gln)
|
rs146906190
|
0.00040
|
NM_033641.4(COL4A6):c.4359C>T (p.Phe1453=)
|
rs139555294
|
0.00040
|
NM_000214.3(JAG1):c.894T>C (p.Asn298=)
|
rs149897344
|
0.00039
|
NM_001267550.2(TTN):c.59319G>A (p.Glu19773=)
|
rs367622770
|
0.00039
|
NM_001353921.2(ARHGEF9):c.675G>A (p.Gln225=)
|
rs140777637
|
0.00039
|
NM_006662.3(SRCAP):c.5420C>T (p.Ala1807Val)
|
rs150467782
|
0.00039
|
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser)
|
rs148174226
|
0.00039
|
NM_022336.4(EDAR):c.960C>T (p.Ala320=)
|
rs10432616
|
0.00039
|
NM_001267550.2(TTN):c.26694G>T (p.Gly8898=)
|
rs199525540
|
0.00038
|
NM_001267550.2(TTN):c.87137T>G (p.Met29046Arg)
|
rs143975327
|
0.00038
|
NM_001848.3(COL6A1):c.349G>A (p.Val117Met)
|
rs150686304
|
0.00038
|
NM_002968.3(SALL1):c.3120A>G (p.Thr1040=)
|
rs146655918
|
0.00038
|
NM_003482.4(KMT2D):c.7954A>C (p.Met2652Leu)
|
rs147706410
|
0.00038
|
NM_006736.6(DNAJB2):c.703C>G (p.Gln235Glu)
|
rs148615702
|
0.00038
|
NM_015102.5(NPHP4):c.3045-5C>T
|
rs2297790
|
0.00038
|
NM_021072.4(HCN1):c.1710C>T (p.Asn570=)
|
rs141455774
|
0.00038
|
NM_201384.3(PLEC):c.3733C>A (p.Arg1245=)
|
rs367688739
|
0.00038
|
NM_001110792.2(MECP2):c.*14G>A
|
rs199963992
|
0.00037
|
NM_001159699.2(FHL1):c.225C>A (p.Arg75=)
|
rs143791173
|
0.00037
|
NM_001267550.2(TTN):c.12024C>T (p.Leu4008=)
|
rs371694842
|
0.00037
|
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=)
|
rs140021654
|
0.00037
|
NM_000141.5(FGFR2):c.1788G>A (p.Glu596=)
|
rs56335660
|
0.00036
|
NM_000142.5(FGFR3):c.130G>A (p.Gly44Ser)
|
rs146080119
|
0.00036
|
NM_000548.5(TSC2):c.1143G>A (p.Arg381=)
|
rs45517155
|
0.00036
|
NM_001163809.2(WDR81):c.2266C>T (p.Arg756Trp)
|
rs536486423
|
0.00036
|
NM_001267550.2(TTN):c.79410G>A (p.Gly26470=)
|
rs140942979
|
0.00036
|
NM_002025.4(AFF2):c.2780G>A (p.Arg927His)
|
rs140927355
|
0.00036
|
NM_003282.4(TNNI2):c.54G>C (p.Leu18=)
|
rs181679318
|
0.00036
|
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly)
|
rs147822019
|
0.00036
|
NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val)
|
rs115976458
|
0.00036
|
NM_133433.4(NIPBL):c.198C>G (p.Val66=)
|
rs146033170
|
0.00036
|
NM_201384.3(PLEC):c.5673C>T (p.Ile1891=)
|
rs191863619
|
0.00036
|
NM_000381.4(MID1):c.1561C>T (p.Arg521Cys)
|
rs149482288
|
0.00035
|
NM_001267550.2(TTN):c.32049A>G (p.Lys10683=)
|
rs375408527
|
0.00035
|
NM_001267550.2(TTN):c.96016G>A (p.Val32006Met)
|
rs191786700
|
0.00035
|
NM_001374353.1(GLI2):c.3309C>T (p.Ser1103=)
|
rs145751002
|
0.00035
|
NM_004369.4(COL6A3):c.8007C>T (p.His2669=)
|
rs528369978
|
0.00035
|
NM_004560.4(ROR2):c.730C>T (p.Arg244Trp)
|
rs148340413
|
0.00035
|
NM_017780.4(CHD7):c.8047C>T (p.Pro2683Ser)
|
rs201319489
|
0.00035
|
NM_182961.4(SYNE1):c.17505C>T (p.Leu5835=)
|
rs148731167
|
0.00035
|
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)
|
rs139552233
|
0.00034
|
NM_000070.3(CAPN3):c.246G>A (p.Pro82=)
|
rs146529432
|
0.00034
|
NM_000292.3(PHKA2):c.3244G>A (p.Val1082Met)
|
rs142123423
|
0.00034
|
NM_000441.2(SLC26A4):c.1614+7A>G
|
rs199643344
|
0.00034
|
NM_001034853.2(RPGR):c.141T>G (p.Ser47=)
|
rs62638631
|
0.00034
|
NM_001110792.2(MECP2):c.978C>T (p.Ile326=)
|
rs61751446
|
0.00034
|
NM_001267550.2(TTN):c.55449C>T (p.Pro18483=)
|
rs187366691
|
0.00034
|
NM_001349338.3(FOXP1):c.1762G>A (p.Ala588Thr)
|
rs202173892
|
0.00034
|
NM_002968.3(SALL1):c.1322C>A (p.Thr441Asn)
|
rs76275412
|
0.00034
|
NM_003482.4(KMT2D):c.6811C>T (p.Pro2271Ser)
|
rs199802471
|
0.00034
|
NM_004551.3(NDUFS3):c.628-7C>T
|
rs11039306
|
0.00034
|
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu)
|
rs55906931
|
0.00034
|
NM_020975.6(RET):c.1158G>A (p.Ala386=)
|
rs373540097
|
0.00034
|
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala)
|
rs104886164
|
0.00034
|
NM_133379.5(TTN):c.15193C>T (p.Pro5065Ser)
|
rs200953966
|
0.00034
|
NM_182961.4(SYNE1):c.26212C>T (p.Arg8738Cys)
|
rs144206837
|
0.00034
|
NM_203486.3(DLL3):c.677C>G (p.Pro226Arg)
|
rs145191532
|
0.00034
|
NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys)
|
rs149887461
|
0.00033
|
NM_004006.3(DMD):c.10836C>T (p.Ser3612=)
|
rs148590546
|
0.00033
|
NM_004369.4(COL6A3):c.5712C>T (p.Asp1904=)
|
rs151234107
|
0.00033
|
NM_015102.5(NPHP4):c.944C>T (p.Thr315Met)
|
rs200684272
|
0.00033
|
NM_017433.5(MYO3A):c.3932C>G (p.Thr1311Ser)
|
rs146693681
|
0.00033
|
NM_017780.4(CHD7):c.1188G>T (p.Met396Ile)
|
rs201653177
|
0.00033
|
NM_153240.5(NPHP3):c.3500G>A (p.Arg1167His)
|
rs111727307
|
0.00033
|
NM_201384.3(PLEC):c.9186C>T (p.Ala3062=)
|
rs377371180
|
0.00033
|
NM_000264.5(PTCH1):c.1913G>A (p.Arg638His)
|
rs145766839
|
0.00032
|
NM_000346.4(SOX9):c.1503C>T (p.Pro501=)
|
rs139015010
|
0.00032
|
NM_001195553.2(DCX):c.856G>T (p.Ala286Ser)
|
rs149495971
|
0.00032
|
NM_001267550.2(TTN):c.11583C>T (p.Thr3861=)
|
rs11899887
|
0.00032
|
NM_001267550.2(TTN):c.9789C>T (p.Ser3263=)
|
rs138313387
|
0.00032
|
NM_001278116.2(L1CAM):c.2657G>A (p.Arg886Gln)
|
rs142603269
|
0.00032
|
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn)
|
rs150888094
|
0.00032
|
NM_004006.3(DMD):c.94-9T>A
|
rs3764764
|
0.00032
|
NM_005199.5(CHRNG):c.1381G>A (p.Gly461Arg)
|
rs143800157
|
0.00032
|
NM_007126.5(VCP):c.2406T>C (p.Asp802=)
|
rs145508640
|
0.00032
|
NM_020822.3(KCNT1):c.1628A>G (p.Gln543Arg)
|
rs200173000
|
0.00032
|
NM_133379.5(TTN):c.11628A>G (p.Thr3876=)
|
rs140246156
|
0.00032
|
NM_198525.3(KIF7):c.516G>A (p.Glu172=)
|
rs199959946
|
0.00032
|
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val)
|
rs79538375
|
0.00031
|
NM_000124.4(ERCC6):c.2391C>T (p.Ser797=)
|
rs142641602
|
0.00031
|
NM_000152.5(GAA):c.2478G>A (p.Leu826=)
|
rs201183207
|
0.00031
|
NM_000540.3(RYR1):c.8616+7G>A
|
rs200023171
|
0.00031
|
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met)
|
rs45517294
|
0.00031
|
NM_000780.4(CYP7A1):c.1059G>A (p.Ser353=)
|
rs144531506
|
0.00031
|
NM_001267550.2(TTN):c.101480G>A (p.Arg33827His)
|
rs376403708
|
0.00031
|
NM_001267550.2(TTN):c.14898T>C (p.Ala4966=)
|
rs370105333
|
0.00031
|
NM_004369.4(COL6A3):c.4399A>G (p.Asn1467Asp)
|
rs138049094
|
0.00031
|
NM_005045.4(RELN):c.9340A>G (p.Ile3114Val)
|
rs149613347
|
0.00031
|
NM_015158.5(KANK1):c.565G>A (p.Gly189Ser)
|
rs200751333
|
0.00031
|
NM_000368.5(TSC1):c.1977G>A (p.Ala659=)
|
rs35958226
|
0.00030
|
NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro)
|
rs397516423
|
0.00030
|
NM_001130987.2(DYSF):c.5478C>T (p.Val1826=)
|
rs145143725
|
0.00030
|
NM_001159699.2(FHL1):c.331C>T (p.Arg111Trp)
|
rs150911744
|
0.00030
|
NM_001267550.2(TTN):c.94863C>T (p.His31621=)
|
rs373871146
|
0.00030
|
NM_003482.4(KMT2D):c.5952C>A (p.Pro1984=)
|
rs587783721
|
0.00030
|
NM_004369.4(COL6A3):c.1478T>C (p.Val493Ala)
|
rs116794756
|
0.00030
|
NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn)
|
rs371839994
|
0.00030
|
NM_016356.5(DCDC2):c.478A>C (p.Arg160=)
|
rs201204772
|
0.00030
|
NM_201384.3(PLEC):c.4521C>T (p.Ser1507=)
|
rs372986812
|
0.00030
|
NM_000061.3(BTK):c.1909-9T>C
|
rs782702231
|
0.00029
|
NM_000275.3(OCA2):c.37G>A (p.Gly13Ser)
|
rs201554429
|
0.00029
|
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu)
|
rs75820036
|
0.00029
|
NM_001077525.3(MTMR14):c.1067C>T (p.Thr356Met)
|
rs183134138
|
0.00029
|
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser)
|
rs200053635
|
0.00029
|
NM_001159773.2(CANT1):c.433G>T (p.Val145Leu)
|
rs140112462
|
0.00029
|
NM_001267550.2(TTN):c.4645+8G>T
|
rs144456585
|
0.00029
|
NM_001330260.2(SCN8A):c.1424G>A (p.Arg475Gln)
|
rs201018451
|
0.00029
|
NM_001366722.1(GRIP1):c.1199-7C>G
|
rs200313638
|
0.00029
|
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His)
|
rs56012641
|
0.00029
|
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys)
|
rs56187033
|
0.00029
|
NM_014795.4(ZEB2):c.2601G>A (p.Lys867=)
|
rs139369265
|
0.00029
|
NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser)
|
rs202039728
|
0.00029
|
NM_019098.5(CNGB3):c.912C>T (p.Val304=)
|
rs117806701
|
0.00029
|
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val)
|
rs201475055
|
0.00029
|
NM_024408.4(NOTCH2):c.7086C>T (p.Asp2362=)
|
rs150657714
|
0.00029
|
NM_000093.5(COL5A1):c.3474+7C>T
|
rs550497696
|
0.00028
|
NM_000156.6(GAMT):c.279C>T (p.Asp93=)
|
rs144630886
|
0.00028
|
NM_000255.4(MMUT):c.461G>A (p.Arg154His)
|
rs142068898
|
0.00028
|
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met)
|
rs141650598
|
0.00028
|
NM_001025295.3(IFITM5):c.41C>T (p.Thr14Met)
|
rs200046984
|
0.00028
|
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=)
|
rs148697028
|
0.00028
|
NM_001267550.2(TTN):c.75762G>T (p.Val25254=)
|
rs374003257
|
0.00028
|
NM_001278116.2(L1CAM):c.984C>T (p.Thr328=)
|
rs200638763
|
0.00028
|
NM_000023.4(SGCA):c.662G>A (p.Arg221His)
|
rs138254713
|
0.00027
|
NM_000081.4(LYST):c.368A>G (p.His123Arg)
|
rs3768067
|
0.00027
|
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr)
|
rs149722210
|
0.00027
|
NM_000303.3(PMM2):c.366C>T (p.Phe122=)
|
rs145714866
|
0.00027
|
NM_004006.3(DMD):c.2380+10C>T
|
rs372330460
|
0.00027
|
NM_020822.3(KCNT1):c.1104G>A (p.Ala368=)
|
rs146032445
|
0.00027
|
NM_182961.4(SYNE1):c.9420G>A (p.Ala3140=)
|
rs188913729
|
0.00027
|
NM_000059.4(BRCA2):c.1395A>C (p.Val465=)
|
rs11571641
|
0.00026
|
NM_000268.4(NF2):c.-18G>A
|
rs201591536
|
0.00026
|
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr)
|
rs141723617
|
0.00026
|
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=)
|
rs45475501
|
0.00026
|
NM_000553.6(WRN):c.1530A>T (p.Glu510Asp)
|
rs149565907
|
0.00026
|
NM_001267550.2(TTN):c.34845C>T (p.Pro11615=)
|
rs368781863
|
0.00026
|
NM_001267550.2(TTN):c.98892C>T (p.Pro32964=)
|
rs374081262
|
0.00026
|
NM_001848.3(COL6A1):c.3029A>G (p.Gln1010Arg)
|
rs141605607
|
0.00026
|
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val)
|
rs201787206
|
0.00026
|
NM_004006.3(DMD):c.1252A>T (p.Thr418Ser)
|
rs201341211
|
0.00026
|
NM_005422.4(TECTA):c.4315C>A (p.Leu1439Ile)
|
rs202199158
|
0.00026
|
NM_014795.4(ZEB2):c.1735A>G (p.Thr579Ala)
|
rs140593583
|
0.00026
|
NM_058246.4(DNAJB6):c.860G>A (p.Arg287Gln)
|
rs368078459
|
0.00026
|
NM_182914.3(SYNE2):c.6714+6G>T
|
rs191541575
|
0.00026
|
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His)
|
rs56328701
|
0.00025
|
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser)
|
rs146057575
|
0.00025
|
NM_001267550.2(TTN):c.39690G>A (p.Ala13230=)
|
rs528832388
|
0.00025
|
NM_001267550.2(TTN):c.5697C>T (p.Ile1899=)
|
rs148434577
|
0.00025
|
NM_001853.4(COL9A3):c.333G>A (p.Pro111=)
|
rs149690829
|
0.00025
|
NM_001966.4(EHHADH):c.191G>A (p.Arg64His)
|
rs138910957
|
0.00025
|
NM_003482.4(KMT2D):c.15090T>G (p.Arg5030=)
|
rs373414243
|
0.00025
|
NM_004369.4(COL6A3):c.9128G>A (p.Arg3043His)
|
rs552651651
|
0.00025
|
NM_005220.3(DLX3):c.90T>C (p.Pro30=)
|
rs145424773
|
0.00025
|
NM_014714.4(IFT140):c.*2G>A
|
rs144879630
|
0.00025
|
NM_014795.4(ZEB2):c.2142G>A (p.Pro714=)
|
rs201180901
|
0.00025
|
NM_133379.5(TTN):c.12716C>T (p.Ala4239Val)
|
rs72647901
|
0.00025
|
NM_182914.3(SYNE2):c.16178C>T (p.Ala5393Val)
|
rs147173048
|
0.00025
|
NM_000026.4(ADSL):c.649C>G (p.His217Asp)
|
rs199761158
|
0.00024
|
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe)
|
rs1800408
|
0.00024
|
NM_001267550.2(TTN):c.86117G>A (p.Arg28706Gln)
|
rs199788826
|
0.00024
|
NM_001540.5(HSPB1):c.24C>T (p.Phe8=)
|
rs201769668
|
0.00024
|
NM_003482.4(KMT2D):c.9729C>T (p.Ser3243=)
|
rs369959158
|
0.00024
|
NM_004006.3(DMD):c.2884C>G (p.Leu962Val)
|
rs150959827
|
0.00024
|
NM_004260.4(RECQL4):c.2953G>A (p.Val985Met)
|
rs200629599
|
0.00024
|
NM_004333.6(BRAF):c.-5A>G
|
rs71645936
|
0.00024
|
NM_004817.4(TJP2):c.3190G>T (p.Val1064Leu)
|
rs199892018
|
0.00024
|
NM_080680.3(COL11A2):c.1819-10G>A
|
rs3129202
|
0.00024
|
NM_080680.3(COL11A2):c.4950C>T (p.Asp1650=)
|
rs372110441
|
0.00024
|
NM_133433.4(NIPBL):c.5101T>C (p.Ser1701Pro)
|
rs139819353
|
0.00024
|
NM_206933.4(USH2A):c.14642G>C (p.Ser4881Thr)
|
rs200949691
|
0.00024
|
NM_000090.4(COL3A1):c.1815+5G>A
|
rs146652498
|
0.00023
|
NM_000214.3(JAG1):c.3296C>T (p.Pro1099Leu)
|
rs200949270
|
0.00023
|
NM_000489.6(ATRX):c.6405C>T (p.Phe2135=)
|
rs148659669
|
0.00023
|
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln)
|
rs199632397
|
0.00023
|
NM_004006.3(DMD):c.696C>G (p.Ile232Met)
|
rs145668843
|
0.00023
|
NM_004006.3(DMD):c.7310-7A>G
|
rs373230021
|
0.00023
|
NM_004380.3(CREBBP):c.5934C>T (p.Asn1978=)
|
rs754282387
|
0.00023
|
NM_014795.4(ZEB2):c.462G>A (p.Glu154=)
|
rs372940559
|
0.00023
|
NM_022124.6(CDH23):c.2572G>A (p.Val858Ile)
|
rs181275139
|
0.00023
|
NM_182961.4(SYNE1):c.5129C>A (p.Ala1710Asp)
|
rs150702500
|
0.00023
|
NM_000235.4(LIPA):c.1009A>G (p.Thr337Ala)
|
rs143793106
|
0.00022
|
NM_001267550.2(TTN):c.10188A>G (p.Glu3396=)
|
rs183336802
|
0.00022
|
NM_001267550.2(TTN):c.12234C>G (p.Thr4078=)
|
rs192857526
|
0.00022
|
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg)
|
rs56061641
|
0.00022
|
NM_001330260.2(SCN8A):c.5601G>A (p.Gln1867=)
|
rs368449473
|
0.00022
|
NM_002335.4(LRP5):c.1395A>C (p.Ala465=)
|
rs200075657
|
0.00022
|
NM_005378.6(MYCN):c.1093C>G (p.Pro365Ala)
|
rs140276895
|
0.00022
|
NM_005633.4(SOS1):c.1770G>A (p.Glu590=)
|
rs553331572
|
0.00022
|
NM_006005.3(WFS1):c.1792G>A (p.Ala598Thr)
|
rs140125843
|
0.00022
|
NM_014795.4(ZEB2):c.304A>T (p.Ile102Phe)
|
rs201109457
|
0.00022
|
NM_024596.5(MCPH1):c.1214T>C (p.Leu405Pro)
|
rs556803400
|
0.00022
|
NM_025074.7(FRAS1):c.1635C>T (p.Ser545=)
|
rs528765554
|
0.00022
|
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr)
|
rs147351244
|
0.00022
|
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp)
|
rs140493115
|
0.00021
|
NM_001135022.2(ELMOD3):c.706G>A (p.Glu236Lys)
|
rs75956808
|
0.00021
|
NM_001278182.2(EOMES):c.1761C>T (p.Thr587=)
|
rs147750278
|
0.00021
|
NM_004985.5(KRAS):c.264A>G (p.Lys88=)
|
rs370920665
|
0.00021
|
NM_005708.5(GPC6):c.10T>A (p.Trp4Arg)
|
rs200925249
|
0.00021
|
NM_005989.4(AKR1D1):c.262-7C>A
|
rs144365681
|
0.00021
|
NM_018451.5(CENPJ):c.2852A>G (p.Gln951Arg)
|
rs138675304
|
0.00021
|
NM_020631.6(PLEKHG5):c.482T>C (p.Met161Thr)
|
rs140817021
|
0.00021
|
NM_024408.4(NOTCH2):c.6997G>C (p.Ala2333Pro)
|
rs143506822
|
0.00021
|
NM_170707.4(LMNA):c.1017G>A (p.Ala339=)
|
rs17847242
|
0.00021
|
NM_201253.3(CRB1):c.1986A>G (p.Ser662=)
|
rs115400822
|
0.00021
|
NM_201384.3(PLEC):c.4101C>T (p.Ala1367=)
|
rs376065732
|
0.00021
|
NM_207361.6(FREM2):c.2180G>A (p.Arg727His)
|
rs201714905
|
0.00021
|
NM_001018113.3(FANCB):c.1140T>A (p.Phe380Leu)
|
rs199909156
|
0.00020
|
NM_001029896.2(WDR45):c.936C>T (p.Phe312=)
|
rs199814778
|
0.00020
|
NM_001182.5(ALDH7A1):c.39A>G (p.Ala13=)
|
rs201566142
|
0.00020
|
NM_001429.4(EP300):c.324C>T (p.Ala108=)
|
rs138876937
|
0.00020
|
NM_001853.4(COL9A3):c.1461T>A (p.Gly487=)
|
rs140973451
|
0.00020
|
NM_004006.3(DMD):c.3666T>C (p.Asn1222=)
|
rs373281760
|
0.00020
|
NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly)
|
rs117898549
|
0.00020
|
NM_022464.5(SIL1):c.1232G>A (p.Arg411His)
|
rs192255604
|
0.00020
|
NM_000059.4(BRCA2):c.1123C>T (p.Pro375Ser)
|
rs80358408
|
0.00019
|
NM_000337.6(SGCD):c.699+18C>G
|
rs180898690
|
0.00019
|
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys)
|
rs118203532
|
0.00019
|
NM_000726.5(CACNB4):c.*4T>C
|
rs556761275
|
0.00019
|
NM_001101426.4(CRPPA):c.876A>G (p.Glu292=)
|
rs371300262
|
0.00019
|
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)
|
rs115407852
|
0.00019
|
NM_001164508.2(NEB):c.19295A>G (p.Gln6432Arg)
|
rs189912759
|
0.00019
|
NM_001267550.2(TTN):c.9338G>A (p.Arg3113His)
|
rs141258018
|
0.00019
|
NM_001429.4(EP300):c.2240C>T (p.Pro747Leu)
|
rs193026103
|
0.00019
|
NM_001457.4(FLNB):c.5445C>T (p.Tyr1815=)
|
rs755702006
|
0.00019
|
NM_001457.4(FLNB):c.5769C>T (p.Ala1923=)
|
rs201723447
|
0.00019
|
NM_001848.3(COL6A1):c.1611C>T (p.Asn537=)
|
rs200023632
|
0.00019
|
NM_004187.5(KDM5C):c.536G>A (p.Arg179His)
|
rs201805773
|
0.00019
|
NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser)
|
rs117134265
|
0.00019
|
NM_014467.3(SRPX2):c.449C>T (p.Ser150Phe)
|
rs373847965
|
0.00019
|
NM_014920.5(CILK1):c.555G>A (p.Ala185=)
|
rs138668959
|
0.00019
|
NM_018100.4(EFHC1):c.661C>T (p.Arg221Cys)
|
rs139197513
|
0.00019
|
NM_021072.4(HCN1):c.159C>G (p.His53Gln)
|
rs10066808
|
0.00019
|
NM_022436.3(ABCG5):c.1347C>T (p.Ser449=)
|
rs139361486
|
0.00019
|
NM_022455.5(NSD1):c.6444T>C (p.Asn2148=)
|
rs146601031
|
0.00019
|
NM_030665.4(RAI1):c.2001G>A (p.Leu667=)
|
rs201660954
|
0.00019
|
NM_133378.4(TTN):c.19928-7C>T
|
rs771244164
|
0.00019
|
NM_138694.4(PKHD1):c.3984C>T (p.Val1328=)
|
rs182468850
|
0.00019
|
NM_182961.4(SYNE1):c.10786G>A (p.Val3596Met)
|
rs143034104
|
0.00019
|
NM_182961.4(SYNE1):c.18881A>T (p.Gln6294Leu)
|
rs140090745
|
0.00019
|
NM_182961.4(SYNE1):c.24642+3A>G
|
rs117346210
|
0.00019
|
NM_000117.3(EMD):c.272A>G (p.Asn91Ser)
|
rs137977232
|
0.00018
|
NM_001184880.2(PCDH19):c.655C>T (p.Leu219=)
|
rs377627937
|
0.00018
|
NM_001267550.2(TTN):c.25209T>C (p.Asp8403=)
|
rs569860898
|
0.00018
|
NM_001267550.2(TTN):c.88134A>G (p.Pro29378=)
|
rs374612925
|
0.00018
|
NM_001429.4(EP300):c.2242-8T>C
|
rs199931034
|
0.00018
|
NM_001457.4(FLNB):c.4390+8T>A
|
rs377095569
|
0.00018
|
NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu)
|
rs754765424
|
0.00018
|
NM_024408.4(NOTCH2):c.6486C>T (p.Ser2162=)
|
rs372865598
|
0.00018
|
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln)
|
rs149968110
|
0.00017
|
NM_000540.3(RYR1):c.14061G>A (p.Leu4687=)
|
rs201629205
|
0.00017
|
NM_001161352.2(KCNMA1):c.2548G>A (p.Val850Ile)
|
rs142770262
|
0.00017
|
NM_001267550.2(TTN):c.27846C>T (p.Ser9282=)
|
rs182355009
|
0.00017
|
NM_001267550.2(TTN):c.54148C>T (p.Arg18050Cys)
|
rs55734111
|
0.00017
|
NM_002547.3(OPHN1):c.2362C>T (p.Arg788Trp)
|
rs148208753
|
0.00017
|
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp)
|
rs200257554
|
0.00017
|
NM_004369.4(COL6A3):c.8097G>A (p.Val2699=)
|
rs115757876
|
0.00017
|
NM_004369.4(COL6A3):c.958G>A (p.Ala320Thr)
|
rs115819851
|
0.00017
|
NM_006662.3(SRCAP):c.3172C>T (p.Pro1058Ser)
|
rs145506785
|
0.00017
|
NM_014141.6(CNTNAP2):c.515T>C (p.Ile172Thr)
|
rs201326295
|
0.00017
|
NM_015102.5(NPHP4):c.2716C>T (p.Arg906Cys)
|
rs199992272
|
0.00017
|
NM_015295.3(SMCHD1):c.3872A>G (p.Asn1291Ser)
|
rs201497685
|
0.00017
|
NM_182914.3(SYNE2):c.19417G>C (p.Asp6473His)
|
rs140940287
|
0.00017
|
NM_182961.4(SYNE1):c.7713-4T>C
|
rs571742202
|
0.00017
|
NM_201384.3(PLEC):c.4560C>T (p.Arg1520=)
|
rs782412831
|
0.00017
|
NM_201384.3(PLEC):c.6492C>T (p.Asp2164=)
|
rs575031901
|
0.00017
|
NM_201384.3(PLEC):c.801C>T (p.Asp267=)
|
rs202218097
|
0.00017
|
NM_000145.4(FSHR):c.446+10T>C
|
rs200504733
|
0.00016
|
NM_000368.5(TSC1):c.1700C>T (p.Ala567Val)
|
rs397514880
|
0.00016
|
NM_000368.5(TSC1):c.3435G>A (p.Pro1145=)
|
rs140352085
|
0.00016
|
NM_000492.4(CFTR):c.-4G>C
|
rs369326781
|
0.00016
|
NM_001024630.4(RUNX2):c.151C>A (p.Gln51Lys)
|
rs368475300
|
0.00016
|
NM_001267550.2(TTN):c.28547G>A (p.Arg9516His)
|
rs374156904
|
0.00016
|
NM_001849.4(COL6A2):c.1129C>T (p.Arg377Cys)
|
rs144801620
|
0.00016
|
NM_001966.4(EHHADH):c.1194T>C (p.Ala398=)
|
rs200339151
|
0.00016
|
NM_003036.4(SKI):c.1440G>A (p.Ser480=)
|
rs185754530
|
0.00016
|
NM_003482.4(KMT2D):c.11043G>A (p.Gln3681=)
|
rs371444130
|
0.00016
|
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr)
|
rs201302282
|
0.00016
|
NM_004006.3(DMD):c.8974G>A (p.Val2992Met)
|
rs201691420
|
0.00016
|
NM_004369.4(COL6A3):c.8804C>T (p.Ala2935Val)
|
rs36020669
|
0.00016
|
NM_005633.4(SOS1):c.109A>G (p.Thr37Ala)
|
rs150565592
|
0.00016
|
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr)
|
rs76872266
|
0.00016
|
NM_015102.5(NPHP4):c.3777G>A (p.Arg1259=)
|
rs369566680
|
0.00016
|
NM_015192.4(PLCB1):c.3584A>G (p.His1195Arg)
|
rs186429469
|
0.00016
|
NM_025074.7(FRAS1):c.4308+10G>T
|
rs146718957
|
0.00016
|
NM_201384.3(PLEC):c.12064C>T (p.Leu4022Phe)
|
rs189061273
|
0.00016
|
NM_000152.5(GAA):c.368G>A (p.Gly123Glu)
|
rs138034915
|
0.00015
|
NM_000155.4(GALT):c.564+15G>A
|
rs111033732
|
0.00015
|
NM_000214.3(JAG1):c.1806C>T (p.His602=)
|
rs764290237
|
0.00015
|
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr)
|
rs373435883
|
0.00015
|
NM_000430.4(PAFAH1B1):c.1110G>A (p.Lys370=)
|
rs147983048
|
0.00015
|
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser)
|
rs186234393
|
0.00015
|
NM_001349338.3(FOXP1):c.44C>T (p.Ala15Val)
|
rs532329866
|
0.00015
|
NM_001845.6(COL4A1):c.807+3C>T
|
rs192723236
|
0.00015
|
NM_001927.4(DES):c.243C>T (p.Ser81=)
|
rs201594392
|
0.00015
|
NM_004006.3(DMD):c.2575A>T (p.Thr859Ser)
|
rs187926894
|
0.00015
|
NM_004006.3(DMD):c.9486G>A (p.Glu3162=)
|
rs370724251
|
0.00015
|
NM_198904.4(GABRG2):c.768C>T (p.Ser256=)
|
rs201672465
|
0.00015
|
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met)
|
rs80358656
|
0.00014
|
NM_000214.3(JAG1):c.1043G>A (p.Arg348Lys)
|
rs200227737
|
0.00014
|
NM_000287.4(PEX6):c.2867C>T (p.Ala956Val)
|
rs200115671
|
0.00014
|
NM_000642.3(AGL):c.4027G>A (p.Glu1343Lys)
|
rs112795811
|
0.00014
|
NM_000747.3(CHRNB1):c.1217+9A>G
|
rs145242880
|
0.00014
|
NM_000780.4(CYP7A1):c.297A>G (p.Lys99=)
|
rs184906718
|
0.00014
|
NM_001005361.3(DNM2):c.789G>A (p.Pro263=)
|
rs199976453
|
0.00014
|
NM_001127222.2(CACNA1A):c.796G>A (p.Gly266Ser)
|
rs17846908
|
0.00014
|
NM_001128178.3(NPHP1):c.1913A>G (p.Gln638Arg)
|
rs186950965
|
0.00014
|
NM_001267550.2(TTN):c.80115G>T (p.Glu26705Asp)
|
rs558830502
|
0.00014
|
NM_001267550.2(TTN):c.82103A>G (p.Asp27368Gly)
|
rs145373396
|
0.00014
|
NM_001267550.2(TTN):c.87111G>A (p.Glu29037=)
|
rs374902148
|
0.00014
|
NM_001364905.1(LRBA):c.6163G>A (p.Val2055Met)
|
rs138428438
|
0.00014
|
NM_001378414.1(HDAC4):c.1978+8G>A
|
rs200120991
|
0.00014
|
NM_001848.3(COL6A1):c.3078G>A (p.Ala1026=)
|
rs190043330
|
0.00014
|
NM_002485.5(NBN):c.1809C>A (p.Phe603Leu)
|
rs192236678
|
0.00014
|
NM_003482.4(KMT2D):c.3813A>T (p.Leu1271=)
|
rs201794205
|
0.00014
|
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn)
|
rs111033188
|
0.00014
|
NM_004006.3(DMD):c.4876G>A (p.Val1626Met)
|
rs776998846
|
0.00014
|
NM_004006.3(DMD):c.5723A>T (p.Asp1908Val)
|
rs145266970
|
0.00014
|
NM_004817.4(TJP2):c.887G>A (p.Ser296Asn)
|
rs376434139
|
0.00014
|
NM_005529.7(HSPG2):c.7026C>T (p.Pro2342=)
|
rs182418174
|
0.00014
|
NM_006017.3(PROM1):c.1077+6C>G
|
rs146390632
|
0.00014
|
NM_012193.4(FZD4):c.205C>T (p.His69Tyr)
|
rs80358282
|
0.00014
|
NM_014324.6(AMACR):c.844G>C (p.Glu282Gln)
|
rs181341030
|
0.00014
|
NM_014795.4(ZEB2):c.1848T>G (p.Pro616=)
|
rs144835963
|
0.00014
|
NM_018136.5(ASPM):c.5584A>G (p.Lys1862Glu)
|
rs527602809
|
0.00014
|
NM_022356.4(P3H1):c.1071C>T (p.Gly357=)
|
rs202234531
|
0.00014
|
NM_032119.4(ADGRV1):c.2456G>A (p.Ser819Asn)
|
rs182395524
|
0.00014
|
NM_138694.4(PKHD1):c.812T>A (p.Leu271His)
|
rs750887164
|
0.00014
|
NM_201384.3(PLEC):c.5443C>T (p.Arg1815Trp)
|
rs398123400
|
0.00014
|
NM_201384.3(PLEC):c.6424G>A (p.Ala2142Thr)
|
rs370942881
|
0.00014
|
NM_207361.6(FREM2):c.9337A>G (p.Thr3113Ala)
|
rs202106776
|
0.00014
|
NM_000053.4(ATP7B):c.1426G>A (p.Ala476Thr)
|
rs139289704
|
0.00013
|
NM_000070.3(CAPN3):c.2071G>A (p.Gly691Arg)
|
rs140425651
|
0.00013
|
NM_000157.4(GBA1):c.58A>G (p.Ile20Val)
|
rs143187997
|
0.00013
|
NM_000214.3(JAG1):c.526G>A (p.Val176Ile)
|
rs199674138
|
0.00013
|
NM_000430.4(PAFAH1B1):c.958A>G (p.Ile320Val)
|
rs144659773
|
0.00013
|
NM_001110556.2(FLNA):c.2725G>A (p.Val909Ile)
|
rs199911951
|
0.00013
|
NM_001267550.2(TTN):c.86658G>A (p.Glu28886=)
|
rs760858743
|
0.00013
|
NM_001849.4(COL6A2):c.1489C>A (p.Pro497Thr)
|
rs75581470
|
0.00013
|
NM_002880.4(RAF1):c.94A>G (p.Ile32Val)
|
rs372738063
|
0.00013
|
NM_003036.4(SKI):c.1254C>T (p.Asn418=)
|
rs536126761
|
0.00013
|
NM_003482.4(KMT2D):c.4389C>T (p.Thr1463=)
|
rs372775501
|
0.00013
|
NM_004006.3(DMD):c.8027+7A>T
|
rs72466580
|
0.00013
|
NM_005633.4(SOS1):c.1953A>G (p.Pro651=)
|
rs141507912
|
0.00013
|
NM_014324.6(AMACR):c.438G>A (p.Pro146=)
|
rs140523570
|
0.00013
|
NM_018006.5(TRMU):c.1158G>A (p.Leu386=)
|
rs79874854
|
0.00013
|
NM_024757.5(EHMT1):c.3028G>A (p.Val1010Met)
|
rs200237137
|
0.00013
|
NM_030665.4(RAI1):c.5254G>A (p.Gly1752Arg)
|
rs755572135
|
0.00013
|
NM_080632.3(UPF3B):c.1073G>A (p.Arg358His)
|
rs181034787
|
0.00013
|
NM_000137.4(FAH):c.715A>T (p.Ile239Phe)
|
rs144228661
|
0.00012
|
NM_000271.5(NPC1):c.1695C>T (p.Phe565=)
|
rs373094778
|
0.00012
|
NM_001080476.3(GRXCR1):c.753C>T (p.Ser251=)
|
rs374667597
|
0.00012
|
NM_001267550.2(TTN):c.16113T>C (p.Asn5371=)
|
rs143845692
|
0.00012
|
NM_001267550.2(TTN):c.5198C>T (p.Thr1733Met)
|
rs367700246
|
0.00012
|
NM_004393.6(DAG1):c.286-10del
|
rs747305463
|
0.00012
|
NM_005249.5(FOXG1):c.*4C>T
|
rs774917687
|
0.00012
|
NM_006790.3(MYOT):c.571G>C (p.Gly191Arg)
|
rs199789331
|
0.00012
|
NM_133642.5(LARGE1):c.1599C>T (p.Ile533=)
|
rs12627793
|
0.00012
|
NM_138694.4(PKHD1):c.3804C>T (p.Ala1268=)
|
rs201769990
|
0.00012
|
NM_000271.5(NPC1):c.501A>G (p.Ser167=)
|
rs202148667
|
0.00011
|
NM_000455.5(STK11):c.825G>A (p.Pro275=)
|
rs202011521
|
0.00011
|
NM_000492.4(CFTR):c.738G>A (p.Lys246=)
|
rs35033453
|
0.00011
|
NM_001035.3(RYR2):c.2630A>C (p.His877Pro)
|
rs561321743
|
0.00011
|
NM_001110556.2(FLNA):c.1310G>A (p.Arg437Gln)
|
rs782320818
|
0.00011
|
NM_001267550.2(TTN):c.88510G>A (p.Asp29504Asn)
|
rs376679796
|
0.00011
|
NM_001323289.2(CDKL5):c.2673G>A (p.Gln891=)
|
rs373448935
|
0.00011
|
NM_001848.3(COL6A1):c.2622G>A (p.Ala874=)
|
rs371763977
|
0.00011
|
NM_004625.4(WNT7A):c.399C>T (p.Cys133=)
|
rs367697256
|
0.00011
|
NM_006790.3(MYOT):c.533G>A (p.Arg178His)
|
rs150293853
|
0.00011
|
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala)
|
rs56195342
|
0.00011
|
NM_025114.4(CEP290):c.5521G>A (p.Glu1841Lys)
|
rs200158553
|
0.00011
|
NM_144709.4(PUS10):c.-16+255C>T
|
rs200847026
|
0.00011
|
NM_172107.4(KCNQ2):c.2556G>A (p.Pro852=)
|
rs3810472
|
0.00011
|
NM_182961.4(SYNE1):c.8557A>G (p.Thr2853Ala)
|
rs77853132
|
0.00011
|
NM_201384.3(PLEC):c.12027C>T (p.Arg4009=)
|
rs762178584
|
0.00011
|
NM_206933.4(USH2A):c.13478G>A (p.Arg4493His)
|
rs138879998
|
0.00011
|
NM_000138.5(FBN1):c.2892C>T (p.Asp964=)
|
rs116945525
|
0.00010
|
NM_000152.5(GAA):c.1758G>A (p.Ala586=)
|
rs79795428
|
0.00010
|
NM_000548.5(TSC2):c.1577G>C (p.Ser526Thr)
|
rs376573446
|
0.00010
|
NM_001267550.2(TTN):c.106788A>T (p.Thr35596=)
|
rs369896045
|
0.00010
|
NM_001267550.2(TTN):c.72302C>A (p.Thr24101Asn)
|
rs192962624
|
0.00010
|
NM_001323289.2(CDKL5):c.2157A>T (p.Pro719=)
|
rs200333632
|
0.00010
|
NM_002397.5(MEF2C):c.180C>T (p.Thr60=)
|
rs773278207
|
0.00010
|
NM_003482.4(KMT2D):c.2206C>T (p.Pro736Ser)
|
rs552543556
|
0.00010
|
NM_004006.3(DMD):c.3794G>C (p.Trp1265Ser)
|
rs200213555
|
0.00010
|
NM_004006.3(DMD):c.6614+8G>A
|
rs377508818
|
0.00010
|
NM_004369.4(COL6A3):c.5968C>T (p.Arg1990Trp)
|
rs146546544
|
0.00010
|
NM_005045.4(RELN):c.6553A>T (p.Met2185Leu)
|
rs114686696
|
0.00010
|
NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu)
|
rs76672402
|
0.00010
|
NM_058246.4(DNAJB6):c.602G>A (p.Arg201Lys)
|
rs373070679
|
0.00010
|
NM_000124.4(ERCC6):c.3581A>G (p.Glu1194Gly)
|
rs114479292
|
0.00009
|
NM_000235.4(LIPA):c.539-6T>C
|
rs201898154
|
0.00009
|
NM_000548.5(TSC2):c.4302C>T (p.Gly1434=)
|
rs137854000
|
0.00009
|
NM_000548.5(TSC2):c.5142G>A (p.Gln1714=)
|
rs147147042
|
0.00009
|
NM_001130987.2(DYSF):c.3303C>T (p.Tyr1101=)
|
rs201477760
|
0.00009
|
NM_001267550.2(TTN):c.2230G>A (p.Ala744Thr)
|
rs144639994
|
0.00009
|
NM_001267550.2(TTN):c.42978C>T (p.Tyr14326=)
|
rs369959066
|
0.00009
|
NM_001267550.2(TTN):c.97435C>A (p.Arg32479Ser)
|
rs200148139
|
0.00009
|
NM_001378615.1(CC2D2A):c.3872T>C (p.Ile1291Thr)
|
rs370492044
|
0.00009
|
NM_001378615.1(CC2D2A):c.922T>C (p.Phe308Leu)
|
rs201465430
|
0.00009
|
NM_001849.4(COL6A2):c.138C>T (p.His46=)
|
rs201753549
|
0.00009
|
NM_001966.4(EHHADH):c.268G>A (p.Val90Met)
|
rs56292788
|
0.00009
|
NM_004369.4(COL6A3):c.4032G>A (p.Ser1344=)
|
rs145048734
|
0.00009
|
NM_005122.5(NR1I3):c.182G>A (p.Arg61His)
|
rs148277311
|
0.00009
|
NM_005802.5(TOPORS):c.2314C>T (p.Leu772=)
|
rs371017482
|
0.00009
|
NM_006031.6(PCNT):c.7300C>A (p.Leu2434Ile)
|
rs112633352
|
0.00009
|
NM_007126.5(VCP):c.1875G>T (p.Arg625=)
|
rs201410035
|
0.00009
|
NM_015295.3(SMCHD1):c.54G>C (p.Glu18Asp)
|
rs779165187
|
0.00009
|
NM_022356.4(P3H1):c.327C>T (p.Phe109=)
|
rs370773974
|
0.00009
|
NM_024408.4(NOTCH2):c.1681+9C>A
|
rs192886452
|
0.00009
|
NM_138694.4(PKHD1):c.2162C>T (p.Thr721Met)
|
rs140608845
|
0.00009
|
NM_181332.3(NLGN4X):c.2226G>A (p.Glu742=)
|
rs141662515
|
0.00009
|
NM_182961.4(SYNE1):c.16038A>G (p.Leu5346=)
|
rs192936944
|
0.00009
|
NM_182961.4(SYNE1):c.6969G>A (p.Val2323=)
|
rs140986546
|
0.00009
|
NM_000168.6(GLI3):c.363C>T (p.His121=)
|
rs150295615
|
0.00008
|
NM_001130438.3(SPTAN1):c.2233C>A (p.Gln745Lys)
|
rs769094437
|
0.00008
|
NM_001130438.3(SPTAN1):c.6763C>T (p.Arg2255Cys)
|
rs372779649
|
0.00008
|
NM_002397.5(MEF2C):c.363C>T (p.Asn121=)
|
rs186648089
|
0.00008
|
NM_003179.3(SYP):c.593C>T (p.Thr198Ile)
|
rs199590018
|
0.00008
|
NM_004369.4(COL6A3):c.34G>A (p.Val12Ile)
|
rs137910388
|
0.00008
|
NM_006662.3(SRCAP):c.4105A>G (p.Thr1369Ala)
|
rs751529827
|
0.00008
|
NM_172107.4(KCNQ2):c.2613G>T (p.Arg871Ser)
|
rs587780369
|
0.00008
|
NM_000368.5(TSC1):c.3387C>T (p.Ala1129=)
|
rs200200869
|
0.00007
|
NM_000540.3(RYR1):c.12847G>A (p.Glu4283Lys)
|
rs794728692
|
0.00007
|
NM_001048166.1(STIL):c.3437C>T (p.Ala1146Val)
|
rs3766317
|
0.00007
|
NM_001267550.2(TTN):c.54105G>A (p.Ala18035=)
|
rs371155050
|
0.00007
|
NM_001378615.1(CC2D2A):c.4238G>A (p.Cys1413Tyr)
|
rs146843542
|
0.00007
|
NM_001849.4(COL6A2):c.2880G>A (p.Ser960=)
|
rs375430758
|
0.00007
|
NM_001966.4(EHHADH):c.713A>T (p.Gln238Leu)
|
rs200753408
|
0.00007
|
NM_002691.4(POLD1):c.1503C>T (p.Asn501=)
|
rs371647100
|
0.00007
|
NM_002693.3(POLG):c.3559C>T (p.Arg1187Trp)
|
rs369544574
|
0.00007
|
NM_004380.3(CREBBP):c.1633T>C (p.Leu545=)
|
rs371285951
|
0.00007
|
NM_004385.5(VCAN):c.9454C>G (p.Leu3152Val)
|
rs183984308
|
0.00007
|
NM_133379.5(TTN):c.15280A>C (p.Arg5094=)
|
rs141105907
|
0.00007
|
NM_182914.3(SYNE2):c.3326G>A (p.Ser1109Asn)
|
rs150464227
|
0.00007
|
NM_182961.4(SYNE1):c.3934G>A (p.Glu1312Lys)
|
rs200276242
|
0.00007
|
NM_000214.3(JAG1):c.1655C>T (p.Pro552Leu)
|
rs201785359
|
0.00006
|
NM_000489.6(ATRX):c.2000C>T (p.Pro667Leu)
|
rs61752457
|
0.00006
|
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg)
|
rs754733253
|
0.00006
|
NM_001033855.3(DCLRE1C):c.1894G>A (p.Glu632Lys)
|
rs61757205
|
0.00006
|
NM_001110556.2(FLNA):c.1030G>A (p.Val344Ile)
|
rs782007408
|
0.00006
|
NM_001110792.2(MECP2):c.1107C>T (p.Ser369=)
|
rs61750236
|
0.00006
|
NM_001130823.3(DNMT1):c.3413C>G (p.Ser1138Cys)
|
rs201308454
|
0.00006
|
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val)
|
rs200289511
|
0.00006
|
NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln)
|
rs149391616
|
0.00006
|
NM_001267550.2(TTN):c.53002+10G>A
|
rs370352450
|
0.00006
|
NM_001267550.2(TTN):c.53507G>A (p.Arg17836His)
|
rs373526624
|
0.00006
|
NM_001267550.2(TTN):c.54947C>G (p.Thr18316Ser)
|
rs758527900
|
0.00006
|
NM_001267550.2(TTN):c.75034C>T (p.Arg25012Trp)
|
rs368914555
|
0.00006
|
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His)
|
rs369707906
|
0.00006
|
NM_001267550.2(TTN):c.80944T>C (p.Phe26982Leu)
|
rs200406978
|
0.00006
|
NM_001267550.2(TTN):c.93444C>T (p.Tyr31148=)
|
rs561739832
|
0.00006
|
NM_001374353.1(GLI2):c.315G>A (p.Pro105=)
|
rs139473153
|
0.00006
|
NM_001614.5(ACTG1):c.363+7C>G
|
rs782205549
|
0.00006
|
NM_001848.3(COL6A1):c.2348G>A (p.Arg783Gln)
|
rs200261890
|
0.00006
|
NM_002693.3(POLG):c.1743C>T (p.Asp581=)
|
rs140743000
|
0.00006
|
NM_003193.5(TBCE):c.898+5A>T
|
rs182294717
|
0.00006
|
NM_003482.4(KMT2D):c.11957C>G (p.Ser3986Cys)
|
rs768668663
|
0.00006
|
NM_003482.4(KMT2D):c.15200C>T (p.Thr5067Met)
|
rs767962124
|
0.00006
|
NM_003482.4(KMT2D):c.2204G>T (p.Cys735Phe)
|
rs772901550
|
0.00006
|
NM_004006.3(DMD):c.1184G>A (p.Arg395Gln)
|
rs148511512
|
0.00006
|
NM_022455.5(NSD1):c.4642-7T>C
|
rs183928380
|
0.00006
|
NM_024408.4(NOTCH2):c.1443G>A (p.Leu481=)
|
rs587674318
|
0.00006
|
NM_033337.3(CAV3):c.39C>T (p.Ile13=)
|
rs200562715
|
0.00006
|
NM_133379.5(TTN):c.10775C>T (p.Thr3592Ile)
|
rs184395741
|
0.00006
|
NM_133433.4(NIPBL):c.6589+9A>T
|
rs370709104
|
0.00006
|
NM_138694.4(PKHD1):c.5112C>T (p.Cys1704=)
|
rs202010726
|
0.00006
|
NM_138694.4(PKHD1):c.7810C>T (p.Arg2604Cys)
|
rs201091083
|
0.00006
|
NM_138694.4(PKHD1):c.7977G>A (p.Pro2659=)
|
rs748084543
|
0.00006
|
NM_152564.5(VPS13B):c.7801G>A (p.Glu2601Lys)
|
rs144350008
|
0.00006
|
NM_170707.4(LMNA):c.1770C>T (p.Thr590=)
|
rs397517896
|
0.00006
|
NM_182914.3(SYNE2):c.4785C>A (p.Asn1595Lys)
|
rs199704293
|
0.00006
|
NM_182961.4(SYNE1):c.9117A>C (p.Lys3039Asn)
|
rs77221231
|
0.00006
|
NM_201384.3(PLEC):c.7029G>A (p.Ala2343=)
|
rs559198172
|
0.00006
|
NM_000368.5(TSC1):c.618T>C (p.His206=)
|
rs118203415
|
0.00005
|
NM_000426.4(LAMA2):c.5969-4G>A
|
rs566302197
|
0.00005
|
NM_001110556.2(FLNA):c.4551G>C (p.Gly1517=)
|
rs370476531
|
0.00005
|
NM_001110792.2(MECP2):c.696C>T (p.Leu232=)
|
rs267608512
|
0.00005
|
NM_001136193.2(FASTKD2):c.1353A>G (p.Leu451=)
|
rs369427864
|
0.00005
|
NM_001267550.2(TTN):c.11811T>C (p.Pro3937=)
|
rs571602215
|
0.00005
|
NM_001267550.2(TTN):c.82486G>A (p.Asp27496Asn)
|
rs554231442
|
0.00005
|
NM_001371279.1(REEP1):c.582C>T (p.Ser194=)
|
rs540194528
|
0.00005
|
NM_001378120.1(MBD5):c.2314A>C (p.Asn772His)
|
rs200151142
|
0.00005
|
NM_003482.4(KMT2D):c.9135C>T (p.Asp3045=)
|
rs781693014
|
0.00005
|
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala)
|
rs80356860
|
0.00005
|
NM_013382.7(POMT2):c.2057G>A (p.Arg686Gln)
|
rs200163818
|
0.00005
|
NM_014467.3(SRPX2):c.224A>T (p.Lys75Met)
|
rs767072861
|
0.00005
|
NM_015295.3(SMCHD1):c.925C>G (p.Leu309Val)
|
rs569470518
|
0.00005
|
NM_020975.6(RET):c.3188-9C>T
|
rs551159582
|
0.00005
|
NM_000168.6(GLI3):c.3119A>T (p.Glu1040Val)
|
rs376477553
|
0.00004
|
NM_000543.5(SMPD1):c.1599G>A (p.Pro533=)
|
rs552841217
|
0.00004
|
NM_000553.6(WRN):c.3627T>A (p.Ala1209=)
|
rs780963410
|
0.00004
|
NM_001127222.2(CACNA1A):c.3684G>A (p.Thr1228=)
|
rs368048030
|
0.00004
|
NM_001267550.2(TTN):c.10128G>A (p.Ser3376=)
|
rs755262343
|
0.00004
|
NM_001267550.2(TTN):c.70998A>G (p.Thr23666=)
|
rs767989384
|
0.00004
|
NM_001267550.2(TTN):c.81938G>A (p.Gly27313Glu)
|
rs199670463
|
0.00004
|
NM_001267550.2(TTN):c.89229C>T (p.Ile29743=)
|
rs376853821
|
0.00004
|
NM_001267550.2(TTN):c.99102G>C (p.Trp33034Cys)
|
rs397517778
|
0.00004
|
NM_001849.4(COL6A2):c.1899G>A (p.Leu633=)
|
rs189341312
|
0.00004
|
NM_002473.6(MYH9):c.3214G>A (p.Ala1072Thr)
|
rs532156048
|
0.00004
|
NM_003846.3(PEX11B):c.458G>A (p.Cys153Tyr)
|
rs201973197
|
0.00004
|
NM_004369.4(COL6A3):c.2147G>A (p.Gly716Asp)
|
rs144514259
|
0.00004
|
NM_004562.3(PRKN):c.1000C>T (p.Arg334Cys)
|
rs199657839
|
0.00004
|
NM_005529.7(HSPG2):c.5646G>A (p.Leu1882=)
|
rs533624001
|
0.00004
|
NM_006031.6(PCNT):c.6261G>A (p.Gln2087=)
|
rs181127717
|
0.00004
|
NM_015295.3(SMCHD1):c.333G>A (p.Thr111=)
|
rs761171049
|
0.00004
|
NM_016239.4(MYO15A):c.9518-10G>A
|
rs570587230
|
0.00004
|
NM_030665.4(RAI1):c.719C>T (p.Thr240Ile)
|
rs142646842
|
0.00004
|
NM_170707.4(LMNA):c.1698+25C>T
|
rs727504435
|
0.00004
|
NM_182961.4(SYNE1):c.15451G>A (p.Val5151Met)
|
rs199996504
|
0.00004
|
NM_000053.4(ATP7B):c.2484C>T (p.Gly828=)
|
rs570594838
|
0.00003
|
NM_000152.5(GAA):c.351G>A (p.Leu117=)
|
rs574947353
|
0.00003
|
NM_000368.5(TSC1):c.1218C>T (p.Tyr406=)
|
rs373465241
|
0.00003
|
NM_000548.5(TSC2):c.299C>T (p.Ala100Val)
|
rs375824753
|
0.00003
|
NM_001101.5(ACTB):c.96C>T (p.Pro32=)
|
rs755754152
|
0.00003
|
NM_001110792.2(MECP2):c.417C>G (p.Pro139=)
|
rs782752095
|
0.00003
|
NM_001197104.2(KMT2A):c.10690C>T (p.Arg3564Trp)
|
rs555310772
|
0.00003
|
NM_001267550.2(TTN):c.19818A>G (p.Lys6606=)
|
rs397517492
|
0.00003
|
NM_001267550.2(TTN):c.19922C>A (p.Thr6641Asn)
|
rs747240394
|
0.00003
|
NM_001267550.2(TTN):c.30444G>A (p.Ser10148=)
|
rs367901929
|
0.00003
|
NM_001267550.2(TTN):c.45779T>C (p.Leu15260Pro)
|
rs552053581
|
0.00003
|
NM_001349338.3(FOXP1):c.169C>G (p.Gln57Glu)
|
rs752141860
|
0.00003
|
NM_001370259.2(MEN1):c.1170G>A (p.Pro390=)
|
rs587780841
|
0.00003
|
NM_001844.5(COL2A1):c.3961G>A (p.Glu1321Lys)
|
rs748248022
|
0.00003
|
NM_001966.4(EHHADH):c.1081C>A (p.Pro361Thr)
|
rs186736134
|
0.00003
|
NM_004006.3(DMD):c.1059G>A (p.Ser353=)
|
rs760621626
|
0.00003
|
NM_004006.3(DMD):c.1813-3C>A
|
rs181399181
|
0.00003
|
NM_004380.3(CREBBP):c.701C>T (p.Ala234Val)
|
rs727503892
|
0.00003
|
NM_004565.3(PEX14):c.*7G>T
|
rs367982022
|
0.00003
|
NM_006445.4(PRPF8):c.2619C>T (p.Asn873=)
|
rs760867601
|
0.00003
|
NM_007254.4(PNKP):c.1322C>G (p.Ala441Gly)
|
rs549000007
|
0.00003
|
NM_015295.3(SMCHD1):c.2424A>C (p.Pro808=)
|
rs374039360
|
0.00003
|
NM_017739.4(POMGNT1):c.289C>T (p.Arg97Trp)
|
rs564076183
|
0.00003
|
NM_022455.5(NSD1):c.3154C>T (p.Arg1052Cys)
|
rs748956033
|
0.00003
|
NM_022455.5(NSD1):c.4858G>A (p.Val1620Ile)
|
rs774169673
|
0.00003
|
NM_138694.4(PKHD1):c.3835G>A (p.Ala1279Thr)
|
rs201611688
|
0.00003
|
NM_000070.3(CAPN3):c.1302C>T (p.Asn434=)
|
rs751429914
|
0.00002
|
NM_000152.5(GAA):c.-2C>T
|
rs560511228
|
0.00002
|
NM_000257.4(MYH7):c.5736C>T (p.Ile1912=)
|
rs200728597
|
0.00002
|
NM_000330.4(RS1):c.185-3147C>T
|
rs376557374
|
0.00002
|
NM_001165963.4(SCN1A):c.3450C>T (p.Ser1150=)
|
rs727504137
|
0.00002
|
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp)
|
rs375627540
|
0.00002
|
NM_001267550.2(TTN):c.39085C>A (p.Pro13029Thr)
|
rs397517553
|
0.00002
|
NM_001267550.2(TTN):c.77622T>C (p.Asn25874=)
|
rs766227814
|
0.00002
|
NM_001429.4(EP300):c.5914A>G (p.Met1972Val)
|
rs373725137
|
0.00002
|
NM_001458.5(FLNC):c.1976T>G (p.Leu659Arg)
|
rs576402053
|
0.00002
|
NM_004187.5(KDM5C):c.2662C>T (p.Arg888Cys)
|
rs376775932
|
0.00002
|
NM_004586.3(RPS6KA3):c.285G>A (p.Gln95=)
|
rs398124176
|
0.00002
|
NM_006516.4(SLC2A1):c.708C>T (p.Asp236=)
|
rs566497194
|
0.00002
|
NM_006662.3(SRCAP):c.8035G>A (p.Glu2679Lys)
|
rs765033647
|
0.00002
|
NM_015559.3(SETBP1):c.1933G>A (p.Glu645Lys)
|
rs770454352
|
0.00002
|
NM_017780.4(CHD7):c.3487A>G (p.Met1163Val)
|
rs886044534
|
0.00002
|
NM_053025.4(MYLK):c.2628C>T (p.Arg876=)
|
rs571744275
|
0.00002
|
NM_000137.4(FAH):c.296A>G (p.Asp99Gly)
|
rs547847694
|
0.00001
|
NM_000203.5(IDUA):c.245A>C (p.His82Pro)
|
rs794727239
|
0.00001
|
NM_000388.4(CASR):c.537A>G (p.Gln179=)
|
rs200129212
|
0.00001
|
NM_000443.4(ABCB4):c.1821A>C (p.Val607=)
|
rs546820262
|
0.00001
|
NM_000488.4(SERPINC1):c.914C>A (p.Pro305His)
|
rs549991084
|
0.00001
|
NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu)
|
rs556155962
|
0.00001
|
NM_001035.3(RYR2):c.10155A>G (p.Leu3385=)
|
rs543120030
|
0.00001
|
NM_001099922.3(ALG13):c.1910T>C (p.Met637Thr)
|
rs774331771
|
0.00001
|
NM_001110556.2(FLNA):c.3282C>T (p.Gly1094=)
|
rs369583365
|
0.00001
|
NM_001142800.2(EYS):c.6025A>G (p.Lys2009Glu)
|
rs559078881
|
0.00001
|
NM_001267550.2(TTN):c.11506G>A (p.Val3836Met)
|
rs397517825
|
0.00001
|
NM_001267550.2(TTN):c.40408+7_40408+10dup
|
rs397517560
|
0.00001
|
NM_001267550.2(TTN):c.50363T>C (p.Ile16788Thr)
|
rs397517599
|
0.00001
|
NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu)
|
rs397517612
|
0.00001
|
NM_001267550.2(TTN):c.63981A>G (p.Val21327=)
|
rs397517656
|
0.00001
|
NM_001267550.2(TTN):c.66766T>C (p.Leu22256=)
|
rs752922922
|
0.00001
|
NM_001267550.2(TTN):c.74965G>A (p.Val24989Met)
|
rs567800207
|
0.00001
|
NM_001267550.2(TTN):c.78942T>C (p.Asp26314=)
|
rs560223850
|
0.00001
|
NM_001349338.3(FOXP1):c.1328A>G (p.Tyr443Cys)
|
rs727503936
|
0.00001
|
NM_002471.4(MYH6):c.3393G>A (p.Arg1131=)
|
rs529107714
|
0.00001
|
NM_002547.3(OPHN1):c.2307G>A (p.Gly769=)
|
rs748176965
|
0.00001
|
NM_002968.3(SALL1):c.2825C>A (p.Pro942His)
|
rs751069468
|
0.00001
|
NM_003073.5(SMARCB1):c.606C>T (p.Asp202=)
|
rs727504163
|
0.00001
|
NM_003482.4(KMT2D):c.6349C>T (p.Pro2117Ser)
|
rs758476128
|
0.00001
|
NM_004006.3(DMD):c.3635C>T (p.Ala1212Val)
|
rs142171890
|
0.00001
|
NM_004006.3(DMD):c.7016A>G (p.His2339Arg)
|
rs398124041
|
0.00001
|
NM_004369.4(COL6A3):c.9012C>T (p.Ser3004=)
|
rs199519571
|
0.00001
|
NM_004565.3(PEX14):c.516C>T (p.Ser172=)
|
rs543843635
|
0.00001
|
NM_005045.4(RELN):c.4934T>C (p.Ile1645Thr)
|
rs537366000
|
0.00001
|
NM_005359.6(SMAD4):c.1059C>T (p.Tyr353=)
|
rs863224400
|
0.00001
|
NM_014425.5(INVS):c.3027C>T (p.His1009=)
|
rs201136636
|
0.00001
|
NM_014467.3(SRPX2):c.646G>A (p.Gly216Ser)
|
rs758845090
|
0.00001
|
NM_015102.5(NPHP4):c.3454C>T (p.Pro1152Ser)
|
rs560329867
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2030C>T (p.Thr677Ile)
|
rs532768944
|
0.00001
|
NM_024408.4(NOTCH2):c.3441G>A (p.Glu1147=)
|
rs371875533
|
0.00001
|
NM_024408.4(NOTCH2):c.6516C>T (p.Ser2172=)
|
rs587733506
|
0.00001
|
NM_024747.6(HPS6):c.105T>C (p.Arg35=)
|
rs573488604
|
0.00001
|
NM_031433.4(MFRP):c.*1190C>T
|
rs540768941
|
0.00001
|
NM_133433.4(NIPBL):c.1526C>G (p.Ser509Cys)
|
rs80358352
|
0.00001
|
NM_133433.4(NIPBL):c.42G>A (p.Ala14=)
|
rs727504045
|
0.00001
|
NM_133433.4(NIPBL):c.7463A>G (p.Asn2488Ser)
|
rs794727675
|
0.00001
|
NM_201384.3(PLEC):c.10248C>T (p.Gly3416=)
|
rs200805625
|
0.00001
|
NM_201384.3(PLEC):c.7506G>A (p.Leu2502=)
|
rs187725817
|
0.00001
|
NM_201384.3(PLEC):c.8877C>A (p.Ile2959=)
|
rs573682644
|
0.00001
|
NM_206933.4(USH2A):c.15546C>T (p.Asn5182=)
|
rs546494522
|
0.00001
|
NM_000051.4(ATM):c.1380G>C (p.Thr460=)
|
rs145333518
|
|
NM_000059.4(BRCA2):c.1909+9_1909+10del
|
rs527732001
|
|
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn)
|
rs28897754
|
|
NM_000080.4(CHRNE):c.1033-8_1033-3dup
|
rs761361955
|
|
NM_000088.4(COL1A1):c.1249C>G (p.Pro417Ala)
|
rs72648327
|
|
NM_000088.4(COL1A1):c.3046-20CT[10]
|
rs138425306
|
|
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys)
|
rs375968699
|
|
NM_000136.3(FANCC):c.1485G>A (p.Leu495=)
|
rs56082100
|
|
NM_000195.5(HPS1):c.678_680delinsTGT (p.Ser227Val)
|
rs1554892764
|
|
NM_000218.3(KCNQ1):c.1252-3del
|
rs12720450
|
|
NM_000231.3(SGCG):c.196-7_196-6del
|
rs568365779
|
|
NM_000249.4(MLH1):c.1039-8del
|
rs57509953
|
|
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr)
|
rs63750449
|
|
NM_000260.4(MYO7A):c.2447G>A (p.Arg816His)
|
rs148343670
|
|
NM_000260.4(MYO7A):c.5598C>A (p.Leu1866=)
|
rs111033504
|
|
NM_000260.4(MYO7A):c.6614_6634dup (p.Met2205_Ser2211dup)
|
rs111033388
|
|
NM_000264.5(PTCH1):c.-24GGC[5]
|
rs71366293
|
|
NM_000264.5(PTCH1):c.-24GGC[9]
|
rs71366293
|
|
NM_000266.3(NDP):c.-421_-408CTCTCTCTCTCTCC[1]
|
rs770996360
|
|
NM_000271.5(NPC1):c.1947+10_1947+11insT
|
rs1555634677
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCGGG
|
rs1555634618
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insT
|
rs1555634683
|
|
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)
|
rs55724504
|
|
NM_000272.3(NPHP1):c.625-3dup
|
rs200118387
|
|
NM_000283.4(PDE6B):c.928-9_940dup
|
rs539992414
|
|
NM_000287.4(PEX6):c.969C>T (p.Ile323=)
|
rs143001881
|
|
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn)
|
rs143370956
|
|
NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup)
|
rs750077647
|
|
NM_000303.3(PMM2):c.93C>T (p.Phe31=)
|
rs61730638
|
|
NM_000314.8(PTEN):c.165-24TTTG[2]
|
rs786204877
|
|
NM_000314.8(PTEN):c.210-7_210-3del
|
rs587780544
|
|
NM_000328.3(RPGR):c.2267C>T (p.Ser756Leu)
|
rs766828733
|
|
NM_000337.6(SGCD):c.105G>C (p.Leu35=)
|
rs193922392
|
|
NM_000391.4(TPP1):c.887-10_887-6del
|
rs35039601
|
|
NM_000393.5(COL5A2):c.961-3del
|
rs542134887
|
|
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr)
|
rs28943591
|
|
NM_000451.4(SHOX):c.-55C>T
|
rs772910213
|
|
NM_000452.2(SLC10A2):c.586-4dup
|
rs199940758
|
|
NM_000458.4(HNF1B):c.182T>G (p.Val61Gly)
|
|
|
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
|
|
|
NM_000458.4(HNF1B):c.657C>T (p.Ser219=)
|
rs148713761
|
|
NM_000466.3(PEX1):c.1077G>A (p.Lys359=)
|
rs138905930
|
|
NM_000466.3(PEX1):c.2584-10del
|
rs5885806
|
|
NM_000466.3(PEX1):c.2584-11_2584-10del
|
rs5885806
|
|
NM_000466.3(PEX1):c.468A>G (p.Gln156=)
|
rs149729088
|
|
NM_000492.3(CFTR):c.-288G>C
|
rs139688774
|
|
NM_000492.4(CFTR):c.1357TTG[1] (p.Leu454del)
|
rs397508194
|
|
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)
|
rs1800076
|
|
NM_000492.4(CFTR):c.870-7_870-5del
|
rs759762840
|
|
NM_000501.4(ELN):c.1946_1954dup (p.646GLG[3])
|
rs374813147
|
|
NM_000516.7(GNAS):c.-18GCC[7] (p.Met1_Gly2insAla)
|
rs745433225
|
|
NM_000528.4(MAN2B1):c.2267+8dup
|
rs572289342
|
|
NM_000540.3(RYR1):c.5665GAG[2] (p.Glu1891del)
|
rs559371263
|
|
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg)
|
rs45514196
|
|
NM_000686.5(AGTR2):c.402del (p.Phe134fs)
|
rs387906503
|
|
NM_000702.4(ATP1A2):c.246C>G (p.Pro82=)
|
rs537472446
|
|
NM_000702.4(ATP1A2):c.471T>C (p.Asp157=)
|
rs553035942
|
|
NM_000883.4(IMPDH1):c.1074+6_1074+7delinsTT
|
rs797044629
|
|
NM_000883.4(IMPDH1):c.1457TCT[1] (p.Phe487del)
|
rs564828105
|
|
NM_001004334.4(GPR179):c.4888G>C (p.Glu1630Gln)
|
rs149998444
|
|
NM_001015877.2(PHF6):c.139-11_139-7del
|
rs781657256
|
|
NM_001018113.3(FANCB):c.1105-26TATT[4]
|
rs398123537
|
|
NM_001024630.4(RUNX2):c.159_185del (p.Gln63_Gln71del)
|
rs747537373
|
|
NM_001029896.2(WDR45):c.808C>A (p.Arg270Ser)
|
rs782145062
|
|
NM_001031679.3(MSRB3):c.-118del
|
rs574256598
|
|
NM_001032221.6(STXBP1):c.1548-7_1548-4del
|
rs796053349
|
|
NM_001032382.2(PQBP1):c.393_413del (p.127GHDKSDR[1])
|
rs782547972
|
|
NM_001035.3(RYR2):c.385-9A>C
|
rs140998248
|
|
NM_001035.3(RYR2):c.7161G>A (p.Ala2387=)
|
rs371560909
|
|
NM_001039141.3(TRIOBP):c.1263T>C (p.Asn421=)
|
rs566207993
|
|
NM_001039958.2(MESP2):c.549G>A (p.Gly183=)
|
rs760653588
|
|
NM_001079802.2(FKTN):c.*4388del
|
rs148253503
|
|
NM_001079802.2(FKTN):c.1023G>A (p.Pro341=)
|
rs146967918
|
|
NM_001083961.2(WDR62):c.1641G>T (p.Thr547=)
|
rs2301734
|
|
NM_001101426.4(CRPPA):c.360C>T (p.Val120=)
|
rs183141256
|
|
NM_001110556.2(FLNA):c.5592C>T (p.Asn1864=)
|
rs782315233
|
|
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr)
|
rs61753973
|
|
NM_001110792.2(MECP2):c.6CGC[3] (p.Ala6_Ala8del)
|
rs398123566
|
|
NM_001122630.2(CDKN1C):c.567_572del (p.186_187AP[9])
|
rs1060503860
|
|
NM_001127222.2(CACNA1A):c.2737_2739delinsTCT (p.Pro913Ser)
|
rs886043758
|
|
NM_001127222.2(CACNA1A):c.6657delinsCCAC (p.His2219dup)
|
rs1057518615
|
|
NM_001127644.2(GABRA1):c.857-9dup
|
rs3214859
|
|
NM_001128228.3(TPRN):c.1845AGAGGA[3] (p.Glu620_Glu621dup)
|
rs750560040
|
|
NM_001130438.3(SPTAN1):c.2343C>T (p.Ala781=)
|
rs34084388
|
|
NM_001130438.3(SPTAN1):c.5358-12TC[2]
|
rs769628464
|
|
NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=)
|
rs72758823
|
|
NM_001134407.3(GRIN2A):c.2627T>C (p.Ile876Thr)
|
rs199784503
|
|
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met)
|
rs78631453
|
|
NM_001142301.1(TMEM67):c.2522-6del
|
rs747342409
|
|
NM_001159699.2(FHL1):c.737-3del
|
rs368428875
|
|
NM_001161352.2(KCNMA1):c.117CTC[5] (p.Ser59_Ser60del)
|
rs572827902
|
|
NM_001161352.2(KCNMA1):c.162_173del (p.Ser57_Ser60del)
|
rs754606765
|
|
NM_001161352.2(KCNMA1):c.36CGG[8] (p.Gly20dup)
|
rs760628050
|
|
NM_001163678.2(SHOX2):c.224_232dup (p.Gly75_Gly77dup)
|
rs770635670
|
|
NM_001164508.2(NEB):c.20467-4del
|
rs10687343
|
|
NM_001164508.2(NEB):c.20467-5_20467-4insA
|
rs864309576
|
|
NM_001177316.2(SLC34A3):c.195_215del (p.Arg65_Gly71del)
|
rs532224704
|
|
NM_001177316.2(SLC34A3):c.709G>A (p.Asp237Asn)
|
rs145877051
|
|
NM_001194998.2(CEP152):c.4378_4379del (p.Val1460fs)
|
rs141600901
|
|
NM_001195248.2(APTX):c.484-25_484-3del
|
rs779869639
|
|
NM_001195263.2(PDZD7):c.1752T>C (p.Tyr584=)
|
rs368563439
|
|
NM_001195263.2(PDZD7):c.2319_2336del (p.773_774RS[3])
|
rs397516634
|
|
NM_001197104.2(KMT2A):c.10580G>A (p.Arg3527Gln)
|
rs147844226
|
|
NM_001232.4(CASQ2):c.738-11_738-5del
|
rs56889721
|
|
NM_001244008.2(KIF1A):c.2721GGA[12] (p.Glu917dup)
|
rs10594016
|
|
NM_001256789.3(CACNA1F):c.2415AGAGGAAGA[2] (p.Glu812_Glu814del)
|
rs59355923
|
|
NM_001256789.3(CACNA1F):c.2415AGAGGAAGA[4] (p.Glu812_Glu814dup)
|
rs59355923
|
|
NM_001267550.2(TTN):c.100766-10dup
|
rs749872538
|
|
NM_001267550.2(TTN):c.103365C>T (p.Arg34455=)
|
rs398124462
|
|
NM_001267550.2(TTN):c.13194A>G (p.Gln4398=)
|
rs375347596
|
|
NM_001267550.2(TTN):c.14784C>A (p.Leu4928=)
|
rs373875040
|
|
NM_001267550.2(TTN):c.177C>T (p.Ser59=)
|
rs191057824
|
|
NM_001267550.2(TTN):c.21489C>G (p.Thr7163=)
|
rs376882041
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[3]
|
rs71393436
|
|
NM_001267550.2(TTN):c.29938G>A (p.Ala9980Thr)
|
rs189286381
|
|
NM_001267550.2(TTN):c.30683-6_30683-3del
|
rs368277751
|
|
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr)
|
rs55914517
|
|
NM_001267550.2(TTN):c.32703G>A (p.Glu10901=)
|
rs397517542
|
|
NM_001267550.2(TTN):c.33018A>G (p.Thr11006=)
|
rs765492188
|
|
NM_001267550.2(TTN):c.34708+8C>A
|
rs762808097
|
|
NM_001267550.2(TTN):c.40408+8del
|
rs727504922
|
|
NM_001267550.2(TTN):c.45053C>T (p.Ala15018Val)
|
rs72677221
|
|
NM_001267550.2(TTN):c.51273G>A (p.Arg17091=)
|
rs532589236
|
|
NM_001267550.2(TTN):c.51991G>C (p.Glu17331Gln)
|
rs547986881
|
|
NM_001267550.2(TTN):c.66576C>A (p.Leu22192=)
|
rs187378247
|
|
NM_001267550.2(TTN):c.78068T>C (p.Ile26023Thr)
|
rs572384303
|
|
NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys)
|
rs201489661
|
|
NM_001267550.2(TTN):c.89240C>G (p.Thr29747Ser)
|
rs370568740
|
|
NM_001267550.2(TTN):c.91557T>C (p.Asp30519=)
|
rs202185465
|
|
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His)
|
rs55704830
|
|
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro)
|
rs55704830
|
|
NM_001267550.2(TTN):c.98721C>A (p.Leu32907=)
|
rs375361462
|
|
NM_001277313.2(FMN1):c.3343GAA[2] (p.Glu1117del)
|
rs535428264
|
|
NM_001278182.2(EOMES):c.360CGC[8] (p.Ala130dup)
|
rs3062761
|
|
NM_001278182.2(EOMES):c.360CGC[9] (p.Ala129_Ala130dup)
|
rs3062761
|
|
NM_001291415.2(KDM6A):c.2859-6_2859-5del
|
rs10605935
|
|
NM_001330078.2(NRXN1):c.2507C>T (p.Ala836Val)
|
rs199557987
|
|
NM_001330260.2(SCN8A):c.5943GAG[1] (p.Ter1981=)
|
rs555793953
|
|
NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del)
|
rs782576893
|
|
NM_001369.3(DNAH5):c.7888-6dup
|
rs745582136
|
|
NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr)
|
rs144693221
|
|
NM_001371623.1(TCOF1):c.827_844del (p.Gly276_Glu281del)
|
rs528897827
|
|
NM_001372044.2(SHANK3):c.1530-280dup
|
rs745950788
|
|
NM_001376256.1(CRYM):c.523_524delinsTT (p.Glu175Leu)
|
rs386789728
|
|
NM_001378414.1(HDAC4):c.567G>A (p.Arg189=)
|
rs141942329
|
|
NM_001378454.1(ALMS1):c.36GGA[10] (p.Glu26_Glu28del)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36_74= (p.Leu12_Glu25=)
|
rs55889738
|
|
NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu)
|
rs16892134
|
|
NM_001378615.1(CC2D2A):c.2922+10dup
|
rs752271495
|
|
NM_001379110.1(SLC9A6):c.1857T>C (p.Thr619=)
|
rs398124223
|
|
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del)
|
rs533875300
|
|
NM_001453.3(FOXC1):c.1338CGG[5] (p.Gly454_Gly456del)
|
rs398123612
|
|
NM_001453.3(FOXC1):c.83CGGCGGCCG[1] (p.Ala31_Ala33del)
|
rs756196843
|
|
NM_001457.4(FLNB):c.2773G>T (p.Gly925Cys)
|
rs139875974
|
|
NM_001457.4(FLNB):c.4515-24GT[4]
|
rs151085835
|
|
NM_001608.4(ACADL):c.722G>C (p.Gly241Ala)
|
rs146511220
|
|
NM_001849.4(COL6A2):c.1215T>C (p.Pro405=)
|
rs558981930
|
|
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn)
|
rs535007570
|
|
NM_001849.4(COL6A2):c.1769C>T (p.Thr590Met)
|
rs142709940
|
|
NM_001849.4(COL6A2):c.1817-3del
|
rs149954350
|
|
NM_001849.4(COL6A2):c.1817-4_1817-3dup
|
rs149954350
|
|
NM_001849.4(COL6A2):c.2462-5dup
|
rs797044699
|
|
NM_001849.4(COL6A2):c.2600G>A (p.Arg867Gln)
|
rs61735831
|
|
NM_001854.4(COL11A1):c.652-11_652-10insTTG
|
rs776283234
|
|
NM_001927.4(DES):c.897+4_897+5del
|
rs397516699
|
|
NM_002025.4(AFF2):c.2181C>T (p.Thr727=)
|
rs143927826
|
|
NM_002180.3(IGHMBP2):c.2295C>T (p.His765=)
|
rs149185954
|
|
NM_002230.4(JUP):c.909+6C>T
|
rs193922705
|
|
NM_002334.4(LRP4):c.431-3del
|
rs562071882
|
|
NM_002335.4(LRP5):c.34CTG[11] (p.Leu19_Leu20dup)
|
rs72555376
|
|
NM_002335.4(LRP5):c.34CTG[6] (p.Leu18_Leu20del)
|
rs72555376
|
|
NM_002335.4(LRP5):c.34CTG[8] (p.Leu20del)
|
rs72555376
|
|
NM_002351.5(SH2D1A):c.48C>T (p.Gly16=)
|
rs72610640
|
|
NM_002471.4(MYH6):c.1131C>G (p.Asp377Glu)
|
rs61742472
|
|
NM_002693.3(POLG):c.126GCA[4] (p.Gln49_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[5] (p.Gln50_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[6] (p.Gln51_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[7] (p.Gln52_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[8] (p.Gln53_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.158_166del (p.Gln53_Gln55del)
|
rs769735492
|
|
NM_002693.3(POLG):c.264C>T (p.Phe88=)
|
rs144439703
|
|
NM_002693.3(POLG):c.2994G>C (p.Ser998=)
|
rs567030498
|
|
NM_002857.4(PEX19):c.30C>T (p.Val10=)
|
rs144440223
|
|
NM_002857.4(PEX19):c.726C>T (p.Thr242=)
|
rs564013133
|
|
NM_002900.3(RBP3):c.816C>A (p.Gly272=)
|
rs148432607
|
|
NM_002968.3(SALL1):c.1911G>A (p.Ala637=)
|
rs148595195
|
|
NM_002968.3(SALL1):c.3180C>A (p.Leu1060=)
|
rs142054182
|
|
NM_002968.3(SALL1):c.448AGC[11] (p.Ser159dup)
|
rs113614842
|
|
NM_002968.3(SALL1):c.477_478insAGCGGC (p.Ser159_Gly160insSerGly)
|
rs1555475415
|
|
NM_003289.4(TPM2):c.493-11_493-8del
|
rs528068364
|
|
NM_003383.5(VLDLR):c.-42GGC[9]
|
rs71329437
|
|
NM_003384.3(VRK1):c.1058_1060del (p.Thr353del)
|
rs794727029
|
|
NM_003482.4(KMT2D):c.8148_8149delinsCT (p.Pro2717Ser)
|
rs398123761
|
|
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del)
|
rs397516862
|
|
NM_003742.4(ABCB11):c.1124A>G (p.Asn375Ser)
|
rs572222881
|
|
NM_003742.4(ABCB11):c.77-16dup
|
rs746419453
|
|
NM_003742.4(ABCB11):c.77-8del
|
rs746419453
|
|
NM_003816.3(ADAM9):c.1882-5_1882-4dup
|
rs747974915
|
|
NM_003923.3(FOXH1):c.984C>G (p.Asp328Glu)
|
rs117754060
|
|
NM_003924.4(PHOX2B):c.741_755del (p.Ala256_Ala260del)
|
rs775006915
|
|
NM_004006.3(DMD):c.-188del
|
rs886042325
|
|
NM_004006.3(DMD):c.1869C>G (p.Leu623=)
|
rs1800267
|
|
NM_004006.3(DMD):c.2569C>T (p.Pro857Ser)
|
rs552275776
|
|
NM_004006.3(DMD):c.3603+3dup
|
rs5902031
|
|
NM_004006.3(DMD):c.7653G>A (p.Thr2551=)
|
rs368803197
|
|
NM_004006.3(DMD):c.8757C>T (p.Asn2919=)
|
rs753234741
|
|
NM_004098.4(EMX2):c.161CCG[4] (p.Ala58_Ala59del)
|
rs756693906
|
|
NM_004239.4(TRIP11):c.1849GAG[2] (p.Glu619del)
|
rs540412862
|
|
NM_004260.4(RECQL4):c.2557TGCACC[4] (p.853CT[4])
|
rs548804317
|
|
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln)
|
rs34666647
|
|
NM_004316.4(ASCL1):c.151CAG[4] (p.Gln55_Gln62del)
|
rs3832799
|
|
NM_004316.4(ASCL1):c.151CAG[7] (p.Gln58_Gln62del)
|
rs3832799
|
|
NM_004333.6(BRAF):c.1207C>G (p.Pro403Ala)
|
rs749792302
|
|
NM_004369.4(COL6A3):c.8465-7dup
|
rs111494366
|
|
NM_004369.4(COL6A3):c.8865_8867del (p.Ala2960del)
|
rs757584445
|
|
NM_004380.3(CREBBP):c.4617T>C (p.Tyr1539=)
|
rs727503891
|
|
NM_004380.3(CREBBP):c.6612GCA[4] (p.Gln2216dup)
|
rs779647460
|
|
NM_004380.3(CREBBP):c.712G>C (p.Val238Leu)
|
rs146887252
|
|
NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del)
|
rs397516962
|
|
NM_004484.4(GPC3):c.338-6_338-5del
|
rs370737647
|
|
NM_004586.3(RPS6KA3):c.594-10dup
|
rs755566588
|
|
NM_004612.4(TGFBR1):c.52GCG[10] (p.Ala26dup)
|
rs11466445
|
|
NM_004612.4(TGFBR1):c.52GCG[8] (p.Ala26del)
|
rs11466445
|
|
NM_004621.6(TRPC6):c.2142G>A (p.Thr714=)
|
rs145077205
|
|
NM_004820.5(CYP7B1):c.96C>A (p.Ala32=)
|
rs1277728966
|
|
NM_004984.4(KIF5A):c.2957C>G (p.Pro986Arg)
|
rs113247976
|
|
NM_004985.5(KRAS):c.291-10del
|
rs727503991
|
|
NM_004998.4(MYO1E):c.333-12_333-9del
|
rs200881397
|
|
NM_005027.4(PIK3R2):c.55C>A (p.Arg19=)
|
rs779519249
|
|
NM_005045.4(RELN):c.-24GGC[11] (p.Met1_Glu2insGlyGlyGly)
|
rs55656324
|
|
NM_005120.3(MED12):c.6208CAG[9] (p.Gln2075_Gln2076dup)
|
rs757160341
|
|
NM_005188.4(CBL):c.107ACC[8] (p.His42dup)
|
rs373212940
|
|
NM_005219.5(DIAPH1):c.1821TCC[8] (p.Pro618_Pro620del)
|
rs3075570
|
|
NM_005249.5(FOXG1):c.209_232del (p.Gln70_Pro77del)
|
rs794726920
|
|
NM_005249.5(FOXG1):c.209_235del (p.Gln70_Pro78del)
|
rs587783634
|
|
NM_005249.5(FOXG1):c.386_397dup (p.Glu129_Gly132dup)
|
rs796052456
|
|
NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter)
|
rs121909305
|
|
NM_005422.4(TECTA):c.6402G>T (p.Thr2134=)
|
rs141203939
|
|
NM_005448.2(BMP15):c.13A>C (p.Ser5Arg)
|
rs113099187
|
|
NM_005529.7(HSPG2):c.8336G>A (p.Arg2779Gln)
|
rs529205824
|
|
NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu)
|
rs147114700
|
|
NM_005609.4(PYGM):c.2382C>T (p.Asn794=)
|
rs540487525
|
|
NM_005634.3(SOX3):c.14G>A (p.Arg5Gln)
|
rs112180170
|
|
NM_005634.3(SOX3):c.726_731del (p.Ala247_Ala248del)
|
rs765453930
|
|
NM_005634.3(SOX3):c.732delinsCGCC (p.Ala248dup)
|
rs794726924
|
|
NM_006005.3(WFS1):c.114C>T (p.Ser38=)
|
rs531593902
|
|
NM_006015.6(ARID1A):c.5542G>T (p.Gly1848Trp)
|
rs140055856
|
|
NM_006031.6(PCNT):c.4571C>G (p.Pro1524Arg)
|
rs35513449
|
|
NM_006031.6(PCNT):c.5074G>A (p.Val1692Ile)
|
rs113342730
|
|
NM_006208.3(ENPP1):c.313+9_313+15del
|
rs1388703734
|
|
NM_006642.5(SDCCAG8):c.1094G>A (p.Arg365Lys)
|
rs115098969
|
|
NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1])
|
rs548231613
|
|
NM_006790.3(MYOT):c.343G>T (p.Ala115Ser)
|
rs114194130
|
|
NM_007214.5(SEC63):c.340-12_340-11del
|
rs139413431
|
|
NM_007254.4(PNKP):c.1286_1298+6dup
|
rs760249644
|
|
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln)
|
rs376854895
|
|
NM_007294.4(BRCA1):c.3600G>T (p.Gln1200His)
|
rs56214134
|
|
NM_012254.3(SLC27A5):c.1940G>T (p.Arg647Leu)
|
rs564295346
|
|
NM_012469.4(PRPF6):c.2431+9del
|
rs779390592
|
|
NM_014141.6(CNTNAP2):c.1566G>A (p.Gln522=)
|
rs535454043
|
|
NM_014141.6(CNTNAP2):c.551-8dup
|
rs370377093
|
|
NM_014244.5(ADAMTS2):c.80_88dup (p.Leu27_Pro29dup)
|
rs775509290
|
|
NM_014319.5(LEMD3):c.240_263del (p.Pro81_Gly88del)
|
rs756800816
|
|
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu)
|
rs148286091
|
|
NM_014491.4(FOXP2):c.1283G>T (p.Ser428Ile)
|
rs727503937
|
|
NM_014491.4(FOXP2):c.1770-4del
|
rs398005923
|
|
NM_014491.4(FOXP2):c.453GCA[4] (p.Gln191del)
|
rs776565646
|
|
NM_014491.4(FOXP2):c.471GCA[5] (p.Gln191dup)
|
rs762779073
|
|
NM_014780.5(CUL7):c.533G>T (p.Arg178Leu)
|
rs183865568
|
|
NM_014795.4(ZEB2):c.1863C>A (p.Val621=)
|
rs727504225
|
|
NM_014845.6(FIG4):c.2377-11_2377-10del
|
rs200535694
|
|
NM_014918.5(CHSY1):c.666G>A (p.Gly222=)
|
rs74545602
|
|
NM_015102.5(NPHP4):c.2021G>T (p.Arg674Leu)
|
rs375416303
|
|
NM_015102.5(NPHP4):c.3144C>G (p.Ala1048=)
|
rs540738356
|
|
NM_015166.4(MLC1):c.654C>A (p.Asn218Lys)
|
rs41302601
|
|
NM_015311.3(OBSL1):c.4005C>T (p.Asp1335=)
|
rs375716830
|
|
NM_015346.4(ZFYVE26):c.2067C>T (p.Leu689=)
|
rs141880939
|
|
NM_015884.4(MBTPS2):c.348CTCTTCTTCCTCTTCCTC[1] (p.Ser131_Ser136del)
|
rs762761040
|
|
NM_015910.7(WDPCP):c.385-3del
|
rs559429215
|
|
NM_018451.5(CENPJ):c.1908C>G (p.Arg636=)
|
rs61743613
|
|
NM_018451.5(CENPJ):c.2992-17dup
|
rs35599563
|
|
NM_020223.4(FAM20C):c.200C>A (p.Pro67His)
|
rs538469200
|
|
NM_020751.3(COG6):c.-17dup
|
rs67765306
|
|
NM_020822.3(KCNT1):c.254+20delinsGGC
|
rs1554763415
|
|
NM_020822.3(KCNT1):c.2944-52CTCC[4]
|
rs55843930
|
|
NM_020822.3(KCNT1):c.2944-52CTCC[5]
|
rs55843930
|
|
NM_020822.3(KCNT1):c.3178-26GCCCT[6]
|
rs757968008
|
|
NM_021072.4(HCN1):c.203GCG[10] (p.Gly72_Gly74dup)
|
rs747975797
|
|
NM_021072.4(HCN1):c.203GCG[8] (p.Gly74dup)
|
rs747975797
|
|
NM_022039.4(FBXW4):c.485AGG[8] (p.Glu168dup)
|
rs560966094
|
|
NM_022356.4(P3H1):c.2148= (p.Gly716=)
|
rs4660662
|
|
NM_022369.4(STRA6):c.1605C>A (p.Leu535=)
|
rs141004067
|
|
NM_024408.4(NOTCH2):c.4999G>A (p.Val1667Ile)
|
rs17024517
|
|
NM_024408.4(NOTCH2):c.4999G>T (p.Val1667Phe)
|
rs17024517
|
|
NM_024596.5(MCPH1):c.2256C>T (p.Arg752=)
|
rs35999761
|
|
NM_024596.5(MCPH1):c.305G>C (p.Ser102Thr)
|
rs2290145
|
|
NM_030665.4(RAI1):c.139G>A (p.Ala47Thr)
|
rs398124413
|
|
NM_032119.4(ADGRV1):c.18433-5dup
|
rs35858094
|
|
NM_032119.4(ADGRV1):c.18433-7_18433-5del
|
rs35858094
|
|
NM_032119.4(ADGRV1):c.7176C>T (p.Ser2392=)
|
rs111033452
|
|
NM_032119.4(ADGRV1):c.8730+21dup
|
rs60522638
|
|
NM_033056.4(PCDH15):c.5278_5286del (p.Pro1760_Pro1762del)
|
rs373916538
|
|
NM_033087.4(ALG2):c.760T>C (p.Leu254=)
|
rs62562374
|
|
NM_033641.4(COL4A6):c.1379G>T (p.Arg460Leu)
|
rs34740537
|
|
NM_053025.4(MYLK):c.4289-10_4289-9dup
|
rs41431347
|
|
NM_058246.4(DNAJB6):c.948G>A (p.Ser316=)
|
rs565527346
|
|
NM_080680.3(COL11A2):c.2584-5del
|
rs555657704
|
|
NM_133379.5(TTN):c.14194T>A (p.Ser4732Thr)
|
rs376557941
|
|
NM_133379.5(TTN):c.15318T>C (p.Tyr5106=)
|
rs569499266
|
|
NM_133379.5(TTN):c.16142G>A (p.Arg5381His)
|
rs369189673
|
|
NM_133433.4(NIPBL):c.862C>A (p.Pro288Thr)
|
rs546188623
|
|
NM_133642.5(LARGE1):c.1776G>T (p.Met592Ile)
|
rs576967464
|
|
NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser)
|
rs141790557
|
|
NM_138694.4(PKHD1):c.2934G>A (p.Gln978=)
|
rs536715802
|
|
NM_138694.4(PKHD1):c.4844C>T (p.Thr1615Met)
|
rs147529495
|
|
NM_139058.3(ARX):c.306GGC[8] (p.Ala114_Ala115del)
|
rs387906492
|
|
NM_139248.3(LIPH):c.1135C>T (p.Leu379Phe)
|
rs533334084
|
|
NM_144599.5(NIPA1):c.24GGC[6] (p.Ala15_Ala16del)
|
rs531550505
|
|
NM_144599.5(NIPA1):c.24GGC[9] (p.Ala16dup)
|
rs531550505
|
|
NM_145239.3(PRRT2):c.647C>A (p.Pro216His)
|
rs76335820
|
|
NM_170699.3(GPBAR1):c.157TTC[1] (p.Phe54del)
|
rs767819043
|
|
NM_172245.4(CSF2RA):c.774_780+10dup
|
rs377345813
|
|
NM_181332.3(NLGN4X):c.959A>G (p.Asn320Ser)
|
rs369373885
|
|
NM_182914.3(SYNE2):c.1129-6_1129-4dup
|
rs34440267
|
|
NM_182914.3(SYNE2):c.1129-7_1129-4del
|
rs34440267
|
|
NM_182961.4(SYNE1):c.11030G>A (p.Cys3677Tyr)
|
rs148028681
|
|
NM_182961.4(SYNE1):c.1483A>G (p.Thr495Ala)
|
rs200954103
|
|
NM_182961.4(SYNE1):c.16984C>A (p.Arg5662Ser)
|
rs145899734
|
|
NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg)
|
rs150376715
|
|
NM_182961.4(SYNE1):c.18153C>T (p.Ala6051=)
|
rs201090220
|
|
NM_182961.4(SYNE1):c.20863-3dup
|
rs755011653
|
|
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu)
|
rs149901087
|
|
NM_194318.4(B3GLCT):c.71-5del
|
rs398022187
|
|
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)
|
rs398124615
|
|
NM_201384.3(PLEC):c.2178+9C>T
|
rs114256617
|
|
NM_201384.3(PLEC):c.3746_3747delinsAA (p.Arg1249Gln)
|
rs797044698
|
|
NM_201384.3(PLEC):c.6318G>A (p.Gln2106=)
|
rs556328818
|
|
NM_203486.3(DLL3):c.616C>G (p.Pro206Ala)
|
rs376905666
|
|
NM_206933.4(USH2A):c.*4A>G
|
rs530405236
|
|
NM_207346.3(TSEN54):c.1166_1167delinsCC (p.Gln389Pro)
|
rs886043264
|
|
NM_207361.6(FREM2):c.3035_3040dup (p.Gly1012_Ser1013dup)
|
rs570476408
|
|
Single allele
|
|
|