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
|
|
|