ClinVar Miner

List of variants reported as benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12347
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HGVS dbSNP gnomAD frequency
NM_001129.5(AEBP1):c.2218-37dup rs11377645 1.00000
NM_005012.4(ROR1):c.1170G>T (p.Ala390=) rs2762833 1.00000
NM_144508.5(KNL1):c.322+123dup rs11427985 1.00000
NM_004100.5(EYA4):c.*1264T>A rs9483585 0.99999
NM_080680.3(COL11A2):c.1360-7A>C rs3129201 0.99999
NM_173477.5(USH1G):c.*371= rs1288389465 0.99999
NM_018972.4(GDAP1):c.694+24C>T rs4463412 0.99998
NM_000208.4(INSR):c.5C>G (p.Ala2Gly) rs7508518 0.99996
NM_001081.4(CUBN):c.8150C>G (p.Ser2717Trp) rs2796835 0.99996
NM_001367624.2(ZNF469):c.3153T>C (p.Ile1051=) rs9924504 0.99996
NM_004813.4(PEX16):c.346G>A (p.Val116Ile) rs10742772 0.99994
NM_207361.6(FREM2):c.2233= (p.Pro745=) rs2496423 0.99994
NM_207361.6(FREM2):c.576G>A (p.Glu192=) rs1868464 0.99992
NM_000211.5(ITGB2):c.1062= (p.His354=) rs235330 0.99991
NM_001367624.2(ZNF469):c.10990= (p.Ala3664=) rs904783 0.99962
NM_030928.4(CDT1):c.700T>C (p.Cys234Arg) rs507329 0.99944
NM_024649.5(BBS1):c.-72C>G rs1791688 0.99902
NM_177398.4(LMX1A):c.1050T>C (p.Asp350=) rs1354509 0.99887
NM_001267550.2(TTN):c.10726= (p.Thr3576=) rs6433728 0.99876
NM_000123.4(ERCC5):c.3157G>C (p.Gly1053Arg) rs9514066 0.99822
NM_003701.4(TNFSF11):c.-127C>G rs9533157 0.99807
NM_004525.3(LRP2):c.63G>C (p.Ala21=) rs1559014 0.99771
NM_001081.4(CUBN):c.6485G>A (p.Cys2162Tyr) rs1276712 0.99748
NM_004004.6(GJB2):c.*1277T>C rs7988691 0.99748
NM_015702.3(MMADHC):c.*89T>C rs6742604 0.99742
NM_002241.5(KCNJ10):c.*2040C>G rs2486254 0.99734
NM_001111.5(ADAR):c.78G>A (p.Arg26=) rs1802645 0.99723
NM_018136.5(ASPM):c.7480T>C (p.Tyr2494His) rs964201 0.99668
NM_001329943.3(KIAA0586):c.1119G>A (p.Ser373=) rs1748971 0.99666
NM_015981.4(CAMK2A):c.158-19A>C rs891938 0.99657
NM_032237.5(POMK):c.282+34C>A rs5024011 0.99646
NM_138694.4(PKHD1):c.*374T>C rs2784201 0.99624
NM_001367624.2(ZNF469):c.8627A>G (p.His2876Arg) rs1983014 0.99622
NM_001111.5(ADAR):c.298A>G (p.Arg100Gly) rs1466731 0.99604
NM_001367624.2(ZNF469):c.1529G>C (p.Gly510Ala) rs7199961 0.99603
NM_001267550.2(TTN):c.67246G>C (p.Ala22416Pro) rs4145333 0.99572
NM_001379180.1(ESRRB):c.948T>C (p.Tyr316=) rs2361293 0.99538
NM_004937.3(CTNS):c.*738T>G rs224562 0.99537
NM_031885.5(BBS2):c.209G>A (p.Ser70Asn) rs4784677 0.99534
NM_020661.4(AICDA):c.-84A>G rs1345004 0.99525
NM_025074.7(FRAS1):c.10649-29T>A rs931604 0.99498
NM_016239.4(MYO15A):c.7185T>C (p.Phe2395=) rs2955379 0.99481
NM_015404.4(WHRN):c.2256= (p.Gln752=) rs6478078 0.99456
NM_003701.4(TNFSF11):c.*264G>T rs346575 0.99437
NM_018972.4(GDAP1):c.*797A>G rs7007283 0.99395
NM_018972.4(GDAP1):c.117+28G>A rs4321999 0.99293
NM_198428.3(BBS9):c.1330-62C>T rs9785054 0.99266
NM_020921.4(NIN):c.933G>C (p.Leu311=) rs8020503 0.99252
NM_020921.4(NIN):c.5628+5T>C rs3015485 0.99236
NM_005422.4(TECTA):c.5171G>A (p.Ser1724Asn) rs526433 0.99235
NM_001127649.3(PEX26):c.*2281T>C rs362209 0.99208
NM_016529.6(ATP8A2):c.2286G>C (p.Leu762=) rs6491088 0.99194
NM_004999.4(MYO6):c.817-21G>A rs7760587 0.99163
NM_001124758.3(SPNS2):c.935+26T>C rs9892232 0.99161
NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly) rs2515569 0.99154
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val) rs2147377 0.99149
NM_000023.4(SGCA):c.37+66C>T rs9911548 0.99075
NM_000391.4(TPP1):c.1075+28T>C rs7943955 0.98952
NM_004525.3(LRP2):c.79+15A>G rs1559013 0.98894
NM_024915.4(GRHL2):c.-24C>G rs515622 0.98894
NM_003937.3(KYNU):c.955+26C>T rs6430000 0.98885
NM_004260.4(RECQL4):c.3127T>C (p.Leu1043=) rs4925828 0.98841
NM_021971.4(GMPPB):c.551A>G (p.Gln184Arg) rs1466685 0.98834
NM_001367624.2(ZNF469):c.11856C>T (p.Ser3952=) rs4782362 0.98833
NM_002618.4(PEX13):c.*358G>A rs1177230 0.98833
NM_001042384.2(CEP63):c.1330-16A>G rs4586863 0.98825
NM_005866.4(SIGMAR1):c.*31A>G rs4879809 0.98825
NM_001080414.4(CCDC88C):c.1527+128A>G rs1285766 0.98802
NM_001367624.2(ZNF469):c.*788G>A rs3894713 0.98791
NM_006946.4(SPTBN2):c.2473A>G (p.Ser825Gly) rs4930388 0.98751
NM_015311.3(OBSL1):c.4836A>G (p.Thr1612=) rs10932813 0.98738
NM_016529.6(ATP8A2):c.3184-88G>A rs9511998 0.98717
NM_001378789.1(CERS3):c.1108A>G (p.Arg370Gly) rs2439928 0.98616
NM_004618.5(TOP3A):c.1282-21G>A rs6502645 0.98602
NM_014363.6(SACS):c.10338G>A (p.Gln3446=) rs2737701 0.98600
NM_000318.3(PEX2):c.550T>C (p.Cys184Arg) rs10087163 0.98578
NM_006996.3(SLC19A2):c.*60G>A rs2678166 0.98575
NM_000067.2(CA2):c.-181A>T rs11261477 0.98543
NM_004260.4(RECQL4):c.274T>C (p.Ser92Pro) rs2721190 0.98532
NM_000144.5(FXN):c.54A>G (p.Pro18=) rs2481598 0.98511
NM_001122659.3(EDNRB):c.552T>C (p.Ser184=) rs5348 0.98435
NM_006907.4(PYCR1):c.903A>G (p.Ser301=) rs61747618 0.98394
NM_000083.3(CLCN1):c.352G>T (p.Gly118Trp) rs10282312 0.98349
NM_016356.5(DCDC2):c.426-13C>T rs807703 0.98337
NM_015028.4(TNIK):c.2331G>C (p.Ala777=) rs6444960 0.98309
NM_003672.4(CDC14A):c.-47T>C rs594529 0.98301
NM_001267550.2(TTN):c.23223G>A (p.Gln7741=) rs2562831 0.98238
NM_001267550.2(TTN):c.14610C>T (p.Ser4870=) rs2742348 0.98231
NM_015404.4(WHRN):c.1091= (p.His364=) rs10817610 0.98173
NM_000318.3(PEX2):c.*1194A>G rs4311633 0.98172
NM_005529.7(HSPG2):c.4029+32T>A rs2501266 0.98165
NM_000288.4(PEX7):c.340-71G>A rs927181 0.98050
NM_015311.3(OBSL1):c.5413+31T>A rs4672933 0.98019
NM_005236.3(ERCC4):c.974-7G>A rs254942 0.97995
NM_032575.3(GLIS2):c.864T>C (p.Tyr288=) rs669561 0.97986
NM_001366722.1(GRIP1):c.2464+15T>C rs7970076 0.97982
NM_018249.6(CDK5RAP2):c.-3G>T rs932975 0.97921
NM_000091.5(COL4A3):c.442-88A>G rs4321358 0.97899
NM_018075.5(ANO10):c.1915-5852T>C rs6441771 0.97895
NM_014780.5(CUL7):c.2439A>G (p.Gln813=) rs9394939 0.97892
NM_014780.5(CUL7):c.2438A>G (p.Gln813Arg) rs9381231 0.97891
NM_018131.5(CEP55):c.1191+89A>G rs7068719 0.97891
NM_021116.4(ADCY1):c.2718+58G>A rs2461114 0.97889
NM_005529.7(HSPG2):c.1912A>G (p.Met638Val) rs1874792 0.97869
NM_025074.7(FRAS1):c.470-35T>C rs1017646 0.97862
NM_001384474.1(LOXHD1):c.4096-59A>G rs436433 0.97854
NM_000070.3(CAPN3):c.*134C>T rs3098423 0.97772
NM_001099287.2(NIPAL4):c.1116T>C (p.Val372=) rs4704870 0.97772
NM_001171.6(ABCC6):c.3633+100A>C rs3851721 0.97755
NM_001171.6(ABCC6):c.2787+62T>C rs11866320 0.97736
NM_001329943.3(KIAA0586):c.3166C>G (p.Pro1056Ala) rs1617510 0.97670
NM_001017420.3(ESCO2):c.1013+35G>A rs1824449 0.97666
NM_001077365.2(POMT1):c.856-49T>G rs4740163 0.97653
NM_006019.4(TCIRG1):c.1245G>C (p.Leu415=) rs2471829 0.97643
NM_000553.6(WRN):c.3572+25_3572+26insC rs3087415 0.97612
NM_001171.6(ABCC6):c.2788-127A>G rs7201980 0.97599
NM_001329943.3(KIAA0586):c.1254-25G>A rs1743721 0.97577
NM_001329943.3(KIAA0586):c.2254+25A>G rs1743716 0.97575
NM_001329943.3(KIAA0586):c.2528T>C (p.Leu843Pro) rs1748986 0.97574
NM_002913.5(RFC1):c.4-26G>A rs4975007 0.97561
NM_004393.6(DAG1):c.41C>G (p.Ser14Trp) rs2131107 0.97526
NM_004393.6(DAG1):c.285+42T>C rs2329024 0.97521
NM_001171.6(ABCC6):c.2788-154T>C rs6498608 0.97501
NM_198428.3(BBS9):c.1329+1606C>T rs6974593 0.97489
NM_002796.3(PSMB4):c.495-40T>C rs2495391 0.97364
NM_001171.6(ABCC6):c.3882+85C>T rs3896244 0.97343
NM_001267550.2(TTN):c.9879A>G (p.Glu3293=) rs4894043 0.97302
NM_002473.6(MYH9):c.3429T>G (p.Ala1143=) rs710181 0.97278
NM_003047.5(SLC9A1):c.2205A>G (p.Glu735=) rs4418629 0.97243
NM_025074.7(FRAS1):c.7132A>G (p.Lys2378Glu) rs7684722 0.97162
NM_032119.4(ADGRV1):c.16279G>A (p.Val5427Met) rs2438378 0.97114
NM_001124758.3(SPNS2):c.1443+32C>G rs1076071 0.97077
NM_003047.5(SLC9A1):c.*2A>G rs4266911 0.97068
NM_144992.5(VWA3B):c.3734G>A (p.Arg1245Lys) rs7587534 0.96955
NM_001171.6(ABCC6):c.2542A>G (p.Met848Val) rs6416668 0.96848
NM_001039141.3(TRIOBP):c.6324+46C>G rs5756810 0.96820
NM_015311.3(OBSL1):c.4395T>C (p.Asp1465=) rs10932816 0.96819
NM_001039141.3(TRIOBP):c.4129T>C (p.Trp1377Arg) rs8140958 0.96815
NM_020779.4(WDR35):c.2824-14G>T rs1191779 0.96807
NM_025132.4(WDR19):c.603+23C>T rs1451817 0.96807
NM_001199563.2(BVES):c.*114G>A rs221657 0.96643
NM_015665.6(AAAS):c.1088-59A>G rs4759287 0.96514
NM_001042517.2(DIAPH3):c.3028-4_3028-3insGTAA rs10665848 0.96433
NM_005876.5(SPEG):c.9462-27C>T rs907146 0.96294
NM_138694.4(PKHD1):c.1185T>C (p.Asp395=) rs1896976 0.96234
NM_177400.3(NKX6-2):c.626T>C (p.Val209Ala) rs2804003 0.96211
NM_138694.4(PKHD1):c.2279+57A>G rs9395759 0.96175
NM_018249.6(CDK5RAP2):c.-19T>C rs932974 0.96160
NM_000553.6(WRN):c.96+26T>C rs2737316 0.96130
NM_015311.3(OBSL1):c.4733A>G (p.Gln1578Arg) rs10932814 0.96074
NM_014806.5(RUSC2):c.217A>G (p.Thr73Ala) rs1535422 0.96071
NM_014956.5(CEP164):c.4299G>T (p.Ser1433=) rs522885 0.96045
NM_003839.4(TNFRSF11A):c.933A>G (p.Thr311=) rs8092336 0.95903
NM_004565.3(PEX14):c.169+34A>G rs2480779 0.95850
NM_033028.5(BBS4):c.906T>C (p.Phe302=) rs12914333 0.95849
NM_025074.7(FRAS1):c.7371+11T>C rs7664505 0.95846
NM_033028.5(BBS4):c.1036+114G>A rs9806635 0.95845
NM_138694.4(PKHD1):c.5608T>G (p.Leu1870Val) rs2435322 0.95778
NM_033028.5(BBS4):c.1248+68G>A rs12324395 0.95651
NM_153717.3(EVC):c.769C>T (p.Leu257=) rs6446393 0.95639
NM_153676.4(USH1C):c.2656-260A>G rs7108947 0.95611
NM_001039876.3(SYNE4):c.834G>C (p.Gln278His) rs2285422 0.95594
NM_013335.4(GMPPA):c.1162+37T>A rs10932808 0.95585
NM_001378615.1(CC2D2A):c.4065+28A>T rs6832789 0.95451
NM_012208.4(HARS2):c.1461+36A>G rs2530234 0.95353
NM_005529.7(HSPG2):c.324C>T (p.Phe108=) rs2501260 0.95305
NM_000426.4(LAMA2):c.381C>A (p.Thr127=) rs4404787 0.95273
NM_001081.4(CUBN):c.593+33dup rs11409967 0.95095
NM_024753.5(TTC21B):c.826A>G (p.Thr276Ala) rs7592429 0.95088
NM_001171.6(ABCC6):c.1432-48G>A rs7193932 0.95000
NM_000318.3(PEX2):c.*2377A>G rs4388434 0.94963
NM_000318.3(PEX2):c.*727T>C rs4610720 0.94956
NM_173551.5(ANKS6):c.1930G>A (p.Val644Ile) rs6415847 0.94956
NM_207361.6(FREM2):c.5410+25T>C rs2442370 0.94938
NM_017739.4(POMGNT1):c.1867A>G (p.Met623Val) rs6659553 0.94881
NM_001267550.2(TTN):c.3884C>T (p.Ser1295Leu) rs1552280 0.94745
NM_015275.3(WASHC4):c.2701G>A (p.Val901Ile) rs1663564 0.94695
NM_003823.4(TNFRSF6B):c.255A>G (p.Leu85=) rs2738787 0.94528
NM_005529.7(HSPG2):c.3302+13G>A rs2501265 0.94485
NM_033028.5(BBS4):c.77-6G>A rs8033604 0.94438
NM_033028.5(BBS4):c.76+19G>T rs4777527 0.94399
NM_015665.6(AAAS):c.251+59A>C rs4759232 0.94301
NM_001267550.2(TTN):c.4480+6C>T rs719201 0.94227
NM_015981.4(CAMK2A):c.1410T>C (p.Asp470=) rs2241694 0.94205
NM_015665.6(AAAS):c.689+71C>G rs7953255 0.93983
NM_012210.4(TRIM32):c.*129C>T rs3019 0.93964
NM_001048174.2(MUTYH):c.420+35A>G rs3219487 0.93920
NM_033109.5(PNPT1):c.1247+29C>T rs782604 0.93874
NM_025074.7(FRAS1):c.604-8G>A rs2867014 0.93589
NM_001048174.2(MUTYH):c.1393-40C>G rs3219493 0.93580
NM_005529.7(HSPG2):c.2109C>T (p.Ala703=) rs1874793 0.93527
NM_005529.7(HSPG2):c.2294A>G (p.Asn765Ser) rs989994 0.93519
NM_032119.4(ADGRV1):c.16031A>G (p.Glu5344Gly) rs2438374 0.93517
NM_144772.3(NAXE):c.717A>C (p.Ile239=) rs6427322 0.93471
NM_144772.3(NAXE):c.664+28G>A rs6427321 0.93468
NM_144772.3(NAXE):c.804G>A (p.Glu268=) rs6668178 0.93461
NM_144772.3(NAXE):c.843C>T (p.Thr281=) rs942963 0.93461
NM_144772.3(NAXE):c.*22T>C rs1270 0.93458
NM_144772.3(NAXE):c.291+7G>A rs1925949 0.93449
NM_144772.3(NAXE):c.55G>C (p.Val19Leu) rs7516274 0.93444
NM_015665.6(AAAS):c.252-142C>A rs7960963 0.93441
NM_000207.3(INS):c.187+11T>C rs5506 0.93263
NM_014956.5(CEP164):c.1482T>C (p.Pro494=) rs897836 0.93246
NM_003672.4(CDC14A):c.1251-139A>G rs2270692 0.93245
NM_015602.4(TOR1AIP1):c.1503G>A (p.Ala501=) rs627897 0.93133
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857 0.93013
NM_000091.5(COL4A3):c.2375-66C>T rs6436671 0.92995
NM_033109.5(PNPT1):c.867-47T>A rs782631 0.92991
NM_000091.5(COL4A3):c.2223+100G>T rs6729152 0.92901
NM_198999.3(SLC26A5):c.1986+30T>C rs10273883 0.92836
NM_022095.4(ZNF335):c.201+10C>G rs6017715 0.92719
NM_005529.7(HSPG2):c.1655-35G>A rs921847 0.92710
NM_025114.4(CEP290):c.6645+67G>A rs2471512 0.92687
NM_201253.3(CRB1):c.1410A>G (p.Leu470=) rs3902057 0.92528
NM_022095.4(ZNF335):c.2021-37C>T rs3746507 0.92505
NM_022124.6(CDH23):c.1753-43T>C rs1227042 0.92381
NM_002160.4(TNC):c.1616A>G (p.Gln539Arg) rs1757095 0.92370
NM_000260.4(MYO7A):c.6558+51G>T rs948959 0.92365
NM_015665.6(AAAS):c.124-33A>C rs7298879 0.92298
NM_015665.6(AAAS):c.124-20T>C rs4759231 0.92286
NM_024596.5(MCPH1):c.513G>T (p.Arg171Ser) rs2442513 0.92258
NM_001278293.3(ARL6):c.*225G>C rs4857294 0.92035
NM_001081.4(CUBN):c.594-34G>A rs2295813 0.91875
NM_016219.5(MAN1B1):c.176A>G (p.Asn59Ser) rs968733 0.91637
NM_001130987.2(DYSF):c.5885-16T>C rs1863812 0.91575
NM_015665.6(AAAS):c.855C>T (p.Phe285=) rs1546808 0.91562
NM_000334.4(SCN4A):c.1570A>G (p.Ser524Gly) rs6504191 0.91477
NM_000360.4(TH):c.695+99G>A rs7925924 0.91244
NM_000360.4(TH):c.696-126C>G rs7942881 0.91226
NM_032119.4(ADGRV1):c.18625-7T>C rs7726023 0.91136
NM_000023.4(SGCA):c.*6T>C rs2696288 0.91073
NM_016302.4(CRBN):c.750+32A>G rs1705789 0.91072
NM_001080414.4(CCDC88C):c.5975T>C (p.Leu1992Pro) rs941920 0.90936
NM_152384.3(BBS5):c.-40G>C rs1879466 0.90865
NM_022336.4(EDAR):c.655+30T>C rs260630 0.90817
NM_000360.4(TH):c.1105-78A>G rs6578990 0.90803
NM_014813.3(LRIG2):c.2124A>C (p.Thr708=) rs1216793 0.90801
NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala) rs8037349 0.90740
NM_005708.5(GPC6):c.*3833G>C rs7986904 0.90702
NM_206933.4(USH2A):c.4082-66A>C rs386851 0.90510
NM_005529.7(HSPG2):c.1507+38A>G rs4654994 0.90430
NM_022153.2(VSIR):c.561T>G (p.Asp187Glu) rs3747869 0.90370
NM_022336.4(EDAR):c.750C>T (p.Ser250=) rs260632 0.90287
NM_004715.5(CTDP1):c.2817T>C (p.Asp939=) rs626169 0.90284
NM_015474.4(SAMHD1):c.208+158A>G rs6030389 0.90232
NM_000337.6(SGCD):c.*6717G>A rs1827368 0.90216
NM_012188.5(FOXI1):c.1044T>C (p.Tyr348=) rs10063424 0.90200
NM_018161.5(NADSYN1):c.799-5T>C rs2276353 0.89993
NM_018161.5(NADSYN1):c.705T>C (p.Cys235=) rs2276354 0.89934
NM_022095.4(ZNF335):c.881G>C (p.Ser294Thr) rs6032606 0.89832
NM_016938.5(EFEMP2):c.775A>G (p.Ile259Val) rs601314 0.89787
NM_004004.6(GJB2):c.*1152G>A rs7623 0.89599
NM_020247.5(COQ8A):c.730+260T>C rs1888826 0.89455
NM_001367624.2(ZNF469):c.5661C>G (p.Thr1887=) rs9931465 0.89293
NM_006946.4(SPTBN2):c.657-47G>A rs615536 0.89277
NM_001367624.2(ZNF469):c.3522G>A (p.Pro1174=) rs9938800 0.89252
NM_001304438.2(TMEM132E):c.-32T>C rs4795938 0.89192
NM_024989.4(PGAP1):c.649+17G>A rs12693800 0.89159
NM_016302.4(CRBN):c.175-9T>C rs1669321 0.89132
NM_012188.5(FOXI1):c.*440G>A rs6555887 0.89035
NM_000067.3(CA2):c.663+82A>C rs6605618 0.88940
NM_001184.4(ATR):c.7875G>A (p.Gln2625=) rs1802904 0.88595
NM_004937.3(CTNS):c.329+22C>G rs459613 0.88549
NM_032193.4(RNASEH2C):c.*1527A>C rs521678 0.88416
NM_001127649.3(PEX26):c.*2051A>G rs361946 0.88398
NM_001127649.3(PEX26):c.*987T>C rs361807 0.88380
NM_130837.3(OPA1):c.1035+4T>C rs166850 0.88294
NM_001077365.2(POMT1):c.986+49G>A rs10901066 0.88278
NM_001077365.2(POMT1):c.876T>C (p.Thr292=) rs10901065 0.88277
NM_001077365.2(POMT1):c.1047T>C (p.Asp349=) rs3739494 0.88273
NM_001077365.2(POMT1):c.428-21T>C rs11243404 0.88267
NM_001077365.2(POMT1):c.700-48A>G rs2018621 0.88264
NM_001077365.2(POMT1):c.*226T>C rs3824395 0.88255
NM_001077365.2(POMT1):c.699+53A>G rs2296949 0.88248
NM_017875.4(SLC25A38):c.456+36G>A rs1995236 0.88218
NM_001077365.2(POMT1):c.*41T>C rs3739495 0.88174
NM_138694.4(PKHD1):c.*2564A>G rs1414504 0.88144
NM_001077365.2(POMT1):c.*278T>C rs10793885 0.88104
NM_032856.5(WDR73):c.591A>G (p.Ser197=) rs2271432 0.87940
NM_001378454.1(ALMS1):c.2015T>G (p.Val672Gly) rs2037814 0.87820
NM_001267550.2(TTN):c.10256G>A (p.Ser3419Asn) rs2291310 0.87769
NM_000083.3(CLCN1):c.1167-141G>T rs2367941 0.87709
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425 0.87640
NM_001081.4(CUBN):c.123-16C>G rs2281648 0.87635
NM_001366722.1(GRIP1):c.2461C>G (p.Gln821Glu) rs13277 0.87545
NM_015340.4(LARS2):c.2358A>G (p.Val786=) rs267220 0.87505
NM_001267550.2(TTN):c.11252G>A (p.Gly3751Asp) rs7585334 0.87436
NM_001199563.2(BVES):c.227-23G>A rs4946656 0.87399
NM_001267550.2(TTN):c.9781G>A (p.Val3261Met) rs2291311 0.87338
NM_014026.6(DCPS):c.315G>A (p.Gln105=) rs637462 0.87290
NM_000211.5(ITGB2):c.148-1089A>G rs760462 0.87259
NM_001814.6(CTSC):c.458T>C (p.Ile153Thr) rs217086 0.87257
NM_001367624.2(ZNF469):c.4343C>T (p.Pro1448Leu) rs4782300 0.87223
NM_001077365.2(POMT1):c.*348C>T rs7857419 0.87122
NM_001130987.2(DYSF):c.4626+43A>G rs84182 0.87024
NM_001145809.2(MYH14):c.3033+11T>C rs930086 0.86981
NM_000260.4(MYO7A):c.6438+50A>T rs2276289 0.86951
NM_022336.4(EDAR):c.*42G>T rs7607563 0.86887
NM_001145026.2(PTPRQ):c.1187-38T>A rs7311413 0.86872
NM_001395413.1(POR):c.1446T>C (p.Ala482=) rs2228104 0.86727
NM_001367624.2(ZNF469):c.1776A>G (p.Pro592=) rs12927001 0.86712
NM_000091.5(COL4A3):c.2881+46A>G rs6436672 0.86693
NM_000466.3(PEX1):c.358-15G>A rs38809 0.86650
NM_016529.6(ATP8A2):c.2384+55C>T rs2296003 0.86506
NM_203285.2(NECTIN1):c.1082T>G (p.Val361Gly) rs7940667 0.86377
NM_001139.3(ALOX12B):c.1532+30T>C rs2289586 0.86344
NM_001145809.2(MYH14):c.*216T>G rs627491 0.86114
NM_015340.4(LARS2):c.2169T>C (p.Ala723=) rs2170549 0.85995
NM_153747.2(PIGC):c.267T>C (p.Gly89=) rs2230471 0.85989
NM_001098484.3(SLC4A4):c.2937+22C>T rs1453474 0.85968
NM_001081.4(CUBN):c.2791+9C>T rs10795440 0.85809
NM_144498.4(OSBPL2):c.37+23G>A rs6089706 0.85800
NM_000124.4(ERCC6):c.1992+32A>G rs4253162 0.85763
NM_001367624.2(ZNF469):c.4419T>G (p.Ser1473=) rs12445417 0.85761
NM_001139.3(ALOX12B):c.1655-30T>C rs12937410 0.85718
NM_182961.4(SYNE1):c.17203-48G>A rs4112833 0.85656
NM_001098484.3(SLC4A4):c.2991C>T (p.His997=) rs1453458 0.85630
NM_174916.3(UBR1):c.4700+12A>G rs2054389 0.85593
NM_004568.6(SERPINB6):c.431-25T>C rs3818276 0.85550
NM_174916.3(UBR1):c.862-18C>T rs4924704 0.85492
NM_001145026.2(PTPRQ):c.2272+15_2272+16insG rs56929349 0.85402
NM_198525.3(KIF7):c.2658A>C (p.Ala886=) rs3803531 0.85312
NM_001206999.2(CIT):c.3324A>G (p.Arg1108=) rs278109 0.85234
NM_001378615.1(CC2D2A):c.247+26A>G rs10000250 0.85216
NM_004426.3(PHC1):c.918A>G (p.Arg306=) rs1805777 0.85023
NM_000277.3(PAH):c.1155C>G (p.Leu385=) rs772897 0.84953
NM_018249.6(CDK5RAP2):c.196-66A>G rs954214 0.84919
NM_006279.5(ST3GAL3):c.1038+15A>G rs3120803 0.84897
NM_018161.5(NADSYN1):c.744T>C (p.Ile248=) rs2186778 0.84884
NM_015102.5(NPHP4):c.2818-2= rs1217117155 0.84829
NM_004937.3(CTNS):c.779C>T (p.Thr260Ile) rs161400 0.84806
NM_018389.5(SLC35C1):c.*1158C>T rs4756027 0.84749
NM_001395413.1(POR):c.1058-13C>G rs4732516 0.84641
NM_001395413.1(POR):c.1390-34T>C rs2302431 0.84626
NM_001395413.1(POR):c.1390-33G>T rs2302432 0.84588
NM_001099287.2(NIPAL4):c.*1356T>C rs6556051 0.84570
NM_003322.6(TULP1):c.783G>C (p.Lys261Asn) rs2064318 0.84569
NM_001122769.3(LCA5):c.71T>C (p.Leu24Ser) rs2655655 0.84544
NM_004568.6(SERPINB6):c.730-32G>A rs318426 0.84542
NM_001367624.2(ZNF469):c.1098A>C (p.Arg366Ser) rs11640794 0.84448
NM_000124.4(ERCC6):c.1821+7C>T rs4253132 0.84443
NM_004766.3(COPB2):c.141+20G>T rs7373302 0.84378
NM_000286.3(PEX12):c.-428T>C rs321600 0.84193
NM_018249.6(CDK5RAP2):c.865G>C (p.Glu289Gln) rs4836822 0.84114
NM_001077365.2(POMT1):c.1698+48C>G rs2277152 0.84050
NM_001077365.2(POMT1):c.2003+13C>T rs4740165 0.84044
NM_001145026.2(PTPRQ):c.1934T>A (p.Val645Asp) rs10778752 0.84044
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265 0.84043
NM_030928.4(CDT1):c.915T>C (p.His305=) rs510862 0.83978
NM_174916.3(UBR1):c.2379+29G>T rs3736054 0.83957
NM_003672.4(CDC14A):c.839-124T>C rs560431 0.83947
NM_144508.5(KNL1):c.2728A>G (p.Arg910Gly) rs8040502 0.83792
NM_144508.5(KNL1):c.259A>G (p.Thr87Ala) rs12911738 0.83758
NM_000231.3(SGCG):c.860A>G (p.Asn287Ser) rs1800354 0.83747
NM_013382.7(POMT2):c.*1742G>A rs12894594 0.83615
NM_015102.5(NPHP4):c.2612-33G>A rs3747989 0.83595
NM_080704.4(TRPV1):c.-34+7395T>C rs161380 0.83591
NM_021116.4(ADCY1):c.1149-29T>C rs2471231 0.83461
NM_001081.4(CUBN):c.6463-22A>C rs1276713 0.83410
NM_005982.4(SIX1):c.*334C>G rs10144415 0.83338
NM_013382.7(POMT2):c.*1501G>A rs4141640 0.83310
NM_000023.4(SGCA):c.312+83C>T rs2696297 0.83281
NM_001145809.2(MYH14):c.5788-41A>G rs889002 0.83244
NM_018249.6(CDK5RAP2):c.1093-27A>G rs2095064 0.83235
NM_213599.3(ANO5):c.267T>C (p.Asp89=) rs4312063 0.83210
NM_213599.3(ANO5):c.-136G>C rs12792259 0.83191
NM_000208.4(INSR):c.*104A>G rs1051690 0.83181
NM_031942.5(CDCA7):c.622-128C>T rs4972555 0.83121
NM_006721.4(ADK):c.*648C>T rs1189553 0.82915
NM_013382.7(POMT2):c.1383G>A (p.Arg461=) rs2270419 0.82874
NM_000518.5(HBB):c.9T>C (p.His3=) rs713040 0.82706
NM_004937.3(CTNS):c.*2383dup rs397702352 0.82623
NM_182961.4(SYNE1):c.15043T>A (p.Leu5015Met) rs2306916 0.82174
NM_013382.7(POMT2):c.1911T>G (p.Leu637=) rs3209079 0.82113
NM_001283009.2(RTEL1):c.538+160A>T rs6010998 0.81932
NM_001283009.2(RTEL1):c.395+164T>C rs2297433 0.81920
NM_000163.5(GHR):c.-164A>G rs2940928 0.81907
NM_003383.5(VLDLR):c.-69A>G rs12379259 0.81906
NM_002292.4(LAMB2):c.1890+25G>A rs9865051 0.81883
NM_001195263.2(PDZD7):c.2319T>C (p.Arg773=) rs807022 0.81877
NM_001134831.2(AHI1):c.1780-14C>T rs2757645 0.81825
NM_001130987.2(DYSF):c.1277-48A>G rs4852800 0.81805
NM_152305.3(POGLUT1):c.457-25G>A rs4688007 0.81781
NM_015311.3(OBSL1):c.2168G>A (p.Arg723Lys) rs1039898 0.81697
NM_012188.5(FOXI1):c.*535A>G rs6555888 0.81574
NM_001283009.2(RTEL1):c.2544T>C (p.Pro848=) rs3208007 0.81548
NM_001283009.2(RTEL1):c.3126A>C (p.Gln1042His) rs3208008 0.81536
NM_001283009.2(RTEL1):c.1992T>C (p.Asp664=) rs6062302 0.81476
NM_001283009.2(RTEL1):c.1349-135G>C rs6062490 0.81468
NM_001283009.2(RTEL1):c.1596-28T>C rs2738785 0.81463
NM_001195263.2(PDZD7):c.2564A>C (p.Asn855Thr) rs807023 0.81454
NM_002230.4(JUP):c.909+17T>C rs12942034 0.81403
NM_024580.6(EFL1):c.2358T>C (p.Gly786=) rs905450 0.81375
NM_003839.4(TNFRSF11A):c.*2590A>C rs884205 0.81374
NM_004526.4(MCM2):c.2013+10A>G rs782427 0.81303
NM_005702.4(ERAL1):c.945C>T (p.Asp315=) rs2242345 0.81174
NM_003630.3(PEX3):c.*319A>T rs223234 0.81061
NM_024580.6(EFL1):c.2990-36T>C rs2457497 0.81008
NM_015272.5(RPGRIP1L):c.1104-82C>T rs4133017 0.80982
NM_015311.3(OBSL1):c.921T>C (p.Leu307=) rs10180675 0.80936
NM_001367624.2(ZNF469):c.*1001A>G rs3848234 0.80892
NM_001283009.2(RTEL1):c.1038-104G>A rs2297438 0.80871
NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr) rs6911096 0.80856
NM_016219.5(MAN1B1):c.2046T>C (p.Asp682=) rs4880091 0.80826
NM_018451.5(CENPJ):c.3216+7A>G rs9318917 0.80822
NM_022089.4(ATP13A2):c.1195+66A>G rs9435736 0.80687
NM_018429.3(BDP1):c.6037A>C (p.Ile2013Leu) rs6453014 0.80668
NM_018429.3(BDP1):c.4039G>A (p.Val1347Met) rs6886336 0.80644
NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg) rs9479297 0.80638
NM_003701.4(TNFSF11):c.387+14G>A rs2277439 0.80621
NM_182961.4(SYNE1):c.12352-39A>G rs9479298 0.80324
NM_018136.5(ASPM):c.7566A>G (p.Leu2522=) rs1412640 0.80210
NM_012205.3(HAAO):c.81-10C>T rs3816184 0.80170
NM_006005.3(WFS1):c.997G>A (p.Val333Ile) rs1801212 0.80149
NM_004813.4(PEX16):c.542-16C>T rs3802758 0.80104
NM_001367624.2(ZNF469):c.3568A>G (p.Lys1190Glu) rs7197071 0.80067
NM_032806.6(POMGNT2):c.1365G>A (p.Pro455=) rs604033 0.80050
NM_022124.6(CDH23):c.4051A>G (p.Asn1351Asp) rs1227065 0.79969
NM_014865.4(NCAPD2):c.247C>G (p.Gln83Glu) rs714774 0.79942
NM_014875.3(KIF14):c.3096A>G (p.Glu1032=) rs6665951 0.79936
NM_004100.5(EYA4):c.*1434A>G rs9483586 0.79868
NM_174878.3(CLRN1):c.254-1924T>A rs6764540 0.79708
NM_001130987.2(DYSF):c.5004-37C>T rs2303599 0.79706
NM_021252.5(RAB18):c.*3803_*3804insT rs3832657 0.79694
NM_020921.4(NIN):c.3374A>C (p.Gln1125Pro) rs12882191 0.79682
NM_006892.4(DNMT3B):c.2302-212T>C rs4911263 0.79668
NM_020964.3(EPG5):c.6621+29A>G rs3826633 0.79509
NM_004525.3(LRP2):c.12280A>G (p.Lys4094Glu) rs2075252 0.79497
NM_001283009.2(RTEL1):c.2274G>A (p.Ala758=) rs2236506 0.79477
NM_006907.4(PYCR1):c.138+37C>T rs34419046 0.79384
NM_012205.3(HAAO):c.109A>G (p.Ile37Val) rs3816183 0.79336
NM_144508.5(KNL1):c.1378G>T (p.Ala460Ser) rs2412541 0.79293
NM_144508.5(KNL1):c.128G>C (p.Arg43Thr) rs7177192 0.79283
NM_014865.4(NCAPD2):c.2566+30A>T rs7311174 0.79246
NM_014865.4(NCAPD2):c.3300T>C (p.Arg1100=) rs2072374 0.79236
NM_002160.4(TNC):c.2951-43T>C rs2210108 0.79228
NM_176824.3(BBS7):c.1891-12C>A rs2706793 0.79185
NM_016239.4(MYO15A):c.5929T>C (p.Cys1977Arg) rs854777 0.79149
NM_001166114.2(PNPLA6):c.2465+41C>G rs534464 0.79112
NM_005012.4(ROR1):c.180C>T (p.Leu60=) rs1772626 0.79112
NM_006846.4(SPINK5):c.2313+48G>A rs9325074 0.79044
NM_004813.4(PEX16):c.873T>C (p.Tyr291=) rs1132349 0.79011
NM_025074.7(FRAS1):c.1947T>C (p.His649=) rs345514 0.79008
NM_018389.5(SLC35C1):c.*1312T>C rs7943306 0.79007
NM_182961.4(SYNE1):c.1463+24G>T rs4523096 0.78969
NM_001199563.2(BVES):c.351+30T>G rs9404604 0.78922
NM_005529.7(HSPG2):c.13050A>G (p.Ser4350=) rs897467 0.78919
NM_018451.5(CENPJ):c.3478-49C>T rs1530876 0.78901
NM_016239.4(MYO15A):c.10431T>C (p.Tyr3477=) rs854800 0.78890
NM_016239.4(MYO15A):c.*920G>A rs854802 0.78850
NM_006846.4(SPINK5):c.2667-13A>T rs2052537 0.78792
NM_015340.4(LARS2):c.1053T>C (p.Leu351=) rs7610357 0.78771
NM_015340.4(LARS2):c.1455G>A (p.Ala485=) rs2128361 0.78756
NM_015702.3(MMADHC):c.453G>A (p.Gln151=) rs11545261 0.78682
NM_080680.3(COL11A2):c.2700T>C (p.Asp900=) rs2229785 0.78559
NM_015378.4(VPS13D):c.8658A>C (p.Pro2886=) rs28551666 0.78408
NM_020921.4(NIN):c.3959G>A (p.Gly1320Glu) rs2073347 0.78250
NM_001145809.2(MYH14):c.5678+12C>T rs3826772 0.78229
NM_002470.4(MYH3):c.4957-16G>C rs2239936 0.78067
NM_022124.6(CDH23):c.4206+131T>C rs1227061 0.77987
NM_022124.6(CDH23):c.4206+61T>A rs1227062 0.77967
NM_014865.4(NCAPD2):c.3801A>G (p.Val1267=) rs1043262 0.77887
NM_001378789.1(CERS3):c.159A>G (p.Arg53=) rs1354332 0.77863
NM_001367624.2(ZNF469):c.11757A>G (p.Pro3919=) rs4782301 0.77860
NM_080680.3(COL11A2):c.3150+15A>C rs2855436 0.77853
NM_012473.4(TXN2):c.387+30A>C rs2281082 0.77835
NM_080680.3(COL11A2):c.2484+22C>G rs2744512 0.77793
NM_000231.3(SGCG):c.703-53C>T rs9510700 0.77702
NM_004415.4(DSP):c.1141-44C>T rs2076296 0.77690
NM_002230.4(JUP):c.213T>C (p.Asp71=) rs7405731 0.77675
NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=) rs11553521 0.77624
NM_198681.4(PLEKHG5):c.-267G>A rs1556035 0.77574
NM_005529.7(HSPG2):c.7738-14T>C rs3767138 0.77496
NM_024685.4(BBS10):c.*1051C>T rs3087711 0.77456
NM_018429.3(BDP1):c.3792C>G (p.Ile1264Met) rs715747 0.77391
NM_000091.5(COL4A3):c.485A>G (p.Glu162Gly) rs6436669 0.77323
NM_000091.5(COL4A3):c.422T>C (p.Leu141Pro) rs10178458 0.77314
NM_004415.4(DSP):c.3084+28G>A rs2842691 0.77273
NM_002230.4(JUP):c.2046+22A>G rs7216034 0.77249
NM_018136.5(ASPM):c.*81C>T rs12677 0.77214
NM_022124.6(CDH23):c.*349A>G rs1867978 0.77194
NM_000070.3(CAPN3):c.1992+110T>C rs3115883 0.77192
NM_018136.5(ASPM):c.10331+8A>G rs10754213 0.77181
NM_018136.5(ASPM):c.1922-41G>A rs1332663 0.77179
NM_018136.5(ASPM):c.3579T>A (p.Ser1193=) rs4915337 0.77164
NM_001384140.1(PCDH15):c.2869-109T>C rs2456699 0.77156
NM_002473.6(MYH9):c.1728+10G>A rs2413396 0.77118
NM_001130987.2(DYSF):c.5785-41C>T rs2559081 0.77107
NM_000091.5(COL4A3):c.765+49T>G rs12621551 0.77016
NM_025114.4(CEP290):c.2818-50G>C rs2471532 0.76931
NM_004415.4(DSP):c.2091A>G (p.Gly697=) rs2076304 0.76849
NM_001292063.2(OTOG):c.4087G>C (p.Ala1363Pro) rs7934079 0.76845
NM_004836.7(EIF2AK3):c.2110G>T (p.Ala704Ser) rs1805165 0.76783
NM_014813.3(LRIG2):c.2531-22G>A rs1216791 0.76776
NM_005529.7(HSPG2):c.11562+19C>T rs3736355 0.76763
NM_032119.4(ADGRV1):c.10411G>A (p.Glu3471Lys) rs2366928 0.76700
NM_018429.3(BDP1):c.114T>G (p.Asp38Glu) rs3748043 0.76698
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193 0.76694
NM_174878.3(CLRN1):c.*315C>T rs1456138 0.76689
NM_000601.6(HGF):c.1272-4A>G rs1800793 0.76662
NM_174878.3(CLRN1):c.*372C>T rs4680058 0.76596
NM_006005.3(WFS1):c.*91C>T rs1046319 0.76546
NM_002180.3(IGHMBP2):c.602T>C (p.Leu201Ser) rs560096 0.76511
NM_001166114.2(PNPLA6):c.2634+39T>C rs599330 0.76480
NM_002860.4(ALDH18A1):c.88+126A>C rs9787589 0.76474
NM_024678.6(NARS2):c.260A>C (p.Asn87Thr) rs10501429 0.76474
NM_000070.3(CAPN3):c.1537-48T>C rs2241827 0.76381
NM_138775.3(ALKBH8):c.720T>C (p.Asp240=) rs645056 0.76333
NM_006329.4(FBLN5):c.945T>C (p.Ile315=) rs2430347 0.76291
NM_032119.4(ADGRV1):c.2367+8C>T rs2366773 0.76285
NM_015404.4(WHRN):c.1353T>C (p.Gly451=) rs4979387 0.76260
NM_016239.4(MYO15A):c.5826-12A>C rs854778 0.76256
NM_016239.4(MYO15A):c.7787+27G>T rs854773 0.76122
NM_002180.3(IGHMBP2):c.57T>C (p.Leu19=) rs1249463 0.76080
NM_005422.4(TECTA):c.1485A>G (p.Ala495=) rs536069 0.76077
NM_001081.4(CUBN):c.7912+25T>C rs780807 0.76044
NM_002180.3(IGHMBP2):c.*255T>C rs564244 0.75917
NM_001614.5(ACTG1):c.918C>T (p.Tyr306=) rs1139405 0.75861
NM_016122.3(CEP83):c.837T>C (p.Arg279=) rs4761611 0.75856
NM_153717.3(EVC):c.*2417T>C rs6848370 0.75819
NM_001042517.2(DIAPH3):c.627-20G>A rs2762134 0.75789
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) rs9411449 0.75774
NM_000123.3(ERCC5):c.-419A>G rs751402 0.75753
NM_001177701.3(IFT27):c.174+21G>A rs1048012 0.75738
NM_014630.3(ZNF592):c.2238A>G (p.Gln746=) rs2241645 0.75696
NM_145861.4(EDARADD):c.27G>A (p.Met9Ile) rs966365 0.75593
NM_001384140.1(PCDH15):c.3374-72A>G rs2593124 0.75471
NM_001081.4(CUBN):c.10180+30A>G rs703062 0.75316
NM_016373.4(WWOX):c.516+6T>C rs2303191 0.75307
NM_001083961.2(WDR62):c.4170A>C (p.Leu1390Phe) rs1008328 0.75234
NM_001384474.1(LOXHD1):c.3463A>G (p.Arg1155Gly) rs1893566 0.75216
NM_001378615.1(CC2D2A):c.1764+45T>G rs1558572 0.75139
NM_000091.5(COL4A3):c.441+146G>T rs10168566 0.75094
NM_001129.5(AEBP1):c.996A>G (p.Thr332=) rs2595701 0.75024
NM_001171.6(ABCC6):c.1338+7C>G rs9940089 0.75013
NM_016004.5(IFT52):c.159G>A (p.Val53=) rs2664519 0.74971
NM_206933.4(USH2A):c.12612A>G (p.Thr4204=) rs2797235 0.74921
NM_004415.4(DSP):c.3084+24T>G rs2806229 0.74918
NM_020632.3(ATP6V0A4):c.1573-86T>C rs1037692 0.74906
NM_000163.5(GHR):c.*542_*543insA rs11369980 0.74904
NM_018136.5(ASPM):c.441+14C>T rs1571964 0.74895
NM_018136.5(ASPM):c.849C>T (p.Ser283=) rs6677082 0.74886
NM_001384140.1(PCDH15):c.705+93C>T rs857395 0.74876
NM_018136.5(ASPM):c.9636+52T>C rs4915316 0.74861
NM_006721.4(ADK):c.66-23911C>T rs10824095 0.74804
NM_000281.4(PCBD1):c.*36G>A rs9712 0.74730
NM_001286445.3(RIPOR2):c.2811T>C (p.Ser937=) rs9358804 0.74640
NM_004415.4(DSP):c.2631G>A (p.Arg877=) rs1016835 0.74603
NM_001145809.2(MYH14):c.2694+30T>C rs1529492 0.74599
NM_001145809.2(MYH14):c.2250A>G (p.Pro750=) rs1651553 0.74436
NM_000211.5(ITGB2):c.1323T>C (p.Val441=) rs235326 0.74399
NM_006846.4(SPINK5):c.82-31A>G rs1423001 0.74351
NM_022124.6(CDH23):c.366T>C (p.Val122=) rs3802720 0.74285
NM_032119.4(ADGRV1):c.3279G>T (p.Leu1093Phe) rs2366777 0.74245
NM_001543.5(NDST1):c.1662G>C (p.Thr554=) rs1290147 0.74209
NM_002617.4(PEX10):c.291A>G (p.Thr97=) rs2494598 0.74152
NM_032119.4(ADGRV1):c.7751A>G (p.Asn2584Ser) rs1878878 0.74142
NM_022124.6(CDH23):c.146-125T>C rs2297953 0.74120
NM_022336.4(EDAR):c.*1129A>G rs13001699 0.74105
NM_001384140.1(PCDH15):c.3374-68T>G rs10740559 0.74015
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799 0.73957
NM_022124.6(CDH23):c.429+26A>G rs3802718 0.73928
NM_005422.4(TECTA):c.2805T>C (p.Tyr935=) rs586473 0.73877
NM_207361.6(FREM2):c.*5491G>A rs2226913 0.73809
NM_001199799.2(ILDR1):c.1545T>G (p.Leu515=) rs2877561 0.73781
NM_032119.4(ADGRV1):c.5851G>A (p.Val1951Ile) rs4916684 0.73682
NM_004004.6(GJB2):c.*84T>C rs3751385 0.73662
NM_207361.6(FREM2):c.*4465C>T rs2027770 0.73599
NM_080680.3(COL11A2):c.3313-11C>T rs2855437 0.73560
NM_022124.6(CDH23):c.429+13G>A rs3802719 0.73455
NM_207361.6(FREM2):c.6977C>T (p.Thr2326Ile) rs9548509 0.73365
NM_001163809.2(WDR81):c.4971A>G (p.Leu1657=) rs3809872 0.73341
NM_001134831.2(AHI1):c.10+115C>A rs9402709 0.73311
NM_138694.4(PKHD1):c.8798-19A>C rs1326605 0.73187
NM_004560.4(ROR2):c.*16G>A rs2230578 0.73170
NM_206933.4(USH2A):c.373G>A (p.Ala125Thr) rs10779261 0.73169
NM_001173990.3(TMEM216):c.*558G>A rs7607 0.73129
NM_001081.4(CUBN):c.4563T>A (p.Ile1521=) rs1801229 0.73095
NM_001287.6(CLCN7):c.485-39A>C rs2072950 0.73095
NM_001081.4(CUBN):c.4675C>T (p.Pro1559Ser) rs1801231 0.73090
NM_022124.6(CDH23):c.4723G>A (p.Ala1575Thr) rs1227051 0.73017
NM_022124.6(CDH23):c.4618-77C>T rs1227052 0.72986
NM_004999.4(MYO6):c.*4114T>A rs7766661 0.72931
NM_032119.4(ADGRV1):c.9907-35A>C rs7723259 0.72915
NM_033064.5(ATCAY):c.*2586A>G rs8104659 0.72881
NM_000091.5(COL4A3):c.1195C>T (p.Leu399=) rs10205042 0.72668
NM_015650.4(TRAF3IP1):c.69C>A (p.Thr23=) rs13398676 0.72529
NM_022336.4(EDAR):c.1056C>T (p.Cys352=) rs12623957 0.72397
NM_006946.4(SPTBN2):c.2816+23A>G rs532439 0.72382
NM_000091.5(COL4A3):c.324+73C>T rs6750210 0.72318
NM_213599.3(ANO5):c.*3178C>G rs6483841 0.72187
NM_001510.4(GRID2):c.1251T>G (p.Gly417=) rs1385405 0.72183
NM_153717.3(EVC):c.2305-8T>C rs1031919 0.72106
NM_001081.4(CUBN):c.758T>C (p.Phe253Ser) rs1801222 0.72079
NM_153717.3(EVC):c.772T>C (p.Tyr258His) rs6414624 0.72068
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_016356.5(DCDC2):c.*3C>G rs9358755 0.72045
NM_000163.5(GHR):c.*1554G>A rs7442754 0.71972
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110 0.71935
NM_153717.3(EVC):c.2894+18A>G rs2279250 0.71871
NM_001378609.3(OTOGL):c.2519-31A>G rs4483657 0.71868
NM_001098484.3(SLC4A4):c.*2767A>G rs1043218 0.71793
NM_006005.3(WFS1):c.*47T>C rs1046317 0.71708
NM_001042472.3(ABHD12):c.191+31_191+36del rs139848340 0.71682
NM_004937.3(CTNS):c.*2306T>C rs161397 0.71652
NM_004560.4(ROR2):c.2455G>A (p.Val819Ile) rs10761129 0.71630
NM_001384140.1(PCDH15):c.706-8C>T rs10740579 0.71606
NM_006297.3(XRCC1):c.1196A>G (p.Gln399Arg) rs25487 0.71503
NM_001171.6(ABCC6):c.1431+73C>G rs6498618 0.71456
NM_173551.5(ANKS6):c.1617+86C>T rs4742741 0.71449
NM_173543.3(DZIP1L):c.1633A>G (p.Thr545Ala) rs446644 0.71390
NM_173543.3(DZIP1L):c.1778G>A (p.Arg593His) rs374045 0.71372
NM_002160.4(TNC):c.6022G>C (p.Glu2008Gln) rs13321 0.71355
NM_018249.6(CDK5RAP2):c.5579-34G>C rs2297457 0.71354
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile) rs5215 0.71351
NM_004836.7(EIF2AK3):c.497A>G (p.Gln166Arg) rs13045 0.71334
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596 0.71202
NM_022336.4(EDAR):c.1024+44C>T rs260639 0.71201
NM_000092.5(COL4A4):c.595-111T>C rs6436654 0.71196
NM_024678.6(NARS2):c.414T>C (p.Tyr138=) rs10751296 0.71183
NM_012463.4(ATP6V0A2):c.1515T>C (p.Asn505=) rs7135542 0.71178
NM_002230.4(JUP):c.1774-34C>A rs8067890 0.71145
NM_014264.5(PLK4):c.694T>A (p.Ser232Thr) rs3811740 0.71105
NM_006892.4(DNMT3B):c.*827A>G rs2424932 0.71093
NM_001384140.1(PCDH15):c.986-81C>T rs10763086 0.71010
NM_018249.6(CDK5RAP2):c.4618G>C (p.Val1540Leu) rs4837768 0.70962
NM_000254.3(MTR):c.3711+15G>T rs3820571 0.70934
NM_022336.4(EDAR):c.*1598T>C rs10865025 0.70934
NM_002230.4(JUP):c.*225T>C rs4627408 0.70932
NM_017433.5(MYO3A):c.2716-29G>A rs3818956 0.70675
NM_001077365.2(POMT1):c.*453T>C rs11005 0.70594
NM_006005.3(WFS1):c.2565A>G (p.Ser855=) rs1046316 0.70506
NM_138694.4(PKHD1):c.*3026A>G rs2784199 0.70489
NM_012463.4(ATP6V0A2):c.*1693C>G rs10846553 0.70431
NM_005529.7(HSPG2):c.4508C>T (p.Ala1503Val) rs897471 0.70428
NM_001081.4(CUBN):c.9843A>G (p.Thr3281=) rs703064 0.70381
NM_001127671.2(LIFR):c.*362G>A rs1005017 0.70336
NM_001143985.1(BANF1):c.-192G>C rs1786171 0.70323
NM_021116.4(ADCY1):c.1149-31C>G rs2461131 0.70197
NM_138694.4(PKHD1):c.5909-46A>G rs1266889 0.70194
NM_001384140.1(PCDH15):c.3010-48G>A rs2593107 0.70086
NM_001267550.2(TTN):c.3601A>G (p.Lys1201Glu) rs10497520 0.69988
NM_002470.4(MYH3):c.3574G>A (p.Ala1192Thr) rs2285477 0.69723
NM_020632.3(ATP6V0A4):c.1662C>T (p.Phe554=) rs1026435 0.69705
NM_024596.5(MCPH1):c.228G>T (p.Val76=) rs2305022 0.69651
NM_006721.4(ADK):c.878-71T>C rs10740443 0.69570
NM_015311.3(OBSL1):c.4095G>C (p.Glu1365Asp) rs1983210 0.69535
NM_020894.4(UVSSA):c.1859C>T (p.Pro620Leu) rs28522910 0.69466
NM_017433.5(MYO3A):c.1105G>A (p.Val369Ile) rs3817420 0.69434
NM_001378789.1(CERS3):c.999+60G>A rs12595207 0.69413
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355 0.69367
NM_032492.4(JAGN1):c.96T>C (p.Thr32=) rs279553 0.69356
NM_020632.3(ATP6V0A4):c.5T>C (p.Val2Ala) rs10258719 0.69303
NM_015294.6(TRIM37):c.2386+40A>G rs4932691 0.69195
NM_001378615.1(CC2D2A):c.3183-8T>C rs13121363 0.69106
NM_017697.4(ESRP1):c.756-23T>C rs1426171 0.69081
NM_001378615.1(CC2D2A):c.3595-55C>G rs4280723 0.69017
NM_000360.4(TH):c.91-54A>G rs7925375 0.68900
NM_001166114.2(PNPLA6):c.1362+8T>C rs620744 0.68799
NM_017433.5(MYO3A):c.1042A>G (p.Ile348Val) rs3824699 0.68769
NM_001283009.2(RTEL1):c.958+18C>T rs41309367 0.68710
NM_004560.4(ROR2):c.494+25G>A rs12683181 0.68697
NM_004415.4(DSP):c.8472G>C (p.Gly2824=) rs2744380 0.68624
NM_001083961.2(WDR62):c.2549T>C (p.Leu850Ser) rs2285745 0.68524
NM_017755.6(NSUN2):c.1602-11G>T rs2303707 0.68523
NM_001080516.2(GRXCR2):c.543A>C (p.Leu181Phe) rs2569006 0.68522
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68476
NM_001378615.1(CC2D2A):c.3288+41A>C rs13116304 0.68417
NM_022168.4(IFIH1):c.2528A>G (p.His843Arg) rs3747517 0.68382
NM_016529.6(ATP8A2):c.1683C>T (p.Phe561=) rs6491066 0.68336
NM_020632.3(ATP6V0A4):c.722+79T>C rs296910 0.68266
NM_006005.3(WFS1):c.684C>G (p.Arg228=) rs1801213 0.68223
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) rs543573 0.68049
NM_005219.5(DIAPH1):c.1461+20G>A rs2302103 0.67950
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=) rs11080572 0.67857
NM_001083961.2(WDR62):c.3929A>T (p.Gln1310Leu) rs2074435 0.67813
NM_206933.4(USH2A):c.6317T>C (p.Ile2106Thr) rs6657250 0.67783
NM_000334.4(SCN4A):c.*710T>C rs2532111 0.67728
NM_001366722.1(GRIP1):c.724+10G>A rs12316942 0.67684
NM_004526.4(MCM2):c.504C>T (p.Ile168=) rs893293 0.67673
NM_006796.3(AFG3L2):c.752+6C>T rs8097342 0.67671
NM_014918.5(CHSY1):c.2322C>A (p.Thr774=) rs8024370 0.67566
NM_213599.3(ANO5):c.138+169G>A rs4922980 0.67443
NM_000208.4(INSR):c.*2779G>A rs3745551 0.67433
NM_025074.7(FRAS1):c.6468C>T (p.His2156=) rs753752 0.67410
NM_017872.5(THG1L):c.695T>C (p.Leu232Pro) rs2270812 0.67301
NM_170682.4(P2RX2):c.468T>C (p.Thr156=) rs7964634 0.67274
NM_004937.3(CTNS):c.*1440A>G rs161398 0.67203
NM_153717.3(EVC):c.939+10A>G rs2286342 0.67122
NM_001543.5(NDST1):c.1097-28T>C rs2545341 0.67102
NM_024596.5(MCPH1):c.940G>C (p.Asp314His) rs930557 0.67053
NM_174889.4(NDUFAF2):c.-97A>G rs158922 0.66969
NM_170682.4(P2RX2):c.636-13G>A rs6560891 0.66828
NM_004426.3(PHC1):c.93T>A (p.Leu31=) rs4883198 0.66806
NM_000553.6(WRN):c.513C>T (p.Cys171=) rs1800389 0.66802
NM_080680.3(COL11A2):c.4339-49G>T rs2855453 0.66736
NM_001184.4(ATR):c.5898+25T>G rs7620648 0.66679
NM_001124758.3(SPNS2):c.1444-26T>C rs1076072 0.66646
NM_002230.4(JUP):c.2089A>T (p.Met697Leu) rs1126821 0.66611
NM_006618.5(KDM5B):c.2184C>T (p.Tyr728=) rs1141108 0.66577
NM_001374623.1(PNPLA1):c.1564T>C (p.Ser522Pro) rs4713956 0.66570
NM_006618.5(KDM5B):c.747G>A (p.Thr249=) rs3196669 0.66570
NM_012463.4(ATP6V0A2):c.294+103T>C rs7301641 0.66467
NM_024649.5(BBS1):c.*7A>G rs8432 0.66464
NM_004560.4(ROR2):c.733A>G (p.Thr245Ala) rs10820900 0.66416
NM_000400.4(ERCC2):c.1758+32C>G rs238417 0.66337
NM_001304438.2(TMEM132E):c.67+48T>C rs7218304 0.66325
NM_012463.4(ATP6V0A2):c.426T>C (p.Asn142=) rs1139789 0.66312
NM_004700.4(KCNQ4):c.708+14G>C rs2361660 0.66283
NM_001384474.1(LOXHD1):c.4530+107A>G rs1450425 0.66249
NM_002860.4(ALDH18A1):c.304-34A>G rs2275273 0.66239
NM_015702.3(MMADHC):c.479-22G>C rs12232959 0.66236
NM_201384.3(PLEC):c.2457+6C>T rs11780911 0.66214
NM_003754.3(EIF3F):c.561C>T (p.His187=) rs4758267 0.66119
NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=) rs1399961 0.66054
NM_012463.4(ATP6V0A2):c.649-114T>G rs10744159 0.66049
NM_002618.4(PEX13):c.*2147A>G rs2564097 0.66023
NM_002230.4(JUP):c.-88A>G rs4796702 0.65910
NM_012463.4(ATP6V0A2):c.432+14C>T rs11837144 0.65907
NM_015294.6(TRIM37):c.-340T>G rs7503190 0.65862
NM_001080414.4(CCDC88C):c.4630+78G>T rs2277509 0.65846
NM_018249.6(CDK5RAP2):c.5578+29C>G rs4410972 0.65760
NM_020751.3(COG6):c.297+47C>T rs7330016 0.65748
NM_004700.4(KCNQ4):c.777T>C (p.Ala259=) rs4660468 0.65693
NM_016529.6(ATP8A2):c.1185+71A>G rs7332442 0.65665
NM_213599.3(ANO5):c.*1286G>T rs7925081 0.65457
NM_020632.3(ATP6V0A4):c.1812T>C (p.His604=) rs3807154 0.65254
NM_153704.6(TMEM67):c.1066-3C>T rs3097427 0.65135
NM_173543.3(DZIP1L):c.1933A>G (p.Lys645Glu) rs442800 0.65135
NM_032808.7(LINGO1):c.714G>C (p.Leu238=) rs2271396 0.65067
NM_138694.4(PKHD1):c.10156+22412C>T rs9349593 0.65024
NM_001164688.2(RD3):c.-201_-200insC rs11463656 0.65004
NM_178335.3(CCDC50):c.50-4C>G rs188384 0.65003
NM_000277.3(PAH):c.696G>A (p.Gln232=) rs1126758 0.64991
NM_001044385.3(TMEM237):c.274+23A>G rs1208081 0.64988
NM_032808.7(LINGO1):c.474A>G (p.Leu158=) rs2271397 0.64965
NM_001145809.2(MYH14):c.5469+16C>T rs3745510 0.64922
NM_001042472.3(ABHD12):c.951-79A>G rs2260197 0.64898
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val) rs3134031 0.64845
NM_000400.4(ERCC2):c.468A>C (p.Arg156=) rs238406 0.64842
NM_001023570.4(IQCB1):c.574C>T (p.Leu192=) rs4543051 0.64838
NM_032808.7(LINGO1):c.465C>T (p.Ile155=) rs2271398 0.64821
NM_182961.4(SYNE1):c.10191C>A (p.Gly3397=) rs4407724 0.64816
NM_015102.5(NPHP4):c.3231+41T>C rs868163 0.64813
NM_000320.3(QDPR):c.*510C>T rs1031327 0.64808
NM_000320.3(QDPR):c.*468A>C rs699460 0.64794
NM_002857.4(PEX19):c.594+37T>C rs2795067 0.64655
NM_000320.3(QDPR):c.*220T>C rs1049581 0.64638
NM_000320.3(QDPR):c.*221G>A rs1049582 0.64635
NM_000092.5(COL4A4):c.2545+51A>G rs7567789 0.64631
NM_001278064.2(GRM1):c.3168T>G (p.Gly1056=) rs6923864 0.64620
NM_000092.5(COL4A4):c.1029+72G>A rs16823202 0.64560
NM_080680.3(COL11A2):c.3853-39G>A rs2855448 0.64558
NM_182961.4(SYNE1):c.19471-18C>T rs6557210 0.64435
NM_025074.7(FRAS1):c.*2489T>C rs11098227 0.64399
NM_000400.4(ERCC2):c.247-35G>A rs1799783 0.64393
NM_002796.3(PSMB4):c.75G>A (p.Pro25=) rs7172 0.64309
NM_001195263.2(PDZD7):c.367+7A>G rs6584410 0.64290
NM_194248.3(OTOF):c.711-49A>C rs6547079 0.64250
NM_000163.5(GHR):c.558A>G (p.Gly186=) rs6179 0.64137
NM_000067.3(CA2):c.562T>C (p.Leu188=) rs703 0.64073
NM_001145809.2(MYH14):c.5430G>A (p.Ser1810=) rs3745509 0.63924
NM_025074.7(FRAS1):c.*2154C>T rs3811747 0.63908
NM_006005.3(WFS1):c.1500C>T (p.Asn500=) rs1801214 0.63787
NM_000260.4(MYO7A):c.5743-12T>C rs2276291 0.63742
NM_015910.7(WDPCP):c.1915+13G>A rs992214 0.63738
NM_001184.4(ATR):c.1776T>A (p.Gly592=) rs2227930 0.63717
NM_004715.5(CTDP1):c.181T>G (p.Ser61Ala) rs17855830 0.63679
NM_004568.6(SERPINB6):c.573+26A>G rs2244693 0.63676
NM_001184.4(ATR):c.632T>C (p.Met211Thr) rs2227928 0.63625
NM_178335.3(CCDC50):c.976+56A>G rs293806 0.63457
NM_147127.5(EVC2):c.*384T>A rs2287576 0.63456
NM_022772.4(EPS8L2):c.100+72T>C rs11605783 0.63378
NM_002470.4(MYH3):c.1581+13A>C rs2285468 0.63294
NM_000260.4(MYO7A):c.5944+57G>A rs948961 0.63248
NM_000260.4(MYO7A):c.3750+89C>T rs2276286 0.63230
NM_002470.4(MYH3):c.534-44T>C rs1989810 0.63169
NM_006005.3(WFS1):c.461-9A>G rs10010131 0.63169
NM_000083.3(CLCN1):c.1065-108G>A rs2242493 0.63143
NM_018389.5(SLC35C1):c.*49G>A rs1139266 0.63052
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=) rs158921 0.63042
NM_000426.4(LAMA2):c.7830G>C (p.Val2610=) rs2229849 0.63028
NM_033629.6(TREX1):c.531T>C (p.Tyr177=) rs11797 0.62991
NM_018131.5(CEP55):c.1133A>T (p.His378Leu) rs2293277 0.62798
NM_000260.4(MYO7A):c.2905-54A>G rs7117606 0.62793
NM_144672.4(OTOA):c.1630-5C>T rs215901 0.62768
NM_022124.6(CDH23):c.2316T>C (p.Asn772=) rs3752752 0.62582
NM_022124.6(CDH23):c.2388T>C (p.Asp796=) rs3752751 0.62557
NM_022124.6(CDH23):c.2397+26T>C rs3752750 0.62554
NM_000124.4(ERCC6):c.135C>G (p.Leu45=) rs2228524 0.62551
NM_001195248.2(APTX):c.484-13G>T rs10123944 0.62521
NM_000260.4(MYO7A):c.3751-94C>G rs7947922 0.62425
NM_206933.4(USH2A):c.4457G>A (p.Arg1486Lys) rs1805049 0.62414
NM_000414.4(HSD17B4):c.1767+57C>T rs2636961 0.62409
NM_015114.3(ANKLE2):c.1421-138G>C rs7132253 0.62342
NM_015114.3(ANKLE2):c.1700+48A>G rs10747081 0.62271
NM_182961.4(SYNE1):c.25038T>C (p.Arg8346=) rs2256135 0.62211
NM_000360.4(TH):c.577-22C>T rs4074905 0.62210
NM_006005.3(WFS1):c.461-15C>T rs9998519 0.62200
NM_006297.3(XRCC1):c.1896A>G (p.Gln632=) rs3547 0.62026
NM_022124.6(CDH23):c.1134+164C>G rs7903772 0.61986
NM_024753.5(TTC21B):c.601G>A (p.Val201Met) rs1432273 0.61903
NM_002473.6(MYH9):c.3837+25C>T rs4821478 0.61886
NM_015114.3(ANKLE2):c.1594-93A>G rs10781637 0.61828
NM_001111.5(ADAR):c.1151A>G (p.Lys384Arg) rs2229857 0.61729
NM_000092.5(COL4A4):c.658-39T>C rs12475686 0.61721
NM_017872.5(THG1L):c.628-6T>C rs2270813 0.61536
NM_025074.7(FRAS1):c.*2700G>A rs11098228 0.61498
NM_016938.5(EFEMP2):c.-58G>A rs2303384 0.61477
NM_153717.3(EVC):c.*14G>A rs2291151 0.61437
NM_144992.5(VWA3B):c.2029C>G (p.Leu677Val) rs7601049 0.61386
NM_206933.4(USH2A):c.504A>G (p.Thr168=) rs4253963 0.61366
NM_004525.3(LRP2):c.2025C>T (p.Val675=) rs830994 0.61350
NM_000243.3(MEFV):c.942C>T (p.Arg314=) rs224213 0.61317
NM_000092.5(COL4A4):c.2545+46A>T rs7567796 0.61276
NM_004426.3(PHC1):c.369C>T (p.Pro123=) rs1805741 0.61206
NM_000320.3(QDPR):c.*690A>G rs1031326 0.61178
NM_004407.4(DMP1):c.*607A>G rs2627725 0.61047
NM_016529.6(ATP8A2):c.2008-4G>C rs7335339 0.61047
NM_003673.4(TCAP):c.453A>C (p.Ala151=) rs1053651 0.61044
NM_006618.5(KDM5B):c.1887C>T (p.His629=) rs1892164 0.60950
NM_153717.3(EVC):c.802-15C>T rs4689313 0.60798
NM_015278.5(SASH1):c.2651A>G (p.Gln884Arg) rs208696 0.60781
NM_138694.4(PKHD1):c.8108-217C>T rs9474105 0.60763
NM_057174.2(PEX16):c.*434G>A rs2280329 0.60761
NM_004056.6(CA8):c.-54A>C rs10101374 0.60710
NM_004525.3(LRP2):c.12628A>C (p.Ile4210Leu) rs4667591 0.60691
NM_004056.6(CA8):c.100+85T>C rs7002871 0.60674
NM_004056.6(CA8):c.-103T>C rs10086341 0.60622
NM_014956.5(CEP164):c.3090-16A>C rs693147 0.60559
NM_001130987.2(DYSF):c.1449+13C>T rs4852801 0.60553
NM_014053.4(FLVCR1):c.*1151A>G rs6682947 0.60512
NM_014053.4(FLVCR1):c.*339T>G rs12074192 0.60505
NM_001287.6(CLCN7):c.285+52C>A rs2744994 0.60500
NM_001367624.2(ZNF469):c.2130T>C (p.Pro710=) rs12918876 0.60216
NM_000260.4(MYO7A):c.2367+67T>C rs10793239 0.60184
NM_017433.5(MYO3A):c.3937C>A (p.Arg1313Ser) rs1999240 0.60118
NM_000231.3(SGCG):c.705T>C (p.Leu235=) rs1800353 0.60006
NM_198525.3(KIF7):c.1788+13T>C rs1110060 0.59982
NM_004525.3(LRP2):c.13113C>T (p.Ile4371=) rs990626 0.59977
NM_001287.6(CLCN7):c.126T>C (p.Pro42=) rs3751884 0.59955
NM_001206999.2(CIT):c.753+47A>G rs4767849 0.59872
NM_000260.4(MYO7A):c.4996A>T (p.Ser1666Cys) rs2276288 0.59864
NM_014053.4(FLVCR1):c.*1609A>G rs12405742 0.59824
NM_017807.4(OSGEP):c.236-32T>C rs2275006 0.59820
NM_004565.3(PEX14):c.84+8231A>G rs10864459 0.59806
NM_006892.4(DNMT3B):c.1572T>C (p.Cys524=) rs6058891 0.59749
NM_006892.4(DNMT3B):c.1674T>C (p.Tyr558=) rs2424922 0.59732
NM_000334.4(SCN4A):c.4126A>G (p.Asn1376Asp) rs2058194 0.59717
NM_203486.3(DLL3):c.653T>C (p.Leu218Pro) rs1110627 0.59676
NM_000243.3(MEFV):c.1356+44A>G rs224212 0.59650
NM_000760.4(CSF3R):c.1260T>C (p.Thr420=) rs3917981 0.59625
NM_001384140.1(PCDH15):c.2751+37C>T rs3812658 0.59606
NM_001127453.2(GSDME):c.212-30G>A rs2521768 0.59590
NM_206933.4(USH2A):c.10388-27T>C rs7518466 0.59567
NM_000243.3(MEFV):c.1530T>C (p.Asp510=) rs224206 0.59561
NM_001386140.1(MTTP):c.*1046C>G rs1061271 0.59509
NM_006279.5(ST3GAL3):c.1039-18C>T rs2108202 0.59490
NM_018161.5(NADSYN1):c.220G>C (p.Val74Leu) rs2276360 0.59457
NM_017807.4(OSGEP):c.412-17T>A rs938881 0.59439
NM_016938.5(EFEMP2):c.490+23G>C rs630394 0.59356
NM_000123.4(ERCC5):c.138T>C (p.His46=) rs1047768 0.59353
NM_000370.3(TTPA):c.663+11T>C rs4501570 0.59337
NM_000207.3(INS):c.-17-6T>A rs689 0.59334
NM_000207.3(INS):c.*22A>C rs3842753 0.59307
NM_182961.4(SYNE1):c.11734-5T>G rs9478320 0.59305
NM_000370.3(TTPA):c.*1093G>A rs4587328 0.59276
NM_005883.3(APC2):c.413+95T>C rs12985827 0.59265
NM_000243.3(MEFV):c.*474C>G rs11466051 0.59239
NM_000260.4(MYO7A):c.4324-207C>G rs12802853 0.59234
NM_000260.4(MYO7A):c.4324-202A>G rs12421897 0.59230
NM_000243.3(MEFV):c.*1056G>T rs450021 0.59227
NM_000243.3(MEFV):c.*475A>G rs11466052 0.59188
NM_152305.3(POGLUT1):c.456+39G>T rs3732419 0.59158
NM_000260.4(MYO7A):c.4323+35G>T rs1109977 0.59156
NM_001134831.2(AHI1):c.3426+13G>A rs6914831 0.59084
NM_000260.4(MYO7A):c.5637-175A>G rs4945160 0.59068
NM_000260.4(MYO7A):c.5480+162C>G rs11237120 0.59043
NM_000123.4(ERCC5):c.*84G>A rs873601 0.59033
NM_015602.4(TOR1AIP1):c.554-4G>A rs2245425 0.58997
NM_001039141.3(TRIOBP):c.3899A>G (p.His1300Arg) rs739138 0.58971
NM_018075.5(ANO10):c.1385G>A (p.Arg462Gln) rs3772165 0.58882
NM_001128431.4(SLC39A14):c.195A>G (p.Leu65=) rs2293144 0.58869
NM_000243.3(MEFV):c.*267G>A rs2741918 0.58813
NM_002470.4(MYH3):c.5457+9dup rs397750512 0.58793
NM_006846.4(SPINK5):c.1659C>T (p.Val553=) rs2303071 0.58781
NM_021942.6(TRAPPC11):c.2851+29C>G rs12651215 0.58778
NM_000243.3(MEFV):c.1764= (p.Pro588=) rs1231122 0.58770
NM_002470.4(MYH3):c.2151C>A (p.Gly717=) rs876657 0.58590
NC_000011.10:g.2172367C>T rs10770140 0.58545
NM_152617.4(RNF168):c.559-46A>G rs7646174 0.58484
NM_206933.4(USH2A):c.10232A>C (p.Glu3411Ala) rs10864198 0.58403
NM_018161.5(NADSYN1):c.264-26A>G rs2276362 0.58357
NM_000260.4(MYO7A):c.5481-83A>G rs11237121 0.58275
NM_001048166.1(STIL):c.257C>T (p.Ala86Val) rs3125630 0.58260
NM_178335.3(CCDC50):c.1092+58C>T rs293814 0.58227
NM_000243.3(MEFV):c.*245G>A rs2741919 0.58215
NM_178335.3(CCDC50):c.1242+10G>A rs211043 0.58210
NM_178335.3(CCDC50):c.1269C>A (p.Ser423=) rs364519 0.58203
NM_178335.3(CCDC50):c.995T>C (p.Met332Thr) rs293813 0.58148
NM_006892.4(DNMT3B):c.1906-5T>C rs2424928 0.58051
NM_000243.3(MEFV):c.1428A>G (p.Gln476=) rs224207 0.58038
NM_001166114.2(PNPLA6):c.3398-36G>A rs535208 0.58035
NM_006005.3(WFS1):c.2433G>A (p.Lys811=) rs1046314 0.57941
NM_001081.4(CUBN):c.1165C>A (p.Pro389Thr) rs1801224 0.57919
NM_080680.3(COL11A2):c.2628+3G>A rs970901 0.57903
NM_000260.4(MYO7A):c.3109-68G>A rs2276287 0.57823
NM_138694.4(PKHD1):c.8303-65C>A rs7765455 0.57777
NM_182961.4(SYNE1):c.10866T>C (p.Ser3622=) rs9397102 0.57769
NM_000243.3(MEFV):c.1422G>A (p.Glu474=) rs224208 0.57768
NM_000092.5(COL4A4):c.4548A>G (p.Val1516=) rs2228555 0.57766
NM_001692.4(ATP6V1B1):c.-89A>G rs11685700 0.57743
NM_153676.4(USH1C):c.-183T>G rs1859819 0.57652
NM_000287.4(PEX6):c.2667-48G>A rs2274517 0.57547
NM_006005.3(WFS1):c.*683C>T rs3200 0.57543
NM_001206999.2(CIT):c.2880T>C (p.Ala960=) rs904655 0.57517
NM_002470.4(MYH3):c.4731C>T (p.Ile1577=) rs2285479 0.57510
NM_182961.4(SYNE1):c.11580+15C>T rs6908392 0.57402
NM_006208.3(ENPP1):c.*1972G>C rs1931006 0.57374
NM_017697.4(ESRP1):c.490+16T>C rs60139063 0.57366
NM_002470.4(MYH3):c.2532A>G (p.Ala844=) rs2285469 0.57316
NM_002470.4(MYH3):c.2166-15A>G rs876660 0.57314
NM_015602.4(TOR1AIP1):c.437T>C (p.Met146Thr) rs1281378 0.57305
NM_002470.4(MYH3):c.1141+32G>A rs2239934 0.57301
NM_002470.4(MYH3):c.2916A>G (p.Thr972=) rs2285472 0.57294
NM_002470.4(MYH3):c.2926-12A>G rs2285473 0.57289
NM_002470.4(MYH3):c.2952T>C (p.Ser984=) rs2285474 0.57288
NM_002470.4(MYH3):c.4956+32C>T rs4792008 0.57288
NM_002470.4(MYH3):c.1003-22C>T rs2239933 0.57286
NM_153676.4(USH1C):c.1086-45A>G rs2041031 0.57266
NM_001160372.4(TRAPPC9):c.2557-13T>A rs9792174 0.57247
NM_020779.4(WDR35):c.25-46G>A rs3731663 0.57247
NM_153676.4(USH1C):c.1086-42G>A rs2108332 0.57242
NM_002470.4(MYH3):c.349-43C>T rs2285466 0.57166
NM_024417.5(FDXR):c.271-15C>T rs2070918 0.57101
NM_198525.3(KIF7):c.3112-11_3112-10insCT rs35820949 0.57089
NM_001378615.1(CC2D2A):c.*21G>C rs1134634 0.57021
NM_002160.4(TNC):c.2131+38T>C rs1755639 0.56997
NM_001080414.4(CCDC88C):c.3966+12G>A rs3742656 0.56935
NM_194248.3(OTOF):c.2736G>C (p.Leu912=) rs4335905 0.56927
NM_001145809.2(MYH14):c.657G>A (p.Ala219=) rs4801822 0.56915
NM_001256317.3(TMPRSS3):c.447-13A>G rs8130564 0.56900
NM_001278064.2(GRM1):c.2977T>C (p.Ser993Pro) rs6923492 0.56892
NM_002693.3(POLG):c.2071-22T>C rs2072267 0.56891
NM_000287.4(PEX6):c.1961+20G>A rs2274514 0.56870
NM_000287.4(PEX6):c.1885-24G>A rs3818554 0.56866
NM_173551.5(ANKS6):c.360-67A>G rs7027771 0.56802
NM_000260.4(MYO7A):c.5856+50G>A rs2276290 0.56770
NM_015910.7(WDPCP):c.1624+24T>A rs2138796 0.56759
NM_018161.5(NADSYN1):c.408-21C>T rs2282621 0.56759
NM_000287.4(PEX6):c.2814G>A (p.Glu938=) rs1129186 0.56758
NM_000492.4(CFTR):c.1408G>A (p.Val470Met) rs213950 0.56732
NM_000382.3(ALDH3A2):c.1446A>T (p.Ala482=) rs7216 0.56713
NM_000260.4(MYO7A):c.5715A>G (p.Lys1905=) rs2276293 0.56709
NM_000260.4(MYO7A):c.6051+17T>A rs1320702 0.56699
NM_022482.5(GZF1):c.824A>C (p.Gln275Pro) rs6048760 0.56687
NM_000260.4(MYO7A):c.5857-7A>T rs1320703 0.56654
NM_006005.3(WFS1):c.1185C>T (p.Val395=) rs1801206 0.56648
NM_173543.3(DZIP1L):c.961C>T (p.Arg321Trp) rs2724693 0.56621
NM_000260.4(MYO7A):c.5944+67C>T rs948960 0.56521
NM_001128431.4(SLC39A14):c.98T>C (p.Leu33Pro) rs896378 0.56499
NM_139343.3(BIN1):c.84+4287G>T rs755639 0.56496
NC_000011.10:g.2172610A>G rs10770141 0.56453
NM_001127453.2(GSDME):c.447A>G (p.Glu149=) rs876305 0.56409
NM_001127453.2(GSDME):c.576+21C>A rs876307 0.56398
NM_153676.4(USH1C):c.1086-108A>G rs2041032 0.56388
NM_001042517.2(DIAPH3):c.1014+27G>C rs339540 0.56368
NM_018161.5(NADSYN1):c.408-18C>T rs2282620 0.56366
NM_013382.7(POMT2):c.*1137G>A rs7158951 0.56341
NM_144992.5(VWA3B):c.2653G>A (p.Val885Met) rs11889349 0.56331
NM_001080414.4(CCDC88C):c.3009A>G (p.Leu1003=) rs1970912 0.56314
NM_020921.4(NIN):c.5637G>A (p.Gln1879=) rs11376 0.56301
NM_006846.4(SPINK5):c.3009T>C (p.Gly1003=) rs2400478 0.56263
NM_013382.7(POMT2):c.*790G>A rs7159558 0.56247
NM_006846.4(SPINK5):c.2241-26T>C rs3764926 0.56233
NM_018075.5(ANO10):c.1293+9A>G rs7616708 0.56196
NM_022089.4(ATP13A2):c.705+228A>G rs2871776 0.56136
NM_153676.4(USH1C):c.37-45C>G rs2240489 0.56124
NM_153676.4(USH1C):c.760-66T>C rs4757539 0.56102
NM_000557.5(GDF5):c.-48= rs143384 0.56056
NM_153717.3(EVC):c.*931T>C rs6840435 0.56030
NM_006739.4(MCM5):c.423+7C>T rs713618 0.56028
NM_000271.5(NPC1):c.2911+28T>C rs6507720 0.56005
NM_016239.4(MYO15A):c.7857G>A (p.Gly2619=) rs854772 0.55976
NM_001160372.4(TRAPPC9):c.207T>C (p.Gly69=) rs3735801 0.55959
NM_138691.3(TMC1):c.-219A>G rs7026304 0.55869
NM_002913.5(RFC1):c.2541A>G (p.Pro847=) rs2066786 0.55849
NM_001160372.4(TRAPPC9):c.288T>C (p.Phe96=) rs3735802 0.55845
NM_182961.4(SYNE1):c.12180G>T (p.Glu4060Asp) rs4645434 0.55815
NM_020661.4(AICDA):c.156+16G>A rs2518144 0.55804
NM_001379286.1(ZNF423):c.567T>C (p.Arg189=) rs3803665 0.55755
NM_001267727.2(ARSG):c.765T>C (p.Pro255=) rs1558877 0.55737
NM_153717.3(EVC):c.939+63C>A rs13145958 0.55696
NM_022772.4(EPS8L2):c.301C>T (p.Leu101=) rs3087546 0.55660
NM_201384.3(PLEC):c.11886A>G (p.Thr3962=) rs6558406 0.55590
NM_006892.4(DNMT3B):c.1760-5C>G rs1997797 0.55509
NM_015028.4(TNIK):c.63C>T (p.Pro21=) rs3796295 0.55370
NM_000492.4(CFTR):c.1680-870T>A rs213965 0.55332
NM_018669.6(WDR4):c.213G>C (p.Lys71Asn) rs2248490 0.55249
NM_001278064.2(GRM1):c.3495C>A (p.Pro1165=) rs9373491 0.55222
NM_022098.4(XPNPEP3):c.*2629G>A rs2899341 0.55160
NM_001127453.2(GSDME):c.863-37C>T rs2721809 0.55124
NM_022089.4(ATP13A2):c.1815C>T (p.Pro605=) rs2076603 0.55111
NM_206933.4(USH2A):c.3157+35G>A rs1324330 0.54884
NM_014956.5(CEP164):c.766-36T>A rs2305826 0.54836
NM_015602.4(TOR1AIP1):c.827C>G (p.Pro276Arg) rs609521 0.54825
NM_004260.4(RECQL4):c.132A>G (p.Glu44=) rs2306386 0.54741
NM_006005.3(WFS1):c.*149G>A rs1046320 0.54693
NM_174878.3(CLRN1):c.254-1947A>G rs6801898 0.54588
NM_001378454.1(ALMS1):c.12089G>A (p.Arg4030Lys) rs1052161 0.54502
NM_004525.3(LRP2):c.2460A>G (p.Thr820=) rs2241190 0.54408
NM_001042472.2(ABHD12):c.-220G>A rs3827014 0.54397
NM_001039141.3(TRIOBP):c.4063-21A>C rs13054052 0.54357
NM_033028.5(BBS4):c.643-102T>C rs6495015 0.54330
NM_201384.3(PLEC):c.12813A>G (p.Ser4271=) rs6558405 0.54173
NM_006846.4(SPINK5):c.2132G>A (p.Arg711Gln) rs3777134 0.54171
NM_000329.3(RPE65):c.644-33C>G rs1925955 0.54169
NM_006846.4(SPINK5):c.2412C>T (p.Gly804=) rs33920397 0.54161
NM_006846.4(SPINK5):c.2358C>T (p.Leu786=) rs17704908 0.54150
NM_000254.3(MTR):c.3576C>T (p.Leu1192=) rs1131449 0.54121
NM_001039141.3(TRIOBP):c.650G>A (p.Ser217Asn) rs12628603 0.54098
NM_201384.3(PLEC):c.13461T>C (p.Ala4487=) rs7014582 0.54076
NM_001145026.2(PTPRQ):c.3155-34A>T rs11114502 0.54055
NM_018718.3(CEP41):c.*5102G>A rs1990790 0.54035
NM_012463.4(ATP6V0A2):c.*1128T>C rs10744162 0.53964
NM_016042.4(EXOSC3):c.498G>A (p.Gln166=) rs7158 0.53959
NM_201384.3(PLEC):c.11628A>G (p.Pro3876=) rs7822511 0.53938
NM_006005.3(WFS1):c.*604G>C rs9457 0.53926
NM_145861.4(EDARADD):c.62-41A>G rs669710 0.53840
NM_017777.4(MKS1):c.858+9A>G rs3826300 0.53797
NM_017777.4(MKS1):c.750-105T>C rs3744105 0.53777
NM_004525.3(LRP2):c.3069A>G (p.Thr1023=) rs831043 0.53755
NM_018275.5(TRAPPC14):c.1396-43T>C rs2272337 0.53650
NM_001287.6(CLCN7):c.1884-35T>C rs12597739 0.53608
NM_020661.4(AICDA):c.465C>T (p.His155=) rs2028373 0.53597
NM_003619.4(PRSS12):c.164G>C (p.Arg55Thr) rs13119545 0.53595
NM_198525.3(KIF7):c.3048G>A (p.Ser1016=) rs9672286 0.53592
NM_004525.3(LRP2):c.3550+14C>T rs2075254 0.53578
NM_198525.3(KIF7):c.2896-14G>A rs9672296 0.53577
NM_139343.3(BIN1):c.1002+163T>C rs2276582 0.53506
NM_001163809.2(WDR81):c.4743A>G (p.Pro1581=) rs3809871 0.53472
NM_032119.4(ADGRV1):c.10161+26G>T rs4916815 0.53367
NM_201384.3(PLEC):c.7960T>C (p.Ser2654Pro) rs7833924 0.53335
NM_014875.3(KIF14):c.4020G>A (p.Glu1340=) rs7543730 0.53314
NM_003619.4(PRSS12):c.1281A>G (p.Gln427=) rs2292597 0.53313
NM_201384.3(PLEC):c.3965A>G (p.His1322Arg) rs55895668 0.53310
NM_001145809.2(MYH14):c.3018G>A (p.Leu1006=) rs3745504 0.53291
NM_012233.3(RAB3GAP1):c.2265T>C (p.Phe755=) rs17261772 0.53257
NM_004813.4(PEX16):c.*303C>T rs10838529 0.53226
NM_014425.5(INVS):c.2412T>C (p.Ser804=) rs2787374 0.53208
NM_002473.6(MYH9):c.1554+7A>G rs3752462 0.53193
NM_138691.3(TMC1):c.-468G>A rs7022441 0.53167
NM_021828.5(HPSE2):c.1736A>T (p.Tyr579Phe) rs10883100 0.53113
NM_014874.3(MFN2):c.-212T>C rs2180183 0.53102
NM_020247.4(COQ8A):c.*815C>T rs10495274 0.53093
NM_170682.4(P2RX2):c.997-40C>T rs4883632 0.53086
NM_213599.3(ANO5):c.*496A>G rs10766930 0.53080
NM_000557.5(GDF5):c.-275= rs143383 0.53070
NM_021828.5(HPSE2):c.1614-23C>T rs11189618 0.53048
NM_021828.5(HPSE2):c.*17C>T rs10883099 0.52995
NM_001378615.1(CC2D2A):c.1765-24A>G rs1861044 0.52969
NM_000260.4(MYO7A):c.1936-23G>A rs2276283 0.52888
NM_000208.4(INSR):c.1483+31T>C rs2860178 0.52842
NM_005529.7(HSPG2):c.474G>T (p.Gly158=) rs2254358 0.52823
NM_017807.4(OSGEP):c.570A>G (p.Leu190=) rs938883 0.52815
NM_153717.3(EVC):c.1098+51A>T rs4688961 0.52782
NC_000020.11:g.32762102T>C rs6087990 0.52775
NM_020921.4(NIN):c.1128T>C (p.Val376=) rs17793018 0.52775
NM_153717.3(EVC):c.1026G>C (p.Leu342=) rs4688962 0.52761
NM_012463.4(ATP6V0A2):c.*3425G>A rs2333834 0.52752
NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg) rs9381994 0.52715
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr) rs2277598 0.52665
NM_014874.3(MFN2):c.-367A>G rs2236054 0.52635
NM_006892.4(DNMT3B):c.307-49C>T rs2424913 0.52532
NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg) rs12900805 0.52523
NM_032119.4(ADGRV1):c.11682C>T (p.Pro3894=) rs2438349 0.52519
NM_000092.5(COL4A4):c.490-121T>G rs12465531 0.52500
NM_004525.3(LRP2):c.3667+20A>C rs831041 0.52466
NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile) rs3803530 0.52464
NM_138694.4(PKHD1):c.11696A>G (p.Gln3899Arg) rs4715227 0.52431
NM_138775.3(ALKBH8):c.878+31T>A rs589788 0.52394
NM_001161403.3(LIMS2):c.399G>A (p.Lys133=) rs4662751 0.52377
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala) rs214976 0.52364
NM_001145026.2(PTPRQ):c.2505C>G (p.Leu835=) rs12824064 0.52337
NM_000553.6(WRN):c.1350+22T>C rs2737325 0.52238
NM_022336.4(EDAR):c.*2426C>T rs1478517 0.52218
NM_001127649.3(PEX26):c.*1265T>A rs456551 0.52154
NM_002913.5(RFC1):c.2808+36C>G rs2066788 0.52121
NM_016529.6(ATP8A2):c.3183+95C>T rs2249800 0.52080
NM_025132.4(WDR19):c.*229C>T rs7564 0.52060
NM_001127649.3(PEX26):c.*167G>A rs464385 0.52045
NM_016239.4(MYO15A):c.4954C>T (p.Leu1652=) rs2280777 0.52028
NM_004999.4(MYO6):c.*3835C>T rs7742137 0.51984
NM_182961.4(SYNE1):c.3505-39A>C rs502268 0.51916
NM_016373.4(WWOX):c.1056+191744T>G rs2548861 0.51877
NM_025074.7(FRAS1):c.10696G>A (p.Val3566Ile) rs931606 0.51866
NM_138691.3(TMC1):c.45C>T (p.Asp15=) rs2589615 0.51851
NM_194248.3(OTOF):c.509+39A>T rs7575020 0.51850
NM_178161.3(PTF1A):c.787T>C (p.Ser263Pro) rs7918487 0.51842
NM_017807.4(OSGEP):c.558-17C>T rs938882 0.51822
NM_000370.3(TTPA):c.*1487G>A rs6472068 0.51778
NM_004086.3(COCH):c.1055C>G (p.Thr352Ser) rs1045644 0.51720
NM_013382.7(POMT2):c.1184-47A>C rs2287387 0.51704
NM_000092.5(COL4A4):c.3214+159A>G rs2272202 0.51677
NM_004056.6(CA8):c.327A>G (p.Glu109=) rs7464181 0.51676
NM_000092.5(COL4A4):c.3215-66C>T rs2272200 0.51657
NM_001378454.1(ALMS1):c.11873-12T>C rs1320374 0.51648
NM_017433.5(MYO3A):c.2867G>A (p.Ser956Asn) rs3758449 0.51636
NM_153676.4(USH1C):c.1188A>G (p.Pro396=) rs2240487 0.51629
NM_022124.6(CDH23):c.4488+32C>G rs10762474 0.51502
NM_001287.6(CLCN7):c.1170A>T (p.Ala390=) rs2235579 0.51407
NM_004937.3(CTNS):c.461+52G>A rs467277 0.51389
NM_000414.4(HSD17B4):c.434+120A>G rs463513 0.51367
NM_025132.4(WDR19):c.3716+46dup rs11096989 0.51347
NM_000782.5(CYP24A1):c.552C>T (p.Ala184=) rs2296241 0.51337
NM_006846.4(SPINK5):c.882+45_882+46insT rs76839946 0.51324
NM_025132.4(WDR19):c.3841-27T>C rs12648082 0.51304
NM_025074.7(FRAS1):c.9116-11T>C rs7677541 0.51261
NM_022124.6(CDH23):c.1135-128A>G rs10823810 0.51167
NM_000288.4(PEX7):c.*306T>G rs1050803 0.51106
NM_002485.5(NBN):c.1197T>C (p.Asp399=) rs709816 0.51063
NM_000260.4(MYO7A):c.3924+12C>T rs2276285 0.51057
NM_016356.5(DCDC2):c.661A>G (p.Ser221Gly) rs2274305 0.51051
NM_000092.5(COL4A4):c.3011C>T (p.Pro1004Leu) rs1800517 0.51043
NM_003630.3(PEX3):c.942-13A>G rs161058 0.51037
NM_000092.5(COL4A4):c.1444C>T (p.Pro482Ser) rs2229814 0.51006
NM_001042545.2(LTBP4):c.379G>A (p.Val127Ile) rs2303729 0.50929
NM_001081.4(CUBN):c.5856A>G (p.Ser1952=) rs1801234 0.50897
NM_014865.4(NCAPD2):c.1920C>A (p.Ile640=) rs917634 0.50857
NM_000426.4(LAMA2):c.5466A>G (p.Glu1822=) rs3749877 0.50817
NM_000288.4(PEX7):c.130+48_130+53dup rs11283064 0.50803
NM_001145809.2(MYH14):c.3681-26A>T rs788337 0.50766
NM_000426.4(LAMA2):c.5502G>A (p.Glu1834=) rs3749878 0.50693
NM_006846.4(SPINK5):c.800A>G (p.Gln267Arg) rs6892205 0.50665
NM_015340.4(LARS2):c.1760+12T>C rs2306522 0.50630
NM_001384140.1(PCDH15):c.92-52T>G rs10825347 0.50625
NM_001206999.2(CIT):c.2871A>G (p.Thr957=) rs904654 0.50582
NM_015028.4(TNIK):c.744C>T (p.Asn248=) rs12637875 0.50558
NM_000318.3(PEX2):c.*2663T>A rs28435921 0.50526
NM_005529.7(HSPG2):c.3897G>A (p.Val1299=) rs2229482 0.50526
NM_004525.3(LRP2):c.3660A>G (p.Ala1220=) rs831042 0.50520
NM_001101426.4(CRPPA):c.789+89A>G rs62441885 0.50511
NM_025074.7(FRAS1):c.9116-5C>G rs7695038 0.50468
NM_002160.4(TNC):c.2248-32C>T rs2989519 0.50397
NM_201384.3(PLEC):c.11127T>C (p.Ala3709=) rs7819099 0.50384
NM_182961.4(SYNE1):c.1047+4T>A rs9397106 0.50379
NM_001042545.2(LTBP4):c.3687C>T (p.Asp1229=) rs7367 0.50292
NM_025074.7(FRAS1):c.95A>G (p.Asp32Gly) rs4859905 0.50277
NM_022464.5(SIL1):c.153A>G (p.Thr51=) rs3088052 0.50252
NM_001166114.2(PNPLA6):c.2260+24G>A rs473899 0.50240
NM_080680.3(COL11A2):c.3174G>A (p.Pro1058=) rs1799910 0.50179
NM_130837.3(OPA1):c.2274T>C (p.Ala758=) rs9851685 0.50117
NM_000260.4(MYO7A):c.783T>C (p.Gly261=) rs762667 0.50077
NM_000426.4(LAMA2):c.5727-24T>A rs3828735 0.50074
NM_000426.4(LAMA2):c.5727-22C>T rs80125253 0.50051
NM_000426.4(LAMA2):c.5727-21T>G rs76902576 0.50019
NM_206933.4(USH2A):c.6506T>C (p.Ile2169Thr) rs10864219 0.50009
NM_021942.6(TRAPPC11):c.927A>G (p.Ala309=) rs4241779 0.49989
NM_001366722.1(GRIP1):c.1838+13G>T rs7397862 0.49975
NM_001278064.2(GRM1):c.2793G>A (p.Lys931=) rs2942 0.49950
NM_138694.4(PKHD1):c.7587G>A (p.Gly2529=) rs12210295 0.49949
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082 0.49943
NM_022124.6(CDH23):c.1753-78A>T rs3802717 0.49901
NM_182961.4(SYNE1):c.9147-13G>A rs214955 0.49738
NM_152617.4(RNF168):c.1202C>A (p.Pro401Gln) rs3796129 0.49737
NM_016219.5(MAN1B1):c.*384A>G rs4567 0.49708
NM_000019.4(ACAT1):c.435+78A>C rs10890817 0.49701
NM_030928.4(CDT1):c.784A>G (p.Thr262Ala) rs480727 0.49695
NM_000782.5(CYP24A1):c.*1256_*1257insAT rs10623012 0.49683
NM_016373.4(WWOX):c.1057-40T>C rs384216 0.49671
NM_153240.4(NPHP3):c.-69A>G rs13099099 0.49619
NM_000092.5(COL4A4):c.4207T>C (p.Ser1403Pro) rs3752895 0.49558
NM_001378454.1(ALMS1):c.764+20T>A rs1881246 0.49506
NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=) rs7598901 0.49457
NM_001145026.2(PTPRQ):c.2371C>A (p.Gln791Lys) rs11114486 0.49400
NM_003896.3(ST3GAL5):c.-141T>C rs28364794 0.49269
NM_001256317.3(TMPRSS3):c.453G>A (p.Val151=) rs2839501 0.49190
NM_015702.3(MMADHC):c.*126A>G rs6923 0.49161
NM_178335.3(CCDC50):c.651T>C (p.His217=) rs2028572 0.49117
NM_178335.3(CCDC50):c.773T>A (p.Ile258Asn) rs2028574 0.49112
NM_178335.3(CCDC50):c.908A>G (p.Lys303Arg) rs4677728 0.49101
NM_178335.3(CCDC50):c.976+6A>G rs4677729 0.49066
NM_000271.5(NPC1):c.3754+34A>G rs2510344 0.48972
NM_000260.4(MYO7A):c.2905-162T>G rs59698916 0.48946
NM_182961.4(SYNE1):c.12795-12A>G rs9478314 0.48867
NM_001287.6(CLCN7):c.981+133G>A rs7190701 0.48855
NM_033109.5(PNPT1):c.1390C>A (p.Arg464=) rs2627765 0.48848
NM_182961.4(SYNE1):c.8177+20A>T rs214943 0.48837
NM_000092.5(COL4A4):c.4217-24C>T rs10188770 0.48798
NM_017697.4(ESRP1):c.1800T>C (p.Asn600=) rs12677519 0.48717
NM_005422.4(TECTA):c.1111A>G (p.Arg371Gly) rs612969 0.48670
NM_001130987.2(DYSF):c.1034-20G>A rs12713756 0.48623
NM_000243.3(MEFV):c.306T>C (p.Asp102=) rs224225 0.48544
NM_153676.4(USH1C):c.2457G>C (p.Glu819Asp) rs1064074 0.48497
NM_000243.3(MEFV):c.495C>A (p.Ala165=) rs224223 0.48450
NM_001195794.1(CLRN1):c.-71A>G rs3796240 0.48434
NM_015114.3(ANKLE2):c.641-35T>A rs7304425 0.48411
NM_182961.4(SYNE1):c.17346+38C>T rs9371581 0.48251
NM_002160.4(TNC):c.696A>G (p.Val232=) rs2992147 0.48200
NM_144628.4(TBC1D20):c.71-49T>G rs6139203 0.48145
NM_002160.4(TNC):c.2039A>G (p.Gln680Arg) rs1061494 0.48121
NM_144628.4(TBC1D20):c.71-210G>A rs6037661 0.48070
NM_002160.4(TNC):c.276G>A (p.Val92=) rs944510 0.47973
NM_015404.4(WHRN):c.1838T>C (p.Met613Thr) rs942519 0.47944
NM_153676.4(USH1C):c.1413+52C>T rs2190453 0.47939
NM_001166114.2(PNPLA6):c.3280+38C>T rs489056 0.47937
NM_000092.5(COL4A4):c.4523-8T>C rs13419076 0.47936
NM_001292063.2(OTOG):c.2038T>C (p.Ser680Pro) rs7106548 0.47894
NM_000092.5(COL4A4):c.4932C>T (p.Phe1644=) rs2228557 0.47874
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606 0.47852
NM_018451.5(CENPJ):c.3042A>G (p.Glu1014=) rs3742165 0.47759
NM_000260.4(MYO7A):c.4755C>T (p.Ser1585=) rs7927472 0.47702
NM_001142633.3(PIK3R5):c.1075T>C (p.Leu359=) rs381309 0.47682
NM_001142633.3(PIK3R5):c.837C>T (p.His279=) rs394811 0.47651
NM_017433.5(MYO3A):c.1170+7C>T rs3817419 0.47630
NM_017433.5(MYO3A):c.956G>A (p.Arg319His) rs3824700 0.47622
NM_005422.4(TECTA):c.5272+26A>G rs662496 0.47584
NM_017433.5(MYO3A):c.1104C>T (p.Tyr368=) rs35379457 0.47540
NM_000352.6(ABCC8):c.207T>C (p.Pro69=) rs1048099 0.47531
NM_001101426.4(CRPPA):c.534+13T>A rs6461252 0.47530
NM_001386140.1(MTTP):c.453T>C (p.Gly151=) rs991811 0.47516
NM_015311.3(OBSL1):c.3561T>C (p.Pro1187=) rs2278201 0.47513
NM_017433.5(MYO3A):c.1053+11C>T rs3824698 0.47508
NM_001038603.3(MARVELD2):c.98C>T (p.Thr33Ile) rs1185246 0.47503
NM_002160.4(TNC):c.5029A>T (p.Ile1677Leu) rs2104772 0.47499
NM_017433.5(MYO3A):c.1053+12A>G rs3824697 0.47492
NM_017433.5(MYO3A):c.954-32A>G rs3824701 0.47455
NM_001099287.2(NIPAL4):c.451A>G (p.Arg151Gly) rs6860507 0.47353
NM_001099287.2(NIPAL4):c.*910A>T rs3822692 0.47331
NM_000231.3(SGCG):c.312T>G (p.Leu104=) rs1800351 0.47318
NM_182961.4(SYNE1):c.7713-49G>A rs214944 0.47302
NM_001042545.2(LTBP4):c.2158A>G (p.Thr720Ala) rs1131620 0.47295
NM_207361.6(FREM2):c.*1428A>G rs9548522 0.47270
NM_001042545.2(LTBP4):c.2257A>G (p.Thr753Ala) rs1051303 0.47266
NM_014956.5(CEP164):c.3356A>G (p.Gln1119Arg) rs573455 0.47249
NM_003701.4(TNFSF11):c.126T>C (p.Pro42=) rs2296533 0.47237
NM_000391.4(TPP1):c.508+26T>A rs1800738 0.47213
NM_001386140.1(MTTP):c.891C>G (p.His297Gln) rs2306985 0.47212
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser) rs1052030 0.47208
NM_030928.4(CDT1):c.1587C>G (p.Leu529=) rs572275 0.47081
NM_001366722.1(GRIP1):c.*616T>C rs1168308 0.47053
NM_018063.5(HELLS):c.31+20T>C rs10882474 0.47048
NM_006208.3(ENPP1):c.*3724C>T rs2327154 0.46998
NM_207361.6(FREM2):c.*5562C>G rs1945507 0.46889
NM_000271.5(NPC1):c.1757+60G>A rs2435307 0.46769
NM_000092.5(COL4A4):c.3973+34T>C rs1917127 0.46756
NM_000092.5(COL4A4):c.4080G>A (p.Pro1360=) rs2228556 0.46753
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813 0.46716
NM_020964.3(EPG5):c.3173T>C (p.Val1058Ala) rs3744998 0.46686
NM_000092.5(COL4A4):c.3817+9G>C rs13423714 0.46646
NM_000092.5(COL4A4):c.3684G>A (p.Lys1228=) rs2229812 0.46642
NM_000092.5(COL4A4):c.3578-84T>C rs10179756 0.46595
NM_000092.5(COL4A4):c.3594G>A (p.Gly1198=) rs10203363 0.46565
NM_000352.6(ABCC8):c.579+14C>T rs2301703 0.46493
NM_012478.4(WBP2):c.305-5T>C rs2290771 0.46485
NM_000553.6(WRN):c.3222G>T (p.Leu1074Phe) rs1801195 0.46398
NM_015311.3(OBSL1):c.5309-29G>A rs4672934 0.46336
NM_080680.3(COL11A2):c.2136A>T (p.Gly712=) rs1799908 0.46292
NM_000553.6(WRN):c.3138+7G>A rs2737335 0.46283
NM_138694.4(PKHD1):c.3629-32A>G rs2499480 0.46280
NM_015981.4(CAMK2A):c.1238-44G>A rs2241695 0.46240
NM_001145809.2(MYH14):c.2355-14C>T rs12981413 0.46235
NM_207361.6(FREM2):c.*5733C>T rs1945505 0.46197
NM_000243.3(MEFV):c.1610+96C>T rs224204 0.46165
NM_001142633.3(PIK3R5):c.657+41T>C rs381198 0.46158
NM_015261.3(NCAPD3):c.2892A>G (p.Val964=) rs2276265 0.46126
NM_000260.4(MYO7A):c.1080+65T>C rs4944145 0.46104
NM_000243.3(MEFV):c.1588-69G>A rs224205 0.46073
NM_006846.4(SPINK5):c.882+20A>G rs11958432 0.45982
NM_139319.3(SLC17A8):c.*39A>C rs11568537 0.45975
NM_001080476.3(GRXCR1):c.*55G>A rs4861050 0.45974
NM_001160372.4(TRAPPC9):c.411C>T (p.Asn137=) rs3735803 0.45974
NM_201384.3(PLEC):c.1264-15G>A rs7003580 0.45916
NM_002241.5(KCNJ10):c.*2062T>G rs1053074 0.45911
NM_006892.4(DNMT3B):c.143-22del rs3835238 0.45870
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458 0.45824
NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro) rs11120047 0.45814
NM_014053.4(FLVCR1):c.-86C>T rs2201603 0.45780
NM_018063.5(HELLS):c.231A>C (p.Ile77=) rs11188019 0.45728
NM_001283009.2(RTEL1):c.477+35C>T rs2297434 0.45720
NM_138775.3(ALKBH8):c.1288-3C>T rs654093 0.45699
NM_153676.4(USH1C):c.37-61A>G rs878546 0.45653
NM_138694.4(PKHD1):c.8302+12T>A rs1571084 0.45597
NM_138694.4(PKHD1):c.8302+89A>T rs1571083 0.45590
NM_198428.3(BBS9):c.*110C>T rs1050721 0.45573
NM_000553.6(WRN):c.2449-42T>C rs2725352 0.45569
NM_006846.4(SPINK5):c.1004C>T (p.Ala335Val) rs34482796 0.45563
NM_147127.5(EVC2):c.2095A>G (p.Thr699Ala) rs730469 0.45556
NM_152618.3(BBS12):c.*811C>G rs309386 0.45540
NM_138694.4(PKHD1):c.8173+144G>A rs9474104 0.45513
NM_016239.4(MYO15A):c.-219-14T>C rs854817 0.45512
NM_016239.4(MYO15A):c.-76A>C rs854818 0.45498
NM_024596.5(MCPH1):c.2215-19A>G rs2936531 0.45478
NM_182961.4(SYNE1):c.9651+47C>T rs1873176 0.45478
NM_001042472.3(ABHD12):c.1068T>C (p.Asp356=) rs10966 0.45223
NM_020247.5(COQ8A):c.1660-9T>C rs7552783 0.45219
NM_033109.5(PNPT1):c.1074-19A>G rs782637 0.45197
NM_020247.5(COQ8A):c.854-81A>G rs2297412 0.45192
NM_015311.3(OBSL1):c.5309-4C>G rs34490902 0.45189
NM_153676.4(USH1C):c.*211A>G rs1055581 0.45185
NM_020779.4(WDR35):c.2496A>G (p.Glu832=) rs6741091 0.45165
NM_020066.5(FMN2):c.3442A>G (p.Arg1148Gly) rs12732924 0.45161
NM_014053.4(FLVCR1):c.*2813G>A rs1284854 0.45117
NM_004525.3(LRP2):c.10503G>A (p.Gln3501=) rs2229265 0.45093
NM_032119.4(ADGRV1):c.17626G>A (p.Val5876Ile) rs2247870 0.45079
NM_001813.3(CENPE):c.2025G>A (p.Gln675=) rs2251634 0.45048
NM_006846.4(SPINK5):c.1011-12C>T rs1422991 0.45033
NM_001283009.2(RTEL1):c.700-115G>A rs6062300 0.44984
NM_001286445.3(RIPOR2):c.*7G>A rs9358799 0.44982
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394 0.44947
NM_002381.5(MATN3):c.*176C>T rs7569975 0.44939
NM_002857.4(PEX19):c.*2156C>G rs10594 0.44938
NM_018429.3(BDP1):c.3538G>A (p.Gly1180Ser) rs715748 0.44915
NM_033109.5(PNPT1):c.361A>G (p.Ile121Val) rs782572 0.44915
NM_022168.4(IFIH1):c.2836G>A (p.Ala946Thr) rs1990760 0.44895
NM_001171.6(ABCC6):c.1841T>C (p.Val614Ala) rs12931472 0.44841
NM_145861.4(EDARADD):c.161-33G>C rs636048 0.44828
NM_000070.3(CAPN3):c.2381-79T>C rs3115884 0.44779
NM_018429.3(BDP1):c.3730T>A (p.Phe1244Ile) rs1961760 0.44739
NM_000492.4(CFTR):c.2562T>G (p.Thr854=) rs1042077 0.44737
NM_018429.3(BDP1):c.5893-36G>A rs276590 0.44671
NM_001171.6(ABCC6):c.1867+92G>A rs7192265 0.44653
NM_000553.6(WRN):c.2361G>T (p.Leu787=) rs1800392 0.44630
NM_001267550.2(TTN):c.31864G>A (p.Gly10622Arg) rs2244492 0.44551
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899 0.44536
NM_001171.6(ABCC6):c.1780-86G>T rs4369696 0.44514
NM_000092.5(COL4A4):c.694-72G>T rs55741079 0.44490
NM_001367624.2(ZNF469):c.10972G>C (p.Glu3658Gln) rs1105066 0.44478
NM_001042472.3(ABHD12):c.*148C>T rs1046073 0.44458
NM_000083.3(CLCN1):c.2154C>T (p.Asp718=) rs2272251 0.44456
NM_000543.5(SMPD1):c.107T>C (p.Val36Ala) rs1050228 0.44445
NM_001042472.3(ABHD12):c.*297C>G rs11100 0.44435
NM_015046.7(SETX):c.6655-24G>A rs11243704 0.44367
NM_004560.4(ROR2):c.2088C>T (p.Tyr696=) rs10992063 0.44353
NM_000414.4(HSD17B4):c.1261+47A>G rs455949 0.44330
NM_000083.3(CLCN1):c.1402-9C>T rs2272252 0.44267
NM_000352.6(ABCC8):c.1686C>T (p.His562=) rs1799857 0.44260
NM_018429.3(BDP1):c.7074G>T (p.Pro2358=) rs469039 0.44242
NM_018429.3(BDP1):c.2332G>A (p.Val778Met) rs3761967 0.44225
NM_002693.3(POLG):c.3483-19T>G rs2307438 0.44213
NM_006208.3(ENPP1):c.*1043A>G rs7754561 0.44199
NM_144498.4(OSBPL2):c.1125+15A>G rs2297592 0.44193
NM_006846.4(SPINK5):c.1389A>G (p.Gly463=) rs6896303 0.44173
NM_006208.3(ENPP1):c.*1157C>T rs7754859 0.44164
NM_006846.4(SPINK5):c.1302+19G>A rs2303068 0.44163
NM_006846.4(SPINK5):c.1258A>G (p.Lys420Glu) rs2303067 0.44148
NM_001351132.2(PEX5):c.*755C>G rs1057225 0.44145
NM_001129.5(AEBP1):c.3397A>G (p.Lys1133Glu) rs13928 0.44136
NM_006846.4(SPINK5):c.1188T>C (p.His396=) rs2303065 0.44136
NM_006846.4(SPINK5):c.1093-26C>T rs2303061 0.44132
NM_006846.4(SPINK5):c.1103G>A (p.Ser368Asn) rs2303063 0.44127
NM_015474.4(SAMHD1):c.276-105C>A rs6030312 0.44115
NM_018669.6(WDR4):c.796C>T (p.Pro266Ser) rs15736 0.44094
NM_024596.5(MCPH1):c.2282C>T (p.Ala761Val) rs1057090 0.44044
NM_153747.2(PIGC):c.796C>T (p.Pro266Ser) rs1063412 0.44041
NM_153676.4(USH1C):c.*46T>C rs1055574 0.44023
NM_001171.6(ABCC6):c.1867+86T>C rs7192961 0.43963
NM_001384140.1(PCDH15):c.4367+119T>C rs10740555 0.43920
NM_182961.4(SYNE1):c.7029+45T>C rs177330 0.43899
NM_138694.4(PKHD1):c.282-41A>G rs1892274 0.43840
NM_138694.4(PKHD1):c.-84-47T>C rs9370097 0.43816
NM_015311.3(OBSL1):c.5300G>A (p.Arg1767Gln) rs59332477 0.43789
NM_153676.4(USH1C):c.*186C>T rs1055577 0.43773
NM_006846.4(SPINK5):c.*44T>C rs4349706 0.43753
NM_006846.4(SPINK5):c.*208C>G rs3088193 0.43751
NM_001267727.2(ARSG):c.820T>C (p.Trp274Arg) rs1558878 0.43728
NM_006846.4(SPINK5):c.*361_*363dup rs397704765 0.43679
NM_144628.4(TBC1D20):c.337+88G>T rs2273465 0.43662
NM_032808.7(LINGO1):c.1104C>T (p.Ser368=) rs3743481 0.43645
NM_001614.5(ACTG1):c.363+13C>A rs9910792 0.43644
NM_001367624.2(ZNF469):c.8604C>T (p.Arg2868=) rs3812953 0.43642
NM_000232.5(SGCB):c.244-21T>C rs225170 0.43577
NM_021252.5(RAB18):c.*3453G>A rs11015861 0.43562
NM_000492.4(CFTR):c.1766+152T>A rs4148711 0.43526
NM_207361.6(FREM2):c.3209T>C (p.Phe1070Ser) rs2496425 0.43515
NM_001379180.1(ESRRB):c.*2906T>C rs3829784 0.43496
NM_021628.3(ALOXE3):c.1685-117A>G rs2289587 0.43486
NM_000163.5(GHR):c.*300G>A rs2910875 0.43476
NM_020751.3(COG6):c.94T>A (p.Cys32Ser) rs3812883 0.43470
NM_001171.6(ABCC6):c.1896C>A (p.His632Gln) rs8058694 0.43467
NM_017433.5(MYO3A):c.586-22T>C rs3737275 0.43457
NM_000083.3(CLCN1):c.433+72C>G rs7800971 0.43455
NM_000334.4(SCN4A):c.4869A>G (p.Thr1623=) rs2070720 0.43390
NM_025074.7(FRAS1):c.2450C>T (p.Ala817Val) rs6835769 0.43382
NM_153676.4(USH1C):c.1085+21C>G rs2240488 0.43168
NM_016239.4(MYO15A):c.3609+21C>G rs712268 0.43124
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) rs734312 0.43085
NM_001128431.4(SLC39A14):c.457+45G>T rs3817445 0.43048
NM_021628.3(ALOXE3):c.*356A>C rs3809882 0.43006
NM_001042472.3(ABHD12):c.837C>T (p.Arg279=) rs6107027 0.42961
NM_006892.4(DNMT3B):c.1252+13T>G rs910085 0.42898
NM_001378789.1(CERS3):c.845+53C>T rs12909732 0.42838
NM_000231.3(SGCG):c.579-28T>G rs1536727 0.42785
NM_014053.4(FLVCR1):c.*2578G>A rs1284856 0.42748
NM_001171.6(ABCC6):c.1890C>G (p.Thr630=) rs8058696 0.42733
NM_014053.4(FLVCR1):c.*2709T>C rs1284855 0.42731
NM_148919.4(PSMB8):c.407+6C>T rs9276810 0.42678
NM_001374623.1(PNPLA1):c.459C>T (p.Phe153=) rs2239795 0.42670
NM_000163.5(GHR):c.1630A>C (p.Ile544Leu) rs6180 0.42616
NM_001329943.3(KIAA0586):c.4495+3795T>C rs28535751 0.42605
NM_000123.4(ERCC5):c.2879+14C>T rs4150360 0.42594
NM_002860.4(ALDH18A1):c.*155G>A rs1053905 0.42481
NM_002860.4(ALDH18A1):c.1606-48T>G rs2296692 0.42481
NM_021628.3(ALOXE3):c.1685-150G>A rs2289588 0.42468
NM_002860.4(ALDH18A1):c.2207-46G>A rs7099284 0.42467
NM_005876.5(SPEG):c.2226G>A (p.Lys742=) rs10932806 0.42459
NM_022124.6(CDH23):c.832+101G>A rs6480531 0.42446
NM_000360.4(TH):c.1334+127T>C rs2070762 0.42406
NM_000254.3(MTR):c.2474-18T>A rs10925256 0.42308
NM_000092.5(COL4A4):c.4091-36G>A rs3752896 0.42307
NM_022834.5(VWA1):c.1005A>G (p.Pro335=) rs1892289 0.42255
NM_139319.3(SLC17A8):c.1187-45C>T rs11568536 0.42236
NM_000329.3(RPE65):c.*915C>G rs3118416 0.42177
NM_000329.3(RPE65):c.*611G>A rs2182315 0.42147
NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln) rs309370 0.42071
NM_025074.7(FRAS1):c.11037C>G (p.Pro3679=) rs4975070 0.42060
NM_025074.7(FRAS1):c.11056C>T (p.Leu3686=) rs4975139 0.42041
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=) rs3738725 0.42035
NM_001139.3(ALOX12B):c.650+7C>G rs2304908 0.42027
NM_001083961.2(WDR62):c.2147-34G>A rs2301736 0.41985
NM_004260.4(RECQL4):c.801G>C (p.Glu267Asp) rs4244612 0.41942
NM_018429.3(BDP1):c.4060-77G>A rs418738 0.41911
NM_018429.3(BDP1):c.6462C>T (p.Leu2154=) rs182190 0.41887
NM_016366.3(CABP2):c.281G>A (p.Arg94Gln) rs2276118 0.41880
NM_153717.3(EVC):c.*2617G>A rs3733186 0.41865
NM_001048166.1(STIL):c.3486T>C (p.Pro1162=) rs2758735 0.41846
NM_153676.4(USH1C):c.105-16C>T rs2041027 0.41822
NM_018429.3(BDP1):c.4405A>G (p.Lys1469Glu) rs1698063 0.41809
NM_002906.4(RDX):c.1587+38T>G rs10450619 0.41780
NM_001543.5(NDST1):c.681T>G (p.Val227=) rs2273235 0.41747
NM_006642.5(SDCCAG8):c.-47T>A rs3904682 0.41725
NM_153717.3(EVC):c.*2713C>T rs3733188 0.41663
NM_001124758.3(SPNS2):c.1443+28A>G rs12945732 0.41588
NM_022089.4(ATP13A2):c.2970G>A (p.Val990=) rs761421 0.41522
NM_014028.4(OSTM1):c.*331A>G rs9320250 0.41485
NM_022089.4(ATP13A2):c.3236-30C>T rs2076605 0.41484
NM_001080414.4(CCDC88C):c.60+8C>A rs3742654 0.41434
NM_022124.6(CDH23):c.4846-49T>C rs7917781 0.41434
NM_138694.4(PKHD1):c.2278C>T (p.Arg760Cys) rs9370096 0.41404
NM_015278.5(SASH1):c.337-38G>C rs2272998 0.41376
NM_001166114.2(PNPLA6):c.3699+41C>T rs538850 0.41358
NM_016239.4(MYO15A):c.1899A>G (p.Pro633=) rs2955366 0.41355
NM_004525.3(LRP2):c.3054C>A (p.Thr1018=) rs2075249 0.41290
NM_001139.3(ALOX12B):c.-155T>C rs2278635 0.41263
NM_000243.3(MEFV):c.1764G>A (p.Pro588=) rs1231122 0.41230
NM_001287.6(CLCN7):c.2251-50G>A rs12599176 0.41216
NM_004260.4(RECQL4):c.3236+13C>T rs4244610 0.41215
NM_000243.3(MEFV):c.1611-90C>T rs1231124 0.41206
NM_006642.5(SDCCAG8):c.1725G>A (p.Glu575=) rs10927011 0.41204
NM_206933.4(USH2A):c.11390-55C>T rs4053764 0.41199
NM_013382.7(POMT2):c.*1058G>A rs11624564 0.41162
NM_000414.4(HSD17B4):c.1675A>G (p.Ile559Val) rs11205 0.41131
NM_144498.4(OSBPL2):c.1249+4C>T rs3746657 0.41122
NM_138694.4(PKHD1):c.667+57G>A rs17576809 0.41111
NM_013382.7(POMT2):c.*1967C>T rs11547794 0.41103
NM_013382.7(POMT2):c.*1974G>A rs11159254 0.41096
NM_014053.4(FLVCR1):c.*2419G>A rs10864027 0.41090
NM_138694.4(PKHD1):c.3785C>T (p.Ala1262Val) rs9296669 0.41087
NM_002913.5(RFC1):c.331+25G>T rs2306596 0.41060
NM_004415.4(DSP):c.1904-49T>A rs2076303 0.41041
NM_138694.4(PKHD1):c.2407+50C>T rs10948667 0.41035
NM_138694.4(PKHD1):c.602+67A>G rs3936986 0.41008
NM_001111.5(ADAR):c.3443+8G>A rs9427094 0.40966
NM_001692.4(ATP6V1B1):c.2T>C (p.Met1Thr) rs11681642 0.40886
NM_022089.4(ATP13A2):c.3192C>T (p.Ala1064=) rs9435659 0.40884
NM_022089.4(ATP13A2):c.3516G>A (p.Pro1172=) rs3170740 0.40860
NM_198428.3(BBS9):c.*103T>C rs1050719 0.40841
NM_013322.3(SNX10):c.24+36T>A rs3801891 0.40832
NM_176824.3(BBS7):c.1890+16G>A rs1507994 0.40768
NM_005708.5(GPC6):c.-623G>A rs319522 0.40757
NM_022089.4(ATP13A2):c.2637C>T (p.Gly879=) rs9435662 0.40757
NM_153717.3(EVC):c.969T>C (p.Asn323=) rs4688963 0.40746
NM_022124.6(CDH23):c.5996C>G (p.Thr1999Ser) rs11592462 0.40744
NM_178170.3(NEK8):c.*388C>T rs1142899 0.40723
NM_015404.4(WHRN):c.2348T>C (p.Val783Ala) rs2274159 0.40624
NM_006297.3(XRCC1):c.618A>G (p.Pro206=) rs915927 0.40597
NM_000287.3(PEX6):c.-55C>T rs9462859 0.40581
NM_000287.4(PEX6):c.399G>T (p.Val133=) rs9462858 0.40569
NM_001378454.1(ALMS1):c.6336T>A (p.Ser2112Arg) rs6724782 0.40522
NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln) rs1129187 0.40479
NM_000320.3(QDPR):c.-47C>G rs2244788 0.40252
NM_001195263.2(PDZD7):c.1749+43del rs34125357 0.40205
NM_001378454.1(ALMS1):c.5626A>G (p.Ile1876Val) rs6546838 0.40153
NM_024580.6(EFL1):c.731+18T>C rs1972460 0.40011
NM_004618.5(TOP3A):c.391-10C>T rs7207123 0.39970
NM_001378454.1(ALMS1):c.8481G>T (p.Arg2827Ser) rs2056486 0.39967
NM_001378454.1(ALMS1):c.8570A>G (p.Asn2857Ser) rs10193972 0.39950
NM_016239.4(MYO15A):c.1783G>A (p.Ala595Thr) rs2955365 0.39950
NM_017875.4(SLC25A38):c.165G>A (p.Leu55=) rs2270770 0.39870
NM_017433.5(MYO3A):c.3850A>T (p.Thr1284Ser) rs3740231 0.39847
NM_000083.3(CLCN1):c.2180C>T (p.Pro727Leu) rs13438232 0.39778
NM_000553.6(WRN):c.3138+6C>T rs3024239 0.39769
NM_138694.4(PKHD1):c.7215+102T>A rs4711985 0.39765
NM_001378454.1(ALMS1):c.4244G>C (p.Gly1415Ala) rs6546837 0.39736
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=) rs1799859 0.39734
NM_001194998.2(CEP152):c.833-4G>A rs58156069 0.39693
NM_024596.5(MCPH1):c.2226C>T (p.Ser742=) rs2912010 0.39666
NM_000231.3(SGCG):c.579-32T>G rs1536725 0.39650
NM_000337.6(SGCD):c.84T>C (p.Tyr28=) rs1801193 0.39558
NM_001374623.1(PNPLA1):c.1268C>A (p.Pro423His) rs12199580 0.39557
NM_004999.4(MYO6):c.*2027T>C rs6914716 0.39546
NM_022124.6(CDH23):c.5187+99T>C rs10762481 0.39527
NM_007254.4(PNKP):c.498+23A>T rs1290649 0.39505
NM_021628.3(ALOXE3):c.2124C>T (p.Ser708=) rs3809881 0.39411
NM_000243.3(MEFV):c.1760-30T>A rs1231123 0.39404
NM_033064.5(ATCAY):c.*823C>T rs10424392 0.39386
NM_138694.4(PKHD1):c.7734-4T>C rs7452724 0.39369
NM_138694.4(PKHD1):c.7733+63C>T rs9382043 0.39367
NM_004393.6(DAG1):c.*250T>C rs1050088 0.39364
NM_138694.4(PKHD1):c.7733+33C>T rs9382044 0.39361
NM_138694.4(PKHD1):c.7764A>G (p.Leu2588=) rs9349603 0.39323
NM_015272.5(RPGRIP1L):c.2959-32G>A rs7203525 0.39281
NM_016938.5(EFEMP2):c.276C>T (p.His92=) rs633800 0.39212
NM_201384.3(PLEC):c.1815+13A>G rs10866916 0.39200
NM_001374623.1(PNPLA1):c.776-35G>A rs10947600 0.39147
NM_153676.4(USH1C):c.36+214C>T rs7125811 0.39120
NM_001042545.2(LTBP4):c.3221C>T (p.Thr1074Met) rs10880 0.39072
NM_144508.5(KNL1):c.3432T>C (p.Asn1144=) rs11070285 0.39065
NM_207361.6(FREM2):c.7398A>G (p.Thr2466=) rs9532292 0.39041
NM_144508.5(KNL1):c.1715T>C (p.Met572Thr) rs11858113 0.39038
NM_000083.3(CLCN1):c.2284+33C>G rs56680997 0.39032
NM_002860.4(ALDH18A1):c.2206+15G>A rs10882640 0.39029
NM_018718.3(CEP41):c.-5A>C rs2287371 0.39010
NM_144508.5(KNL1):c.2583T>G (p.Thr861=) rs8041534 0.38951
NM_001143985.1(BANF1):c.-221T>G rs14157 0.38941
NM_198999.3(SLC26A5):c.403+14T>C rs7779997 0.38939
NM_144508.5(KNL1):c.2310C>T (p.Val770=) rs11855334 0.38914
NM_001384140.1(PCDH15):c.4203-151C>A rs4935096 0.38898
NM_014053.4(FLVCR1):c.1631C>T (p.Thr544Met) rs3207090 0.38895
NM_014053.4(FLVCR1):c.*1826C>T rs12567976 0.38865
NM_002617.4(PEX10):c.776+33G>T rs3795269 0.38841
NM_001384140.1(PCDH15):c.4203-162T>C rs4935472 0.38838
NM_014053.4(FLVCR1):c.*1793C>T rs12567975 0.38742
NM_144508.5(KNL1):c.6416-84C>T rs10444817 0.38742
NM_144508.5(KNL1):c.6595-27C>T rs2412544 0.38723
NM_004525.3(LRP2):c.4875T>C (p.Cys1625=) rs2229267 0.38704
NM_001292063.2(OTOG):c.1955+24C>T rs10832802 0.38692
NM_020247.5(COQ8A):c.1573-52G>A rs2297415 0.38619
NM_004260.4(RECQL4):c.1258+18G>A rs4251689 0.38613
NM_206933.4(USH2A):c.848+103C>G rs1339963 0.38613
NM_005876.5(SPEG):c.9236A>G (p.His3079Arg) rs12464085 0.38593
NM_020066.5(FMN2):c.1413C>A (p.Ala471=) rs10926124 0.38564
NM_025074.7(FRAS1):c.3151+14_3151+15dup rs398092530 0.38519
NM_001378454.1(ALMS1):c.12175C>T (p.Leu4059=) rs1052162 0.38498
NM_000557.5(GDF5):c.826= (p.Ala276=) rs224331 0.38490
NM_000091.5(COL4A3):c.1721C>T (p.Pro574Leu) rs28381984 0.38447
NM_000414.4(HSD17B4):c.317G>A (p.Arg106His) rs25640 0.38375
NM_025074.7(FRAS1):c.7110C>T (p.His2370=) rs7660664 0.38360
NM_001145809.2(MYH14):c.2205C>G (p.Arg735=) rs378811 0.38312
NM_000506.5(F2):c.1726-59G>A rs3136516 0.38221
NM_018699.4(PRDM5):c.744-38C>T rs2136998 0.38181
NM_001378454.1(ALMS1):c.4179A>G (p.Gln1393=) rs6546836 0.38173
NM_020247.5(COQ8A):c.1573-20C>G rs2297416 0.38143
NM_182961.4(SYNE1):c.1351-24A>T rs4331993 0.38135
NM_153676.4(USH1C):c.2656-47C>T rs2072225 0.38117
NM_139343.3(BIN1):c.1372-90C>T rs6745677 0.38066
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=) rs11675767 0.38033
NM_001378454.1(ALMS1):c.6854G>C (p.Arg2285Pro) rs6546839 0.38002
NM_017739.4(POMGNT1):c.1027-44A>G rs7527668 0.37971
NM_015272.5(RPGRIP1L):c.*737T>G rs3760008 0.37956
NM_015272.5(RPGRIP1L):c.*55T>A rs4784319 0.37955
NM_015272.5(RPGRIP1L):c.*1693G>A rs1946155 0.37946
NM_004100.5(EYA4):c.829G>A (p.Gly277Ser) rs9493627 0.37885
NM_033064.5(ATCAY):c.*3181G>A rs10412199 0.37873
NM_022772.4(EPS8L2):c.774C>T (p.Ile258=) rs7635 0.37863
NM_000277.3(PAH):c.441+47C>T rs1718301 0.37849
NM_001127671.2(LIFR):c.397+29A>C rs2289779 0.37791
NM_005876.5(SPEG):c.8368A>G (p.Arg2790Gly) rs55760516 0.37734
NM_144672.4(OTOA):c.*47A>G rs460598 0.37728
NM_032193.4(RNASEH2C):c.*1917T>C rs535111 0.37725
NM_017791.3(FLVCR2):c.648C>G (p.Ser216=) rs2287017 0.37676
NM_017791.3(FLVCR2):c.47T>C (p.Val16Ala) rs2287015 0.37653
NM_006297.3(XRCC1):c.1481+9G>A rs25479 0.37650
NM_000286.3(PEX12):c.*517A>G rs1046321 0.37640
NM_004260.4(RECQL4):c.3393+8C>T rs756627 0.37589
NM_004260.4(RECQL4):c.1621-15C>T rs4244611 0.37577
NM_022124.6(CDH23):c.-5-83C>A rs4747153 0.37515
NM_001384140.1(PCDH15):c.3984-20C>T rs7089209 0.37411
NM_000083.3(CLCN1):c.261C>T (p.Thr87=) rs6962852 0.37404
NM_001292063.2(OTOG):c.2340G>A (p.Pro780=) rs4757548 0.37391
NM_000123.3(ERCC5):c.-242T>C rs2296147 0.37387
NM_153717.3(EVC):c.1099-19T>C rs899691 0.37351
NM_024596.5(MCPH1):c.2418C>A (p.Ala806=) rs2912016 0.37333
NM_024915.4(GRHL2):c.*41G>A rs3735713 0.37317
NM_001099287.1(NIPAL4):c.-10A>G rs1105282 0.37314
NM_001692.4(ATP6V1B1):c.1060+103G>A rs2072463 0.37308
NM_024915.4(GRHL2):c.1764-19C>T rs10093032 0.37291
NM_001692.4(ATP6V1B1):c.1002C>T (p.Arg334=) rs2072462 0.37260
NM_001042472.3(ABHD12):c.*83G>A rs2424708 0.37241
NM_144498.4(OSBPL2):c.394-17C>T rs2236526 0.37206
NM_001292063.2(OTOG):c.2561+14G>A rs4756902 0.37182
NM_005529.7(HSPG2):c.7873+25A>C rs2290501 0.37177
NM_000057.4(BLM):c.2555+7T>C rs3815003 0.37072
NM_130384.3(ATRIP):c.*1632= rs11797 0.37009
NM_182961.4(SYNE1):c.24968G>C (p.Gly8323Ala) rs2252755 0.36980
NM_015102.5(NPHP4):c.2802C>T (p.Arg934=) rs3747992 0.36928
NM_000082.4(ERCC8):c.*105T>C rs3117 0.36900
NM_003630.3(PEX3):c.524-19T>C rs22908 0.36866
NM_138387.4(G6PC3):c.-129C>T rs228758 0.36841
NM_001287.6(CLCN7):c.1618-49G>A rs742408 0.36776
NM_000352.6(ABCC8):c.2117-3C>T rs1799854 0.36733
NM_004260.4(RECQL4):c.3014G>A (p.Arg1005Gln) rs4251691 0.36660
NM_003322.6(TULP1):c.776T>C (p.Ile259Thr) rs2064317 0.36637
NM_015311.3(OBSL1):c.1283-18T>A rs2292360 0.36635
NM_003701.4(TNFSF11):c.*948G>T rs1054016 0.36610
NM_018718.3(CEP41):c.*4295G>C rs4728195 0.36596
NM_014053.4(FLVCR1):c.*788C>T rs6670064 0.36556
NM_014053.4(FLVCR1):c.*626T>A rs11582817 0.36511
NM_004260.4(RECQL4):c.3502+24G>A rs2279243 0.36505
NM_012463.4(ATP6V0A2):c.-14C>T rs1139320 0.36505
NM_000286.3(PEX12):c.*836G>C rs10068 0.36472
NM_017791.3(FLVCR2):c.-96T>C rs11845734 0.36446
NM_004426.3(PHC1):c.2077A>G (p.Thr693Ala) rs1049925 0.36410
NM_000414.4(HSD17B4):c.434+44T>C rs457106 0.36386
NM_000277.3(PAH):c.969+43G>T rs1522306 0.36369
NM_022153.2(VSIR):c.20T>C (p.Leu7Pro) rs3747862 0.36326
NM_001129.5(AEBP1):c.817C>A (p.Pro273Thr) rs2537188 0.36288
NM_173477.5(USH1G):c.*1900G>C rs1568448 0.36197
NM_015404.4(WHRN):c.-510G>A rs10759714 0.36192
NM_001122769.3(LCA5):c.1967G>A (p.Gly656Asp) rs1875845 0.36167
NM_001367624.2(ZNF469):c.7156G>C (p.Gly2386Arg) rs12598474 0.36151
NM_014415.4(ZBTB11):c.1624-4C>T rs11712748 0.36125
NM_014363.6(SACS):c.9981T>C (p.Ala3327=) rs2737700 0.36123
NM_000287.4(PEX6):c.883-3T>C rs9986447 0.36088
NM_001267727.2(ARSG):c.707C>G (p.Thr236Ser) rs1558876 0.36075
NM_206933.4(USH2A):c.10585+143A>C rs6665799 0.36073
NM_004260.4(RECQL4):c.738C>T (p.Ser246=) rs4244613 0.36043
NM_004937.3(CTNS):c.461+49A>G rs457419 0.35954
NM_001256317.3(TMPRSS3):c.*206A>G rs225309 0.35946
NM_004937.3(CTNS):c.141-103G>A rs222778 0.35912
NM_001171.6(ABCC6):c.4404-31A>G rs212097 0.35863
NM_153676.4(USH1C):c.2547-11T>C rs10832795 0.35821
NM_004100.5(EYA4):c.*23C>T rs3734279 0.35809
NM_001267550.2(TTN):c.65682A>G (p.Thr21894=) rs4894029 0.35796
NM_194248.3(OTOF):c.244C>T (p.Arg82Cys) rs13031859 0.35740
NM_207361.6(FREM2):c.*342G>A rs9603463 0.35702
NM_015311.3(OBSL1):c.580C>T (p.Leu194=) rs1061399 0.35689
NM_001292063.2(OTOG):c.8241C>T (p.Cys2747=) rs10832824 0.35674
NM_001166114.2(PNPLA6):c.2818-19A>G rs563826 0.35658
NM_001267550.2(TTN):c.56101A>G (p.Asn18701Asp) rs1001238 0.35628
NM_001292063.2(OTOG):c.8364G>C (p.Leu2788=) rs2023483 0.35618
NM_001267550.2(TTN):c.61245A>G (p.Thr20415=) rs2163009 0.35615
NM_001166114.2(PNPLA6):c.2635-19A>C rs539887 0.35604
NM_001267550.2(TTN):c.62058T>C (p.Tyr20686=) rs1560221 0.35601
NM_001267550.2(TTN):c.31564A>G (p.Ile10522Val) rs2042995 0.35566
NM_001267550.2(TTN):c.105384A>G (p.Ala35128=) rs3813250 0.35546
NM_001267550.2(TTN):c.83673T>C (p.Gly27891=) rs2366751 0.35531
NM_001267550.2(TTN):c.83323A>G (p.Ile27775Val) rs3829746 0.35516
NM_001039141.3(TRIOBP):c.3975G>A (p.Gln1325=) rs7284476 0.35508
NM_001039141.3(TRIOBP):c.3885C>T (p.Ser1295=) rs739137 0.35439
NM_004525.3(LRP2):c.4294+19C>T rs830973 0.35398
NM_001039141.3(TRIOBP):c.2589C>A (p.Asn863Lys) rs9610841 0.35396
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr) rs9808377 0.35383
NM_001039141.3(TRIOBP):c.3559T>C (p.Phe1187Leu) rs5756795 0.35350
NM_015404.4(WHRN):c.-391C>A rs4527950 0.35348
NM_001384140.1(PCDH15):c.3717+35T>C rs10825135 0.35243
NM_020921.4(NIN):c.2616C>A (p.Ala872=) rs2073349 0.35221
NM_000426.4(LAMA2):c.7845G>A (p.Pro2615=) rs2229850 0.35164
NM_021830.5(TWNK):c.-605G>T rs3740484 0.35155
NM_133261.3(GIPC3):c.226-22A>G rs8100350 0.35153
NM_015981.4(CAMK2A):c.1467-4A>G rs55976097 0.35152
NM_001267550.2(TTN):c.97795+6G>T rs3731750 0.35139
NM_012205.3(HAAO):c.440+19C>T rs2241850 0.35102
NM_015102.5(NPHP4):c.3570A>G (p.Glu1190=) rs555164 0.35094
NM_139343.3(BIN1):c.1573-128T>A rs2071270 0.35075
NM_000277.3(PAH):c.696= (p.Gln232=) rs1126758 0.35009
NM_015102.5(NPHP4):c.3645-38C>T rs1287634 0.34998
NM_000751.3(CHRND):c.*885T>C rs1004175 0.34980
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile) rs2042996 0.34979
NM_001124758.3(SPNS2):c.436+31G>A rs9894697 0.34965
NM_001146079.2(CLDN14):c.-264G>C rs188733 0.34950
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=) rs2292487 0.34915
NM_020066.5(FMN2):c.2517C>G (p.Thr839=) rs10926166 0.34857
NM_017777.4(MKS1):c.261+67A>G rs7225148 0.34782
NM_000277.3(PAH):c.60+134A>G rs1522295 0.34771
NM_000254.3(MTR):c.3492C>A (p.Arg1164=) rs12070777 0.34762
NM_004937.3(CTNS):c.970+70C>T rs222753 0.34692
NM_022124.6(CDH23):c.7055-16A>G rs4747193 0.34615
NM_014865.4(NCAPD2):c.3573-13C>T rs7316224 0.34606
NM_024753.5(TTC21B):c.1695C>T (p.Tyr565=) rs6750044 0.34586
NM_000254.3(MTR):c.3144A>G (p.Ala1048=) rs2229276 0.34551
NM_001081.4(CUBN):c.2487G>A (p.Ser829=) rs1801225 0.34517
NM_014865.4(NCAPD2):c.127+27C>T rs6489718 0.34476
NM_001692.4(ATP6V1B1):c.1249-89C>T rs2270263 0.34451
NM_016373.4(WWOX):c.108-12G>T rs67493355 0.34450
NM_000260.4(MYO7A):c.6439-31G>A rs883223 0.34445
NM_014865.4(NCAPD2):c.3483C>T (p.Asn1161=) rs740850 0.34433
NM_016239.4(MYO15A):c.8322C>T (p.Ser2774=) rs712272 0.34416
NM_000277.3(PAH):c.60+62C>T rs1522296 0.34408
NM_153700.2(STRC):c.179T>C (p.Phe60Ser) rs2729509 0.34286
NM_016239.4(MYO15A):c.8045A>T (p.Tyr2682Phe) rs712270 0.34278
NM_016239.4(MYO15A):c.8460-15C>T rs861278 0.34259
NM_003384.3(VRK1):c.217-244T>C rs12586511 0.34167
NM_001184.4(ATR):c.5208T>C (p.Tyr1736=) rs2227931 0.34166
NM_015294.6(TRIM37):c.*634A>T rs28475409 0.34158
NM_016239.4(MYO15A):c.2152T>G (p.Trp718Gly) rs2955367 0.34123
NM_000162.5(GCK):c.1253+8C>T rs2908274 0.34109
NM_017755.6(NSUN2):c.97-6C>T rs10076470 0.34106
NM_000245.4(MET):c.4092G>A (p.Pro1364=) rs41737 0.34093
NM_000751.3(CHRND):c.*52A>G rs2767 0.34088
NM_001146079.2(CLDN14):c.-290A>G rs219742 0.34026
NM_000245.4(MET):c.4017G>A (p.Ala1339=) rs2023748 0.34017
NM_000162.5(GCK):c.*759del rs55714218 0.33944
NM_018451.5(CENPJ):c.*683dup rs397718122 0.33944
NM_000426.4(LAMA2):c.3174+38A>G rs902373 0.33937
NM_017755.6(NSUN2):c.51G>A (p.Glu17=) rs10062086 0.33934
NM_206933.4(USH2A):c.12666A>G (p.Thr4222=) rs2797234 0.33929
NM_005529.7(HSPG2):c.9852T>C (p.Ala3284=) rs2291826 0.33918
NM_004937.3(CTNS):c.*2569C>T rs7093 0.33888
NM_000245.4(MET):c.3858C>T (p.Asp1286=) rs41736 0.33828
NM_004999.4(MYO6):c.*3940T>C rs11964034 0.33693
NM_014321.4(ORC6):c.-20T>C rs33994299 0.33690
NM_001184.4(ATR):c.1815T>C (p.Asp605=) rs2227929 0.33689
NM_032119.4(ADGRV1):c.6695A>G (p.Tyr2232Cys) rs10037067 0.33642
NM_022124.6(CDH23):c.2060-176C>T rs2290026 0.33636
NM_001081.4(CUBN):c.*601A>G rs780635 0.33593
NM_139343.3(BIN1):c.1132-126_1132-125dup rs35339559 0.33588
NM_001267550.2(TTN):c.26289A>G (p.Glu8763=) rs2562838 0.33531
NM_020632.3(ATP6V0A4):c.1478+45G>A rs55843107 0.33512
NM_031471.6(FERMT3):c.787-10C>A rs11603538 0.33480
NM_004999.4(MYO6):c.*350T>C rs699186 0.33478
NM_153717.3(EVC):c.939+4C>T rs2286343 0.33466
NM_001347702.2(SYNE1):c.1458A>G (p.Glu486=) rs2747662 0.33426
NM_024649.5(BBS1):c.*955G>A rs1791686 0.33323
NM_139343.3(BIN1):c.412-25T>C rs67327804 0.33319
NM_024596.5(MCPH1):c.23-26G>A rs1550697 0.33312
NM_004525.3(LRP2):c.248A>G (p.Asn83Ser) rs2229263 0.33289
NM_024753.5(TTC21B):c.2175T>C (p.Phe725=) rs10176588 0.33260
NM_001145809.2(MYH14):c.*122A>C rs12978083 0.33223
NM_138694.4(PKHD1):c.8441-32G>C rs3920621 0.33143
NM_014028.4(OSTM1):c.*1883T>C rs7662 0.33096
NM_194292.3(SASS6):c.776C>T (p.Ala259Val) rs13375867 0.33090
NM_025132.4(WDR19):c.3183+16A>G rs11096987 0.33074
NM_015404.4(WHRN):c.-91C>T rs2297814 0.33038
NM_015404.4(WHRN):c.117G>A (p.Val39=) rs2297815 0.33019
NM_001292063.2(OTOG):c.2561+10G>A rs4756901 0.33002
NM_014028.4(OSTM1):c.*2301A>G rs9386700 0.32980
NM_002485.5(NBN):c.2071-30A>T rs3736639 0.32860
NM_002693.3(POLG):c.3105-11T>C rs2302084 0.32855
NM_002485.5(NBN):c.2184+123G>A rs7840099 0.32815
NM_002473.6(MYH9):c.*596G>A rs136200 0.32779
NM_001367624.2(ZNF469):c.8093T>A (p.Leu2698Gln) rs3812956 0.32763
NM_002485.5(NBN):c.102G>A (p.Leu34=) rs1063045 0.32752
NM_000302.4(PLOD1):c.1206C>T (p.Asn402=) rs1130529 0.32745
NM_002485.5(NBN):c.1915-7A>G rs2308962 0.32733
NM_003384.3(VRK1):c.705C>T (p.Gly235=) rs2230532 0.32707
NM_003896.3(ST3GAL5):c.-140C>A rs28364795 0.32699
NM_006019.4(TCIRG1):c.417+11A>G rs3808974 0.32688
NM_000091.5(COL4A3):c.828+59C>G rs7559693 0.32638
NM_006279.5(ST3GAL3):c.209+9925A>G rs37458 0.32581
NM_025074.7(FRAS1):c.8439C>T (p.Asp2813=) rs11098194 0.32564
NM_001267550.2(TTN):c.2244G>A (p.Glu748=) rs6715406 0.32532
NM_025074.7(FRAS1):c.7011G>A (p.Ala2337=) rs6851427 0.32517
NM_005012.4(ROR1):c.1353A>G (p.Val451=) rs6668545 0.32509
NM_032119.4(ADGRV1):c.5960C>T (p.Pro1987Leu) rs4916685 0.32486
NM_002485.5(NBN):c.994+233G>A rs6990969 0.32471
NM_003384.3(VRK1):c.45A>G (p.Ala15=) rs2145635 0.32398
NM_002160.4(TNC):c.1867+31T>A rs1617917 0.32336
NM_000277.3(PAH):c.*187G>A rs1801153 0.32335
NM_138694.4(PKHD1):c.9998+49A>G rs2397060 0.32325
NM_181741.4(ORC4):c.233A>G (p.Asn78Ser) rs2307394 0.32301
NM_001145809.2(MYH14):c.1114+13C>T rs11666328 0.32285
NM_181503.3(EXOSC8):c.321G>A (p.Gln107=) rs1127446 0.32239
NM_001166114.2(PNPLA6):c.1253-6C>T rs574930 0.32237
NM_001292063.2(OTOG):c.2719G>A (p.Ala907Thr) rs2355466 0.32233
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) rs1044498 0.32168
NM_182548.4(LHFPL5):c.*512A>T rs149225394 0.32164
NM_022095.4(ZNF335):c.642C>T (p.Ser214=) rs3848719 0.32130
NM_000277.3(PAH):c.510-54G>A rs2251905 0.32128
NM_001143992.2(WRAP53):c.202C>G (p.Arg68Gly) rs2287499 0.32078
NM_002693.3(POLG):c.3105-36A>G rs2246900 0.31986
NM_025074.7(FRAS1):c.1396T>A (p.Leu466Ile) rs12504081 0.31848
NM_025074.7(FRAS1):c.9808A>C (p.Arg3270=) rs3749488 0.31772
NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln) rs13181 0.31719
NM_000124.4(ERCC6):c.*379C>G rs4253234 0.31692
NM_001171.6(ABCC6):c.1233T>C (p.Asn411=) rs9930886 0.31672
NM_017433.5(MYO3A):c.3597G>A (p.Glu1199=) rs3740232 0.31670
NM_001142633.3(PIK3R5):c.2383-27T>C rs4791765 0.31643
NM_002485.5(NBN):c.*1209A>C rs1063054 0.31611
NM_002454.3(MTRR):c.524C>T (p.Ser175Leu) rs1532268 0.31601
NM_000124.4(ERCC6):c.2751C>T (p.Gly917=) rs2229760 0.31596
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala) rs2296871 0.31596
NM_002485.5(NBN):c.*1754T>C rs9995 0.31588
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) rs2296869 0.31585
NM_000360.4(TH):c.241G>A (p.Val81Met) rs6356 0.31555
NM_003383.5(VLDLR):c.-56C>T rs34881325 0.31505
NM_080680.3(COL11A2):c.877-4T>A rs1799907 0.31476
NM_145861.4(EDARADD):c.*1562T>C rs7513402 0.31448
NM_020779.4(WDR35):c.2915A>G (p.Glu972Gly) rs1191778 0.31383
NM_003383.5(VLDLR):c.82+7G>A rs2219143 0.31376
NM_003047.5(SLC9A1):c.69T>C (p.Val23=) rs34306208 0.31344
NM_176824.3(BBS7):c.-133C>G rs2271176 0.31261
NM_001199799.2(ILDR1):c.791C>G (p.Pro264Arg) rs3915061 0.31231
NM_002454.3(MTRR):c.1911G>A (p.Ala637=) rs1802059 0.31218
NM_001321120.2(TBX4):c.402-8G>A rs758596 0.31194
NM_032119.4(ADGRV1):c.7206G>A (p.Glu2402=) rs16876822 0.31193
NM_153676.4(USH1C):c.522-45del rs5789990 0.31188
NM_032119.4(ADGRV1):c.7034A>G (p.Asn2345Ser) rs2366926 0.31179
NM_001267550.2(TTN):c.23099-3T>C rs2562830 0.31174
NM_000231.3(SGCG):c.*254G>A rs3751371 0.31172
NM_032119.4(ADGRV1):c.6952-10G>A rs10040165 0.31172
NM_015404.4(WHRN):c.964-21A>G rs2274163 0.31128
NM_002485.5(NBN):c.*541G>C rs2735383 0.31125
NM_006765.4(TUSC3):c.309-6T>C rs1035972 0.31124
NM_005807.6(PRG4):c.1810A>G (p.Thr604Ala) rs61831150 0.31104
NM_004618.5(TOP3A):c.2022-39C>A rs6502644 0.31103
NM_020247.5(COQ8A):c.*464G>A rs8159 0.31059
NM_025074.7(FRAS1):c.5366+13T>G rs2170899 0.31001
NM_005881.4(BCKDK):c.615G>A (p.Thr205=) rs14235 0.30943
NM_001614.5(ACTG1):c.930C>T (p.Ala310=) rs1135989 0.30776
NM_001384474.1(LOXHD1):c.4530+25C>T rs59252058 0.30760
NM_032193.4(RNASEH2C):c.*2036C>T rs3372 0.30708
NM_194248.3(OTOF):c.510-39C>T rs884390 0.30697
NM_001127671.2(LIFR):c.*1470T>G rs13156520 0.30679
NM_001127671.2(LIFR):c.*5670A>G rs3822425 0.30662
NM_138694.4(PKHD1):c.9998+175T>C rs35999523 0.30649
NM_001127671.2(LIFR):c.*6190C>T rs1046224 0.30641
NM_001384474.1(LOXHD1):c.6293C>T (p.Ala2098Val) rs1377016 0.30620
NM_138694.4(PKHD1):c.9237G>A (p.Ala3079=) rs765525 0.30589
NM_138694.4(PKHD1):c.8643-72C>T rs9370049 0.30583
NM_139343.3(BIN1):c.698+10A>G rs72481904 0.30545
NM_201384.3(PLEC):c.*10C>T rs1065837 0.30524
NM_139343.3(BIN1):c.774+62G>A rs2071268 0.30494
NM_001039876.3(SYNE4):c.225G>A (p.Pro75=) rs2285424 0.30451
NM_000123.4(ERCC5):c.3310G>C (p.Asp1104His) rs17655 0.30419
NM_018136.5(ASPM):c.7939C>A (p.Leu2647Ile) rs3762271 0.30411
NM_001378454.1(ALMS1):c.9561C>T (p.Thr3187=) rs11884776 0.30410
NM_018136.5(ASPM):c.4449A>G (p.Lys1483=) rs2878749 0.30404
NM_001127671.2(LIFR):c.*3834C>G rs34130318 0.30347
NM_001142633.3(PIK3R5):c.2496-46A>G rs4791764 0.30344
NM_024596.5(MCPH1):c.*181C>G rs2433149 0.30338
NM_002485.5(NBN):c.553G>C (p.Glu185Gln) rs1805794 0.30329
NM_002485.5(NBN):c.*273G>A rs1063053 0.30308
NM_153676.4(USH1C):c.580-27G>A rs6486378 0.30297
NM_018136.5(ASPM):c.7684A>G (p.Ser2562Gly) rs41310927 0.30288
NM_015261.3(NCAPD3):c.1525+18T>A rs2305379 0.30281
NM_018972.4(GDAP1):c.*1855A>G rs6472842 0.30274
NM_014425.5(INVS):c.1235-5T>C rs2245216 0.30271
NM_000782.4(CYP24A1):c.*1327G>A rs4811494 0.30270
NM_004525.3(LRP2):c.639C>T (p.Asp213=) rs2229266 0.30270
NM_001171.6(ABCC6):c.1245G>A (p.Val415=) rs9940825 0.30255
NM_018136.5(ASPM):c.5961A>G (p.Gln1987=) rs41310925 0.30222
NM_004393.6(DAG1):c.2256C>T (p.His752=) rs1801143 0.30176
NM_201384.3(PLEC):c.4413T>C (p.Ala1471=) rs35916068 0.30160
NM_001127671.2(LIFR):c.561+216A>G rs1822815 0.30148
NM_025074.7(FRAS1):c.604-132G>A rs6856362 0.30120
NM_032119.4(ADGRV1):c.9927T>G (p.Pro3309=) rs16869042 0.30112
NM_002485.5(NBN):c.1124+18C>T rs2234744 0.30095
NM_002485.5(NBN):c.2016A>G (p.Pro672=) rs1061302 0.30090
NM_015341.5(NCAPH):c.1616T>C (p.Val539Ala) rs2305935 0.30067
NM_025132.4(WDR19):c.891C>T (p.Cys297=) rs2167494 0.30055
NM_201384.3(PLEC):c.5907T>C (p.Ala1969=) rs2857829 0.29968
NM_201384.3(PLEC):c.4045-4A>G rs7002152 0.29962
NM_201384.3(PLEC):c.8495G>A (p.Arg2832His) rs6558407 0.29956
NM_201384.3(PLEC):c.3757-6A>G rs11136333 0.29944
NM_201384.3(PLEC):c.6441G>A (p.Ala2147=) rs7016416 0.29943
NM_201384.3(PLEC):c.3550T>C (p.Leu1184=) rs3135109 0.29936
NM_001013693.3(LDLRAD2):c.*475G>C rs1049644 0.29929
NM_201384.3(PLEC):c.3840+48A>G rs11782890 0.29923
NM_201384.3(PLEC):c.3746G>A (p.Arg1249Gln) rs11136334 0.29922
NM_201384.3(PLEC):c.4680G>A (p.Ala1560=) rs55836855 0.29922
NM_201384.3(PLEC):c.7581A>C (p.Ala2527=) rs11778026 0.29910
NM_201384.3(PLEC):c.6170C>T (p.Ala2057Val) rs7002002 0.29901
NM_201384.3(PLEC):c.7426-35C>T rs11786903 0.29882
NM_001127671.2(LIFR):c.1292-80T>A rs16903989 0.29875
NM_201384.3(PLEC):c.8253C>T (p.Asn2751=) rs11777402 0.29844
NM_001267550.2(TTN):c.26091A>T (p.Leu8697=) rs2562836 0.29823
NM_201384.3(PLEC):c.4455T>G (p.Ala1485=) rs56117011 0.29823
NM_201384.3(PLEC):c.5928G>A (p.Ala1976=) rs1140522 0.29794
NM_201384.3(PLEC):c.10665G>A (p.Thr3555=) rs6984820 0.29792
NM_017697.4(ESRP1):c.984C>T (p.Val328=) rs1549466 0.29789
NM_182961.4(SYNE1):c.24825G>A (p.Pro8275=) rs2252748 0.29787
NM_138694.4(PKHD1):c.234C>T (p.Asp78=) rs9474143 0.29769
NM_015028.4(TNIK):c.1419+19A>G rs6444965 0.29767
NM_001267550.2(TTN):c.26655C>T (p.Ser8885=) rs2562839 0.29759
NM_004407.4(DMP1):c.205A>T (p.Ser69Cys) rs10019009 0.29735
NM_015114.3(ANKLE2):c.2159G>A (p.Arg720His) rs10781634 0.29679
NM_201384.3(PLEC):c.7425+37C>T rs11786934 0.29669
NM_001351132.2(PEX5):c.967-26C>G rs3816424 0.29645
NM_001101426.4(CRPPA):c.55A>C (p.Ser19Arg) rs7782939 0.29616
NM_203486.3(DLL3):c.515T>G (p.Phe172Cys) rs8107127 0.29570
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665 0.29501
NM_017651.4(AHI1):c.-293G>T rs13197384 0.29491
NM_153700.2(STRC):c.4842C>T (p.Phe1614=) rs3097773 0.29444
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081 0.29390
NM_001111.5(ADAR):c.2682G>A (p.Val894=) rs1127309 0.29372
NM_203486.3(DLL3):c.352-18C>G rs2304223 0.29309
NM_176824.3(BBS7):c.*419T>A rs3762840 0.29292
NM_020066.5(FMN2):c.4403G>A (p.Arg1468His) rs3795677 0.29272
NM_201384.3(PLEC):c.1095T>C (p.Asp365=) rs11783799 0.29245
NM_201384.3(PLEC):c.1169+43T>A rs11783772 0.29193
NM_201384.3(PLEC):c.4476G>A (p.Ala1492=) rs55646585 0.29155
NM_201384.3(PLEC):c.1511C>T (p.Ala504Val) rs11136336 0.29153
NM_002618.4(PEX13):c.*952C>T rs56739127 0.29127
NM_012478.4(WBP2):c.60-42C>T rs936391 0.29127
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu) rs2627043 0.29094
NM_001142633.3(PIK3R5):c.2299+18T>G rs9903447 0.29072
NM_139343.3(BIN1):c.486T>C (p.Thr162=) rs1060743 0.29063
NM_005807.6(PRG4):c.538C>T (p.Arg180Trp) rs2273779 0.29059
NM_000091.5(COL4A3):c.144+12C>A rs1882435 0.29027
NM_012188.5(FOXI1):c.279G>A (p.Arg93=) rs2277944 0.29024
NM_004836.6(EIF2AK3):c.*1007C>G rs33957402 0.29006
NM_015114.3(ANKLE2):c.364C>T (p.His122Tyr) rs1132375 0.28969
NM_201384.3(PLEC):c.2923+37C>T rs11136335 0.28946
NM_207361.6(FREM2):c.*5899C>T rs1945504 0.28925
NM_001080449.3(DNA2):c.507C>A (p.Ala169=) rs3758626 0.28903
NM_020631.6(PLEKHG5):c.713C>G (p.Thr238Ser) rs61741379 0.28900
NM_000019.3(ACAT1):c.*599A>C rs2280332 0.28837
NM_004568.6(SERPINB6):c.54G>A (p.Thr18=) rs2236277 0.28827
NM_021830.5(TWNK):c.*766A>T rs3740488 0.28823
NM_001374623.1(PNPLA1):c.1469C>T (p.Thr490Met) rs12197079 0.28772
NM_001083961.2(WDR62):c.700-18C>T rs10423651 0.28763
NM_018699.4(PRDM5):c.681A>G (p.Leu227=) rs343192 0.28756
NM_000553.6(WRN):c.4083C>T (p.Ser1361=) rs1801196 0.28751
NM_012210.4(TRIM32):c.*1206T>C rs2281627 0.28741
NM_006208.3(ENPP1):c.*1091A>C rs7754586 0.28727
NM_000782.5(CYP24A1):c.*140T>C rs4809957 0.28683
NM_000782.5(CYP24A1):c.1125G>A (p.Pro375=) rs2296239 0.28667
NM_021830.5(TWNK):c.1593-5C>T rs3740485 0.28642
NM_021830.5(TWNK):c.1593-3T>C rs3740486 0.28631
NM_000760.4(CSF3R):c.1254T>C (p.Arg418=) rs3917980 0.28603
NM_001142633.3(PIK3R5):c.933A>G (p.Leu311=) rs11650737 0.28596
NM_001142633.3(PIK3R5):c.1011C>T (p.Asp337=) rs16957702 0.28549
NM_147127.5(EVC2):c.3507C>T (p.His1169=) rs12511039 0.28547
NM_022124.6(CDH23):c.7073G>A (p.Arg2358Gln) rs4747194 0.28536
NM_020751.3(COG6):c.1009+9A>G rs4129745 0.28442
NM_022124.6(CDH23):c.6130G>A (p.Glu2044Lys) rs10466026 0.28442
NM_014956.5(CEP164):c.2963C>G (p.Thr988Ser) rs2305830 0.28431
NM_005422.4(TECTA):c.4098G>A (p.Thr1366=) rs12275038 0.28426
NM_000320.3(QDPR):c.396G>A (p.Leu132=) rs2597775 0.28406
NM_014875.3(KIF14):c.4897C>G (p.Pro1633Ala) rs12120084 0.28388
NM_001195263.2(PDZD7):c.1934-55C>T rs807020 0.28374
NM_000320.3(QDPR):c.*622T>C rs10604 0.28366
NM_004415.4(DSP):c.7122C>T (p.Thr2374=) rs2076300 0.28306
NM_006796.3(AFG3L2):c.*28G>C rs1129115 0.28281
NM_206933.4(USH2A):c.1419C>T (p.Thr473=) rs1805050 0.28143
NM_004836.7(EIF2AK3):c.1791A>G (p.Gln597=) rs1805164 0.28054
NM_004407.4(DMP1):c.1230G>A (p.Glu410=) rs2615497 0.28028
NM_002860.4(ALDH18A1):c.*699C>T rs4037 0.28027
NM_001111.5(ADAR):c.15+10G>T rs58655370 0.27999
NM_002860.4(ALDH18A1):c.2110+24A>T rs2296691 0.27977
NM_002860.4(ALDH18A1):c.*412T>C rs8758 0.27959
NM_203486.3(DLL3):c.1029C>T (p.Pro343=) rs2304214 0.27957
NM_203486.3(DLL3):c.410-40C>T rs2278440 0.27956
NM_000019.4(ACAT1):c.13G>C (p.Ala5Pro) rs3741056 0.27945
NM_016373.4(WWOX):c.-5C>T rs11545028 0.27934
NM_014363.6(SACS):c.-13A>G rs17078720 0.27905
NM_147127.5(EVC2):c.1437A>G (p.Glu479=) rs13131655 0.27893
NM_000208.4(INSR):c.*1494G>A rs3745550 0.27864
NM_001395413.1(POR):c.1239+12C>T rs2286822 0.27856
NM_017875.4(SLC25A38):c.626-36G>C rs870843 0.27843
NM_022124.6(CDH23):c.7139C>T (p.Pro2380Leu) rs4747195 0.27841
NM_004407.4(DMP1):c.*35G>A rs2627724 0.27831
NM_000091.5(COL4A3):c.4154-69C>T rs11680670 0.27813
NM_001376256.1(CRYM):c.325-12T>C rs226045 0.27780
NM_001165960.1(ALOXE3):c.32C>T (p.Pro11Leu) rs3027232 0.27769
NM_005807.6(PRG4):c.3138A>G (p.Pro1046=) rs3737940 0.27761
NM_173551.5(ANKS6):c.165C>T (p.Ala55=) rs138948716 0.27756
NM_032575.3(GLIS2):c.1311A>C (p.Ala437=) rs3810817 0.27719
NM_014918.5(CHSY1):c.1905G>C (p.Val635=) rs28364839 0.27694
NM_002617.4(PEX10):c.*173G>A rs1129171 0.27656
NM_022095.4(ZNF335):c.1102+39C>T rs3746513 0.27648
NM_022124.6(CDH23):c.6830-81G>A rs7068357 0.27610
NM_000360.4(TH):c.977+8C>G rs12419447 0.27597
NM_014780.5(CUL7):c.3993G>A (p.Leu1331=) rs2273917 0.27596
NM_032119.4(ADGRV1):c.11599G>A (p.Glu3867Lys) rs10062026 0.27574
NM_018161.5(NADSYN1):c.317+22C>T rs1629220 0.27561
NM_014630.3(ZNF592):c.2777G>A (p.Ser926Asn) rs8182086 0.27524
NM_138694.4(PKHD1):c.527+19T>C rs9474140 0.27509
NM_001160372.4(TRAPPC9):c.1134+21A>G rs3779658 0.27421
NM_153717.3(EVC):c.1563+1771A>G rs6828631 0.27419
NM_001134831.2(AHI1):c.*218C>T rs1052502 0.27386
NM_015261.3(NCAPD3):c.1689+20A>G rs1125399 0.27325
NM_022124.6(CDH23):c.7572G>A (p.Ala2524=) rs10823849 0.27322
NM_000254.3(MTR):c.2594+15T>C rs1770449 0.27320
NM_020631.6(PLEKHG5):c.2001T>C (p.Ser667=) rs730600 0.27319
NM_000414.4(HSD17B4):c.1210-78T>C rs257969 0.27308
NM_020921.4(NIN):c.6192+12C>T rs1983764 0.27302
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166 0.27295
NM_001077418.3(TMEM231):c.582+17T>A rs2738801 0.27293
NM_020631.6(PLEKHG5):c.*290T>C rs14708 0.27269
NM_000414.4(HSD17B4):c.1993+74G>C rs17145464 0.27235
NM_000782.5(CYP24A1):c.*715C>G rs6022987 0.27231
NM_004565.3(PEX14):c.84+10837A>G rs616488 0.27206
NM_001384474.1(LOXHD1):c.2048-102A>G rs1824682 0.27202
NM_001366722.1(GRIP1):c.503-15C>A rs11838180 0.27190
NM_012210.4(TRIM32):c.-133G>C rs12342207 0.27173
NM_001614.5(ACTG1):c.363+58G>A rs9912409 0.27171
NM_004415.4(DSP):c.2862C>T (p.Cys954=) rs2064217 0.27166
NM_022124.6(CDH23):c.1487G>A (p.Ser496Asn) rs10999947 0.27136
NM_001128228.3(TPRN):c.559G>T (p.Ala187Ser) rs9411313 0.27092
NM_018389.5(SLC35C1):c.-3A>G rs3808976 0.27016
NM_001099287.2(NIPAL4):c.*782T>C rs3734029 0.27002
NM_000382.3(ALDH3A2):c.153+39C>T rs4646793 0.26984
NM_176824.3(BBS7):c.*690T>C rs3217753 0.26976
NM_207361.6(FREM2):c.*5542T>A rs7327529 0.26970
NM_000382.3(ALDH3A2):c.472-56G>A rs2072332 0.26925
NM_001128431.4(SLC39A14):c.1333-25G>A rs10101909 0.26917
NM_018972.4(GDAP1):c.*2214A>G rs10504580 0.26909
NM_198428.3(BBS9):c.1275+13G>T rs11981364 0.26909
NM_182961.4(SYNE1):c.21656+13T>C rs9383976 0.26855
NM_015340.4(LARS2):c.1983G>A (p.Thr661=) rs11549809 0.26851
NM_207361.6(FREM2):c.*4770C>T rs6563648 0.26840
NM_182961.4(SYNE1):c.130-25C>T rs2141152 0.26785
NM_000334.4(SCN4A):c.3318+12C>A rs13341114 0.26769
NM_004618.5(TOP3A):c.1527C>T (p.Asp509=) rs2230154 0.26761
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His) rs3219489 0.26720
NM_015311.3(OBSL1):c.4566C>T (p.Cys1522=) rs3087971 0.26702
NM_153717.3(EVC):c.1068A>G (p.Leu356=) rs33929747 0.26691
NM_001134793.2(HYLS1):c.91T>C (p.Cys31Arg) rs667782 0.26652
NM_207361.6(FREM2):c.*3481G>A rs2184141 0.26619
NM_000426.4(LAMA2):c.2799A>G (p.Gln933=) rs1027199 0.26612
NM_207361.6(FREM2):c.*3192T>C rs7337135 0.26600
NM_004415.4(DSP):c.*197C>T rs12250 0.26572
NM_021942.6(TRAPPC11):c.2851+46G>A rs62358033 0.26555
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr) rs7551175 0.26545
NM_017875.4(SLC25A38):c.*310A>T rs12991 0.26507
NM_001378615.1(CC2D2A):c.3595-22C>T rs4280724 0.26375
NM_001384474.1(LOXHD1):c.1654+69C>T rs12606558 0.26319
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn) rs1799793 0.26310
NM_182961.4(SYNE1):c.17346+7G>A rs9383985 0.26223
NM_024596.5(MCPH1):c.2215-15C>G rs11137040 0.26204
NM_000019.4(ACAT1):c.1005+25C>T rs10890819 0.26160
NM_006642.5(SDCCAG8):c.1473+48dup rs398050192 0.26150
NM_001384140.1(PCDH15):c.594+232A>G rs2153822 0.26148
NM_006736.6(DNAJB2):c.66-14C>T rs2276638 0.26148
NM_024596.5(MCPH1):c.2482C>T (p.Pro828Ser) rs1057091 0.26146
NM_005422.4(TECTA):c.4105+13C>T rs7130952 0.26144
NM_207361.6(FREM2):c.*2926G>A rs1945508 0.26131
NM_207361.6(FREM2):c.*4560G>A rs2225623 0.26118
NM_000019.4(ACAT1):c.-9T>A rs3741055 0.26111
NM_015311.3(OBSL1):c.4067-34T>C rs13010015 0.26103
NM_001034852.3(SMOC1):c.858-26C>T rs116375526 0.26100
NM_005012.4(ROR1):c.1553C>T (p.Thr518Met) rs7527017 0.26086
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) rs3816873 0.26064
NM_020632.3(ATP6V0A4):c.1478+17A>G rs6467797 0.26043
NM_000253.3(MTTP):c.-241G>A rs11944752 0.26041
NM_016219.5(MAN1B1):c.1765-5C>A rs12115325 0.25976
NM_005422.4(TECTA):c.2256C>T (p.Ile752=) rs10502247 0.25910
NM_000382.3(ALDH3A2):c.471+31T>C rs1004491 0.25856
NM_153717.3(EVC):c.*2268G>A rs4261923 0.25768
NM_020401.4(NUP107):c.1998+14G>T rs7976871 0.25758
NM_001194998.2(CEP152):c.3466+8G>C rs2306187 0.25704
NM_001146079.2(CLDN14):c.243C>T (p.Arg81=) rs219779 0.25678
NM_004614.5(TK2):c.-38A>G rs3743716 0.25659
NM_001048166.1(STIL):c.2954A>G (p.His985Arg) rs13376679 0.25624
NM_020779.4(WDR35):c.*523G>A rs957614 0.25621
NM_020779.4(WDR35):c.*231C>A rs1056233 0.25618
NM_005876.5(SPEG):c.7839G>A (p.Pro2613=) rs875098 0.25609
NM_004565.3(PEX14):c.156C>T (p.Phe52=) rs12375 0.25602
NM_018136.5(ASPM):c.3138G>A (p.Arg1046=) rs6676084 0.25582
NM_000492.4(CFTR):c.4137-139G>A rs4727855 0.25573
NM_006642.5(SDCCAG8):c.1134A>T (p.Glu378Asp) rs2275155 0.25552
NM_022124.6(CDH23):c.2059+79C>T rs1227086 0.25536
NM_018319.4(TDP1):c.-230-14C>A rs28365055 0.25524
NM_002381.5(MATN3):c.1406-4C>T rs35973216 0.25515
NM_020964.3(EPG5):c.4532C>T (p.Ala1511Val) rs1893523 0.25513
NM_002473.6(MYH9):c.*261G>C rs11089787 0.25506
NM_000426.4(LAMA2):c.3411+13G>A rs3798663 0.25503
NM_000466.3(PEX1):c.1484-36G>A rs2111200 0.25489
NM_001023570.4(IQCB1):c.1301G>A (p.Cys434Tyr) rs17849995 0.25469
NM_000400.4(ERCC2):c.2133C>T (p.Asp711=) rs1052555 0.25433
NM_001009994.3(RIPPLY2):c.12G>A (p.Ala4=) rs9353143 0.25423
NM_198525.3(KIF7):c.3517+6C>T rs74251725 0.25419
NM_000260.4(MYO7A):c.6354+35G>A rs3819170 0.25401
NM_005876.5(SPEG):c.9390G>T (p.Pro3130=) rs12473286 0.25371
NM_001366722.1(GRIP1):c.418+26A>G rs66522623 0.25360
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.25357
NM_000492.4(CFTR):c.1393-61A>G rs34855237 0.25355
NM_018319.4(TDP1):c.291A>G (p.Gln97=) rs3825663 0.25304
NM_005876.5(SPEG):c.6566C>T (p.Pro2189Leu) rs10755037 0.25298
NM_018109.4(MTPAP):c.555+19C>T rs1047988 0.25271
NM_001283009.2(RTEL1):c.766-19G>A rs2297437 0.25212
NM_004525.3(LRP2):c.8614G>A (p.Ala2872Thr) rs2228171 0.25207
NM_001384474.1(LOXHD1):c.1135-70C>A rs12608365 0.25114
NM_021942.6(TRAPPC11):c.2370C>T (p.Thr790=) rs4862234 0.25098
NM_020964.3(EPG5):c.63+18C>T rs555802868 0.25000
NM_025074.7(FRAS1):c.*282A>T rs3749485 0.24962
NM_001286445.3(RIPOR2):c.2540G>A (p.Arg847Gln) rs9461073 0.24950
NM_001166114.2(PNPLA6):c.3699+42G>A rs538852 0.24937
NM_001206999.2(CIT):c.4077C>T (p.Ser1359=) rs278102 0.24929
NM_024649.5(BBS1):c.1180+116T>C rs3819247 0.24920
NM_000260.4(MYO7A):c.6318G>A (p.Lys2106=) rs11237123 0.24897
NM_014028.4(OSTM1):c.*1407A>G rs12567 0.24864
NM_198525.3(KIF7):c.3319-30A>C rs72750748 0.24857
NM_000260.4(MYO7A):c.4442-113A>G rs3781692 0.24810
NM_014028.4(OSTM1):c.*1038A>G rs1064346 0.24805
NM_001374623.1(PNPLA1):c.504+11C>T rs2239796 0.24754
NM_004086.3(COCH):c.*27A>T rs13122 0.24742
NM_006846.4(SPINK5):c.1156G>A (p.Asp386Asn) rs2303064 0.24722
NM_013382.7(POMT2):c.-64G>A rs2270421 0.24706
NM_001142633.3(PIK3R5):c.1101G>A (p.Ser367=) rs9915880 0.24687
NM_018669.6(WDR4):c.1169G>A (p.Arg390Gln) rs6586250 0.24647
NM_018109.4(MTPAP):c.484C>T (p.Arg162Cys) rs1047991 0.24628
NM_005236.3(ERCC4):c.2505T>C (p.Ser835=) rs1799801 0.24619
NM_001142633.3(PIK3R5):c.2299+13G>A rs9902600 0.24618
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_025074.7(FRAS1):c.108+2546T>C rs10008489 0.24570
NM_003383.5(VLDLR):c.2416+8G>T rs6145 0.24562
NM_000211.5(ITGB2):c.994-47G>A rs2838725 0.24547
NM_003052.5(SLC34A1):c.774T>C (p.His258=) rs5030873 0.24542
NM_001206999.2(CIT):c.3157-11C>T rs11064891 0.24533
NM_005529.7(HSPG2):c.12312T>C (p.Asp4104=) rs2228347 0.24480
NM_000302.4(PLOD1):c.294C>T (p.Phe98=) rs7529452 0.24445
NM_004100.5(EYA4):c.*2108A>G rs17053541 0.24433
NM_005879.3(TRAIP):c.240+45G>A rs13316065 0.24391
NM_001267550.2(TTN):c.67637-17T>C rs2288571 0.24363
NM_015046.7(SETX):c.5374+16C>T rs2296872 0.24325
NM_014918.5(CHSY1):c.303G>C (p.Arg101=) rs7176149 0.24315
NM_015046.7(SETX):c.5781+12dup rs3831154 0.24271
NM_025074.7(FRAS1):c.3406G>A (p.Glu1136Lys) rs12512164 0.24213
NM_016373.4(WWOX):c.606-17G>A rs4130513 0.24208
NM_004937.3(CTNS):c.*737T>A rs222754 0.24184
NM_002180.3(IGHMBP2):c.2011A>G (p.Thr671Ala) rs622082 0.24183
NM_002180.3(IGHMBP2):c.2316C>T (p.Ser772=) rs546382 0.24174
NM_001367624.2(ZNF469):c.*8G>A rs45504291 0.24166
NM_024649.5(BBS1):c.724-8G>C rs10896125 0.24158
NM_024596.5(MCPH1):c.1782G>A (p.Thr594=) rs2584 0.24125
NM_138775.3(ALKBH8):c.1030+9A>G rs12574614 0.24106
NM_006996.3(SLC19A2):c.*967A>G rs16862199 0.24080
NM_000208.4(INSR):c.1610+28A>C rs2860177 0.24043
NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met) rs3731746 0.24029
NM_020661.4(AICDA):c.*89A>C rs11046349 0.23977
NM_032119.4(ADGRV1):c.6012G>T (p.Leu2004Phe) rs16868972 0.23938
NM_000360.4(TH):c.720G>A (p.Lys240=) rs6357 0.23916
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile) rs2303838 0.23912
NM_000019.4(ACAT1):c.238+134A>C rs7931681 0.23898
NM_001171.6(ABCC6):c.1432-41A>G rs2239322 0.23891
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.23806
NM_206933.4(USH2A):c.8559-65T>C rs7518358 0.23802
NM_001384140.1(PCDH15):c.1263T>C (p.Thr421=) rs7921598 0.23801
NM_177398.4(LMX1A):c.349C>T (p.Leu117=) rs10753668 0.23781
NM_001163809.2(WDR81):c.5506-19C>G rs62090051 0.23717
NM_001171.6(ABCC6):c.1635+48C>T rs55707615 0.23698
NM_022089.4(ATP13A2):c.3084-3C>T rs7531163 0.23688
NM_002473.6(MYH9):c.*800T>C rs7078 0.23633
NM_024753.5(TTC21B):c.*1105G>T rs6756388 0.23631
NM_182961.4(SYNE1):c.*182G>A rs12681 0.23624
NM_033071.4(SYNE1):c.*750G>T rs2813558 0.23608
NM_153676.4(USH1C):c.579+61G>A rs72870320 0.23593
NM_006736.6(DNAJB2):c.-36-110G>C rs908197 0.23575
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530 0.23571
NM_001384474.1(LOXHD1):c.6183-11del rs143514947 0.23567
NM_194248.3(OTOF):c.372A>G (p.Thr124=) rs11687696 0.23539
NM_000492.4(CFTR):c.3964-283T>C rs10266116 0.23537
NM_182961.4(SYNE1):c.8384C>T (p.Ala2795Val) rs214950 0.23524
NM_018718.3(CEP41):c.*4037A>G rs7793239 0.23508
NM_000211.5(ITGB2):c.1101C>A (p.Val367=) rs2230529 0.23426
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=) rs1800136 0.23407
NM_001267550.2(TTN):c.70830C>T (p.Ser23610=) rs12464787 0.23390
NM_006118.4(HAX1):c.-58T>G rs11265425 0.23384
NM_014918.5(CHSY1):c.57C>T (p.Gly19=) rs7175303 0.23372
NM_003104.6(SORD):c.806A>C (p.Asn269Thr) rs930337 0.23350
NM_024649.5(BBS1):c.*840A>G rs3741360 0.23322
NM_015404.4(WHRN):c.1627-12G>A rs2274160 0.23283
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) rs1801449 0.23274
NM_001379180.1(ESRRB):c.*2504T>C rs3813545 0.23239
NM_144672.4(OTOA):c.3056-23C>T rs201448090 0.23237
NM_001145809.2(MYH14):c.2355-17C>T rs28482851 0.23202
NM_001171.6(ABCC6):c.1338+62C>G rs58394656 0.23048
NM_000277.3(PAH):c.353-22C>T rs2037639 0.23047
NM_025074.7(FRAS1):c.8745C>T (p.Phe2915=) rs41327848 0.23030
NM_005236.3(ERCC4):c.207+11G>A rs762521 0.22979
NM_015028.4(TNIK):c.2316C>T (p.Leu772=) rs2291900 0.22910
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472 0.22903
NM_002180.3(IGHMBP2):c.*681T>C rs9095 0.22873
NM_004560.4(ROR2):c.98-15G>C rs7863557 0.22863
NM_001163809.2(WDR81):c.*56A>G rs2287322 0.22860
NM_001098484.3(SLC4A4):c.*938G>C rs1062679 0.22831
NM_001384140.1(PCDH15):c.1138G>A (p.Gly380Ser) rs10825269 0.22813
NM_000208.4(INSR):c.*784C>G rs1051651 0.22772
NM_000525.4(KCNJ11):c.570C>T (p.Ala190=) rs5218 0.22765
NM_025074.7(FRAS1):c.7254A>G (p.Lys2418=) rs34840208 0.22689
NM_000360.4(TH):c.313-88G>A rs4930043 0.22682
NM_002454.3(MTRR):c.284-64C>G rs2303079 0.22681
NM_000208.4(INSR):c.*4474C>T rs1052371 0.22677
NM_001160372.4(TRAPPC9):c.1692C>T (p.Asn564=) rs12549048 0.22639
NM_000208.3(INSR):c.*4802C>T rs12150997 0.22638
NM_004999.4(MYO6):c.2658+17C>T rs2295936 0.22603
NM_020631.6(PLEKHG5):c.-88+5G>A rs3007429 0.22575
NM_004836.7(EIF2AK3):c.1763+6A>T rs6750998 0.22566
NM_004999.4(MYO6):c.*12C>T rs12606 0.22544
NM_014780.5(CUL7):c.339C>T (p.Asp113=) rs4711738 0.22523
NM_080680.3(COL11A2):c.3384C>T (p.Pro1128=) rs1799911 0.22509
NM_001254.4(CDC6):c.1321G>A (p.Val441Ile) rs13706 0.22496
NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg) rs1346044 0.22492
NM_020632.3(ATP6V0A4):c.*239G>A rs8846 0.22481
NM_020066.5(FMN2):c.1830A>G (p.Ser610=) rs3765588 0.22473
NM_001267550.2(TTN):c.18029-19G>C rs17076 0.22460
NM_014053.4(FLVCR1):c.*844T>C rs12565125 0.22460
NM_153700.2(STRC):c.4878C>G (p.Leu1626=) rs12438025 0.22424
NM_153700.2(STRC):c.4845-13T>C rs12437957 0.22423
NM_001384140.1(PCDH15):c.2786G>A (p.Arg929Gln) rs2135720 0.22399
NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys) rs17612126 0.22387
NM_002454.3(MTRR):c.781-80G>A rs162035 0.22379
NM_015272.5(RPGRIP1L):c.1401+127A>G rs7192060 0.22379
NM_005199.5(CHRNG):c.921-12C>T rs13018423 0.22363
NM_000320.2(QDPR):c.-81delC rs67496406 0.22322
NM_002180.3(IGHMBP2):c.*427C>T rs3750980 0.22234
NM_001163809.2(WDR81):c.5127G>A (p.Pro1709=) rs8065251 0.22229
NM_004836.7(EIF2AK3):c.407C>G (p.Ser136Cys) rs867529 0.22211
NM_004568.6(SERPINB6):c.268A>G (p.Met90Val) rs2295769 0.22197
NM_013382.7(POMT2):c.*2325A>G rs11547793 0.22179
NM_001384140.1(PCDH15):c.2220+47T>C rs3812657 0.22115
NM_153700.2(STRC):c.3893A>G (p.His1298Arg) rs2920780 0.22075
NM_002473.6(MYH9):c.*238G>T rs11703176 0.22062
NM_000211.5(ITGB2):c.2248-127G>C rs235375 0.22047
NM_138691.3(TMC1):c.241G>A (p.Glu81Lys) rs1796993 0.21988
NM_000211.5(ITGB2):c.819G>A (p.Gly273=) rs2230528 0.21986
NM_004618.5(TOP3A):c.916-49G>A rs2294913 0.21931
NM_001077418.3(TMEM231):c.-6G>C rs3743602 0.21908
NM_001163809.2(WDR81):c.2739G>A (p.Leu913=) rs9912287 0.21861
NM_025074.7(FRAS1):c.6444C>T (p.Thr2148=) rs17003235 0.21846
NM_000211.4(ITGB2):c.-111T>C rs2070947 0.21817
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21790
NM_014363.6(SACS):c.6195T>C (p.Ile2065=) rs4143768 0.21785
NM_014053.4(FLVCR1):c.*931C>T rs12567713 0.21766
NM_014956.5(CEP164):c.281G>A (p.Ser94Asn) rs490262 0.21761
NM_014363.6(SACS):c.8853T>C (p.Val2951=) rs9552929 0.21755
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala) rs17078605 0.21747
NM_000277.3(PAH):c.1065+97G>A rs12580432 0.21736
NM_014363.6(SACS):c.12304T>C (p.Leu4102=) rs2737699 0.21736
NM_147127.5(EVC2):c.688A>G (p.Ser230Gly) rs4689278 0.21710
NM_001042472.3(ABHD12):c.423-68C>T rs2274890 0.21695
NM_014053.4(FLVCR1):c.1307+19T>A rs2291772 0.21660
NM_014053.4(FLVCR1):c.*1106C>T rs12567728 0.21651
NM_001163809.2(WDR81):c.5640C>T (p.Ser1880=) rs8077638 0.21643
NM_014053.4(FLVCR1):c.*673G>A rs41301027 0.21642
NM_014053.4(FLVCR1):c.1593+9T>C rs17019870 0.21623
NM_014053.4(FLVCR1):c.*2968G>A rs10902 0.21622
NM_000318.3(PEX2):c.-164C>A rs12718 0.21609
NM_001267550.2(TTN):c.33287G>A (p.Arg11096His) rs36051007 0.21486
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr) rs12463674 0.21485
NM_001267550.2(TTN):c.57315T>C (p.His19105=) rs35833641 0.21406
NM_004937.3(CTNS):c.*405G>A rs760273 0.21386
NM_020401.4(NUP107):c.1998+15G>T rs7976876 0.21375
NM_153717.3(EVC):c.939+114G>A rs28609792 0.21365
NM_001081.4(CUBN):c.939C>T (p.Asn313=) rs1801223 0.21191
NM_000277.3(PAH):c.168+19T>C rs17842947 0.21168
NM_024649.5(BBS1):c.518+55C>T rs2276406 0.21160
NM_024649.5(BBS1):c.378G>A (p.Leu126=) rs2298806 0.21158
NM_024649.5(BBS1):c.1608+95C>T rs2305532 0.21152
NM_001379286.1(ZNF423):c.2697T>C (p.Cys899=) rs3803667 0.21148
NM_015160.3(PMPCA):c.1200+33G>A rs4604565 0.21146
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly) rs1805087 0.21137
NM_000092.5(COL4A4):c.657+67A>G rs58363082 0.21126
NM_176824.3(BBS7):c.*1286G>A rs1507996 0.21106
NM_014053.4(FLVCR1):c.*2908G>A rs1284853 0.21097
NM_153717.3(EVC):c.*1318G>C rs67547790 0.21091
NM_153676.4(USH1C):c.2340C>T (p.Val780=) rs10832796 0.21080
NM_152618.3(BBS12):c.-124G>A rs309358 0.21071
NM_014053.4(FLVCR1):c.*3313G>T rs15903 0.21069
NM_152618.3(BBS12):c.-10-41A>T rs309368 0.21057
NM_000208.4(INSR):c.1861+27C>T rs3815902 0.21056
NM_012478.4(WBP2):c.168+36T>C rs936393 0.21034
NM_020964.3(EPG5):c.4646+35T>C rs3826634 0.21003
NM_015311.3(OBSL1):c.2681-33del rs55904205 0.21002
NM_022095.4(ZNF335):c.1103-7G>A rs3746512 0.20987
NM_001395413.1(POR):c.378A>G (p.Pro126=) rs1135612 0.20982
NM_002454.3(MTRR):c.537T>C (p.Leu179=) rs161870 0.20980
NM_000211.5(ITGB2):c.24G>T (p.Leu8=) rs11088969 0.20978
NM_000243.3(MEFV):c.605G>A (p.Arg202Gln) rs224222 0.20976
NM_002454.3(MTRR):c.1049A>G (p.Lys350Arg) rs162036 0.20973
NM_004715.5(CTDP1):c.978G>A (p.Thr326=) rs599554 0.20817
NM_020751.3(COG6):c.1074+18T>C rs9548882 0.20795
NM_000092.5(COL4A4):c.657+62G>A rs59938187 0.20743
NM_003104.6(SORD):c.908+11C>T rs28495265 0.20727
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_004426.3(PHC1):c.2860+12C>T rs3026261 0.20711
NM_139343.3(BIN1):c.1674+56G>A rs7568161 0.20707
NM_015341.5(NCAPH):c.1131T>C (p.Asp377=) rs3731935 0.20690
NM_001267550.2(TTN):c.11422C>T (p.Pro3808Ser) rs2627037 0.20680
NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp) rs2236654 0.20662
NM_002180.3(IGHMBP2):c.1554C>T (p.Val518=) rs11228413 0.20651
NM_144596.4(TTC8):c.*238G>A rs1048190 0.20574
NM_015311.3(OBSL1):c.2682C>T (p.Asp894=) rs3183099 0.20573
NM_022124.6(CDH23):c.5503-44T>C rs7068810 0.20565
NM_198525.3(KIF7):c.154G>A (p.Asp52Asn) rs8179065 0.20556
NM_020964.3(EPG5):c.4089C>T (p.His1363=) rs3744996 0.20554
NM_031885.5(BBS2):c.367A>G (p.Ile123Val) rs11373 0.20545
NM_001384140.1(PCDH15):c.55T>G (p.Ser19Ala) rs11004439 0.20535
NM_001145809.2(MYH14):c.3680+9C>T rs76579307 0.20534
NM_000286.3(PEX12):c.*166C>A rs1037590 0.20532
NM_021116.4(ADCY1):c.3090G>A (p.Arg1030=) rs2293106 0.20517
NM_004100.5(EYA4):c.*2184A>T rs17053542 0.20492
NM_013382.7(POMT2):c.*75C>T rs1055592 0.20469
NM_004100.5(EYA4):c.*726C>A rs55805978 0.20466
NM_022089.4(ATP13A2):c.2790G>A (p.Ser930=) rs3738815 0.20463
NM_152618.3(BBS12):c.*248G>A rs4833843 0.20459
NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=) rs73125627 0.20422
NM_001267550.2(TTN):c.36508G>A (p.Glu12170Lys) rs2163008 0.20385
NM_005422.4(TECTA):c.2795T>C (p.Val932Ala) rs520805 0.20376
NM_206933.4(USH2A):c.3812-8T>G rs646094 0.20360
NM_206933.4(USH2A):c.4627+1038T>C rs439940 0.20332
NM_153717.3(EVC):c.801+240C>T rs1480169 0.20327
NM_001146079.2(CLDN14):c.687G>A (p.Thr229=) rs219780 0.20318
NM_006014.5(LAGE3):c.*19G>C rs6567 0.20303
NM_005708.5(GPC6):c.*3693A>G rs7988636 0.20296
NM_174878.3(CLRN1):c.254-2294A>C rs11914988 0.20293
NM_000208.4(INSR):c.3255C>T (p.His1085=) rs1799817 0.20288
NM_001384140.1(PCDH15):c.319-31T>C rs11594958 0.20278
NM_032119.4(ADGRV1):c.8538T>G (p.Leu2846=) rs6880570 0.20255
NM_206933.4(USH2A):c.4627+1142G>T rs401269 0.20255
NM_139343.3(BIN1):c.858-12C>A rs6720741 0.20254
NM_153717.3(EVC):c.1465-47A>C rs4642178 0.20086
NM_000180.4(GUCY2D):c.2345T>A (p.Leu782His) rs8069344 0.20071
NM_000337.6(SGCD):c.*3772dup rs397841758 0.20069
NM_020921.4(NIN):c.3331C>G (p.Pro1111Ala) rs2236316 0.20068
NM_018319.4(TDP1):c.*77C>T rs9488 0.20063
NM_001171.6(ABCC6):c.3633+55C>T rs3213470 0.20050
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala) rs1227049 0.20047
NM_001384140.1(PCDH15):c.5156A>C (p.Gln1719Pro) rs17704703 0.20017
NM_001287.6(CLCN7):c.676-85G>A rs8061743 0.20005
NM_018699.4(PRDM5):c.1234T>C (p.Leu412=) rs12499000 0.19996
NM_182961.4(SYNE1):c.*103C>A rs2250122 0.19913
NM_022124.6(CDH23):c.5100C>T (p.Tyr1700=) rs10762480 0.19882
NM_003790.3(TNFRSF25):c.-16C>T rs3007417 0.19870
NM_021252.5(RAB18):c.*3696T>A rs10829269 0.19806
NM_018669.6(WDR4):c.1045+38C>T rs8133179 0.19799
NM_015272.5(RPGRIP1L):c.3432+67G>A rs113961478 0.19784
NM_000277.3(PAH):c.735G>A (p.Val245=) rs1042503 0.19782
NM_003383.5(VLDLR):c.1313-17A>T rs6144 0.19776
NM_000543.5(SMPD1):c.1522G>A (p.Gly508Arg) rs1050239 0.19762
NM_207361.6(FREM2):c.7984-10G>A rs9532295 0.19705
NM_003052.5(SLC34A1):c.389-20C>T rs3812036 0.19698
NM_000211.5(ITGB2):c.*122G>A rs684 0.19694
NM_014026.6(DCPS):c.189C>T (p.Phe63=) rs695029 0.19665
NM_000082.4(ERCC8):c.435T>C (p.Tyr145=) rs4647100 0.19656
NM_001292063.2(OTOG):c.8690G>C (p.Trp2897Ser) rs11024357 0.19620
NM_004415.4(DSP):c.5213G>A (p.Arg1738Gln) rs6929069 0.19612
NM_014336.5(AIPL1):c.268G>C (p.Asp90His) rs12449580 0.19586
NM_015404.4(WHRN):c.1318G>A (p.Ala440Thr) rs4978584 0.19569
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527 0.19565
NM_015404.4(WHRN):c.1416+22A>T rs4979386 0.19539
NM_004937.3(CTNS):c.*555T>C rs1048646 0.19518
NM_004937.3(CTNS):c.*572A>G rs3826493 0.19518
NM_000260.4(MYO7A):c.133-88C>T rs12279716 0.19502
NM_004937.3(CTNS):c.*627T>C rs1048647 0.19492
NM_004937.3(CTNS):c.*631T>C rs1048648 0.19488
NM_001130987.2(DYSF):c.6321+15C>T rs2559082 0.19470
NM_004937.3(CTNS):c.*300C>G rs2873624 0.19455
NM_004937.3(CTNS):c.*715C>T rs1048649 0.19427
NM_020631.5(PLEKHG5):c.*990C>T rs3007418 0.19422
NM_004937.3(CTNS):c.*421T>C rs760274 0.19404
NM_004937.3(CTNS):c.*410A>G rs3826496 0.19387
NM_004565.3(PEX14):c.384+14A>T rs284238 0.19360
NM_020921.4(NIN):c.1974T>C (p.His658=) rs4901055 0.19347
NM_002485.5(NBN):c.*1977T>C rs14448 0.19329
NM_004999.4(MYO6):c.*3447A>C rs1341567 0.19296
NM_001171.6(ABCC6):c.3633+90G>A rs2376957 0.19271
NM_018389.5(SLC35C1):c.*1315C>T rs55758172 0.19265
NM_018389.5(SLC35C1):c.*1074C>T rs4756026 0.19261
NM_020921.4(NIN):c.1775-26G>C rs12883882 0.19247
NM_144672.4(OTOA):c.179+27G>A rs12445216 0.19188
NM_015404.4(WHRN):c.2388C>A (p.Asn796Lys) rs2274158 0.19185
NM_016239.4(MYO15A):c.9518-11T>C rs62073604 0.19159
NM_004525.3(LRP2):c.5100C>T (p.Ser1700=) rs2302694 0.19156
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile) rs11120616 0.19146
NM_016239.4(MYO15A):c.9486C>T (p.Asp3162=) rs8077577 0.19129
NM_000260.4(MYO7A):c.6558+16G>A rs883224 0.19125
NM_001081.4(CUBN):c.5343-8C>A rs2271463 0.19092
NM_000492.4(CFTR):c.3368-140A>C rs213981 0.19089
NM_182961.4(SYNE1):c.20530-14G>A rs2296254 0.19082
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) rs2228526 0.19072
NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val) rs10896380 0.19067
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396 0.19057
NM_017721.5(CC2D1A):c.2402C>T (p.Thr801Met) rs2305777 0.19038
NM_004937.3(CTNS):c.*1025A>G rs1048674 0.19022
NM_138694.4(PKHD1):c.8441-68T>C rs7775050 0.19022
NM_004937.3(CTNS):c.*1024C>T rs1048673 0.19015
NM_152618.3(BBS12):c.1410C>T (p.Cys470=) rs13135445 0.19015
NM_000492.4(CFTR):c.3874-200G>A rs214164 0.18968
NM_001130987.2(DYSF):c.3086-17G>A rs3764971 0.18932
NM_015311.3(OBSL1):c.2055C>A (p.Ala685=) rs1043537 0.18910
NM_018249.6(CDK5RAP2):c.2274T>C (p.Asp758=) rs2501727 0.18906
NM_000162.5(GCK):c.*332G>A rs13306388 0.18894
NM_004937.3(CTNS):c.*1116C>T rs1048682 0.18891
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529 0.18890
NM_170707.4(LMNA):c.357-739T>G rs513043 0.18886
NM_015311.3(OBSL1):c.1818C>T (p.Phe606=) rs61732787 0.18850
NM_002109.6(HARS1):c.1458+7G>A rs58302597 0.18812
NM_014425.5(INVS):c.274-15_274-14del rs61147858 0.18785
NM_002180.3(IGHMBP2):c.-2C>T rs4930624 0.18778
NM_020631.6(PLEKHG5):c.1681-20T>C rs2986753 0.18735
NM_004937.3(CTNS):c.*1152A>G rs2235104 0.18705
NM_000277.3(PAH):c.509+101A>C rs10860933 0.18689
NM_000391.4(TPP1):c.1075+42C>T rs2072651 0.18683
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=) rs11558179 0.18595
NM_145861.4(EDARADD):c.369C>T (p.Asp123=) rs604070 0.18581
NM_000492.4(CFTR):c.3469-65C>A rs213989 0.18576
NM_005199.5(CHRNG):c.*568C>T rs72991939 0.18562
NM_025074.7(FRAS1):c.*33T>A rs72659058 0.18560
NM_018718.3(CEP41):c.*2041G>A rs73152868 0.18522
NM_005199.5(CHRNG):c.*496A>G rs72991937 0.18514
NM_020458.4(TTC7A):c.1612G>C (p.Val538Leu) rs2304290 0.18502
NM_005708.5(GPC6):c.*1665C>A rs7334430 0.18473
NM_002473.6(MYH9):c.1728+37_1728+44del rs3842715 0.18442
NM_170784.3(MKKS):c.117C>T (p.Pro39=) rs16991547 0.18435
NM_003839.4(TNFRSF11A):c.*1624G>C rs12455323 0.18364
NM_001009994.3(RIPPLY2):c.96-4G>A rs2298290 0.18347
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_001127671.2(LIFR):c.*5169T>A rs3822426 0.18293
NM_018972.4(GDAP1):c.*1878G>T rs16938896 0.18293
NM_004715.5(CTDP1):c.1461G>A (p.Pro487=) rs2126082 0.18278
NM_001039141.3(TRIOBP):c.-14C>G rs12484441 0.18268
NM_207361.6(FREM2):c.1542C>T (p.Ala514=) rs12874397 0.18215
NM_018972.4(GDAP1):c.*357A>G rs1135715 0.18199
NM_018972.4(GDAP1):c.*830C>G rs4737414 0.18198
NM_002454.3(MTRR):c.1783C>T (p.His595Tyr) rs10380 0.18188
NM_000329.3(RPE65):c.*531A>G rs3118418 0.18178
NM_003383.5(VLDLR):c.1066+43C>T rs10967320 0.18162
NM_000334.4(SCN4A):c.*1427T>C rs2727278 0.18159
NM_025074.7(FRAS1):c.9116-6C>T rs76630865 0.18150
NM_000334.4(SCN4A):c.*1271T>A rs2727277 0.18122
NM_005529.7(HSPG2):c.11352+25C>A rs2270701 0.18117
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_001098484.3(SLC4A4):c.*77A>C rs1062677 0.18093
NM_002894.3(RBBP8):c.2115G>A (p.Lys705=) rs17852769 0.18089
NM_001127453.2(GSDME):c.405-15G>A rs754553 0.18061
NM_139319.3(SLC17A8):c.-218T>C rs10860582 0.18033
NM_025074.7(FRAS1):c.10377C>T (p.Thr3459=) rs3749487 0.18004
NM_002454.3(MTRR):c.1557+54T>C rs16879356 0.17987
NM_024649.5(BBS1):c.1413C>T (p.Leu471=) rs3816492 0.17957
NM_016239.4(MYO15A):c.*612C>G rs10048161 0.17931
NM_000441.2(SLC26A4):c.*868G>A rs2712218 0.17928
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe) rs6820907 0.17921
NM_005219.5(DIAPH1):c.*1041G>A rs6892185 0.17917
NM_000334.4(SCN4A):c.*22A>G rs2228995 0.17899
NM_013382.7(POMT2):c.1911= (p.Leu637=) rs3209079 0.17887
NM_014806.5(RUSC2):c.3342-10C>T rs2295842 0.17831
NM_001127671.2(LIFR):c.2353G>A (p.Val785Ile) rs3110234 0.17829
NM_001127671.2(LIFR):c.2167+21T>C rs3110971 0.17819
NR_003051.4(RMRP):n.179C>T rs7021642 0.17814
NM_015261.3(NCAPD3):c.1090-33A>G rs10791349 0.17800
NM_025074.7(FRAS1):c.4635G>A (p.Pro1545=) rs78575519 0.17765
NM_032119.4(ADGRV1):c.2735-34C>G rs16868901 0.17765
NM_000782.5(CYP24A1):c.*50C>T rs2762934 0.17757
NM_032119.4(ADGRV1):c.2241-19G>T rs1344030 0.17743
NM_000360.4(TH):c.312+289G>C rs7482510 0.17720
NM_014425.5(INVS):c.-110T>G rs7024375 0.17693
NM_001171.6(ABCC6):c.2490C>T (p.Ala830=) rs9924755 0.17690
NM_020458.4(TTC7A):c.1066-13G>A rs13407983 0.17668
NM_005866.4(SIGMAR1):c.5A>C (p.Gln2Pro) rs1800866 0.17661
NM_001692.4(ATP6V1B1):c.138C>T (p.Ser46=) rs2266918 0.17658
NM_145861.4(EDARADD):c.*1787C>T rs6428955 0.17627
NM_005199.5(CHRNG):c.1422C>T (p.Arg474=) rs2099489 0.17611
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp) rs2228528 0.17598
NM_198428.3(BBS9):c.1363G>A (p.Ala455Thr) rs11773504 0.17589
NM_153717.3(EVC):c.301-80G>A rs2276875 0.17578
NM_000057.4(BLM):c.3102G>A (p.Thr1034=) rs2227933 0.17570
NM_001267550.2(TTN):c.2432C>T (p.Thr811Ile) rs35813871 0.17564
NM_001256317.3(TMPRSS3):c.*2G>A rs13047838 0.17560
NR_003051.4(RMRP):n.158G>C rs7021463 0.17549
NM_021252.5(RAB18):c.*3484T>C rs11598268 0.17485
NM_031471.6(FERMT3):c.1506C>T (p.Leu502=) rs3802933 0.17484
NM_015102.5(NPHP4):c.1441+13A>G rs7520105 0.17476
NM_021252.5(RAB18):c.*3476A>G rs11597728 0.17476
NM_017791.3(FLVCR2):c.376C>T (p.Leu126=) rs8011292 0.17455
NM_001384140.1(PCDH15):c.1306-4123C>T rs16905686 0.17435
NM_000092.5(COL4A4):c.2164+78G>A rs11898094 0.17434
NM_001384140.1(PCDH15):c.4671+1344A>C rs11003863 0.17427
NM_206933.4(USH2A):c.4082-44G>A rs447102 0.17427
NM_024301.5(FKRP):c.-34C>T rs3201779 0.17414
NM_005708.5(GPC6):c.1234G>A (p.Val412Met) rs1535692 0.17412
NM_004415.4(DSP):c.1dup (p.Met1fs) rs17133512 0.17362
NM_002473.6(MYH9):c.4876A>G (p.Ile1626Val) rs2269529 0.17342
NM_001098484.3(SLC4A4):c.*175del rs138389345 0.17341
NM_001081.4(CUBN):c.6124+8C>T rs2271461 0.17332
NM_001127453.2(GSDME):c.489G>A (p.Thr163=) rs754555 0.17320
NM_020458.4(TTC7A):c.798G>A (p.Glu266=) rs17480869 0.17316
NM_001098484.3(SLC4A4):c.2443-38G>A rs3733362 0.17313
NM_002473.6(MYH9):c.4872G>T (p.Ala1624=) rs2269530 0.17309
NM_001042545.2(LTBP4):c.*20G>A rs1051481 0.17303
NM_206933.4(USH2A):c.11946G>A (p.Leu3982=) rs2820718 0.17214
NM_003896.4(ST3GAL5):c.311A>G (p.His104Arg) rs1138484 0.17151
NM_013382.7(POMT2):c.1383= (p.Arg461=) rs2270419 0.17126
NM_022124.6(CDH23):c.3370-46T>C rs3802712 0.17108
NM_018718.3(CEP41):c.*1859G>T rs73152869 0.17105
NM_000543.5(SMPD1):c.*45G>A rs8164 0.17086
NM_018669.6(WDR4):c.567-16T>C rs7278765 0.17080
NM_020458.4(TTC7A):c.2544A>G (p.Val848=) rs3739099 0.17069
NM_018389.5(SLC35C1):c.-303G>C rs12289963 0.17005
NM_005529.7(HSPG2):c.7294+25G>A rs2290500 0.16981
NM_001080414.4(CCDC88C):c.114C>T (p.Tyr38=) rs45437097 0.16963
NM_001098484.3(SLC4A4):c.253+47A>G rs4694388 0.16961
NM_006208.3(ENPP1):c.*1539A>G rs9493121 0.16942
NM_000211.5(ITGB2):c.500-11G>T rs55865320 0.16920
NM_206933.4(USH2A):c.5013C>A (p.Gly1671=) rs56110889 0.16907
NM_004700.4(KCNQ4):c.1365T>G (p.His455Gln) rs34287852 0.16898
NM_014053.4(FLVCR1):c.*1600G>A rs55793082 0.16870
NM_024753.5(TTC21B):c.*517G>A rs77199262 0.16849
NM_002473.6(MYH9):c.*732C>T rs12107 0.16843
NM_000019.4(ACAT1):c.471C>A (p.Ser157=) rs35188041 0.16806
NM_001267550.2(TTN):c.8902+14del rs573000455 0.16798
NM_000334.4(SCN4A):c.4539C>A (p.Ile1513=) rs56342400 0.16783
NM_006996.3(SLC19A2):c.-4C>T rs2072757 0.16749
NM_016239.4(MYO15A):c.5212-14C>T rs2072652 0.16745
NM_001267550.2(TTN):c.8902+16del rs570467105 0.16737
NM_000057.4(BLM):c.3358+32T>G rs17273842 0.16733
NM_016239.4(MYO15A):c.6052G>A (p.Gly2018Arg) rs2272571 0.16711
NM_000207.3(INS):c.*9C>T rs3842752 0.16663
NM_001081.4(CUBN):c.9030T>C (p.Ala3010=) rs1801241 0.16648
NM_024753.5(TTC21B):c.*531A>G rs56115495 0.16645
NM_001692.4(ATP6V1B1):c.89C>T (p.Thr30Ile) rs17720303 0.16644
NM_153676.4(USH1C):c.1414-34G>A rs2237964 0.16591
NM_000372.2(TYR):c.-199C>A rs1799989 0.16584
NM_001256317.3(TMPRSS3):c.757A>G (p.Ile253Val) rs2839500 0.16545
NM_022095.4(ZNF335):c.3522A>T (p.Pro1174=) rs16990951 0.16529
NM_178170.3(NEK8):c.1170T>C (p.Gly390=) rs3809797 0.16512
NM_004525.3(LRP2):c.5859A>G (p.Arg1953=) rs11886219 0.16510
NM_001267550.2(TTN):c.98098+9T>A rs2288325 0.16490
NM_153717.3(EVC):c.1563+1897C>T rs56328334 0.16475
NM_000057.4(BLM):c.2308-50G>A rs17273206 0.16462
NM_001267550.2(TTN):c.104988C>T (p.Val34996=) rs3829748 0.16457
NM_001267550.2(TTN):c.22384G>C (p.Asp7462His) rs12693166 0.16435
NM_213599.3(ANO5):c.2520+25G>C rs11026488 0.16418
NM_006208.3(ENPP1):c.*3837T>C rs55725924 0.16400
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708 0.16388
NM_006208.3(ENPP1):c.*3511T>C rs9483350 0.16375
NM_002454.2(MTRR):c.-119T>C rs72716536 0.16355
NM_001127453.2(GSDME):c.1200A>G (p.Ala400=) rs17149912 0.16349
NM_001267550.2(TTN):c.33834G>A (p.Glu11278=) rs35112591 0.16327
NM_015046.7(SETX):c.*562C>A rs11787894 0.16282
NM_033064.5(ATCAY):c.1074-14T>C rs10420591 0.16262
NM_000231.3(SGCG):c.860= (p.Asn287=) rs1800354 0.16253
NM_018136.5(ASPM):c.2174-20T>C rs4915344 0.16253
NM_015046.7(SETX):c.*626C>T rs11795382 0.16247
NM_031885.5(BBS2):c.613-54C>G rs4784675 0.16235
NM_000023.4(SGCA):c.385+167A>G rs11868160 0.16228
NM_015046.7(SETX):c.7100+27A>G rs2296865 0.16223
NM_001267550.2(TTN):c.26408A>G (p.Asn8803Ser) rs12693164 0.16204
NM_001267550.2(TTN):c.25274G>A (p.Ser8425Asn) rs13390491 0.16202
NM_000492.4(CFTR):c.2909-92G>A rs35050470 0.16197
NM_018136.5(ASPM):c.7605G>A (p.Val2535=) rs10922162 0.16179
NM_001142633.3(PIK3R5):c.205-21C>T rs92535 0.16172
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=) rs1799858 0.16150
NM_000092.5(COL4A4):c.1987+91T>C rs7597336 0.16109
NM_022168.4(IFIH1):c.2616+11T>C rs3747518 0.16097
NM_017755.6(NSUN2):c.1749G>A (p.Thr583=) rs13181449 0.16076
NM_006736.6(DNAJB2):c.230-10G>A rs3731897 0.16060
NM_152618.3(BBS12):c.1380G>C (p.Val460=) rs13135766 0.16051
NM_003383.5(VLDLR):c.*551T>C rs8210 0.16040
NM_001079866.2(BCS1L):c.1017T>C (p.Pro339=) rs35843327 0.15996
NM_198428.3(BBS9):c.-407C>G rs3750123 0.15979
NM_198428.3(BBS9):c.263+39A>G rs17169881 0.15964
NM_001813.3(CENPE):c.243T>C (p.Thr81=) rs2290943 0.15958
NM_001384140.1(PCDH15):c.1304A>C (p.Asp435Ala) rs4935502 0.15952
NM_000334.4(SCN4A):c.5478T>G (p.Thr1826=) rs2227906 0.15916
NM_000329.3(RPE65):c.1056G>A (p.Glu352=) rs12145904 0.15903
NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn) rs13135778 0.15902
NM_001267550.2(TTN):c.24431A>C (p.Glu8144Ala) rs16866465 0.15861
NM_003630.3(PEX3):c.*546A>G rs10809 0.15859
NM_152618.3(BBS12):c.1872A>G (p.Gln624=) rs13102440 0.15807
NM_001378615.1(CC2D2A):c.124-6C>T rs1861049 0.15686
NM_000391.4(TPP1):c.1426-78T>C rs1800723 0.15684
NM_018718.3(CEP41):c.*1931C>T rs17133175 0.15684
NM_153700.2(STRC):c.3702G>A (p.Glu1234=) rs62018890 0.15683
NM_032119.4(ADGRV1):c.13599A>G (p.Thr4533=) rs17554631 0.15645
NM_025074.7(FRAS1):c.-23C>T rs34237418 0.15546
NM_001267550.2(TTN):c.102519C>T (p.Gly34173=) rs2857265 0.15539
NM_001267550.2(TTN):c.93243C>T (p.Ala31081=) rs3731748 0.15537
NM_000057.4(BLM):c.3945C>T (p.Leu1315=) rs1063147 0.15526
NM_004700.4(KCNQ4):c.315-18C>T rs13374844 0.15526
NM_000253.3(MTTP):c.-252G>C rs11944749 0.15525
NM_000057.4(BLM):c.3531C>A (p.Ala1177=) rs2227934 0.15517
NM_000083.3(CLCN1):c.301+27T>A rs6948526 0.15429
NM_016356.5(DCDC2):c.1368A>T (p.Lys456Asn) rs9460973 0.15425
NM_000337.6(SGCD):c.*5863C>T rs11953631 0.15411
NM_032119.4(ADGRV1):c.3141A>G (p.Ala1047=) rs950692 0.15398
NM_004525.3(LRP2):c.11601T>C (p.Cys3867=) rs2229268 0.15380
NM_001813.3(CENPE):c.6269C>T (p.Thr2090Met) rs2243682 0.15371
NM_000091.5(COL4A3):c.976G>T (p.Asp326Tyr) rs55703767 0.15364
NM_016239.4(MYO15A):c.5649+14G>A rs2072653 0.15358
NM_004700.4(KCNQ4):c.315-16C>T rs13374845 0.15351
NM_004407.4(DMP1):c.1218C>T (p.Ser406=) rs2615498 0.15334
NM_005708.5(GPC6):c.-320C>A rs17645969 0.15297
NM_001013838.3(CARMIL2):c.1440-8T>C rs9972635 0.15291
NM_001034852.3(SMOC1):c.858-19C>A rs57609901 0.15288
NM_004100.5(EYA4):c.*1867C>T rs17053540 0.15248
NM_004937.3(CTNS):c.461+54G>A rs12938401 0.15247
NM_001034852.3(SMOC1):c.857+32C>T rs34311408 0.15221
NM_001034852.3(SMOC1):c.702C>T (p.Ala234=) rs3825739 0.15211
NM_198428.3(BBS9):c.-12+7T>C rs1468797 0.15207
NM_022124.6(CDH23):c.9077+8G>A rs11818398 0.15161
NM_001017420.3(ESCO2):c.*363C>A rs72609983 0.15160
NM_002796.3(PSMB4):c.701T>C (p.Ile234Thr) rs4603 0.15159
NM_000231.3(SGCG):c.228T>C (p.Asp76=) rs1800350 0.15152
NM_001017420.3(ESCO2):c.*425G>A rs72609984 0.15151
NM_003383.5(VLDLR):c.1187-3C>T rs11789583 0.15129
NM_022124.6(CDH23):c.3009T>C (p.Ser1003=) rs10823829 0.15109
NM_002473.6(MYH9):c.*1314C>T rs2481 0.15103
NM_001130987.2(DYSF):c.1276+11C>T rs35982795 0.15096
NM_001017420.3(ESCO2):c.*471T>A rs201762904 0.15082
NM_000543.5(SMPD1):c.636T>C (p.Asp212=) rs7951904 0.15081
NM_000254.3(MTR):c.3712-8T>C rs12022937 0.15072
NM_000277.3(PAH):c.1155= (p.Leu385=) rs772897 0.15047
NM_206933.4(USH2A):c.13191G>A (p.Glu4397=) rs2009923 0.15011
NM_001145809.2(MYH14):c.91C>A (p.Pro31Thr) rs590722 0.14959
NM_000231.3(SGCG):c.297+63A>C rs4769246 0.14951
NM_013382.7(POMT2):c.*1516A>G rs45518539 0.14946
NM_000023.4(SGCA):c.313-39C>A rs59944537 0.14899
NM_201384.3(PLEC):c.3841-18C>T rs62522552 0.14837
NM_003383.5(VLDLR):c.1312+27G>A rs11793899 0.14831
NM_006846.4(SPINK5):c.1693-32C>T rs2287769 0.14805
NM_004937.3(CTNS):c.504G>A (p.Thr168=) rs1800528 0.14800
NM_001083961.2(WDR62):c.186C>T (p.Leu62=) rs11538454 0.14792
NM_005529.7(HSPG2):c.11992+23G>A rs12023794 0.14776
NM_024596.5(MCPH1):c.1428C>T (p.Phe476=) rs2920676 0.14726
NM_001351132.2(PEX5):c.*141G>A rs3813737 0.14722
NM_005529.7(HSPG2):c.12992G>A (p.Ser4331Asn) rs3736360 0.14722
NM_032119.4(ADGRV1):c.9743G>A (p.Gly3248Asp) rs16869032 0.14695
NM_201384.3(PLEC):c.3757-9A>G rs57461687 0.14687
NM_000352.6(ABCC8):c.2485C>T (p.Leu829=) rs1805036 0.14682
NM_015910.7(WDPCP):c.1916-6C>T rs2421862 0.14640
NM_001384474.1(LOXHD1):c.-102G>A rs34951935 0.14627
NM_022124.6(CDH23):c.5503-10A>G rs2394839 0.14568
NM_182961.4(SYNE1):c.17745C>T (p.His5915=) rs12664753 0.14557
NM_000277.3(PAH):c.-71A>C rs2280615 0.14554
NM_022124.6(CDH23):c.5023G>A (p.Val1675Ile) rs17712523 0.14536
NM_001145809.2(MYH14):c.2827-9A>C rs3745503 0.14515
NM_001267550.2(TTN):c.107681-46T>A rs16866373 0.14513
NM_021628.3(ALOXE3):c.-300C>G rs3027229 0.14510
NM_017755.6(NSUN2):c.2193C>T (p.Asp731=) rs3822434 0.14485
NM_000083.3(CLCN1):c.1401+17T>C rs7794560 0.14458
NM_001077365.2(POMT1):c.1082+16G>A rs59515295 0.14451
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His) rs3731749 0.14445
NM_025074.7(FRAS1):c.10153T>G (p.Tyr3385Asp) rs35933858 0.14412
NM_013382.7(POMT2):c.*587G>A rs10141995 0.14409
NM_025074.7(FRAS1):c.9252G>T (p.Arg3084=) rs11933630 0.14408
NM_001283009.2(RTEL1):c.1636+29C>G rs2777940 0.14402
NM_001130987.2(DYSF):c.396C>T (p.Pro132=) rs34603128 0.14353
NM_025074.7(FRAS1):c.10389+11C>T rs74632598 0.14352
NM_002180.3(IGHMBP2):c.*665C>T rs9769 0.14339
NM_025074.7(FRAS1):c.10683A>T (p.Glu3561Asp) rs931605 0.14336
NM_013382.7(POMT2):c.1654-6A>G rs4540995 0.14330
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292 0.14328
NM_001378454.1(ALMS1):c.*267T>A rs62149804 0.14287
NM_001083961.2(WDR62):c.2271G>A (p.Leu757=) rs61494900 0.14221
NM_080680.3(COL11A2):c.877-34C>T rs116165521 0.14216
NM_000414.4(HSD17B4):c.1531T>C (p.Trp511Arg) rs11539471 0.14167
NM_170784.3(MKKS):c.1549C>T (p.Arg517Cys) rs1547 0.14159
NM_022124.6(CDH23):c.1449+130T>C rs2305209 0.14152
NM_170784.3(MKKS):c.1595G>T (p.Gly532Val) rs1545 0.14147
NM_000302.4(PLOD1):c.358G>T (p.Ala120Ser) rs2273285 0.14145
NM_022124.6(CDH23):c.5411G>A (p.Arg1804Gln) rs3802711 0.14136
NM_170784.3(MKKS):c.*435G>A rs6108549 0.14136
NM_170784.3(MKKS):c.*392T>C rs2294901 0.14121
NM_022336.4(EDAR):c.*935C>T rs3749096 0.14095
NM_012233.3(RAB3GAP1):c.1793A>G (p.Asn598Ser) rs10445686 0.14088
NM_170784.3(MKKS):c.534C>T (p.Ile178=) rs17852625 0.14082
NM_170784.3(MKKS):c.985+16T>G rs6133917 0.14080
NM_207361.6(FREM2):c.5518C>T (p.Arg1840Trp) rs9603422 0.14074
NM_138694.4(PKHD1):c.11786-30C>T rs9395699 0.14058
NM_024301.5(FKRP):c.135C>T (p.Ala45=) rs2287717 0.14031
NM_001083961.2(WDR62):c.3468C>T (p.Leu1156=) rs17851502 0.14024
NM_001083961.2(WDR62):c.1643-10C>T rs4806263 0.14010
NM_138691.3(TMC1):c.-329C>A rs7856724 0.13978
NM_153717.3(EVC):c.*748T>C rs62297707 0.13967
NM_001813.3(CENPE):c.5502G>A (p.Thr1834=) rs1381658 0.13921
NM_003383.5(VLDLR):c.2067A>G (p.Gln689=) rs6148 0.13882
NM_139343.3(BIN1):c.957C>T (p.Ala319=) rs2276579 0.13837
NM_152618.3(BBS12):c.1398C>T (p.Gly466=) rs2292493 0.13826
NM_001378454.1(ALMS1):c.6212T>C (p.Ile2071Thr) rs10496192 0.13807
NM_022124.6(CDH23):c.*204A>G rs2290022 0.13799
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys) rs2076299 0.13777
NM_002161.6(IARS1):c.3544A>G (p.Lys1182Glu) rs556155 0.13769
NM_002855.5(NECTIN1):c.*3301T>C rs11217380 0.13736
NM_130384.3(ATRIP):c.*714T>C rs3135941 0.13734
NM_000091.5(COL4A3):c.1576-60G>A rs73993878 0.13711
NM_001378615.1(CC2D2A):c.2182-24C>T rs2041673 0.13698
NM_002618.4(PEX13):c.*1194G>A rs75205376 0.13689
NM_001143992.2(WRAP53):c.450C>T (p.Phe150=) rs2287498 0.13667
NM_005879.3(TRAIP):c.1362A>C (p.Thr454=) rs35129566 0.13635
NM_153240.5(NPHP3):c.3759G>A (p.Leu1253=) rs6794496 0.13621
NM_025074.7(FRAS1):c.*1814G>A rs17003321 0.13590
NM_016356.5(DCDC2):c.1017C>T (p.Val339=) rs9467075 0.13584
NM_001130987.2(DYSF):c.888+11T>C rs13428076 0.13574
NM_004614.5(TK2):c.619-53A>G rs2241619 0.13547
NM_022124.6(CDH23):c.1290+217T>C rs2305208 0.13525
NM_001374623.1(PNPLA1):c.1595+511A>C rs12214296 0.13494
NM_005529.7(HSPG2):c.10831-4G>A rs17459139 0.13467
NM_001081.4(CUBN):c.4970-22A>C rs74668791 0.13460
NM_018451.5(CENPJ):c.*404C>T rs77868928 0.13457
NM_014363.6(SACS):c.171+6C>T rs3751368 0.13441
NM_005529.7(HSPG2):c.10617C>T (p.Val3539=) rs2229492 0.13438
NM_001378454.1(ALMS1):c.7724G>A (p.Ser2575Asn) rs3820700 0.13432
NM_003193.5(TBCE):c.560+5G>A rs12757197 0.13398
NM_004937.2(CTNS):c.-313G>A rs17707869 0.13396
NM_005529.7(HSPG2):c.11992+35A>G rs12042189 0.13391
NM_001083961.2(WDR62):c.1470C>T (p.Asp490=) rs45567532 0.13368
NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu) rs16866406 0.13367
NM_001081.4(CUBN):c.5803A>G (p.Ser1935Gly) rs41289305 0.13356
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His) rs2288569 0.13356
NM_015160.3(PMPCA):c.90C>T (p.Tyr30=) rs10870144 0.13348
NM_004565.3(PEX14):c.1032G>T (p.Gly344=) rs11539794 0.13336
NM_001382391.1(CSPP1):c.2392-17C>T rs58448590 0.13329
NM_182961.4(SYNE1):c.22671C>T (p.Ile7557=) rs3798756 0.13297
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His) rs3829747 0.13294
NM_001039958.2(MESP2):c.573G>A (p.Gly191=) rs113097169 0.13255
NM_004999.4(MYO6):c.553+11T>C rs12210963 0.13246
NM_004937.3(CTNS):c.*2546G>C rs1128109 0.13235
NM_005219.5(DIAPH1):c.*933T>A rs55798800 0.13233
NM_004937.3(CTNS):c.*2550G>A rs1128098 0.13232
NM_024596.5(MCPH1):c.2045C>A (p.Thr682Asn) rs12674488 0.13225
NM_000211.5(ITGB2):c.328+15G>A rs5030668 0.13213
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys) rs744426 0.13213
NM_139343.3(BIN1):c.-27C>T rs11554586 0.13209
NM_000506.5(F2):c.494C>T (p.Thr165Met) rs5896 0.13207
NM_004999.4(MYO6):c.*459A>G rs1045758 0.13207
NM_001081.4(CUBN):c.9005A>G (p.Glu3002Gly) rs1801240 0.13166
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899 0.13133
NM_003193.5(TBCE):c.*142T>A rs7537 0.13128
NM_052989.3(IFT122):c.740+15G>A rs56379561 0.13063
NM_000070.3(CAPN3):c.1194-26C>G rs3743003 0.13055
NM_206933.4(USH2A):c.4628-63C>T rs7540411 0.13052
NM_153717.3(EVC):c.*210C>A rs16837692 0.13049
NM_153717.3(EVC):c.*1218C>T rs12501119 0.13032
NM_001378454.1(ALMS1):c.8017G>C (p.Asp2673His) rs2017116 0.13007
NM_018389.5(SLC35C1):c.718A>G (p.Ile240Val) rs7130656 0.12992
NM_017875.4(SLC25A38):c.*588T>A rs6890 0.12968
NM_001098484.3(SLC4A4):c.1904-74_1904-73insGGTT rs773069537 0.12949
NM_017433.5(MYO3A):c.3112-4T>C rs16926628 0.12937
NM_002470.4(MYH3):c.349-36A>G rs2285467 0.12931
NM_138694.4(PKHD1):c.1234-10T>A rs4715272 0.12902
NM_001378615.1(CC2D2A):c.2830-38G>T rs35309200 0.12892
NM_001184.4(ATR):c.7274G>A (p.Arg2425Gln) rs2229032 0.12815
NM_001081.4(CUBN):c.6459G>C (p.Leu2153Phe) rs62619939 0.12797
NM_001382391.1(CSPP1):c.2630G>A (p.Arg877His) rs16933182 0.12797
NM_025074.7(FRAS1):c.10877T>C (p.Val3626Ala) rs34670941 0.12788
NM_005529.7(HSPG2):c.9766C>T (p.His3256Tyr) rs2291827 0.12760
NM_001814.6(CTSC):c.458= (p.Ile153=) rs217086 0.12743
NM_025074.7(FRAS1):c.*1301G>A rs3210826 0.12730
NM_005548.3(KARS1):c.1784C>G (p.Thr595Ser) rs6834 0.12646
NM_000492.4(CFTR):c.3140-92T>C rs4148717 0.12640
NM_052989.3(IFT122):c.1654-12C>T rs112066509 0.12634
NM_001127453.2(GSDME):c.*481G>C rs12979 0.12626
NM_153717.3(EVC):c.*3165T>C rs3755847 0.12593
NM_000334.4(SCN4A):c.5403C>T (p.Ala1801=) rs2227907 0.12581
NM_018451.5(CENPJ):c.*639T>C rs61947515 0.12574
NM_206933.4(USH2A):c.11389+9A>T rs12095085 0.12571
NM_006208.3(ENPP1):c.*1350G>A rs9493120 0.12565
NM_000208.4(INSR):c.1932A>C (p.Pro644=) rs2245655 0.12535
NM_148919.4(PSMB8):c.145C>A (p.Gln49Lys) rs2071543 0.12521
NM_000208.4(INSR):c.1862-4A>G rs2245649 0.12510
NM_000208.4(INSR):c.1918C>T (p.Leu640=) rs2963 0.12510
NM_001286445.3(RIPOR2):c.3043+9T>A rs9379693 0.12477
NM_000091.5(COL4A3):c.828+20A>G rs13386404 0.12468
NM_000091.5(COL4A3):c.3419-39C>T rs4675163 0.12458
NM_033056.4(PCDH15):c.4581C>A (p.Pro1527=) rs10825114 0.12444
NM_153676.4(USH1C):c.2490+12G>C rs2072232 0.12422
NM_014956.5(CEP164):c.1935-5C>G rs897837 0.12409
NM_006208.3(ENPP1):c.*563G>A rs1044586 0.12391
NM_000180.4(GUCY2D):c.2576+37G>T rs12103471 0.12387
NM_138387.4(G6PC3):c.381G>A (p.Thr127=) rs3815076 0.12385
NM_000466.3(PEX1):c.-137T>C rs12386601 0.12381
NM_182961.4(SYNE1):c.12276C>T (p.Leu4092=) rs71575926 0.12377
NM_006208.3(ENPP1):c.*1101G>T rs11154647 0.12369
NM_001256317.3(TMPRSS3):c.331G>A (p.Gly111Ser) rs35227181 0.12359
NM_006208.3(ENPP1):c.*1137T>C rs11154648 0.12356
NM_006208.3(ENPP1):c.*777C>T rs34836463 0.12355
NM_006208.3(ENPP1):c.*457T>A rs1044582 0.12353
NM_138694.4(PKHD1):c.*2208A>G rs2784200 0.12333
NM_001081.4(CUBN):c.*134G>A rs780636 0.12332
NM_000070.3(CAPN3):c.633-69G>A rs4924675 0.12331
NM_006208.3(ENPP1):c.*699T>A rs34142005 0.12323
NM_006208.3(ENPP1):c.*112G>A rs1044548 0.12306
NM_022124.6(CDH23):c.7C>T (p.Arg3Cys) rs7902757 0.12266
NM_000211.5(ITGB2):c.742-13G>A rs5030670 0.12263
NM_004525.3(LRP2):c.7626C>G (p.Arg2542=) rs13397109 0.12249
NM_015404.4(WHRN):c.2283C>T (p.Ser761=) rs34963246 0.12235
NM_001194998.2(CEP152):c.-24A>T rs62621137 0.12224
NM_001194998.2(CEP152):c.-25C>A rs185424999 0.12222
NM_001194998.2(CEP152):c.-26A>T rs35871801 0.12222
NM_001386140.1(MTTP):c.522T>C (p.Cys174=) rs982424 0.12209
NM_001077365.2(POMT1):c.699+52C>T rs3887873 0.12205
NM_174878.3(CLRN1):c.57A>T (p.Ala19=) rs3796242 0.12205
NM_153717.3(EVC):c.*2680G>A rs3733187 0.12188
NM_015046.7(SETX):c.1979C>G (p.Ala660Gly) rs882709 0.12168
NM_003839.4(TNFRSF11A):c.*2490A>G rs78459945 0.12123
NM_182548.4(LHFPL5):c.*483T>C rs2766531 0.12099
NM_153717.3(EVC):c.*2871C>T rs3733189 0.12083
NM_152443.3(RDH12):c.482G>A (p.Arg161Gln) rs17852293 0.12044
NM_003839.4(TNFRSF11A):c.*2173A>T rs78326403 0.11998
NM_020964.3(EPG5):c.544A>G (p.Lys182Glu) rs59422275 0.11994
NM_000271.4(NPC1):c.-238C>G rs8099071 0.11990
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
NM_001013838.3(CARMIL2):c.688-32C>T rs59376497 0.11931
NM_001194998.2(CEP152):c.-94A>G rs2304546 0.11928
NM_000208.4(INSR):c.783C>T (p.Asp261=) rs891087 0.11869
NM_002635.4(SLC25A3):c.*211T>A rs76488843 0.11857
NM_000260.4(MYO7A):c.736-47C>A rs3737454 0.11805
NM_001130987.2(DYSF):c.760-17C>T rs61104194 0.11792
NM_000288.4(PEX7):c.-56C>T rs73777751 0.11791
NM_015102.5(NPHP4):c.2643G>A (p.Ala881=) rs3747990 0.11763
NM_013335.4(GMPPA):c.1053C>G (p.Ala351=) rs1046474 0.11761
NM_025074.7(FRAS1):c.1617A>G (p.Arg539=) rs345528 0.11760
NM_001077365.2(POMT1):c.699+53= rs2296949 0.11752
NM_015102.5(NPHP4):c.2485+38C>T rs41280814 0.11752
NM_018389.5(SLC35C1):c.-632G>A rs77254044 0.11737
NM_015102.5(NPHP4):c.1926G>A (p.Glu642=) rs12120967 0.11732
NM_001077365.2(POMT1):c.1047= (p.Asp349=) rs3739494 0.11727
NM_001077365.2(POMT1):c.876= (p.Thr292=) rs10901065 0.11723
NM_002335.4(LRP5):c.1015+15C>T rs201268200 0.11677
NM_001077365.2(POMT1):c.*421G>A rs10257 0.11588
NM_001267550.2(TTN):c.92131G>A (p.Val30711Met) rs747122 0.11550
NM_025132.4(WDR19):c.852A>G (p.Ser284=) rs17584431 0.11533
NM_001692.4(ATP6V1B1):c.27T>C (p.Pro9=) rs17853498 0.11527
NM_001692.4(ATP6V1B1):c.-34C>T rs79652147 0.11515
NM_032119.4(ADGRV1):c.18741G>A (p.Gly6247=) rs13158963 0.11513
NM_013382.7(POMT2):c.1117-20C>T rs7153929 0.11460
NM_000180.4(GUCY2D):c.2109G>A (p.Ala703=) rs56130505 0.11446
NM_018451.5(CENPJ):c.*398A>G rs11620289 0.11436
NM_013382.7(POMT2):c.*1748C>A rs45458096 0.11420
NM_018718.3(CEP41):c.*3887C>G rs62471754 0.11370
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys) rs2742347 0.11354
NM_182961.4(SYNE1):c.24502G>T (p.Ala8168Ser) rs17082236 0.11250
NM_147127.5(EVC2):c.2061T>C (p.Arg687=) rs73198153 0.11242
NM_020631.6(PLEKHG5):c.1801-12C>A rs943584 0.11198
NM_017755.6(NSUN2):c.*99G>A rs3776448 0.11157
NM_147127.5(EVC2):c.519+15G>A rs17688121 0.11080
NM_020661.4(AICDA):c.*309T>C rs12307097 0.11052
NM_024753.5(TTC21B):c.*878A>G rs62177807 0.11039
NM_022124.6(CDH23):c.8895C>T (p.Pro2965=) rs11000009 0.10990
NM_000317.3(PTS):c.163+14T>C rs3819331 0.10984
NM_031471.6(FERMT3):c.161-16C>G rs78038516 0.10980
NM_001367624.2(ZNF469):c.6462G>A (p.Pro2154=) rs61472141 0.10977
NM_006208.3(ENPP1):c.*163C>T rs1044558 0.10959
NM_006208.3(ENPP1):c.*389G>A rs553 0.10942
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=) rs4784320 0.10935
NM_005422.4(TECTA):c.5634C>T (p.Ser1878=) rs2155369 0.10906
NM_024685.4(BBS10):c.*769G>C rs73383520 0.10902
NM_153717.3(EVC):c.802-15del rs369153323 0.10885
NM_000320.3(QDPR):c.*403A>G rs1049600 0.10881
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser) rs2111119 0.10881
NM_000320.3(QDPR):c.*408C>T rs1049601 0.10880
NM_022124.6(CDH23):c.9319+11G>A rs11000013 0.10868
NM_000231.3(SGCG):c.386-30A>G rs66844808 0.10864
NM_001127671.2(LIFR):c.*586A>T rs2561819 0.10855
NM_001127649.3(PEX26):c.*1590G>A rs5992169 0.10823
NM_001127649.3(PEX26):c.*1669C>G rs112015789 0.10796
NM_001127649.3(PEX26):c.*917C>T rs9605518 0.10773
NM_153676.4(USH1C):c.2381-46G>A rs2072233 0.10738
NM_198428.3(BBS9):c.-259G>A rs73095326 0.10731
NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val) rs3736228 0.10701
NM_024596.5(MCPH1):c.911G>T (p.Arg304Ile) rs2083914 0.10697
NM_014918.5(CHSY1):c.2114G>A (p.Arg705Gln) rs62621399 0.10677
NM_000180.4(GUCY2D):c.741C>T (p.His247=) rs3829789 0.10665
NM_001160372.4(TRAPPC9):c.2431+7G>A rs11166964 0.10663
NM_001386140.1(MTTP):c.969T>C (p.Ala323=) rs17533489 0.10642
NM_020964.3(EPG5):c.7558-11G>A rs57761448 0.10601
NM_207361.6(FREM2):c.6458C>G (p.Thr2153Ser) rs9548506 0.10599
NM_207361.6(FREM2):c.6459T>C (p.Thr2153=) rs9548507 0.10596
NM_000208.4(INSR):c.*2854G>T rs1864193 0.10584
NM_012210.4(TRIM32):c.1254G>A (p.Val418=) rs1661300 0.10569
NM_018319.4(TDP1):c.400G>A (p.Ala134Thr) rs28365054 0.10566
NM_003383.5(VLDLR):c.*180G>A rs3421 0.10555
NM_001254.4(CDC6):c.438T>C (p.Cys146=) rs1130199 0.10516
NM_005529.7(HSPG2):c.8983A>G (p.Ser2995Gly) rs2229491 0.10503
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val) rs3743601 0.10494
NM_005708.5(GPC6):c.*4656T>A rs9561553 0.10464
NM_000208.4(INSR):c.*4422G>T rs12642 0.10462
NM_000208.4(INSR):c.*2010G>A rs55972112 0.10448
NM_005708.5(GPC6):c.*2031A>C rs45618731 0.10401
NM_005876.5(SPEG):c.8059C>A (p.Pro2687Thr) rs13026308 0.10397
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys) rs16866538 0.10360
NM_182961.4(SYNE1):c.26221C>A (p.Leu8741Met) rs2295190 0.10350
NM_005529.7(HSPG2):c.10895G>A (p.Arg3632Gln) rs2229493 0.10303
NM_005529.7(HSPG2):c.11082C>T (p.Pro3694=) rs2229486 0.10296
NM_006846.4(SPINK5):c.2475G>T (p.Glu825Asp) rs2303070 0.10250
NM_005529.7(HSPG2):c.10260C>T (p.His3420=) rs35444472 0.10248
NM_000557.5(GDF5):c.1017= (p.Lys339=) rs224330 0.10244
NM_173551.5(ANKS6):c.330C>T (p.Tyr110=) rs76903503 0.10234
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln) rs1805084 0.10225
NM_032575.3(GLIS2):c.*614G>A rs653539 0.10219
NM_022168.4(IFIH1):c.2469C>T (p.Ala823=) rs13418718 0.10215
NM_002860.4(ALDH18A1):c.896C>T (p.Thr299Ile) rs2275272 0.10214
NM_020779.4(WDR35):c.3121+12A>C rs28502265 0.10214
NM_020779.4(WDR35):c.*1050T>C rs10197890 0.10201
NM_005529.7(HSPG2):c.11340T>C (p.Asn3780=) rs2229488 0.10195
NM_006736.6(DNAJB2):c.446-8G>A rs3821039 0.10187
NM_139343.3(BIN1):c.775-4G>A rs61748157 0.10181
NM_020631.6(PLEKHG5):c.2163G>A (p.Glu721=) rs62639695 0.10172
NM_000091.5(COL4A3):c.987+35T>G rs10933172 0.10155
NM_020779.4(WDR35):c.*98T>C rs6748924 0.10155
NM_017721.5(CC2D1A):c.2716G>A (p.Ala906Thr) rs11669628 0.10133
NM_052989.3(IFT122):c.1147+19C>T rs2301570 0.10129
NM_000124.4(ERCC6):c.2382+33T>C rs3750749 0.10128
NM_001048166.1(STIL):c.*316T>C rs11211488 0.10123
NM_206933.4(USH2A):c.4994T>C (p.Ile1665Thr) rs56222536 0.10108
NM_001017420.3(ESCO2):c.239C>T (p.Ala80Val) rs4732748 0.10090
NM_020921.4(NIN):c.5800C>G (p.Gln1934Glu) rs2295847 0.10087
NM_000091.5(COL4A3):c.468+139C>T rs12612699 0.10086
NM_018451.5(CENPJ):c.2635T>G (p.Ser879Ala) rs17402892 0.10073
NM_001127649.3(PEX26):c.-318A>G rs62239019 0.10068
NM_001283009.2(RTEL1):c.3499+5G>T rs41309931 0.10067
NM_018451.5(CENPJ):c.253C>A (p.Pro85Thr) rs9511510 0.10060
NG_016465.4:g.18346T>G rs4148682 0.10044
NM_005529.7(HSPG2):c.9502G>A (p.Ala3168Thr) rs2228349 0.10008
NM_000288.4(PEX7):c.340-103A>G rs2295592 0.10001
NM_012205.3(HAAO):c.630+34C>T rs13413507 0.09999
NM_153717.3(EVC):c.249A>G (p.Ser83=) rs35870680 0.09998
NM_000231.3(SGCG):c.347G>A (p.Arg116His) rs17314986 0.09986
NM_016122.3(CEP83):c.1212A>G (p.Arg404=) rs12426243 0.09976
NM_001267550.2(TTN):c.36655T>G (p.Leu12219Val) rs12994774 0.09975
NM_001146262.4(SYT14):c.1419T>C (p.Tyr473=) rs17188183 0.09972
NM_213599.3(ANO5):c.*1521T>C rs73483433 0.09970
NM_001130987.2(DYSF):c.951+4T>C rs11903960 0.09951
NM_001267550.2(TTN):c.9597A>G (p.Glu3199=) rs2291312 0.09947
NM_020632.3(ATP6V0A4):c.*162C>T rs55832008 0.09943
NM_000124.4(ERCC6):c.*1830T>C rs11101137 0.09932
NM_014918.5(CHSY1):c.1075C>T (p.Pro359Ser) rs3743193 0.09931
NM_015028.4(TNIK):c.2682C>T (p.Ser894=) rs16855789 0.09929
NM_000124.4(ERCC6):c.*3823T>C rs73297748 0.09918
NM_006846.4(SPINK5):c.*330T>C rs72660265 0.09913
NM_000124.4(ERCC6):c.*53T>C rs4253231 0.09905
NM_000337.6(SGCD):c.*4092A>G rs56389540 0.09897
NM_000124.4(ERCC6):c.411G>A (p.Leu137=) rs4253013 0.09896
NM_000180.4(GUCY2D):c.61T>C (p.Trp21Arg) rs9905402 0.09880
NM_153676.4(USH1C):c.37-47G>T rs2355022 0.09867
NM_006208.3(ENPP1):c.*3271C>G rs1510 0.09857
NM_000553.6(WRN):c.-213G>A rs11574158 0.09853
NM_153676.4(USH1C):c.2226+197G>A rs12270644 0.09831
NM_001267550.2(TTN):c.68217T>C (p.His22739=) rs10497517 0.09829
NM_000492.4(CFTR):c.1210-13G>T rs10229820 0.09791
NM_021942.6(TRAPPC11):c.2799G>C (p.Gln933His) rs62617790 0.09786
NM_213599.3(ANO5):c.*1313A>G rs73483432 0.09785
NM_206933.4(USH2A):c.6957+19A>G rs6689120 0.09761
NM_012463.4(ATP6V0A2):c.*3553G>A rs73420351 0.09739
NM_153676.4(USH1C):c.521+56A>G rs41282940 0.09720
NM_152618.3(BBS12):c.1200G>A (p.Val400=) rs309371 0.09713
NM_005708.5(GPC6):c.1248G>A (p.Thr416=) rs2274020 0.09700
NM_201384.3(PLEC):c.9777T>A (p.Ser3259=) rs34644439 0.09690
NM_022168.4(IFIH1):c.1379A>G (p.His460Arg) rs10930046 0.09666
NM_022095.4(ZNF335):c.3384T>C (p.Pro1128=) rs3746503 0.09613
NM_022095.4(ZNF335):c.1355+13G>A rs3746511 0.09610
NM_006005.3(WFS1):c.*253G>A rs1046322 0.09607
NM_182961.4(SYNE1):c.8177+9C>T rs56877632 0.09596
NM_001384474.1(LOXHD1):c.2473G>A (p.Val825Met) rs36086089 0.09592
NM_001384140.1(PCDH15):c.157+3A>G rs41274636 0.09581
NM_014028.4(OSTM1):c.*2283T>C rs112283202 0.09569
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496 0.09551
NM_000557.5(GDF5):c.*335A>C rs73611720 0.09512
NM_001367624.2(ZNF469):c.1489G>A (p.Gly497Arg) rs28723506 0.09509
NM_020458.4(TTC7A):c.2034G>A (p.Ser678=) rs3739100 0.09488
NM_000260.4(MYO7A):c.1004-35C>G rs2071151 0.09483
NM_001127649.3(PEX26):c.*1635G>C rs361703 0.09478
NM_001367624.2(ZNF469):c.6470G>A (p.Arg2157Lys) rs13334190 0.09442
NM_182961.4(SYNE1):c.17202+24G>A rs12662994 0.09437
NM_025103.4(IFT74):c.1790C>T (p.Thr597Ile) rs3429 0.09433
NM_006118.4(HAX1):c.159T>C (p.Ser53=) rs13796 0.09423
NM_017433.5(MYO3A):c.480G>T (p.Thr160=) rs12257119 0.09365
NM_015404.4(WHRN):c.1684C>G (p.Pro562Ala) rs12339210 0.09351
NM_015046.7(SETX):c.*2262A>G rs997784 0.09345
NM_025103.4(IFT74):c.254A>G (p.Lys85Arg) rs11555693 0.09345
NM_138694.4(PKHD1):c.214C>T (p.Leu72=) rs6901799 0.09338
NM_015046.7(SETX):c.6935+8T>C rs17148873 0.09319
NM_031471.6(FERMT3):c.1449G>A (p.Pro483=) rs3802932 0.09305
NM_000082.4(ERCC8):c.*439G>T rs4647155 0.09291
NM_014028.4(OSTM1):c.*2344C>G rs113263335 0.09290
NM_001267550.2(TTN):c.7545C>T (p.Tyr2515=) rs2291306 0.09235
NM_001023570.4(IQCB1):c.1178T>A (p.Ile393Asn) rs1141528 0.09226
NM_001384140.1(PCDH15):c.157+59097T>C rs75443986 0.09222
NM_000414.4(HSD17B4):c.2122-34C>T rs28943593 0.09221
NM_004525.3(LRP2):c.2376T>C (p.Asp792=) rs33954745 0.09210
NM_001384474.1(LOXHD1):c.2175C>T (p.Asn725=) rs2086005 0.09206
NM_020632.3(ATP6V0A4):c.1739T>C (p.Met580Thr) rs3807153 0.09195
NM_000211.5(ITGB2):c.58+12G>A rs2280965 0.09186
NM_014780.5(CUL7):c.-168C>T rs3737186 0.09184
NM_207361.6(FREM2):c.*992T>C rs9532297 0.09184
NM_001081.4(CUBN):c.3522C>T (p.Gly1174=) rs1873469 0.09173
NM_207361.6(FREM2):c.*5335A>G rs9548524 0.09168
NM_001814.6(CTSC):c.-18T>C rs11019400 0.09158
NM_001267550.2(TTN):c.75522A>C (p.Ala25174=) rs6732060 0.09129
NM_153717.3(EVC):c.618-121G>A rs75063475 0.09118
NM_020631.5(PLEKHG5):c.*1304G>A rs45604837 0.09117
NM_001099287.2(NIPAL4):c.1172C>T (p.Ser391Leu) rs61743233 0.09106
NM_001145809.2(MYH14):c.1483-10G>A rs73061136 0.09105
NM_004560.4(ROR2):c.498T>C (p.Asp166=) rs16907720 0.09084
NM_002292.4(LAMB2):c.2959G>A (p.Glu987Lys) rs34759087 0.09080
NM_002292.4(LAMB2):c.3387A>G (p.Gln1129=) rs34290943 0.09068
NM_153676.4(USH1C):c.1086-12G>A rs11024318 0.09048
NM_002160.4(TNC):c.4575G>A (p.Thr1525=) rs17819466 0.09039
NM_020661.4(AICDA):c.*1028C>T rs7304723 0.09017
NM_001267550.2(TTN):c.24516C>T (p.Thr8172=) rs72648978 0.08958
NM_174878.3(CLRN1):c.*884A>C rs12635299 0.08952
NM_001171.6(ABCC6):c.2835C>T (p.Pro945=) rs2856585 0.08929
NM_000023.4(SGCA):c.933C>T (p.Val311=) rs1801191 0.08920
NM_014028.4(OSTM1):c.*2329G>T rs112792700 0.08905
NM_025074.7(FRAS1):c.-65T>C rs6832285 0.08887
NM_138691.3(TMC1):c.1713C>T (p.Phe571=) rs34532421 0.08866
NM_022336.4(EDAR):c.*757T>C rs3749097 0.08815
NM_014053.4(FLVCR1):c.*1940G>A rs6697126 0.08778
NM_000271.5(NPC1):c.-22A>C rs2303880 0.08768
NM_000391.4(TPP1):c.687+32T>C rs1800710 0.08743
NM_000782.5(CYP24A1):c.744G>A (p.Thr248=) rs6068816 0.08737
NM_004525.3(LRP2):c.8453-11T>C rs11898106 0.08732
NM_001386140.1(MTTP):c.294G>C (p.Glu98Asp) rs2306986 0.08726
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021 0.08719
NM_000553.5(WRN):c.-618C>G rs7017069 0.08717
NM_016038.4(SBDS):c.201A>G (p.Lys67=) rs1061695 0.08712
NM_001283009.2(RTEL1):c.582T>C (p.Ile194=) rs73920935 0.08708
NM_025074.7(FRAS1):c.*1995G>T rs72873318 0.08697
NM_000337.6(SGCD):c.*3650G>T rs72803044 0.08674
NM_006208.3(ENPP1):c.*4636C>T rs11963615 0.08655
NM_201384.3(PLEC):c.3261-13G>A rs11991798 0.08644
NM_000334.4(SCN4A):c.*563G>A rs2532112 0.08626
NM_201384.3(PLEC):c.12561C>T (p.Asp4187=) rs11998271 0.08588
NM_002617.4(PEX10):c.913-4G>A rs11586985 0.08566
NM_003384.3(VRK1):c.1159+43C>G rs45457797 0.08564
NM_014363.6(SACS):c.696T>A (p.Asn232Lys) rs2031640 0.08558
NM_017433.5(MYO3A):c.-15T>A rs11014875 0.08552
NM_017433.5(MYO3A):c.-18G>A rs10128298 0.08551
NM_033028.5(BBS4):c.1451-45T>C rs75847960 0.08550
NM_014363.6(SACS):c.1656A>G (p.Leu552=) rs1536365 0.08543
NM_017791.3(FLVCR2):c.-71C>T rs11849590 0.08526
NM_153717.3(EVC):c.384+41C>T rs113870218 0.08516
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) rs79893125 0.08466
NM_017777.4(MKS1):c.*75C>T rs35184412 0.08455
NM_000208.4(INSR):c.2595C>T (p.Asn865=) rs2229431 0.08453
NM_014053.4(FLVCR1):c.*353A>G rs6679775 0.08452
NM_021942.6(TRAPPC11):c.1978G>C (p.Val660Leu) rs67383011 0.08451
NM_147127.5(EVC2):c.2235A>G (p.Glu745=) rs60121553 0.08440
NM_000554.5(CRX):c.-116T>C rs10418215 0.08435
NM_001256317.3(TMPRSS3):c.157G>A (p.Val53Ile) rs928302 0.08425
NM_000426.4(LAMA2):c.156C>T (p.Ile52=) rs1140366 0.08370
NM_001145026.2(PTPRQ):c.5943-6T>C rs1528289 0.08370
NM_000208.4(INSR):c.2007C>T (p.Phe669=) rs2962 0.08356
NM_001267550.2(TTN):c.29153T>C (p.Ile9718Thr) rs4893852 0.08349
NM_014797.3(ZBTB24):c.1552G>A (p.Ala518Thr) rs2232448 0.08337
NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly) rs3739927 0.08329
NM_001081.4(CUBN):c.7662A>G (p.Pro2554=) rs3740165 0.08317
NM_001386140.1(MTTP):c.497A>G (p.Asn166Ser) rs3792683 0.08314
NM_001077418.3(TMEM231):c.813G>A (p.Val271=) rs2242406 0.08287
NM_001386140.1(MTTP):c.*183C>T rs74542928 0.08278
NM_001386140.1(MTTP):c.*862C>A rs6832927 0.08274
NM_001386140.1(MTTP):c.*506A>G rs6832119 0.08272
NM_022124.6(CDH23):c.-1C>T rs41281302 0.08269
NM_017777.4(MKS1):c.1024+128C>T rs72839966 0.08242
NM_017777.4(MKS1):c.*414C>T rs2302313 0.08215
NM_006005.3(WFS1):c.*274A>G rs1046325 0.08190
NM_001267550.2(TTN):c.96158T>C (p.Ile32053Thr) rs62621236 0.08189
NM_000231.3(SGCG):c.505+83G>T rs17374896 0.08156
NM_001367624.2(ZNF469):c.*46C>A rs78600508 0.08121
NM_000057.4(BLM):c.3961G>A (p.Val1321Ile) rs7167216 0.08093
NM_001374623.1(PNPLA1):c.1595+653G>A rs4713957 0.08088
NM_001081.4(CUBN):c.2188C>T (p.His730Tyr) rs7905349 0.08051
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg) rs11677877 0.08050
NM_021830.5(TWNK):c.*521C>G rs11542131 0.08029
NM_017433.5(MYO3A):c.624C>T (p.Asp208=) rs35010955 0.08016
NM_001173990.3(TMEM216):c.-2G>T rs7107543 0.08005
NM_001044385.3(TMEM237):c.1096G>T (p.Ala366Ser) rs73989521 0.07946
NM_020779.4(WDR35):c.*2463C>T rs3731661 0.07941
NM_022124.6(CDH23):c.7225-22C>T rs3802708 0.07941
NM_153717.3(EVC):c.221A>C (p.Gln74Pro) rs2291157 0.07908
NM_001351132.2(PEX5):c.-17+290T>A rs113752912 0.07875
NM_020458.4(TTC7A):c.300C>T (p.Ser100=) rs61738825 0.07874
NM_001127453.2(GSDME):c.619G>A (p.Val207Met) rs12540919 0.07873
NM_000553.6(WRN):c.1577-3C>A rs3087409 0.07869
NM_001374623.1(PNPLA1):c.863A>G (p.Glu288Gly) rs34598813 0.07866
NM_001267550.2(TTN):c.26681C>T (p.Pro8894Leu) rs13398235 0.07839
NM_001267550.2(TTN):c.106275G>C (p.Gly35425=) rs56207956 0.07828
NM_022124.6(CDH23):c.*510G>A rs1054635 0.07812
NM_003839.4(TNFRSF11A):c.*2537G>A rs72933641 0.07811
NM_000466.3(PEX1):c.1804-28G>A rs10236856 0.07802
NM_000124.4(ERCC6):c.*933G>A rs3750751 0.07801
NM_000466.3(PEX1):c.-53C>G rs12386703 0.07798
NM_000553.6(WRN):c.340G>A (p.Val114Ile) rs2230009 0.07797
NM_018389.5(SLC35C1):c.*1580C>T rs10838518 0.07780
NM_006892.4(DNMT3B):c.*443C>T rs6058896 0.07771
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=) rs1861050 0.07770
NM_001267550.2(TTN):c.25921+10C>T rs10183237 0.07769
NM_201384.3(PLEC):c.9073G>A (p.Val3025Ile) rs35027700 0.07759
NM_000211.5(ITGB2):c.147+16A>G rs34580582 0.07739
NM_182548.4(LHFPL5):c.*345G>A rs2766530 0.07731
NM_206933.4(USH2A):c.7506G>A (p.Pro2502=) rs12404427 0.07727
NM_138694.4(PKHD1):c.2046A>C (p.Pro682=) rs4715271 0.07716
NM_001395413.1(POR):c.6A>G (p.Gly2=) rs10262966 0.07713
NM_001081.4(CUBN):c.8950A>G (p.Ile2984Val) rs1801239 0.07706
NM_006005.3(WFS1):c.*90G>A rs1802453 0.07690
NM_000782.5(CYP24A1):c.990+9G>A rs6022993 0.07682
NM_006208.3(ENPP1):c.2661A>G (p.Ala887=) rs1804025 0.07647
NM_001184.4(ATR):c.5460T>C (p.Tyr1820=) rs2227932 0.07623
NM_031885.5(BBS2):c.-40T>C rs115078074 0.07623
NM_031885.5(BBS2):c.-42T>G rs78076550 0.07623
NM_207361.6(FREM2):c.2250C>T (p.Asp750=) rs41292755 0.07615
NM_004700.4(KCNQ4):c.873G>A (p.Pro291=) rs12117176 0.07614
NM_000092.5(COL4A4):c.2969-50A>G rs2272205 0.07602
NM_004700.4(KCNQ4):c.879A>G (p.Thr293=) rs12143503 0.07598
NM_201384.3(PLEC):c.8820C>G (p.Asp2940Glu) rs58308209 0.07595
NM_005529.7(HSPG2):c.3557G>A (p.Arg1186Gln) rs2229481 0.07593
NM_000492.4(CFTR):c.869+11C>T rs1800503 0.07590
NM_004766.3(COPB2):c.2626-20C>A rs2307031 0.07557
NM_001080476.3(GRXCR1):c.140C>T (p.Ala47Val) rs57655409 0.07551
NM_001099287.2(NIPAL4):c.*1647T>C rs11749762 0.07540
NM_021942.6(TRAPPC11):c.2434A>C (p.Thr812Pro) rs62358032 0.07525
NM_207361.6(FREM2):c.*1041C>T rs9548521 0.07524
NM_005529.7(HSPG2):c.3688G>A (p.Gly1230Ser) rs28546127 0.07520
NM_015046.7(SETX):c.3147C>T (p.His1049=) rs3739921 0.07515
NM_001386140.1(MTTP):c.39C>G (p.Ser13=) rs7667001 0.07507
NM_052989.3(IFT122):c.2060G>A (p.Arg687Gln) rs61740161 0.07498
NM_147196.3(TMIE):c.*975G>A rs4683315 0.07485
NM_022124.6(CDH23):c.1053C>T (p.Ser351=) rs7903475 0.07481
NM_206933.4(USH2A):c.11390-53C>T rs6540907 0.07479
NM_004004.6(GJB2):c.-22-12C>T rs9578260 0.07478
NM_000091.5(COL4A3):c.1452G>A (p.Gly484=) rs34019152 0.07474
NM_003332.4(TYROBP):c.*25A>C rs1802029 0.07474
NM_002109.6(HARS1):c.588C>T (p.Cys196=) rs2230361 0.07468
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=) rs1800130 0.07467
NM_020779.4(WDR35):c.53A>G (p.Gln18Arg) rs1060742 0.07465
NM_001145809.2(MYH14):c.1755C>T (p.Gly585=) rs61731838 0.07411
NM_147127.5(EVC2):c.1711-20T>G rs58869180 0.07408
NM_000260.4(MYO7A):c.*504C>T rs34765389 0.07374
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala) rs17029215 0.07361
NM_001386140.1(MTTP):c.933C>A (p.Thr311=) rs17029213 0.07360
NM_000207.3(INS):c.-18+4_-18+5insTTGC rs3842740 0.07357
NM_001386140.1(MTTP):c.1769+9C>T rs34734558 0.07357
NM_001384140.1(PCDH15):c.2752-75C>G rs2253647 0.07354
NM_022336.4(EDAR):c.357-4G>A rs748225 0.07354
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695 0.07353
NM_000123.4(ERCC5):c.-72C>T rs2296148 0.07351
NM_001127453.2(GSDME):c.*527C>T rs6957782 0.07350
NM_201384.3(PLEC):c.3378G>A (p.Glu1126=) rs11991764 0.07344
NM_016373.4(WWOX):c.844C>G (p.Pro282Ala) rs3764340 0.07330
NM_003839.4(TNFRSF11A):c.*1810G>C rs72933640 0.07294
NM_014028.4(OSTM1):c.*2755A>G rs6921341 0.07269
NM_002473.6(MYH9):c.4899G>A (p.Arg1633=) rs5756130 0.07263
NM_001384140.1(PCDH15):c.1591-68G>A rs41274632 0.07262
NM_001379180.1(ESRRB):c.144C>A (p.Ile48=) rs35544003 0.07261
NM_000091.5(COL4A3):c.888+30G>A rs35467545 0.07260
NM_002855.5(NECTIN1):c.*2857A>C rs7944707 0.07251
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_000245.4(MET):c.534C>T (p.Ser178=) rs35775721 0.07211
NM_001083961.2(WDR62):c.1643-39G>A rs2301735 0.07203
NM_001081.4(CUBN):c.5518G>A (p.Gly1840Ser) rs2271462 0.07196
NM_001814.5(CTSC):c.-74T>C rs11600158 0.07163
NM_024596.5(MCPH1):c.863C>A (p.Pro288His) rs35590577 0.07163
NM_001267550.2(TTN):c.42783A>G (p.Lys14261=) rs16866425 0.07162
NM_001081.4(CUBN):c.5134C>T (p.Leu1712=) rs2271468 0.07161
NM_000782.5(CYP24A1):c.*872C>T rs11907350 0.07142
NM_001267550.2(TTN):c.42958A>G (p.Lys14320Glu) rs6723526 0.07129
NM_024009.3(GJB3):c.357C>T (p.Asn119=) rs41310442 0.07121
NM_001127453.2(GSDME):c.*273C>T rs17149888 0.07118
NM_002485.5(NBN):c.*1961T>C rs13312987 0.07113
NM_147127.5(EVC2):c.-15G>A rs76269601 0.07112
NM_002485.5(NBN):c.*757A>G rs13312981 0.07109
NM_201384.3(PLEC):c.10920C>T (p.Tyr3640=) rs28455570 0.07092
NM_001194998.2(CEP152):c.691+9C>T rs77732888 0.07084
NM_015046.7(SETX):c.6546+32T>A rs2296873 0.07069
NM_001384474.1(LOXHD1):c.5399+13G>A rs59128481 0.07068
NM_182961.4(SYNE1):c.12363G>T (p.Lys4121Asn) rs28385621 0.07062
NM_020631.6(PLEKHG5):c.43+13G>A rs78593902 0.07001
NM_001384474.1(LOXHD1):c.4740+21G>A rs12604163 0.06997
NM_001384474.1(LOXHD1):c.4868A>G (p.Glu1623Gly) rs12606417 0.06993
NM_000334.4(SCN4A):c.*1737A>G rs16947276 0.06978
NM_004415.4(DSP):c.126T>C (p.Tyr42=) rs36087964 0.06956
NM_005866.4(SIGMAR1):c.552C>T (p.Phe184=) rs61739588 0.06946
NM_006397.3(RNASEH2A):c.33A>G (p.Thr11=) rs11554400 0.06936
NM_001098484.3(SLC4A4):c.*1377G>C rs3775157 0.06925
NM_006397.3(RNASEH2A):c.605T>C (p.Leu202Ser) rs7247284 0.06918
NM_006397.3(RNASEH2A):c.550-11T>C rs7247253 0.06913
NM_000091.5(COL4A3):c.1223G>A (p.Arg408His) rs34505188 0.06909
NM_006397.3(RNASEH2A):c.462G>A (p.Gln154=) rs7257575 0.06903
NM_012414.4(RAB3GAP2):c.*404T>C rs1059140 0.06883
NM_012414.4(RAB3GAP2):c.3495G>A (p.Leu1165=) rs11547779 0.06867
NM_021252.5(RAB18):c.*2375A>G rs2477317 0.06862
NM_147127.5(EVC2):c.2046+5A>G rs6850875 0.06860
NM_012414.4(RAB3GAP2):c.3275G>C (p.Ser1092Thr) rs2289189 0.06844
NM_033028.5(BBS4):c.-17C>T rs56368716 0.06844
NM_032119.4(ADGRV1):c.8730+10_8730+11insC rs377585302 0.06843
NM_001171.6(ABCC6):c.793A>G (p.Arg265Gly) rs72657698 0.06836
NM_006005.3(WFS1):c.2322G>A (p.Lys774=) rs2230721 0.06809
NM_004004.6(GJB2):c.*111C>T rs7329857 0.06802
NM_004004.6(GJB2):c.*104A>T rs7337074 0.06800
NM_017433.5(MYO3A):c.660C>T (p.Ala220=) rs34067308 0.06790
NM_001081.4(CUBN):c.10295C>G (p.Thr3432Ser) rs7898873 0.06787
NM_017433.5(MYO3A):c.586-28A>G rs41314631 0.06787
NM_001367624.2(ZNF469):c.7508C>A (p.Ala2503Glu) rs141218390 0.06780
NM_017433.5(MYO3A):c.731+20G>A rs56210104 0.06778
NM_032119.4(ADGRV1):c.5780C>T (p.Thr1927Met) rs17544552 0.06764
NM_203486.3(DLL3):c.425T>A (p.Leu142Gln) rs55741253 0.06752
NM_017433.5(MYO3A):c.586-29C>T rs56077277 0.06743
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06742
NM_001127671.2(LIFR):c.*4854A>G rs35853268 0.06740
NM_000123.4(ERCC5):c.264+7G>A rs2020915 0.06728
NM_016122.3(CEP83):c.626G>A (p.Arg209Gln) rs2271979 0.06722
NM_152618.3(BBS12):c.51A>G (p.Gln17=) rs17006077 0.06714
NM_000352.6(ABCC8):c.330C>T (p.Ala110=) rs8192695 0.06691
NM_015046.7(SETX):c.*1365G>T rs7875801 0.06684
NM_000506.5(F2):c.1233G>A (p.Pro411=) rs5898 0.06671
NM_017777.4(MKS1):c.191-44G>A rs73329636 0.06658
NM_182961.4(SYNE1):c.3306C>T (p.His1102=) rs17082701 0.06632
NM_000211.5(ITGB2):c.148-16G>T rs2072703 0.06628
NM_000124.4(ERCC6):c.*1964_*1966del rs147228327 0.06626
NM_001267550.2(TTN):c.29763T>C (p.Ile9921=) rs2742343 0.06625
NM_000553.5(WRN):c.-278G>C rs11574157 0.06618
NM_032856.5(WDR73):c.1001A>G (p.Asp334Gly) rs72750868 0.06616
NM_138694.4(PKHD1):c.10521C>T (p.His3507=) rs34460237 0.06613
NM_000320.3(QDPR):c.345G>A (p.Ser115=) rs3733570 0.06567
NM_182961.4(SYNE1):c.14061G>C (p.Leu4687=) rs3734365 0.06565
NM_018319.4(TDP1):c.-21C>T rs34348197 0.06559
NM_000162.5(GCK):c.-84C>G rs13306391 0.06548
NM_001145026.2(PTPRQ):c.6115+23_6115+24dup rs10652830 0.06545
NM_153717.3(EVC):c.*2009T>C rs79152885 0.06541
NM_153717.3(EVC):c.*53T>C rs7676531 0.06533
NM_201384.3(PLEC):c.4644G>A (p.Ala1548=) rs62642470 0.06519
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=) rs692003 0.06494
NM_001039958.2(MESP2):c.412G>A (p.Val138Met) rs28462216 0.06491
NM_032575.3(GLIS2):c.1474A>G (p.Thr492Ala) rs8057701 0.06483
NM_001130987.2(DYSF):c.1038C>T (p.His346=) rs36122356 0.06463
NM_002855.5(NECTIN1):c.*727T>C rs11603655 0.06453
NM_213599.3(ANO5):c.879-18T>C rs7104758 0.06440
NM_153717.3(EVC):c.1115C>T (p.Thr372Met) rs28483498 0.06438
NM_024685.4(BBS10):c.*498A>G rs79517322 0.06435
NM_001283009.2(RTEL1):c.2112C>T (p.Asp704=) rs61753459 0.06433
NM_032119.4(ADGRV1):c.9280G>A (p.Val3094Ile) rs13157270 0.06417
NM_000091.5(COL4A3):c.1576-15T>G rs56243460 0.06412
NM_016042.4(EXOSC3):c.673T>C (p.Tyr225His) rs3208406 0.06407
NM_001099287.2(NIPAL4):c.*79C>T rs9313608 0.06391
NM_005236.3(ERCC4):c.1984T>C (p.Ser662Pro) rs2020955 0.06391
NM_001099287.2(NIPAL4):c.*566C>A rs10476052 0.06380
NM_017777.4(MKS1):c.1671G>C (p.Leu557=) rs11548967 0.06374
NM_001127649.3(PEX26):c.*1623G>T rs114698763 0.06369
NM_025074.7(FRAS1):c.3312T>C (p.Ser1104=) rs35774552 0.06352
NM_005529.7(HSPG2):c.8622C>T (p.His2874=) rs62642513 0.06306
NM_012233.3(RAB3GAP1):c.*1077T>C rs16831395 0.06295
NM_002180.3(IGHMBP2):c.1418+18A>G rs112575423 0.06280
NM_004937.3(CTNS):c.*527G>A rs79668190 0.06278
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06272
NM_000260.4(MYO7A):c.593-5C>T rs762666 0.06264
NM_021942.6(TRAPPC11):c.897C>A (p.Ile299=) rs62357990 0.06250
NM_001199107.2(TBC1D24):c.207T>C (p.Pro69=) rs13339237 0.06245
NM_201384.3(PLEC):c.2658G>A (p.Leu886=) rs78012434 0.06211
NM_017433.5(MYO3A):c.2497G>T (p.Ala833Ser) rs33947968 0.06209
NM_020631.6(PLEKHG5):c.1240G>A (p.Ala414Thr) rs74809741 0.06203
NM_001145809.2(MYH14):c.1149T>C (p.Phe383=) rs61734424 0.06194
NM_000334.4(SCN4A):c.864C>T (p.Asn288=) rs7218917 0.06188
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723 0.06184
NM_000162.5(GCK):c.*477C>T rs2908275 0.06179
NM_015028.4(TNIK):c.2995G>A (p.Ala999Thr) rs17857452 0.06173
NM_000287.4(PEX6):c.2364G>A (p.Val788=) rs2274515 0.06152
NM_000208.4(INSR):c.*4195T>C rs1366601 0.06149
NM_022464.5(SIL1):c.-6C>G rs11555154 0.06144
NM_207361.6(FREM2):c.2602C>G (p.Leu868Val) rs7329939 0.06144
NM_000287.4(PEX6):c.*319C>T rs736158 0.06143
NM_207361.6(FREM2):c.2165G>A (p.Arg722Lys) rs58363253 0.06139
NM_001081.4(CUBN):c.618C>T (p.Tyr206=) rs41289313 0.06126
NM_020247.5(COQ8A):c.*681G>A rs10482 0.06118
NM_001267550.2(TTN):c.38753T>C (p.Leu12918Ser) rs2562847 0.06111
NM_001378454.1(ALMS1):c.3894A>G (p.Gln1298=) rs112034360 0.06109
NM_018972.4(GDAP1):c.*1173G>T rs72665430 0.06104
NM_001194998.2(CEP152):c.2740C>G (p.Leu914Val) rs16961560 0.06089
NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu) rs57611801 0.06070
NM_001367624.2(ZNF469):c.8330A>T (p.Asp2777Val) rs3812954 0.06060
NM_000208.4(INSR):c.*4186T>C rs1366600 0.06049
NM_000553.6(WRN):c.1161G>A (p.Met387Ile) rs1800391 0.06046
NM_001267550.2(TTN):c.71993G>A (p.Arg23998His) rs10164753 0.06031
NM_001283009.2(RTEL1):c.3891A>G (p.Pro1297=) rs1056990 0.06020
NM_001367624.2(ZNF469):c.3516T>C (p.Arg1172=) rs111557381 0.06017
NM_182961.4(SYNE1):c.2653T>G (p.Leu885Val) rs17082709 0.06016
NM_004937.2(CTNS):c.-520T>C rs111977802 0.06010
NM_001379180.1(ESRRB):c.1219C>T (p.Pro407Ser) rs61742642 0.06008
NM_020631.6(PLEKHG5):c.1318A>G (p.Met440Val) rs61740145 0.06002
NM_013382.7(POMT2):c.-124G>A rs147337187 0.06001
NM_001267550.2(TTN):c.29042-16G>A rs10203085 0.05999
NM_004937.2(CTNS):c.-458C>T rs11657606 0.05976
NM_000334.4(SCN4A):c.*1357A>G rs113012761 0.05971
NM_022336.4(EDAR):c.1109T>C (p.Val370Ala) rs3827760 0.05968
NM_001081.4(CUBN):c.1245T>C (p.Gly415=) rs12571671 0.05965
NM_018319.4(TDP1):c.*1448G>A rs34004710 0.05962
NM_004560.4(ROR2):c.*1016T>G rs1135169 0.05960
NM_018319.4(TDP1):c.*1452C>T rs34923595 0.05957
NM_004560.4(ROR2):c.*712C>T rs1135150 0.05951
NM_006996.3(SLC19A2):c.*1814G>A rs12091844 0.05951
NM_018319.4(TDP1):c.*1460C>G rs35944390 0.05950
NM_018319.4(TDP1):c.1077A>G (p.Pro359=) rs17126522 0.05945
NM_153717.3(EVC):c.341C>T (p.Ala114Val) rs16837598 0.05943
NM_025103.4(IFT74):c.165A>G (p.Ile55Met) rs10812505 0.05909
NM_201384.3(PLEC):c.8319C>T (p.Ala2773=) rs34534853 0.05909
NM_004766.3(COPB2):c.1095-23T>C rs80249265 0.05901
NM_005529.7(HSPG2):c.3360G>A (p.Ala1120=) rs41307806 0.05882
NM_001384474.1(LOXHD1):c.1087G>A (p.Val363Ile) rs10163657 0.05881
NM_031471.6(FERMT3):c.729C>T (p.Ala243=) rs17851033 0.05878
NM_005708.5(GPC6):c.*4066A>C rs41275872 0.05872
NM_001267550.2(TTN):c.22080T>C (p.Asp7360=) rs16866473 0.05854
NM_006892.4(DNMT3B):c.1881C>T (p.Asp627=) rs17123657 0.05837
NM_004560.4(ROR2):c.2154C>T (p.Pro718=) rs2230577 0.05836
NM_001283009.2(RTEL1):c.879T>C (p.Gly293=) rs6010616 0.05825
NM_201384.3(PLEC):c.265-16C>G rs11993492 0.05821
NM_201384.3(PLEC):c.7726C>T (p.Leu2576=) rs11988293 0.05812
NM_201384.3(PLEC):c.5865G>A (p.Ala1955=) rs62642469 0.05798
NM_001081.4(CUBN):c.5304C>T (p.Ile1768=) rs61841454 0.05795
NM_001040167.2(LFNG):c.482-4A>G rs62444250 0.05791
NM_001267550.2(TTN):c.79062T>A (p.Gly26354=) rs3731744 0.05786
NM_000334.4(SCN4A):c.*122G>A rs2228997 0.05774
NM_005219.5(DIAPH1):c.117+14C>T rs2074913 0.05773
NM_001283009.2(RTEL1):c.371A>G (p.Asn124Ser) rs3848668 0.05764
NM_018075.5(ANO10):c.1066A>G (p.Ser356Gly) rs56389778 0.05750
NM_016373.4(WWOX):c.517-108230A>G rs77067228 0.05744
NM_020631.6(PLEKHG5):c.2307G>A (p.Thr769=) rs3138150 0.05741
NM_032119.4(ADGRV1):c.4506C>T (p.Pro1502=) rs17543819 0.05741
NM_201384.3(PLEC):c.7878G>A (p.Leu2626=) rs34803322 0.05741
NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser) rs4894048 0.05739
NM_031471.6(FERMT3):c.895-4C>T rs59250939 0.05738
NM_022098.4(XPNPEP3):c.*3366C>T rs12168248 0.05737
NM_022098.4(XPNPEP3):c.*3137C>G rs12168140 0.05733
NM_182961.4(SYNE1):c.19104+17A>G rs17082389 0.05731
NM_001267550.2(TTN):c.107267T>C (p.Val35756Ala) rs16866378 0.05725
NM_022098.4(XPNPEP3):c.*2958G>A rs9623284 0.05707
NM_001814.6(CTSC):c.1357A>G (p.Ile453Val) rs3888798 0.05696
NM_005529.7(HSPG2):c.825G>A (p.Leu275=) rs41307868 0.05694
NM_001814.6(CTSC):c.1173T>G (p.Thr391=) rs17594 0.05691
NM_025074.7(FRAS1):c.6924C>T (p.Val2308=) rs13123710 0.05675
NM_000760.4(CSF3R):c.1528G>C (p.Asp510His) rs3917991 0.05672
NM_006397.3(RNASEH2A):c.637+13G>A rs73503453 0.05671
NM_000165.5(GJA1):c.*3dup rs397824185 0.05665
NM_000302.4(PLOD1):c.1632A>C (p.Ala544=) rs2230898 0.05658
NM_032119.4(ADGRV1):c.8291C>T (p.Ser2764Leu) rs16869016 0.05655
NM_015046.7(SETX):c.498+30T>C rs11790312 0.05653
NM_000260.4(MYO7A):c.4441+148A>G rs4944149 0.05652
NM_015114.3(ANKLE2):c.2038G>A (p.Glu680Lys) rs78905764 0.05652
NM_015114.3(ANKLE2):c.2672G>C (p.Gly891Ala) rs77646743 0.05652
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn) rs11888217 0.05644
NM_032575.3(GLIS2):c.-11G>A rs28449480 0.05644
NM_003383.5(VLDLR):c.175G>A (p.Val59Ile) rs6149 0.05632
NM_006208.3(ENPP1):c.313+9G>T rs7773477 0.05630
NM_001079866.2(BCS1L):c.655+63C>T rs36085075 0.05627
NM_001267550.2(TTN):c.105582C>T (p.Ser35194=) rs3829749 0.05620
NM_002160.4(TNC):c.5341G>A (p.Ala1781Thr) rs2274750 0.05620
NM_001079866.2(BCS1L):c.996C>T (p.Asn332=) rs33946522 0.05607
NM_016302.4(CRBN):c.735T>C (p.Tyr245=) rs17027638 0.05605
NM_001267550.2(TTN):c.15792T>C (p.Ile5264=) rs12993099 0.05590
NM_020631.6(PLEKHG5):c.2428G>A (p.Gly810Ser) rs76625876 0.05582
NM_014918.5(CHSY1):c.1302C>T (p.Tyr434=) rs2005180 0.05576
NM_020779.4(WDR35):c.2599G>A (p.Ala867Thr) rs2293669 0.05563
NM_025114.4(CEP290):c.6357+20A>T rs7971699 0.05562
NM_022098.4(XPNPEP3):c.*3690G>T rs150218150 0.05556
NM_001171.6(ABCC6):c.*17G>A rs3902401 0.05552
NM_003573.2(LTBP4):c.2144-11C>A rs41470347 0.05552
NM_022124.6(CDH23):c.625-93G>A rs736717 0.05549
NM_013382.7(POMT2):c.162G>T (p.Ala54=) rs2270420 0.05519
NM_001384474.1(LOXHD1):c.5878+60A>G rs60852510 0.05517
NM_138694.4(PKHD1):c.8643-24A>G rs2766125 0.05514
NM_000254.3(MTR):c.340-6C>T rs7526063 0.05512
NM_004100.5(EYA4):c.*3014T>C rs76510133 0.05509
NM_020631.6(PLEKHG5):c.1179G>A (p.Leu393=) rs112471131 0.05506
NM_138694.4(PKHD1):c.8798-19del rs112525785 0.05493
NM_018075.5(ANO10):c.*432G>T rs17075612 0.05474
NM_015602.4(TOR1AIP1):c.879A>C (p.Gln293His) rs17279712 0.05445
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu) rs35676114 0.05430
NM_138694.4(PKHD1):c.8174-49G>C rs12527920 0.05408
NM_018389.5(SLC35C1):c.*414G>A rs1139267 0.05406
NM_006846.4(SPINK5):c.1344G>A (p.Arg448=) rs17107741 0.05403
NM_206933.4(USH2A):c.9595A>G (p.Asn3199Asp) rs4129843 0.05402
NM_000414.4(HSD17B4):c.*260A>G rs28943596 0.05395
NM_006012.4(CLPP):c.-5G>A rs75589928 0.05394
NM_001384140.1(PCDH15):c.2868+69G>A rs11003980 0.05390
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793 0.05381
NM_020751.3(COG6):c.1340T>C (p.Met447Thr) rs41286961 0.05379
NM_006208.3(ENPP1):c.*3838G>A rs59958908 0.05378
NM_020458.4(TTC7A):c.2202C>T (p.Ile734=) rs17036191 0.05377
NM_207361.6(FREM2):c.-260A>G rs7997838 0.05375
NM_025114.4(CEP290):c.5709+18C>A rs7973969 0.05367
NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln) rs1800067 0.05364
NM_012463.4(ATP6V0A2):c.*3603G>A rs73420352 0.05364
NM_004525.3(LRP2):c.769+18T>C rs62171262 0.05350
NM_080628.3(TLDC2):c.*18-559G>A rs8124728 0.05345
NM_012463.4(ATP6V0A2):c.*574C>T rs112521789 0.05337
NM_000286.3(PEX12):c.-534C>T rs2278950 0.05335
NM_025114.4(CEP290):c.442-19T>A rs113132803 0.05334
NM_207361.6(FREM2):c.303C>A (p.Pro101=) rs8002488 0.05332
NM_022124.6(CDH23):c.3580-12C>T rs73275848 0.05331
NM_138694.4(PKHD1):c.8173+37G>A rs12523900 0.05319
NM_170707.4(LMNA):c.810+13G>T rs11264444 0.05317
NM_018319.4(TDP1):c.-224A>G rs35439694 0.05316
NM_000070.3(CAPN3):c.606T>C (p.Ser202=) rs17593 0.05293
NM_006005.3(WFS1):c.*241T>C rs60985011 0.05284
NM_020964.3(EPG5):c.5591G>A (p.Ser1864Asn) rs34064739 0.05283
NM_015602.4(TOR1AIP1):c.964+17A>G rs17370826 0.05277
NM_153676.4(USH1C):c.2226+12C>T rs17703528 0.05274
NM_207361.6(FREM2):c.5003G>A (p.Arg1668His) rs1868463 0.05268
NM_004937.3(CTNS):c.462T>C (p.Ser154=) rs77453839 0.05257
NM_201384.3(PLEC):c.9101C>T (p.Ala3034Val) rs35858667 0.05256
NM_005529.7(HSPG2):c.5575+32T>C rs200354565 0.05248
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738 0.05247
NM_201384.3(PLEC):c.8025C>T (p.Gly2675=) rs35139934 0.05241
NM_147127.5(EVC2):c.3253C>T (p.Leu1085=) rs112554914 0.05240
NM_001379286.1(ZNF423):c.1569T>C (p.Asn523=) rs13336762 0.05236
NM_138694.4(PKHD1):c.8302+18A>G rs12529717 0.05228
NM_022336.4(EDAR):c.*1248G>T rs75155869 0.05209
NM_014028.4(OSTM1):c.*2547G>A rs111332944 0.05196
NM_206933.4(USH2A):c.652-80T>C rs45594833 0.05185
NM_022124.6(CDH23):c.67+12C>T rs74144963 0.05182
NM_001283009.2(RTEL1):c.786G>A (p.Ser262=) rs6011020 0.05175
NM_139319.3(SLC17A8):c.*71T>C rs75599713 0.05167
NM_020779.4(WDR35):c.*1489G>A rs10182866 0.05128
NM_002617.4(PEX10):c.279C>T (p.Gly93=) rs1143016 0.05120
NM_017739.4(POMGNT1):c.1867= (p.Met623=) rs6659553 0.05119
NM_020632.3(ATP6V0A4):c.1155C>T (p.Val385=) rs58568563 0.05118
NM_001267550.2(TTN):c.3087T>C (p.Tyr1029=) rs55863869 0.05117
NM_001039958.2(MESP2):c.558G>A (p.Gln186=) rs28546919 0.05106
NM_000082.4(ERCC8):c.*519C>A rs4647157 0.05096
NM_004525.3(LRP2):c.*544T>C rs79052831 0.05096
NM_182961.4(SYNE1):c.26060C>T (p.Thr8687Ile) rs35591210 0.05093
NM_206933.4(USH2A):c.4627+145T>G rs55761862 0.05087
NM_001099287.2(NIPAL4):c.*1733G>T rs11739062 0.05086
NM_182961.4(SYNE1):c.8163C>T (p.Ser2721=) rs58905396 0.05078
NM_022098.4(XPNPEP3):c.*4362C>G rs9623286 0.05075
NM_001267550.2(TTN):c.29799G>A (p.Ser9933=) rs2742344 0.05063
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690 0.05059
NM_000782.5(CYP24A1):c.-76C>T rs73913755 0.05036
NM_001081.4(CUBN):c.7913-11A>G rs7088988 0.05036
NM_004086.3(COCH):c.1477+9C>A rs17097458 0.05034
NM_025132.4(WDR19):c.-9A>G rs60800612 0.05032
NM_001267550.2(TTN):c.8919C>G (p.Ser2973=) rs4894045 0.05021
NM_001267550.2(TTN):c.9461A>G (p.Lys3154Arg) rs4893853 0.05020
NM_001048166.1(STIL):c.-44+15G>A rs13376465 0.05019
NM_001194998.2(CEP152):c.2019-13G>A rs9302144 0.05016
NM_138694.4(PKHD1):c.1587T>C (p.Asn529=) rs62406036 0.05014
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser) rs62406032 0.05010
NM_001171.6(ABCC6):c.3507-16T>C rs3213471 0.04995
NM_000557.5(GDF5):c.*425T>C rs56366915 0.04970
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_012414.4(RAB3GAP2):c.1041-18A>C rs73098579 0.04963
NM_001386140.1(MTTP):c.285G>C (p.Gln95His) rs61733139 0.04959
NM_020066.5(FMN2):c.3216G>A (p.Ala1072=) rs71646895 0.04951
NM_022098.4(XPNPEP3):c.*4586G>A rs9619920 0.04950
NM_138694.4(PKHD1):c.11509G>A (p.Val3837Ile) rs9474034 0.04948
NM_206933.4(USH2A):c.1931A>T (p.Asp644Val) rs1805048 0.04940
NM_005529.7(HSPG2):c.12994G>A (p.Val4332Ile) rs1138469 0.04935
NM_006005.3(WFS1):c.1023C>T (p.Phe341=) rs56072215 0.04932
NM_015272.5(RPGRIP1L):c.530-29G>A rs74393433 0.04932
NM_182961.4(SYNE1):c.10145+12T>C rs112401775 0.04924
NM_153676.4(USH1C):c.2134-12T>C rs76769358 0.04923
NM_213599.3(ANO5):c.*3152G>A rs79486036 0.04921
NM_018136.5(ASPM):c.7860G>C (p.Gln2620His) rs12138336 0.04915
NM_001267550.2(TTN):c.8492G>A (p.Ser2831Asn) rs2306636 0.04907
NM_006846.4(SPINK5):c.-61A>C rs74572734 0.04900
NM_001267550.2(TTN):c.13218C>T (p.Ala4406=) rs1883084 0.04879
NM_005529.7(HSPG2):c.5575+31C>A rs12757277 0.04871
NM_001039958.2(MESP2):c.531G>A (p.Ala177=) rs75049807 0.04869
NM_012414.4(RAB3GAP2):c.3868-31C>G rs12032738 0.04866
NM_022098.4(XPNPEP3):c.*2978G>A rs9623285 0.04861
NM_018075.5(ANO10):c.1682C>T (p.Thr561Met) rs17409162 0.04859
NM_201384.3(PLEC):c.2613-7C>A rs11990994 0.04852
NM_194248.3(OTOF):c.*696A>G rs55744034 0.04838
NM_033028.4(BBS4):c.-38C>A rs11637927 0.04836
NM_001267550.2(TTN):c.13594A>C (p.Thr4532Pro) rs2562829 0.04828
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410 0.04825
NM_018451.5(CENPJ):c.1560A>T (p.Thr520=) rs17081368 0.04825
NM_022098.4(XPNPEP3):c.*467C>T rs12169203 0.04815
NM_001267550.2(TTN):c.13800A>C (p.Leu4600Phe) rs1883085 0.04810
NM_004525.3(LRP2):c.6759T>C (p.Asp2253=) rs35114151 0.04805
NM_000260.4(MYO7A):c.4441+89T>C rs11237115 0.04804
NM_015102.5(NPHP4):c.1470C>T (p.Leu490=) rs12116997 0.04804
NM_001267550.2(TTN):c.12255T>C (p.Ile4085=) rs2742357 0.04800
NM_001267550.2(TTN):c.3759A>G (p.Arg1253=) rs2291308 0.04799
NM_001267550.2(TTN):c.7830G>C (p.Met2610Ile) rs56142888 0.04798
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) rs3219484 0.04794
NM_001143992.2(WRAP53):c.1308T>C (p.Ala436=) rs34016213 0.04793
NM_001267550.2(TTN):c.4715G>A (p.Arg1572Gln) rs12476289 0.04792
NM_004407.4(DMP1):c.*905A>G rs73843105 0.04782
NM_012233.3(RAB3GAP1):c.*1378T>C rs59746814 0.04762
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe) rs41277200 0.04760
NM_206933.4(USH2A):c.8681+120G>A rs56301415 0.04758
NM_004937.3(CTNS):c.*1665A>G rs112317698 0.04756
NM_000208.4(INSR):c.3033C>T (p.Tyr1011=) rs1799815 0.04745
NM_001384474.1(LOXHD1):c.6584G>A (p.Arg2195His) rs74316327 0.04745
NM_012414.4(RAB3GAP2):c.2587A>G (p.Thr863Ala) rs12045447 0.04740
NM_004415.4(DSP):c.4578C>A (p.Asn1526Lys) rs28763966 0.04717
NM_139343.3(BIN1):c.1573-18G>C rs12466912 0.04714
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922 0.04708
NM_020964.3(EPG5):c.2532G>C (p.Glu844Asp) rs3744999 0.04674
NM_002473.6(MYH9):c.2256T>C (p.Asn752=) rs9619601 0.04672
NM_201384.3(PLEC):c.3717C>T (p.Ala1239=) rs112173070 0.04668
NM_006208.3(ENPP1):c.*1670T>C rs9493122 0.04663
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758 0.04663
NM_016122.3(CEP83):c.826C>T (p.Arg276Trp) rs74340001 0.04663
NM_006208.3(ENPP1):c.*735A>G rs12212882 0.04659
NM_006208.3(ENPP1):c.*1348T>C rs9483349 0.04649
NM_001283009.2(RTEL1):c.1482-6G>A rs76364377 0.04646
NM_005708.5(GPC6):c.*3723T>G rs15600 0.04644
NM_002230.4(JUP):c.1653+10C>A rs73983658 0.04634
NM_000070.3(CAPN3):c.2380+12del rs28364538 0.04623
NM_021830.5(TWNK):c.1102G>A (p.Val368Ile) rs17113613 0.04615
NM_000023.4(SGCA):c.37+23G>A rs79410682 0.04614
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314 0.04612
NM_018319.4(TDP1):c.-177C>T rs35132667 0.04596
NM_005888.3(SLC25A3):c.-78G>A rs28372744 0.04592
NM_032119.4(ADGRV1):c.14905T>C (p.Trp4969Arg) rs7729495 0.04586
NM_024989.4(PGAP1):c.1862-3C>T rs73988069 0.04584
NM_016356.5(DCDC2):c.183C>T (p.Ala61=) rs33943110 0.04583
NM_145861.4(EDARADD):c.*1593G>T rs61736989 0.04569
NM_025074.7(FRAS1):c.2128A>C (p.Ile710Leu) rs345512 0.04568
NM_182961.4(SYNE1):c.5190T>A (p.Asp1730Glu) rs111250109 0.04561
NM_201384.3(PLEC):c.11601C>T (p.Asp3867=) rs75833626 0.04561
NM_000208.4(INSR):c.*3029T>C rs72988602 0.04550
NM_001267550.2(TTN):c.88272G>A (p.Glu29424=) rs9808036 0.04549
NM_000302.4(PLOD1):c.2124T>C (p.His708=) rs879690 0.04545
NM_001171.6(ABCC6):c.645G>A (p.Thr215=) rs72664282 0.04543
NM_001367624.2(ZNF469):c.1285G>A (p.Ala429Thr) rs113937803 0.04541
NM_001184.4(ATR):c.2442A>G (p.Glu814=) rs55895932 0.04528
NM_014028.4(OSTM1):c.*1161G>A rs17069228 0.04528
NM_206933.4(USH2A):c.15522T>C (p.Tyr5174=) rs77792891 0.04524
NM_006846.4(SPINK5):c.209+15C>T rs3752677 0.04511
NM_001146079.2(CLDN14):c.11C>T (p.Thr4Met) rs113831133 0.04508
NM_001042545.2(LTBP4):c.1300T>A (p.Ser434Thr) rs34545902 0.04499
NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe) rs16841081 0.04499
NM_138694.4(PKHD1):c.11507-21A>G rs2174860 0.04499
NM_018972.4(GDAP1):c.485-20C>G rs73345392 0.04498
NM_022098.4(XPNPEP3):c.*6201A>T rs9917 0.04498
NM_138694.4(PKHD1):c.11714T>A (p.Ile3905Asn) rs2661488 0.04490
NM_015910.7(WDPCP):c.802G>A (p.Gly268Ser) rs17617459 0.04486
NM_001127671.2(LIFR):c.*5356A>G rs7713531 0.04455
NM_000441.2(SLC26A4):c.*1797G>C rs76820337 0.04454
NM_004004.6(GJB2):c.*1197T>A rs11841182 0.04451
NM_000277.3(PAH):c.1278T>C (p.Asn426=) rs59326968 0.04425
NM_025074.7(FRAS1):c.2575+15G>A rs79624813 0.04419
NM_002857.4(PEX19):c.*2353G>T rs9853 0.04407
NM_206933.4(USH2A):c.11736G>A (p.Glu3912=) rs56053654 0.04404
NM_145861.4(EDARADD):c.-3G>A rs79233817 0.04402
NM_000208.4(INSR):c.*3623A>G rs77859571 0.04400
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335 0.04399
NM_004525.3(LRP2):c.4236G>C (p.Arg1412=) rs34915742 0.04398
NM_000070.3(CAPN3):c.498+35G>T rs28364399 0.04397
NM_001267550.2(TTN):c.26200+19A>T rs2562837 0.04396
NM_000553.6(WRN):c.355+20A>T rs4987239 0.04393
NM_003383.5(VLDLR):c.1458C>T (p.Ala486=) rs6143 0.04393
NM_004525.3(LRP2):c.4046-6T>C rs76714416 0.04392
NM_206933.4(USH2A):c.11907A>T (p.Pro3969=) rs61635304 0.04389
NM_001267550.2(TTN):c.28662G>A (p.Arg9554=) rs2742332 0.04384
NM_015102.5(NPHP4):c.86C>T (p.Thr29Met) rs12142270 0.04382
NM_152384.3(BBS5):c.39C>G (p.Val13=) rs10188609 0.04379
NM_004415.4(DSP):c.8175C>A (p.Arg2725=) rs11558731 0.04375
NM_000492.4(CFTR):c.-8G>C rs1800501 0.04368
NM_004153.4(ORC1):c.*231C>T rs3087471 0.04368
NM_000123.4(ERCC5):c.1586G>C (p.Cys529Ser) rs2227869 0.04366
NM_194248.3(OTOF):c.*697G>A rs60182448 0.04365
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val) rs34671418 0.04349
NM_003193.5(TBCE):c.1068A>G (p.Leu356=) rs6666168 0.04346
NM_017777.4(MKS1):c.*472C>G rs17174788 0.04345
NM_001130987.2(DYSF):c.1807-24C>G rs2303595 0.04339
NM_000506.5(F2):c.480C>T (p.Pro160=) rs3136452 0.04324
NM_006846.4(SPINK5):c.2661C>G (p.Ser887Arg) rs28408445 0.04324
NM_153240.5(NPHP3):c.2610G>A (p.Pro870=) rs16839515 0.04323
NM_015046.7(SETX):c.*717T>C rs17148857 0.04316
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln) rs45559835 0.04292
NM_004565.3(PEX14):c.1014C>T (p.Asp338=) rs2128414 0.04291
NM_012463.4(ATP6V0A2):c.*3227C>G rs111540619 0.04290
NM_006846.4(SPINK5):c.2965-10G>C rs58888156 0.04288
NM_001378615.1(CC2D2A):c.777C>T (p.His259=) rs2286976 0.04284
NM_000288.4(PEX7):c.803+105A>C rs72985582 0.04283
NM_139343.3(BIN1):c.714C>T (p.Tyr238=) rs1137845 0.04283
NM_201384.3(PLEC):c.10014C>T (p.Val3338=) rs35775257 0.04275
NM_032119.4(ADGRV1):c.*60A>G rs41311627 0.04272
NM_000782.5(CYP24A1):c.1527C>T (p.Ile509=) rs61730999 0.04268
NM_020632.3(ATP6V0A4):c.-25C>G rs35301422 0.04265
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp) rs7970228 0.04262
NM_005529.7(HSPG2):c.10918G>A (p.Val3640Ile) rs17459097 0.04258
NM_024685.4(BBS10):c.*805T>C rs73390067 0.04252
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164 0.04243
NM_000302.4(PLOD1):c.644-17T>G rs41307745 0.04239
NM_148919.4(PSMB8):c.129T>C (p.Ala43=) rs2071542 0.04233
NM_002454.3(MTRR):c.1243C>T (p.Arg415Cys) rs2287780 0.04230
NM_004100.5(EYA4):c.*1658C>T rs73546865 0.04226
NM_002454.3(MTRR):c.1155G>A (p.Leu385=) rs2287779 0.04224
NM_001083961.2(WDR62):c.180G>A (p.Val60=) rs61742664 0.04216
NM_012233.3(RAB3GAP1):c.*171G>A rs11558413 0.04215
NM_001614.5(ACTG1):c.1026T>C (p.Gly342=) rs1139406 0.04214
NM_024685.4(BBS10):c.-52C>T rs79580268 0.04214
NM_024596.5(MCPH1):c.790A>G (p.Ile264Val) rs34121009 0.04213
NM_006019.4(TCIRG1):c.166C>T (p.Arg56Trp) rs36027301 0.04199
NM_014918.5(CHSY1):c.1763G>C (p.Arg588Thr) rs62621400 0.04196
NM_001614.5(ACTG1):c.1014G>A (p.Ser338=) rs1139807 0.04188
NM_001614.5(ACTG1):c.1128A>G (p.Ter376=) rs11549223 0.04188
NM_032119.4(ADGRV1):c.18475A>G (p.Met6159Val) rs77469944 0.04185
NM_018136.5(ASPM):c.1977T>C (p.Ile659=) rs17550662 0.04184
NM_001040167.2(LFNG):c.972G>A (p.Ser324=) rs12700028 0.04179
NM_000163.5(GHR):c.*1934T>C rs62372049 0.04177
NM_206933.4(USH2A):c.9296A>G (p.Asn3099Ser) rs41277194 0.04165
NM_000124.4(ERCC6):c.-78G>T rs4253005 0.04162
NM_020779.4(WDR35):c.*1127A>G rs75503594 0.04161
NM_016038.4(SBDS):c.129-71G>A rs62466589 0.04156
NM_213599.3(ANO5):c.*3121A>G rs35827261 0.04156
NM_000466.3(PEX1):c.358-11G>C rs113104510 0.04153
NM_033028.5(BBS4):c.906= (p.Phe302=) rs12914333 0.04151
NM_020247.5(COQ8A):c.255T>G (p.His85Gln) rs2297411 0.04148
NM_001367624.2(ZNF469):c.1143C>A (p.Pro381=) rs74032864 0.04134
NM_000045.4(ARG1):c.270C>T (p.Asn90=) rs34504481 0.04124
NM_000334.4(SCN4A):c.366C>T (p.Arg122=) rs41280108 0.04121
NM_005708.5(GPC6):c.*255G>A rs9584224 0.04109
NM_004407.4(DMP1):c.*280C>T rs76370957 0.04084
NM_153704.6(TMEM67):c.2892A>C (p.Thr964=) rs16916221 0.04084
NM_006208.3(ENPP1):c.*2282G>A rs73778612 0.04080
NM_024753.5(TTC21B):c.2211+13A>G rs73969727 0.04080
NM_000414.4(HSD17B4):c.739+23T>C rs6895345 0.04079
NM_004525.3(LRP2):c.13155C>T (p.His4385=) rs16856476 0.04079
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln) rs72648998 0.04075
NM_001267550.2(TTN):c.105782C>T (p.Pro35261Leu) rs16866380 0.04073
NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn) rs3813243 0.04071
NM_004525.3(LRP2):c.6040+15C>T rs17848168 0.04070
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406 0.04069
NM_206933.4(USH2A):c.7300+43C>T rs41277206 0.04068
NM_206933.4(USH2A):c.6587G>C (p.Ser2196Thr) rs79444516 0.04057
NM_001042472.3(ABHD12):c.1045G>A (p.Ala349Thr) rs746748 0.04054
NM_001278293.3(ARL6):c.186-18T>C rs77906443 0.04049
NM_033629.6(TREX1):c.912G>A (p.Leu304=) rs3135945 0.04049
NM_182961.4(SYNE1):c.15597C>G (p.Ala5199=) rs9383987 0.04048
NM_022089.4(ATP13A2):c.1005C>T (p.Ala335=) rs56290406 0.04044
NM_145861.4(EDARADD):c.*1613T>C rs61737025 0.04028
NM_004100.5(EYA4):c.-76C>T rs78081370 0.04026
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140 0.04021
NM_001127671.2(LIFR):c.143-60A>G rs62355821 0.04013
NM_004004.6(GJB2):c.*168A>G rs55704559 0.04011
NM_022095.4(ZNF335):c.2595C>A (p.Asp865Glu) rs41280276 0.04003
NM_000231.3(SGCG):c.703-18T>C rs9580603 0.04002
NM_015046.7(SETX):c.*1700G>T rs75682594 0.03993
NM_004004.6(GJB2):c.*931C>T rs5030700 0.03992
NM_032193.4(RNASEH2C):c.*1776C>T rs4645936 0.03991
NM_004999.4(MYO6):c.*1703C>T rs9360957 0.03977
NM_173477.5(USH1G):c.388A>G (p.Lys130Glu) rs111033465 0.03966
NM_001267550.2(TTN):c.98912G>A (p.Arg32971His) rs4894028 0.03961
NM_025132.4(WDR19):c.910G>A (p.Val304Ile) rs75964850 0.03961
NM_001386140.1(MTTP):c.1769+14C>T rs41275713 0.03960
NM_201384.3(PLEC):c.5583G>A (p.Ala1861=) rs75586449 0.03960
NM_000260.4(MYO7A):c.4441+195G>A rs4945157 0.03958
NM_001386140.1(MTTP):c.730C>G (p.Gln244Glu) rs17599091 0.03958
NM_022124.6(CDH23):c.4509C>T (p.Gly1503=) rs10999978 0.03956
NM_139343.3(BIN1):c.894G>A (p.Ser298=) rs2228955 0.03955
NM_021252.5(RAB18):c.*2744C>T rs12254670 0.03950
NM_021252.5(RAB18):c.*2449A>G rs12260532 0.03947
NM_018389.5(SLC35C1):c.*955C>A rs76564550 0.03946
NM_001267550.2(TTN):c.49731T>C (p.His16577=) rs2115558 0.03943
NM_021252.5(RAB18):c.*1412C>T rs10508723 0.03943
NM_021252.5(RAB18):c.*2476G>A rs12267298 0.03943
NM_000360.4(TH):c.210T>C (p.Ala70=) rs7950050 0.03941
NM_174878.3(CLRN1):c.*964C>T rs16863066 0.03941
NM_004937.3(CTNS):c.*1866C>T rs111430685 0.03936
NM_021252.5(RAB18):c.*387C>A rs12248740 0.03936
NM_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala) rs16892095 0.03933
NM_015311.3(OBSL1):c.1102C>T (p.Arg368Cys) rs35009641 0.03933
NM_001349232.2(ATG7):c.1412T>C (p.Val471Ala) rs36117895 0.03931
NM_001127671.2(LIFR):c.346C>T (p.His116Tyr) rs3729734 0.03927
NM_001127453.2(GSDME):c.863-6T>C rs55735863 0.03926
NM_005422.4(TECTA):c.56A>G (p.Gln19Arg) rs35507522 0.03926
NM_012414.4(RAB3GAP2):c.*1504G>T rs41303053 0.03924
NM_016239.4(MYO15A):c.7468G>A (p.Ala2490Thr) rs16960959 0.03924
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val) rs3731752 0.03923
NM_000163.5(GHR):c.*1770G>C rs144561552 0.03922
NM_025074.7(FRAS1):c.160G>C (p.Asp54His) rs17003071 0.03918
NM_001127453.2(GSDME):c.*30C>T rs17274530 0.03910
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425 0.03910
NM_130384.3(ATRIP):c.*2083T>C rs3135946 0.03909
NM_014028.4(OSTM1):c.*2887G>A rs41287526 0.03905
NM_020661.4(AICDA):c.*1297G>A rs140765460 0.03904
NM_001139.3(ALOX12B):c.42C>T (p.Leu14=) rs3027308 0.03900
NM_000317.3(PTS):c.405T>C (p.Thr135=) rs59731976 0.03898
NM_002485.5(NBN):c.703-18G>A rs769418 0.03898
NM_138694.4(PKHD1):c.3756G>C (p.Leu1252=) rs9689306 0.03897
NM_153717.3(EVC):c.*908G>A rs13119698 0.03897
NM_022095.4(ZNF335):c.2703C>T (p.Ser901=) rs3746504 0.03894
NM_002454.3(MTRR):c.903+518T>A rs77578255 0.03893
NM_207361.6(FREM2):c.*5612T>G rs200747289 0.03887
NM_016356.5(DCDC2):c.454C>G (p.Pro152Ala) rs33914824 0.03882
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03859
NM_012414.4(RAB3GAP2):c.713-12T>C rs76473498 0.03857
NM_002454.3(MTRR):c.1349C>G (p.Pro450Arg) rs16879334 0.03856
NM_022124.6(CDH23):c.-258G>A rs139742443 0.03851
NM_004525.3(LRP2):c.3836A>C (p.Asp1279Ala) rs17848149 0.03848
NM_004700.4(KCNQ4):c.1665G>A (p.Pro555=) rs55964611 0.03837
NM_005529.7(HSPG2):c.6133+19T>C rs36080251 0.03837
NM_005529.7(HSPG2):c.8939T>A (p.Leu2980His) rs2229489 0.03837
NM_005529.7(HSPG2):c.6552G>A (p.Thr2184=) rs34443576 0.03836
NM_005529.7(HSPG2):c.8026-5T>C rs35917892 0.03832
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile) rs41281334 0.03832
NM_005529.7(HSPG2):c.6673G>A (p.Gly2225Ser) rs35669711 0.03830
NM_174878.3(CLRN1):c.6A>C (p.Pro2=) rs111033422 0.03830
NM_013335.4(GMPPA):c.1162+18C>T rs111553864 0.03828
NM_005529.7(HSPG2):c.7806C>A (p.Val2602=) rs12737091 0.03827
NM_004937.3(CTNS):c.*1633C>G rs112032534 0.03822
NM_182961.4(SYNE1):c.9954C>T (p.Ser3318=) rs73626656 0.03822
NM_005529.7(HSPG2):c.5899G>A (p.Val1967Ile) rs2229475 0.03821
NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=) rs16947296 0.03818
NM_005529.7(HSPG2):c.6402G>A (p.Val2134=) rs12742444 0.03814
NM_004937.3(CTNS):c.*1595C>T rs112299490 0.03812
NM_005422.4(TECTA):c.624+11C>G rs73599492 0.03810
NM_201384.3(PLEC):c.11089C>T (p.Leu3697=) rs17062686 0.03808
NM_032119.4(ADGRV1):c.14029T>C (p.Phe4677Leu) rs62000408 0.03806
NM_000414.4(HSD17B4):c.2199C>T (p.Tyr733=) rs12714 0.03803
NM_033056.4(PCDH15):c.5707A>G (p.Ile1903Val) rs79854148 0.03803
NM_014956.5(CEP164):c.2205C>T (p.Ser735=) rs494553 0.03797
NM_000492.4(CFTR):c.2909-71G>C rs34830471 0.03795
NM_022089.4(ATP13A2):c.3144C>G (p.Thr1048=) rs56126202 0.03793
NM_017755.6(NSUN2):c.622+7A>T rs16877704 0.03788
NM_001081.4(CUBN):c.109A>C (p.Ile37Leu) rs76788243 0.03753
NM_144508.5(KNL1):c.245T>C (p.Met82Thr) rs79413475 0.03753
NM_014028.4(OSTM1):c.*2053C>T rs17069215 0.03750
NM_005219.5(DIAPH1):c.390C>T (p.Tyr130=) rs34296458 0.03749
NM_014028.4(OSTM1):c.*1352A>G rs9372179 0.03746
NM_014028.4(OSTM1):c.*1334T>C rs9374008 0.03745
NM_138694.4(PKHD1):c.11340T>C (p.Pro3780=) rs17667728 0.03744
NM_001267550.2(TTN):c.100579G>A (p.Val33527Ile) rs2278196 0.03742
NM_174878.3(CLRN1):c.433+1105C>T rs16846663 0.03733
NM_001127649.3(PEX26):c.*754A>G rs114146293 0.03730
NM_016373.4(WWOX):c.646C>G (p.Leu216Val) rs7201683 0.03724
NM_000318.3(PEX2):c.*1141G>A rs10108054 0.03721
NM_001127671.2(LIFR):c.*5225C>T rs58755763 0.03718
NM_201384.3(PLEC):c.718+10C>T rs12545876 0.03717
NM_173477.5(USH1G):c.424G>A (p.Glu142Lys) rs111033466 0.03715
NM_000318.3(PEX2):c.*1909G>T rs112352942 0.03714
NM_201384.3(PLEC):c.11599G>C (p.Asp3867His) rs62642465 0.03714
NM_004700.4(KCNQ4):c.841T>C (p.Leu281=) rs55737429 0.03713
NM_000318.3(PEX2):c.*2446C>T rs73242165 0.03710
NM_001127671.2(LIFR):c.*4243A>G rs73749255 0.03708
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln) rs56181447 0.03706
NM_032119.4(ADGRV1):c.12927G>A (p.Ala4309=) rs35092519 0.03705
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val) rs16866412 0.03700
NM_201384.3(PLEC):c.6314C>T (p.Ala2105Val) rs74772299 0.03697
NM_001040167.2(LFNG):c.1002C>T (p.Tyr334=) rs61743870 0.03693
NM_000070.3(CAPN3):c.1746-64C>T rs17764849 0.03691
NM_152618.3(BBS12):c.*613T>C rs74451613 0.03678
NM_000492.4(CFTR):c.743+40A>G rs1800502 0.03675
NM_000543.5(SMPD1):c.714A>G (p.Ala238=) rs2682091 0.03664
NM_000318.3(PEX2):c.24G>A (p.Ala8=) rs9298285 0.03660
NM_016038.4(SBDS):c.651C>T (p.Phe217=) rs73151675 0.03660
NM_201384.3(PLEC):c.11913G>A (p.Ala3971=) rs73715559 0.03658
NM_001378454.1(ALMS1):c.9782-9C>T rs10199680 0.03656
NM_201384.3(PLEC):c.2548G>A (p.Ala850Thr) rs58836306 0.03656
NM_144596.4(TTC8):c.1432-12T>C rs79747892 0.03653
NM_007259.5(VPS45):c.1032A>G (p.Glu344=) rs74127419 0.03652
NM_012414.4(RAB3GAP2):c.2088A>G (p.Thr696=) rs2577126 0.03652
NM_005708.5(GPC6):c.*4182C>A rs41275874 0.03649
NM_020779.4(WDR35):c.*2957G>A rs76072774 0.03646
NM_020779.4(WDR35):c.549C>T (p.Tyr183=) rs34169020 0.03645
NM_007259.5(VPS45):c.246T>G (p.Ile82Met) rs62622370 0.03643
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys) rs73038324 0.03639
NM_144596.4(TTC8):c.*472A>C rs59300815 0.03638
NM_022095.4(ZNF335):c.1623C>T (p.His541=) rs16990964 0.03634
NM_022095.4(ZNF335):c.2253+10G>T rs6130977 0.03629
NM_001099287.2(NIPAL4):c.*1140G>T rs74580303 0.03607
NM_001194998.2(CEP152):c.*170T>C rs2169757 0.03605
NM_014028.4(OSTM1):c.*1574A>G rs41287528 0.03604
NM_000492.4(CFTR):c.3139+42A>T rs28517401 0.03591
NM_002292.4(LAMB2):c.2740G>A (p.Gly914Arg) rs35713889 0.03588
NM_001171.6(ABCC6):c.345+26C>T rs56019914 0.03581
NM_013382.7(POMT2):c.-128C>T rs116224770 0.03577
NM_004937.3(CTNS):c.*2115G>A rs77196744 0.03574
NM_014028.4(OSTM1):c.*1367G>A rs73504439 0.03564
NM_025074.7(FRAS1):c.*3092A>G rs17003335 0.03563
NM_001267550.2(TTN):c.48996G>A (p.Glu16332=) rs72677244 0.03561
NM_006208.3(ENPP1):c.*3017C>T rs1931009 0.03561
NM_025074.7(FRAS1):c.*388C>G rs75970105 0.03561
NM_000329.3(RPE65):c.246-46G>A rs3790471 0.03558
NM_000211.5(ITGB2):c.499+7C>T rs17004715 0.03552
NM_001267550.2(TTN):c.69145A>G (p.Ile23049Val) rs72646881 0.03550
NM_014028.4(OSTM1):c.207G>T (p.Gly69=) rs80219951 0.03550
NM_025132.4(WDR19):c.3250G>A (p.Gly1084Ser) rs16995209 0.03548
NM_206933.4(USH2A):c.9430G>A (p.Asp3144Asn) rs11120645 0.03545
NM_003193.5(TBCE):c.-49T>C rs55980101 0.03537
NM_001134831.2(AHI1):c.-299G>A rs113052089 0.03529
NM_006208.3(ENPP1):c.1566-14T>C rs75272847 0.03524
NM_001267550.2(TTN):c.93901G>A (p.Val31301Ile) rs67665715 0.03523
NM_198428.3(BBS9):c.1017-6T>C rs61756571 0.03520
NM_001083961.2(WDR62):c.4123G>A (p.Gly1375Ser) rs17851503 0.03516
NM_000260.4(MYO7A):c.*230A>G rs112830819 0.03507
NM_000318.3(PEX2):c.*2338C>T rs56231626 0.03506
NM_006208.3(ENPP1):c.*2036A>G rs73778611 0.03506
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902 0.03505
NM_001267550.2(TTN):c.82798G>A (p.Ala27600Thr) rs11896637 0.03502
NM_002160.4(TNC):c.2389A>C (p.Arg797=) rs16932195 0.03496
NM_153676.4(USH1C):c.1770C>T (p.Ala590=) rs17776775 0.03494
NM_001384140.1(PCDH15):c.4368-1214G>C rs16937780 0.03481
NM_001267550.2(TTN):c.37705G>A (p.Val12569Ile) rs568086259 0.03479
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321 0.03472
NM_002860.4(ALDH18A1):c.-79A>G rs117502632 0.03469
NM_001267550.2(TTN):c.4177A>G (p.Ile1393Val) rs16866531 0.03468
NM_002857.4(PEX19):c.*487T>A rs16831724 0.03465
NM_000320.3(QDPR):c.255C>T (p.Cys85=) rs12645938 0.03464
NM_032119.4(ADGRV1):c.6289C>T (p.Arg2097Cys) rs16868974 0.03455
NM_000352.6(ABCC8):c.-49G>C rs77498130 0.03452
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr) rs7665271 0.03441
NM_005219.5(DIAPH1):c.*1347C>G rs251020 0.03434
NM_002860.4(ALDH18A1):c.1770C>T (p.Ser590=) rs11541780 0.03433
NM_006846.4(SPINK5):c.1851T>C (p.Ala617=) rs17718737 0.03431
NM_000123.4(ERCC5):c.1440C>T (p.His480=) rs4150316 0.03429
NM_002617.4(PEX10):c.*11G>A rs3795270 0.03427
NM_018319.4(TDP1):c.1107T>C (p.Asn369=) rs10151377 0.03424
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp) rs56308529 0.03418
NM_182961.4(SYNE1):c.14917C>T (p.Leu4973=) rs35085679 0.03417
NM_001184.4(ATR):c.3725+18A>G rs73864554 0.03416
NM_182961.4(SYNE1):c.13221C>T (p.Asp4407=) rs10499268 0.03416
NM_000318.3(PEX2):c.*2142A>G rs79700176 0.03415
NM_031885.5(BBS2):c.1659+3A>G rs6499838 0.03415
NM_001283009.2(RTEL1):c.2823G>C (p.Glu941Asp) rs61736614 0.03406
NM_020632.3(ATP6V0A4):c.1888G>A (p.Ala630Thr) rs73730479 0.03401
NM_153240.5(NPHP3):c.*266G>A rs11708200 0.03396
NM_006208.3(ENPP1):c.*3706G>A rs12205225 0.03390
NM_001267550.2(TTN):c.36532+19A>G rs10204913 0.03369
NM_002230.4(JUP):c.405C>T (p.Asp135=) rs17850807 0.03356
NM_022098.4(XPNPEP3):c.*4561G>A rs9611438 0.03353
NM_001256317.3(TMPRSS3):c.268G>A (p.Ala90Thr) rs45598239 0.03352
NM_022098.4(XPNPEP3):c.*3351C>T rs9611437 0.03348
NM_000466.3(PEX1):c.473-18G>A rs2066743 0.03344
NM_004937.3(CTNS):c.970+15G>A rs76153698 0.03340
NM_006846.4(SPINK5):c.*59C>T rs73794699 0.03338
NM_001139.3(ALOX12B):c.-158G>T rs116492351 0.03320
NM_001083961.2(WDR62):c.562-13C>T rs78138007 0.03315
NM_032575.3(GLIS2):c.*1333C>G rs11544635 0.03314
NM_000553.6(WRN):c.*570A>G rs11574415 0.03313
NM_001083961.2(WDR62):c.3401T>G (p.Met1134Arg) rs61741470 0.03313
NM_014363.6(SACS):c.909A>G (p.Ala303=) rs41315020 0.03313
NM_004937.3(CTNS):c.-230+11A>G rs116000219 0.03310
NM_005529.7(HSPG2):c.12558C>T (p.Ser4186=) rs11552570 0.03296
NM_002473.6(MYH9):c.3345A>G (p.Glu1115=) rs875725 0.03292
NM_000318.3(PEX2):c.*1696C>T rs112199677 0.03286
NM_000070.3(CAPN3):c.1029+3A>G rs28364442 0.03285
NM_000553.6(WRN):c.-163C>G rs11574160 0.03283
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=) rs35721373 0.03282
NM_001127671.2(LIFR):c.991+80G>T rs6451387 0.03281
NM_001145809.2(MYH14):c.1890C>T (p.Val630=) rs77895476 0.03277
NM_182961.4(SYNE1):c.22473G>A (p.Leu7491=) rs34891041 0.03277
NM_016373.4(WWOX):c.941G>A (p.Arg314His) rs73572838 0.03269
NM_206933.4(USH2A):c.9343A>G (p.Thr3115Ala) rs56032526 0.03269
NM_000553.5(WRN):c.-408C>T rs11574156 0.03268
NM_001128178.3(NPHP1):c.771+39C>T rs73954628 0.03266
NM_001171.6(ABCC6):c.346-6G>A rs55778939 0.03265
NM_001013693.3(LDLRAD2):c.*109G>A rs1049675 0.03248
NM_005529.7(HSPG2):c.11601C>T (p.Tyr3867=) rs112494360 0.03245
NM_001130987.2(DYSF):c.666T>C (p.Pro222=) rs35392229 0.03244
NM_153717.3(EVC):c.1096C>T (p.Leu366=) rs6854138 0.03243
NM_152618.3(BBS12):c.1209G>A (p.Val403=) rs17006092 0.03229
NM_006397.3(RNASEH2A):c.-16T>C rs1046220 0.03226
NM_206933.4(USH2A):c.4627+699C>A rs59704861 0.03223
NM_032119.4(ADGRV1):c.10872A>G (p.Gln3624=) rs17624033 0.03213
NM_004700.4(KCNQ4):c.1657C>T (p.Leu553=) rs55925184 0.03211
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756 0.03206
NM_005422.4(TECTA):c.5733T>G (p.Val1911=) rs516678 0.03205
NM_001267550.2(TTN):c.65575+19T>G rs72646865 0.03204
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=) rs1266923 0.03202
NM_020632.3(ATP6V0A4):c.*111C>A rs75920897 0.03190
NM_002635.4(SLC25A3):c.436T>C (p.Leu146=) rs11544648 0.03180
NM_022336.4(EDAR):c.*1900C>T rs200762071 0.03161
NM_001194998.2(CEP152):c.3317T>C (p.Val1106Ala) rs16961557 0.03157
NM_152618.3(BBS12):c.1062G>C (p.Val354=) rs34296401 0.03153
NM_032119.4(ADGRV1):c.16248C>T (p.Val5416=) rs3763073 0.03149
NM_000334.4(SCN4A):c.2919C>T (p.Pro973=) rs73992419 0.03148
NM_018319.4(TDP1):c.*393T>C rs7150480 0.03142
NM_153240.5(NPHP3):c.*657C>T rs79224795 0.03141
NM_033064.5(ATCAY):c.*1586T>C rs10411454 0.03139
NM_000334.4(SCN4A):c.4288+10G>T rs114059193 0.03137
NM_032193.4(RNASEH2C):c.*2097C>T rs4645934 0.03137
NM_006721.4(ADK):c.705T>C (p.Asp235=) rs16931480 0.03126
NM_006846.4(SPINK5):c.316G>A (p.Asp106Asn) rs17860502 0.03121
NM_013382.7(POMT2):c.161C>A (p.Ala54Glu) rs8177536 0.03119
NM_015404.4(WHRN):c.1515G>A (p.Ala505=) rs34252199 0.03118
NM_000260.4(MYO7A):c.468C>T (p.Ile156=) rs12420129 0.03116
NC_000005.10:g.148063797G>A rs2287774 0.03115
NM_003193.5(TBCE):c.100+13T>G rs199696216 0.03115
NM_002857.4(PEX19):c.*1084T>C rs77962224 0.03113
NM_206933.4(USH2A):c.8624G>A (p.Arg2875Gln) rs12118814 0.03107
NM_000414.4(HSD17B4):c.2182A>G (p.Met728Val) rs28943594 0.03090
NM_000557.5(GDF5):c.497C>A (p.Pro166His) rs61754581 0.03081
NM_003701.4(TNFSF11):c.924T>C (p.Phe308=) rs9562415 0.03075
NM_000260.4(MYO7A):c.6424G>A (p.Asp2142Asn) rs1132036 0.03072
NM_139343.3(BIN1):c.1595C>T (p.Thr532Met) rs112318500 0.03069
NM_000260.4(MYO7A):c.6063G>A (p.Lys2021=) rs111033209 0.03064
NM_004560.4(ROR2):c.276C>T (p.Asn92=) rs56227711 0.03061
NM_032119.4(ADGRV1):c.380T>G (p.Leu127Arg) rs41311333 0.03061
NM_001098484.3(SLC4A4):c.1014C>T (p.His338=) rs34373561 0.03058
NM_000329.3(RPE65):c.1338+20A>C rs12564647 0.03055
NM_000329.3(RPE65):c.643+22C>T rs2274321 0.03055
NM_020458.4(TTC7A):c.1860C>T (p.Leu620=) rs13427658 0.03052
NM_002109.6(HARS1):c.951+19G>A rs73271581 0.03048
NM_002454.3(MTRR):c.769T>A (p.Ser257Thr) rs2303080 0.03048
NM_144672.4(OTOA):c.2229C>T (p.Ala743=) rs461179 0.03046
NM_002454.3(MTRR):c.1676+20A>G rs2303082 0.03042
NM_147127.5(EVC2):c.3023C>T (p.Ser1008Leu) rs60809236 0.03040
NM_001083961.2(WDR62):c.3639C>T (p.Ser1213=) rs45470992 0.03038
NM_015102.5(NPHP4):c.2724G>A (p.Ser908=) rs114545322 0.03032
NM_033064.5(ATCAY):c.*806A>G rs73919392 0.03009
NM_002485.5(NBN):c.*937T>C rs11987865 0.03004
NM_022336.4(EDAR):c.*1133C>T rs114097029 0.03003
NM_002485.5(NBN):c.*790T>G rs11987887 0.03002
NM_005529.7(HSPG2):c.12212C>T (p.Ala4071Val) rs74859884 0.02997
NM_001042545.2(LTBP4):c.1702C>G (p.Arg568Gly) rs33937741 0.02986
NM_206933.4(USH2A):c.10836C>A (p.Val3612=) rs61276761 0.02977
NM_002860.4(ALDH18A1):c.1977C>T (p.Ser659=) rs1804934 0.02975
NM_153240.5(NPHP3):c.2571-7T>C rs62292468 0.02974
NM_001692.4(ATP6V1B1):c.654C>T (p.Asp218=) rs116139984 0.02971
NM_024570.4(RNASEH2B):c.-210G>C rs112702177 0.02962
NM_001013838.3(CARMIL2):c.4195+39C>T rs117444844 0.02956
NM_012233.3(RAB3GAP1):c.1992G>A (p.Ser664=) rs7595725 0.02952
NM_152384.3(BBS5):c.108C>T (p.Ser36=) rs16823066 0.02951
NM_002700.3(POU4F3):c.90C>T (p.Ala30=) rs28994879 0.02948
NM_001382391.1(CSPP1):c.-34C>G rs117210747 0.02944
NM_024596.5(MCPH1):c.1728C>T (p.Gly576=) rs41313954 0.02943
NM_014797.3(ZBTB24):c.1701C>T (p.Pro567=) rs2232449 0.02940
NM_022124.6(CDH23):c.2060-19C>G rs2290024 0.02940
NM_014028.4(OSTM1):c.156G>C (p.Leu52Phe) rs9480830 0.02937
NM_001101426.4(CRPPA):c.726A>G (p.Gln242=) rs61746966 0.02927
NM_002485.5(NBN):c.*1692A>G rs13312986 0.02926
NM_002485.5(NBN):c.*2212G>A rs10464867 0.02921
NM_015404.4(WHRN):c.-257C>G rs73555447 0.02919
NM_003701.4(TNFSF11):c.*48T>C rs7994018 0.02917
NM_213599.3(ANO5):c.1898+29G>T rs76084798 0.02917
NM_001267550.2(TTN):c.20861C>T (p.Ala6954Val) rs17355446 0.02915
NM_016219.5(MAN1B1):c.2052C>T (p.Tyr684=) rs118117962 0.02913
NM_001384140.1(PCDH15):c.1910A>G (p.Asn637Ser) rs61731389 0.02908
NM_002473.6(MYH9):c.4563C>T (p.His1521=) rs11549907 0.02903
NM_001367624.2(ZNF469):c.8212G>A (p.Ala2738Thr) rs3812955 0.02902
NM_033064.5(ATCAY):c.*976C>G rs73919393 0.02901
NM_015910.7(WDPCP):c.*195G>A rs55807617 0.02897
NM_198428.3(BBS9):c.1029A>G (p.Gly343=) rs35195153 0.02890
NM_001283009.2(RTEL1):c.978G>A (p.Glu326=) rs41310197 0.02889
NM_001692.4(ATP6V1B1):c.1248+9A>G rs78140305 0.02887
NM_033064.5(ATCAY):c.*1542C>T rs10404967 0.02886
NM_000180.4(GUCY2D):c.3044-7G>T rs56348143 0.02884
NM_001267550.2(TTN):c.32393-12A>G rs16866434 0.02884
NM_021252.5(RAB18):c.592G>A (p.Ala198Thr) rs11015859 0.02882
NM_001081.4(CUBN):c.3417A>G (p.Leu1139=) rs1801228 0.02872
NM_002160.4(TNC):c.2562C>T (p.Asp854=) rs61739209 0.02872
NM_002473.6(MYH9):c.3100+11G>C rs41279999 0.02869
NM_000277.3(PAH):c.707-7A>T rs62508624 0.02868
NM_000782.5(CYP24A1):c.*438C>T rs16999060 0.02867
NM_000782.5(CYP24A1):c.1121T>C (p.Met374Thr) rs6022990 0.02863
NM_014363.6(SACS):c.1839G>A (p.Gln613=) rs35840595 0.02863
NM_000782.5(CYP24A1):c.*77T>G rs16999067 0.02858
NM_198428.3(BBS9):c.1284C>T (p.Thr428=) rs6964382 0.02858
NM_001692.4(ATP6V1B1):c.*12G>A rs77794859 0.02854
NM_014425.5(INVS):c.2402G>A (p.Gly801Glu) rs76868679 0.02854
NM_000277.3(PAH):c.-81C>T rs7954004 0.02852
NM_001023570.4(IQCB1):c.-193T>C rs114555283 0.02852
NM_000091.5(COL4A3):c.805G>A (p.Glu269Lys) rs80109666 0.02845
NM_001379286.1(ZNF423):c.1869G>A (p.Pro623=) rs16947741 0.02845
NM_015102.5(NPHP4):c.1631C>G (p.Ala544Gly) rs12093500 0.02840
NM_002473.6(MYH9):c.*312C>T rs16996639 0.02830
NM_002635.4(SLC25A3):c.*221T>G rs115173420 0.02826
NM_021252.5(RAB18):c.*3584C>T rs11015862 0.02826
NM_182961.4(SYNE1):c.12607G>A (p.Glu4203Lys) rs2130262 0.02821
NM_000067.3(CA2):c.754A>G (p.Asn252Asp) rs2228063 0.02817
NM_025074.7(FRAS1):c.6608C>T (p.Thr2203Ile) rs114373602 0.02814
NM_024753.5(TTC21B):c.*105G>A rs74548052 0.02812
NM_025074.7(FRAS1):c.6691G>A (p.Gly2231Arg) rs76623027 0.02812
NM_025074.7(FRAS1):c.6754G>A (p.Ala2252Thr) rs78404051 0.02812
NM_001145809.2(MYH14):c.474T>C (p.Ile158=) rs34796700 0.02809
NM_025074.7(FRAS1):c.6010+13C>T rs75774018 0.02805
NM_025074.7(FRAS1):c.6039T>C (p.Ser2013=) rs76472539 0.02805
NM_152618.3(BBS12):c.1847G>A (p.Ser616Asn) rs28507107 0.02805
NM_004560.4(ROR2):c.1710G>A (p.Pro570=) rs41277837 0.02804
NM_025074.7(FRAS1):c.6010+10G>A rs78537685 0.02804
NM_000067.3(CA2):c.*212A>G rs73263450 0.02796
NM_018136.5(ASPM):c.5083C>T (p.Arg1695Cys) rs80238010 0.02796
NM_014053.4(FLVCR1):c.*1751C>T rs187971996 0.02794
NM_001171.6(ABCC6):c.3871G>A (p.Ala1291Thr) rs58694313 0.02791
NM_004525.3(LRP2):c.7894A>G (p.Asn2632Asp) rs17848169 0.02788
NM_153717.3(EVC):c.939+11G>T rs55955937 0.02788
NM_012233.3(RAB3GAP1):c.*135C>G rs10170125 0.02787
NM_001145809.2(MYH14):c.5281C>A (p.Arg1761=) rs116035034 0.02785
NM_018075.5(ANO10):c.*196C>A rs73831274 0.02784
NM_001267550.2(TTN):c.36299A>T (p.Glu12100Val) rs73973133 0.02781
NM_000092.5(COL4A4):c.948T>C (p.Tyr316=) rs34509421 0.02777
NM_001379286.1(ZNF423):c.1910A>G (p.Asn637Ser) rs34214571 0.02773
NM_025074.7(FRAS1):c.682T>C (p.Tyr228His) rs7682296 0.02766
NM_025074.7(FRAS1):c.625C>T (p.Pro209Ser) rs7699637 0.02763
NM_194248.3(OTOF):c.158C>T (p.Ala53Val) rs1879761 0.02762
NM_014053.4(FLVCR1):c.1272T>C (p.Tyr424=) rs17677416 0.02755
NM_018075.5(ANO10):c.*444C>T rs114518528 0.02745
NM_014918.5(CHSY1):c.1473A>G (p.Gln491=) rs76457230 0.02740
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677 0.02738
NM_006846.4(SPINK5):c.531G>A (p.Arg177=) rs35121983 0.02736
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr) rs33958626 0.02731
NM_182961.4(SYNE1):c.26002-4A>G rs77220999 0.02717
NM_006765.4(TUSC3):c.912G>A (p.Ser304=) rs17121892 0.02710
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_024649.5(BBS1):c.*428G>C rs41302425 0.02701
NM_002473.6(MYH9):c.*137C>A rs114268057 0.02699
NM_002473.6(MYH9):c.*136C>A rs115869378 0.02697
NM_006005.3(WFS1):c.*567C>G rs12508118 0.02697
NM_000360.4(TH):c.186G>A (p.Ser62=) rs34510659 0.02696
NM_182961.4(SYNE1):c.12138G>A (p.Gln4046=) rs60344647 0.02693
NM_000466.3(PEX1):c.2584-20T>A rs111535201 0.02687
NM_182961.4(SYNE1):c.17339G>A (p.Arg5780Gln) rs76160752 0.02687
NM_025074.7(FRAS1):c.470-4C>G rs59429199 0.02676
NM_147127.5(EVC2):c.1059C>T (p.Gly353=) rs77793386 0.02666
NM_004525.3(LRP2):c.12151+4T>C rs17848192 0.02665
NM_025074.7(FRAS1):c.7758C>T (p.Ile2586=) rs77602894 0.02660
NM_213599.3(ANO5):c.2521-13A>G rs76850415 0.02660
NM_025074.7(FRAS1):c.7701G>A (p.Lys2567=) rs79849142 0.02656
NM_001127649.3(PEX26):c.*2878C>T rs116424707 0.02655
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693 0.02655
NM_001283009.2(RTEL1):c.2785G>A (p.Ala929Thr) rs61736615 0.02652
NM_000302.4(PLOD1):c.177C>T (p.Gly59=) rs34032489 0.02651
NM_004525.3(LRP2):c.11759-11T>G rs17848191 0.02650
NM_018972.4(GDAP1):c.*1647C>T rs115466662 0.02649
NM_004618.5(TOP3A):c.315-4C>G rs7217776 0.02640
NM_018451.5(CENPJ):c.163C>G (p.Pro55Ala) rs17081389 0.02639
NM_005982.4(SIX1):c.*602G>C rs78909843 0.02638
NM_052985.3(IFT122):c.-206A>G rs3138334 0.02635
NM_182961.4(SYNE1):c.16277C>T (p.Thr5426Met) rs2306914 0.02635
NM_153717.3(EVC):c.*1060A>C rs71599848 0.02627
NM_000302.4(PLOD1):c.250G>A (p.Ala84Thr) rs34878020 0.02621
NM_000760.4(CSF3R):c.692T>C (p.Met231Thr) rs3917973 0.02621
NM_020631.6(PLEKHG5):c.2576G>A (p.Arg859His) rs61737997 0.02621
NM_000360.4(TH):c.1401C>T (p.Asp467=) rs3842724 0.02616
NM_004407.4(DMP1):c.*457T>C rs6842411 0.02615
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln) rs34211915 0.02614
NM_001374623.1(PNPLA1):c.715-9C>T rs73421652 0.02610
NM_004407.4(DMP1):c.*329A>C rs6816379 0.02610
NM_000760.4(CSF3R):c.1037A>G (p.Gln346Arg) rs3917974 0.02609
NM_014053.4(FLVCR1):c.*377T>C rs41258034 0.02608
NM_001267550.2(TTN):c.8116+19G>A rs13011633 0.02607
NM_004415.4(DSP):c.1903+7T>C rs28763962 0.02605
NM_001127649.3(PEX26):c.*1608G>A rs116824049 0.02602
NM_001384474.1(LOXHD1):c.4531-19C>T rs117403100 0.02599
NM_014956.5(CEP164):c.4119C>T (p.Asn1373=) rs73016324 0.02599
NM_001039958.2(MESP2):c.671C>T (p.Ser224Phe) rs71647807 0.02596
NM_005982.4(SIX1):c.*404A>G rs76116881 0.02596
NM_006208.3(ENPP1):c.*3784T>C rs116417632 0.02593
NM_001127453.2(GSDME):c.*87A>G rs10266655 0.02589
NM_138691.3(TMC1):c.-540C>T rs112220638 0.02586
NM_014780.5(CUL7):c.4794G>A (p.Lys1598=) rs61437700 0.02584
NM_153676.4(USH1C):c.651A>G (p.Val217=) rs75977878 0.02584
NM_000163.5(GHR):c.*1790G>A rs2973016 0.02583
NM_000091.5(COL4A3):c.4041C>A (p.Asp1347Glu) rs73996414 0.02579
NM_001080414.4(CCDC88C):c.4975C>A (p.Arg1659=) rs150512553 0.02576
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818 0.02573
NM_182961.4(SYNE1):c.22452A>G (p.Ser7484=) rs36044575 0.02562
NM_194248.3(OTOF):c.766-3C>T rs55886964 0.02560
NM_000163.5(GHR):c.*692C>A rs17839373 0.02559
NM_024596.5(MCPH1):c.2400C>T (p.Tyr800=) rs7017210 0.02559
NM_002857.4(PEX19):c.*2417C>T rs193290301 0.02557
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met) rs35996821 0.02553
NM_000208.4(INSR):c.*1974_*1975del rs148930499 0.02551
NM_002857.4(PEX19):c.433-11G>T rs41265791 0.02551
NM_014956.5(CEP164):c.1430A>G (p.His477Arg) rs117083334 0.02549
NM_012448.4(STAT5B):c.1101C>A (p.Pro367=) rs61749920 0.02543
NM_033028.5(BBS4):c.405+17C>T rs80334351 0.02539
NM_000318.3(PEX2):c.733G>A (p.Ala245Thr) rs112108739 0.02536
NM_000466.3(PEX1):c.3439-14_3439-13del rs150005994 0.02536
NM_022464.5(SIL1):c.1029+6T>C rs57028146 0.02536
NM_004100.5(EYA4):c.*2302G>A rs41286208 0.02535
NM_001367624.2(ZNF469):c.4434C>T (p.Ser1478=) rs74032865 0.02534
NM_000123.4(ERCC5):c.767A>G (p.Gln256Arg) rs4150313 0.02531
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr) rs17325713 0.02528
NM_001379286.1(ZNF423):c.3850-9C>T rs78514142 0.02527
NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val) rs17883456 0.02527
NM_022464.5(SIL1):c.394A>C (p.Lys132Gln) rs61745568 0.02524
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479 0.02523
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu) rs72648986 0.02522
NM_000260.4(MYO7A):c.6240C>T (p.Ser2080=) rs41298757 0.02519
NM_000302.4(PLOD1):c.1329-20G>A rs78527487 0.02519
NM_153240.5(NPHP3):c.*785G>A rs6774366 0.02518
NM_000123.4(ERCC5):c.429C>G (p.Leu143=) rs4140390 0.02517
NM_207361.6(FREM2):c.1941C>T (p.Asp647=) rs41292751 0.02517
NM_207361.6(FREM2):c.4077T>A (p.Gly1359=) rs41292757 0.02517
NM_022095.4(ZNF335):c.3487+14G>C rs73622634 0.02516
NM_138691.3(TMC1):c.*183A>G rs71507808 0.02514
NM_004937.3(CTNS):c.*1578C>G rs142813435 0.02513
NM_015404.4(WHRN):c.-204C>G rs145985595 0.02512
NM_207361.6(FREM2):c.*5600G>T rs74793552 0.02508
NM_020631.6(PLEKHG5):c.2827G>C (p.Gly943Arg) rs114619322 0.02505
NM_001171.6(ABCC6):c.2175A>T (p.Val725=) rs59757815 0.02503
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys) rs114234874 0.02502
NM_001171.6(ABCC6):c.2224A>G (p.Ile742Val) rs59593133 0.02501
NM_004813.4(PEX16):c.303C>T (p.Ala101=) rs80275010 0.02501
NM_004525.3(LRP2):c.2006G>A (p.Gly669Asp) rs34291900 0.02496
NM_000092.5(COL4A4):c.4041A>G (p.Leu1347=) rs16823077 0.02492
NM_000123.4(ERCC5):c.*89G>A rs4150390 0.02491
NM_001130987.2(DYSF):c.2856G>A (p.Pro952=) rs34836829 0.02488
NM_201384.3(PLEC):c.5229G>A (p.Ala1743=) rs140406501 0.02486
NM_000123.4(ERCC5):c.760A>G (p.Met254Val) rs1047769 0.02485
NM_182961.4(SYNE1):c.6470A>G (p.Lys2157Arg) rs75989452 0.02484
NM_001081.4(CUBN):c.8635C>A (p.Leu2879Ile) rs1801238 0.02483
NM_001101426.4(CRPPA):c.407C>T (p.Ala136Val) rs61734789 0.02478
NM_006892.4(DNMT3B):c.1760-17C>T rs76661393 0.02476
NM_001143992.2(WRAP53):c.31C>T (p.Pro11Ser) rs17880282 0.02475
NM_003193.5(TBCE):c.614T>C (p.Val205Ala) rs16832611 0.02475
NM_006892.4(DNMT3B):c.1878C>T (p.Asn626=) rs17123655 0.02475
NM_004393.6(DAG1):c.41= (p.Ser14=) rs1553648360 0.02474
NM_000271.5(NPC1):c.1947+17T>G rs879174633 0.02464
NM_170784.3(MKKS):c.*38A>G rs79940214 0.02456
NM_170784.3(MKKS):c.*46G>T rs74703166 0.02454
NM_000260.4(MYO7A):c.5326+13C>T rs114157944 0.02453
NM_022089.4(ATP13A2):c.3235+17G>A rs56146840 0.02453
NM_004415.4(DSP):c.273+10C>T rs56148603 0.02451
NM_001194998.2(CEP152):c.191+11G>A rs75503597 0.02449
NM_001042545.2(LTBP4):c.1834C>G (p.Pro612Ala) rs34299942 0.02447
NM_003193.5(TBCE):c.1226A>G (p.Glu409Gly) rs16832619 0.02446
NM_017433.5(MYO3A):c.4848C>G (p.Ser1616=) rs56316209 0.02444
NM_006846.4(SPINK5):c.2915A>G (p.His972Arg) rs17705005 0.02442
NM_025074.7(FRAS1):c.*751T>G rs6832584 0.02441
NM_032119.4(ADGRV1):c.9771C>T (p.Ser3257=) rs16869039 0.02440
NM_001127649.3(PEX26):c.*1003T>G rs79085553 0.02437
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met) rs45500692 0.02436
NM_016373.4(WWOX):c.547G>A (p.Asp183Asn) rs74944733 0.02435
NM_000441.2(SLC26A4):c.1708-18T>A rs55701254 0.02432
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr) rs35683768 0.02431
NM_002618.4(PEX13):c.1078C>G (p.Leu360Val) rs74350038 0.02423
NM_000506.5(F2):c.79+7G>A rs3136431 0.02419
NM_022124.6(CDH23):c.6492C>T (p.Ile2164=) rs41281332 0.02419
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala) rs17078601 0.02418
NM_001256317.3(TMPRSS3):c.-51-7G>C rs4920100 0.02415
NM_194248.3(OTOF):c.4341G>A (p.Glu1447=) rs80214437 0.02415
NM_000091.5(COL4A3):c.933+14T>C rs55928538 0.02412
NM_000082.4(ERCC8):c.173+1158A>G rs4647068 0.02409
NM_006208.3(ENPP1):c.*3625G>A rs150482147 0.02409
NM_001267550.2(TTN):c.25626G>T (p.Gln8542His) rs2562832 0.02406
NM_182961.4(SYNE1):c.7556+14A>G rs78034368 0.02406
NM_022095.4(ZNF335):c.3187C>A (p.Arg1063=) rs11905235 0.02405
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040 0.02403
NM_000082.4(ERCC8):c.-23T>G rs4647038 0.02401
NM_001267550.2(TTN):c.25707T>C (p.Tyr8569=) rs2742329 0.02401
NM_001134831.2(AHI1):c.2223T>C (p.Asp741=) rs2273761 0.02399
NM_001145809.2(MYH14):c.4753-9C>T rs45591233 0.02396
NM_021252.5(RAB18):c.*3129C>T rs78270485 0.02396
NM_000318.3(PEX2):c.*458G>A rs143201132 0.02392
NM_018063.5(HELLS):c.270A>G (p.Gln90=) rs58643119 0.02391
NM_002855.5(NECTIN1):c.*537C>T rs114119887 0.02390
NM_020632.3(ATP6V0A4):c.512+4A>G rs78194949 0.02390
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459 0.02390
NM_001384140.1(PCDH15):c.960A>G (p.Pro320=) rs41274634 0.02389
NM_001267550.2(TTN):c.45526C>T (p.Leu15176=) rs61004744 0.02387
NM_173477.5(USH1G):c.*63C>T rs113765180 0.02386
NM_000260.4(MYO7A):c.4589C>T (p.Ser1530Leu) rs111033183 0.02384
NM_148919.4(PSMB8):c.22G>A (p.Gly8Arg) rs114772012 0.02384
NM_001384474.1(LOXHD1):c.2T>A (p.Met1Lys) rs36024592 0.02382
NM_206933.4(USH2A):c.15377T>C (p.Ile5126Thr) rs111033266 0.02380
NM_000260.4(MYO7A):c.3828G>A (p.Ser1276=) rs78871677 0.02377
NM_032119.4(ADGRV1):c.327C>T (p.Asp109=) rs61753944 0.02377
NM_004565.3(PEX14):c.475G>A (p.Val159Met) rs74052157 0.02375
NM_003383.5(VLDLR):c.24G>A (p.Ala8=) rs34336270 0.02372
NM_025074.7(FRAS1):c.6010+8A>G rs7670555 0.02371
NM_001267550.2(TTN):c.22786G>C (p.Asp7596His) rs72648970 0.02369
NM_000492.4(CFTR):c.3468+2109T>C rs213982 0.02368
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu) rs13021201 0.02363
NM_001127649.3(PEX26):c.*2701G>C rs114075265 0.02360
NM_001386140.1(MTTP):c.*113G>C rs112407688 0.02360
NM_032119.4(ADGRV1):c.8876G>A (p.Arg2959Gln) rs73175207 0.02358
NM_201384.3(PLEC):c.10046C>T (p.Thr3349Met) rs34725742 0.02357
NM_001386140.1(MTTP):c.1981G>A (p.Gly661Ser) rs113337987 0.02355
NM_001081.4(CUBN):c.2791+14C>T rs111781659 0.02354
NM_152617.4(RNF168):c.972G>A (p.Glu324=) rs35405598 0.02354
NM_001386140.1(MTTP):c.660T>C (p.Tyr220=) rs113557405 0.02353
NM_001267550.2(TTN):c.52917T>C (p.Asp17639=) rs73036398 0.02352
NM_001044385.3(TMEM237):c.9T>G (p.Thr3=) rs6736435 0.02349
NM_018075.5(ANO10):c.486C>T (p.Leu162=) rs34829628 0.02348
NM_014053.4(FLVCR1):c.*891A>G rs41301029 0.02342
NM_032119.4(ADGRV1):c.11472G>A (p.Leu3824=) rs74327115 0.02341
NM_005807.6(PRG4):c.1737T>C (p.Thr579=) rs778925933 0.02340
NM_022098.4(XPNPEP3):c.*4702G>A rs5758133 0.02338
NM_024989.4(PGAP1):c.534T>G (p.Leu178=) rs35444896 0.02335
NM_000543.5(SMPD1):c.*74A>C rs1803160 0.02334
NM_201384.3(PLEC):c.5316G>A (p.Ala1772=) rs62642466 0.02329
NM_000302.4(PLOD1):c.*71C>G rs2230899 0.02327
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) rs79134187 0.02323
NM_012463.4(ATP6V0A2):c.*1600G>A rs58028686 0.02320
NM_001367624.2(ZNF469):c.11409G>C (p.Gly3803=) rs150233193 0.02319
NM_002473.6(MYH9):c.3838-8C>T rs145429636 0.02315
NM_032492.4(JAGN1):c.244A>G (p.Ile82Val) rs35365817 0.02315
NM_004153.4(ORC1):c.568G>A (p.Val190Met) rs3087477 0.02312
NM_001048174.2(MUTYH):c.115+30A>G rs3219485 0.02310
NM_032119.4(ADGRV1):c.5346A>G (p.Gly1782=) rs10067298 0.02309
NM_153717.3(EVC):c.*1375A>G rs114994758 0.02309
NM_052989.3(IFT122):c.109-15T>C rs114298924 0.02307
NM_145861.4(EDARADD):c.60G>A (p.Glu20=) rs60808129 0.02304
NM_021628.3(ALOXE3):c.785-14C>T rs113539426 0.02299
NM_153676.4(USH1C):c.294C>T (p.Leu98=) rs34055234 0.02295
NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn) rs11896293 0.02293
NM_001692.4(ATP6V1B1):c.118+18C>T rs35768563 0.02289
NM_000414.4(HSD17B4):c.1791C>T (p.Val597=) rs2560722 0.02288
NM_001199107.2(TBC1D24):c.1440G>A (p.Ser480=) rs12373107 0.02286
NM_000334.4(SCN4A):c.3720+10A>G rs111679484 0.02281
NM_001161403.3(LIMS2):c.189C>T (p.Tyr63=) rs35765118 0.02278
NM_000092.5(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949 0.02275
NM_005219.5(DIAPH1):c.3579C>T (p.Gly1193=) rs2302102 0.02275
NM_002618.4(PEX13):c.*775G>A rs143032208 0.02272
NM_021628.3(ALOXE3):c.-99C>G rs112227180 0.02269
NM_001194998.2(CEP152):c.161C>T (p.Ser54Leu) rs2289181 0.02268
NM_001081.4(CUBN):c.196G>A (p.Gly66Arg) rs12259370 0.02267
NM_001367624.2(ZNF469):c.10975G>A (p.Gly3659Arg) rs3812951 0.02265
NM_020661.4(AICDA):c.*1694A>G rs75351379 0.02262
NM_005422.4(TECTA):c.4422C>T (p.Asn1474=) rs33981325 0.02261
NM_014797.3(ZBTB24):c.579G>A (p.Gln193=) rs2227263 0.02261
NM_025074.7(FRAS1):c.6252C>T (p.Asn2084=) rs114956797 0.02261
NM_001378454.1(ALMS1):c.5786G>A (p.Arg1929Gln) rs17009061 0.02260
NM_001077418.3(TMEM231):c.582+8C>G rs144252983 0.02257
NM_015102.5(NPHP4):c.2219G>A (p.Arg740His) rs34248917 0.02256
NM_001173990.3(TMEM216):c.*444T>C rs116047887 0.02253
NM_002857.4(PEX19):c.*2637G>A rs41265787 0.02253
NM_001042472.3(ABHD12):c.-94C>T rs536190889 0.02252
NM_001378454.1(ALMS1):c.4962G>T (p.Lys1654Asn) rs28730853 0.02251
NM_017755.6(NSUN2):c.22C>T (p.Arg8Trp) rs181415619 0.02251
NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser) rs1143650 0.02248
NM_001267550.2(TTN):c.26991A>G (p.Thr8997=) rs61232800 0.02248
NM_001378454.1(ALMS1):c.10209T>A (p.Thr3403=) rs34617744 0.02246
NM_000337.6(SGCD):c.*7596A>G rs80115276 0.02244
NM_032119.4(ADGRV1):c.7229A>G (p.Tyr2410Cys) rs111033430 0.02235
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val) rs13407355 0.02232
NM_000337.6(SGCD):c.700-19T>C rs80086857 0.02231
NM_001083961.2(WDR62):c.3674G>A (p.Arg1225His) rs61743589 0.02230
NM_206933.4(USH2A):c.14481C>T (p.Ala4827=) rs41304083 0.02229
NM_003701.4(TNFSF11):c.*383C>T rs9567000 0.02228
NM_004836.7(EIF2AK3):c.-172C>T rs71414432 0.02228
NM_014028.4(OSTM1):c.*3329A>G rs112424495 0.02226
NM_022124.6(CDH23):c.1134+13A>G rs7903502 0.02225
NM_206933.4(USH2A):c.7300+29A>G rs41277208 0.02225
NM_001351132.2(PEX5):c.815T>C (p.Met272Thr) rs76708142 0.02223
NM_014028.4(OSTM1):c.*3319T>G rs112919802 0.02222
NM_015702.3(MMADHC):c.-49T>C rs79997772 0.02222
NM_133378.4(TTN):c.93062-10T>C rs202214630 0.02222
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02218
NM_000124.4(ERCC6):c.4322C>T (p.Thr1441Ile) rs4253230 0.02217
NM_182961.4(SYNE1):c.*583A>G rs3756933 0.02216
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) rs34954751 0.02208
NM_033064.5(ATCAY):c.*1036G>C rs73919394 0.02206
NM_001382391.1(CSPP1):c.3313T>C (p.Trp1105Arg) rs1808140 0.02204
NM_002860.4(ALDH18A1):c.1029T>C (p.Ile343=) rs41291566 0.02201
NM_013335.4(GMPPA):c.945G>A (p.Glu315=) rs13428617 0.02201
NM_025074.7(FRAS1):c.*78G>T rs77632937 0.02198
NM_000019.4(ACAT1):c.-15C>G rs113348145 0.02192
NM_001267550.2(TTN):c.36203-9T>C rs2562849 0.02192
NM_001267550.2(TTN):c.38880A>G (p.Pro12960=) rs2742354 0.02192
NM_138694.4(PKHD1):c.*3025C>T rs2771012 0.02192
NM_001267550.2(TTN):c.41508T>C (p.Ala13836=) rs55847232 0.02188
NM_002857.4(PEX19):c.*898A>G rs8989 0.02188
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997 0.02188
NM_001267550.2(TTN):c.45738T>C (p.Ala15246=) rs2303829 0.02187
NM_022168.4(IFIH1):c.2305-19T>C rs74162085 0.02187
NM_022168.4(IFIH1):c.2455-7T>A rs41399348 0.02185
NM_201384.3(PLEC):c.8050C>T (p.Arg2684Trp) rs35723243 0.02185
NM_022168.4(IFIH1):c.2454+6T>C rs6748554 0.02184
NM_012463.4(ATP6V0A2):c.*2877T>A rs77765053 0.02183
NM_182961.4(SYNE1):c.12442G>C (p.Asp4148His) rs117501809 0.02182
NM_000260.4(MYO7A):c.288G>A (p.Thr96=) rs56023295 0.02179
NM_001161403.3(LIMS2):c.803-14C>T rs115873946 0.02177
NM_012463.4(ATP6V0A2):c.*2357C>T rs117222175 0.02177
NM_025077.4(TOE1):c.52+77G>A rs3219466 0.02177
NM_207361.6(FREM2):c.8226C>T (p.Ala2742=) rs17058710 0.02172
NM_015404.4(WHRN):c.*438T>G rs114641960 0.02166
NM_001367624.2(ZNF469):c.4406A>G (p.Tyr1469Cys) rs116072997 0.02164
NM_022336.4(EDAR):c.*895C>T rs115259025 0.02162
NM_001256317.3(TMPRSS3):c.432A>G (p.Gln144=) rs61731564 0.02161
NM_001267550.2(TTN):c.15717G>A (p.Thr5239=) rs72648932 0.02158
NM_182961.4(SYNE1):c.2527C>T (p.Arg843Cys) rs34610829 0.02158
NM_006397.3(RNASEH2A):c.777C>T (p.Ser259=) rs76634951 0.02157
NM_001367624.2(ZNF469):c.2913C>A (p.Gly971=) rs60462217 0.02154
NM_005422.4(TECTA):c.3012C>G (p.Thr1004=) rs61291716 0.02153
NM_145861.4(EDARADD):c.308C>T (p.Ser103Phe) rs114632254 0.02153
NM_018451.5(CENPJ):c.187G>C (p.Asp63His) rs7336216 0.02151
NM_182961.4(SYNE1):c.11621A>C (p.Lys3874Thr) rs13210127 0.02151
NM_012099.3(POLR1G):c.844A>G (p.Thr282Ala) rs3212989 0.02148
NM_001378454.1(ALMS1):c.9907+20C>T rs74730457 0.02147
NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln) rs77298332 0.02147
NM_213599.3(ANO5):c.1120-24A>T rs11026476 0.02147
NM_001267550.2(TTN):c.93387C>T (p.Ser31129=) rs35445420 0.02143
NM_001329943.3(KIAA0586):c.4461T>C (p.Ile1487=) rs11611 0.02142
NM_000287.4(PEX6):c.207C>T (p.Pro69=) rs11539736 0.02141
NM_001384140.1(PCDH15):c.3718-19C>A rs75248212 0.02141
NM_001367624.2(ZNF469):c.3650C>T (p.Pro1217Leu) rs115183769 0.02140
NM_000557.5(GDF5):c.*193G>T rs114832948 0.02139
NM_004813.4(PEX16):c.*438C>T rs2280328 0.02139
NM_015046.7(SETX):c.*561A>C rs73661150 0.02138
NM_147127.5(EVC2):c.3557+10G>A rs116218656 0.02138
NM_005422.4(TECTA):c.4751G>C (p.Ser1584Thr) rs34963131 0.02137
NM_000414.4(HSD17B4):c.420A>T (p.Lys140Asn) rs28943589 0.02134
NM_025074.7(FRAS1):c.7633G>A (p.Asp2545Asn) rs4388111 0.02134
NM_182961.4(SYNE1):c.3960A>G (p.Thr1320=) rs138705766 0.02134
NM_000091.5(COL4A3):c.399G>A (p.Gly133=) rs75683214 0.02133
NM_001267550.2(TTN):c.*664G>T rs72629796 0.02133
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile) rs55675869 0.02132
NM_022124.6(CDH23):c.6249G>A (p.Pro2083=) rs55964031 0.02131
NM_000260.4(MYO7A):c.4023C>T (p.Pro1341=) rs73495790 0.02130
NM_000302.4(PLOD1):c.1788G>T (p.Val596=) rs35460537 0.02126
NM_000334.4(SCN4A):c.*1611A>G rs16947280 0.02126
NM_001384140.1(PCDH15):c.3374-4C>T rs111739360 0.02123
NM_000760.4(CSF3R):c.958G>A (p.Asp320Asn) rs3918018 0.02119
NM_014780.5(CUL7):c.2555G>A (p.Arg852Gln) rs34574340 0.02119
NM_005708.5(GPC6):c.*338A>C rs7327686 0.02117
NM_004086.3(COCH):c.*407C>T rs7152503 0.02116
NM_006892.4(DNMT3B):c.-274C>T rs139762513 0.02116
NM_001267550.2(TTN):c.43488G>A (p.Arg14496=) rs56034831 0.02114
NM_021628.3(ALOXE3):c.*111T>C rs75605551 0.02113
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000302.4(PLOD1):c.2133C>G (p.Leu711=) rs879691 0.02109
NM_001267550.2(TTN):c.12117C>T (p.Pro4039=) rs55895721 0.02109
NM_032119.4(ADGRV1):c.10039T>C (p.Phe3347Leu) rs10067636 0.02108
NM_020964.3(EPG5):c.3248C>T (p.Ser1083Leu) rs78339727 0.02107
NM_000557.5(GDF5):c.-135G>A rs73094730 0.02106
NM_001267550.2(TTN):c.67635T>C (p.Val22545=) rs2288570 0.02106
NM_015046.7(SETX):c.498+20G>A rs73659013 0.02106
NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser) rs34927702 0.02105
NM_006642.5(SDCCAG8):c.912C>T (p.Thr304=) rs976529 0.02103
NM_001378454.1(ALMS1):c.11523G>A (p.Glu3841=) rs35760114 0.02099
NM_005708.5(GPC6):c.*2407A>T rs73553865 0.02098
NM_020779.4(WDR35):c.*2836C>T rs74469198 0.02096
NM_138694.4(PKHD1):c.1694-32C>G rs12196276 0.02096
NM_001122769.3(LCA5):c.197G>A (p.Arg66Gln) rs35338066 0.02087
NM_000287.4(PEX6):c.2644G>A (p.Val882Ile) rs2274516 0.02086
NM_015046.7(SETX):c.6936-27T>G rs2296866 0.02083
NM_001267550.2(TTN):c.52821T>C (p.Asp17607=) rs2303831 0.02082
NM_016239.4(MYO15A):c.2462A>C (p.Gln821Pro) rs372125621 0.02081
NM_001267550.2(TTN):c.42071A>G (p.His14024Arg) rs2288563 0.02080
NM_000441.2(SLC26A4):c.2130C>T (p.Asp710=) rs17154347 0.02079
NM_015294.6(TRIM37):c.-224A>G rs11541295 0.02079
NM_031885.5(BBS2):c.1511C>T (p.Ala504Val) rs16957538 0.02076
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=) rs2303607 0.02075
NM_018718.3(CEP41):c.*927T>C rs73152870 0.02074
NM_021252.5(RAB18):c.*757G>T rs76051289 0.02074
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile) rs2303832 0.02072
NM_000334.4(SCN4A):c.2989+5G>A rs115695396 0.02066
NM_004525.3(LRP2):c.*253T>C rs61116673 0.02066
NM_139319.3(SLC17A8):c.*817A>T rs56156523 0.02065
NM_016938.5(EFEMP2):c.-113C>T rs188624478 0.02060
NM_001267550.2(TTN):c.36318A>G (p.Lys12106=) rs2115557 0.02057
NM_001384474.1(LOXHD1):c.966G>C (p.Gly322=) rs114082868 0.02057
NM_001267550.2(TTN):c.24880A>G (p.Arg8294Gly) rs72648982 0.02056
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=) rs73277900 0.02056
NM_001267550.2(TTN):c.51684G>A (p.Ala17228=) rs2288566 0.02055
NM_025114.4(CEP290):c.251-10A>T rs190383141 0.02052
NM_006005.3(WFS1):c.*333C>A rs111800114 0.02051
NM_138694.4(PKHD1):c.1234-39C>G rs115660674 0.02051
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698 0.02050
NM_001199107.2(TBC1D24):c.1143-6C>T rs73490287 0.02047
NM_002160.4(TNC):c.1813G>A (p.Val605Ile) rs3827816 0.02047
NM_022124.6(CDH23):c.3664G>A (p.Ala1222Thr) rs41281316 0.02047
NM_020964.3(EPG5):c.3385-20C>T rs6507647 0.02046
NM_000180.4(GUCY2D):c.3225-7C>T rs79887212 0.02045
NM_018136.5(ASPM):c.*60C>T rs1537318 0.02044
NM_001127671.2(LIFR):c.*1554C>G rs1428604 0.02039
NM_206933.4(USH2A):c.573A>G (p.Val191=) rs73102592 0.02039
NM_022336.4(EDAR):c.*999C>T rs10206737 0.02037
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995 0.02035
NM_000180.4(GUCY2D):c.3297G>A (p.Pro1099=) rs142351773 0.02033
NM_000254.3(MTR):c.3665A>G (p.Asn1222Ser) rs61739582 0.02033
NM_018319.4(TDP1):c.*539G>A rs35090050 0.02032
NM_005529.7(HSPG2):c.1776C>T (p.His592=) rs62642536 0.02028
NM_006996.3(SLC19A2):c.1215G>A (p.Thr405=) rs61049753 0.02028
NM_032119.4(ADGRV1):c.581C>A (p.Pro194His) rs61745498 0.02028
NM_002485.5(NBN):c.2082T>G (p.Pro694=) rs7823648 0.02020
NM_015102.5(NPHP4):c.*314T>G rs111874674 0.02020
NM_001081.4(CUBN):c.7724C>G (p.Pro2575Arg) rs3740168 0.02019
NM_000163.5(GHR):c.1473C>T (p.Ser491=) rs6176 0.02017
NM_001367624.2(ZNF469):c.6777G>A (p.Glu2259=) rs76442115 0.02017
NM_001367624.2(ZNF469):c.6779A>G (p.Lys2260Arg) rs75136873 0.02017
NM_012463.4(ATP6V0A2):c.*3235A>G rs7310965 0.02017
NM_206933.4(USH2A):c.6875G>A (p.Arg2292His) rs41277210 0.02015
NM_002292.4(LAMB2):c.306C>T (p.Asn102=) rs79448908 0.02014
NM_017739.4(POMGNT1):c.1540-16C>T rs10493123 0.02014
NM_001267550.2(TTN):c.86811A>G (p.Val28937=) rs55972010 0.02012
NM_207361.6(FREM2):c.8885C>T (p.Ala2962Val) rs7996253 0.02012
NM_000271.5(NPC1):c.1554-1021A>T rs73392141 0.02008
NM_000208.4(INSR):c.*224C>T rs2860171 0.02007
NM_001077365.2(POMT1):c.1275A>G (p.Glu425=) rs62620174 0.02004
NM_018136.5(ASPM):c.3391-14G>T rs80058948 0.02003
NM_016219.5(MAN1B1):c.*157C>G rs61545361 0.02001
NM_001081.4(CUBN):c.2791+6A>C rs78549445 0.01999
NM_001267550.2(TTN):c.92901C>T (p.Ser30967=) rs11694623 0.01999
NM_014053.4(FLVCR1):c.*855T>C rs564661630 0.01999
NM_001267550.2(TTN):c.87669T>C (p.His29223=) rs72648229 0.01997
NM_001267550.2(TTN):c.87087T>C (p.Leu29029=) rs12621078 0.01996
NM_001083961.2(WDR62):c.2312A>G (p.Lys771Arg) rs61747277 0.01994
NM_005866.4(SIGMAR1):c.153G>A (p.Gly51=) rs12115733 0.01994
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His) rs3813245 0.01993
NM_013382.7(POMT2):c.*1087C>T rs59725094 0.01993
NM_001267550.2(TTN):c.77638A>G (p.Thr25880Ala) rs56018860 0.01992
NM_001267550.2(TTN):c.91852+8T>A rs56145100 0.01992
NM_001267550.2(TTN):c.95047A>G (p.Ser31683Gly) rs72648257 0.01992
NM_001077365.2(POMT1):c.*529G>A rs116005066 0.01991
NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr) rs3731745 0.01991
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala) rs41277212 0.01991
NM_001267550.2(TTN):c.77279A>G (p.Asn25760Ser) rs3813246 0.01989
NM_001267550.2(TTN):c.80799C>A (p.Thr26933=) rs3813247 0.01986
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile) rs56309296 0.01985
NM_000211.5(ITGB2):c.1893C>T (p.Cys631=) rs17004713 0.01984
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr) rs56365600 0.01984
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys) rs56057221 0.01984
NM_001267550.2(TTN):c.95553C>T (p.Ser31851=) rs72648260 0.01980
NM_015311.3(OBSL1):c.-42T>C rs879691022 0.01980
NM_001267550.2(TTN):c.81855C>T (p.Ile27285=) rs56214710 0.01979
NM_000553.6(WRN):c.1155G>A (p.Glu385=) rs2230010 0.01974
NM_032119.4(ADGRV1):c.2001T>C (p.Asp667=) rs9293547 0.01974
NM_000760.4(CSF3R):c.105C>A (p.Ile35=) rs3917954 0.01973
NM_173477.5(USH1G):c.*1112C>T rs114353953 0.01972
NM_001142301.1(TMEM67):c.-200G>C rs79833026 0.01971
NM_001146079.2(CLDN14):c.633C>T (p.Tyr211=) rs61745291 0.01969
NM_032119.4(ADGRV1):c.7576A>G (p.Ile2526Val) rs75191159 0.01965
NM_004525.3(LRP2):c.6045C>T (p.Ala2015=) rs34834388 0.01962
NM_000334.4(SCN4A):c.3759C>T (p.Ala1253=) rs72851170 0.01961
NM_000211.5(ITGB2):c.31C>T (p.Leu11=) rs5030667 0.01960
NM_002700.3(POU4F3):c.837G>T (p.Thr279=) rs6885298 0.01958
NM_001267550.2(TTN):c.18903C>T (p.Thr6301=) rs72648950 0.01956
NM_015311.3(OBSL1):c.4117G>A (p.Glu1373Lys) rs140214067 0.01955
NM_000302.4(PLOD1):c.77-3407C>T rs75220940 0.01953
NM_000180.4(GUCY2D):c.1119G>A (p.Val373=) rs56034424 0.01951
NM_000337.6(SGCD):c.295-40T>A rs74571343 0.01950
NM_014797.3(ZBTB24):c.1389C>G (p.Ser463=) rs2232447 0.01949
NM_033064.5(ATCAY):c.*507G>C rs116813246 0.01949
NM_001127671.2(LIFR):c.*4804C>T rs55917124 0.01942
NM_002292.4(LAMB2):c.5293G>A (p.Ala1765Thr) rs74951356 0.01940
NM_018081.2(WRAP53):c.-245G>C rs17883670 0.01940
NM_138694.4(PKHD1):c.8950+44A>G rs58823342 0.01939
NM_001044385.3(TMEM237):c.395+7A>G rs78297522 0.01932
NM_021252.5(RAB18):c.*3939A>T rs1047915 0.01932
NM_152618.3(BBS12):c.378G>T (p.Glu126Asp) rs309369 0.01932
NM_017791.3(FLVCR2):c.*991T>C rs117346030 0.01931
NM_022336.4(EDAR):c.*328G>A rs75703116 0.01927
NM_207361.6(FREM2):c.*1694A>G rs17443589 0.01925
NM_014956.5(CEP164):c.3927C>T (p.Thr1309=) rs115051850 0.01922
NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser) rs72650006 0.01917
NM_201384.3(PLEC):c.342+13G>A rs115664009 0.01917
NM_014321.4(ORC6):c.675T>C (p.Asp225=) rs34343511 0.01913
NM_138694.4(PKHD1):c.5236+14A>G rs12210725 0.01912
NM_000260.4(MYO7A):c.6640G>A (p.Gly2214Ser) rs111033231 0.01911
NM_000091.5(COL4A3):c.988-80T>C rs56326869 0.01910
NM_005529.7(HSPG2):c.6114C>G (p.Ile2038Met) rs116788687 0.01908
NM_000260.4(MYO7A):c.4950C>T (p.Asn1650=) rs80033599 0.01906
NM_016239.4(MYO15A):c.4533C>T (p.Ala1511=) rs114328138 0.01906
NM_032119.4(ADGRV1):c.12592G>A (p.Val4198Met) rs2460169 0.01906
NM_000543.5(SMPD1):c.106_107insCGC (p.Val36delinsAlaLeu) rs767539123 0.01904
NM_000208.4(INSR):c.2643C>T (p.Ile881=) rs2229432 0.01903
NM_000208.4(INSR):c.2542+3A>G rs13306451 0.01900
NM_001379286.1(ZNF423):c.3351G>A (p.Pro1117=) rs113531514 0.01899
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala) rs34154371 0.01899
NM_002160.4(TNC):c.2207A>G (p.Asp736Gly) rs61735551 0.01898
NM_020779.4(WDR35):c.*2408G>C rs112569580 0.01898
NM_018075.5(ANO10):c.788G>A (p.Arg263His) rs41289586 0.01896
NM_206933.4(USH2A):c.13297G>T (p.Val4433Leu) rs111033381 0.01895
NM_000260.4(MYO7A):c.*363A>C rs115872143 0.01894
NM_025074.7(FRAS1):c.3068G>A (p.Gly1023Glu) rs17459809 0.01892
NM_014425.5(INVS):c.616-19T>C rs78038572 0.01891
NM_000302.4(PLOD1):c.540G>A (p.Gln180=) rs35958757 0.01887
NM_000162.5(GCK):c.*797C>T rs2908276 0.01885
NM_001145809.2(MYH14):c.3749C>A (p.Ala1250Glu) rs11669191 0.01884
NM_016219.5(MAN1B1):c.590C>T (p.Pro197Leu) rs61744585 0.01884
NM_000260.4(MYO7A):c.6052-11G>C rs112564978 0.01883
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile) rs35641839 0.01879
NM_002485.5(NBN):c.1914+9C>T rs13312938 0.01874
NM_025074.7(FRAS1):c.3124G>A (p.Ala1042Thr) rs114077522 0.01873
NM_001267550.2(TTN):c.24909G>A (p.Lys8303=) rs72648983 0.01872
NM_004937.3(CTNS):c.124G>A (p.Val42Ile) rs35086888 0.01867
NM_001267550.2(TTN):c.37461A>T (p.Glu12487Asp) rs200021871 0.01863
NM_006892.4(DNMT3B):c.1996+6C>T rs77355896 0.01863
NM_016464.5(TMEM138):c.261G>A (p.Val87=) rs35245221 0.01861
NM_147127.5(EVC2):c.3660-18C>A rs6853237 0.01859
NM_032575.3(GLIS2):c.223G>T (p.Ala75Ser) rs72766563 0.01854
NM_000254.3(MTR):c.940G>A (p.Asp314Asn) rs2229274 0.01853
NM_000208.4(INSR):c.2448G>A (p.Thr816=) rs2229434 0.01850
NM_000243.3(MEFV):c.-614C>G rs11466012 0.01850
NM_000019.3(ACAT1):c.*555A>G rs111376037 0.01843
NM_000543.5(SMPD1):c.1749G>A (p.Ser583=) rs35098198 0.01843
NM_001171.6(ABCC6):c.662+12C>T rs1555520951 0.01842
NM_001127649.3(PEX26):c.*400C>T rs74988725 0.01840
NM_001127649.3(PEX26):c.*692T>C rs79936154 0.01840
NM_015046.7(SETX):c.6106+14G>A rs73661157 0.01840
NM_002180.2(IGHMBP2):c.-68T>C rs57258566 0.01836
NM_001127649.3(PEX26):c.*943G>A rs79785382 0.01835
NM_025074.7(FRAS1):c.981+9C>T rs112081709 0.01835
NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile) rs35445653 0.01835
NM_001267550.2(TTN):c.45206A>T (p.Glu15069Val) rs114331773 0.01832
NM_031942.5(CDCA7):c.1077C>G (p.Thr359=) rs116079323 0.01832
NM_138694.4(PKHD1):c.8108-16G>C rs73442356 0.01832
NM_001267550.2(TTN):c.49648+16T>C rs57677875 0.01831
NM_025132.4(WDR19):c.1357-10T>C rs16995189 0.01827
NM_207361.6(FREM2):c.6606G>A (p.Glu2202=) rs61749310 0.01827
NM_153240.5(NPHP3):c.864T>A (p.Thr288=) rs147932449 0.01825
NM_002454.3(MTRR):c.1536C>T (p.Ser512=) rs34172797 0.01824
NM_153700.2(STRC):c.4035G>C (p.Leu1345=) rs143345370 0.01824
NM_001077418.3(TMEM231):c.582+3A>G rs114290622 0.01823
NM_001267550.2(TTN):c.-108G>A rs13422986 0.01823
NM_004813.4(PEX16):c.307G>A (p.Val103Met) rs11553094 0.01821
NM_005708.5(GPC6):c.*385G>A rs7325795 0.01818
NM_014028.4(OSTM1):c.221C>G (p.Pro74Arg) rs141735624 0.01817
NM_000208.4(INSR):c.*1432C>T rs111557734 0.01814
NM_020779.4(WDR35):c.*3268C>T rs113280329 0.01807
NM_018136.5(ASPM):c.2419+12G>A rs77191836 0.01806
NM_000082.4(ERCC8):c.*458T>C rs4647156 0.01803
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060 0.01800
NM_020779.4(WDR35):c.*1479C>T rs77400381 0.01800
NM_000782.5(CYP24A1):c.-94A>G rs74424092 0.01798
NM_001267550.2(TTN):c.10850C>T (p.Ser3617Phe) rs57389274 0.01798
NM_015311.3(OBSL1):c.4032C>G (p.Pro1344=) rs112751766 0.01798
NM_000281.4(PCBD1):c.*253T>A rs77029400 0.01796
NM_001367624.2(ZNF469):c.6944C>G (p.Pro2315Arg) rs77490207 0.01795
NM_000334.4(SCN4A):c.726C>T (p.Ala242=) rs73326368 0.01791
NM_001017420.3(ESCO2):c.*141T>C rs200666958 0.01790
NM_000083.3(CLCN1):c.2244G>A (p.Leu748=) rs78085922 0.01785
NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg) rs115517108 0.01785
NM_004525.3(LRP2):c.4344C>G (p.Ala1448=) rs35297090 0.01784
NM_001267550.2(TTN):c.542G>A (p.Ser181Asn) rs72647843 0.01782
NM_000543.5(SMPD1):c.*91C>T rs12273714 0.01778
NM_153717.3(EVC):c.*2277G>C rs28452978 0.01778
NM_006208.3(ENPP1):c.*477A>T rs113086095 0.01777
NM_024753.5(TTC21B):c.1417C>T (p.Leu473Phe) rs2163649 0.01776
NM_000070.3(CAPN3):c.78G>A (p.Pro26=) rs62642519 0.01774
NM_001367624.2(ZNF469):c.5697C>T (p.Ser1899=) rs111986360 0.01774
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu) rs34071195 0.01772
NM_213599.3(ANO5):c.2259A>G (p.Ser753=) rs61746201 0.01772
NM_001378454.1(ALMS1):c.5169A>G (p.Gln1723=) rs75434052 0.01769
NM_014780.5(CUL7):c.2612C>T (p.Ala871Val) rs61732148 0.01767
NM_206933.4(USH2A):c.8682-53A>G rs115882431 0.01767
NM_001083961.2(WDR62):c.2281C>T (p.His761Tyr) rs61744321 0.01766
NM_001184.4(ATR):c.1326A>G (p.Lys442=) rs28897765 0.01766
NM_001267550.2(TTN):c.22611T>C (p.His7537=) rs16866469 0.01765
NM_000334.4(SCN4A):c.4017+15G>T rs77844100 0.01755
NM_001199107.2(TBC1D24):c.1526-20C>T rs114367256 0.01755
NM_017791.3(FLVCR2):c.*1040C>T rs8017131 0.01752
NM_001081.4(CUBN):c.2571C>T (p.Asn857=) rs17432826 0.01751
NM_022098.4(XPNPEP3):c.111A>G (p.Pro37=) rs1894658 0.01750
NM_000260.4(MYO7A):c.5619G>A (p.Arg1873=) rs45450893 0.01749
NM_001378454.1(ALMS1):c.10335C>T (p.Pro3445=) rs78108069 0.01749
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys) rs61740288 0.01748
NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val) rs80243096 0.01747
NM_022124.6(CDH23):c.2424G>A (p.Gly808=) rs76601590 0.01745
NM_022124.6(CDH23):c.2958G>A (p.Leu986=) rs74702249 0.01745
NM_001184.4(ATR):c.946G>A (p.Val316Ile) rs28897764 0.01744
NM_153704.6(TMEM67):c.*19T>C rs55850117 0.01744
NM_004153.4(ORC1):c.2447T>C (p.Met816Thr) rs34521609 0.01742
NM_001184.4(ATR):c.1950G>A (p.Glu650=) rs28910270 0.01739
NM_153676.4(USH1C):c.-60T>C rs371444878 0.01736
NM_000083.3(CLCN1):c.2284+5C>T rs74824159 0.01735
NM_004525.3(LRP2):c.6035G>A (p.Arg2012Lys) rs4667596 0.01732
NM_025074.7(FRAS1):c.*1289G>A rs113324102 0.01731
NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile) rs61340537 0.01730
NM_017791.3(FLVCR2):c.1441G>A (p.Ala481Thr) rs35126362 0.01730
NM_022124.6(CDH23):c.7467C>T (p.Arg2489=) rs111033289 0.01726
NM_001145809.2(MYH14):c.3468-3C>T rs78192108 0.01724
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile) rs56027402 0.01724
NM_022124.6(CDH23):c.4299T>A (p.Pro1433=) rs12218559 0.01724
NM_002160.4(TNC):c.5193G>A (p.Arg1731=) rs61265377 0.01721
NM_014918.5(CHSY1):c.1896C>T (p.Val632=) rs3803423 0.01721
NM_139319.3(SLC17A8):c.711G>A (p.Leu237=) rs11568542 0.01720
NM_001127453.2(GSDME):c.1199C>T (p.Ala400Val) rs71535705 0.01715
NM_001692.4(ATP6V1B1):c.*6C>A rs45498896 0.01715
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His) rs11889925 0.01714
NM_017755.6(NSUN2):c.21T>C (p.Gly7=) rs184594943 0.01714
NM_001081.4(CUBN):c.10265C>T (p.Thr3422Ile) rs1801230 0.01713
NM_006005.3(WFS1):c.*637T>C rs71528901 0.01713
NM_031885.5(BBS2):c.612+12C>A rs77019529 0.01713
NM_198428.3(BBS9):c.*549A>G rs73690947 0.01710
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn) rs72648962 0.01709
NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys) rs35485382 0.01709
NM_000208.4(INSR):c.*2793C>A rs9282760 0.01708
NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp) rs41278174 0.01708
NM_002454.3(MTRR):c.1464A>G (p.Val488=) rs35890938 0.01708
NM_018451.5(CENPJ):c.1881G>A (p.Pro627=) rs75985315 0.01708
NM_002454.3(MTRR):c.1761T>C (p.Tyr587=) rs6874544 0.01706
NM_194248.3(OTOF):c.3608A>G (p.Asn1203Ser) rs61740776 0.01706
NM_006005.3(WFS1):c.*54A>G rs71526455 0.01704
NM_001386140.1(MTTP):c.*279C>G rs115807483 0.01703
NM_006005.3(WFS1):c.*512C>T rs71528900 0.01701
NM_002857.4(PEX19):c.*328A>G rs115260345 0.01698
NM_032119.4(ADGRV1):c.-98G>A rs7706355 0.01695
NM_206933.4(USH2A):c.5857+17A>C rs74766738 0.01694
NM_001267550.2(TTN):c.37202-4T>C rs202032281 0.01693
NM_006397.3(RNASEH2A):c.615T>A (p.Asp205Glu) rs62619782 0.01693
NM_001384474.1(LOXHD1):c.2370C>T (p.Asp790=) rs34723936 0.01692
NM_001134831.2(AHI1):c.3053A>C (p.Gln1018Pro) rs6940875 0.01691
NM_017875.4(SLC25A38):c.*472G>T rs141567816 0.01690
NM_004560.4(ROR2):c.1045C>G (p.His349Asp) rs55983376 0.01689
NM_025074.7(FRAS1):c.2660C>G (p.Thr887Ser) rs74510691 0.01688
NM_032575.3(GLIS2):c.*173G>A rs139029261 0.01688
NM_000334.4(SCN4A):c.*1368G>C rs113385942 0.01686
NM_006005.3(WFS1):c.2019C>T (p.Cys673=) rs71524375 0.01683
NM_182961.4(SYNE1):c.20571A>T (p.Ser6857=) rs34905593 0.01683
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=) rs41287054 0.01682
NM_001130987.2(DYSF):c.1785G>A (p.Ala595=) rs35984374 0.01679
NM_032119.4(ADGRV1):c.1652T>C (p.Val551Ala) rs6889939 0.01679
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile) rs72647851 0.01678
NM_000277.3(PAH):c.1316-35C>T rs62509021 0.01677
NM_002292.4(LAMB2):c.1764C>T (p.Pro588=) rs33942096 0.01677
NM_022098.4(XPNPEP3):c.*3003G>A rs8142521 0.01676
NM_022124.6(CDH23):c.4359+11G>A rs12242607 0.01676
NM_033064.5(ATCAY):c.*2026G>A rs147402942 0.01676
NM_021252.5(RAB18):c.260-7dup rs142609338 0.01674
NM_032119.4(ADGRV1):c.7813T>G (p.Leu2605Val) rs79915053 0.01674
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_001378454.1(ALMS1):c.2319G>A (p.Leu773=) rs28730851 0.01669
NM_201384.3(PLEC):c.1263+8_1263+9insCAGCA rs782124502 0.01668
NM_001267550.2(TTN):c.36855G>A (p.Pro12285=) rs535294541 0.01666
NM_012210.4(TRIM32):c.*589G>A rs16933835 0.01666
NM_018319.4(TDP1):c.-230-4G>T rs28365053 0.01666
NM_000271.5(NPC1):c.1503C>T (p.Asp501=) rs116046557 0.01665
NM_012210.4(TRIM32):c.*845C>T rs111309723 0.01665
NM_018230.3(NUP133):c.1263C>T (p.Asn421=) rs34971259 0.01665
NM_032119.4(ADGRV1):c.2735-10C>A rs78625945 0.01665
NM_201384.3(PLEC):c.1263+6_1263+7insCAGTCGGTGA rs782710802 0.01665
NM_207361.6(FREM2):c.*1624G>A rs17443575 0.01664
NM_194248.3(OTOF):c.129C>T (p.Asp43=) rs116525289 0.01663
NM_207361.6(FREM2):c.9429G>A (p.Gly3143=) rs41306662 0.01662
NM_003839.4(TNFRSF11A):c.*1913A>G rs12721435 0.01660
NM_015102.5(NPHP4):c.3243G>C (p.Gly1081=) rs41280800 0.01658
NM_000254.3(MTR):c.3491G>A (p.Arg1164His) rs61736326 0.01657
NM_021942.6(TRAPPC11):c.675G>A (p.Arg225=) rs73872657 0.01657
NM_001267550.2(TTN):c.25936C>T (p.Arg8646Cys) rs72648987 0.01656
NM_004813.4(PEX16):c.760G>C (p.Val254Leu) rs35214605 0.01652
NM_000083.3(CLCN1):c.352= (p.Gly118=) rs10282312 0.01651
NM_017755.6(NSUN2):c.537+9T>C rs116785933 0.01651
NM_003619.4(PRSS12):c.*672C>T rs72919299 0.01650
NM_001039141.3(TRIOBP):c.2477C>T (p.Ser826Leu) rs41296243 0.01649
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val) rs72648954 0.01649
NM_004937.3(CTNS):c.*851G>A rs75192283 0.01649
NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr) rs73688160 0.01649
NM_000352.6(ABCC8):c.-19A>G rs193922394 0.01648
NM_000426.4(LAMA2):c.8691A>G (p.Arg2897=) rs2228599 0.01648
NM_001128228.3(TPRN):c.1073T>C (p.Leu358Pro) rs60910563 0.01648
NM_015046.7(SETX):c.*1052T>A rs12349210 0.01647
NM_020632.3(ATP6V0A4):c.2306C>T (p.Thr769Met) rs61747678 0.01647
NM_001145809.2(MYH14):c.1024C>G (p.Pro342Ala) rs34498817 0.01645
NM_015046.7(SETX):c.*1288T>C rs72765812 0.01645
NM_153717.3(EVC):c.*1849C>G rs75438311 0.01645
NM_001283009.2(RTEL1):c.3101C>A (p.Pro1034His) rs115610405 0.01644
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=) rs61733619 0.01643
NM_001184.4(ATR):c.2875G>A (p.Val959Met) rs28910271 0.01643
NM_182961.4(SYNE1):c.17418G>A (p.Thr5806=) rs17082422 0.01643
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=) rs62145939 0.01642
NM_020631.5(PLEKHG5):c.*765T>A rs538175057 0.01642
NM_001171.6(ABCC6):c.2171G>A (p.Arg724Lys) rs58073789 0.01638
NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg) rs41291187 0.01638
NM_004100.5(EYA4):c.*2685T>A rs41286210 0.01638
NM_015102.5(NPHP4):c.1611+9C>T rs114900019 0.01637
NM_201384.3(PLEC):c.9945C>T (p.Ser3315=) rs28657061 0.01636
NM_001134831.2(AHI1):c.2624-6A>G rs41288015 0.01635
NM_001267550.2(TTN):c.98164A>T (p.Ile32722Phe) rs72648270 0.01635
NM_033064.5(ATCAY):c.*1423T>A rs184437292 0.01635
NM_001267550.2(TTN):c.101803A>G (p.Ile33935Val) rs56376197 0.01633
NM_000123.4(ERCC5):c.-74G>A rs3218736 0.01632
NM_001382391.1(CSPP1):c.3138A>G (p.Lys1046=) rs76567936 0.01632
NM_000082.4(ERCC8):c.*36C>T rs4647152 0.01630
NM_000492.4(CFTR):c.-887C>T rs34465975 0.01630
NM_006208.3(ENPP1):c.-13G>A rs535293574 0.01629
NM_018451.5(CENPJ):c.2031C>T (p.Ala677=) rs61729909 0.01628
NM_020631.6(PLEKHG5):c.2594A>G (p.Gln865Arg) rs3007419 0.01628
NM_201384.3(PLEC):c.6741C>T (p.Ile2247=) rs62641755 0.01627
NM_001081.4(CUBN):c.8902G>C (p.Glu2968Gln) rs45569534 0.01626
NM_022095.4(ZNF335):c.2167T>G (p.Phe723Val) rs41305805 0.01624
NM_015702.3(MMADHC):c.478+6T>G rs13402787 0.01622
NM_016239.4(MYO15A):c.9708G>A (p.Val3236=) rs115393178 0.01622
NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val) rs12115566 0.01621
NM_005529.7(HSPG2):c.2869A>C (p.Asn957His) rs62618730 0.01621
NM_001127671.2(LIFR):c.*426G>A rs116625329 0.01616
NM_001145809.2(MYH14):c.483G>A (p.Met161Ile) rs34773557 0.01615
NM_001367624.2(ZNF469):c.3894G>C (p.Val1298=) rs115790991 0.01614
NM_001081.4(CUBN):c.*305T>G rs143326344 0.01612
NM_001199799.2(ILDR1):c.1162T>C (p.Trp388Arg) rs35661993 0.01612
NM_000360.4(TH):c.1035G>T (p.Ala345=) rs11826260 0.01611
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe) rs33917087 0.01611
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_207361.6(FREM2):c.3116T>A (p.Met1039Lys) rs2496424 0.01608
NM_000208.4(INSR):c.3795-5C>T rs78312382 0.01607
NM_001081.4(CUBN):c.*781C>T rs115080396 0.01607
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp) rs17472401 0.01606
NM_024753.5(TTC21B):c.2334C>T (p.Tyr778=) rs79656636 0.01606
NM_000782.5(CYP24A1):c.234T>G (p.Gly78=) rs61755338 0.01605
NM_024649.5(BBS1):c.*1215T>C rs115354748 0.01605
NM_153717.3(EVC):c.*615C>T rs73079505 0.01604
NM_006208.3(ENPP1):c.1329T>C (p.Asp443=) rs113723070 0.01601
NM_022124.6(CDH23):c.4210-7C>T rs79271090 0.01600
NM_153717.3(EVC):c.*1083T>G rs71599850 0.01599
NM_000543.5(SMPD1):c.807C>T (p.Ala269=) rs35933246 0.01598
NM_002160.4(TNC):c.6006G>A (p.Leu2002=) rs61736828 0.01597
NM_182961.4(SYNE1):c.19989T>C (p.His6663=) rs61746395 0.01595
NM_000070.3(CAPN3):c.1355-6G>A rs28364485 0.01593
NM_001351132.2(PEX5):c.*75G>A rs112966367 0.01593
NM_004715.5(CTDP1):c.492+7C>T rs115851227 0.01593
NM_006846.4(SPINK5):c.2113-18G>A rs73271150 0.01592
NM_000243.3(MEFV):c.*133G>A rs2075849 0.01591
NM_002230.4(JUP):c.867C>T (p.Thr289=) rs2230407 0.01591
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu) rs12352982 0.01591
NM_004004.6(GJB2):c.-15C>T rs72561725 0.01589
NM_021628.3(ALOXE3):c.1543A>G (p.Ile515Val) rs3027205 0.01586
NM_024596.5(MCPH1):c.634G>A (p.Ala212Thr) rs2922828 0.01586
NM_198428.3(BBS9):c.*138A>C rs59454255 0.01586
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390 0.01583
NM_000277.3(PAH):c.963C>T (p.Leu321=) rs61747292 0.01582
NM_012463.4(ATP6V0A2):c.*1205C>G rs6488903 0.01582
NM_000543.5(SMPD1):c.559C>T (p.Pro187Ser) rs74053349 0.01580
NM_002292.4(LAMB2):c.4923+17A>G rs116836607 0.01580
NM_000553.6(WRN):c.3236C>T (p.Ser1079Leu) rs3087414 0.01577
NM_001267550.2(TTN):c.62178T>C (p.Thr20726=) rs72646847 0.01577
NM_017929.5(PEX26):c.-148C>T rs115617644 0.01576
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly) rs17592 0.01574
NM_000271.5(NPC1):c.1947+14G>T rs3745024 0.01574
NM_000124.4(ERCC6):c.2825C>T (p.Thr942Met) rs2228525 0.01573
NM_000334.4(SCN4A):c.4905C>T (p.Ile1635=) rs59081944 0.01571
NM_001171.6(ABCC6):c.1344G>A (p.Leu448=) rs58703366 0.01571
NM_000506.5(F2):c.1602G>A (p.Pro534=) rs5900 0.01567
NM_001614.5(ACTG1):c.399C>T (p.Tyr133=) rs2230158 0.01567
NM_001254.4(CDC6):c.883G>A (p.Asp295Asn) rs4135012 0.01566
NM_006846.4(SPINK5):c.2762A>G (p.Asn921Ser) rs73271166 0.01566
NM_153717.3(EVC):c.*820C>T rs137860758 0.01565
NM_001614.5(ACTG1):c.729C>T (p.Pro243=) rs2230159 0.01563
NM_014918.5(CHSY1):c.1052A>G (p.Lys351Arg) rs74752435 0.01562
NM_001194998.2(CEP152):c.4299T>C (p.His1433=) rs114085678 0.01559
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys) rs72647875 0.01559
NM_005709.4(USH1C):c.1261G>A (p.Gly421Ser) rs115931035 0.01559
NM_015046.7(SETX):c.*849G>T rs74975459 0.01559
NM_206933.4(USH2A):c.6369C>T (p.Cys2123=) rs111033472 0.01557
NM_182961.4(SYNE1):c.8336T>G (p.Ile2779Ser) rs77121899 0.01555
NM_015311.3(OBSL1):c.1884C>T (p.Tyr628=) rs115194510 0.01551
NM_001127671.2(LIFR):c.*988G>A rs3776425 0.01550
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=) rs6725673 0.01548
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp) rs45608038 0.01548
NM_032237.5(POMK):c.795C>T (p.Asp265=) rs36071326 0.01548
NM_021252.5(RAB18):c.*1542T>C rs10508724 0.01545
NM_003860.4(BANF1):c.*177G>A rs148797275 0.01543
NM_021252.5(RAB18):c.*504A>G rs12571836 0.01543
NM_001081.4(CUBN):c.5924C>T (p.Pro1975Leu) rs41289303 0.01542
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr) rs744427 0.01542
NM_207361.6(FREM2):c.*3929G>T rs79571295 0.01542
NM_002454.3(MTRR):c.1370+19G>A rs113005255 0.01540
NM_001127671.2(LIFR):c.*4056G>T rs73077449 0.01539
NM_014918.5(CHSY1):c.1812G>A (p.Val604=) rs3803422 0.01536
NM_002160.4(TNC):c.3353G>A (p.Arg1118Gln) rs61738263 0.01534
NM_001384140.1(PCDH15):c.3795A>T (p.Glu1265Asp) rs111033496 0.01533
NM_014956.5(CEP164):c.3716C>T (p.Pro1239Leu) rs61995733 0.01531
NM_002473.6(MYH9):c.3838-12C>T rs113698937 0.01529
NM_194248.3(OTOF):c.3247G>C (p.Ala1083Pro) rs80356574 0.01529
NM_000286.3(PEX12):c.*636T>C rs111424374 0.01528
NM_001127671.2(LIFR):c.1886-18C>T rs3729743 0.01528
NM_001378454.1(ALMS1):c.1144A>G (p.Thr382Ala) rs28730849 0.01527
NM_012448.4(STAT5B):c.993G>A (p.Thr331=) rs59491077 0.01527
NM_000286.3(PEX12):c.*297T>C rs113891712 0.01526
NM_005529.7(HSPG2):c.9329-7C>T rs2270695 0.01525
NM_001267550.2(TTN):c.52706-17A>G rs72646807 0.01524
NM_004525.3(LRP2):c.11759-5T>G rs76488092 0.01524
NM_032119.4(ADGRV1):c.11481T>C (p.Asp3827=) rs16869083 0.01524
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=) rs5216 0.01521
NM_005529.7(HSPG2):c.9329-8C>T rs2270696 0.01521
NM_001267550.2(TTN):c.18390A>T (p.Thr6130=) rs66523653 0.01518
NM_014028.4(OSTM1):c.*212A>G rs17069239 0.01518
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570 0.01518
NM_001171.6(ABCC6):c.3507-3C>T rs41278172 0.01517
NM_001384140.1(PCDH15):c.546A>G (p.Gly182=) rs34164469 0.01517
NM_025074.7(FRAS1):c.727A>G (p.Ile243Val) rs6848030 0.01516
NM_018136.5(ASPM):c.5579C>T (p.Ala1860Val) rs77138363 0.01515
NM_018136.5(ASPM):c.5821T>C (p.Cys1941Arg) rs61249253 0.01514
NM_018136.5(ASPM):c.7787T>C (p.Val2596Ala) rs79572771 0.01514
NM_194248.3(OTOF):c.5391C>T (p.Phe1797=) rs61747275 0.01514
NM_018136.5(ASPM):c.5063C>T (p.Thr1688Ile) rs62624968 0.01513
NM_001017420.3(ESCO2):c.1522A>G (p.Ile508Val) rs114956994 0.01512
NM_022124.6(CDH23):c.4341T>C (p.Asp1447=) rs12218564 0.01509
NM_000334.4(SCN4A):c.*332C>T rs77962116 0.01507
NM_001184.4(ATR):c.293-20C>T rs115097590 0.01504
NM_020366.4(RPGRIP1):c.1793G>A (p.Arg598Gln) rs74034910 0.01504
NM_001267550.2(TTN):c.65743C>A (p.Gln21915Lys) rs62618736 0.01503
NM_001384474.1(LOXHD1):c.1876G>T (p.Gly626Cys) rs34589386 0.01503
NM_000782.5(CYP24A1):c.-100T>C rs144737632 0.01502
NM_000271.5(NPC1):c.2514+6C>T rs73392120 0.01501
NM_000208.4(INSR):c.*3592A>G rs75499056 0.01497
NM_016373.4(WWOX):c.108-12del rs149533117 0.01497
NM_000180.4(GUCY2D):c.1724C>T (p.Pro575Leu) rs28743021 0.01496
NM_153240.5(NPHP3):c.1986G>A (p.Arg662=) rs77533254 0.01496
NM_001267550.2(TTN):c.2781A>C (p.Thr927=) rs55892860 0.01493
NM_000180.4(GUCY2D):c.2517G>A (p.Thr839=) rs56316238 0.01492
NM_025074.7(FRAS1):c.1286C>A (p.Ser429Tyr) rs6838959 0.01491
NM_000441.2(SLC26A4):c.*1302T>G rs112019874 0.01487
NM_004525.3(LRP2):c.2726A>G (p.His909Arg) rs36082715 0.01487
NM_017791.3(FLVCR2):c.*1098C>A rs8017287 0.01484
NM_018389.5(SLC35C1):c.-173C>T rs78455013 0.01481
NM_000124.4(ERCC6):c.528A>G (p.Arg176=) rs4253027 0.01480
NM_020661.4(AICDA):c.*1666G>T rs115523544 0.01479
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_015404.4(WHRN):c.-295C>G rs7861589 0.01478
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val) rs75829835 0.01478
NM_001267550.2(TTN):c.80635C>A (p.Gln26879Lys) rs79926414 0.01477
NM_016373.4(WWOX):c.293C>T (p.Pro98Leu) rs144601717 0.01477
NM_206933.4(USH2A):c.2109T>C (p.Asp703=) rs45555435 0.01476
NM_024301.5(FKRP):c.192C>T (p.Pro64=) rs111754012 0.01474
NM_020661.4(AICDA):c.*1206C>T rs147762245 0.01472
NM_201384.3(PLEC):c.1706G>A (p.Arg569Gln) rs3135103 0.01472
NM_001267550.2(TTN):c.40141+7G>A rs77960621 0.01470
NM_005708.5(GPC6):c.*2605C>A rs113980048 0.01470
NM_005529.7(HSPG2):c.7509C>T (p.Cys2503=) rs62642515 0.01467
NM_018136.5(ASPM):c.3912C>A (p.Ile1304=) rs56912014 0.01464
NM_207361.6(FREM2):c.954C>G (p.Pro318=) rs9576597 0.01462
NM_005529.7(HSPG2):c.7035C>T (p.Ile2345=) rs2229484 0.01460
NM_025074.7(FRAS1):c.308A>T (p.Glu103Val) rs78711748 0.01459
NM_015046.7(SETX):c.*1224G>C rs10491906 0.01458
NM_018136.5(ASPM):c.2307A>G (p.Ala769=) rs35897746 0.01457
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His) rs56307213 0.01455
NM_018136.5(ASPM):c.1288A>G (p.Arg430Gly) rs6428388 0.01455
NM_201384.3(PLEC):c.13205C>T (p.Thr4402Met) rs113513807 0.01455
NM_025074.7(FRAS1):c.979C>T (p.Arg327Trp) rs61999335 0.01454
NM_000492.4(CFTR):c.*1043A>C rs10234329 0.01452
NM_004407.4(DMP1):c.*603C>T rs78837592 0.01450
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353 0.01449
NM_006208.3(ENPP1):c.*3163C>T rs55670720 0.01449
NM_033064.5(ATCAY):c.*1235T>C rs148116098 0.01449
NM_005529.7(HSPG2):c.7532C>T (p.Thr2511Ile) rs62642518 0.01448
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937 0.01445
NM_138387.4(G6PC3):c.416+5A>G rs73306693 0.01443
NM_138387.4(G6PC3):c.647C>T (p.Thr216Ile) rs34406052 0.01442
NM_003630.3(PEX3):c.245A>G (p.Gln82Arg) rs35220041 0.01440
NM_004813.4(PEX16):c.*158A>C rs79435202 0.01440
NM_206933.4(USH2A):c.4371G>A (p.Ser1457=) rs56013136 0.01440
NM_021971.4(GMPPB):c.376C>G (p.His126Asp) rs34345884 0.01439
NM_006005.3(WFS1):c.9C>T (p.Ser3=) rs71524363 0.01435
NM_201384.3(PLEC):c.8012G>A (p.Arg2671Gln) rs28526657 0.01433
NM_022124.6(CDH23):c.3619G>A (p.Val1207Met) rs111033488 0.01431
NM_001161403.3(LIMS2):c.803-8C>G rs115961120 0.01430
NM_014780.5(CUL7):c.1202G>A (p.Arg401Gln) rs73733791 0.01429
NM_000211.5(ITGB2):c.59-15G>A rs74539155 0.01426
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val) rs16866391 0.01426
NM_000318.3(PEX2):c.550= (p.Cys184=) rs10087163 0.01422
NM_005236.3(ERCC4):c.33C>T (p.Ala11=) rs3136042 0.01420
NM_001267550.2(TTN):c.3993C>T (p.Ile1331=) rs55757622 0.01419
NM_002160.4(TNC):c.6144G>A (p.Gly2048=) rs79563958 0.01419
NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr) rs3765571 0.01418
NM_022124.6(CDH23):c.204C>T (p.Gly68=) rs116624130 0.01418
NM_206933.4(USH2A):c.8681+18A>G rs41277198 0.01418
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln) rs2279252 0.01416
NM_000260.4(MYO7A):c.286-5C>T rs111033471 0.01415
NM_022124.6(CDH23):c.173A>G (p.Gln58Arg) rs61732490 0.01415
NM_031885.5(BBS2):c.1413A>C (p.Val471=) rs35294865 0.01415
NM_139343.3(BIN1):c.1362G>T (p.Gly454=) rs61748155 0.01414
NM_006208.3(ENPP1):c.*2900G>T rs78495668 0.01409
NM_014363.6(SACS):c.7149C>T (p.Arg2383=) rs17078608 0.01409
NM_005236.3(ERCC4):c.1884A>G (p.Glu628=) rs2020958 0.01408
NM_024753.5(TTC21B):c.1387C>T (p.Pro463Ser) rs16851307 0.01408
NM_000208.3(INSR):c.*4794T>C rs10415841 0.01406
NM_020247.5(COQ8A):c.-10+8T>C rs145688619 0.01402
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=) rs2303836 0.01401
NM_001374623.1(PNPLA1):c.1595+384G>C rs146627469 0.01401
NM_004525.3(LRP2):c.5702C>G (p.Ala1901Gly) rs61995913 0.01399
NM_004525.3(LRP2):c.6810G>A (p.Val2270=) rs2228170 0.01397
NM_025074.7(FRAS1):c.11717T>C (p.Ile3906Thr) rs61748814 0.01397
NM_000124.4(ERCC6):c.*2137A>G rs114723899 0.01395
NM_203486.3(DLL3):c.1152G>A (p.Ala384=) rs115456333 0.01391
NM_000543.5(SMPD1):c.1763C>T (p.Thr588Met) rs35785620 0.01390
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr) rs36043230 0.01390
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_004560.4(ROR2):c.75G>A (p.Leu25=) rs148237260 0.01389
NM_201384.3(PLEC):c.4557G>A (p.Ser1519=) rs79705634 0.01389
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln) rs35824453 0.01388
NM_014780.5(CUL7):c.1027C>T (p.Pro343Ser) rs113845886 0.01387
NM_001367624.2(ZNF469):c.10708G>A (p.Ala3570Thr) rs57052487 0.01385
NM_020779.4(WDR35):c.*1129C>T rs76845713 0.01385
NM_024596.5(MCPH1):c.1719C>T (p.Ser573=) rs35551093 0.01384
NM_016042.4(EXOSC3):c.*197C>T rs117073203 0.01382
NM_018136.5(ASPM):c.2751C>T (p.Ala917=) rs33987824 0.01382
NM_000211.5(ITGB2):c.1657+9G>A rs114479227 0.01380
NM_020631.5(PLEKHG5):c.*1313C>T rs45574533 0.01380
NM_031471.6(FERMT3):c.1320G>A (p.Gln440=) rs76744324 0.01379
NM_004937.3(CTNS):c.-635G>C rs112140949 0.01378
NM_024753.5(TTC21B):c.2385G>C (p.Leu795=) rs80225158 0.01377
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610 0.01377
NM_000553.6(WRN):c.3384-3T>C rs3087424 0.01376
NM_201384.3(PLEC):c.6577C>T (p.Leu2193=) rs28610521 0.01376
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=) rs60824529 0.01375
NM_002857.4(PEX19):c.879T>C (p.Gly293=) rs74125561 0.01375
NM_004153.4(ORC1):c.1115C>T (p.Ala372Val) rs3087476 0.01375
NM_024989.4(PGAP1):c.2007C>T (p.Ala669=) rs149815494 0.01375
NM_000180.4(GUCY2D):c.3043+20G>C rs78844078 0.01374
NM_153676.4(USH1C):c.2184+21T>G rs75810555 0.01371
NM_052989.3(IFT122):c.3265+7C>T rs9836202 0.01370
NM_001127671.2(LIFR):c.2066-74T>G rs113874922 0.01368
NM_001384474.1(LOXHD1):c.3269G>A (p.Arg1090Gln) rs118174674 0.01368
NM_015272.5(RPGRIP1L):c.2959-15T>C rs11863101 0.01368
NM_001081.4(CUBN):c.*93C>A rs111644764 0.01367
NM_006208.3(ENPP1):c.2106T>C (p.Ser702=) rs7750837 0.01366
NM_001278293.3(ARL6):c.480-8C>T rs77010939 0.01364
NM_003052.5(SLC34A1):c.389-5C>T rs189794265 0.01364
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys) rs56324595 0.01363
NM_004565.3(PEX14):c.513C>A (p.Ala171=) rs35046754 0.01363
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567 0.01363
NM_000208.4(INSR):c.*4218G>C rs10416396 0.01362
NM_002160.4(TNC):c.5745C>A (p.Thr1915=) rs10118726 0.01360
NM_000334.4(SCN4A):c.2289C>T (p.Ile763=) rs76894284 0.01359
NM_001278293.3(ARL6):c.*255C>T rs79196822 0.01359
NM_001127453.2(GSDME):c.*448T>C rs144061292 0.01358
NM_001267550.2(TTN):c.10700G>A (p.Ser3567Asn) rs72955213 0.01357
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly) rs141736123 0.01357
NM_001171.6(ABCC6):c.1077A>G (p.Ser359=) rs72664283 0.01355
NM_018718.3(CEP41):c.*3507C>T rs149385617 0.01355
NM_198428.3(BBS9):c.34A>G (p.Thr12Ala) rs4498440 0.01355
NM_001267550.2(TTN):c.26245G>A (p.Val8749Ile) rs16866457 0.01351
NM_020751.3(COG6):c.898C>T (p.His300Tyr) rs34555836 0.01351
NM_138694.4(PKHD1):c.11174+11A>G rs115072237 0.01349
NM_002292.4(LAMB2):c.1724G>A (p.Arg575Gln) rs61729152 0.01347
NM_000208.4(INSR):c.2370G>A (p.Thr790=) rs16994210 0.01346
NM_001267550.2(TTN):c.12235A>G (p.Ile4079Val) rs34070843 0.01345
NM_001367624.2(ZNF469):c.3125G>A (p.Arg1042Gln) rs181077813 0.01341
NM_004407.4(DMP1):c.1388A>G (p.Lys463Arg) rs34661425 0.01341
NM_004415.4(DSP):c.4773G>A (p.Arg1591=) rs28763968 0.01341
NM_020964.3(EPG5):c.7557+15T>C rs59817706 0.01339
NM_145861.4(EDARADD):c.121-19C>T rs12064562 0.01338
NM_001267550.2(TTN):c.65516C>T (p.Ala21839Val) rs55948748 0.01336
NM_006846.4(SPINK5):c.119G>C (p.Gly40Ala) rs73269156 0.01335
NM_017875.4(SLC25A38):c.-303A>C rs114422738 0.01335
NM_182961.4(SYNE1):c.22809C>T (p.Leu7603=) rs34630198 0.01334
NM_000760.4(CSF3R):c.726C>T (p.Ala242=) rs3918017 0.01333
NM_001127671.2(LIFR):c.*6316C>T rs115572283 0.01333
NM_020661.4(AICDA):c.*718C>A rs74372815 0.01333
NM_017875.4(SLC25A38):c.-209A>G rs143903497 0.01332
NM_017755.6(NSUN2):c.*50T>G rs56282400 0.01331
NM_000360.4(TH):c.645-74A>T rs73403741 0.01330
NM_021830.5(TWNK):c.*204G>A rs61871507 0.01328
NM_006721.4(ADK):c.727-11T>C rs12778270 0.01325
NM_001134831.2(AHI1):c.1152-11T>G rs113317693 0.01324
NM_006208.3(ENPP1):c.1317A>G (p.Lys439=) rs9483347 0.01323
NM_020779.4(WDR35):c.*553G>T rs79153401 0.01323
NM_000370.3(TTPA):c.*1404G>A rs56675911 0.01322
NM_005529.7(HSPG2):c.8848G>A (p.Gly2950Arg) rs41266007 0.01322
NM_004525.3(LRP2):c.3452C>T (p.Pro1151Leu) rs150552608 0.01319
NM_025074.7(FRAS1):c.5208T>C (p.Leu1736=) rs35608396 0.01318
NM_032575.3(GLIS2):c.*232T>G rs114705511 0.01317
NM_016373.4(WWOX):c.1238C>A (p.Ser413Tyr) rs117065412 0.01316
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr) rs41303285 0.01316
NM_002160.4(TNC):c.3165C>T (p.Ala1055=) rs3748172 0.01315
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) rs35730265 0.01315
NM_000466.3(PEX1):c.1671-7T>C rs74519968 0.01312
NM_001267550.2(TTN):c.37009C>T (p.Pro12337Ser) rs201474544 0.01309
NM_022098.4(XPNPEP3):c.*3411T>C rs115221268 0.01309
NM_001267550.2(TTN):c.2949C>T (p.Ile983=) rs56310516 0.01308
NM_012463.4(ATP6V0A2):c.1039-14T>C rs115569365 0.01308
NM_001077418.3(TMEM231):c.177G>C (p.Pro59=) rs78196225 0.01307
NM_000271.5(NPC1):c.1300C>T (p.Pro434Ser) rs61731962 0.01305
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys) rs72646869 0.01305
NM_001367624.2(ZNF469):c.2034C>T (p.Ala678=) rs58401704 0.01305
NM_012448.4(STAT5B):c.2237+15T>C rs113762956 0.01303
NM_015046.7(SETX):c.6507G>A (p.Gly2169=) rs34073320 0.01300
NM_138387.4(G6PC3):c.-152T>C rs149756661 0.01300
NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser) rs116758271 0.01300
NM_001099287.2(NIPAL4):c.*1221C>T rs78888263 0.01299
NM_020964.3(EPG5):c.5954G>A (p.Arg1985Gln) rs34674177 0.01298
NM_201384.3(PLEC):c.7110C>T (p.Ala2370=) rs80143277 0.01298
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu) rs80026831 0.01296
NM_017777.4(MKS1):c.1273+11G>A rs16942826 0.01295
NM_024753.5(TTC21B):c.838A>G (p.Met280Val) rs112868646 0.01295
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met) rs16866475 0.01294
NM_001378454.1(ALMS1):c.1899A>G (p.Gln633=) rs116033693 0.01292
NM_014780.5(CUL7):c.3096C>T (p.Asp1032=) rs138276478 0.01292
NM_138694.4(PKHD1):c.8673C>G (p.Arg2891=) rs116098879 0.01291
NM_000019.4(ACAT1):c.*179T>G rs114728153 0.01290
NM_000082.4(ERCC8):c.363T>C (p.Asp121=) rs4647088 0.01289
NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=) rs8175351 0.01289
NM_201384.3(PLEC):c.2217G>A (p.Gln739=) rs116612406 0.01288
NM_000243.2(MEFV):c.-330G>A rs11466013 0.01286
NM_004153.4(ORC1):c.540A>C (p.Gln180His) rs3087482 0.01286
NM_006397.3(RNASEH2A):c.*120C>T rs73925216 0.01285
NM_206933.4(USH2A):c.4627+32G>T rs75662936 0.01284
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln) rs55742743 0.01280
NM_020247.5(COQ8A):c.63G>A (p.Ala21=) rs11549709 0.01280
NM_001127649.3(PEX26):c.*464A>G rs141229564 0.01278
NM_004525.3(LRP2):c.7253A>G (p.Glu2418Gly) rs61995915 0.01278
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01276
NM_018718.3(CEP41):c.*3765G>T rs138768326 0.01276
NM_001184.4(ATR):c.4835A>G (p.Asn1612Ser) rs55894265 0.01275
NM_014028.4(OSTM1):c.*1427A>G rs116796449 0.01274
NM_002292.4(LAMB2):c.4774C>T (p.Arg1592Trp) rs61729458 0.01273
NM_003673.4(TCAP):c.*377G>C rs3194794 0.01272
NM_014780.5(CUL7):c.1846A>G (p.Ser616Gly) rs7774330 0.01270
NM_144672.4(OTOA):c.2238G>A (p.Thr746=) rs72640475 0.01270
NM_000352.6(ABCC8):c.3612C>T (p.Ala1204=) rs149861153 0.01269
NM_012233.3(RAB3GAP1):c.1041A>G (p.Arg347=) rs77972211 0.01269
NM_001384140.1(PCDH15):c.4368-1207C>T rs74134797 0.01267
NM_006208.3(ENPP1):c.*2301A>G rs115728089 0.01267
NM_201384.3(PLEC):c.1374C>T (p.Thr458=) rs115081018 0.01267
NM_001267550.2(TTN):c.23001G>A (p.Thr7667=) rs16866467 0.01263
NM_000287.4(PEX6):c.1028G>A (p.Arg343Gln) rs111282915 0.01262
NM_138694.4(PKHD1):c.1234-5C>T rs116124750 0.01262
NM_001184.4(ATR):c.7300C>G (p.Pro2434Ala) rs33972295 0.01261
NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val) rs72647877 0.01259
NM_022089.4(ATP13A2):c.1617G>T (p.Leu539=) rs61739752 0.01259
NM_001145809.2(MYH14):c.4596C>T (p.Ala1532=) rs35453633 0.01258
NM_006892.4(DNMT3B):c.1413C>T (p.Asp471=) rs6119965 0.01256
NM_198428.3(BBS9):c.1849A>C (p.Ile617Leu) rs34209904 0.01256
NM_001329943.3(KIAA0586):c.4560G>A (p.Pro1520=) rs45568037 0.01255
NM_001098484.3(SLC4A4):c.1683C>T (p.Ser561=) rs35169468 0.01254
NM_144672.4(OTOA):c.1105-17G>A rs73549643 0.01254
NM_001145809.2(MYH14):c.6012A>T (p.Leu2004=) rs73932457 0.01253
NM_000271.5(NPC1):c.2103C>T (p.Asn701=) rs7227375 0.01251
NM_004560.4(ROR2):c.*229C>T rs75004227 0.01251
NM_025074.7(FRAS1):c.8417C>T (p.Thr2806Met) rs114190041 0.01251
NM_025074.7(FRAS1):c.10230C>T (p.Tyr3410=) rs34034599 0.01250
NM_000254.3(MTR):c.3496C>T (p.Leu1166=) rs12030699 0.01249
NM_004560.4(ROR2):c.2727G>A (p.Val909=) rs56091954 0.01249
NM_024685.4(BBS10):c.*1248A>G rs115516881 0.01249
NM_025074.7(FRAS1):c.9955C>G (p.Gln3319Glu) rs78619145 0.01249
NM_001127649.3(PEX26):c.*10C>T rs117472525 0.01244
NM_004004.6(GJB2):c.-216T>G rs574815423 0.01243
NM_005529.7(HSPG2):c.5998-7A>G rs148336692 0.01243
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys) rs116676813 0.01242
NM_002860.4(ALDH18A1):c.*611G>A rs41291562 0.01242
NM_032119.4(ADGRV1):c.16164A>G (p.Arg5388=) rs41304884 0.01242
NM_025074.7(FRAS1):c.9759A>G (p.Pro3253=) rs61741742 0.01240
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) rs117195541 0.01237
NM_182961.4(SYNE1):c.10598G>A (p.Arg3533His) rs145911138 0.01237
NM_015046.7(SETX):c.*351G>T rs117409290 0.01236
NM_001081.4(CUBN):c.*151G>A rs76742384 0.01235
NM_015102.5(NPHP4):c.2808G>A (p.Thr936=) rs17028857 0.01235
NM_000360.4(TH):c.1278G>A (p.Thr426=) rs36097848 0.01234
NM_020458.4(TTC7A):c.1641+17C>T rs78064634 0.01232
NM_016373.4(WWOX):c.351C>G (p.Leu117=) rs34944716 0.01231
NM_017777.4(MKS1):c.-18C>G rs116514023 0.01231
NM_001044385.3(TMEM237):c.-12G>A rs113186360 0.01229
NM_000382.3(ALDH3A2):c.563C>T (p.Ala188Val) rs115977487 0.01228
NM_201384.3(PLEC):c.2305-10del rs142120912 0.01228
NM_006005.3(WFS1):c.*131C>T rs55993016 0.01227
NM_000208.4(INSR):c.*2340A>G rs78987925 0.01226
NM_013335.4(GMPPA):c.213C>T (p.Ala71=) rs41272703 0.01225
NM_017433.5(MYO3A):c.533C>T (p.Thr178Ile) rs33968748 0.01220
NM_001367624.2(ZNF469):c.8121G>A (p.Ala2707=) rs116696830 0.01217
NM_000208.4(INSR):c.*4602C>T rs10413914 0.01216
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly) rs1800124 0.01216
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala) rs73063795 0.01215
NM_001267550.2(TTN):c.100459C>T (p.Pro33487Ser) rs72629779 0.01213
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg) rs55801134 0.01212
NM_001329943.3(KIAA0586):c.2060-3T>C rs17094553 0.01209
NM_003619.4(PRSS12):c.1272T>G (p.Val424=) rs2292598 0.01208
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=) rs111033230 0.01207
NM_005219.5(DIAPH1):c.*618G>C rs144081334 0.01207
NM_016122.3(CEP83):c.1411C>T (p.Leu471=) rs139046818 0.01207
NM_018451.5(CENPJ):c.287A>G (p.His96Arg) rs61739263 0.01206
NM_020779.4(WDR35):c.1601G>A (p.Arg534Gln) rs113345685 0.01206
NM_015340.4(LARS2):c.2493G>T (p.Glu831Asp) rs9827689 0.01205
NM_000208.4(INSR):c.*3857C>T rs114405975 0.01204
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln) rs56367069 0.01203
NM_170784.3(MKKS):c.1462G>A (p.Ala488Thr) rs61734546 0.01201
NM_206933.4(USH2A):c.5572+15G>A rs17026052 0.01200
NM_000271.5(NPC1):c.3246-20G>A rs6507717 0.01199
NM_004937.3(CTNS):c.*2127G>A rs72835828 0.01197
NM_001267550.2(TTN):c.1003G>A (p.Val335Met) rs72647846 0.01195
NM_022168.4(IFIH1):c.2767A>G (p.Ile923Val) rs35667974 0.01195
NM_025074.7(FRAS1):c.10494C>T (p.Thr3498=) rs149604281 0.01195
NM_001384474.1(LOXHD1):c.2080G>T (p.Asp694Tyr) rs35727744 0.01194
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu) rs28364364 0.01193
NM_000208.4(INSR):c.*2519G>A rs114982195 0.01193
NM_018075.5(ANO10):c.627T>C (p.Ala209=) rs61742945 0.01193
NM_001267550.2(TTN):c.98595A>G (p.Glu32865=) rs55977045 0.01192
NM_016239.4(MYO15A):c.3023C>G (p.Thr1008Ser) rs143316414 0.01192
NM_021971.4(GMPPB):c.330C>T (p.Asp110=) rs11547261 0.01192
NM_004525.3(LRP2):c.13250G>A (p.Gly4417Asp) rs41268685 0.01191
NM_206933.4(USH2A):c.13984C>G (p.Gln4662Glu) rs41302237 0.01191
NM_206933.4(USH2A):c.688G>A (p.Val230Met) rs45500891 0.01191
NM_001283009.2(RTEL1):c.2051G>A (p.Arg684Gln) rs35640778 0.01190
NM_025074.7(FRAS1):c.1769T>C (p.Met590Thr) rs35030041 0.01189
NM_001267550.2(TTN):c.36625G>T (p.Val12209Leu) rs72650053 0.01188
NM_001098484.3(SLC4A4):c.2176C>T (p.Leu726=) rs16846517 0.01187
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792 0.01187
NM_012463.4(ATP6V0A2):c.*2646A>G rs77292614 0.01186
NM_001267550.2(TTN):c.11719C>G (p.Leu3907Val) rs55853696 0.01185
NM_001267550.2(TTN):c.32254G>A (p.Val10752Ile) rs72650028 0.01184
NM_001267550.2(TTN):c.69585C>T (p.Ser23195=) rs67041405 0.01183
NM_005529.7(HSPG2):c.5997+5G>C rs59720663 0.01179
NM_153717.3(EVC):c.*1700C>T rs74690944 0.01179
NM_182961.4(SYNE1):c.10145+18C>G rs79796456 0.01179
NM_004560.4(ROR2):c.1642C>T (p.Pro548Ser) rs35764413 0.01175
NM_182961.4(SYNE1):c.22516A>G (p.Ser7506Gly) rs35763277 0.01174
NM_001184.4(ATR):c.5739-7_5739-6del rs72371423 0.01173
NM_020247.5(COQ8A):c.*133G>A rs149820067 0.01173
NM_022124.6(CDH23):c.1423G>A (p.Val475Met) rs62622410 0.01173
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg) rs17355460 0.01172
NM_001267550.2(TTN):c.1398+8C>T rs72647848 0.01171
NM_006846.4(SPINK5):c.2754A>G (p.Glu918=) rs114635730 0.01171
NM_015102.5(NPHP4):c.*128A>C rs116747881 0.01171
NM_000082.4(ERCC8):c.*237T>C rs4647153 0.01170
NM_000271.5(NPC1):c.*164T>C rs8086463 0.01169
NM_000124.4(ERCC6):c.3177T>C (p.Ser1059=) rs4253207 0.01168
NM_012463.4(ATP6V0A2):c.2549A>G (p.Asn850Ser) rs75279884 0.01166
NM_021971.4(GMPPB):c.551= (p.Gln184=) rs1466685 0.01166
NM_001023570.4(IQCB1):c.1303C>T (p.Arg435Cys) rs11920543 0.01165
NM_001267550.2(TTN):c.100766-9C>T rs77483833 0.01165
NM_033028.5(BBS4):c.*1G>C rs113678046 0.01165
NM_052989.3(IFT122):c.2154C>T (p.His718=) rs116819033 0.01164
NM_005219.5(DIAPH1):c.*1304A>G rs112580910 0.01163
NM_006736.6(DNAJB2):c.808G>C (p.Gly270Arg) rs34127289 0.01163
NM_024596.5(MCPH1):c.*502T>C rs116253794 0.01163
NM_153717.3(EVC):c.1464+8A>G rs116236414 0.01163
NM_001379286.1(ZNF423):c.3361G>A (p.Ala1121Thr) rs147898137 0.01162
NM_001614.5(ACTG1):c.177G>A (p.Gln59=) rs11549220 0.01161
NM_004415.4(DSP):c.3963G>A (p.Gln1321=) rs61731476 0.01161
NM_138694.4(PKHD1):c.11878G>A (p.Val3960Ile) rs34548196 0.01161
NM_153717.3(EVC):c.2373G>A (p.Gln791=) rs73795089 0.01161
NM_153717.3(EVC):c.2363G>A (p.Arg788His) rs73795088 0.01159
NM_006946.4(SPTBN2):c.885+5T>C rs114331192 0.01156
NM_000070.3(CAPN3):c.2433T>C (p.Val811=) rs28364543 0.01154
NM_020631.6(PLEKHG5):c.795+8G>A rs114275646 0.01154
NM_138694.4(PKHD1):c.8174-18T>A rs111383080 0.01154
NM_001367624.2(ZNF469):c.2574G>C (p.Pro858=) rs74384633 0.01153
NM_001083961.2(WDR62):c.2521-13G>C rs79646208 0.01151
NM_001267550.2(TTN):c.95555T>C (p.Leu31852Pro) rs62621206 0.01151
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr) rs55880440 0.01150
NM_001367624.2(ZNF469):c.6032G>A (p.Gly2011Asp) rs79155191 0.01148
NM_012463.4(ATP6V0A2):c.1606-12G>A rs112415338 0.01148
NM_014956.5(CEP164):c.194+13G>T rs116804346 0.01147
NM_000019.3(ACAT1):c.*250C>T rs79179095 0.01146
NM_001048166.1(STIL):c.2017A>G (p.Ser673Gly) rs140448154 0.01146
NM_001283009.2(RTEL1):c.1192-9del rs200008996 0.01145
NM_000070.3(CAPN3):c.1116-5A>G rs28364467 0.01144
NM_018451.5(CENPJ):c.*623A>G rs115136790 0.01144
NM_153700.2(STRC):c.4127+8C>T rs2470137 0.01144
NM_001267550.2(TTN):c.47400G>A (p.Lys15800=) rs114145817 0.01143
NM_015102.5(NPHP4):c.3479C>T (p.Pro1160Leu) rs113445782 0.01143
NM_016038.4(SBDS):c.258+19A>G rs186000847 0.01143
NM_001128178.3(NPHP1):c.689C>T (p.Ala230Val) rs113450177 0.01140
NM_001267550.2(TTN):c.36489G>A (p.Ala12163=) rs115493456 0.01140
NM_005219.5(DIAPH1):c.*1364T>C rs116342492 0.01140
NM_006846.4(SPINK5):c.2864T>C (p.Val955Ala) rs115820034 0.01140
NM_138691.3(TMC1):c.*106G>C rs79830675 0.01140
NM_206933.4(USH2A):c.3945T>C (p.Asn1315=) rs41303257 0.01136
NM_015294.6(TRIM37):c.861-6C>T rs145324030 0.01135
NM_001374623.1(PNPLA1):c.1464T>A (p.Tyr488Ter) rs45621032 0.01134
NM_032119.4(ADGRV1):c.5747C>T (p.Thr1916Ile) rs35791889 0.01134
NM_033064.5(ATCAY):c.*1190G>A rs143684746 0.01134
NM_015294.6(TRIM37):c.1264T>C (p.Leu422=) rs74586224 0.01133
NM_032119.4(ADGRV1):c.7293C>T (p.Ala2431=) rs77791584 0.01133
NM_020631.5(PLEKHG5):c.*843G>T rs12735472 0.01132
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr) rs72646809 0.01131
NM_001367624.2(ZNF469):c.7764G>A (p.Pro2588=) rs117149938 0.01130
NM_020779.4(WDR35):c.3019C>T (p.Arg1007Cys) rs56395266 0.01130
NM_153240.5(NPHP3):c.57G>C (p.Thr19=) rs192633696 0.01128
NM_000211.5(ITGB2):c.117G>A (p.Ser39=) rs35903905 0.01127
NM_002618.4(PEX13):c.*1652G>A rs72877535 0.01126
NM_001023570.4(IQCB1):c.424T>C (p.Phe142Leu) rs11926958 0.01125
NM_000163.5(GHR):c.1319G>T (p.Cys440Phe) rs6182 0.01122
NM_005529.7(HSPG2):c.9790A>G (p.Ile3264Val) rs139500146 0.01121
NM_000163.5(GHR):c.1735C>A (p.Pro579Thr) rs6184 0.01120
NM_001171.6(ABCC6):c.4208+9G>A rs58760581 0.01119
NM_001329943.3(KIAA0586):c.3719T>C (p.Leu1240Ser) rs190271845 0.01118
NM_015294.6(TRIM37):c.2512G>A (p.Val838Ile) rs7222388 0.01118
NM_201384.3(PLEC):c.7266C>T (p.Leu2422=) rs117306121 0.01118
NM_000163.5(GHR):c.*781T>A rs17839374 0.01117
NM_001267550.2(TTN):c.16095C>T (p.Asn5365=) rs72648935 0.01116
NM_206933.4(USH2A):c.7301-65C>T rs41277204 0.01115
NM_014028.4(OSTM1):c.*1082G>A rs148730821 0.01114
NM_025074.7(FRAS1):c.1416C>T (p.Cys472=) rs35690113 0.01114
NM_201384.3(PLEC):c.3192C>T (p.Arg1064=) rs73377210 0.01114
NM_001283009.2(RTEL1):c.2546G>A (p.Gly849Asp) rs190887884 0.01112
NM_206933.4(USH2A):c.9213G>A (p.Ser3071=) rs111033397 0.01111
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) rs189089167 0.01110
NM_001367624.2(ZNF469):c.2407G>T (p.Ala803Ser) rs113484918 0.01110
NM_022095.4(ZNF335):c.3354C>T (p.Leu1118=) rs35156034 0.01110
NM_001374623.1(PNPLA1):c.1595+532G>C rs114437563 0.01107
NM_153676.4(USH1C):c.819+10G>C rs41282936 0.01105
NM_024989.4(PGAP1):c.860+12C>A rs79169433 0.01104
NM_001042545.2(LTBP4):c.1125G>A (p.Arg375=) rs41354044 0.01103
NM_001614.5(ACTG1):c.124-14G>A rs115307446 0.01103
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=) rs55958233 0.01103
NM_153704.6(TMEM67):c.*852C>T rs114214029 0.01103
NM_015102.5(NPHP4):c.2031C>T (p.Pro677=) rs34373111 0.01102
NM_002160.4(TNC):c.2620A>G (p.Ile874Val) rs61737743 0.01101
NM_018136.5(ASPM):c.2805T>C (p.Ser935=) rs113161395 0.01101
NM_000163.5(GHR):c.785-9G>A rs34190075 0.01100
NM_005529.7(HSPG2):c.1999-13C>T rs77828146 0.01100
NM_032119.4(ADGRV1):c.7945+6C>T rs139278305 0.01100
NM_015102.5(NPHP4):c.2876G>A (p.Arg959Gln) rs12084067 0.01099
NM_005422.4(TECTA):c.4533C>T (p.Phe1511=) rs77628498 0.01098
NM_024989.4(PGAP1):c.2604T>C (p.Asn868=) rs74459402 0.01097
NM_001127649.3(PEX26):c.457C>G (p.Leu153Val) rs12484657 0.01096
NM_001128178.3(NPHP1):c.1529+19C>T rs112090979 0.01096
NM_001267550.2(TTN):c.89317A>T (p.Ile29773Leu) rs77853750 0.01096
NM_016219.5(MAN1B1):c.602C>T (p.Pro201Leu) rs73569515 0.01096
NM_020632.3(ATP6V0A4):c.2307G>A (p.Thr769=) rs61747677 0.01096
NM_001127649.3(PEX26):c.*1778C>T rs79447039 0.01095
NM_024570.4(RNASEH2B):c.189A>G (p.Val63=) rs35595258 0.01095
NM_152617.4(RNF168):c.307G>A (p.Asp103Asn) rs149773824 0.01095
NM_001127649.3(PEX26):c.*1957G>A rs11913772 0.01094
NM_032492.4(JAGN1):c.403G>A (p.Ala135Thr) rs61746084 0.01094
NM_000211.5(ITGB2):c.1002C>T (p.Thr334=) rs61737081 0.01093
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met) rs55865284 0.01093
NM_001351132.2(PEX5):c.1718+13A>G rs116873137 0.01093
NM_001374623.1(PNPLA1):c.1578A>C (p.Lys526Asn) rs35398989 0.01093
NM_020964.3(EPG5):c.1766A>G (p.Gln589Arg) rs61734402 0.01093
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln) rs3219497 0.01092
NM_001145809.2(MYH14):c.4741G>A (p.Val1581Ile) rs680446 0.01091
NM_025074.7(FRAS1):c.3951G>A (p.Leu1317=) rs76107832 0.01090
NM_002160.4(TNC):c.781G>A (p.Gly261Ser) rs61736826 0.01088
NM_033064.5(ATCAY):c.866+6A>G rs116660680 0.01088
NM_012463.4(ATP6V0A2):c.*3654A>G rs77670478 0.01086
NM_182961.4(SYNE1):c.10522T>C (p.Leu3508=) rs62426382 0.01086
NM_001378454.1(ALMS1):c.*154G>C rs77779454 0.01084
NM_001329943.3(KIAA0586):c.2553+11G>A rs78511804 0.01083
NM_201384.3(PLEC):c.5477G>A (p.Arg1826Gln) rs147838690 0.01083
NM_000318.3(PEX2):c.*1601T>A rs116949534 0.01081
NM_004153.4(ORC1):c.1406G>A (p.Cys469Tyr) rs3087483 0.01081
NM_012463.4(ATP6V0A2):c.*1731C>T rs114514797 0.01081
NM_000254.3(MTR):c.3599-10C>A rs41530146 0.01080
NM_001267550.2(TTN):c.105787G>T (p.Ala35263Ser) rs67254537 0.01080
NM_012463.4(ATP6V0A2):c.*2329G>A rs113118376 0.01080
NM_024301.5(FKRP):c.585C>T (p.Asp195=) rs75079578 0.01080
NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val) rs66961115 0.01079
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp) rs36021856 0.01079
NM_002180.3(IGHMBP2):c.2439G>A (p.Ala813=) rs624147 0.01079
NM_001134831.2(AHI1):c.804A>C (p.Ser268=) rs35528530 0.01078
NM_015046.7(SETX):c.*548A>T rs139883935 0.01078
NM_138694.4(PKHD1):c.7298A>T (p.Asp2433Val) rs76895755 0.01078
NM_001378454.1(ALMS1):c.6553C>T (p.Pro2185Ser) rs77555300 0.01077
NM_012233.3(RAB3GAP1):c.*995T>C rs116237324 0.01076
NM_016219.5(MAN1B1):c.1255-5C>T rs73569532 0.01076
NM_001267550.2(TTN):c.104769A>C (p.Thr34923=) rs56375087 0.01075
NM_020632.3(ATP6V0A4):c.417+14G>C rs141824671 0.01075
NM_033064.5(ATCAY):c.810C>T (p.Ile270=) rs61746441 0.01075
NM_000260.4(MYO7A):c.2754C>T (p.Ala918=) rs78072361 0.01074
NM_015311.3(OBSL1):c.3752C>T (p.Pro1251Leu) rs145485683 0.01074
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile) rs55842557 0.01073
NM_024753.5(TTC21B):c.2742C>T (p.Cys914=) rs73018799 0.01072
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn) rs78039319 0.01071
NM_005422.4(TECTA):c.5383+3G>A rs73583199 0.01071
NM_138694.4(PKHD1):c.3876C>T (p.Thr1292=) rs2499482 0.01071
NM_001085429.2(TMEM213):c.8G>A (p.Arg3His) rs138299222 0.01070
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His) rs35433555 0.01070
NM_003332.4(TYROBP):c.*83C>T rs14715 0.01070
NM_003839.4(TNFRSF11A):c.1397G>A (p.Arg466His) rs35993683 0.01070
NM_004565.3(PEX14):c.768G>A (p.Val256=) rs36083022 0.01070
NM_006005.3(WFS1):c.1800C>T (p.Thr600=) rs71524362 0.01070
NM_001267550.2(TTN):c.11019C>T (p.Cys3673=) rs72955212 0.01069
NM_001017420.3(ESCO2):c.-68T>G rs111510470 0.01068
NM_001128228.3(TPRN):c.858C>T (p.Cys286=) rs375619082 0.01068
NM_006846.4(SPINK5):c.1552C>T (p.Arg518Cys) rs115504632 0.01067
NM_015702.3(MMADHC):c.412G>A (p.Glu138Lys) rs61746421 0.01067
NM_015702.3(MMADHC):c.428G>T (p.Ser143Ile) rs34886916 0.01066
NM_138694.4(PKHD1):c.3686G>C (p.Trp1229Ser) rs2499481 0.01066
NM_201384.3(PLEC):c.10058G>C (p.Gly3353Ala) rs35261863 0.01065
NM_001376256.1(CRYM):c.741C>T (p.Tyr247=) rs34045013 0.01064
NM_004525.3(LRP2):c.13134C>G (p.Pro4378=) rs73970129 0.01063
NM_017739.4(POMGNT1):c.1257G>A (p.Leu419=) rs41292143 0.01062
NM_003839.4(TNFRSF11A):c.6C>G (p.Ala2=) rs35589394 0.01059
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr) rs36039758 0.01056
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251 0.01055
NM_000553.6(WRN):c.2631-17A>C rs3087433 0.01054
NM_031466.8(TRAPPC9):c.-11+10G>A rs117206975 0.01054
NM_006846.4(SPINK5):c.3186+8C>T rs115366845 0.01052
NM_021628.3(ALOXE3):c.680+9A>G rs3027214 0.01052
NM_033028.5(BBS4):c.712-17C>G rs150754122 0.01051
NM_001145809.2(MYH14):c.2841C>T (p.Arg947=) rs138987081 0.01050
NM_020632.3(ATP6V0A4):c.1641G>A (p.Leu547=) rs61747675 0.01050
NM_021628.3(ALOXE3):c.555-14C>G rs116310580 0.01050
NM_001127671.2(LIFR):c.*1610T>G rs2731964 0.01049
NM_001256317.3(TMPRSS3):c.952+17A>G rs115489719 0.01047
NM_001329943.3(KIAA0586):c.1230A>G (p.Gly410=) rs10135645 0.01047
NM_020989.4(CRYGC):c.143G>A (p.Arg48His) rs61751949 0.01047
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys) rs142522748 0.01047
NM_001111.5(ADAR):c.1760A>G (p.Tyr587Cys) rs17843865 0.01046
NM_144508.5(KNL1):c.1493T>A (p.Ile498Asn) rs59648663 0.01046
NM_000208.4(INSR):c.1989G>A (p.Ala663=) rs36081066 0.01045
NM_000360.4(TH):c.1200+9C>T rs11564717 0.01045
NM_004525.3(LRP2):c.10804G>A (p.Ala3602Thr) rs144081819 0.01045
NM_022089.4(ATP13A2):c.2763-16G>A rs114407349 0.01044
NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=) rs76576806 0.01043
NM_012233.3(RAB3GAP1):c.357A>G (p.Val119=) rs73959261 0.01043
NM_001267550.2(TTN):c.4347A>G (p.Ser1449=) rs719202 0.01042
NM_018319.4(TDP1):c.*799A>G rs35437984 0.01042
NM_016239.4(MYO15A):c.1791G>A (p.Ala597=) rs114552047 0.01041
NM_003630.3(PEX3):c.*205C>A rs78091135 0.01040
NM_005708.5(GPC6):c.*1094T>A rs9561552 0.01039
NM_001077365.2(POMT1):c.1479C>T (p.Tyr493=) rs62636653 0.01037
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330 0.01037
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112 0.01037
NM_001184.4(ATR):c.891G>C (p.Lys297Asn) rs2229033 0.01036
NM_005708.5(GPC6):c.*672A>G rs116355843 0.01035
NM_052989.3(IFT122):c.1943A>C (p.Glu648Ala) rs144397126 0.01035
NM_001184.4(ATR):c.4002G>A (p.Gln1334=) rs56026468 0.01034
NM_001194998.2(CEP152):c.1577+6G>A rs78525896 0.01033
NM_006721.4(ADK):c.726+11T>G rs45529443 0.01033
NM_182961.4(SYNE1):c.402+11A>G rs80276170 0.01033
NM_001351132.2(PEX5):c.*960C>G rs78134587 0.01032
NM_001267550.2(TTN):c.84453A>G (p.Pro28151=) rs73036373 0.01031
NM_004525.3(LRP2):c.5293G>A (p.Val1765Met) rs116456291 0.01031
NM_021628.3(ALOXE3):c.2032C>T (p.Arg678Cys) rs143246503 0.01031
NM_000083.3(CLCN1):c.461A>G (p.Gln154Arg) rs111482384 0.01028
NM_000352.6(ABCC8):c.2538C>T (p.His846=) rs73423037 0.01028
NM_002485.5(NBN):c.*419C>T rs13312979 0.01028
NM_022124.6(CDH23):c.1515-25T>A rs111309167 0.01028
NM_001081.4(CUBN):c.*45C>T rs7085076 0.01027
NM_025074.7(FRAS1):c.*2811T>A rs114574352 0.01027
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met) rs35889956 0.01026
NM_005236.3(ERCC4):c.2655G>A (p.Thr885=) rs16963255 0.01026
NM_000318.3(PEX2):c.*1242A>G rs73691481 0.01024
NM_020366.4(RPGRIP1):c.2417C>T (p.Thr806Ile) rs142796310 0.01022
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr) rs11466045 0.01021
NM_001017420.3(ESCO2):c.510G>A (p.Val170=) rs112031297 0.01021
NM_004525.3(LRP2):c.9033-8T>C rs140148483 0.01021
NM_001145809.2(MYH14):c.5466G>A (p.Leu1822=) rs10419343 0.01020
NM_001184.4(ATR):c.5868C>T (p.Tyr1956=) rs112018640 0.01020
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile) rs72646850 0.01020
NM_178170.3(NEK8):c.*637C>G rs114191927 0.01020
NM_000318.3(PEX2):c.*2306A>G rs59296540 0.01019
NM_001077365.2(POMT1):c.1125C>T (p.His375=) rs35242383 0.01019
NM_000318.3(PEX2):c.*2554G>A rs116215385 0.01018
NM_003193.5(TBCE):c.998G>C (p.Ser333Thr) rs35579976 0.01018
NM_001013693.3(LDLRAD2):c.*365G>A rs116354301 0.01017
NM_022095.4(ZNF335):c.1102+9T>C rs112458662 0.01017
NM_032119.4(ADGRV1):c.-47G>C rs116110048 0.01017
NM_006846.4(SPINK5):c.1764T>G (p.Ile588Met) rs35877540 0.01015
NM_018718.3(CEP41):c.*3783T>C rs117071818 0.01015
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met) rs73038314 0.01013
NM_025074.7(FRAS1):c.7074C>T (p.Gly2358=) rs7660641 0.01013
NM_001267550.2(TTN):c.19004A>G (p.Asp6335Gly) rs72648951 0.01012
NM_016122.3(CEP83):c.437C>T (p.Ala146Val) rs115988985 0.01012
NM_025074.7(FRAS1):c.6124C>T (p.Pro2042Ser) rs60539739 0.01012
NM_144596.4(TTC8):c.*493T>C rs60082659 0.01012
NM_002473.6(MYH9):c.1626C>T (p.Phe542=) rs7285745 0.01011
NM_032575.3(GLIS2):c.*1130G>A rs7197512 0.01011
NM_001098484.3(SLC4A4):c.*2416A>G rs16846678 0.01010
NM_000352.6(ABCC8):c.423G>A (p.Val141=) rs116132921 0.01009
NM_015102.5(NPHP4):c.1852G>A (p.Glu618Lys) rs571655 0.01009
NM_016042.4(EXOSC3):c.*296T>C rs138197600 0.01009
NM_198428.3(BBS9):c.2299-20A>C rs17727583 0.01007
NM_001081.4(CUBN):c.8741C>T (p.Ala2914Val) rs45551835 0.01006
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=) rs55961436 0.01005
NM_022336.4(EDAR):c.*1107C>T rs73952545 0.01003
NM_000441.2(SLC26A4):c.1002-9A>C rs10234822 0.01002
NM_015602.4(TOR1AIP1):c.909T>C (p.Asn303=) rs115742637 0.01001
NM_024753.5(TTC21B):c.*974C>G rs145794135 0.01001
NM_032193.4(RNASEH2C):c.*1007C>G rs112903919 0.01000
NM_004525.3(LRP2):c.5085G>A (p.Ser1695=) rs145384264 0.00999
NM_022124.6(CDH23):c.3574G>A (p.Val1192Ile) rs80028391 0.00999
NM_001077365.2(POMT1):c.1825+19del rs11345097 0.00998
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe) rs140118273 0.00997
NM_000123.4(ERCC5):c.-200G>C rs76752300 0.00995
NM_005529.7(HSPG2):c.5742C>T (p.His1914=) rs62642522 0.00995
NM_153717.3(EVC):c.385-16C>T rs113571700 0.00995
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_000163.5(GHR):c.1098A>G (p.Leu366=) rs116466139 0.00992
NM_001367624.2(ZNF469):c.4926G>A (p.Ser1642=) rs117310292 0.00992
NM_033064.5(ATCAY):c.*2514A>G rs142048723 0.00992
NM_213599.3(ANO5):c.1029C>T (p.Asp343=) rs78899595 0.00992
NM_198999.3(SLC26A5):c.989A>G (p.Asn330Ser) rs117444825 0.00990
NM_000208.4(INSR):c.1098T>C (p.Ser366=) rs2229435 0.00988
NM_025074.7(FRAS1):c.10278C>T (p.Ile3426=) rs34678339 0.00987
NM_139319.3(SLC17A8):c.54G>A (p.Lys18=) rs11568528 0.00987
NM_014363.6(SACS):c.10305T>C (p.Ser3435=) rs35670472 0.00986
NM_024685.4(BBS10):c.*87A>C rs138936387 0.00985
NM_025074.7(FRAS1):c.8959-11A>G rs112232078 0.00985
NM_002160.4(TNC):c.1642G>A (p.Val548Met) rs61729478 0.00984
NM_024570.4(RNASEH2B):c.156G>A (p.Leu52=) rs35416748 0.00984
NM_206933.4(USH2A):c.4440C>T (p.Ser1480=) rs111632670 0.00984
NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys) rs147266709 0.00982
NM_015102.5(NPHP4):c.3876C>T (p.Gly1292=) rs115526767 0.00982
NM_052989.3(IFT122):c.1854C>T (p.Ser618=) rs146874343 0.00981
NM_001077365.2(POMT1):c.78G>A (p.Gly26=) rs149554732 0.00980
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile) rs59252892 0.00979
NM_013335.4(GMPPA):c.40+15G>A rs80239182 0.00978
NM_014363.6(SACS):c.12762C>T (p.Ser4254=) rs11554397 0.00978
NM_005529.7(HSPG2):c.5702-5G>A rs2290498 0.00977
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn) rs35287723 0.00977
NM_201384.3(PLEC):c.10986C>T (p.Thr3662=) rs35134741 0.00977
NM_173551.5(ANKS6):c.585G>A (p.Leu195=) rs75634918 0.00976
NM_206933.4(USH2A):c.7584C>T (p.Thr2528=) rs78250390 0.00976
NM_000019.3(ACAT1):c.*293A>T rs73559273 0.00975
NM_173551.5(ANKS6):c.1767G>A (p.Ala589=) rs115807585 0.00974
NM_000231.3(SGCG):c.435C>T (p.Asn145=) rs35628352 0.00973
NM_002618.4(PEX13):c.*1943G>A rs183689971 0.00973
NM_015702.3(MMADHC):c.*164A>G rs147662711 0.00973
NM_017791.3(FLVCR2):c.-111T>C rs80001297 0.00973
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln) rs34819099 0.00971
NM_173477.5(USH1G):c.*940C>G rs112293979 0.00971
NM_213599.3(ANO5):c.604G>A (p.Glu202Lys) rs115750596 0.00971
NM_017755.6(NSUN2):c.*581T>C rs142451419 0.00970
NM_201253.3(CRB1):c.2677-8C>T rs73071678 0.00970
NM_001379286.1(ZNF423):c.711C>T (p.Arg237=) rs16947744 0.00969
NM_005982.4(SIX1):c.*1496C>T rs61993831 0.00969
NM_153717.3(EVC):c.2505G>A (p.Ser835=) rs115976359 0.00969
NM_182961.4(SYNE1):c.23743G>A (p.Asp7915Asn) rs76699382 0.00969
NM_201384.3(PLEC):c.2832C>T (p.Gly944=) rs145050858 0.00969
NM_000019.3(ACAT1):c.*507G>A rs12271846 0.00968
NM_000334.4(SCN4A):c.*1989C>T rs77615646 0.00968
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys) rs12471771 0.00967
NM_006892.4(DNMT3B):c.1150G>A (p.Ala384Thr) rs150682895 0.00967
NM_182961.4(SYNE1):c.18801C>T (p.Thr6267=) rs116007471 0.00967
NM_001267550.2(TTN):c.82575G>A (p.Thr27525=) rs11896779 0.00966
NM_002473.6(MYH9):c.*243C>T rs136201 0.00965
NM_002485.5(NBN):c.1124+19C>T rs13312903 0.00965
NM_001184.4(ATR):c.6339A>G (p.Val2113=) rs7635479 0.00964
NM_000260.4(MYO7A):c.*442T>C rs115238711 0.00963
NM_025074.7(FRAS1):c.518G>A (p.Arg173Gln) rs147332320 0.00963
NM_206933.4(USH2A):c.13763C>A (p.Ser4588Tyr) rs78253373 0.00962
NM_001042545.2(LTBP4):c.2175C>T (p.Cys725=) rs141810975 0.00961
NM_001384474.1(LOXHD1):c.1742T>C (p.Val581Ala) rs35007621 0.00961
NM_001083961.2(WDR62):c.1642+8C>T rs143309981 0.00960
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=) rs34617762 0.00959
NM_002473.6(MYH9):c.1108+9C>T rs145751072 0.00959
NM_015046.7(SETX):c.-124C>T rs114850064 0.00959
NM_021942.6(TRAPPC11):c.660+18A>G rs116374103 0.00959
NM_000057.4(BLM):c.419A>G (p.Glu140Gly) rs35886055 0.00958
NM_001267550.2(TTN):c.17741-9A>G rs72648944 0.00958
NM_021942.6(TRAPPC11):c.832-9A>G rs114748616 0.00958
NM_025216.3(WNT10A):c.817C>A (p.Leu273Ile) rs111903177 0.00958
NM_025216.3(WNT10A):c.85C>T (p.Leu29=) rs115839019 0.00957
NM_206933.4(USH2A):c.12445T>C (p.Trp4149Arg) rs115884084 0.00956
NM_002485.5(NBN):c.797C>T (p.Pro266Leu) rs769420 0.00955
NM_004525.3(LRP2):c.1172-8G>A rs115371758 0.00955
NM_005219.5(DIAPH1):c.3765G>A (p.Glu1255=) rs35755269 0.00955
NM_005881.4(BCKDK):c.845+10C>T rs74015068 0.00955
NM_022098.4(XPNPEP3):c.*6055A>C rs73412774 0.00955
NM_001083961.2(WDR62):c.2975C>T (p.Ser992Leu) rs74518295 0.00953
NM_001143992.2(WRAP53):c.1359C>T (p.Pro453=) rs35082161 0.00953
NM_005529.7(HSPG2):c.9540G>A (p.Ala3180=) rs62642506 0.00953
NM_018136.5(ASPM):c.7917A>G (p.Lys2639=) rs112647911 0.00953
NM_207361.6(FREM2):c.6339C>T (p.Pro2113=) rs116383837 0.00953
NM_004525.3(LRP2):c.1167T>G (p.Asp389Glu) rs111704488 0.00952
NM_020631.6(PLEKHG5):c.2331C>T (p.Ser777=) rs61749272 0.00952
NM_001367624.2(ZNF469):c.9004A>C (p.Met3002Leu) rs141776185 0.00951
NM_015294.6(TRIM37):c.*373A>G rs145973955 0.00951
NM_000208.4(INSR):c.909G>A (p.Gln303=) rs9282757 0.00950
NM_022124.6(CDH23):c.1038G>A (p.Pro346=) rs74608315 0.00950
NM_203486.3(DLL3):c.1674-10C>T rs116099821 0.00950
NM_018136.5(ASPM):c.7353G>A (p.Leu2451=) rs111487086 0.00949
NM_144508.5(KNL1):c.3810G>A (p.Ala1270=) rs34758606 0.00949
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=) rs61748766 0.00948
NM_001283009.2(RTEL1):c.936G>A (p.Leu312=) rs41302954 0.00947
NM_004393.6(DAG1):c.2231G>C (p.Ser744Thr) rs114357468 0.00947
NM_022124.6(CDH23):c.7630T>C (p.Leu2544=) rs114819374 0.00947
NM_002180.3(IGHMBP2):c.223G>A (p.Ala75Thr) rs2228206 0.00946
NM_016373.4(WWOX):c.885G>A (p.Arg295=) rs79771882 0.00946
NM_020964.3(EPG5):c.1271G>A (p.Ser424Asn) rs117817123 0.00946
NM_024753.5(TTC21B):c.2462-19A>C rs146509360 0.00946
NM_000286.3(PEX12):c.733T>A (p.Leu245Ile) rs12941376 0.00945
NM_002485.5(NBN):c.*1013G>A rs13312984 0.00945
NM_005529.7(HSPG2):c.831C>T (p.Pro277=) rs41310388 0.00944
NM_182961.4(SYNE1):c.5429C>T (p.Ala1810Val) rs76393834 0.00944
NM_016219.5(MAN1B1):c.347A>G (p.Glu116Gly) rs115335100 0.00943
NM_170784.3(MKKS):c.-58T>C rs114068950 0.00943
NM_201384.3(PLEC):c.12360G>A (p.Pro4120=) rs146781600 0.00943
NM_207361.6(FREM2):c.*5019A>T rs76274648 0.00943
NM_020632.3(ATP6V0A4):c.735T>C (p.Thr245=) rs77328827 0.00942
NM_000019.4(ACAT1):c.978A>C (p.Pro326=) rs73559264 0.00941
NM_005236.3(ERCC4):c.252C>T (p.Leu84=) rs3136056 0.00941
NM_001256317.3(TMPRSS3):c.617-18C>T rs225431 0.00940
NM_004415.4(DSP):c.6390T>C (p.Ala2130=) rs28763969 0.00940
NM_020964.3(EPG5):c.6516C>T (p.Tyr2172=) rs114665741 0.00940
NM_001367624.2(ZNF469):c.1697C>T (p.Ala566Val) rs181785233 0.00939
NM_004525.3(LRP2):c.11346C>T (p.Asn3782=) rs7598640 0.00939
NM_003701.4(TNFSF11):c.147C>T (p.Phe49=) rs61735535 0.00938
NM_014053.4(FLVCR1):c.*1544A>G rs6685793 0.00936
NM_000083.3(CLCN1):c.450C>T (p.Tyr150=) rs56307536 0.00935
NM_139343.3(BIN1):c.1263+11C>T rs78967885 0.00935
NM_182961.4(SYNE1):c.12061T>C (p.Cys4021Arg) rs111449472 0.00935
NM_000123.4(ERCC5):c.2636A>G (p.Asn879Ser) rs4150342 0.00934
NM_001171.6(ABCC6):c.487G>A (p.Asp163Asn) rs192110266 0.00934
NM_001013693.3(LDLRAD2):c.*671C>T rs141025054 0.00933
NM_003701.4(TNFSF11):c.*704G>A rs34886516 0.00933
NM_025074.7(FRAS1):c.11720G>T (p.Gly3907Val) rs61748815 0.00933
NM_000123.4(ERCC5):c.960C>T (p.Asp320=) rs4150314 0.00931
NM_001367624.2(ZNF469):c.2814G>A (p.Ala938=) rs140480823 0.00931
NM_012463.4(ATP6V0A2):c.777G>A (p.Arg259=) rs73420336 0.00931
NM_024596.5(MCPH1):c.2453-14C>T rs17077744 0.00931
NM_201384.3(PLEC):c.887G>A (p.Arg296Gln) rs138924815 0.00931
NM_000165.5(GJA1):c.758C>T (p.Ala253Val) rs17653265 0.00930
NM_016464.5(TMEM138):c.-24G>A rs116455434 0.00930
NM_000208.4(INSR):c.*3463A>G rs115358150 0.00928
NM_000083.3(CLCN1):c.1309G>A (p.Ala437Thr) rs41276054 0.00927
NM_025074.7(FRAS1):c.10269G>T (p.Pro3423=) rs34806279 0.00927
NM_020458.4(TTC7A):c.640T>C (p.Leu214=) rs57585816 0.00926
NM_031471.6(FERMT3):c.405C>T (p.His135=) rs78810429 0.00926
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_001139.3(ALOX12B):c.280G>A (p.Gly94Ser) rs8077661 0.00924
NM_003860.4(BANF1):c.*128C>A rs144367403 0.00924
NM_033064.5(ATCAY):c.*486A>C rs115839391 0.00924
NM_000553.6(WRN):c.2732+19A>G rs77434316 0.00923
NM_032575.3(GLIS2):c.1259C>T (p.Pro420Leu) rs75495782 0.00923
NM_001039141.3(TRIOBP):c.3089C>G (p.Pro1030Arg) rs193043234 0.00922
NM_213599.3(ANO5):c.616A>G (p.Thr206Ala) rs78266558 0.00922
NM_000553.6(WRN):c.2241T>G (p.Leu747=) rs2230011 0.00921
NM_021942.6(TRAPPC11):c.1422-3G>A rs73872662 0.00921
NM_138694.4(PKHD1):c.391-43T>A rs116414807 0.00920
NM_201384.3(PLEC):c.8489A>G (p.Tyr2830Cys) rs199720608 0.00920
NM_025216.3(WNT10A):c.*431C>T rs77272502 0.00919
NM_025132.4(WDR19):c.1607G>C (p.Ser536Thr) rs115348383 0.00917
NM_000083.3(CLCN1):c.2136T>C (p.Asp712=) rs73726622 0.00916
NM_018075.5(ANO10):c.-90C>T rs565644253 0.00916
NM_020661.4(AICDA):c.210A>G (p.Leu70=) rs104894984 0.00916
NM_033064.5(ATCAY):c.*3154C>T rs116311313 0.00916
NM_138694.4(PKHD1):c.888A>T (p.Pro296=) rs76012218 0.00916
NM_182961.4(SYNE1):c.12057G>A (p.Ala4019=) rs144596829 0.00916
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=) rs62178963 0.00915
NM_001378454.1(ALMS1):c.5463G>A (p.Pro1821=) rs62151609 0.00915
NM_025074.7(FRAS1):c.10002G>A (p.Glu3334=) rs80346282 0.00915
NM_000083.3(CLCN1):c.1797-9C>T rs41276057 0.00913
NM_000023.4(SGCA):c.528C>T (p.Thr176=) rs1801190 0.00912
NM_004565.3(PEX14):c.959G>A (p.Arg320Lys) rs12070353 0.00912
NM_213599.3(ANO5):c.*1429A>G rs78143145 0.00911
NM_001081.4(CUBN):c.4872C>T (p.Ile1624=) rs114958584 0.00910
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528 0.00910
NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu) rs72629787 0.00909
NM_025074.7(FRAS1):c.4940C>T (p.Thr1647Ile) rs34271211 0.00909
NM_182961.4(SYNE1):c.3804G>A (p.Leu1268=) rs139524103 0.00909
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625 0.00908
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_182961.4(SYNE1):c.9165C>A (p.Ser3055=) rs117020413 0.00908
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109 0.00907
NM_016042.4(EXOSC3):c.-12G>C rs115431773 0.00907
NM_004836.7(EIF2AK3):c.1756A>T (p.Ile586Leu) rs75385605 0.00906
NM_153240.5(NPHP3):c.450G>A (p.Ala150=) rs78527322 0.00906
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser) rs61734468 0.00905
NM_021252.5(RAB18):c.*278A>T rs41282848 0.00905
NM_052989.3(IFT122):c.2682G>A (p.Ala894=) rs61741773 0.00905
NM_147127.5(EVC2):c.1311A>G (p.Leu437=) rs77131452 0.00904
NM_004565.3(PEX14):c.213C>G (p.Gly71=) rs41274482 0.00899
NM_005529.7(HSPG2):c.10702G>A (p.Val3568Ile) rs115616224 0.00899
NM_005529.7(HSPG2):c.13119C>T (p.Pro4373=) rs2229477 0.00898
NM_182961.4(SYNE1):c.26209G>A (p.Gly8737Ser) rs2295191 0.00898
NM_003701.4(TNFSF11):c.*742G>A rs139327529 0.00897
NM_005529.7(HSPG2):c.1167C>T (p.Asp389=) rs145101074 0.00897
NM_024301.5(FKRP):c.249C>T (p.Ala83=) rs149030303 0.00897
NM_138694.4(PKHD1):c.7733+43G>A rs141811489 0.00897
NM_000660.7(TGFB1):c.355+5G>A rs11466318 0.00894
NM_001042545.2(LTBP4):c.1968C>T (p.Pro656=) rs140927310 0.00894
NM_001127671.2(LIFR):c.*1484A>G rs75368466 0.00893
NM_001367624.2(ZNF469):c.4884G>A (p.Thr1628=) rs141666432 0.00893
NM_207361.6(FREM2):c.6036C>T (p.Phe2012=) rs115455037 0.00893
NM_016219.5(MAN1B1):c.1932C>T (p.Val644=) rs34355967 0.00892
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr) rs61995747 0.00892
NM_000208.4(INSR):c.2718T>C (p.Ala906=) rs2229433 0.00891
NM_002693.3(POLG):c.1586-5del rs2307434 0.00891
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_021942.6(TRAPPC11):c.145G>C (p.Val49Leu) rs141909783 0.00888
NM_001374623.1(PNPLA1):c.1166T>C (p.Leu389Pro) rs59882043 0.00887
NM_182961.4(SYNE1):c.10827A>C (p.Gln3609His) rs79486252 0.00887
NM_000070.3(CAPN3):c.73C>T (p.His25Tyr) rs61735534 0.00885
NM_000271.5(NPC1):c.-32C>T rs114070977 0.00885
NM_006996.3(SLC19A2):c.*1421A>G rs74121673 0.00885
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_016938.5(EFEMP2):c.*403C>G rs77540033 0.00883
NM_025132.4(WDR19):c.2096G>A (p.Arg699Gln) rs138529452 0.00883
NM_001367624.2(ZNF469):c.2370G>A (p.Leu790=) rs147859144 0.00882
NM_152384.3(BBS5):c.285C>T (p.Leu95=) rs6752540 0.00882
NM_021252.5(RAB18):c.*758A>T rs10508722 0.00879
NM_152384.3(BBS5):c.501T>A (p.Val167=) rs75690869 0.00879
NM_000067.3(CA2):c.*303C>T rs150089617 0.00878
NM_001145809.2(MYH14):c.5334T>C (p.Gly1778=) rs115844649 0.00878
NM_022336.4(EDAR):c.736G>A (p.Val246Met) rs79798733 0.00877
NM_000211.5(ITGB2):c.329-6C>T rs9983887 0.00876
NM_178170.3(NEK8):c.*19T>C rs75850216 0.00876
NM_000243.3(MEFV):c.1261-11T>G rs77086855 0.00875
NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn) rs79040751 0.00875
NM_000466.3(PEX1):c.812A>G (p.Asn271Ser) rs138183109 0.00874
NM_001042545.2(LTBP4):c.2812+6C>T rs190107102 0.00874
NM_002473.6(MYH9):c.2038-5T>C rs8137674 0.00874
NM_000760.4(CSF3R):c.1794C>T (p.Ile598=) rs3917998 0.00872
NM_198428.3(BBS9):c.1562G>A (p.Arg521Gln) rs34218557 0.00872
NM_207361.6(FREM2):c.4901C>T (p.Thr1634Met) rs74781600 0.00872
NM_031471.6(FERMT3):c.1030-12G>C rs77762249 0.00871
NM_198428.3(BBS9):c.555C>T (p.Ala185=) rs35440033 0.00871
NM_001127671.2(LIFR):c.*394C>A rs115958115 0.00870
NM_001384140.1(PCDH15):c.1360G>A (p.Val454Ile) rs61735473 0.00870
NM_005529.7(HSPG2):c.5442G>A (p.Leu1814=) rs115087461 0.00870
NM_001127671.2(LIFR):c.*546A>C rs3822427 0.00868
NM_006892.4(DNMT3B):c.*75C>G rs6119971 0.00868
NM_000441.2(SLC26A4):c.*11G>A rs113496951 0.00867
NM_014918.5(CHSY1):c.114C>T (p.Gly38=) rs773533401 0.00867
NM_022098.4(XPNPEP3):c.*809C>A rs57486044 0.00866
NM_032575.3(GLIS2):c.70C>A (p.Arg24=) rs34543395 0.00866
NM_001127671.2(LIFR):c.*1870G>A rs60287085 0.00865
NM_018136.5(ASPM):c.8820+7C>G rs115045814 0.00865
NM_000243.3(MEFV):c.2118G>A (p.Pro706=) rs2234939 0.00864
NM_005866.4(SIGMAR1):c.622C>T (p.Arg208Trp) rs11559048 0.00864
NM_147127.5(EVC2):c.692A>G (p.Lys231Arg) rs114024753 0.00863
NM_001128178.3(NPHP1):c.772-17G>A rs146343637 0.00862
NM_006208.3(ENPP1):c.*400C>A rs55828988 0.00861
NM_004100.5(EYA4):c.905G>A (p.Gly302Asp) rs75133151 0.00860
NM_025074.7(FRAS1):c.*708C>A rs111636328 0.00860
NM_052989.3(IFT122):c.2415C>T (p.Arg805=) rs61744218 0.00860
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) rs17006082 0.00860
NM_001127671.2(LIFR):c.*1459T>G rs75965322 0.00858
NM_015311.3(OBSL1):c.1512C>T (p.Thr504=) rs138262993 0.00857
NM_006846.4(SPINK5):c.2905A>G (p.Lys969Glu) rs3188691 0.00856
NM_194292.3(SASS6):c.735A>G (p.Gln245=) rs150364529 0.00856
NM_001044385.3(TMEM237):c.*1489G>C rs78220061 0.00855
NM_001127671.2(LIFR):c.*324G>A rs3797156 0.00855
NM_020247.5(COQ8A):c.*790A>G rs12565212 0.00855
NM_004100.5(EYA4):c.1845C>T (p.Asn615=) rs142721902 0.00854
NM_006208.3(ENPP1):c.*1224A>G rs115623040 0.00854
NM_032575.3(GLIS2):c.*278C>T rs116692282 0.00854
NM_001127671.2(LIFR):c.1732G>A (p.Asp578Asn) rs3729740 0.00852
NM_033028.5(BBS4):c.180A>G (p.Gln60=) rs114434361 0.00852
NM_201384.3(PLEC):c.1752C>T (p.Pro584=) rs185978075 0.00852
NM_000163.5(GHR):c.-39G>C rs527709793 0.00851
NM_000320.3(QDPR):c.436+19A>G rs112111831 0.00851
NM_001127671.2(LIFR):c.*1005A>G rs3776424 0.00851
NM_003619.4(PRSS12):c.*1595A>G rs145858385 0.00851
NM_020458.4(TTC7A):c.873G>C (p.Leu291=) rs113997845 0.00851
NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg) rs73074138 0.00851
NM_000254.3(MTR):c.2474-19T>A rs11809449 0.00849
NM_001171.6(ABCC6):c.3289C>A (p.Leu1097Ile) rs60707953 0.00849
NM_000334.4(SCN4A):c.489C>G (p.Thr163=) rs146590697 0.00848
NM_001039141.3(TRIOBP):c.*3-4T>C rs145222008 0.00848
NM_000211.5(ITGB2):c.1756C>T (p.Arg586Trp) rs5030672 0.00847
NM_025132.4(WDR19):c.1581C>A (p.Thr527=) rs114689848 0.00847
NM_032193.4(RNASEH2C):c.*1295T>C rs4645937 0.00847
NM_002617.4(PEX10):c.843G>A (p.Arg281=) rs35082957 0.00846
NM_006005.3(WFS1):c.930A>G (p.Ala310=) rs115561278 0.00845
NM_017433.5(MYO3A):c.3094G>A (p.Ala1032Thr) rs34918608 0.00845
NM_006721.4(ADK):c.195-18A>G rs144492760 0.00844
NM_020964.3(EPG5):c.3279C>T (p.Ser1093=) rs72918350 0.00844
NM_138694.4(PKHD1):c.1603-28T>C rs73435705 0.00844
NM_003701.4(TNFSF11):c.396A>G (p.Gln132=) rs34151971 0.00843
NM_018136.5(ASPM):c.7023C>T (p.Ile2341=) rs115891952 0.00843
NM_176824.3(BBS7):c.*1202G>A rs3217756 0.00843
NM_006846.4(SPINK5):c.2241-6C>T rs190365795 0.00842
NM_012188.5(FOXI1):c.1014G>A (p.Ala338=) rs55685928 0.00841
NM_139343.3(BIN1):c.1625A>G (p.Lys542Arg) rs138047593 0.00841
NM_182961.4(SYNE1):c.10022T>C (p.Val3341Ala) rs138693624 0.00841
NM_000019.3(ACAT1):c.*214G>C rs145690535 0.00839
NM_145861.4(EDARADD):c.*966A>G rs61740489 0.00838
NM_001384140.1(PCDH15):c.475-3C>T rs41304641 0.00837
NM_000302.4(PLOD1):c.77-3370G>A rs112799470 0.00836
NM_145861.4(EDARADD):c.*1174A>G rs61511776 0.00836
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu) rs115658240 0.00835
NM_001382391.1(CSPP1):c.1977T>C (p.Thr659=) rs114177619 0.00835
NM_001134793.2(HYLS1):c.273G>T (p.Lys91Asn) rs78786765 0.00834
NM_004525.3(LRP2):c.11996T>G (p.Val3999Gly) rs79723119 0.00834
NM_006118.4(HAX1):c.53+14C>T rs115683875 0.00834
NM_024596.5(MCPH1):c.1738A>G (p.Ser580Gly) rs17076894 0.00834
NM_000083.3(CLCN1):c.1065-16T>C rs113764654 0.00833
NM_001081.4(CUBN):c.6561G>A (p.Ser2187=) rs11254278 0.00833
NM_001098484.3(SLC4A4):c.*1206A>G rs72854469 0.00833
NM_207361.6(FREM2):c.*5344T>G rs7327183 0.00833
NM_000163.5(GHR):c.*693G>A rs113937917 0.00831
NM_001267550.2(TTN):c.33340+10T>C rs72650039 0.00830
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp) rs72563785 0.00830
NM_017791.3(FLVCR2):c.835C>T (p.Pro279Ser) rs45479302 0.00830
NM_020631.6(PLEKHG5):c.30C>T (p.Asp10=) rs114209691 0.00830
NM_206933.4(USH2A):c.14333C>A (p.Ala4778Asp) rs113447586 0.00830
NM_022095.4(ZNF335):c.3800C>A (p.Pro1267Gln) rs113958814 0.00829
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys) rs55861600 0.00828
NM_005219.5(DIAPH1):c.621-19T>C rs181224861 0.00828
NM_005529.7(HSPG2):c.12801G>T (p.Gly4267=) rs79386413 0.00828
NM_001267550.2(TTN):c.71940G>A (p.Leu23980=) rs72646893 0.00826
NM_001267550.2(TTN):c.79689C>A (p.Val26563=) rs10185798 0.00826
NM_022168.4(IFIH1):c.177T>C (p.Val59=) rs115500208 0.00826
NM_012233.3(RAB3GAP1):c.2463C>T (p.Phe821=) rs61748693 0.00825
NM_005708.5(GPC6):c.-137C>T rs188450235 0.00824
NM_014028.4(OSTM1):c.*2138G>T rs115370044 0.00824
NM_000057.4(BLM):c.*108C>T rs28363374 0.00823
NM_207361.6(FREM2):c.3753C>T (p.Ser1251=) rs78099370 0.00823
NM_004525.3(LRP2):c.2175C>T (p.Thr725=) rs141180155 0.00820
NM_006208.3(ENPP1):c.*4248G>A rs150587148 0.00820
NM_002230.4(JUP):c.2047-14C>G rs116666639 0.00819
NM_000557.5(GDF5):c.*468G>A rs79051206 0.00818
NM_001378454.1(ALMS1):c.2661A>G (p.Val887=) rs76266696 0.00818
NM_020779.4(WDR35):c.1089G>A (p.Thr363=) rs79829477 0.00817
NM_001077365.2(POMT1):c.1826-6C>A rs140258585 0.00816
NM_001077365.2(POMT1):c.1826-7C>A rs148180760 0.00816
NM_182961.4(SYNE1):c.25246+18A>C rs11756479 0.00816
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=) rs150138016 0.00815
NM_144508.5(KNL1):c.5151T>C (p.Pro1717=) rs74377704 0.00815
NM_001378454.1(ALMS1):c.8835C>G (p.Asn2945Lys) rs35062203 0.00814
NM_031885.5(BBS2):c.*316A>G rs17341965 0.00814
NM_001184.4(ATR):c.268C>T (p.His90Tyr) rs28897763 0.00813
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys) rs45578741 0.00813
NM_000124.4(ERCC6):c.*3395A>C rs142122327 0.00812
NM_004560.4(ROR2):c.471G>A (p.Thr157=) rs78781083 0.00812
NM_001384140.1(PCDH15):c.4367+88A>G rs45466098 0.00811
NM_005422.4(TECTA):c.6250+4T>C rs143302176 0.00811
NM_001367624.2(ZNF469):c.10034G>A (p.Arg3345His) rs79339739 0.00810
NM_003332.4(TYROBP):c.163G>T (p.Val55Leu) rs77782321 0.00810
NM_001194998.2(CEP152):c.2378G>T (p.Ser793Ile) rs2289178 0.00809
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=) rs55806007 0.00808
NM_018136.5(ASPM):c.5185C>T (p.Arg1729Trp) rs41299623 0.00808
NM_000057.4(BLM):c.2824-221G>A rs28385073 0.00807
NM_144596.4(TTC8):c.625-5C>T rs137853922 0.00807
NM_001329943.3(KIAA0586):c.3920A>G (p.Asp1307Gly) rs3783697 0.00806
NM_006019.4(TCIRG1):c.1672G>C (p.Val558Leu) rs35089741 0.00806
NM_020458.4(TTC7A):c.2152+20T>C rs13001154 0.00805
NM_001083961.2(WDR62):c.2991C>T (p.Ala997=) rs77898819 0.00804
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp) rs35799469 0.00804
NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu) rs61910685 0.00804
NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys) rs112822975 0.00803
NM_001081.4(CUBN):c.6788T>G (p.Phe2263Cys) rs2271460 0.00803
NM_207361.6(FREM2):c.*2375C>G rs114706463 0.00802
NM_012414.4(RAB3GAP2):c.*1130A>G rs548918189 0.00800
NM_020631.6(PLEKHG5):c.*63C>T rs45446394 0.00800
NM_001267550.2(TTN):c.86301G>A (p.Lys28767=) rs56310931 0.00799
NM_024753.5(TTC21B):c.1965G>A (p.Arg655=) rs16822802 0.00798
NM_000208.4(INSR):c.262T>C (p.Leu88=) rs61736580 0.00797
NM_022773.4(LMF1):c.1292C>A (p.Ala431Asp) rs115416993 0.00797
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_002180.3(IGHMBP2):c.1757-18C>A rs77247855 0.00796
NM_000360.4(TH):c.487+3G>A rs11042950 0.00795
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe) rs62109744 0.00795
NM_002180.3(IGHMBP2):c.*22C>T rs80298715 0.00795
NM_000231.3(SGCG):c.*10G>A rs139369964 0.00794
NM_000466.3(PEX1):c.2901G>A (p.Gln967=) rs111704518 0.00792
NM_000782.5(CYP24A1):c.*716G>A rs75213738 0.00792
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=) rs7573406 0.00792
NM_016239.4(MYO15A):c.6796G>A (p.Val2266Met) rs114274755 0.00791
NM_032575.3(GLIS2):c.894C>T (p.Pro298=) rs112926217 0.00791
NM_001814.6(CTSC):c.825C>T (p.Thr275=) rs2230081 0.00790
NM_004525.3(LRP2):c.13803G>A (p.Met4601Ile) rs34564141 0.00790
NM_005708.5(GPC6):c.*271T>A rs114342753 0.00790
NM_000320.3(QDPR):c.96C>T (p.Ala32=) rs2518608 0.00789
NM_000414.4(HSD17B4):c.740-16T>G rs35416500 0.00789
NM_001081.4(CUBN):c.10039G>A (p.Gly3347Arg) rs146027947 0.00789
NM_153676.4(USH1C):c.2499C>T (p.Ile833=) rs34581703 0.00789
NM_201384.3(PLEC):c.11720C>T (p.Thr3907Met) rs78461695 0.00787
NM_004393.6(DAG1):c.2271C>T (p.Ala757=) rs78281659 0.00786
NM_005529.7(HSPG2):c.8929C>T (p.Arg2977Trp) rs114851469 0.00786
NM_020631.6(PLEKHG5):c.*108G>A rs11800788 0.00786
NM_001171.6(ABCC6):c.4254G>A (p.Arg1418=) rs58668703 0.00784
NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His) rs111033470 0.00784
NM_147127.5(EVC2):c.*394A>G rs138063943 0.00784
NM_207361.6(FREM2):c.1518C>T (p.Ser506=) rs141821695 0.00784
NM_025074.7(FRAS1):c.1710C>T (p.Pro570=) rs17003124 0.00783
NM_000441.2(SLC26A4):c.1488C>T (p.Leu496=) rs77407094 0.00782
NM_001814.6(CTSC):c.-62C>T rs139541967 0.00782
NM_022336.4(EDAR):c.57T>A (p.Ser19=) rs28407350 0.00782
NM_001382391.1(CSPP1):c.3110-11A>G rs148930801 0.00781
NM_021628.3(ALOXE3):c.2019C>T (p.Ala673=) rs148295244 0.00781
NM_194248.3(OTOF):c.1723G>A (p.Val575Met) rs55676840 0.00781
NM_000083.3(CLCN1):c.302-4C>T rs113839156 0.00780
NM_018136.5(ASPM):c.7565T>G (p.Leu2522Ter) rs62624965 0.00780
NM_148919.4(PSMB8):c.148-18C>T rs147016287 0.00780
NM_000277.3(PAH):c.1242C>T (p.Tyr414=) rs1801152 0.00779
NM_001145809.2(MYH14):c.3663C>T (p.Asn1221=) rs78573213 0.00779
NM_001692.4(ATP6V1B1):c.144C>T (p.Asn48=) rs144845223 0.00779
NM_138691.3(TMC1):c.*28A>C rs151157872 0.00779
NM_001267550.2(TTN):c.6727G>T (p.Asp2243Tyr) rs138787974 0.00778
NM_000414.4(HSD17B4):c.*6A>G rs111671384 0.00777
NM_001384474.1(LOXHD1):c.2027A>G (p.Asp676Gly) rs16978578 0.00777
NM_001351132.2(PEX5):c.998G>A (p.Arg333His) rs59209175 0.00776
NM_000083.3(CLCN1):c.26G>A (p.Arg9His) rs115379077 0.00775
NM_000382.3(ALDH3A2):c.*36G>A rs138462610 0.00775
NM_001130987.2(DYSF):c.4430A>G (p.Asp1477Gly) rs61738567 0.00775
NM_001195263.2(PDZD7):c.1011C>T (p.Tyr337=) rs34705415 0.00775
NM_002292.4(LAMB2):c.1193C>T (p.Thr398Ile) rs77500937 0.00775
NM_004560.4(ROR2):c.*245A>G rs77664658 0.00775
NM_001017420.3(ESCO2):c.*491A>G rs149395052 0.00774
NM_001171.6(ABCC6):c.2707G>C (p.Glu903Gln) rs60712230 0.00774
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His) rs55886356 0.00774
NM_001267550.2(TTN):c.49443A>C (p.Pro16481=) rs74321406 0.00774
NM_018136.5(ASPM):c.10162-7T>A rs141402675 0.00774
NM_001122769.3(LCA5):c.586C>T (p.Leu196=) rs114426854 0.00773
NM_006005.3(WFS1):c.1308C>T (p.Thr436=) rs71539646 0.00773
NM_138691.3(TMC1):c.-275G>A rs58824091 0.00773
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala) rs7766366 0.00773
NM_182961.4(SYNE1):c.12079-12G>T rs73783853 0.00771
NM_001042472.3(ABHD12):c.202G>A (p.Val68Met) rs11904930 0.00770
NM_012233.3(RAB3GAP1):c.669G>T (p.Leu223Phe) rs76927619 0.00770
NM_138694.4(PKHD1):c.7110-7T>A rs113034899 0.00770
NM_148919.4(PSMB8):c.220A>T (p.Thr74Ser) rs17220206 0.00770
NM_148919.4(PSMB8):c.222C>A (p.Thr74=) rs116638337 0.00770
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911 0.00770
NM_000334.4(SCN4A):c.3720+9G>T rs9303466 0.00769
NM_001367624.2(ZNF469):c.10361G>A (p.Arg3454Gln) rs75288466 0.00769
NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=) rs140791735 0.00769
NM_198428.3(BBS9):c.*371G>A rs79271934 0.00768
NM_002485.5(NBN):c.37+5G>A rs116735828 0.00767
NM_012463.4(ATP6V0A2):c.*1645G>A rs74994957 0.00766
NM_021942.6(TRAPPC11):c.270G>C (p.Leu90=) rs60142264 0.00766
NM_001367624.2(ZNF469):c.4363C>G (p.Leu1455Val) rs116532825 0.00765
NM_021942.6(TRAPPC11):c.2483T>C (p.Val828Ala) rs75176151 0.00765
NM_198428.3(BBS9):c.2220G>A (p.Leu740=) rs115809567 0.00765
NM_001044385.3(TMEM237):c.75-13T>C rs116829037 0.00764
NM_001042545.2(LTBP4):c.2053G>A (p.Asp685Asn) rs34093919 0.00763
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile) rs61750974 0.00763
NM_016239.4(MYO15A):c.2028C>A (p.Pro676=) rs577023485 0.00762
NM_206933.4(USH2A):c.8558+40C>A rs55713064 0.00762
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874 0.00761
NM_182961.4(SYNE1):c.156T>C (p.Asp52=) rs139156106 0.00761
NM_000302.4(PLOD1):c.302+15G>A rs140227667 0.00760
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662 0.00760
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly) rs113941736 0.00760
NM_000334.4(SCN4A):c.*1088A>G rs77725962 0.00759
NM_032237.5(POMK):c.624G>C (p.Leu208=) rs34040483 0.00759
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His) rs59887778 0.00758
NM_006996.3(SLC19A2):c.796G>A (p.Val266Met) rs75099879 0.00758
NM_001267550.2(TTN):c.42219C>T (p.Phe14073=) rs150612172 0.00757
NM_015311.3(OBSL1):c.5202C>A (p.Asp1734Glu) rs181520135 0.00757
NM_001081.4(CUBN):c.2594G>A (p.Ser865Asn) rs138083522 0.00756
NM_006019.4(TCIRG1):c.2476G>A (p.Ala826Thr) rs75596506 0.00755
NM_006846.4(SPINK5):c.2895G>A (p.Lys965=) rs34966234 0.00755
NM_025216.3(WNT10A):c.493G>A (p.Gly165Arg) rs77583146 0.00755
NM_002230.4(JUP):c.1563A>G (p.Ala521=) rs149926974 0.00753
NM_001367624.2(ZNF469):c.5087C>T (p.Pro1696Leu) rs115487796 0.00752
NM_017755.6(NSUN2):c.123C>T (p.Ile41=) rs112327056 0.00752
NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu) rs187587197 0.00751
NM_002335.4(LRP5):c.687-17C>T rs186410639 0.00751
NM_012463.4(ATP6V0A2):c.*1064G>A rs7980215 0.00751
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442 0.00751
NM_207361.6(FREM2):c.6989T>C (p.Val2330Ala) rs61744595 0.00751
NM_020751.3(COG6):c.1963C>A (p.Leu655Ile) rs114044193 0.00750
NM_012463.4(ATP6V0A2):c.*1837T>C rs115183932 0.00749
NM_012463.4(ATP6V0A2):c.*3357G>C rs7297473 0.00748
NM_198999.3(SLC26A5):c.-53-2A>G rs116900495 0.00748
NM_000329.3(RPE65):c.95-18G>A rs75886344 0.00747
NM_016038.4(SBDS):c.141C>T (p.Leu47=) rs113993989 0.00747
NM_207361.6(FREM2):c.1188G>C (p.Gln396His) rs61997174 0.00747
NM_000260.4(MYO7A):c.3246G>A (p.Thr1082=) rs35963362 0.00745
NM_001130987.2(DYSF):c.1380+6G>C rs75796187 0.00745
NM_001267550.2(TTN):c.37722T>C (p.Val12574=) rs377422414 0.00745
NM_001171.6(ABCC6):c.955A>G (p.Ile319Val) rs72657699 0.00744
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr) rs34391943 0.00744
NM_001393500.2(TOMT):c.524G>A (p.Arg175Gln) rs61741195 0.00743
NM_006432.5(NPC2):c.442-4A>C rs114950106 0.00742
NM_012463.4(ATP6V0A2):c.*2710G>A rs145999411 0.00742
NM_014918.5(CHSY1):c.1566G>A (p.Ser522=) rs74784454 0.00742
NM_015311.3(OBSL1):c.3649G>A (p.Glu1217Lys) rs72957510 0.00742
NM_002292.4(LAMB2):c.2673C>T (p.Gly891=) rs144092322 0.00741
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=) rs111033477 0.00740
NM_015311.3(OBSL1):c.3950T>A (p.Leu1317Gln) rs115283876 0.00740
NM_022124.6(CDH23):c.8907C>T (p.Arg2969=) rs11000010 0.00740
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=) rs79644671 0.00740
NM_206933.4(USH2A):c.11048-15C>T rs74141403 0.00740
NM_000334.4(SCN4A):c.3441+7G>A rs142270113 0.00738
NM_004999.4(MYO6):c.1120T>C (p.Tyr374His) rs61732664 0.00738
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601 0.00738
NM_152617.4(RNF168):c.1481C>T (p.Pro494Leu) rs35132476 0.00738
NM_003619.4(PRSS12):c.*912G>A rs10212745 0.00737
NM_015311.3(OBSL1):c.4361G>A (p.Arg1454Gln) rs183329050 0.00737
NM_002473.6(MYH9):c.1729-6C>T rs9622375 0.00736
NM_007259.5(VPS45):c.290-14C>T rs148026724 0.00735
NM_001042472.3(ABHD12):c.*541G>A rs41304802 0.00734
NM_001101426.4(CRPPA):c.32C>G (p.Pro11Arg) rs192925278 0.00734
NM_004525.3(LRP2):c.10403C>T (p.Pro3468Leu) rs143367996 0.00734
NM_000243.3(MEFV):c.1503C>T (p.Arg501=) rs76464258 0.00733
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583 0.00733
NM_001171.6(ABCC6):c.1815C>T (p.Leu605=) rs61318127 0.00732
NM_001378615.1(CC2D2A):c.721G>A (p.Glu241Lys) rs62000428 0.00732
NM_033064.5(ATCAY):c.*2394C>T rs10406812 0.00732
NM_000211.5(ITGB2):c.906A>G (p.Pro302=) rs35370671 0.00731
NM_001367624.2(ZNF469):c.8868C>T (p.Pro2956=) rs137930753 0.00731
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927 0.00729
NM_001983.4(ERCC1):c.843+32G>A rs116640350 0.00729
NM_016122.3(CEP83):c.408T>C (p.Asn136=) rs148769208 0.00729
NM_000286.3(PEX12):c.*781T>A rs185900922 0.00728
NM_000329.3(RPE65):c.399T>C (p.Leu133=) rs59257923 0.00728
NM_022168.4(IFIH1):c.1641+1G>C rs35337543 0.00728
NM_001081.4(CUBN):c.6924A>T (p.Ser2308=) rs115303408 0.00727
NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln) rs7969410 0.00727
NM_014780.5(CUL7):c.4762C>A (p.Leu1588Ile) rs147493246 0.00727
NM_213599.3(ANO5):c.800C>G (p.Thr267Ser) rs138144479 0.00727
NM_013335.4(GMPPA):c.441G>A (p.Thr147=) rs150386940 0.00726
NM_001048166.1(STIL):c.3430G>A (p.Asp1144Asn) rs112563569 0.00725
NM_003193.5(TBCE):c.1050A>G (p.Glu350=) rs35663526 0.00725
NM_004525.3(LRP2):c.13545G>A (p.Gly4515=) rs34029982 0.00725
NM_148919.4(PSMB8):c.*24G>T rs115441230 0.00724
NM_178170.3(NEK8):c.1641C>T (p.Ala547=) rs8073738 0.00724
NM_203486.3(DLL3):c.674G>A (p.Ser225Asn) rs35380611 0.00724
NM_206933.4(USH2A):c.9959-11T>G rs116150014 0.00724
NM_004100.5(EYA4):c.*1484C>T rs116238383 0.00723
NM_025074.7(FRAS1):c.*709G>A rs115458096 0.00723
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg) rs139014478 0.00721
NM_000426.4(LAMA2):c.1403C>G (p.Ala468Gly) rs111695726 0.00720
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) rs1801505 0.00719
NM_000260.4(MYO7A):c.133-14C>T rs116228809 0.00719
NM_001267550.2(TTN):c.60232G>A (p.Val20078Met) rs77351975 0.00719
NM_022124.6(CDH23):c.*173C>T rs143222936 0.00719
NM_001267550.2(TTN):c.63026G>A (p.Arg21009Gln) rs72646851 0.00718
NM_003839.4(TNFRSF11A):c.*1738C>T rs6567277 0.00718
NM_000760.4(CSF3R):c.1684T>C (p.Tyr562His) rs3917996 0.00717
NM_001384474.1(LOXHD1):c.1028G>A (p.Arg343His) rs183531840 0.00717
NM_000334.4(SCN4A):c.5499G>A (p.Glu1833=) rs116469710 0.00716
NM_000370.3(TTPA):c.*782C>T rs114278576 0.00716
NM_021628.3(ALOXE3):c.148-11G>C rs114372253 0.00716
NM_000337.6(SGCD):c.*822C>T rs78615220 0.00715
NM_018965.4(TREM2):c.185G>A (p.Arg62His) rs143332484 0.00714
NM_201384.3(PLEC):c.4635G>A (p.Ala1545=) rs76426116 0.00714
NM_032119.4(ADGRV1):c.13037C>T (p.Pro4346Leu) rs74632023 0.00712
NM_000271.5(NPC1):c.2661G>A (p.Pro887=) rs9949660 0.00711
NM_002485.5(NBN):c.1489A>G (p.Thr497Ala) rs3026268 0.00711
NM_138387.4(G6PC3):c.*2T>C rs113416399 0.00711
NM_001145809.2(MYH14):c.5868C>T (p.Ala1956=) rs190695624 0.00710
NM_004525.3(LRP2):c.12811+12G>A rs112157558 0.00710
NM_025074.7(FRAS1):c.*2370G>A rs116617672 0.00710
NM_198428.3(BBS9):c.1694-6T>C rs28622379 0.00710
NM_001814.6(CTSC):c.*253T>C rs116618365 0.00709
NM_003701.4(TNFSF11):c.239C>T (p.Ser80Leu) rs138974661 0.00709
NM_001267550.2(TTN):c.50551+20C>T rs67636125 0.00708
NM_020964.3(EPG5):c.6522G>A (p.Pro2174=) rs148683476 0.00708
NM_201384.3(PLEC):c.9435C>T (p.Asp3145=) rs60091617 0.00708
NM_001283009.2(RTEL1):c.103-6G>A rs57695352 0.00707
NM_002180.3(IGHMBP2):c.2782G>A (p.Glu928Lys) rs2275996 0.00707
NM_005982.4(SIX1):c.*297T>G rs147081368 0.00707
NM_006946.4(SPTBN2):c.4985+11C>T rs11227572 0.00707
NM_014780.5(CUL7):c.1780G>A (p.Ala594Thr) rs141065679 0.00707
NM_020964.3(EPG5):c.1399C>T (p.Leu467=) rs145998030 0.00707
NM_022098.4(XPNPEP3):c.*877A>G rs5995966 0.00707
NM_000360.4(TH):c.684G>A (p.Glu228=) rs11564716 0.00706
NM_001367624.2(ZNF469):c.7805T>C (p.Leu2602Pro) rs150488251 0.00706
NM_001374623.1(PNPLA1):c.985T>C (p.Ser329Pro) rs78257597 0.00706
NM_005236.3(ERCC4):c.2463A>G (p.Pro821=) rs2020953 0.00706
NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro) rs61326562 0.00706
NM_014363.6(SACS):c.6069C>T (p.Asn2023=) rs35369023 0.00706
NM_022464.5(SIL1):c.239A>G (p.Gln80Arg) rs35581768 0.00706
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val) rs61548169 0.00705
NM_014363.6(SACS):c.5502G>C (p.Leu1834=) rs34389000 0.00705
NM_024570.4(RNASEH2B):c.822+6T>C rs76413207 0.00705
NM_025114.4(CEP290):c.1624-5T>C rs142742071 0.00704
NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys) rs114363936 0.00703
NM_001267550.2(TTN):c.57462G>A (p.Gln19154=) rs72646832 0.00703
NM_014956.5(CEP164):c.1480C>A (p.Pro494Thr) rs114396665 0.00703
NM_001127671.2(LIFR):c.1899A>G (p.Ile633Met) rs2303743 0.00702
NM_001267550.2(TTN):c.24579A>G (p.Thr8193=) rs72648979 0.00702
NM_001267550.2(TTN):c.57464G>A (p.Arg19155Lys) rs72646833 0.00702
NM_004153.4(ORC1):c.1397C>T (p.Thr466Met) rs3087481 0.00702
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val) rs113562492 0.00702
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu) rs17452588 0.00701
NM_001267550.2(TTN):c.24160A>T (p.Ile8054Leu) rs72648976 0.00701
NM_001267550.2(TTN):c.24345C>T (p.Ser8115=) rs72648977 0.00701
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn) rs34884895 0.00701
NM_004560.4(ROR2):c.*736A>G rs73654047 0.00701
NM_002454.3(MTRR):c.1653G>A (p.Pro551=) rs139206262 0.00700
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387 0.00699
NM_018972.4(GDAP1):c.*561C>G rs80136809 0.00699
NM_213599.3(ANO5):c.1545A>G (p.Ser515=) rs35843353 0.00699
NM_000070.3(CAPN3):c.939G>A (p.Pro313=) rs78369269 0.00698
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn) rs17354992 0.00698
NM_020458.4(TTC7A):c.649-10C>T rs149360779 0.00698
NM_022124.6(CDH23):c.3249G>A (p.Thr1083=) rs79805606 0.00698
NM_001267550.2(TTN):c.39183T>A (p.Pro13061=) rs12474306 0.00697
NM_001267550.2(TTN):c.56529G>A (p.Thr18843=) rs72646827 0.00697
NM_000334.4(SCN4A):c.*1215G>A rs112758825 0.00696
NM_206933.4(USH2A):c.10552G>A (p.Val3518Ile) rs75397806 0.00696
NM_001267550.2(TTN):c.32722+9G>A rs148231130 0.00695
NM_173551.5(ANKS6):c.862+20G>A rs115965425 0.00695
NM_000123.4(ERCC5):c.2457G>A (p.Arg819=) rs73573973 0.00694
NM_001329943.3(KIAA0586):c.1097A>T (p.Glu366Val) rs59248588 0.00694
NM_020632.3(ATP6V0A4):c.1557G>A (p.Pro519=) rs74921348 0.00694
NM_000123.4(ERCC5):c.433G>A (p.Val145Ile) rs4987063 0.00693
NM_001386140.1(MTTP):c.*267A>C rs79992570 0.00692
NM_001267550.2(TTN):c.43596T>C (p.Asn14532=) rs16866423 0.00691
NM_138691.3(TMC1):c.421C>T (p.Arg141Trp) rs11143384 0.00691
NM_001081.4(CUBN):c.*872T>C rs116825641 0.00690
NM_002618.4(PEX13):c.674A>G (p.Asp225Gly) rs116059308 0.00690
NM_052985.3(IFT122):c.-210C>A rs148987764 0.00690
NM_001329943.3(KIAA0586):c.257T>C (p.Met86Thr) rs74055693 0.00689
NM_004086.3(COCH):c.1269C>T (p.Asp423=) rs35353967 0.00689
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594 0.00688
NM_014363.6(SACS):c.4188C>T (p.His1396=) rs61754477 0.00688
NM_014363.6(SACS):c.6267G>A (p.Ser2089=) rs9550956 0.00688
NM_014780.5(CUL7):c.4463T>C (p.Leu1488Pro) rs41274912 0.00688
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val) rs115960224 0.00687
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839 0.00687
NM_000287.4(PEX6):c.2936C>T (p.Ala979Val) rs115180949 0.00686
NM_002617.4(PEX10):c.685G>C (p.Val229Leu) rs139345520 0.00686
NM_178170.3(NEK8):c.*430C>A rs4795455 0.00686
NM_005708.5(GPC6):c.256C>T (p.Leu86Phe) rs143872144 0.00684
NM_006892.4(DNMT3B):c.*895T>C rs116329759 0.00684
NM_016373.4(WWOX):c.754C>G (p.Pro252Ala) rs75559202 0.00684
NM_207361.6(FREM2):c.*4249A>C rs116463058 0.00684
NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe) rs150895887 0.00683
NM_001267550.2(TTN):c.45083-10A>G rs72677222 0.00683
NM_005708.5(GPC6):c.991A>T (p.Met331Leu) rs78029763 0.00683
NM_033064.5(ATCAY):c.*1180C>T rs140608538 0.00683
NM_206933.4(USH2A):c.9723C>T (p.Tyr3241=) rs6660707 0.00683
NM_000320.3(QDPR):c.105+17G>A rs149373480 0.00682
NM_001267550.2(TTN):c.99111T>C (p.Tyr33037=) rs77257306 0.00682
NM_000124.4(ERCC6):c.1146G>A (p.Glu382=) rs4253045 0.00681
NM_001081.4(CUBN):c.5098G>A (p.Asp1700Asn) rs116114483 0.00681
NM_022089.4(ATP13A2):c.145G>A (p.Gly49Ser) rs56379718 0.00681
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643 0.00681
NM_000337.6(SGCD):c.507G>A (p.Ala169=) rs10071079 0.00680
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422 0.00680
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304 0.00678
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808 0.00678
NM_005529.7(HSPG2):c.9719C>T (p.Ala3240Val) rs62642505 0.00677
NM_015102.5(NPHP4):c.1542G>A (p.Pro514=) rs35264155 0.00677
NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln) rs41281338 0.00677
NM_153717.3(EVC):c.780G>A (p.Lys260=) rs41269555 0.00676
NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile) rs151091241 0.00676
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) rs72648937 0.00675
NM_016373.4(WWOX):c.613C>A (p.His205Asn) rs74860463 0.00674
NM_201384.3(PLEC):c.11940C>T (p.Ile3980=) rs148865812 0.00674
NM_000124.4(ERCC6):c.*1872C>T rs115281814 0.00673
NM_000784.4(CYP27A1):c.-6C>T rs199891090 0.00673
NM_005422.4(TECTA):c.5012C>T (p.Ser1671Leu) rs142948530 0.00672
NM_012463.4(ATP6V0A2):c.1872G>A (p.Leu624=) rs73420342 0.00672
NM_147127.5(EVC2):c.1198A>G (p.Thr400Ala) rs138972736 0.00672
NM_001267550.2(TTN):c.81057T>C (p.Thr27019=) rs114908705 0.00671
NM_139319.3(SLC17A8):c.355-4C>A rs11568531 0.00670
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=) rs7811324 0.00669
NM_005529.7(HSPG2):c.7296A>T (p.Ala2432=) rs2229485 0.00669
NM_022095.4(ZNF335):c.3180C>T (p.Pro1060=) rs61729182 0.00669
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met) rs2230896 0.00668
NM_000543.5(SMPD1):c.719G>A (p.Arg240Gln) rs2634197 0.00668
NM_004525.3(LRP2):c.2024T>C (p.Val675Ala) rs116332504 0.00668
NM_201384.3(PLEC):c.7260G>A (p.Thr2420=) rs34490562 0.00668
NM_001267550.2(TTN):c.42156C>T (p.Ile14052=) rs76815324 0.00667
NM_001267550.2(TTN):c.95259C>T (p.Leu31753=) rs72648258 0.00667
NM_001329943.3(KIAA0586):c.1439C>T (p.Thr480Ile) rs61745119 0.00667
NM_001127453.2(GSDME):c.577-15C>T rs11970787 0.00666
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val) rs72648960 0.00666
NM_000208.4(INSR):c.*2502A>G rs149795309 0.00665
NM_017721.5(CC2D1A):c.980C>T (p.Ser327Leu) rs200121704 0.00665
NM_018136.5(ASPM):c.3742-10T>G rs41299587 0.00665
NM_000208.4(INSR):c.*1089A>G rs116422284 0.00664
NM_000208.4(INSR):c.2683-5C>T rs41306363 0.00664
NM_004937.3(CTNS):c.108C>T (p.Asn36=) rs117404824 0.00664
NM_005529.7(HSPG2):c.9732C>T (p.His3244=) rs74782938 0.00664
NM_022124.6(CDH23):c.2337G>A (p.Lys779=) rs111033461 0.00664
NM_182961.4(SYNE1):c.13986G>A (p.Lys4662=) rs17082484 0.00664
NM_002292.4(LAMB2):c.3443G>A (p.Arg1148His) rs138774635 0.00663
NM_002292.4(LAMB2):c.4222C>T (p.Leu1408=) rs143974640 0.00662
NM_176824.3(BBS7):c.186C>T (p.Pro62=) rs35194418 0.00662
NM_203486.3(DLL3):c.1562C>T (p.Ser521Phe) rs191149379 0.00662
NM_022095.4(ZNF335):c.3489T>C (p.Thr1163=) rs116077790 0.00661
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=) rs1800135 0.00660
NM_006846.4(SPINK5):c.-19G>A rs12522603 0.00660
NM_020247.5(COQ8A):c.*727C>T rs16846762 0.00659
NM_013382.7(POMT2):c.2175C>T (p.Tyr725=) rs116434191 0.00658
NM_020247.5(COQ8A):c.655+9G>A rs146526153 0.00658
NM_021628.3(ALOXE3):c.*24A>G rs111342695 0.00658
NM_025074.7(FRAS1):c.4143T>C (p.Leu1381=) rs113301188 0.00658
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802 0.00658
NM_182961.4(SYNE1):c.16129A>C (p.Met5377Leu) rs35987150 0.00658
NM_198428.3(BBS9):c.2116-20G>A rs149813362 0.00658
NM_001384474.1(LOXHD1):c.3999C>T (p.Cys1333=) rs117297079 0.00657
NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys) rs2229474 0.00657
NM_001378615.1(CC2D2A):c.3509G>A (p.Arg1170Lys) rs61734948 0.00656
NM_001384474.1(LOXHD1):c.274G>A (p.Val92Ile) rs115275492 0.00656
NM_001384474.1(LOXHD1):c.4714C>A (p.Arg1572=) rs75949023 0.00656
NM_018136.5(ASPM):c.3741+3A>G rs138558822 0.00656
NM_000506.5(F2):c.813C>T (p.Gly271=) rs5899 0.00654
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=) rs34562585 0.00654
NM_015046.7(SETX):c.1968A>G (p.Val656=) rs113997459 0.00654
NM_153240.5(NPHP3):c.1887+6G>A rs79113972 0.00654
NM_182961.4(SYNE1):c.9972+19A>G rs77322999 0.00654
NM_006846.4(SPINK5):c.1322G>A (p.Arg441His) rs34393923 0.00653
NM_015046.7(SETX):c.1957C>A (p.Gln653Lys) rs116333061 0.00653
NM_012463.4(ATP6V0A2):c.117+14G>A rs144930749 0.00652
NM_024989.4(PGAP1):c.1952+10A>C rs7609297 0.00652
NM_001194998.2(CEP152):c.4857T>C (p.Asp1619=) rs74986073 0.00651
NM_201384.3(PLEC):c.9966C>T (p.Val3322=) rs35613096 0.00651
NM_147127.5(EVC2):c.2707-5T>C rs186058156 0.00650
NM_182961.4(SYNE1):c.9764C>T (p.Ser3255Leu) rs114954026 0.00650
NM_001283009.2(RTEL1):c.2852-16G>A rs143229960 0.00649
NM_002617.4(PEX10):c.318G>A (p.Leu106=) rs146452560 0.00649
NM_182961.4(SYNE1):c.14107G>A (p.Asp4703Asn) rs116000545 0.00649
NM_001081.4(CUBN):c.*737T>C rs114039309 0.00648
NM_001384474.1(LOXHD1):c.1431+10G>T rs57330753 0.00648
NM_003383.5(VLDLR):c.449-12C>T rs73640152 0.00648
NM_025074.7(FRAS1):c.10598G>A (p.Arg3533Gln) rs115878217 0.00648
NM_182961.4(SYNE1):c.25120-16G>T rs139671151 0.00648
NM_201384.3(PLEC):c.4223C>T (p.Ala1408Val) rs111851716 0.00648
NM_000286.3(PEX12):c.867C>T (p.Asp289=) rs138720627 0.00647
NM_145861.4(EDARADD):c.*1887G>A rs114783553 0.00647
NM_000260.4(MYO7A):c.2236G>A (p.Asp746Asn) rs36090425 0.00646
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr) rs151181674 0.00646
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile) rs147487242 0.00646
NM_012233.3(RAB3GAP1):c.*992G>A rs11558414 0.00645
NM_001351132.2(PEX5):c.1632G>A (p.Ala544=) rs115338343 0.00644
NM_001267550.2(TTN):c.53288-18G>T rs72646810 0.00643
NM_002160.4(TNC):c.637G>A (p.Gly213Ser) rs7020958 0.00643
NM_005219.5(DIAPH1):c.*1597G>A rs76801798 0.00643
NM_020632.3(ATP6V0A4):c.816+19C>T rs80076422 0.00643
NM_000208.4(INSR):c.*3786G>C rs115012090 0.00642
NM_001127671.2(LIFR):c.1991C>T (p.Ser664Leu) rs3729744 0.00642
NM_001081.4(CUBN):c.9491C>G (p.Ser3164Trp) rs57163243 0.00641
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys) rs28626194 0.00641
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser) rs72677242 0.00641
NM_206933.4(USH2A):c.848+5G>C rs74329863 0.00641
NM_000337.6(SGCD):c.294+8T>C rs11748588 0.00640
NM_001145026.2(PTPRQ):c.1233G>A (p.Thr411=) rs185755490 0.00640
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476 0.00640
NM_004393.6(DAG1):c.259A>G (p.Ile87Val) rs116717961 0.00640
NM_018319.4(TDP1):c.911G>A (p.Arg304Gln) rs34452707 0.00640
NM_000082.4(ERCC8):c.504A>G (p.Val168=) rs35366433 0.00639
NM_016219.5(MAN1B1):c.1485A>G (p.Arg495=) rs113472164 0.00639
NM_018319.4(TDP1):c.1098A>G (p.Gln366=) rs34563565 0.00639
NM_032119.4(ADGRV1):c.14654A>G (p.Asn4885Ser) rs61731030 0.00638
NM_001267550.2(TTN):c.19383T>C (p.Asn6461=) rs76771282 0.00636
NM_000211.5(ITGB2):c.741+19C>T rs73374602 0.00635
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly) rs146983095 0.00634
NM_015311.3(OBSL1):c.3003C>T (p.Ala1001=) rs150691758 0.00634
NM_015046.7(SETX):c.7905C>T (p.Ala2635=) rs112201716 0.00633
NM_182961.4(SYNE1):c.3890C>T (p.Ala1297Val) rs35378260 0.00633
NM_030943.4(AMN):c.363G>A (p.Gly121=) rs141455061 0.00632
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571 0.00632
NM_153240.5(NPHP3):c.*759G>A rs116338839 0.00632
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362 0.00631
NM_001098484.3(SLC4A4):c.*2864G>A rs72854486 0.00630
NM_003332.4(TYROBP):c.94+10G>C rs55746266 0.00630
NM_014028.4(OSTM1):c.*355A>G rs61491262 0.00630
NM_000543.5(SMPD1):c.1625G>A (p.Arg542Gln) rs113467489 0.00629
NM_025074.7(FRAS1):c.688-13T>C rs144657066 0.00629
NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=) rs11915053 0.00629
NM_005529.7(HSPG2):c.2357A>G (p.Asn786Ser) rs143736974 0.00628
NM_000302.4(PLOD1):c.975+13C>T rs79345327 0.00627
NM_000553.6(WRN):c.1953C>T (p.Gly651=) rs11574263 0.00627
NM_001098484.3(SLC4A4):c.*1220G>A rs72854471 0.00627
NM_005529.7(HSPG2):c.3056C>T (p.Pro1019Leu) rs62642528 0.00626
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val) rs72648244 0.00625
NM_001379286.1(ZNF423):c.3164C>T (p.Ala1055Val) rs111229124 0.00625
NM_001382391.1(CSPP1):c.3220+13A>G rs139491415 0.00625
NM_005236.3(ERCC4):c.2617A>G (p.Ile873Val) rs2020957 0.00625
NM_152384.3(BBS5):c.620G>A (p.Arg207His) rs35487251 0.00625
NM_153240.5(NPHP3):c.*815G>A rs141464909 0.00625
NM_001098484.3(SLC4A4):c.*2353C>G rs72854484 0.00624
NM_014797.3(ZBTB24):c.146G>A (p.Arg49Gln) rs147441359 0.00624
NM_001098484.3(SLC4A4):c.*2329A>C rs72854481 0.00622
NM_002292.4(LAMB2):c.3110-15T>C rs147446447 0.00622
NM_012463.4(ATP6V0A2):c.*3000G>A rs183891010 0.00622
NM_000254.3(MTR):c.3599-11G>A rs76731959 0.00621
NM_001098484.3(SLC4A4):c.*1986G>A rs72854477 0.00620
NM_002230.4(JUP):c.1224C>T (p.Leu408=) rs2230408 0.00620
NM_004100.5(EYA4):c.111T>C (p.Ser37=) rs35863035 0.00620
NM_005522.5(HOXA1):c.*1090C>T rs7786554 0.00620
NM_018319.4(TDP1):c.302C>T (p.Pro101Leu) rs35455108 0.00620
NM_000023.4(SGCA):c.*10C>G rs60300808 0.00619
NM_000287.4(PEX6):c.2770G>T (p.Ala924Ser) rs34551839 0.00619
NM_001386140.1(MTTP):c.*588A>G rs184236038 0.00619
NM_017755.6(NSUN2):c.-27C>A rs190264173 0.00619
NM_000243.3(MEFV):c.*9C>T rs11466048 0.00618
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) rs56174006 0.00618
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) rs28763961 0.00618
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser) rs34737974 0.00618
NM_000260.4(MYO7A):c.3042G>T (p.Thr1014=) rs111033507 0.00617
NM_001081.4(CUBN):c.963C>T (p.Pro321=) rs150309054 0.00617
NM_024753.5(TTC21B):c.1870A>G (p.Ile624Val) rs77106136 0.00617
NM_201384.3(PLEC):c.13110C>T (p.Ala4370=) rs187810163 0.00617
NM_001077365.2(POMT1):c.891G>A (p.Leu297=) rs76109289 0.00616
NM_021252.4(RAB18):c.-83C>A rs115326586 0.00616
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=) rs56181243 0.00615
NM_002160.4(TNC):c.6482A>G (p.Asn2161Ser) rs75198247 0.00615
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg) rs9397509 0.00615
NM_000070.3(CAPN3):c.495C>T (p.Phe165=) rs1801324 0.00613
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463 0.00613
NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe) rs34618570 0.00613
NM_013382.7(POMT2):c.1183+14A>G rs80099135 0.00613
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser) rs56204273 0.00613
NM_020779.4(WDR35):c.*1406A>G rs10197681 0.00613
NM_033629.6(TREX1):c.462T>C (p.Asp154=) rs3135944 0.00613
NM_020632.3(ATP6V0A4):c.1033C>A (p.Leu345Ile) rs61747674 0.00612
NM_004525.3(LRP2):c.923-6G>A rs144147038 0.00611
NM_015702.3(MMADHC):c.473G>A (p.Arg158Gln) rs114276563 0.00611
NM_005529.7(HSPG2):c.10045C>G (p.Leu3349Val) rs75843082 0.00610
NM_022124.6(CDH23):c.6990G>T (p.Leu2330=) rs111033495 0.00610
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728 0.00609
NM_024649.5(BBS1):c.*187C>T rs148117167 0.00609
NM_001267550.2(TTN):c.83063G>A (p.Arg27688His) rs185002960 0.00608
NM_032575.3(GLIS2):c.1476G>A (p.Thr492=) rs140403969 0.00608
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys) rs56056328 0.00606
NM_001367624.2(ZNF469):c.4421C>T (p.Ala1474Val) rs199897247 0.00605
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val) rs11545035 0.00605
NM_201384.3(PLEC):c.2961C>T (p.Ser987=) rs149932255 0.00603
NM_004086.3(COCH):c.1553A>G (p.Glu518Gly) rs17097468 0.00602
NM_004560.4(ROR2):c.*886G>T rs114078962 0.00602
NM_012233.3(RAB3GAP1):c.913A>G (p.Ile305Val) rs116775947 0.00602
NM_015046.7(SETX):c.59G>A (p.Arg20His) rs79740039 0.00602
NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn) rs35493783 0.00602
NM_006019.4(TCIRG1):c.479G>A (p.Gly160Glu) rs186758849 0.00601
NM_022464.5(SIL1):c.454-6C>T rs58624842 0.00601
NM_000070.3(CAPN3):c.984C>T (p.Cys328=) rs28364441 0.00600
NM_001267550.2(TTN):c.45350-13T>C rs113084617 0.00600
NM_002180.3(IGHMBP2):c.256+9G>A rs118015540 0.00600
NM_015311.3(OBSL1):c.4363T>C (p.Leu1455=) rs78420199 0.00600
NM_005708.5(GPC6):c.*1675C>T rs114974584 0.00599
NM_015102.5(NPHP4):c.1442-7C>T rs146078470 0.00599
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) rs138072724 0.00599
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr) rs114026724 0.00598
NM_001267550.2(TTN):c.36126A>C (p.Glu12042Asp) rs113231696 0.00597
NM_004100.5(EYA4):c.103C>T (p.Leu35=) rs35562371 0.00597
NM_004560.4(ROR2):c.717C>T (p.Cys239=) rs56302651 0.00597
NM_014053.4(FLVCR1):c.*500G>A rs41301023 0.00597
NM_207361.6(FREM2):c.2978A>G (p.Glu993Gly) rs61742843 0.00597
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=) rs74318065 0.00596
NM_182961.4(SYNE1):c.19698G>T (p.Met6566Ile) rs35654757 0.00596
NM_001267550.2(TTN):c.17312C>G (p.Thr5771Ser) rs16866477 0.00593
NM_001098484.3(SLC4A4):c.*1665C>T rs72854473 0.00592
NM_001254.4(CDC6):c.896C>T (p.Thr299Met) rs4135013 0.00591
NM_002180.3(IGHMBP2):c.*744G>A rs116625875 0.00591
NM_182961.4(SYNE1):c.4757C>A (p.Thr1586Lys) rs77675624 0.00591
NM_001267550.2(TTN):c.88858C>T (p.Leu29620=) rs115070904 0.00590
NM_000492.4(CFTR):c.164+28A>G rs34010645 0.00589
NM_001130987.2(DYSF):c.2642A>C (p.Asp881Ala) rs35884879 0.00589
NM_176824.3(BBS7):c.1505A>G (p.His502Arg) rs114718913 0.00589
NM_000760.4(CSF3R):c.2422G>A (p.Glu808Lys) rs146617729 0.00588
NM_002109.6(HARS1):c.14C>A (p.Ala5Glu) rs78741041 0.00588
NM_001161403.3(LIMS2):c.385C>T (p.Arg129Cys) rs145123078 0.00587
NM_001367624.2(ZNF469):c.1994C>T (p.Pro665Leu) rs184583062 0.00587
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784 0.00587
NM_001267550.2(TTN):c.2270C>T (p.Pro757Leu) rs116307796 0.00586
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala) rs56385601 0.00586
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936 0.00585
NM_001267550.2(TTN):c.17989G>A (p.Ala5997Thr) rs72648946 0.00585
NM_001379286.1(ZNF423):c.3061C>T (p.Leu1021=) rs35529066 0.00585
NM_022089.4(ATP13A2):c.1195+10G>A rs55689004 0.00585
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu) rs147371999 0.00585
NM_000287.4(PEX6):c.813G>T (p.Ala271=) rs35503676 0.00583
NM_000466.3(PEX1):c.3720C>T (p.His1240=) rs34825053 0.00582
NM_001083961.2(WDR62):c.1959-20A>G rs150830386 0.00582
NM_001145026.2(PTPRQ):c.5061T>C (p.Pro1687=) rs186848048 0.00581
NM_001283009.2(RTEL1):c.3692C>T (p.Thr1231Met) rs144477693 0.00581
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys) rs142558269 0.00581
NM_000208.4(INSR):c.618C>T (p.Val206=) rs56012021 0.00580
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu) rs150724610 0.00580
NM_002180.3(IGHMBP2):c.2025C>T (p.Thr675=) rs138396245 0.00580
NM_001283009.2(RTEL1):c.2898G>C (p.Glu966Asp) rs115464632 0.00579
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro) rs28730852 0.00579
NM_182961.4(SYNE1):c.4789-13G>A rs142900784 0.00579
NM_000070.3(CAPN3):c.2381-12A>G rs73402734 0.00578
NM_031471.6(FERMT3):c.130G>A (p.Gly44Arg) rs149000560 0.00578
NM_004937.3(CTNS):c.*1206T>C rs115239409 0.00577
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_033064.5(ATCAY):c.*7G>A rs60814801 0.00577
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_000254.3(MTR):c.858C>T (p.Pro286=) rs146019467 0.00576
NM_015102.5(NPHP4):c.3674C>T (p.Thr1225Met) rs144624477 0.00576
NM_024753.5(TTC21B):c.2322+3A>G rs79037278 0.00575
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_207361.6(FREM2):c.*1379T>C rs150619967 0.00573
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911 0.00572
NM_015910.7(WDPCP):c.1333G>C (p.Ala445Pro) rs61734466 0.00572
NM_138694.4(PKHD1):c.2279+13T>G rs188914598 0.00572
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=) rs72896268 0.00571
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118 0.00570
NM_001267550.2(TTN):c.11969C>T (p.Pro3990Leu) rs33971253 0.00570
NM_001384140.1(PCDH15):c.-5A>G rs142016527 0.00570
NM_002860.4(ALDH18A1):c.*140C>T rs76824727 0.00570
NM_015046.7(SETX):c.*319C>T rs1056912 0.00570
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr) rs113869406 0.00570
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe) rs141716975 0.00570
NM_005529.7(HSPG2):c.11671+15C>T rs7515291 0.00569
NM_201384.3(PLEC):c.9961G>A (p.Gly3321Arg) rs34132016 0.00569
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_001283009.2(RTEL1):c.1727G>A (p.Arg576His) rs115423936 0.00567
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn) rs34398445 0.00566
NM_020631.6(PLEKHG5):c.*27T>C rs117494970 0.00566
NM_182961.4(SYNE1):c.22281C>A (p.Ile7427=) rs139362680 0.00566
NM_001143992.2(WRAP53):c.936C>T (p.Cys312=) rs73248508 0.00565
NM_020964.3(EPG5):c.104G>A (p.Ser35Asn) rs145177562 0.00565
NM_001194998.2(CEP152):c.3278G>A (p.Cys1093Tyr) rs74012142 0.00563
NM_005422.4(TECTA):c.790+12C>T rs138644808 0.00563
NM_001081.4(CUBN):c.2445C>T (p.Val815=) rs116350428 0.00561
NM_001081.4(CUBN):c.3752G>C (p.Ser1251Thr) rs115048360 0.00561
NM_001101426.4(CRPPA):c.346C>T (p.Arg116Cys) rs61744487 0.00561
NM_022124.6(CDH23):c.2568C>G (p.Ile856Met) rs188498736 0.00561
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00561
NM_004525.3(LRP2):c.11092G>A (p.Val3698Met) rs34355135 0.00560
NM_024685.4(BBS10):c.966T>C (p.Tyr322=) rs139053702 0.00560
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=) rs78996818 0.00559
NM_000784.4(CYP27A1):c.921G>A (p.Val307=) rs147975335 0.00559
NM_001267550.2(TTN):c.24471C>T (p.Gly8157=) rs113391261 0.00559
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=) rs56345408 0.00559
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met) rs73973147 0.00558
NM_005709.4(USH1C):c.1266G>A (p.Thr422=) rs35188020 0.00558
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met) rs35256065 0.00558
NM_033056.4(PCDH15):c.4884T>C (p.Thr1628=) rs16937781 0.00558
NM_000243.3(MEFV):c.1587+33C>G rs146820856 0.00556
NM_017791.3(FLVCR2):c.*573C>T rs116699854 0.00556
NM_020458.4(TTC7A):c.870C>G (p.Val290=) rs144304124 0.00556
NM_000023.4(SGCA):c.1120C>T (p.Arg374Cys) rs35495899 0.00555
NM_000211.5(ITGB2):c.810G>A (p.Ala270=) rs61737077 0.00555
NM_002617.4(PEX10):c.332T>C (p.Leu111Pro) rs35426403 0.00554
NM_017791.3(FLVCR2):c.953-14G>A rs115200097 0.00554
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly) rs72646885 0.00553
NM_002230.4(JUP):c.1774-13C>T rs116772523 0.00553
NM_203486.3(DLL3):c.543T>C (p.Pro181=) rs115194365 0.00553
NM_000123.4(ERCC5):c.1974A>G (p.Gln658=) rs55686372 0.00552
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr) rs56128843 0.00552
NM_003896.4(ST3GAL5):c.849+19A>G rs80130823 0.00552
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476 0.00551
NM_018063.5(HELLS):c.993G>A (p.Thr331=) rs112321661 0.00550
NM_152617.4(RNF168):c.1284A>G (p.Lys428=) rs78211871 0.00550
NM_002860.4(ALDH18A1):c.*56T>A rs114393346 0.00549
NM_014425.5(INVS):c.102C>T (p.Ile34=) rs115640267 0.00549
NM_022124.6(CDH23):c.894G>A (p.Leu298=) rs111033474 0.00549
NM_001384474.1(LOXHD1):c.5868C>T (p.His1956=) rs114974101 0.00548
NM_004565.3(PEX14):c.504G>A (p.Thr168=) rs146781531 0.00548
NM_052989.3(IFT122):c.3303G>T (p.Gly1101=) rs111668739 0.00548
NM_000360.4(TH):c.579C>T (p.Gly193=) rs147852210 0.00547
NM_015046.7(SETX):c.5275-43T>C rs144258500 0.00547
NM_020632.3(ATP6V0A4):c.755C>G (p.Pro252Arg) rs61747681 0.00547
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr) rs56404770 0.00546
NM_182961.4(SYNE1):c.12000G>A (p.Ala4000=) rs148493518 0.00546
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_001267550.2(TTN):c.29178C>A (p.Ile9726=) rs72650003 0.00545
NM_176824.3(BBS7):c.1512-7A>T rs115987385 0.00545
NM_206933.4(USH2A):c.14226G>A (p.Thr4742=) rs78576418 0.00545
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031 0.00544
NM_004836.7(EIF2AK3):c.3291A>G (p.Ser1097=) rs10208681 0.00543
NM_001042545.2(LTBP4):c.1441A>G (p.Met481Val) rs116005784 0.00542
NM_006846.4(SPINK5):c.2667-4G>A rs180955184 0.00542
NM_018319.4(TDP1):c.*1105A>G rs34815305 0.00542
NM_000057.4(BLM):c.2075-12G>T rs28385027 0.00541
NM_001048174.2(MUTYH):c.421-4A>G rs201678305 0.00541
NM_017433.5(MYO3A):c.4465A>G (p.Ile1489Val) rs147376000 0.00541
NM_020964.3(EPG5):c.3493A>G (p.Ile1165Val) rs61744077 0.00541
NM_201384.3(PLEC):c.175-6C>T rs377389860 0.00541
NM_201384.3(PLEC):c.3869A>G (p.Lys1290Arg) rs200895043 0.00541
NM_001292063.2(OTOG):c.385+7C>T rs139222878 0.00540
NM_002180.3(IGHMBP2):c.1538-8C>G rs115320302 0.00540
NM_002485.5(NBN):c.37+11A>G rs115032431 0.00540
NM_000211.5(ITGB2):c.1888G>A (p.Glu630Lys) rs2230531 0.00539
NM_000557.5(GDF5):c.349G>T (p.Ala117Ser) rs151149144 0.00539
NM_001814.6(CTSC):c.319-15C>T rs45539936 0.00539
NM_022124.6(CDH23):c.8022G>A (p.Gln2674=) rs201733315 0.00539
NM_198428.3(BBS9):c.1110C>T (p.Asn370=) rs61753524 0.00539
NM_206933.4(USH2A):c.78T>C (p.Ala26=) rs59139861 0.00539
NM_001134831.2(AHI1):c.3579T>C (p.Thr1193=) rs115338154 0.00537
NM_018249.6(CDK5RAP2):c.3666A>G (p.Gln1222=) rs77925703 0.00537
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725 0.00537
NM_001042545.2(LTBP4):c.891C>T (p.Gly297=) rs374427407 0.00535
NM_001267550.2(TTN):c.42024+6T>C rs140002940 0.00535
NM_002857.3(PEX19):c.-14T>G rs2301297 0.00535
NM_003896.4(ST3GAL5):c.*482G>A rs115544178 0.00535
NM_004813.4(PEX16):c.952+18C>T rs112068553 0.00535
NM_207361.6(FREM2):c.6330T>G (p.Leu2110=) rs112083916 0.00535
NM_004937.3(CTNS):c.*1165C>T rs112915401 0.00534
NM_001267550.2(TTN):c.39709+6C>T rs72650067 0.00533
NM_001329943.3(KIAA0586):c.422T>C (p.Met141Thr) rs61735931 0.00533
NM_001081.4(CUBN):c.9340G>A (p.Gly3114Ser) rs117035284 0.00531
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005 0.00531
NM_002160.4(TNC):c.75C>G (p.Leu25=) rs62638691 0.00531
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=) rs45447891 0.00530
NM_014918.5(CHSY1):c.333G>A (p.Lys111=) rs117481449 0.00530
NM_000211.5(ITGB2):c.148-16del rs202011691 0.00529
NM_000782.5(CYP24A1):c.1529C>T (p.Ala510Val) rs116065115 0.00529
NM_182961.4(SYNE1):c.9890C>T (p.Thr3297Met) rs150912982 0.00528
NM_001386140.1(MTTP):c.*796C>T rs551084925 0.00527
NM_005219.5(DIAPH1):c.1045-20T>A rs75686999 0.00527
NM_173551.5(ANKS6):c.1854C>T (p.Leu618=) rs150228036 0.00527
NM_000208.4(INSR):c.1123+13G>T rs72549236 0.00526
NM_000211.5(ITGB2):c.148-18C>T rs201512257 0.00526
NM_014425.5(INVS):c.740A>G (p.Asn247Ser) rs41312220 0.00526
NM_001378454.1(ALMS1):c.12362+18A>T rs535484933 0.00525
NM_006946.4(SPTBN2):c.6723-14C>T rs186232313 0.00525
NM_182961.4(SYNE1):c.10557A>T (p.Ser3519=) rs73784326 0.00525
NM_207361.6(FREM2):c.6396C>T (p.Phe2132=) rs61745902 0.00525
NM_153717.3(EVC):c.*2132A>G rs11939264 0.00524
NM_213599.3(ANO5):c.2354T>G (p.Leu785Arg) rs146136277 0.00524
NM_002617.4(PEX10):c.6C>G (p.Ala2=) rs112471479 0.00523
NM_016373.4(WWOX):c.358C>T (p.Arg120Trp) rs141361080 0.00523
NM_206933.4(USH2A):c.4627+641G>A rs146153666 0.00523
NM_001161403.3(LIMS2):c.291G>A (p.Pro97=) rs11900522 0.00522
NM_001218.5(CA12):c.228C>T (p.Phe76=) rs139241902 0.00521
NM_006432.5(NPC2):c.*271C>T rs75936194 0.00521
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_147127.5(EVC2):c.814C>T (p.Arg272Trp) rs114142742 0.00521
NM_002180.3(IGHMBP2):c.741C>T (p.Ala247=) rs76707931 0.00520
NM_207361.6(FREM2):c.2600C>T (p.Thr867Ile) rs61995710 0.00520
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His) rs72677237 0.00519
NM_003383.5(VLDLR):c.2041C>T (p.Leu681=) rs79720897 0.00518
NM_138694.4(PKHD1):c.9829+10T>G rs143526199 0.00518
NM_002180.3(IGHMBP2):c.1104C>T (p.Tyr368=) rs148157556 0.00517
NM_138694.4(PKHD1):c.1964+17G>T rs201349527 0.00517
NM_000553.6(WRN):c.1725T>C (p.Tyr575=) rs13438802 0.00516
NM_001267550.2(TTN):c.79319G>A (p.Arg26440His) rs56044609 0.00516
NM_004565.3(PEX14):c.873C>T (p.His291=) rs115117459 0.00516
NM_022124.6(CDH23):c.3999G>A (p.Val1333=) rs111033453 0.00516
NM_144672.4(OTOA):c.121-20G>A rs7187792 0.00516
NM_001378454.1(ALMS1):c.6752A>G (p.Asp2251Gly) rs28730855 0.00515
NM_000254.3(MTR):c.1033G>A (p.Val345Ile) rs145006491 0.00514
NM_001081.4(CUBN):c.9986C>T (p.Ser3329Leu) rs74431427 0.00513
NM_002109.6(HARS1):c.1127A>G (p.Lys376Arg) rs139447495 0.00513
NM_006005.3(WFS1):c.2247G>A (p.Thr749=) rs75096624 0.00513
NM_018972.4(GDAP1):c.*2244T>C rs113763295 0.00513
NM_147127.5(EVC2):c.2863C>T (p.Arg955Trp) rs116502852 0.00513
NM_201384.3(PLEC):c.3351C>T (p.Ala1117=) rs145376880 0.00513
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met) rs41298747 0.00512
NM_000553.6(WRN):c.1788T>C (p.Ser596=) rs13438803 0.00512
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00512
NM_139319.3(SLC17A8):c.23C>T (p.Thr8Ile) rs45610843 0.00512
NM_145861.4(EDARADD):c.*285G>A rs142266831 0.00512
NM_147127.5(EVC2):c.1845C>T (p.Thr615=) rs112747818 0.00512
NM_002700.3(POU4F3):c.663C>A (p.Gly221=) rs61737151 0.00511
NM_022124.6(CDH23):c.5297T>C (p.Phe1766Ser) rs114745089 0.00511
NM_152618.3(BBS12):c.1103G>A (p.Arg368His) rs78457123 0.00511
NM_000254.3(MTR):c.3474G>A (p.Leu1158=) rs142113735 0.00510
NM_001171.6(ABCC6):c.3207C>T (p.Tyr1069=) rs60975032 0.00510
NM_021252.5(RAB18):c.*1488A>C rs148630305 0.00510
NM_000334.4(SCN4A):c.241G>C (p.Glu81Gln) rs111926172 0.00509
NM_000525.4(KCNJ11):c.108G>A (p.Val36=) rs112070496 0.00509
NM_005888.3(SLC25A3):c.-92G>A rs115763433 0.00509
NM_020964.3(EPG5):c.7443-14C>T rs150647938 0.00509
NM_002473.6(MYH9):c.5815G>A (p.Ala1939Thr) rs115031369 0.00508
NM_170784.3(MKKS):c.16G>A (p.Ala6Thr) rs150920905 0.00508
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser) rs74315394 0.00508
NM_201384.3(PLEC):c.1629G>T (p.Glu543Asp) rs201164522 0.00508
NM_001384474.1(LOXHD1):c.1843C>A (p.Arg615=) rs112463030 0.00507
NM_001814.6(CTSC):c.*279A>G rs146045268 0.00507
NM_002230.4(JUP):c.777C>T (p.Gly259=) rs34890640 0.00507
NM_000334.4(SCN4A):c.92G>T (p.Arg31Leu) rs112142736 0.00506
NM_002180.3(IGHMBP2):c.151C>G (p.Gln51Glu) rs117061430 0.00506
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) rs146722795 0.00506
NM_018972.4(GDAP1):c.*920C>G rs6982840 0.00506
NM_020632.3(ATP6V0A4):c.2035G>T (p.Asp679Tyr) rs150777839 0.00506
NM_022089.4(ATP13A2):c.453C>T (p.Ser151=) rs55979991 0.00505
NM_001081.4(CUBN):c.4696-16G>T rs140260072 0.00504
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703 0.00504
NM_001044385.3(TMEM237):c.80-11T>C rs76296365 0.00503
NM_201384.3(PLEC):c.9925C>T (p.Arg3309Cys) rs77303974 0.00503
NM_000057.4(BLM):c.3960C>T (p.Pro1320=) rs56009845 0.00502
NM_001267550.2(TTN):c.38323C>T (p.Leu12775Phe) rs186232617 0.00502
NM_022168.4(IFIH1):c.2807+1G>A rs35732034 0.00502
NM_080628.3(TLDC2):c.*18-218T>C rs114791229 0.00502
NM_001127671.2(LIFR):c.*6140C>G rs73077446 0.00501
NM_001127671.2(LIFR):c.2766T>C (p.Asp922=) rs61027880 0.00501
NM_001329943.3(KIAA0586):c.1056A>G (p.Ser352=) rs148006211 0.00501
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816 0.00500
NM_000543.5(SMPD1):c.813T>C (p.Pro271=) rs61876771 0.00500
NM_002454.3(MTRR):c.288C>T (p.Leu96=) rs35587995 0.00500
NM_003332.4(TYROBP):c.*140T>C rs113207157 0.00500
NM_020632.3(ATP6V0A4):c.1848C>T (p.Phe616=) rs143883618 0.00500
NM_194292.3(SASS6):c.312-4A>C rs149440197 0.00500
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly) rs2274083 0.00499
NM_000302.4(PLOD1):c.76+17C>T rs113691754 0.00498
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met) rs2229381 0.00498
NM_001098484.3(SLC4A4):c.*2152G>T rs151178899 0.00498
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=) rs76081119 0.00498
NM_139343.3(BIN1):c.1132-7T>C rs115938552 0.00498
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=) rs113282901 0.00497
NM_001134831.2(AHI1):c.3368C>T (p.Ser1123Phe) rs117447608 0.00497
NM_000057.4(BLM):c.615G>A (p.Lys205=) rs28903082 0.00496
NM_000277.3(PAH):c.820A>G (p.Lys274Glu) rs142934616 0.00496
NM_001267550.2(TTN):c.91884A>T (p.Arg30628Ser) rs144922355 0.00496
NM_013382.7(POMT2):c.652G>A (p.Asp218Asn) rs140785104 0.00496
NM_000070.3(CAPN3):c.318C>T (p.Cys106=) rs117609395 0.00495
NM_001083961.2(WDR62):c.866A>G (p.Lys289Arg) rs12327568 0.00494
NM_001379286.1(ZNF423):c.1194G>A (p.Pro398=) rs61747467 0.00494
NM_002180.3(IGHMBP2):c.1939G>A (p.Val647Ile) rs77822399 0.00494
NM_004415.4(DSP):c.8481C>T (p.Ser2827=) rs151029175 0.00494
NM_022124.6(CDH23):c.6687C>T (p.Asp2229=) rs76463072 0.00494
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802 0.00493
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu) rs72648984 0.00493
NM_014053.4(FLVCR1):c.*3241C>T rs113198161 0.00493
NM_015046.7(SETX):c.1807A>G (p.Asn603Asp) rs116205032 0.00493
NM_022336.4(EDAR):c.870C>T (p.Pro290=) rs3749099 0.00493
NM_000760.4(CSF3R):c.1213G>A (p.Glu405Lys) rs3918019 0.00492
NM_000492.4(CFTR):c.1581A>G (p.Glu527=) rs1800094 0.00491
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954 0.00491
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe) rs114626713 0.00491
NM_022124.6(CDH23):c.6852G>C (p.Leu2284=) rs56013867 0.00491
NM_000553.6(WRN):c.3572+19G>A rs201521208 0.00490
NM_001127671.2(LIFR):c.*5634T>C rs149932478 0.00490
NM_033629.6(TREX1):c.198G>A (p.Lys66=) rs3135943 0.00490
NM_001160372.4(TRAPPC9):c.7G>A (p.Val3Ile) rs76033442 0.00489
NM_004100.5(EYA4):c.-445C>T rs112196731 0.00488
NM_020632.3(ATP6V0A4):c.1181-4G>A rs189734354 0.00488
NM_020964.3(EPG5):c.2911T>G (p.Leu971Val) rs148777356 0.00488
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_206933.4(USH2A):c.13440G>A (p.Arg4480=) rs111033378 0.00488
NM_007259.5(VPS45):c.570C>T (p.Cys190=) rs114087868 0.00487
NM_000287.4(PEX6):c.330C>G (p.Thr110=) rs140486558 0.00486
NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val) rs140403186 0.00485
NM_014425.5(INVS):c.725C>T (p.Ser242Leu) rs2491097 0.00485
NM_022089.4(ATP13A2):c.2093T>C (p.Val698Ala) rs61734958 0.00485
NM_000243.3(MEFV):c.2163C>T (p.Phe721=) rs11466047 0.00484
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267 0.00484
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) rs41308846 0.00484
NM_000254.3(MTR):c.3599-18C>T rs116444161 0.00483
NM_018972.4(GDAP1):c.*61C>T rs73345399 0.00483
NM_001378454.1(ALMS1):c.11872+18G>A rs139647347 0.00482
NM_001384474.1(LOXHD1):c.2871G>A (p.Ser957=) rs181591912 0.00482
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=) rs140065359 0.00482
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu) rs2234917 0.00481
NM_000329.3(RPE65):c.1155G>A (p.Thr385=) rs62653014 0.00481
NM_001267550.2(TTN):c.68079G>A (p.Thr22693=) rs11904444 0.00481
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn) rs116567963 0.00481
NM_001382391.1(CSPP1):c.-121A>G rs181470846 0.00481
NM_052989.3(IFT122):c.1239G>A (p.Glu413=) rs111717774 0.00480
NM_000092.5(COL4A4):c.1833T>C (p.Gly611=) rs145806603 0.00479
NM_002310.6(LIFR):c.-20+294A>T rs186528221 0.00479
NM_005709.4(USH1C):c.1243G>A (p.Ala415Thr) rs116996553 0.00479
NM_206933.4(USH2A):c.5517G>A (p.Val1839=) rs111033421 0.00479
NM_001194998.2(CEP152):c.4914A>G (p.Pro1638=) rs150910683 0.00477
NM_015102.5(NPHP4):c.3894C>T (p.Ala1298=) rs60094861 0.00477
NM_003896.4(ST3GAL5):c.*594G>A rs116456890 0.00476
NM_005522.5(HOXA1):c.174G>C (p.Gly58=) rs77832452 0.00476
NM_006432.5(NPC2):c.190+14G>A rs189666920 0.00476
NM_017777.4(MKS1):c.1436G>A (p.Arg479His) rs111315726 0.00476
NM_001171.6(ABCC6):c.3883-24G>A rs59513011 0.00475
NM_001194998.2(CEP152):c.*194G>A rs144469727 0.00475
NM_012414.4(RAB3GAP2):c.961-14G>T rs148886986 0.00475
NM_173551.5(ANKS6):c.664C>T (p.Arg222Trp) rs41283630 0.00475
NM_021942.6(TRAPPC11):c.3310A>G (p.Thr1104Ala) rs78663235 0.00474
NM_022098.4(XPNPEP3):c.*5643C>G rs115817476 0.00474
NM_182961.4(SYNE1):c.1878A>G (p.Gln626=) rs62427038 0.00474
NM_001367624.2(ZNF469):c.62G>A (p.Arg21His) rs145178398 0.00473
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=) rs34211419 0.00473
NM_014918.5(CHSY1):c.423C>T (p.Asp141=) rs115447262 0.00473
NM_145309.6(LRRC51):c.352G>C (p.Gly118Arg) rs149637884 0.00473
NM_000302.4(PLOD1):c.*614G>T rs15431 0.00472
NM_000506.5(F2):c.1824C>T (p.Arg608=) rs3136532 0.00472
NM_000287.4(PEX6):c.1479+11C>T rs114137311 0.00471
NM_001267550.2(TTN):c.12233C>T (p.Thr4078Ile) rs80136515 0.00471
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942 0.00471
NM_003573.2(LTBP4):c.2389+9A>G rs73544980 0.00471
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802 0.00471
NM_006005.3(WFS1):c.*242G>C rs80055761 0.00471
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) rs200816691 0.00471
NM_000445.5(PLEC):c.26G>A (p.Arg9Gln) rs138978753 0.00470
NM_015046.7(SETX):c.2672T>C (p.Val891Ala) rs148181729 0.00470
NM_022464.5(SIL1):c.368C>T (p.Thr123Ile) rs115800498 0.00470
NM_024649.5(BBS1):c.1020C>G (p.Ser340=) rs35209408 0.00470
NM_001379286.1(ZNF423):c.1986C>T (p.His662=) rs75294107 0.00469
NM_006005.3(WFS1):c.-6+11C>T rs547998667 0.00469
NM_001077418.3(TMEM231):c.498G>A (p.Pro166=) rs201636741 0.00468
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=) rs72646857 0.00468
NM_001367624.2(ZNF469):c.10855G>A (p.Val3619Met) rs111494864 0.00468
NM_006721.4(ADK):c.987T>C (p.Ser329=) rs116653664 0.00468
NM_001367624.2(ZNF469):c.5414C>A (p.Pro1805His) rs78446958 0.00467
NM_001378454.1(ALMS1):c.2764C>T (p.Leu922=) rs143885319 0.00467
NM_004525.3(LRP2):c.3659C>T (p.Ala1220Val) rs144723964 0.00467
NM_020631.5(PLEKHG5):c.*1052G>A rs148036862 0.00467
NM_022098.4(XPNPEP3):c.590-9C>T rs149370388 0.00467
NM_032575.3(GLIS2):c.1464G>A (p.Leu488=) rs149580171 0.00467
NM_000124.4(ERCC6):c.3010C>T (p.Leu1004=) rs2274097 0.00466
NM_001378454.1(ALMS1):c.8742A>G (p.Val2914=) rs142611294 0.00466
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys) rs115321485 0.00466
NM_004407.4(DMP1):c.475C>A (p.Gln159Lys) rs79402270 0.00466
NM_015311.3(OBSL1):c.4192G>A (p.Val1398Ile) rs147543583 0.00466
NM_031885.5(BBS2):c.209= (p.Ser70=) rs4784677 0.00466
NM_080628.3(TLDC2):c.*28T>C rs45595032 0.00466
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085 0.00465
NM_001267550.2(TTN):c.33742+11A>G rs72650042 0.00463
NM_001379286.1(ZNF423):c.100+13G>A rs143660882 0.00463
NM_002292.4(LAMB2):c.4034G>A (p.Arg1345His) rs75073433 0.00463
NM_016239.4(MYO15A):c.3756C>T (p.Tyr1252=) rs59933498 0.00463
NM_017791.3(FLVCR2):c.*254T>C rs115212564 0.00463
NM_020631.6(PLEKHG5):c.691G>A (p.Gly231Ser) rs146651455 0.00463
NM_025074.7(FRAS1):c.9183G>A (p.Ala3061=) rs139589570 0.00463
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729 0.00463
NM_147127.5(EVC2):c.675A>G (p.Gly225=) rs74930168 0.00463
NM_000360.4(TH):c.16G>A (p.Ala6Thr) rs74555599 0.00462
NM_000180.4(GUCY2D):c.2577G>T (p.Pro859=) rs112372281 0.00461
NM_001083961.2(WDR62):c.2334-6C>A rs138928852 0.00461
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val) rs72650029 0.00461
NM_001367624.2(ZNF469):c.9125G>A (p.Arg3042His) rs150598363 0.00461
NM_033028.5(BBS4):c.1106+20T>C rs145968663 0.00461
NM_001145809.2(MYH14):c.2792G>A (p.Arg931His) rs200351672 0.00460
NM_001194998.2(CEP152):c.1866G>T (p.Leu622=) rs61737684 0.00460
NM_004525.3(LRP2):c.79+7G>A rs376136995 0.00460
NM_015102.5(NPHP4):c.2812G>A (p.Val938Met) rs184961418 0.00460
NM_020751.3(COG6):c.153+19G>A rs45508796 0.00460
NM_000243.3(MEFV):c.1760-4G>A rs79662406 0.00459
NM_000271.5(NPC1):c.3535A>G (p.Met1179Val) rs61731969 0.00459
NM_001379286.1(ZNF423):c.2562C>A (p.Pro854=) rs12599354 0.00459
NM_017739.4(POMGNT1):c.120+13C>T rs12737140 0.00459
NM_001267550.2(TTN):c.60055G>A (p.Glu20019Lys) rs201487340 0.00458
NM_033028.5(BBS4):c.748G>A (p.Gly250Arg) rs34620165 0.00458
NM_203486.3(DLL3):c.1143C>T (p.Ala381=) rs367573123 0.00458
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140 0.00457
NM_016219.5(MAN1B1):c.459G>A (p.Ser153=) rs140105878 0.00457
NM_000124.4(ERCC6):c.*1275C>G rs182177140 0.00456
NM_001283009.2(RTEL1):c.1800+14C>T rs150377952 0.00456
NM_004393.6(DAG1):c.1701C>T (p.Ser567=) rs142579425 0.00456
NM_024753.5(TTC21B):c.2950+16T>C rs142565795 0.00455
NM_201384.3(PLEC):c.13248G>A (p.Thr4416=) rs115621402 0.00455
NM_018718.3(CEP41):c.208-5A>G rs11765434 0.00453
NM_138694.4(PKHD1):c.11738G>A (p.Arg3913His) rs2661487 0.00453
NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr) rs111033338 0.00452
NM_015046.7(SETX):c.*475A>C rs60760878 0.00452
NM_139319.3(SLC17A8):c.171G>A (p.Thr57=) rs11110359 0.00452
NM_000162.5(GCK):c.339C>T (p.Asp113=) rs149412035 0.00451
NM_004565.3(PEX14):c.795A>G (p.Ser265=) rs41274484 0.00451
NM_014363.6(SACS):c.12597A>G (p.Pro4199=) rs112630127 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_000441.2(SLC26A4):c.898A>C (p.Ile300Leu) rs111033304 0.00450
NM_001173990.3(TMEM216):c.35-17C>T rs147953784 0.00450
NM_001184.4(ATR):c.1328G>C (p.Arg443Thr) rs28367453 0.00450
NM_006019.4(TCIRG1):c.247A>G (p.Lys83Glu) rs142855299 0.00448
NM_014363.6(SACS):c.11688G>A (p.Arg3896=) rs116791509 0.00448
NM_021942.6(TRAPPC11):c.2461G>A (p.Ala821Thr) rs114471872 0.00448
NM_014363.6(SACS):c.10821C>A (p.Ile3607=) rs113595574 0.00447
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala) rs140463385 0.00447
NM_182961.4(SYNE1):c.-391-9T>C rs138926036 0.00447
NM_001267550.2(TTN):c.101697C>T (p.Asp33899=) rs114267234 0.00446
NM_000492.4(CFTR):c.3718-2530A>G rs213990 0.00445
NM_016219.5(MAN1B1):c.1429G>A (p.Gly477Arg) rs75639549 0.00445
NM_017755.6(NSUN2):c.510G>A (p.Leu170=) rs144888290 0.00445
NM_021942.6(TRAPPC11):c.1366+17G>A rs146949379 0.00445
NM_014956.5(CEP164):c.3932C>G (p.Thr1311Ser) rs61743854 0.00444
NM_016373.4(WWOX):c.835C>T (p.Arg279Cys) rs77314072 0.00444
NM_001267550.2(TTN):c.3668C>T (p.Ala1223Val) rs78269740 0.00443
NM_015102.5(NPHP4):c.1705C>G (p.Gln569Glu) rs113413307 0.00443
NM_020631.6(PLEKHG5):c.2581C>T (p.Arg861Cys) rs148560273 0.00443
NM_020631.6(PLEKHG5):c.440-6A>G rs202049535 0.00443
NM_201384.3(PLEC):c.1236G>A (p.Leu412=) rs190791617 0.00443
NM_002160.4(TNC):c.1342C>G (p.Arg448Gly) rs145086096 0.00442
NM_020458.4(TTC7A):c.2170C>A (p.Gln724Lys) rs140166160 0.00442
NM_052989.3(IFT122):c.2349C>A (p.Ile783=) rs114357746 0.00442
NM_001283009.2(RTEL1):c.1548C>T (p.Val516=) rs116057134 0.00441
NM_004525.3(LRP2):c.7917A>C (p.Gly2639=) rs144126440 0.00441
NM_006996.3(SLC19A2):c.-23G>C rs181612338 0.00441
NM_206933.4(USH2A):c.7160T>C (p.Met2387Thr) rs115015305 0.00441
NM_016219.5(MAN1B1):c.1566+14C>T rs201606936 0.00440
NM_201384.3(PLEC):c.5165C>T (p.Thr1722Met) rs377665141 0.00440
NM_052989.3(IFT122):c.1993-8C>T rs531091599 0.00439
NM_152618.3(BBS12):c.355G>A (p.Gly119Ser) rs77731085 0.00439
NM_201384.3(PLEC):c.854G>A (p.Arg285Gln) rs188076386 0.00439
NM_002635.4(SLC25A3):c.*102C>A rs74604883 0.00438
NM_021252.5(RAB18):c.-20C>T rs74127323 0.00438
NM_000057.4(BLM):c.4076+4T>G rs183176301 0.00436
NM_000317.3(PTS):c.315-3T>C rs189365250 0.00436
NM_002473.6(MYH9):c.1083C>T (p.Asp361=) rs56001030 0.00436
NM_025074.7(FRAS1):c.9853C>T (p.His3285Tyr) rs182196851 0.00436
NM_002473.6(MYH9):c.2721C>T (p.Thr907=) rs148112044 0.00435
NM_003860.4(BANF1):c.204C>T (p.Gly68=) rs140057395 0.00435
NM_006765.4(TUSC3):c.862+19G>A rs144272482 0.00435
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683 0.00435
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys) rs35690634 0.00435
NM_000057.4(BLM):c.410A>G (p.Lys137Arg) rs28384988 0.00434
NM_000254.3(MTR):c.1437C>T (p.Asp479=) rs115424814 0.00432
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) rs151117904 0.00431
NM_182961.4(SYNE1):c.9542G>A (p.Ser3181Asn) rs140508714 0.00431
NM_018319.4(TDP1):c.*598G>A rs34083314 0.00430
NM_182961.4(SYNE1):c.5341A>T (p.Ile1781Phe) rs141796889 0.00430
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His) rs143044921 0.00430
NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly) rs58093963 0.00429
NM_001378454.1(ALMS1):c.7268A>G (p.Asn2423Ser) rs75145370 0.00429
NM_001382391.1(CSPP1):c.1391C>G (p.Ser464Cys) rs146431326 0.00429
NM_002857.4(PEX19):c.771+3A>G rs141133579 0.00429
NM_052989.3(IFT122):c.1113C>T (p.Asp371=) rs139319087 0.00429
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val) rs145401010 0.00428
NM_002109.6(HARS1):c.1196C>T (p.Ala399Val) rs34732372 0.00428
NM_030943.4(AMN):c.829A>G (p.Thr277Ala) rs146499374 0.00428
NM_002160.4(TNC):c.156C>T (p.His52=) rs7038329 0.00426
NM_004525.3(LRP2):c.9613A>G (p.Asn3205Asp) rs35734447 0.00426
NM_004813.4(PEX16):c.943C>T (p.Leu315=) rs150774189 0.00426
NM_014780.5(CUL7):c.5088C>T (p.Thr1696=) rs73733789 0.00426
NM_025074.7(FRAS1):c.8215G>A (p.Ala2739Thr) rs192476468 0.00426
NM_000083.3(CLCN1):c.663G>A (p.Ala221=) rs147317366 0.00424
NM_001367624.2(ZNF469):c.327G>A (p.Ala109=) rs192479136 0.00424
NM_015404.4(WHRN):c.2586C>A (p.His862Gln) rs117592152 0.00424
NM_022168.4(IFIH1):c.258C>G (p.Thr86=) rs143870870 0.00424
NM_153717.3(EVC):c.*2708G>A rs79112570 0.00424
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr) rs111033481 0.00424
NM_018319.4(TDP1):c.1317+11G>A rs36009827 0.00423
NM_031885.5(BBS2):c.805-20A>G rs41280892 0.00423
NM_000492.4(CFTR):c.-226G>T rs73717525 0.00422
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser) rs61741524 0.00422
NM_014956.5(CEP164):c.2655C>T (p.Thr885=) rs61737637 0.00422
NM_022773.4(LMF1):c.302G>C (p.Arg101Thr) rs147688306 0.00422
NM_206933.4(USH2A):c.9459C>T (p.Cys3153=) rs73090721 0.00422
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp) rs2229035 0.00421
NM_001017420.3(ESCO2):c.1735C>A (p.Pro579Thr) rs115144373 0.00421
NM_001127671.2(LIFR):c.954C>T (p.Thr318=) rs61748202 0.00421
NM_005529.7(HSPG2):c.8330G>A (p.Arg2777Gln) rs146305109 0.00421
NM_018451.5(CENPJ):c.3367-12T>C rs3742163 0.00421
NM_201384.3(PLEC):c.9423C>T (p.Gly3141=) rs61529674 0.00421
NM_000271.5(NPC1):c.882-40T>A rs144469784 0.00420
NM_001013693.3(LDLRAD2):c.*2087C>T rs117182812 0.00420
NM_002180.3(IGHMBP2):c.1821C>T (p.His607=) rs34658653 0.00420
NM_015102.5(NPHP4):c.2293G>A (p.Val765Ile) rs149244006 0.00420
NM_022095.4(ZNF335):c.3507C>T (p.His1169=) rs141812371 0.00420
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser) rs61737992 0.00419
NM_001267550.2(TTN):c.25008C>T (p.Cys8336=) rs116378128 0.00419
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044 0.00419
NM_000211.5(ITGB2):c.1026G>C (p.Val342=) rs142185460 0.00418
NM_000553.6(WRN):c.4015G>A (p.Val1339Ile) rs11574395 0.00418
NM_015102.5(NPHP4):c.2681A>G (p.His894Arg) rs113097479 0.00418
NM_206933.4(USH2A):c.11794C>T (p.Leu3932=) rs111033505 0.00418
NM_000254.3(MTR):c.155G>A (p.Arg52Gln) rs12749581 0.00417
NM_001367624.2(ZNF469):c.10795G>T (p.Ala3599Ser) rs199760004 0.00417
NM_016042.4(EXOSC3):c.540T>C (p.Cys180=) rs62640003 0.00417
NM_022095.4(ZNF335):c.826G>A (p.Ala276Thr) rs117802609 0.00417
NM_000208.4(INSR):c.870C>T (p.His290=) rs74483718 0.00416
NM_001083961.2(WDR62):c.3946C>G (p.Gln1316Glu) rs35811023 0.00416
NM_001184.4(ATR):c.423T>C (p.Ile141=) rs10935466 0.00416
NM_006892.4(DNMT3B):c.1557G>A (p.Gln519=) rs150314851 0.00416
NM_147127.5(EVC2):c.307T>C (p.Leu103=) rs140877783 0.00416
NM_001184.4(ATR):c.4764C>T (p.Leu1588=) rs142240637 0.00415
NM_012448.4(STAT5B):c.247C>T (p.Leu83=) rs146176992 0.00415
NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn) rs143070183 0.00415
NM_001083961.2(WDR62):c.1225A>G (p.Asn409Asp) rs146180912 0.00414
NM_001184.4(ATR):c.4820G>A (p.Ser1607Asn) rs55724025 0.00414
NM_001283009.2(RTEL1):c.2775C>T (p.Ser925=) rs12480346 0.00414
NM_002454.3(MTRR):c.1468A>G (p.Thr490Ala) rs41283145 0.00414
NM_206933.4(USH2A):c.6270A>G (p.Leu2090=) rs56245532 0.00414
NM_016239.4(MYO15A):c.2562C>T (p.Cys854=) rs182293382 0.00413
NM_018319.4(TDP1):c.1705A>G (p.Thr569Ala) rs35973343 0.00413
NM_022464.5(SIL1):c.189T>G (p.Asp63Glu) rs115591710 0.00413
NM_001378454.1(ALMS1):c.4605A>G (p.Gln1535=) rs144720929 0.00412
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn) rs12344006 0.00412
NM_182961.4(SYNE1):c.2220G>A (p.Met740Ile) rs146001055 0.00412
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054 0.00411
NM_001283009.2(RTEL1):c.1953C>T (p.Arg651=) rs79210260 0.00411
NM_001384140.1(PCDH15):c.3502-8C>T rs184144118 0.00411
NM_016219.5(MAN1B1):c.1713C>T (p.Ile571=) rs12000048 0.00411
NM_020631.6(PLEKHG5):c.1254C>G (p.Pro418=) rs139904931 0.00411
NM_022464.5(SIL1):c.900C>T (p.Phe300=) rs35080367 0.00410
NM_024989.4(PGAP1):c.1753C>G (p.Gln585Glu) rs62185645 0.00410
NM_207361.6(FREM2):c.7068C>T (p.Ala2356=) rs74577582 0.00410
NM_005708.5(GPC6):c.64G>A (p.Gly22Arg) rs150023233 0.00409
NM_201384.3(PLEC):c.13402G>A (p.Ala4468Thr) rs112322162 0.00409
NM_000260.4(MYO7A):c.5835C>T (p.Leu1945=) rs111033476 0.00408
NM_001379286.1(ZNF423):c.3291C>T (p.Tyr1097=) rs150027129 0.00408
NM_005529.7(HSPG2):c.5756G>A (p.Arg1919His) rs62642521 0.00408
NM_015102.5(NPHP4):c.511G>A (p.Ala171Thr) rs113765431 0.00408
NM_207361.6(FREM2):c.4730T>C (p.Ile1577Thr) rs114798977 0.00408
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297 0.00407
NM_001081.4(CUBN):c.1003G>A (p.Ala335Thr) rs57335729 0.00406
NM_001267550.2(TTN):c.59165T>C (p.Val19722Ala) rs116592778 0.00406
NM_005529.7(HSPG2):c.10151-8C>T rs184079211 0.00406
NM_005529.7(HSPG2):c.4132G>A (p.Glu1378Lys) rs62642525 0.00406
NM_080628.3(TLDC2):c.*18-938G>C rs116489517 0.00406
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105 0.00406
NM_207361.6(FREM2):c.4726C>G (p.Pro1576Ala) rs116742938 0.00406
NM_000211.5(ITGB2):c.1542C>T (p.Cys514=) rs2230530 0.00405
NM_001267550.2(TTN):c.13706G>A (p.Ser4569Asn) rs115532048 0.00405
NM_002109.6(HARS1):c.181-15G>C rs184748736 0.00405
NM_020964.3(EPG5):c.4039A>C (p.Asn1347His) rs144860976 0.00405
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln) rs72647894 0.00404
NM_001384474.1(LOXHD1):c.457C>T (p.Arg153Cys) rs112618498 0.00404
NM_153240.5(NPHP3):c.2089-9C>T rs141397228 0.00404
NM_201384.3(PLEC):c.5712C>T (p.Ser1904=) rs115735672 0.00404
NM_201384.3(PLEC):c.7074G>A (p.Ala2358=) rs146381488 0.00404
NM_206933.4(USH2A):c.8937A>G (p.Val2979=) rs139100097 0.00404
NM_000784.4(CYP27A1):c.673C>T (p.Arg225Cys) rs114768494 0.00403
NM_001081.4(CUBN):c.7868A>C (p.Glu2623Ala) rs115449747 0.00403
NM_001367624.2(ZNF469):c.7675A>G (p.Lys2559Glu) rs146789160 0.00403
NM_005236.3(ERCC4):c.1446A>G (p.Glu482=) rs114077770 0.00403
NM_139343.3(BIN1):c.888C>T (p.Ser296=) rs114833236 0.00403
NM_201384.3(PLEC):c.3682C>T (p.Arg1228Trp) rs144610086 0.00403
NM_001379286.1(ZNF423):c.2328C>T (p.His776=) rs73565356 0.00402
NM_014918.5(CHSY1):c.1518T>C (p.Phe506=) rs145002451 0.00402
NM_080628.3(TLDC2):c.*43G>A rs115645414 0.00402
NM_000254.3(MTR):c.2474-17A>T rs571901048 0.00401
NM_000254.3(MTR):c.2815G>C (p.Gly939Arg) rs113042166 0.00401
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=) rs111033516 0.00401
NM_015102.5(NPHP4):c.279+11G>A rs113902159 0.00401
NM_022336.4(EDAR):c.1179C>T (p.Asp393=) rs115930248 0.00401
NM_201384.3(PLEC):c.6757G>A (p.Ala2253Thr) rs62641756 0.00401
NM_000162.5(GCK):c.618G>A (p.Thr206=) rs142817246 0.00400
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=) rs56169243 0.00400
NM_022336.4(EDAR):c.*254C>T rs148961371 0.00400
NM_201384.3(PLEC):c.5304G>A (p.Leu1768=) rs186670912 0.00400
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00399
NM_015046.7(SETX):c.7371T>C (p.His2457=) rs113071480 0.00399
NM_018389.5(SLC35C1):c.1047G>A (p.Pro349=) rs113735964 0.00399
NM_020964.3(EPG5):c.5583C>T (p.Cys1861=) rs200372908 0.00399
NM_032492.4(JAGN1):c.498C>T (p.Ser166=) rs61738795 0.00399
NM_001267550.2(TTN):c.15850G>A (p.Val5284Met) rs66839174 0.00398
NM_001379286.1(ZNF423):c.3226C>A (p.Leu1076Met) rs79706004 0.00398
NM_002180.3(IGHMBP2):c.1770T>C (p.Phe590=) rs138997061 0.00398
NM_015311.3(OBSL1):c.5280C>T (p.Pro1760=) rs373081802 0.00398
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln) rs141340867 0.00398
NM_001374623.1(PNPLA1):c.691G>A (p.Ala231Thr) rs74946910 0.00397
NM_005529.7(HSPG2):c.2596G>A (p.Gly866Ser) rs62642529 0.00397
NM_001111.5(ADAR):c.298= (p.Arg100=) rs1466731 0.00396
NM_002160.4(TNC):c.96G>A (p.Lys32=) rs145367019 0.00396
NM_031471.6(FERMT3):c.1917G>A (p.Thr639=) rs150686744 0.00396
NM_005422.4(TECTA):c.2781T>C (p.His927=) rs142903119 0.00395
NM_152617.4(RNF168):c.1237G>A (p.Glu413Lys) rs6790173 0.00395
NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=) rs140861713 0.00395
NM_182961.4(SYNE1):c.20199+16C>T rs114739771 0.00395
NM_001378454.1(ALMS1):c.6007A>G (p.Ile2003Val) rs7587103 0.00394
NM_014053.4(FLVCR1):c.*1317A>G rs145011972 0.00394
NM_014425.5(INVS):c.1948G>C (p.Ala650Pro) rs147452898 0.00394
NM_016239.4(MYO15A):c.8339C>T (p.Thr2780Met) rs143826293 0.00394
NM_206933.4(USH2A):c.8458G>A (p.Val2820Ile) rs59174500 0.00394
NM_002160.4(TNC):c.1508G>A (p.Arg503Lys) rs114407480 0.00393
NM_206933.4(USH2A):c.8319C>T (p.Ser2773=) rs56829872 0.00393
NM_000254.3(MTR):c.669+20C>T rs200305844 0.00392
NM_002180.3(IGHMBP2):c.1294G>A (p.Ala432Thr) rs116012780 0.00392
NM_003619.4(PRSS12):c.28C>G (p.Leu10Val) rs143520192 0.00392
NM_016219.5(MAN1B1):c.794G>A (p.Arg265His) rs114057640 0.00392
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe) rs116262072 0.00392
NM_000019.4(ACAT1):c.903G>A (p.Ala301=) rs75811190 0.00390
NM_012414.4(RAB3GAP2):c.1779+7G>A rs111345353 0.00390
NM_022336.4(EDAR):c.813T>C (p.Asp271=) rs3749098 0.00390
NM_031471.6(FERMT3):c.684-5C>G rs112945490 0.00390
NM_001386140.1(MTTP):c.2043G>A (p.Glu681=) rs145444300 0.00389
NM_006005.3(WFS1):c.917T>C (p.Met306Thr) rs146114074 0.00389
NM_031885.5(BBS2):c.1110T>C (p.Ala370=) rs148990271 0.00389
NM_004836.7(EIF2AK3):c.69C>T (p.Leu23=) rs549451772 0.00388
NM_015311.3(OBSL1):c.3283G>A (p.Ala1095Thr) rs186692362 0.00388
NM_022336.4(EDAR):c.723G>A (p.Glu241=) rs3749108 0.00388
NM_147127.5(EVC2):c.3561A>G (p.Lys1187=) rs76523157 0.00388
NM_182961.4(SYNE1):c.1983C>T (p.Asn661=) rs149670417 0.00388
NM_004407.4(DMP1):c.*380C>T rs150349595 0.00387
NM_015311.3(OBSL1):c.3399G>A (p.Gly1133=) rs115915650 0.00387
NM_016938.5(EFEMP2):c.161-10C>T rs2234461 0.00387
NM_138395.4(MARS2):c.1580T>C (p.Val527Ala) rs141544058 0.00387
NM_000208.4(INSR):c.*4270G>A rs74433419 0.00386
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile) rs142293185 0.00386
NM_001081.4(CUBN):c.3292G>T (p.Ala1098Ser) rs146593010 0.00386
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074 0.00385
NM_001143992.2(WRAP53):c.807C>T (p.Arg269=) rs35307405 0.00385
NM_206933.4(USH2A):c.486-13G>A rs116367260 0.00385
NM_004525.3(LRP2):c.13620+14C>G rs142018904 0.00384
NM_014425.5(INVS):c.2116A>G (p.Arg706Gly) rs116222916 0.00384
NM_207361.6(FREM2):c.3979T>A (p.Leu1327Ile) rs116653247 0.00384
NM_000057.4(BLM):c.1122T>C (p.His374=) rs28385009 0.00382
NM_004153.4(ORC1):c.1186C>T (p.Arg396Trp) rs114426997 0.00382
NM_000352.6(ABCC8):c.2958G>A (p.Ser986=) rs58820146 0.00381
NM_001127649.3(PEX26):c.815-13C>T rs139370593 0.00381
NM_022098.4(XPNPEP3):c.*3955A>G rs138848856 0.00381
NM_182961.4(SYNE1):c.1794A>C (p.Ser598=) rs141424852 0.00381
NM_001194998.2(CEP152):c.4094-9A>T rs80090788 0.00380
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_000057.4(BLM):c.3020-66T>C rs28385101 0.00379
NM_001267550.2(TTN):c.7740T>G (p.Ile2580Met) rs146590898 0.00379
NM_022124.6(CDH23):c.9015G>A (p.Ala3005=) rs376497158 0.00379
NM_022124.6(CDH23):c.9510+13C>T rs183692794 0.00379
NM_182961.4(SYNE1):c.6135T>G (p.Ile2045Met) rs116600265 0.00379
NM_201384.3(PLEC):c.4044+16C>T rs182039608 0.00379
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile) rs111033269 0.00379
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile) rs116099212 0.00379
NM_000441.2(SLC26A4):c.565G>T (p.Ala189Ser) rs35045430 0.00378
NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val) rs138171526 0.00378
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) rs72650011 0.00378
NM_148919.4(PSMB8):c.483G>A (p.Gln161=) rs41270492 0.00378
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys) rs72648272 0.00377
NM_002473.6(MYH9):c.2229+13G>T rs139146113 0.00377
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723 0.00376
NM_000492.4(CFTR):c.-812T>G rs181008242 0.00375
NM_001077418.3(TMEM231):c.891G>A (p.Val297=) rs149888762 0.00375
NM_002109.6(HARS1):c.1261C>G (p.Leu421Val) rs34790864 0.00375
NM_016938.5(EFEMP2):c.138C>T (p.Asp46=) rs2234457 0.00375
NM_198428.3(BBS9):c.1246G>A (p.Val416Met) rs61764067 0.00375
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile) rs2723669 0.00374
NM_001614.5(ACTG1):c.-6-3C>T rs140724578 0.00374
NM_005529.7(HSPG2):c.9945G>A (p.Thr3315=) rs77713482 0.00374
NM_006996.3(SLC19A2):c.561G>T (p.Leu187=) rs150548640 0.00374
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val) rs139767853 0.00374
NM_201384.3(PLEC):c.6513G>A (p.Lys2171=) rs184102912 0.00374
NM_201384.3(PLEC):c.9895C>T (p.Arg3299Trp) rs142805337 0.00374
NM_000271.5(NPC1):c.3450C>T (p.Asn1150=) rs34715591 0.00373
NM_001194998.2(CEP152):c.3325G>C (p.Ala1109Pro) rs115832709 0.00373
NM_001283009.2(RTEL1):c.3110-17T>C rs192060579 0.00373
NM_022098.4(XPNPEP3):c.*2611G>T rs144498602 0.00373
NM_000260.4(MYO7A):c.5481-14G>A rs113075052 0.00372
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile) rs141856116 0.00372
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498 0.00372
NM_000271.5(NPC1):c.1947+14_1947+15insC rs201170241 0.00371
NM_000543.5(SMPD1):c.99G>A (p.Met33Ile) rs142178073 0.00371
NM_001367624.2(ZNF469):c.5824G>A (p.Gly1942Arg) rs114755302 0.00371
NM_015311.3(OBSL1):c.1245G>A (p.Arg415=) rs61732788 0.00371
NM_016219.5(MAN1B1):c.861C>T (p.Leu287=) rs142928152 0.00371
NM_025114.4(CEP290):c.1522+6C>T rs148446546 0.00371
NM_000302.4(PLOD1):c.802A>G (p.Thr268Ala) rs74354225 0.00370
NM_016122.3(CEP83):c.324+12T>A rs200764782 0.00370
NM_020661.4(AICDA):c.585T>C (p.Thr195=) rs78590060 0.00370
NM_198428.3(BBS9):c.390T>C (p.Asn130=) rs78283245 0.00370
NM_000243.3(MEFV):c.42G>A (p.Glu14=) rs113314808 0.00369
NM_003896.4(ST3GAL5):c.648C>T (p.Phe216=) rs149309844 0.00369
NM_004100.5(EYA4):c.*2918G>A rs75986250 0.00369
NM_004525.3(LRP2):c.6194T>C (p.Ile2065Thr) rs2228168 0.00369
NM_020964.3(EPG5):c.3436T>C (p.Leu1146=) rs9965714 0.00369
NM_018451.5(CENPJ):c.1233G>A (p.Pro411=) rs112133852 0.00368
NM_015102.5(NPHP4):c.1503+10G>A rs41307782 0.00367
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter) rs35744605 0.00367
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114 0.00366
NM_002454.3(MTRR):c.1819G>A (p.Val607Ile) rs114259126 0.00366
NM_004153.4(ORC1):c.1584-4C>G rs114617697 0.00366
NM_006005.3(WFS1):c.225C>T (p.Asp75=) rs35216268 0.00366
NM_147127.5(EVC2):c.2047-9A>T rs73198154 0.00366
NM_147127.5(EVC2):c.3375A>G (p.Ala1125=) rs116076068 0.00366
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln) rs35336155 0.00366
NM_001267550.2(TTN):c.10854A>C (p.Gln3618His) rs79466278 0.00365
NM_025074.7(FRAS1):c.10160T>C (p.Leu3387Pro) rs137982616 0.00365
NM_001267550.2(TTN):c.66160+16G>A rs149714835 0.00364
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325 0.00364
NM_015046.7(SETX):c.3568A>G (p.Lys1190Glu) rs35473230 0.00364
NM_207361.6(FREM2):c.6925+7G>T rs79530106 0.00364
NM_000070.3(CAPN3):c.1537-33G>A rs143412460 0.00363
NM_000124.4(ERCC6):c.4114G>A (p.Gly1372Arg) rs4253227 0.00363
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly) rs35248744 0.00363
NM_000287.4(PEX6):c.1071A>G (p.Leu357=) rs116318004 0.00363
NM_000553.6(WRN):c.1577-17T>G rs145080962 0.00363
NM_000760.4(CSF3R):c.1319G>A (p.Arg440Gln) rs3918020 0.00363
NM_001048166.1(STIL):c.2384-13A>G rs140975915 0.00362
NM_001267550.2(TTN):c.34474C>A (p.Pro11492Thr) rs182428755 0.00362
NM_001384474.1(LOXHD1):c.1945G>A (p.Asp649Asn) rs141932807 0.00362
NM_012448.4(STAT5B):c.2077+12C>T rs80293897 0.00362
NM_153240.5(NPHP3):c.520-10C>G rs200144727 0.00362
NM_001040167.2(LFNG):c.481+3G>A rs141008352 0.00361
NM_001378454.1(ALMS1):c.1182T>C (p.Tyr394=) rs139512700 0.00361
NM_020779.4(WDR35):c.2414+20C>T rs116756504 0.00361
NM_025074.7(FRAS1):c.*258G>A rs114161007 0.00361
NM_198428.3(BBS9):c.*453C>G rs74748415 0.00361
NM_201384.3(PLEC):c.10338C>T (p.Ser3446=) rs62642461 0.00361
NM_006846.4(SPINK5):c.1128C>T (p.Asn376=) rs78128189 0.00360
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471 0.00359
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00359
NM_001382391.1(CSPP1):c.100-13A>G rs78076942 0.00359
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) rs148206382 0.00359
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909 0.00359
NM_015046.7(SETX):c.6108A>G (p.Gly2036=) rs35815657 0.00358
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp) rs143179070 0.00358
NM_000180.4(GUCY2D):c.1566+17G>A rs140657975 0.00357
NM_003573.2(LTBP4):c.79C>T (p.Leu27=) rs370696272 0.00357
NM_147127.5(EVC2):c.2601C>T (p.Ala867=) rs116514447 0.00357
NM_147127.5(EVC2):c.707-4G>A rs113806963 0.00357
NM_005219.5(DIAPH1):c.3227T>G (p.Phe1076Cys) rs143763573 0.00356
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn) rs74447004 0.00356
NM_194292.3(SASS6):c.1835G>A (p.Arg612His) rs143522528 0.00356
NM_004004.6(GJB2):c.-6T>A rs148136545 0.00355
NM_024753.5(TTC21B):c.1571C>G (p.Ser524Cys) rs145436538 0.00355
NM_139319.3(SLC17A8):c.*1295T>C rs139917587 0.00355
NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser) rs34302553 0.00354
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp) rs72648964 0.00354
NM_003896.4(ST3GAL5):c.37C>T (p.Pro13Ser) rs559756386 0.00354
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_005219.5(DIAPH1):c.891G>A (p.Pro297=) rs116463365 0.00354
NM_005708.5(GPC6):c.*2465A>G rs115005705 0.00354
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) rs56002719 0.00354
NM_020632.3(ATP6V0A4):c.*73C>T rs78419825 0.00354
NM_020964.3(EPG5):c.18G>A (p.Lys6=) rs181345590 0.00354
NM_144596.4(TTC8):c.194A>G (p.Asp65Gly) rs114557412 0.00354
NM_153717.3(EVC):c.1855G>A (p.Val619Ile) rs111293777 0.00354
NM_206933.4(USH2A):c.14543G>A (p.Arg4848Gln) rs77211159 0.00354
NM_001283009.2(RTEL1):c.1017C>T (p.Ser339=) rs35877957 0.00353
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser) rs34084984 0.00352
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=) rs116436235 0.00352
NM_153717.3(EVC):c.*2285C>G rs145479436 0.00352
NM_000414.4(HSD17B4):c.666C>G (p.Val222=) rs150677536 0.00351
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_002617.4(PEX10):c.621C>G (p.Pro207=) rs140107510 0.00350
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=) rs147258619 0.00349
NM_001081.4(CUBN):c.6997A>G (p.Ile2333Val) rs149507036 0.00349
NM_001184.4(ATR):c.6394T>G (p.Tyr2132Asp) rs28910273 0.00349
NM_001017420.3(ESCO2):c.820C>G (p.Leu274Val) rs111667783 0.00348
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr) rs146416468 0.00348
NM_002160.4(TNC):c.1719C>T (p.Cys573=) rs141544394 0.00347
NM_004004.6(GJB2):c.*786G>A rs187158699 0.00347
NM_005529.7(HSPG2):c.11294G>A (p.Ser3765Asn) rs114223739 0.00347
NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser) rs149073355 0.00347
NM_000057.4(BLM):c.893C>T (p.Thr298Met) rs28384991 0.00346
NM_001098484.3(SLC4A4):c.2436A>G (p.Lys812=) rs34772799 0.00346
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu) rs41308435 0.00346
NM_006846.4(SPINK5):c.3183G>A (p.Pro1061=) rs77756935 0.00345
NM_016219.5(MAN1B1):c.1905G>T (p.Ser635=) rs114484315 0.00344
NM_016938.5(EFEMP2):c.277G>A (p.Gly93Ser) rs2234462 0.00344
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg) rs187401185 0.00343
NM_001267550.2(TTN):c.75441A>G (p.Lys25147=) rs56151652 0.00343
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe) rs146181116 0.00343
NM_013382.7(POMT2):c.2148-18A>G rs138488805 0.00343
NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser) rs80132141 0.00343
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972 0.00343
NM_000271.5(NPC1):c.2795+19T>C rs200103695 0.00342
NM_001130987.2(DYSF):c.1145C>T (p.Ala382Val) rs115279465 0.00342
NM_004525.3(LRP2):c.149C>G (p.Thr50Ser) rs114460450 0.00342
NM_006642.5(SDCCAG8):c.986C>T (p.Thr329Met) rs35859404 0.00342
NM_000123.4(ERCC5):c.641G>A (p.Arg214His) rs146833751 0.00341
NM_000243.3(MEFV):c.1467G>A (p.Gln489=) rs61732424 0.00341
NM_002454.3(MTRR):c.876C>T (p.Thr292=) rs144724549 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_147127.5(EVC2):c.2029C>A (p.Arg677=) rs73198165 0.00341
NM_000180.4(GUCY2D):c.1371C>T (p.Cys457=) rs55916957 0.00340
NM_001184.4(ATR):c.2290A>G (p.Lys764Glu) rs77208665 0.00340
NM_001367624.2(ZNF469):c.10472C>G (p.Pro3491Arg) rs183437633 0.00340
NM_004525.3(LRP2):c.403G>A (p.Asp135Asn) rs142594441 0.00340
NM_016219.5(MAN1B1):c.1146A>G (p.Gly382=) rs113389928 0.00340
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674 0.00340
NM_000243.3(MEFV):c.333G>A (p.Gly111=) rs61732425 0.00339
NM_001080476.3(GRXCR1):c.272G>T (p.Gly91Val) rs113203706 0.00339
NM_001101426.4(CRPPA):c.1251+18C>T rs201599524 0.00339
NM_182961.4(SYNE1):c.19991C>T (p.Thr6664Ile) rs35079654 0.00339
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_006846.4(SPINK5):c.2442-16A>G rs148657069 0.00338
NM_012414.4(RAB3GAP2):c.3924G>C (p.Thr1308=) rs73098539 0.00338
NM_022095.4(ZNF335):c.3488-6G>A rs201983124 0.00338
NM_016938.5(EFEMP2):c.368-18G>A rs80047413 0.00337
NM_139319.3(SLC17A8):c.*507G>A rs73376066 0.00337
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=) rs111033228 0.00336
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=) rs116204385 0.00336
NM_006846.4(SPINK5):c.2061G>A (p.Gln687=) rs36111383 0.00336
NM_015311.3(OBSL1):c.4067-12C>T rs144059707 0.00336
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly) rs121909046 0.00335
NM_153700.2(STRC):c.3540T>G (p.Leu1180=) rs199524735 0.00335
NM_000414.4(HSD17B4):c.-28C>T rs34353289 0.00334
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=) rs201059992 0.00334
NM_001267550.2(TTN):c.10114+5G>A rs115985443 0.00334
NM_001267550.2(TTN):c.10931G>A (p.Ser3644Asn) rs78535378 0.00334
NM_017433.5(MYO3A):c.949G>C (p.Ala317Pro) rs61731652 0.00334
NM_020631.6(PLEKHG5):c.1724C>T (p.Pro575Leu) rs77134982 0.00334
NM_024596.5(MCPH1):c.989A>G (p.Tyr330Cys) rs115088000 0.00334
NM_052989.3(IFT122):c.1908T>C (p.Ile636=) rs139722192 0.00334
NM_138387.4(G6PC3):c.815A>G (p.Gln272Arg) rs34491309 0.00334
NM_147127.5(EVC2):c.1224C>T (p.Ala408=) rs114629810 0.00334
NM_153240.5(NPHP3):c.1189C>T (p.Arg397Cys) rs141477666 0.00334
NM_013382.7(POMT2):c.1262G>A (p.Arg421Gln) rs151078549 0.00333
NM_018136.5(ASPM):c.6775T>C (p.Leu2259=) rs140922974 0.00333
NM_001077365.2(POMT1):c.1585-14C>T rs78529026 0.00332
NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr) rs72648923 0.00332
NM_133379.5(TTN):c.12067G>A (p.Gly4023Arg) rs143253411 0.00332
NM_014053.4(FLVCR1):c.*3032G>T rs76321605 0.00330
NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly) rs187947581 0.00330
NM_016219.5(MAN1B1):c.1956T>C (p.Pro652=) rs75234317 0.00330
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=) rs77351928 0.00330
NM_182961.4(SYNE1):c.17542-14A>G rs111686341 0.00330
NM_201384.3(PLEC):c.7880C>G (p.Pro2627Arg) rs184879368 0.00330
NM_001039958.2(MESP2):c.717G>C (p.Gly239=) rs181559095 0.00329
NM_001283009.2(RTEL1):c.1761G>A (p.Pro587=) rs116900568 0.00329
NM_014918.5(CHSY1):c.1325T>C (p.Met442Thr) rs148193087 0.00329
NM_016219.5(MAN1B1):c.1761C>G (p.Val587=) rs115889896 0.00329
NM_016219.5(MAN1B1):c.183C>T (p.Asp61=) rs202182837 0.00329
NM_016219.5(MAN1B1):c.1896+7A>G rs143544706 0.00329
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_015102.5(NPHP4):c.4237G>A (p.Asp1413Asn) rs115910810 0.00328
NM_001130987.2(DYSF):c.2107C>G (p.Leu703Val) rs74423119 0.00327
NM_015311.3(OBSL1):c.3390T>C (p.Gly1130=) rs200777549 0.00327
NM_016219.5(MAN1B1):c.1845A>G (p.Lys615=) rs77684216 0.00327
NM_020751.3(COG6):c.1180A>G (p.Asn394Asp) rs34623774 0.00327
NM_148919.4(PSMB8):c.*140G>A rs115433903 0.00327
NM_206933.4(USH2A):c.15297+3A>G rs57754754 0.00327
NM_001267550.2(TTN):c.9150A>G (p.Thr3050=) rs72647886 0.00326
NM_002860.4(ALDH18A1):c.2001G>A (p.Glu667=) rs78731297 0.00326
NM_004525.3(LRP2):c.6967C>T (p.Leu2323=) rs149367019 0.00326
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952 0.00326
NM_016219.5(MAN1B1):c.220-20A>C rs116149955 0.00326
NM_016373.4(WWOX):c.332C>G (p.Thr111Ser) rs114755364 0.00326
NM_020661.4(AICDA):c.267C>T (p.Asp89=) rs74334270 0.00326
NM_201384.3(PLEC):c.10759C>T (p.Leu3587=) rs200006106 0.00326
NM_201384.3(PLEC):c.5476C>T (p.Arg1826Trp) rs200575795 0.00326
NM_147127.5(EVC2):c.2621G>A (p.Arg874Gln) rs114764023 0.00325
NM_182961.4(SYNE1):c.21882C>A (p.Gly7294=) rs35106977 0.00325
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=) rs150814269 0.00324
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841 0.00324
NM_001283009.2(RTEL1):c.1349-17C>T rs58559263 0.00324
NM_002160.4(TNC):c.3286G>A (p.Ala1096Thr) rs138406927 0.00324
NM_004565.3(PEX14):c.349G>T (p.Ala117Ser) rs12061667 0.00324
NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=) rs56351817 0.00324
NM_022124.6(CDH23):c.4875G>A (p.Val1625=) rs149664909 0.00324
NM_022336.4(EDAR):c.*2078T>C rs115501541 0.00324
NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro) rs57479434 0.00323
NM_001267550.2(TTN):c.58636G>C (p.Glu19546Gln) rs201840554 0.00323
NM_020964.3(EPG5):c.5653T>C (p.Leu1885=) rs114131140 0.00323
NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val) rs72646891 0.00322
NM_004525.3(LRP2):c.2933C>T (p.Thr978Met) rs114842875 0.00322
NM_013335.4(GMPPA):c.768C>T (p.Tyr256=) rs146215853 0.00322
NM_014053.4(FLVCR1):c.*2540T>C rs79275553 0.00322
NM_016219.5(MAN1B1):c.1897-12G>A rs76740252 0.00322
NM_020458.4(TTC7A):c.176C>G (p.Pro59Arg) rs201805434 0.00322
NM_000243.3(MEFV):c.1759+8C>T rs77380520 0.00321
NM_000254.3(MTR):c.1076-8C>T rs115186224 0.00321
NM_001017420.3(ESCO2):c.1647T>C (p.Ile549=) rs73568217 0.00321
NM_001127671.2(LIFR):c.789A>G (p.Val263=) rs141925289 0.00321
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_000070.3(CAPN3):c.1746-20C>G rs201892814 0.00320
NM_001367624.2(ZNF469):c.6489G>A (p.Gln2163=) rs572299080 0.00320
NM_147127.5(EVC2):c.2648C>T (p.Ala883Val) rs140951974 0.00320
NM_147127.5(EVC2):c.864C>T (p.Asn288=) rs144730069 0.00320
NM_003896.4(ST3GAL5):c.850-5C>T rs113976691 0.00319
NM_005529.7(HSPG2):c.12220C>T (p.Arg4074Cys) rs140139732 0.00319
NM_144596.4(TTC8):c.1401G>A (p.Pro467=) rs114064158 0.00319
NM_147127.5(EVC2):c.1471-7T>C rs150842594 0.00319
NM_012233.3(RAB3GAP1):c.*1826G>C rs114264557 0.00318
NM_012414.4(RAB3GAP2):c.*925C>T rs185747953 0.00318
NM_033064.4(ATCAY):c.-390A>G rs140876148 0.00318
NM_000211.5(ITGB2):c.229G>A (p.Asp77Asn) rs141799330 0.00317
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=) rs140003804 0.00317
NM_001267550.2(TTN):c.32743G>C (p.Ala10915Pro) rs72650032 0.00317
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln) rs55762754 0.00317
NM_018718.3(CEP41):c.*2482A>T rs189091601 0.00317
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg) rs75977701 0.00316
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile) rs141624266 0.00316
NM_001267550.2(TTN):c.25921+20G>A rs148460010 0.00315
NM_001384474.1(LOXHD1):c.6270G>A (p.Arg2090=) rs367833904 0.00315
NM_001329943.3(KIAA0586):c.4047G>A (p.Ala1349=) rs61729923 0.00314
NM_000083.3(CLCN1):c.316C>G (p.Leu106Val) rs145517198 0.00313
NM_001267550.2(TTN):c.31847-17A>G rs72650025 0.00313
NM_001329943.3(KIAA0586):c.1570T>A (p.Leu524Ile) rs61742715 0.00313
NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met) rs143543800 0.00313
NM_014956.5(CEP164):c.1639G>A (p.Glu547Lys) rs116343381 0.00313
NM_018451.5(CENPJ):c.*570T>C rs139596189 0.00313
NM_138694.4(PKHD1):c.2715+7del rs551015414 0.00313
NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys) rs143766955 0.00312
NM_002292.4(LAMB2):c.3858G>T (p.Val1286=) rs34967349 0.00312
NM_005529.7(HSPG2):c.13088C>T (p.Ser4363Leu) rs62642502 0.00312
NM_014425.5(INVS):c.1284T>C (p.His428=) rs77465715 0.00312
NM_000553.6(WRN):c.95A>G (p.Lys32Arg) rs34477820 0.00310
NM_001083961.2(WDR62):c.3812C>T (p.Ala1271Val) rs111294536 0.00310
NM_001267550.2(TTN):c.30231A>G (p.Pro10077=) rs74324101 0.00310
NM_016219.5(MAN1B1):c.1499G>A (p.Arg500Gln) rs149339002 0.00309
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=) rs139657823 0.00308
NM_001267550.2(TTN):c.32750C>T (p.Pro10917Leu) rs73973137 0.00308
NM_020964.3(EPG5):c.5700T>C (p.Phe1900=) rs34545102 0.00308
NM_153717.3(EVC):c.*1185A>G rs113728951 0.00308
NM_001267550.2(TTN):c.15584A>G (p.Glu5195Gly) rs72648931 0.00307
NM_001127671.2(LIFR):c.2498-7G>A rs113078097 0.00306
NM_001283009.2(RTEL1):c.3056A>G (p.Gln1019Arg) rs116053476 0.00305
NM_025114.4(CEP290):c.6960+10G>A rs75011402 0.00305
NM_000370.3(TTPA):c.664-4T>G rs2045224 0.00304
NM_001111.5(ADAR):c.2553C>T (p.Cys851=) rs138927668 0.00304
NM_001199107.2(TBC1D24):c.1427C>A (p.Ala476Asp) rs202216463 0.00304
NM_005529.7(HSPG2):c.3336C>T (p.Pro1112=) rs2228348 0.00304
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu) rs34000644 0.00304
NM_000057.4(BLM):c.2160C>T (p.Ile720=) rs28385028 0.00303
NM_002454.3(MTRR):c.210C>G (p.Arg70=) rs41282641 0.00303
NM_016219.5(MAN1B1):c.1065+16T>A rs200957986 0.00303
NM_032119.4(ADGRV1):c.16949C>G (p.Thr5650Ser) rs61748627 0.00303
NM_145861.4(EDARADD):c.*417G>A rs189781826 0.00303
NM_014956.5(CEP164):c.3773C>T (p.Ser1258Phe) rs148424362 0.00302
NM_022336.4(EDAR):c.319A>G (p.Met107Val) rs61761321 0.00302
NM_182961.4(SYNE1):c.21330C>T (p.Thr7110=) rs75469773 0.00302
NM_001267550.2(TTN):c.30426C>T (p.Asp10142=) rs147524531 0.00301
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln) rs141973925 0.00301
NM_000271.5(NPC1):c.540C>T (p.Asp180=) rs143656971 0.00300
NM_000506.5(F2):c.1857G>A (p.Gln619=) rs113406770 0.00300
NM_000760.4(CSF3R):c.447G>C (p.Glu149Asp) rs139332126 0.00300
NM_001048174.2(MUTYH):c.1103-27C>T rs3219490 0.00300
NM_001110219.3(GJB6):c.489G>A (p.Leu163=) rs35002004 0.00300
NM_022095.4(ZNF335):c.103G>T (p.Val35Leu) rs114356103 0.00300
NM_001101426.4(CRPPA):c.67G>T (p.Gly23Cys) rs187484645 0.00299
NM_002160.4(TNC):c.6499G>A (p.Val2167Ile) rs149752009 0.00299
NM_005881.4(BCKDK):c.181G>T (p.Ala61Ser) rs73530211 0.00299
NM_022124.6(CDH23):c.2878G>A (p.Glu960Lys) rs111033458 0.00299
NM_025077.4(TOE1):c.-45G>A rs2275602 0.00299
NM_032492.4(JAGN1):c.21G>C (p.Pro7=) rs138937423 0.00299
NM_052989.3(IFT122):c.321A>G (p.Gln107=) rs138793724 0.00299
NM_004525.3(LRP2):c.10937G>A (p.Arg3646His) rs142549310 0.00298
NM_018249.6(CDK5RAP2):c.*264G>A rs181859642 0.00298
NM_001378454.1(ALMS1):c.10464A>G (p.Val3488=) rs28730858 0.00297
NM_004565.3(PEX14):c.299-16C>T rs201545377 0.00297
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116 0.00297
NM_006996.3(SLC19A2):c.1080T>C (p.Thr360=) rs3737682 0.00297
NM_012448.4(STAT5B):c.285+12C>T rs138605388 0.00297
NM_032575.3(GLIS2):c.775+20C>T rs116598071 0.00297
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala) rs58806616 0.00296
NM_004525.3(LRP2):c.5538+10C>T rs115659204 0.00296
NM_025074.7(FRAS1):c.8832C>T (p.Ser2944=) rs114854941 0.00296
NM_000260.4(MYO7A):c.4698G>A (p.Thr1566=) rs200207753 0.00295
NM_000492.4(CFTR):c.4242+13A>G rs76179227 0.00295
NM_001267550.2(TTN):c.2765G>A (p.Arg922His) rs56046320 0.00295
NM_001382391.1(CSPP1):c.1798C>G (p.Gln600Glu) rs73693125 0.00295
NM_018389.5(SLC35C1):c.*1404G>A rs142012266 0.00295
NM_020964.3(EPG5):c.2063T>C (p.Phe688Ser) rs61978576 0.00295
NM_022124.6(CDH23):c.7722C>T (p.Tyr2574=) rs111033483 0.00295
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=) rs55921307 0.00295
NM_147127.5(EVC2):c.1954A>G (p.Ile652Val) rs144670544 0.00294
NM_000441.2(SLC26A4):c.849G>C (p.Met283Ile) rs146348818 0.00293
NM_001267550.2(TTN):c.23301C>T (p.Ser7767=) rs73038337 0.00293
NM_001267550.2(TTN):c.3409G>C (p.Gly1137Arg) rs72647870 0.00293
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) rs36024203 0.00293
NM_000271.5(NPC1):c.3477+4A>G rs114073738 0.00292
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361 0.00292
NM_015102.5(NPHP4):c.3559-19del rs201335783 0.00292
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=) rs144906721 0.00292
NM_178170.3(NEK8):c.2052G>A (p.Ser684=) rs145898152 0.00291
NM_001267550.2(TTN):c.69716-5C>G rs72646886 0.00290
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu) rs72648256 0.00290
NM_001351132.2(PEX5):c.1053G>A (p.Leu351=) rs61740909 0.00290
NM_001382391.1(CSPP1):c.484-15T>G rs199671558 0.00290
NM_001386140.1(MTTP):c.1731C>T (p.Ala577=) rs112506924 0.00290
NM_005236.3(ERCC4):c.2724C>T (p.Val908=) rs3136225 0.00290
NM_153676.4(USH1C):c.381G>T (p.Gly127=) rs41282942 0.00290
NM_182961.4(SYNE1):c.11541G>A (p.Met3847Ile) rs74463786 0.00290
NM_006005.3(WFS1):c.*358T>C rs71530919 0.00289
NM_020661.4(AICDA):c.74G>A (p.Arg25His) rs61730095 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_001267550.2(TTN):c.47315G>A (p.Arg15772Gln) rs72677233 0.00287
NM_001267550.2(TTN):c.7061G>A (p.Arg2354His) rs75031300 0.00287
NM_001614.5(ACTG1):c.714G>A (p.Lys238=) rs11549173 0.00287
NM_001614.5(ACTG1):c.780G>A (p.Ala260=) rs140846345 0.00287
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323 0.00287
NM_173551.5(ANKS6):c.658G>A (p.Ala220Thr) rs200419394 0.00287
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val) rs116483694 0.00287
NM_016356.5(DCDC2):c.1044C>T (p.Asp348=) rs143313706 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_001378454.1(ALMS1):c.1267G>A (p.Val423Ile) rs45630557 0.00285
NM_004525.3(LRP2):c.2520A>G (p.Leu840=) rs114780253 0.00285
NM_020779.4(WDR35):c.2262C>T (p.Asp754=) rs147206032 0.00285
NM_024649.5(BBS1):c.831-5C>T rs56177555 0.00285
NM_203486.3(DLL3):c.160C>A (p.Leu54Ile) rs200673897 0.00285
NM_001267550.2(TTN):c.38336T>C (p.Val12779Ala) rs2099130 0.00284
NM_005572.3(LMNA):c.-223C>T rs188625872 0.00284
NM_018389.5(SLC35C1):c.522C>T (p.Cys174=) rs141379070 0.00284
NM_018972.4(GDAP1):c.117+12C>G rs202059380 0.00284
NM_182961.4(SYNE1):c.12170C>T (p.Pro4057Leu) rs150179494 0.00284
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met) rs13381670 0.00283
NM_015102.5(NPHP4):c.3036C>T (p.Pro1012=) rs34265978 0.00283
NM_024989.4(PGAP1):c.906T>C (p.Leu302=) rs138525017 0.00283
NM_182961.4(SYNE1):c.2995G>A (p.Glu999Lys) rs148346599 0.00283
NM_000271.5(NPC1):c.1071G>A (p.Ser357=) rs61731964 0.00282
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) rs141641266 0.00282
NM_001042545.2(LTBP4):c.2451G>A (p.Glu817=) rs191216887 0.00282
NM_001161403.3(LIMS2):c.594C>T (p.Cys198=) rs74638847 0.00282
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His) rs181104321 0.00282
NM_017875.4(SLC25A38):c.382A>G (p.Met128Val) rs146940902 0.00282
NM_020964.3(EPG5):c.2257+10C>T rs202068698 0.00282
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135 0.00281
NM_014363.6(SACS):c.9846A>G (p.Pro3282=) rs61753111 0.00281
NM_182548.4(LHFPL5):c.*423T>C rs9368890 0.00281
NM_004525.3(LRP2):c.92C>T (p.Ala31Val) rs144829356 0.00280
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr) rs140811086 0.00280
NM_014321.4(ORC6):c.-47G>A rs144065502 0.00280
NM_016239.4(MYO15A):c.4888C>T (p.Arg1630Cys) rs138861831 0.00280
NM_016373.4(WWOX):c.816G>T (p.Leu272Phe) rs186745328 0.00280
NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254 0.00280
NM_000288.4(PEX7):c.526+14T>C rs73777756 0.00279
NM_001184.4(ATR):c.7504-16A>G rs111927479 0.00279
NM_001367624.2(ZNF469):c.7611G>C (p.Glu2537Asp) rs199519673 0.00279
NM_001367624.2(ZNF469):c.7935G>A (p.Glu2645=) rs189596398 0.00279
NM_016356.5(DCDC2):c.425+14C>A rs77544788 0.00279
NM_020458.4(TTC7A):c.1095G>T (p.Val365=) rs113844968 0.00279
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00278
NM_000254.3(MTR):c.250-7G>A rs184332230 0.00277
NM_001367624.2(ZNF469):c.9161A>C (p.Glu3054Ala) rs139565761 0.00277
NM_002160.4(TNC):c.4740C>T (p.Thr1580=) rs146504512 0.00277
NM_006397.3(RNASEH2A):c.412-6T>G rs192358167 0.00277
NM_052989.3(IFT122):c.3432C>T (p.Ile1144=) rs149884307 0.00277
NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg) rs78488552 0.00276
NM_001283009.2(RTEL1):c.301+7C>T rs200648296 0.00276
NM_001386140.1(MTTP):c.-6G>A rs41275707 0.00276
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu) rs34120922 0.00276
NM_182961.4(SYNE1):c.10281G>T (p.Thr3427=) rs147402839 0.00276
NM_182961.4(SYNE1):c.2177A>G (p.Glu726Gly) rs35297226 0.00276
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621 0.00275
NM_004525.3(LRP2):c.4924A>G (p.Ile1642Val) rs144737909 0.00275
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr) rs140963213 0.00275
NM_016373.4(WWOX):c.*3G>T rs140060332 0.00275
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser) rs187546086 0.00275
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val) rs145207584 0.00275
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln) rs148525155 0.00274
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val) rs72648994 0.00274
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu) rs72646840 0.00274
NM_002454.3(MTRR):c.1326C>T (p.Leu442=) rs144781389 0.00274
NM_006005.3(WFS1):c.2205C>T (p.Tyr735=) rs71530911 0.00274
NM_016373.4(WWOX):c.1134C>T (p.Asn378=) rs201088847 0.00274
NM_182961.4(SYNE1):c.13863G>A (p.Thr4621=) rs112266645 0.00274
NM_000414.4(HSD17B4):c.1059G>A (p.Ala353=) rs57972893 0.00273
NM_001267550.2(TTN):c.24652A>G (p.Ser8218Gly) rs72648980 0.00273
NM_020751.3(COG6):c.1693-7_1693-6del rs1491507046 0.00273
NM_000277.3(PAH):c.772C>T (p.Leu258=) rs75065106 0.00272
NM_001283009.2(RTEL1):c.3693G>A (p.Thr1231=) rs181080831 0.00272
NM_001329943.3(KIAA0586):c.4629G>A (p.Ser1543=) rs61745066 0.00272
NM_002109.6(HARS1):c.614G>A (p.Gly205Asp) rs147288996 0.00272
NM_015046.7(SETX):c.2113A>C (p.Ile705Leu) rs34781846 0.00272
NM_016938.5(EFEMP2):c.368-11G>A rs181514768 0.00272
NM_020458.4(TTC7A):c.2460C>T (p.Gly820=) rs58422168 0.00272
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg) rs150880478 0.00272
NM_000208.4(INSR):c.*3541C>T rs116953519 0.00271
NM_004937.3(CTNS):c.*1117G>A rs78833685 0.00271
NM_005422.4(TECTA):c.972G>C (p.Val324=) rs147790742 0.00271
NM_138694.4(PKHD1):c.6184C>T (p.Leu2062=) rs116156469 0.00271
NM_138694.4(PKHD1):c.6211A>C (p.Asn2071His) rs143832120 0.00271
NM_198999.3(SLC26A5):c.137T>C (p.Leu46Pro) rs141952919 0.00271
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe) rs142838522 0.00270
NM_147127.5(EVC2):c.3659+8T>C rs200119306 0.00270
NM_006005.3(WFS1):c.1674C>T (p.Arg558=) rs61735402 0.00269
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe) rs34226296 0.00268
NM_000441.2(SLC26A4):c.2139T>G (p.Ile713Met) rs143708308 0.00268
NM_012448.4(STAT5B):c.690C>T (p.Ala230=) rs555155085 0.00268
NM_182961.4(SYNE1):c.8400C>T (p.Leu2800=) rs114747836 0.00268
NM_001023570.4(IQCB1):c.588T>C (p.Ser196=) rs80015876 0.00267
NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr) rs146608896 0.00267
NM_001384140.1(PCDH15):c.1362C>T (p.Val454=) rs61735479 0.00267
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325 0.00267
NM_024753.5(TTC21B):c.3416T>C (p.Val1139Ala) rs149454830 0.00267
NM_032492.4(JAGN1):c.1A>G (p.Met1Val) rs143438463 0.00267
NM_001111.5(ADAR):c.2668+20A>C rs115805812 0.00266
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00266
NM_032237.5(POMK):c.714C>T (p.Ser238=) rs148949414 0.00266
NM_000254.3(MTR):c.1485G>A (p.Met495Ile) rs2229275 0.00265
NM_000414.4(HSD17B4):c.2060C>T (p.Thr687Ile) rs28943592 0.00265
NM_001267550.2(TTN):c.76113A>G (p.Glu25371=) rs140350441 0.00265
NM_001267550.2(TTN):c.970C>T (p.Pro324Ser) rs72647845 0.00265
NM_015102.5(NPHP4):c.1622C>T (p.Pro541Leu) rs145255635 0.00265
NM_032575.3(GLIS2):c.415G>A (p.Gly139Arg) rs147175353 0.00265
NM_201253.3(CRB1):c.1470C>T (p.Gly490=) rs35193230 0.00265
NM_001077365.2(POMT1):c.1126G>A (p.Gly376Arg) rs146869947 0.00264
NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg) rs72646823 0.00264
NM_001614.5(ACTG1):c.471C>T (p.Asp157=) rs11549222 0.00264
NM_016239.4(MYO15A):c.4779+9G>A rs183256997 0.00264
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile) rs17102066 0.00264
NM_018451.5(CENPJ):c.68A>G (p.Asn23Ser) rs116981543 0.00264
NM_173551.5(ANKS6):c.603C>T (p.His201=) rs137870160 0.00264
NM_001267550.2(TTN):c.70952T>G (p.Ile23651Ser) rs149075285 0.00263
NM_020779.4(WDR35):c.318T>C (p.Ile106=) rs115963122 0.00263
NM_001017420.3(ESCO2):c.764T>C (p.Phe255Ser) rs141631911 0.00262
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser) rs72648949 0.00262
NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala) rs77968867 0.00262
NM_001378454.1(ALMS1):c.2658A>G (p.Lys886=) rs80133984 0.00262
NM_003701.4(TNFSF11):c.80A>G (p.Glu27Gly) rs200788562 0.00262
NM_017755.6(NSUN2):c.1879G>A (p.Val627Ile) rs2303708 0.00262
NM_000254.3(MTR):c.2349C>T (p.Asp783=) rs150734119 0.00261
NM_001267550.2(TTN):c.5388T>C (p.Asp1796=) rs72647878 0.00261
NM_001267550.2(TTN):c.64762G>A (p.Gly21588Arg) rs181717727 0.00261
NM_001379286.1(ZNF423):c.3393C>T (p.Pro1131=) rs61755180 0.00261
NM_004560.4(ROR2):c.7C>T (p.Arg3Trp) rs539329891 0.00261
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala) rs146519878 0.00261
NM_139319.3(SLC17A8):c.858T>C (p.Tyr286=) rs148882860 0.00261
NM_000254.3(MTR):c.2473+8G>T rs144061765 0.00260
NM_006208.3(ENPP1):c.2124C>A (p.Phe708Leu) rs140521704 0.00260
NM_206933.4(USH2A):c.6236A>C (p.Lys2079Thr) rs147039836 0.00260
NM_000070.3(CAPN3):c.930T>C (p.Asp310=) rs150356488 0.00259
NM_000302.4(PLOD1):c.1902+13G>A rs199765551 0.00259
NM_002230.4(JUP):c.2025T>C (p.His675=) rs140670556 0.00259
NM_004937.3(CTNS):c.462-7C>A rs189632527 0.00259
NM_006846.4(SPINK5):c.1605G>T (p.Val535=) rs201831966 0.00259
NM_016219.5(MAN1B1):c.1433A>G (p.Lys478Arg) rs138658585 0.00259
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=) rs72646890 0.00258
NM_001367624.2(ZNF469):c.869C>T (p.Ala290Val) rs117501524 0.00258
NM_002230.4(JUP):c.1159-13C>A rs201627219 0.00258
NM_013382.7(POMT2):c.924-10C>T rs142122657 0.00258
NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser) rs41281310 0.00258
NM_152618.3(BBS12):c.1287T>C (p.Ser429=) rs17006094 0.00258
NM_006005.3(WFS1):c.*69C>T rs71530916 0.00257
NM_138694.4(PKHD1):c.1950G>A (p.Arg650=) rs143226202 0.00257
NM_001267550.2(TTN):c.84893G>A (p.Arg28298Gln) rs187270666 0.00255
NM_001267550.2(TTN):c.88708A>G (p.Ile29570Val) rs139506970 0.00255
NM_022336.4(EDAR):c.43G>A (p.Val15Ile) rs151195196 0.00254
NM_145861.4(EDARADD):c.393G>A (p.Pro131=) rs139996586 0.00254
NM_182961.4(SYNE1):c.17203-5C>T rs886044642 0.00254
NM_003839.4(TNFRSF11A):c.625G>A (p.Val209Ile) rs146793660 0.00253
NM_018136.5(ASPM):c.9996T>C (p.Thr3332=) rs139927527 0.00253
NM_000271.5(NPC1):c.463+19A>G rs117512587 0.00252
NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr) rs72646882 0.00252
NM_001283009.2(RTEL1):c.3823-5C>G rs141522376 0.00252
NM_020779.4(WDR35):c.2964+12C>T rs113663112 0.00252
NM_001267550.2(TTN):c.96501T>C (p.Ser32167=) rs139223781 0.00251
NM_001267550.2(TTN):c.97490T>C (p.Ile32497Thr) rs55660660 0.00251
NM_014053.4(FLVCR1):c.937G>A (p.Asp313Asn) rs139175550 0.00251
NM_000123.4(ERCC5):c.3239G>A (p.Gly1080Glu) rs4150388 0.00250
NM_000141.5(FGFR2):c.17G>C (p.Arg6Pro) rs3750819 0.00250
NM_000277.3(PAH):c.1315+20C>T rs190655222 0.00250
NM_001267550.2(TTN):c.83740A>G (p.Thr27914Ala) rs188370772 0.00250
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly) rs112089123 0.00250
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile) rs150576537 0.00250
NM_021252.5(RAB18):c.*2529G>A rs145293804 0.00250
NM_031885.5(BBS2):c.1422G>A (p.Ser474=) rs117033008 0.00250
NM_000260.4(MYO7A):c.1554+8G>A rs111033227 0.00249
NM_001145809.2(MYH14):c.1034C>G (p.Ser345Cys) rs35315400 0.00249
NM_004393.6(DAG1):c.1233G>A (p.Val411=) rs145765079 0.00249
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699 0.00249
NM_016356.5(DCDC2):c.855A>G (p.Ser285=) rs141519329 0.00249
NM_021942.6(TRAPPC11):c.3273A>G (p.Pro1091=) rs113269326 0.00249
NM_000023.4(SGCA):c.-8G>A rs149296410 0.00248
NM_000243.3(MEFV):c.1587+18C>T rs11466030 0.00248
NM_001145809.2(MYH14):c.5529C>T (p.Ser1843=) rs12610591 0.00248
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn) rs111033369 0.00248
NM_025132.4(WDR19):c.3183+9G>A rs138318063 0.00248
NM_000019.4(ACAT1):c.-28T>A rs36216231 0.00247
NM_001171.6(ABCC6):c.1248C>T (p.Asp416=) rs143487365 0.00247
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=) rs72650077 0.00247
NM_002180.3(IGHMBP2):c.2091G>A (p.Pro697=) rs113615425 0.00247
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186 0.00247
NM_020964.3(EPG5):c.740C>T (p.Pro247Leu) rs140494095 0.00247
NM_201384.3(PLEC):c.1956C>T (p.Thr652=) rs201835507 0.00247
NM_206933.4(USH2A):c.12608A>G (p.Gln4203Arg) rs148556640 0.00247
NM_004525.3(LRP2):c.2079C>T (p.Phe693=) rs145709922 0.00246
NM_025132.4(WDR19):c.2142+12G>A rs149621476 0.00246
NM_206933.4(USH2A):c.11191G>C (p.Glu3731Gln) rs150264392 0.00246
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141 0.00245
NM_000553.6(WRN):c.970A>G (p.Thr324Ala) rs1800390 0.00245
NM_001127671.2(LIFR):c.2447A>G (p.Asp816Gly) rs74856317 0.00245
NM_001171.6(ABCC6):c.1284C>T (p.Asn428=) rs57499497 0.00245
NM_001378454.1(ALMS1):c.2730C>T (p.His910=) rs189923349 0.00245
NM_001378454.1(ALMS1):c.9822C>G (p.Thr3274=) rs201446579 0.00245
NM_031471.6(FERMT3):c.249C>T (p.Tyr83=) rs137865691 0.00245
NM_206933.4(USH2A):c.13404A>G (p.Arg4468=) rs146994147 0.00245
NM_001367624.2(ZNF469):c.8694C>T (p.Gly2898=) rs114884145 0.00244
NM_000123.4(ERCC5):c.2100C>A (p.Leu700=) rs2228959 0.00243
NM_000211.5(ITGB2):c.147+9C>T rs199948899 0.00243
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260 0.00243
NM_033028.5(BBS4):c.332+27dup rs558055315 0.00243
NM_001382391.1(CSPP1):c.3109+18C>T rs139599638 0.00242
NM_198428.3(BBS9):c.2632+9C>A rs148654647 0.00242
NM_000543.5(SMPD1):c.441G>A (p.Val147=) rs148944108 0.00241
NM_006846.4(SPINK5):c.1302+16C>T rs112708641 0.00241
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459 0.00241
NM_000057.4(BLM):c.2075-14T>C rs28385026 0.00240
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=) rs181573957 0.00240
NM_000553.6(WRN):c.1981+11A>G rs189999761 0.00240
NM_001267550.2(TTN):c.26682G>A (p.Pro8894=) rs142812510 0.00240
NM_022168.4(IFIH1):c.2946C>T (p.Leu982=) rs74162089 0.00240
NM_016122.3(CEP83):c.1203C>T (p.Leu401=) rs189675715 0.00239
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys) rs72629785 0.00238
NM_001267550.2(TTN):c.84461C>T (p.Pro28154Leu) rs200350579 0.00238
NM_020964.3(EPG5):c.4629G>A (p.Leu1543=) rs182255496 0.00238
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser) rs143777403 0.00238
NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr) rs139468837 0.00237
NM_182961.4(SYNE1):c.18185C>T (p.Ser6062Leu) rs139790539 0.00237
NM_000211.5(ITGB2):c.525C>T (p.Thr175=) rs200134130 0.00236
NM_001386140.1(MTTP):c.2673C>T (p.Ser891=) rs115222767 0.00236
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939 0.00236
NM_000211.5(ITGB2):c.807C>T (p.Phe269=) rs142381225 0.00235
NM_000254.3(MTR):c.3079C>T (p.Arg1027Trp) rs116836001 0.00235
NM_001267550.2(TTN):c.101064T>C (p.Asp33688=) rs368168812 0.00235
NM_001267550.2(TTN):c.106857C>T (p.Asn35619=) rs116604145 0.00235
NM_002292.4(LAMB2):c.2307C>T (p.Leu769=) rs147076626 0.00235
NM_020661.4(AICDA):c.428-18C>T rs201393772 0.00235
NM_024753.5(TTC21B):c.1846C>T (p.Arg616Cys) rs139441507 0.00235
NM_031471.6(FERMT3):c.736G>A (p.Ala246Thr) rs150869428 0.00235
NM_152617.4(RNF168):c.508G>A (p.Glu170Lys) rs114025031 0.00235
NM_201384.3(PLEC):c.602+12C>T rs184306103 0.00235
NM_000441.2(SLC26A4):c.1545-5T>G rs77944876 0.00234
NM_001267550.2(TTN):c.96108G>A (p.Val32036=) rs372773283 0.00234
NM_004525.3(LRP2):c.5390A>G (p.Asn1797Ser) rs138070797 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_014797.3(ZBTB24):c.1672G>A (p.Asp558Asn) rs61731736 0.00233
NM_015602.4(TOR1AIP1):c.70C>G (p.Pro24Ala) rs146976883 0.00233
NM_020631.6(PLEKHG5):c.532G>A (p.Gly178Arg) rs143484278 0.00233
NM_020779.4(WDR35):c.1591C>G (p.Leu531Val) rs148242353 0.00233
NM_139343.3(BIN1):c.1131+18C>T rs191760397 0.00233
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901 0.00232
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile) rs41280110 0.00232
NM_001367624.2(ZNF469):c.6800G>A (p.Arg2267Gln) rs181887079 0.00232
NM_004560.4(ROR2):c.1686C>T (p.His562=) rs56048121 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_145309.6(LRRC51):c.255C>T (p.Asp85=) rs145851613 0.00232
NM_001382391.1(CSPP1):c.3165T>C (p.Asp1055=) rs10112748 0.00231
NM_013335.4(GMPPA):c.190C>T (p.Pro64Ser) rs34873891 0.00230
NM_016219.5(MAN1B1):c.744T>C (p.Tyr248=) rs138435910 0.00230
NM_021628.3(ALOXE3):c.709T>A (p.Leu237Met) rs121434235 0.00230
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=) rs139815340 0.00230
NM_000277.3(PAH):c.441+20G>A rs111842675 0.00229
NM_001085429.2(TMEM213):c.-23G>A rs199654929 0.00229
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) rs72677231 0.00229
NM_001367624.2(ZNF469):c.6036G>A (p.Thr2012=) rs149961653 0.00229
NM_032193.4(RNASEH2C):c.417C>G (p.Gly139=) rs147021687 0.00229
NM_080628.3(TLDC2):c.*18-1G>T rs138927042 0.00229
NM_130837.3(OPA1):c.43C>A (p.Gln15Lys) rs75414918 0.00229
NM_173551.5(ANKS6):c.1565A>G (p.Asn522Ser) rs148071928 0.00229
NM_001267550.2(TTN):c.70815G>A (p.Val23605=) rs55847238 0.00228
NM_006118.4(HAX1):c.207A>T (p.Pro69=) rs142150013 0.00228
NM_022089.4(ATP13A2):c.3342C>T (p.Thr1114=) rs115985012 0.00228
NM_022168.4(IFIH1):c.1481G>T (p.Gly494Val) rs147000317 0.00228
NM_001145809.2(MYH14):c.1329+15C>T rs200176028 0.00227
NM_022089.4(ATP13A2):c.1195+9C>T rs117758987 0.00227
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg) rs142938748 0.00227
NM_182961.4(SYNE1):c.24297C>T (p.Ile8099=) rs142222560 0.00227
NM_000492.4(CFTR):c.3367+37G>A rs137854873 0.00226
NM_002160.4(TNC):c.945C>T (p.Cys315=) rs148465701 0.00226
NM_022124.6(CDH23):c.4068C>G (p.Thr1356=) rs143136329 0.00226
NM_032237.5(POMK):c.1006G>A (p.Asp336Asn) rs113361507 0.00226
NM_201384.3(PLEC):c.12642C>T (p.Ile4214=) rs111227648 0.00226
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=) rs75897848 0.00225
NM_001267550.2(TTN):c.101245G>A (p.Val33749Met) rs201554140 0.00225
NM_001366722.1(GRIP1):c.*428C>T rs78619935 0.00225
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp) rs148040591 0.00225
NM_004525.3(LRP2):c.769+9G>A rs148452352 0.00225
NM_201384.3(PLEC):c.11994C>T (p.Pro3998=) rs113137721 0.00225
NM_000211.5(ITGB2):c.1635C>T (p.Asn545=) rs61747606 0.00224
NM_001267550.2(TTN):c.36509A>T (p.Glu12170Val) rs200840285 0.00224
NM_004153.4(ORC1):c.2427G>A (p.Glu809=) rs77077945 0.00224
NM_148919.4(PSMB8):c.501C>T (p.Leu167=) rs11540143 0.00224
NM_001145809.2(MYH14):c.*389C>G rs149455351 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_001367624.2(ZNF469):c.10327G>C (p.Gly3443Arg) rs532857190 0.00223
NM_006005.3(WFS1):c.2124C>T (p.Arg708=) rs61735401 0.00223
NM_014918.5(CHSY1):c.2088G>A (p.Thr696=) rs150245745 0.00223
NM_016938.5(EFEMP2):c.368-4G>A rs111550973 0.00223
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_000492.4(CFTR):c.1210-13del rs750294275 0.00222
NM_001077365.2(POMT1):c.1416C>T (p.Val472=) rs139687326 0.00222
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe) rs138576504 0.00222
NM_001367624.2(ZNF469):c.2803G>A (p.Glu935Lys) rs117995699 0.00222
NM_004565.3(PEX14):c.170-13C>T rs182967518 0.00222
NM_005219.5(DIAPH1):c.1407T>C (p.Ile469=) rs75860159 0.00222
NM_025132.4(WDR19):c.1915A>G (p.Ser639Gly) rs150649460 0.00222
NM_139343.3(BIN1):c.858-5C>T rs75328896 0.00222
NM_001083961.2(WDR62):c.269+19C>T rs140267028 0.00221
NM_001351132.2(PEX5):c.1521C>T (p.Ala507=) rs150761638 0.00221
NM_001379286.1(ZNF423):c.2133G>A (p.Ser711=) rs143934881 0.00221
NM_001044385.3(TMEM237):c.136+8G>A rs200618675 0.00220
NM_022168.4(IFIH1):c.2899-4C>T rs114541610 0.00220
NM_033056.4(PCDH15):c.5286T>A (p.Pro1762=) rs58461416 0.00220
NM_147127.5(EVC2):c.2151C>T (p.His717=) rs144584049 0.00220
NM_000019.4(ACAT1):c.60G>C (p.Arg20=) rs77311724 0.00219
NM_001267550.2(TTN):c.4199G>C (p.Ser1400Thr) rs138506461 0.00219
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) rs150399299 0.00219
NM_000466.3(PEX1):c.330C>G (p.Pro110=) rs71560821 0.00218
NM_001267550.2(TTN):c.57683G>A (p.Arg19228His) rs114711705 0.00218
NM_004525.3(LRP2):c.10647G>A (p.Pro3549=) rs17848184 0.00218
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575 0.00218
NM_020751.3(COG6):c.729C>T (p.Asp243=) rs117688574 0.00218
NM_201384.3(PLEC):c.6069C>G (p.Arg2023=) rs376365984 0.00218
NM_001267550.2(TTN):c.1398+18A>G rs72647849 0.00217
NM_001283009.2(RTEL1):c.2653-18C>T rs185974219 0.00217
NM_004525.3(LRP2):c.12379C>A (p.Arg4127Ser) rs148356370 0.00217
NM_206933.4(USH2A):c.5993G>A (p.Arg1998His) rs143624066 0.00217
NM_000466.3(PEX1):c.2442C>T (p.Phe814=) rs145430946 0.00216
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys) rs72646861 0.00216
NM_006208.3(ENPP1):c.*3879A>G rs144511581 0.00216
NM_001083961.2(WDR62):c.4312-5T>G rs182467995 0.00215
NM_001267550.2(TTN):c.32367G>A (p.Lys10789=) rs79232842 0.00215
NM_001267550.2(TTN):c.36347A>G (p.Glu12116Gly) rs200513156 0.00215
NM_001267550.2(TTN):c.70761G>T (p.Gly23587=) rs190149868 0.00215
NM_005236.3(ERCC4):c.1812-5T>C rs2020952 0.00215
NM_016219.5(MAN1B1):c.1386C>T (p.Ala462=) rs141112920 0.00215
NM_001267550.2(TTN):c.34505G>T (p.Gly11502Val) rs190209925 0.00214
NM_001283009.2(RTEL1):c.2414-6C>T rs376868750 0.00214
NM_001367624.2(ZNF469):c.8381C>T (p.Thr2794Met) rs202188220 0.00214
NM_006208.3(ENPP1):c.*4064T>C rs141760620 0.00214
NM_022168.4(IFIH1):c.2785G>A (p.Val929Ile) rs140562355 0.00214
NM_206933.4(USH2A):c.14960C>T (p.Ala4987Val) rs111033498 0.00214
NM_000057.4(BLM):c.254G>C (p.Arg85Thr) rs141503266 0.00213
NM_000414.4(HSD17B4):c.715-13C>T rs185869017 0.00213
NM_000466.3(PEX1):c.473-3C>T rs150576000 0.00213
NM_001044385.3(TMEM237):c.554-15G>A rs144051344 0.00213
NM_025074.7(FRAS1):c.4969+9A>C rs147019759 0.00213
NM_000334.4(SCN4A):c.1100+7G>A rs200770684 0.00212
NM_000492.4(CFTR):c.2620-15C>G rs139379077 0.00212
NM_001267550.2(TTN):c.1068G>A (p.Glu356=) rs144716589 0.00212
NM_021252.5(RAB18):c.*4131A>G rs540759797 0.00212
NM_052989.3(IFT122):c.2294A>C (p.Lys765Thr) rs146026277 0.00212
NM_130837.3(OPA1):c.321G>A (p.Ser107=) rs117888848 0.00212
NM_153240.5(NPHP3):c.2693+17A>G rs200046908 0.00212
NM_001044385.3(TMEM237):c.1134T>C (p.Tyr378=) rs77570029 0.00211
NM_001128178.3(NPHP1):c.133A>C (p.Ile45Leu) rs145479679 0.00211
NM_001184.4(ATR):c.816A>G (p.Ser272=) rs34685245 0.00211
NM_013382.7(POMT2):c.1332+13C>T rs142916824 0.00211
NM_001044385.3(TMEM237):c.396-14C>T rs74411816 0.00210
NM_001145809.2(MYH14):c.3079C>T (p.Leu1027=) rs113152264 0.00210
NM_005866.4(SIGMAR1):c.240G>A (p.Gln80=) rs10972178 0.00210
NM_014956.5(CEP164):c.3225C>T (p.Thr1075=) rs144421639 0.00210
NM_016219.5(MAN1B1):c.1710G>A (p.Glu570=) rs144271949 0.00210
NM_022095.4(ZNF335):c.3820-11C>T rs191147826 0.00210
NM_001040167.2(LFNG):c.75C>T (p.Thr25=) rs767338996 0.00209
NM_001267550.2(TTN):c.54208A>C (p.Arg18070=) rs138240658 0.00209
NM_001351132.2(PEX5):c.604G>C (p.Val202Leu) rs149102738 0.00209
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_000553.6(WRN):c.4192-39T>C rs143460277 0.00208
NM_001267550.2(TTN):c.289G>A (p.Val97Met) rs185921345 0.00208
NM_001267550.2(TTN):c.73168A>G (p.Thr24390Ala) rs182491843 0.00208
NM_001367624.2(ZNF469):c.11568C>T (p.Arg3856=) rs367547260 0.00208
NM_001367624.2(ZNF469):c.8064C>T (p.Asp2688=) rs558108271 0.00208
NM_005866.4(SIGMAR1):c.6G>A (p.Gln2=) rs541251697 0.00208
NM_021252.5(RAB18):c.*3521C>T rs142174174 0.00208
NM_201253.3(CRB1):c.2306G>A (p.Arg769His) rs62636287 0.00208
NM_001283009.2(RTEL1):c.3423G>A (p.Pro1141=) rs41306796 0.00207
NM_001379286.1(ZNF423):c.2013G>A (p.Ala671=) rs143468235 0.00207
NM_005219.5(DIAPH1):c.1985G>A (p.Gly662Asp) rs200735096 0.00207
NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr) rs148369169 0.00207
NM_147127.5(EVC2):c.18C>T (p.Ser6=) rs556910528 0.00207
NM_000260.4(MYO7A):c.3086A>G (p.His1029Arg) rs60103800 0.00206
NM_001171.6(ABCC6):c.*38G>A rs59461468 0.00206
NM_001267550.2(TTN):c.87707-4G>T rs201770959 0.00206
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_002857.4(PEX19):c.261C>T (p.Phe87=) rs146644725 0.00206
NM_012414.4(RAB3GAP2):c.3966A>G (p.Lys1322=) rs150226729 0.00206
NM_015474.4(SAMHD1):c.237T>C (p.Pro79=) rs7271776 0.00206
NM_015474.4(SAMHD1):c.348+18T>G rs181987130 0.00206
NM_052989.3(IFT122):c.3129C>T (p.Arg1043=) rs76881473 0.00206
NM_001267550.2(TTN):c.9077A>T (p.Asn3026Ile) rs11900987 0.00205
NM_002700.3(POU4F3):c.378G>A (p.Thr126=) rs113137300 0.00205
NM_004525.3(LRP2):c.10170-15T>G rs144579935 0.00205
NM_006005.3(WFS1):c.854G>A (p.Arg285His) rs61735404 0.00205
NM_007254.4(PNKP):c.579G>A (p.Arg193=) rs145904995 0.00205
NM_016239.4(MYO15A):c.5287C>T (p.Arg1763Trp) rs200146361 0.00205
NM_147127.5(EVC2):c.2883A>C (p.Gly961=) rs149188988 0.00205
NM_153717.3(EVC):c.939+9C>T rs201282320 0.00205
NM_182961.4(SYNE1):c.3120T>A (p.Thr1040=) rs147176678 0.00205
NM_001329943.3(KIAA0586):c.974A>T (p.Glu325Val) rs144456198 0.00204
NM_001378454.1(ALMS1):c.3311G>A (p.Gly1104Asp) rs201074268 0.00204
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln) rs115346085 0.00204
NM_016122.3(CEP83):c.1582T>C (p.Leu528=) rs199593910 0.00204
NM_001267550.2(TTN):c.91937A>G (p.Asn30646Ser) rs72648245 0.00203
NM_016373.4(WWOX):c.1197G>A (p.Ala399=) rs376935572 0.00203
NM_022124.6(CDH23):c.6705C>T (p.Ile2235=) rs114827737 0.00203
NM_139343.3(BIN1):c.384G>A (p.Thr128=) rs61748158 0.00203
NM_000254.3(MTR):c.2474-18_2474-17del rs1491459998 0.00202
NM_001267550.2(TTN):c.5231C>T (p.Pro1744Leu) rs75686037 0.00202
NM_001329943.3(KIAA0586):c.3283A>C (p.Lys1095Gln) rs140565291 0.00202
NM_000211.5(ITGB2):c.162G>A (p.Pro54=) rs138303556 0.00201
NM_000243.3(MEFV):c.1173T>C (p.Asp391=) rs146077729 0.00201
NM_001267550.2(TTN):c.46693G>T (p.Ala15565Ser) rs145520397 0.00201
NM_014956.5(CEP164):c.2772C>G (p.Leu924=) rs117473319 0.00201
NM_020779.4(WDR35):c.1524+11C>A rs200213874 0.00201
NM_206933.4(USH2A):c.879T>G (p.Leu293=) rs3767698 0.00201
NM_001199107.2(TBC1D24):c.441C>T (p.Asp147=) rs149371169 0.00200
NM_001267550.2(TTN):c.69412+10G>C rs72646883 0.00200
NM_004700.4(KCNQ4):c.1292+12G>A rs200426006 0.00200
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His) rs183885357 0.00200
NM_020964.3(EPG5):c.2259C>T (p.Asp753=) rs142253896 0.00200
NM_201384.3(PLEC):c.5653G>A (p.Ala1885Thr) rs201070741 0.00200
NM_203486.3(DLL3):c.390G>A (p.Glu130=) rs113780398 0.00200
NM_001814.6(CTSC):c.1146C>T (p.His382=) rs45558734 0.00199
NM_173551.5(ANKS6):c.1740C>T (p.Asn580=) rs141868637 0.00199
NM_012448.4(STAT5B):c.375+17G>A rs148509105 0.00198
NM_025114.4(CEP290):c.251-11T>A rs200666995 0.00198
NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys) rs149522482 0.00198
NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys) rs200378865 0.00197
NM_001267550.2(TTN):c.37247C>T (p.Ser12416Leu) rs370765948 0.00197
NM_018081.2(WRAP53):c.-206G>A rs17551150 0.00197
NM_017739.4(POMGNT1):c.236-13T>C rs150578902 0.00196
NM_000070.3(CAPN3):c.2264-11C>T rs28364537 0.00195
NM_001329943.3(KIAA0586):c.4496-16C>T rs111487478 0.00195
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) rs73945001 0.00195
NM_001614.5(ACTG1):c.684C>T (p.Ala228=) rs143125497 0.00195
NM_004525.3(LRP2):c.12380G>A (p.Arg4127His) rs142934522 0.00195
NM_004525.3(LRP2):c.2513+14T>C rs201785482 0.00195
NM_022089.4(ATP13A2):c.2367C>T (p.Leu789=) rs140048110 0.00195
NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile) rs144930507 0.00194
NM_024649.5(BBS1):c.1719A>G (p.Gln573=) rs150553044 0.00194
NM_182961.4(SYNE1):c.23461-6A>C rs145098375 0.00194
NM_000211.5(ITGB2):c.1497G>A (p.Lys499=) rs61747615 0.00193
NM_000320.3(QDPR):c.630-17T>C rs201581320 0.00193
NM_000553.6(WRN):c.2983G>A (p.Ala995Thr) rs140768346 0.00193
NM_000760.4(CSF3R):c.108C>T (p.Val36=) rs3918011 0.00193
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln) rs72648969 0.00193
NM_001267550.2(TTN):c.98439G>A (p.Val32813=) rs368487246 0.00193
NM_002473.6(MYH9):c.3485+8C>T rs149559551 0.00193
NM_176824.3(BBS7):c.*250T>G rs80171619 0.00193
NC_000016.10:g.3256969G>A rs533772017 0.00192
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly) rs201167067 0.00192
NM_022168.4(IFIH1):c.427C>T (p.Leu143=) rs143902922 0.00192
NM_000180.4(GUCY2D):c.2917G>T (p.Val973Leu) rs181567056 0.00191
NM_000506.5(F2):c.1298+11G>C rs144587241 0.00191
NM_007259.5(VPS45):c.937-16G>A rs193195913 0.00191
NM_182961.4(SYNE1):c.4596C>T (p.Tyr1532=) rs138264334 0.00191
NM_201384.3(PLEC):c.7356C>T (p.Ile2452=) rs199958797 0.00191
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu) rs149287302 0.00190
NM_001127649.3(PEX26):c.325T>C (p.Tyr109His) rs45567240 0.00190
NM_002454.3(MTRR):c.739C>T (p.Pro247Ser) rs114053717 0.00190
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069 0.00190
NM_006642.5(SDCCAG8):c.1761G>A (p.Leu587=) rs149837444 0.00190
NM_024753.5(TTC21B):c.1676T>G (p.Val559Gly) rs149325238 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_000414.4(HSD17B4):c.281-7A>G rs35201279 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_020458.4(TTC7A):c.1617G>A (p.Ser539=) rs112085853 0.00189
NM_000466.3(PEX1):c.3810T>A (p.Ser1270Arg) rs139054881 0.00188
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser) rs191692293 0.00188
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser) rs116572520 0.00188
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) rs142317580 0.00188
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_012448.4(STAT5B):c.551-5T>C rs200299299 0.00188
NM_015102.5(NPHP4):c.2868C>T (p.Ala956=) rs138025088 0.00188
NM_015474.3(SAMHD1):c.-110T>C rs28372906 0.00188
NM_020779.4(WDR35):c.2566G>T (p.Val856Phe) rs149667250 0.00188
NM_031471.6(FERMT3):c.1404C>T (p.Ala468=) rs201501349 0.00188
NM_152384.3(BBS5):c.750C>T (p.Ile250=) rs76138485 0.00188
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 0.00188
NM_001161403.3(LIMS2):c.39C>T (p.Ala13=) rs143117627 0.00187
NM_001267550.2(TTN):c.85691A>T (p.Lys28564Ile) rs199859344 0.00187
NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val) rs35193202 0.00187
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276 0.00187
NM_052989.3(IFT122):c.273-331C>A rs116196975 0.00187
NM_152384.3(BBS5):c.584A>G (p.Asp195Gly) rs143191074 0.00187
NM_000329.3(RPE65):c.978G>T (p.Val326=) rs61752907 0.00186
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys) rs117664682 0.00186
NM_005422.4(TECTA):c.1436C>T (p.Pro479Leu) rs35107075 0.00186
NM_001267550.2(TTN):c.81539T>C (p.Ile27180Thr) rs182126530 0.00185
NM_018718.3(CEP41):c.*655C>T rs141441037 0.00185
NM_018718.3(CEP41):c.575-12T>C rs186638258 0.00185
NR_003051.3(RMRP):n.-3C>T rs138660393 0.00185
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile) rs149131555 0.00184
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_001329943.3(KIAA0586):c.698G>A (p.Arg233Lys) rs193056942 0.00184
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) rs55999987 0.00184
NM_000492.4(CFTR):c.1365G>A (p.Ala455=) rs79074685 0.00183
NM_001083961.2(WDR62):c.4338C>T (p.Thr1446=) rs149289227 0.00183
NM_001382391.1(CSPP1):c.965A>G (p.His322Arg) rs141389465 0.00183
NM_004525.3(LRP2):c.10233C>T (p.Phe3411=) rs139363553 0.00183
NM_020631.6(PLEKHG5):c.495G>A (p.Lys165=) rs150772386 0.00183
NM_213599.3(ANO5):c.1095A>G (p.Leu365=) rs35804601 0.00183
NM_000019.4(ACAT1):c.238+17C>T rs199918672 0.00182
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr) rs202215735 0.00182
NM_015311.3(OBSL1):c.375G>A (p.Glu125=) rs374656370 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_001128178.3(NPHP1):c.1270-4C>T rs151204566 0.00181
NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn) rs184740744 0.00181
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly) rs141093638 0.00181
NM_032237.5(POMK):c.902T>C (p.Met301Thr) rs33920561 0.00181
NM_001081.4(CUBN):c.7706-4T>C rs374979108 0.00180
NM_012233.3(RAB3GAP1):c.*404C>T rs149483456 0.00180
NM_201384.3(PLEC):c.2544G>A (p.Glu848=) rs199938048 0.00180
NM_001127453.2(GSDME):c.658G>A (p.Gly220Ser) rs140666247 0.00179
NM_004565.3(PEX14):c.825G>A (p.Ser275=) rs143412169 0.00179
NM_021942.6(TRAPPC11):c.204+17G>A rs200658266 0.00179
NM_024753.5(TTC21B):c.262+16G>A rs192525886 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_001379286.1(ZNF423):c.312C>T (p.Asp104=) rs117266679 0.00178
NM_014918.5(CHSY1):c.39G>A (p.Leu13=) rs764100516 0.00178
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn) rs150673589 0.00178
NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=) rs2234473 0.00178
NM_018319.4(TDP1):c.1165G>A (p.Ala389Thr) rs138044459 0.00178
NM_020964.3(EPG5):c.1571+7G>A rs202014798 0.00178
NM_031471.6(FERMT3):c.1317G>A (p.Gln439=) rs72920390 0.00178
NM_032193.4(RNASEH2C):c.468+13G>A rs182000627 0.00178
NM_138694.4(PKHD1):c.5100C>T (p.Thr1700=) rs143717242 0.00178
NM_001267550.2(TTN):c.29963-13A>G rs72650008 0.00177
NM_014425.5(INVS):c.3017-5T>G rs201018893 0.00177
NM_020458.4(TTC7A):c.2211G>A (p.Ala737=) rs142959785 0.00177
NM_001083961.2(WDR62):c.3786C>T (p.Gly1262=) rs148415080 0.00176
NM_001283009.2(RTEL1):c.2444G>T (p.Ser815Ile) rs150461578 0.00176
NM_001614.5(ACTG1):c.985-5T>C rs370546734 0.00176
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=) rs199714102 0.00175
NM_006736.6(DNAJB2):c.298G>A (p.Glu100Lys) rs139406455 0.00175
NM_014918.5(CHSY1):c.1176C>T (p.Pro392=) rs147287474 0.00175
NM_148919.4(PSMB8):c.732C>T (p.Gly244=) rs78909544 0.00175
NM_002160.4(TNC):c.1322A>G (p.Asn441Ser) rs142220270 0.00174
NM_004560.4(ROR2):c.2083G>A (p.Gly695Arg) rs34431454 0.00174
NM_201384.3(PLEC):c.3171G>A (p.Ser1057=) rs371271326 0.00174
NM_001382391.1(CSPP1):c.3285C>T (p.Pro1095=) rs201008264 0.00173
NM_002292.4(LAMB2):c.5166A>G (p.Gln1722=) rs114485284 0.00173
NM_004086.3(COCH):c.1026C>T (p.Tyr342=) rs28362777 0.00173
NM_015102.5(NPHP4):c.810+14A>C rs201977545 0.00173
NM_020964.3(EPG5):c.7495A>G (p.Met2499Val) rs191244915 0.00173
NM_148919.4(PSMB8):c.192C>T (p.Asn64=) rs79482999 0.00173
NM_182961.4(SYNE1):c.20646G>A (p.Ser6882=) rs138628147 0.00173
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918 0.00172
NM_000370.3(TTPA):c.24C>G (p.Pro8=) rs140010311 0.00172
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr) rs189966800 0.00172
NM_001379286.1(ZNF423):c.1326G>A (p.Ala442=) rs16947743 0.00172
NM_207361.6(FREM2):c.4686T>C (p.Asp1562=) rs17058435 0.00172
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202 0.00171
NM_020661.4(AICDA):c.369C>T (p.Pro123=) rs199980715 0.00171
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195 0.00171
NM_182961.4(SYNE1):c.20292T>C (p.Asp6764=) rs73619386 0.00171
NM_201384.3(PLEC):c.1042-4A>G rs112966803 0.00171
NM_000302.4(PLOD1):c.1164C>T (p.Thr388=) rs74949176 0.00170
NM_001083961.2(WDR62):c.2016C>T (p.Asp672=) rs114968951 0.00170
NM_001267550.2(TTN):c.104365G>A (p.Glu34789Lys) rs190565627 0.00170
NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser) rs61733140 0.00170
NM_153676.4(USH1C):c.674+4G>A rs202095395 0.00170
NM_000553.6(WRN):c.1717A>G (p.Thr573Ala) rs150148567 0.00169
NM_006996.3(SLC19A2):c.1322T>C (p.Ile441Thr) rs17847484 0.00169
NM_020458.4(TTC7A):c.2061G>C (p.Glu687Asp) rs147410586 0.00169
NM_025074.7(FRAS1):c.7652A>G (p.Gln2551Arg) rs183712679 0.00169
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=) rs373924055 0.00168
NM_021942.6(TRAPPC11):c.3019G>A (p.Val1007Met) rs79804817 0.00168
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445 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_001139.3(ALOX12B):c.1533-11C>G rs199760981 0.00167
NM_002292.4(LAMB2):c.510C>T (p.Arg170=) rs149856537 0.00167
NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr) rs145467740 0.00166
NM_001077365.2(POMT1):c.2115G>A (p.Ser705=) rs76092524 0.00166
NM_001367624.2(ZNF469):c.751C>A (p.Pro251Thr) rs540655479 0.00166
NM_001379286.1(ZNF423):c.87C>T (p.Ser29=) rs116537749 0.00166
NM_031885.5(BBS2):c.1081-18G>T rs142558653 0.00166
NM_020631.6(PLEKHG5):c.592-14C>T rs554879611 0.00165
NM_025132.4(WDR19):c.2361C>T (p.Phe787=) rs200133722 0.00165
NM_147127.5(EVC2):c.2487G>A (p.Glu829=) rs16837501 0.00165
NM_000254.3(MTR):c.685G>A (p.Val229Ile) rs61736441 0.00164
NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser) rs141625803 0.00164
NM_001614.5(ACTG1):c.803-6C>T rs199600452 0.00164
NM_006642.5(SDCCAG8):c.929+18C>T rs200895248 0.00164
NM_000057.4(BLM):c.2268A>G (p.Lys756=) rs146013879 0.00163
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) rs191125006 0.00163
NM_001199107.2(TBC1D24):c.1142+17C>A rs199499346 0.00163
NM_001267550.2(TTN):c.46880C>T (p.Ala15627Val) rs115813214 0.00163
NM_006208.3(ENPP1):c.313+11_313+15del rs771304080 0.00163
NM_006397.3(RNASEH2A):c.339G>T (p.Leu113=) rs145176499 0.00163
NM_022089.4(ATP13A2):c.3406-14C>T rs139088170 0.00163
NM_138694.4(PKHD1):c.8951-13C>T rs112249812 0.00163
NM_000254.3(MTR):c.2474-16A>T rs539082928 0.00162
NM_001378454.1(ALMS1):c.11601C>T (p.Phe3867=) rs80009262 0.00162
NM_022168.4(IFIH1):c.1723A>G (p.Thr575Ala) rs138057665 0.00162
NM_147127.5(EVC2):c.1471-6C>T rs115466792 0.00162
NM_020779.4(WDR35):c.3279G>C (p.Gln1093His) rs148436608 0.00161
NM_201384.3(PLEC):c.9558A>G (p.Thr3186=) rs201102719 0.00161
NM_001199107.2(TBC1D24):c.1002C>T (p.Ala334=) rs184389316 0.00160
NM_018109.4(MTPAP):c.157+20C>T rs191816760 0.00160
NM_022098.4(XPNPEP3):c.1056-9C>T rs116758113 0.00160
NM_201384.3(PLEC):c.10497C>T (p.Asn3499=) rs113113366 0.00160
NM_000466.3(PEX1):c.1588-20A>G rs201298666 0.00159
NM_001081.4(CUBN):c.910G>A (p.Glu304Lys) rs78201384 0.00159
NM_001267550.2(TTN):c.14004C>T (p.Thr4668=) rs201200682 0.00159
NM_002160.4(TNC):c.628G>A (p.Gly210Ser) rs144032672 0.00159
NM_002292.4(LAMB2):c.4163G>A (p.Arg1388Gln) rs146522641 0.00159
NM_015046.7(SETX):c.5781+10G>A rs537414669 0.00159
NM_015910.7(WDPCP):c.499+20A>G rs186575824 0.00159
NM_030943.4(AMN):c.1137G>T (p.Ala379=) rs533317064 0.00159
NM_032193.4(RNASEH2C):c.468G>T (p.Ala156=) rs61736590 0.00159
NM_201384.3(PLEC):c.2458-8C>T rs201818691 0.00159
NM_000254.3(MTR):c.764+16T>C rs138222686 0.00158
NM_000760.4(CSF3R):c.1689C>A (p.Thr563=) rs113047241 0.00158
NM_001145809.2(MYH14):c.4685G>A (p.Arg1562Gln) rs140118363 0.00158
NM_001367624.2(ZNF469):c.8076G>A (p.Pro2692=) rs149200506 0.00158
NM_001378454.1(ALMS1):c.9914A>G (p.Asn3305Ser) rs142022233 0.00158
NM_005708.5(GPC6):c.*4547G>T rs190534645 0.00158
NM_013382.7(POMT2):c.1881G>A (p.Ala627=) rs146588608 0.00158
NM_014425.5(INVS):c.2193C>T (p.Gly731=) rs148758887 0.00158
NM_020631.6(PLEKHG5):c.1896C>T (p.Leu632=) rs61732221 0.00158
NM_138694.4(PKHD1):c.7942G>A (p.Gly2648Ser) rs139555370 0.00158
NM_201384.3(PLEC):c.3210G>A (p.Thr1070=) rs375699173 0.00158
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His) rs730254 0.00158
NM_000023.4(SGCA):c.158-11G>A rs140261054 0.00157
NM_000466.3(PEX1):c.130-9T>C rs377337949 0.00157
NM_002485.5(NBN):c.1398-19C>T rs201495716 0.00157
NM_201384.3(PLEC):c.6507G>A (p.Lys2169=) rs199866902 0.00157
NM_000553.6(WRN):c.355+4G>C rs145764920 0.00156
NM_001267550.2(TTN):c.30598+15C>T rs79685525 0.00156
NM_020964.3(EPG5):c.780A>G (p.Leu260=) rs186213665 0.00156
NM_032575.3(GLIS2):c.1011G>A (p.Pro337=) rs200814551 0.00156
NM_152618.3(BBS12):c.105A>T (p.Ser35=) rs35159397 0.00156
NM_000083.3(CLCN1):c.651C>T (p.Val217=) rs144109732 0.00155
NM_000466.3(PEX1):c.1011G>A (p.Lys337=) rs142018583 0.00155
NM_016239.4(MYO15A):c.4623G>A (p.Thr1541=) rs926074 0.00155
NM_022098.4(XPNPEP3):c.1477C>G (p.Pro493Ala) rs146023695 0.00155
NM_000760.4(CSF3R):c.2334G>A (p.Ala778=) rs116118817 0.00154
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met) rs3219496 0.00154
NM_001267550.2(TTN):c.36676A>G (p.Lys12226Glu) rs200815663 0.00154
NM_001267550.2(TTN):c.58612A>G (p.Thr19538Ala) rs200017524 0.00154
NM_001379286.1(ZNF423):c.3336G>A (p.Val1112=) rs61739947 0.00154
NM_004525.3(LRP2):c.9147C>T (p.Phe3049=) rs146115458 0.00154
NM_001256317.3(TMPRSS3):c.933C>T (p.Ala311=) rs145235893 0.00153
NM_001267550.2(TTN):c.88297G>A (p.Asp29433Asn) rs189202799 0.00153
NM_201384.3(PLEC):c.9351C>T (p.Phe3117=) rs200895343 0.00153
NM_139343.3(BIN1):c.1540C>T (p.Arg514Cys) rs148422103 0.00152
NM_178170.3(NEK8):c.618+12C>T rs11649957 0.00152
NM_206933.4(USH2A):c.3364T>G (p.Ser1122Ala) rs148135241 0.00152
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=) rs181099904 0.00151
NM_001267550.2(TTN):c.98267C>T (p.Thr32756Ile) rs199805060 0.00151
NM_001378454.1(ALMS1):c.10079-11C>T rs368250605 0.00151
NM_016239.4(MYO15A):c.10573A>G (p.Ser3525Gly) rs182332665 0.00151
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=) rs151125564 0.00150
NM_000760.4(CSF3R):c.1458G>A (p.Thr486=) rs138289951 0.00150
NM_001081.4(CUBN):c.6938A>T (p.Tyr2313Phe) rs140806389 0.00150
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218 0.00150
NM_004525.3(LRP2):c.9914G>A (p.Arg3305His) rs3213760 0.00150
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile) rs140679502 0.00150
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln) rs116952023 0.00150
NM_201384.3(PLEC):c.3543C>T (p.Val1181=) rs202185399 0.00150
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528 0.00149
NM_001384140.1(PCDH15):c.3018G>T (p.Val1006=) rs41307518 0.00149
NM_012414.4(RAB3GAP2):c.39C>T (p.Asp13=) rs145667920 0.00149
NM_147127.5(EVC2):c.2394G>A (p.Arg798=) rs147173201 0.00149
NM_147127.5(EVC2):c.2395G>C (p.Asp799His) rs143491078 0.00149
NM_201384.3(PLEC):c.7425+16C>T rs138961280 0.00149
NM_201384.3(PLEC):c.8625C>T (p.Pro2875=) rs183401234 0.00149
NM_000211.5(ITGB2):c.1658-19G>A rs200196087 0.00148
NM_000492.4(CFTR):c.1393-42G>A rs34906874 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_001083961.2(WDR62):c.3033G>A (p.Pro1011=) rs118175551 0.00148
NM_001134793.2(HYLS1):c.468A>G (p.Leu156=) rs138284572 0.00148
NM_013382.7(POMT2):c.1683T>C (p.Asn561=) rs146307965 0.00148
NM_016219.5(MAN1B1):c.1980C>T (p.Phe660=) rs140496149 0.00148
NM_022464.5(SIL1):c.1030-14G>A rs184154914 0.00148
NM_024989.4(PGAP1):c.1351-16A>G rs377329019 0.00148
NM_001161403.3(LIMS2):c.802+19T>C rs201305372 0.00147
NM_002454.3(MTRR):c.177C>G (p.Thr59=) rs142098262 0.00147
NM_001267550.2(TTN):c.18961A>G (p.Ile6321Val) rs145204073 0.00146
NM_001267550.2(TTN):c.73336C>T (p.Leu24446=) rs189768015 0.00146
NM_031471.6(FERMT3):c.527C>T (p.Ala176Val) rs113348354 0.00146
NM_147127.5(EVC2):c.3411C>T (p.Ala1137=) rs144532809 0.00146
NM_000208.4(INSR):c.2682+9C>G rs41398545 0.00145
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe) rs151073129 0.00145
NM_001267550.2(TTN):c.10104T>G (p.Val3368=) rs142460433 0.00145
NM_001267550.2(TTN):c.23232C>G (p.Asn7744Lys) rs72648972 0.00145
NM_001367624.2(ZNF469):c.3504C>T (p.Ser1168=) rs533300920 0.00145
NM_001692.4(ATP6V1B1):c.1320T>G (p.Ser440=) rs147250093 0.00145
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_002617.4(PEX10):c.495C>T (p.Phe165=) rs150344828 0.00145
NM_021252.5(RAB18):c.*3967T>C rs571495776 0.00145
NM_000543.5(SMPD1):c.1340+7C>T rs116480929 0.00144
NM_001077418.3(TMEM231):c.804C>T (p.Phe268=) rs149118721 0.00144
NM_001267550.2(TTN):c.85406C>G (p.Ser28469Cys) rs202040332 0.00144
NM_001283009.2(RTEL1):c.1605G>A (p.Glu535=) rs114292675 0.00144
NM_032492.4(JAGN1):c.90-20C>T rs187981807 0.00144
NM_194248.3(OTOF):c.5026C>T (p.Arg1676Cys) rs139767460 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_001130987.2(DYSF):c.6180C>T (p.Pro2060=) rs147263499 0.00143
NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser) rs200992277 0.00143
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196 0.00143
NM_020247.5(COQ8A):c.*230G>A rs117808661 0.00143
NM_031471.6(FERMT3):c.161-11G>A rs188768294 0.00143
NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln) rs111033480 0.00142
NM_025074.7(FRAS1):c.789+12T>G rs142206350 0.00142
NM_153240.5(NPHP3):c.449C>T (p.Ala150Val) rs142663818 0.00142
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.82489G>A (p.Gly27497Arg) rs201158906 0.00141
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe) rs144590904 0.00141
NM_001692.4(ATP6V1B1):c.*68C>T rs144725809 0.00141
NM_004937.3(CTNS):c.327C>T (p.Thr109=) rs150554216 0.00141
NM_015046.7(SETX):c.5548+19A>G rs201294921 0.00141
NM_015046.7(SETX):c.7101A>G (p.Gly2367=) rs79233884 0.00141
NM_020247.5(COQ8A):c.1914C>T (p.Ser638=) rs56043893 0.00141
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229 0.00140
NM_000466.3(PEX1):c.1797A>G (p.Gly599=) rs76986636 0.00140
NM_014425.5(INVS):c.913G>A (p.Val305Ile) rs116438342 0.00140
NM_015702.3(MMADHC):c.9+14C>T rs140075619 0.00140
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr) rs76249490 0.00140
NM_033064.5(ATCAY):c.*1653G>T rs543950349 0.00140
NM_001111.5(ADAR):c.2079+8G>A rs376867928 0.00139
NM_006208.3(ENPP1):c.*3594C>T rs140569538 0.00139
NM_016239.4(MYO15A):c.8269G>A (p.Val2757Met) rs140140417 0.00139
NM_173551.5(ANKS6):c.615C>T (p.Ala205=) rs145249233 0.00139
NM_000260.4(MYO7A):c.510G>A (p.Leu170=) rs34477144 0.00138
NM_000492.4(CFTR):c.4243-5C>T rs114402068 0.00138
NM_001143992.2(WRAP53):c.407C>G (p.Pro136Arg) rs34067256 0.00138
NM_182961.4(SYNE1):c.23713G>A (p.Glu7905Lys) rs148997223 0.00138
NM_201384.3(PLEC):c.9408C>T (p.Ala3136=) rs77006429 0.00138
NM_001039141.3(TRIOBP):c.6741G>A (p.Leu2247=) rs375013523 0.00137
NM_001267550.2(TTN):c.48460+8C>T rs2288565 0.00137
NM_001267550.2(TTN):c.72782G>A (p.Arg24261Gln) rs142874389 0.00137
NM_001379180.1(ESRRB):c.79A>G (p.Arg27Gly) rs143477571 0.00137
NM_002292.4(LAMB2):c.3645G>A (p.Ala1215=) rs13082063 0.00137
NM_000243.3(MEFV):c.1610+10G>T rs11466033 0.00136
NM_001146079.2(CLDN14):c.300C>T (p.Ile100=) rs113350364 0.00136
NM_020458.4(TTC7A):c.1348G>A (p.Val450Met) rs114276698 0.00136
NM_020631.6(PLEKHG5):c.260T>C (p.Ile87Thr) rs117505788 0.00136
NM_201384.3(PLEC):c.172A>G (p.Lys58Glu) rs199985628 0.00136
NM_000760.4(CSF3R):c.1410G>A (p.Ala470=) rs3917988 0.00135
NM_001042545.2(LTBP4):c.2909C>G (p.Pro970Arg) rs200667255 0.00135
NM_001098484.3(SLC4A4):c.1271G>A (p.Gly424Asp) rs148635969 0.00135
NM_001111.5(ADAR):c.1926T>C (p.His642=) rs150171059 0.00135
NM_001111.5(ADAR):c.2668+6T>C rs190881240 0.00135
NM_002180.3(IGHMBP2):c.-28C>A rs117368938 0.00135
NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys) rs141280063 0.00135
NM_032193.4(RNASEH2C):c.-10A>G rs77371161 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_000334.4(SCN4A):c.2623C>T (p.Pro875Ser) rs201148948 0.00134
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys) rs1800073 0.00134
NM_000553.6(WRN):c.2950T>A (p.Leu984Ile) rs146443310 0.00134
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=) rs371802557 0.00134
NM_001267550.2(TTN):c.8902+14T>A rs13388274 0.00134
NM_002860.4(ALDH18A1):c.1329C>T (p.Ile443=) rs117709404 0.00134
NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly) rs186504463 0.00134
NM_017433.5(MYO3A):c.4462A>G (p.Lys1488Glu) rs34204285 0.00134
NM_033028.5(BBS4):c.37C>T (p.Pro13Ser) rs151164191 0.00134
NM_182961.4(SYNE1):c.18574-13T>C rs148664724 0.00134
NM_182961.4(SYNE1):c.3027+17C>T rs375786325 0.00134
NM_194248.3(OTOF):c.367G>A (p.Gly123Ser) rs116314622 0.00134
NM_000553.6(WRN):c.144A>G (p.Glu48=) rs145959045 0.00133
NM_001267550.2(TTN):c.13202G>A (p.Arg4401Gln) rs200431386 0.00133
NM_001267550.2(TTN):c.16621+7A>T rs10200398 0.00133
NM_001267550.2(TTN):c.17183-9T>C rs141687561 0.00133
NM_002857.4(PEX19):c.*1471A>T rs2301299 0.00133
NM_002857.4(PEX19):c.346+14A>G rs77156017 0.00133
NM_020964.3(EPG5):c.4541C>T (p.Pro1514Leu) rs139209033 0.00133
NM_020964.3(EPG5):c.5229C>T (p.Phe1743=) rs76331338 0.00133
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492 0.00133
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) rs150550701 0.00133
NM_000553.6(WRN):c.3875C>A (p.Ser1292Tyr) rs142614369 0.00132
NM_001267550.2(TTN):c.58869A>G (p.Lys19623=) rs191066933 0.00132
NM_006846.4(SPINK5):c.1451G>A (p.Arg484Lys) rs190657753 0.00132
NM_024570.4(RNASEH2B):c.859G>T (p.Ala287Ser) rs144408326 0.00132
NM_000553.6(WRN):c.2937T>G (p.Ile979Met) rs147802438 0.00131
NM_001382391.1(CSPP1):c.3493C>T (p.Pro1165Ser) rs200161440 0.00131
NM_005529.7(HSPG2):c.204C>A (p.Asp68Glu) rs1869780 0.00131
NM_024989.4(PGAP1):c.649+11T>A rs181229301 0.00131
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_002180.3(IGHMBP2):c.132C>T (p.Gly44=) rs78807992 0.00130
NM_003839.4(TNFRSF11A):c.284-5C>T rs371545302 0.00130
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg) rs45527543 0.00130
NM_024685.4(BBS10):c.1245T>C (p.His415=) rs147241753 0.00130
NM_001267550.2(TTN):c.1137A>G (p.Arg379=) rs55972547 0.00129
NM_001267550.2(TTN):c.1938+10G>C rs190935632 0.00129
NM_001267550.2(TTN):c.32555-6T>C rs375742678 0.00129
NM_002860.4(ALDH18A1):c.*227A>G rs943341 0.00129
NM_004004.6(GJB2):c.608T>C (p.Ile203Thr) rs76838169 0.00129
NM_012448.4(STAT5B):c.376-15C>G rs201981865 0.00129
NM_015046.7(SETX):c.6936-11A>G rs146193654 0.00129
NM_024753.5(TTC21B):c.1867T>C (p.Leu623=) rs140107312 0.00129
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546 0.00129
NM_201384.3(PLEC):c.12876G>A (p.Val4292=) rs199509259 0.00129
NM_206933.4(USH2A):c.2167+17A>G rs181777364 0.00129
NM_000180.4(GUCY2D):c.1513C>T (p.Leu505=) rs146849545 0.00128
NM_001042545.2(LTBP4):c.858G>A (p.Gly286=) rs146234365 0.00128
NM_001111.5(ADAR):c.2886-11_2886-10del rs557801982 0.00128
NM_001267550.2(TTN):c.1002C>T (p.Thr334=) rs148094198 0.00128
NM_001267550.2(TTN):c.36285C>T (p.His12095=) rs201184203 0.00128
NM_001283009.2(RTEL1):c.2661C>T (p.Pro887=) rs3848671 0.00128
NM_001283009.2(RTEL1):c.3561G>A (p.Gln1187=) rs138074015 0.00128
NM_001329943.3(KIAA0586):c.4125A>G (p.Gln1375=) rs148016417 0.00128
NM_001614.5(ACTG1):c.18C>T (p.Ala6=) rs145211830 0.00128
NM_002180.3(IGHMBP2):c.2730C>G (p.Gly910=) rs139416105 0.00128
NM_004415.4(DSP):c.*39T>C rs145079869 0.00128
NM_006892.4(DNMT3B):c.1996+9C>T rs143448185 0.00128
NM_022089.4(ATP13A2):c.706-14C>T rs371532404 0.00128
NM_032575.3(GLIS2):c.1010C>T (p.Pro337Leu) rs140544340 0.00128
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=) rs115563233 0.00128
NM_000492.4(CFTR):c.4242+10T>C rs138642693 0.00127
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=) rs144557304 0.00127
NM_182961.4(SYNE1):c.21781C>A (p.Arg7261=) rs138032057 0.00127
NM_000287.4(PEX6):c.1480-5C>T rs376473597 0.00126
NM_000492.4(CFTR):c.3139+18C>T rs147945812 0.00126
NM_001134793.2(HYLS1):c.86A>C (p.His29Pro) rs200146258 0.00126
NM_022336.4(EDAR):c.1143C>T (p.Phe381=) rs143639120 0.00126
NM_000760.4(CSF3R):c.1577-12C>G rs200420429 0.00125
NM_001256317.3(TMPRSS3):c.231C>T (p.Tyr77=) rs139934512 0.00125
NM_001267550.2(TTN):c.37525G>A (p.Glu12509Lys) rs201797790 0.00125
NM_001267550.2(TTN):c.426C>T (p.Ala142=) rs56137037 0.00125
NM_001382391.1(CSPP1):c.1245+15C>T rs200874913 0.00125
NM_002160.4(TNC):c.61G>A (p.Glu21Lys) rs141126037 0.00125
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=) rs146417316 0.00125
NM_052989.3(IFT122):c.3462G>A (p.Leu1154=) rs150692598 0.00125
NM_138694.4(PKHD1):c.2348G>A (p.Arg783Gln) rs185941281 0.00125
NM_145861.4(EDARADD):c.120+7G>A rs149429886 0.00125
NM_000466.3(PEX1):c.3426C>T (p.Thr1142=) rs143220470 0.00124
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) rs146384562 0.00124
NM_001267550.2(TTN):c.10726A>G (p.Thr3576Ala) rs6433728 0.00124
NM_001267550.2(TTN):c.1398+16C>T rs144043280 0.00124
NM_014918.5(CHSY1):c.975C>T (p.Ser325=) rs142783588 0.00124
NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg) rs115488133 0.00124
NM_020779.4(WDR35):c.1755C>T (p.Val585=) rs146130105 0.00124
NM_001048174.2(MUTYH):c.-60C>T rs185172591 0.00123
NM_001101426.4(CRPPA):c.790-14T>C rs142414812 0.00123
NM_001267550.2(TTN):c.34453+12C>A rs74930148 0.00123
NM_020458.4(TTC7A):c.189C>G (p.Asp63Glu) rs112301354 0.00123
NM_000271.5(NPC1):c.612C>T (p.Thr204=) rs151084683 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_006432.5(NPC2):c.88G>A (p.Val30Met) rs151220873 0.00122
NM_153240.5(NPHP3):c.2883+13G>C rs112375565 0.00122
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944 0.00121
NM_000506.5(F2):c.1628G>T (p.Arg543Leu) rs143064939 0.00121
NM_001161403.3(LIMS2):c.661-16C>T rs192426117 0.00121
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520 0.00121
NM_001378454.1(ALMS1):c.11745C>T (p.Ser3915=) rs147831309 0.00121
NM_020779.4(WDR35):c.*2623T>C rs538967974 0.00121
NM_022464.5(SIL1):c.865-7C>T rs141796576 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_153717.3(EVC):c.89C>T (p.Pro30Leu) rs886044558 0.00121
NM_194248.3(OTOF):c.5418C>T (p.Ile1806=) rs116990436 0.00121
NM_000082.4(ERCC8):c.1080T>C (p.Ala360=) rs4647130 0.00120
NM_000525.4(KCNJ11):c.1089A>G (p.Ser363=) rs5214 0.00120
NM_001110219.3(GJB6):c.358G>A (p.Asp120Asn) rs193292569 0.00120
NM_002454.3(MTRR):c.144C>T (p.Thr48=) rs138612190 0.00120
NM_002454.3(MTRR):c.828G>A (p.Val276=) rs115289458 0.00120
NM_006642.5(SDCCAG8):c.279G>A (p.Pro93=) rs145877279 0.00120
NM_014780.4(CUL7):c.-300G>C rs80311039 0.00120
NM_015404.4(WHRN):c.1352G>A (p.Gly451Asp) rs117352600 0.00120
NM_153240.5(NPHP3):c.3093A>G (p.Glu1031=) rs112300370 0.00120
NM_201384.3(PLEC):c.9333G>A (p.Gly3111=) rs188739870 0.00120
NM_000211.5(ITGB2):c.2058C>G (p.Leu686=) rs117884186 0.00119
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00119
NM_001267550.2(TTN):c.26439C>T (p.Asn8813=) rs200088963 0.00119
NM_001378454.1(ALMS1):c.945T>C (p.Ser315=) rs183390773 0.00119
NM_002180.3(IGHMBP2):c.276C>T (p.Tyr92=) rs146217031 0.00119
NM_004525.3(LRP2):c.9033-9A>G rs143892351 0.00119
NM_020964.3(EPG5):c.6226-18T>G rs114958790 0.00119
NM_201384.3(PLEC):c.10260C>T (p.Pro3420=) rs62642463 0.00119
NM_000162.5(GCK):c.364-18A>G rs191255582 0.00118
NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter) rs11574410 0.00118
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr) rs187925021 0.00118
NM_006019.4(TCIRG1):c.412C>T (p.Pro138Ser) rs35354504 0.00118
NM_020751.3(COG6):c.1308T>G (p.Leu436=) rs61754105 0.00118
NM_033028.5(BBS4):c.208A>G (p.Ile70Val) rs142692981 0.00118
NM_206933.4(USH2A):c.6486-18G>A rs370809079 0.00118
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=) rs72648255 0.00117
NM_020458.4(TTC7A):c.1129C>G (p.Gln377Glu) rs117304542 0.00117
NM_201384.3(PLEC):c.12784G>A (p.Val4262Ile) rs142946078 0.00117
NM_002473.6(MYH9):c.2913G>A (p.Ala971=) rs200763055 0.00116
NM_003619.4(PRSS12):c.645A>G (p.Gly215=) rs140470579 0.00116
NM_015602.4(TOR1AIP1):c.576G>A (p.Arg192=) rs146164995 0.00116
NM_020779.4(WDR35):c.*2622A>G rs558837510 0.00116
NM_024989.4(PGAP1):c.1729-12G>A rs75342998 0.00116
NM_031471.6(FERMT3):c.921C>T (p.Ser307=) rs78713523 0.00116
NM_032237.5(POMK):c.618C>T (p.Asn206=) rs7005111 0.00116
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886 0.00115
NM_001039141.3(TRIOBP):c.634G>A (p.Gly212Ser) rs201794404 0.00115
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_002160.4(TNC):c.3711G>A (p.Gly1237=) rs139931208 0.00115
NM_138694.4(PKHD1):c.11130C>T (p.Ile3710=) rs146224907 0.00115
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385 0.00114
NM_001267550.2(TTN):c.98499C>T (p.Leu32833=) rs138968178 0.00114
NM_002485.5(NBN):c.1317A>G (p.Ile439Met) rs28538230 0.00114
NM_001044385.3(TMEM237):c.*564T>C rs141560423 0.00113
NM_001110219.3(GJB6):c.15G>A (p.Thr5=) rs150075979 0.00113
NM_001267550.2(TTN):c.33581-18T>C rs148392677 0.00113
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp) rs140640738 0.00113
NM_001267550.2(TTN):c.56970T>C (p.Pro18990=) rs372019333 0.00113
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His) rs149567378 0.00113
NM_001367624.2(ZNF469):c.2653C>G (p.Leu885Val) rs139653501 0.00113
NM_015102.5(NPHP4):c.1024C>T (p.Arg342Cys) rs190940697 0.00113
NM_015102.5(NPHP4):c.945G>A (p.Thr315=) rs115272639 0.00113
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys) rs116998555 0.00113
NM_031885.5(BBS2):c.865A>G (p.Ile289Val) rs150384293 0.00113
NM_138694.4(PKHD1):c.5358C>T (p.Ser1786=) rs78543922 0.00113
NM_173551.5(ANKS6):c.1008G>A (p.Thr336=) rs373872443 0.00113
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu) rs144636654 0.00112
NM_001283009.2(RTEL1):c.3175G>A (p.Ala1059Thr) rs115303435 0.00112
NM_133379.5(TTN):c.14492G>A (p.Cys4831Tyr) rs150615457 0.00112
NM_201384.3(PLEC):c.4556C>T (p.Ser1519Leu) rs182120395 0.00112
NM_206933.4(USH2A):c.2094C>T (p.Thr698=) rs141489104 0.00112
NM_000180.4(GUCY2D):c.2155C>T (p.Leu719=) rs151106252 0.00111
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122 0.00111
NM_001267550.2(TTN):c.13859G>A (p.Gly4620Asp) rs55857742 0.00111
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser) rs184412722 0.00111
NM_001267550.2(TTN):c.89994G>A (p.Ser29998=) rs142891278 0.00111
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496 0.00111
NM_004407.4(DMP1):c.600G>A (p.Gly200=) rs34682707 0.00111
NM_014918.5(CHSY1):c.534A>G (p.Gly178=) rs3743192 0.00111
NM_022168.4(IFIH1):c.1046A>G (p.Lys349Arg) rs72650664 0.00111
NM_024753.5(TTC21B):c.588T>G (p.Gly196=) rs144458105 0.00111
NM_031885.3(BBS2):c.-225C>T rs117744577 0.00111
NM_182961.4(SYNE1):c.9651+12G>A rs143173603 0.00111
NM_001267550.2(TTN):c.49371A>T (p.Leu16457=) rs146163169 0.00110
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr) rs55663050 0.00110
NM_145861.4(EDARADD):c.161-13T>C rs184596437 0.00110
NM_201384.3(PLEC):c.5391C>T (p.Arg1797=) rs551187778 0.00110
NM_001199107.2(TBC1D24):c.657G>A (p.Glu219=) rs587781187 0.00109
NM_001267550.2(TTN):c.107700A>G (p.Glu35900=) rs55832587 0.00109
NM_001267550.2(TTN):c.57648C>T (p.Ile19216=) rs55956577 0.00109
NM_003052.5(SLC34A1):c.260-4C>A rs200580283 0.00109
NM_004525.3(LRP2):c.391A>G (p.Arg131Gly) rs34592807 0.00109
NM_020631.6(PLEKHG5):c.1818C>T (p.Phe606=) rs149147021 0.00109
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys) rs200990647 0.00109
NM_173551.5(ANKS6):c.1533A>C (p.Ala511=) rs200743968 0.00109
NM_213599.3(ANO5):c.2521-7C>T rs201438159 0.00109
NM_000492.4(CFTR):c.2620-26A>G rs201716473 0.00108
NM_000553.6(WRN):c.1350+3A>G rs182813211 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_001267550.2(TTN):c.91565-13C>T rs200847757 0.00108
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr) rs148617456 0.00108
NM_001267550.2(TTN):c.95148C>T (p.Thr31716=) rs140663434 0.00108
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe) rs191484894 0.00108
NM_001351132.2(PEX5):c.471C>T (p.Ala157=) rs144331955 0.00108
NM_004393.6(DAG1):c.607A>T (p.Thr203Ser) rs200094365 0.00108
NM_004525.3(LRP2):c.5395-12C>G rs141206999 0.00108
NM_006721.4(ADK):c.1088G>A (p.Ter363=) rs148819558 0.00108
NM_014956.5(CEP164):c.3556C>T (p.Leu1186=) rs138861857 0.00108
NM_015311.3(OBSL1):c.96G>A (p.Lys32=) rs200451309 0.00108
NM_201384.3(PLEC):c.7101G>A (p.Thr2367=) rs202132558 0.00108
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly) rs139848756 0.00107
NM_001267550.2(TTN):c.12733A>C (p.Asn4245His) rs199652066 0.00107
NM_001267550.2(TTN):c.17300G>A (p.Ser5767Asn) rs200692495 0.00107
NM_001267550.2(TTN):c.41166C>T (p.Asp13722=) rs143049740 0.00107
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met) rs150661999 0.00107
NM_001614.5(ACTG1):c.72C>T (p.Asp24=) rs139517777 0.00107
NM_004565.3(PEX14):c.36+8G>A rs200154696 0.00107
NM_020631.6(PLEKHG5):c.87G>A (p.Pro29=) rs140892576 0.00107
NM_025114.4(CEP290):c.1716A>G (p.Leu572=) rs372349042 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_206933.4(USH2A):c.5624A>G (p.Asn1875Ser) rs141609561 0.00107
NM_000254.3(MTR):c.3477C>T (p.Asp1159=) rs117061132 0.00106
NM_000337.6(SGCD):c.144G>C (p.Val48=) rs372152495 0.00106
NM_001122769.3(LCA5):c.1579A>G (p.Ile527Val) rs75319738 0.00106
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His) rs55669553 0.00106
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His) rs149855485 0.00106
NM_001267550.2(TTN):c.41958A>G (p.Ala13986=) rs186699871 0.00106
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr) rs146181477 0.00106
NM_001283009.2(RTEL1):c.395+12G>A rs201572070 0.00106
NM_001367624.2(ZNF469):c.10656G>A (p.Pro3552=) rs191234581 0.00106
NM_001614.5(ACTG1):c.1029C>T (p.Gly343=) rs143659814 0.00106
NM_001614.5(ACTG1):c.531T>C (p.Arg177=) rs143851458 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_178170.3(NEK8):c.1489G>C (p.Ala497Pro) rs146326420 0.00106
NM_182961.4(SYNE1):c.13636G>A (p.Val4546Ile) rs4870093 0.00106
NM_182961.4(SYNE1):c.21523-8T>G rs187773880 0.00106
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr) rs138617999 0.00106
NM_001040167.2(LFNG):c.612C>T (p.Tyr204=) rs147266260 0.00105
NM_001102564.3(IFT43):c.54+15G>T rs372505367 0.00105
NM_001184.4(ATR):c.2637C>T (p.Ala879=) rs150512706 0.00105
NM_001267550.2(TTN):c.63165G>A (p.Pro21055=) rs72646852 0.00105
NM_001329943.3(KIAA0586):c.1130-16A>C rs187748315 0.00105
NM_002180.3(IGHMBP2):c.2844G>A (p.Gly948=) rs147918962 0.00105
NM_004565.3(PEX14):c.208T>G (p.Ser70Ala) rs77261230 0.00105
NM_006846.4(SPINK5):c.2382T>C (p.Pro794=) rs188840406 0.00105
NM_018136.5(ASPM):c.-9G>T rs141108591 0.00105
NM_147127.5(EVC2):c.2707-13A>T rs146588799 0.00105
NM_000543.5(SMPD1):c.762G>A (p.Leu254=) rs143939609 0.00104
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met) rs146627500 0.00104
NM_001267550.2(TTN):c.24150C>T (p.Ser8050=) rs185062935 0.00104
NM_001267550.2(TTN):c.29605-12T>C rs143352892 0.00104
NM_001267550.2(TTN):c.30384T>C (p.Asp10128=) rs188584219 0.00104
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr) rs144668626 0.00104
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys) rs56264840 0.00104
NM_002454.3(MTRR):c.781-14A>G rs112996747 0.00104
NM_004100.5(EYA4):c.-356T>C rs375432060 0.00104
NM_201253.3(CRB1):c.2103C>G (p.Pro701=) rs144436610 0.00104
NM_201384.3(PLEC):c.10203C>T (p.Pro3401=) rs201096903 0.00104
NM_000277.3(PAH):c.*19G>T rs372637021 0.00103
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878 0.00103
NM_000543.5(SMPD1):c.1091+9C>T rs143612450 0.00103
NM_001267550.2(TTN):c.101406C>G (p.Val33802=) rs55802460 0.00103
NM_001267550.2(TTN):c.106638G>A (p.Arg35546=) rs56324602 0.00103
NM_001267550.2(TTN):c.22692A>T (p.Thr7564=) rs187182557 0.00103
NM_001267550.2(TTN):c.72624A>G (p.Pro24208=) rs56293906 0.00103
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly) rs150430592 0.00103
NM_001351132.2(PEX5):c.658C>T (p.Arg220Trp) rs200020561 0.00103
NM_001367624.2(ZNF469):c.10518G>A (p.Pro3506=) rs376379111 0.00103
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu) rs138329459 0.00103
NM_004700.4(KCNQ4):c.1818C>G (p.Asp606Glu) rs139835231 0.00103
NM_004700.4(KCNQ4):c.1986C>G (p.Pro662=) rs191631836 0.00103
NM_016373.4(WWOX):c.669T>C (p.Asp223=) rs72549408 0.00103
NM_022124.6(CDH23):c.198G>A (p.Val66=) rs111033288 0.00103
NM_052989.3(IFT122):c.2433C>T (p.Cys811=) rs141626835 0.00103
NM_182961.4(SYNE1):c.13101C>T (p.Ile4367=) rs140136749 0.00103
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00102
NM_001083961.2(WDR62):c.3231C>T (p.Pro1077=) rs187029707 0.00102
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val) rs56347248 0.00102
NM_001267550.2(TTN):c.49998T>C (p.Asn16666=) rs376917681 0.00102
NM_002160.4(TNC):c.2490C>T (p.Ile830=) rs145321605 0.00102
NM_013382.7(POMT2):c.1593G>A (p.Leu531=) rs147934334 0.00102
NM_014780.5(CUL7):c.3490C>T (p.Arg1164Trp) rs201135654 0.00102
NM_015474.4(SAMHD1):c.1797C>T (p.Asn599=) rs35102927 0.00102
NM_016373.4(WWOX):c.888C>G (p.Ser296=) rs3764341 0.00102
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=) rs137925439 0.00102
NM_000019.4(ACAT1):c.480A>G (p.Pro160=) rs141131039 0.00101
NM_000360.4(TH):c.1105-14C>T rs200496790 0.00101
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131 0.00101
NM_001039958.2(MESP2):c.67G>A (p.Gly23Ser) rs548112443 0.00101
NM_001101426.4(CRPPA):c.790-11C>T rs141363557 0.00101
NM_001171.6(ABCC6):c.600+23C>T rs72664290 0.00101
NM_001184.4(ATR):c.4200A>T (p.Leu1400=) rs150562945 0.00101
NM_001379286.1(ZNF423):c.807C>T (p.Asp269=) rs145503941 0.00101
NM_001382391.1(CSPP1):c.2122A>G (p.Ser708Gly) rs201316149 0.00101
NM_001384474.1(LOXHD1):c.6099C>T (p.Asn2033=) rs146200756 0.00101
NM_003896.4(ST3GAL5):c.390G>A (p.Ala130=) rs144270260 0.00101
NM_004560.4(ROR2):c.937+16C>T rs112054737 0.00101
NM_015102.5(NPHP4):c.3232-12C>T rs370840400 0.00101
NM_021971.4(GMPPB):c.640+11G>A rs191912441 0.00101
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu) rs142857685 0.00101
NM_139343.3(BIN1):c.1611C>T (p.Asp537=) rs142523172 0.00101
NM_201384.3(PLEC):c.4980C>T (p.Ala1660=) rs199612329 0.00101
NM_001267550.2(TTN):c.1776T>C (p.Asp592=) rs147081804 0.00100
NM_001267550.2(TTN):c.76523C>A (p.Pro25508Gln) rs188085512 0.00100
NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala) rs150682764 0.00100
NM_182961.4(SYNE1):c.4031G>A (p.Arg1344Gln) rs144566713 0.00100
NM_000382.3(ALDH3A2):c.119A>G (p.Asp40Gly) rs147190807 0.00099
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=) rs56026369 0.00099
NM_001267550.2(TTN):c.39296-13C>T rs372380420 0.00099
NM_001267550.2(TTN):c.96998G>A (p.Arg32333His) rs138846756 0.00099
NM_001379286.1(ZNF423):c.3602-16C>T rs200838088 0.00099
NM_025132.4(WDR19):c.2715G>A (p.Lys905=) rs200339331 0.00099
NM_153240.5(NPHP3):c.3663C>T (p.Ala1221=) rs112144165 0.00099
NM_182961.4(SYNE1):c.7156A>G (p.Ile2386Val) rs147947903 0.00099
NM_000057.4(BLM):c.3879A>G (p.Glu1293=) rs28377085 0.00098
NM_001127649.3(PEX26):c.497G>A (p.Arg166Gln) rs34194489 0.00098
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=) rs72646842 0.00098
NM_001329943.3(KIAA0586):c.200-14C>A rs373882617 0.00098
NM_001329943.3(KIAA0586):c.600G>A (p.Leu200=) rs61738360 0.00098
NM_002160.4(TNC):c.5223G>A (p.Arg1741=) rs62638694 0.00098
NM_002857.4(PEX19):c.459G>A (p.Leu153=) rs78340311 0.00098
NM_006019.4(TCIRG1):c.1715C>T (p.Pro572Leu) rs115854062 0.00098
NM_016938.5(EFEMP2):c.990G>A (p.Pro330=) rs61740381 0.00098
NM_020779.4(WDR35):c.1471-7A>G rs376388391 0.00098
NM_020779.4(WDR35):c.437-13T>C rs367802842 0.00098
NM_021942.6(TRAPPC11):c.1287+10G>A rs190478555 0.00098
NM_025074.7(FRAS1):c.*503T>C rs3749484 0.00098
NM_182961.4(SYNE1):c.14281A>G (p.Arg4761Gly) rs187910661 0.00098
NM_201384.3(PLEC):c.9633G>A (p.Pro3211=) rs199870482 0.00098
NM_000083.3(CLCN1):c.1990C>T (p.His664Tyr) rs201218706 0.00097
NM_001267550.2(TTN):c.25704G>A (p.Arg8568=) rs150544093 0.00097
NM_004565.3(PEX14):c.267C>G (p.Val89=) rs146359055 0.00097
NM_020661.4(AICDA):c.*1089C>T rs141460280 0.00097
NM_206933.4(USH2A):c.3158-7A>G rs201558076 0.00097
NM_000162.5(GCK):c.*847G>A rs76374134 0.00096
NM_000466.3(PEX1):c.3371A>G (p.Asn1124Ser) rs147870525 0.00096
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val) rs141818764 0.00096
NM_001267550.2(TTN):c.107961T>C (p.His35987=) rs377439315 0.00096
NM_001267550.2(TTN):c.18938G>C (p.Ser6313Thr) rs200120672 0.00096
NM_001283009.2(RTEL1):c.1481+18C>T rs144022543 0.00096
NM_001329943.3(KIAA0586):c.340+15T>C rs139305633 0.00096
NM_002109.6(HARS1):c.730-17G>A rs189624055 0.00096
NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=) rs139926138 0.00096
NM_014956.5(CEP164):c.1484C>G (p.Pro495Arg) rs59763167 0.00096
NM_020779.4(WDR35):c.142+10T>C rs186647997 0.00096
NM_022124.6(CDH23):c.510C>T (p.Ser170=) rs143341423 0.00096
NM_024753.5(TTC21B):c.3874-14T>C rs200347449 0.00096
NM_032575.3(GLIS2):c.477G>A (p.Ser159=) rs148123444 0.00096
NM_033028.5(BBS4):c.1049A>G (p.Asn350Ser) rs150395094 0.00096
NM_182961.4(SYNE1):c.9507+19A>G rs200381107 0.00096
NM_000180.4(GUCY2D):c.1236C>T (p.Asp412=) rs61749678 0.00095
NM_000782.5(CYP24A1):c.*885T>G rs182056037 0.00095
NM_020458.4(TTC7A):c.2085C>G (p.Pro695=) rs139460494 0.00095
NM_025132.4(WDR19):c.1135-18C>G rs187658795 0.00095
NM_052989.3(IFT122):c.825G>T (p.Lys275Asn) rs117517364 0.00095
NM_139343.3(BIN1):c.1003-15G>A rs149290511 0.00095
NM_182961.4(SYNE1):c.581+18G>A rs111309750 0.00095
NM_001267550.2(TTN):c.29079G>A (p.Ala9693=) rs372997298 0.00094
NM_001267550.2(TTN):c.80322C>T (p.Ala26774=) rs55892928 0.00094
NM_004525.3(LRP2):c.12462-13C>T rs139211353 0.00094
NM_004937.3(CTNS):c.834G>A (p.Leu278=) rs139519275 0.00094
NM_014780.5(CUL7):c.465A>T (p.Gly155=) rs150212051 0.00094
NM_020779.4(WDR35):c.507A>G (p.Lys169=) rs200495720 0.00094
NM_201384.3(PLEC):c.11611G>A (p.Gly3871Ser) rs201419047 0.00094
NM_000057.4(BLM):c.3359-13A>G rs200250931 0.00093
NM_000287.4(PEX6):c.1677C>A (p.Asp559Glu) rs61732159 0.00093
NM_000784.4(CYP27A1):c.1104G>A (p.Val368=) rs151064520 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_001378454.1(ALMS1):c.8546G>A (p.Arg2849Lys) rs200009686 0.00093
NM_002857.4(PEX19):c.16G>A (p.Glu6Lys) rs145845197 0.00093
NM_006432.5(NPC2):c.363+7G>A rs200463204 0.00093
NM_015046.7(SETX):c.2124T>C (p.Ser708=) rs139236924 0.00093
NM_022336.4(EDAR):c.849C>T (p.Ser283=) rs145796324 0.00093
NM_024685.4(BBS10):c.1545T>C (p.Asp515=) rs77565309 0.00093
NM_138694.4(PKHD1):c.3097+15G>T rs376878007 0.00093
NM_153717.3(EVC):c.2707A>G (p.Ile903Val) rs143678893 0.00093
NM_201384.3(PLEC):c.6594C>T (p.Thr2198=) rs144242254 0.00093
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) rs35224686 0.00092
NM_000243.3(MEFV):c.911-12G>A rs372016564 0.00092
NM_000302.4(PLOD1):c.2028+8G>T rs181951731 0.00092
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His) rs142723249 0.00092
NM_001184.4(ATR):c.5070C>T (p.Ala1690=) rs142881746 0.00092
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys) rs72648939 0.00092
NM_016938.5(EFEMP2):c.738G>A (p.Glu246=) rs144780990 0.00092
NM_138387.4(G6PC3):c.189C>T (p.Ile63=) rs144594971 0.00092
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776 0.00091
NM_001017420.3(ESCO2):c.*299T>C rs113728758 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_001267550.2(TTN):c.60821C>T (p.Pro20274Leu) rs72646845 0.00091
NM_005236.3(ERCC4):c.974-6T>C rs201181735 0.00091
NM_007259.5(VPS45):c.318C>T (p.Asp106=) rs150076399 0.00091
NM_014780.5(CUL7):c.2803C>T (p.Leu935=) rs146309619 0.00091
NM_014918.5(CHSY1):c.1725C>T (p.Asp575=) rs151237975 0.00091
NM_022089.4(ATP13A2):c.951C>T (p.Cys317=) rs148391179 0.00091
NM_022336.4(EDAR):c.*1774G>A rs189855301 0.00091
NM_025074.7(FRAS1):c.3010+14_3010+29del rs112289727 0.00091
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=) rs201614215 0.00091
NM_201384.3(PLEC):c.10656G>A (p.Val3552=) rs368312695 0.00091
NM_000243.3(MEFV):c.37C>G (p.Leu13Val) rs139448379 0.00090
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00090
NM_001184.4(ATR):c.3702C>T (p.Phe1234=) rs146222193 0.00090
NM_001267550.2(TTN):c.105228G>A (p.Ser35076=) rs55938627 0.00090
NM_001267550.2(TTN):c.25351+13C>G rs138362885 0.00090
NM_001283009.2(RTEL1):c.762C>T (p.Asn254=) rs150877719 0.00090
NM_002230.4(JUP):c.567C>T (p.Val189=) rs35297577 0.00090
NM_147127.5(EVC2):c.2244C>T (p.Thr748=) rs146588335 0.00090
NM_000553.6(WRN):c.2500C>T (p.Arg834Cys) rs3087425 0.00089
NM_000553.6(WRN):c.3900C>A (p.Pro1300=) rs138886038 0.00089
NM_001077418.3(TMEM231):c.900T>C (p.Ile300=) rs199628375 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_014918.5(CHSY1):c.1602A>T (p.Ile534=) rs146586939 0.00089
NM_020779.4(WDR35):c.2149A>G (p.Ile717Val) rs144493712 0.00089
NM_021942.6(TRAPPC11):c.2388A>C (p.Gly796=) rs151021715 0.00089
NM_025216.3(WNT10A):c.208C>T (p.Arg70Trp) rs146460077 0.00089
NM_178335.3(CCDC50):c.883G>T (p.Asp295Tyr) rs75123867 0.00089
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=) rs149260051 0.00089
NM_182961.4(SYNE1):c.24481A>C (p.Asn8161His) rs36215251 0.00089
NM_001077365.2(POMT1):c.1986C>T (p.Ile662=) rs140553130 0.00088
NM_001101426.4(CRPPA):c.1251+16A>T rs187344556 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_001267550.2(TTN):c.41010T>C (p.Asp13670=) rs193191368 0.00088
NM_020964.3(EPG5):c.214G>A (p.Ala72Thr) rs201067154 0.00088
NM_020964.3(EPG5):c.5070A>G (p.Thr1690=) rs35073566 0.00088
NM_000083.3(CLCN1):c.1815T>C (p.Val605=) rs141945240 0.00087
NM_000260.4(MYO7A):c.4620G>A (p.Ala1540=) rs41298745 0.00087
NM_000277.3(PAH):c.706+17G>T rs62508592 0.00087
NM_001171.6(ABCC6):c.2904G>A (p.Leu968=) rs72664287 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_012414.4(RAB3GAP2):c.3867+13C>T rs200579008 0.00087
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile) rs149754073 0.00086
NM_000123.4(ERCC5):c.640C>T (p.Arg214Cys) rs56255799 0.00086
NM_000165.5(GJA1):c.837G>A (p.Ser279=) rs67407537 0.00086
NM_000329.3(RPE65):c.1129-14A>G rs113329701 0.00086
NM_001110219.3(GJB6):c.607A>G (p.Met203Val) rs200674715 0.00086
NM_001267550.2(TTN):c.2775+4G>A rs548681281 0.00086
NM_001267550.2(TTN):c.44784T>C (p.Asp14928=) rs186105748 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_001283009.2(RTEL1):c.2805C>T (p.Leu935=) rs12625047 0.00086
NM_001283009.2(RTEL1):c.3702G>A (p.Pro1234=) rs368176460 0.00086
NM_006005.3(WFS1):c.1683C>T (p.Ile561=) rs71530906 0.00086
NM_012210.4(TRIM32):c.6T>G (p.Ala2=) rs141352486 0.00086
NM_015474.4(SAMHD1):c.275+8T>A rs186225001 0.00086
NM_201384.3(PLEC):c.2508G>A (p.Pro836=) rs116385960 0.00086
NM_201384.3(PLEC):c.6456G>A (p.Ala2152=) rs201072292 0.00086
NM_000288.4(PEX7):c.615C>T (p.Asp205=) rs147298444 0.00085
NM_000553.6(WRN):c.720T>G (p.Asn240Lys) rs148229804 0.00085
NM_001367624.2(ZNF469):c.946G>A (p.Glu316Lys) rs368772806 0.00085
NM_002180.3(IGHMBP2):c.2322A>G (p.Glu774=) rs11228414 0.00085
NM_003384.3(VRK1):c.286+12A>G rs376603491 0.00085
NM_004700.4(KCNQ4):c.972G>A (p.Leu324=) rs137896524 0.00085
NM_013335.4(GMPPA):c.489+16G>A rs202131537 0.00085
NM_016219.5(MAN1B1):c.1229G>A (p.Arg410His) rs145477274 0.00085
NM_153240.5(NPHP3):c.105G>A (p.Lys35=) rs377060857 0.00085
NM_001042545.2(LTBP4):c.2681-10C>G rs200914063 0.00084
NM_001379286.1(ZNF423):c.819C>T (p.Cys273=) rs201499268 0.00084
NM_006005.3(WFS1):c.2184C>T (p.Gly728=) rs71530908 0.00084
NM_014053.4(FLVCR1):c.*279T>C rs17019875 0.00084
NM_014363.6(SACS):c.1917A>G (p.Ala639=) rs138457742 0.00084
NM_052989.3(IFT122):c.41+15G>T rs36222038 0.00084
NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=) rs17752991 0.00084
NM_201384.3(PLEC):c.5471C>T (p.Ala1824Val) rs542642242 0.00084
NM_000271.5(NPC1):c.631+17C>T rs115397659 0.00083
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286 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_002335.4(LRP5):c.2544G>A (p.Pro848=) rs148271293 0.00083
NM_005866.4(SIGMAR1):c.151+15G>A rs368822102 0.00083
NM_016373.4(WWOX):c.1141C>T (p.Arg381Cys) rs200461412 0.00083
NM_017433.5(MYO3A):c.1242A>T (p.Gly414=) rs3758442 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_173551.5(ANKS6):c.1112+18G>A rs146595455 0.00083
NM_182961.4(SYNE1):c.10145+16G>A rs150983931 0.00083
NM_201384.3(PLEC):c.2083-20C>T rs374681191 0.00083
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=) rs145690047 0.00082
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile) rs72649002 0.00082
NM_018718.3(CEP41):c.*3856C>T rs187532705 0.00082
NM_022168.4(IFIH1):c.1642-19G>A rs189341467 0.00082
NM_024596.5(MCPH1):c.647T>C (p.Ile216Thr) rs75741316 0.00082
NM_001267550.2(TTN):c.13976A>G (p.Tyr4659Cys) rs34706803 0.00081
NM_001267550.2(TTN):c.20236G>A (p.Ala6746Thr) rs202108224 0.00081
NM_001267550.2(TTN):c.28970C>T (p.Ser9657Leu) rs200049911 0.00081
NM_001267550.2(TTN):c.36701-16A>G rs577899845 0.00081
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=) rs193022702 0.00081
NM_001283009.2(RTEL1):c.2787C>T (p.Ala929=) rs115030322 0.00081
NM_007259.5(VPS45):c.290-10T>C rs192850081 0.00081
NM_014797.3(ZBTB24):c.783C>T (p.Ser261=) rs141440344 0.00081
NM_182961.4(SYNE1):c.11196T>C (p.Ala3732=) rs138528119 0.00081
NM_198428.3(BBS9):c.2086G>A (p.Asp696Asn) rs117543061 0.00081
NM_201384.3(PLEC):c.6311C>T (p.Ala2104Val) rs201959200 0.00081
NM_201384.3(PLEC):c.8331C>T (p.Tyr2777=) rs141673192 0.00081
NM_206933.4(USH2A):c.14754G>A (p.Thr4918=) rs150286388 0.00081
NM_000023.4(SGCA):c.843C>A (p.Ala281=) rs149487996 0.00080
NM_001267550.2(TTN):c.32807-10T>A rs138192315 0.00080
NM_001367624.2(ZNF469):c.2035G>A (p.Glu679Lys) rs551591362 0.00080
NM_001382391.1(CSPP1):c.2539-12T>A rs185726462 0.00080
NM_001382391.1(CSPP1):c.924-11G>A rs149756527 0.00080
NM_138694.4(PKHD1):c.1877A>G (p.Lys626Arg) rs117122807 0.00080
NM_182961.4(SYNE1):c.11430G>A (p.Thr3810=) rs137919524 0.00080
NM_201384.3(PLEC):c.1878T>A (p.Thr626=) rs377039110 0.00080
NM_000287.4(PEX6):c.1491C>T (p.Ser497=) rs79238506 0.00079
NM_001267550.2(TTN):c.1537-4G>A rs56006378 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.85248A>T (p.Thr28416=) rs187180708 0.00079
NM_001267550.2(TTN):c.88476C>G (p.Thr29492=) rs190406444 0.00079
NM_025132.4(WDR19):c.1198C>T (p.Leu400=) rs199765304 0.00079
NM_025132.4(WDR19):c.2364-3del rs757992911 0.00079
NM_153717.3(EVC):c.1770C>T (p.Asp590=) rs141755737 0.00079
NM_001184.4(ATR):c.5987T>C (p.Met1996Thr) rs150339560 0.00078
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn) rs144963736 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_001614.5(ACTG1):c.877C>T (p.Leu293=) rs143205514 0.00078
NM_002857.4(PEX19):c.564G>A (p.Leu188=) rs149058086 0.00078
NM_005982.4(SIX1):c.330G>A (p.Arg110=) rs73309461 0.00078
NM_012463.4(ATP6V0A2):c.1590C>T (p.Pro530=) rs80355657 0.00078
NM_015102.5(NPHP4):c.2820G>A (p.Ala940=) rs35575973 0.00078
NM_016373.4(WWOX):c.107+18G>A rs146301453 0.00078
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_022168.4(IFIH1):c.623-19C>G rs371045477 0.00078
NM_022336.4(EDAR):c.-189T>C rs569682476 0.00078
NM_025216.3(WNT10A):c.591C>T (p.Ala197=) rs367808568 0.00078
NM_170784.3(MKKS):c.-618C>T rs146473397 0.00078
NM_182961.4(SYNE1):c.8238G>A (p.Glu2746=) rs139838755 0.00078
NM_000211.5(ITGB2):c.732C>T (p.Ala244=) rs146557638 0.00077
NM_001077418.3(TMEM231):c.471G>A (p.Ala157=) rs375273015 0.00077
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu) rs139398993 0.00077
NM_001378454.1(ALMS1):c.2354A>G (p.Glu785Gly) rs17848880 0.00077
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val) rs28763971 0.00077
NM_015702.3(MMADHC):c.420C>T (p.Tyr140=) rs139369078 0.00077
NM_020964.3(EPG5):c.5869+18C>T rs202231195 0.00077
NM_173551.5(ANKS6):c.1782C>T (p.Ala594=) rs78732864 0.00077
NM_201384.3(PLEC):c.8976C>T (p.Ile2992=) rs375914011 0.00077
NM_000506.5(F2):c.843C>T (p.Gly281=) rs147699032 0.00076
NM_000760.4(CSF3R):c.1723+8T>C rs143931193 0.00076
NM_001127453.2(GSDME):c.864G>A (p.Ala288=) rs144358787 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_001378454.1(ALMS1):c.8919G>A (p.Ala2973=) rs116854981 0.00076
NM_001382391.1(CSPP1):c.3470-20G>T rs148896413 0.00076
NM_006208.3(ENPP1):c.2335A>C (p.Thr779Pro) rs1805138 0.00076
NM_006892.4(DNMT3B):c.922-8C>T rs200508870 0.00076
NM_007259.5(VPS45):c.126G>A (p.Ser42=) rs148944527 0.00076
NM_007259.5(VPS45):c.1626-14A>C rs201279066 0.00076
NM_014797.3(ZBTB24):c.2070G>A (p.Thr690=) rs148353968 0.00076
NM_015102.5(NPHP4):c.3843G>T (p.Leu1281=) rs9662691 0.00076
NM_016373.4(WWOX):c.410-4A>T rs183410581 0.00076
NM_025114.4(CEP290):c.6646-16T>C rs367543543 0.00076
NM_025132.4(WDR19):c.3261+12G>A rs137960733 0.00076
NM_198428.3(BBS9):c.-429G>C rs184271281 0.00076
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys) rs146752751 0.00076
NM_201384.3(PLEC):c.8182A>G (p.Ile2728Val) rs200061415 0.00076
NM_000023.4(SGCA):c.366G>A (p.Leu122=) rs147739328 0.00075
NM_000124.4(ERCC6):c.2875G>T (p.Val959Leu) rs190863815 0.00075
NM_000254.3(MTR):c.3774C>T (p.Pro1258=) rs76418646 0.00075
NM_000288.4(PEX7):c.339+10A>G rs374668045 0.00075
NM_001267550.2(TTN):c.21555C>A (p.Ile7185=) rs201155967 0.00075
NM_001267550.2(TTN):c.65775C>T (p.Ser21925=) rs72646867 0.00075
NM_002618.4(PEX13):c.141A>G (p.Ala47=) rs79842991 0.00075
NM_014363.6(SACS):c.2146C>T (p.His716Tyr) rs146852400 0.00075
NM_000271.5(NPC1):c.57+11G>C rs548958639 0.00074
NM_000329.3(RPE65):c.1244-5C>T rs202185816 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_001384474.1(LOXHD1):c.6599G>A (p.Arg2200Gln) rs148468627 0.00074
NM_004393.6(DAG1):c.2520T>C (p.Thr840=) rs149564053 0.00074
NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn) rs148424288 0.00074
NM_000302.4(PLOD1):c.976-16C>T rs142329815 0.00073
NM_001379286.1(ZNF423):c.1560C>T (p.Asp520=) rs149371639 0.00073
NM_001384140.1(PCDH15):c.243G>A (p.Val81=) rs151119732 0.00073
NM_004525.3(LRP2):c.3311A>G (p.His1104Arg) rs144906000 0.00073
NM_014425.5(INVS):c.1704G>A (p.Gly568=) rs114645869 0.00073
NM_020779.4(WDR35):c.853A>T (p.Ile285Phe) rs200059077 0.00073
NM_024685.4(BBS10):c.*632T>C rs78402495 0.00073
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val) rs139306706 0.00073
NM_182961.4(SYNE1):c.14163C>T (p.Asp4721=) rs3734366 0.00073
NM_182961.4(SYNE1):c.17797G>A (p.Ala5933Thr) rs113962905 0.00073
NM_207361.6(FREM2):c.4916G>A (p.Arg1639Lys) rs77886481 0.00073
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669 0.00072
NM_001267550.2(TTN):c.82081C>G (p.Pro27361Ala) rs56137800 0.00072
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn) rs117209107 0.00072
NM_022089.4(ATP13A2):c.3529G>A (p.Gly1177Ser) rs547860186 0.00072
NM_201384.3(PLEC):c.1158C>G (p.Ser386Arg) rs201667254 0.00072
NM_001139.3(ALOX12B):c.222C>T (p.Tyr74=) rs74896368 0.00071
NM_001145809.2(MYH14):c.394G>A (p.Gly132Ser) rs199910006 0.00071
NM_001199107.2(TBC1D24):c.1473C>G (p.Pro491=) rs370427146 0.00071
NM_001267550.2(TTN):c.106578T>A (p.Ser35526=) rs55838839 0.00071
NM_001267550.2(TTN):c.1246-16G>A rs72647847 0.00071
NM_001267550.2(TTN):c.40786+15C>A rs187582271 0.00071
NM_001267550.2(TTN):c.44529C>T (p.His14843=) rs55973744 0.00071
NM_001267550.2(TTN):c.52406-16G>A rs372221219 0.00071
NM_002180.3(IGHMBP2):c.1418+11C>T rs201279838 0.00071
NM_004836.7(EIF2AK3):c.2014G>A (p.Glu672Lys) rs35226268 0.00071
NM_014425.5(INVS):c.2775C>T (p.Arg925=) rs146360442 0.00071
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser) rs149925563 0.00071
NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser) rs147680216 0.00071
NM_033064.5(ATCAY):c.-241C>T rs376727951 0.00071
NM_182961.4(SYNE1):c.4008+19G>A rs202076757 0.00071
NM_000543.5(SMPD1):c.1598C>T (p.Pro533Leu) rs199915216 0.00070
NM_001267550.2(TTN):c.30224-8T>G rs72650010 0.00070
NM_001267550.2(TTN):c.6041C>T (p.Thr2014Ile) rs189149543 0.00070
NM_005529.7(HSPG2):c.11671+5G>A rs77527456 0.00070
NM_014956.5(CEP164):c.194+20G>A rs184566454 0.00070
NM_018451.5(CENPJ):c.2806A>G (p.Ser936Gly) rs75008861 0.00070
NM_170784.3(MKKS):c.-74G>A rs113994194 0.00070
NM_000543.5(SMPD1):c.1340+12A>T rs140221837 0.00069
NM_000553.6(WRN):c.3237G>A (p.Ser1079=) rs11574345 0.00069
NM_001039141.3(TRIOBP):c.2201C>T (p.Ser734Phe) rs199794705 0.00069
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=) rs200173934 0.00069
NM_006642.5(SDCCAG8):c.267T>C (p.Ser89=) rs148818431 0.00069
NM_022124.6(CDH23):c.5541C>T (p.Asn1847=) rs148632119 0.00069
NM_152618.3(BBS12):c.1207G>A (p.Val403Met) rs78000298 0.00069
NM_201384.3(PLEC):c.11208G>A (p.Pro3736=) rs200273549 0.00069
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) rs121909034 0.00068
NM_001127671.2(LIFR):c.3039G>C (p.Val1013=) rs754819659 0.00068
NM_001283009.2(RTEL1):c.1349-14C>T rs373301404 0.00068
NM_004937.3(CTNS):c.516C>T (p.Ala172=) rs143405190 0.00068
NM_014780.5(CUL7):c.1982G>A (p.Arg661Gln) rs139887350 0.00068
NM_015602.4(TOR1AIP1):c.428C>T (p.Ser143Phe) rs141391430 0.00068
NM_020779.4(WDR35):c.1401-15T>G rs201903683 0.00068
NM_022168.4(IFIH1):c.2898+17G>A rs145381408 0.00068
NM_201384.3(PLEC):c.5772G>C (p.Glu1924Asp) rs782273453 0.00068
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala) rs61753220 0.00067
NM_001283009.2(RTEL1):c.1595+19G>A rs202032186 0.00067
NM_016373.4(WWOX):c.807C>T (p.Asn269=) rs62034095 0.00067
NM_139343.3(BIN1):c.30G>A (p.Thr10=) rs35535012 0.00067
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930 0.00067
NM_000466.3(PEX1):c.645C>G (p.Thr215=) rs151041559 0.00066
NM_001127671.2(LIFR):c.2578C>T (p.Arg860Trp) rs146205670 0.00066
NM_001267550.2(TTN):c.75192T>C (p.Thr25064=) rs370480927 0.00066
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) rs72648237 0.00066
NM_001378454.1(ALMS1):c.4134T>C (p.Ser1378=) rs200491758 0.00066
NM_003384.3(VRK1):c.1020C>T (p.Asp340=) rs147853760 0.00066
NM_004565.3(PEX14):c.1116C>T (p.Asn372=) rs149856184 0.00066
NM_013382.7(POMT2):c.1935C>T (p.Leu645=) rs141193672 0.00066
NM_014780.5(CUL7):c.4323C>T (p.Gly1441=) rs148472550 0.00066
NM_015102.5(NPHP4):c.4141-11C>T rs139203183 0.00066
NM_022098.4(XPNPEP3):c.970-9T>C rs117568682 0.00066
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser) rs148718874 0.00066
NM_153240.5(NPHP3):c.2769C>T (p.Phe923=) rs116174472 0.00066
NM_000162.5(GCK):c.-215A>G rs13306390 0.00065
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu) rs142994610 0.00065
NM_001267550.2(TTN):c.40927+16C>T rs369965589 0.00065
NM_001267550.2(TTN):c.63879C>T (p.Asp21293=) rs200463088 0.00065
NM_002109.6(HARS1):c.234C>T (p.Asp78=) rs142994969 0.00065
NM_002180.3(IGHMBP2):c.548-10T>G rs139207271 0.00065
NM_005529.7(HSPG2):c.12256C>T (p.Arg4086Trp) rs146179360 0.00065
NM_005529.7(HSPG2):c.3794-3C>A rs141000672 0.00065
NM_014994.3(MAPKBP1):c.4030G>T (p.Gly1344Cys) rs75437827 0.00065
NM_025132.4(WDR19):c.3416A>G (p.Gln1139Arg) rs75621037 0.00065
NM_001127671.2(LIFR):c.1915A>T (p.Met639Leu) rs143808825 0.00064
NM_001139.3(ALOX12B):c.*66C>T rs74252603 0.00064
NM_001267550.2(TTN):c.59316G>A (p.Pro19772=) rs377180286 0.00064
NM_001267550.2(TTN):c.96918C>T (p.Ile32306=) rs72648266 0.00064
NM_006846.4(SPINK5):c.1132A>C (p.Lys378Gln) rs180696183 0.00064
NM_012463.4(ATP6V0A2):c.*1122A>G rs3827881 0.00064
NM_015102.5(NPHP4):c.1482G>A (p.Gln494=) rs199557439 0.00064
NM_015102.5(NPHP4):c.2557G>T (p.Asp853Tyr) rs199875059 0.00064
NM_016219.5(MAN1B1):c.1765-17C>T rs569907992 0.00064
NM_032492.4(JAGN1):c.315C>A (p.Ile105=) rs185449117 0.00064
NM_201384.3(PLEC):c.2425C>T (p.Leu809=) rs771803576 0.00064
NM_206933.4(USH2A):c.5142T>C (p.Asn1714=) rs143546878 0.00064
NM_001127649.3(PEX26):c.643G>A (p.Glu215Lys) rs138232280 0.00063
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr) rs72629793 0.00063
NM_001267550.2(TTN):c.19191G>A (p.Thr6397=) rs140495148 0.00063
NM_001267550.2(TTN):c.55659G>A (p.Val18553=) rs368450420 0.00063
NM_001267550.2(TTN):c.6790+12C>T rs200187117 0.00063
NM_003619.4(PRSS12):c.2535C>T (p.Ser845=) rs145964630 0.00063
NM_014780.5(CUL7):c.4898C>T (p.Thr1633Met) rs139249497 0.00063
NM_016373.4(WWOX):c.468G>T (p.Arg156Ser) rs140817689 0.00063
NM_021942.6(TRAPPC11):c.734+17A>G rs376472233 0.00063
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=) rs146819206 0.00063
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp) rs147202164 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_001130987.2(DYSF):c.559G>A (p.Gly187Arg) rs200970855 0.00062
NM_002180.3(IGHMBP2):c.1551C>T (p.Leu517=) rs150549628 0.00062
NM_002485.5(NBN):c.441C>T (p.Cys147=) rs137857529 0.00062
NM_020964.3(EPG5):c.4134A>G (p.Glu1378=) rs200489622 0.00062
NM_025114.4(CEP290):c.3574-3C>G rs781450470 0.00062
NM_025216.3(WNT10A):c.1087A>C (p.Asn363His) rs34972707 0.00062
NM_201384.3(PLEC):c.7951C>T (p.Arg2651Trp) rs145977158 0.00062
NM_001040167.2(LFNG):c.581+14C>T rs371327031 0.00061
NM_001048174.2(MUTYH):c.1393-28G>A rs373226007 0.00061
NM_001077365.2(POMT1):c.2004-20C>T rs372767898 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_001267550.2(TTN):c.9703+17T>A rs377693857 0.00061
NM_001329943.3(KIAA0586):c.1583+15G>A rs201295491 0.00061
NM_001379286.1(ZNF423):c.1677G>A (p.Pro559=) rs142344079 0.00061
NM_001384140.1(PCDH15):c.4334C>G (p.Ala1445Gly) rs146745502 0.00061
NM_001614.5(ACTG1):c.363+5G>A rs116329164 0.00061
NM_003332.4(TYROBP):c.68G>A (p.Arg23His) rs79272253 0.00061
NM_012414.4(RAB3GAP2):c.3226-18T>G rs139628150 0.00061
NM_014918.5(CHSY1):c.1218C>T (p.Asp406=) rs113219895 0.00061
NM_014956.5(CEP164):c.2362-15C>T rs201819583 0.00061
NM_018136.5(ASPM):c.9492T>C (p.Tyr3164=) rs143931757 0.00061
NM_031885.5(BBS2):c.126T>G (p.Ile42Met) rs139945733 0.00061
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser) rs200204857 0.00061
NM_182961.4(SYNE1):c.24349C>T (p.Arg8117Trp) rs144056525 0.00061
NM_206933.4(USH2A):c.6924A>G (p.Ala2308=) rs148504065 0.00061
NM_000083.3(CLCN1):c.2207C>T (p.Thr736Ile) rs139757692 0.00060
NM_001017420.3(ESCO2):c.*34G>A rs182715200 0.00060
NM_001267550.2(TTN):c.59322A>G (p.Pro19774=) rs188063446 0.00060
NM_016938.5(EFEMP2):c.714C>T (p.Gly238=) rs2234467 0.00060
NM_020632.3(ATP6V0A4):c.1956G>A (p.Pro652=) rs141411124 0.00060
NM_022168.4(IFIH1):c.2784C>T (p.His928=) rs145187664 0.00060
NM_147127.5(EVC2):c.3431G>A (p.Ser1144Asn) rs200609501 0.00060
NM_173551.5(ANKS6):c.937G>A (p.Asp313Asn) rs79073889 0.00060
NM_176824.3(BBS7):c.171G>A (p.Val57=) rs144525608 0.00060
NM_000329.3(RPE65):c.48T>C (p.Phe16=) rs62642581 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_003319.4(TTN):c.19502-5A>G rs182706301 0.00059
NM_020458.4(TTC7A):c.158G>C (p.Ser53Thr) rs117017326 0.00059
NM_144596.4(TTC8):c.330-15T>A rs187484893 0.00059
NM_147127.5(EVC2):c.1287T>C (p.Ser429=) rs148775651 0.00059
NM_201384.3(PLEC):c.5602C>T (p.Arg1868Trp) rs200543521 0.00059
NM_000492.4(CFTR):c.3717+45G>A rs145743767 0.00058
NM_001039141.3(TRIOBP):c.4077T>C (p.Pro1359=) rs139074745 0.00058
NM_001184.4(ATR):c.993C>T (p.Asp331=) rs139379319 0.00058
NM_001267550.2(TTN):c.79700A>G (p.Asn26567Ser) rs183844833 0.00058
NM_001692.4(ATP6V1B1):c.1023C>T (p.Ser341=) rs117826071 0.00058
NM_002454.3(MTRR):c.879T>C (p.Thr293=) rs773629167 0.00058
NM_004836.7(EIF2AK3):c.1539G>A (p.Lys513=) rs55716350 0.00058
NM_004937.3(CTNS):c.534C>T (p.Ile178=) rs113967200 0.00058
NM_014956.5(CEP164):c.1135A>G (p.Ser379Gly) rs200122409 0.00058
NM_022124.6(CDH23):c.4203C>T (p.Thr1401=) rs202166096 0.00058
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433 0.00058
NM_052989.3(IFT122):c.3392-20C>T rs200747264 0.00058
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe) rs201432731 0.00058
NM_198428.3(BBS9):c.1432+7T>G rs150963080 0.00058
NM_000466.3(PEX1):c.1085C>T (p.Ser362Leu) rs138758170 0.00057
NM_000557.5(GDF5):c.1128G>T (p.Gln376His) rs138130158 0.00057
NM_001145809.2(MYH14):c.-13C>T rs187670753 0.00057
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys) rs191482653 0.00057
NM_001378454.1(ALMS1):c.8942A>G (p.Asn2981Ser) rs200390821 0.00057
NM_014797.3(ZBTB24):c.1688T>C (p.Ile563Thr) rs142830104 0.00057
NM_031471.6(FERMT3):c.1692C>T (p.Asp564=) rs200243967 0.00057
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile) rs149111536 0.00057
NM_201384.3(PLEC):c.13149C>T (p.Ala4383=) rs199719299 0.00057
NM_201384.3(PLEC):c.4162C>T (p.Arg1388Trp) rs188305538 0.00057
NM_000760.4(CSF3R):c.2496G>A (p.Ala832=) rs150501885 0.00056
NM_001101426.4(CRPPA):c.222G>A (p.Arg74=) rs769058832 0.00056
NM_001267550.2(TTN):c.32011+10C>G rs192002980 0.00056
NM_001267550.2(TTN):c.40634-9A>G rs373511249 0.00056
NM_001267550.2(TTN):c.58155C>A (p.Pro19385=) rs373587801 0.00056
NM_001382391.1(CSPP1):c.1023-20del rs550798896 0.00056
NM_001692.4(ATP6V1B1):c.*80C>T rs117574187 0.00056
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_013382.7(POMT2):c.1537A>G (p.Asn513Asp) rs117173425 0.00056
NM_014053.4(FLVCR1):c.*2443C>T rs117380165 0.00056
NM_014797.3(ZBTB24):c.1370+15A>T rs2232445 0.00056
NM_018451.5(CENPJ):c.2462C>T (p.Thr821Met) rs144938364 0.00056
NM_020779.4(WDR35):c.*487C>T rs116951767 0.00056
NM_021942.6(TRAPPC11):c.117C>G (p.Ala39=) rs145842147 0.00056
NM_032575.3(GLIS2):c.*1176C>T rs150762287 0.00056
NM_032575.3(GLIS2):c.1105G>A (p.Gly369Ser) rs200720013 0.00056
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463 0.00056
NM_182961.4(SYNE1):c.3669+10T>C rs187598275 0.00056
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys) rs111033275 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_001042545.2(LTBP4):c.2238C>T (p.Pro746=) rs201588216 0.00055
NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=) rs143475751 0.00055
NM_001267550.2(TTN):c.44548+9A>G rs372725070 0.00055
NM_001283009.2(RTEL1):c.2915C>T (p.Thr972Ile) rs199834369 0.00055
NM_001614.5(ACTG1):c.228C>T (p.Val76=) rs143028649 0.00055
NM_005881.4(BCKDK):c.249C>T (p.Asp83=) rs138821043 0.00055
NM_021942.6(TRAPPC11):c.219G>C (p.Glu73Asp) rs138760818 0.00055
NM_138694.4(PKHD1):c.1675C>T (p.Arg559Trp) rs141384205 0.00055
NM_173551.5(ANKS6):c.975C>T (p.Asp325=) rs76803608 0.00055
NM_000231.3(SGCG):c.505+15G>A rs144143366 0.00054
NM_000288.4(PEX7):c.418-4G>T rs199552223 0.00054
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys) rs149916178 0.00054
NM_000553.6(WRN):c.3453G>A (p.Glu1151=) rs144116311 0.00054
NM_001267550.2(TTN):c.63876C>T (p.Asn21292=) rs199598302 0.00054
NM_001329943.3(KIAA0586):c.2944+8A>C rs571616049 0.00054
NM_006892.4(DNMT3B):c.204+13C>T rs560602182 0.00054
NM_014956.5(CEP164):c.1410-2A>G rs200074826 0.00054
NM_015311.3(OBSL1):c.2981G>A (p.Arg994His) rs139713392 0.00054
NM_022089.4(ATP13A2):c.106-14C>T rs199706883 0.00054
NM_022336.4(EDAR):c.1138A>C (p.Ser380Arg) rs146567337 0.00054
NM_031471.6(FERMT3):c.930G>C (p.Val310=) rs199508330 0.00054
NM_182961.4(SYNE1):c.1730-7G>A rs367603152 0.00054
NM_000553.6(WRN):c.4248T>C (p.Asp1416=) rs112024742 0.00053
NM_000601.6(HGF):c.1891G>A (p.Val631Met) rs145494248 0.00053
NM_001127671.2(LIFR):c.*1840C>G rs190209875 0.00053
NM_001267550.2(TTN):c.10378C>G (p.Pro3460Ala) rs201735487 0.00053
NM_001267550.2(TTN):c.50994T>C (p.Ser16998=) rs752023426 0.00053
NM_001267550.2(TTN):c.99031T>A (p.Ser33011Thr) rs78814506 0.00053
NM_001614.5(ACTG1):c.1017G>C (p.Val339=) rs111305526 0.00053
NM_001614.5(ACTG1):c.774G>A (p.Pro258=) rs61997068 0.00053
NM_012414.4(RAB3GAP2):c.613-14T>A rs374690916 0.00053
NM_015046.7(SETX):c.3336T>C (p.Ala1112=) rs150687078 0.00053
NM_018451.5(CENPJ):c.763A>G (p.Thr255Ala) rs150932292 0.00053
NM_182961.4(SYNE1):c.2697A>G (p.Arg899=) rs75817012 0.00053
NM_182961.4(SYNE1):c.9651+20G>A rs200951972 0.00053
NM_201384.3(PLEC):c.6021G>A (p.Ala2007=) rs200338935 0.00053
NM_000553.6(WRN):c.3422C>T (p.Ser1141Leu) rs139323683 0.00052
NM_001367624.2(ZNF469):c.9555C>G (p.Ala3185=) rs273585636 0.00052
NM_014053.4(FLVCR1):c.*1920T>A rs115914498 0.00052
NM_014918.5(CHSY1):c.573C>T (p.Ser191=) rs147152103 0.00052
NM_015311.3(OBSL1):c.2577G>T (p.Gly859=) rs141559295 0.00052
NM_015311.3(OBSL1):c.2578C>T (p.Pro860Ser) rs117788171 0.00052
NM_015910.7(WDPCP):c.1315G>A (p.Val439Ile) rs199676595 0.00052
NM_018972.4(GDAP1):c.*2463A>G rs9643686 0.00052
NM_022464.5(SIL1):c.573G>A (p.Lys191=) rs148927511 0.00052
NM_080680.3(COL11A2):c.4799G>A (p.Arg1600Gln) rs1799912 0.00052
NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=) rs148335285 0.00052
NM_213599.3(ANO5):c.2029+19T>G rs374035760 0.00052
NM_000057.4(BLM):c.465T>C (p.Asp155=) rs185349681 0.00051
NM_003384.3(VRK1):c.375-8G>C rs191021502 0.00051
NM_004525.3(LRP2):c.9234C>T (p.His3078=) rs116975392 0.00051
NM_006642.5(SDCCAG8):c.348C>T (p.His116=) rs143226730 0.00051
NM_015046.7(SETX):c.3965C>A (p.Thr1322Asn) rs144900653 0.00051
NM_015046.7(SETX):c.7914C>T (p.Phe2638=) rs80296256 0.00051
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser) rs138607412 0.00051
NM_020964.3(EPG5):c.6162G>A (p.Thr2054=) rs368651243 0.00051
NM_022089.4(ATP13A2):c.3405+9C>T rs374766933 0.00051
NM_147127.5(EVC2):c.2178G>A (p.Glu726=) rs147015327 0.00051
NM_173551.5(ANKS6):c.1468G>A (p.Glu490Lys) rs201174056 0.00051
NM_173551.5(ANKS6):c.1828G>A (p.Val610Ile) rs138782444 0.00051
NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly) rs142985368 0.00051
NM_201253.3(CRB1):c.1533C>T (p.Ala511=) rs142224492 0.00051
NM_206933.4(USH2A):c.785-16_785-15del rs150209313 0.00051
NM_000553.6(WRN):c.1882C>G (p.Leu628Val) rs77969734 0.00050
NM_001267550.2(TTN):c.65604T>C (p.Ala21868=) rs200825430 0.00050
NM_012414.4(RAB3GAP2):c.3991C>A (p.Leu1331Ile) rs149842844 0.00050
NM_015102.5(NPHP4):c.1966G>A (p.Asp656Asn) rs191602135 0.00050
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys) rs145771342 0.00050
NM_000231.3(SGCG):c.832G>A (p.Gly278Ser) rs147820869 0.00049
NM_001102564.3(IFT43):c.486G>A (p.Ala162=) rs143729954 0.00049
NM_001283009.2(RTEL1):c.2349C>T (p.Phe783=) rs200068703 0.00049
NM_001367624.2(ZNF469):c.5537C>T (p.Thr1846Met) rs539550777 0.00049
NM_002230.4(JUP):c.297G>A (p.Ser99=) rs200976464 0.00049
NM_004525.3(LRP2):c.13610A>C (p.Gln4537Pro) rs188918037 0.00049
NM_014780.5(CUL7):c.4935C>T (p.Ser1645=) rs116910528 0.00049
NM_201384.3(PLEC):c.11164C>T (p.Leu3722=) rs375598997 0.00049
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met) rs142381713 0.00049
NM_000260.4(MYO7A):c.676G>A (p.Ala226Thr) rs201753022 0.00048
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=) rs72646876 0.00048
NM_001379286.1(ZNF423):c.3180G>A (p.Ala1060=) rs117592972 0.00048
NM_001614.5(ACTG1):c.105C>T (p.Val35=) rs11549193 0.00048
NM_004565.3(PEX14):c.384+17G>A rs199913711 0.00048
NM_020632.3(ATP6V0A4):c.1498A>G (p.Ser500Gly) rs142818468 0.00048
NM_020964.3(EPG5):c.5616C>T (p.Thr1872=) rs141282194 0.00048
NM_022124.6(CDH23):c.1078C>T (p.Leu360=) rs185917383 0.00048
NM_033028.5(BBS4):c.460-20T>C rs200203402 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_000180.4(GUCY2D):c.164C>T (p.Thr55Met) rs201414567 0.00047
NM_001267550.2(TTN):c.54189T>C (p.Tyr18063=) rs2303834 0.00047
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln) rs140714512 0.00047
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=) rs202017608 0.00047
NM_004565.3(PEX14):c.78G>A (p.Glu26=) rs144664869 0.00047
NM_153676.4(USH1C):c.2134-11T>C rs200386499 0.00047
NM_153717.3(EVC):c.175-18C>G rs114621329 0.00047
NM_201384.3(PLEC):c.921C>T (p.Phe307=) rs546380802 0.00047
NM_206933.4(USH2A):c.9258+15T>C rs181894778 0.00047
NM_000180.4(GUCY2D):c.2413-14C>T rs189559705 0.00046
NM_000320.3(QDPR):c.588G>C (p.Glu196Asp) rs112209600 0.00046
NM_000492.4(CFTR):c.274-6T>C rs371315549 0.00046
NM_000782.5(CYP24A1):c.908G>C (p.Cys303Ser) rs76747058 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_002180.3(IGHMBP2):c.344C>T (p.Thr115Met) rs181657861 0.00046
NM_002454.3(MTRR):c.540G>A (p.Val180=) rs149037732 0.00046
NM_003319.4(TTN):c.23663-9A>C rs146208555 0.00046
NM_018136.5(ASPM):c.8166T>C (p.Tyr2722=) rs78315399 0.00046
NM_018718.3(CEP41):c.*4595G>A rs117814753 0.00046
NM_025114.4(CEP290):c.2595C>T (p.Leu865=) rs114632733 0.00046
NM_032575.3(GLIS2):c.1350G>A (p.Ser450=) rs150464446 0.00046
NM_153676.4(USH1C):c.648G>A (p.Leu216=) rs77137413 0.00046
NM_182961.4(SYNE1):c.7713-12C>T rs550804556 0.00046
NM_001023570.4(IQCB1):c.877-11C>T rs192296154 0.00045
NM_001077365.2(POMT1):c.1365+15C>T rs58896330 0.00045
NM_001083961.2(WDR62):c.744C>T (p.Gly248=) rs146898747 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.71369G>A (p.Arg23790His) rs55677134 0.00045
NM_001614.5(ACTG1):c.66T>G (p.Ala22=) rs149682185 0.00045
NM_022124.6(CDH23):c.574G>C (p.Glu192Gln) rs199514829 0.00045
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu) rs79777494 0.00044
NM_001048174.2(MUTYH):c.264+11G>A rs139977567 0.00044
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp) rs75321043 0.00044
NM_001267550.2(TTN):c.99345T>G (p.Gly33115=) rs56398525 0.00044
NM_001283009.2(RTEL1):c.959-10C>T rs202035834 0.00044
NM_001378454.1(ALMS1):c.4885C>T (p.Arg1629Trp) rs201874722 0.00044
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile) rs142334798 0.00044
NM_173551.5(ANKS6):c.537A>G (p.Gln179=) rs200417280 0.00044
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180 0.00043
NM_000492.4(CFTR):c.958T>G (p.Leu320Val) rs144476686 0.00043
NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=) rs150269172 0.00043
NM_001081.4(CUBN):c.8139C>A (p.Thr2713=) rs147742103 0.00043
NM_001267550.2(TTN):c.101376T>C (p.Tyr33792=) rs367732133 0.00043
NM_001267550.2(TTN):c.13969A>C (p.Asn4657His) rs200204761 0.00043
NM_001267550.2(TTN):c.34856-17A>G rs188686309 0.00043
NM_001267550.2(TTN):c.44014+19G>C rs139264089 0.00043
NM_002617.4(PEX10):c.627G>A (p.Glu209=) rs141430704 0.00043
NM_020964.3(EPG5):c.3391A>G (p.Ile1131Val) rs3744997 0.00043
NM_022336.4(EDAR):c.243A>G (p.Lys81=) rs145518416 0.00043
NM_024989.4(PGAP1):c.1220+19T>C rs142559942 0.00043
NM_139343.3(BIN1):c.1292C>T (p.Pro431Leu) rs141119288 0.00043
NM_173551.5(ANKS6):c.2593C>T (p.Pro865Ser) rs199851177 0.00043
NM_000254.3(MTR):c.1959A>C (p.Gln653His) rs562769000 0.00042
NM_000288.4(PEX7):c.748-16C>T rs200965122 0.00042
NM_000760.4(CSF3R):c.2197C>A (p.Pro733Thr) rs78861150 0.00042
NM_001111.5(ADAR):c.3523A>C (p.Arg1175=) rs146625055 0.00042
NM_005529.7(HSPG2):c.10588C>T (p.Arg3530Trp) rs2270699 0.00042
NM_014780.5(CUL7):c.1030G>A (p.Ala344Thr) rs183119565 0.00042
NM_147127.5(EVC2):c.3468G>A (p.Leu1156=) rs201460514 0.00042
NM_000492.4(CFTR):c.3469-17T>C rs199630678 0.00041
NM_001039958.2(MESP2):c.185G>A (p.Arg62Gln) rs566641514 0.00041
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536 0.00041
NM_001267550.2(TTN):c.30433+11T>G rs199848546 0.00041
NM_001267550.2(TTN):c.47379C>T (p.Tyr15793=) rs374281025 0.00041
NM_001267550.2(TTN):c.88459G>A (p.Val29487Met) rs200899806 0.00041
NM_001267550.2(TTN):c.94464T>C (p.Ala31488=) rs138888307 0.00041
NM_001378454.1(ALMS1):c.12438G>T (p.Arg4146=) rs35902379 0.00041
NM_002230.4(JUP):c.510G>A (p.Ser170=) rs140539043 0.00041
NM_002857.4(PEX19):c.254C>T (p.Ala85Val) rs11550119 0.00041
NM_004260.4(RECQL4):c.1576C>T (p.Leu526Phe) rs200732690 0.00041
NM_004700.4(KCNQ4):c.946-12C>G rs146802754 0.00041
NM_004813.4(PEX16):c.149-6C>T rs78883829 0.00041
NM_013382.7(POMT2):c.656+16C>G rs200230662 0.00041
NM_014956.5(CEP164):c.1409+10G>A rs199783386 0.00041
NM_014956.5(CEP164):c.748G>A (p.Gly250Ser) rs146501105 0.00041
NM_015602.4(TOR1AIP1):c.531_532insTCA (p.Val177_Arg178insSer) rs145521179 0.00041
NM_021942.6(TRAPPC11):c.3092C>G (p.Pro1031Arg) rs200466260 0.00041
NM_024989.4(PGAP1):c.2734C>T (p.Pro912Ser) rs147312612 0.00041
NM_025132.4(WDR19):c.13+15G>A rs150633358 0.00041
NM_031471.6(FERMT3):c.206A>C (p.Lys69Thr) rs146932041 0.00041
NM_152443.3(RDH12):c.570C>T (p.Ser190=) rs79869437 0.00041
NM_201384.3(PLEC):c.5028C>T (p.Arg1676=) rs200727084 0.00041
NM_000466.3(PEX1):c.2718+3A>G rs370536529 0.00040
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642 0.00040
NM_001329943.3(KIAA0586):c.1129+11del rs142477754 0.00040
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp) rs200897773 0.00040
NM_004525.3(LRP2):c.6048C>T (p.Ala2016=) rs144449508 0.00040
NM_005529.7(HSPG2):c.4396-5C>T rs117917442 0.00040
NM_006005.3(WFS1):c.402G>A (p.Ala134=) rs199533137 0.00040
NM_015602.4(TOR1AIP1):c.948A>G (p.Pro316=) rs573163000 0.00040
NM_033028.5(BBS4):c.24+8C>T rs200055760 0.00040
NM_138694.4(PKHD1):c.7911+19T>C rs201017366 0.00040
NM_206933.4(USH2A):c.9340C>T (p.Pro3114Ser) rs201071654 0.00040
NM_000070.3(CAPN3):c.1643G>A (p.Arg548His) rs146309264 0.00039
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_001267550.2(TTN):c.10163G>A (p.Arg3388Gln) rs187703540 0.00039
NM_001267550.2(TTN):c.32197+11G>A rs369265969 0.00039
NM_001283009.2(RTEL1):c.2852-17C>T rs200335181 0.00039
NM_001329943.3(KIAA0586):c.3104G>A (p.Gly1035Asp) rs77860620 0.00039
NM_001384140.1(PCDH15):c.2884C>T (p.Arg962Cys) rs201816080 0.00039
NM_004836.7(EIF2AK3):c.2532T>C (p.Ser844=) rs56094918 0.00039
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val) rs144703991 0.00039
NM_022089.4(ATP13A2):c.3087C>T (p.Phe1029=) rs184878897 0.00039
NM_022336.4(EDAR):c.147G>A (p.Pro49=) rs149582563 0.00039
NM_022336.4(EDAR):c.960C>T (p.Ala320=) rs10432616 0.00039
NM_182961.4(SYNE1):c.12411C>T (p.His4137=) rs751325537 0.00039
NM_182961.4(SYNE1):c.19692+3G>A rs150304757 0.00039
NM_182961.4(SYNE1):c.6889G>A (p.Gly2297Arg) rs117184249 0.00039
NM_182961.4(SYNE1):c.7854C>T (p.Ser2618=) rs79449810 0.00039
NM_000057.4(BLM):c.816G>A (p.Lys272=) rs139295905 0.00038
NM_000302.4(PLOD1):c.1756-13C>T rs370882934 0.00038
NM_000492.4(CFTR):c.2620-6T>C rs371315682 0.00038
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112 0.00038
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=) rs201374999 0.00038
NM_001267550.2(TTN):c.180T>C (p.Asp60=) rs144750850 0.00038
NM_001267550.2(TTN):c.26694G>T (p.Gly8898=) rs199525540 0.00038
NM_001267550.2(TTN):c.69231T>C (p.Leu23077=) rs12615797 0.00038
NM_001378454.1(ALMS1):c.3307C>G (p.Pro1103Ala) rs200257398 0.00038
NM_002230.4(JUP):c.1807G>T (p.Val603Leu) rs200327969 0.00038
NM_002473.6(MYH9):c.2517G>A (p.Gln839=) rs34498733 0.00038
NM_006019.4(TCIRG1):c.154G>C (p.Val52Leu) rs118141250 0.00038
NM_006397.3(RNASEH2A):c.662A>G (p.Lys221Arg) rs143534021 0.00038
NM_006642.5(SDCCAG8):c.2067G>A (p.Leu689=) rs191821211 0.00038
NM_012414.4(RAB3GAP2):c.2807-15G>A rs200407685 0.00038
NM_015102.5(NPHP4):c.3045-5C>T rs2297790 0.00038
NM_018063.5(HELLS):c.153+10G>T rs187469615 0.00038
NM_018699.4(PRDM5):c.743+14G>A rs185567213 0.00038
NM_022098.4(XPNPEP3):c.-23C>T rs149610579 0.00038
NM_153717.3(EVC):c.1995G>A (p.Ser665=) rs142897994 0.00038
NM_176824.3(BBS7):c.1230+18T>C rs750801316 0.00038
NM_182961.4(SYNE1):c.9807+14C>G rs182453040 0.00038
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=) rs138596741 0.00037
NM_001171.6(ABCC6):c.2848G>A (p.Ala950Thr) rs72657689 0.00037
NM_001267550.2(TTN):c.12024C>T (p.Leu4008=) rs371694842 0.00037
NM_001329943.3(KIAA0586):c.4311A>G (p.Glu1437=) rs536603405 0.00037
NM_002180.3(IGHMBP2):c.2872A>G (p.Asn958Asp) rs141873613 0.00037
NM_005982.4(SIX1):c.615T>G (p.Pro205=) rs148433316 0.00037
NM_014780.4(CUL7):c.-269A>G rs377101095 0.00037
NM_014797.3(ZBTB24):c.14C>T (p.Ser5Leu) rs192918926 0.00037
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val) rs200512504 0.00037
NC_000009.12:g.34638237A>T rs148692127 0.00036
NM_000254.3(MTR):c.3712-7T>G rs151081130 0.00036
NM_001145809.2(MYH14):c.4753-5A>G rs118097099 0.00036
NM_001267550.2(TTN):c.79410G>A (p.Gly26470=) rs140942979 0.00036
NM_002109.6(HARS1):c.396+20C>T rs191205977 0.00036
NM_002230.4(JUP):c.633C>T (p.Asn211=) rs372145644 0.00036
NM_002292.4(LAMB2):c.3325G>A (p.Glu1109Lys) rs79677861 0.00036
NM_006642.5(SDCCAG8):c.798T>C (p.His266=) rs74586093 0.00036
NM_014780.5(CUL7):c.1542G>T (p.Gln514His) rs146808129 0.00036
NM_014956.5(CEP164):c.726C>T (p.His242=) rs549905287 0.00036
NM_024753.5(TTC21B):c.2815C>T (p.Arg939Trp) rs151227843 0.00036
NM_052989.3(IFT122):c.2625C>T (p.Asn875=) rs76572254 0.00036
NM_138694.4(PKHD1):c.333C>T (p.Phe111=) rs145815264 0.00036
NM_145861.4(EDARADD):c.*967A>G rs193138062 0.00036
NM_182961.4(SYNE1):c.15657+5T>A rs199779021 0.00036
NM_201384.3(PLEC):c.5673C>T (p.Ile1891=) rs191863619 0.00036
NM_000243.3(MEFV):c.1260+10C>T rs104895137 0.00035
NM_000277.3(PAH):c.969+20G>A rs201083544 0.00035
NM_001267550.2(TTN):c.32049A>G (p.Lys10683=) rs375408527 0.00035
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His) rs56071233 0.00035
NM_005881.4(BCKDK):c.1066A>T (p.Ser356Cys) rs142542453 0.00035
NM_013335.4(GMPPA):c.366C>G (p.Pro122=) rs186735505 0.00035
NM_014363.6(SACS):c.3144A>G (p.Val1048=) rs3751369 0.00035
NM_016464.5(TMEM138):c.216C>T (p.Asn72=) rs145939072 0.00035
NM_020964.3(EPG5):c.586G>A (p.Gly196Ser) rs565743896 0.00035
NM_022124.6(CDH23):c.5931T>C (p.Pro1977=) rs373457993 0.00035
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr) rs143979330 0.00035
NM_182961.4(SYNE1):c.17505C>T (p.Leu5835=) rs148731167 0.00035
NM_182961.4(SYNE1):c.22137C>T (p.Asp7379=) rs148556501 0.00035
NM_201384.3(PLEC):c.13344C>T (p.Asp4448=) rs192224737 0.00035
NM_000057.4(BLM):c.1467G>A (p.Arg489=) rs56257041 0.00034
NM_000180.4(GUCY2D):c.3225-10C>T rs200705417 0.00034
NM_000260.4(MYO7A):c.4757A>G (p.Asn1586Ser) rs201251963 0.00034
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=) rs192301957 0.00034
NM_000441.2(SLC26A4):c.1614+7A>G rs199643344 0.00034
NM_000466.3(PEX1):c.939T>C (p.His313=) rs199647157 0.00034
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val) rs1800091 0.00034
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_000553.6(WRN):c.2088+20A>G rs540283267 0.00034
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala) rs199500256 0.00034
NM_001081.4(CUBN):c.8671G>A (p.Val2891Ile) rs150488625 0.00034
NM_001161403.3(LIMS2):c.12-6739G>A rs763417527 0.00034
NM_001161403.3(LIMS2):c.621C>T (p.Gly207=) rs138162790 0.00034
NM_001194998.2(CEP152):c.2681C>T (p.Ser894Phe) rs145138194 0.00034
NM_001267550.2(TTN):c.55449C>T (p.Pro18483=) rs187366691 0.00034
NM_001267550.2(TTN):c.99866-10C>T rs773128928 0.00034
NM_002109.6(HARS1):c.40C>A (p.Gln14Lys) rs117579809 0.00034
NM_002109.6(HARS1):c.903C>T (p.Asp301=) rs146835587 0.00034
NM_002292.4(LAMB2):c.1305C>T (p.Ser435=) rs144530798 0.00034
NM_002857.4(PEX19):c.347-13T>A rs371091340 0.00034
NM_004525.3(LRP2):c.2511C>T (p.Ala837=) rs375313914 0.00034
NM_004525.3(LRP2):c.3434C>T (p.Ser1145Leu) rs140061784 0.00034
NM_005982.4(SIX1):c.402G>A (p.Lys134=) rs151189392 0.00034
NM_012448.4(STAT5B):c.1569G>A (p.Arg523=) rs143172354 0.00034
NM_014780.5(CUL7):c.3416T>C (p.Ile1139Thr) rs77965460 0.00034
NM_015046.7(SETX):c.7982A>G (p.Lys2661Arg) rs199921065 0.00034
NM_022089.4(ATP13A2):c.3314C>T (p.Pro1105Leu) rs201756175 0.00034
NM_024989.4(PGAP1):c.2100G>A (p.Leu700=) rs139927561 0.00034
NM_025132.4(WDR19):c.3249T>C (p.Asp1083=) rs371128500 0.00034
NM_030943.4(AMN):c.321T>C (p.Ser107=) rs563004567 0.00034
NM_031885.5(BBS2):c.2079G>A (p.Gln693=) rs150797250 0.00034
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596 0.00034
NM_147127.5(EVC2):c.1882G>A (p.Glu628Lys) rs186197620 0.00034
NM_147127.5(EVC2):c.2310G>T (p.Trp770Cys) rs572056540 0.00034
NM_198428.3(BBS9):c.1245C>T (p.Val415=) rs61764066 0.00034
NM_201384.3(PLEC):c.6162C>T (p.His2054=) rs563719398 0.00034
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln) rs111033409 0.00034
NM_000414.4(HSD17B4):c.1503+12T>G rs111239597 0.00033
NM_001128178.3(NPHP1):c.836C>T (p.Thr279Met) rs200201945 0.00033
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly) rs201057307 0.00033
NM_001267550.2(TTN):c.57770G>A (p.Arg19257Gln) rs202076328 0.00033
NM_001267550.2(TTN):c.67058-16C>T rs201800666 0.00033
NM_002485.5(NBN):c.425A>G (p.Asn142Ser) rs769414 0.00033
NM_015102.5(NPHP4):c.944C>T (p.Thr315Met) rs200684272 0.00033
NM_021942.6(TRAPPC11):c.2169C>G (p.Phe723Leu) rs146441514 0.00033
NM_025132.4(WDR19):c.2364-15_2364-14del rs555557314 0.00033
NM_138387.4(G6PC3):c.1035T>A (p.Ser345=) rs201244794 0.00033
NM_201384.3(PLEC):c.9186C>T (p.Ala3062=) rs377371180 0.00033
NM_000057.4(BLM):c.3041A>G (p.His1014Arg) rs145022945 0.00032
NM_000288.4(PEX7):c.94C>T (p.Leu32=) rs886061118 0.00032
NM_001267550.2(TTN):c.9789C>T (p.Ser3263=) rs138313387 0.00032
NM_001283009.2(RTEL1):c.1260C>T (p.Ser420=) rs188479221 0.00032
NM_001283009.2(RTEL1):c.2146G>A (p.Ala716Thr) rs200003693 0.00032
NM_001283009.2(RTEL1):c.372C>T (p.Asn124=) rs61736622 0.00032
NM_024989.4(PGAP1):c.2630+15T>C rs375452864 0.00032
NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser) rs191613017 0.00032
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256 0.00031
NM_000180.4(GUCY2D):c.615C>A (p.Leu205=) rs568227769 0.00031
NM_000260.4(MYO7A):c.448C>A (p.Arg150=) rs121965079 0.00031
NM_001267550.2(TTN):c.14898T>C (p.Ala4966=) rs370105333 0.00031
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=) rs139953862 0.00031
NM_001283009.2(RTEL1):c.1267-17G>A rs558289937 0.00031
NM_001378454.1(ALMS1):c.1338+19A>G rs145633676 0.00031
NM_002292.4(LAMB2):c.4928A>G (p.Gln1643Arg) rs201844235 0.00031
NM_003619.4(PRSS12):c.1144C>T (p.Leu382=) rs146677360 0.00031
NM_004004.6(GJB2):c.499G>A (p.Val167Met) rs111033360 0.00031
NM_005982.4(SIX1):c.162G>A (p.Ala54=) rs150550985 0.00031
NM_006397.3(RNASEH2A):c.411+17T>A rs185730742 0.00031
NM_006432.5(NPC2):c.273T>C (p.Asp91=) rs151071820 0.00031
NM_020964.3(EPG5):c.3984-20C>G rs143737072 0.00031
NM_022089.4(ATP13A2):c.1128C>T (p.Cys376=) rs148970081 0.00031
NM_022168.4(IFIH1):c.103C>T (p.Leu35=) rs75342243 0.00031
NM_022168.4(IFIH1):c.2392A>G (p.Ile798Val) rs758387388 0.00031
NM_024753.5(TTC21B):c.3914A>G (p.Asp1305Gly) rs147540469 0.00031
NM_025114.4(CEP290):c.5226+19T>C rs547955106 0.00031
NM_170784.3(MKKS):c.416G>A (p.Arg139Gln) rs145045986 0.00031
NM_201384.3(PLEC):c.2536G>A (p.Gly846Ser) rs189233521 0.00031
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp) rs145278250 0.00031
NM_000260.4(MYO7A):c.324C>T (p.Tyr108=) rs116892396 0.00030
NM_000271.5(NPC1):c.3717C>T (p.His1239=) rs34624018 0.00030
NM_001077365.2(POMT1):c.1175+16G>A rs371908251 0.00030
NM_001267550.2(TTN):c.24506-16T>C rs200319727 0.00030
NM_001267550.2(TTN):c.39057G>A (p.Pro13019=) rs371945519 0.00030
NM_001267550.2(TTN):c.80271C>T (p.Val26757=) rs199875474 0.00030
NM_001267550.2(TTN):c.94863C>T (p.His31621=) rs373871146 0.00030
NM_001283009.2(RTEL1):c.1018G>A (p.Gly340Ser) rs145845927 0.00030
NM_001283009.2(RTEL1):c.2965C>T (p.Arg989Trp) rs139221232 0.00030
NM_002292.4(LAMB2):c.2095G>C (p.Gly699Arg) rs28364667 0.00030
NM_002473.6(MYH9):c.*906G>T rs192511111 0.00030
NM_002485.5(NBN):c.1690G>A (p.Glu564Lys) rs72550742 0.00030
NM_005219.5(DIAPH1):c.2032C>T (p.Pro678Ser) rs186370335 0.00030
NM_016356.5(DCDC2):c.478A>C (p.Arg160=) rs201204772 0.00030
NM_020458.4(TTC7A):c.1204-9C>T rs574765911 0.00030
NM_000287.4(PEX6):c.25C>T (p.Leu9=) rs183449855 0.00029
NM_001023570.4(IQCB1):c.987-17C>T rs187649158 0.00029
NM_001042472.3(ABHD12):c.1176G>A (p.Ser392=) rs184232860 0.00029
NM_001077365.2(POMT1):c.1698+10C>A rs184131819 0.00029
NM_001184.4(ATR):c.325C>T (p.Arg109Trp) rs146405935 0.00029
NM_001267550.2(TTN):c.10608G>A (p.Gln3536=) rs371651343 0.00029
NM_001267550.2(TTN):c.4645+8G>T rs144456585 0.00029
NM_001267550.2(TTN):c.49944G>A (p.Lys16648=) rs190021597 0.00029
NM_001267550.2(TTN):c.52008C>G (p.Val17336=) rs144507270 0.00029
NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr) rs201804005 0.00029
NM_001329943.3(KIAA0586):c.2735C>T (p.Pro912Leu) rs139493302 0.00029
NM_001366722.1(GRIP1):c.1199-7C>G rs200313638 0.00029
NM_001366722.1(GRIP1):c.692C>T (p.Ala231Val) rs150958775 0.00029
NM_001379286.1(ZNF423):c.3012C>G (p.Pro1004=) rs200127497 0.00029
NM_001379286.1(ZNF423):c.630C>T (p.Ala210=) rs186529267 0.00029
NM_001384474.1(LOXHD1):c.5400-3C>T rs528236655 0.00029
NM_001614.5(ACTG1):c.126C>T (p.Gly42=) rs11549197 0.00029
NM_002292.4(LAMB2):c.4370G>A (p.Arg1457Gln) rs148818522 0.00029
NM_014797.3(ZBTB24):c.1204+5G>A rs80351559 0.00029
NM_015311.3(OBSL1):c.1599G>A (p.Thr533=) rs149009269 0.00029
NM_018972.4(GDAP1):c.*1429A>G rs78545774 0.00029
NM_020964.3(EPG5):c.1461C>T (p.Pro487=) rs142675465 0.00029
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val) rs201475055 0.00029
NM_024649.5(BBS1):c.1695+10G>A rs200276861 0.00029
NM_025114.4(CEP290):c.6078A>G (p.Gln2026=) rs763570903 0.00029
NM_025216.3(WNT10A):c.756+14C>T rs200733269 0.00029
NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu) rs150597050 0.00029
NM_139343.3(BIN1):c.1674+20G>A rs374227714 0.00029
NM_182961.4(SYNE1):c.16110C>A (p.His5370Gln) rs138277154 0.00029
NM_182961.4(SYNE1):c.18870C>T (p.Ser6290=) rs138173087 0.00029
NM_201384.3(PLEC):c.4707G>A (p.Thr1569=) rs398123398 0.00029
NM_206933.4(USH2A):c.3320T>G (p.Ile1107Ser) rs146372677 0.00029
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598 0.00028
NM_000492.4(CFTR):c.1584+12T>C rs193922502 0.00028
NM_000553.6(WRN):c.1909C>T (p.Arg637Trp) rs148286708 0.00028
NM_000553.6(WRN):c.210-17T>G rs368380436 0.00028
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu) rs185962498 0.00028
NM_001267550.2(TTN):c.25064-11del rs778596216 0.00028
NM_001267550.2(TTN):c.28463-14G>A rs200917885 0.00028
NM_001267550.2(TTN):c.38378A>G (p.Lys12793Arg) rs189389531 0.00028
NM_001267550.2(TTN):c.4359A>T (p.Arg1453Ser) rs376857956 0.00028
NM_001267550.2(TTN):c.49200G>A (p.Lys16400=) rs539513077 0.00028
NM_001386140.1(MTTP):c.111G>A (p.Thr37=) rs147921439 0.00028
NM_001614.5(ACTG1):c.1113C>T (p.His371=) rs117765323 0.00028
NM_015102.5(NPHP4):c.138C>T (p.Gly46=) rs201069164 0.00028
NM_015102.5(NPHP4):c.3705C>T (p.Arg1235=) rs199925943 0.00028
NM_016464.5(TMEM138):c.327C>T (p.Ser109=) rs201318247 0.00028
NM_020631.6(PLEKHG5):c.2751G>A (p.Gln917=) rs370666430 0.00028
NM_020964.3(EPG5):c.5618A>T (p.Glu1873Val) rs148241618 0.00028
NM_022168.4(IFIH1):c.2016del (p.Asp673fs) rs773033563 0.00028
NM_000023.4(SGCA):c.662G>A (p.Arg221His) rs138254713 0.00027
NM_000070.3(CAPN3):c.310-20A>C rs537236363 0.00027
NM_000360.4(TH):c.627C>G (p.Ile209Met) rs202149985 0.00027
NM_001267550.2(TTN):c.40223-15C>G rs200619085 0.00027
NM_001267550.2(TTN):c.62511T>C (p.Ser20837=) rs369467841 0.00027
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_006846.4(SPINK5):c.738C>T (p.Val246=) rs149544665 0.00027
NM_006892.4(DNMT3B):c.2445C>T (p.Tyr815=) rs560320736 0.00027
NM_006892.4(DNMT3B):c.42C>T (p.Ala14=) rs730823 0.00027
NM_013382.7(POMT2):c.66C>T (p.Gly22=) rs200670377 0.00027
NM_015311.3(OBSL1):c.3604G>A (p.Ala1202Thr) rs201887372 0.00027
NM_020458.4(TTC7A):c.517+11G>A rs199559356 0.00027
NM_025132.4(WDR19):c.1039C>T (p.Leu347=) rs201958863 0.00027
NM_178170.3(NEK8):c.1770C>T (p.His590=) rs183536507 0.00027
NM_182961.4(SYNE1):c.12529-12G>A rs367782368 0.00027
NM_182961.4(SYNE1):c.3396-17T>A rs144838502 0.00027
NM_182961.4(SYNE1):c.9420G>A (p.Ala3140=) rs188913729 0.00027
NM_201384.3(PLEC):c.2901G>T (p.Gln967His) rs781913031 0.00027
NM_000057.4(BLM):c.191A>T (p.Asp64Val) rs140382474 0.00026
NM_000211.5(ITGB2):c.*121C>T rs375146934 0.00026
NM_000232.5(SGCB):c.243+6T>A rs146888744 0.00026
NM_000254.3(MTR):c.3583A>G (p.Ile1195Val) rs149476106 0.00026
NM_000441.2(SLC26A4):c.2236-25T>A rs2301634 0.00026
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr) rs141723617 0.00026
NM_000553.6(WRN):c.1530A>T (p.Glu510Asp) rs149565907 0.00026
NM_001048174.2(MUTYH):c.-6-14T>A rs587781284 0.00026
NM_001267550.2(TTN):c.25809G>A (p.Ser8603=) rs369099681 0.00026
NM_001267550.2(TTN):c.65534C>T (p.Pro21845Leu) rs201662134 0.00026
NM_001267550.2(TTN):c.79941A>G (p.Gln26647=) rs72648208 0.00026
NM_001267550.2(TTN):c.91425C>T (p.Asp30475=) rs145133144 0.00026
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=) rs373206096 0.00026
NM_001329943.3(KIAA0586):c.202T>A (p.Ser68Thr) rs147119902 0.00026
NM_001367624.2(ZNF469):c.11137C>T (p.Arg3713Cys) rs748126365 0.00026
NM_001367624.2(ZNF469):c.6179C>A (p.Ser2060Tyr) rs273585623 0.00026
NM_002180.3(IGHMBP2):c.1581C>T (p.Asp527=) rs149736203 0.00026
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866 0.00026
NM_005422.4(TECTA):c.1651G>A (p.Val551Met) rs200857366 0.00026
NM_005422.4(TECTA):c.4315C>A (p.Leu1439Ile) rs202199158 0.00026
NM_006014.5(LAGE3):c.362T>C (p.Ile121Thr) rs146063259 0.00026
NM_013382.7(POMT2):c.1944A>G (p.Thr648=) rs148146976 0.00026
NM_015046.7(SETX):c.2446A>G (p.Thr816Ala) rs369470593 0.00026
NM_015046.7(SETX):c.4090A>G (p.Arg1364Gly) rs142134306 0.00026
NM_015102.5(NPHP4):c.1089G>T (p.Val363=) rs201464887 0.00026
NM_015474.4(SAMHD1):c.1692C>T (p.Ala564=) rs200856791 0.00026
NM_018965.4(TREM2):c.668C>T (p.Thr223Ile) rs138355759 0.00026
NM_138694.4(PKHD1):c.11400G>A (p.Gly3800=) rs149427926 0.00026
NM_144596.4(TTC8):c.669G>A (p.Lys223=) rs141304350 0.00026
NM_182961.4(SYNE1):c.25146C>T (p.Ser8382=) rs151034170 0.00026
NM_201384.3(PLEC):c.252G>A (p.Ser84=) rs570408268 0.00026
NM_000057.4(BLM):c.1883-19A>C rs200507632 0.00025
NM_000057.4(BLM):c.2838A>G (p.Thr946=) rs200850440 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_006019.4(TCIRG1):c.2193C>T (p.Thr731=) rs141601593 0.00025
NM_006765.4(TUSC3):c.1028+11T>C rs187670751 0.00025
NM_006892.4(DNMT3B):c.1923A>G (p.Pro641=) rs555058105 0.00025
NM_012448.4(STAT5B):c.1725C>T (p.Asp575=) rs75130700 0.00025
NM_015102.5(NPHP4):c.1632C>T (p.Ala544=) rs201903713 0.00025
NM_024570.4(RNASEH2B):c.788C>G (p.Thr263Ser) rs183734174 0.00025
NM_025216.3(WNT10A):c.234C>T (p.His78=) rs199802454 0.00025
NM_138694.4(PKHD1):c.130+9G>A rs367608402 0.00025
NM_138694.4(PKHD1):c.9493G>A (p.Val3165Met) rs199621305 0.00025
NM_152618.3(BBS12):c.1257C>T (p.Ser419=) rs34652786 0.00025
NM_178170.3(NEK8):c.2001G>A (p.Thr667=) rs192081177 0.00025
NM_182961.4(SYNE1):c.1838C>T (p.Ser613Phe) rs140135976 0.00025
NM_182961.4(SYNE1):c.23791-13C>T rs371245873 0.00025
NM_201384.3(PLEC):c.4221G>A (p.Ala1407=) rs185790521 0.00025
NM_000180.4(GUCY2D):c.2577-15G>A rs199708312 0.00024
NM_000211.5(ITGB2):c.847G>A (p.Asp283Asn) rs149483341 0.00024
NM_000466.3(PEX1):c.3526G>T (p.Val1176Leu) rs200059929 0.00024
NM_001267550.2(TTN):c.15552C>T (p.Thr5184=) rs146353237 0.00024
NM_001267550.2(TTN):c.17740+17T>C rs369532031 0.00024
NM_001267550.2(TTN):c.35875+8T>G rs192408585 0.00024
NM_001267550.2(TTN):c.68082C>T (p.Cys22694=) rs79406408 0.00024
NM_001283009.2(RTEL1):c.3090G>A (p.Ser1030=) rs187238540 0.00024
NM_002292.4(LAMB2):c.101C>A (p.Ala34Asp) rs202057459 0.00024
NM_004565.3(PEX14):c.84+17T>C rs373584636 0.00024
NM_005529.7(HSPG2):c.468G>A (p.Ala156=) rs113464689 0.00024
NM_014780.5(CUL7):c.4261A>G (p.Thr1421Ala) rs191578513 0.00024
NM_015046.7(SETX):c.5346C>T (p.Ala1782=) rs115071007 0.00024
NM_015910.7(WDPCP):c.480C>T (p.Ile160=) rs768777510 0.00024
NM_016219.5(MAN1B1):c.1445+19C>T rs374413288 0.00024
NM_018294.6(CWF19L1):c.940C>T (p.His314Tyr) rs151250620 0.00024
NM_022098.4(XPNPEP3):c.1357+19A>G rs139881907 0.00024
NM_031885.5(BBS2):c.1080+14C>T rs375468475 0.00024
NM_033028.5(BBS4):c.459+14G>C rs200810799 0.00024
NM_138694.4(PKHD1):c.1257C>T (p.Val419=) rs374650666 0.00024
NM_144596.4(TTC8):c.909+18T>C rs111707320 0.00024
NM_153240.5(NPHP3):c.1629-17C>A rs145056102 0.00024
NM_178170.3(NEK8):c.1938A>C (p.Gly646=) rs138629865 0.00024
NM_182961.4(SYNE1):c.24977-1702G>A rs767684285 0.00024
NM_000057.4(BLM):c.4220G>A (p.Arg1407Lys) rs557057587 0.00023
NM_000360.4(TH):c.1368C>T (p.Ser456=) rs45538536 0.00023
NM_000543.5(SMPD1):c.1626A>C (p.Arg542=) rs774163596 0.00023
NM_001267550.2(TTN):c.51678C>T (p.Asn17226=) rs372635204 0.00023
NM_001614.5(ACTG1):c.546C>T (p.Gly182=) rs61997063 0.00023
NM_002230.4(JUP):c.546G>A (p.Ser182=) rs202038498 0.00023
NM_006892.4(DNMT3B):c.1211A>G (p.Tyr404Cys) rs143462810 0.00023
NM_022124.6(CDH23):c.2572G>A (p.Val858Ile) rs181275139 0.00023
NM_138694.4(PKHD1):c.3761C>G (p.Ala1254Gly) rs148901752 0.00023
NM_201384.3(PLEC):c.3756+13C>T rs201040617 0.00023
NM_000466.3(PEX1):c.1725G>A (p.Leu575=) rs150667796 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.33826+17T>A rs199586235 0.00022
NM_001267550.2(TTN):c.96015C>T (p.Pro32005=) rs183620684 0.00022
NM_001378454.1(ALMS1):c.2536G>A (p.Gly846Arg) rs201154998 0.00022
NM_001384474.1(LOXHD1):c.1970+9G>A rs532438706 0.00022
NM_002618.4(PEX13):c.142C>T (p.Leu48Phe) rs60203778 0.00022
NM_003896.4(ST3GAL5):c.465G>A (p.Glu155=) rs199590656 0.00022
NM_013335.4(GMPPA):c.242+19G>A rs201263031 0.00022
NM_015046.7(SETX):c.4520A>C (p.Asp1507Ala) rs138195434 0.00022
NM_015102.5(NPHP4):c.3145C>T (p.Pro1049Ser) rs759609852 0.00022
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His) rs148348866 0.00022
NM_020458.4(TTC7A):c.2397G>A (p.Gln799=) rs139056071 0.00022
NM_022168.4(IFIH1):c.1623T>C (p.Ile541=) rs200947696 0.00022
NM_025114.4(CEP290):c.3574-15T>A rs565414938 0.00022
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467 0.00022
NM_033028.5(BBS4):c.1107-14T>G rs185052338 0.00022
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr) rs147351244 0.00022
NM_178170.3(NEK8):c.1897G>A (p.Glu633Lys) rs201548032 0.00022
NM_000083.3(CLCN1):c.804G>A (p.Thr268=) rs141521078 0.00021
NM_000180.4(GUCY2D):c.1026+6C>T rs147410617 0.00021
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987 0.00021
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995 0.00021
NM_000466.3(PEX1):c.1268A>G (p.Asn423Ser) rs200857848 0.00021
NM_000553.6(WRN):c.3820-12A>G rs374684032 0.00021
NM_001040167.2(LFNG):c.920G>A (p.Arg307His) rs201791522 0.00021
NM_001130987.2(DYSF):c.3267C>T (p.Tyr1089=) rs150355624 0.00021
NM_001199107.2(TBC1D24):c.1074C>T (p.Pro358=) rs75961715 0.00021
NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn) rs201263441 0.00021
NM_001382391.1(CSPP1):c.46T>C (p.Leu16=) rs150924296 0.00021
NM_001614.5(ACTG1):c.345C>T (p.Asn115=) rs149057480 0.00021
NM_002473.6(MYH9):c.18C>T (p.Ala6=) rs141055332 0.00021
NM_004565.3(PEX14):c.400C>G (p.Leu134Val) rs140476337 0.00021
NM_017791.3(FLVCR2):c.*910C>A rs549933844 0.00021
NM_020458.4(TTC7A):c.2454C>T (p.Gly818=) rs200783396 0.00021
NM_020631.6(PLEKHG5):c.34C>A (p.Pro12Thr) rs140687324 0.00021
NM_020751.3(COG6):c.1827-4A>G rs375878630 0.00021
NM_022168.4(IFIH1):c.1093A>G (p.Lys365Glu) rs117608083 0.00021
NM_022168.4(IFIH1):c.1642-20A>C rs191343755 0.00021
NM_022168.4(IFIH1):c.453+5G>C rs548027236 0.00021
NM_052989.3(IFT122):c.1533G>A (p.Leu511=) rs183614690 0.00021
NM_173551.5(ANKS6):c.908-16C>T rs375604399 0.00021
NM_182961.4(SYNE1):c.26298A>G (p.Pro8766=) rs200880341 0.00021
NM_201384.3(PLEC):c.2140A>G (p.Ile714Val) rs189137260 0.00021
NM_201384.3(PLEC):c.4101C>T (p.Ala1367=) rs376065732 0.00021
NM_206933.4(USH2A):c.5844T>C (p.Arg1948=) rs147930567 0.00021
NM_207361.6(FREM2):c.2180G>A (p.Arg727His) rs201714905 0.00021
NM_001278293.3(ARL6):c.192A>G (p.Ser64=) rs140114162 0.00020
NM_013335.4(GMPPA):c.495G>A (p.Leu165=) rs181901772 0.00020
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu) rs534886444 0.00020
NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly) rs117898549 0.00020
NM_020964.3(EPG5):c.6078C>A (p.Ala2026=) rs368663653 0.00020
NM_022464.5(SIL1):c.1232G>A (p.Arg411His) rs192255604 0.00020
NM_206933.4(USH2A):c.10062G>C (p.Val3354=) rs200172376 0.00020
NM_206933.4(USH2A):c.10510C>G (p.Pro3504Ala) rs200372118 0.00020
NM_000211.5(ITGB2):c.1146C>T (p.Tyr382=) rs61737080 0.00019
NM_000211.5(ITGB2):c.123C>T (p.Pro41=) rs375907746 0.00019
NM_000271.5(NPC1):c.3477+19T>C rs375942184 0.00019
NM_000277.3(PAH):c.399T>C (p.Asn133=) rs145692106 0.00019
NM_000287.4(PEX6):c.2531T>C (p.Val844Ala) rs187435179 0.00019
NM_000337.6(SGCD):c.699+18C>G rs180898690 0.00019
NM_000492.4(CFTR):c.3963+69A>G rs540577876 0.00019
NM_000506.5(F2):c.798C>T (p.Asp266=) rs138260543 0.00019
NM_001040167.2(LFNG):c.988-12C>T rs200232463 0.00019
NM_001077418.3(TMEM231):c.140-28C>G rs375353411 0.00019
NM_001101426.4(CRPPA):c.876A>G (p.Glu292=) rs371300262 0.00019
NM_001111.5(ADAR):c.1887C>G (p.Ser629=) rs747820726 0.00019
NM_001122769.3(LCA5):c.1097T>C (p.Leu366Ser) rs200988021 0.00019
NM_001199107.2(TBC1D24):c.663C>T (p.Pro221=) rs148670169 0.00019
NM_001267550.2(TTN):c.39127+10A>C rs397517554 0.00019
NM_001267550.2(TTN):c.39616C>T (p.Pro13206Ser) rs186404793 0.00019
NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile) rs374620001 0.00019
NM_001267550.2(TTN):c.86052T>C (p.Thr28684=) rs76928874 0.00019
NM_001267550.2(TTN):c.9338G>A (p.Arg3113His) rs141258018 0.00019
NM_001267550.2(TTN):c.97578C>T (p.Asp32526=) rs142907833 0.00019
NM_001378615.1(CC2D2A):c.2882T>C (p.Ile961Thr) rs76626268 0.00019
NM_001614.5(ACTG1):c.159C>T (p.Tyr53=) rs139751304 0.00019
NM_001614.5(ACTG1):c.803-3T>C rs369438865 0.00019
NM_002180.3(IGHMBP2):c.366C>T (p.His122=) rs144401213 0.00019
NM_002230.4(JUP):c.1941C>T (p.Ala647=) rs368865601 0.00019
NM_002485.5(NBN):c.2220T>C (p.Ala740=) rs147494981 0.00019
NM_015046.7(SETX):c.7991T>C (p.Leu2664Pro) rs143798689 0.00019
NM_015102.5(NPHP4):c.1120-13G>T rs192450719 0.00019
NM_015102.5(NPHP4):c.3044+20C>T rs372051668 0.00019
NM_016938.5(EFEMP2):c.977G>A (p.Arg326His) rs141868759 0.00019
NM_020964.3(EPG5):c.7009+20C>T rs367613516 0.00019
NM_022168.4(IFIH1):c.2682G>A (p.Lys894=) rs374488772 0.00019
NM_022336.4(EDAR):c.1305G>A (p.Ala435=) rs564195922 0.00019
NM_022336.4(EDAR):c.207C>T (p.Tyr69=) rs147059377 0.00019
NM_025132.4(WDR19):c.1595T>C (p.Ile532Thr) rs749672769 0.00019
NM_031471.6(FERMT3):c.1430G>A (p.Arg477His) rs199749996 0.00019
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe) rs193030567 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_139319.3(SLC17A8):c.723G>A (p.Leu241=) rs11568545 0.00019
NM_147127.5(EVC2):c.3413C>T (p.Thr1138Met) rs182298453 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_182961.4(SYNE1):c.7030-16T>C rs202040448 0.00019
NM_201384.3(PLEC):c.12216C>T (p.Phe4072=) rs150427959 0.00019
NM_001267550.2(TTN):c.25209T>C (p.Asp8403=) rs569860898 0.00018
NM_001267550.2(TTN):c.55512C>T (p.Asp18504=) rs377164046 0.00018
NM_001378454.1(ALMS1):c.74_75insGG (p.Glu27fs) rs1553396120 0.00018
NM_002230.4(JUP):c.1377G>T (p.Leu459=) rs147370522 0.00018
NM_002230.4(JUP):c.426C>T (p.Arg142=) rs142599474 0.00018
NM_002617.4(PEX10):c.27G>A (p.Pro9=) rs559431523 0.00018
NM_005219.5(DIAPH1):c.200C>T (p.Ala67Val) rs142480526 0.00018
NM_006765.4(TUSC3):c.568-15A>G rs186717319 0.00018
NM_006892.4(DNMT3B):c.307-15C>G rs150718732 0.00018
NM_014956.5(CEP164):c.687+15C>T rs200387177 0.00018
NM_022124.6(CDH23):c.68-3C>T rs142456469 0.00018
NM_025216.3(WNT10A):c.534A>G (p.Gln178=) rs746227205 0.00018
NM_139343.3(BIN1):c.316-19G>A rs369840788 0.00018
NM_000165.5(GJA1):c.309A>G (p.Glu103=) rs544249730 0.00017
NM_000360.4(TH):c.1047+16G>A rs372706117 0.00017
NM_000360.4(TH):c.679G>A (p.Glu227Lys) rs536382000 0.00017
NM_001040167.2(LFNG):c.822-9C>G rs199661195 0.00017
NM_001111.5(ADAR):c.2496+9G>A rs199698434 0.00017
NM_001267550.2(TTN):c.1709C>T (p.Ala570Val) rs146690035 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_001267550.2(TTN):c.68527+15G>A rs184043128 0.00017
NM_001614.5(ACTG1):c.870C>T (p.Arg290=) rs565983582 0.00017
NM_005422.4(TECTA):c.4061C>T (p.Thr1354Ile) rs148440178 0.00017
NM_005529.7(HSPG2):c.3708G>A (p.Ala1236=) rs202214491 0.00017
NM_006208.3(ENPP1):c.*2737C>T rs545095322 0.00017
NM_012210.4(TRIM32):c.770C>G (p.Thr257Arg) rs3747834 0.00017
NM_014956.5(CEP164):c.2920A>G (p.Thr974Ala) rs56699807 0.00017
NM_015102.5(NPHP4):c.2445G>A (p.Ser815=) rs764367617 0.00017
NM_015102.5(NPHP4):c.2716C>T (p.Arg906Cys) rs199992272 0.00017
NM_025114.4(CEP290):c.384T>C (p.Asp128=) rs76267039 0.00017
NM_033028.5(BBS4):c.1440G>A (p.Thr480=) rs148682268 0.00017
NM_147127.5(EVC2):c.1341C>T (p.Tyr447=) rs186349183 0.00017
NM_182961.4(SYNE1):c.582-9A>G rs200412221 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_000180.4(GUCY2D):c.3246C>T (p.Ser1082=) rs374580575 0.00016
NM_000243.3(MEFV):c.297C>T (p.Asn99=) rs104895175 0.00016
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu) rs142899308 0.00016
NM_000360.4(TH):c.576+13C>T rs369163325 0.00016
NM_000466.3(PEX1):c.3439-16A>G rs563019269 0.00016
NM_000784.4(CYP27A1):c.1184+9G>T rs200457116 0.00016
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=) rs142623022 0.00016
NM_001044385.3(TMEM237):c.869+10A>G rs376868416 0.00016
NM_001127671.2(LIFR):c.774T>C (p.Asp258=) rs761633332 0.00016
NM_001199107.2(TBC1D24):c.1207-16C>G rs201618854 0.00016
NM_001267550.2(TTN):c.18407G>A (p.Arg6136Gln) rs117551279 0.00016
NM_001267550.2(TTN):c.20772G>A (p.Lys6924=) rs369993514 0.00016
NM_001267550.2(TTN):c.28547G>A (p.Arg9516His) rs374156904 0.00016
NM_001267550.2(TTN):c.37956G>T (p.Val12652=) rs541757326 0.00016
NM_001267550.2(TTN):c.40515G>A (p.Pro13505=) rs367958537 0.00016
NM_001267550.2(TTN):c.99969C>T (p.Ile33323=) rs375403439 0.00016
NM_001283009.2(RTEL1):c.1830C>T (p.Ala610=) rs140738232 0.00016
NM_001283009.2(RTEL1):c.2612C>T (p.Pro871Leu) rs144002969 0.00016
NM_001379286.1(ZNF423):c.1827C>T (p.Ala609=) rs376118736 0.00016
NM_001614.5(ACTG1):c.978G>A (p.Lys326=) rs139339869 0.00016
NM_002160.4(TNC):c.2120G>C (p.Arg707Thr) rs146640511 0.00016
NM_002230.4(JUP):c.527G>A (p.Arg176Gln) rs144171604 0.00016
NM_002292.4(LAMB2):c.4878G>A (p.Arg1626=) rs148648480 0.00016
NM_002454.3(MTRR):c.463A>C (p.Arg155=) rs556611332 0.00016
NM_002700.3(POU4F3):c.792C>T (p.Ser264=) rs149975083 0.00016
NM_003384.3(VRK1):c.710-13C>T rs374386994 0.00016
NM_004700.4(KCNQ4):c.1325T>C (p.Met442Thr) rs142453905 0.00016
NM_006118.4(HAX1):c.514G>A (p.Val172Ile) rs141970914 0.00016
NM_006736.6(DNAJB2):c.65+15A>T rs140751061 0.00016
NM_006892.4(DNMT3B):c.1126+15T>C rs150368389 0.00016
NM_015046.7(SETX):c.1066G>A (p.Val356Ile) rs143270460 0.00016
NM_015046.7(SETX):c.498+14T>C rs753336459 0.00016
NM_015046.7(SETX):c.6013G>A (p.Val2005Met) rs148568105 0.00016
NM_015046.7(SETX):c.7195A>G (p.Ile2399Val) rs150489999 0.00016
NM_015102.5(NPHP4):c.3777G>A (p.Arg1259=) rs369566680 0.00016
NM_015102.5(NPHP4):c.3817-20C>T rs573999865 0.00016
NM_022168.4(IFIH1):c.2454+9A>G rs193149001 0.00016
NM_024989.4(PGAP1):c.2467C>G (p.Leu823Val) rs138036688 0.00016
NM_025114.4(CEP290):c.3955T>C (p.Leu1319=) rs182851622 0.00016
NM_031471.6(FERMT3):c.1393G>A (p.Glu465Lys) rs373999037 0.00016
NM_032492.4(JAGN1):c.90-19C>T rs201733831 0.00016
NM_052989.3(IFT122):c.1009-14C>T rs202155515 0.00016
NM_178170.3(NEK8):c.582C>T (p.Tyr194=) rs201773965 0.00016
NM_201384.3(PLEC):c.1284A>G (p.Ala428=) rs189174850 0.00016
NM_201384.3(PLEC):c.2535C>T (p.Ser845=) rs199721954 0.00016
NM_206933.4(USH2A):c.6186A>C (p.Pro2062=) rs200247886 0.00016
NM_000057.4(BLM):c.274A>G (p.Asn92Asp) rs200690226 0.00015
NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp) rs185031797 0.00015
NM_000243.3(MEFV):c.1261-28A>G rs104895140 0.00015
NM_001023570.4(IQCB1):c.1311A>G (p.Lys437=) rs142536967 0.00015
NM_001023570.4(IQCB1):c.588-5A>G rs370451583 0.00015
NM_001127649.3(PEX26):c.882A>G (p.Ala294=) rs751507771 0.00015
NM_001127671.2(LIFR):c.143-39C>G rs62355820 0.00015
NM_001184.4(ATR):c.4641+9A>G rs369284360 0.00015
NM_001267550.2(TTN):c.97859C>T (p.Ala32620Val) rs397517772 0.00015
NM_001329943.3(KIAA0586):c.1240G>A (p.Glu414Lys) rs147844088 0.00015
NM_015046.7(SETX):c.1869A>C (p.Glu623Asp) rs139200312 0.00015
NM_016219.5(MAN1B1):c.587G>A (p.Arg196His) rs200410163 0.00015
NM_018389.5(SLC35C1):c.226G>A (p.Val76Ile) rs200202916 0.00015
NM_020964.3(EPG5):c.5308G>A (p.Asp1770Asn) rs554975133 0.00015
NM_020964.3(EPG5):c.7368C>T (p.Leu2456=) rs148229334 0.00015
NM_022168.4(IFIH1):c.2239G>A (p.Val747Ile) rs200389061 0.00015
NM_033028.5(BBS4):c.1215C>G (p.Leu405=) rs3759869 0.00015
NM_145861.4(EDARADD):c.*1722C>T rs559506851 0.00015
NM_153240.5(NPHP3):c.3126-8T>G rs201592109 0.00015
NM_182961.4(SYNE1):c.6648C>T (p.Cys2216=) rs185829704 0.00015
NM_201384.3(PLEC):c.10551G>A (p.Thr3517=) rs116901140 0.00015
NM_201384.3(PLEC):c.5520C>T (p.Ala1840=) rs374790646 0.00015
NM_201384.3(PLEC):c.6156G>A (p.Lys2052=) rs782488625 0.00015
NM_000019.4(ACAT1):c.858G>A (p.Leu286=) rs143892373 0.00014
NM_000211.5(ITGB2):c.504C>T (p.Phe168=) rs143576179 0.00014
NM_000231.3(SGCG):c.579-17T>G rs368025607 0.00014
NM_000243.3(MEFV):c.331G>A (p.Gly111Arg) rs112739451 0.00014
NM_000414.4(HSD17B4):c.1767+8T>C rs190659146 0.00014
NM_000543.5(SMPD1):c.56A>G (p.Gln19Arg) rs144465428 0.00014
NM_001017420.3(ESCO2):c.147C>G (p.Cys49Trp) rs201989984 0.00014
NM_001017420.3(ESCO2):c.1674-4T>C rs750703352 0.00014
NM_001111.5(ADAR):c.2497-15C>T rs113249520 0.00014
NM_001161403.3(LIMS2):c.765C>T (p.Asp255=) rs199994172 0.00014
NM_001267550.2(TTN):c.102561C>T (p.Tyr34187=) rs375625664 0.00014
NM_001267550.2(TTN):c.103053C>T (p.Thr34351=) rs3731753 0.00014
NM_001267550.2(TTN):c.28678G>A (p.Asp9560Asn) rs771843862 0.00014
NM_001267550.2(TTN):c.30888A>G (p.Lys10296=) rs587780978 0.00014
NM_001267550.2(TTN):c.46800A>G (p.Glu15600=) rs190058852 0.00014
NM_001267550.2(TTN):c.59282A>G (p.Asn19761Ser) rs563969986 0.00014
NM_001267550.2(TTN):c.72720T>A (p.Val24240=) rs550285671 0.00014
NM_001267550.2(TTN):c.74042A>G (p.Gln24681Arg) rs537071956 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_001267550.2(TTN):c.88611T>G (p.Pro29537=) rs555380931 0.00014
NM_001283009.2(RTEL1):c.1596-9C>T rs200803729 0.00014
NM_002485.5(NBN):c.1809C>A (p.Phe603Leu) rs192236678 0.00014
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr) rs201004645 0.00014
NM_005881.4(BCKDK):c.544-10C>T rs370950849 0.00014
NM_006005.3(WFS1):c.2040G>A (p.Glu680=) rs375263408 0.00014
NM_012414.4(RAB3GAP2):c.2304G>A (p.Leu768=) rs140146408 0.00014
NM_015102.5(NPHP4):c.902C>T (p.Pro301Leu) rs527701970 0.00014
NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp) rs376968555 0.00014
NM_016373.4(WWOX):c.517-17A>G rs79423401 0.00014
NM_020458.4(TTC7A):c.648+20G>A rs200822853 0.00014
NM_020964.3(EPG5):c.1254G>A (p.Ala418=) rs368735317 0.00014
NM_022089.4(ATP13A2):c.106-5C>T rs117838709 0.00014
NM_138694.4(PKHD1):c.5093A>G (p.Asn1698Ser) rs148108992 0.00014
NM_138694.4(PKHD1):c.812T>A (p.Leu271His) rs750887164 0.00014
NM_153717.3(EVC):c.2241G>A (p.Ala747=) rs142094016 0.00014
NM_153717.3(EVC):c.2768A>C (p.Lys923Thr) rs748268896 0.00014
NM_153717.3(EVC):c.940-12C>G rs200707006 0.00014
NM_000337.6(SGCD):c.3+20G>A rs187786098 0.00013
NM_001039958.2(MESP2):c.306C>A (p.His102Gln) rs77473319 0.00013
NM_001111.5(ADAR):c.1934+8C>T rs376025865 0.00013
NM_001127649.3(PEX26):c.501G>A (p.Val167=) rs201666490 0.00013
NM_001267550.2(TTN):c.23925C>T (p.Ser7975=) rs374879942 0.00013
NM_001267550.2(TTN):c.43417G>C (p.Asp14473His) rs397517573 0.00013
NM_001267550.2(TTN):c.50452G>A (p.Glu16818Lys) rs397517600 0.00013
NM_001267550.2(TTN):c.53166C>T (p.Asn17722=) rs371730757 0.00013
NM_001267550.2(TTN):c.72906T>A (p.Ala24302=) rs773886758 0.00013
NM_001267550.2(TTN):c.78991C>A (p.Arg26331=) rs779996703 0.00013
NM_001267550.2(TTN):c.82810G>A (p.Gly27604Ser) rs199929362 0.00013
NM_001267550.2(TTN):c.86658G>A (p.Glu28886=) rs760858743 0.00013
NM_001378454.1(ALMS1):c.646+15T>G rs200821435 0.00013
NM_002230.4(JUP):c.1365C>T (p.Ala455=) rs77375949 0.00013
NM_004525.3(LRP2):c.12296-7T>A rs200755164 0.00013
NM_005219.5(DIAPH1):c.1964C>G (p.Pro655Arg) rs367669306 0.00013
NM_005236.3(ERCC4):c.973+11A>T rs185779788 0.00013
NM_014956.5(CEP164):c.828C>T (p.Ala276=) rs201125321 0.00013
NM_017755.6(NSUN2):c.*563C>T rs374769713 0.00013
NM_018136.5(ASPM):c.3960C>T (p.Leu1320=) rs148964635 0.00013
NM_020631.6(PLEKHG5):c.43+20G>T rs200779049 0.00013
NM_020779.4(WDR35):c.765C>T (p.Tyr255=) rs117255034 0.00013
NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile) rs368828743 0.00013
NM_022168.4(IFIH1):c.1812G>A (p.Leu604=) rs118172671 0.00013
NM_024989.4(PGAP1):c.1848T>C (p.Ser616=) rs374678391 0.00013
NM_147127.5(EVC2):c.1208G>A (p.Ser403Asn) rs202093384 0.00013
NM_170707.4(LMNA):c.1488+14C>T rs377700689 0.00013
NM_206933.4(USH2A):c.13134G>T (p.Pro4378=) rs148975669 0.00013
NM_213599.3(ANO5):c.2256G>A (p.Thr752=) rs144048656 0.00013
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys) rs139610577 0.00012
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys) rs200761715 0.00012
NM_000271.5(NPC1):c.1695C>T (p.Phe565=) rs373094778 0.00012
NM_000329.3(RPE65):c.441A>G (p.Thr147=) rs185049543 0.00012
NM_000553.6(WRN):c.2256A>G (p.Pro752=) rs372016270 0.00012
NM_001111.5(ADAR):c.1935-20C>T rs17843867 0.00012
NM_001267550.2(TTN):c.12955G>A (p.Ala4319Thr) rs150137596 0.00012
NM_001267550.2(TTN):c.15218-17C>T rs192438325 0.00012
NM_001267550.2(TTN):c.16113T>C (p.Asn5371=) rs143845692 0.00012
NM_001267550.2(TTN):c.18816T>C (p.Ile6272=) rs146219199 0.00012
NM_001267550.2(TTN):c.24505+13C>T rs534803807 0.00012
NM_001267550.2(TTN):c.39045G>C (p.Val13015=) rs192464868 0.00012
NM_001267550.2(TTN):c.66917T>C (p.Ile22306Thr) rs397517667 0.00012
NM_001267550.2(TTN):c.82497C>T (p.Thr27499=) rs199629314 0.00012
NM_012448.4(STAT5B):c.944A>C (p.Glu315Ala) rs572536541 0.00012
NM_015046.7(SETX):c.3505A>G (p.Met1169Val) rs573849874 0.00012
NM_015046.7(SETX):c.4511A>G (p.Glu1504Gly) rs781275166 0.00012
NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys) rs140116005 0.00012
NM_020751.3(COG6):c.1693-8_1693-6del rs375280565 0.00012
NM_020964.3(EPG5):c.6161C>T (p.Thr2054Met) rs200926094 0.00012
NM_024989.4(PGAP1):c.2287-11A>G rs369759909 0.00012
NM_138694.4(PKHD1):c.3090G>A (p.Ala1030=) rs557162970 0.00012
NM_138694.4(PKHD1):c.3804C>T (p.Ala1268=) rs201769990 0.00012
NM_138694.4(PKHD1):c.5910G>A (p.Gly1970=) rs200730851 0.00012
NM_178170.3(NEK8):c.1632G>C (p.Val544=) rs766110309 0.00012
NM_182961.4(SYNE1):c.19692+20G>C rs140078199 0.00012
NM_182961.4(SYNE1):c.20142C>T (p.Ser6714=) rs201908045 0.00012
NM_201384.3(PLEC):c.13470C>T (p.Arg4490=) rs531535217 0.00012
NM_000057.4(BLM):c.1315A>G (p.Met439Val) rs201231857 0.00011
NM_000057.4(BLM):c.2638G>C (p.Glu880Gln) rs201770808 0.00011
NM_000271.5(NPC1):c.501A>G (p.Ser167=) rs202148667 0.00011
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418 0.00011
NM_000317.3(PTS):c.372A>T (p.Val124=) rs139969809 0.00011
NM_000360.4(TH):c.91-828C>T rs764689284 0.00011
NM_000543.5(SMPD1):c.349G>A (p.Val117Met) rs202206564 0.00011
NM_001006657.2(WDR35):c.1215A>G (p.Thr405=) rs144673252 0.00011
NM_001039958.2(MESP2):c.408G>T (p.Ser136=) rs760746152 0.00011
NM_001040167.2(LFNG):c.1074-16T>C rs143421936 0.00011
NM_001128178.3(NPHP1):c.1270-18A>G rs534210307 0.00011
NM_001145809.2(MYH14):c.1133C>T (p.Ser378Leu) rs150806988 0.00011
NM_001267550.2(TTN):c.100766-11T>C rs761345673 0.00011
NM_001267550.2(TTN):c.102737G>A (p.Arg34246His) rs372716177 0.00011
NM_001267550.2(TTN):c.1213G>A (p.Ala405Thr) rs112266780 0.00011
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly) rs370812788 0.00011
NM_001267550.2(TTN):c.32954G>C (p.Arg10985Pro) rs181395238 0.00011
NM_001267550.2(TTN):c.80554C>T (p.Arg26852Cys) rs185887755 0.00011
NM_001267550.2(TTN):c.88510G>A (p.Asp29504Asn) rs376679796 0.00011
NM_001283009.2(RTEL1):c.1348+20C>T rs375760002 0.00011
NM_001329943.3(KIAA0586):c.42T>A (p.Ile14=) rs554948147 0.00011
NM_002485.5(NBN):c.1035C>T (p.Gly345=) rs146605798 0.00011
NM_002485.5(NBN):c.1914+10G>A rs577706448 0.00011
NM_002485.5(NBN):c.279G>A (p.Ser93=) rs587780781 0.00011
NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser) rs181378432 0.00011
NM_004525.3(LRP2):c.13359C>T (p.Ser4453=) rs202161925 0.00011
NM_005236.3(ERCC4):c.793-13A>T rs201159142 0.00011
NM_005982.4(SIX1):c.180C>G (p.Arg60=) rs781519092 0.00011
NM_014797.3(ZBTB24):c.268C>T (p.Leu90=) rs779928437 0.00011
NM_015102.5(NPHP4):c.122C>T (p.Pro41Leu) rs754311690 0.00011
NM_020632.3(ATP6V0A4):c.1029+5G>A rs147476317 0.00011
NM_020964.3(EPG5):c.1009-10_1009-9dup rs148293118 0.00011
NM_022089.4(ATP13A2):c.114C>T (p.Ser38=) rs368279466 0.00011
NM_022089.4(ATP13A2):c.1536C>T (p.Phe512=) rs536306337 0.00011
NM_022168.4(IFIH1):c.1524+19T>C rs374493449 0.00011
NM_025114.4(CEP290):c.5521G>A (p.Glu1841Lys) rs200158553 0.00011
NM_025132.4(WDR19):c.1249+9A>G rs201377206 0.00011
NM_025132.4(WDR19):c.3027C>T (p.Asp1009=) rs181975379 0.00011
NM_033629.6(TREX1):c.120C>T (p.His40=) rs758622317 0.00011
NM_052989.3(IFT122):c.416+12T>C rs141969308 0.00011
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn) rs76260483 0.00011
NM_153240.5(NPHP3):c.2132A>G (p.Asn711Ser) rs117872197 0.00011
NM_153717.3(EVC):c.2298C>T (p.Asp766=) rs140546984 0.00011
NM_153717.3(EVC):c.473C>G (p.Ser158Cys) rs150284356 0.00011
NM_182961.4(SYNE1):c.20289A>G (p.Ser6763=) rs142327194 0.00011
NM_182961.4(SYNE1):c.2395G>A (p.Val799Ile) rs199670962 0.00011
NM_201384.3(PLEC):c.12027C>T (p.Arg4009=) rs762178584 0.00011
NM_206933.4(USH2A):c.2633G>A (p.Arg878His) rs200124505 0.00011
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767 0.00011
NM_206933.4(USH2A):c.9975G>A (p.Gly3325=) rs188093326 0.00011
NM_000211.5(ITGB2):c.1725C>T (p.Cys575=) rs373452460 0.00010
NM_000211.5(ITGB2):c.1932C>T (p.Ser644=) rs776351244 0.00010
NM_000334.4(SCN4A):c.-33C>T rs575313119 0.00010
NM_000337.6(SGCD):c.3+11C>T rs374790317 0.00010
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) rs111033423 0.00010
NM_000492.4(CFTR):c.2957T>C (p.Leu986Pro) rs565971160 0.00010
NM_000760.4(CSF3R):c.2484T>C (p.His828=) rs149680734 0.00010
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met) rs200604732 0.00010
NM_000784.4(CYP27A1):c.792G>A (p.Val264=) rs144018609 0.00010
NM_001017420.3(ESCO2):c.383G>A (p.Gly128Glu) rs557813179 0.00010
NM_001077365.2(POMT1):c.330C>G (p.Leu110=) rs138064523 0.00010
NM_001194998.2(CEP152):c.5078C>T (p.Pro1693Leu) rs368764302 0.00010
NM_001267550.2(TTN):c.106788A>T (p.Thr35596=) rs369896045 0.00010
NM_001267550.2(TTN):c.2151C>T (p.Pro717=) rs374570732 0.00010
NM_001267550.2(TTN):c.22473C>T (p.Cys7491=) rs566454891 0.00010
NM_001267550.2(TTN):c.40250C>T (p.Pro13417Leu) rs537578226 0.00010
NM_001267550.2(TTN):c.63917G>A (p.Arg21306His) rs202240487 0.00010
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=) rs369503828 0.00010
NM_001267550.2(TTN):c.99865+13T>A rs572802873 0.00010
NM_001283009.2(RTEL1):c.2721G>A (p.Leu907=) rs763364387 0.00010
NM_001351132.2(PEX5):c.1653C>G (p.Leu551=) rs200215904 0.00010
NM_001386140.1(MTTP):c.95G>A (p.Arg32Gln) rs199537553 0.00010
NM_001814.6(CTSC):c.1293C>T (p.Thr431=) rs371808747 0.00010
NM_002180.3(IGHMBP2):c.1149G>A (p.Ala383=) rs201485072 0.00010
NM_002454.3(MTRR):c.1020C>T (p.Cys340=) rs201348649 0.00010
NM_002485.5(NBN):c.-2C>T rs202104448 0.00010
NM_005982.4(SIX1):c.-121C>G rs375002099 0.00010
NM_006892.4(DNMT3B):c.2055G>A (p.Lys685=) rs144497819 0.00010
NM_007259.5(VPS45):c.897A>G (p.Pro299=) rs184193549 0.00010
NM_014956.5(CEP164):c.3484C>A (p.Arg1162Ser) rs138487235 0.00010
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) rs534723946 0.00010
NM_015046.7(SETX):c.3650C>T (p.Thr1217Met) rs140892948 0.00010
NM_015046.7(SETX):c.4020G>T (p.Lys1340Asn) rs368323660 0.00010
NM_016373.4(WWOX):c.851A>G (p.Lys284Arg) rs897453553 0.00010
NM_020458.4(TTC7A):c.1569-18C>T rs201116007 0.00010
NM_020458.4(TTC7A):c.666G>A (p.Thr222=) rs374954171 0.00010
NM_020779.4(WDR35):c.2835A>G (p.Glu945=) rs182928585 0.00010
NM_022124.6(CDH23):c.6197G>A (p.Arg2066Gln) rs201887949 0.00010
NM_022168.4(IFIH1):c.2052T>C (p.Asn684=) rs781523339 0.00010
NM_025114.4(CEP290):c.6806T>C (p.Ile2269Thr) rs200090371 0.00010
NM_033629.6(TREX1):c.843C>T (p.Ala281=) rs200719301 0.00010
NM_052989.3(IFT122):c.229G>A (p.Val77Ile) rs369525803 0.00010
NM_182961.4(SYNE1):c.1729+14C>T rs76417048 0.00010
NM_182961.4(SYNE1):c.19534G>T (p.Ala6512Ser) rs149272010 0.00010
NM_201384.3(PLEC):c.1815+10G>A rs398123396 0.00010
NM_201384.3(PLEC):c.2458-7G>A rs372799330 0.00010
NM_201384.3(PLEC):c.3227A>G (p.Gln1076Arg) rs576369528 0.00010
NM_206933.4(USH2A):c.12088C>T (p.Leu4030=) rs141528682 0.00010
NM_000124.4(ERCC6):c.3965G>T (p.Gly1322Val) rs4253219 0.00009
NM_000211.5(ITGB2):c.1062T>A (p.His354Gln) rs235330 0.00009
NM_000254.3(MTR):c.3007+20C>A rs149877608 0.00009
NM_000360.4(TH):c.51C>T (p.Ala17=) rs199645400 0.00009
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile) rs727505080 0.00009
NM_000492.4(CFTR):c.3718-24G>A rs374013084 0.00009
NM_001077365.2(POMT1):c.1149C>T (p.His383=) rs202121299 0.00009
NM_001101426.4(CRPPA):c.1246C>T (p.Pro416Ser) rs373134516 0.00009
NM_001111.5(ADAR):c.1851C>A (p.Thr617=) rs764879657 0.00009
NM_001130987.2(DYSF):c.4037C>T (p.Ala1346Val) rs201476613 0.00009
NM_001267550.2(TTN):c.107688G>A (p.Pro35896=) rs542575761 0.00009
NM_001267550.2(TTN):c.13689C>T (p.Asp4563=) rs369466156 0.00009
NM_001267550.2(TTN):c.17183-7C>T rs371785683 0.00009
NM_001267550.2(TTN):c.27049+10C>A rs780979988 0.00009
NM_001267550.2(TTN):c.29325C>T (p.Asn9775=) rs377442695 0.00009
NM_001267550.2(TTN):c.33418+12C>A rs199772748 0.00009
NM_001267550.2(TTN):c.38791+12T>C rs369262110 0.00009
NM_001267550.2(TTN):c.42978C>T (p.Tyr14326=) rs369959066 0.00009
NM_001267550.2(TTN):c.88407G>A (p.Ala29469=) rs531445644 0.00009
NM_001267550.2(TTN):c.92009T>C (p.Ile30670Thr) rs369342933 0.00009
NM_001614.5(ACTG1):c.231C>T (p.Thr77=) rs375450454 0.00009
NM_001614.5(ACTG1):c.364-9C>T rs375907911 0.00009
NM_001614.5(ACTG1):c.45C>T (p.Gly15=) rs145574149 0.00009
NM_001614.5(ACTG1):c.564C>T (p.Tyr188=) rs141964376 0.00009
NM_001614.5(ACTG1):c.612C>T (p.Ala204=) rs368022367 0.00009
NM_001614.5(ACTG1):c.954C>T (p.Thr318=) rs3211110 0.00009
NM_002292.4(LAMB2):c.2505C>T (p.His835=) rs752783113 0.00009
NM_004565.3(PEX14):c.488-14C>T rs200684088 0.00009
NM_005219.5(DIAPH1):c.117+8T>A rs548327056 0.00009
NM_005708.5(GPC6):c.1272C>T (p.Asn424=) rs200389469 0.00009
NM_006118.4(HAX1):c.-52G>T rs578086387 0.00009
NM_006846.4(SPINK5):c.2667-17_2667-16insG rs754273587 0.00009
NM_014918.5(CHSY1):c.320+6C>T rs553473414 0.00009
NM_015046.7(SETX):c.5852A>G (p.His1951Arg) rs146593865 0.00009
NM_016373.4(WWOX):c.1228G>T (p.Gly410Cys) rs76204496 0.00009
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro) rs193251130 0.00009
NM_018965.4(TREM2):c.*30G>A rs75272959 0.00009
NM_020458.4(TTC7A):c.2445G>A (p.Ala815=) rs538187043 0.00009
NM_020631.6(PLEKHG5):c.1934-16G>A rs201675267 0.00009
NM_020964.3(EPG5):c.2374G>A (p.Glu792Lys) rs188738484 0.00009
NM_021971.4(GMPPB):c.516C>T (p.Asn172=) rs147672249 0.00009
NM_022089.4(ATP13A2):c.635+15G>A rs563778719 0.00009
NM_022124.6(CDH23):c.5026G>A (p.Ala1676Thr) rs56043301 0.00009
NM_022124.6(CDH23):c.9238G>A (p.Ala3080Thr) rs369395479 0.00009
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp) rs149242794 0.00009
NM_024753.5(TTC21B):c.783G>T (p.Gly261=) rs200255917 0.00009
NM_031471.6(FERMT3):c.1029+14C>T rs201218236 0.00009
NM_033629.6(TREX1):c.504C>G (p.Pro168=) rs747052975 0.00009
NM_052989.3(IFT122):c.3570G>T (p.Leu1190=) rs146778076 0.00009
NM_147127.5(EVC2):c.2077G>A (p.Val693Ile) rs199824658 0.00009
NM_173551.5(ANKS6):c.1680A>G (p.Pro560=) rs181786617 0.00009
NM_182961.4(SYNE1):c.16038A>G (p.Leu5346=) rs192936944 0.00009
NM_182961.4(SYNE1):c.21195+12A>G rs200930593 0.00009
NM_198428.3(BBS9):c.678A>G (p.Lys226=) rs201231133 0.00009
NM_201384.3(PLEC):c.11418C>T (p.Thr3806=) rs559510708 0.00009
NM_000083.3(CLCN1):c.2544C>T (p.Leu848=) rs140111476 0.00008
NM_000277.3(PAH):c.837C>T (p.Pro279=) rs138355741 0.00008
NM_001077365.2(POMT1):c.1486+10C>T rs373393733 0.00008
NM_001145809.2(MYH14):c.2600G>A (p.Arg867His) rs547836952 0.00008
NM_001267550.2(TTN):c.103524C>T (p.Val34508=) rs587780985 0.00008
NM_001267550.2(TTN):c.2776-14T>C rs201611946 0.00008
NM_001267550.2(TTN):c.33742+8C>T rs375939001 0.00008
NM_001267550.2(TTN):c.34216C>A (p.Pro11406Thr) rs532102837 0.00008
NM_001267550.2(TTN):c.57112-4C>T rs117072049 0.00008
NM_001267550.2(TTN):c.80859G>A (p.Thr26953=) rs771257647 0.00008
NM_001614.5(ACTG1):c.486G>A (p.Thr162=) rs782442814 0.00008
NM_002180.3(IGHMBP2):c.548-20C>T rs368802434 0.00008
NM_004937.3(CTNS):c.356G>A (p.Arg119His) rs375970075 0.00008
NM_004937.3(CTNS):c.461+16G>A rs201772152 0.00008
NM_005236.3(ERCC4):c.2545C>G (p.Gln849Glu) rs374186605 0.00008
NM_006892.4(DNMT3B):c.336C>T (p.Ser112=) rs199763590 0.00008
NM_014956.5(CEP164):c.3364C>T (p.Arg1122Cys) rs149875085 0.00008
NM_015046.7(SETX):c.1374T>G (p.Phe458Leu) rs201441886 0.00008
NM_015046.7(SETX):c.3103A>G (p.Lys1035Glu) rs117229601 0.00008
NM_015046.7(SETX):c.3640A>G (p.Arg1214Gly) rs371687197 0.00008
NM_015046.7(SETX):c.5842A>G (p.Met1948Val) rs762267386 0.00008
NM_015046.7(SETX):c.7682C>T (p.Ser2561Leu) rs147705644 0.00008
NM_015046.7(SETX):c.7979A>G (p.Asp2660Gly) rs567672087 0.00008
NM_015102.5(NPHP4):c.2807C>T (p.Thr936Met) rs201074950 0.00008
NM_016938.5(EFEMP2):c.848-16C>T rs773386551 0.00008
NM_020779.4(WDR35):c.867C>T (p.Tyr289=) rs185888517 0.00008
NM_021942.6(TRAPPC11):c.561-11G>A rs188054761 0.00008
NM_022095.4(ZNF335):c.2500C>T (p.Pro834Ser) rs549937846 0.00008
NM_024685.4(BBS10):c.1265G>A (p.Arg422Gln) rs138961848 0.00008
NM_153717.3(EVC):c.1564-6C>T rs188245524 0.00008
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079 0.00008
NM_176824.3(BBS7):c.1311C>T (p.Asn437=) rs199812109 0.00008
NM_182961.4(SYNE1):c.5488T>C (p.Leu1830=) rs118022241 0.00008
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_000057.4(BLM):c.178T>A (p.Leu60Ile) rs138542210 0.00007
NM_000083.3(CLCN1):c.2875A>G (p.Ser959Gly) rs779694767 0.00007
NM_000180.4(GUCY2D):c.1659T>G (p.Gly553=) rs766570845 0.00007
NM_000211.5(ITGB2):c.381C>T (p.Ile127=) rs483352812 0.00007
NM_000254.3(MTR):c.3141C>T (p.Tyr1047=) rs560615373 0.00007
NM_000287.4(PEX6):c.1680C>T (p.Pro560=) rs372998833 0.00007
NM_000329.3(RPE65):c.585C>T (p.Cys195=) rs571111378 0.00007
NM_000360.4(TH):c.252G>A (p.Leu84=) rs758016812 0.00007
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) rs142920240 0.00007
NM_001077418.3(TMEM231):c.376C>T (p.Leu126=) rs557695110 0.00007
NM_001267550.2(TTN):c.104205G>A (p.Thr34735=) rs752424146 0.00007
NM_001267550.2(TTN):c.104298T>C (p.Ala34766=) rs751788327 0.00007
NM_001267550.2(TTN):c.28359C>T (p.His9453=) rs372238447 0.00007
NM_001267550.2(TTN):c.54105G>A (p.Ala18035=) rs371155050 0.00007
NM_001267550.2(TTN):c.561G>A (p.Ser187=) rs141444282 0.00007
NM_001267550.2(TTN):c.58122C>G (p.Thr19374=) rs189818369 0.00007
NM_001267550.2(TTN):c.70506G>T (p.Gly23502=) rs181702963 0.00007
NM_001267550.2(TTN):c.75194A>G (p.His25065Arg) rs182161195 0.00007
NM_001267550.2(TTN):c.76854A>G (p.Val25618=) rs192902075 0.00007
NM_001367624.2(ZNF469):c.11244C>T (p.Ser3748=) rs936296523 0.00007
NM_001614.5(ACTG1):c.364-10C>T rs200552253 0.00007
NM_002230.4(JUP):c.1774-6C>T rs375016135 0.00007
NM_002230.4(JUP):c.427G>A (p.Ala143Thr) rs375788626 0.00007
NM_004565.3(PEX14):c.1107C>T (p.Gly369=) rs781098256 0.00007
NM_005422.4(TECTA):c.6458C>T (p.Thr2153Met) rs146965680 0.00007
NM_006005.3(WFS1):c.21G>T (p.Pro7=) rs372928810 0.00007
NM_014425.5(INVS):c.1374C>A (p.Thr458=) rs114912725 0.00007
NM_014956.5(CEP164):c.4053G>A (p.Thr1351=) rs373842310 0.00007
NM_015046.7(SETX):c.2469C>G (p.Phe823Leu) rs141163823 0.00007
NM_015046.7(SETX):c.4204A>T (p.Thr1402Ser) rs150421712 0.00007
NM_022168.4(IFIH1):c.1853G>A (p.Arg618Gln) rs200017837 0.00007
NM_024570.4(RNASEH2B):c.822+16T>C rs750179605 0.00007
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) rs140236736 0.00007
NM_025114.4(CEP290):c.4695A>G (p.Lys1565=) rs189871589 0.00007
NM_025132.4(WDR19):c.3261+20C>T rs547317070 0.00007
NM_032193.4(RNASEH2C):c.*1621A>G rs373799308 0.00007
NM_052989.3(IFT122):c.2375+13C>T rs749785449 0.00007
NM_176824.3(BBS7):c.*932T>G rs3217755 0.00007
NM_201253.3(CRB1):c.1075T>G (p.Ser359Ala) rs533227950 0.00007
NM_000057.4(BLM):c.1044G>A (p.Met348Ile) rs184657475 0.00006
NM_000057.4(BLM):c.114A>G (p.Lys38=) rs770017301 0.00006
NM_000057.4(BLM):c.2898C>G (p.Leu966=) rs201220226 0.00006
NM_000057.4(BLM):c.3062A>G (p.Asn1021Ser) rs369629509 0.00006
NM_000070.3(CAPN3):c.1017G>A (p.Thr339=) rs141934227 0.00006
NM_000211.5(ITGB2):c.741+8C>T rs111780009 0.00006
NM_000254.3(MTR):c.1076-11C>T rs186367553 0.00006
NM_000302.4(PLOD1):c.936C>T (p.His312=) rs374787907 0.00006
NM_000329.3(RPE65):c.1086A>G (p.Gln362=) rs750890448 0.00006
NM_000492.4(CFTR):c.1519A>G (p.Ile507Val) rs1801178 0.00006
NM_000553.6(WRN):c.2630+11T>A rs202013204 0.00006
NM_001023570.4(IQCB1):c.1509C>G (p.Ala503=) rs149259534 0.00006
NM_001102564.3(IFT43):c.55-17T>C rs200685248 0.00006
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val) rs200289511 0.00006
NM_001267550.2(TTN):c.20355G>A (p.Ser6785=) rs549470227 0.00006
NM_001267550.2(TTN):c.22077A>T (p.Gly7359=) rs202102237 0.00006
NM_001267550.2(TTN):c.28462+11T>C rs563062273 0.00006
NM_001267550.2(TTN):c.49758T>C (p.Tyr16586=) rs72677247 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.60198G>A (p.Pro20066=) rs767152563 0.00006
NM_001267550.2(TTN):c.62149A>G (p.Arg20717Gly) rs75458912 0.00006
NM_001267550.2(TTN):c.66160+15C>T rs377288086 0.00006
NM_001267550.2(TTN):c.7023C>T (p.Asp2341=) rs761409144 0.00006
NM_001267550.2(TTN):c.70305G>A (p.Thr23435=) rs397517684 0.00006
NM_001267550.2(TTN):c.70380G>A (p.Leu23460=) rs185660043 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.83081G>A (p.Arg27694His) rs775499341 0.00006
NM_001267550.2(TTN):c.83272T>C (p.Phe27758Leu) rs188323108 0.00006
NM_001267550.2(TTN):c.91089G>A (p.Lys30363=) rs762103106 0.00006
NM_001267550.2(TTN):c.93444C>T (p.Tyr31148=) rs561739832 0.00006
NM_001267550.2(TTN):c.94016C>T (p.Thr31339Ile) rs184078016 0.00006
NM_001267550.2(TTN):c.95406A>G (p.Arg31802=) rs199652273 0.00006
NM_001614.5(ACTG1):c.165C>T (p.Gly55=) rs146402466 0.00006
NM_001614.5(ACTG1):c.363+7C>G rs782205549 0.00006
NM_001814.6(CTSC):c.948G>C (p.Leu316=) rs145373075 0.00006
NM_002292.4(LAMB2):c.1226-5G>A rs545564814 0.00006
NM_002292.4(LAMB2):c.2099G>A (p.Gly700Glu) rs142860588 0.00006
NM_002292.4(LAMB2):c.3498A>G (p.Pro1166=) rs186771094 0.00006
NM_002618.4(PEX13):c.913+19G>A rs189410109 0.00006
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963 0.00006
NM_004153.4(ORC1):c.1745A>G (p.Gln582Arg) rs547441862 0.00006
NM_004393.6(DAG1):c.927C>T (p.Arg309=) rs551679833 0.00006
NM_004415.4(DSP):c.4320G>A (p.Val1440=) rs571103583 0.00006
NM_005219.5(DIAPH1):c.1659G>A (p.Lys553=) rs200506473 0.00006
NM_005236.3(ERCC4):c.389-5C>T rs377224276 0.00006
NM_006019.4(TCIRG1):c.307C>T (p.Arg103Cys) rs771198568 0.00006
NM_012414.4(RAB3GAP2):c.1709A>G (p.Asn570Ser) rs143286302 0.00006
NM_013382.7(POMT2):c.237G>A (p.Pro79=) rs201322445 0.00006
NM_014321.4(ORC6):c.*217C>T rs143138864 0.00006
NM_014956.5(CEP164):c.1399C>T (p.Leu467=) rs528252533 0.00006
NM_015046.7(SETX):c.1227A>G (p.Leu409=) rs769913556 0.00006
NM_015046.7(SETX):c.1690T>G (p.Leu564Val) rs761877146 0.00006
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg) rs141266068 0.00006
NM_015046.7(SETX):c.4136A>G (p.His1379Arg) rs181158146 0.00006
NM_015046.7(SETX):c.5712A>G (p.Arg1904=) rs750372437 0.00006
NM_015046.7(SETX):c.6161G>A (p.Ser2054Asn) rs200778360 0.00006
NM_015046.7(SETX):c.658A>C (p.Lys220Gln) rs761180215 0.00006
NM_015046.7(SETX):c.6675C>T (p.Tyr2225=) rs200382898 0.00006
NM_015046.7(SETX):c.7439C>T (p.Ala2480Val) rs376524608 0.00006
NM_015046.7(SETX):c.7597C>T (p.His2533Tyr) rs202121071 0.00006
NM_015046.7(SETX):c.7660T>A (p.Phe2554Ile) rs368269464 0.00006
NM_015046.7(SETX):c.7874C>T (p.Pro2625Leu) rs553413088 0.00006
NM_015046.7(SETX):c.93A>G (p.Gln31=) rs201795631 0.00006
NM_015102.5(NPHP4):c.1490C>G (p.Pro497Arg) rs375051705 0.00006
NM_016122.3(CEP83):c.786A>G (p.Thr262=) rs200666634 0.00006
NM_016373.4(WWOX):c.421G>A (p.Ala141Thr) rs369907002 0.00006
NM_016373.4(WWOX):c.533A>G (p.Glu178Gly) rs764588235 0.00006
NM_017739.4(POMGNT1):c.1111-9C>T rs757533535 0.00006
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly) rs141025803 0.00006
NM_018972.4(GDAP1):c.90T>C (p.His30=) rs555369956 0.00006
NM_021252.5(RAB18):c.*448G>A rs563981728 0.00006
NM_022089.4(ATP13A2):c.2529+9G>A rs200809857 0.00006
NM_022095.4(ZNF335):c.1830C>G (p.Leu610=) rs60180055 0.00006
NM_022098.4(XPNPEP3):c.*1452A>G rs553717950 0.00006
NM_022168.4(IFIH1):c.2115A>C (p.Arg705Ser) rs185928139 0.00006
NM_022168.4(IFIH1):c.769+17C>T rs74162076 0.00006
NM_025074.7(FRAS1):c.1072-5C>T rs570183677 0.00006
NM_025114.4(CEP290):c.5227-9A>G rs571981633 0.00006
NM_031471.6(FERMT3):c.1545+13G>A rs536991493 0.00006
NM_032119.4(ADGRV1):c.9366A>G (p.Thr3122=) rs200412477 0.00006
NM_032575.3(GLIS2):c.849C>T (p.His283=) rs200829928 0.00006
NM_052989.3(IFT122):c.1992+7A>G rs757823317 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_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys) rs141081295 0.00006
NM_152618.3(BBS12):c.2014G>A (p.Ala672Thr) rs140895713 0.00006
NM_153717.3(EVC):c.*2466G>A rs572400824 0.00006
NM_170784.3(MKKS):c.757T>C (p.Ser253Pro) rs201785599 0.00006
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg) rs377750405 0.00006
NM_201384.3(PLEC):c.1816-7C>G rs201141391 0.00006
NM_201384.3(PLEC):c.6059A>C (p.Glu2020Ala) rs367662560 0.00006
NM_201384.3(PLEC):c.7029G>A (p.Ala2343=) rs559198172 0.00006
NM_201384.3(PLEC):c.9342C>T (p.Val3114=) rs541882395 0.00006
NM_206933.4(USH2A):c.12597T>C (p.Ala4199=) rs202172029 0.00006
NM_213599.3(ANO5):c.1215A>G (p.Gln405=) rs751839118 0.00006
NM_000070.3(CAPN3):c.1437C>T (p.Ser479=) rs147914333 0.00005
NM_000180.4(GUCY2D):c.271G>C (p.Ala91Pro) rs573367793 0.00005
NM_000211.5(ITGB2):c.28G>A (p.Ala10Thr) rs201802601 0.00005
NM_000317.3(PTS):c.132C>T (p.Asn44=) rs763556416 0.00005
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg) rs184492796 0.00005
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile) rs139919229 0.00005
NM_000492.4(CFTR):c.3469-20T>C rs373002889 0.00005
NM_001042545.2(LTBP4):c.1953G>A (p.Pro651=) rs371903094 0.00005
NM_001048174.2(MUTYH):c.630C>T (p.Asn210=) rs767327888 0.00005
NM_001111.5(ADAR):c.1934+12G>A rs776357782 0.00005
NM_001184.4(ATR):c.7192+19A>G rs376334522 0.00005
NM_001267550.2(TTN):c.105085T>C (p.Leu35029=) rs374678473 0.00005
NM_001267550.2(TTN):c.11811T>C (p.Pro3937=) rs571602215 0.00005
NM_001267550.2(TTN):c.14935+9C>T rs544241749 0.00005
NM_001267550.2(TTN):c.2280C>T (p.Val760=) rs727505021 0.00005
NM_001267550.2(TTN):c.31227T>G (p.Val10409=) rs748539440 0.00005
NM_001267550.2(TTN):c.43161G>A (p.Glu14387=) rs765214404 0.00005
NM_001267550.2(TTN):c.4998A>T (p.Thr1666=) rs139054950 0.00005
NM_001267550.2(TTN):c.51739+14C>A rs727505018 0.00005
NM_001267550.2(TTN):c.55932T>C (p.Phe18644=) rs755839294 0.00005
NM_001267550.2(TTN):c.72113C>T (p.Thr24038Met) rs370375696 0.00005
NM_001267550.2(TTN):c.9519C>T (p.Asp3173=) rs151129843 0.00005
NM_001329943.3(KIAA0586):c.3774C>G (p.Ala1258=) rs199982600 0.00005
NM_001379286.1(ZNF423):c.1131C>T (p.Ser377=) rs369662414 0.00005
NM_001379286.1(ZNF423):c.1365G>C (p.Leu455=) rs548578929 0.00005
NM_001379286.1(ZNF423):c.453C>T (p.Cys151=) rs569824346 0.00005
NM_001614.5(ACTG1):c.735C>T (p.Gly245=) rs186289501 0.00005
NM_004700.4(KCNQ4):c.648C>T (p.Arg216=) rs80358269 0.00005
NM_004937.3(CTNS):c.285A>T (p.Gly95=) rs373998956 0.00005
NM_004937.3(CTNS):c.364G>A (p.Ala122Thr) rs187396540 0.00005
NM_006118.4(HAX1):c.53+11G>A rs372098620 0.00005
NM_012210.4(TRIM32):c.1275T>C (p.Asp425=) rs150813870 0.00005
NM_012448.4(STAT5B):c.162C>T (p.Asn54=) rs201916641 0.00005
NM_013382.7(POMT2):c.2057G>A (p.Arg686Gln) rs200163818 0.00005
NM_014053.4(FLVCR1):c.*3264T>C rs374214375 0.00005
NM_015046.7(SETX):c.1015A>C (p.Lys339Gln) rs768437607 0.00005
NM_015046.7(SETX):c.2862G>A (p.Thr954=) rs149610510 0.00005
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) rs373375060 0.00005
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu) rs140781535 0.00005
NM_015046.7(SETX):c.5104G>A (p.Val1702Ile) rs61745659 0.00005
NM_015046.7(SETX):c.718+14C>A rs762900574 0.00005
NM_015046.7(SETX):c.991A>G (p.Ile331Val) rs572884359 0.00005
NM_020458.4(TTC7A):c.348+12G>A rs777847973 0.00005
NM_020964.3(EPG5):c.2233G>A (p.Ala745Thr) rs564487069 0.00005
NM_022168.4(IFIH1):c.1787_1797del (p.Lys596fs) rs766039450 0.00005
NM_022168.4(IFIH1):c.1866G>A (p.Ala622=) rs766027130 0.00005
NM_022168.4(IFIH1):c.1899G>T (p.Glu633Asp) rs550930413 0.00005
NM_022168.4(IFIH1):c.2464C>T (p.Arg822Ter) rs747926684 0.00005
NM_024570.4(RNASEH2B):c.137-19G>C rs201814710 0.00005
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile) rs201872547 0.00005
NM_138691.3(TMC1):c.*156T>C rs545955592 0.00005
NM_138694.4(PKHD1):c.11224G>A (p.Ala3742Thr) rs557211301 0.00005
NM_139343.3(BIN1):c.1131+9C>T rs138606879 0.00005
NM_147127.5(EVC2):c.209G>T (p.Gly70Val) rs754380041 0.00005
NM_152384.3(BBS5):c.190T>C (p.Leu64=) rs777369461 0.00005
NM_152384.3(BBS5):c.817-5T>G rs780213701 0.00005
NM_182961.4(SYNE1):c.1113A>G (p.Pro371=) rs374376301 0.00005
NM_182961.4(SYNE1):c.12565G>A (p.Val4189Met) rs148204741 0.00005
NM_198428.3(BBS9):c.270C>T (p.Thr90=) rs747398844 0.00005
NM_206933.4(USH2A):c.1731C>T (p.Cys577=) rs41313732 0.00005
NM_000070.3(CAPN3):c.309+12C>T rs200773265 0.00004
NM_000070.3(CAPN3):c.499-18C>T rs144299553 0.00004
NM_000254.3(MTR):c.2703A>G (p.Leu901=) rs780615625 0.00004
NM_000320.3(QDPR):c.436+16C>T rs187812666 0.00004
NM_000337.6(SGCD):c.15G>C (p.Glu5Asp) rs549319429 0.00004
NM_000360.4(TH):c.264G>A (p.Pro88=) rs113140700 0.00004
NM_000360.4(TH):c.313-9C>T rs538345855 0.00004
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg) rs756969021 0.00004
NM_000543.5(SMPD1):c.1599G>A (p.Pro533=) rs552841217 0.00004
NM_000553.6(WRN):c.3309+13G>T rs554036292 0.00004
NM_000553.6(WRN):c.3627T>A (p.Ala1209=) rs780963410 0.00004
NM_001044385.3(TMEM237):c.274+11A>G rs200487330 0.00004
NM_001044385.3(TMEM237):c.33G>A (p.Glu11=) rs544767440 0.00004
NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile) rs377304621 0.00004
NM_001077365.2(POMT1):c.310C>T (p.Leu104=) rs146982282 0.00004
NM_001077365.2(POMT1):c.699+86C>T rs775951652 0.00004
NM_001098484.3(SLC4A4):c.*1945A>T rs375540927 0.00004
NM_001098484.3(SLC4A4):c.*2346T>C rs369784676 0.00004
NM_001098484.3(SLC4A4):c.*628T>G rs368650087 0.00004
NM_001098484.3(SLC4A4):c.2941T>C (p.Leu981=) rs147261946 0.00004
NM_001110219.3(GJB6):c.396G>A (p.Leu132=) rs189971962 0.00004
NM_001145809.2(MYH14):c.*302G>A rs544178350 0.00004
NM_001267550.2(TTN):c.100766-9dup rs202238743 0.00004
NM_001267550.2(TTN):c.10128G>A (p.Ser3376=) rs755262343 0.00004
NM_001267550.2(TTN):c.13089C>T (p.Pro4363=) rs555324138 0.00004
NM_001267550.2(TTN):c.15561G>A (p.Leu5187=) rs779159076 0.00004
NM_001267550.2(TTN):c.16056T>C (p.Asp5352=) rs376820575 0.00004
NM_001267550.2(TTN):c.18942C>T (p.Thr6314=) rs572285982 0.00004
NM_001267550.2(TTN):c.20874G>A (p.Thr6958=) rs765956215 0.00004
NM_001267550.2(TTN):c.24227-15C>T rs397517505 0.00004
NM_001267550.2(TTN):c.34379-14T>C rs727505341 0.00004
NM_001267550.2(TTN):c.35471-10A>G rs780849590 0.00004
NM_001267550.2(TTN):c.38256G>A (p.Pro12752=) rs794728014 0.00004
NM_001267550.2(TTN):c.58426G>A (p.Val19476Ile) rs397517636 0.00004
NM_001267550.2(TTN):c.6162C>T (p.Ala2054=) rs143265948 0.00004
NM_001267550.2(TTN):c.67348+11G>C rs587780982 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.82692G>A (p.Ala27564=) rs557628408 0.00004
NM_001267550.2(TTN):c.87006T>C (p.Val29002=) rs761762773 0.00004
NM_001267550.2(TTN):c.9485A>G (p.Gln3162Arg) rs727503681 0.00004
NM_001267550.2(TTN):c.97464T>C (p.Ser32488=) rs571147766 0.00004
NM_001267550.2(TTN):c.98367G>A (p.Lys32789=) rs72648274 0.00004
NM_001283009.2(RTEL1):c.2428G>A (p.Gly810Arg) rs545613984 0.00004
NM_001329943.3(KIAA0586):c.1543G>A (p.Ala515Thr) rs568910724 0.00004
NM_001374623.1(PNPLA1):c.1595+340A>G rs375247045 0.00004
NM_001379286.1(ZNF423):c.3517-18T>C rs377719857 0.00004
NM_001382391.1(CSPP1):c.924-9G>A rs199910808 0.00004
NM_001614.5(ACTG1):c.81C>T (p.Pro27=) rs11549230 0.00004
NM_002180.3(IGHMBP2):c.2883G>A (p.Leu961=) rs3750977 0.00004
NM_002230.4(JUP):c.522G>A (p.Ala174=) rs782745301 0.00004
NM_002485.5(NBN):c.278C>T (p.Ser93Leu) rs12721593 0.00004
NM_002485.5(NBN):c.481-18A>G rs587781092 0.00004
NM_002485.5(NBN):c.702+16G>C rs2272581 0.00004
NM_005219.5(DIAPH1):c.3662-17C>T rs371640300 0.00004
NM_005422.4(TECTA):c.6428C>T (p.Ser2143Leu) rs538443920 0.00004
NM_006005.3(WFS1):c.315+11C>T rs202232817 0.00004
NM_006118.4(HAX1):c.505-16A>G rs551835048 0.00004
NM_006208.3(ENPP1):c.*1559G>T rs551333973 0.00004
NM_006208.3(ENPP1):c.*4571G>C rs574559068 0.00004
NM_006208.3(ENPP1):c.*4641A>G rs545401301 0.00004
NM_006846.4(SPINK5):c.48C>T (p.Leu16=) rs374054110 0.00004
NM_006892.4(DNMT3B):c.1215C>T (p.Asn405=) rs183617300 0.00004
NM_012210.4(TRIM32):c.1609C>T (p.Leu537=) rs139275673 0.00004
NM_012448.4(STAT5B):c.171C>T (p.Ala57=) rs200136266 0.00004
NM_013382.7(POMT2):c.1654-10C>T rs754208063 0.00004
NM_014363.6(SACS):c.1224C>T (p.Asp408=) rs2274386 0.00004
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg) rs376680832 0.00004
NM_014918.5(CHSY1):c.1701C>T (p.Leu567=) rs192677621 0.00004
NM_015046.7(SETX):c.1750C>G (p.Leu584Val) rs764995848 0.00004
NM_015046.7(SETX):c.2234G>A (p.Arg745His) rs373933140 0.00004
NM_015046.7(SETX):c.2543T>G (p.Val848Gly) rs567711722 0.00004
NM_015046.7(SETX):c.2935G>A (p.Asp979Asn) rs138287942 0.00004
NM_015046.7(SETX):c.3115A>G (p.Ile1039Val) rs372529790 0.00004
NM_015046.7(SETX):c.3341T>C (p.Ile1114Thr) rs760535401 0.00004
NM_015046.7(SETX):c.3587A>G (p.Asn1196Ser) rs376381668 0.00004
NM_015046.7(SETX):c.377A>G (p.His126Arg) rs368932301 0.00004
NM_015046.7(SETX):c.4436C>T (p.Ala1479Val) rs761119964 0.00004
NM_015046.7(SETX):c.4828C>T (p.Leu1610Phe) rs749891883 0.00004
NM_015046.7(SETX):c.4979A>G (p.His1660Arg) rs371894414 0.00004
NM_015046.7(SETX):c.546C>A (p.Asp182Glu) rs199748733 0.00004
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr) rs140676924 0.00004
NM_015046.7(SETX):c.7073A>G (p.Asp2358Gly) rs770469636 0.00004
NM_015046.7(SETX):c.7741C>T (p.His2581Tyr) rs530686162 0.00004
NM_015046.7(SETX):c.77C>T (p.Pro26Leu) rs377617692 0.00004
NM_015046.7(SETX):c.986G>A (p.Arg329Gln) rs376077293 0.00004
NM_015102.5(NPHP4):c.1120-9T>A rs570380438 0.00004
NM_015102.5(NPHP4):c.1764-5C>T rs370899989 0.00004
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg) rs561414163 0.00004
NM_015910.7(WDPCP):c.*323A>G rs369149310 0.00004
NM_016042.4(EXOSC3):c.294T>A (p.Gly98=) rs910605187 0.00004
NM_016373.4(WWOX):c.542C>T (p.Thr181Ile) rs756339242 0.00004
NM_016464.5(TMEM138):c.387G>A (p.Leu129=) rs553815473 0.00004
NM_020631.6(PLEKHG5):c.771C>G (p.Gly257=) rs200400689 0.00004
NM_020751.3(COG6):c.939T>C (p.Ala313=) rs550755756 0.00004
NM_020779.4(WDR35):c.1053T>C (p.Pro351=) rs74385826 0.00004
NM_020964.3(EPG5):c.6939C>T (p.Cys2313=) rs774873040 0.00004
NM_022168.4(IFIH1):c.2304+20C>T rs561559397 0.00004
NM_022336.4(EDAR):c.-18-14C>T rs532111960 0.00004
NM_031471.6(FERMT3):c.1671-14T>C rs201170855 0.00004
NM_031471.6(FERMT3):c.1722G>C (p.Leu574=) rs769738360 0.00004
NM_031885.5(BBS2):c.744T>C (p.His248=) rs186893286 0.00004
NM_144596.4(TTC8):c.145-7G>A rs368220069 0.00004
NM_147127.5(EVC2):c.1040C>T (p.Pro347Leu) rs199708349 0.00004
NM_147127.5(EVC2):c.1146-5C>G rs746188195 0.00004
NM_147127.5(EVC2):c.3024G>A (p.Ser1008=) rs372719753 0.00004
NM_153240.5(NPHP3):c.1083T>C (p.Ser361=) rs781244729 0.00004
NM_153717.3(EVC):c.*1648T>C rs371788560 0.00004
NM_153717.3(EVC):c.1269G>A (p.Thr423=) rs551881521 0.00004
NM_182961.4(SYNE1):c.4610G>A (p.Arg1537Gln) rs369775705 0.00004
NM_198428.3(BBS9):c.1276-17C>T rs199758277 0.00004
NM_206933.4(USH2A):c.14662A>T (p.Thr4888Ser) rs200993435 0.00004
NM_000243.3(MEFV):c.1758T>C (p.Asn586=) rs202228332 0.00003
NM_000287.4(PEX6):c.1207G>A (p.Asp403Asn) rs535326039 0.00003
NM_000287.4(PEX6):c.2806+14C>T rs544074442 0.00003
NM_000302.4(PLOD1):c.509A>T (p.Glu170Val) rs554232128 0.00003
NM_000337.6(SGCD):c.3+14G>A rs538229806 0.00003
NM_000360.4(TH):c.66C>T (p.Asp22=) rs377073512 0.00003
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481 0.00003
NM_000518.5(HBB):c.-31C>T rs63750628 0.00003
NM_000553.6(WRN):c.2342C>T (p.Thr781Ile) rs17847568 0.00003
NM_001044385.3(TMEM237):c.396-13G>A rs570600190 0.00003
NM_001081.4(CUBN):c.8921C>T (p.Thr2974Met) rs374477671 0.00003
NM_001085429.2(TMEM213):c.-55G>A rs368646400 0.00003
NM_001130987.2(DYSF):c.2506C>T (p.Arg836Trp) rs749002214 0.00003
NM_001130987.2(DYSF):c.432G>A (p.Pro144=) rs542176164 0.00003
NM_001173990.3(TMEM216):c.*303C>T rs144613667 0.00003
NM_001254.4(CDC6):c.1512A>G (p.Ser504=) rs4135031 0.00003
NM_001267550.2(TTN):c.18029-14T>C rs746546928 0.00003
NM_001267550.2(TTN):c.18363G>A (p.Gln6121=) rs375032616 0.00003
NM_001267550.2(TTN):c.19818A>G (p.Lys6606=) rs397517492 0.00003
NM_001267550.2(TTN):c.28677C>T (p.Asn9559=) rs775065173 0.00003
NM_001267550.2(TTN):c.30444G>A (p.Ser10148=) rs367901929 0.00003
NM_001267550.2(TTN):c.52962G>A (p.Pro17654=) rs773148195 0.00003
NM_001267550.2(TTN):c.53100T>G (p.Pro17700=) rs373140387 0.00003
NM_001267550.2(TTN):c.53943A>T (p.Gly17981=) rs367580862 0.00003
NM_001267550.2(TTN):c.57477C>T (p.Gly19159=) rs777480811 0.00003
NM_001267550.2(TTN):c.94348C>T (p.Arg31450Cys) rs541040798 0.00003
NM_001267550.2(TTN):c.96960T>C (p.Ala32320=) rs141431591 0.00003
NM_001378454.1(ALMS1):c.12363-18A>C rs199968770 0.00003
NM_001379286.1(ZNF423):c.2268G>T (p.Lys756Asn) rs750555513 0.00003
NM_001386140.1(MTTP):c.2320T>G (p.Ser774Ala) rs148362467 0.00003
NM_001614.5(ACTG1):c.1095G>A (p.Ser365=) rs201121917 0.00003
NM_001614.5(ACTG1):c.693A>G (p.Ala231=) rs534061526 0.00003
NM_001614.5(ACTG1):c.909C>T (p.Thr303=) rs187127467 0.00003
NM_002180.3(IGHMBP2):c.1827G>A (p.Ala609=) rs541245852 0.00003
NM_002454.3(MTRR):c.246G>C (p.Pro82=) rs149300444 0.00003
NM_002617.4(PEX10):c.435G>A (p.Met145Ile) rs368273118 0.00003
NM_005219.5(DIAPH1):c.117+9C>T rs528279050 0.00003
NM_005422.4(TECTA):c.3750T>C (p.Asp1250=) rs372087934 0.00003
NM_012414.4(RAB3GAP2):c.*2043G>A rs367962640 0.00003
NM_012414.4(RAB3GAP2):c.2522C>T (p.Ala841Val) rs764713903 0.00003
NM_014425.5(INVS):c.*297A>G rs190277417 0.00003
NM_014425.5(INVS):c.2604C>T (p.Ser868=) rs751765105 0.00003
NM_015046.7(SETX):c.2399G>T (p.Arg800Met) rs761725498 0.00003
NM_015046.7(SETX):c.267A>G (p.Ile89Met) rs767232097 0.00003
NM_015046.7(SETX):c.2755G>C (p.Val919Leu) rs561190371 0.00003
NM_015046.7(SETX):c.2924C>T (p.Thr975Met) rs200722368 0.00003
NM_015046.7(SETX):c.3117A>G (p.Ile1039Met) rs886063555 0.00003
NM_015046.7(SETX):c.3260C>T (p.Ser1087Phe) rs139559547 0.00003
NM_015046.7(SETX):c.4291C>G (p.Pro1431Ala) rs371541705 0.00003
NM_015046.7(SETX):c.4390C>T (p.Pro1464Ser) rs756080695 0.00003
NM_015046.7(SETX):c.4423A>G (p.Ile1475Val) rs376678876 0.00003
NM_015046.7(SETX):c.503G>A (p.Arg168Gln) rs772017103 0.00003
NM_015046.7(SETX):c.5591A>C (p.Gln1864Pro) rs375747001 0.00003
NM_015046.7(SETX):c.5767A>G (p.Thr1923Ala) rs372993859 0.00003
NM_015046.7(SETX):c.6829T>C (p.Leu2277=) rs189444354 0.00003
NM_015046.7(SETX):c.806C>T (p.Ser269Leu) rs757988188 0.00003
NM_015602.4(TOR1AIP1):c.554-1G>A rs200993053 0.00003
NM_015910.7(WDPCP):c.76-15T>A rs200557033 0.00003
NM_017739.4(POMGNT1):c.289C>T (p.Arg97Trp) rs564076183 0.00003
NM_018136.5(ASPM):c.10331+18G>A rs571179573 0.00003
NM_020751.3(COG6):c.69G>A (p.Gly23=) rs372786424 0.00003
NM_021942.6(TRAPPC11):c.3329G>A (p.Arg1110His) rs369105119 0.00003
NM_022124.6(CDH23):c.5660C>T (p.Thr1887Ile) rs397517340 0.00003
NM_022124.6(CDH23):c.9014C>G (p.Ala3005Gly) rs188966938 0.00003
NM_022168.4(IFIH1):c.2182C>T (p.Arg728Ter) rs201193151 0.00003
NM_024753.5(TTC21B):c.2100G>A (p.Lys700=) rs368202285 0.00003
NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu) rs576113399 0.00003
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His) rs371947306 0.00003
NM_032193.4(RNASEH2C):c.61T>C (p.Leu21=) rs376140250 0.00003
NM_032492.4(JAGN1):c.336C>T (p.Ile112=) rs368122140 0.00003
NM_138387.4(G6PC3):c.59C>T (p.Ala20Val) rs777505318 0.00003
NM_138694.4(PKHD1):c.3835G>A (p.Ala1279Thr) rs201611688 0.00003
NM_139343.3(BIN1):c.1003-16C>T rs547659375 0.00003
NM_153717.3(EVC):c.771A>G (p.Leu257=) rs756340487 0.00003
NM_170707.4(LMNA):c.1227A>G (p.Thr409=) rs762130433 0.00003
NM_170707.4(LMNA):c.1324G>A (p.Val442Met) rs368542816 0.00003
NM_173551.5(ANKS6):c.1125T>C (p.Ile375=) rs200355078 0.00003
NM_198428.3(BBS9):c.1236C>T (p.Asn412=) rs139235142 0.00003
NM_198428.3(BBS9):c.1606C>T (p.Leu536=) rs576401162 0.00003
NM_201384.3(PLEC):c.13575G>A (p.Ser4525=) rs549882307 0.00003
NM_201384.3(PLEC):c.3501C>T (p.His1167=) rs782038506 0.00003
NM_201384.3(PLEC):c.4083G>A (p.Arg1361=) rs377619355 0.00003
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala) rs372081834 0.00003
NM_206933.4(USH2A):c.7451+3G>A rs397518030 0.00003
NM_000057.4(BLM):c.3019+17T>C rs532036885 0.00002
NM_000211.5(ITGB2):c.742-5C>G rs542698586 0.00002
NM_000231.3(SGCG):c.479T>C (p.Val160Ala) rs527562042 0.00002
NM_000243.3(MEFV):c.2103G>A (p.Ala701=) rs104895095 0.00002
NM_000254.3(MTR):c.2772C>G (p.Leu924=) rs533541925 0.00002
NM_000260.4(MYO7A):c.1006C>T (p.Arg336Cys) rs369997614 0.00002
NM_000277.3(PAH):c.1065+39G>T rs62510582 0.00002
NM_000492.4(CFTR):c.3789T>C (p.Thr1263=) rs200921635 0.00002
NM_000492.4(CFTR):c.3918C>G (p.Pro1306=) rs1800132 0.00002
NM_000543.5(SMPD1):c.234C>T (p.Pro78=) rs575601110 0.00002
NM_000553.6(WRN):c.1378G>A (p.Asp460Asn) rs556958354 0.00002
NM_000784.4(CYP27A1):c.315C>T (p.His105=) rs753981913 0.00002
NM_001017420.3(ESCO2):c.423G>C (p.Gln141His) rs147519828 0.00002
NM_001023570.4(IQCB1):c.1393T>C (p.Tyr465His) rs147708058 0.00002
NM_001040167.2(LFNG):c.988-16C>T rs376736772 0.00002
NM_001044385.3(TMEM237):c.74+16A>G rs538615771 0.00002
NM_001127453.2(GSDME):c.405-12T>C rs202246404 0.00002
NM_001145809.2(MYH14):c.2359G>A (p.Glu787Lys) rs397516628 0.00002
NM_001161403.3(LIMS2):c.510-12G>A rs374991949 0.00002
NM_001199107.2(TBC1D24):c.965+11G>A rs568663296 0.00002
NM_001267550.2(TTN):c.104691G>A (p.Ser34897=) rs369619711 0.00002
NM_001267550.2(TTN):c.17319C>T (p.Asp5773=) rs760724229 0.00002
NM_001267550.2(TTN):c.2160T>G (p.Pro720=) rs776860277 0.00002
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp) rs375627540 0.00002
NM_001267550.2(TTN):c.24075T>G (p.Ile8025Met) rs371496970 0.00002
NM_001267550.2(TTN):c.39085C>A (p.Pro13029Thr) rs397517553 0.00002
NM_001267550.2(TTN):c.58676T>A (p.Leu19559Gln) rs76604657 0.00002
NM_001267550.2(TTN):c.65622T>C (p.Thr21874=) rs55766906 0.00002
NM_001267550.2(TTN):c.67809G>A (p.Ala22603=) rs548223512 0.00002
NM_001267550.2(TTN):c.75745C>T (p.Arg25249Cys) rs397517702 0.00002
NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met) rs377506142 0.00002
NM_001267550.2(TTN):c.84945T>A (p.Thr28315=) rs768116404 0.00002
NM_001267550.2(TTN):c.88895-18C>T rs547463003 0.00002
NM_001267550.2(TTN):c.92715C>T (p.Gly30905=) rs140576051 0.00002
NM_001353108.3(CEP63):c.1068-1G>A rs752207334 0.00002
NM_001384474.1(LOXHD1):c.4886A>G (p.Tyr1629Cys) rs201536647 0.00002
NM_001614.5(ACTG1):c.51C>T (p.Cys17=) rs201570725 0.00002
NM_001614.5(ACTG1):c.861G>A (p.Val287=) rs558300445 0.00002
NM_002180.3(IGHMBP2):c.2979G>A (p.Thr993=) rs201760315 0.00002
NM_002292.4(LAMB2):c.250-14C>T rs371403310 0.00002
NM_002292.4(LAMB2):c.5026G>A (p.Gly1676Arg) rs200747448 0.00002
NM_002292.4(LAMB2):c.5027G>T (p.Gly1676Val) rs199580679 0.00002
NM_004086.3(COCH):c.630-9T>C rs368182881 0.00002
NM_004415.4(DSP):c.6655G>A (p.Val2219Ile) rs397516953 0.00002
NM_004813.4(PEX16):c.694+11C>T rs763840804 0.00002
NM_005219.5(DIAPH1):c.65G>A (p.Ser22Asn) rs1474809251 0.00002
NM_005422.4(TECTA):c.4295A>G (p.Lys1432Arg) rs530918606 0.00002
NM_012210.4(TRIM32):c.370C>T (p.Arg124Trp) rs572052810 0.00002
NM_012414.4(RAB3GAP2):c.2008C>G (p.Leu670Val) rs201613456 0.00002
NM_012414.4(RAB3GAP2):c.2417-4A>G rs577016598 0.00002
NM_015046.7(SETX):c.1492A>G (p.Thr498Ala) rs779544809 0.00002
NM_015046.7(SETX):c.2338A>G (p.Thr780Ala) rs1481664998 0.00002
NM_015046.7(SETX):c.2395C>T (p.His799Tyr) rs200459144 0.00002
NM_015046.7(SETX):c.2425A>G (p.Ile809Val) rs906452681 0.00002
NM_015046.7(SETX):c.2921T>C (p.Ile974Thr) rs765768857 0.00002
NM_015046.7(SETX):c.343C>G (p.Leu115Val) rs538372427 0.00002
NM_015046.7(SETX):c.3605A>G (p.Asp1202Gly) rs138167195 0.00002
NM_015046.7(SETX):c.3770C>T (p.Ser1257Leu) rs773081186 0.00002
NM_015046.7(SETX):c.4369A>G (p.Ile1457Val) rs747804357 0.00002
NM_015046.7(SETX):c.4480G>T (p.Asp1494Tyr) rs202047872 0.00002
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala) rs764920626 0.00002
NM_015046.7(SETX):c.477T>A (p.Phe159Leu) rs1473646250 0.00002
NM_015046.7(SETX):c.5278G>A (p.Ala1760Thr) rs764316153 0.00002
NM_015046.7(SETX):c.5535C>T (p.Arg1845=) rs200433173 0.00002
NM_015046.7(SETX):c.5552G>A (p.Arg1851His) rs137978070 0.00002
NM_015046.7(SETX):c.6356T>C (p.Val2119Ala) rs781741533 0.00002
NM_015046.7(SETX):c.6668A>G (p.Tyr2223Cys) rs747913385 0.00002
NM_015046.7(SETX):c.7967A>G (p.Asn2656Ser) rs745394467 0.00002
NM_015294.6(TRIM37):c.-236A>G rs371575547 0.00002
NM_020458.4(TTC7A):c.570A>G (p.Thr190=) rs565292434 0.00002
NM_020631.6(PLEKHG5):c.440-10C>T rs201656051 0.00002
NM_021942.6(TRAPPC11):c.2050-18C>T rs568036269 0.00002
NM_022336.4(EDAR):c.*1678C>T rs565595816 0.00002
NM_032119.4(ADGRV1):c.14319A>G (p.Ile4773Met) rs201953675 0.00002
NM_032193.4(RNASEH2C):c.*572C>T rs200332583 0.00002
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln) rs201753421 0.00002
NM_153240.5(NPHP3):c.1357C>T (p.Leu453=) rs535110862 0.00002
NM_153240.5(NPHP3):c.3813-10T>C rs372263313 0.00002
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln) rs373718642 0.00002
NM_176824.3(BBS7):c.1337G>A (p.Arg446Gln) rs372685495 0.00002
NM_176824.3(BBS7):c.639C>T (p.Asp213=) rs150407489 0.00002
NM_207361.6(FREM2):c.6826G>A (p.Val2276Met) rs555028352 0.00002
NM_000023.4(SGCA):c.80C>T (p.Thr27Met) rs565069721 0.00001
NM_000057.4(BLM):c.1490A>G (p.Gln497Arg) rs368547042 0.00001
NM_000057.4(BLM):c.1825C>A (p.Pro609Thr) rs770255643 0.00001
NM_000057.4(BLM):c.204C>T (p.Thr68=) rs199927688 0.00001
NM_000057.4(BLM):c.3878A>G (p.Glu1293Gly) rs746979958 0.00001
NM_000163.5(GHR):c.*2294A>G rs368826175 0.00001
NM_000243.3(MEFV):c.1501C>T (p.Arg501Cys) rs104895101 0.00001
NM_000243.3(MEFV):c.1538T>C (p.Ile513Thr) rs104895199 0.00001
NM_000243.3(MEFV):c.2078T>C (p.Met693Thr) rs749052818 0.00001
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met) rs104895102 0.00001
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr) rs104895154 0.00001
NM_000260.4(MYO7A):c.3702C>G (p.Thr1234=) rs77299211 0.00001
NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile) rs397516309 0.00001
NM_000277.3(PAH):c.612T>C (p.Tyr204=) rs62514928 0.00001
NM_000370.3(TTPA):c.471C>A (p.Ile157=) rs572263038 0.00001
NM_000414.4(HSD17B4):c.1192T>C (p.Ser398Pro) rs576803491 0.00001
NM_000492.4(CFTR):c.164+12T>C rs121908790 0.00001
NM_000492.4(CFTR):c.2835G>A (p.Ser945=) rs193922513 0.00001
NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu) rs397508607 0.00001
NM_000492.4(CFTR):c.53+3158A>G rs1264197967 0.00001
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe) rs200652683 0.00001
NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu) rs556155962 0.00001
NM_000760.4(CSF3R):c.1286-3C>T rs778391319 0.00001
NM_000782.5(CYP24A1):c.577C>A (p.Leu193Ile) rs377696502 0.00001
NM_001023570.4(IQCB1):c.776G>A (p.Arg259His) rs374034270 0.00001
NM_001048174.2(MUTYH):c.1206C>T (p.Pro402=) rs752408891 0.00001
NM_001083961.2(WDR62):c.699+16T>C rs201300686 0.00001
NM_001111.5(ADAR):c.2496+8C>T rs770464278 0.00001
NM_001127453.2(GSDME):c.612C>T (p.Asp204=) rs551846110 0.00001
NM_001128178.3(NPHP1):c.294C>T (p.Gly98=) rs747950591 0.00001
NM_001128178.3(NPHP1):c.438T>C (p.Asn146=) rs548684868 0.00001
NM_001128178.3(NPHP1):c.859+5T>C rs374379957 0.00001
NM_001145809.2(MYH14):c.1205A>G (p.Asn402Ser) rs537153044 0.00001
NM_001171.6(ABCC6):c.1258C>G (p.Leu420Val) rs746428588 0.00001
NM_001184.4(ATR):c.7192+18T>C rs1349447137 0.00001
NM_001267550.2(TTN):c.104347C>T (p.Leu34783Phe) rs539735520 0.00001
NM_001267550.2(TTN):c.11506G>A (p.Val3836Met) rs397517825 0.00001
NM_001267550.2(TTN):c.11991T>C (p.Ile3997=) rs565546452 0.00001
NM_001267550.2(TTN):c.1221G>A (p.Glu407=) rs56349212 0.00001
NM_001267550.2(TTN):c.18456T>C (p.His6152=) rs756540833 0.00001
NM_001267550.2(TTN):c.20808G>A (p.Arg6936=) rs773342572 0.00001
NM_001267550.2(TTN):c.27273C>T (p.Cys9091=) rs375546576 0.00001
NM_001267550.2(TTN):c.2730C>T (p.Thr910=) rs375432172 0.00001
NM_001267550.2(TTN):c.27654T>G (p.Val9218=) rs780101457 0.00001
NM_001267550.2(TTN):c.28011C>T (p.Asp9337=) rs757848062 0.00001
NM_001267550.2(TTN):c.30966C>T (p.Asp10322=) rs587780979 0.00001
NM_001267550.2(TTN):c.40408+7_40408+10dup rs397517560 0.00001
NM_001267550.2(TTN):c.41810C>T (p.Ala13937Val) rs545806408 0.00001
NM_001267550.2(TTN):c.43704A>G (p.Val14568=) rs368783829 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.60621T>C (p.Tyr20207=) rs376959563 0.00001
NM_001267550.2(TTN):c.61224G>A (p.Val20408=) rs566188777 0.00001
NM_001267550.2(TTN):c.62275G>A (p.Glu20759Lys) rs562680371 0.00001
NM_001267550.2(TTN):c.63981A>G (p.Val21327=) rs397517656 0.00001
NM_001267550.2(TTN):c.67637-9A>G rs2047164551 0.00001
NM_001267550.2(TTN):c.67960G>C (p.Asp22654His) rs144295295 0.00001
NM_001267550.2(TTN):c.68160C>T (p.Ala22720=) rs397517673 0.00001
NM_001267550.2(TTN):c.72105T>C (p.Phe24035=) rs397517691 0.00001
NM_001267550.2(TTN):c.72803G>A (p.Arg24268His) rs140018785 0.00001
NM_001267550.2(TTN):c.74965G>A (p.Val24989Met) rs567800207 0.00001
NM_001267550.2(TTN):c.7530A>G (p.Ser2510=) rs189187431 0.00001
NM_001267550.2(TTN):c.78942T>C (p.Asp26314=) rs560223850 0.00001
NM_001267550.2(TTN):c.87600G>C (p.Met29200Ile) rs750362675 0.00001
NM_001267550.2(TTN):c.88152G>A (p.Lys29384=) rs1206935877 0.00001
NM_001267550.2(TTN):c.89989T>A (p.Leu29997Met) rs369855092 0.00001
NM_001267550.2(TTN):c.91643C>T (p.Ala30548Val) rs553668520 0.00001
NM_001267550.2(TTN):c.92780T>A (p.Ile30927Lys) rs531432790 0.00001
NM_001267550.2(TTN):c.93868C>T (p.Leu31290=) rs557737090 0.00001
NM_001267550.2(TTN):c.96904+8C>T rs528358945 0.00001
NM_001283009.2(RTEL1):c.1482-10C>G rs754623770 0.00001
NM_001283009.2(RTEL1):c.301+15C>T rs532341610 0.00001
NM_001283009.2(RTEL1):c.3038C>T (p.Ala1013Val) rs569586118 0.00001
NM_001283009.2(RTEL1):c.3499+15T>C rs546556686 0.00001
NM_001329943.3(KIAA0586):c.1323C>T (p.Asp441=) rs574658488 0.00001
NM_001329943.3(KIAA0586):c.4495+3802G>A rs541632685 0.00001
NM_001351132.2(PEX5):c.381T>C (p.Asp127=) rs201467035 0.00001
NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly) rs746702722 0.00001
NM_001378454.1(ALMS1):c.12115-17T>C rs1336665759 0.00001
NM_001378454.1(ALMS1):c.12298+5G>A rs371853987 0.00001
NM_001378454.1(ALMS1):c.3266C>G (p.Thr1089Arg) rs556855697 0.00001
NM_001378454.1(ALMS1):c.5245A>G (p.Thr1749Ala) rs546111188 0.00001
NM_001378454.1(ALMS1):c.9538C>G (p.Arg3180Gly) rs563393715 0.00001
NM_001378454.1(ALMS1):c.975G>A (p.Ser325=) rs370267673 0.00001
NM_001378609.3(OTOGL):c.6429G>A (p.Glu2143=) rs777315488 0.00001
NM_001382391.1(CSPP1):c.1521C>T (p.Pro507=) rs199923715 0.00001
NM_002230.4(JUP):c.1925-19T>G rs545000698 0.00001
NM_002292.4(LAMB2):c.2669C>T (p.Thr890Ile) rs527639885 0.00001
NM_002292.4(LAMB2):c.3071C>T (p.Pro1024Leu) rs368506627 0.00001
NM_002292.4(LAMB2):c.4848G>A (p.Arg1616=) rs567190427 0.00001
NM_002454.3(MTRR):c.780+20T>C rs563392085 0.00001
NM_002485.5(NBN):c.2196A>G (p.Gln732=) rs587780780 0.00001
NM_002617.4(PEX10):c.864C>T (p.Cys288=) rs762621687 0.00001
NM_004086.3(COCH):c.*39G>T rs555882283 0.00001
NM_004086.3(COCH):c.239+5G>A rs563163157 0.00001
NM_004407.4(DMP1):c.1448A>C (p.Asn483Thr) rs574215585 0.00001
NM_004525.3(LRP2):c.11244C>T (p.Asn3748=) rs542010522 0.00001
NM_004525.3(LRP2):c.2636G>C (p.Trp879Ser) rs199581227 0.00001
NM_004525.3(LRP2):c.9342C>T (p.Cys3114=) rs199803029 0.00001
NM_004565.3(PEX14):c.516C>T (p.Ser172=) rs543843635 0.00001
NM_004813.4(PEX16):c.162T>C (p.Ser54=) rs552583175 0.00001
NM_004937.3(CTNS):c.822C>T (p.Leu274=) rs150773117 0.00001
NM_005219.5(DIAPH1):c.*1607C>T rs527786719 0.00001
NM_005219.5(DIAPH1):c.2525A>C (p.Gln842Pro) rs200220260 0.00001
NM_006946.4(SPTBN2):c.4279-8G>A rs369614446 0.00001
NM_012414.4(RAB3GAP2):c.774A>G (p.Leu258=) rs576411922 0.00001
NM_013382.7(POMT2):c.629T>C (p.Met210Thr) rs369654108 0.00001
NM_014028.4(OSTM1):c.960C>G (p.Leu320=) rs201793834 0.00001
NM_014321.4(ORC6):c.*479G>A rs533502054 0.00001
NM_014425.5(INVS):c.1980A>G (p.Gly660=) rs139314036 0.00001
NM_014425.5(INVS):c.3027C>T (p.His1009=) rs201136636 0.00001
NM_014797.3(ZBTB24):c.1746A>G (p.Gln582=) rs755334302 0.00001
NM_014956.5(CEP164):c.3147G>A (p.Glu1049=) rs575735586 0.00001
NM_015046.7(SETX):c.1086A>C (p.Glu362Asp) rs768198537 0.00001
NM_015046.7(SETX):c.1505G>A (p.Arg502Gln) rs750044197 0.00001
NM_015046.7(SETX):c.1714C>G (p.Leu572Val) rs1482836809 0.00001
NM_015046.7(SETX):c.1864G>A (p.Glu622Lys) rs773035724 0.00001
NM_015046.7(SETX):c.1889C>T (p.Thr630Met) rs749132753 0.00001
NM_015046.7(SETX):c.2003A>G (p.Asn668Ser) rs780898043 0.00001
NM_015046.7(SETX):c.208A>G (p.Ile70Val) rs747469176 0.00001
NM_015046.7(SETX):c.2119A>G (p.Ile707Val) rs1419145387 0.00001
NM_015046.7(SETX):c.2125A>G (p.Thr709Ala) rs750530263 0.00001
NM_015046.7(SETX):c.2233C>T (p.Arg745Cys) rs780121182 0.00001
NM_015046.7(SETX):c.2254A>G (p.Thr752Ala) rs745938575 0.00001
NM_015046.7(SETX):c.2427C>G (p.Ile809Met) rs765654690 0.00001
NM_015046.7(SETX):c.245G>A (p.Gly82Glu) rs201864041 0.00001
NM_015046.7(SETX):c.2854A>G (p.Thr952Ala) rs1375463032 0.00001
NM_015046.7(SETX):c.2985A>C (p.Lys995Asn) rs1285317289 0.00001
NM_015046.7(SETX):c.301A>G (p.Ile101Val) rs376848704 0.00001
NM_015046.7(SETX):c.3028C>T (p.Arg1010Cys) rs766799023 0.00001
NM_015046.7(SETX):c.3037G>A (p.Val1013Ile) rs773068299 0.00001
NM_015046.7(SETX):c.3040A>G (p.Ile1014Val) rs761243379 0.00001
NM_015046.7(SETX):c.3355A>G (p.Asn1119Asp) rs200072123 0.00001
NM_015046.7(SETX):c.3410G>A (p.Gly1137Asp) rs62576475 0.00001
NM_015046.7(SETX):c.3433C>T (p.Arg1145Trp) rs375796832 0.00001
NM_015046.7(SETX):c.3680G>T (p.Cys1227Phe) rs750526955 0.00001
NM_015046.7(SETX):c.382C>T (p.Arg128Cys) rs552476047 0.00001
NM_015046.7(SETX):c.4663C>G (p.Leu1555Val) rs558075773 0.00001
NM_015046.7(SETX):c.4738C>T (p.Arg1580Cys) rs752179261 0.00001
NM_015046.7(SETX):c.4970A>G (p.Asn1657Ser) rs567825753 0.00001
NM_015046.7(SETX):c.5008C>A (p.Gln1670Lys) rs762808367 0.00001
NM_015046.7(SETX):c.5171G>A (p.Ser1724Asn) rs770527045 0.00001
NM_015046.7(SETX):c.5302A>T (p.Asn1768Tyr) rs766799310 0.00001
NM_015046.7(SETX):c.5464A>G (p.Lys1822Glu) rs1249423284 0.00001
NM_015046.7(SETX):c.5503G>A (p.Glu1835Lys) rs143133190 0.00001
NM_015046.7(SETX):c.5557G>A (p.Gly1853Arg) rs377620145 0.00001
NM_015046.7(SETX):c.5573A>C (p.Tyr1858Ser) rs747493129 0.00001
NM_015046.7(SETX):c.5839G>A (p.Ala1947Thr) rs141440621 0.00001
NM_015046.7(SETX):c.5936G>A (p.Arg1979His) rs761031238 0.00001
NM_015046.7(SETX):c.6058A>G (p.Ile2020Val) rs546932016 0.00001
NM_015046.7(SETX):c.6313C>T (p.Arg2105Trp) rs142843968 0.00001
NM_015046.7(SETX):c.64G>A (p.Ala22Thr) rs756600708 0.00001
NM_015046.7(SETX):c.6678C>A (p.Asp2226Glu) rs752107891 0.00001
NM_015046.7(SETX):c.7058C>T (p.Thr2353Met) rs201629099 0.00001
NM_015046.7(SETX):c.7417C>G (p.Leu2473Val) rs760196991 0.00001
NM_015046.7(SETX):c.7481A>G (p.Lys2494Arg) rs755711135 0.00001
NM_015046.7(SETX):c.7666T>A (p.Trp2556Arg) rs756715534 0.00001
NM_015046.7(SETX):c.7708C>T (p.Pro2570Ser) rs1240232139 0.00001
NM_015046.7(SETX):c.7720G>A (p.Glu2574Lys) rs145345675 0.00001
NM_015046.7(SETX):c.7778T>C (p.Val2593Ala) rs905773255 0.00001
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln) rs543247171 0.00001
NM_015046.7(SETX):c.7912T>G (p.Phe2638Val) rs144706487 0.00001
NM_015046.7(SETX):c.7972A>G (p.Arg2658Gly) rs779793402 0.00001
NM_015046.7(SETX):c.808A>G (p.Ile270Val) rs1387745582 0.00001
NM_015046.7(SETX):c.866C>T (p.Ala289Val) rs1237541645 0.00001
NM_015046.7(SETX):c.964G>A (p.Ala322Thr) rs540348550 0.00001
NM_015046.7(SETX):c.998A>G (p.Asn333Ser) rs538829833 0.00001
NM_015102.5(NPHP4):c.3645-15C>T rs558429618 0.00001
NM_015311.3(OBSL1):c.600G>A (p.Arg200=) rs373739744 0.00001
NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln) rs544657165 0.00001
NM_016373.4(WWOX):c.538A>G (p.Met180Val) rs569297468 0.00001
NM_018972.4(GDAP1):c.102C>G (p.Ser34=) rs7828201 0.00001
NM_020458.4(TTC7A):c.1203+13A>G rs199621267 0.00001
NM_020631.6(PLEKHG5):c.2250-13C>T rs547780813 0.00001
NM_020631.6(PLEKHG5):c.510G>A (p.Pro170=) rs773624292 0.00001
NM_020779.4(WDR35):c.1845+16G>A rs376710057 0.00001
NM_020964.3(EPG5):c.3582+12G>C rs554695413 0.00001
NM_020964.3(EPG5):c.4584G>C (p.Leu1528Phe) rs199978382 0.00001
NM_022124.6(CDH23):c.2712G>A (p.Pro904=) rs570110527 0.00001
NM_022168.4(IFIH1):c.1096-10T>A rs773810038 0.00001
NM_022168.4(IFIH1):c.622+15A>G rs200515533 0.00001
NM_022168.4(IFIH1):c.919C>T (p.Gln307Ter) rs762821474 0.00001
NM_024649.5(BBS1):c.433-5C>T rs542052064 0.00001
NM_024685.4(BBS10):c.1975A>T (p.Ile659Leu) rs771355732 0.00001
NM_024753.5(TTC21B):c.2258C>T (p.Pro753Leu) rs539769126 0.00001
NM_024753.5(TTC21B):c.481A>G (p.Thr161Ala) rs568969576 0.00001
NM_025114.4(CEP290):c.2587-19T>C rs755086278 0.00001
NM_031885.5(BBS2):c.1134A>G (p.Pro378=) rs185178790 0.00001
NM_032193.4(RNASEH2C):c.198C>T (p.Arg66=) rs200792226 0.00001
NM_033028.5(BBS4):c.17T>C (p.Val6Ala) rs113994185 0.00001
NM_033028.5(BBS4):c.18C>T (p.Val6=) rs113994187 0.00001
NM_033028.5(BBS4):c.20C>T (p.Ala7Val) rs113994186 0.00001
NM_033028.5(BBS4):c.42A>G (p.Val14=) rs113994181 0.00001
NM_033028.5(BBS4):c.91A>G (p.Ile31Val) rs113994182 0.00001
NM_033056.4(PCDH15):c.4719G>A (p.Leu1573=) rs529962978 0.00001
NM_033629.6(TREX1):c.879G>C (p.Leu293=) rs368090024 0.00001
NM_138694.4(PKHD1):c.1929C>A (p.Thr643=) rs775144938 0.00001
NM_138694.4(PKHD1):c.6475G>A (p.Ala2159Thr) rs750822014 0.00001
NM_138694.4(PKHD1):c.7482A>T (p.Gly2494=) rs199996156 0.00001
NM_138694.4(PKHD1):c.7873T>C (p.Leu2625=) rs140033417 0.00001
NM_153717.3(EVC):c.1428G>C (p.Glu476Asp) rs571637567 0.00001
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln) rs267607598 0.00001
NM_173551.5(ANKS6):c.2613G>A (p.Ala871=) rs376268978 0.00001
NM_178170.3(NEK8):c.1732+19C>A rs534019850 0.00001
NM_182961.4(SYNE1):c.11238A>G (p.Lys3746=) rs149393972 0.00001
NM_182961.4(SYNE1):c.4889C>T (p.Ala1630Val) rs566004273 0.00001
NM_194292.3(SASS6):c.86G>A (p.Ser29Asn) rs150589706 0.00001
NM_201384.3(PLEC):c.10248C>T (p.Gly3416=) rs200805625 0.00001
NM_201384.3(PLEC):c.10830C>T (p.Ala3610=) rs80304210 0.00001
NM_201384.3(PLEC):c.12354C>T (p.Leu4118=) rs782692436 0.00001
NM_201384.3(PLEC):c.12549C>T (p.Ile4183=) rs199512865 0.00001
NM_201384.3(PLEC):c.465G>A (p.Ser155=) rs398123399 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.1047T>C (p.Asp349=) rs775053681 0.00001
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579 0.00001
NM_206933.4(USH2A):c.9259-14A>C rs561590242 0.00001
NM_207361.6(FREM2):c.9184G>T (p.Ala3062Ser) rs140456319 0.00001
NC_000002.11:g.(?_110849180)_(110962545_?)dup
NC_000002.11:g.(?_110879913)_(110963639_?)dup
NC_000002.11:g.(?_110881368)_(110937261_?)dup
NC_000007.13:g.117188661_117188689=
NC_000007.14:g.117479234del rs4148683
NC_000008.11:g.74350373_74350374del rs577136201
NC_000008.11:g.89984913_89984916del rs36226237
NC_000009.12:g.34637993_34637994delinsAA rs371780375
NC_000016.10:g.13919809A>C rs6498486
NC_000016.9:g.(?_75573892)_(75575373_?)dup
NC_000016.9:g.(?_75573892)_(75576601_?)dup
NM_000019.3(ACAT1):c.*777_*780delAATT rs112801981
NM_000019.4(ACAT1):c.*6dup rs111390656
NM_000019.4(ACAT1):c.-22C>G rs3741054
NM_000019.4(ACAT1):c.239-10_239-8del
NM_000019.4(ACAT1):c.239-11_239-8del
NM_000019.4(ACAT1):c.239-8del rs201199156
NM_000019.4(ACAT1):c.239-9_239-8del rs201199156
NM_000019.4(ACAT1):c.334+172C>G rs12226047
NM_000019.4(ACAT1):c.335-3del
NM_000019.4(ACAT1):c.436-4G>A rs3741050
NM_000019.4(ACAT1):c.826+85_826+86insGTAA rs10682490
NM_000019.4(ACAT1):c.940+84C>T rs12794010
NM_000019.4(ACAT1):c.941-7del rs376661693
NM_000023.4(SGCA):c.38-46G>C rs142537375
NM_000023.4(SGCA):c.386-16del rs556088617
NM_000023.4(SGCA):c.983+22del
NM_000057.4(BLM):c.1216A>G (p.Ile406Val) rs769498398
NM_000057.4(BLM):c.1220+18del
NM_000057.4(BLM):c.1221-11del
NM_000057.4(BLM):c.2074+12dup
NM_000057.4(BLM):c.2307+23del
NM_000057.4(BLM):c.2406+16del
NM_000057.4(BLM):c.2406+16dup rs769233210
NM_000057.4(BLM):c.2407-7del rs769184675
NM_000057.4(BLM):c.2407-9del rs747699258
NM_000057.4(BLM):c.2407-9dup rs747699258
NM_000057.4(BLM):c.2556-130C>T rs28385056
NM_000057.4(BLM):c.2603_2605delinsTAG (p.Pro868_Lys869delinsLeuGlu)
NM_000057.4(BLM):c.2603_2614delinsTAGAAAAGACT (p.Pro868fs)
NM_000057.4(BLM):c.3020-3del rs1596259793
NM_000057.4(BLM):c.3210+9del
NM_000057.4(BLM):c.3210+9dup rs1233313033
NM_000057.4(BLM):c.3752-15del
NM_000057.4(BLM):c.4077-59_4077-57dup rs10685387
NM_000057.4(BLM):c.455A>G (p.Asn152Ser) rs749633106
NM_000057.4(BLM):c.799+7A>G rs1596219393
NM_000057.4(BLM):c.800-120T>C rs7183841
NM_000057.4(BLM):c.960-9del
NM_000057.4(BLM):c.98+11del rs2151145130
NM_000070.3(CAPN3):c.1354+24dup
NM_000070.3(CAPN3):c.1915-12G>A
NM_000070.3(CAPN3):c.2051-3C>A rs201294691
NM_000070.3(CAPN3):c.2051-3del rs781378527
NM_000070.3(CAPN3):c.2263+18del
NM_000070.3(CAPN3):c.2440-10CTT[3]
NM_000079.4(CHRNA1):c.190-5del rs34695580
NM_000079.4(CHRNA1):c.779-13_779-12del rs67309103
NM_000082.4(ERCC8):c.*583T>C rs4647158
NM_000083.3(CLCN1):c.853+17del
NM_000083.3(CLCN1):c.853+17dup
NM_000083.3(CLCN1):c.853+23dup
NM_000091.5(COL4A3):c.127G>C (p.Gly43Arg) rs13424243
NM_000091.5(COL4A3):c.3419-4del rs35803812
NM_000091.5(COL4A3):c.4253-51G>A rs73993953
NM_000091.5(COL4A3):c.441+150G>T rs10168567
NM_000092.5(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.5(COL4A4):c.3214+129G>C rs2272203
NM_000123.4(ERCC5):c.788G>A (p.Arg263Gln) rs61749896
NM_000124.4(ERCC6):c.*2946C>T rs146529081
NM_000124.4(ERCC6):c.-87C>A rs4253004
NM_000124.4(ERCC6):c.3689G>C (p.Arg1230Pro) rs4253211
NM_000124.4(ERCC6):c.3774A>G (p.Lys1258=) rs35756610
NM_000162.5(GCK):c.-217C>G rs73691419
NM_000162.5(GCK):c.-267G>T rs59914952
NM_000163.5(GHR):c.*1498TTG[6] rs398064766
NM_000163.5(GHR):c.484G>A (p.Val162Ile) rs6413484
NM_000165.5(GJA1):c.717G>A (p.Arg239=) rs57946868
NM_000180.4(GUCY2D):c.11G>A (p.Cys4Tyr)
NM_000180.4(GUCY2D):c.1956+15del
NM_000180.4(GUCY2D):c.2114-9del rs2151802761
NM_000180.4(GUCY2D):c.2769+16del
NM_000180.4(GUCY2D):c.3043+11C>T rs116870332
NM_000180.4(GUCY2D):c.3043+15del
NM_000180.4(GUCY2D):c.3225-10del rs750454050
NM_000208.4(INSR):c.*1416del rs3833238
NM_000208.4(INSR):c.*288del rs35434645
NM_000208.4(INSR):c.*930dup rs34045095
NM_000208.4(INSR):c.1638C>T (p.Asp546=) rs2229429
NM_000208.4(INSR):c.1650G>A (p.Ala550=) rs2059806
NM_000208.4(INSR):c.2526G>C (p.Ala842=) rs2229430
NM_000208.4(INSR):c.653-23TC[11] rs3835070
NM_000208.4(INSR):c.653-23TC[9] rs3835070
NM_000211.5(ITGB2):c.*145C>A rs1160263
NM_000211.5(ITGB2):c.*171G>C rs6570
NM_000211.5(ITGB2):c.*370G>T rs117989670
NM_000211.5(ITGB2):c.13C>T (p.Arg5Cys) rs61737078
NM_000211.5(ITGB2):c.1878-45dup rs35293792
NM_000211.5(ITGB2):c.2247+57C>T rs33973568
NM_000211.5(ITGB2):c.59-16C>T
NM_000211.5(ITGB2):c.741+16del rs375487126
NM_000211.5(ITGB2):c.742-16del
NM_000211.5(ITGB2):c.742-21dup rs760281688
NM_000231.3(SGCG):c.196-18_196-15del
NM_000231.3(SGCG):c.196-6del rs568365779
NM_000231.3(SGCG):c.196-6dup rs568365779
NM_000231.3(SGCG):c.196-7_196-6del rs568365779
NM_000231.3(SGCG):c.196-8_196-6del
NM_000231.3(SGCG):c.505+22del
NM_000231.3(SGCG):c.506-14dup
NM_000231.3(SGCG):c.578+14T>C
NM_000231.3(SGCG):c.579-20G>T
NM_000231.3(SGCG):c.579-24T>G rs1536729
NM_000231.3(SGCG):c.579-26T>G rs1536728
NM_000232.5(SGCB):c.430-5del rs762831481
NM_000232.5(SGCB):c.430-5dup rs762831481
NM_000232.5(SGCB):c.622-11del
NM_000232.5(SGCB):c.753+10_753+12del rs138604476
NM_000243.3(MEFV):c.*743T>C rs170387
NM_000243.3(MEFV):c.1092G>T (p.Pro364=) rs11466022
NM_000243.3(MEFV):c.1223G>T (p.Arg408Leu) rs11466024
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000243.3(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000243.3(MEFV):c.585G>A (p.Glu195=) rs200766991
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000243.3(MEFV):c.911-18dup
NM_000245.4(MET):c.2584-9del rs57349036
NM_000254.3(MTR):c.*16del rs67705775
NM_000254.3(MTR):c.1305T>C (p.Ile435=)
NM_000254.3(MTR):c.1516-15dup
NM_000254.3(MTR):c.2197-6dup
NM_000254.3(MTR):c.2474-18del rs150727404
NM_000254.3(MTR):c.2474-4del rs546254033
NM_000254.3(MTR):c.2474-4dup rs546254033
NM_000254.3(MTR):c.2474-5_2474-4del rs546254033
NM_000254.3(MTR):c.2474-5_2474-4dup rs546254033
NM_000254.3(MTR):c.2595-3del
NM_000254.3(MTR):c.2655C>T (p.Asp885=)
NM_000254.3(MTR):c.2676+23dup
NM_000254.3(MTR):c.2776-6dup
NM_000254.3(MTR):c.3712-5del
NM_000254.3(MTR):c.409+25dup
NM_000254.3(MTR):c.609+20dup
NM_000254.3(MTR):c.610-10del
NM_000254.3(MTR):c.742G>A (p.Val248Met) rs142648132
NM_000254.3(MTR):c.765-13dup
NM_000254.3(MTR):c.865+18dup
NM_000254.3(MTR):c.927+14dup
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000260.4(MYO7A):c.1343+8G>A rs2276278
NM_000260.4(MYO7A):c.1554+244T>C rs3740763
NM_000260.4(MYO7A):c.2447G>A (p.Arg816His) rs148343670
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.4(MYO7A):c.2695-58C>G rs3740762
NM_000260.4(MYO7A):c.3109-16_3109-15insTGCGCTCTGGCCTCTGACATGCGCGCTCTGGCCTCTGACATG rs149931272
NM_000260.4(MYO7A):c.3375+33G>C rs948972
NM_000260.4(MYO7A):c.3503+12_3503+33del rs111033223
NM_000260.4(MYO7A):c.3924+109G>A rs4944148
NM_000260.4(MYO7A):c.3924+31_3924+46del rs759572835
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp) rs111033287
NM_000260.4(MYO7A):c.5598C>A (p.Leu1866=) rs111033504
NM_000260.4(MYO7A):c.5598C>T (p.Leu1866=) rs111033504
NM_000260.4(MYO7A):c.5860C>A (p.Leu1954Ile) rs948962
NM_000260.4(MYO7A):c.6559-11C>T rs34517202
NM_000260.4(MYO7A):c.93C>T (p.Cys31=) rs35689081
NM_000271.5(NPC1):c.1327-12dup
NM_000271.5(NPC1):c.1327-16dup
NM_000271.5(NPC1):c.1554-1057G>C rs189881566
NM_000271.5(NPC1):c.1926G>T (p.Met642Ile)
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.1947+10_1947+11insGGGT rs778092499
NM_000271.5(NPC1):c.1947+10_1947+11insGGGTG rs778092499
NM_000271.5(NPC1):c.1947+11_1947+12insGGGT rs1555634668
NM_000271.5(NPC1):c.1947+12_1947+13insGGGA rs1555634656
NM_000271.5(NPC1):c.1947+12_1947+13insGGGGC rs199713263
NM_000271.5(NPC1):c.1947+12_1947+13insGGGT rs1555634656
NM_000271.5(NPC1):c.1947+15_1947+16insGC rs72283949
NM_000271.5(NPC1):c.1947+16del rs3837910
NM_000271.5(NPC1):c.1947+7_1947+8insCGG rs1555634618
NM_000271.5(NPC1):c.1947+7_1947+8insCGGG rs1555634618
NM_000271.5(NPC1):c.1947+8_1947+10dup rs3837910
NM_000271.5(NPC1):c.1947+8_1947+11dup rs3837910
NM_000271.5(NPC1):c.1947+8_1947+9dup rs3837910
NM_000271.5(NPC1):c.1947+8dup rs3837910
NM_000271.5(NPC1):c.1947+9_1947+10insT rs1555634683
NM_000271.5(NPC1):c.2131-4del rs11299077
NM_000271.5(NPC1):c.2131-5_2131-4del rs11299077
NM_000271.5(NPC1):c.2605-14del
NM_000271.5(NPC1):c.3246-6dup
NM_000271.5(NPC1):c.3561G>A (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.3755-16TC[5] rs760529810
NM_000271.5(NPC1):c.966C>T (p.Ser322=) rs61731965
NM_000272.3(NPHP1):c.(?_-1)_(*1_?)dup
NM_000272.3(NPHP1):c.625-3dup rs200118387
NM_000277.3(PAH):c.330A>G (p.Ser110=)
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000277.3(PAH):c.510-20_510-18dup rs398123293
NM_000277.3(PAH):c.707-59C>G
NM_000277.3(PAH):c.912+18dup
NM_000281.4(PCBD1):c.4-12del
NM_000281.4(PCBD1):c.4-12dup
NM_000286.3(PEX12):c.*880_*883del rs35050283
NM_000286.3(PEX12):c.681-3_681-2del rs138568975
NM_000287.4(PEX6):c.*438TAAA[1] rs144286892
NM_000287.4(PEX6):c.1234-8_1234-7dup rs200121485
NM_000287.4(PEX6):c.235G>C (p.Ala79Pro) rs61752141
NM_000287.4(PEX6):c.969C>T (p.Ile323=) rs143001881
NM_000288.4(PEX7):c.-65A>T rs190537612
NM_000288.4(PEX7):c.-95T>C rs1321471
NM_000288.4(PEX7):c.131-9del rs760985736
NM_000288.4(PEX7):c.131-9dup
NM_000288.4(PEX7):c.527-6dup
NM_000288.4(PEX7):c.747+17del rs2115224706
NM_000288.4(PEX7):c.747+20_747+24del rs199624608
NM_000288.4(PEX7):c.748-5del rs563675060
NM_000288.4(PEX7):c.748-5dup rs563675060
NM_000288.4(PEX7):c.748-6_748-5dup
NM_000288.4(PEX7):c.904-10del
NM_000302.4(PLOD1):c.1903-14dup rs748794198
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn) rs142978362
NM_000302.4(PLOD1):c.577A>C (p.Arg193=) rs569590633
NM_000302.4(PLOD1):c.76+22del
NM_000302.4(PLOD1):c.77-3339C>T
NM_000317.3(PTS):c.315-8del
NM_000317.3(PTS):c.315-8dup
NM_000320.3(QDPR):c.*682A>G rs699459
NM_000320.3(QDPR):c.199-16dup rs1277522602
NM_000320.3(QDPR):c.630-20del rs746771741
NM_000320.3(QDPR):c.630-20dup
NM_000329.3(RPE65):c.1302G>A (p.Ala434=) rs62636301
NM_000329.3(RPE65):c.1302G>C (p.Ala434=) rs62636301
NM_000329.3(RPE65):c.432C>T (p.Tyr144=) rs56021047
NM_000329.3(RPE65):c.859-5dup
NM_000334.4(SCN4A):c.*981G>A rs144800677
NM_000337.5(SGCD):c.-626_-616del rs149976574
NM_000337.6(SGCD):c.-94C>G rs13170573
NM_000337.6(SGCD):c.105G>C (p.Leu35=) rs193922392
NM_000337.6(SGCD):c.226G>T (p.Gly76Cys) rs376659221
NM_000337.6(SGCD):c.503-16del rs1561835980
NM_000337.6(SGCD):c.516A>G (p.Thr172=) rs753952200
NM_000337.6(SGCD):c.699+13_699+15del rs397517924
NM_000360.4(TH):c.1048-110A>C rs4072823
NM_000360.4(TH):c.576+16dup rs1238963534
NM_000360.4(TH):c.644+15C>A rs191712999
NM_000360.4(TH):c.644+15C>T rs191712999
NM_000360.4(TH):c.644+8dup
NM_000360.4(TH):c.696-138G>A rs7925784
NM_000370.3(TTPA):c.*576_*578del rs10543235
NM_000370.3(TTPA):c.359-3del rs398123340
NM_000382.3(ALDH3A2):c.*1256C>G
NM_000382.3(ALDH3A2):c.*1362G>A
NM_000382.3(ALDH3A2):c.*1462G>A
NM_000382.3(ALDH3A2):c.*1609A>G
NM_000382.3(ALDH3A2):c.*1802A>G
NM_000382.3(ALDH3A2):c.*1877CA[1]
NM_000382.3(ALDH3A2):c.*694C>T
NM_000382.3(ALDH3A2):c.*973T>C
NM_000382.3(ALDH3A2):c.-154G>A
NM_000382.3(ALDH3A2):c.1207+130del rs59755039
NM_000382.3(ALDH3A2):c.681-37_681-30del rs3034928
NM_000414.4(HSD17B4):c.*250dup rs34381335
NM_000414.4(HSD17B4):c.-27G>C rs34604765
NM_000414.4(HSD17B4):c.-75C>G rs26180
NM_000414.4(HSD17B4):c.1209+17dup
NM_000414.4(HSD17B4):c.1210-17del rs781059702
NM_000414.4(HSD17B4):c.1334-4del rs2126813978
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000414.4(HSD17B4):c.1503+16dup
NM_000414.4(HSD17B4):c.1503+22del
NM_000414.4(HSD17B4):c.1670A>C (p.Lys557Thr)
NM_000414.4(HSD17B4):c.1767+18del
NM_000414.4(HSD17B4):c.302+23del
NM_000414.4(HSD17B4):c.739+20dup
NM_000414.4(HSD17B4):c.972+15del rs763801604
NM_000426.4(LAMA2):c.3296A>G (p.Asn1099Ser) rs35065563
NM_000441.2(SLC26A4):c.-66C>G rs17154282
NM_000441.2(SLC26A4):c.2090-59AAAC[3] rs112211967
NM_000466.3(PEX1):c.1077G>A (p.Lys359=) rs138905930
NM_000466.3(PEX1):c.1142C>A (p.Ala381Asp) rs73404416
NM_000466.3(PEX1):c.1239+15del
NM_000466.3(PEX1):c.1240-10del rs1298492061
NM_000466.3(PEX1):c.1434T>G (p.Leu478=) rs757668497
NM_000466.3(PEX1):c.1671-5dup rs1792230930
NM_000466.3(PEX1):c.1804-12A>T rs143041528
NM_000466.3(PEX1):c.2417-17dup
NM_000466.3(PEX1):c.2417-7del
NM_000466.3(PEX1):c.2583+15dup rs761003048
NM_000466.3(PEX1):c.2584-10T>C rs375129444
NM_000466.3(PEX1):c.2584-10del rs5885806
NM_000466.3(PEX1):c.2584-11_2584-10del rs5885806
NM_000466.3(PEX1):c.2584-21_2584-20dup rs5885806
NM_000466.3(PEX1):c.2584-21dup rs5885806
NM_000466.3(PEX1):c.2927-14_2927-13del rs765202366
NM_000466.3(PEX1):c.2927-19dup
NM_000466.3(PEX1):c.3637-8del rs775743560
NM_000466.3(PEX1):c.3637-8dup rs775743560
NM_000466.3(PEX1):c.3768-4dup rs1459472276
NM_000466.3(PEX1):c.468A>G (p.Gln156=) rs149729088
NM_000492.3(CFTR):c.-288G>C rs139688774
NM_000492.3(CFTR):c.-85C>G rs530414231
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.3(CFTR):c.1210-17_1210-12del rs3832534
NM_000492.4(CFTR):c.*133del rs145697705
NM_000492.4(CFTR):c.*133dup rs145697705
NM_000492.4(CFTR):c.1209+18dup
NM_000492.4(CFTR):c.1210-12= rs1805177
NM_000492.4(CFTR):c.1210-12_1210-11insGTGTT rs756031917
NM_000492.4(CFTR):c.1210-12_1210-11insGTGTTT rs756031917
NM_000492.4(CFTR):c.1210-12_1210-11insGTT rs756031917
NM_000492.4(CFTR):c.1210-12_1210-11insGTTT rs756031917
NM_000492.4(CFTR):c.1210-13_1210-10del rs765376630
NM_000492.4(CFTR):c.1210-13_1210-11del rs2115902247
NM_000492.4(CFTR):c.1210-15_1210-10del rs2115902212
NM_000492.4(CFTR):c.1210-15_1210-13delinsT rs1584793324
NM_000492.4(CFTR):c.1210-17_1210-10del rs1799207704
NM_000492.4(CFTR):c.1210-17_1210-11del rs2115902199
NM_000492.4(CFTR):c.1210-34=
NM_000492.4(CFTR):c.1210-34TG[10] rs3832534
NM_000492.4(CFTR):c.1210-34TG[12] rs3832534
NM_000492.4(CFTR):c.1210-34TG[13] rs3832534
NM_000492.4(CFTR):c.1210-34TG[9] rs3832534
NM_000492.4(CFTR):c.1210-6dup rs1805177
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys) rs4727853
NM_000492.4(CFTR):c.1392+11del
NM_000492.4(CFTR):c.1392+60dup rs746240178
NM_000492.4(CFTR):c.1584+19del
NM_000492.4(CFTR):c.1584+53_1584+63dup rs397508232
NM_000492.4(CFTR):c.1585-9218G>A
NM_000492.4(CFTR):c.1680-1071A>G
NM_000492.4(CFTR):c.1680-717A>G
NM_000492.4(CFTR):c.1767-12del
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.4(CFTR):c.2619+86_2619+87del rs4148712
NM_000492.4(CFTR):c.273+46T>G rs1227927169
NM_000492.4(CFTR):c.2989-81del rs4148715
NM_000492.4(CFTR):c.3368-13del
NM_000492.4(CFTR):c.3465C>A (p.Ser1155Arg)
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val) rs397508617
NM_000492.4(CFTR):c.3874-105T>G rs1584842682
NM_000492.4(CFTR):c.3874-8del rs1562926012
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.4137-5dup rs1171674692
NM_000492.4(CFTR):c.4243-16A>G rs780125251
NM_000492.4(CFTR):c.4243-35del rs193922527
NM_000492.4(CFTR):c.744-33=
NM_000492.4(CFTR):c.744-33GATT[5] rs1805171
NM_000492.4(CFTR):c.744-33GATT[6] rs1805171
NM_000492.4(CFTR):c.744-33GATT[8] rs1805171
NM_000492.4(CFTR):c.870-5del rs759762840
NM_000492.4(CFTR):c.870-7_870-5del rs759762840
NM_000506.5(F2):c.1003+18C>T
NM_000506.5(F2):c.423-7G>C rs2070852
NM_000506.5(F2):c.559+20G>T
NM_000506.5(F2):c.80-13dup
NM_000506.5(F2):c.875-19G>A
NM_000543.4(SMPD1):c.126_143del (p.Ala44_Leu49del) rs3838786
NM_000543.5(SMPD1):c.*294G>C rs12278115
NM_000543.5(SMPD1):c.106_107insCGCTGG (p.Leu35_Val36insAlaLeu) rs1554933800
NM_000543.5(SMPD1):c.106_107insCGCTGGCGCTGG (p.Leu35_Val36insAlaLeuAlaLeu) rs1554933800
NM_000543.5(SMPD1):c.107_112del (p.Val36_Leu37del) rs775860642
NM_000543.5(SMPD1):c.107_118del (p.Val36_Leu39del) rs550365194
NM_000543.5(SMPD1):c.107_124del (p.Val36_Leu41del) rs794726889
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5]) rs3838786
NM_000543.5(SMPD1):c.108_109insGCG (p.Val36_Leu37insAla) rs775568984
NM_000543.5(SMPD1):c.108_109insGCGCTGGCG (p.Val36_Leu37insAlaLeuAla) rs775568984
NM_000553.6(WRN):c.1247A>G (p.Asp416Gly) rs560922465
NM_000553.6(WRN):c.1432-11del
NM_000553.6(WRN):c.16T>C (p.Leu6=) rs202148988
NM_000553.6(WRN):c.1721-10dup
NM_000553.6(WRN):c.1898+15del rs1813762165
NM_000553.6(WRN):c.1982-13del
NM_000553.6(WRN):c.1982-5del rs397723919
NM_000553.6(WRN):c.1982-6_1982-5del rs397723919
NM_000553.6(WRN):c.2089-12del
NM_000553.6(WRN):c.210-11dup rs2130031812
NM_000553.6(WRN):c.2630+10dup rs747115098
NM_000553.6(WRN):c.2733-12del
NM_000553.6(WRN):c.2826-7del
NM_000553.6(WRN):c.3139-12del
NM_000553.6(WRN):c.3139-6dup
NM_000553.6(WRN):c.3233+20del
NM_000553.6(WRN):c.3233+20dup rs758713751
NM_000553.6(WRN):c.3234-130T>C rs2725364
NM_000553.6(WRN):c.3234-13dup rs1802686931
NM_000553.6(WRN):c.3384-12del
NM_000553.6(WRN):c.3460-7dup
NM_000553.6(WRN):c.356-9dup rs2130035725
NM_000553.6(WRN):c.3687+6dup
NM_000553.6(WRN):c.3983-12del
NM_000553.6(WRN):c.3983-12dup rs368931913
NM_000553.6(WRN):c.4180A>G (p.Ile1394Val) rs545431480
NM_000553.6(WRN):c.655-5dup
NM_000553.6(WRN):c.725-4dup
NM_000553.6(WRN):c.725-9del rs543830844
NM_000553.6(WRN):c.839+25del rs370040831
NM_000553.6(WRN):c.840-3del rs753661471
NM_000553.6(WRN):c.840-3dup rs753661471
NM_000553.6(WRN):c.840-4_840-3dup
NM_000554.6(CRX):c.*1900del rs796977583
NM_000554.6(CRX):c.*308AAG[2] rs398059782
NM_000601.6(HGF):c.866-22del rs5745686
NM_000782.5(CYP24A1):c.-154T>G rs75209626
NM_000782.5(CYP24A1):c.114G>T (p.Pro38=) rs61749689
NM_000782.5(CYP24A1):c.469C>A (p.Arg157=) rs35873579
NM_000784.3(CYP27A1):c.-357dup rs397795841
NM_000784.4(CYP27A1):c.1017+14del rs372792485
NM_000784.4(CYP27A1):c.1263+10del rs765426068
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000784.4(CYP27A1):c.1477-3del rs2105981409
NM_000784.4(CYP27A1):c.1477-3dup
NM_000784.4(CYP27A1):c.366= (p.Gly122=) rs1051087
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val) rs59443548
NM_000784.4(CYP27A1):c.852G>A (p.Lys284=) rs587778814
NM_001005207.3(TRIM37):c.-449dupC rs35129177
NM_001005920.4(JMJD8):c.*506del rs3216838
NM_001017420.3(ESCO2):c.*130G>A rs62498042
NM_001017420.3(ESCO2):c.*481del rs111395487
NM_001023570.4(IQCB1):c.*197G>C rs1135750
NM_001023570.4(IQCB1):c.-147_-142del rs72421117
NM_001023570.4(IQCB1):c.1279-8del rs758519096
NM_001023570.4(IQCB1):c.1410+74AT[4] rs1553709033
NM_001023570.4(IQCB1):c.1410+81GT[17] rs57816005
NM_001023570.4(IQCB1):c.1568-19del rs148949254
NM_001023570.4(IQCB1):c.394-15_394-10dup rs768572151
NM_001023570.4(IQCB1):c.488-13del rs753164790
NM_001023570.4(IQCB1):c.488-13dup rs753164790
NM_001023570.4(IQCB1):c.588-16del rs574290389
NM_001023570.4(IQCB1):c.588-25dup rs574290389
NM_001023570.4(IQCB1):c.775C>T (p.Arg259Cys) rs778777181
NM_001023570.4(IQCB1):c.986+9del
NM_001034852.3(SMOC1):c.126G>A (p.Gln42=) rs3742909
NM_001034852.3(SMOC1):c.858-27del rs139924326
NM_001038603.3(MARVELD2):c.1147-9T>G rs299099
NM_001039141.3(TRIOBP):c.1193_1195del (p.Gln398del) rs55745992
NM_001039141.3(TRIOBP):c.1478G>A (p.Ser493Asn) rs4821700
NM_001039141.3(TRIOBP):c.6472+19dup rs3833924
NM_001039958.1(MESP2):c.535GGGCAGGGGCAA[2_4] rs397507446
NM_001039958.2(MESP2):c.197C>G (p.Ala66Gly) rs71647809
NM_001039958.2(MESP2):c.498C>A (p.Pro166=) rs200336355
NM_001039958.2(MESP2):c.498C>G (p.Pro166=) rs200336355
NM_001039958.2(MESP2):c.534GGGGCAGGGGCAAGGGCAGGGGCA[1] (p.180QG[9]) rs200021459
NM_001039958.2(MESP2):c.549_584del (p.180_181QG[7]) rs749710849
NM_001039958.2(MESP2):c.552GGGGCA[1] (p.180QG[11]) rs56192595
NM_001039958.2(MESP2):c.670T>C (p.Ser224Pro) rs118204033
NM_001040167.2(LFNG):c.1104G>A (p.Pro368=) rs544123371
NM_001042472.3(ABHD12):c.*321G>T rs534140287
NM_001042472.3(ABHD12):c.-40_-39insGGCGGAGGC rs3833297
NM_001042472.3(ABHD12):c.1029+247_1029+248insC rs3215644
NM_001042472.3(ABHD12):c.191+24G>C rs77202707
NM_001042517.2(DIAPH3):c.1840C>A (p.Pro614Thr) rs200018583
NM_001042545.2(LTBP4):c.*86C>T rs10424186
NM_001042545.2(LTBP4):c.2565C>T (p.Asp855=) rs2077407
NM_001042545.2(LTBP4):c.3035dup (p.Tyr1013fs) rs59030801
NM_001042702.5(PJVK):c.793C>G (p.Arg265Gly) rs17304212
NM_001042702.5(PJVK):c.793C>T (p.Arg265Cys) rs17304212
NM_001044385.3(TMEM237):c.1159+17del rs766664373
NM_001044385.3(TMEM237):c.1159+17dup
NM_001044385.3(TMEM237):c.678-20_678-17del rs754336127
NM_001044385.3(TMEM237):c.80-18dup rs747217784
NM_001044385.3(TMEM237):c.870-13_870-12del rs555284377
NM_001048166.1(STIL):c.*577G>A rs11211487
NM_001048166.1(STIL):c.1452C>G (p.Ser484=) rs10789505
NM_001048174.2(MUTYH):c.-6-12dup rs1557493461
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001048174.2(MUTYH):c.305-3del
NM_001048174.2(MUTYH):c.606+21C>A rs148552450
NM_001048174.2(MUTYH):c.914-15del
NM_001077365.2(POMT1):c.*285A>G rs4740259
NM_001077365.2(POMT1):c.123-5del
NM_001077365.2(POMT1):c.123-5dup rs148086540
NM_001077365.2(POMT1):c.123-6_123-5dup rs148086540
NM_001077365.2(POMT1):c.1584+18dup
NM_001077365.2(POMT1):c.1698+11G>C rs115243626
NM_001077365.2(POMT1):c.605+13dup
NM_001077365.2(POMT1):c.699+80del
NM_001079802.2(FKTN):c.-45G>T rs77013649
NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn) rs58447305
NM_001080414.4(CCDC88C):c.61-85T>C rs1285844
NM_001080449.3(DNA2):c.1057+19del rs34922453
NM_001080449.3(DNA2):c.2697+13del rs370068890
NM_001080476.3(GRXCR1):c.25G>A (p.Glu9Lys) rs78136490
NM_001080476.3(GRXCR1):c.627+8A>C rs10213360
NM_001081.4(CUBN):c.10656C>A (p.Asn3552Lys) rs1801232
NM_001081.4(CUBN):c.10656C>T (p.Asn3552=) rs1801232
NM_001081.4(CUBN):c.1911C>T (p.Leu637=) rs41289311
NM_001081.4(CUBN):c.5305G>A (p.Val1769Ile) rs74116778
NM_001081.4(CUBN):c.5911C>A (p.Pro1971Thr) rs2356590
NM_001081.4(CUBN):c.7346T>C (p.Met2449Thr) rs41301097
NM_001083961.2(WDR62):c.1233+11C>A rs116050630
NM_001083961.2(WDR62):c.1233+13C>T rs76130844
NM_001083961.2(WDR62):c.1315T>G (p.Phe439Val) rs75230537
NM_001083961.2(WDR62):c.1641G>A (p.Thr547=) rs2301734
NM_001083961.2(WDR62):c.2112G>C (p.Ser704=) rs115453534
NM_001083961.2(WDR62):c.2334-29C>T rs2301737
NM_001083961.2(WDR62):c.2739+17C>A rs144527765
NM_001098484.3(SLC4A4):c.*411G>C rs1453452
NM_001098484.3(SLC4A4):c.*989T>A rs34921070
NM_001098484.3(SLC4A4):c.1904-74_1904-73del rs747897537
NM_001099287.2(NIPAL4):c.*804T>A rs80315032
NM_001101426.4(CRPPA):c.1120-12del
NM_001101426.4(CRPPA):c.360C>T (p.Val120=) rs183141256
NM_001101426.4(CRPPA):c.534+13dup
NM_001101426.4(CRPPA):c.685-25GTT[6] rs142647500
NM_001101426.4(CRPPA):c.836-19_836-18dup rs3839757
NM_001101426.4(CRPPA):c.836-19dup rs3839757
NM_001101426.4(CRPPA):c.836-9del rs3839757
NM_001110219.3(GJB6):c.*227dup rs368264636
NM_001110219.3(GJB6):c.111G>A (p.Val37=) rs543659673
NM_001111.5(ADAR):c.1897C>T (p.Arg633Cys)
NM_001111.5(ADAR):c.2361G>A (p.Ala787=)
NM_001111.5(ADAR):c.2496+35C>G rs7532276
NM_001111.5(ADAR):c.3019+19dup
NM_001124758.3(SPNS2):c.1443+43A>G rs11658114
NM_001127453.2(GSDME):c.1334T>A (p.Phe445Tyr) rs61731036
NM_001127453.2(GSDME):c.1348C>T (p.Arg450Cys) rs151328414
NM_001127453.2(GSDME):c.424C>A (p.Pro142Thr) rs754554
NM_001127649.3(PEX26):c.*1283C>T rs73876563
NM_001127649.3(PEX26):c.*1532_*1535dup rs361782
NM_001127649.3(PEX26):c.*1661_*1662insACTC rs361571
NM_001127649.3(PEX26):c.*1859A>C rs146739242
NM_001127649.3(PEX26):c.*829A>G rs362057
NM_001127649.3(PEX26):c.*944C>A rs78412274
NM_001127649.3(PEX26):c.372-12dup rs1489019658
NM_001127649.3(PEX26):c.814+22del
NM_001127671.2(LIFR):c.*3330C>A rs148827994
NM_001127671.2(LIFR):c.*3639_*3640del rs796517933
NM_001127671.2(LIFR):c.*5072dup rs34579169
NM_001127671.2(LIFR):c.143-37GT[11] rs10637374
NM_001127671.2(LIFR):c.143-37GT[12] rs10637374
NM_001127671.2(LIFR):c.143-37GT[13] rs10637374
NM_001127671.2(LIFR):c.143-37GT[15] rs10637374
NM_001127671.2(LIFR):c.143-37GT[16] rs10637374
NM_001127671.2(LIFR):c.3288C>T (p.Asn1096=) rs3729751
NM_001127671.2(LIFR):c.397+17_397+20del rs139143276
NM_001128178.3(NPHP1):c.144-11del
NM_001128178.3(NPHP1):c.144-11dup rs762119782
NM_001128178.3(NPHP1):c.1530-13dup
NM_001128178.3(NPHP1):c.729-11dup
NM_001128228.3(TPRN):c.1818GGA[8] (p.Glu621del) rs376810326
NM_001129.5(AEBP1):c.863-37dup rs58863562
NM_001130987.2(DYSF):c.1518C>T (p.Ile506=) rs34387018
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu) rs546679270
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3]) rs398123779
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=) rs79899601
NM_001130987.2(DYSF):c.4046G>T (p.Arg1349Leu) rs61742872
NM_001130987.2(DYSF):c.460+2T>G rs750356247
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu) rs34999029
NM_001134793.2(HYLS1):c.-26+27_-26+28dup rs11382127
NM_001134793.2(HYLS1):c.-66_-65dup rs60408033
NM_001134831.2(AHI1):c.*28G>C rs9494209
NM_001134831.2(AHI1):c.2037-77G>A rs737561
NM_001136035.4(TRMT1):c.1106+26G>C rs35601737
NM_001139.3(ALOX12B):c.147+59_147+60del rs112884117
NM_001143992.2(WRAP53):c.1565C>G (p.Ala522Gly) rs7640
NM_001145026.2(PTPRQ):c.1187-27dup rs56351124
NM_001145026.2(PTPRQ):c.1882+16TTG[7] rs58537253
NM_001145026.2(PTPRQ):c.6453+21C>T rs1163041
NM_001145809.2(MYH14):c.192G>T (p.Gly64=) rs181055215
NM_001145809.2(MYH14):c.33G>C (p.Arg11=) rs8106196
NM_001146262.4(SYT14):c.672AGA[1] (p.Glu225del) rs2307890
NM_001160372.4(TRAPPC9):c.731-31_731-11del rs11267571
NM_001161403.3(LIMS2):c.360-4G>A rs112254310
NM_001161403.3(LIMS2):c.441C>A (p.Ile147=) rs199563092
NM_001163809.2(WDR81):c.5556C>T (p.Thr1852=) rs1045794
NM_001166114.2(PNPLA6):c.2634+38G>C rs599328
NM_001166114.2(PNPLA6):c.3913+23del rs11307097
NM_001171.6(ABCC6):c.1338+20C>G rs12929920
NM_001171.6(ABCC6):c.1867+60A>G rs8056103
NM_001171.6(ABCC6):c.1868-57G>A rs41278182
NM_001171.6(ABCC6):c.1868-85del rs55685226
NM_001171.6(ABCC6):c.2666+134del rs11295432
NM_001171.6(ABCC6):c.3506+83A>C rs3213473
NM_001171.6(ABCC6):c.3735+55del rs56822940
NM_001173990.3(TMEM216):c.*6A>G rs541341560
NM_001173990.3(TMEM216):c.-24C>G rs59493015
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) rs541666319
NM_001173990.3(TMEM216):c.432-1G>C rs10897158
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro) rs569734777
NM_001173990.3:c.432-11_432-10insA
NM_001184.4(ATR):c.1885+65ATTT[8] rs56661838
NM_001184.4(ATR):c.3120G>A (p.Leu1040=) rs28910272
NM_001184.4(ATR):c.4153-10del rs112116713
NM_001184.4(ATR):c.5739-14_5739-9del rs72272981
NM_001195248.2(APTX):c.484-25_484-5del rs200922655
NM_001195248.2(APTX):c.771-12dup rs34600530
NM_001195263.2(PDZD7):c.2335CGCAGC[4] (p.773RS[7]) rs200896335
NM_001195263.2(PDZD7):c.928+20del rs77484072
NM_001199107.2(TBC1D24):c.1206+20CCAGGGCTGGCTCTGATGGGCT[2] rs777798547
NM_001267550.2(TTN):c.*99dup rs11424072
NM_001267550.2(TTN):c.100172-17dup rs397517782
NM_001267550.2(TTN):c.100766-10dup rs749872538
NM_001267550.2(TTN):c.100766-11_100766-10del rs749872538
NM_001267550.2(TTN):c.100766-20_100766-19insC
NM_001267550.2(TTN):c.103365C>T (p.Arg34455=) rs398124462
NM_001267550.2(TTN):c.105787_105788delinsTT (p.Ala35263Phe) rs794729250
NM_001267550.2(TTN):c.107681-18del rs148707308
NM_001267550.2(TTN):c.107681-18dup rs148707308
NM_001267550.2(TTN):c.11254+14dup
NM_001267550.2(TTN):c.11255-17_11255-16del rs72647895
NM_001267550.2(TTN):c.11312-11del rs1212087943
NM_001267550.2(TTN):c.11312-7dup
NM_001267550.2(TTN):c.12780G>A (p.Ala4260=) rs746578
NM_001267550.2(TTN):c.12780G>T (p.Ala4260=) rs746578
NM_001267550.2(TTN):c.13194A>G (p.Gln4398=) rs375347596
NM_001267550.2(TTN):c.14092+20del rs560021681
NM_001267550.2(TTN):c.14372-13del rs773125043
NM_001267550.2(TTN):c.14784C>A (p.Leu4928=) rs373875040
NM_001267550.2(TTN):c.15178G>A (p.Val5060Ile) rs72648929
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu) rs72648929
NM_001267550.2(TTN):c.1537-20dup
NM_001267550.2(TTN):c.15561G>T (p.Leu5187=) rs779159076
NM_001267550.2(TTN):c.16621+10G>A rs539530049
NM_001267550.2(TTN):c.16621+14dup rs756720486
NM_001267550.2(TTN):c.16904-8dup
NM_001267550.2(TTN):c.177C>T (p.Ser59=) rs191057824
NM_001267550.2(TTN):c.18054A>C (p.Pro6018=) rs575829011
NM_001267550.2(TTN):c.18075C>T (p.Pro6025=) rs557350005
NM_001267550.2(TTN):c.19715-8dup
NM_001267550.2(TTN):c.20142C>T (p.Tyr6714=) rs535793314
NM_001267550.2(TTN):c.20276-5dup
NM_001267550.2(TTN):c.21489C>G (p.Thr7163=) rs376882041
NM_001267550.2(TTN):c.2226C>A (p.Ser742=) rs151025677
NM_001267550.2(TTN):c.2264C>T (p.Ser755Leu) rs533384820
NM_001267550.2(TTN):c.23023G>T (p.Asp7675Tyr) rs552951988
NM_001267550.2(TTN):c.23099-8dup
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu) rs149523263
NM_001267550.2(TTN):c.23853C>A (p.Ala7951=) rs201766927
NM_001267550.2(TTN):c.25922-11del rs1479661386
NM_001267550.2(TTN):c.25922-11dup
NM_001267550.2(TTN):c.26762-39TTTGT[11] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[5] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[7] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[8] rs71393436
NM_001267550.2(TTN):c.26991A>C (p.Thr8997=) rs61232800
NM_001267550.2(TTN):c.27050-9del rs888604866
NM_001267550.2(TTN):c.28754-18dup
NM_001267550.2(TTN):c.29042-4del rs1345117628
NM_001267550.2(TTN):c.29042-4dup rs1345117628
NM_001267550.2(TTN):c.29938G>A (p.Ala9980Thr) rs189286381
NM_001267550.2(TTN):c.30512-10del
NM_001267550.2(TTN):c.30512-19_30512-18dup rs397517532
NM_001267550.2(TTN):c.30512-19dup rs397517532
NM_001267550.2(TTN):c.30538+19dup
NM_001267550.2(TTN):c.30683-17dup rs368277751
NM_001267550.2(TTN):c.30683-19del rs752002029
NM_001267550.2(TTN):c.30683-19dup
NM_001267550.2(TTN):c.30683-21_30683-19del rs752002029
NM_001267550.2(TTN):c.30683-3del rs368277751
NM_001267550.2(TTN):c.31514-10dup rs776720259
NM_001267550.2(TTN):c.3243G>A (p.Ala1081=) rs559501661
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.33172+15del rs559323758
NM_001267550.2(TTN):c.33172+15dup rs559323758
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup) rs368327166
NM_001267550.2(TTN):c.34129GTTCTACCTGAAGAAGAGGAA[1] (p.11363VLPEEEE[3]) rs587780487
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del) rs397517549
NM_001267550.2(TTN):c.34453+14G>A rs397517550
NM_001267550.2(TTN):c.34613-5del rs1295942965
NM_001267550.2(TTN):c.34708+8C>A rs762808097
NM_001267550.2(TTN):c.34787-19del rs749050618
NM_001267550.2(TTN):c.35630-4del rs2154262005
NM_001267550.2(TTN):c.35798-18del rs773942530
NM_001267550.2(TTN):c.35798-18dup rs773942530
NM_001267550.2(TTN):c.38708-4T>C rs200819643
NM_001267550.2(TTN):c.38929C>T (p.Pro12977Ser) rs150223722
NM_001267550.2(TTN):c.38955T>G (p.Val12985=) rs375699886
NM_001267550.2(TTN):c.39006G>T (p.Ser13002=) rs548745743
NM_001267550.2(TTN):c.39212-9C>A rs373056460
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg) rs72650066
NM_001267550.2(TTN):c.39731TTGCTCCTGAAGAGGAAA[1] (p.13244IAPEEE[1]) rs139512154
NM_001267550.2(TTN):c.40058-15del rs1333487419
NM_001267550.2(TTN):c.40634-17del rs760969357
NM_001267550.2(TTN):c.43138T>C (p.Cys14380Arg) rs557125278
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro) rs72647876
NM_001267550.2(TTN):c.43481-10_43481-9del rs730880350
NM_001267550.2(TTN):c.43481-16dup rs730880350
NM_001267550.2(TTN):c.44281+19dup rs770306737
NM_001267550.2(TTN):c.44425-13dup rs776119628
NM_001267550.2(TTN):c.44548+20del
NM_001267550.2(TTN):c.45053C>T (p.Ala15018Val) rs72677221
NM_001267550.2(TTN):c.45120T>G (p.Ile15040Met) rs74580375
NM_001267550.2(TTN):c.46142T>C (p.Val15381Ala) rs369269320
NM_001267550.2(TTN):c.4815-13del
NM_001267550.2(TTN):c.48161-4del rs730880371
NM_001267550.2(TTN):c.51437-13dup
NM_001267550.2(TTN):c.51991G>C (p.Glu17331Gln) rs547986881
NM_001267550.2(TTN):c.52406-12dup rs1553688916
NM_001267550.2(TTN):c.54382-12del rs2154194835
NM_001267550.2(TTN):c.54812-14dup rs770542364
NM_001267550.2(TTN):c.55302+3dup rs1419991735
NM_001267550.2(TTN):c.55732+13dup
NM_001267550.2(TTN):c.56051-12dup rs759957991
NM_001267550.2(TTN):c.56348-3del
NM_001267550.2(TTN):c.56648-6del rs2154191014
NM_001267550.2(TTN):c.56910C>T (p.Gly18970=) rs148299739
NM_001267550.2(TTN):c.57263-14dup rs2154190004
NM_001267550.2(TTN):c.57847+18_57847+19dup rs111496283
NM_001267550.2(TTN):c.57847+19del rs111496283
NM_001267550.2(TTN):c.57847+7dup rs111496283
NM_001267550.2(TTN):c.58433-16dup rs758370659
NM_001267550.2(TTN):c.58433-7del rs758370659
NM_001267550.2(TTN):c.5875T>A (p.Phe1959Ile) rs562856820
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001267550.2(TTN):c.60490G>C (p.Val20164Leu) rs72646843
NM_001267550.2(TTN):c.6303C>T (p.Val2101=) rs937168906
NM_001267550.2(TTN):c.64972+10del rs770999001
NM_001267550.2(TTN):c.6509-16del
NM_001267550.2(TTN):c.65275+20del rs747219831
NM_001267550.2(TTN):c.66576C>A (p.Leu22192=) rs187378247
NM_001267550.2(TTN):c.669+4dup rs1223834445
NM_001267550.2(TTN):c.67057+19dup
NM_001267550.2(TTN):c.68330-5del rs1553619103
NM_001267550.2(TTN):c.68825-9dup
NM_001267550.2(TTN):c.72033A>G (p.Pro24011=) rs72646894
NM_001267550.2(TTN):c.74190T>G (p.Gly24730=) rs201797603
NM_001267550.2(TTN):c.76739C>T (p.Thr25580Met) rs56372592
NM_001267550.2(TTN):c.76803G>A (p.Thr25601=) rs751627427
NM_001267550.2(TTN):c.82385C>A (p.Thr27462Lys) rs55933739
NM_001267550.2(TTN):c.85863T>C (p.Tyr28621=) rs113527853
NM_001267550.2(TTN):c.86683G>A (p.Val28895Met) rs201290358
NM_001267550.2(TTN):c.87837A>G (p.Arg29279=)
NM_001267550.2(TTN):c.8887A>C (p.Thr2963Pro) rs200875815
NM_001267550.2(TTN):c.8902+13del rs774238749
NM_001267550.2(TTN):c.8902+14_8902+16del
NM_001267550.2(TTN):c.8902+14_8902+16delinsA rs786200994
NM_001267550.2(TTN):c.8903-17dup
NM_001267550.2(TTN):c.89240C>G (p.Thr29747Ser) rs370568740
NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys) rs11887722
NM_001267550.2(TTN):c.91071T>G (p.Thr30357=) rs11897366
NM_001267550.2(TTN):c.91557T>C (p.Asp30519=) rs202185465
NM_001267550.2(TTN):c.9472-19del rs201990196
NM_001267550.2(TTN):c.9472-19dup rs201990196
NM_001267550.2(TTN):c.9472-20_9472-19dup rs201990196
NM_001267550.2(TTN):c.95417-10del rs2154145289
NM_001267550.2(TTN):c.96180T>C (p.Ile32060=) rs572401798
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_001267550.2(TTN):c.99810C>T (p.Val33270=) rs564536939
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu) rs397517781
NM_001278064.2(GRM1):c.3213T>G (p.Pro1071=) rs1047006
NM_001278293.3(ARL6):c.535+13del
NM_001283009.2(RTEL1):c.1349-10dup
NM_001283009.2(RTEL1):c.1637-50A>C rs2777941
NM_001283009.2(RTEL1):c.1879-4del
NM_001283009.2(RTEL1):c.2142-3del rs755965232
NM_001283009.2(RTEL1):c.2266-13dup rs546123796
NM_001283009.2(RTEL1):c.2310AGA[1] (p.Glu771del) rs558133631
NM_001283009.2(RTEL1):c.2557-89G>C rs2236507
NM_001283009.2(RTEL1):c.2670T>G (p.Gly890=)
NM_001283009.2(RTEL1):c.2784C>T (p.Phe928=) rs3848672
NM_001283009.2(RTEL1):c.2784_2785delinsTA (p.Ala929Thr) rs1601182623
NM_001283009.2(RTEL1):c.2852-12del
NM_001283009.2(RTEL1):c.2975C>T (p.Pro992Leu) rs143967591
NM_001283009.2(RTEL1):c.2993-8_2993-6del rs761735369
NM_001283009.2(RTEL1):c.3344-5del rs2145477238
NM_001283009.2(RTEL1):c.3412C>A (p.Arg1138=) rs6062495
NM_001283009.2(RTEL1):c.477+19G>A rs6010997
NM_001283009.2(RTEL1):c.615-149C>G rs7261546
NM_001287.6(CLCN7):c.1448-43dup rs61073146
NM_001287.6(CLCN7):c.676-86C>G rs8060503
NM_001329943.3(KIAA0586):c.100G>T (p.Val34Phe) rs186659284
NM_001329943.3(KIAA0586):c.1584-5del
NM_001329943.3(KIAA0586):c.199+23del rs537837939
NM_001329943.3(KIAA0586):c.2944+24dup rs768128741
NM_001329943.3(KIAA0586):c.2945-9del
NM_001329943.3(KIAA0586):c.3144+15del
NM_001329943.3(KIAA0586):c.3165_3166delinsAG (p.Pro1056Ala) rs386777947
NM_001329943.3(KIAA0586):c.3305-8dup rs5808973
NM_001329943.3(KIAA0586):c.3305-9_3305-8dup rs5808973
NM_001329943.3(KIAA0586):c.340+25dup rs770708728
NM_001329943.3(KIAA0586):c.340+6del
NM_001329943.3(KIAA0586):c.567C>T (p.Thr189=)
NM_001329943.3(KIAA0586):c.962-10dup rs1431902070
NM_001351132.2(PEX5):c.*1134dup rs11448434
NM_001351132.2(PEX5):c.*628G>A rs12316371
NM_001351132.2(PEX5):c.*628G>C rs12316371
NM_001351132.2(PEX5):c.-20C>G rs12227917
NM_001351132.2(PEX5):c.1394+14dup rs1186018434
NM_001351132.2(PEX5):c.1413G>C (p.Val471=) rs115760878
NM_001351132.2(PEX5):c.147+77_147+121del
NM_001351132.2(PEX5):c.148-15_148-12del rs774517551
NM_001351132.2(PEX5):c.1561-44_1561-43insTCTGAGTCGGTGGAGTAATGTGCAGAGTTTGA rs141721291
NM_001351132.2(PEX5):c.551+113_551+114dup rs5796268
NM_001351132.2(PEX5):c.754-8del
NM_001351132.2(PEX5):c.966+24dup rs1944415107
NM_001354587.1(ANKRD36):c.5731dup (p.Gln1911fs) rs752428198
NM_001366722.1(GRIP1):c.*1261del rs35499444
NM_001366722.1(GRIP1):c.418+14C>A rs79994510
NM_001366722.1(GRIP1):c.964G>A (p.Ala322Thr) rs17102531
NM_001367624.2(ZNF469):c.*551TCCTCCCTCTGACCACAGGGTCATGCC[3] rs6145934
NM_001367624.2(ZNF469):c.*618T>G rs3859020
NM_001367624.2(ZNF469):c.*870del rs35684712
NM_001367624.2(ZNF469):c.10325G>C (p.Arg3442Thr) rs199528724
NM_001367624.2(ZNF469):c.10599C>T (p.Pro3533=) rs78022634
NM_001367624.2(ZNF469):c.1069T>C (p.Ser357Pro) rs11648572
NM_001367624.2(ZNF469):c.11406C>A (p.His3802Gln) rs141042464
NM_001367624.2(ZNF469):c.2625_2645del (p.Pro876_Gly882del) rs113102840
NM_001367624.2(ZNF469):c.2666C>T (p.Ala889Val) rs145186655
NM_001367624.2(ZNF469):c.3341G>T (p.Arg1114Leu) rs568046708
NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala) rs532620482
NM_001367624.2(ZNF469):c.5862C>T (p.Pro1954=) rs201666199
NM_001367624.2(ZNF469):c.6414G>T (p.Ser2138=) rs548774131
NM_001367624.2(ZNF469):c.6552G>T (p.Thr2184=) rs12919507
NM_001367624.2(ZNF469):c.8543A>G (p.Asp2848Gly) rs1457868844
NM_001367624.2(ZNF469):c.9095_9109del (p.Leu3032_Thr3036del) rs281865162
NM_001371333.1(DIABLO):c.51-318dup rs5801478
NM_001376256.1(CRYM):c.864C>G (p.Thr288=) rs14122
NM_001378454.1(ALMS1):c.10213+12G>A rs527508238
NM_001378454.1(ALMS1):c.11117C>G (p.Ser3706Cys) rs533965968
NM_001378454.1(ALMS1):c.11481C>G (p.Ser3827Arg) rs549156484
NM_001378454.1(ALMS1):c.11548-11del
NM_001378454.1(ALMS1):c.11548-5del rs775257923
NM_001378454.1(ALMS1):c.1174C>T (p.Arg392Cys) rs3813227
NM_001378454.1(ALMS1):c.12115-8del rs748193431
NM_001378454.1(ALMS1):c.12115-8dup rs748193431
NM_001378454.1(ALMS1):c.12362+16_12362+17del rs563514664
NM_001378454.1(ALMS1):c.12362+16_12362+27delinsTGAGTTTGTG rs1064795877
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly) rs115444326
NM_001378454.1(ALMS1):c.2416G>C (p.Val806Leu) rs138921247
NM_001378454.1(ALMS1):c.2535C>T (p.Asp845=) rs77517267
NM_001378454.1(ALMS1):c.325-4dup
NM_001378454.1(ALMS1):c.36GGA[10] (p.Glu26_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[11] (p.Glu27_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[14] (p.Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.4238G>C (p.Gly1413Ala) rs886038612
NM_001378454.1(ALMS1):c.5620A>G (p.Lys1874Glu) rs886038614
NM_001378454.1(ALMS1):c.61del (p.Glu21fs) rs753006733
NM_001378454.1(ALMS1):c.6302C>T (p.Ser2101Leu) rs28730854
NM_001378454.1(ALMS1):c.8487T>C (p.Asn2829=) rs756959656
NM_001378454.1(ALMS1):c.91GCG[7] (p.Ala34_Ala35dup) rs746896173
NM_001378454.1(ALMS1):c.9540-7dup rs750386293
NM_001378454.1(ALMS1):c.9767C>G (p.Ser3256Cys) rs200922218
NM_001378454.1(ALMS1):c.9782-11dup rs1553414055
NM_001378609.3(OTOGL):c.3702G>A (p.Met1234Ile) rs1207446497
NM_001378609.3(OTOGL):c.5067T>C (p.Asp1689=) rs1888797330
NM_001378609.3(OTOGL):c.5957G>A (p.Arg1986Lys) rs1440977583
NM_001378615.1(CC2D2A):c.40-122A>C rs9993580
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del) rs386833764
NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=) rs116198081
NM_001378789.1(CERS3):c.*75C>A rs1023782
NM_001379180.1(ESRRB):c.*2574C>A rs8017684
NM_001379286.1(ZNF423):c.2535C>T (p.Thr845=) rs77996576
NM_001382391.1(CSPP1):c.-10-5del
NM_001382391.1(CSPP1):c.-10-5dup rs536000854
NM_001382391.1(CSPP1):c.1023-7dup rs781187284
NM_001382391.1(CSPP1):c.1288-12dup rs759923250
NM_001382391.1(CSPP1):c.1619-8del
NM_001382391.1(CSPP1):c.200-5del
NM_001382391.1(CSPP1):c.200-5dup rs775661180
NM_001382391.1(CSPP1):c.2128+25_2128+36del rs11296619
NM_001382391.1(CSPP1):c.2128+34_2128+36del rs11296619
NM_001382391.1(CSPP1):c.2128+35_2128+36del rs11296619
NM_001382391.1(CSPP1):c.2128+36del rs11296619
NM_001382391.1(CSPP1):c.2392-8_2392-4del rs528357182
NM_001382391.1(CSPP1):c.2539-4del rs754861164
NM_001382391.1(CSPP1):c.3330+17del
NM_001382391.1(CSPP1):c.385-16del
NM_001382391.1(CSPP1):c.385-9dup
NM_001384140.1(PCDH15):c.1195A>C (p.Ser399Arg) rs199786639
NM_001384140.1(PCDH15):c.1590+20A>G rs7093302
NM_001384140.1(PCDH15):c.1917+13GT[10] rs5785040
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu) rs45483395
NM_001384140.1(PCDH15):c.3502-14dup rs5785023
NM_001384474.1(LOXHD1):c.1894G>T (p.Gly632Cys) rs35088381
NM_001384474.1(LOXHD1):c.2816AGA[3] (p.Lys942del) rs142960762
NM_001384474.1(LOXHD1):c.4148C>T (p.Thr1383Met) rs7244681
NM_001384474.1(LOXHD1):c.4531-120G>A rs11660036
NM_001386140.1(MTTP):c.1715A>G (p.Asn572Ser) rs772602972
NM_001386140.1(MTTP):c.490A>G (p.Thr164Ala) rs563558722
NM_001394148.2(LOC128706665):c.-56_-47dup rs16996729
NM_001510.4(GRID2):c.735+21G>C rs2271385
NM_001543.5(NDST1):c.1846+23G>C rs2304063
NM_001543.5(NDST1):c.750A>G (p.Pro250=) rs2273234
NM_001614.5(ACTG1):c.-55G>A rs7503278
NM_001614.5(ACTG1):c.-6-83T>G rs8064532
NM_001614.5(ACTG1):c.124-6dup
NM_001614.5(ACTG1):c.124-8C>T rs201279208
NM_001614.5(ACTG1):c.15C>A (p.Ile5=) rs199657153
NM_001614.5(ACTG1):c.15C>T (p.Ile5=) rs199657153
NM_001614.5(ACTG1):c.315G>A (p.Leu105=) rs202094234
NM_001614.5(ACTG1):c.414C>T (p.Ala138=) rs143978597
NM_001614.5(ACTG1):c.558C>T (p.Thr186=) rs142893042
NM_001614.5(ACTG1):c.985-40del rs59886367
NM_001692.4(ATP6V1B1):c.274-72A>C rs967063
NM_001692.4(ATP6V1B1):c.586-140G>A rs2072458
NM_001814.6(CTSC):c.173-19dup rs11326739
NM_001814.6(CTSC):c.173-7del rs11326739
NM_001814.6(CTSC):c.173-8_173-7del
NM_001814.6(CTSC):c.318+9dup
NM_001814.6(CTSC):c.319-18del
NM_001814.6(CTSC):c.641+19dup
NM_001814.6(CTSC):c.757+9dup
NM_001814.6(CTSC):c.758-16T>A
NM_002109.6(HARS1):c.1445C>T (p.Thr482Met) rs147372931
NM_002109.6(HARS1):c.300+138G>A rs2530239
NM_002109.6(HARS1):c.721C>T (p.Leu241=)
NM_002109.6(HARS1):c.91-17del rs543418150
NM_002160.4(TNC):c.2049G>A (p.Glu683=) rs2274836
NM_002160.4(TNC):c.3375C>A (p.Ser1125Arg) rs61737056
NM_002160.4(TNC):c.5093G>A (p.Arg1698Gln) rs61734387
NM_002160.4(TNC):c.5093G>C (p.Arg1698Pro) rs61734387
NM_002160.4(TNC):c.6099C>T (p.Arg2033=) rs58547879
NM_002180.3(IGHMBP2):c.1212G>T (p.Leu404=)
NM_002180.3(IGHMBP2):c.1538-20C>T rs147148090
NM_002180.3(IGHMBP2):c.2295C>T (p.His765=) rs149185954
NM_002180.3(IGHMBP2):c.2532G>A (p.Ala844=) rs2228207
NM_002180.3(IGHMBP2):c.256+138A>G
NM_002180.3(IGHMBP2):c.2870A>G (p.Lys957Arg) rs572019890
NM_002180.3(IGHMBP2):c.726C>G (p.Ala242=) rs76690064
NM_002180.3(IGHMBP2):c.86+7G>C rs527948004
NM_002230.4(JUP):c.1498-6del rs1555599887
NM_002241.5(KCNJ10):c.*1764T>G rs2486253
NM_002292.4(LAMB2):c.1731+16del rs766983720
NM_002292.4(LAMB2):c.261G>A (p.Lys87=) rs149408554
NM_002292.4(LAMB2):c.3152C>T (p.Pro1051Leu)
NM_002292.4(LAMB2):c.3798-16del rs750912455
NM_002292.4(LAMB2):c.4224+19G>A rs114913744
NM_002292.4(LAMB2):c.5026_5027delinsAT (p.Gly1676Ile) rs1575526216
NM_002292.4(LAMB2):c.5061G>T (p.Thr1687=) rs150465100
NM_002454.3(MTRR):c.-26+755C>A rs326119
NM_002454.3(MTRR):c.1091_1093del (p.Cys364del) rs796052001
NM_002454.3(MTRR):c.1146+10del rs750264866
NM_002454.3(MTRR):c.1147-14G>A rs9282791
NM_002454.3(MTRR):c.1676+15dup
NM_002454.3(MTRR):c.1677-9del rs746262908
NM_002454.3(MTRR):c.1677-9dup rs746262908
NM_002454.3(MTRR):c.1875G>A (p.Val625=) rs12347
NM_002454.3(MTRR):c.283+9CT[3] rs1341998318
NM_002454.3(MTRR):c.904-20T>C
NM_002454.3(MTRR):c.904-20_904-19insTC rs1554003809
NM_002454.3(MTRR):c.904-20dup rs11398509
NM_002454.3(MTRR):c.997C>G (p.Leu333Val) rs10064631
NM_002470.4(MYH3):c.1960-8del rs3216884
NM_002470.4(MYH3):c.2682+30_2682+31del rs34274020
NM_002470.4(MYH3):c.3138A>C (p.Arg1046=) rs2285475
NM_002470.4(MYH3):c.5796+30C>T rs12940161
NM_002470.4(MYH3):c.643-43dup rs3214114
NM_002473.6(MYH9):c.5483+4C>G rs56327920
NM_002473.6(MYH9):c.5781G>T (p.Pro1927=) rs80050551
NM_002485.5(NBN):c.1124+91C>A rs1805818
NM_002485.5(NBN):c.1125-7del rs2129722492
NM_002485.5(NBN):c.1125-7dup rs2129722492
NM_002485.5(NBN):c.1398-10dup rs587780555
NM_002485.5(NBN):c.2071-13del rs2130756405
NM_002485.5(NBN):c.320+16del
NM_002485.5(NBN):c.38-11del rs752004731
NM_002485.5(NBN):c.38-11dup rs752004731
NM_002485.5(NBN):c.38-20del rs757737980
NM_002485.5(NBN):c.38-20dup rs757737980
NM_002485.5(NBN):c.703-20dup rs1811468528
NM_002485.5(NBN):c.703-3dup rs1811467593
NM_002485.5(NBN):c.758C>T (p.Thr253Ile) rs61754967
NM_002617.4(PEX10):c.*352G>A rs115735911
NM_002617.4(PEX10):c.777-12del
NM_002617.4(PEX10):c.913-17del
NM_002618.4(PEX13):c.1090G>T (p.Ala364Ser) rs550344775
NM_002618.4(PEX13):c.914-8dup rs36090948
NM_002693.3:c.2734+39_2734+40insAGGT rs2152061162
NM_002800.5(PSMB9):c.179G>A (p.Arg60His) rs17587
NM_002855.5(NECTIN1):c.1310AGG[9] (p.Glu444dup) rs137909701
NM_002857.4(PEX19):c.181-15A>G rs114403769
NM_002857.4(PEX19):c.30C>T (p.Val10=) rs144440223
NM_002857.4(PEX19):c.726C>T (p.Thr242=) rs564013133
NM_002894.3(RBBP8):c.428+37T>C rs2336916
NM_002894.3(RBBP8):c.605-48TCA[2] rs3052770
NM_002906.4(RDX):c.-64-6del rs61003001
NM_002913.5(RFC1):c.132+2923=
NM_003104.6(SORD):c.266-35C>T rs2854446
NM_003332.4(TYROBP):c.123C>G (p.Gly41=) rs111477177
NM_003383.5(VLDLR):c.-113C>G rs34433332
NM_003383.5(VLDLR):c.-42GGC[9] rs71329437
NM_003384.3(VRK1):c.1160-8del rs2139857568
NM_003384.3(VRK1):c.161-7dup rs1295596727
NM_003384.3(VRK1):c.374+7dup
NM_003384.3(VRK1):c.375-14A>G
NM_003384.3(VRK1):c.483+20_483+22del rs566207500
NM_003630.3(PEX3):c.-197T>C rs184934783
NM_003630.3(PEX3):c.206-14del rs397705490
NM_003754.3(EIF3F):c.*24C>T rs15879
NM_003839.4(TNFRSF11A):c.*1269G>C rs115023470
NM_003839.4(TNFRSF11A):c.*634C>G rs7232657
NM_003896.4(ST3GAL5):c.207-5del
NM_003896.4(ST3GAL5):c.662+17del
NM_003896.4(ST3GAL5):c.662+17dup rs370442067
NM_003896.4(ST3GAL5):c.662+18_662+19del rs369967911
NM_004004.6(GJB2):c.*1067G>T rs9237
NM_004004.6(GJB2):c.412A>G (p.Ser138Gly) rs397516876
NM_004100.5(EYA4):c.*2968T>A rs181492427
NM_004100.5(EYA4):c.-244C>G rs112173873
NM_004100.5(EYA4):c.-326C>G rs117602794
NM_004230.4(S1PR2):c.919A>C (p.Arg307=) rs2116942
NM_004260.4(RECQL4):c.212A>G (p.Glu71Gly) rs34642881
NM_004260.4(RECQL4):c.2296del (p.Arg766fs) rs1827625671
NM_004393.6(DAG1):c.384G>T (p.Val128=) rs143829263
NM_004407.4(DMP1):c.844C>A (p.Leu282Ile) rs141979823
NM_004415.4(DSP):c.12C>G (p.Asn4Lys) rs368802003
NM_004525.3(LRP2):c.*910dup rs11411235
NM_004525.3(LRP2):c.11498-13del rs143342962
NM_004525.3(LRP2):c.13519-40CT[12] rs138614485
NM_004525.3(LRP2):c.13519-40CT[13] rs138614485
NM_004525.3(LRP2):c.2934G>A (p.Thr978=) rs17848143
NM_004525.3(LRP2):c.3550+18T>G rs2075255
NM_004525.3(LRP2):c.3667+13T>A rs116697309
NM_004525.3(LRP2):c.402C>A (p.Pro134=) rs34104660
NM_004525.3(LRP2):c.428-11_428-8del rs370823033
NM_004525.3(LRP2):c.428-8del rs370823033
NM_004525.3(LRP2):c.428-9_428-8del rs370823033
NM_004525.3(LRP2):c.6267G>A (p.Pro2089=) rs2228169
NM_004525.3(LRP2):c.775G>C (p.Gly259Arg) rs34693334
NM_004525.3(LRP2):c.8699-8C>T rs145301652
NM_004565.3(PEX14):c.299-8G>T rs112851814
NM_004614.5(TK2):c.-30C>G rs3743715
NM_004618.5(TOP3A):c.1468-11G>T rs3817992
NM_004715.5(CTDP1):c.2418-207_2418-165dup rs147933855
NM_004813.4(PEX16):c.*376G>C rs143868125
NM_004813.4(PEX16):c.346= (p.Val116=)
NM_004813.4(PEX16):c.359+13del rs775047767
NM_004813.4(PEX16):c.888-3dup rs2134686844
NM_004813.4(PEX16):c.952+20_952+21del rs541010446
NM_004836.7(EIF2AK3):c.40CTG[7] (p.Leu21del) rs1805190
NM_004937.3(CTNS):c.*1128G>A rs115643745
NM_004937.3(CTNS):c.*1957del rs397856854
NM_004937.3(CTNS):c.681+22del
NM_004937.3(CTNS):c.682-3del
NM_004937.3(CTNS):c.682-3dup rs2150924916
NM_004937.3(CTNS):c.971-13dup
NM_004999.4(MYO6):c.*3296G>T rs7741414
NM_004999.4(MYO6):c.*4283A>G rs7746476
NM_004999.4(MYO6):c.1546+7_1546+8del rs3831003
NM_005199.5(CHRNG):c.921-68del rs10714586
NM_005219.5(DIAPH1):c.145-12dup rs1311979036
NM_005219.5(DIAPH1):c.1462-7dup rs1289998659
NM_005219.5(DIAPH1):c.1821TCC[10] (p.Pro620del) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[12] (p.Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[13] (p.Pro619_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[16] (p.Pro616_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[9] (p.Pro619_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.2483-10del
NM_005219.5(DIAPH1):c.3149-25_3149-15dup rs79558427
NM_005219.5(DIAPH1):c.3149-25dup rs79558427
NM_005219.5(DIAPH1):c.3149-3del rs79558427
NM_005219.5(DIAPH1):c.402+12del rs555848272
NM_005219.5(DIAPH1):c.685-8_685-6del rs773403319
NM_005236.3(ERCC4):c.1213+11dup
NM_005236.3(ERCC4):c.241G>T (p.Val81Phe) rs55761944
NM_005236.3(ERCC4):c.974-7_974-6inv
NM_005422.4(TECTA):c.5586+40C>G rs2186747
NM_005529.7(HSPG2):c.11187G>T (p.Val3729=) rs2229487
NM_005529.7(HSPG2):c.11685C>G (p.Pro3895=) rs62642501
NM_005529.7(HSPG2):c.12952C>A (p.Arg4318=) rs3736358
NM_005529.7(HSPG2):c.1818+15_1818+27del rs60267433
NM_005529.7(HSPG2):c.2471+21A>G rs2454293
NM_005529.7(HSPG2):c.444G>C (p.Leu148=) rs2254357
NM_005529.7(HSPG2):c.7446+34C>A rs6658388
NM_005529.7(HSPG2):c.744T>C (p.Leu248=) rs2229478
NM_005548.3(KARS1):c.223-6del rs370077957
NM_005548.3(KARS1):c.223-7_223-6del rs370077957
NM_005645.4(TAF13):c.-2G>A
NM_005708.5(GPC6):c.*1297C>G rs1951797
NM_005708.5(GPC6):c.*1297C>T rs1951797
NM_005807.6(PRG4):c.-30-30T>A rs1293987
NM_005876.5(SPEG):c.3564T>C (p.Pro1188=) rs10167209
NM_005883.3(APC2):c.4384A>C (p.Arg1462=) rs265273
NM_005982.4(SIX1):c.561-34_561-31del rs34899649
NM_006005.3(WFS1):c.1134C>A (p.Thr378=) rs71530904
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006005.3(WFS1):c.1725C>T (p.Ala575=) rs2230719
NM_006005.3(WFS1):c.1797C>A (p.Val599=) rs71524361
NM_006005.3(WFS1):c.2370G>A (p.Ser790=) rs150936382
NM_006005.3(WFS1):c.510C>G (p.Thr170=) rs151277039
NM_006012.4(CLPP):c.199-31dup rs57445020
NM_006019.4(TCIRG1):c.1887+175A>G rs2075609
NM_006019.4(TCIRG1):c.384C>T (p.His128=) rs3808973
NM_006208.3(ENPP1):c.*121G>C rs11964389
NM_006208.3(ENPP1):c.*1236G>T rs11154649
NM_006208.3(ENPP1):c.*1299C>T rs11965061
NM_006208.3(ENPP1):c.*772A>T rs34608785
NM_006208.3(ENPP1):c.2101-11del rs397832689
NM_006314.3(CNKSR1):c.851del (p.Pro284fs) rs781114848
NM_006331.8(EMG1):c.126dup (p.Leu43fs) rs60117710
NM_006397.3(RNASEH2A):c.549+10dup
NM_006397.3(RNASEH2A):c.550-9dup
NM_006432.5(NPC2):c.191-14dup rs748909227
NM_006618.5(KDM5B):c.2198+25dup rs3216061
NM_006618.5(KDM5B):c.3150C>G (p.Pro1050=) rs1141109
NM_006642.5(SDCCAG8):c.1094G>C (p.Arg365Thr) rs115098969
NM_006642.5(SDCCAG8):c.1357-13dup
NM_006642.5(SDCCAG8):c.2113-5del
NM_006642.5(SDCCAG8):c.307-8dup
NM_006721.4(ADK):c.727-8del rs112610475
NM_006736.6(DNAJB2):c.66-18T>C
NM_006765.4(TUSC3):c.309-15C>G
NM_006765.4(TUSC3):c.87C>T (p.Leu29=) rs78626330
NM_006796.3(AFG3L2):c.753-55T>C rs7407640
NM_006846.4(SPINK5):c.1093-10A>G rs2303062
NM_006846.4(SPINK5):c.1431-39del rs34473560
NM_006846.4(SPINK5):c.1557C>A (p.Gly519=) rs880687
NM_006846.4(SPINK5):c.1821-47T>G rs72660259
NM_006846.4(SPINK5):c.2088TGG[2] (p.Gly701del) rs111662216
NM_006846.4(SPINK5):c.2313+31C>G rs9325073
NM_006846.4(SPINK5):c.2442-3dup rs1561701516
NM_006846.4(SPINK5):c.2538+18C>T rs375794481
NM_006846.4(SPINK5):c.411-9del
NM_006846.4(SPINK5):c.794+22dup
NM_006846.4(SPINK5):c.795-5dup rs1042469969
NM_006892.4(DNMT3B):c.*1318del rs398088406
NM_006892.4(DNMT3B):c.1359G>A (p.Gly453=) rs35216603
NM_006892.4(DNMT3B):c.1760-5del
NM_006892.4(DNMT3B):c.1760-8C>G rs2424926
NM_006892.4(DNMT3B):c.1760-8C>T rs2424926
NM_006892.4(DNMT3B):c.1920C>T (p.Gly640=) rs532347792
NM_006892.4(DNMT3B):c.349C>T (p.His117Tyr) rs559899499
NM_006946.4(SPTBN2):c.1351-7G>T rs116078747
NM_006946.4(SPTBN2):c.309+36T>C rs12805133
NM_006996.3(SLC19A2):c.*1524C>T rs79478264
NM_007259.5(VPS45):c.1371+9A>T rs368568806
NM_007259.5(VPS45):c.1372-3del
NM_007259.5(VPS45):c.229-5dup rs781925027
NM_007259.5(VPS45):c.439-10dup
NM_007259.5(VPS45):c.439-2del rs782005099
NM_007259.5(VPS45):c.937-11del
NM_012188.5(FOXI1):c.*119C>A rs6873124
NM_012205.3(HAAO):c.124A>T (p.Thr42Ser) rs3816182
NM_012233.3(RAB3GAP1):c.*1208del rs200869351
NM_012233.3(RAB3GAP1):c.*261dup rs143703110
NM_012233.3(RAB3GAP1):c.2800C>G (p.Pro934Ala) rs77535003
NM_012414.4(RAB3GAP2):c.*2920CTT[1] rs3217443
NM_012414.4(RAB3GAP2):c.1126G>A (p.Val376Ile)
NM_012414.4(RAB3GAP2):c.2310+13dup
NM_012414.4(RAB3GAP2):c.2578-6dup
NM_012414.4(RAB3GAP2):c.304+12A>G rs530311696
NM_012414.4(RAB3GAP2):c.3262-4dup
NM_012414.4(RAB3GAP2):c.3999C>T (p.Pro1333=) rs539609673
NM_012414.4(RAB3GAP2):c.613-14del rs572027376
NM_012414.4(RAB3GAP2):c.613-24dup rs572027376
NM_012414.4(RAB3GAP2):c.812-6del rs35396665
NM_012414.4(RAB3GAP2):c.812-6dup rs35396665
NM_012414.4(RAB3GAP2):c.812-7_812-6del rs35396665
NM_012448.4(STAT5B):c.1257+11A>C
NM_012448.4(STAT5B):c.2078-9C>T
NM_012463.4(ATP6V0A2):c.*115C>T rs367543009
NM_012463.4(ATP6V0A2):c.*2353G>T rs74386589
NM_012463.4(ATP6V0A2):c.*3167G>A rs112529654
NM_012463.4(ATP6V0A2):c.732-23T>C rs2271660
NM_013382.7(POMT2):c.1117-7del
NM_013382.7(POMT2):c.1577-8dup
NM_013382.7(POMT2):c.2223A>G (p.Gly741=) rs554801559
NM_013382.7(POMT2):c.548-11A>G
NM_014053.4(FLVCR1):c.*1880TAAA[7] rs141272551
NM_014053.4(FLVCR1):c.*2061CA[12] rs139242973
NM_014053.4(FLVCR1):c.*3130_*3131insAATT rs10655434
NM_014053.4(FLVCR1):c.*3482C>G rs12142813
NM_014053.4(FLVCR1):c.1413+82TTG[6] rs41300975
NM_014053.4(FLVCR1):c.1594-13_1594-10dup rs41301015
NM_014264.5(PLK4):c.2490G>T (p.Glu830Asp) rs17012739
NM_014321.4(ORC6):c.360-13A>G rs797045853
NM_014363.6(SACS):c.8022T>C (p.Phe2674=) rs34928783
NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg) rs11839380
NM_014425.5(INVS):c.2069-18_2069-16del rs577372332
NM_014425.5(INVS):c.2582G>C (p.Arg861Thr) rs760537423
NM_014425.5(INVS):c.2719C>A (p.Arg907=) rs267607185
NM_014425.5(INVS):c.273+13del
NM_014425.5(INVS):c.2786+14del
NM_014425.5(INVS):c.3182dup (p.Asn1061fs) rs760013326
NM_014425.5(INVS):c.448-10G>A
NM_014780.5(CUL7):c.4295-14C>A rs144154816
NM_014797.3(ZBTB24):c.1121-15del
NM_014797.3(ZBTB24):c.1121-6dup
NM_014797.3(ZBTB24):c.1205-15dup
NM_014797.3(ZBTB24):c.1289-3del
NM_014797.3(ZBTB24):c.1289-3dup
NM_014797.3(ZBTB24):c.952+56ATA[2] rs76933246
NM_014797.3(ZBTB24):c.953-20T>A rs117893130
NM_014918.5(CHSY1):c.2202G>A (p.Thr734=)
NM_014918.5(CHSY1):c.2232C>T (p.His744=)
NM_014918.5(CHSY1):c.666G>A (p.Gly222=) rs74545602
NM_014918.5(CHSY1):c.817-11dup rs769105634
NM_014956.5(CEP164):c.2466T>C (p.Ser822=) rs563608251
NM_014956.5(CEP164):c.3216+20_3216+33del rs200103555
NM_014956.5(CEP164):c.347del (p.Lys116fs) rs751277203
NM_014956.5(CEP164):c.347dup (p.Glu117fs)
NM_014956.5(CEP164):c.3749-8del rs2047095365
NM_014956.5(CEP164):c.3931A>C (p.Thr1311Pro) rs756182128
NM_014956.5(CEP164):c.3937A>C (p.Thr1313Pro) rs758240656
NM_014956.5(CEP164):c.395C>G (p.Ala132Gly) rs61746874
NM_014956.5(CEP164):c.3999A>G (p.Gln1333=) rs201718007
NM_014956.5(CEP164):c.4096+19G>A
NM_014956.5(CEP164):c.688-7T>C rs539939395
NM_015046.7(SETX):c.*1148T>G rs138991890
NM_015046.7(SETX):c.*1368G>A rs7025
NM_015046.7(SETX):c.*1370G>C rs116822064
NM_015046.7(SETX):c.*431_*432del rs112251805
NM_015046.7(SETX):c.1173T>C (p.Ser391=)
NM_015046.7(SETX):c.1419A>T (p.Lys473Asn)
NM_015046.7(SETX):c.1535C>G (p.Ser512Cys)
NM_015046.7(SETX):c.1549A>G (p.Met517Val)
NM_015046.7(SETX):c.1576A>G (p.Met526Val) rs762013471
NM_015046.7(SETX):c.1583C>T (p.Ser528Phe)
NM_015046.7(SETX):c.1667A>G (p.Lys556Arg)
NM_015046.7(SETX):c.1771A>G (p.Ile591Val)
NM_015046.7(SETX):c.1783A>G (p.Ile595Val)
NM_015046.7(SETX):c.1890G>A (p.Thr630=)
NM_015046.7(SETX):c.1919C>G (p.Ala640Gly)
NM_015046.7(SETX):c.1932A>G (p.Thr644=)
NM_015046.7(SETX):c.1948A>G (p.Met650Val)
NM_015046.7(SETX):c.1966G>A (p.Val656Ile)
NM_015046.7(SETX):c.1988C>T (p.Thr663Ile)
NM_015046.7(SETX):c.1996G>C (p.Gly666Arg)
NM_015046.7(SETX):c.2177G>A (p.Cys726Tyr)
NM_015046.7(SETX):c.2267A>T (p.Glu756Val) rs202036078
NM_015046.7(SETX):c.2284A>T (p.Asn762Tyr)
NM_015046.7(SETX):c.2364T>G (p.Cys788Trp)
NM_015046.7(SETX):c.2415C>T (p.Val805=)
NM_015046.7(SETX):c.2416G>A (p.Asp806Asn)
NM_015046.7(SETX):c.241A>G (p.Ile81Val)
NM_015046.7(SETX):c.2471A>G (p.Tyr824Cys) rs544815791
NM_015046.7(SETX):c.2520T>C (p.Asn840=)
NM_015046.7(SETX):c.2536A>G (p.Ser846Gly)
NM_015046.7(SETX):c.2582A>G (p.Asn861Ser)
NM_015046.7(SETX):c.2591C>T (p.Pro864Leu)
NM_015046.7(SETX):c.2648A>G (p.Asn883Ser)
NM_015046.7(SETX):c.2830C>G (p.Pro944Ala)
NM_015046.7(SETX):c.2907T>A (p.Ala969=)
NM_015046.7(SETX):c.2988A>G (p.Arg996=) rs1358681495
NM_015046.7(SETX):c.3026C>T (p.Ser1009Phe)
NM_015046.7(SETX):c.3053A>G (p.Asp1018Gly) rs768510428
NM_015046.7(SETX):c.3057TGA[7] (p.Asp1024dup) rs572772837
NM_015046.7(SETX):c.3064G>A (p.Asp1022Asn)
NM_015046.7(SETX):c.3098T>C (p.Leu1033Pro)
NM_015046.7(SETX):c.3161A>C (p.Asn1054Thr)
NM_015046.7(SETX):c.3181C>G (p.Pro1061Ala)
NM_015046.7(SETX):c.3187A>G (p.Lys1063Glu)
NM_015046.7(SETX):c.3281A>G (p.Gln1094Arg)
NM_015046.7(SETX):c.3299A>G (p.Asn1100Ser) rs545072717
NM_015046.7(SETX):c.3424A>G (p.Thr1142Ala)
NM_015046.7(SETX):c.3429A>T (p.Arg1143Ser)
NM_015046.7(SETX):c.3491G>A (p.Arg1164Gln)
NM_015046.7(SETX):c.3517C>G (p.Pro1173Ala) rs141996565
NM_015046.7(SETX):c.3589G>A (p.Asp1197Asn) rs149558692
NM_015046.7(SETX):c.3589G>T (p.Asp1197Tyr)
NM_015046.7(SETX):c.3632G>A (p.Arg1211His)
NM_015046.7(SETX):c.3651G>T (p.Thr1217=) rs111419285
NM_015046.7(SETX):c.3706G>A (p.Val1236Ile)
NM_015046.7(SETX):c.3761A>C (p.Asn1254Thr)
NM_015046.7(SETX):c.389-9del rs534931548
NM_015046.7(SETX):c.3991C>T (p.Pro1331Ser)
NM_015046.7(SETX):c.4093C>T (p.Leu1365Phe)
NM_015046.7(SETX):c.4103G>T (p.Cys1368Phe) rs1445388214
NM_015046.7(SETX):c.4222A>G (p.Ser1408Gly)
NM_015046.7(SETX):c.4374C>T (p.Val1458=)
NM_015046.7(SETX):c.43A>G (p.Ile15Val) rs151040199
NM_015046.7(SETX):c.43A>T (p.Ile15Phe)
NM_015046.7(SETX):c.4445A>G (p.Glu1482Gly)
NM_015046.7(SETX):c.4476G>C (p.Glu1492Asp)
NM_015046.7(SETX):c.4481A>G (p.Asp1494Gly)
NM_015046.7(SETX):c.4582A>G (p.Thr1528Ala)
NM_015046.7(SETX):c.4600G>A (p.Asp1534Asn) rs746807833
NM_015046.7(SETX):c.4613G>A (p.Arg1538Gln)
NM_015046.7(SETX):c.4641A>G (p.Thr1547=)
NM_015046.7(SETX):c.4675A>G (p.Lys1559Glu) rs776238150
NM_015046.7(SETX):c.4848T>A (p.Thr1616=)
NM_015046.7(SETX):c.4899G>A (p.Ser1633=)
NM_015046.7(SETX):c.4916A>G (p.Gln1639Arg) rs150918808
NM_015046.7(SETX):c.4919C>T (p.Pro1640Leu)
NM_015046.7(SETX):c.4924C>A (p.Pro1642Thr) rs375942182
NM_015046.7(SETX):c.4927C>T (p.Leu1643Phe)
NM_015046.7(SETX):c.4991C>T (p.Pro1664Leu)
NM_015046.7(SETX):c.4992G>A (p.Pro1664=)
NM_015046.7(SETX):c.5003A>G (p.Asn1668Ser)
NM_015046.7(SETX):c.5011G>A (p.Gly1671Ser)
NM_015046.7(SETX):c.5059C>G (p.Pro1687Ala)
NM_015046.7(SETX):c.5099C>T (p.Thr1700Ile)
NM_015046.7(SETX):c.5275-14del rs761232500
NM_015046.7(SETX):c.5333G>A (p.Arg1778Gln)
NM_015046.7(SETX):c.5375-18CTT[2] rs201317659
NM_015046.7(SETX):c.5398G>A (p.Ala1800Thr)
NM_015046.7(SETX):c.5427T>G (p.Asp1809Glu)
NM_015046.7(SETX):c.5443C>G (p.Pro1815Ala)
NM_015046.7(SETX):c.5609A>G (p.Asn1870Ser)
NM_015046.7(SETX):c.5696G>C (p.Arg1899Pro)
NM_015046.7(SETX):c.5754T>C (p.Asp1918=)
NM_015046.7(SETX):c.5936G>C (p.Arg1979Pro) rs761031238
NM_015046.7(SETX):c.6136C>T (p.Leu2046=)
NM_015046.7(SETX):c.6209-19dup
NM_015046.7(SETX):c.6236C>T (p.Ala2079Val)
NM_015046.7(SETX):c.6325-5dup
NM_015046.7(SETX):c.6578C>G (p.Thr2193Ser)
NM_015046.7(SETX):c.6676G>A (p.Asp2226Asn)
NM_015046.7(SETX):c.667C>G (p.Leu223Val) rs774068411
NM_015046.7(SETX):c.682A>G (p.Met228Val)
NM_015046.7(SETX):c.6842+11dup
NM_015046.7(SETX):c.6843-16dup rs34769225
NM_015046.7(SETX):c.6843-5del rs34769225
NM_015046.7(SETX):c.6843-6_6843-5dup rs34769225
NM_015046.7(SETX):c.6879A>G (p.Pro2293=)
NM_015046.7(SETX):c.7090G>A (p.Asp2364Asn)
NM_015046.7(SETX):c.7179T>C (p.Asn2393=)
NM_015046.7(SETX):c.7200-10dup rs531485265
NM_015046.7(SETX):c.7200-11_7200-10del rs531485265
NM_015046.7(SETX):c.7203C>T (p.Phe2401=)
NM_015046.7(SETX):c.7204C>G (p.Leu2402Val) rs1402767850
NM_015046.7(SETX):c.7222T>C (p.Leu2408=)
NM_015046.7(SETX):c.7366A>G (p.Arg2456Gly)
NM_015046.7(SETX):c.7508C>G (p.Ser2503Cys)
NM_015046.7(SETX):c.7516G>A (p.Ala2506Thr) rs1160553456
NM_015046.7(SETX):c.7528C>T (p.His2510Tyr)
NM_015046.7(SETX):c.7532C>T (p.Thr2511Ile)
NM_015046.7(SETX):c.7552A>G (p.Ile2518Val)
NM_015046.7(SETX):c.7660T>C (p.Phe2554Leu) rs368269464
NM_015046.7(SETX):c.7716G>A (p.Thr2572=)
NM_015046.7(SETX):c.7735G>A (p.Val2579Ile) rs144121978
NM_015046.7(SETX):c.7735G>T (p.Val2579Phe) rs144121978
NM_015046.7(SETX):c.7786G>T (p.Ala2596Ser)
NM_015046.7(SETX):c.7810G>A (p.Val2604Met) rs757554863
NM_015046.7(SETX):c.7810G>T (p.Val2604Leu)
NM_015046.7(SETX):c.7813C>T (p.Arg2605Trp)
NM_015046.7(SETX):c.7840G>A (p.Glu2614Lys)
NM_015046.7(SETX):c.7944C>T (p.Ser2648=)
NM_015046.7(SETX):c.896G>A (p.Arg299His)
NM_015046.7(SETX):c.92A>G (p.Gln31Arg)
NM_015102.5(NPHP4):c.136-4del rs143323188
NM_015102.5(NPHP4):c.1503+17dup rs756154468
NM_015102.5(NPHP4):c.3144C>G (p.Ala1048=) rs540738356
NM_015102.5(NPHP4):c.3997-12del rs1325812736
NM_015102.5(NPHP4):c.4140+11dup rs779059295
NM_015114.3(ANKLE2):c.1700+104G>C rs10781636
NM_015114.3(ANKLE2):c.1891+84G>A rs7969633
NM_015120.4(ALMS1):c.1577_1579dup (p.Pro526_Leu527insPro) rs34628045
NM_015261.3(NCAPD3):c.1215+28G>A rs896409
NM_015278.5(SASH1):c.45CGAGCC[3] (p.12EP[7]) rs76317765
NM_015294.6(TRIM37):c.398C>T (p.Ala133Val) rs61758100
NM_015311.3(OBSL1):c.-208G>C rs567328066
NM_015311.3(OBSL1):c.-43del rs747020402
NM_015311.3(OBSL1):c.2408-32T>A rs2303543
NM_015311.3(OBSL1):c.2730C>A (p.Ala910=) rs10804275
NM_015311.3(OBSL1):c.4067-11G>T rs1983211
NM_015311.3(OBSL1):c.5684-37TC[2] rs146790993
NM_015404.4(WHRN):c.-314C>T rs57258861
NM_015474.4(SAMHD1):c.1609-2del
NM_015474.4(SAMHD1):c.510-18del rs772577201
NM_015474.4(SAMHD1):c.626-64_626-63del rs529639777
NM_015602.4(TOR1AIP1):c.476-3dup
NM_015602.4(TOR1AIP1):c.611-8dup rs771143442
NM_015602.4(TOR1AIP1):c.830C>G (p.Ser277Ter) rs2148480016
NM_015602.4(TOR1AIP1):c.964+1G>A rs2274955
NM_015702.3(MMADHC):c.155-11dup rs1573878813
NM_015702.3(MMADHC):c.155-16del
NM_015702.3(MMADHC):c.735T>G (p.Thr245=) rs530553915
NM_015702.3(MMADHC):c.846T>C (p.Asn282=) rs559044965
NM_015910.7(WDPCP):c.*624_*625del rs139878372
NM_015910.7(WDPCP):c.1749-12del
NM_015910.7(WDPCP):c.385-3del rs559429215
NM_015910.7(WDPCP):c.76-15_76-5del rs780314107
NM_015910.7(WDPCP):c.924A>G (p.Val308=) rs201844706
NM_015981.4(CAMK2A):c.1467-87A>T rs17712679
NM_016042.4(EXOSC3):c.*118G>T rs1059059
NM_016042.4(EXOSC3):c.810C>T (p.Ser270=)
NM_016042.4(EXOSC3):c.814T>C (p.Leu272=)
NM_016058.5(TPRKB):c.474T>C (p.Ile158=) rs7210
NM_016122.3(CEP83):c.174-5dup rs753511833
NM_016219.5(MAN1B1):c.1255-13del
NM_016219.5(MAN1B1):c.1567-18G>A
NM_016219.5(MAN1B1):c.31G>A (p.Ala11Thr)
NM_016219.5(MAN1B1):c.620+10G>A
NM_016239.4(MYO15A):c.3658G>A (p.Gly1220Arg) rs146754758
NM_016239.4(MYO15A):c.5133+26A>C rs2075658
NM_016239.4(MYO15A):c.8088+5C>G rs9916193
NM_016356.5(DCDC2):c.294-21GTTT[2] rs374485384
NM_016356.5(DCDC2):c.349-16dup rs746353912
NM_016373.4(WWOX):c.1057-14T>C rs66481974
NM_016373.4(WWOX):c.107+9del rs2151651994
NM_016373.4(WWOX):c.108-13dup rs146697931
NM_016373.4(WWOX):c.108-14_108-13dup rs146697931
NM_016373.4(WWOX):c.108-6dup rs754221329
NM_016373.4(WWOX):c.1239C>T (p.Ser413=) rs199576434
NM_016373.4(WWOX):c.409+16A>C rs12934985
NM_016373.4(WWOX):c.525C>G (p.Ala175=)
NM_016373.4(WWOX):c.535G>A (p.Ala179Thr) rs11545029
NM_016373.4(WWOX):c.535G>C (p.Ala179Pro) rs11545029
NM_016373.4(WWOX):c.535G>T (p.Ala179Ser) rs11545029
NM_016373.4(WWOX):c.544C>G (p.Leu182Val)
NM_016373.4(WWOX):c.618G>A (p.Val206=) rs376279847
NM_016373.4(WWOX):c.747C>G (p.Arg249=) rs375934868
NM_016373.4(WWOX):c.876T>C (p.Ala292=) rs74030232
NM_016373.4(WWOX):c.876T>G (p.Ala292=) rs74030232
NM_016464.5(TMEM138):c.129-11dup
NM_016938.5(EFEMP2):c.1171-17del
NM_016938.5(EFEMP2):c.367+10del
NM_016938.5(EFEMP2):c.975-32C>T rs594689
NM_017739.4(POMGNT1):c.1026+19del rs762531635
NM_017739.4(POMGNT1):c.1026+19dup
NM_017739.4(POMGNT1):c.535-3del
NM_017755.6(NSUN2):c.2279C>A (p.Pro760Gln) rs61744358
NM_017791.3(FLVCR2):c.543G>A (p.Val181=) rs2287016
NM_017807.4(OSGEP):c.294A>G (p.Gln98=) rs2275007
NM_017875.4(SLC25A38):c.*212T>G rs72867427
NM_018136.5(ASPM):c.3742-3dup rs587783236
NM_018136.5(ASPM):c.7674C>A (p.Ile2558=) rs41308365
NM_018136.5(ASPM):c.7674C>T (p.Ile2558=) rs41308365
NM_018136.5(ASPM):c.9395T>G (p.Leu3132Arg) rs36004306
NM_018161.5(NADSYN1):c.612A>C (p.Gln204His) rs7950441
NM_018319.3(TDP1):c.-276_-274dupCCG rs35210768
NM_018319.4(TDP1):c.*608del rs397897279
NM_018389.5(SLC35C1):c.*1636G>A rs79173599
NM_018451.5(CENPJ):c.*302del rs138938177
NM_018451.5(CENPJ):c.*305AAG[1] rs796638364
NM_018451.5(CENPJ):c.2992-18_2992-16del rs375905817
NM_018451.5(CENPJ):c.3704-14_3704-12del rs34991318
NM_018451.5(CENPJ):c.61A>G (p.Met21Val) rs35498994
NM_018451.5(CENPJ):c.61A>T (p.Met21Leu) rs35498994
NM_018699.4(PRDM5):c.1031-6dup rs35363618
NM_018718.3(CEP41):c.278-15A>T rs142452124
NM_018718.3(CEP41):c.575-14del rs144531086
NM_018718.3(CEP41):c.758-14dup rs1156468685
NM_018972.4(GDAP1):c.102= (p.Ser34=)
NM_020066.5(FMN2):c.162CGG[4] (p.Gly59del) rs71929261
NM_020066.5(FMN2):c.162del (p.Gly55fs) rs1572736047
NM_020247.4(COQ8A):c.*807_*808insT rs3215920
NM_020247.5(COQ8A):c.*389dup rs11420839
NM_020247.5(COQ8A):c.1256+32del rs3215919
NM_020247.5(COQ8A):c.1257-56G>T rs1574185
NM_020247.5(COQ8A):c.1440C>T (p.Phe480=) rs12593
NM_020247.5(COQ8A):c.940-52C>G rs2297413
NM_020401.4(NUP107):c.72G>A (p.Arg24=) rs2259588
NM_020458.4(TTC7A):c.1026C>T (p.Ile342=) rs151317740
NM_020458.4(TTC7A):c.1641+12G>C rs11885389
NM_020458.4(TTC7A):c.1919+11G>C rs149412946
NM_020458.4(TTC7A):c.2018-19G>T rs143365344
NM_020458.4(TTC7A):c.437G>A (p.Arg146Gln) rs61746139
NM_020458.4(TTC7A):c.437G>T (p.Arg146Leu) rs61746139
NM_020458.4(TTC7A):c.563G>T (p.Arg188Leu) rs147471840
NM_020458.4(TTC7A):c.94C>G (p.Leu32Val) rs144050892
NM_020631.5(PLEKHG5):c.*1158G>C rs2986754
NM_020631.5(PLEKHG5):c.*697C>T rs3176900
NM_020631.6(PLEKHG5):c.1393-22dup rs111312565
NM_020631.6(PLEKHG5):c.1393-8dup
NM_020631.6(PLEKHG5):c.1801-15del rs750991690
NM_020631.6(PLEKHG5):c.1801-15dup
NM_020631.6(PLEKHG5):c.210+14dup
NM_020631.6(PLEKHG5):c.2145GGA[6] (p.Glu722_Glu723del) rs113541584
NM_020631.6(PLEKHG5):c.2145GGA[7] (p.Glu723del) rs113541584
NM_020631.6(PLEKHG5):c.2160_2161del (p.Glu721fs)
NM_020631.6(PLEKHG5):c.2164del (p.Glu722fs) rs201182604
NM_020631.6(PLEKHG5):c.2319C>T (p.Pro773=) rs80031446
NM_020631.6(PLEKHG5):c.2458G>A (p.Gly820Ser) rs202191898
NM_020631.6(PLEKHG5):c.302+10_302+11delinsTT rs1553175406
NM_020631.6(PLEKHG5):c.302+16del
NM_020631.6(PLEKHG5):c.43+14_43+20del rs527883968
NM_020631.6(PLEKHG5):c.591+15del
NM_020661.4(AICDA):c.*38T>C rs115089086
NM_020661.4(AICDA):c.428-17_428-16dup rs5796316
NM_020661.4(AICDA):c.428-17dup rs5796316
NM_020751.3(COG6):c.1693-4del rs66629036
NM_020751.3(COG6):c.28G>A (p.Ala10Thr) rs3812882
NM_020751.3(COG6):c.624-3dup rs397756552
NM_020751.3(COG6):c.855C>T (p.Leu285=) rs544831978
NM_020779.4(WDR35):c.*978A>G rs149444449
NM_020779.4(WDR35):c.1058G>C (p.Arg353Pro) rs76623454
NM_020779.4(WDR35):c.1846-11dup rs754138477
NM_020779.4(WDR35):c.24+17dup
NM_020779.4(WDR35):c.2622A>T (p.Pro874=)
NM_020964.3(EPG5):c.1498-17del rs2050838482
NM_020964.3(EPG5):c.1944-16C>T rs575676819
NM_020964.3(EPG5):c.2245C>G (p.Gln749Glu)
NM_020964.3(EPG5):c.2413-15del rs1197236398
NM_020964.3(EPG5):c.2413-7del
NM_020964.3(EPG5):c.2413-7dup
NM_020964.3(EPG5):c.33C>G (p.Ala11=) rs539082493
NM_020964.3(EPG5):c.3551G>A (p.Cys1184Tyr)
NM_020964.3(EPG5):c.3817-5del
NM_020964.3(EPG5):c.3984-9dup rs1448453433
NM_020964.3(EPG5):c.4646+20C>T rs191567436
NM_020964.3(EPG5):c.5544C>T (p.Pro1848=) rs578073131
NM_020964.3(EPG5):c.5584G>A (p.Ala1862Thr) rs34977955
NM_020964.3(EPG5):c.6226-8dup
NM_020964.3(EPG5):c.63+14C>A rs757703100
NM_020964.3(EPG5):c.63+15del rs11301517
NM_020964.3(EPG5):c.6622-23dup rs11333207
NM_020964.3(EPG5):c.6622-7del rs11333207
NM_020964.3(EPG5):c.6622-9_6622-7del rs11333207
NM_021116.4(ADCY1):c.2571+37T>G rs2247685
NM_021252.5(RAB18):c.260-43_260-42del rs72201756
NM_021628.3(ALOXE3):c.*391C>A rs80115129
NM_021628.3(ALOXE3):c.1305+15del rs58194728
NM_021942.6(TRAPPC11):c.1503G>A (p.Lys501=) rs530411873
NM_021942.6(TRAPPC11):c.1894-17del
NM_021942.6(TRAPPC11):c.2628+10dup rs150593522
NM_021942.6(TRAPPC11):c.2851+42GC[2] rs147708886
NM_021942.6(TRAPPC11):c.661-13del rs751852398
NM_021942.6(TRAPPC11):c.661-3del rs140871779
NM_021971.4(GMPPB):c.211-15dup rs368719215
NM_022089.4(ATP13A2):c.1845+15del
NM_022089.4(ATP13A2):c.1947C>G (p.Pro649=) rs369722835
NM_022089.4(ATP13A2):c.2151C>T (p.Ser717=) rs544545629
NM_022089.4(ATP13A2):c.2251+20C>T
NM_022095.4(ZNF335):c.3670-16dup rs201440041
NM_022095.4(ZNF335):c.3820-7_3820-6del rs150750750
NM_022095.4(ZNF335):c.815-3del rs551678383
NM_022098.4(XPNPEP3):c.*2881C>G rs9623283
NM_022098.4(XPNPEP3):c.1055+15G>A rs5995965
NM_022098.4(XPNPEP3):c.761G>T (p.Arg254Leu)
NM_022098.4(XPNPEP3):c.970-8T>C rs547747361
NM_022124.6(CDH23):c.10036G>C (p.Glu3346Gln) rs562525508
NM_022124.6(CDH23):c.3430+114T>C rs7893748
NM_022124.6(CDH23):c.5187+44C>G rs10740390
NM_022124.6(CDH23):c.5187+73C>T rs10823843
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660
NM_022124.6(CDH23):c.8121G>T (p.Pro2707=) rs377535432
NM_022124.6(CDH23):c.9510+19_9510+25del rs149704197
NM_022168.4(IFIH1):c.1096-4del rs1453617092
NM_022168.4(IFIH1):c.1491G>C (p.Thr497=) rs12479043
NM_022168.4(IFIH1):c.1524+18G>A
NM_022168.4(IFIH1):c.1589del (p.Asn530fs) rs779192156
NM_022168.4(IFIH1):c.1642-3del
NM_022168.4(IFIH1):c.1764dup (p.Ala589fs) rs553669430
NM_022168.4(IFIH1):c.1766-6del rs548261817
NM_022168.4(IFIH1):c.2035_2036del (p.Leu679fs) rs774076578
NM_022168.4(IFIH1):c.653C>T (p.Pro218Leu) rs539777490
NM_022168.4(IFIH1):c.770-10del
NM_022168.4(IFIH1):c.875-11A>C rs186664431
NM_022168.4(IFIH1):c.936A>G (p.Gln312=)
NM_022336.4(EDAR):c.*2141T>C rs566201941
NM_022336.4(EDAR):c.1024+16del rs3833574
NM_022336.4(EDAR):c.1024+16dup
NM_022336.4(EDAR):c.1105G>C (p.Ala369Pro)
NM_022336.4(EDAR):c.357-18C>G
NM_022336.4(EDAR):c.822C>A (p.Ser274=) rs79648056
NM_022464.5(SIL1):c.-11+21922C>T
NM_022464.5(SIL1):c.152_153inv (p.Thr51Met)
NM_022464.5(SIL1):c.353+19G>A
NM_022464.5(SIL1):c.615G>A (p.Ala205=)
NM_022772.4(EPS8L2):c.165+72G>A rs7395822
NM_024022.2(TMPRSS3):c.617-3_617-2dup rs34966432
NM_024570.4(RNASEH2B):c.322-4del
NM_024570.4(RNASEH2B):c.322-4dup rs770781962
NM_024570.4(RNASEH2B):c.437-9del rs772054107
NM_024570.4(RNASEH2B):c.437-9dup rs772054107
NM_024570.4(RNASEH2B):c.925del (p.Ile309fs) rs75254367
NM_024570.4(RNASEH2B):c.925dup (p.Ile309fs) rs75254367
NM_024580.6(EFL1):c.1434G>C (p.Glu478Asp) rs2292189
NM_024649.5(BBS1):c.125-14C>T
NM_024649.5(BBS1):c.591+10_591+11dup rs770545908
NM_024649.5(BBS1):c.591+11del
NM_024649.5(BBS1):c.951+11dup
NM_024685.4(BBS10):c.1074G>A (p.Ser358=) rs551803123
NM_024685.4(BBS10):c.198-12dup rs764036894
NM_024685.4(BBS10):c.198-7del
NM_024753.5(TTC21B):c.114C>G (p.Val38=) rs34486024
NM_024753.5(TTC21B):c.1900-17del rs1312196560
NM_024753.5(TTC21B):c.21+2TGAGCGGG[5] rs59477041
NM_024753.5(TTC21B):c.21+33_21+34insGCGGGTGAGCGG rs569432248
NM_024753.5(TTC21B):c.2569-10dup rs144600502
NM_024753.5(TTC21B):c.3519T>C (p.Thr1173=) rs115504901
NM_024753.5(TTC21B):c.3519T>G (p.Thr1173=) rs115504901
NM_024753.5(TTC21B):c.430-5del
NM_024753.5(TTC21B):c.553-13del rs749999474
NM_024753.5(TTC21B):c.711-8del
NM_024753.5(TTC21B):c.863T>C (p.Phe288Ser)
NM_024753.5(TTC21B):c.895-9del
NM_024753.5(TTC21B):c.895-9dup rs752610067
NM_024824.5(ZC3H14):c.1354+15A>G rs2297124
NM_024824.5(ZC3H14):c.2204+17_2204+41del rs571303442
NM_024989.4(PGAP1):c.1273-17dup rs3835877
NM_024989.4(PGAP1):c.1273-8del rs3835877
NM_024989.4(PGAP1):c.1553-15dup
NM_024989.4(PGAP1):c.2338-19C>T
NM_024989.4(PGAP1):c.807+13del
NM_024989.4(PGAP1):c.861-14_861-11del rs751306632
NM_024989.4(PGAP1):c.927+12dup rs1162737906
NM_025074.7(FRAS1):c.*2824_*2825insTTTT rs397724155
NM_025074.7(FRAS1):c.*518dup rs397752464
NM_025074.7(FRAS1):c.*731C>G rs116483248
NM_025074.7(FRAS1):c.*808C>T rs59820455
NM_025074.7(FRAS1):c.-257G>T rs78363185
NM_025074.7(FRAS1):c.10648+25del rs397994139
NM_025074.7(FRAS1):c.11445+68_11445+69del rs3062747
NM_025074.7(FRAS1):c.2060A>G (p.Asp687Gly) rs345513
NM_025074.7(FRAS1):c.2313G>T (p.Pro771=) rs396790
NM_025074.7(FRAS1):c.380C>G (p.Pro127Arg) rs147709711
NM_025114.4(CEP290):c.181-10del rs1302625844
NM_025114.4(CEP290):c.181-10dup
NM_025114.4(CEP290):c.1825-17CT[2] rs367600498
NM_025114.4(CEP290):c.2052+15dup
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly) rs200454865
NM_025114.4(CEP290):c.2218-13dup rs143621850
NM_025114.4(CEP290):c.2218-5del rs143621850
NM_025114.4(CEP290):c.2268= (p.Ser756=) rs2468255
NM_025114.4(CEP290):c.2268A>G (p.Ser756=) rs2468255
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.2484-3dup
NM_025114.4(CEP290):c.2484-9del rs1189055838
NM_025114.4(CEP290):c.251-11del rs752284551
NM_025114.4(CEP290):c.251-19dup rs752284551
NM_025114.4(CEP290):c.3574-10_3574-9del
NM_025114.4(CEP290):c.3574-16dup rs10717563
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.4(CEP290):c.4195-3del
NM_025114.4(CEP290):c.4195-3dup
NM_025114.4(CEP290):c.441+18del
NM_025114.4(CEP290):c.441+18dup
NM_025114.4(CEP290):c.442-11del rs199511358
NM_025114.4(CEP290):c.442-22_442-21dup rs199511358
NM_025114.4(CEP290):c.442-22dup rs199511358
NM_025114.4(CEP290):c.495+8dup
NM_025114.4(CEP290):c.5227-14del rs747878752
NM_025114.4(CEP290):c.5227-23dup rs747878752
NM_025114.4(CEP290):c.5364+14C>T
NM_025114.4(CEP290):c.6270+18del rs371141771
NM_025114.4(CEP290):c.6522+11_6522+12del
NM_025114.4(CEP290):c.6522+11_6522+12dup
NM_025114.4(CEP290):c.6522+12del
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_025114.4(CEP290):c.6523-12dup rs1216267478
NM_025114.4(CEP290):c.6523-6del
NM_025114.4(CEP290):c.669+6del rs761225874
NM_025114.4(CEP290):c.670-3dup
NM_025114.4(CEP290):c.6819-15del
NM_025114.4(CEP290):c.6819-15dup
NM_025114.4(CEP290):c.7129+18dup
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs) rs569673313
NM_025114.4(CEP290):c.942+11del
NM_025114.4(CEP290):c.942+4dup rs558914208
NM_025132.4(WDR19):c.165-6dup
NM_025132.4(WDR19):c.2364-4del rs750106753
NM_025132.4(WDR19):c.2364-4dup rs750106753
NM_025132.4(WDR19):c.2364-5_2364-4del
NM_025132.4(WDR19):c.2730-5del rs756429071
NM_025132.4(WDR19):c.2730-5dup
NM_025132.4(WDR19):c.3566-10del
NM_025216.3(WNT10A):c.1003G>A (p.Asp335Asn) rs545956598
NM_025216.3(WNT10A):c.4G>A (p.Gly2Ser) rs533605522
NM_030928.4(CDT1):c.248C>T (p.Pro83Leu) rs139038990
NM_030943.4(AMN):c.1343_1348dup (p.Gly448_Ala449dup) rs36040113
NM_030943.4(AMN):c.514-34G>C rs144077391
NM_031466.8(TRAPPC9):c.-129_-109dup rs367682297
NM_031471.6(FERMT3):c.1312-11del
NM_031471.6(FERMT3):c.1671-15C>G rs78324705
NM_031471.6(FERMT3):c.1813-15_1813-14del rs528684268
NM_031471.6(FERMT3):c.1914G>C (p.Ser638=) rs192928228
NM_031471.6(FERMT3):c.515-7A>T
NM_031471.6(FERMT3):c.684-10C>G rs201247420
NM_031471.6(FERMT3):c.787-8del rs748191376
NM_031471.6(FERMT3):c.787-8dup rs748191376
NM_031885.3(BBS2):c.-191G>T rs16964239
NM_031885.3(BBS2):c.-242T>C rs12446354
NM_031885.5(BBS2):c.-137C>G rs77438708
NM_031885.5(BBS2):c.1527+17del
NM_031885.5(BBS2):c.266A>G (p.Tyr89Cys) rs560910758
NM_031885.5(BBS2):c.346-12del rs777667452
NM_031885.5(BBS2):c.472-13del
NM_031885.5(BBS2):c.534+11del
NM_031885.5(BBS2):c.534+11dup
NM_031885.5(BBS2):c.613-17dup
NM_031885.5(BBS2):c.613-5dup
NM_031885.5(BBS2):c.941-13dup
NM_031942.5(CDCA7):c.895-27C>G rs2288993
NM_032119.4(ADGRV1):c.18433-17_18433-16insCT rs1554239805
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn) rs41302834
NM_032119.4(ADGRV1):c.5953A>G (p.Asn1985Asp) rs41303352
NM_032119.4(ADGRV1):c.7945+27C>A rs10068473
NM_032119.4(ADGRV1):c.8730+21dup rs60522638
NM_032193.4(RNASEH2C):c.*948dup rs142614068
NM_032193.4(RNASEH2C):c.265AAG[1] (p.Lys90del) rs141875736
NM_032237.5(POMK):c.541C>T (p.Leu181=) rs563599638
NM_032492.4(JAGN1):c.*9T>C rs11554811
NM_032575.3(GLIS2):c.173-16T>C
NM_032575.3(GLIS2):c.523-20A>T
NM_032575.3(GLIS2):c.657-17C>T
NM_032806.6(POMGNT2):c.-43C>T rs2936818
NM_032856.5(WDR73):c.926ATGGAACACGGAGCCAAG[1] (p.309DGTRSQ[1]) rs11267906
NM_033028.5(BBS4):c.*608G>T rs12898814
NM_033028.5(BBS4):c.-17C>A rs56368716
NM_033028.5(BBS4):c.-6G>A rs367543011
NM_033028.5(BBS4):c.1223_1225dup (p.Asn408dup) rs752690768
NM_033028.5(BBS4):c.1451-14del
NM_033028.5(BBS4):c.24+9C>T
NM_033028.5(BBS4):c.28dup (p.Thr10fs) rs113994184
NM_033028.5(BBS4):c.406-11del
NM_033028.5(BBS4):c.864+12del
NM_033028.5(BBS4):c.864+12dup rs1476015172
NM_033028.5(BBS4):c.8A>C (p.Glu3Ala) rs113994183
NM_033056.3(PCDH15):c.4368-13_4368-10dup rs530804327
NM_033056.4(PCDH15):c.4831_4834dup (p.Thr1612fs) rs545191822
NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del) rs397517462
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1]) rs397517465
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del) rs113363047
NM_033064.5(ATCAY):c.*1540C>A rs140917952
NM_033064.5(ATCAY):c.*193del rs796133913
NM_033064.5(ATCAY):c.*2497C>T rs143923838
NM_033064.5(ATCAY):c.545-65T>C rs3810373
NM_033071.3(SYNE1):c.21832-2dup rs35128811
NM_033109.5(PNPT1):c.*11dup rs35916020
NM_033629.6(TREX1):c.678C>G (p.Phe226Leu)
NM_052989.3(IFT122):c.108+10dup
NM_052989.3(IFT122):c.1713G>T (p.Ser571=) rs150174636
NM_052989.3(IFT122):c.1836C>T (p.Ala612=)
NM_052989.3(IFT122):c.1993-7G>C rs2285354
NM_052989.3(IFT122):c.273-266G>A
NM_052989.3(IFT122):c.3051C>T (p.His1017=) rs538635135
NM_079420.3(MYL1):c.1dup (p.Met1fs) rs544557603
NM_080628.3(TLDC2):c.*244del
NM_080680.3(COL11A2):c.2682+26A>C rs9277932
NM_080680.3(COL11A2):c.826G>A (p.Glu276Lys) rs9277934
NM_138387.4(G6PC3):c.*151G>C rs1046770
NM_138694.4(PKHD1):c.*3393C>A rs2784198
NM_138694.4(PKHD1):c.10411G>A (p.Val3471Ile) rs553752644
NM_138694.4(PKHD1):c.10737A>G (p.Val3579=) rs555442845
NM_138694.4(PKHD1):c.1088G>A (p.Gly363Glu) rs573293029
NM_138694.4(PKHD1):c.11506+32dup rs376358912
NM_138694.4(PKHD1):c.11507-12del rs771337119
NM_138694.4(PKHD1):c.11507-7G>A rs373438297
NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu) rs76572975
NM_138694.4(PKHD1):c.11665+17_11665+18dup
NM_138694.4(PKHD1):c.11665+18del
NM_138694.4(PKHD1):c.11665+9dup rs373325476
NM_138694.4(PKHD1):c.11786-3del rs1451393969
NM_138694.4(PKHD1):c.11786-9del
NM_138694.4(PKHD1):c.1513-3del rs2128209912
NM_138694.4(PKHD1):c.1603-13del
NM_138694.4(PKHD1):c.1603-13dup
NM_138694.4(PKHD1):c.2463C>G (p.Ala821=) rs9474136
NM_138694.4(PKHD1):c.2934G>A (p.Gln978=) rs536715802
NM_138694.4(PKHD1):c.3024C>T (p.Ala1008=) rs559684657
NM_138694.4(PKHD1):c.3791C>G (p.Thr1264Ser)
NM_138694.4(PKHD1):c.449-15TTC[2] rs545812620
NM_138694.4(PKHD1):c.4844C>T (p.Thr1615Met) rs147529495
NM_138694.4(PKHD1):c.5199C>A (p.Thr1733=) rs148790132
NM_138694.4(PKHD1):c.5237-11dup
NM_138694.4(PKHD1):c.528-17dup rs753686281
NM_138694.4(PKHD1):c.528-9del rs753686281
NM_138694.4(PKHD1):c.53-14dup
NM_138694.4(PKHD1):c.6333-13dup rs138161138
NM_138694.4(PKHD1):c.6333-8_6333-7del rs138161138
NM_138694.4(PKHD1):c.707+143A>C rs4711996
NM_138694.4(PKHD1):c.7215+11T>A
NM_138694.4(PKHD1):c.7215+12del
NM_138694.4(PKHD1):c.7215+12dup
NM_138694.4(PKHD1):c.733C>T (p.Leu245=) rs111809699
NM_138694.4(PKHD1):c.7351-15del
NM_138694.4(PKHD1):c.7351-21dup rs768522482
NM_138694.4(PKHD1):c.7486+41C>A rs982874
NM_138694.4(PKHD1):c.7734-20del
NM_138694.4(PKHD1):c.7734-27_7734-26dup rs201176305
NM_138694.4(PKHD1):c.7734-27dup rs201176305
NM_138694.4(PKHD1):c.778+12del
NM_138694.4(PKHD1):c.779-25dup rs5876252
NM_138694.4(PKHD1):c.786A>G (p.Leu262=) rs570064466
NM_138694.4(PKHD1):c.8174-18dup rs566540835
NM_138694.4(PKHD1):c.8174-19dup
NM_138694.4(PKHD1):c.8555-16C>A
NM_138775.3(ALKBH8):c.772-72_772-71del rs5794554
NM_139343.3(BIN1):c.*82C>A rs111649895
NM_139343.3(BIN1):c.1132-22TGC[7] rs748026377
NM_139343.3(BIN1):c.1573-63C>T rs7558000
NM_139343.3(BIN1):c.1573-72C>T rs7558001
NM_144508.5(KNL1):c.6173-13del rs34904135
NM_144596.4(TTC8):c.1464G>C (p.Ala488=) rs142073418
NM_144672.4(OTOA):c.2302-26C>T rs56065183
NM_144772.3(NAXE):c.292-14G>A rs942959
NM_144992.5(VWA3B):c.2843+36dup rs113487988
NM_145861.4(EDARADD):c.*1601C>A rs3916983
NM_145861.4(EDARADD):c.*1601C>G rs3916983
NM_145861.4(EDARADD):c.*956C>T rs201986008
NM_145861.4(EDARADD):c.161-6del rs555177993
NM_145861.4(EDARADD):c.161-6dup rs555177993
NM_147127.5(EVC2):c.1146-12dup
NM_147127.5(EVC2):c.1710+16C>T
NM_147127.5(EVC2):c.1711-10del rs35103377
NM_147127.5(EVC2):c.1711-11_1711-10del rs35103377
NM_147127.5(EVC2):c.1711-11_1711-10dup rs35103377
NM_147127.5(EVC2):c.1711-12_1711-10dup rs35103377
NM_147127.5(EVC2):c.1711-20dup rs35103377
NM_147127.5(EVC2):c.2047-18dup
NM_147127.5(EVC2):c.2394_2395delinsAC (p.Asp799His) rs1577169974
NM_147127.5(EVC2):c.2571C>T (p.Gly857=) rs533262793
NM_147127.5(EVC2):c.3272+8G>A rs201800139
NM_147127.5(EVC2):c.3272+8G>C rs201800139
NM_147127.5(EVC2):c.451-16_451-15del rs377541465
NM_147196.3(TMIE):c.367AAG[8] (p.Lys131del) rs10578999
NM_152384.3(BBS5):c.258+14dup
NM_152384.3(BBS5):c.523-5del
NM_152384.3(BBS5):c.619-16_619-15del rs762885469
NM_152617.4(RNF168):c.378+26del rs62798260
NM_152618.3(BBS12):c.580C>A (p.Leu194Ile) rs200300023
NM_153240.5(NPHP3):c.1118+16del rs560151715
NM_153240.5(NPHP3):c.1118+16dup rs560151715
NM_153240.5(NPHP3):c.1276-7del rs2107987665
NM_153240.5(NPHP3):c.1525-13dup rs762115717
NM_153240.5(NPHP3):c.2884-16dup rs2107967791
NM_153240.5(NPHP3):c.3125+7dup rs11396595
NM_153240.5(NPHP3):c.3126-4del rs398124547
NM_153240.5(NPHP3):c.3571-3dup
NM_153240.5(NPHP3):c.3697-14dup rs564013823
NM_153240.5(NPHP3):c.3697-7del rs564013823
NM_153240.5(NPHP3):c.3813-12del rs2107960657
NM_153676.4(USH1C):c.*419_*420insAACA rs10626485
NM_153676.4(USH1C):c.1261-34C>T rs2190454
NM_153676.4(USH1C):c.2134-22dup rs397848183
NM_153676.4(USH1C):c.225T>C (p.Asp75=) rs111033279
NM_153676.4(USH1C):c.2546+125A>G rs2072229
NM_153676.4(USH1C):c.324T>C (p.Phe108=) rs549758189
NM_153676.4(USH1C):c.496+33= rs12795083
NM_153700.2(STRC):c.22CTG[10] (p.Leu18del) rs1567120678
NM_153717.3(EVC):c.*1845del rs397690241
NM_153717.3(EVC):c.1099-167G>C rs6810769
NM_153717.3(EVC):c.1099-208C>T rs6812234
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys) rs2302075
NM_153717.3(EVC):c.154C>T (p.Arg52Cys)
NM_153717.3(EVC):c.1563+185A>G rs12499655
NM_153717.3(EVC):c.162C>T (p.Arg54=) rs1305323625
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln) rs1383180
NM_153717.3(EVC):c.1777-6G>A rs565093715
NM_153717.3(EVC):c.1854C>T (p.Gly618=) rs11737221
NM_153717.3(EVC):c.2449+15del rs398092136
NM_153717.3(EVC):c.2449+15dup rs398092136
NM_153717.3(EVC):c.2449+16del
NM_153717.3(EVC):c.2562-3del
NM_153717.3(EVC):c.2562-4C>G rs60082311
NM_153717.3(EVC):c.2895-10_2895-9del rs371125826
NM_153717.3(EVC):c.2895-16_2895-13del rs773917688
NM_153717.3(EVC):c.612C>T (p.Cys204=) rs553634958
NM_153717.3(EVC):c.71C>A (p.Ala24Glu)
NM_153717.3(EVC):c.802-12_802-11del rs372546602
NM_153717.3(EVC):c.91G>A (p.Ala31Thr)
NM_170682.4(P2RX2):c.173+28_173+41del rs200710959
NM_170784.3(MKKS):c.986-4dup
NM_173076.3(ABCA12):c.*1052_*1055dup rs71399158
NM_173483.4(CYP4F22):c.939+15_939+16del rs537649124
NM_173551.5(ANKS6):c.1112+11G>A
NM_173551.5(ANKS6):c.2127C>T (p.Ser709=)
NM_173551.5(ANKS6):c.2203C>G (p.Pro735Ala) rs79414550
NM_173551.5(ANKS6):c.2327-19del rs575021016
NM_173551.5(ANKS6):c.2327-19dup rs575021016
NM_173551.5(ANKS6):c.360-126C>A rs7038640
NM_173551.5(ANKS6):c.862+19dup
NM_174878.3(CLRN1):c.*277GT[13] rs34027634
NM_174889.4(NDUFAF2):c.-91C>T rs4647036
NM_174916.3(UBR1):c.81+32T>C rs68062403
NM_176824.3(BBS7):c.*729del rs3217754
NM_176824.3(BBS7):c.1231-15del
NM_176824.3(BBS7):c.1231-15dup rs747444432
NM_176824.3(BBS7):c.1372-13dup
NM_176824.3(BBS7):c.166-4del
NM_176824.3(BBS7):c.166-4dup
NM_176824.3(BBS7):c.1677-17del
NM_176824.3(BBS7):c.849+17del
NM_176824.3(BBS7):c.849+17dup
NM_178170.3(NEK8):c.1732+8_1732+10del rs3833163
NM_181741.4(ORC4):c.-17-11dup rs2307399
NM_181741.4(ORC4):c.763-9del rs66919703
NM_182548.4(LHFPL5):c.*560G>C rs9462125
NM_182961.4(SYNE1):c.11254-31T>G rs6932325
NM_182961.4(SYNE1):c.11581-15dup rs5880967
NM_182961.4(SYNE1):c.11581-16_11581-15dup rs5880967
NM_182961.4(SYNE1):c.12362_12363delinsGT (p.Lys4121Ser) rs386707192
NM_182961.4(SYNE1):c.1351-15del
NM_182961.4(SYNE1):c.16237-3del rs752661566
NM_182961.4(SYNE1):c.16237-3dup
NM_182961.4(SYNE1):c.1632+11del rs763013262
NM_182961.4(SYNE1):c.16476A>G (p.Gln5492=) rs141380170
NM_182961.4(SYNE1):c.16896+20del rs545568394
NM_182961.4(SYNE1):c.16896+9dup rs761957607
NM_182961.4(SYNE1):c.17203-6del rs55633181
NM_182961.4(SYNE1):c.18153C>T (p.Ala6051=) rs201090220
NM_182961.4(SYNE1):c.18573+16G>A rs368633364
NM_182961.4(SYNE1):c.19894-17T>A rs542545053
NM_182961.4(SYNE1):c.20863-3dup rs755011653
NM_182961.4(SYNE1):c.21523-8del
NM_182961.4(SYNE1):c.21523-8dup rs761577958
NM_182961.4(SYNE1):c.225+14dup
NM_182961.4(SYNE1):c.2250+8del
NM_182961.4(SYNE1):c.24225A>G (p.Ala8075=) rs910415
NM_182961.4(SYNE1):c.26095-17dup
NM_182961.4(SYNE1):c.26204G>A (p.Arg8735Gln) rs2295192
NM_182961.4(SYNE1):c.310-506C>A
NM_182961.4(SYNE1):c.3670-14del rs111322292
NM_182961.4(SYNE1):c.3670-14dup rs111322292
NM_182961.4(SYNE1):c.4150-5dup rs776033844
NM_182961.4(SYNE1):c.779-11dup rs769649801
NM_182961.4(SYNE1):c.779-4dup rs567435072
NM_182961.4(SYNE1):c.9495A>G (p.Glu3165=) rs6913579
NM_194248.3(OTOF):c.2580C>G (p.Val860=) rs2272069
NM_194248.3(OTOF):c.4873G>A (p.Val1625Met) rs80356579
NM_194248.3(OTOF):c.4936C>T (p.Pro1646Ser) rs17005371
NM_194248.3(OTOF):c.62C>T (p.Ala21Val) rs2148144145
NM_198428.3(BBS9):c.1790-8del
NM_198428.3(BBS9):c.1790-8dup
NM_198428.3(BBS9):c.2633-5dup rs761809109
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTNNNNNNNNNNAGACAACTGGTTAGCCAGGATGGTCTCGTTCGCGGGTACTCCAGATCCACCCGCCTCTGACTCCCAACGTGCTGGGAGTACAGGCGTGAGCCACCGCGCCCGGCCAGAAATATTTTT rs2128114877
NM_198428.3(BBS9):c.329-7del rs753552530
NM_198428.3(BBS9):c.329-7dup rs753552530
NM_198428.3(BBS9):c.442+13dup
NM_198428.3(BBS9):c.531C>A (p.Gly177=) rs113518488
NM_198428.3(BBS9):c.702+15dup rs756949696
NM_198525.3(KIF7):c.195G>C (p.Ala65=) rs8179066
NM_198525.3(KIF7):c.3345C>G (p.His1115Gln) rs142032413
NM_201253.3(CRB1):c.3258T>A (p.Ala1086=) rs535494663
NM_201378.4(PLEC):c.70+12dup rs1406818581
NM_201384.3(PLEC):c.10296C>A (p.Ala3432=) rs201848957
NM_201384.3(PLEC):c.10612T>C (p.Leu3538=) rs6992333
NM_201384.3(PLEC):c.12996C>T (p.Val4332=)
NM_201384.3(PLEC):c.13350G>A (p.Leu4450=) rs534414054
NM_201384.3(PLEC):c.1395G>C (p.Pro465=) rs199865222
NM_201384.3(PLEC):c.174+22G>C rs7823393
NM_201384.3(PLEC):c.1816-15C>T rs782723953
NM_201384.3(PLEC):c.2178+9C>G rs114256617
NM_201384.3(PLEC):c.2178+9C>T rs114256617
NM_201384.3(PLEC):c.2179-15del
NM_201384.3(PLEC):c.2304+9dup rs35671527
NM_201384.3(PLEC):c.2305-11del
NM_201384.3(PLEC):c.2612+18A>T rs572842527
NM_201384.3(PLEC):c.2748C>T (p.Thr916=) rs372942259
NM_201384.3(PLEC):c.3081+19del
NM_201384.3(PLEC):c.3081+19dup rs782004958
NM_201384.3(PLEC):c.3745C>A (p.Arg1249=) rs201552166
NM_201384.3(PLEC):c.378T>C (p.Ala126=) rs6993938
NM_201384.3(PLEC):c.378T>G (p.Ala126=) rs6993938
NM_201384.3(PLEC):c.4045-26TCT[2]
NM_201384.3(PLEC):c.5082G>A (p.Leu1694=) rs182961574
NM_201384.3(PLEC):c.5082G>C (p.Leu1694=) rs182961574
NM_201384.3(PLEC):c.6318G>A (p.Gln2106=) rs556328818
NM_201384.3(PLEC):c.7830G>A (p.Ala2610=) rs376112916
NM_201384.3(PLEC):c.8019G>A (p.Ala2673=) rs374178650
NM_201384.3(PLEC):c.8430C>G (p.Ile2810Met) rs62641758
NM_201384.3(PLEC):c.945+18G>C
NM_201384.3(PLEC):c.945+19dup rs782770561
NM_201384.3(PLEC):c.946-33C>G rs6994460
NM_203486.3(DLL3):c.546C>G (p.Ala182=) rs8106337
NM_206933.4(USH2A):c.*4A>G rs530405236
NM_206933.4(USH2A):c.10246T>G (p.Cys3416Gly) rs527236140
NM_206933.4(USH2A):c.11389+14del rs79494833
NM_206933.4(USH2A):c.11549-5del rs34565443
NM_206933.4(USH2A):c.11549-5dup rs34565443
NM_206933.4(USH2A):c.11602A>G (p.Met3868Val) rs35309576
NM_206933.4(USH2A):c.12067-31del rs5780842
NM_206933.4(USH2A):c.12743A>G (p.His4248Arg) rs145830318
NM_206933.4(USH2A):c.1328+37_1328+40del rs145313346
NM_206933.4(USH2A):c.14513G>A (p.Gly4838Glu) rs41315587
NM_206933.4(USH2A):c.15428G>A (p.Arg5143His) rs111033435
NM_206933.4(USH2A):c.1645-8del rs763490382
NM_206933.4(USH2A):c.3317-25dup rs376363548
NM_206933.4(USH2A):c.4252-15dup rs770949401
NM_206933.4(USH2A):c.4627+48A>T rs74874838
NM_206933.4(USH2A):c.5573-34del rs35944387
NM_206933.4(USH2A):c.6510T>G (p.Ser2170Arg) rs373604102
NM_206933.4(USH2A):c.7121-14del rs536181325
NM_207361.6(FREM2):c.*1467G>A rs9548523
NM_207361.6(FREM2):c.*2140C>G rs7324632
NM_207361.6(FREM2):c.*5598T>G rs1945506
NM_207361.6(FREM2):c.*5627del rs5802961
NM_207361.6(FREM2):c.176G>A (p.Gly59Asp) rs115327344
NM_207361.6(FREM2):c.2308G>A (p.Val770Met) rs7327915
NM_207361.6(FREM2):c.6196C>T (p.Arg2066Cys) rs9548505
NM_207361.6(FREM2):c.7520-6_7520-5dup rs36084034
NM_207361.6(FREM2):c.9357G>C (p.Thr3119=) rs41306664
NM_213599.3(ANO5):c.*113del rs5790246
NM_213599.3(ANO5):c.*1762del rs398015552
NM_213599.3(ANO5):c.*3481dup rs147581685
NM_213599.3(ANO5):c.-217G>T rs73479393
NM_213599.3(ANO5):c.138+10G>A rs78987921
NM_213599.3(ANO5):c.139-164del rs60388835
NM_213599.3(ANO5):c.1631-11del
NM_213599.3(ANO5):c.1631-11dup rs202244923
NM_213599.3(ANO5):c.2029+9dup
NM_213599.3(ANO5):c.2236-10del rs72105710
NM_213599.3(ANO5):c.2236-10dup rs72105710
NM_213599.3(ANO5):c.2236-12_2236-10del rs72105710
NM_213599.3(ANO5):c.2236-13_2236-10del rs72105710
NM_213599.3(ANO5):c.2415-22del rs5790245
NM_213599.3(ANO5):c.2646C>G (p.Asn882Lys) rs34969327
NM_213599.3(ANO5):c.295-8dup rs778435515
NM_213599.3(ANO5):c.364-8del rs146983312
NM_213599.3(ANO5):c.879-7_879-6del rs143977836
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe) rs7481951
NR_002717.2(ATXN8OS):n.1103CTG[15_40]
NR_003051.3(RMRP):n.-20C>G rs183974004
NR_003051.3(RMRP):n.-55A>G rs12551232
NR_003051.3(RMRP):n.-5G>A rs7024732
NR_003051.4(RMRP):n.54dup rs151011853
Single allele

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