ClinVar Miner

List of variants reported as likely benign by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3052
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HGVS dbSNP gnomAD frequency
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

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