|
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_080680.3(COL11A2):c.1360-7A>C
|
rs3129201
|
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.576G>A (p.Glu192=)
|
rs1868464
|
0.99992
|
|
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_004525.3(LRP2):c.63G>C (p.Ala21=)
|
rs1559014
|
0.99771
|
|
NM_001081.4(CUBN):c.6485G>A (p.Cys2162Tyr)
|
rs1276712
|
0.99748
|
|
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_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_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_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_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_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_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_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_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_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.285+42T>C
|
rs2329024
|
0.97521
|
|
NM_001171.6(ABCC6):c.2788-154T>C
|
rs6498608
|
0.97501
|
|
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_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_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_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_001171.6(ABCC6):c.1432-48G>A
|
rs7193932
|
0.95000
|
|
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_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_033109.5(PNPT1):c.1247+29C>T
|
rs782604
|
0.93874
|
|
NM_025074.7(FRAS1):c.604-8G>A
|
rs2867014
|
0.93589
|
|
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_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_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_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_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_206933.4(USH2A):c.4082-66A>C
|
rs386851
|
0.90510
|
|
NM_005529.7(HSPG2):c.1507+38A>G
|
rs4654994
|
0.90430
|
|
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_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_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_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.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_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_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_001367624.2(ZNF469):c.4343C>T (p.Pro1448Leu)
|
rs4782300
|
0.87223
|
|
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_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_004937.3(CTNS):c.779C>T (p.Thr260Ile)
|
rs161400
|
0.84806
|
|
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_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_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_015102.5(NPHP4):c.2612-33G>A
|
rs3747989
|
0.83595
|
|
NM_021116.4(ADCY1):c.1149-29T>C
|
rs2471231
|
0.83461
|
|
NM_001081.4(CUBN):c.6463-22A>C
|
rs1276713
|
0.83410
|
|
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_031942.5(CDCA7):c.622-128C>T
|
rs4972555
|
0.83121
|
|
NM_013382.7(POMT2):c.1383G>A (p.Arg461=)
|
rs2270419
|
0.82874
|
|
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_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_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_004526.4(MCM2):c.2013+10A>G
|
rs782427
|
0.81303
|
|
NM_005702.4(ERAL1):c.945C>T (p.Asp315=)
|
rs2242345
|
0.81174
|
|
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_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_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_001130987.2(DYSF):c.5004-37C>T
|
rs2303599
|
0.79706
|
|
NM_020921.4(NIN):c.3374A>C (p.Gln1125Pro)
|
rs12882191
|
0.79682
|
|
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_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_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_018429.3(BDP1):c.3792C>G (p.Ile1264Met)
|
rs715747
|
0.77391
|
|
NM_000091.5(COL4A3):c.145-99C>T
|
rs7579991
|
0.77329
|
|
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_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_000601.6(HGF):c.1272-4A>G
|
rs1800793
|
0.76662
|
|
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_005422.4(TECTA):c.1485A>G (p.Ala495=)
|
rs536069
|
0.76077
|
|
NM_001081.4(CUBN):c.7912+25T>C
|
rs780807
|
0.76044
|
|
NM_001614.5(ACTG1):c.918C>T (p.Tyr306=)
|
rs1139405
|
0.75861
|
|
NM_001042517.2(DIAPH3):c.627-20G>A
|
rs2762134
|
0.75789
|
|
NM_015046.7(SETX):c.1077T>C (p.Tyr359=)
|
rs9411449
|
0.75774
|
|
NM_001177701.3(IFT27):c.174+21G>A
|
rs1048012
|
0.75738
|
|
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_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_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_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_001199799.2(ILDR1):c.1545T>G (p.Leu515=)
|
rs2877561
|
0.73781
|
|
NM_032119.4(ADGRV1):c.5851G>A (p.Val1951Ile)
|
rs4916684
|
0.73682
|
|
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_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_032119.4(ADGRV1):c.9907-35A>C
|
rs7723259
|
0.72915
|
|
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_016356.5(DCDC2):c.*3C>G
|
rs9358755
|
0.72045
|
|
NM_153717.3(EVC):c.2894+18A>G
|
rs2279250
|
0.71871
|
|
NM_001378609.3(OTOGL):c.2519-31A>G
|
rs4483657
|
0.71868
|
|
NM_001042472.3(ABHD12):c.191+31_191+36del
|
rs139848340
|
0.71682
|
|
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_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_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_017433.5(MYO3A):c.2716-29G>A
|
rs3818956
|
0.70675
|
|
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_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_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_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_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_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_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_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_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_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_012463.4(ATP6V0A2):c.432+14C>T
|
rs11837144
|
0.65907
|
|
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_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_002857.4(PEX19):c.594+37T>C
|
rs2795067
|
0.64655
|
|
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_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_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_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_000083.3(CLCN1):c.1065-108G>A
|
rs2242493
|
0.63143
|
|
NM_018389.5(SLC35C1):c.*49G>A
|
rs1139266
|
0.63052
|
|
NM_000426.4(LAMA2):c.7830G>C (p.Val2610=)
|
rs2229849
|
0.63028
|
|
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_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_006297.3(XRCC1):c.1896A>G (p.Gln632=)
|
rs3547
|
0.62026
|
|
NM_022124.6(CDH23):c.1134+164C>G
|
rs7903772
|
0.61986
|
|
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_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_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_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_001130987.2(DYSF):c.1449+13C>T
|
rs4852801
|
0.60553
|
|
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_017807.4(OSGEP):c.236-32T>C
|
rs2275006
|
0.59820
|
|
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_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_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_000370.3(TTPA):c.663+11T>C
|
rs4501570
|
0.59337
|
|
NM_182961.4(SYNE1):c.11734-5T>G
|
rs9478320
|
0.59305
|
|
NM_005883.3(APC2):c.413+95T>C
|
rs12985827
|
0.59265
|
|
NM_000260.4(MYO7A):c.4324-207C>G
|
rs12802853
|
0.59234
|
|
NM_000260.4(MYO7A):c.4324-202A>G
|
rs12421897
|
0.59230
|
|
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_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_002470.4(MYH3):c.2151C>A (p.Gly717=)
|
rs876657
|
0.58590
|
|
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_001081.4(CUBN):c.1165C>A (p.Pro389Thr)
|
rs1801224
|
0.57919
|
|
NM_080680.3(COL11A2):c.2628+3G>A
|
rs970901
|
0.57903
|
|
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_153676.4(USH1C):c.-183T>G
|
rs1859819
|
0.57652
|
|
NM_000287.4(PEX6):c.2667-48G>A
|
rs2274517
|
0.57547
|
|
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_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_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_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_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.2241-26T>C
|
rs3764926
|
0.56233
|
|
NM_018075.5(ANO10):c.1293+9A>G
|
rs7616708
|
0.56196
|
|
NM_153676.4(USH1C):c.37-45C>G
|
rs2240489
|
0.56124
|
|
NM_153676.4(USH1C):c.760-66T>C
|
rs4757539
|
0.56102
|
|
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_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_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_018669.6(WDR4):c.213G>C (p.Lys71Asn)
|
rs2248490
|
0.55249
|
|
NM_001278064.2(GRM1):c.3495C>A (p.Pro1165=)
|
rs9373491
|
0.55222
|
|
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_001378454.1(ALMS1):c.12089G>A (p.Arg4030Lys)
|
rs1052161
|
0.54502
|
|
NM_004525.3(LRP2):c.2460A>G (p.Thr820=)
|
rs2241190
|
0.54408
|
|
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_016042.4(EXOSC3):c.498G>A (p.Gln166=)
|
rs7158
|
0.53959
|
|
NM_201384.3(PLEC):c.11628A>G (p.Pro3876=)
|
rs7822511
|
0.53938
|
|
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_014425.5(INVS):c.2412T>C (p.Ser804=)
|
rs2787374
|
0.53208
|
|
NM_002473.6(MYH9):c.1554+7A>G
|
rs3752462
|
0.53193
|
|
NM_021828.5(HPSE2):c.1736A>T (p.Tyr579Phe)
|
rs10883100
|
0.53113
|
|
NM_170682.4(P2RX2):c.997-40C>T
|
rs4883632
|
0.53086
|
|
NM_213599.3(ANO5):c.*496A>G
|
rs10766930
|
0.53080
|
|
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_020921.4(NIN):c.1128T>C (p.Val376=)
|
rs17793018
|
0.52775
|
|
NM_153717.3(EVC):c.1026G>C (p.Leu342=)
|
rs4688962
|
0.52761
|
|
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_198525.3(KIF7):c.3013G>A (p.Gly1005Arg)
|
rs12900805
|
0.52523
|
|
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_002913.5(RFC1):c.2808+36C>G
|
rs2066788
|
0.52121
|
|
NM_016529.6(ATP8A2):c.3183+95C>T
|
rs2249800
|
0.52080
|
|
NM_016239.4(MYO15A):c.4954C>T (p.Leu1652=)
|
rs2280777
|
0.52028
|
|
NM_182961.4(SYNE1):c.3505-39A>C
|
rs502268
|
0.51916
|
|
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_017807.4(OSGEP):c.558-17C>T
|
rs938882
|
0.51822
|
|
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_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_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_005529.7(HSPG2):c.3897G>A (p.Val1299=)
|
rs2229482
|
0.50526
|
|
NM_004525.3(LRP2):c.3660A>G (p.Ala1220=)
|
rs831042
|
0.50520
|
|
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_000019.4(ACAT1):c.435+78A>C
|
rs10890817
|
0.49701
|
|
NM_030928.4(CDT1):c.784A>G (p.Thr262Ala)
|
rs480727
|
0.49695
|
|
NM_016373.4(WWOX):c.1057-40T>C
|
rs384216
|
0.49671
|
|
NM_000092.5(COL4A4):c.4207T>C (p.Ser1403Pro)
|
rs3752895
|
0.49558
|
|
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_001256317.3(TMPRSS3):c.453G>A (p.Val151=)
|
rs2839501
|
0.49190
|
|
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_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_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_182961.4(SYNE1):c.7713-49G>A
|
rs214944
|
0.47302
|
|
NM_001042545.2(LTBP4):c.2158A>G (p.Thr720Ala)
|
rs1131620
|
0.47295
|
|
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_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_018063.5(HELLS):c.31+20T>C
|
rs10882474
|
0.47048
|
|
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_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_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_001160372.4(TRAPPC9):c.411C>T (p.Asn137=)
|
rs3735803
|
0.45974
|
|
NM_201384.3(PLEC):c.1264-15G>A
|
rs7003580
|
0.45916
|
|
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_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_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_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_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_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_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_000083.3(CLCN1):c.2154C>T (p.Asp718=)
|
rs2272251
|
0.44456
|
|
NM_000543.5(SMPD1):c.107T>C (p.Val36Ala)
|
rs1050228
|
0.44445
|
|
NM_015046.7(SETX):c.6655-24G>A
|
rs11243704
|
0.44367
|
|
NM_000414.4(HSD17B4):c.1261+47A>G
|
rs455949
|
0.44330
|
|
NM_000083.3(CLCN1):c.1402-9C>T
|
rs2272252
|
0.44267
|
|
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_144498.4(OSBPL2):c.1125+15A>G
|
rs2297592
|
0.44193
|
|
NM_006846.4(SPINK5):c.1389A>G (p.Gly463=)
|
rs6896303
|
0.44173
|
|
NM_006846.4(SPINK5):c.1302+19G>A
|
rs2303068
|
0.44163
|
|
NM_006846.4(SPINK5):c.1258A>G (p.Lys420Glu)
|
rs2303067
|
0.44148
|
|
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_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_001267727.2(ARSG):c.820T>C (p.Trp274Arg)
|
rs1558878
|
0.43728
|
|
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_207361.6(FREM2):c.3209T>C (p.Phe1070Ser)
|
rs2496425
|
0.43515
|
|
NM_021628.3(ALOXE3):c.1685-117A>G
|
rs2289587
|
0.43486
|
|
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_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_001128431.4(SLC39A14):c.457+45G>T
|
rs3817445
|
0.43048
|
|
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_001171.6(ABCC6):c.1890C>G (p.Thr630=)
|
rs8058696
|
0.42733
|
|
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_000123.4(ERCC5):c.2879+14C>T
|
rs4150360
|
0.42594
|
|
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_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_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_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_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_001124758.3(SPNS2):c.1443+28A>G
|
rs12945732
|
0.41588
|
|
NM_022089.4(ATP13A2):c.2970G>A (p.Val990=)
|
rs761421
|
0.41522
|
|
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_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_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.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_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_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_015404.4(WHRN):c.2348T>C (p.Val783Ala)
|
rs2274159
|
0.40624
|
|
NM_006297.3(XRCC1):c.618A>G (p.Pro206=)
|
rs915927
|
0.40597
|
|
NM_000287.4(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_001378454.1(ALMS1):c.4244G>C (p.Gly1415Ala)
|
rs6546837
|
0.39736
|
|
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_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_138694.4(PKHD1):c.7734-4T>C
|
rs7452724
|
0.39369
|
|
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_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_002617.4(PEX10):c.776+33G>T
|
rs3795269
|
0.38841
|
|
NM_001384140.1(PCDH15):c.4203-162T>C
|
rs4935472
|
0.38838
|
|
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_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_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.*55T>A
|
rs4784319
|
0.37955
|
|
NM_004100.5(EYA4):c.829G>A (p.Gly277Ser)
|
rs9493627
|
0.37885
|
|
NM_022772.4(EPS8L2):c.774C>T (p.Ile258=)
|
rs7635
|
0.37863
|
|
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_006297.3(XRCC1):c.1481+9G>A
|
rs25479
|
0.37650
|
|
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_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_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_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_015102.5(NPHP4):c.2802C>T (p.Arg934=)
|
rs3747992
|
0.36928
|
|
NM_003630.3(PEX3):c.524-19T>C
|
rs22908
|
0.36866
|
|
NM_001287.6(CLCN7):c.1618-49G>A
|
rs742408
|
0.36776
|
|
NM_004260.4(RECQL4):c.3014G>A (p.Arg1005Gln)
|
rs4251691
|
0.36660
|
|
NM_015311.3(OBSL1):c.1283-18T>A
|
rs2292360
|
0.36635
|
|
NM_004260.4(RECQL4):c.3502+24G>A
|
rs2279243
|
0.36505
|
|
NM_004426.3(PHC1):c.2077A>G (p.Thr693Ala)
|
rs1049925
|
0.36410
|
|
NM_000414.4(HSD17B4):c.434+44T>C
|
rs457106
|
0.36386
|
|
NM_001129.5(AEBP1):c.817C>A (p.Pro273Thr)
|
rs2537188
|
0.36288
|
|
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_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_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_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_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_015102.5(NPHP4):c.3645-38C>T
|
rs1287634
|
0.34998
|
|
NM_022124.6(CDH23):c.624+64C>T
|
rs7087735
|
0.34986
|
|
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile)
|
rs2042996
|
0.34979
|
|
NM_001124758.3(SPNS2):c.436+31G>A
|
rs9894697
|
0.34965
|
|
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_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_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_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_016239.4(MYO15A):c.2152T>G (p.Trp718Gly)
|
rs2955367
|
0.34123
|
|
NM_000245.4(MET):c.4092G>A (p.Pro1364=)
|
rs41737
|
0.34093
|
|
NM_000245.4(MET):c.4017G>A (p.Ala1339=)
|
rs2023748
|
0.34017
|
|
NM_000426.4(LAMA2):c.3174+38A>G
|
rs902373
|
0.33937
|
|
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_000245.4(MET):c.3858C>T (p.Asp1286=)
|
rs41736
|
0.33828
|
|
NM_014321.4(ORC6):c.-20T>C
|
rs33994299
|
0.33690
|
|
NM_001184.4(ATR):c.1815T>C (p.Asp605=)
|
rs2227929
|
0.33689
|
|
NM_022124.6(CDH23):c.2060-176C>T
|
rs2290026
|
0.33636
|
|
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_153717.3(EVC):c.939+4C>T
|
rs2286343
|
0.33466
|
|
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_138694.4(PKHD1):c.8441-32G>C
|
rs3920621
|
0.33143
|
|
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.117G>A (p.Val39=)
|
rs2297815
|
0.33019
|
|
NM_001292063.2(OTOG):c.2561+10G>A
|
rs4756901
|
0.33002
|
|
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_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_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_002485.5(NBN):c.994+233G>A
|
rs6990969
|
0.32471
|
|
NM_002160.4(TNC):c.1867+31T>A
|
rs1617917
|
0.32336
|
|
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_022095.4(ZNF335):c.642C>T (p.Ser214=)
|
rs3848719
|
0.32130
|
|
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_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_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_015046.7(SETX):c.5811T>C (p.Asp1937=)
|
rs2296869
|
0.31585
|
|
NM_000360.4(TH):c.241G>A (p.Val81Met)
|
rs6356
|
0.31555
|
|
NM_080680.3(COL11A2):c.877-4T>A
|
rs1799907
|
0.31476
|
|
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_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_153676.4(USH1C):c.522-45del
|
rs5789990
|
0.31188
|
|
NM_001267550.2(TTN):c.23099-3T>C
|
rs2562830
|
0.31174
|
|
NM_015404.4(WHRN):c.964-21A>G
|
rs2274163
|
0.31128
|
|
NM_005807.6(PRG4):c.1810A>G (p.Thr604Ala)
|
rs61831150
|
0.31104
|
|
NM_004618.5(TOP3A):c.2022-39C>A
|
rs6502644
|
0.31103
|
|
NM_025074.7(FRAS1):c.5366+13T>G
|
rs2170899
|
0.31001
|
|
NM_001614.5(ACTG1):c.930C>T (p.Ala310=)
|
rs1135989
|
0.30776
|
|
NM_001384474.1(LOXHD1):c.4530+25C>T
|
rs59252058
|
0.30760
|
|
NM_194248.3(OTOF):c.510-39C>T
|
rs884390
|
0.30697
|
|
NM_138694.4(PKHD1):c.9998+175T>C
|
rs35999523
|
0.30649
|
|
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_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_001142633.3(PIK3R5):c.2496-46A>G
|
rs4791764
|
0.30344
|
|
NM_002485.5(NBN):c.553G>C (p.Glu185Gln)
|
rs1805794
|
0.30329
|
|
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_014425.5(INVS):c.1235-5T>C
|
rs2245216
|
0.30271
|
|
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_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_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_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_203486.3(DLL3):c.515T>G (p.Phe172Cys)
|
rs8107127
|
0.29570
|
|
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_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_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_000091.5(COL4A3):c.144+12C>A
|
rs1882435
|
0.29027
|
|
NM_015114.3(ANKLE2):c.364C>T (p.His122Tyr)
|
rs1132375
|
0.28969
|
|
NM_201384.3(PLEC):c.2923+37C>T
|
rs11136335
|
0.28946
|
|
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_004568.6(SERPINB6):c.54G>A (p.Thr18=)
|
rs2236277
|
0.28827
|
|
NM_001374623.1(PNPLA1):c.1469C>T (p.Thr490Met)
|
rs12197079
|
0.28772
|
|
NM_001083961.2(WDR62):c.700-18C>T
|
rs10423651
|
0.28763
|
|
NM_000553.6(WRN):c.4083C>T (p.Ser1361=)
|
rs1801196
|
0.28751
|
|
NM_000782.5(CYP24A1):c.1125G>A (p.Pro375=)
|
rs2296239
|
0.28667
|
|
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_022124.6(CDH23):c.6130G>A (p.Glu2044Lys)
|
rs10466026
|
0.28442
|
|
NM_014956.5(CEP164):c.2963C>G (p.Thr988Ser)
|
rs2305830
|
0.28431
|
|
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_206933.4(USH2A):c.1644+34A>C
|
rs7515253
|
0.28314
|
|
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_001111.5(ADAR):c.15+10G>T
|
rs58655370
|
0.27999
|
|
NM_002860.4(ALDH18A1):c.2110+24A>T
|
rs2296691
|
0.27977
|
|
NM_203486.3(DLL3):c.1029C>T (p.Pro343=)
|
rs2304214
|
0.27957
|
|
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_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_014918.5(CHSY1):c.1905G>C (p.Val635=)
|
rs28364839
|
0.27694
|
|
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_018161.5(NADSYN1):c.317+22C>T
|
rs1629220
|
0.27561
|
|
NM_001160372.4(TRAPPC9):c.1134+21A>G
|
rs3779658
|
0.27421
|
|
NM_015261.3(NCAPD3):c.1689+20A>G
|
rs1125399
|
0.27325
|
|
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_000414.4(HSD17B4):c.1993+74G>C
|
rs17145464
|
0.27235
|
|
NM_001384474.1(LOXHD1):c.2048-102A>G
|
rs1824682
|
0.27202
|
|
NM_001366722.1(GRIP1):c.503-15C>A
|
rs11838180
|
0.27190
|
|
NM_001614.5(ACTG1):c.363+58G>A
|
rs9912409
|
0.27171
|
|
NM_022124.6(CDH23):c.1487G>A (p.Ser496Asn)
|
rs10999947
|
0.27136
|
|
NM_018389.5(SLC35C1):c.-3A>G
|
rs3808976
|
0.27016
|
|
NM_000382.3(ALDH3A2):c.153+39C>T
|
rs4646793
|
0.26984
|
|
NM_000382.3(ALDH3A2):c.472-56G>A
|
rs2072332
|
0.26925
|
|
NM_001128431.4(SLC39A14):c.1333-25G>A
|
rs10101909
|
0.26917
|
|
NM_015340.4(LARS2):c.1983G>A (p.Thr661=)
|
rs11549809
|
0.26851
|
|
NM_182961.4(SYNE1):c.130-25C>T
|
rs2141152
|
0.26785
|
|
NM_004618.5(TOP3A):c.1527C>T (p.Asp509=)
|
rs2230154
|
0.26761
|
|
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_000426.4(LAMA2):c.2799A>G (p.Gln933=)
|
rs1027199
|
0.26612
|
|
NM_021942.6(TRAPPC11):c.2851+46G>A
|
rs62358033
|
0.26555
|
|
NM_001378615.1(CC2D2A):c.3595-22C>T
|
rs4280724
|
0.26375
|
|
NM_022124.6(CDH23):c.1987-123G>A
|
rs1227087
|
0.26320
|
|
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_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_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_020632.3(ATP6V0A4):c.1478+17A>G
|
rs6467797
|
0.26043
|
|
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_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_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_020964.3(EPG5):c.4532C>T (p.Ala1511Val)
|
rs1893523
|
0.25513
|
|
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_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_206933.4(USH2A):c.11711+71A>T
|
rs6694510
|
0.25144
|
|
NM_001384474.1(LOXHD1):c.1135-70C>A
|
rs12608365
|
0.25114
|
|
NM_021942.6(TRAPPC11):c.2370C>T (p.Thr790=)
|
rs4862234
|
0.25098
|
|
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_198525.3(KIF7):c.3319-30A>C
|
rs72750748
|
0.24857
|
|
NM_000260.4(MYO7A):c.4442-113A>G
|
rs3781692
|
0.24810
|
|
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_001142633.3(PIK3R5):c.1101G>A (p.Ser367=)
|
rs9915880
|
0.24687
|
|
NM_000492.4(CFTR):c.274-179G>A
|
rs1429566
|
0.24654
|
|
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_001142633.3(PIK3R5):c.2299+13G>A
|
rs9902600
|
0.24618
|
|
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)
|
rs1042602
|
0.24593
|
|
NM_003383.5(VLDLR):c.2416+8G>T
|
rs6145
|
0.24562
|
|
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_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_001367624.2(ZNF469):c.*8G>A
|
rs45504291
|
0.24166
|
|
NM_024649.5(BBS1):c.724-8G>C
|
rs10896125
|
0.24158
|
|
NM_138775.3(ALKBH8):c.1030+9A>G
|
rs12574614
|
0.24106
|
|
NM_000208.4(INSR):c.1610+28A>C
|
rs2860177
|
0.24043
|
|
NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met)
|
rs3731746
|
0.24029
|
|
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_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_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_194248.3(OTOF):c.372A>G (p.Thr124=)
|
rs11687696
|
0.23539
|
|
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_003104.6(SORD):c.806A>C (p.Asn269Thr)
|
rs930337
|
0.23350
|
|
NM_015404.4(WHRN):c.1627-12G>A
|
rs2274160
|
0.23283
|
|
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr)
|
rs1801449
|
0.23274
|
|
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_015028.4(TNIK):c.2316C>T (p.Leu772=)
|
rs2291900
|
0.22910
|
|
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln)
|
rs2238472
|
0.22903
|
|
NM_004560.4(ROR2):c.98-15G>C
|
rs7863557
|
0.22863
|
|
NM_001163809.2(WDR81):c.*56A>G
|
rs2287322
|
0.22860
|
|
NM_001384140.1(PCDH15):c.1138G>A (p.Gly380Ser)
|
rs10825269
|
0.22813
|
|
NM_025074.7(FRAS1):c.7254A>G (p.Lys2418=)
|
rs34840208
|
0.22689
|
|
NM_000360.4(TH):c.313-88G>A
|
rs4930043
|
0.22682
|
|
NM_001160372.4(TRAPPC9):c.1692C>T (p.Asn564=)
|
rs12549048
|
0.22639
|
|
NM_004999.4(MYO6):c.2658+17C>T
|
rs2295936
|
0.22603
|
|
NM_004836.7(EIF2AK3):c.1763+6A>T
|
rs6750998
|
0.22566
|
|
NM_004999.4(MYO6):c.*12C>T
|
rs12606
|
0.22544
|
|
NM_080680.3(COL11A2):c.3384C>T (p.Pro1128=)
|
rs1799911
|
0.22509
|
|
NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg)
|
rs1346044
|
0.22492
|
|
NM_020066.5(FMN2):c.1830A>G (p.Ser610=)
|
rs3765588
|
0.22473
|
|
NM_001267550.2(TTN):c.18029-19G>C
|
rs17076
|
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_015272.5(RPGRIP1L):c.1401+127A>G
|
rs7192060
|
0.22379
|
|
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_001384140.1(PCDH15):c.2220+47T>C
|
rs3812657
|
0.22115
|
|
NM_153700.2(STRC):c.3893A>G (p.His1298Arg)
|
rs2920780
|
0.22075
|
|
NM_000211.5(ITGB2):c.819G>A (p.Gly273=)
|
rs2230528
|
0.21986
|
|
NM_004618.5(TOP3A):c.916-49G>A
|
rs2294913
|
0.21931
|
|
NM_001163809.2(WDR81):c.2739G>A (p.Leu913=)
|
rs9912287
|
0.21861
|
|
NM_014363.6(SACS):c.6195T>C (p.Ile2065=)
|
rs4143768
|
0.21785
|
|
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_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_001163809.2(WDR81):c.5640C>T (p.Ser1880=)
|
rs8077638
|
0.21643
|
|
NM_014053.4(FLVCR1):c.1593+9T>C
|
rs17019870
|
0.21623
|
|
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_001081.4(CUBN):c.939C>T (p.Asn313=)
|
rs1801223
|
0.21191
|
|
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_153676.4(USH1C):c.2340C>T (p.Val780=)
|
rs10832796
|
0.21080
|
|
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_000243.3(MEFV):c.605G>A (p.Arg202Gln)
|
rs224222
|
0.20976
|
|
NM_002454.3(MTRR):c.1049A>G (p.Lys350Arg)
|
rs162036
|
0.20973
|
|
NM_000492.4(CFTR):c.1767-136T>C
|
rs11978434
|
0.20764
|
|
NM_000092.5(COL4A4):c.657+62G>A
|
rs59938187
|
0.20743
|
|
NM_003104.6(SORD):c.908+11C>T
|
rs28495265
|
0.20727
|
|
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_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_021116.4(ADCY1):c.3090G>A (p.Arg1030=)
|
rs2293106
|
0.20517
|
|
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_001146079.2(CLDN14):c.687G>A (p.Thr229=)
|
rs219780
|
0.20318
|
|
NM_006014.5(LAGE3):c.*19G>C
|
rs6567
|
0.20303
|
|
NM_001384140.1(PCDH15):c.319-31T>C
|
rs11594958
|
0.20278
|
|
NM_032119.4(ADGRV1):c.8538T>G (p.Leu2846=)
|
rs6880570
|
0.20255
|
|
NM_139343.3(BIN1):c.858-12C>A
|
rs6720741
|
0.20254
|
|
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_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_022124.6(CDH23):c.5100C>T (p.Tyr1700=)
|
rs10762480
|
0.19882
|
|
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_003052.5(SLC34A1):c.389-20C>T
|
rs3812036
|
0.19698
|
|
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_015404.4(WHRN):c.1318G>A (p.Ala440Thr)
|
rs4978584
|
0.19569
|
|
NM_015404.4(WHRN):c.1416+22A>T
|
rs4979386
|
0.19539
|
|
NM_000260.4(MYO7A):c.133-88C>T
|
rs12279716
|
0.19502
|
|
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.*421T>C
|
rs760274
|
0.19404
|
|
NM_004937.3(CTNS):c.*410A>G
|
rs3826496
|
0.19387
|
|
NM_000382.3(ALDH3A2):c.940+53C>G
|
rs1800869
|
0.19359
|
|
NM_020921.4(NIN):c.1974T>C (p.His658=)
|
rs4901055
|
0.19347
|
|
NM_001171.6(ABCC6):c.3633+90G>A
|
rs2376957
|
0.19271
|
|
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_000391.4(TPP1):c.1542A>T (p.Gly514=)
|
rs1128396
|
0.19057
|
|
NM_017721.5(CC2D1A):c.2402C>T (p.Thr801Met)
|
rs2305777
|
0.19038
|
|
NM_001130987.2(DYSF):c.3086-17G>A
|
rs3764971
|
0.18932
|
|
NM_015311.3(OBSL1):c.2055C>A (p.Ala685=)
|
rs1043537
|
0.18910
|
|
NM_015311.3(OBSL1):c.1818C>T (p.Phe606=)
|
rs61732787
|
0.18850
|
|
NM_020631.6(PLEKHG5):c.1681-20T>C
|
rs2986753
|
0.18735
|
|
NM_000391.4(TPP1):c.1075+42C>T
|
rs2072651
|
0.18683
|
|
NM_002473.6(MYH9):c.1728+37_1728+44del
|
rs3842715
|
0.18442
|
|
NM_001009994.3(RIPPLY2):c.96-4G>A
|
rs2298290
|
0.18347
|
|
NM_001039141.3(TRIOBP):c.-14C>G
|
rs12484441
|
0.18268
|
|
NM_003383.5(VLDLR):c.1066+43C>T
|
rs10967320
|
0.18162
|
|
NM_005529.7(HSPG2):c.11352+25C>A
|
rs2270701
|
0.18117
|
|
NM_006019.4(TCIRG1):c.1020+152G>T
|
rs72926459
|
0.18098
|
|
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)
|
rs1126809
|
0.18094
|
|
NM_002894.3(RBBP8):c.2115G>A (p.Lys705=)
|
rs17852769
|
0.18089
|
|
NM_001127453.2(GSDME):c.405-15G>A
|
rs754553
|
0.18061
|
|
NM_024649.5(BBS1):c.1413C>T (p.Leu471=)
|
rs3816492
|
0.17957
|
|
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
|
|
NM_015261.3(NCAPD3):c.1090-33A>G
|
rs10791349
|
0.17800
|
|
NM_032119.4(ADGRV1):c.2735-34C>G
|
rs16868901
|
0.17765
|
|
NM_032119.4(ADGRV1):c.2241-19G>T
|
rs1344030
|
0.17743
|
|
NM_001171.6(ABCC6):c.2490C>T (p.Ala830=)
|
rs9924755
|
0.17690
|
|
NM_001692.4(ATP6V1B1):c.138C>T (p.Ser46=)
|
rs2266918
|
0.17658
|
|
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp)
|
rs2228528
|
0.17598
|
|
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
|
|
NM_015102.5(NPHP4):c.1441+13A>G
|
rs7520105
|
0.17476
|
|
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_002473.6(MYH9):c.4876A>G (p.Ile1626Val)
|
rs2269529
|
0.17342
|
|
NM_001127453.2(GSDME):c.489G>A (p.Thr163=)
|
rs754555
|
0.17320
|
|
NM_001098484.3(SLC4A4):c.2443-38G>A
|
rs3733362
|
0.17313
|
|
NM_002473.6(MYH9):c.4872G>T (p.Ala1624=)
|
rs2269530
|
0.17309
|
|
NM_206933.4(USH2A):c.11946G>A (p.Leu3982=)
|
rs2820718
|
0.17214
|
|
NM_022124.6(CDH23):c.3370-46T>C
|
rs3802712
|
0.17108
|
|
NM_018669.6(WDR4):c.567-16T>C
|
rs7278765
|
0.17080
|
|
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_206933.4(USH2A):c.5013C>A (p.Gly1671=)
|
rs56110889
|
0.16907
|
|
NM_004700.4(KCNQ4):c.1365T>G (p.His455Gln)
|
rs34287852
|
0.16898
|
|
NM_000019.4(ACAT1):c.471C>A (p.Ser157=)
|
rs35188041
|
0.16806
|
|
NM_001267550.2(TTN):c.8902+14del
|
rs573000455
|
0.16798
|
|
NM_006996.3(SLC19A2):c.-4C>T
|
rs2072757
|
0.16749
|
|
NM_001267550.2(TTN):c.8902+16del
|
rs570467105
|
0.16737
|
|
NM_000057.4(BLM):c.3358+32T>G
|
rs17273842
|
0.16733
|
|
NM_001081.4(CUBN):c.9030T>C (p.Ala3010=)
|
rs1801241
|
0.16648
|
|
NM_001692.4(ATP6V1B1):c.89C>T (p.Thr30Ile)
|
rs17720303
|
0.16644
|
|
NM_153676.4(USH1C):c.1414-34G>A
|
rs2237964
|
0.16591
|
|
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_004525.3(LRP2):c.5859A>G (p.Arg1953=)
|
rs11886219
|
0.16510
|
|
NM_001267550.2(TTN):c.98098+9T>A
|
rs2288325
|
0.16490
|
|
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_020247.5(COQ8A):c.117G>A (p.Ala39=)
|
rs11549708
|
0.16388
|
|
NM_018136.5(ASPM):c.2174-20T>C
|
rs4915344
|
0.16253
|
|
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_000092.5(COL4A4):c.1987+91T>C
|
rs7597336
|
0.16109
|
|
NM_006736.6(DNAJB2):c.230-10G>A
|
rs3731897
|
0.16060
|
|
NM_001079866.2(BCS1L):c.1017T>C (p.Pro339=)
|
rs35843327
|
0.15996
|
|
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_000329.3(RPE65):c.1056G>A (p.Glu352=)
|
rs12145904
|
0.15903
|
|
NM_001267550.2(TTN):c.24431A>C (p.Glu8144Ala)
|
rs16866465
|
0.15861
|
|
NM_000391.4(TPP1):c.1426-78T>C
|
rs1800723
|
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_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_000057.4(BLM):c.3531C>A (p.Ala1177=)
|
rs2227934
|
0.15517
|
|
NM_000083.3(CLCN1):c.301+27T>A
|
rs6948526
|
0.15429
|
|
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_004700.4(KCNQ4):c.315-16C>T
|
rs13374845
|
0.15351
|
|
NM_001013838.3(CARMIL2):c.1440-8T>C
|
rs9972635
|
0.15291
|
|
NM_001034852.3(SMOC1):c.858-19C>A
|
rs57609901
|
0.15288
|
|
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_022124.6(CDH23):c.9077+8G>A
|
rs11818398
|
0.15161
|
|
NM_002796.3(PSMB4):c.701T>C (p.Ile234Thr)
|
rs4603
|
0.15159
|
|
NM_003383.5(VLDLR):c.1187-3C>T
|
rs11789583
|
0.15129
|
|
NM_022124.6(CDH23):c.3009T>C (p.Ser1003=)
|
rs10823829
|
0.15109
|
|
NM_001130987.2(DYSF):c.1276+11C>T
|
rs35982795
|
0.15096
|
|
NM_000543.5(SMPD1):c.636T>C (p.Asp212=)
|
rs7951904
|
0.15081
|
|
NM_206933.4(USH2A):c.13191G>A (p.Glu4397=)
|
rs2009923
|
0.15011
|
|
NM_000023.4(SGCA):c.313-39C>A
|
rs59944537
|
0.14899
|
|
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_005529.7(HSPG2):c.12992G>A (p.Ser4331Asn)
|
rs3736360
|
0.14722
|
|
NM_032119.4(ADGRV1):c.9743G>A (p.Gly3248Asp)
|
rs16869032
|
0.14695
|
|
NM_001384474.1(LOXHD1):c.-102G>A
|
rs34951935
|
0.14627
|
|
NM_022124.6(CDH23):c.5503-10A>G
|
rs2394839
|
0.14568
|
|
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_001077365.2(POMT1):c.1082+16G>A
|
rs59515295
|
0.14451
|
|
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His)
|
rs3731749
|
0.14445
|
|
NM_001283009.2(RTEL1):c.1636+29C>G
|
rs2777940
|
0.14402
|
|
NM_001130987.2(DYSF):c.396C>T (p.Pro132=)
|
rs34603128
|
0.14353
|
|
NM_013382.7(POMT2):c.1654-6A>G
|
rs4540995
|
0.14330
|
|
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser)
|
rs111775292
|
0.14328
|
|
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_022124.6(CDH23):c.1449+130T>C
|
rs2305209
|
0.14152
|
|
NM_022124.6(CDH23):c.5411G>A (p.Arg1804Gln)
|
rs3802711
|
0.14136
|
|
NM_012233.3(RAB3GAP1):c.1793A>G (p.Asn598Ser)
|
rs10445686
|
0.14088
|
|
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_022124.6(CDH23):c.4846-79G>A
|
rs41281328
|
0.13922
|
|
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_001378454.1(ALMS1):c.6212T>C (p.Ile2071Thr)
|
rs10496192
|
0.13807
|
|
NM_002161.6(IARS1):c.3544A>G (p.Lys1182Glu)
|
rs556155
|
0.13769
|
|
NM_000091.5(COL4A3):c.1576-60G>A
|
rs73993878
|
0.13711
|
|
NM_001378615.1(CC2D2A):c.2182-24C>T
|
rs2041673
|
0.13698
|
|
NM_005879.3(TRAIP):c.1362A>C (p.Thr454=)
|
rs35129566
|
0.13635
|
|
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_005529.7(HSPG2):c.10831-4G>A
|
rs17459139
|
0.13467
|
|
NM_001081.4(CUBN):c.4970-22A>C
|
rs74668791
|
0.13460
|
|
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_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_001267550.2(TTN):c.103781G>A (p.Arg34594His)
|
rs3829747
|
0.13294
|
|
NM_001039958.2(MESP2):c.573G>A (p.Gly191=)
|
rs113097169
|
0.13255
|
|
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys)
|
rs744426
|
0.13213
|
|
NM_139343.3(BIN1):c.-27C>T
|
rs11554586
|
0.13209
|
|
NM_000271.5(NPC1):c.387T>C (p.Tyr129=)
|
rs12970899
|
0.13133
|
|
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_001378454.1(ALMS1):c.8017G>C (p.Asp2673His)
|
rs2017116
|
0.13007
|
|
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_022124.6(CDH23):c.3431-205A>C
|
rs12240855
|
0.12869
|
|
NM_022124.6(CDH23):c.3431-133T>C
|
rs12263420
|
0.12860
|
|
NM_001184.4(ATR):c.7274G>A (p.Arg2425Gln)
|
rs2229032
|
0.12815
|
|
NM_005529.7(HSPG2):c.9766C>T (p.His3256Tyr)
|
rs2291827
|
0.12760
|
|
NM_052989.3(IFT122):c.1654-12C>T
|
rs112066509
|
0.12634
|
|
NM_206933.4(USH2A):c.11389+9A>T
|
rs12095085
|
0.12571
|
|
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_000180.4(GUCY2D):c.2576+37G>T
|
rs12103471
|
0.12387
|
|
NM_000466.3(PEX1):c.-137T>C
|
rs12386601
|
0.12381
|
|
NM_000070.3(CAPN3):c.633-69G>A
|
rs4924675
|
0.12331
|
|
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_001077365.2(POMT1):c.699+52C>T
|
rs3887873
|
0.12205
|
|
NM_015046.7(SETX):c.1979C>G (p.Ala660Gly)
|
rs882709
|
0.12168
|
|
NM_001013838.3(CARMIL2):c.688-32C>T
|
rs59376497
|
0.11931
|
|
NM_000260.4(MYO7A):c.736-47C>A
|
rs3737454
|
0.11805
|
|
NM_001130987.2(DYSF):c.760-17C>T
|
rs61104194
|
0.11792
|
|
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_015102.5(NPHP4):c.2485+38C>T
|
rs41280814
|
0.11752
|
|
NM_015102.5(NPHP4):c.1926G>A (p.Glu642=)
|
rs12120967
|
0.11732
|
|
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_001267550.2(TTN):c.14525G>A (p.Arg4842Lys)
|
rs2742347
|
0.11354
|
|
NM_000091.5(COL4A3):c.889-39T>C
|
rs28470865
|
0.11238
|
|
NM_022124.6(CDH23):c.8895C>T (p.Pro2965=)
|
rs11000009
|
0.10990
|
|
NM_000317.3(PTS):c.163+14T>C
|
rs3819331
|
0.10984
|
|
NM_001367624.2(ZNF469):c.6462G>A (p.Pro2154=)
|
rs61472141
|
0.10977
|
|
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_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser)
|
rs2111119
|
0.10881
|
|
NM_022124.6(CDH23):c.9319+11G>A
|
rs11000013
|
0.10868
|
|
NM_153676.4(USH1C):c.2381-46G>A
|
rs2072233
|
0.10738
|
|
NM_005529.7(HSPG2):c.8983A>G (p.Ser2995Gly)
|
rs2229491
|
0.10503
|
|
NM_000543.5(SMPD1):c.1487-36C>T
|
rs11601088
|
0.10436
|
|
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_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_000271.5(NPC1):c.3797G>A (p.Arg1266Gln)
|
rs1805084
|
0.10225
|
|
NM_002860.4(ALDH18A1):c.896C>T (p.Thr299Ile)
|
rs2275272
|
0.10214
|
|
NM_020779.4(WDR35):c.3121+12A>C
|
rs28502265
|
0.10214
|
|
NM_000091.5(COL4A3):c.987+35T>G
|
rs10933172
|
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_206933.4(USH2A):c.4994T>C (p.Ile1665Thr)
|
rs56222536
|
0.10108
|
|
NM_001017420.3(ESCO2):c.239C>T (p.Ala80Val)
|
rs4732748
|
0.10090
|
|
NM_000091.5(COL4A3):c.468+139C>T
|
rs12612699
|
0.10086
|
|
NM_001283009.2(RTEL1):c.3499+5G>T
|
rs41309931
|
0.10067
|
|
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_001146262.4(SYT14):c.1419T>C (p.Tyr473=)
|
rs17188183
|
0.09972
|
|
NM_213599.3(ANO5):c.*1521T>C
|
rs73483433
|
0.09970
|
|
NM_001267550.2(TTN):c.9597A>G (p.Glu3199=)
|
rs2291312
|
0.09947
|
|
NM_015028.4(TNIK):c.2682C>T (p.Ser894=)
|
rs16855789
|
0.09929
|
|
NM_000337.6(SGCD):c.*4092A>G
|
rs56389540
|
0.09897
|
|
NM_000124.4(ERCC6):c.411G>A (p.Leu137=)
|
rs4253013
|
0.09896
|
|
NM_153676.4(USH1C):c.37-47G>T
|
rs2355022
|
0.09867
|
|
NM_153676.4(USH1C):c.2226+197G>A
|
rs12270644
|
0.09831
|
|
NM_001267550.2(TTN):c.68217T>C (p.His22739=)
|
rs10497517
|
0.09829
|
|
NM_213599.3(ANO5):c.*1313A>G
|
rs73483432
|
0.09785
|
|
NM_206933.4(USH2A):c.6957+19A>G
|
rs6689120
|
0.09761
|
|
NM_153676.4(USH1C):c.521+56A>G
|
rs41282940
|
0.09720
|
|
NM_022095.4(ZNF335):c.3384T>C (p.Pro1128=)
|
rs3746503
|
0.09613
|
|
NM_022095.4(ZNF335):c.1355+13G>A
|
rs3746511
|
0.09610
|
|
NM_001384474.1(LOXHD1):c.2473G>A (p.Val825Met)
|
rs36086089
|
0.09592
|
|
NM_001384140.1(PCDH15):c.157+3A>G
|
rs41274636
|
0.09581
|
|
NM_000070.3(CAPN3):c.96T>C (p.Thr32=)
|
rs1801496
|
0.09551
|
|
NM_001367624.2(ZNF469):c.1489G>A (p.Gly497Arg)
|
rs28723506
|
0.09509
|
|
NM_000260.4(MYO7A):c.1004-35C>G
|
rs2071151
|
0.09483
|
|
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_015046.7(SETX):c.*2262A>G
|
rs997784
|
0.09345
|
|
NM_025103.4(IFT74):c.254A>G (p.Lys85Arg)
|
rs11555693
|
0.09345
|
|
NM_015046.7(SETX):c.6935+8T>C
|
rs17148873
|
0.09319
|
|
NM_001267550.2(TTN):c.7545C>T (p.Tyr2515=)
|
rs2291306
|
0.09235
|
|
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_000211.5(ITGB2):c.58+12G>A
|
rs2280965
|
0.09186
|
|
NM_001267550.2(TTN):c.75522A>C (p.Ala25174=)
|
rs6732060
|
0.09129
|
|
NM_153676.4(USH1C):c.1086-12G>A
|
rs11024318
|
0.09048
|
|
NM_002160.4(TNC):c.4575G>A (p.Thr1525=)
|
rs17819466
|
0.09039
|
|
NM_001267550.2(TTN):c.24516C>T (p.Thr8172=)
|
rs72648978
|
0.08958
|
|
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_000271.5(NPC1):c.-22A>C
|
rs2303880
|
0.08768
|
|
NM_000391.4(TPP1):c.687+32T>C
|
rs1800710
|
0.08743
|
|
NM_004525.3(LRP2):c.8453-11T>C
|
rs11898106
|
0.08732
|
|
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=)
|
rs2290021
|
0.08719
|
|
NM_016038.4(SBDS):c.201A>G (p.Lys67=)
|
rs1061695
|
0.08712
|
|
NM_000337.6(SGCD):c.*3650G>T
|
rs72803044
|
0.08674
|
|
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_014363.6(SACS):c.1656A>G (p.Leu552=)
|
rs1536365
|
0.08543
|
|
NM_000426.4(LAMA2):c.156C>T (p.Ile52=)
|
rs1140366
|
0.08370
|
|
NM_001145026.2(PTPRQ):c.5943-6T>C
|
rs1528289
|
0.08370
|
|
NM_001267550.2(TTN):c.29153T>C (p.Ile9718Thr)
|
rs4893852
|
0.08349
|
|
NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly)
|
rs3739927
|
0.08329
|
|
NM_022124.6(CDH23):c.-1C>T
|
rs41281302
|
0.08269
|
|
NM_017777.4(MKS1):c.1024+128C>T
|
rs72839966
|
0.08242
|
|
NM_000337.6(SGCD):c.*3962G>A
|
rs56182215
|
0.08205
|
|
NM_000337.6(SGCD):c.*3687A>G
|
rs72803046
|
0.08194
|
|
NM_001267550.2(TTN):c.96158T>C (p.Ile32053Thr)
|
rs62621236
|
0.08189
|
|
NM_001367624.2(ZNF469):c.*46C>A
|
rs78600508
|
0.08121
|
|
NM_000057.4(BLM):c.3961G>A (p.Val1321Ile)
|
rs7167216
|
0.08093
|
|
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg)
|
rs11677877
|
0.08050
|
|
NM_017433.5(MYO3A):c.624C>T (p.Asp208=)
|
rs35010955
|
0.08016
|
|
NM_022124.6(CDH23):c.7225-22C>T
|
rs3802708
|
0.07941
|
|
NM_000553.6(WRN):c.1577-3C>A
|
rs3087409
|
0.07869
|
|
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_000466.3(PEX1):c.1804-28G>A
|
rs10236856
|
0.07802
|
|
NM_000466.3(PEX1):c.-53C>G
|
rs12386703
|
0.07798
|
|
NM_000553.6(WRN):c.340G>A (p.Val114Ile)
|
rs2230009
|
0.07797
|
|
NM_001267550.2(TTN):c.25921+10C>T
|
rs10183237
|
0.07769
|
|
NM_206933.4(USH2A):c.7506G>A (p.Pro2502=)
|
rs12404427
|
0.07727
|
|
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_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_000492.4(CFTR):c.869+11C>T
|
rs1800503
|
0.07590
|
|
NM_004766.3(COPB2):c.2626-20C>A
|
rs2307031
|
0.07557
|
|
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_052989.3(IFT122):c.2060G>A (p.Arg687Gln)
|
rs61740161
|
0.07498
|
|
NM_206933.4(USH2A):c.11390-53C>T
|
rs6540907
|
0.07479
|
|
NM_000091.5(COL4A3):c.1452G>A (p.Gly484=)
|
rs34019152
|
0.07474
|
|
NM_020779.4(WDR35):c.53A>G (p.Gln18Arg)
|
rs1060742
|
0.07465
|
|
NM_001384140.1(PCDH15):c.2752-75C>G
|
rs2253647
|
0.07354
|
|
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val)
|
rs35830695
|
0.07353
|
|
NM_016373.4(WWOX):c.844C>G (p.Pro282Ala)
|
rs3764340
|
0.07330
|
|
NM_001384140.1(PCDH15):c.1591-68G>A
|
rs41274632
|
0.07262
|
|
NM_000091.5(COL4A3):c.888+30G>A
|
rs35467545
|
0.07260
|
|
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_001267550.2(TTN):c.42783A>G (p.Lys14261=)
|
rs16866425
|
0.07162
|
|
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_015046.7(SETX):c.6546+32T>A
|
rs2296873
|
0.07069
|
|
NM_001384474.1(LOXHD1):c.5399+13G>A
|
rs59128481
|
0.07068
|
|
NM_001384474.1(LOXHD1):c.4740+21G>A
|
rs12604163
|
0.06997
|
|
NM_001384474.1(LOXHD1):c.4868A>G (p.Glu1623Gly)
|
rs12606417
|
0.06993
|
|
NM_000091.5(COL4A3):c.1223G>A (p.Arg408His)
|
rs34505188
|
0.06909
|
|
NM_001171.6(ABCC6):c.793A>G (p.Arg265Gly)
|
rs72657698
|
0.06836
|
|
NM_017433.5(MYO3A):c.660C>T (p.Ala220=)
|
rs34067308
|
0.06790
|
|
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_017433.5(MYO3A):c.586-29C>T
|
rs56077277
|
0.06743
|
|
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu)
|
rs2227935
|
0.06742
|
|
NM_017777.4(MKS1):c.191-44G>A
|
rs73329636
|
0.06658
|
|
NM_001267550.2(TTN):c.29763T>C (p.Ile9921=)
|
rs2742343
|
0.06625
|
|
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_001145026.2(PTPRQ):c.6115+23_6115+24dup
|
rs10652830
|
0.06545
|
|
NM_206933.4(USH2A):c.11231+45C>T
|
rs17025373
|
0.06476
|
|
NM_000337.6(SGCD):c.*7300C>A
|
rs72803048
|
0.06455
|
|
NM_213599.3(ANO5):c.879-18T>C
|
rs7104758
|
0.06440
|
|
NM_001283009.2(RTEL1):c.2112C>T (p.Asp704=)
|
rs61753459
|
0.06433
|
|
NM_000091.5(COL4A3):c.1576-15T>G
|
rs56243460
|
0.06412
|
|
NM_000337.5(SGCD):c.-303A>T
|
rs7725121
|
0.06375
|
|
NM_017777.4(MKS1):c.1671G>C (p.Leu557=)
|
rs11548967
|
0.06374
|
|
NM_000091.5(COL4A3):c.2021-54T>C
|
rs55643512
|
0.06366
|
|
NM_000091.5(COL4A3):c.280-40T>G
|
rs11386485
|
0.06240
|
|
NM_017433.5(MYO3A):c.2497G>T (p.Ala833Ser)
|
rs33947968
|
0.06209
|
|
NM_000091.5(COL4A3):c.687+103T>A
|
rs55997063
|
0.06185
|
|
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg)
|
rs696723
|
0.06184
|
|
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_001081.4(CUBN):c.618C>T (p.Tyr206=)
|
rs41289313
|
0.06126
|
|
NM_001267550.2(TTN):c.38753T>C (p.Leu12918Ser)
|
rs2562847
|
0.06111
|
|
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_000553.6(WRN):c.1161G>A (p.Met387Ile)
|
rs1800391
|
0.06046
|
|
NM_001267550.2(TTN):c.71993G>A (p.Arg23998His)
|
rs10164753
|
0.06031
|
|
NM_001367624.2(ZNF469):c.3516T>C (p.Arg1172=)
|
rs111557381
|
0.06017
|
|
NM_001267550.2(TTN):c.29042-16G>A
|
rs10203085
|
0.05999
|
|
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_025103.4(IFT74):c.165A>G (p.Ile55Met)
|
rs10812505
|
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_001267550.2(TTN):c.22080T>C (p.Asp7360=)
|
rs16866473
|
0.05854
|
|
NM_001267550.2(TTN):c.79062T>A (p.Gly26354=)
|
rs3731744
|
0.05786
|
|
NM_018075.5(ANO10):c.1066A>G (p.Ser356Gly)
|
rs56389778
|
0.05750
|
|
NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser)
|
rs4894048
|
0.05739
|
|
NM_001267550.2(TTN):c.107267T>C (p.Val35756Ala)
|
rs16866378
|
0.05725
|
|
NM_005529.7(HSPG2):c.825G>A (p.Leu275=)
|
rs41307868
|
0.05694
|
|
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_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_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_001384474.1(LOXHD1):c.5878+60A>G
|
rs60852510
|
0.05517
|
|
NM_015602.4(TOR1AIP1):c.879A>C (p.Gln293His)
|
rs17279712
|
0.05445
|
|
NM_206933.4(USH2A):c.9595A>G (p.Asn3199Asp)
|
rs4129843
|
0.05402
|
|
NM_006012.4(CLPP):c.-5G>A
|
rs75589928
|
0.05394
|
|
NM_001384140.1(PCDH15):c.2868+69G>A
|
rs11003980
|
0.05390
|
|
NM_004525.3(LRP2):c.769+18T>C
|
rs62171262
|
0.05350
|
|
NM_015602.4(TOR1AIP1):c.964+17A>G
|
rs17370826
|
0.05277
|
|
NM_153676.4(USH1C):c.2226+12C>T
|
rs17703528
|
0.05274
|
|
NM_005529.7(HSPG2):c.5575+32T>C
|
rs200354565
|
0.05248
|
|
NM_001379286.1(ZNF423):c.1569T>C (p.Asn523=)
|
rs13336762
|
0.05236
|
|
NM_206933.4(USH2A):c.652-80T>C
|
rs45594833
|
0.05185
|
|
NM_002617.4(PEX10):c.279C>T (p.Gly93=)
|
rs1143016
|
0.05120
|
|
NM_001267550.2(TTN):c.3087T>C (p.Tyr1029=)
|
rs55863869
|
0.05117
|
|
NM_206933.4(USH2A):c.4627+145T>G
|
rs55761862
|
0.05087
|
|
NM_001267550.2(TTN):c.29799G>A (p.Ser9933=)
|
rs2742344
|
0.05063
|
|
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_001171.6(ABCC6):c.3507-16T>C
|
rs3213471
|
0.04995
|
|
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr)
|
rs61747071
|
0.04969
|
|
NM_012414.4(RAB3GAP2):c.1041-18A>C
|
rs73098579
|
0.04963
|
|
NM_020066.5(FMN2):c.3216G>A (p.Ala1072=)
|
rs71646895
|
0.04951
|
|
NM_206933.4(USH2A):c.1931A>T (p.Asp644Val)
|
rs1805048
|
0.04940
|
|
NM_015272.5(RPGRIP1L):c.530-29G>A
|
rs74393433
|
0.04932
|
|
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_001267550.2(TTN):c.13218C>T (p.Ala4406=)
|
rs1883084
|
0.04879
|
|
NM_005529.7(HSPG2):c.5575+31C>A
|
rs12757277
|
0.04871
|
|
NM_012414.4(RAB3GAP2):c.3868-31C>G
|
rs12032738
|
0.04866
|
|
NM_018075.5(ANO10):c.1682C>T (p.Thr561Met)
|
rs17409162
|
0.04859
|
|
NM_001267550.2(TTN):c.13594A>C (p.Thr4532Pro)
|
rs2562829
|
0.04828
|
|
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_001267550.2(TTN):c.4715G>A (p.Arg1572Gln)
|
rs12476289
|
0.04792
|
|
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe)
|
rs41277200
|
0.04760
|
|
NM_206933.4(USH2A):c.8681+120G>A
|
rs56301415
|
0.04758
|
|
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_015046.7(SETX):c.3455T>G (p.Phe1152Cys)
|
rs3739922
|
0.04708
|
|
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn)
|
rs3213758
|
0.04663
|
|
NM_000023.4(SGCA):c.37+23G>A
|
rs79410682
|
0.04614
|
|
NM_001267550.2(TTN):c.88272G>A (p.Glu29424=)
|
rs9808036
|
0.04549
|
|
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_206933.4(USH2A):c.15522T>C (p.Tyr5174=)
|
rs77792891
|
0.04524
|
|
NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe)
|
rs16841081
|
0.04499
|
|
NM_206933.4(USH2A):c.11736G>A (p.Glu3912=)
|
rs56053654
|
0.04404
|
|
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_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_001130987.2(DYSF):c.1807-24C>G
|
rs2303595
|
0.04339
|
|
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln)
|
rs45559835
|
0.04292
|
|
NM_000288.4(PEX7):c.803+105A>C
|
rs72985582
|
0.04283
|
|
NM_005529.7(HSPG2):c.10918G>A (p.Val3640Ile)
|
rs17459097
|
0.04258
|
|
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile)
|
rs4740164
|
0.04243
|
|
NM_001083961.2(WDR62):c.180G>A (p.Val60=)
|
rs61742664
|
0.04216
|
|
NM_001614.5(ACTG1):c.1026T>C (p.Gly342=)
|
rs1139406
|
0.04214
|
|
NM_006019.4(TCIRG1):c.166C>T (p.Arg56Trp)
|
rs36027301
|
0.04199
|
|
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_018136.5(ASPM):c.1977T>C (p.Ile659=)
|
rs17550662
|
0.04184
|
|
NM_206933.4(USH2A):c.9296A>G (p.Asn3099Ser)
|
rs41277194
|
0.04165
|
|
NM_213599.3(ANO5):c.*3121A>G
|
rs35827261
|
0.04156
|
|
NM_001367624.2(ZNF469):c.1143C>A (p.Pro381=)
|
rs74032864
|
0.04134
|
|
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_206933.4(USH2A):c.7300+43C>T
|
rs41277206
|
0.04068
|
|
NM_206933.4(USH2A):c.6587G>C (p.Ser2196Thr)
|
rs79444516
|
0.04057
|
|
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu)
|
rs45583140
|
0.04021
|
|
NM_001127671.2(LIFR):c.143-60A>G
|
rs62355821
|
0.04013
|
|
NM_022095.4(ZNF335):c.2595C>A (p.Asp865Glu)
|
rs41280276
|
0.04003
|
|
NM_015046.7(SETX):c.*1700G>T
|
rs75682594
|
0.03993
|
|
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_000260.4(MYO7A):c.4441+195G>A
|
rs4945157
|
0.03958
|
|
NM_001267550.2(TTN):c.49731T>C (p.His16577=)
|
rs2115558
|
0.03943
|
|
NM_001127671.2(LIFR):c.346C>T (p.His116Tyr)
|
rs3729734
|
0.03927
|
|
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val)
|
rs3731752
|
0.03923
|
|
NM_000317.3(PTS):c.405T>C (p.Thr135=)
|
rs59731976
|
0.03898
|
|
NM_022095.4(ZNF335):c.2703C>T (p.Ser901=)
|
rs3746504
|
0.03894
|
|
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_005529.7(HSPG2):c.7806C>A (p.Val2602=)
|
rs12737091
|
0.03827
|
|
NM_005529.7(HSPG2):c.5899G>A (p.Val1967Ile)
|
rs2229475
|
0.03821
|
|
NM_005529.7(HSPG2):c.6402G>A (p.Val2134=)
|
rs12742444
|
0.03814
|
|
NM_031885.5(BBS2):c.718-34G>A
|
rs79900021
|
0.03789
|
|
NM_001267550.2(TTN):c.100579G>A (p.Val33527Ile)
|
rs2278196
|
0.03742
|
|
NM_016373.4(WWOX):c.646C>G (p.Leu216Val)
|
rs7201683
|
0.03724
|
|
NM_004700.4(KCNQ4):c.841T>C (p.Leu281=)
|
rs55737429
|
0.03713
|
|
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln)
|
rs56181447
|
0.03706
|
|
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val)
|
rs16866412
|
0.03700
|
|
NM_000070.3(CAPN3):c.1746-64C>T
|
rs17764849
|
0.03691
|
|
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys)
|
rs73038324
|
0.03639
|
|
NM_022095.4(ZNF335):c.1623C>T (p.His541=)
|
rs16990964
|
0.03634
|
|
NM_022095.4(ZNF335):c.2253+10G>T
|
rs6130977
|
0.03629
|
|
NM_001267550.2(TTN):c.48996G>A (p.Glu16332=)
|
rs72677244
|
0.03561
|
|
NM_001267550.2(TTN):c.69145A>G (p.Ile23049Val)
|
rs72646881
|
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_001267550.2(TTN):c.93901G>A (p.Val31301Ile)
|
rs67665715
|
0.03523
|
|
NM_001083961.2(WDR62):c.4123G>A (p.Gly1375Ser)
|
rs17851503
|
0.03516
|
|
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_001267550.2(TTN):c.37705G>A (p.Val12569Ile)
|
rs568086259
|
0.03479
|
|
NM_001267550.2(TTN):c.4177A>G (p.Ile1393Val)
|
rs16866531
|
0.03468
|
|
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp)
|
rs56308529
|
0.03418
|
|
NM_001184.4(ATR):c.3725+18A>G
|
rs73864554
|
0.03416
|
|
NM_000466.3(PEX1):c.473-18G>A
|
rs2066743
|
0.03344
|
|
NM_001083961.2(WDR62):c.562-13C>T
|
rs78138007
|
0.03315
|
|
NM_001083961.2(WDR62):c.3401T>G (p.Met1134Arg)
|
rs61741470
|
0.03313
|
|
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=)
|
rs35721373
|
0.03282
|
|
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_206933.4(USH2A):c.4627+699C>A
|
rs59704861
|
0.03223
|
|
NM_004700.4(KCNQ4):c.1657C>T (p.Leu553=)
|
rs55925184
|
0.03211
|
|
NM_001267550.2(TTN):c.65575+19T>G
|
rs72646865
|
0.03204
|
|
NM_206933.4(USH2A):c.8624G>A (p.Arg2875Gln)
|
rs12118814
|
0.03107
|
|
NM_000329.3(RPE65):c.1338+20A>C
|
rs12564647
|
0.03055
|
|
NM_000329.3(RPE65):c.643+22C>T
|
rs2274321
|
0.03055
|
|
NM_001083961.2(WDR62):c.3639C>T (p.Ser1213=)
|
rs45470992
|
0.03038
|
|
NM_206933.4(USH2A):c.10836C>A (p.Val3612=)
|
rs61276761
|
0.02977
|
|
NM_001013838.3(CARMIL2):c.4195+39C>T
|
rs117444844
|
0.02956
|
|
NM_022124.6(CDH23):c.2060-19C>G
|
rs2290024
|
0.02940
|
|
NM_213599.3(ANO5):c.1898+29G>T
|
rs76084798
|
0.02917
|
|
NM_001267550.2(TTN):c.20861C>T (p.Ala6954Val)
|
rs17355446
|
0.02915
|
|
NM_001384140.1(PCDH15):c.1910A>G (p.Asn637Ser)
|
rs61731389
|
0.02908
|
|
NM_001367624.2(ZNF469):c.8212G>A (p.Ala2738Thr)
|
rs3812955
|
0.02902
|
|
NM_001267550.2(TTN):c.32393-12A>G
|
rs16866434
|
0.02884
|
|
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_001379286.1(ZNF423):c.1869G>A (p.Pro623=)
|
rs16947741
|
0.02845
|
|
NM_018136.5(ASPM):c.5083C>T (p.Arg1695Cys)
|
rs80238010
|
0.02796
|
|
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_001267550.2(TTN):c.36299A>T (p.Glu12100Val)
|
rs73973133
|
0.02781
|
|
NM_001379286.1(ZNF423):c.1910A>G (p.Asn637Ser)
|
rs34214571
|
0.02773
|
|
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln)
|
rs2302677
|
0.02738
|
|
NM_000466.3(PEX1):c.2584-20T>A
|
rs111535201
|
0.02687
|
|
NM_004525.3(LRP2):c.12151+4T>C
|
rs17848192
|
0.02665
|
|
NM_213599.3(ANO5):c.2521-13A>G
|
rs76850415
|
0.02660
|
|
NM_004525.3(LRP2):c.11759-11T>G
|
rs17848191
|
0.02650
|
|
NM_001267550.2(TTN):c.8116+19G>A
|
rs13011633
|
0.02607
|
|
NM_001384474.1(LOXHD1):c.4531-19C>T
|
rs117403100
|
0.02599
|
|
NM_001080414.4(CCDC88C):c.4975C>A (p.Arg1659=)
|
rs150512553
|
0.02576
|
|
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met)
|
rs35996821
|
0.02553
|
|
NM_014956.5(CEP164):c.1430A>G (p.His477Arg)
|
rs117083334
|
0.02549
|
|
NM_001367624.2(ZNF469):c.4434C>T (p.Ser1478=)
|
rs74032865
|
0.02534
|
|
NM_001379286.1(ZNF423):c.3850-9C>T
|
rs78514142
|
0.02527
|
|
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu)
|
rs72648986
|
0.02522
|
|
NM_022095.4(ZNF335):c.3487+14G>C
|
rs73622634
|
0.02516
|
|
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_004525.3(LRP2):c.2006G>A (p.Gly669Asp)
|
rs34291900
|
0.02496
|
|
NM_016373.4(WWOX):c.547G>A (p.Asp183Asn)
|
rs74944733
|
0.02435
|
|
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr)
|
rs35683768
|
0.02431
|
|
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala)
|
rs17078601
|
0.02418
|
|
NM_000091.5(COL4A3):c.933+14T>C
|
rs55928538
|
0.02412
|
|
NM_001267550.2(TTN):c.25626G>T (p.Gln8542His)
|
rs2562832
|
0.02406
|
|
NM_022095.4(ZNF335):c.3187C>A (p.Arg1063=)
|
rs11905235
|
0.02405
|
|
NM_001267550.2(TTN):c.25707T>C (p.Tyr8569=)
|
rs2742329
|
0.02401
|
|
NM_001267550.2(TTN):c.45526C>T (p.Leu15176=)
|
rs61004744
|
0.02387
|
|
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_001267550.2(TTN):c.22786G>C (p.Asp7596His)
|
rs72648970
|
0.02369
|
|
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu)
|
rs13021201
|
0.02363
|
|
NM_001386140.1(MTTP):c.1981G>A (p.Gly661Ser)
|
rs113337987
|
0.02355
|
|
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_001367624.2(ZNF469):c.11409G>C (p.Gly3803=)
|
rs150233193
|
0.02319
|
|
NM_021628.3(ALOXE3):c.785-14C>T
|
rs113539426
|
0.02299
|
|
NM_001692.4(ATP6V1B1):c.118+18C>T
|
rs35768563
|
0.02289
|
|
NM_001367624.2(ZNF469):c.10975G>A (p.Gly3659Arg)
|
rs3812951
|
0.02265
|
|
NM_001267550.2(TTN):c.26991A>G (p.Thr8997=)
|
rs61232800
|
0.02248
|
|
NM_000337.6(SGCD):c.*7596A>G
|
rs80115276
|
0.02244
|
|
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_206933.4(USH2A):c.7300+29A>G
|
rs41277208
|
0.02225
|
|
NM_133378.4(TTN):c.93062-10T>C
|
rs202214630
|
0.02222
|
|
NM_001267550.2(TTN):c.36203-9T>C
|
rs2562849
|
0.02192
|
|
NM_001267550.2(TTN):c.38880A>G (p.Pro12960=)
|
rs2742354
|
0.02192
|
|
NM_001267550.2(TTN):c.41508T>C (p.Ala13836=)
|
rs55847232
|
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_001367624.2(ZNF469):c.4406A>G (p.Tyr1469Cys)
|
rs116072997
|
0.02164
|
|
NM_001267550.2(TTN):c.15717G>A (p.Thr5239=)
|
rs72648932
|
0.02158
|
|
NM_001367624.2(ZNF469):c.2913C>A (p.Gly971=)
|
rs60462217
|
0.02154
|
|
NM_213599.3(ANO5):c.1120-24A>T
|
rs11026476
|
0.02147
|
|
NM_001267550.2(TTN):c.93387C>T (p.Ser31129=)
|
rs35445420
|
0.02143
|
|
NM_001384140.1(PCDH15):c.3718-19C>A
|
rs75248212
|
0.02141
|
|
NM_001367624.2(ZNF469):c.3650C>T (p.Pro1217Leu)
|
rs115183769
|
0.02140
|
|
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile)
|
rs55675869
|
0.02132
|
|
NM_001267550.2(TTN):c.43488G>A (p.Arg14496=)
|
rs56034831
|
0.02114
|
|
NM_001267550.2(TTN):c.12117C>T (p.Pro4039=)
|
rs55895721
|
0.02109
|
|
NM_001267550.2(TTN):c.67635T>C (p.Val22545=)
|
rs2288570
|
0.02106
|
|
NM_015046.7(SETX):c.498+20G>A
|
rs73659013
|
0.02106
|
|
NM_006642.5(SDCCAG8):c.912C>T (p.Thr304=)
|
rs976529
|
0.02103
|
|
NM_015046.7(SETX):c.6936-27T>G
|
rs2296866
|
0.02083
|
|
NM_001267550.2(TTN):c.52821T>C (p.Asp17607=)
|
rs2303831
|
0.02082
|
|
NM_001267550.2(TTN):c.42071A>G (p.His14024Arg)
|
rs2288563
|
0.02080
|
|
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile)
|
rs2303832
|
0.02072
|
|
NM_001267550.2(TTN):c.36318A>G (p.Lys12106=)
|
rs2115557
|
0.02057
|
|
NM_001267550.2(TTN):c.24880A>G (p.Arg8294Gly)
|
rs72648982
|
0.02056
|
|
NM_001267550.2(TTN):c.51684G>A (p.Ala17228=)
|
rs2288566
|
0.02055
|
|
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_018136.5(ASPM):c.*60C>T
|
rs1537318
|
0.02044
|
|
NM_206933.4(USH2A):c.573A>G (p.Val191=)
|
rs73102592
|
0.02039
|
|
NM_001081.4(CUBN):c.7724C>G (p.Pro2575Arg)
|
rs3740168
|
0.02019
|
|
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_206933.4(USH2A):c.6875G>A (p.Arg2292His)
|
rs41277210
|
0.02015
|
|
NM_001267550.2(TTN):c.86811A>G (p.Val28937=)
|
rs55972010
|
0.02012
|
|
NM_018136.5(ASPM):c.3391-14G>T
|
rs80058948
|
0.02003
|
|
NM_001267550.2(TTN):c.92901C>T (p.Ser30967=)
|
rs11694623
|
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_001267550.2(TTN):c.76720T>C (p.Tyr25574His)
|
rs3813245
|
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_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_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_001267550.2(TTN):c.81855C>T (p.Ile27285=)
|
rs56214710
|
0.01979
|
|
NM_000553.6(WRN):c.1155G>A (p.Glu385=)
|
rs2230010
|
0.01974
|
|
NM_004525.3(LRP2):c.6045C>T (p.Ala2015=)
|
rs34834388
|
0.01962
|
|
NM_001267550.2(TTN):c.18903C>T (p.Thr6301=)
|
rs72648950
|
0.01956
|
|
NM_000337.6(SGCD):c.295-40T>A
|
rs74571343
|
0.01950
|
|
NM_153700.2(STRC):c.3360T>C (p.Cys1120=)
|
rs56385906
|
0.01920
|
|
NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser)
|
rs72650006
|
0.01917
|
|
NM_000091.5(COL4A3):c.988-80T>C
|
rs56326869
|
0.01910
|
|
NM_001379286.1(ZNF423):c.3351G>A (p.Pro1117=)
|
rs113531514
|
0.01899
|
|
NM_002160.4(TNC):c.2207A>G (p.Asp736Gly)
|
rs61735551
|
0.01898
|
|
NM_206933.4(USH2A):c.13297G>T (p.Val4433Leu)
|
rs111033381
|
0.01895
|
|
NM_001267550.2(TTN):c.24909G>A (p.Lys8303=)
|
rs72648983
|
0.01872
|
|
NM_001267550.2(TTN):c.37461A>T (p.Glu12487Asp)
|
rs200021871
|
0.01863
|
|
NM_000243.3(MEFV):c.-614C>G
|
rs11466012
|
0.01850
|
|
NM_000543.5(SMPD1):c.1749G>A (p.Ser583=)
|
rs35098198
|
0.01843
|
|
NM_015046.7(SETX):c.6106+14G>A
|
rs73661157
|
0.01840
|
|
NM_001267550.2(TTN):c.45206A>T (p.Glu15069Val)
|
rs114331773
|
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_153700.2(STRC):c.4035G>C (p.Leu1345=)
|
rs143345370
|
0.01824
|
|
NM_018136.5(ASPM):c.2419+12G>A
|
rs77191836
|
0.01806
|
|
NM_001267550.2(TTN):c.10850C>T (p.Ser3617Phe)
|
rs57389274
|
0.01798
|
|
NM_001367624.2(ZNF469):c.6944C>G (p.Pro2315Arg)
|
rs77490207
|
0.01795
|
|
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_001367624.2(ZNF469):c.5697C>T (p.Ser1899=)
|
rs111986360
|
0.01774
|
|
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_022124.6(CDH23):c.2424G>A (p.Gly808=)
|
rs76601590
|
0.01745
|
|
NM_001184.4(ATR):c.946G>A (p.Val316Ile)
|
rs28897764
|
0.01744
|
|
NM_001184.4(ATR):c.1950G>A (p.Glu650=)
|
rs28910270
|
0.01739
|
|
NM_004525.3(LRP2):c.6035G>A (p.Arg2012Lys)
|
rs4667596
|
0.01732
|
|
NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile)
|
rs61340537
|
0.01730
|
|
NM_022124.6(CDH23):c.7467C>T (p.Arg2489=)
|
rs111033289
|
0.01726
|
|
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_001267550.2(TTN):c.21106G>A (p.Asp7036Asn)
|
rs72648962
|
0.01709
|
|
NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp)
|
rs41278174
|
0.01708
|
|
NM_002454.3(MTRR):c.1761T>C (p.Tyr587=)
|
rs6874544
|
0.01706
|
|
NM_206933.4(USH2A):c.5857+17A>C
|
rs74766738
|
0.01694
|
|
NM_001267550.2(TTN):c.37202-4T>C
|
rs202032281
|
0.01693
|
|
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile)
|
rs72647851
|
0.01678
|
|
NM_000492.4(CFTR):c.1584G>A (p.Glu528=)
|
rs1800095
|
0.01670
|
|
NM_001267550.2(TTN):c.36855G>A (p.Pro12285=)
|
rs535294541
|
0.01666
|
|
NM_018230.3(NUP133):c.1263C>T (p.Asn421=)
|
rs34971259
|
0.01665
|
|
NM_001267550.2(TTN):c.25936C>T (p.Arg8646Cys)
|
rs72648987
|
0.01656
|
|
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val)
|
rs72648954
|
0.01649
|
|
NM_001184.4(ATR):c.2875G>A (p.Val959Met)
|
rs28910271
|
0.01643
|
|
NM_001171.6(ABCC6):c.2171G>A (p.Arg724Lys)
|
rs58073789
|
0.01638
|
|
NM_001267550.2(TTN):c.98164A>T (p.Ile32722Phe)
|
rs72648270
|
0.01635
|
|
NM_001267550.2(TTN):c.101803A>G (p.Ile33935Val)
|
rs56376197
|
0.01633
|
|
NM_022095.4(ZNF335):c.2167T>G (p.Phe723Val)
|
rs41305805
|
0.01624
|
|
NM_001367624.2(ZNF469):c.3894G>C (p.Val1298=)
|
rs115790991
|
0.01614
|
|
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe)
|
rs33917087
|
0.01611
|
|
NM_002160.4(TNC):c.6006G>A (p.Leu2002=)
|
rs61736828
|
0.01597
|
|
NM_000243.3(MEFV):c.*133G>A
|
rs2075849
|
0.01591
|
|
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu)
|
rs12352982
|
0.01591
|
|
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)
|
rs11466023
|
0.01590
|
|
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_000271.5(NPC1):c.1947+14G>T
|
rs3745024
|
0.01574
|
|
NM_001614.5(ACTG1):c.399C>T (p.Tyr133=)
|
rs2230158
|
0.01567
|
|
NM_001614.5(ACTG1):c.729C>T (p.Pro243=)
|
rs2230159
|
0.01563
|
|
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys)
|
rs72647875
|
0.01559
|
|
NM_206933.4(USH2A):c.6369C>T (p.Cys2123=)
|
rs111033472
|
0.01557
|
|
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=)
|
rs6725673
|
0.01548
|
|
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr)
|
rs744427
|
0.01542
|
|
NM_002160.4(TNC):c.3353G>A (p.Arg1118Gln)
|
rs61738263
|
0.01534
|
|
NM_001267550.2(TTN):c.52706-17A>G
|
rs72646807
|
0.01524
|
|
NM_004525.3(LRP2):c.11759-5T>G
|
rs76488092
|
0.01524
|
|
NM_001267550.2(TTN):c.18390A>T (p.Thr6130=)
|
rs66523653
|
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_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_018136.5(ASPM):c.5063C>T (p.Thr1688Ile)
|
rs62624968
|
0.01513
|
|
NM_001184.4(ATR):c.293-20C>T
|
rs115097590
|
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_016373.4(WWOX):c.108-12del
|
rs149533117
|
0.01497
|
|
NM_001267550.2(TTN):c.2781A>C (p.Thr927=)
|
rs55892860
|
0.01493
|
|
NM_004525.3(LRP2):c.2726A>G (p.His909Arg)
|
rs36082715
|
0.01487
|
|
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_001267550.2(TTN):c.40141+7G>A
|
rs77960621
|
0.01470
|
|
NM_018136.5(ASPM):c.3912C>A (p.Ile1304=)
|
rs56912014
|
0.01464
|
|
NM_018136.5(ASPM):c.2307A>G (p.Ala769=)
|
rs35897746
|
0.01457
|
|
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)
|
rs11466024
|
0.01456
|
|
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_025216.3(WNT10A):c.682T>A (p.Phe228Ile)
|
rs121908120
|
0.01450
|
|
NM_206933.4(USH2A):c.4371G>A (p.Ser1457=)
|
rs56013136
|
0.01440
|
|
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val)
|
rs16866391
|
0.01426
|
|
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_206933.4(USH2A):c.8681+18A>G
|
rs41277198
|
0.01418
|
|
NM_031885.5(BBS2):c.1413A>C (p.Val471=)
|
rs35294865
|
0.01415
|
|
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=)
|
rs2303836
|
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_001267550.2(TTN):c.49985A>C (p.Asn16662Thr)
|
rs36043230
|
0.01390
|
|
NM_001367624.2(ZNF469):c.10708G>A (p.Ala3570Thr)
|
rs57052487
|
0.01385
|
|
NM_018136.5(ASPM):c.2751C>T (p.Ala917=)
|
rs33987824
|
0.01382
|
|
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp)
|
rs56038610
|
0.01377
|
|
NM_000553.6(WRN):c.3384-3T>C
|
rs3087424
|
0.01376
|
|
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys)
|
rs56324595
|
0.01363
|
|
NM_002160.4(TNC):c.5745C>A (p.Thr1915=)
|
rs10118726
|
0.01360
|
|
NM_001267550.2(TTN):c.10700G>A (p.Ser3567Asn)
|
rs72955213
|
0.01357
|
|
NM_001171.6(ABCC6):c.1077A>G (p.Ser359=)
|
rs72664283
|
0.01355
|
|
NM_001267550.2(TTN):c.26245G>A (p.Val8749Ile)
|
rs16866457
|
0.01351
|
|
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_001267550.2(TTN):c.65516C>T (p.Ala21839Val)
|
rs55948748
|
0.01336
|
|
NM_004525.3(LRP2):c.3452C>T (p.Pro1151Leu)
|
rs150552608
|
0.01319
|
|
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_001267550.2(TTN):c.37009C>T (p.Pro12337Ser)
|
rs201474544
|
0.01309
|
|
NM_000337.6(SGCD):c.*3898C>T
|
rs74717343
|
0.01308
|
|
NM_001267550.2(TTN):c.2949C>T (p.Ile983=)
|
rs56310516
|
0.01308
|
|
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_015046.7(SETX):c.6507G>A (p.Gly2169=)
|
rs34073320
|
0.01300
|
|
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met)
|
rs16866475
|
0.01294
|
|
NM_000243.2(MEFV):c.-330G>A
|
rs11466013
|
0.01286
|
|
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln)
|
rs55742743
|
0.01280
|
|
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_001184.4(ATR):c.4835A>G (p.Asn1612Ser)
|
rs55894265
|
0.01275
|
|
NM_001267550.2(TTN):c.23001G>A (p.Thr7667=)
|
rs16866467
|
0.01263
|
|
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_001267550.2(TTN):c.32648G>A (p.Arg10883Lys)
|
rs116676813
|
0.01242
|
|
NM_000070.3(CAPN3):c.-104G>C
|
rs149698681
|
0.01241
|
|
NM_000091.5(COL4A3):c.3882+132T>C
|
rs11677093
|
0.01240
|
|
NM_015046.7(SETX):c.*351G>T
|
rs117409290
|
0.01236
|
|
NM_016373.4(WWOX):c.351C>G (p.Leu117=)
|
rs34944716
|
0.01231
|
|
NM_001367624.2(ZNF469):c.8121G>A (p.Ala2707=)
|
rs116696830
|
0.01217
|
|
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_000260.4(MYO7A):c.6519C>T (p.Asn2173=)
|
rs111033230
|
0.01207
|
|
NM_206933.4(USH2A):c.5572+15G>A
|
rs17026052
|
0.01200
|
|
NM_001267550.2(TTN):c.1003G>A (p.Val335Met)
|
rs72647846
|
0.01195
|
|
NM_001267550.2(TTN):c.98595A>G (p.Glu32865=)
|
rs55977045
|
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_001267550.2(TTN):c.36625G>T (p.Val12209Leu)
|
rs72650053
|
0.01188
|
|
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_001184.4(ATR):c.5739-7_5739-6del
|
rs72371423
|
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_001267550.2(TTN):c.100766-9C>T
|
rs77483833
|
0.01165
|
|
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_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_153700.2(STRC):c.4127+8C>T
|
rs2470137
|
0.01144
|
|
NM_001267550.2(TTN):c.47400G>A (p.Lys15800=)
|
rs114145817
|
0.01143
|
|
NM_001267550.2(TTN):c.36489G>A (p.Ala12163=)
|
rs115493456
|
0.01140
|
|
NM_206933.4(USH2A):c.3945T>C (p.Asn1315=)
|
rs41303257
|
0.01136
|
|
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_001171.6(ABCC6):c.4208+9G>A
|
rs58760581
|
0.01119
|
|
NM_001267550.2(TTN):c.16095C>T (p.Asn5365=)
|
rs72648935
|
0.01116
|
|
NM_206933.4(USH2A):c.7301-65C>T
|
rs41277204
|
0.01115
|
|
NM_206933.4(USH2A):c.9213G>A (p.Ser3071=)
|
rs111033397
|
0.01111
|
|
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_001614.5(ACTG1):c.124-14G>A
|
rs115307446
|
0.01103
|
|
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_001267550.2(TTN):c.89317A>T (p.Ile29773Leu)
|
rs77853750
|
0.01096
|
|
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met)
|
rs55865284
|
0.01093
|
|
NM_002160.4(TNC):c.781G>A (p.Gly261Ser)
|
rs61736826
|
0.01088
|
|
NM_001267550.2(TTN):c.105787G>T (p.Ala35263Ser)
|
rs67254537
|
0.01080
|
|
NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val)
|
rs66961115
|
0.01079
|
|
NM_001267550.2(TTN):c.11019C>T (p.Cys3673=)
|
rs72955212
|
0.01069
|
|
NM_004525.3(LRP2):c.13134C>G (p.Pro4378=)
|
rs73970129
|
0.01063
|
|
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)
|
rs80358251
|
0.01055
|
|
NM_000553.6(WRN):c.2631-17A>C
|
rs3087433
|
0.01054
|
|
NM_001111.5(ADAR):c.1760A>G (p.Tyr587Cys)
|
rs17843865
|
0.01046
|
|
NM_004525.3(LRP2):c.10804G>A (p.Ala3602Thr)
|
rs144081819
|
0.01045
|
|
NM_001267550.2(TTN):c.4347A>G (p.Ser1449=)
|
rs719202
|
0.01042
|
|
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met)
|
rs41281330
|
0.01037
|
|
NM_001184.4(ATR):c.891G>C (p.Lys297Asn)
|
rs2229033
|
0.01036
|
|
NM_001184.4(ATR):c.4002G>A (p.Gln1334=)
|
rs56026468
|
0.01034
|
|
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_000243.3(MEFV):c.1772T>C (p.Ile591Thr)
|
rs11466045
|
0.01021
|
|
NM_004525.3(LRP2):c.9033-8T>C
|
rs140148483
|
0.01021
|
|
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_022095.4(ZNF335):c.1102+9T>C
|
rs112458662
|
0.01017
|
|
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met)
|
rs73038314
|
0.01013
|
|
NM_001267550.2(TTN):c.19004A>G (p.Asp6335Gly)
|
rs72648951
|
0.01012
|
|
NM_015602.4(TOR1AIP1):c.909T>C (p.Asn303=)
|
rs115742637
|
0.01001
|
|
NM_004525.3(LRP2):c.5085G>A (p.Ser1695=)
|
rs145384264
|
0.00999
|
|
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)
|
rs74374973
|
0.00994
|
|
NM_001367624.2(ZNF469):c.4926G>A (p.Ser1642=)
|
rs117310292
|
0.00992
|
|
NM_014363.6(SACS):c.10305T>C (p.Ser3435=)
|
rs35670472
|
0.00986
|
|
NM_002160.4(TNC):c.1642G>A (p.Val548Met)
|
rs61729478
|
0.00984
|
|
NM_206933.4(USH2A):c.4440C>T (p.Ser1480=)
|
rs111632670
|
0.00984
|
|
NM_014363.6(SACS):c.12762C>T (p.Ser4254=)
|
rs11554397
|
0.00978
|
|
NM_206933.4(USH2A):c.7584C>T (p.Thr2528=)
|
rs78250390
|
0.00976
|
|
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln)
|
rs34819099
|
0.00971
|
|
NM_213599.3(ANO5):c.604G>A (p.Glu202Lys)
|
rs115750596
|
0.00971
|
|
NM_001379286.1(ZNF423):c.711C>T (p.Arg237=)
|
rs16947744
|
0.00969
|
|
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys)
|
rs12471771
|
0.00967
|
|
NM_001267550.2(TTN):c.82575G>A (p.Thr27525=)
|
rs11896779
|
0.00966
|
|
NM_001184.4(ATR):c.6339A>G (p.Val2113=)
|
rs7635479
|
0.00964
|
|
NM_206933.4(USH2A):c.13763C>A (p.Ser4588Tyr)
|
rs78253373
|
0.00962
|
|
NM_001083961.2(WDR62):c.1642+8C>T
|
rs143309981
|
0.00960
|
|
NM_015046.7(SETX):c.-124C>T
|
rs114850064
|
0.00959
|
|
NM_001267550.2(TTN):c.17741-9A>G
|
rs72648944
|
0.00958
|
|
NM_206933.4(USH2A):c.12445T>C (p.Trp4149Arg)
|
rs115884084
|
0.00956
|
|
NM_004525.3(LRP2):c.1172-8G>A
|
rs115371758
|
0.00955
|
|
NM_001083961.2(WDR62):c.2975C>T (p.Ser992Leu)
|
rs74518295
|
0.00953
|
|
NM_018136.5(ASPM):c.7917A>G (p.Lys2639=)
|
rs112647911
|
0.00953
|
|
NM_004525.3(LRP2):c.1167T>G (p.Asp389Glu)
|
rs111704488
|
0.00952
|
|
NM_001367624.2(ZNF469):c.9004A>C (p.Met3002Leu)
|
rs141776185
|
0.00951
|
|
NM_018136.5(ASPM):c.7353G>A (p.Leu2451=)
|
rs111487086
|
0.00949
|
|
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_001171.6(ABCC6):c.487G>A (p.Asp163Asn)
|
rs192110266
|
0.00934
|
|
NM_001367624.2(ZNF469):c.2814G>A (p.Ala938=)
|
rs140480823
|
0.00931
|
|
NM_000553.6(WRN):c.2732+19A>G
|
rs77434316
|
0.00923
|
|
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_000337.5(SGCD):c.-179A>G
|
rs77808502
|
0.00918
|
|
NM_025132.4(WDR19):c.1607G>C (p.Ser536Thr)
|
rs115348383
|
0.00917
|
|
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=)
|
rs62178963
|
0.00915
|
|
NM_000023.4(SGCA):c.528C>T (p.Thr176=)
|
rs1801190
|
0.00912
|
|
NM_213599.3(ANO5):c.*1429A>G
|
rs78143145
|
0.00911
|
|
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_001367624.2(ZNF469):c.4884G>A (p.Thr1628=)
|
rs141666432
|
0.00893
|
|
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr)
|
rs61995747
|
0.00892
|
|
NM_000492.4(CFTR):c.1210-11T>G
|
rs73715573
|
0.00886
|
|
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys)
|
rs41273726
|
0.00885
|
|
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_018136.5(ASPM):c.8820+7C>G
|
rs115045814
|
0.00865
|
|
NM_194292.3(SASS6):c.735A>G (p.Gln245=)
|
rs150364529
|
0.00856
|
|
NM_001171.6(ABCC6):c.3289C>A (p.Leu1097Ile)
|
rs60707953
|
0.00849
|
|
NM_025132.4(WDR19):c.1581C>A (p.Thr527=)
|
rs114689848
|
0.00847
|
|
NM_018136.5(ASPM):c.7023C>T (p.Ile2341=)
|
rs115891952
|
0.00843
|
|
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu)
|
rs115658240
|
0.00835
|
|
NM_004525.3(LRP2):c.11996T>G (p.Val3999Gly)
|
rs79723119
|
0.00834
|
|
NM_001267550.2(TTN):c.33340+10T>C
|
rs72650039
|
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_001267550.2(TTN):c.71940G>A (p.Leu23980=)
|
rs72646893
|
0.00826
|
|
NM_001267550.2(TTN):c.79689C>A (p.Val26563=)
|
rs10185798
|
0.00826
|
|
NM_004525.3(LRP2):c.2175C>T (p.Thr725=)
|
rs141180155
|
0.00820
|
|
NM_001184.4(ATR):c.268C>T (p.His90Tyr)
|
rs28897763
|
0.00813
|
|
NM_001384140.1(PCDH15):c.4367+88A>G
|
rs45466098
|
0.00811
|
|
NM_001367624.2(ZNF469):c.10034G>A (p.Arg3345His)
|
rs79339739
|
0.00810
|
|
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_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_001081.4(CUBN):c.6788T>G (p.Phe2263Cys)
|
rs2271460
|
0.00803
|
|
NM_001267550.2(TTN):c.86301G>A (p.Lys28767=)
|
rs56310931
|
0.00799
|
|
NM_000360.4(TH):c.487+3G>A
|
rs11042950
|
0.00795
|
|
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe)
|
rs62109744
|
0.00795
|
|
NM_004525.3(LRP2):c.13803G>A (p.Met4601Ile)
|
rs34564141
|
0.00790
|
|
NM_018136.5(ASPM):c.5206C>G (p.Gln1736Glu)
|
rs62623455
|
0.00788
|
|
NM_001171.6(ABCC6):c.4254G>A (p.Arg1418=)
|
rs58668703
|
0.00784
|
|
NM_018136.5(ASPM):c.7565T>G (p.Leu2522Ter)
|
rs62624965
|
0.00780
|
|
NM_018136.5(ASPM):c.2218A>T (p.Ile740Leu)
|
rs35203521
|
0.00779
|
|
NM_018136.5(ASPM):c.644A>C (p.Glu215Ala)
|
rs114695225
|
0.00779
|
|
NM_001267550.2(TTN):c.6727G>T (p.Asp2243Tyr)
|
rs138787974
|
0.00778
|
|
NM_018136.5(ASPM):c.1451A>G (p.Asn484Ser)
|
rs114737609
|
0.00775
|
|
NM_001171.6(ABCC6):c.2707G>C (p.Glu903Gln)
|
rs60712230
|
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_206933.4(USH2A):c.6240G>T (p.Lys2080Asn)
|
rs114402911
|
0.00770
|
|
NM_001367624.2(ZNF469):c.4363C>G (p.Leu1455Val)
|
rs116532825
|
0.00765
|
|
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile)
|
rs61750974
|
0.00763
|
|
NM_206933.4(USH2A):c.8558+40C>A
|
rs55713064
|
0.00762
|
|
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His)
|
rs59887778
|
0.00758
|
|
NM_001267550.2(TTN):c.42219C>T (p.Phe14073=)
|
rs150612172
|
0.00757
|
|
NM_025216.3(WNT10A):c.493G>A (p.Gly165Arg)
|
rs77583146
|
0.00755
|
|
NM_018136.5(ASPM):c.9773A>G (p.His3258Arg)
|
rs7528827
|
0.00754
|
|
NM_001367624.2(ZNF469):c.5087C>T (p.Pro1696Leu)
|
rs115487796
|
0.00752
|
|
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_206933.4(USH2A):c.11048-15C>T
|
rs74141403
|
0.00740
|
|
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_001171.6(ABCC6):c.1815C>T (p.Leu605=)
|
rs61318127
|
0.00732
|
|
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_213599.3(ANO5):c.800C>G (p.Thr267Ser)
|
rs138144479
|
0.00727
|
|
NM_206933.4(USH2A):c.9959-11T>G
|
rs116150014
|
0.00724
|
|
NM_001267550.2(TTN):c.60232G>A (p.Val20078Met)
|
rs77351975
|
0.00719
|
|
NM_018136.5(ASPM):c.5629G>A (p.Ala1877Thr)
|
rs112230218
|
0.00719
|
|
NM_001267550.2(TTN):c.63026G>A (p.Arg21009Gln)
|
rs72646851
|
0.00718
|
|
NM_000337.6(SGCD):c.*822C>T
|
rs78615220
|
0.00715
|
|
NM_000271.5(NPC1):c.2661G>A (p.Pro887=)
|
rs9949660
|
0.00711
|
|
NM_004525.3(LRP2):c.12811+12G>A
|
rs112157558
|
0.00710
|
|
NM_001267550.2(TTN):c.50551+20C>T
|
rs67636125
|
0.00708
|
|
NM_001367624.2(ZNF469):c.7805T>C (p.Leu2602Pro)
|
rs150488251
|
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_014363.6(SACS):c.4118C>T (p.Ala1373Val)
|
rs61548169
|
0.00705
|
|
NM_014363.6(SACS):c.5502G>C (p.Leu1834=)
|
rs34389000
|
0.00705
|
|
NM_001267550.2(TTN):c.57462G>A (p.Gln19154=)
|
rs72646832
|
0.00703
|
|
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_001267550.2(TTN):c.24160A>T (p.Ile8054Leu)
|
rs72648976
|
0.00701
|
|
NM_001267550.2(TTN):c.24345C>T (p.Ser8115=)
|
rs72648977
|
0.00701
|
|
NM_213599.3(ANO5):c.1545A>G (p.Ser515=)
|
rs35843353
|
0.00699
|
|
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_206933.4(USH2A):c.10552G>A (p.Val3518Ile)
|
rs75397806
|
0.00696
|
|
NM_001267550.2(TTN):c.32722+9G>A
|
rs148231130
|
0.00695
|
|
NM_001267550.2(TTN):c.43596T>C (p.Asn14532=)
|
rs16866423
|
0.00691
|
|
NM_018136.5(ASPM):c.1987G>T (p.Ala663Ser)
|
rs113611857
|
0.00689
|
|
NM_016373.4(WWOX):c.754C>G (p.Pro252Ala)
|
rs75559202
|
0.00684
|
|
NM_001267550.2(TTN):c.45083-10A>G
|
rs72677222
|
0.00683
|
|
NM_206933.4(USH2A):c.9723C>T (p.Tyr3241=)
|
rs6660707
|
0.00683
|
|
NM_001267550.2(TTN):c.99111T>C (p.Tyr33037=)
|
rs77257306
|
0.00682
|
|
NM_000337.6(SGCD):c.507G>A (p.Ala169=)
|
rs10071079
|
0.00680
|
|
NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln)
|
rs41281338
|
0.00677
|
|
NM_016373.4(WWOX):c.613C>A (p.His205Asn)
|
rs74860463
|
0.00674
|
|
NM_001267550.2(TTN):c.81057T>C (p.Thr27019=)
|
rs114908705
|
0.00671
|
|
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=)
|
rs7811324
|
0.00669
|
|
NM_022095.4(ZNF335):c.3180C>T (p.Pro1060=)
|
rs61729182
|
0.00669
|
|
NM_004525.3(LRP2):c.2024T>C (p.Val675Ala)
|
rs116332504
|
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_001267550.2(TTN):c.21044C>T (p.Ala7015Val)
|
rs72648960
|
0.00666
|
|
NM_018136.5(ASPM):c.3742-10T>G
|
rs41299587
|
0.00665
|
|
NM_022095.4(ZNF335):c.3489T>C (p.Thr1163=)
|
rs116077790
|
0.00661
|
|
NM_018136.5(ASPM):c.3741+3A>G
|
rs138558822
|
0.00656
|
|
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_015046.7(SETX):c.1957C>A (p.Gln653Lys)
|
rs116333061
|
0.00653
|
|
NM_001267550.2(TTN):c.53288-18G>T
|
rs72646810
|
0.00643
|
|
NM_002160.4(TNC):c.637G>A (p.Gly213Ser)
|
rs7020958
|
0.00643
|
|
NM_022124.6(CDH23):c.8980-14C>A
|
rs45522532
|
0.00642
|
|
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys)
|
rs28626194
|
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_001267550.2(TTN):c.19383T>C (p.Asn6461=)
|
rs76771282
|
0.00636
|
|
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly)
|
rs146983095
|
0.00634
|
|
NM_015046.7(SETX):c.7905C>T (p.Ala2635=)
|
rs112201716
|
0.00633
|
|
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser)
|
rs111033362
|
0.00631
|
|
NM_000553.6(WRN):c.1953C>T (p.Gly651=)
|
rs11574263
|
0.00627
|
|
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_000023.4(SGCA):c.*10C>G
|
rs60300808
|
0.00619
|
|
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=)
|
rs56174006
|
0.00618
|
|
NM_002160.4(TNC):c.6482A>G (p.Asn2161Ser)
|
rs75198247
|
0.00615
|
|
NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe)
|
rs34618570
|
0.00613
|
|
NM_004525.3(LRP2):c.923-6G>A
|
rs144147038
|
0.00611
|
|
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_015046.7(SETX):c.59G>A (p.Arg20His)
|
rs79740039
|
0.00602
|
|
NM_001267550.2(TTN):c.45350-13T>C
|
rs113084617
|
0.00600
|
|
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_001267550.2(TTN):c.17312C>G (p.Thr5771Ser)
|
rs16866477
|
0.00593
|
|
NM_001267550.2(TTN):c.88858C>T (p.Leu29620=)
|
rs115070904
|
0.00590
|
|
NM_000243.3(MEFV):c.1760-97G>A
|
rs11466044
|
0.00589
|
|
NM_001367624.2(ZNF469):c.1994C>T (p.Pro665Leu)
|
rs184583062
|
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_001083961.2(WDR62):c.1959-20A>G
|
rs150830386
|
0.00582
|
|
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)
|
rs138036823
|
0.00577
|
|
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)
|
rs34911792
|
0.00573
|
|
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_015046.7(SETX):c.*319C>T
|
rs1056912
|
0.00570
|
|
NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn)
|
rs35865691
|
0.00562
|
|
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_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_014363.6(SACS):c.10896A>G (p.Ile3632Met)
|
rs35256065
|
0.00558
|
|
NM_004525.3(LRP2):c.8892G>A (p.Arg2964=)
|
rs149148763
|
0.00557
|
|
NM_000023.4(SGCA):c.1120C>T (p.Arg374Cys)
|
rs35495899
|
0.00555
|
|
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly)
|
rs72646885
|
0.00553
|
|
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr)
|
rs56128843
|
0.00552
|
|
NM_015046.7(SETX):c.5275-43T>C
|
rs144258500
|
0.00547
|
|
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_206933.4(USH2A):c.14226G>A (p.Thr4742=)
|
rs78576418
|
0.00545
|
|
NM_022124.6(CDH23):c.8022G>A (p.Gln2674=)
|
rs201733315
|
0.00539
|
|
NM_001267550.2(TTN):c.42024+6T>C
|
rs140002940
|
0.00535
|
|
NM_001267550.2(TTN):c.39709+6C>T
|
rs72650067
|
0.00533
|
|
NM_002160.4(TNC):c.75C>G (p.Leu25=)
|
rs62638691
|
0.00531
|
|
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_014363.6(SACS):c.4466A>G (p.Asn1489Ser)
|
rs147099630
|
0.00521
|
|
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_000553.6(WRN):c.1725T>C (p.Tyr575=)
|
rs13438802
|
0.00516
|
|
NM_014363.6(SACS):c.1593C>T (p.Ile531=)
|
rs113756713
|
0.00513
|
|
NM_000553.6(WRN):c.1788T>C (p.Ser596=)
|
rs13438803
|
0.00512
|
|
NM_152618.3(BBS12):c.1103G>A (p.Arg368His)
|
rs78457123
|
0.00511
|
|
NM_001171.6(ABCC6):c.3207C>T (p.Tyr1069=)
|
rs60975032
|
0.00510
|
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
|
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)
|
rs146722795
|
0.00506
|
|
NM_001267550.2(TTN):c.38323C>T (p.Leu12775Phe)
|
rs186232617
|
0.00502
|
|
NM_194292.3(SASS6):c.312-4A>C
|
rs149440197
|
0.00500
|
|
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=)
|
rs76081119
|
0.00498
|
|
NM_001267550.2(TTN):c.91884A>T (p.Arg30628Ser)
|
rs144922355
|
0.00496
|
|
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_001267550.2(TTN):c.24973A>G (p.Lys8325Glu)
|
rs72648984
|
0.00493
|
|
NM_015046.7(SETX):c.1807A>G (p.Asn603Asp)
|
rs116205032
|
0.00493
|
|
NM_018136.5(ASPM):c.6727G>T (p.Val2243Leu)
|
rs148425392
|
0.00493
|
|
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)
|
rs121908954
|
0.00491
|
|
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.10851C>T (p.Asn3617=)
|
rs12073994
|
0.00488
|
|
NM_206933.4(USH2A):c.13440G>A (p.Arg4480=)
|
rs111033378
|
0.00488
|
|
NM_153700.2(STRC):c.498G>A (p.Pro166=)
|
rs139848805
|
0.00486
|
|
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_001267550.2(TTN):c.68079G>A (p.Thr22693=)
|
rs11904444
|
0.00481
|
|
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn)
|
rs116567963
|
0.00481
|
|
NM_206933.4(USH2A):c.5517G>A (p.Val1839=)
|
rs111033421
|
0.00479
|
|
NM_001171.6(ABCC6):c.3883-24G>A
|
rs59513011
|
0.00475
|
|
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_001267550.2(TTN):c.12233C>T (p.Thr4078Ile)
|
rs80136515
|
0.00471
|
|
NM_001379286.1(ZNF423):c.1986C>T (p.His662=)
|
rs75294107
|
0.00469
|
|
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_001367624.2(ZNF469):c.5414C>A (p.Pro1805His)
|
rs78446958
|
0.00467
|
|
NM_004525.3(LRP2):c.3659C>T (p.Ala1220Val)
|
rs144723964
|
0.00467
|
|
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_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_000243.3(MEFV):c.1356+31G>T
|
rs142775938
|
0.00459
|
|
NM_001379286.1(ZNF423):c.2562C>A (p.Pro854=)
|
rs12599354
|
0.00459
|
|
NM_001267550.2(TTN):c.60055G>A (p.Glu20019Lys)
|
rs201487340
|
0.00458
|
|
NM_015046.7(SETX):c.*475A>C
|
rs60760878
|
0.00452
|
|
NM_014363.6(SACS):c.12597A>G (p.Pro4199=)
|
rs112630127
|
0.00451
|
|
NM_015046.7(SETX):c.7287+207C>T
|
rs45490698
|
0.00451
|
|
NM_001173990.3(TMEM216):c.35-17C>T
|
rs147953784
|
0.00450
|
|
NM_001184.4(ATR):c.1328G>C (p.Arg443Thr)
|
rs28367453
|
0.00450
|
|
NM_014363.6(SACS):c.11688G>A (p.Arg3896=)
|
rs116791509
|
0.00448
|
|
NM_014363.6(SACS):c.10821C>A (p.Ile3607=)
|
rs113595574
|
0.00447
|
|
NM_001267550.2(TTN):c.101697C>T (p.Asp33899=)
|
rs114267234
|
0.00446
|
|
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_002160.4(TNC):c.1342C>G (p.Arg448Gly)
|
rs145086096
|
0.00442
|
|
NM_004525.3(LRP2):c.7917A>C (p.Gly2639=)
|
rs144126440
|
0.00441
|
|
NM_206933.4(USH2A):c.7160T>C (p.Met2387Thr)
|
rs115015305
|
0.00441
|
|
NM_206933.4(USH2A):c.6077A>G (p.Lys2026Arg)
|
rs115039883
|
0.00438
|
|
NM_018136.5(ASPM):c.5741A>G (p.Gln1914Arg)
|
rs113325473
|
0.00427
|
|
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_001367624.2(ZNF469):c.327G>A (p.Ala109=)
|
rs192479136
|
0.00424
|
|
NM_206933.4(USH2A):c.9459C>T (p.Cys3153=)
|
rs73090721
|
0.00422
|
|
NM_022095.4(ZNF335):c.3507C>T (p.His1169=)
|
rs141812371
|
0.00420
|
|
NM_001267550.2(TTN):c.25008C>T (p.Cys8336=)
|
rs116378128
|
0.00419
|
|
NM_018136.5(ASPM):c.-28G>A
|
rs111299108
|
0.00419
|
|
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg)
|
rs45549044
|
0.00419
|
|
NM_000553.6(WRN):c.4015G>A (p.Val1339Ile)
|
rs11574395
|
0.00418
|
|
NM_206933.4(USH2A):c.11794C>T (p.Leu3932=)
|
rs111033505
|
0.00418
|
|
NM_001367624.2(ZNF469):c.10795G>T (p.Ala3599Ser)
|
rs199760004
|
0.00417
|
|
NM_022095.4(ZNF335):c.826G>A (p.Ala276Thr)
|
rs117802609
|
0.00417
|
|
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_001184.4(ATR):c.4764C>T (p.Leu1588=)
|
rs142240637
|
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_206933.4(USH2A):c.6270A>G (p.Leu2090=)
|
rs56245532
|
0.00414
|
|
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn)
|
rs12344006
|
0.00412
|
|
NM_001379286.1(ZNF423):c.3291C>T (p.Tyr1097=)
|
rs150027129
|
0.00408
|
|
NM_206933.4(USH2A):c.12817T>C (p.Tyr4273His)
|
rs79654794
|
0.00408
|
|
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr)
|
rs45503297
|
0.00407
|
|
NM_001267550.2(TTN):c.59165T>C (p.Val19722Ala)
|
rs116592778
|
0.00406
|
|
NM_001267550.2(TTN):c.13706G>A (p.Ser4569Asn)
|
rs115532048
|
0.00405
|
|
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)
|
rs188164241
|
0.00405
|
|
NM_206933.4(USH2A):c.8937A>G (p.Val2979=)
|
rs139100097
|
0.00404
|
|
NM_001367624.2(ZNF469):c.7675A>G (p.Lys2559Glu)
|
rs146789160
|
0.00403
|
|
NM_001379286.1(ZNF423):c.2328C>T (p.His776=)
|
rs73565356
|
0.00402
|
|
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=)
|
rs111033516
|
0.00401
|
|
NM_015046.7(SETX):c.7371T>C (p.His2457=)
|
rs113071480
|
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_002160.4(TNC):c.96G>A (p.Lys32=)
|
rs145367019
|
0.00396
|
|
NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys)
|
rs139367209
|
0.00396
|
|
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_000091.5(COL4A3):c.3258G>A (p.Gly1086=)
|
rs147085074
|
0.00385
|
|
NM_004525.3(LRP2):c.13620+14C>G
|
rs142018904
|
0.00384
|
|
NM_000057.4(BLM):c.1722A>G (p.Leu574=)
|
rs28385011
|
0.00379
|
|
NM_001267550.2(TTN):c.7740T>G (p.Ile2580Met)
|
rs146590898
|
0.00379
|
|
NM_022124.6(CDH23):c.9510+13C>T
|
rs183692794
|
0.00379
|
|
NM_018136.5(ASPM):c.3791G>A (p.Arg1264His)
|
rs150125249
|
0.00378
|
|
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser)
|
rs111033394
|
0.00378
|
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
|
NM_001614.5(ACTG1):c.-6-3C>T
|
rs140724578
|
0.00374
|
|
NM_001367624.2(ZNF469):c.5824G>A (p.Gly1942Arg)
|
rs114755302
|
0.00371
|
|
NM_004525.3(LRP2):c.6194T>C (p.Ile2065Thr)
|
rs2228168
|
0.00369
|
|
NM_206933.4(USH2A):c.6257C>A (p.Thr2086Asn)
|
rs149202379
|
0.00369
|
|
NM_001267550.2(TTN):c.10854A>C (p.Gln3618His)
|
rs79466278
|
0.00365
|
|
NM_001267550.2(TTN):c.66160+16G>A
|
rs149714835
|
0.00364
|
|
NM_015046.7(SETX):c.3568A>G (p.Lys1190Glu)
|
rs35473230
|
0.00364
|
|
NM_000553.6(WRN):c.1577-17T>G
|
rs145080962
|
0.00363
|
|
NM_000360.4(TH):c.267G>A (p.Arg89=)
|
rs76240471
|
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_194292.3(SASS6):c.1835G>A (p.Arg612His)
|
rs143522528
|
0.00356
|
|
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys)
|
rs41303287
|
0.00356
|
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
|
NM_206933.4(USH2A):c.14543G>A (p.Arg4848Gln)
|
rs77211159
|
0.00354
|
|
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)
|
rs115545701
|
0.00350
|
|
NM_001184.4(ATR):c.6394T>G (p.Tyr2132Asp)
|
rs28910273
|
0.00349
|
|
NM_002160.4(TNC):c.1719C>T (p.Cys573=)
|
rs141544394
|
0.00347
|
|
NM_014363.6(SACS):c.171+13C>T
|
rs374672041
|
0.00347
|
|
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu)
|
rs41308435
|
0.00346
|
|
NM_001267550.2(TTN):c.75441A>G (p.Lys25147=)
|
rs56151652
|
0.00343
|
|
NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser)
|
rs80132141
|
0.00343
|
|
NM_004525.3(LRP2):c.149C>G (p.Thr50Ser)
|
rs114460450
|
0.00342
|
|
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_000243.3(MEFV):c.333G>A (p.Gly111=)
|
rs61732425
|
0.00339
|
|
NM_206933.4(USH2A):c.14315C>T (p.Ser4772Phe)
|
rs149222801
|
0.00339
|
|
NM_022095.4(ZNF335):c.3488-6G>A
|
rs201983124
|
0.00338
|
|
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_001267550.2(TTN):c.10931G>A (p.Ser3644Asn)
|
rs78535378
|
0.00334
|
|
NM_018136.5(ASPM):c.6775T>C (p.Leu2259=)
|
rs140922974
|
0.00333
|
|
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)
|
rs111540787
|
0.00332
|
|
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser)
|
rs55680026
|
0.00329
|
|
NM_001283009.2(RTEL1):c.1761G>A (p.Pro587=)
|
rs116900568
|
0.00329
|
|
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)
|
rs117370446
|
0.00329
|
|
NM_206933.4(USH2A):c.4543A>G (p.Thr1515Ala)
|
rs141671082
|
0.00327
|
|
NM_001267550.2(TTN):c.9150A>G (p.Thr3050=)
|
rs72647886
|
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_002160.4(TNC):c.3286G>A (p.Ala1096Thr)
|
rs138406927
|
0.00324
|
|
NM_004525.3(LRP2):c.2933C>T (p.Thr978Met)
|
rs114842875
|
0.00322
|
|
NM_000243.3(MEFV):c.1759+8C>T
|
rs77380520
|
0.00321
|
|
NM_001367624.2(ZNF469):c.6489G>A (p.Gln2163=)
|
rs572299080
|
0.00320
|
|
NM_001384140.1(PCDH15):c.1039C>T (p.Leu347Phe)
|
rs111033436
|
0.00318
|
|
NM_001267550.2(TTN):c.32743G>C (p.Ala10915Pro)
|
rs72650032
|
0.00317
|
|
NM_001267550.2(TTN):c.25921+20G>A
|
rs148460010
|
0.00315
|
|
NM_001267550.2(TTN):c.31847-17A>G
|
rs72650025
|
0.00313
|
|
NM_001083961.2(WDR62):c.3812C>T (p.Ala1271Val)
|
rs111294536
|
0.00310
|
|
NM_001267550.2(TTN):c.15584A>G (p.Glu5195Gly)
|
rs72648931
|
0.00307
|
|
NM_001111.5(ADAR):c.2553C>T (p.Cys851=)
|
rs138927668
|
0.00304
|
|
NM_001267550.2(TTN):c.30426C>T (p.Asp10142=)
|
rs147524531
|
0.00301
|
|
NM_022095.4(ZNF335):c.103G>T (p.Val35Leu)
|
rs114356103
|
0.00300
|
|
NM_002160.4(TNC):c.6499G>A (p.Val2167Ile)
|
rs149752009
|
0.00299
|
|
NM_004525.3(LRP2):c.10937G>A (p.Arg3646His)
|
rs142549310
|
0.00298
|
|
NM_004525.3(LRP2):c.5538+10C>T
|
rs115659204
|
0.00296
|
|
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=)
|
rs55921307
|
0.00295
|
|
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu)
|
rs36024203
|
0.00293
|
|
NM_206933.4(USH2A):c.14454G>A (p.Pro4818=)
|
rs137902779
|
0.00293
|
|
NM_014363.6(SACS):c.3129A>G (p.Ser1043=)
|
rs148878361
|
0.00292
|
|
NM_022124.6(CDH23):c.2970C>T (p.Asp990=)
|
rs56216952
|
0.00289
|
|
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_004525.3(LRP2):c.2520A>G (p.Leu840=)
|
rs114780253
|
0.00285
|
|
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His)
|
rs181104321
|
0.00282
|
|
NM_004525.3(LRP2):c.92C>T (p.Ala31Val)
|
rs144829356
|
0.00280
|
|
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_000057.4(BLM):c.1928G>A (p.Arg643His)
|
rs12720097
|
0.00278
|
|
NM_018136.5(ASPM):c.9444+8T>G
|
rs140150599
|
0.00278
|
|
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_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His)
|
rs142905621
|
0.00275
|
|
NM_004525.3(LRP2):c.4924A>G (p.Ile1642Val)
|
rs144737909
|
0.00275
|
|
NM_016373.4(WWOX):c.*3G>T
|
rs140060332
|
0.00275
|
|
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val)
|
rs145207584
|
0.00275
|
|
NM_206933.4(USH2A):c.6041A>C (p.Asn2014Thr)
|
rs147883884
|
0.00275
|
|
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu)
|
rs72646840
|
0.00274
|
|
NM_016373.4(WWOX):c.1134C>T (p.Asn378=)
|
rs201088847
|
0.00274
|
|
NM_015046.7(SETX):c.2113A>C (p.Ile705Leu)
|
rs34781846
|
0.00272
|
|
NM_001267550.2(TTN):c.970C>T (p.Pro324Ser)
|
rs72647845
|
0.00265
|
|
NM_001614.5(ACTG1):c.471C>T (p.Asp157=)
|
rs11549222
|
0.00264
|
|
NM_001267550.2(TTN):c.5388T>C (p.Asp1796=)
|
rs72647878
|
0.00261
|
|
NM_001379286.1(ZNF423):c.3393C>T (p.Pro1131=)
|
rs61755180
|
0.00261
|
|
NM_206933.4(USH2A):c.6236A>C (p.Lys2079Thr)
|
rs147039836
|
0.00260
|
|
NM_001367624.2(ZNF469):c.869C>T (p.Ala290Val)
|
rs117501524
|
0.00258
|
|
NM_000337.6(SGCD):c.*158G>A
|
rs187465743
|
0.00253
|
|
NM_018136.5(ASPM):c.9996T>C (p.Thr3332=)
|
rs139927527
|
0.00253
|
|
NM_015046.7(SETX):c.*254C>T
|
rs11545230
|
0.00252
|
|
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly)
|
rs112089123
|
0.00250
|
|
NM_206933.4(USH2A):c.11404G>A (p.Glu3802Lys)
|
rs147900972
|
0.00249
|
|
NM_000023.4(SGCA):c.-8G>A
|
rs149296410
|
0.00248
|
|
NM_000243.3(MEFV):c.1587+18C>T
|
rs11466030
|
0.00248
|
|
NM_004525.3(LRP2):c.1973A>G (p.Tyr658Cys)
|
rs111360923
|
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_001171.6(ABCC6):c.1248C>T (p.Asp416=)
|
rs143487365
|
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_000337.6(SGCD):c.*8110A>C
|
rs796540027
|
0.00245
|
|
NM_000337.6(SGCD):c.699+71G>A
|
rs187204080
|
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_206933.4(USH2A):c.13404A>G (p.Arg4468=)
|
rs146994147
|
0.00245
|
|
NM_001367624.2(ZNF469):c.8694C>T (p.Gly2898=)
|
rs114884145
|
0.00244
|
|
NM_000337.6(SGCD):c.*2A>C
|
rs200757725
|
0.00241
|
|
NM_001267550.2(TTN):c.26682G>A (p.Pro8894=)
|
rs142812510
|
0.00240
|
|
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys)
|
rs35689779
|
0.00239
|
|
NM_001267550.2(TTN):c.84461C>T (p.Pro28154Leu)
|
rs200350579
|
0.00238
|
|
NM_014363.6(SACS):c.10611A>G (p.Ala3537=)
|
rs137856939
|
0.00236
|
|
NM_001111.5(ADAR):c.1003A>T (p.Ile335Phe)
|
rs34154757
|
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_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_206933.4(USH2A):c.4560C>T (p.Ile1520=)
|
rs148000219
|
0.00234
|
|
NM_015602.4(TOR1AIP1):c.70C>G (p.Pro24Ala)
|
rs146976883
|
0.00233
|
|
NM_001367624.2(ZNF469):c.6800G>A (p.Arg2267Gln)
|
rs181887079
|
0.00232
|
|
NM_001367624.2(ZNF469):c.6036G>A (p.Thr2012=)
|
rs149961653
|
0.00229
|
|
NM_015046.7(SETX):c.2401A>G (p.Lys801Glu)
|
rs149718424
|
0.00229
|
|
NM_130837.3(OPA1):c.43C>A (p.Gln15Lys)
|
rs75414918
|
0.00229
|
|
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)
|
rs61729954
|
0.00227
|
|
NM_002160.4(TNC):c.945C>T (p.Cys315=)
|
rs148465701
|
0.00226
|
|
NM_004525.3(LRP2):c.769+9G>A
|
rs148452352
|
0.00225
|
|
NM_001267550.2(TTN):c.36509A>T (p.Glu12170Val)
|
rs200840285
|
0.00224
|
|
NM_001367624.2(ZNF469):c.10327G>C (p.Gly3443Arg)
|
rs532857190
|
0.00223
|
|
NM_001367624.2(ZNF469):c.2803G>A (p.Glu935Lys)
|
rs117995699
|
0.00222
|
|
NM_004700.4(KCNQ4):c.1188C>T (p.Pro396=)
|
rs189541861
|
0.00222
|
|
NM_025132.4(WDR19):c.1915A>G (p.Ser639Gly)
|
rs150649460
|
0.00222
|
|
NM_001083961.2(WDR62):c.269+19C>T
|
rs140267028
|
0.00221
|
|
NM_001379286.1(ZNF423):c.2133G>A (p.Ser711=)
|
rs143934881
|
0.00221
|
|
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_000243.3(MEFV):c.329T>C (p.Leu110Pro)
|
rs11466018
|
0.00217
|
|
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)
|
rs144942544
|
0.00217
|
|
NM_001267550.2(TTN):c.1398+18A>G
|
rs72647849
|
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_001267550.2(TTN):c.65092C>T (p.Arg21698Cys)
|
rs72646861
|
0.00216
|
|
NM_015046.7(SETX):c.2981A>G (p.Asp994Gly)
|
rs149546633
|
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_001378454.1(ALMS1):c.8445A>G (p.Ser2815=)
|
rs137932254
|
0.00215
|
|
NM_015602.4(TOR1AIP1):c.1147G>A (p.Asp383Asn)
|
rs149690630
|
0.00215
|
|
NM_001267550.2(TTN):c.34505G>T (p.Gly11502Val)
|
rs190209925
|
0.00214
|
|
NM_001367624.2(ZNF469):c.8381C>T (p.Thr2794Met)
|
rs202188220
|
0.00214
|
|
NM_206933.4(USH2A):c.14960C>T (p.Ala4987Val)
|
rs111033498
|
0.00214
|
|
NM_000492.4(CFTR):c.2620-15C>G
|
rs139379077
|
0.00212
|
|
NM_130837.3(OPA1):c.321G>A (p.Ser107=)
|
rs117888848
|
0.00212
|
|
NM_001184.4(ATR):c.816A>G (p.Ser272=)
|
rs34685245
|
0.00211
|
|
NM_022095.4(ZNF335):c.3820-11C>T
|
rs191147826
|
0.00210
|
|
NM_001267550.2(TTN):c.54208A>C (p.Arg18070=)
|
rs138240658
|
0.00209
|
|
NM_000553.6(WRN):c.4192-39T>C
|
rs143460277
|
0.00208
|
|
NM_001267550.2(TTN):c.289G>A (p.Val97Met)
|
rs185921345
|
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_001379286.1(ZNF423):c.2013G>A (p.Ala671=)
|
rs143468235
|
0.00207
|
|
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)
|
rs34767364
|
0.00206
|
|
NM_004525.3(LRP2):c.10170-15T>G
|
rs144579935
|
0.00205
|
|
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_206933.4(USH2A):c.5932C>T (p.Pro1978Ser)
|
rs75698489
|
0.00203
|
|
NM_001267550.2(TTN):c.5231C>T (p.Pro1744Leu)
|
rs75686037
|
0.00202
|
|
NM_001267550.2(TTN):c.46693G>T (p.Ala15565Ser)
|
rs145520397
|
0.00201
|
|
NM_004525.3(LRP2):c.13685T>C (p.Val4562Ala)
|
rs142245618
|
0.00201
|
|
NM_001267550.2(TTN):c.69412+10G>C
|
rs72646883
|
0.00200
|
|
NM_004700.4(KCNQ4):c.1292+12G>A
|
rs200426006
|
0.00200
|
|
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val)
|
rs36061856
|
0.00198
|
|
NM_001267550.2(TTN):c.37247C>T (p.Ser12416Leu)
|
rs370765948
|
0.00197
|
|
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)
|
rs146451611
|
0.00197
|
|
NM_004525.3(LRP2):c.6850A>G (p.Thr2284Ala)
|
rs35413340
|
0.00196
|
|
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_153717.3(EVC):c.550G>A (p.Asp184Asn)
|
rs41269549
|
0.00194
|
|
NM_001267550.2(TTN):c.98439G>A (p.Val32813=)
|
rs368487246
|
0.00193
|
|
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly)
|
rs201167067
|
0.00192
|
|
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu)
|
rs149287302
|
0.00190
|
|
NM_001267550.2(TTN):c.66977A>G (p.Lys22326Arg)
|
rs202125813
|
0.00189
|
|
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_000337.6(SGCD):c.*2604T>C
|
rs541571525
|
0.00187
|
|
NM_001267550.2(TTN):c.85691A>T (p.Lys28564Ile)
|
rs199859344
|
0.00187
|
|
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)
|
rs183655276
|
0.00187
|
|
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln)
|
rs149304901
|
0.00187
|
|
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys)
|
rs111033255
|
0.00183
|
|
NM_001083961.2(WDR62):c.4338C>T (p.Thr1446=)
|
rs149289227
|
0.00183
|
|
NM_004525.3(LRP2):c.10233C>T (p.Phe3411=)
|
rs139363553
|
0.00183
|
|
NM_213599.3(ANO5):c.1095A>G (p.Leu365=)
|
rs35804601
|
0.00183
|
|
NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn)
|
rs184740744
|
0.00181
|
|
NM_001379286.1(ZNF423):c.312C>T (p.Asp104=)
|
rs117266679
|
0.00178
|
|
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)
|
rs140551762
|
0.00178
|
|
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn)
|
rs150673589
|
0.00178
|
|
NM_001184.4(ATR):c.2844A>C (p.Ala948=)
|
rs147286949
|
0.00177
|
|
NM_001083961.2(WDR62):c.3786C>T (p.Gly1262=)
|
rs148415080
|
0.00176
|
|
NM_001614.5(ACTG1):c.985-5T>C
|
rs370546734
|
0.00176
|
|
NM_000372.5(TYR):c.1366+4A>G
|
rs61754398
|
0.00175
|
|
NM_002160.4(TNC):c.1322A>G (p.Asn441Ser)
|
rs142220270
|
0.00174
|
|
NM_002617.4(PEX10):c.712G>C (p.Gly238Arg)
|
rs61736380
|
0.00172
|
|
NM_004525.3(LRP2):c.12725A>G (p.Asp4242Gly)
|
rs35942532
|
0.00171
|
|
NM_001083961.2(WDR62):c.2016C>T (p.Asp672=)
|
rs114968951
|
0.00170
|
|
NM_014363.6(SACS):c.2988A>G (p.Leu996=)
|
rs111846884
|
0.00170
|
|
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg)
|
rs147317123
|
0.00168
|
|
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_001614.5(ACTG1):c.803-6C>T
|
rs199600452
|
0.00164
|
|
NM_004525.3(LRP2):c.4351G>T (p.Val1451Phe)
|
rs146289506
|
0.00164
|
|
NM_000057.4(BLM):c.2268A>G (p.Lys756=)
|
rs146013879
|
0.00163
|
|
NM_018109.4(MTPAP):c.157+20C>T
|
rs191816760
|
0.00160
|
|
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_015046.7(SETX):c.5781+10G>A
|
rs537414669
|
0.00159
|
|
NM_001367624.2(ZNF469):c.8076G>A (p.Pro2692=)
|
rs149200506
|
0.00158
|
|
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His)
|
rs730254
|
0.00158
|
|
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr)
|
rs200865108
|
0.00157
|
|
NM_001267550.2(TTN):c.30598+15C>T
|
rs79685525
|
0.00156
|
|
NM_018136.5(ASPM):c.1385A>G (p.Tyr462Cys)
|
rs143294539
|
0.00155
|
|
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_004525.3(LRP2):c.9147C>T (p.Phe3049=)
|
rs146115458
|
0.00154
|
|
NM_194292.3(SASS6):c.873G>C (p.Arg291=)
|
rs61747274
|
0.00154
|
|
NM_001267550.2(TTN):c.88297G>A (p.Asp29433Asn)
|
rs189202799
|
0.00153
|
|
NM_004700.4(KCNQ4):c.1231C>T (p.Arg411Cys)
|
rs199809248
|
0.00153
|
|
NM_004525.3(LRP2):c.9477G>A (p.Met3159Ile)
|
rs144322413
|
0.00152
|
|
NM_206933.4(USH2A):c.3364T>G (p.Ser1122Ala)
|
rs148135241
|
0.00152
|
|
NM_004525.3(LRP2):c.9914G>A (p.Arg3305His)
|
rs3213760
|
0.00150
|
|
NM_001384140.1(PCDH15):c.3018G>T (p.Val1006=)
|
rs41307518
|
0.00149
|
|
NM_014363.6(SACS):c.810T>G (p.Phe270Leu)
|
rs116907814
|
0.00149
|
|
NM_001083961.2(WDR62):c.3033G>A (p.Pro1011=)
|
rs118175551
|
0.00148
|
|
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
|
NM_001267550.2(TTN):c.73336C>T (p.Leu24446=)
|
rs189768015
|
0.00146
|
|
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys)
|
rs199573929
|
0.00146
|
|
NM_000337.6(SGCD):c.*3845T>C
|
rs528838126
|
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_002485.5(NBN):c.511A>G (p.Ile171Val)
|
rs61754966
|
0.00145
|
|
NM_000372.5(TYR):c.650G>A (p.Arg217Gln)
|
rs61754365
|
0.00143
|
|
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe)
|
rs144590904
|
0.00141
|
|
NM_015046.7(SETX):c.7101A>G (p.Gly2367=)
|
rs79233884
|
0.00141
|
|
NM_206933.4(USH2A):c.10518G>A (p.Thr3506=)
|
rs114719960
|
0.00141
|
|
NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp)
|
rs143002265
|
0.00139
|
|
NM_004525.3(LRP2):c.2178G>T (p.Leu726Phe)
|
rs144451000
|
0.00139
|
|
NM_000260.4(MYO7A):c.510G>A (p.Leu170=)
|
rs34477144
|
0.00138
|
|
NM_001267550.2(TTN):c.48460+8C>T
|
rs2288565
|
0.00137
|
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
|
NM_001111.5(ADAR):c.1926T>C (p.His642=)
|
rs150171059
|
0.00135
|
|
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_014363.6(SACS):c.2983G>T (p.Val995Phe)
|
rs142967124
|
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_004525.3(LRP2):c.3110G>A (p.Arg1037Lys)
|
rs147058423
|
0.00133
|
|
NM_015378.4(VPS13D):c.5334T>A (p.Ser1778Arg)
|
rs144311414
|
0.00133
|
|
NM_001267550.2(TTN):c.58869A>G (p.Lys19623=)
|
rs191066933
|
0.00132
|
|
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr)
|
rs111920492
|
0.00131
|
|
NM_000337.6(SGCD):c.*6065A>G
|
rs183129118
|
0.00130
|
|
NM_001267550.2(TTN):c.24195C>T (p.Ser8065=)
|
rs182425565
|
0.00130
|
|
NM_001267550.2(TTN):c.1938+10G>C
|
rs190935632
|
0.00129
|
|
NM_001267550.2(TTN):c.32555-6T>C
|
rs375742678
|
0.00129
|
|
NM_206933.4(USH2A):c.2167+17A>G
|
rs181777364
|
0.00129
|
|
NM_001111.5(ADAR):c.2886-11_2886-10del
|
rs557801982
|
0.00128
|
|
NM_001267550.2(TTN):c.36285C>T (p.His12095=)
|
rs201184203
|
0.00128
|
|
NM_001614.5(ACTG1):c.18C>T (p.Ala6=)
|
rs145211830
|
0.00128
|
|
NM_000287.4(PEX6):c.1480-5C>T
|
rs376473597
|
0.00126
|
|
NM_004525.3(LRP2):c.5209C>T (p.Leu1737Phe)
|
rs149469954
|
0.00126
|
|
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_002160.4(TNC):c.61G>A (p.Glu21Lys)
|
rs141126037
|
0.00125
|
|
NM_001267550.2(TTN):c.10726A>G (p.Thr3576Ala)
|
rs6433728
|
0.00124
|
|
NM_001267550.2(TTN):c.1398+16C>T
|
rs144043280
|
0.00124
|
|
NM_153700.2(STRC):c.5200T>C (p.Trp1734Arg)
|
rs200770543
|
0.00124
|
|
NM_001267550.2(TTN):c.34453+12C>A
|
rs74930148
|
0.00123
|
|
NM_004525.3(LRP2):c.13921A>T (p.Thr4641Ser)
|
rs79179577
|
0.00123
|
|
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_001184.4(ATR):c.992A>G (p.Asp331Gly)
|
rs150008448
|
0.00120
|
|
NM_004525.3(LRP2):c.3100A>G (p.Lys1034Glu)
|
rs150395163
|
0.00120
|
|
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val)
|
rs75789129
|
0.00119
|
|
NM_018136.5(ASPM):c.1732G>A (p.Asp578Asn)
|
rs60950503
|
0.00119
|
|
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr)
|
rs187925021
|
0.00118
|
|
NM_206933.4(USH2A):c.4698G>A (p.Gln1566=)
|
rs143218330
|
0.00118
|
|
NM_206933.4(USH2A):c.6486-18G>A
|
rs370809079
|
0.00118
|
|
NM_000441.2(SLC26A4):c.535G>A (p.Ala179Thr)
|
rs114473792
|
0.00116
|
|
NM_015602.4(TOR1AIP1):c.576G>A (p.Arg192=)
|
rs146164995
|
0.00116
|
|
NM_000057.4(BLM):c.3849G>A (p.Gln1283=)
|
rs140524886
|
0.00115
|
|
NM_002160.4(TNC):c.3711G>A (p.Gly1237=)
|
rs139931208
|
0.00115
|
|
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_001184.4(ATR):c.6726T>C (p.His2242=)
|
rs56030954
|
0.00113
|
|
NM_001267550.2(TTN):c.33581-18T>C
|
rs148392677
|
0.00113
|
|
NM_001367624.2(ZNF469):c.2653C>G (p.Leu885Val)
|
rs139653501
|
0.00113
|
|
NM_153700.2(STRC):c.4917A>C (p.Leu1639=)
|
rs2860666
|
0.00112
|
|
NM_206933.4(USH2A):c.2094C>T (p.Thr698=)
|
rs141489104
|
0.00112
|
|
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser)
|
rs144873307
|
0.00111
|
|
NM_001267550.2(TTN):c.13859G>A (p.Gly4620Asp)
|
rs55857742
|
0.00111
|
|
NM_001267550.2(TTN):c.89994G>A (p.Ser29998=)
|
rs142891278
|
0.00111
|
|
NM_001267550.2(TTN):c.49371A>T (p.Leu16457=)
|
rs146163169
|
0.00110
|
|
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_004525.3(LRP2):c.391A>G (p.Arg131Gly)
|
rs34592807
|
0.00109
|
|
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=)
|
rs140034972
|
0.00109
|
|
NM_213599.3(ANO5):c.2521-7C>T
|
rs201438159
|
0.00109
|
|
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.95148C>T (p.Thr31716=)
|
rs140663434
|
0.00108
|
|
NM_004525.3(LRP2):c.5395-12C>G
|
rs141206999
|
0.00108
|
|
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_001614.5(ACTG1):c.72C>T (p.Asp24=)
|
rs139517777
|
0.00107
|
|
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)
|
rs34988750
|
0.00107
|
|
NM_000337.6(SGCD):c.144G>C (p.Val48=)
|
rs372152495
|
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_001184.4(ATR):c.2637C>T (p.Ala879=)
|
rs150512706
|
0.00105
|
|
NM_018136.5(ASPM):c.-9G>T
|
rs141108591
|
0.00105
|
|
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_000277.3(PAH):c.*19G>T
|
rs372637021
|
0.00103
|
|
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr)
|
rs61752878
|
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_001367624.2(ZNF469):c.10518G>A (p.Pro3506=)
|
rs376379111
|
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_206933.4(USH2A):c.2256T>C (p.His752=)
|
rs111033281
|
0.00103
|
|
NM_001083961.2(WDR62):c.3231C>T (p.Pro1077=)
|
rs187029707
|
0.00102
|
|
NM_001267550.2(TTN):c.49998T>C (p.Asn16666=)
|
rs376917681
|
0.00102
|
|
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr)
|
rs142278066
|
0.00102
|
|
NM_002160.4(TNC):c.2490C>T (p.Ile830=)
|
rs145321605
|
0.00102
|
|
NM_016373.4(WWOX):c.888C>G (p.Ser296=)
|
rs3764341
|
0.00102
|
|
NM_001111.5(ADAR):c.1935-19G>A
|
rs200651742
|
0.00101
|
|
NM_001184.4(ATR):c.4200A>T (p.Leu1400=)
|
rs150562945
|
0.00101
|
|
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_004525.3(LRP2):c.2603C>G (p.Thr868Ser)
|
rs150752263
|
0.00100
|
|
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_014363.6(SACS):c.4015A>C (p.Ile1339Leu)
|
rs143144795
|
0.00099
|
|
NM_014363.6(SACS):c.9852A>G (p.Thr3284=)
|
rs147506904
|
0.00099
|
|
NM_002160.4(TNC):c.5223G>A (p.Arg1741=)
|
rs62638694
|
0.00098
|
|
NM_004525.3(LRP2):c.6176C>T (p.Ser2059Phe)
|
rs148299415
|
0.00098
|
|
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile)
|
rs150981983
|
0.00097
|
|
NM_206933.4(USH2A):c.3158-7A>G
|
rs201558076
|
0.00097
|
|
NM_000337.6(SGCD):c.*8356T>A
|
rs576236693
|
0.00096
|
|
NM_000372.5(TYR):c.665T>C (p.Ile222Thr)
|
rs34878847
|
0.00096
|
|
NM_018136.5(ASPM):c.5452C>T (p.Arg1818Cys)
|
rs41299625
|
0.00095
|
|
NM_004525.3(LRP2):c.12462-13C>T
|
rs139211353
|
0.00094
|
|
NM_001267550.2(TTN):c.80661C>T (p.Asn26887=)
|
rs201069672
|
0.00093
|
|
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_000277.3(PAH):c.158G>A (p.Arg53His)
|
rs118092776
|
0.00091
|
|
NM_001267550.2(TTN):c.60821C>T (p.Pro20274Leu)
|
rs72646845
|
0.00091
|
|
NM_004525.3(LRP2):c.4831C>T (p.Leu1611=)
|
rs151079411
|
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_001184.4(ATR):c.7632T>A (p.Arg2544=)
|
rs144427735
|
0.00090
|
|
NM_001267550.2(TTN):c.25351+13C>G
|
rs138362885
|
0.00090
|
|
NM_000553.6(WRN):c.2500C>T (p.Arg834Cys)
|
rs3087425
|
0.00089
|
|
NM_001267550.2(TTN):c.15906C>T (p.Val5302=)
|
rs375179152
|
0.00089
|
|
NM_004525.3(LRP2):c.6858T>A (p.Phe2286Leu)
|
rs140918583
|
0.00089
|
|
NM_004525.3(LRP2):c.9311G>A (p.Ser3104Asn)
|
rs139523655
|
0.00089
|
|
NM_001267550.2(TTN):c.18531G>C (p.Val6177=)
|
rs370684491
|
0.00088
|
|
NM_001267550.2(TTN):c.41010T>C (p.Asp13670=)
|
rs193191368
|
0.00088
|
|
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_014363.6(SACS):c.12813T>G (p.Pro4271=)
|
rs146376949
|
0.00087
|
|
NM_018136.5(ASPM):c.2420-20G>A
|
rs191404122
|
0.00087
|
|
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_206933.4(USH2A):c.6628C>G (p.Pro2210Ala)
|
rs192115090
|
0.00086
|
|
NM_001367624.2(ZNF469):c.946G>A (p.Glu316Lys)
|
rs368772806
|
0.00085
|
|
NM_004700.4(KCNQ4):c.972G>A (p.Leu324=)
|
rs137896524
|
0.00085
|
|
NM_153700.2(STRC):c.3218G>A (p.Arg1073Gln)
|
rs727503449
|
0.00085
|
|
NM_000337.6(SGCD):c.*4993A>C
|
rs62382385
|
0.00084
|
|
NM_004525.3(LRP2):c.987G>A (p.Ala329=)
|
rs141751667
|
0.00084
|
|
NM_014363.6(SACS):c.1917A>G (p.Ala639=)
|
rs138457742
|
0.00084
|
|
NM_014363.6(SACS):c.8972G>A (p.Arg2991His)
|
rs192610957
|
0.00084
|
|
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)
|
rs111033243
|
0.00083
|
|
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)
|
rs35516286
|
0.00083
|
|
NM_001267550.2(TTN):c.25223C>T (p.Thr8408Ile)
|
rs201432372
|
0.00083
|
|
NM_004525.3(LRP2):c.9650A>G (p.Tyr3217Cys)
|
rs143150497
|
0.00083
|
|
NM_016373.4(WWOX):c.1141C>T (p.Arg381Cys)
|
rs200461412
|
0.00083
|
|
NM_001184.4(ATR):c.195C>T (p.Ser65=)
|
rs139304565
|
0.00082
|
|
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile)
|
rs72649002
|
0.00082
|
|
NM_004700.4(KCNQ4):c.465A>C (p.Gly155=)
|
rs145129529
|
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_206933.4(USH2A):c.14754G>A (p.Thr4918=)
|
rs150286388
|
0.00081
|
|
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)
|
rs41302239
|
0.00081
|
|
NM_001267550.2(TTN):c.32807-10T>A
|
rs138192315
|
0.00080
|
|
NM_001367624.2(ZNF469):c.2035G>A (p.Glu679Lys)
|
rs551591362
|
0.00080
|
|
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)
|
rs35818432
|
0.00080
|
|
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.88476C>G (p.Thr29492=)
|
rs190406444
|
0.00079
|
|
NM_001184.4(ATR):c.5987T>C (p.Met1996Thr)
|
rs150339560
|
0.00078
|
|
NM_001267550.2(TTN):c.54812-5A>G
|
rs375343798
|
0.00078
|
|
NM_001614.5(ACTG1):c.877C>T (p.Leu293=)
|
rs143205514
|
0.00078
|
|
NM_004525.3(LRP2):c.6160G>A (p.Asp2054Asn)
|
rs138269726
|
0.00078
|
|
NM_004525.3(LRP2):c.8070G>A (p.Lys2690=)
|
rs144284604
|
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_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)
|
rs111033212
|
0.00077
|
|
NM_001267550.2(TTN):c.15860C>T (p.Thr5287Met)
|
rs148551876
|
0.00076
|
|
NM_015046.7(SETX):c.717A>G (p.Leu239=)
|
rs147125311
|
0.00076
|
|
NM_025132.4(WDR19):c.3261+12G>A
|
rs137960733
|
0.00076
|
|
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro)
|
rs141137543
|
0.00075
|
|
NM_014363.6(SACS):c.2146C>T (p.His716Tyr)
|
rs146852400
|
0.00075
|
|
NM_000441.2(SLC26A4):c.1616T>C (p.Ile539Thr)
|
rs146269871
|
0.00074
|
|
NM_001267550.2(TTN):c.55929A>G (p.Gln18643=)
|
rs151335428
|
0.00074
|
|
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn)
|
rs146923842
|
0.00073
|
|
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His)
|
rs200641606
|
0.00073
|
|
NM_004525.3(LRP2):c.3311A>G (p.His1104Arg)
|
rs144906000
|
0.00073
|
|
NM_025114.4(CEP290):c.341G>A (p.Arg114His)
|
rs150296134
|
0.00073
|
|
NM_001267550.2(TTN):c.82081C>G (p.Pro27361Ala)
|
rs56137800
|
0.00072
|
|
NM_001267550.2(TTN):c.1246-16G>A
|
rs72647847
|
0.00071
|
|
NM_001267550.2(TTN):c.44529C>T (p.His14843=)
|
rs55973744
|
0.00071
|
|
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr)
|
rs149638449
|
0.00071
|
|
NM_001267550.2(TTN):c.30224-8T>G
|
rs72650010
|
0.00070
|
|
NM_004525.3(LRP2):c.1176C>T (p.Gly392=)
|
rs369145798
|
0.00070
|
|
NM_014363.6(SACS):c.10668G>A (p.Leu3556=)
|
rs139517699
|
0.00070
|
|
NM_206933.4(USH2A):c.5409C>G (p.Val1803=)
|
rs140326085
|
0.00070
|
|
NM_000553.6(WRN):c.3237G>A (p.Ser1079=)
|
rs11574345
|
0.00069
|
|
NM_001184.4(ATR):c.5931A>G (p.Gln1977=)
|
rs150964938
|
0.00069
|
|
NM_004525.3(LRP2):c.6938C>T (p.Pro2313Leu)
|
rs73035708
|
0.00069
|
|
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)
|
rs121909034
|
0.00068
|
|
NM_015602.4(TOR1AIP1):c.428C>T (p.Ser143Phe)
|
rs141391430
|
0.00068
|
|
NM_014363.6(SACS):c.2234G>A (p.Arg745His)
|
rs143677534
|
0.00067
|
|
NM_016373.4(WWOX):c.807C>T (p.Asn269=)
|
rs62034095
|
0.00067
|
|
NM_153717.3(EVC):c.2322G>C (p.Ala774=)
|
rs150373930
|
0.00067
|
|
NM_206933.4(USH2A):c.14322C>T (p.Ser4774=)
|
rs147037435
|
0.00067
|
|
NM_001267550.2(TTN):c.40927+16C>T
|
rs369965589
|
0.00065
|
|
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly)
|
rs201390755
|
0.00065
|
|
NM_004525.3(LRP2):c.4803C>T (p.Cys1601=)
|
rs141068435
|
0.00065
|
|
NM_025132.4(WDR19):c.3416A>G (p.Gln1139Arg)
|
rs75621037
|
0.00065
|
|
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)
|
rs33947415
|
0.00064
|
|
NM_206933.4(USH2A):c.5142T>C (p.Asn1714=)
|
rs143546878
|
0.00064
|
|
NM_001267550.2(TTN):c.19191G>A (p.Thr6397=)
|
rs140495148
|
0.00063
|
|
NM_004525.3(LRP2):c.7747G>A (p.Val2583Met)
|
rs145201961
|
0.00063
|
|
NM_016373.4(WWOX):c.468G>T (p.Arg156Ser)
|
rs140817689
|
0.00063
|
|
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=)
|
rs146819206
|
0.00063
|
|
NM_001184.4(ATR):c.5601T>C (p.Leu1867=)
|
rs138891875
|
0.00062
|
|
NM_004525.3(LRP2):c.11264-14C>G
|
rs377424162
|
0.00062
|
|
NM_000543.5(SMPD1):c.340G>A (p.Val114Met)
|
rs142215226
|
0.00061
|
|
NM_001267550.2(TTN):c.17115C>T (p.Gly5705=)
|
rs370036981
|
0.00061
|
|
NM_001267550.2(TTN):c.9703+17T>A
|
rs377693857
|
0.00061
|
|
NM_001614.5(ACTG1):c.363+5G>A
|
rs116329164
|
0.00061
|
|
NM_014363.6(SACS):c.13344C>T (p.Arg4448=)
|
rs200157359
|
0.00061
|
|
NM_018136.5(ASPM):c.9492T>C (p.Tyr3164=)
|
rs143931757
|
0.00061
|
|
NM_206933.4(USH2A):c.6924A>G (p.Ala2308=)
|
rs148504065
|
0.00061
|
|
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)
|
rs143486492
|
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_002485.5(NBN):c.1777C>G (p.Pro593Ala)
|
rs146989944
|
0.00059
|
|
NM_002485.5(NBN):c.788T>C (p.Phe263Ser)
|
rs147626427
|
0.00059
|
|
NM_003319.4(TTN):c.19502-5A>G
|
rs182706301
|
0.00059
|
|
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)
|
rs202052174
|
0.00059
|
|
NM_001184.4(ATR):c.3424A>G (p.Ser1142Gly)
|
rs149008479
|
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_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
|
NM_000337.6(SGCD):c.*4608G>A
|
rs541428502
|
0.00057
|
|
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys)
|
rs191482653
|
0.00057
|
|
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His)
|
rs201252809
|
0.00057
|
|
NM_206933.4(USH2A):c.3531T>C (p.Gly1177=)
|
rs149570469
|
0.00057
|
|
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser)
|
rs35130237
|
0.00056
|
|
NM_000337.6(SGCD):c.*6833G>A
|
rs137998497
|
0.00056
|
|
NM_000492.4(CFTR):c.2245C>T (p.Leu749=)
|
rs151235408
|
0.00056
|
|
NM_001267550.2(TTN):c.32011+10C>G
|
rs192002980
|
0.00056
|
|
NM_001267550.2(TTN):c.58155C>A (p.Pro19385=)
|
rs373587801
|
0.00056
|
|
NM_004525.3(LRP2):c.3364A>G (p.Ile1122Val)
|
rs149853330
|
0.00056
|
|
NM_014363.6(SACS):c.7165G>A (p.Val2389Met)
|
rs142869943
|
0.00056
|
|
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg)
|
rs141103838
|
0.00056
|
|
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)
|
rs148660051
|
0.00056
|
|
NM_206933.4(USH2A):c.1961T>C (p.Leu654Pro)
|
rs1321779316
|
0.00056
|
|
NM_206933.4(USH2A):c.4758+3A>G
|
rs117798425
|
0.00056
|
|
NM_001267550.2(TTN):c.44548+9A>G
|
rs372725070
|
0.00055
|
|
NM_004525.3(LRP2):c.10165A>G (p.Ile3389Val)
|
rs140272085
|
0.00055
|
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
|
NM_001267550.2(TTN):c.63876C>T (p.Asn21292=)
|
rs199598302
|
0.00054
|
|
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser)
|
rs111033363
|
0.00054
|
|
NM_014363.6(SACS):c.2186-4A>G
|
rs371866995
|
0.00054
|
|
NM_018136.5(ASPM):c.4496G>T (p.Arg1499Leu)
|
rs140119882
|
0.00054
|
|
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)
|
rs201988582
|
0.00054
|
|
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr)
|
rs111033533
|
0.00054
|
|
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_001614.5(ACTG1):c.1017G>C (p.Val339=)
|
rs111305526
|
0.00053
|
|
NM_001614.5(ACTG1):c.774G>A (p.Pro258=)
|
rs61997068
|
0.00053
|
|
NM_015046.7(SETX):c.3336T>C (p.Ala1112=)
|
rs150687078
|
0.00053
|
|
NM_001367624.2(ZNF469):c.9555C>G (p.Ala3185=)
|
rs273585636
|
0.00052
|
|
NM_213599.3(ANO5):c.2029+19T>G
|
rs374035760
|
0.00052
|
|
NM_000372.5(TYR):c.1037-7T>A
|
rs61754381
|
0.00051
|
|
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)
|
rs61754388
|
0.00051
|
|
NM_000372.5(TYR):c.504C>T (p.Asn168=)
|
rs148813091
|
0.00051
|
|
NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr)
|
rs200102493
|
0.00051
|
|
NM_001384140.1(PCDH15):c.2581G>A (p.Val861Met)
|
rs142512524
|
0.00051
|
|
NM_004525.3(LRP2):c.9234C>T (p.His3078=)
|
rs116975392
|
0.00051
|
|
NM_153717.3(EVC):c.569G>T (p.Arg190Leu)
|
rs113002470
|
0.00051
|
|
NM_206933.4(USH2A):c.10741-8G>A
|
rs369968349
|
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_001130987.2(DYSF):c.2020A>G (p.Lys674Glu)
|
rs139754493
|
0.00050
|
|
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys)
|
rs145771342
|
0.00050
|
|
NM_001367624.2(ZNF469):c.5537C>T (p.Thr1846Met)
|
rs539550777
|
0.00049
|
|
NM_004525.3(LRP2):c.13610A>C (p.Gln4537Pro)
|
rs188918037
|
0.00049
|
|
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met)
|
rs142381713
|
0.00049
|
|
NM_206933.4(USH2A):c.8805C>T (p.Val2935=)
|
rs111033534
|
0.00049
|
|
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=)
|
rs72646876
|
0.00048
|
|
NM_001614.5(ACTG1):c.105C>T (p.Val35=)
|
rs11549193
|
0.00048
|
|
NM_022124.6(CDH23):c.1078C>T (p.Leu360=)
|
rs185917383
|
0.00048
|
|
NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg)
|
rs139278612
|
0.00048
|
|
NM_206933.4(USH2A):c.2052A>G (p.Gln684=)
|
rs111033248
|
0.00048
|
|
NM_000243.3(MEFV):c.1151T>C (p.Leu384Pro)
|
rs139313647
|
0.00047
|
|
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=)
|
rs202017608
|
0.00047
|
|
NM_002485.5(NBN):c.628G>T (p.Val210Phe)
|
rs61754796
|
0.00047
|
|
NM_004525.3(LRP2):c.7866C>T (p.Asp2622=)
|
rs139514301
|
0.00047
|
|
NM_014363.6(SACS):c.10443C>G (p.Leu3481=)
|
rs144087359
|
0.00047
|
|
NM_206933.4(USH2A):c.9258+15T>C
|
rs181894778
|
0.00047
|
|
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)
|
rs28933693
|
0.00046
|
|
NM_000337.6(SGCD):c.*5591G>A
|
rs746078886
|
0.00046
|
|
NM_000492.4(CFTR):c.274-6T>C
|
rs371315549
|
0.00046
|
|
NM_000492.4(CFTR):c.601G>A (p.Val201Met)
|
rs138338446
|
0.00046
|
|
NM_001267550.2(TTN):c.47955A>G (p.Pro15985=)
|
rs192953152
|
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_000441.2(SLC26A4):c.*51T>C
|
rs371263685
|
0.00045
|
|
NM_000492.4(CFTR):c.509G>A (p.Arg170His)
|
rs1800079
|
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_002485.5(NBN):c.-26G>A
|
rs201392451
|
0.00045
|
|
NM_004525.3(LRP2):c.11288A>T (p.Glu3763Val)
|
rs200475391
|
0.00045
|
|
NM_004525.3(LRP2):c.8901C>G (p.Pro2967=)
|
rs145179638
|
0.00045
|
|
NM_001267550.2(TTN):c.99345T>G (p.Gly33115=)
|
rs56398525
|
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_004525.3(LRP2):c.2320+9G>A
|
rs368933798
|
0.00044
|
|
NM_001267550.2(TTN):c.34856-17A>G
|
rs188686309
|
0.00043
|
|
NM_004525.3(LRP2):c.6553C>T (p.Leu2185Phe)
|
rs143884041
|
0.00043
|
|
NM_014363.6(SACS):c.2497G>A (p.Glu833Lys)
|
rs143433500
|
0.00043
|
|
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys)
|
rs146264950
|
0.00043
|
|
NM_001111.5(ADAR):c.3523A>C (p.Arg1175=)
|
rs146625055
|
0.00042
|
|
NM_001184.4(ATR):c.4615G>A (p.Gly1539Ser)
|
rs138350940
|
0.00042
|
|
NM_000441.2(SLC26A4):c.2059G>T (p.Asp687Tyr)
|
rs35548413
|
0.00041
|
|
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00041
|
|
NM_001184.4(ATR):c.4351C>T (p.Arg1451Trp)
|
rs148064542
|
0.00041
|
|
NM_001184.4(ATR):c.7411C>T (p.Leu2471=)
|
rs150286172
|
0.00041
|
|
NM_001267550.2(TTN):c.94464T>C (p.Ala31488=)
|
rs138888307
|
0.00041
|
|
NM_004525.3(LRP2):c.12421G>A (p.Val4141Ile)
|
rs150382715
|
0.00041
|
|
NM_004700.4(KCNQ4):c.1413T>C (p.Gly471=)
|
rs144810195
|
0.00041
|
|
NM_004700.4(KCNQ4):c.946-12C>G
|
rs146802754
|
0.00041
|
|
NM_015602.4(TOR1AIP1):c.531_532insTCA (p.Val177_Arg178insSer)
|
rs145521179
|
0.00041
|
|
NM_153700.2(STRC):c.3460C>T (p.Arg1154Ter)
|
rs576724182
|
0.00041
|
|
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr)
|
rs201386642
|
0.00040
|
|
NM_004525.3(LRP2):c.6048C>T (p.Ala2016=)
|
rs144449508
|
0.00040
|
|
NM_014363.6(SACS):c.2602A>G (p.Ile868Val)
|
rs142284018
|
0.00040
|
|
NM_018136.5(ASPM):c.1740C>G (p.Ser580Arg)
|
rs147457270
|
0.00040
|
|
NM_206933.4(USH2A):c.9340C>T (p.Pro3114Ser)
|
rs201071654
|
0.00040
|
|
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)
|
rs201697532
|
0.00039
|
|
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val)
|
rs111033303
|
0.00039
|
|
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)
|
rs121908759
|
0.00039
|
|
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)
|
rs150212784
|
0.00039
|
|
NM_001111.5(ADAR):c.772G>A (p.Gly258Arg)
|
rs201143561
|
0.00039
|
|
NM_004525.3(LRP2):c.9363C>T (p.Gly3121=)
|
rs146783211
|
0.00039
|
|
NM_206933.4(USH2A):c.7595A>C (p.Lys2532Thr)
|
rs112273610
|
0.00039
|
|
NM_000337.6(SGCD):c.*440G>A
|
rs535200914
|
0.00038
|
|
NM_000492.4(CFTR):c.2620-6T>C
|
rs371315682
|
0.00038
|
|
NM_001267550.2(TTN):c.69231T>C (p.Leu23077=)
|
rs12615797
|
0.00038
|
|
NM_018136.5(ASPM):c.581C>A (p.Ala194Asp)
|
rs141532484
|
0.00038
|
|
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=)
|
rs143737660
|
0.00038
|
|
NM_206933.4(USH2A):c.6930G>A (p.Thr2310=)
|
rs146406377
|
0.00038
|
|
NM_000441.2(SLC26A4):c.441G>A (p.Met147Ile)
|
rs201905280
|
0.00037
|
|
NM_001171.6(ABCC6):c.2848G>A (p.Ala950Thr)
|
rs72657689
|
0.00037
|
|
NM_001184.4(ATR):c.6023G>T (p.Arg2008Leu)
|
rs145569221
|
0.00037
|
|
NM_001267550.2(TTN):c.12024C>T (p.Leu4008=)
|
rs371694842
|
0.00037
|
|
NM_015046.7(SETX):c.1693T>C (p.Phe565Leu)
|
rs143982186
|
0.00037
|
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
|
NM_000492.4(CFTR):c.1920T>C (p.Phe640=)
|
rs145877746
|
0.00036
|
|
NM_001184.4(ATR):c.3372A>G (p.Gln1124=)
|
rs142903351
|
0.00036
|
|
NM_001184.4(ATR):c.4405A>G (p.Thr1469Ala)
|
rs78895258
|
0.00036
|
|
NM_014363.6(SACS):c.1278A>T (p.Leu426Phe)
|
rs138413501
|
0.00036
|
|
NM_206933.4(USH2A):c.5751C>T (p.Tyr1917=)
|
rs145742052
|
0.00036
|
|
NM_000092.5(COL4A4):c.2877C>T (p.Pro959=)
|
rs79470996
|
0.00035
|
|
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)
|
rs80338848
|
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_014363.6(SACS):c.3144A>G (p.Val1048=)
|
rs3751369
|
0.00035
|
|
NM_015602.4(TOR1AIP1):c.965-10del
|
rs769057969
|
0.00035
|
|
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys)
|
rs41281336
|
0.00035
|
|
NM_000243.3(MEFV):c.1344A>C (p.Ala448=)
|
rs143337771
|
0.00034
|
|
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)
|
rs5030853
|
0.00034
|
|
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)
|
rs147422190
|
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_001267550.2(TTN):c.55449C>T (p.Pro18483=)
|
rs187366691
|
0.00034
|
|
NM_001267550.2(TTN):c.99866-10C>T
|
rs773128928
|
0.00034
|
|
NM_004525.3(LRP2):c.11322G>A (p.Ser3774=)
|
rs141727314
|
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_017739.4(POMGNT1):c.1539+1G>A
|
rs138642840
|
0.00034
|
|
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln)
|
rs111033409
|
0.00034
|
|
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)
|
rs75541969
|
0.00033
|
|
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln)
|
rs145272777
|
0.00033
|
|
NM_002485.5(NBN):c.425A>G (p.Asn142Ser)
|
rs769414
|
0.00033
|
|
NM_000243.3(MEFV):c.926C>T (p.Thr309Met)
|
rs104895155
|
0.00032
|
|
NM_001267550.2(TTN):c.9789C>T (p.Ser3263=)
|
rs138313387
|
0.00032
|
|
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr)
|
rs190617851
|
0.00032
|
|
NM_014363.6(SACS):c.7725A>T (p.Ile2575=)
|
rs200735789
|
0.00032
|
|
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly)
|
rs192259143
|
0.00032
|
|
NM_000260.4(MYO7A):c.448C>A (p.Arg150=)
|
rs121965079
|
0.00031
|
|
NM_000441.1(SLC26A4):c.-189A>T
|
rs111033440
|
0.00031
|
|
NM_000492.4(CFTR):c.2079T>G (p.Phe693Leu)
|
rs145540754
|
0.00031
|
|
NM_001267550.2(TTN):c.14898T>C (p.Ala4966=)
|
rs370105333
|
0.00031
|
|
NM_004525.3(LRP2):c.1731G>A (p.Arg577=)
|
rs142698246
|
0.00031
|
|
NM_014363.6(SACS):c.10008A>G (p.Lys3336=)
|
rs148971954
|
0.00031
|
|
NM_014363.6(SACS):c.2580A>G (p.Gln860=)
|
rs41283958
|
0.00031
|
|
NM_015046.7(SETX):c.2955G>A (p.Ser985=)
|
rs201251074
|
0.00031
|
|
NM_018136.5(ASPM):c.2267A>G (p.Tyr756Cys)
|
rs201066146
|
0.00031
|
|
NM_018136.5(ASPM):c.2968G>A (p.Asp990Asn)
|
rs142537154
|
0.00031
|
|
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro)
|
rs143275144
|
0.00031
|
|
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp)
|
rs145278250
|
0.00031
|
|
NM_000337.6(SGCD):c.*6186C>T
|
rs559185520
|
0.00030
|
|
NM_000441.2(SLC26A4):c.2211G>C (p.Glu737Asp)
|
rs200664061
|
0.00030
|
|
NM_001267550.2(TTN):c.39057G>A (p.Pro13019=)
|
rs371945519
|
0.00030
|
|
NM_004525.3(LRP2):c.3551-9C>A
|
rs373882047
|
0.00030
|
|
NM_014363.6(SACS):c.3042A>G (p.Leu1014=)
|
rs141982796
|
0.00030
|
|
NM_018136.5(ASPM):c.1304C>T (p.Ser435Leu)
|
rs150684410
|
0.00030
|
|
NM_206933.4(USH2A):c.9495T>C (p.Asp3165=)
|
rs41305094
|
0.00030
|
|
NM_000243.3(MEFV):c.1827C>G (p.Pro609=)
|
rs104895135
|
0.00029
|
|
NM_000243.3(MEFV):c.231C>A (p.Ile77=)
|
rs139899201
|
0.00029
|
|
NM_000277.3(PAH):c.688G>A (p.Val230Ile)
|
rs62516152
|
0.00029
|
|
NM_000372.5(TYR):c.140G>A (p.Gly47Asp)
|
rs61753180
|
0.00029
|
|
NM_000372.5(TYR):c.649C>T (p.Arg217Trp)
|
rs63159160
|
0.00029
|
|
NM_000441.2(SLC26A4):c.1001+1G>A
|
rs80338849
|
0.00029
|
|
NM_000441.2(SLC26A4):c.872G>A (p.Arg291Gln)
|
rs138816005
|
0.00029
|
|
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)
|
rs113993959
|
0.00029
|
|
NM_001184.4(ATR):c.325C>T (p.Arg109Trp)
|
rs146405935
|
0.00029
|
|
NM_001184.4(ATR):c.3581+5A>G
|
rs369917154
|
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_001614.5(ACTG1):c.126C>T (p.Gly42=)
|
rs11549197
|
0.00029
|
|
NM_006019.4(TCIRG1):c.2163C>T (p.Ile721=)
|
rs145718040
|
0.00029
|
|
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu)
|
rs137905181
|
0.00029
|
|
NM_018136.5(ASPM):c.1141G>T (p.Asp381Tyr)
|
rs147055570
|
0.00029
|
|
NM_018136.5(ASPM):c.4897C>T (p.Arg1633Cys)
|
rs200202166
|
0.00029
|
|
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val)
|
rs201475055
|
0.00029
|
|
NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu)
|
rs150597050
|
0.00029
|
|
NM_000337.6(SGCD):c.*7559G>C
|
rs751653849
|
0.00028
|
|
NM_001267550.2(TTN):c.38378A>G (p.Lys12793Arg)
|
rs189389531
|
0.00028
|
|
NM_001614.5(ACTG1):c.1113C>T (p.His371=)
|
rs117765323
|
0.00028
|
|
NM_018136.5(ASPM):c.9006A>G (p.Ala3002=)
|
rs143760252
|
0.00028
|
|
NM_000023.4(SGCA):c.662G>A (p.Arg221His)
|
rs138254713
|
0.00027
|
|
NM_000337.6(SGCD):c.*2797A>T
|
rs771116351
|
0.00027
|
|
NM_000337.6(SGCD):c.193-17T>G
|
rs201079829
|
0.00027
|
|
NM_000441.2(SLC26A4):c.-3-2A>G
|
rs397516411
|
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_206933.4(USH2A):c.8357T>C (p.Phe2786Ser)
|
rs111033262
|
0.00027
|
|
NM_000023.4(SGCA):c.115A>G (p.Thr39Ala)
|
rs540292629
|
0.00026
|
|
NM_000057.4(BLM):c.191A>T (p.Asp64Val)
|
rs140382474
|
0.00026
|
|
NM_000317.3(PTS):c.195T>C (p.Pro65=)
|
rs143472856
|
0.00026
|
|
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr)
|
rs141723617
|
0.00026
|
|
NM_001267550.2(TTN):c.25809G>A (p.Ser8603=)
|
rs369099681
|
0.00026
|
|
NM_001267550.2(TTN):c.79941A>G (p.Gln26647=)
|
rs72648208
|
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_004700.4(KCNQ4):c.1259G>A (p.Arg420Gln)
|
rs374078257
|
0.00026
|
|
NM_014363.6(SACS):c.12438G>A (p.Ser4146=)
|
rs150959878
|
0.00026
|
|
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr)
|
rs144688588
|
0.00026
|
|
NM_206933.4(USH2A):c.10374G>A (p.Thr3458=)
|
rs137963595
|
0.00026
|
|
NM_206933.4(USH2A):c.6001C>T (p.Arg2001Cys)
|
rs141539554
|
0.00026
|
|
NM_000492.4(CFTR):c.846A>T (p.Glu282Asp)
|
rs142864834
|
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_002485.5(NBN):c.1405G>T (p.Asp469Tyr)
|
rs148205441
|
0.00025
|
|
NM_004700.4(KCNQ4):c.438G>A (p.Glu146=)
|
rs144434662
|
0.00025
|
|
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val)
|
rs370762269
|
0.00025
|
|
NM_206933.4(USH2A):c.10490A>G (p.Asp3497Gly)
|
rs146569216
|
0.00025
|
|
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg)
|
rs201131924
|
0.00024
|
|
NM_000243.3(MEFV):c.1677C>T (p.Leu559=)
|
rs144672997
|
0.00024
|
|
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met)
|
rs140559111
|
0.00024
|
|
NM_001184.4(ATR):c.4267-12A>G
|
rs374421247
|
0.00024
|
|
NM_001267550.2(TTN):c.15552C>T (p.Thr5184=)
|
rs146353237
|
0.00024
|
|
NM_004525.3(LRP2):c.5107C>T (p.Pro1703Ser)
|
rs141260047
|
0.00024
|
|
NM_014363.6(SACS):c.8577C>T (p.His2859=)
|
rs140016265
|
0.00024
|
|
NM_015046.7(SETX):c.5346C>T (p.Ala1782=)
|
rs115071007
|
0.00024
|
|
NM_206933.4(USH2A):c.13563T>C (p.Pro4521=)
|
rs139701970
|
0.00024
|
|
NM_206933.4(USH2A):c.4335T>C (p.Thr1445=)
|
rs397518016
|
0.00024
|
|
NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys)
|
rs201839693
|
0.00023
|
|
NM_000277.3(PAH):c.1161C>T (p.Tyr387=)
|
rs149595475
|
0.00023
|
|
NM_000277.3(PAH):c.165T>G (p.Phe55Leu)
|
rs199475598
|
0.00023
|
|
NM_001184.4(ATR):c.117A>G (p.Gln39=)
|
rs56297030
|
0.00023
|
|
NM_001614.5(ACTG1):c.546C>T (p.Gly182=)
|
rs61997063
|
0.00023
|
|
NM_004700.4(KCNQ4):c.1572C>T (p.Asp524=)
|
rs568177070
|
0.00023
|
|
NM_000372.5(TYR):c.1446G>C (p.Ala482=)
|
rs3913543
|
0.00022
|
|
NM_000492.4(CFTR):c.221G>A (p.Arg74Gln)
|
rs142540482
|
0.00022
|
|
NM_001111.5(ADAR):c.1229A>G (p.Glu410Gly)
|
rs145652884
|
0.00022
|
|
NM_001184.4(ATR):c.7817G>A (p.Arg2606Gln)
|
rs199948706
|
0.00022
|
|
NM_004525.3(LRP2):c.9040C>T (p.Arg3014Trp)
|
rs142093111
|
0.00022
|
|
NM_006432.5(NPC2):c.271G>A (p.Asp91Asn)
|
rs148607507
|
0.00022
|
|
NM_014363.6(SACS):c.1519A>G (p.Thr507Ala)
|
rs372022664
|
0.00022
|
|
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr)
|
rs147949881
|
0.00022
|
|
NM_152618.3(BBS12):c.1499T>C (p.Val500Ala)
|
rs145392789
|
0.00022
|
|
NM_174878.3(CLRN1):c.*1038G>A
|
rs201534956
|
0.00022
|
|
NM_206933.4(USH2A):c.7717C>T (p.Arg2573Cys)
|
rs140983855
|
0.00022
|
|
NM_206933.4(USH2A):c.8609C>T (p.Pro2870Leu)
|
rs200802261
|
0.00022
|
|
NM_000019.4(ACAT1):c.816G>T (p.Gln272His)
|
rs139120939
|
0.00021
|
|
NM_000243.3(MEFV):c.1795A>G (p.Asn599Asp)
|
rs104895210
|
0.00021
|
|
NM_000337.6(SGCD):c.*5337G>A
|
rs144968734
|
0.00021
|
|
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro)
|
rs28939086
|
0.00021
|
|
NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala)
|
rs201434579
|
0.00021
|
|
NM_001184.4(ATR):c.5257A>G (p.Ile1753Val)
|
rs143806447
|
0.00021
|
|
NM_001614.5(ACTG1):c.345C>T (p.Asn115=)
|
rs149057480
|
0.00021
|
|
NM_002485.5(NBN):c.786C>A (p.Phe262Leu)
|
rs372159380
|
0.00021
|
|
NM_004525.3(LRP2):c.3128A>G (p.Tyr1043Cys)
|
rs201299366
|
0.00021
|
|
NM_004525.3(LRP2):c.3355C>A (p.His1119Asn)
|
rs183570870
|
0.00021
|
|
NM_004525.3(LRP2):c.6130G>A (p.Ala2044Thr)
|
rs142266106
|
0.00021
|
|
NM_004525.3(LRP2):c.7384_7390+8dup
|
rs587780382
|
0.00021
|
|
NM_014363.6(SACS):c.973G>A (p.Gly325Arg)
|
rs144303334
|
0.00021
|
|
NM_018136.5(ASPM):c.523G>A (p.Val175Ile)
|
rs201934616
|
0.00021
|
|
NM_018136.5(ASPM):c.5833A>G (p.Ile1945Val)
|
rs147466865
|
0.00021
|
|
NM_018136.5(ASPM):c.8009T>C (p.Ile2670Thr)
|
rs41299627
|
0.00021
|
|
NM_020631.6(PLEKHG5):c.34C>A (p.Pro12Thr)
|
rs140687324
|
0.00021
|
|
NM_206933.4(USH2A):c.1550+10T>C
|
rs200728788
|
0.00021
|
|
NM_206933.4(USH2A):c.4532C>T (p.Ala1511Val)
|
rs201710470
|
0.00021
|
|
NM_206933.4(USH2A):c.5844T>C (p.Arg1948=)
|
rs147930567
|
0.00021
|
|
NM_206933.4(USH2A):c.6325+13G>A
|
rs368490585
|
0.00021
|
|
NM_206933.4(USH2A):c.7491G>T (p.Val2497=)
|
rs142143100
|
0.00021
|
|
NM_000337.6(SGCD):c.*7231A>T
|
rs766236284
|
0.00020
|
|
NM_000441.2(SLC26A4):c.1491T>C (p.Gly497=)
|
rs150860491
|
0.00020
|
|
NM_001130987.2(DYSF):c.3695C>T (p.Pro1232Leu)
|
rs150942486
|
0.00020
|
|
NM_001378454.1(ALMS1):c.280C>T (p.Pro94Ser)
|
rs775431837
|
0.00020
|
|
NM_014363.6(SACS):c.7200T>C (p.Phe2400=)
|
rs148544893
|
0.00020
|
|
NM_014363.6(SACS):c.9275A>T (p.Tyr3092Phe)
|
rs139579036
|
0.00020
|
|
NM_018136.5(ASPM):c.676C>T (p.Pro226Ser)
|
rs147830520
|
0.00020
|
|
NM_025114.4(CEP290):c.1729C>T (p.Leu577=)
|
rs201295052
|
0.00020
|
|
NM_138694.4(PKHD1):c.6121G>A (p.Gly2041Ser)
|
rs199589074
|
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_000023.4(SGCA):c.739G>A (p.Val247Met)
|
rs143570936
|
0.00019
|
|
NM_000337.6(SGCD):c.*5907T>C
|
rs766068819
|
0.00019
|
|
NM_000372.5(TYR):c.823G>T (p.Val275Phe)
|
rs104894314
|
0.00019
|
|
NM_000492.4(CFTR):c.31G>A (p.Val11Ile)
|
rs1800072
|
0.00019
|
|
NM_000492.4(CFTR):c.418C>T (p.Pro140Ser)
|
rs145900055
|
0.00019
|
|
NM_000492.4(CFTR):c.902A>G (p.Tyr301Cys)
|
rs150691494
|
0.00019
|
|
NM_001184.4(ATR):c.4592A>G (p.His1531Arg)
|
rs200070057
|
0.00019
|
|
NM_001267550.2(TTN):c.39127+10A>C
|
rs397517554
|
0.00019
|
|
NM_001267550.2(TTN):c.97578C>T (p.Asp32526=)
|
rs142907833
|
0.00019
|
|
NM_001614.5(ACTG1):c.159C>T (p.Tyr53=)
|
rs139751304
|
0.00019
|
|
NM_002485.5(NBN):c.37+6G>A
|
rs540868733
|
0.00019
|
|
NM_004525.3(LRP2):c.11478G>A (p.Ala3826=)
|
rs150464677
|
0.00019
|
|
NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser)
|
rs201558584
|
0.00019
|
|
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys)
|
rs61754478
|
0.00019
|
|
NM_014363.6(SACS):c.7647T>G (p.Leu2549=)
|
rs186301471
|
0.00019
|
|
NM_014363.6(SACS):c.99T>C (p.Asp33=)
|
rs775206528
|
0.00019
|
|
NM_015046.7(SETX):c.7991T>C (p.Leu2664Pro)
|
rs143798689
|
0.00019
|
|
NM_018136.5(ASPM):c.1949C>G (p.Ser650Cys)
|
rs112997359
|
0.00019
|
|
NM_018136.5(ASPM):c.3311G>A (p.Gly1104Asp)
|
rs146959075
|
0.00019
|
|
NM_025132.4(WDR19):c.1595T>C (p.Ile532Thr)
|
rs749672769
|
0.00019
|
|
NM_206933.4(USH2A):c.6683T>A (p.Val2228Glu)
|
rs117461552
|
0.00019
|
|
NM_000070.3(CAPN3):c.1668C>T (p.Ile556=)
|
rs199884116
|
0.00018
|
|
NM_000243.3(MEFV):c.656G>A (p.Gly219Asp)
|
rs752973530
|
0.00018
|
|
NM_000372.5(TYR):c.242C>T (p.Pro81Leu)
|
rs28940876
|
0.00018
|
|
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_002485.5(NBN):c.1999T>C (p.Ser667Pro)
|
rs587780091
|
0.00018
|
|
NM_004525.3(LRP2):c.8073C>T (p.His2691=)
|
rs146772976
|
0.00018
|
|
NM_018136.5(ASPM):c.4933G>A (p.Gly1645Arg)
|
rs201927596
|
0.00018
|
|
NM_018136.5(ASPM):c.8277A>G (p.Lys2759=)
|
rs148555951
|
0.00018
|
|
NM_022124.6(CDH23):c.9928C>T (p.Arg3310Cys)
|
rs200124827
|
0.00018
|
|
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter)
|
rs144948296
|
0.00018
|
|
NM_206933.4(USH2A):c.5179C>T (p.Leu1727Phe)
|
rs368058316
|
0.00018
|
|
NM_000023.4(SGCA):c.172G>C (p.Val58Leu)
|
rs141953249
|
0.00017
|
|
NM_000372.5(TYR):c.915C>A (p.Asp305Glu)
|
rs142170797
|
0.00017
|
|
NM_000441.1(SLC26A4):c.-139C>T
|
rs879914861
|
0.00017
|
|
NM_000441.2(SLC26A4):c.1040C>T (p.Ser347Leu)
|
rs150946659
|
0.00017
|
|
NM_001111.5(ADAR):c.2496+9G>A
|
rs199698434
|
0.00017
|
|
NM_001267550.2(TTN):c.27846C>T (p.Ser9282=)
|
rs182355009
|
0.00017
|
|
NM_014363.6(SACS):c.11928T>C (p.Ser3976=)
|
rs145680118
|
0.00017
|
|
NM_014363.6(SACS):c.3282C>T (p.Asn1094=)
|
rs145499245
|
0.00017
|
|
NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys)
|
rs138379074
|
0.00017
|
|
NM_000023.4(SGCA):c.929A>G (p.Tyr310Cys)
|
rs145252144
|
0.00016
|
|
NM_000243.3(MEFV):c.1016C>T (p.Ser339Phe)
|
rs104895157
|
0.00016
|
|
NM_000337.5(SGCD):c.-404G>A
|
rs192662989
|
0.00016
|
|
NM_000337.6(SGCD):c.817C>T (p.Leu273=)
|
rs375029639
|
0.00016
|
|
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln)
|
rs200476861
|
0.00016
|
|
NM_000372.5(TYR):c.573A>G (p.Gly191=)
|
rs372123800
|
0.00016
|
|
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly)
|
rs111033244
|
0.00016
|
|
NM_000441.2(SLC26A4):c.225C>G (p.Leu75=)
|
rs187447337
|
0.00016
|
|
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu)
|
rs200735475
|
0.00016
|
|
NM_000492.4(CFTR):c.489+3A>G
|
rs377729736
|
0.00016
|
|
NM_001111.5(ADAR):c.1625A>G (p.Asn542Ser)
|
rs200242235
|
0.00016
|
|
NM_001184.4(ATR):c.1258C>G (p.Leu420Val)
|
rs377186178
|
0.00016
|
|
NM_001267550.2(TTN):c.20772G>A (p.Lys6924=)
|
rs369993514
|
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_001614.5(ACTG1):c.978G>A (p.Lys326=)
|
rs139339869
|
0.00016
|
|
NM_002160.4(TNC):c.2120G>C (p.Arg707Thr)
|
rs146640511
|
0.00016
|
|
NM_002485.5(NBN):c.1343A>T (p.Gln448Leu)
|
rs146403088
|
0.00016
|
|
NM_002485.5(NBN):c.2202A>G (p.Ala734=)
|
rs200452212
|
0.00016
|
|
NM_004525.3(LRP2):c.12687T>C (p.Gly4229=)
|
rs140195786
|
0.00016
|
|
NM_004700.4(KCNQ4):c.1325T>C (p.Met442Thr)
|
rs142453905
|
0.00016
|
|
NM_004700.4(KCNQ4):c.735G>A (p.Gly245=)
|
rs147751558
|
0.00016
|
|
NM_014363.6(SACS):c.11703T>C (p.Asn3901=)
|
rs146154135
|
0.00016
|
|
NM_014363.6(SACS):c.12765G>A (p.Arg4255=)
|
rs139692779
|
0.00016
|
|
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr)
|
rs76872266
|
0.00016
|
|
NM_014363.6(SACS):c.4302A>G (p.Leu1434=)
|
rs34559250
|
0.00016
|
|
NM_015046.7(SETX):c.1066G>A (p.Val356Ile)
|
rs143270460
|
0.00016
|
|
NM_015046.7(SETX):c.7195A>G (p.Ile2399Val)
|
rs150489999
|
0.00016
|
|
NM_018136.5(ASPM):c.4214G>A (p.Arg1405His)
|
rs143092798
|
0.00016
|
|
NM_018136.5(ASPM):c.4402G>A (p.Ala1468Thr)
|
rs189918817
|
0.00016
|
|
NM_018136.5(ASPM):c.6514G>A (p.Val2172Ile)
|
rs370590014
|
0.00016
|
|
NM_018136.5(ASPM):c.8187A>G (p.Lys2729=)
|
rs779442940
|
0.00016
|
|
NM_022124.6(CDH23):c.2926A>G (p.Ser976Gly)
|
rs372401651
|
0.00016
|
|
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu)
|
rs200817579
|
0.00016
|
|
NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=)
|
rs138989655
|
0.00016
|
|
NM_138694.4(PKHD1):c.633G>A (p.Gly211=)
|
rs144025892
|
0.00016
|
|
NM_206933.4(USH2A):c.12399G>A (p.Glu4133=)
|
rs150406015
|
0.00016
|
|
NM_206933.4(USH2A):c.6186A>C (p.Pro2062=)
|
rs200247886
|
0.00016
|
|
NM_206933.4(USH2A):c.8552A>C (p.Asn2851Thr)
|
rs577389392
|
0.00016
|
|
NM_206933.4(USH2A):c.9604C>G (p.Pro3202Ala)
|
rs113786363
|
0.00016
|
|
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr)
|
rs528342000
|
0.00016
|
|
NM_000243.3(MEFV):c.1261-28A>G
|
rs104895140
|
0.00015
|
|
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val)
|
rs121909021
|
0.00015
|
|
NM_000492.4(CFTR):c.360G>A (p.Ala120=)
|
rs1800077
|
0.00015
|
|
NM_001127671.2(LIFR):c.143-39C>G
|
rs62355820
|
0.00015
|
|
NM_001184.4(ATR):c.2088C>T (p.Val696=)
|
rs202050285
|
0.00015
|
|
NM_001184.4(ATR):c.3888T>C (p.Asn1296=)
|
rs143268462
|
0.00015
|
|
NM_001184.4(ATR):c.4641+9A>G
|
rs369284360
|
0.00015
|
|
NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val)
|
rs202228570
|
0.00015
|
|
NM_002485.5(NBN):c.38-10T>A
|
rs556807466
|
0.00015
|
|
NM_004525.3(LRP2):c.7627G>A (p.Val2543Ile)
|
rs149259672
|
0.00015
|
|
NM_004525.3(LRP2):c.8132G>A (p.Arg2711His)
|
rs190037522
|
0.00015
|
|
NM_014363.6(SACS):c.10298C>T (p.Thr3433Ile)
|
rs200991790
|
0.00015
|
|
NM_014363.6(SACS):c.3345C>T (p.Val1115=)
|
rs143287019
|
0.00015
|
|
NM_015602.4(TOR1AIP1):c.452T>C (p.Leu151Pro)
|
rs373049289
|
0.00015
|
|
NM_015602.4(TOR1AIP1):c.838+3A>G
|
rs139072070
|
0.00015
|
|
NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter)
|
rs137852994
|
0.00015
|
|
NM_206933.4(USH2A):c.5330G>A (p.Arg1777Gln)
|
rs541275063
|
0.00015
|
|
NM_206933.4(USH2A):c.9008T>C (p.Val3003Ala)
|
rs138574386
|
0.00015
|
|
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys)
|
rs138945081
|
0.00014
|
|
NM_000243.3(MEFV):c.1528G>A (p.Asp510Asn)
|
rs200557537
|
0.00014
|
|
NM_000243.3(MEFV):c.1770G>A (p.Leu590=)
|
rs139692347
|
0.00014
|
|
NM_000243.3(MEFV):c.331G>A (p.Gly111Arg)
|
rs112739451
|
0.00014
|
|
NM_000271.5(NPC1):c.1274C>T (p.Ser425Leu)
|
rs140149624
|
0.00014
|
|
NM_000337.6(SGCD):c.*1719G>A
|
rs886060293
|
0.00014
|
|
NM_000337.6(SGCD):c.*3779T>C
|
rs886060302
|
0.00014
|
|
NM_000372.5(TYR):c.1467dup (p.Ala490fs)
|
rs61754399
|
0.00014
|
|
NM_000492.4(CFTR):c.2559T>C (p.Ile853=)
|
rs1800104
|
0.00014
|
|
NM_001111.5(ADAR):c.1725C>T (p.Ala575=)
|
rs144279106
|
0.00014
|
|
NM_001111.5(ADAR):c.2497-15C>T
|
rs113249520
|
0.00014
|
|
NM_001184.4(ATR):c.3183A>G (p.Glu1061=)
|
rs138025798
|
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_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val)
|
rs201728850
|
0.00014
|
|
NM_002485.5(NBN):c.1809C>A (p.Phe603Leu)
|
rs192236678
|
0.00014
|
|
NM_002485.5(NBN):c.266G>C (p.Arg89Pro)
|
rs747315554
|
0.00014
|
|
NM_002485.5(NBN):c.456G>A (p.Met152Ile)
|
rs201816949
|
0.00014
|
|
NM_014363.6(SACS):c.11048A>G (p.Asn3683Ser)
|
rs138609508
|
0.00014
|
|
NM_016373.4(WWOX):c.517-17A>G
|
rs79423401
|
0.00014
|
|
NM_018136.5(ASPM):c.5584A>G (p.Lys1862Glu)
|
rs527602809
|
0.00014
|
|
NM_033056.4(PCDH15):c.5439A>C (p.Pro1813=)
|
rs150303579
|
0.00014
|
|
NM_153700.2(STRC):c.3307-5T>G
|
rs727503446
|
0.00014
|
|
NM_153700.2(STRC):c.3555G>A (p.Leu1185=)
|
rs2597064
|
0.00014
|
|
NM_206933.4(USH2A):c.127G>A (p.Val43Met)
|
rs147421006
|
0.00014
|
|
NM_206933.4(USH2A):c.13477C>T (p.Arg4493Cys)
|
rs144543286
|
0.00014
|
|
NM_206933.4(USH2A):c.15090G>A (p.Ser5030=)
|
rs397517997
|
0.00014
|
|
NM_206933.4(USH2A):c.3252G>T (p.Trp1084Cys)
|
rs200289497
|
0.00014
|
|
NM_206933.4(USH2A):c.3375T>G (p.Ile1125Met)
|
rs143319658
|
0.00014
|
|
NM_206933.4(USH2A):c.7291C>T (p.Pro2431Ser)
|
rs148136966
|
0.00014
|
|
NM_206933.4(USH2A):c.9992T>A (p.Met3331Lys)
|
rs141452179
|
0.00014
|
|
NM_000023.4(SGCA):c.328C>T (p.Arg110Trp)
|
rs200137051
|
0.00013
|
|
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)
|
rs137852623
|
0.00013
|
|
NM_000023.4(SGCA):c.981C>T (p.Ser327=)
|
rs368522117
|
0.00013
|
|
NM_000337.6(SGCD):c.*1856A>T
|
rs886060295
|
0.00013
|
|
NM_000337.6(SGCD):c.*753C>T
|
rs543082767
|
0.00013
|
|
NM_000337.6(SGCD):c.3+20G>A
|
rs187786098
|
0.00013
|
|
NM_000337.6(SGCD):c.755C>T (p.Thr252Met)
|
rs199520526
|
0.00013
|
|
NM_000441.2(SLC26A4):c.1905G>A (p.Glu635=)
|
rs541538556
|
0.00013
|
|
NM_000492.4(CFTR):c.1679+16T>C
|
rs397508262
|
0.00013
|
|
NM_000492.4(CFTR):c.2552G>A (p.Arg851Gln)
|
rs397508395
|
0.00013
|
|
NM_001111.5(ADAR):c.1934+8C>T
|
rs376025865
|
0.00013
|
|
NM_001184.4(ATR):c.5572T>C (p.Cys1858Arg)
|
rs367898142
|
0.00013
|
|
NM_001267550.2(TTN):c.23925C>T (p.Ser7975=)
|
rs374879942
|
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_001384140.1(PCDH15):c.1900G>A (p.Val634Ile)
|
rs146199636
|
0.00013
|
|
NM_002485.5(NBN):c.1124+6G>T
|
rs375862750
|
0.00013
|
|
NM_004525.3(LRP2):c.12296-7T>A
|
rs200755164
|
0.00013
|
|
NM_004525.3(LRP2):c.5005A>G (p.Asn1669Asp)
|
rs143413559
|
0.00013
|
|
NM_015046.7(SETX):c.3992C>T (p.Pro1331Leu)
|
rs11243731
|
0.00013
|
|
NM_015046.7(SETX):c.7738G>A (p.Val2580Ile)
|
rs370366576
|
0.00013
|
|
NM_018136.5(ASPM):c.3960C>T (p.Leu1320=)
|
rs148964635
|
0.00013
|
|
NM_206933.4(USH2A):c.10312G>A (p.Ala3438Thr)
|
rs146980351
|
0.00013
|
|
NM_206933.4(USH2A):c.13134G>T (p.Pro4378=)
|
rs148975669
|
0.00013
|
|
NM_206933.4(USH2A):c.1903A>G (p.Ile635Val)
|
rs201808654
|
0.00013
|
|
NM_206933.4(USH2A):c.4697A>G (p.Gln1566Arg)
|
rs376314751
|
0.00013
|
|
NM_206933.4(USH2A):c.6080A>C (p.Asn2027Thr)
|
rs144112891
|
0.00013
|
|
NM_206933.4(USH2A):c.7312G>A (p.Val2438Met)
|
rs370988961
|
0.00013
|
|
NM_213599.3(ANO5):c.2256G>A (p.Thr752=)
|
rs144048656
|
0.00013
|
|
NM_000070.3(CAPN3):c.552G>A (p.Thr184=)
|
rs147808529
|
0.00012
|
|
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys)
|
rs200761715
|
0.00012
|
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
|
NM_000337.6(SGCD):c.*6127G>A
|
rs527412372
|
0.00012
|
|
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala)
|
rs121909298
|
0.00012
|
|
NM_000441.2(SLC26A4):c.1234G>A (p.Val412Ile)
|
rs111033527
|
0.00012
|
|
NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser)
|
rs371107552
|
0.00012
|
|
NM_001184.4(ATR):c.437C>A (p.Thr146Lys)
|
rs368592452
|
0.00012
|
|
NM_001267550.2(TTN):c.12955G>A (p.Ala4319Thr)
|
rs150137596
|
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.82497C>T (p.Thr27499=)
|
rs199629314
|
0.00012
|
|
NM_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala)
|
rs199649563
|
0.00012
|
|
NM_004525.3(LRP2):c.12756C>T (p.Asp4252=)
|
rs201793817
|
0.00012
|
|
NM_004525.3(LRP2):c.2476A>T (p.Asn826Tyr)
|
rs201591789
|
0.00012
|
|
NM_014363.6(SACS):c.1081A>G (p.Lys361Glu)
|
rs377027736
|
0.00012
|
|
NM_014363.6(SACS):c.12647A>G (p.Asp4216Gly)
|
rs550068559
|
0.00012
|
|
NM_014363.6(SACS):c.2294A>G (p.Tyr765Cys)
|
rs141553858
|
0.00012
|
|
NM_014363.6(SACS):c.5391G>C (p.Lys1797Asn)
|
rs144715822
|
0.00012
|
|
NM_018136.5(ASPM):c.4066-32T>C
|
rs143351980
|
0.00012
|
|
NM_022124.6(CDH23):c.2235C>T (p.Ile745=)
|
rs368841307
|
0.00012
|
|
NM_174878.3(CLRN1):c.183G>A (p.Met61Ile)
|
rs140094683
|
0.00012
|
|
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)
|
rs111033364
|
0.00012
|
|
NM_206933.4(USH2A):c.1623G>A (p.Glu541=)
|
rs146805130
|
0.00012
|
|
NM_206933.4(USH2A):c.6387A>G (p.Thr2129=)
|
rs150282853
|
0.00012
|
|
NM_206933.4(USH2A):c.8457C>T (p.Thr2819=)
|
rs369778429
|
0.00012
|
|
NM_000231.3(SGCG):c.653T>C (p.Ile218Thr)
|
rs202045534
|
0.00011
|
|
NM_000243.3(MEFV):c.1171G>A (p.Asp391Asn)
|
rs764274816
|
0.00011
|
|
NM_000243.3(MEFV):c.1341G>C (p.Lys447Asn)
|
rs756322372
|
0.00011
|
|
NM_000243.3(MEFV):c.1522C>G (p.Leu508Val)
|
rs199937453
|
0.00011
|
|
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=)
|
rs367668576
|
0.00011
|
|
NM_000337.6(SGCD):c.*2139C>T
|
rs889080445
|
0.00011
|
|
NM_000337.6(SGCD):c.191T>C (p.Ile64Thr)
|
rs376780156
|
0.00011
|
|
NM_000372.5(TYR):c.1161T>C (p.Leu387=)
|
rs141967840
|
0.00011
|
|
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser)
|
rs104894317
|
0.00011
|
|
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)
|
rs111033205
|
0.00011
|
|
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)
|
rs397508137
|
0.00011
|
|
NM_000492.4(CFTR):c.1163C>T (p.Thr388Met)
|
rs143860237
|
0.00011
|
|
NM_000492.4(CFTR):c.2153C>G (p.Pro718Arg)
|
rs142432539
|
0.00011
|
|
NM_000492.4(CFTR):c.3274T>C (p.Tyr1092His)
|
rs376968326
|
0.00011
|
|
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)
|
rs191456345
|
0.00011
|
|
NM_000492.4(CFTR):c.806T>C (p.Ile269Thr)
|
rs201016820
|
0.00011
|
|
NM_001184.4(ATR):c.4944C>G (p.Ser1648=)
|
rs200668215
|
0.00011
|
|
NM_001184.4(ATR):c.7839G>A (p.Pro2613=)
|
rs371176601
|
0.00011
|
|
NM_001267550.2(TTN):c.88510G>A (p.Asp29504Asn)
|
rs376679796
|
0.00011
|
|
NM_002485.5(NBN):c.1036G>A (p.Val346Met)
|
rs200297914
|
0.00011
|
|
NM_002485.5(NBN):c.1914+10G>A
|
rs577706448
|
0.00011
|
|
NM_002485.5(NBN):c.37+10G>C
|
rs369408590
|
0.00011
|
|
NM_002485.5(NBN):c.505C>T (p.Arg169Cys)
|
rs182756889
|
0.00011
|
|
NM_004525.3(LRP2):c.13359C>T (p.Ser4453=)
|
rs202161925
|
0.00011
|
|
NM_004525.3(LRP2):c.5370A>G (p.Gln1790=)
|
rs201155152
|
0.00011
|
|
NM_004525.3(LRP2):c.5553C>T (p.His1851=)
|
rs369998522
|
0.00011
|
|
NM_014363.6(SACS):c.10076C>T (p.Thr3359Ile)
|
rs368089670
|
0.00011
|
|
NM_014363.6(SACS):c.1033C>T (p.Arg345Trp)
|
rs776156836
|
0.00011
|
|
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn)
|
rs372359781
|
0.00011
|
|
NM_014363.6(SACS):c.2681C>T (p.Ser894Leu)
|
rs201857647
|
0.00011
|
|
NM_014363.6(SACS):c.4900G>C (p.Glu1634Gln)
|
rs143961484
|
0.00011
|
|
NM_014363.6(SACS):c.4936C>A (p.Leu1646Met)
|
rs200810800
|
0.00011
|
|
NM_014363.6(SACS):c.5841C>T (p.Pro1947=)
|
rs145371235
|
0.00011
|
|
NM_014363.6(SACS):c.5903C>T (p.Ala1968Val)
|
rs201866523
|
0.00011
|
|
NM_015046.7(SETX):c.3090T>C (p.Leu1030=)
|
rs368677513
|
0.00011
|
|
NM_015602.4(TOR1AIP1):c.1140A>C (p.Gln380His)
|
rs139364730
|
0.00011
|
|
NM_018136.5(ASPM):c.2365A>G (p.Ile789Val)
|
rs755203240
|
0.00011
|
|
NM_018136.5(ASPM):c.502A>C (p.Arg168=)
|
rs147527791
|
0.00011
|
|
NM_018136.5(ASPM):c.8524C>T (p.Arg2842Trp)
|
rs112946633
|
0.00011
|
|
NM_022124.6(CDH23):c.1672G>A (p.Val558Met)
|
rs780661396
|
0.00011
|
|
NM_025132.4(WDR19):c.3027C>T (p.Asp1009=)
|
rs181975379
|
0.00011
|
|
NM_138694.4(PKHD1):c.4304G>C (p.Ser1435Thr)
|
rs138242579
|
0.00011
|
|
NM_153700.2(STRC):c.4057C>T (p.Gln1353Ter)
|
rs774312182
|
0.00011
|
|
NM_153700.2(STRC):c.4402C>T (p.Arg1468Ter)
|
rs377480477
|
0.00011
|
|
NM_206933.4(USH2A):c.10059G>A (p.Pro3353=)
|
rs147842359
|
0.00011
|
|
NM_206933.4(USH2A):c.10896C>T (p.Leu3632=)
|
rs200287425
|
0.00011
|
|
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu)
|
rs143344549
|
0.00011
|
|
NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met)
|
rs139065588
|
0.00011
|
|
NM_206933.4(USH2A):c.188G>A (p.Arg63Gln)
|
rs369806765
|
0.00011
|
|
NM_206933.4(USH2A):c.1935A>T (p.Thr645=)
|
rs146670690
|
0.00011
|
|
NM_206933.4(USH2A):c.2633G>A (p.Arg878His)
|
rs200124505
|
0.00011
|
|
NM_206933.4(USH2A):c.3443C>T (p.Pro1148Leu)
|
rs141339026
|
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_000023.4(SGCA):c.1076C>A (p.Thr359Asn)
|
rs146924667
|
0.00010
|
|
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)
|
rs104895097
|
0.00010
|
|
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)
|
rs5030851
|
0.00010
|
|
NM_000317.3(PTS):c.317C>T (p.Thr106Met)
|
rs200712908
|
0.00010
|
|
NM_000337.6(SGCD):c.*5467G>C
|
rs749139391
|
0.00010
|
|
NM_000337.6(SGCD):c.*8380A>G
|
rs556296196
|
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_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp)
|
rs397516426
|
0.00010
|
|
NM_000441.2(SLC26A4):c.415+4A>G
|
rs368280107
|
0.00010
|
|
NM_000441.2(SLC26A4):c.796G>A (p.Asp266Asn)
|
rs138462416
|
0.00010
|
|
NM_000492.4(CFTR):c.2557A>G (p.Ile853Val)
|
rs780187979
|
0.00010
|
|
NM_001111.5(ADAR):c.222G>A (p.Arg74=)
|
rs150423721
|
0.00010
|
|
NM_001111.5(ADAR):c.656G>C (p.Gly219Ala)
|
rs139471471
|
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.40250C>T (p.Pro13417Leu)
|
rs537578226
|
0.00010
|
|
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp)
|
rs199615803
|
0.00010
|
|
NM_004525.3(LRP2):c.8112C>A (p.Ser2704=)
|
rs148473513
|
0.00010
|
|
NM_004525.3(LRP2):c.9066C>T (p.Ser3022=)
|
rs374380173
|
0.00010
|
|
NM_004700.4(KCNQ4):c.1668C>T (p.Tyr556=)
|
rs140945833
|
0.00010
|
|
NM_014363.6(SACS):c.2643G>C (p.Glu881Asp)
|
rs200517685
|
0.00010
|
|
NM_018136.5(ASPM):c.3083-11T>C
|
rs372375601
|
0.00010
|
|
NM_018136.5(ASPM):c.3156G>A (p.Ala1052=)
|
rs143680877
|
0.00010
|
|
NM_018136.5(ASPM):c.4985T>G (p.Ile1662Ser)
|
rs147839989
|
0.00010
|
|
NM_018136.5(ASPM):c.9577C>T (p.Arg3193Cys)
|
rs140679756
|
0.00010
|
|
NM_153700.2(STRC):c.4845C>T (p.Ser1615=)
|
rs184909019
|
0.00010
|
|
NM_206933.4(USH2A):c.11506C>T (p.Pro3836Ser)
|
rs371987720
|
0.00010
|
|
NM_206933.4(USH2A):c.12088C>T (p.Leu4030=)
|
rs141528682
|
0.00010
|
|
NM_206933.4(USH2A):c.12897G>T (p.Arg4299Ser)
|
rs143898511
|
0.00010
|
|
NM_206933.4(USH2A):c.14567A>G (p.Asn4856Ser)
|
rs139799843
|
0.00010
|
|
NM_206933.4(USH2A):c.4046C>T (p.Ser1349Phe)
|
rs145148501
|
0.00010
|
|
NM_206933.4(USH2A):c.6958-5C>T
|
rs147914083
|
0.00010
|
|
NM_206933.4(USH2A):c.7379G>A (p.Arg2460His)
|
rs368681648
|
0.00010
|
|
NM_206933.4(USH2A):c.7936C>A (p.Pro2646Thr)
|
rs760777446
|
0.00010
|
|
NM_000023.4(SGCA):c.1051C>T (p.Arg351Cys)
|
rs143365858
|
0.00009
|
|
NM_000023.4(SGCA):c.155T>G (p.Val52Gly)
|
rs148132791
|
0.00009
|
|
NM_000232.5(SGCB):c.97A>G (p.Asn33Asp)
|
rs753684563
|
0.00009
|
|
NM_000243.3(MEFV):c.959G>C (p.Gly320Ala)
|
rs374412819
|
0.00009
|
|
NM_000260.4(MYO7A):c.549G>A (p.Ser183=)
|
rs188198404
|
0.00009
|
|
NM_000337.6(SGCD):c.160A>G (p.Ile54Val)
|
rs200671745
|
0.00009
|
|
NM_000360.4(TH):c.51C>T (p.Ala17=)
|
rs199645400
|
0.00009
|
|
NM_000441.2(SLC26A4):c.1796C>T (p.Ala599Val)
|
rs201709908
|
0.00009
|
|
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu)
|
rs111033309
|
0.00009
|
|
NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr)
|
rs111033302
|
0.00009
|
|
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile)
|
rs727505080
|
0.00009
|
|
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)
|
rs121909011
|
0.00009
|
|
NM_000492.4(CFTR):c.137C>T (p.Ala46Val)
|
rs151020603
|
0.00009
|
|
NM_000492.4(CFTR):c.1454G>C (p.Ser485Thr)
|
rs143980575
|
0.00009
|
|
NM_000492.4(CFTR):c.1731C>T (p.Tyr577=)
|
rs55928397
|
0.00009
|
|
NM_000492.4(CFTR):c.3151A>G (p.Ile1051Val)
|
rs374403559
|
0.00009
|
|
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu)
|
rs140502196
|
0.00009
|
|
NM_000492.4(CFTR):c.889C>T (p.Arg297Trp)
|
rs397508814
|
0.00009
|
|
NM_001111.5(ADAR):c.1851C>A (p.Thr617=)
|
rs764879657
|
0.00009
|
|
NM_001184.4(ATR):c.2532+4G>A
|
rs190596919
|
0.00009
|
|
NM_001184.4(ATR):c.276C>G (p.Ala92=)
|
rs369461039
|
0.00009
|
|
NM_001184.4(ATR):c.7041+4G>C
|
rs113544835
|
0.00009
|
|
NM_001184.4(ATR):c.7488T>C (p.Asn2496=)
|
rs369200535
|
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.29325C>T (p.Asn9775=)
|
rs377442695
|
0.00009
|
|
NM_001267550.2(TTN):c.88407G>A (p.Ala29469=)
|
rs531445644
|
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.954C>T (p.Thr318=)
|
rs3211110
|
0.00009
|
|
NM_004004.6(GJB2):c.487A>G (p.Met163Val)
|
rs80338949
|
0.00009
|
|
NM_004525.3(LRP2):c.10906C>T (p.Arg3636Trp)
|
rs747833963
|
0.00009
|
|
NM_004525.3(LRP2):c.12296-4G>A
|
rs375166826
|
0.00009
|
|
NM_004700.4(KCNQ4):c.176C>T (p.Pro59Leu)
|
rs775420649
|
0.00009
|
|
NM_004700.4(KCNQ4):c.2028C>T (p.Asp676=)
|
rs552843990
|
0.00009
|
|
NM_014363.6(SACS):c.1463C>T (p.Pro488Leu)
|
rs375875022
|
0.00009
|
|
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr)
|
rs371869943
|
0.00009
|
|
NM_014363.6(SACS):c.5744A>G (p.His1915Arg)
|
rs144822691
|
0.00009
|
|
NM_015046.7(SETX):c.4631T>C (p.Leu1544Ser)
|
rs754357821
|
0.00009
|
|
NM_015046.7(SETX):c.4677A>G (p.Lys1559=)
|
rs200123129
|
0.00009
|
|
NM_015046.7(SETX):c.4866G>A (p.Pro1622=)
|
rs779472573
|
0.00009
|
|
NM_015602.4(TOR1AIP1):c.1319G>A (p.Arg440His)
|
rs145065164
|
0.00009
|
|
NM_018136.5(ASPM):c.4796G>A (p.Arg1599Gln)
|
rs62623433
|
0.00009
|
|
NM_018136.5(ASPM):c.5333T>C (p.Ile1778Thr)
|
rs777352982
|
0.00009
|
|
NM_018136.5(ASPM):c.6275A>T (p.Asn2092Ile)
|
rs144574871
|
0.00009
|
|
NM_018136.5(ASPM):c.712C>T (p.Pro238Ser)
|
rs148338547
|
0.00009
|
|
NM_018136.5(ASPM):c.9439A>G (p.Ile3147Val)
|
rs150906798
|
0.00009
|
|
NM_022124.6(CDH23):c.5026G>A (p.Ala1676Thr)
|
rs56043301
|
0.00009
|
|
NM_206933.4(USH2A):c.11923G>A (p.Ala3975Thr)
|
rs372327495
|
0.00009
|
|
NM_206933.4(USH2A):c.12558T>C (p.Ile4186=)
|
rs369335995
|
0.00009
|
|
NM_206933.4(USH2A):c.12818A>G (p.Tyr4273Cys)
|
rs777874309
|
0.00009
|
|
NM_206933.4(USH2A):c.1981C>G (p.Gln661Glu)
|
rs140955723
|
0.00009
|
|
NM_206933.4(USH2A):c.2035G>A (p.Gly679Arg)
|
rs367693972
|
0.00009
|
|
NM_206933.4(USH2A):c.2167+5G>A
|
rs771583281
|
0.00009
|
|
NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala)
|
rs587783023
|
0.00009
|
|
NM_206933.4(USH2A):c.3226C>T (p.Pro1076Ser)
|
rs139089840
|
0.00009
|
|
NM_206933.4(USH2A):c.4397-1G>A
|
rs199982344
|
0.00009
|
|
NM_206933.4(USH2A):c.4618G>A (p.Asp1540Asn)
|
rs752238803
|
0.00009
|
|
NM_206933.4(USH2A):c.5367A>G (p.Leu1789=)
|
rs138064171
|
0.00009
|
|
NM_206933.4(USH2A):c.7719T>C (p.Arg2573=)
|
rs143683292
|
0.00009
|
|
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys)
|
rs140387675
|
0.00008
|
|
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys)
|
rs149914792
|
0.00008
|
|
NM_000243.3(MEFV):c.765A>G (p.Ala255=)
|
rs771714168
|
0.00008
|
|
NM_000260.4(MYO7A):c.3658C>G (p.Pro1220Ala)
|
rs758332732
|
0.00008
|
|
NM_000337.6(SGCD):c.*1047C>T
|
rs999149586
|
0.00008
|
|
NM_000337.6(SGCD):c.*7298A>C
|
rs886060321
|
0.00008
|
|
NM_000337.6(SGCD):c.*7507A>G
|
rs75641902
|
0.00008
|
|
NM_000337.6(SGCD):c.-59G>A
|
rs375477247
|
0.00008
|
|
NM_000337.6(SGCD):c.566A>G (p.Lys189Arg)
|
rs538002169
|
0.00008
|
|
NM_000372.5(TYR):c.613C>A (p.Pro205Thr)
|
rs61754362
|
0.00008
|
|
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp)
|
rs111033307
|
0.00008
|
|
NM_000492.4(CFTR):c.125C>T (p.Ser42Phe)
|
rs143456784
|
0.00008
|
|
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys)
|
rs199791061
|
0.00008
|
|
NM_000492.4(CFTR):c.2756A>G (p.Tyr919Cys)
|
rs397508430
|
0.00008
|
|
NM_000492.4(CFTR):c.3025G>A (p.Ala1009Thr)
|
rs184724618
|
0.00008
|
|
NM_000492.4(CFTR):c.3592G>A (p.Val1198Met)
|
rs576710089
|
0.00008
|
|
NM_001184.4(ATR):c.1359T>G (p.His453Gln)
|
rs202239914
|
0.00008
|
|
NM_001184.4(ATR):c.4447T>C (p.Leu1483=)
|
rs577577577
|
0.00008
|
|
NM_001184.4(ATR):c.7902C>T (p.Cys2634=)
|
rs553715098
|
0.00008
|
|
NM_001267550.2(TTN):c.103524C>T (p.Val34508=)
|
rs587780985
|
0.00008
|
|
NM_001267550.2(TTN):c.33742+8C>T
|
rs375939001
|
0.00008
|
|
NM_001614.5(ACTG1):c.486G>A (p.Thr162=)
|
rs782442814
|
0.00008
|
|
NM_002485.5(NBN):c.671G>A (p.Gly224Glu)
|
rs199845467
|
0.00008
|
|
NM_004525.3(LRP2):c.11335G>A (p.Asp3779Asn)
|
rs199583537
|
0.00008
|
|
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys)
|
rs749383532
|
0.00008
|
|
NM_014363.6(SACS):c.1912T>G (p.Cys638Gly)
|
rs200333323
|
0.00008
|
|
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu)
|
rs747676277
|
0.00008
|
|
NM_015046.7(SETX):c.3103A>G (p.Lys1035Glu)
|
rs117229601
|
0.00008
|
|
NM_015046.7(SETX):c.7979A>G (p.Asp2660Gly)
|
rs567672087
|
0.00008
|
|
NM_015602.4(TOR1AIP1):c.373C>G (p.Arg125Gly)
|
rs201023108
|
0.00008
|
|
NM_015602.4(TOR1AIP1):c.661G>A (p.Glu221Lys)
|
rs377110579
|
0.00008
|
|
NM_018136.5(ASPM):c.1283A>T (p.Asp428Val)
|
rs767859450
|
0.00008
|
|
NM_018136.5(ASPM):c.6851C>T (p.Ser2284Phe)
|
rs371321801
|
0.00008
|
|
NM_022095.4(ZNF335):c.2500C>T (p.Pro834Ser)
|
rs549937846
|
0.00008
|
|
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)
|
rs111033524
|
0.00008
|
|
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)
|
rs121912600
|
0.00008
|
|
NM_206933.4(USH2A):c.13406A>G (p.Asn4469Ser)
|
rs796610671
|
0.00008
|
|
NM_206933.4(USH2A):c.5318T>A (p.Ile1773Lys)
|
rs371201450
|
0.00008
|
|
NM_206933.4(USH2A):c.7787A>G (p.Tyr2596Cys)
|
rs371685066
|
0.00008
|
|
NM_206933.4(USH2A):c.8096G>A (p.Arg2699Gln)
|
rs748137104
|
0.00008
|
|
NM_000023.4(SGCA):c.312+6G>A
|
rs371433770
|
0.00007
|
|
NM_000023.4(SGCA):c.350G>A (p.Arg117Gln)
|
rs117672945
|
0.00007
|
|
NM_000023.4(SGCA):c.766G>A (p.Glu256Lys)
|
rs746698767
|
0.00007
|
|
NM_000243.3(MEFV):c.1996A>T (p.Ile666Phe)
|
rs387907566
|
0.00007
|
|
NM_000243.3(MEFV):c.453G>C (p.Arg151Ser)
|
rs104895185
|
0.00007
|
|
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys)
|
rs142920240
|
0.00007
|
|
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp)
|
rs193922497
|
0.00007
|
|
NM_000492.4(CFTR):c.948T>G (p.Phe316Leu)
|
rs78742051
|
0.00007
|
|
NM_001130987.2(DYSF):c.5158C>G (p.Pro1720Ala)
|
rs753176482
|
0.00007
|
|
NM_001184.4(ATR):c.3327C>T (p.Gly1109=)
|
rs147717467
|
0.00007
|
|
NM_001184.4(ATR):c.7864T>C (p.Tyr2622His)
|
rs374127772
|
0.00007
|
|
NM_001267550.2(TTN):c.104205G>A (p.Thr34735=)
|
rs752424146
|
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.70506G>T (p.Gly23502=)
|
rs181702963
|
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_002485.5(NBN):c.1382C>T (p.Pro461Leu)
|
rs367760321
|
0.00007
|
|
NM_002485.5(NBN):c.1979G>C (p.Arg660Thr)
|
rs201781110
|
0.00007
|
|
NM_002485.5(NBN):c.227C>A (p.Thr76Asn)
|
rs587781412
|
0.00007
|
|
NM_004525.3(LRP2):c.1425C>T (p.Asp475=)
|
rs186484839
|
0.00007
|
|
NM_004700.4(KCNQ4):c.419T>C (p.Ile140Thr)
|
rs200053059
|
0.00007
|
|
NM_014363.6(SACS):c.10909A>G (p.Met3637Val)
|
rs150309559
|
0.00007
|
|
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln)
|
rs148925505
|
0.00007
|
|
NM_014363.6(SACS):c.175T>A (p.Ser59Thr)
|
rs539836931
|
0.00007
|
|
NM_014363.6(SACS):c.5419G>A (p.Glu1807Lys)
|
rs375805688
|
0.00007
|
|
NM_015046.7(SETX):c.3023C>G (p.Thr1008Ser)
|
rs372021275
|
0.00007
|
|
NM_015046.7(SETX):c.4204A>T (p.Thr1402Ser)
|
rs150421712
|
0.00007
|
|
NM_015046.7(SETX):c.5536C>T (p.Arg1846Cys)
|
rs551406712
|
0.00007
|
|
NM_015602.4(TOR1AIP1):c.1439G>A (p.Arg480His)
|
rs745350340
|
0.00007
|
|
NM_018136.5(ASPM):c.2328A>T (p.Glu776Asp)
|
rs184969664
|
0.00007
|
|
NM_018136.5(ASPM):c.9052A>G (p.Lys3018Glu)
|
rs753961004
|
0.00007
|
|
NM_018136.5(ASPM):c.9931C>G (p.Pro3311Ala)
|
rs542967760
|
0.00007
|
|
NM_022124.6(CDH23):c.6446G>A (p.Arg2149Gln)
|
rs377376107
|
0.00007
|
|
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=)
|
rs142855690
|
0.00007
|
|
NM_138694.4(PKHD1):c.1576A>G (p.Ile526Val)
|
rs142608481
|
0.00007
|
|
NM_152618.3(BBS12):c.1506C>T (p.Ala502=)
|
rs144855583
|
0.00007
|
|
NM_153700.2(STRC):c.3670C>T (p.Arg1224Ter)
|
rs727503444
|
0.00007
|
|
NM_206933.4(USH2A):c.15356G>A (p.Arg5119Gln)
|
rs201630132
|
0.00007
|
|
NM_206933.4(USH2A):c.1556A>G (p.Gln519Arg)
|
rs199672621
|
0.00007
|
|
NM_206933.4(USH2A):c.191G>A (p.Ser64Asn)
|
rs778199517
|
0.00007
|
|
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln)
|
rs541918040
|
0.00007
|
|
NM_206933.4(USH2A):c.6524G>A (p.Arg2175His)
|
rs140845899
|
0.00007
|
|
NM_206933.4(USH2A):c.7061G>A (p.Arg2354His)
|
rs201386640
|
0.00007
|
|
NM_206933.4(USH2A):c.7476G>A (p.Ser2492=)
|
rs777803742
|
0.00007
|
|
NM_206933.4(USH2A):c.9922G>A (p.Gly3308Ser)
|
rs752811693
|
0.00007
|
|
NM_000023.4(SGCA):c.1063C>T (p.Arg355Trp)
|
rs766855169
|
0.00006
|
|
NM_000023.4(SGCA):c.349C>T (p.Arg117Trp)
|
rs200075504
|
0.00006
|
|
NM_000023.4(SGCA):c.657C>T (p.His219=)
|
rs747684069
|
0.00006
|
|
NM_000091.5(COL4A3):c.1256C>A (p.Ser419Tyr)
|
rs201031986
|
0.00006
|
|
NM_000092.5(COL4A4):c.4945A>G (p.Ser1649Gly)
|
rs192411379
|
0.00006
|
|
NM_000243.3(MEFV):c.116G>A (p.Arg39Lys)
|
rs141288548
|
0.00006
|
|
NM_000243.3(MEFV):c.1504G>A (p.Val502Ile)
|
rs140462252
|
0.00006
|
|
NM_000243.3(MEFV):c.1610+8G>A
|
rs765410591
|
0.00006
|
|
NM_000243.3(MEFV):c.1889C>T (p.Pro630Leu)
|
rs376579860
|
0.00006
|
|
NM_000243.3(MEFV):c.2033G>A (p.Gly678Glu)
|
rs104895088
|
0.00006
|
|
NM_000243.3(MEFV):c.289C>T (p.Gln97Ter)
|
rs747515115
|
0.00006
|
|
NM_000243.3(MEFV):c.866C>T (p.Ala289Val)
|
rs104895132
|
0.00006
|
|
NM_000271.5(NPC1):c.2747A>G (p.Asn916Ser)
|
rs756815669
|
0.00006
|
|
NM_000287.4(PEX6):c.1636C>T (p.Arg546Cys)
|
rs750452619
|
0.00006
|
|
NM_000337.6(SGCD):c.*1990C>T
|
rs558206035
|
0.00006
|
|
NM_000337.6(SGCD):c.295-20C>A
|
rs144250417
|
0.00006
|
|
NM_000372.5(TYR):c.1A>G (p.Met1Val)
|
rs28940881
|
0.00006
|
|
NM_000372.5(TYR):c.229C>T (p.Arg77Trp)
|
rs61753184
|
0.00006
|
|
NM_000372.5(TYR):c.230G>A (p.Arg77Gln)
|
rs61753185
|
0.00006
|
|
NM_000372.5(TYR):c.896G>A (p.Arg299His)
|
rs61754375
|
0.00006
|
|
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)
|
rs111033305
|
0.00006
|
|
NM_000441.2(SLC26A4):c.1233C>T (p.Ala411=)
|
rs766572560
|
0.00006
|
|
NM_000441.2(SLC26A4):c.128G>A (p.Arg43His)
|
rs372116042
|
0.00006
|
|
NM_000441.2(SLC26A4):c.1468A>C (p.Ile490Leu)
|
rs200511789
|
0.00006
|
|
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser)
|
rs111033308
|
0.00006
|
|
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg)
|
rs111033316
|
0.00006
|
|
NM_000441.2(SLC26A4):c.2283A>G (p.Thr761=)
|
rs202033028
|
0.00006
|
|
NM_000492.4(CFTR):c.1679+18G>A
|
rs369294289
|
0.00006
|
|
NM_000492.4(CFTR):c.169T>C (p.Trp57Arg)
|
rs397508272
|
0.00006
|
|
NM_000492.4(CFTR):c.1934T>A (p.Met645Lys)
|
rs377731410
|
0.00006
|
|
NM_000492.4(CFTR):c.2145A>C (p.Gln715His)
|
rs141235765
|
0.00006
|
|
NM_000492.4(CFTR):c.2597G>A (p.Cys866Tyr)
|
rs193922506
|
0.00006
|
|
NM_000492.4(CFTR):c.2769C>T (p.Ala923=)
|
rs1800108
|
0.00006
|
|
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)
|
rs151048781
|
0.00006
|
|
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)
|
rs78769542
|
0.00006
|
|
NM_000492.4(CFTR):c.3517G>A (p.Gly1173Ser)
|
rs368393738
|
0.00006
|
|
NM_000492.4(CFTR):c.3659C>T (p.Thr1220Ile)
|
rs1800123
|
0.00006
|
|
NM_000492.4(CFTR):c.4123C>A (p.His1375Asn)
|
rs146947665
|
0.00006
|
|
NM_000492.4(CFTR):c.41A>T (p.Lys14Ile)
|
rs772774651
|
0.00006
|
|
NM_000492.4(CFTR):c.4232A>C (p.Gln1411Pro)
|
rs150177304
|
0.00006
|
|
NM_000492.4(CFTR):c.451C>A (p.Gln151Lys)
|
rs397508720
|
0.00006
|
|
NM_000492.4(CFTR):c.571T>G (p.Phe191Val)
|
rs141482808
|
0.00006
|
|
NM_000492.4(CFTR):c.663G>A (p.Ala221=)
|
rs758147990
|
0.00006
|
|
NM_000492.4(CFTR):c.715G>A (p.Gly239Arg)
|
rs397508788
|
0.00006
|
|
NM_000492.4(CFTR):c.842T>C (p.Met281Thr)
|
rs397508802
|
0.00006
|
|
NM_000492.4(CFTR):c.861C>G (p.Asn287Lys)
|
rs112162204
|
0.00006
|
|
NM_001039958.2(MESP2):c.561G>A (p.Gly187=)
|
rs767474985
|
0.00006
|
|
NM_001111.5(ADAR):c.1741T>C (p.Ser581Pro)
|
rs142884797
|
0.00006
|
|
NM_001111.5(ADAR):c.1766C>G (p.Thr589Arg)
|
rs373667326
|
0.00006
|
|
NM_001111.5(ADAR):c.2275G>A (p.Val759Ile)
|
rs145849344
|
0.00006
|
|
NM_001111.5(ADAR):c.57C>T (p.Gly19=)
|
rs137983302
|
0.00006
|
|
NM_001111.5(ADAR):c.983G>A (p.Arg328Gln)
|
rs371476324
|
0.00006
|
|
NM_001184.4(ATR):c.1624A>G (p.Lys542Glu)
|
rs200491706
|
0.00006
|
|
NM_001184.4(ATR):c.2653G>A (p.Val885Ile)
|
rs141606250
|
0.00006
|
|
NM_001184.4(ATR):c.303T>C (p.Asn101=)
|
rs1397771631
|
0.00006
|
|
NM_001184.4(ATR):c.4730G>T (p.Ser1577Ile)
|
rs140533205
|
0.00006
|
|
NM_001184.4(ATR):c.6126T>C (p.Leu2042=)
|
rs200445478
|
0.00006
|
|
NM_001267550.2(TTN):c.22077A>T (p.Gly7359=)
|
rs202102237
|
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.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.83081G>A (p.Arg27694His)
|
rs775499341
|
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.95406A>G (p.Arg31802=)
|
rs199652273
|
0.00006
|
|
NM_001386140.1(MTTP):c.915G>A (p.Ser305=)
|
rs199716549
|
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_002485.5(NBN):c.127C>T (p.Arg43Ter)
|
rs200287925
|
0.00006
|
|
NM_002485.5(NBN):c.1398-10T>A
|
rs539960851
|
0.00006
|
|
NM_002485.5(NBN):c.1729G>T (p.Asp577Tyr)
|
rs587781881
|
0.00006
|
|
NM_002617.4(PEX10):c.725G>A (p.Arg242Gln)
|
rs142257121
|
0.00006
|
|
NM_004004.6(GJB2):c.23C>T (p.Thr8Met)
|
rs529500747
|
0.00006
|
|
NM_004525.3(LRP2):c.630C>T (p.Asp210=)
|
rs368336310
|
0.00006
|
|
NM_004525.3(LRP2):c.6766G>T (p.Asp2256Tyr)
|
rs143262722
|
0.00006
|
|
NM_004700.4(KCNQ4):c.665G>A (p.Gly222Asp)
|
rs752658856
|
0.00006
|
|
NM_014363.6(SACS):c.12216T>A (p.Thr4072=)
|
rs574182225
|
0.00006
|
|
NM_014363.6(SACS):c.2024A>G (p.Asn675Ser)
|
rs146395198
|
0.00006
|
|
NM_014363.6(SACS):c.2487C>T (p.Asp829=)
|
rs151198216
|
0.00006
|
|
NM_014363.6(SACS):c.2776A>G (p.Ile926Val)
|
rs144362131
|
0.00006
|
|
NM_014363.6(SACS):c.2788A>G (p.Ile930Val)
|
rs886050088
|
0.00006
|
|
NM_014363.6(SACS):c.432G>T (p.Trp144Cys)
|
rs368570790
|
0.00006
|
|
NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu)
|
rs755723511
|
0.00006
|
|
NM_014363.6(SACS):c.8579A>G (p.Asn2860Ser)
|
rs201294520
|
0.00006
|
|
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser)
|
rs371019314
|
0.00006
|
|
NM_014363.6(SACS):c.9550C>T (p.Arg3184Cys)
|
rs143557803
|
0.00006
|
|
NM_014363.6(SACS):c.9903G>T (p.Leu3301=)
|
rs563145604
|
0.00006
|
|
NM_015046.7(SETX):c.234G>A (p.Lys78=)
|
rs146206138
|
0.00006
|
|
NM_015046.7(SETX):c.3207T>A (p.Thr1069=)
|
rs200585636
|
0.00006
|
|
NM_015046.7(SETX):c.3210T>C (p.Leu1070=)
|
rs145014082
|
0.00006
|
|
NM_015046.7(SETX):c.5537G>A (p.Arg1846His)
|
rs373571937
|
0.00006
|
|
NM_015046.7(SETX):c.5712A>G (p.Arg1904=)
|
rs750372437
|
0.00006
|
|
NM_015046.7(SETX):c.5853C>G (p.His1951Gln)
|
rs928020122
|
0.00006
|
|
NM_015046.7(SETX):c.658A>C (p.Lys220Gln)
|
rs761180215
|
0.00006
|
|
NM_015602.4(TOR1AIP1):c.119G>C (p.Ser40Thr)
|
rs768257163
|
0.00006
|
|
NM_015602.4(TOR1AIP1):c.125C>T (p.Ala42Val)
|
rs376697448
|
0.00006
|
|
NM_015602.4(TOR1AIP1):c.37G>A (p.Glu13Lys)
|
rs749592068
|
0.00006
|
|
NM_015602.4(TOR1AIP1):c.66G>A (p.Arg22=)
|
rs763572841
|
0.00006
|
|
NM_018136.5(ASPM):c.10168C>T (p.Arg3390Ter)
|
rs587783211
|
0.00006
|
|
NM_018136.5(ASPM):c.10222C>T (p.His3408Tyr)
|
rs761768584
|
0.00006
|
|
NM_018136.5(ASPM):c.1184A>G (p.Gln395Arg)
|
rs147820821
|
0.00006
|
|
NM_018136.5(ASPM):c.1429G>T (p.Asp477Tyr)
|
rs149162314
|
0.00006
|
|
NM_018136.5(ASPM):c.3955G>T (p.Ala1319Ser)
|
rs376541100
|
0.00006
|
|
NM_018136.5(ASPM):c.4309C>T (p.Arg1437Cys)
|
rs371861473
|
0.00006
|
|
NM_018136.5(ASPM):c.4914G>A (p.Val1638=)
|
rs759159863
|
0.00006
|
|
NM_018136.5(ASPM):c.5471A>G (p.Gln1824Arg)
|
rs62623448
|
0.00006
|
|
NM_018136.5(ASPM):c.6796G>A (p.Ala2266Thr)
|
rs200800956
|
0.00006
|
|
NM_018136.5(ASPM):c.8557C>T (p.Arg2853Trp)
|
rs150424130
|
0.00006
|
|
NM_018136.5(ASPM):c.9223A>C (p.Lys3075Gln)
|
rs747515767
|
0.00006
|
|
NM_018136.5(ASPM):c.9471A>G (p.Glu3157=)
|
rs764291332
|
0.00006
|
|
NM_022095.4(ZNF335):c.1830C>G (p.Leu610=)
|
rs60180055
|
0.00006
|
|
NM_022124.6(CDH23):c.2551G>A (p.Glu851Lys)
|
rs771795434
|
0.00006
|
|
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg)
|
rs199826787
|
0.00006
|
|
NM_138694.4(PKHD1):c.4547C>T (p.Pro1516Leu)
|
rs200278368
|
0.00006
|
|
NM_138694.4(PKHD1):c.5112C>T (p.Cys1704=)
|
rs202010726
|
0.00006
|
|
NM_152618.3(BBS12):c.2014G>A (p.Ala672Thr)
|
rs140895713
|
0.00006
|
|
NM_153676.4(USH1C):c.2269C>T (p.Arg757Cys)
|
rs757163581
|
0.00006
|
|
NM_153700.2(STRC):c.4219-1G>A
|
rs748854592
|
0.00006
|
|
NM_153700.2(STRC):c.4675C>T (p.Gln1559Ter)
|
rs147717802
|
0.00006
|
|
NM_206933.4(USH2A):c.10126T>G (p.Tyr3376Asp)
|
rs150617613
|
0.00006
|
|
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)
|
rs111033264
|
0.00006
|
|
NM_206933.4(USH2A):c.10999A>C (p.Thr3667Pro)
|
rs150822759
|
0.00006
|
|
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)
|
rs527236139
|
0.00006
|
|
NM_206933.4(USH2A):c.11230A>G (p.Arg3744Gly)
|
rs1426369789
|
0.00006
|
|
NM_206933.4(USH2A):c.11366T>C (p.Ile3789Thr)
|
rs183979371
|
0.00006
|
|
NM_206933.4(USH2A):c.12358C>T (p.Arg4120Cys)
|
rs727503718
|
0.00006
|
|
NM_206933.4(USH2A):c.12597T>C (p.Ala4199=)
|
rs202172029
|
0.00006
|
|
NM_206933.4(USH2A):c.12624C>T (p.Asp4208=)
|
rs375223901
|
0.00006
|
|
NM_206933.4(USH2A):c.12667T>C (p.Phe4223Leu)
|
rs150900847
|
0.00006
|
|
NM_206933.4(USH2A):c.13423A>G (p.Arg4475Gly)
|
rs753823008
|
0.00006
|
|
NM_206933.4(USH2A):c.13490T>A (p.Phe4497Tyr)
|
rs145719886
|
0.00006
|
|
NM_206933.4(USH2A):c.1438G>A (p.Val480Ile)
|
rs138694314
|
0.00006
|
|
NM_206933.4(USH2A):c.14398A>G (p.Asn4800Asp)
|
rs370127889
|
0.00006
|
|
NM_206933.4(USH2A):c.14511C>T (p.Ile4837=)
|
rs139847770
|
0.00006
|
|
NM_206933.4(USH2A):c.14957C>T (p.Thr4986Met)
|
rs375429745
|
0.00006
|
|
NM_206933.4(USH2A):c.184G>A (p.Asp62Asn)
|
rs567937233
|
0.00006
|
|
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)
|
rs201527662
|
0.00006
|
|
NM_206933.4(USH2A):c.4886-12C>T
|
rs199823130
|
0.00006
|
|
NM_206933.4(USH2A):c.5496G>A (p.Val1832=)
|
rs146585940
|
0.00006
|
|
NM_206933.4(USH2A):c.5739G>A (p.Glu1913=)
|
rs41277216
|
0.00006
|
|
NM_206933.4(USH2A):c.5789G>A (p.Arg1930Gln)
|
rs200348779
|
0.00006
|
|
NM_206933.4(USH2A):c.5855C>T (p.Ala1952Val)
|
rs773405046
|
0.00006
|
|
NM_206933.4(USH2A):c.586C>T (p.Pro196Ser)
|
rs756041909
|
0.00006
|
|
NM_206933.4(USH2A):c.6279T>C (p.Asp2093=)
|
rs200876799
|
0.00006
|
|
NM_206933.4(USH2A):c.6563C>A (p.Thr2188Lys)
|
rs374409616
|
0.00006
|
|
NM_206933.4(USH2A):c.6724G>A (p.Glu2242Lys)
|
rs375278546
|
0.00006
|
|
NM_206933.4(USH2A):c.6882C>T (p.Tyr2294=)
|
rs147615382
|
0.00006
|
|
NM_206933.4(USH2A):c.7227T>C (p.Thr2409=)
|
rs141917231
|
0.00006
|
|
NM_206933.4(USH2A):c.7616C>T (p.Pro2539Leu)
|
rs147333637
|
0.00006
|
|
NM_206933.4(USH2A):c.7679A>G (p.Asn2560Ser)
|
rs370155266
|
0.00006
|
|
NM_206933.4(USH2A):c.8790T>G (p.Asn2930Lys)
|
rs754774098
|
0.00006
|
|
NM_206933.4(USH2A):c.9356G>A (p.Arg3119His)
|
rs199885325
|
0.00006
|
|
NM_206933.4(USH2A):c.9816G>A (p.Pro3272=)
|
rs745566865
|
0.00006
|
|
NM_206933.4(USH2A):c.9949C>T (p.Arg3317Cys)
|
rs200696560
|
0.00006
|
|
NM_000023.4(SGCA):c.575G>A (p.Arg192Gln)
|
rs200945974
|
0.00005
|
|
NM_000091.5(COL4A3):c.4482G>A (p.Leu1494=)
|
rs181952966
|
0.00005
|
|
NM_000231.3(SGCG):c.101G>A (p.Arg34His)
|
rs755404457
|
0.00005
|
|
NM_000243.3(MEFV):c.1406T>C (p.Val469Ala)
|
rs778686119
|
0.00005
|
|
NM_000243.3(MEFV):c.2337G>C (p.Gly779=)
|
rs104895153
|
0.00005
|
|
NM_000243.3(MEFV):c.460T>C (p.Ser154Pro)
|
rs756975501
|
0.00005
|
|
NM_000317.3(PTS):c.132C>T (p.Asn44=)
|
rs763556416
|
0.00005
|
|
NM_000329.3(RPE65):c.565G>A (p.Val189Ile)
|
rs752990312
|
0.00005
|
|
NM_000337.6(SGCD):c.*5884A>G
|
rs760303963
|
0.00005
|
|
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro)
|
rs62645908
|
0.00005
|
|
NM_000441.2(SLC26A4):c.165-1G>A
|
rs759792660
|
0.00005
|
|
NM_000466.3(PEX1):c.147G>A (p.Val49=)
|
rs202230667
|
0.00005
|
|
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe)
|
rs1800089
|
0.00005
|
|
NM_000492.4(CFTR):c.1691A>G (p.Lys564Arg)
|
rs375325315
|
0.00005
|
|
NM_000492.4(CFTR):c.2042A>T (p.Glu681Val)
|
rs201295415
|
0.00005
|
|
NM_000492.4(CFTR):c.2057C>A (p.Ser686Tyr)
|
rs201444561
|
0.00005
|
|
NM_000492.4(CFTR):c.2450G>T (p.Gly817Val)
|
rs148604667
|
0.00005
|
|
NM_000492.4(CFTR):c.3409A>G (p.Met1137Val)
|
rs397508553
|
0.00005
|
|
NM_001111.5(ADAR):c.1400G>A (p.Arg467His)
|
rs192121167
|
0.00005
|
|
NM_001111.5(ADAR):c.1934+12G>A
|
rs776357782
|
0.00005
|
|
NM_001111.5(ADAR):c.3581C>T (p.Thr1194Met)
|
rs367899281
|
0.00005
|
|
NM_001184.4(ATR):c.1308G>A (p.Ser436=)
|
rs546642861
|
0.00005
|
|
NM_001184.4(ATR):c.1488C>T (p.Val496=)
|
rs774470632
|
0.00005
|
|
NM_001184.4(ATR):c.1878T>C (p.Asp626=)
|
rs370033429
|
0.00005
|
|
NM_001184.4(ATR):c.241C>T (p.Leu81Phe)
|
rs147353060
|
0.00005
|
|
NM_001184.4(ATR):c.2850G>A (p.Pro950=)
|
rs769928724
|
0.00005
|
|
NM_001184.4(ATR):c.3074G>A (p.Arg1025His)
|
rs771309709
|
0.00005
|
|
NM_001184.4(ATR):c.6327C>T (p.Arg2109=)
|
rs147210068
|
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.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_001379286.1(ZNF423):c.1131C>T (p.Ser377=)
|
rs369662414
|
0.00005
|
|
NM_001384140.1(PCDH15):c.131T>C (p.Val44Ala)
|
rs750302536
|
0.00005
|
|
NM_001384140.1(PCDH15):c.2093C>T (p.Thr698Ile)
|
rs200784596
|
0.00005
|
|
NM_001384474.1(LOXHD1):c.1844G>A (p.Arg615Gln)
|
rs546893082
|
0.00005
|
|
NM_001614.5(ACTG1):c.735C>T (p.Gly245=)
|
rs186289501
|
0.00005
|
|
NM_002485.5(NBN):c.1454C>T (p.Thr485Met)
|
rs200891292
|
0.00005
|
|
NM_002485.5(NBN):c.1457C>T (p.Ser486Phe)
|
rs572568222
|
0.00005
|
|
NM_002485.5(NBN):c.52C>A (p.Leu18Ile)
|
rs587781939
|
0.00005
|
|
NM_002485.5(NBN):c.664T>C (p.Phe222Leu)
|
rs541992192
|
0.00005
|
|
NM_004525.3(LRP2):c.3495G>A (p.Ser1165=)
|
rs186494101
|
0.00005
|
|
NM_004700.4(KCNQ4):c.1193A>G (p.Glu398Gly)
|
rs773975779
|
0.00005
|
|
NM_004700.4(KCNQ4):c.1342C>T (p.Arg448Trp)
|
rs535365858
|
0.00005
|
|
NM_004700.4(KCNQ4):c.1499G>A (p.Arg500His)
|
rs201025485
|
0.00005
|
|
NM_014363.6(SACS):c.11884A>T (p.Ile3962Leu)
|
rs746953932
|
0.00005
|
|
NM_014363.6(SACS):c.13039A>G (p.Ile4347Val)
|
rs200939906
|
0.00005
|
|
NM_014363.6(SACS):c.447G>A (p.Ala149=)
|
rs145681117
|
0.00005
|
|
NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys)
|
rs754033201
|
0.00005
|
|
NM_014363.6(SACS):c.7614A>C (p.Ala2538=)
|
rs142697365
|
0.00005
|
|
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu)
|
rs140781535
|
0.00005
|
|
NM_015602.4(TOR1AIP1):c.241G>A (p.Val81Met)
|
rs376847458
|
0.00005
|
|
NM_015602.4(TOR1AIP1):c.638A>G (p.Asn213Ser)
|
rs200495464
|
0.00005
|
|
NM_018136.5(ASPM):c.2532C>T (p.Val844=)
|
rs141716537
|
0.00005
|
|
NM_018136.5(ASPM):c.601A>G (p.Asn201Asp)
|
rs370907931
|
0.00005
|
|
NM_018136.5(ASPM):c.6919C>A (p.Gln2307Lys)
|
rs142865061
|
0.00005
|
|
NM_018136.5(ASPM):c.7002G>T (p.Met2334Ile)
|
rs764918001
|
0.00005
|
|
NM_018136.5(ASPM):c.7635A>G (p.Lys2545=)
|
rs753881432
|
0.00005
|
|
NM_018136.5(ASPM):c.8045G>A (p.Arg2682Gln)
|
rs777169562
|
0.00005
|
|
NM_033056.4(PCDH15):c.5318C>G (p.Pro1773Arg)
|
rs745583797
|
0.00005
|
|
NM_153700.2(STRC):c.3275G>A (p.Cys1092Tyr)
|
rs727503447
|
0.00005
|
|
NM_206933.4(USH2A):c.11390-10C>T
|
rs750110818
|
0.00005
|
|
NM_206933.4(USH2A):c.1346G>A (p.Arg449His)
|
rs766715882
|
0.00005
|
|
NM_206933.4(USH2A):c.13775A>G (p.Gln4592Arg)
|
rs201864716
|
0.00005
|
|
NM_206933.4(USH2A):c.14489C>G (p.Ser4830Ter)
|
rs184351619
|
0.00005
|
|
NM_206933.4(USH2A):c.14904C>T (p.Asp4968=)
|
rs151165599
|
0.00005
|
|
NM_206933.4(USH2A):c.1731C>T (p.Cys577=)
|
rs41313732
|
0.00005
|
|
NM_206933.4(USH2A):c.1816G>C (p.Asp606His)
|
rs111033410
|
0.00005
|
|
NM_206933.4(USH2A):c.2792G>A (p.Cys931Tyr)
|
rs145383772
|
0.00005
|
|
NM_206933.4(USH2A):c.7540A>C (p.Asn2514His)
|
rs777618162
|
0.00005
|
|
NM_206933.4(USH2A):c.8710G>A (p.Val2904Ile)
|
rs142649882
|
0.00005
|
|
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His)
|
rs533700989
|
0.00005
|
|
NM_000023.4(SGCA):c.1155C>T (p.Asp385=)
|
rs183964744
|
0.00004
|
|
NM_000023.4(SGCA):c.466C>T (p.Arg156Cys)
|
rs538696245
|
0.00004
|
|
NM_000023.4(SGCA):c.582A>C (p.Glu194Asp)
|
rs199791980
|
0.00004
|
|
NM_000091.5(COL4A3):c.2282G>A (p.Arg761Lys)
|
rs747356302
|
0.00004
|
|
NM_000243.3(MEFV):c.1060C>T (p.Arg354Trp)
|
rs104895116
|
0.00004
|
|
NM_000243.3(MEFV):c.1130G>A (p.Arg377His)
|
rs144998416
|
0.00004
|
|
NM_000243.3(MEFV):c.1337A>C (p.Glu446Ala)
|
rs749651486
|
0.00004
|
|
NM_000243.3(MEFV):c.1532C>T (p.Ala511Val)
|
rs144270019
|
0.00004
|
|
NM_000243.3(MEFV):c.1957C>T (p.Arg653Cys)
|
rs375716505
|
0.00004
|
|
NM_000243.3(MEFV):c.202C>T (p.Gln68Ter)
|
rs768473920
|
0.00004
|
|
NM_000243.3(MEFV):c.2109C>T (p.Ser703=)
|
rs104895118
|
0.00004
|
|
NM_000243.3(MEFV):c.2111T>G (p.Val704Gly)
|
rs748891586
|
0.00004
|
|
NM_000243.3(MEFV):c.2117C>T (p.Pro706Leu)
|
rs202174893
|
0.00004
|
|
NM_000243.3(MEFV):c.277G>C (p.Glu93Gln)
|
rs138498376
|
0.00004
|
|
NM_000243.3(MEFV):c.311C>G (p.Ser104Cys)
|
rs151306047
|
0.00004
|
|
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)
|
rs104895079
|
0.00004
|
|
NM_000243.3(MEFV):c.611G>A (p.Arg204His)
|
rs775663363
|
0.00004
|
|
NM_000243.3(MEFV):c.775A>G (p.Ile259Val)
|
rs104895144
|
0.00004
|
|
NM_000243.3(MEFV):c.941G>A (p.Arg314His)
|
rs104895204
|
0.00004
|
|
NM_000243.3(MEFV):c.973G>A (p.Gly325Ser)
|
rs146862274
|
0.00004
|
|
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His)
|
rs371029653
|
0.00004
|
|
NM_000277.3(PAH):c.727C>T (p.Arg243Ter)
|
rs5030846
|
0.00004
|
|
NM_000318.3(PEX2):c.140G>C (p.Gly47Ala)
|
rs750212948
|
0.00004
|
|
NM_000337.6(SGCD):c.*7566C>T
|
rs913397406
|
0.00004
|
|
NM_000337.6(SGCD):c.*906C>T
|
rs886060292
|
0.00004
|
|
NM_000337.6(SGCD):c.15G>C (p.Glu5Asp)
|
rs549319429
|
0.00004
|
|
NM_000337.6(SGCD):c.292C>T (p.Pro98Ser)
|
rs1437006739
|
0.00004
|
|
NM_000337.6(SGCD):c.393C>T (p.Ala131=)
|
rs397517922
|
0.00004
|
|
NM_000337.6(SGCD):c.511G>A (p.Gly171Ser)
|
rs764237334
|
0.00004
|
|
NM_000360.4(TH):c.599G>A (p.Arg200His)
|
rs201224335
|
0.00004
|
|
NM_000360.4(TH):c.794G>A (p.Arg265Gln)
|
rs199961079
|
0.00004
|
|
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn)
|
rs121908011
|
0.00004
|
|
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu)
|
rs62645916
|
0.00004
|
|
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter)
|
rs62645917
|
0.00004
|
|
NM_000372.5(TYR):c.1264C>T (p.Arg422Trp)
|
rs749979474
|
0.00004
|
|
NM_000372.5(TYR):c.832C>T (p.Arg278Ter)
|
rs62645904
|
0.00004
|
|
NM_000372.5(TYR):c.980A>G (p.Tyr327Cys)
|
rs1031268531
|
0.00004
|
|
NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser)
|
rs766206507
|
0.00004
|
|
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)
|
rs121908362
|
0.00004
|
|
NM_000441.2(SLC26A4):c.279del (p.Ser93fs)
|
rs786204421
|
0.00004
|
|
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu)
|
rs397516431
|
0.00004
|
|
NM_000492.4(CFTR):c.1210G>C (p.Gly404Arg)
|
rs200899224
|
0.00004
|
|
NM_000492.4(CFTR):c.1227T>C (p.Phe409=)
|
rs778548877
|
0.00004
|
|
NM_000492.4(CFTR):c.1679+9C>G
|
rs775440240
|
0.00004
|
|
NM_000492.4(CFTR):c.1718C>T (p.Ser573Phe)
|
rs772223589
|
0.00004
|
|
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile)
|
rs397508293
|
0.00004
|
|
NM_000492.4(CFTR):c.202A>G (p.Lys68Glu)
|
rs397508332
|
0.00004
|
|
NM_000492.4(CFTR):c.2354G>A (p.Arg785Gln)
|
rs141880790
|
0.00004
|
|
NM_000492.4(CFTR):c.2490+14G>T
|
rs573016418
|
0.00004
|
|
NM_000492.4(CFTR):c.3121A>C (p.Lys1041Gln)
|
rs769448889
|
0.00004
|
|
NM_000492.4(CFTR):c.3169A>G (p.Thr1057Ala)
|
rs397508511
|
0.00004
|
|
NM_000492.4(CFTR):c.3322G>C (p.Val1108Leu)
|
rs397508542
|
0.00004
|
|
NM_000492.4(CFTR):c.355A>G (p.Ile119Val)
|
rs193922518
|
0.00004
|
|
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr)
|
rs201958172
|
0.00004
|
|
NM_000492.4(CFTR):c.393T>C (p.Phe131=)
|
rs1039221071
|
0.00004
|
|
NM_000492.4(CFTR):c.490A>G (p.Thr164Ala)
|
rs200885306
|
0.00004
|
|
NM_000492.4(CFTR):c.638G>A (p.Gly213Glu)
|
rs775701644
|
0.00004
|
|
NM_000492.4(CFTR):c.794T>G (p.Met265Arg)
|
rs148519623
|
0.00004
|
|
NM_000492.4(CFTR):c.926C>G (p.Ala309Gly)
|
rs397508818
|
0.00004
|
|
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu)
|
rs1057517195
|
0.00004
|
|
NM_000553.6(WRN):c.3627T>A (p.Ala1209=)
|
rs780963410
|
0.00004
|
|
NM_001111.5(ADAR):c.1801A>G (p.Thr601Ala)
|
rs556625861
|
0.00004
|
|
NM_001111.5(ADAR):c.2319C>T (p.Cys773=)
|
rs750666914
|
0.00004
|
|
NM_001111.5(ADAR):c.2598C>G (p.Arg866=)
|
rs749389266
|
0.00004
|
|
NM_001130987.2(DYSF):c.2148G>A (p.Ala716=)
|
rs201239189
|
0.00004
|
|
NM_001184.4(ATR):c.24G>A (p.Leu8=)
|
rs373166003
|
0.00004
|
|
NM_001184.4(ATR):c.2922G>A (p.Thr974=)
|
rs763559215
|
0.00004
|
|
NM_001184.4(ATR):c.2941G>A (p.Val981Ile)
|
rs369913351
|
0.00004
|
|
NM_001184.4(ATR):c.3380T>C (p.Leu1127Ser)
|
rs765465161
|
0.00004
|
|
NM_001184.4(ATR):c.3891C>T (p.Val1297=)
|
rs535173549
|
0.00004
|
|
NM_001184.4(ATR):c.3945+2dup
|
rs537031994
|
0.00004
|
|
NM_001184.4(ATR):c.3955A>G (p.Ile1319Val)
|
rs1401271172
|
0.00004
|
|
NM_001184.4(ATR):c.4281T>A (p.Ile1427=)
|
rs374108762
|
0.00004
|
|
NM_001184.4(ATR):c.4490A>G (p.Tyr1497Cys)
|
rs766604943
|
0.00004
|
|
NM_001184.4(ATR):c.5166T>C (p.Tyr1722=)
|
rs368448214
|
0.00004
|
|
NM_001184.4(ATR):c.5217A>G (p.Val1739=)
|
rs759675282
|
0.00004
|
|
NM_001184.4(ATR):c.5271T>C (p.Asn1757=)
|
rs769552527
|
0.00004
|
|
NM_001184.4(ATR):c.5286C>G (p.Asn1762Lys)
|
rs377386677
|
0.00004
|
|
NM_001184.4(ATR):c.5316G>A (p.Thr1772=)
|
rs146463402
|
0.00004
|
|
NM_001184.4(ATR):c.652G>T (p.Ala218Ser)
|
rs978437399
|
0.00004
|
|
NM_001184.4(ATR):c.85G>A (p.Val29Ile)
|
rs746600246
|
0.00004
|
|
NM_001256317.3(TMPRSS3):c.595G>A (p.Val199Met)
|
rs772040483
|
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.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.38256G>A (p.Pro12752=)
|
rs794728014
|
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.82692G>A (p.Ala27564=)
|
rs557628408
|
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_001378454.1(ALMS1):c.1400C>T (p.Thr467Ile)
|
rs201990757
|
0.00004
|
|
NM_001378454.1(ALMS1):c.1420C>A (p.His474Asn)
|
rs200454461
|
0.00004
|
|
NM_001378454.1(ALMS1):c.6076A>G (p.Lys2026Glu)
|
rs191286546
|
0.00004
|
|
NM_001378454.1(ALMS1):c.7276T>G (p.Cys2426Gly)
|
rs549778430
|
0.00004
|
|
NM_001379286.1(ZNF423):c.3517-18T>C
|
rs377719857
|
0.00004
|
|
NM_001384474.1(LOXHD1):c.4978A>G (p.Lys1660Glu)
|
rs868705338
|
0.00004
|
|
NM_001386140.1(MTTP):c.110C>T (p.Thr37Met)
|
rs371307089
|
0.00004
|
|
NM_001386140.1(MTTP):c.64C>T (p.His22Tyr)
|
rs759200881
|
0.00004
|
|
NM_002485.5(NBN):c.-10A>T
|
rs759094270
|
0.00004
|
|
NM_002485.5(NBN):c.1089C>T (p.Tyr363=)
|
rs121908974
|
0.00004
|
|
NM_002485.5(NBN):c.1373A>G (p.Tyr458Cys)
|
rs544909538
|
0.00004
|
|
NM_002485.5(NBN):c.224G>C (p.Gly75Ala)
|
rs587782179
|
0.00004
|
|
NM_002485.5(NBN):c.278C>T (p.Ser93Leu)
|
rs12721593
|
0.00004
|
|
NM_002485.5(NBN):c.481-4G>A
|
rs754864893
|
0.00004
|
|
NM_002485.5(NBN):c.506G>A (p.Arg169His)
|
rs776134250
|
0.00004
|
|
NM_002485.5(NBN):c.595C>T (p.Pro199Ser)
|
rs587780097
|
0.00004
|
|
NM_002485.5(NBN):c.633T>A (p.Asp211Glu)
|
rs377700348
|
0.00004
|
|
NM_002485.5(NBN):c.683T>G (p.Ile228Arg)
|
rs777460725
|
0.00004
|
|
NM_002485.5(NBN):c.721G>A (p.Ala241Thr)
|
rs587781333
|
0.00004
|
|
NM_002485.5(NBN):c.73G>A (p.Val25Ile)
|
rs587781748
|
0.00004
|
|
NM_002485.5(NBN):c.803C>T (p.Thr268Met)
|
rs535602436
|
0.00004
|
|
NM_004525.3(LRP2):c.2485C>T (p.Arg829Trp)
|
rs368619363
|
0.00004
|
|
NM_004525.3(LRP2):c.2813G>A (p.Arg938Gln)
|
rs372927481
|
0.00004
|
|
NM_004525.3(LRP2):c.4544C>T (p.Ala1515Val)
|
rs370313238
|
0.00004
|
|
NM_004525.3(LRP2):c.7431T>C (p.Thr2477=)
|
rs773229933
|
0.00004
|
|
NM_004525.3(LRP2):c.770-12T>C
|
rs138572086
|
0.00004
|
|
NM_014363.6(SACS):c.10576A>G (p.Ile3526Val)
|
rs199881455
|
0.00004
|
|
NM_014363.6(SACS):c.11327T>C (p.Ile3776Thr)
|
rs145188410
|
0.00004
|
|
NM_014363.6(SACS):c.1224C>T (p.Asp408=)
|
rs2274386
|
0.00004
|
|
NM_014363.6(SACS):c.151C>T (p.Leu51=)
|
rs979224977
|
0.00004
|
|
NM_014363.6(SACS):c.1791A>T (p.Ser597=)
|
rs371175405
|
0.00004
|
|
NM_014363.6(SACS):c.1913G>A (p.Cys638Tyr)
|
rs778572943
|
0.00004
|
|
NM_014363.6(SACS):c.2439_2440del (p.Val815fs)
|
rs775059063
|
0.00004
|
|
NM_014363.6(SACS):c.4255A>G (p.Ile1419Val)
|
rs138245586
|
0.00004
|
|
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg)
|
rs376680832
|
0.00004
|
|
NM_014363.6(SACS):c.5832A>G (p.Ala1944=)
|
rs374169472
|
0.00004
|
|
NM_014363.6(SACS):c.5971G>A (p.Val1991Ile)
|
rs191995849
|
0.00004
|
|
NM_014363.6(SACS):c.6030G>T (p.Lys2010Asn)
|
rs769751841
|
0.00004
|
|
NM_014363.6(SACS):c.6561C>T (p.Ile2187=)
|
rs143477126
|
0.00004
|
|
NM_014363.6(SACS):c.7150G>A (p.Glu2384Lys)
|
rs762896797
|
0.00004
|
|
NM_014363.6(SACS):c.8192G>A (p.Arg2731His)
|
rs201127191
|
0.00004
|
|
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala)
|
rs763504656
|
0.00004
|
|
NM_014363.6(SACS):c.8336A>T (p.Gln2779Leu)
|
rs749327297
|
0.00004
|
|
NM_014363.6(SACS):c.9031A>G (p.Ile3011Val)
|
rs377657177
|
0.00004
|
|
NM_014363.6(SACS):c.9090A>G (p.Leu3030=)
|
rs754628665
|
0.00004
|
|
NM_014363.6(SACS):c.9251T>C (p.Ile3084Thr)
|
rs149290718
|
0.00004
|
|
NM_015046.7(SETX):c.1468G>A (p.Val490Ile)
|
rs763545230
|
0.00004
|
|
NM_015046.7(SETX):c.146A>G (p.Lys49Arg)
|
rs142551293
|
0.00004
|
|
NM_015046.7(SETX):c.1626C>T (p.Leu542=)
|
rs746541015
|
0.00004
|
|
NM_015046.7(SETX):c.2176T>C (p.Cys726Arg)
|
rs377734748
|
0.00004
|
|
NM_015046.7(SETX):c.2490A>C (p.Gly830=)
|
rs751429987
|
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.3968G>A (p.Arg1323Gln)
|
rs369542231
|
0.00004
|
|
NM_015046.7(SETX):c.4979A>G (p.His1660Arg)
|
rs371894414
|
0.00004
|
|
NM_015046.7(SETX):c.5591_5592del (p.Gln1864fs)
|
rs776470487
|
0.00004
|
|
NM_015046.7(SETX):c.6910G>T (p.Asp2304Tyr)
|
rs774458684
|
0.00004
|
|
NM_015046.7(SETX):c.7741C>T (p.His2581Tyr)
|
rs530686162
|
0.00004
|
|
NM_015602.4(TOR1AIP1):c.1355A>G (p.Gln452Arg)
|
rs374418323
|
0.00004
|
|
NM_015602.4(TOR1AIP1):c.1456G>A (p.Ala486Thr)
|
rs138345857
|
0.00004
|
|
NM_015602.4(TOR1AIP1):c.252A>T (p.Arg84=)
|
rs140133465
|
0.00004
|
|
NM_015602.4(TOR1AIP1):c.467C>T (p.Ser156Phe)
|
rs759689850
|
0.00004
|
|
NM_017739.4(POMGNT1):c.1927T>G (p.Phe643Val)
|
rs199534074
|
0.00004
|
|
NM_017777.4(MKS1):c.190+2T>C
|
rs375170572
|
0.00004
|
|
NM_018136.5(ASPM):c.10006G>A (p.Val3336Ile)
|
rs951343801
|
0.00004
|
|
NM_018136.5(ASPM):c.10279A>G (p.Ile3427Val)
|
rs886045758
|
0.00004
|
|
NM_018136.5(ASPM):c.1474A>G (p.Ile492Val)
|
rs149075351
|
0.00004
|
|
NM_018136.5(ASPM):c.1681G>A (p.Glu561Lys)
|
rs763648822
|
0.00004
|
|
NM_018136.5(ASPM):c.2824C>T (p.Arg942Cys)
|
rs546095187
|
0.00004
|
|
NM_018136.5(ASPM):c.3811C>T (p.Arg1271Ter)
|
rs140602858
|
0.00004
|
|
NM_018136.5(ASPM):c.4457A>G (p.Tyr1486Cys)
|
rs368020945
|
0.00004
|
|
NM_018136.5(ASPM):c.5302C>T (p.Arg1768Trp)
|
rs770335356
|
0.00004
|
|
NM_018136.5(ASPM):c.5351A>G (p.Tyr1784Cys)
|
rs149376906
|
0.00004
|
|
NM_018136.5(ASPM):c.6568C>T (p.Gln2190Ter)
|
rs199910503
|
0.00004
|
|
NM_018136.5(ASPM):c.7701T>C (p.Tyr2567=)
|
rs544467368
|
0.00004
|
|
NM_018136.5(ASPM):c.9190C>T (p.Arg3064Ter)
|
rs199422185
|
0.00004
|
|
NM_018136.5(ASPM):c.9910C>T (p.Arg3304Ter)
|
rs587783295
|
0.00004
|
|
NM_022124.6(CDH23):c.4183G>A (p.Gly1395Ser)
|
rs749105554
|
0.00004
|
|
NM_022124.6(CDH23):c.8444G>A (p.Arg2815His)
|
rs376835293
|
0.00004
|
|
NM_031885.5(BBS2):c.422A>G (p.Asn141Ser)
|
rs144680278
|
0.00004
|
|
NM_138694.4(PKHD1):c.8286C>T (p.Asp2762=)
|
rs749740610
|
0.00004
|
|
NM_152618.3(BBS12):c.68C>T (p.Ala23Val)
|
rs200240034
|
0.00004
|
|
NM_206933.4(USH2A):c.10931C>T (p.Thr3644Met)
|
rs185823130
|
0.00004
|
|
NM_206933.4(USH2A):c.11134G>A (p.Val3712Ile)
|
rs201951918
|
0.00004
|
|
NM_206933.4(USH2A):c.12895A>C (p.Arg4299=)
|
rs1197075904
|
0.00004
|
|
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del)
|
rs771903291
|
0.00004
|
|
NM_206933.4(USH2A):c.13484G>A (p.Arg4495His)
|
rs550096037
|
0.00004
|
|
NM_206933.4(USH2A):c.1388A>G (p.Tyr463Cys)
|
rs139997881
|
0.00004
|
|
NM_206933.4(USH2A):c.14184C>T (p.Cys4728=)
|
rs200934092
|
0.00004
|
|
NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala)
|
rs749889050
|
0.00004
|
|
NM_206933.4(USH2A):c.14662A>T (p.Thr4888Ser)
|
rs200993435
|
0.00004
|
|
NM_206933.4(USH2A):c.15281C>T (p.Pro5094Leu)
|
rs727503714
|
0.00004
|
|
NM_206933.4(USH2A):c.15343A>G (p.Ile5115Val)
|
rs753175395
|
0.00004
|
|
NM_206933.4(USH2A):c.15369C>T (p.Val5123=)
|
rs142939648
|
0.00004
|
|
NM_206933.4(USH2A):c.1601A>G (p.Tyr534Cys)
|
rs570446209
|
0.00004
|
|
NM_206933.4(USH2A):c.1704C>T (p.Tyr568=)
|
rs766038321
|
0.00004
|
|
NM_206933.4(USH2A):c.1840+9C>T
|
rs1452138200
|
0.00004
|
|
NM_206933.4(USH2A):c.1877G>A (p.Arg626Gln)
|
rs192524347
|
0.00004
|
|
NM_206933.4(USH2A):c.1972-1G>A
|
rs372927796
|
0.00004
|
|
NM_206933.4(USH2A):c.2628T>A (p.Gly876=)
|
rs768522338
|
0.00004
|
|
NM_206933.4(USH2A):c.2726C>A (p.Pro909His)
|
rs752748453
|
0.00004
|
|
NM_206933.4(USH2A):c.2777G>A (p.Arg926His)
|
rs146916397
|
0.00004
|
|
NM_206933.4(USH2A):c.286A>G (p.Thr96Ala)
|
rs557642490
|
0.00004
|
|
NM_206933.4(USH2A):c.3811+10C>A
|
rs769756794
|
0.00004
|
|
NM_206933.4(USH2A):c.3937A>G (p.Asn1313Asp)
|
rs540537272
|
0.00004
|
|
NM_206933.4(USH2A):c.4562G>A (p.Arg1521His)
|
rs770394440
|
0.00004
|
|
NM_206933.4(USH2A):c.486-14G>A
|
rs374536346
|
0.00004
|
|
NM_206933.4(USH2A):c.5410A>G (p.Ile1804Val)
|
rs201804063
|
0.00004
|
|
NM_206933.4(USH2A):c.6397T>C (p.Trp2133Arg)
|
rs370643158
|
0.00004
|
|
NM_206933.4(USH2A):c.6602A>T (p.Gln2201Leu)
|
rs143107117
|
0.00004
|
|
NM_206933.4(USH2A):c.6765C>T (p.Asp2255=)
|
rs767205760
|
0.00004
|
|
NM_206933.4(USH2A):c.7595-2144A>G
|
rs786200928
|
0.00004
|
|
NM_206933.4(USH2A):c.7951A>G (p.Asn2651Asp)
|
rs141134147
|
0.00004
|
|
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg)
|
rs111033280
|
0.00004
|
|
NM_206933.4(USH2A):c.8146G>A (p.Glu2716Lys)
|
rs531822235
|
0.00004
|
|
NM_206933.4(USH2A):c.8935G>A (p.Val2979Ile)
|
rs769479181
|
0.00004
|
|
NM_206933.4(USH2A):c.908G>A (p.Arg303His)
|
rs371777049
|
0.00004
|
|
NM_206933.4(USH2A):c.9240C>A (p.Phe3080Leu)
|
rs397518044
|
0.00004
|
|
NM_206933.4(USH2A):c.9570+1G>A
|
rs760225886
|
0.00004
|
|
NM_000023.4(SGCA):c.1091A>G (p.Asn364Ser)
|
rs756912039
|
0.00003
|
|
NM_000023.4(SGCA):c.1133C>T (p.Ala378Val)
|
rs751466306
|
0.00003
|
|
NM_000023.4(SGCA):c.158-4C>A
|
rs776411719
|
0.00003
|
|
NM_000023.4(SGCA):c.221G>A (p.Arg74Gln)
|
rs779439298
|
0.00003
|
|
NM_000023.4(SGCA):c.293G>A (p.Arg98His)
|
rs137852621
|
0.00003
|
|
NM_000023.4(SGCA):c.34G>A (p.Val12Met)
|
rs766209304
|
0.00003
|
|
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr)
|
rs768814872
|
0.00003
|
|
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro)
|
rs143962150
|
0.00003
|
|
NM_000023.4(SGCA):c.58G>T (p.Asp20Tyr)
|
rs759284746
|
0.00003
|
|
NM_000070.3(CAPN3):c.52C>T (p.Arg18Trp)
|
rs764247865
|
0.00003
|
|
NM_000232.5(SGCB):c.667C>T (p.Arg223Cys)
|
rs570232197
|
0.00003
|
|
NM_000243.3(MEFV):c.1066C>G (p.Gln356Glu)
|
rs377754606
|
0.00003
|
|
NM_000243.3(MEFV):c.1179C>T (p.Pro393=)
|
rs104895082
|
0.00003
|
|
NM_000243.3(MEFV):c.1324T>A (p.Ser442Thr)
|
rs779558690
|
0.00003
|
|
NM_000243.3(MEFV):c.1533G>A (p.Ala511=)
|
rs771061550
|
0.00003
|
|
NM_000243.3(MEFV):c.1758T>C (p.Asn586=)
|
rs202228332
|
0.00003
|
|
NM_000243.3(MEFV):c.1886dup (p.Pro630fs)
|
rs876660997
|
0.00003
|
|
NM_000243.3(MEFV):c.2110G>A (p.Val704Ile)
|
rs104895096
|
0.00003
|
|
NM_000243.3(MEFV):c.2123G>A (p.Arg708His)
|
rs200375017
|
0.00003
|
|
NM_000243.3(MEFV):c.2141C>T (p.Pro714Leu)
|
rs758628487
|
0.00003
|
|
NM_000243.3(MEFV):c.2164G>A (p.Val722Met)
|
rs104895201
|
0.00003
|
|
NM_000243.3(MEFV):c.2263A>G (p.Ile755Val)
|
rs104895194
|
0.00003
|
|
NM_000243.3(MEFV):c.456G>A (p.Gly152=)
|
rs368333568
|
0.00003
|
|
NM_000243.3(MEFV):c.475A>G (p.Ser159Gly)
|
rs797001768
|
0.00003
|
|
NM_000243.3(MEFV):c.489G>T (p.Glu163Asp)
|
rs759997694
|
0.00003
|
|
NM_000243.3(MEFV):c.539C>T (p.Pro180Leu)
|
rs104895134
|
0.00003
|
|
NM_000243.3(MEFV):c.574A>G (p.Arg192Gly)
|
rs745839954
|
0.00003
|
|
NM_000243.3(MEFV):c.833G>A (p.Arg278Gln)
|
rs104895187
|
0.00003
|
|
NM_000260.4(MYO7A):c.3659C>T (p.Pro1220Leu)
|
rs727504710
|
0.00003
|
|
NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val)
|
rs111033511
|
0.00003
|
|
NM_000260.4(MYO7A):c.5368C>T (p.Arg1790Cys)
|
rs777954362
|
0.00003
|
|
NM_000260.4(MYO7A):c.6236G>A (p.Arg2079Gln)
|
rs765083332
|
0.00003
|
|
NM_000271.5(NPC1):c.1039G>A (p.Val347Ile)
|
rs376741451
|
0.00003
|
|
NM_000277.3(PAH):c.526C>T (p.Arg176Ter)
|
rs199475575
|
0.00003
|
|
NM_000277.3(PAH):c.631C>A (p.Pro211Thr)
|
rs62514931
|
0.00003
|
|
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys)
|
rs762894736
|
0.00003
|
|
NM_000317.3(PTS):c.370G>T (p.Val124Leu)
|
rs150726932
|
0.00003
|
|
NM_000317.3(PTS):c.84-291A>G
|
rs1480995114
|
0.00003
|
|
NM_000337.5(SGCD):c.-135C>T
|
rs886060284
|
0.00003
|
|
NM_000337.6(SGCD):c.*3580G>A
|
rs1214313359
|
0.00003
|
|
NM_000337.6(SGCD):c.-43-1G>A
|
rs767016855
|
0.00003
|
|
NM_000337.6(SGCD):c.294+15A>C
|
rs377470284
|
0.00003
|
|
NM_000337.6(SGCD):c.458A>G (p.Asp153Gly)
|
rs752000538
|
0.00003
|
|
NM_000337.6(SGCD):c.494G>A (p.Arg165Gln)
|
rs727503423
|
0.00003
|
|
NM_000337.6(SGCD):c.593G>A (p.Arg198Gln)
|
rs750459196
|
0.00003
|
|
NM_000337.6(SGCD):c.697G>A (p.Glu233Lys)
|
rs768979513
|
0.00003
|
|
NM_000337.6(SGCD):c.699+72A>C
|
rs376317697
|
0.00003
|
|
NM_000337.6(SGCD):c.716C>T (p.Ala239Val)
|
rs377153196
|
0.00003
|
|
NM_000337.6(SGCD):c.731C>T (p.Pro244Leu)
|
rs375159661
|
0.00003
|
|
NM_000337.6(SGCD):c.783C>T (p.Phe261=)
|
rs768741617
|
0.00003
|
|
NM_000337.6(SGCD):c.798C>T (p.Cys266=)
|
rs371850230
|
0.00003
|
|
NM_000372.5(TYR):c.1064C>T (p.Ala355Val)
|
rs151206295
|
0.00003
|
|
NM_000372.5(TYR):c.346C>T (p.Arg116Ter)
|
rs61753256
|
0.00003
|
|
NM_000372.5(TYR):c.533G>A (p.Trp178Ter)
|
rs61754360
|
0.00003
|
|
NM_000441.2(SLC26A4):c.1068C>T (p.Ile356=)
|
rs886061885
|
0.00003
|
|
NM_000441.2(SLC26A4):c.1195T>C (p.Ser399Pro)
|
rs747431002
|
0.00003
|
|
NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro)
|
rs201660407
|
0.00003
|
|
NM_000441.2(SLC26A4):c.2089+1G>A
|
rs727503430
|
0.00003
|
|
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met)
|
rs121908363
|
0.00003
|
|
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly)
|
rs757820624
|
0.00003
|
|
NM_000441.2(SLC26A4):c.601-5C>T
|
rs546450643
|
0.00003
|
|
NM_000492.4(CFTR):c.1117G>A (p.Asp373Asn)
|
rs556880586
|
0.00003
|
|
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe)
|
rs73215912
|
0.00003
|
|
NM_000492.4(CFTR):c.1164G>A (p.Thr388=)
|
rs1800088
|
0.00003
|
|
NM_000492.4(CFTR):c.1253A>G (p.Asn418Ser)
|
rs397508185
|
0.00003
|
|
NM_000492.4(CFTR):c.1429C>T (p.Pro477Ser)
|
rs139054556
|
0.00003
|
|
NM_000492.4(CFTR):c.1450C>T (p.His484Tyr)
|
rs397508210
|
0.00003
|
|
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)
|
rs193922501
|
0.00003
|
|
NM_000492.4(CFTR):c.1582G>A (p.Glu528Lys)
|
rs773018372
|
0.00003
|
|
NM_000492.4(CFTR):c.1630G>A (p.Gly544Ser)
|
rs762224063
|
0.00003
|
|
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly)
|
rs201124247
|
0.00003
|
|
NM_000492.4(CFTR):c.1951G>A (p.Asp651Asn)
|
rs780526529
|
0.00003
|
|
NM_000492.4(CFTR):c.204A>T (p.Lys68Asn)
|
rs397508335
|
0.00003
|
|
NM_000492.4(CFTR):c.2374C>G (p.Arg792Gly)
|
rs145449046
|
0.00003
|
|
NM_000492.4(CFTR):c.2392C>T (p.Pro798Ser)
|
rs138069616
|
0.00003
|
|
NM_000492.4(CFTR):c.246G>A (p.Met82Ile)
|
rs1159096947
|
0.00003
|
|
NM_000492.4(CFTR):c.2476G>A (p.Glu826Lys)
|
rs397508381
|
0.00003
|
|
NM_000492.4(CFTR):c.250T>C (p.Tyr84His)
|
rs745756794
|
0.00003
|
|
NM_000492.4(CFTR):c.264A>C (p.Leu88Phe)
|
rs149662778
|
0.00003
|
|
NM_000492.4(CFTR):c.2659A>C (p.Thr887Pro)
|
rs770359007
|
0.00003
|
|
NM_000492.4(CFTR):c.2736G>A (p.Ser912=)
|
rs200901072
|
0.00003
|
|
NM_000492.4(CFTR):c.2758G>A (p.Val920Met)
|
rs373885282
|
0.00003
|
|
NM_000492.4(CFTR):c.2836A>G (p.Lys946Glu)
|
rs397508443
|
0.00003
|
|
NM_000492.4(CFTR):c.2895C>A (p.Asn965Lys)
|
rs779569793
|
0.00003
|
|
NM_000492.4(CFTR):c.2982C>A (p.Phe994Leu)
|
rs373561883
|
0.00003
|
|
NM_000492.4(CFTR):c.3038C>A (p.Pro1013His)
|
rs193922516
|
0.00003
|
|
NM_000492.4(CFTR):c.3457G>A (p.Val1153Met)
|
rs143120209
|
0.00003
|
|
NM_000492.4(CFTR):c.365A>G (p.Tyr122Cys)
|
rs377295859
|
0.00003
|
|
NM_000492.4(CFTR):c.3877G>A (p.Val1293Ile)
|
rs769931559
|
0.00003
|
|
NM_000492.4(CFTR):c.4031G>C (p.Cys1344Ser)
|
rs368427311
|
0.00003
|
|
NM_000492.4(CFTR):c.4091C>T (p.Ala1364Val)
|
rs397508670
|
0.00003
|
|
NM_000492.4(CFTR):c.4340T>A (p.Val1447Glu)
|
rs1397796355
|
0.00003
|
|
NM_000492.4(CFTR):c.489+8T>G
|
rs727504712
|
0.00003
|
|
NM_000492.4(CFTR):c.697C>G (p.Leu233Val)
|
rs775713428
|
0.00003
|
|
NM_001111.5(ADAR):c.1316A>G (p.Asn439Ser)
|
rs940393676
|
0.00003
|
|
NM_001111.5(ADAR):c.1543G>T (p.Ala515Ser)
|
rs200830156
|
0.00003
|
|
NM_001111.5(ADAR):c.164C>T (p.Pro55Leu)
|
rs187076847
|
0.00003
|
|
NM_001111.5(ADAR):c.642C>T (p.Asp214=)
|
rs781005907
|
0.00003
|
|
NM_001130987.2(DYSF):c.269G>A (p.Arg90Gln)
|
rs370745710
|
0.00003
|
|
NM_001130987.2(DYSF):c.5533C>T (p.Arg1845Trp)
|
rs369627849
|
0.00003
|
|
NM_001184.4(ATR):c.1182C>T (p.Gly394=)
|
rs761676898
|
0.00003
|
|
NM_001184.4(ATR):c.177T>C (p.Thr59=)
|
rs781380334
|
0.00003
|
|
NM_001184.4(ATR):c.1791A>G (p.Pro597=)
|
rs535766576
|
0.00003
|
|
NM_001184.4(ATR):c.1998A>G (p.Val666=)
|
rs572889042
|
0.00003
|
|
NM_001184.4(ATR):c.3335A>G (p.Asp1112Gly)
|
rs778004569
|
0.00003
|
|
NM_001184.4(ATR):c.3340A>G (p.Ile1114Val)
|
rs781663208
|
0.00003
|
|
NM_001184.4(ATR):c.4612C>T (p.Leu1538=)
|
rs770454684
|
0.00003
|
|
NM_001184.4(ATR):c.4846T>G (p.Ser1616Ala)
|
rs201492267
|
0.00003
|
|
NM_001184.4(ATR):c.5145G>A (p.Leu1715=)
|
rs140570011
|
0.00003
|
|
NM_001184.4(ATR):c.5305G>C (p.Glu1769Gln)
|
rs376811787
|
0.00003
|
|
NM_001184.4(ATR):c.5889C>T (p.Leu1963=)
|
rs1032716786
|
0.00003
|
|
NM_001184.4(ATR):c.6459C>T (p.His2153=)
|
rs374110291
|
0.00003
|
|
NM_001184.4(ATR):c.6877A>G (p.Ile2293Val)
|
rs758772379
|
0.00003
|
|
NM_001184.4(ATR):c.7407T>C (p.Tyr2469=)
|
rs775964355
|
0.00003
|
|
NM_001184.4(ATR):c.7621A>C (p.Arg2541=)
|
rs762108631
|
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.96960T>C (p.Ala32320=)
|
rs141431591
|
0.00003
|
|
NM_001378454.1(ALMS1):c.12198G>A (p.Arg4066=)
|
rs199603690
|
0.00003
|
|
NM_001378454.1(ALMS1):c.5724G>C (p.Gln1908His)
|
rs779739318
|
0.00003
|
|
NM_001384140.1(PCDH15):c.3101G>A (p.Arg1034His)
|
rs907693214
|
0.00003
|
|
NM_001384140.1(PCDH15):c.4208A>G (p.Lys1403Arg)
|
rs778508372
|
0.00003
|
|
NM_001384140.1(PCDH15):c.902C>T (p.Thr301Met)
|
rs370933593
|
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_002485.5(NBN):c.1255A>T (p.Asn419Tyr)
|
rs730881849
|
0.00003
|
|
NM_002485.5(NBN):c.1789A>G (p.Ile597Val)
|
rs864622167
|
0.00003
|
|
NM_002485.5(NBN):c.2002A>G (p.Thr668Ala)
|
rs138913151
|
0.00003
|
|
NM_002485.5(NBN):c.2060A>C (p.Lys687Thr)
|
rs186371605
|
0.00003
|
|
NM_002485.5(NBN):c.207A>G (p.Lys69=)
|
rs754352569
|
0.00003
|
|
NM_002485.5(NBN):c.2215C>G (p.Leu739Val)
|
rs370058152
|
0.00003
|
|
NM_002485.5(NBN):c.2226T>A (p.Asp742Glu)
|
rs767523514
|
0.00003
|
|
NM_002485.5(NBN):c.284A>G (p.Asp95Gly)
|
rs545276922
|
0.00003
|
|
NM_002485.5(NBN):c.302T>C (p.Val101Ala)
|
rs185493105
|
0.00003
|
|
NM_002485.5(NBN):c.335C>T (p.Pro112Leu)
|
rs759723870
|
0.00003
|
|
NM_002485.5(NBN):c.37G>A (p.Gly13Arg)
|
rs757112911
|
0.00003
|
|
NM_002485.5(NBN):c.509C>T (p.Pro170Leu)
|
rs587782411
|
0.00003
|
|
NM_002485.5(NBN):c.547G>A (p.Ala183Thr)
|
rs151070415
|
0.00003
|
|
NM_002485.5(NBN):c.613A>G (p.Ile205Val)
|
rs730881845
|
0.00003
|
|
NM_002485.5(NBN):c.702+9G>A
|
rs748373099
|
0.00003
|
|
NM_002485.5(NBN):c.750G>T (p.Arg250Ser)
|
rs758852942
|
0.00003
|
|
NM_002485.5(NBN):c.80G>T (p.Gly27Val)
|
rs755171159
|
0.00003
|
|
NM_002485.5(NBN):c.935T>C (p.Leu312Ser)
|
rs371480039
|
0.00003
|
|
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)
|
rs773528125
|
0.00003
|
|
NM_004525.3(LRP2):c.13002C>T (p.Cys4334=)
|
rs774133574
|
0.00003
|
|
NM_004700.4(KCNQ4):c.682G>T (p.Gly228Cys)
|
rs367890569
|
0.00003
|
|
NM_004700.4(KCNQ4):c.834G>T (p.Thr278=)
|
rs766877660
|
0.00003
|
|
NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser)
|
rs375898103
|
0.00003
|
|
NM_014363.6(SACS):c.10205A>G (p.Asp3402Gly)
|
rs543563990
|
0.00003
|
|
NM_014363.6(SACS):c.10268T>C (p.Ile3423Thr)
|
rs767281295
|
0.00003
|
|
NM_014363.6(SACS):c.10675C>G (p.Pro3559Ala)
|
rs767704103
|
0.00003
|
|
NM_014363.6(SACS):c.1906C>T (p.Arg636Trp)
|
rs201752905
|
0.00003
|
|
NM_014363.6(SACS):c.1941G>T (p.Lys647Asn)
|
rs201021919
|
0.00003
|
|
NM_014363.6(SACS):c.5169A>G (p.Ala1723=)
|
rs200699984
|
0.00003
|
|
NM_014363.6(SACS):c.7101G>A (p.Ala2367=)
|
rs764702321
|
0.00003
|
|
NM_014363.6(SACS):c.7497C>T (p.Val2499=)
|
rs774558627
|
0.00003
|
|
NM_014363.6(SACS):c.8142G>A (p.Ser2714=)
|
rs530250252
|
0.00003
|
|
NM_014363.6(SACS):c.8539C>G (p.Leu2847Val)
|
rs760976439
|
0.00003
|
|
NM_014363.6(SACS):c.8990G>A (p.Arg2997Gln)
|
rs139670073
|
0.00003
|
|
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)
|
rs202199411
|
0.00003
|
|
NM_015046.7(SETX):c.2390A>G (p.Lys797Arg)
|
rs1273786747
|
0.00003
|
|
NM_015046.7(SETX):c.267A>G (p.Ile89Met)
|
rs767232097
|
0.00003
|
|
NM_015046.7(SETX):c.2730A>C (p.Ser910=)
|
rs764898504
|
0.00003
|
|
NM_015046.7(SETX):c.3298A>G (p.Asn1100Asp)
|
rs1230355404
|
0.00003
|
|
NM_015046.7(SETX):c.4291C>G (p.Pro1431Ala)
|
rs371541705
|
0.00003
|
|
NM_015046.7(SETX):c.4417C>T (p.Arg1473Cys)
|
rs781185115
|
0.00003
|
|
NM_015046.7(SETX):c.5781+9T>C
|
rs772671321
|
0.00003
|
|
NM_015046.7(SETX):c.6085A>G (p.Lys2029Glu)
|
rs746525639
|
0.00003
|
|
NM_015046.7(SETX):c.7818C>T (p.Gly2606=)
|
rs764270386
|
0.00003
|
|
NM_015046.7(SETX):c.806C>T (p.Ser269Leu)
|
rs757988188
|
0.00003
|
|
NM_015602.4(TOR1AIP1):c.1651C>G (p.His551Asp)
|
rs756853004
|
0.00003
|
|
NM_015602.4(TOR1AIP1):c.305G>A (p.Ser102Asn)
|
rs375448136
|
0.00003
|
|
NM_015602.4(TOR1AIP1):c.554-1G>A
|
rs200993053
|
0.00003
|
|
NM_015602.4(TOR1AIP1):c.857C>T (p.Thr286Ile)
|
rs767019881
|
0.00003
|
|
NM_017739.4(POMGNT1):c.440G>A (p.Arg147His)
|
rs776165339
|
0.00003
|
|
NM_018136.5(ASPM):c.10057T>C (p.Tyr3353His)
|
rs141240137
|
0.00003
|
|
NM_018136.5(ASPM):c.10331+18G>A
|
rs571179573
|
0.00003
|
|
NM_018136.5(ASPM):c.1825C>G (p.Pro609Ala)
|
rs760610573
|
0.00003
|
|
NM_018136.5(ASPM):c.2080C>T (p.Arg694Cys)
|
rs367946511
|
0.00003
|
|
NM_018136.5(ASPM):c.3698T>C (p.Met1233Thr)
|
rs181039922
|
0.00003
|
|
NM_018136.5(ASPM):c.4024A>G (p.Lys1342Glu)
|
rs779744390
|
0.00003
|
|
NM_018136.5(ASPM):c.4422G>A (p.Trp1474Ter)
|
rs147622433
|
0.00003
|
|
NM_018136.5(ASPM):c.4867A>G (p.Met1623Val)
|
rs369399401
|
0.00003
|
|
NM_018136.5(ASPM):c.6583C>T (p.Leu2195Phe)
|
rs371020085
|
0.00003
|
|
NM_018136.5(ASPM):c.7761T>C (p.Tyr2587=)
|
rs189678019
|
0.00003
|
|
NM_018136.5(ASPM):c.7799A>G (p.Asn2600Ser)
|
rs371852516
|
0.00003
|
|
NM_018136.5(ASPM):c.8683G>A (p.Ala2895Thr)
|
rs775263946
|
0.00003
|
|
NM_018136.5(ASPM):c.9151C>T (p.Arg3051Trp)
|
rs142024644
|
0.00003
|
|
NM_018136.5(ASPM):c.9167C>A (p.Ala3056Asp)
|
rs758869894
|
0.00003
|
|
NM_018136.5(ASPM):c.9553G>C (p.Ala3185Pro)
|
rs375985254
|
0.00003
|
|
NM_022124.6(CDH23):c.1685A>G (p.Gln562Arg)
|
rs397517311
|
0.00003
|
|
NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu)
|
rs576113399
|
0.00003
|
|
NM_031885.5(BBS2):c.1928G>A (p.Arg643His)
|
rs532361142
|
0.00003
|
|
NM_138694.4(PKHD1):c.12188A>G (p.His4063Arg)
|
rs755769277
|
0.00003
|
|
NM_138694.4(PKHD1):c.7361G>A (p.Cys2454Tyr)
|
rs747072396
|
0.00003
|
|
NM_138694.4(PKHD1):c.9524A>G (p.Asn3175Ser)
|
rs1343246818
|
0.00003
|
|
NM_153700.2(STRC):c.4351C>T (p.Arg1451Ter)
|
rs778909195
|
0.00003
|
|
NM_153717.3(EVC):c.1059C>T (p.Ala353=)
|
rs756025432
|
0.00003
|
|
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp)
|
rs397517963
|
0.00003
|
|
NM_206933.4(USH2A):c.10358C>G (p.Thr3453Arg)
|
rs375485721
|
0.00003
|
|
NM_206933.4(USH2A):c.10387+5C>G
|
rs746536041
|
0.00003
|
|
NM_206933.4(USH2A):c.10634G>A (p.Arg3545Gln)
|
rs375978706
|
0.00003
|
|
NM_206933.4(USH2A):c.10684G>T (p.Glu3562Ter)
|
rs749702843
|
0.00003
|
|
NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr)
|
rs780893919
|
0.00003
|
|
NM_206933.4(USH2A):c.12429G>A (p.Ser4143=)
|
rs766310214
|
0.00003
|
|
NM_206933.4(USH2A):c.12701C>T (p.Thr4234Met)
|
rs564240175
|
0.00003
|
|
NM_206933.4(USH2A):c.13250A>G (p.Tyr4417Cys)
|
rs794727826
|
0.00003
|
|
NM_206933.4(USH2A):c.13732A>G (p.Lys4578Glu)
|
rs765354805
|
0.00003
|
|
NM_206933.4(USH2A):c.13832C>T (p.Ala4611Val)
|
rs376077079
|
0.00003
|
|
NM_206933.4(USH2A):c.1449G>A (p.Thr483=)
|
rs755603663
|
0.00003
|
|
NM_206933.4(USH2A):c.15499A>G (p.Met5167Val)
|
rs755573653
|
0.00003
|
|
NM_206933.4(USH2A):c.1585A>C (p.Thr529Pro)
|
rs201332729
|
0.00003
|
|
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg)
|
rs111033273
|
0.00003
|
|
NM_206933.4(USH2A):c.3507G>A (p.Trp1169Ter)
|
rs1064793745
|
0.00003
|
|
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala)
|
rs372081834
|
0.00003
|
|
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe)
|
rs727504652
|
0.00003
|
|
NM_206933.4(USH2A):c.4169C>G (p.Thr1390Arg)
|
rs370430107
|
0.00003
|
|
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter)
|
rs754768875
|
0.00003
|
|
NM_206933.4(USH2A):c.5051C>T (p.Pro1684Leu)
|
rs771088957
|
0.00003
|
|
NM_206933.4(USH2A):c.5130C>T (p.Pro1710=)
|
rs747065891
|
0.00003
|
|
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg)
|
rs1342455785
|
0.00003
|
|
NM_206933.4(USH2A):c.5607A>G (p.Thr1869=)
|
rs779171771
|
0.00003
|
|
NM_206933.4(USH2A):c.5842C>T (p.Arg1948Cys)
|
rs145647517
|
0.00003
|
|
NM_206933.4(USH2A):c.5941A>G (p.Arg1981Gly)
|
rs775877218
|
0.00003
|
|
NM_206933.4(USH2A):c.6043C>T (p.Leu2015Phe)
|
rs370597096
|
0.00003
|
|
NM_206933.4(USH2A):c.627G>A (p.Lys209=)
|
rs146402815
|
0.00003
|
|
NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter)
|
rs398124619
|
0.00003
|
|
NM_206933.4(USH2A):c.7027C>T (p.Arg2343Trp)
|
rs149606872
|
0.00003
|
|
NM_206933.4(USH2A):c.7595-3C>G
|
rs201657446
|
0.00003
|
|
NM_206933.4(USH2A):c.7617G>A (p.Pro2539=)
|
rs773159617
|
0.00003
|
|
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter)
|
rs766590491
|
0.00003
|
|
NM_206933.4(USH2A):c.9244A>G (p.Ile3082Val)
|
rs527689947
|
0.00003
|
|
NM_206933.4(USH2A):c.9291A>C (p.Lys3097Asn)
|
rs143872133
|
0.00003
|
|
NM_206933.4(USH2A):c.9355C>T (p.Arg3119Cys)
|
rs576236830
|
0.00003
|
|
NM_206933.4(USH2A):c.949C>A (p.Arg317=)
|
rs111033272
|
0.00003
|
|
NM_206933.4(USH2A):c.9571-2A>G
|
rs751111524
|
0.00003
|
|
NM_206933.4(USH2A):c.9583G>A (p.Gly3195Arg)
|
rs149027999
|
0.00003
|
|
NM_206933.4(USH2A):c.9990T>C (p.Asn3330=)
|
rs762565385
|
0.00003
|
|
NM_206933.4(USH2A):c.9998A>G (p.Asp3333Gly)
|
rs769233119
|
0.00003
|
|
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys)
|
rs758647756
|
0.00002
|
|
NM_000023.4(SGCA):c.1109G>A (p.Arg370Gln)
|
rs779834721
|
0.00002
|
|
NM_000023.4(SGCA):c.1132G>A (p.Ala378Thr)
|
rs375692868
|
0.00002
|
|
NM_000023.4(SGCA):c.230G>A (p.Arg77His)
|
rs369340251
|
0.00002
|
|
NM_000023.4(SGCA):c.312+5C>T
|
rs377006294
|
0.00002
|
|
NM_000023.4(SGCA):c.724G>A (p.Val242Ile)
|
rs200166783
|
0.00002
|
|
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu)
|
rs534253913
|
0.00002
|
|
NM_000243.3(MEFV):c.1061G>A (p.Arg354Gln)
|
rs763015849
|
0.00002
|
|
NM_000243.3(MEFV):c.1082G>C (p.Arg361Thr)
|
rs190405488
|
0.00002
|
|
NM_000243.3(MEFV):c.1089C>T (p.Ser363=)
|
rs104895170
|
0.00002
|
|
NM_000243.3(MEFV):c.1099C>G (p.Leu367Val)
|
rs1057519328
|
0.00002
|
|
NM_000243.3(MEFV):c.1735C>T (p.Arg579Cys)
|
rs762605919
|
0.00002
|
|
NM_000243.3(MEFV):c.1759+12G>A
|
rs749730274
|
0.00002
|
|
NM_000243.3(MEFV):c.1898C>T (p.Pro633Leu)
|
rs976279218
|
0.00002
|
|
NM_000243.3(MEFV):c.192G>A (p.Glu64=)
|
rs547393490
|
0.00002
|
|
NM_000243.3(MEFV):c.199G>A (p.Val67Met)
|
rs1422054832
|
0.00002
|
|
NM_000243.3(MEFV):c.2103G>A (p.Ala701=)
|
rs104895095
|
0.00002
|
|
NM_000243.3(MEFV):c.2122C>T (p.Arg708Cys)
|
rs104895202
|
0.00002
|
|
NM_000243.3(MEFV):c.2146A>G (p.Lys716Glu)
|
rs746092199
|
0.00002
|
|
NM_000243.3(MEFV):c.239G>A (p.Arg80His)
|
rs201075710
|
0.00002
|
|
NM_000243.3(MEFV):c.265G>A (p.Ala89Thr)
|
rs104895124
|
0.00002
|
|
NM_000243.3(MEFV):c.431G>A (p.Cys144Tyr)
|
rs773320625
|
0.00002
|
|
NM_000243.3(MEFV):c.955G>A (p.Glu319Lys)
|
rs104895110
|
0.00002
|
|
NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp)
|
rs111033233
|
0.00002
|
|
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His)
|
rs200444084
|
0.00002
|
|
NM_000277.3(PAH):c.1065+39G>T
|
rs62510582
|
0.00002
|
|
NM_000277.3(PAH):c.1218A>G (p.Ile406Met)
|
rs773526027
|
0.00002
|
|
NM_000317.3(PTS):c.84-3C>G
|
rs1230781262
|
0.00002
|
|
NM_000318.3(PEX2):c.892G>A (p.Glu298Lys)
|
rs544763390
|
0.00002
|
|
NM_000337.6(SGCD):c.*5749C>T
|
rs886060310
|
0.00002
|
|
NM_000337.6(SGCD):c.1A>G (p.Met1Val)
|
rs756367674
|
0.00002
|
|
NM_000337.6(SGCD):c.298A>C (p.Asn100His)
|
rs1436273126
|
0.00002
|
|
NM_000337.6(SGCD):c.3+2T>A
|
rs753979573
|
0.00002
|
|
NM_000337.6(SGCD):c.32G>A (p.Arg11Gln)
|
rs752548592
|
0.00002
|
|
NM_000337.6(SGCD):c.575+6C>T
|
rs886044432
|
0.00002
|
|
NM_000337.6(SGCD):c.630C>T (p.Ile210=)
|
rs763051644
|
0.00002
|
|
NM_000337.6(SGCD):c.749C>T (p.Ser250Phe)
|
rs781628137
|
0.00002
|
|
NM_000337.6(SGCD):c.786G>A (p.Glu262=)
|
rs1197695649
|
0.00002
|
|
NM_000337.6(SGCD):c.91C>T (p.Arg31Trp)
|
rs202223676
|
0.00002
|
|
NM_000337.6(SGCD):c.98G>A (p.Arg33Gln)
|
rs1488623227
|
0.00002
|
|
NM_000372.5(TYR):c.1037-1G>A
|
rs61754382
|
0.00002
|
|
NM_000372.5(TYR):c.1037-2A>G
|
rs748901196
|
0.00002
|
|
NM_000372.5(TYR):c.265T>C (p.Cys89Arg)
|
rs28940877
|
0.00002
|
|
NM_000391.4(TPP1):c.638C>T (p.Ser213Leu)
|
rs773546205
|
0.00002
|
|
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys)
|
rs147952620
|
0.00002
|
|
NM_000441.2(SLC26A4):c.1341+1G>C
|
rs376653349
|
0.00002
|
|
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His)
|
rs111033254
|
0.00002
|
|
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys)
|
rs763006761
|
0.00002
|
|
NM_000441.2(SLC26A4):c.188G>C (p.Gly63Ala)
|
rs745546618
|
0.00002
|
|
NM_000441.2(SLC26A4):c.1920G>A (p.Trp640Ter)
|
rs368119540
|
0.00002
|
|
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu)
|
rs199588131
|
0.00002
|
|
NM_000441.2(SLC26A4):c.2009T>C (p.Val670Ala)
|
rs200712253
|
0.00002
|
|
NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe)
|
rs760040670
|
0.00002
|
|
NM_000441.2(SLC26A4):c.55del (p.Ser19fs)
|
rs1057516634
|
0.00002
|
|
NM_000492.4(CFTR):c.127G>A (p.Val43Ile)
|
rs370586917
|
0.00002
|
|
NM_000492.4(CFTR):c.1518C>A (p.Ile506=)
|
rs1800092
|
0.00002
|
|
NM_000492.4(CFTR):c.1570T>C (p.Cys524Arg)
|
rs368516826
|
0.00002
|
|
NM_000492.4(CFTR):c.1580A>G (p.Glu527Gly)
|
rs374453187
|
0.00002
|
|
NM_000492.4(CFTR):c.1694A>G (p.Asp565Gly)
|
rs397508270
|
0.00002
|
|
NM_000492.4(CFTR):c.1762G>A (p.Glu588Lys)
|
rs755986694
|
0.00002
|
|
NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn)
|
rs397508300
|
0.00002
|
|
NM_000492.4(CFTR):c.2259C>T (p.Ser753=)
|
rs201888075
|
0.00002
|
|
NM_000492.4(CFTR):c.2490+5G>T
|
rs764466147
|
0.00002
|
|
NM_000492.4(CFTR):c.2629T>G (p.Ser877Ala)
|
rs761531223
|
0.00002
|
|
NM_000492.4(CFTR):c.2687C>T (p.Thr896Ile)
|
rs752617117
|
0.00002
|
|
NM_000492.4(CFTR):c.3650C>T (p.Ala1217Val)
|
rs749662161
|
0.00002
|
|
NM_000492.4(CFTR):c.3710G>A (p.Gly1237Asp)
|
rs751474685
|
0.00002
|
|
NM_000492.4(CFTR):c.3815T>A (p.Val1272Glu)
|
rs752834717
|
0.00002
|
|
NM_000492.4(CFTR):c.3983T>C (p.Ile1328Thr)
|
rs115762793
|
0.00002
|
|
NM_000492.4(CFTR):c.4027G>A (p.Gly1343Ser)
|
rs747324955
|
0.00002
|
|
NM_000492.4(CFTR):c.4045G>A (p.Gly1349Ser)
|
rs201686600
|
0.00002
|
|
NM_000492.4(CFTR):c.417C>T (p.His139=)
|
rs760281820
|
0.00002
|
|
NM_000492.4(CFTR):c.4261G>T (p.Val1421Leu)
|
rs578237673
|
0.00002
|
|
NM_000492.4(CFTR):c.535C>A (p.Gln179Lys)
|
rs367850319
|
0.00002
|
|
NM_000492.4(CFTR):c.627A>G (p.Ala209=)
|
rs397508773
|
0.00002
|
|
NM_000492.4(CFTR):c.76A>G (p.Lys26Glu)
|
rs759726535
|
0.00002
|
|
NM_000492.4(CFTR):c.869+8G>T
|
rs773933167
|
0.00002
|
|
NM_001111.5(ADAR):c.2360C>T (p.Ala787Val)
|
rs367868255
|
0.00002
|
|
NM_001111.5(ADAR):c.2830A>G (p.Lys944Glu)
|
rs373564780
|
0.00002
|
|
NM_001111.5(ADAR):c.500C>T (p.Thr167Ile)
|
rs747418036
|
0.00002
|
|
NM_001111.5(ADAR):c.547G>A (p.Gly183Ser)
|
rs779939725
|
0.00002
|
|
NM_001130987.2(DYSF):c.2192C>T (p.Thr731Met)
|
rs570860273
|
0.00002
|
|
NM_001130987.2(DYSF):c.3176G>A (p.Arg1059His)
|
rs754763074
|
0.00002
|
|
NM_001130987.2(DYSF):c.4867A>G (p.Ile1623Val)
|
rs571364996
|
0.00002
|
|
NM_001130987.2(DYSF):c.5033T>A (p.Leu1678Gln)
|
rs748528655
|
0.00002
|
|
NM_001184.4(ATR):c.1006C>T (p.Arg336Trp)
|
rs886058056
|
0.00002
|
|
NM_001184.4(ATR):c.1223T>G (p.Ile408Ser)
|
rs370058763
|
0.00002
|
|
NM_001184.4(ATR):c.1609T>C (p.Leu537=)
|
rs1577697147
|
0.00002
|
|
NM_001184.4(ATR):c.1803C>G (p.Ser601=)
|
rs758693664
|
0.00002
|
|
NM_001184.4(ATR):c.1842C>T (p.Ala614=)
|
rs376207579
|
0.00002
|
|
NM_001184.4(ATR):c.2158G>A (p.Gly720Ser)
|
rs143633875
|
0.00002
|
|
NM_001184.4(ATR):c.2638G>A (p.Ala880Thr)
|
rs367864862
|
0.00002
|
|
NM_001184.4(ATR):c.2703A>C (p.Ala901=)
|
rs201052932
|
0.00002
|
|
NM_001184.4(ATR):c.3198C>T (p.Ser1066=)
|
rs754127656
|
0.00002
|
|
NM_001184.4(ATR):c.3513G>A (p.Arg1171=)
|
rs1007131838
|
0.00002
|
|
NM_001184.4(ATR):c.3705C>T (p.His1235=)
|
rs745769052
|
0.00002
|
|
NM_001184.4(ATR):c.3963T>C (p.Tyr1321=)
|
rs1295861951
|
0.00002
|
|
NM_001184.4(ATR):c.4308C>T (p.Asn1436=)
|
rs539337477
|
0.00002
|
|
NM_001184.4(ATR):c.4348G>A (p.Val1450Ile)
|
rs755841740
|
0.00002
|
|
NM_001184.4(ATR):c.4376A>G (p.Asn1459Ser)
|
rs144591613
|
0.00002
|
|
NM_001184.4(ATR):c.4575C>T (p.Thr1525=)
|
rs776809771
|
0.00002
|
|
NM_001184.4(ATR):c.4809A>G (p.Lys1603=)
|
rs777880900
|
0.00002
|
|
NM_001184.4(ATR):c.5094A>G (p.Ala1698=)
|
rs1331144637
|
0.00002
|
|
NM_001184.4(ATR):c.5856C>T (p.Leu1952=)
|
rs778730760
|
0.00002
|
|
NM_001184.4(ATR):c.6197G>A (p.Arg2066Gln)
|
rs886058052
|
0.00002
|
|
NM_001184.4(ATR):c.6335G>A (p.Arg2112His)
|
rs535888898
|
0.00002
|
|
NM_001184.4(ATR):c.6800T>C (p.Ile2267Thr)
|
rs775198036
|
0.00002
|
|
NM_001184.4(ATR):c.6855A>G (p.Pro2285=)
|
rs780345174
|
0.00002
|
|
NM_001184.4(ATR):c.6961T>C (p.Phe2321Leu)
|
rs587783338
|
0.00002
|
|
NM_001184.4(ATR):c.7220G>A (p.Arg2407His)
|
rs778835776
|
0.00002
|
|
NM_001184.4(ATR):c.7425C>T (p.Asp2475=)
|
rs749493772
|
0.00002
|
|
NM_001184.4(ATR):c.967G>C (p.Glu323Gln)
|
rs771042068
|
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.39085C>A (p.Pro13029Thr)
|
rs397517553
|
0.00002
|
|
NM_001267550.2(TTN):c.58676T>A (p.Leu19559Gln)
|
rs76604657
|
0.00002
|
|
NM_001267550.2(TTN):c.75745C>T (p.Arg25249Cys)
|
rs397517702
|
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_001378454.1(ALMS1):c.10832A>G (p.Gln3611Arg)
|
rs45452795
|
0.00002
|
|
NM_001384140.1(PCDH15):c.1169A>G (p.Asn390Ser)
|
rs397517450
|
0.00002
|
|
NM_001386140.1(MTTP):c.*38G>A
|
rs561157874
|
0.00002
|
|
NM_001614.5(ACTG1):c.861G>A (p.Val287=)
|
rs558300445
|
0.00002
|
|
NM_002485.5(NBN):c.104T>C (p.Ile35Thr)
|
rs587780773
|
0.00002
|
|
NM_002485.5(NBN):c.1125-3C>T
|
rs587781326
|
0.00002
|
|
NM_002485.5(NBN):c.1204A>G (p.Thr402Ala)
|
rs201373377
|
0.00002
|
|
NM_002485.5(NBN):c.120G>T (p.Ser40=)
|
rs774989816
|
0.00002
|
|
NM_002485.5(NBN):c.133C>G (p.His45Asp)
|
rs773865323
|
0.00002
|
|
NM_002485.5(NBN):c.1430C>T (p.Ser477Leu)
|
rs767123014
|
0.00002
|
|
NM_002485.5(NBN):c.1434C>T (p.Cys478=)
|
rs1060503473
|
0.00002
|
|
NM_002485.5(NBN):c.1484C>T (p.Pro495Leu)
|
rs863224714
|
0.00002
|
|
NM_002485.5(NBN):c.1591A>G (p.Ile531Val)
|
rs587782330
|
0.00002
|
|
NM_002485.5(NBN):c.1667T>A (p.Val556Glu)
|
rs558023830
|
0.00002
|
|
NM_002485.5(NBN):c.1711A>G (p.Lys571Glu)
|
rs587780090
|
0.00002
|
|
NM_002485.5(NBN):c.1845+3A>G
|
rs587780777
|
0.00002
|
|
NM_002485.5(NBN):c.1849G>A (p.Glu617Lys)
|
rs766602873
|
0.00002
|
|
NM_002485.5(NBN):c.1871G>A (p.Arg624His)
|
rs587782297
|
0.00002
|
|
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter)
|
rs587782545
|
0.00002
|
|
NM_002485.5(NBN):c.1925A>G (p.Lys642Arg)
|
rs587781547
|
0.00002
|
|
NM_002485.5(NBN):c.193G>A (p.Val65Ile)
|
rs778998026
|
0.00002
|
|
NM_002485.5(NBN):c.2015C>T (p.Pro672Leu)
|
rs6413508
|
0.00002
|
|
NM_002485.5(NBN):c.2029G>A (p.Asp677Asn)
|
rs730881856
|
0.00002
|
|
NM_002485.5(NBN):c.2036A>G (p.Tyr679Cys)
|
rs370295427
|
0.00002
|
|
NM_002485.5(NBN):c.2070+4G>A
|
rs876660950
|
0.00002
|
|
NM_002485.5(NBN):c.2141G>A (p.Arg714Gln)
|
rs753270166
|
0.00002
|
|
NM_002485.5(NBN):c.24G>A (p.Ala8=)
|
rs779543740
|
0.00002
|
|
NM_002485.5(NBN):c.251A>G (p.Gln84Arg)
|
rs762702597
|
0.00002
|
|
NM_002485.5(NBN):c.254A>G (p.Asn85Ser)
|
rs587780095
|
0.00002
|
|
NM_002485.5(NBN):c.301G>A (p.Val101Met)
|
rs786202139
|
0.00002
|
|
NM_002485.5(NBN):c.775G>A (p.Glu259Lys)
|
rs201559159
|
0.00002
|
|
NM_002485.5(NBN):c.902G>A (p.Gly301Asp)
|
rs749857140
|
0.00002
|
|
NM_002485.5(NBN):c.911C>T (p.Pro304Leu)
|
rs536965870
|
0.00002
|
|
NM_002485.5(NBN):c.929T>C (p.Ile310Thr)
|
rs753812768
|
0.00002
|
|
NM_002485.5(NBN):c.940G>A (p.Val314Met)
|
rs529845940
|
0.00002
|
|
NM_002485.5(NBN):c.949A>G (p.Met317Val)
|
rs587782502
|
0.00002
|
|
NM_004525.3(LRP2):c.13090A>G (p.Thr4364Ala)
|
rs769878611
|
0.00002
|
|
NM_004525.3(LRP2):c.3249C>A (p.His1083Gln)
|
rs2302691
|
0.00002
|
|
NM_004525.3(LRP2):c.39C>T (p.Leu13=)
|
rs529649802
|
0.00002
|
|
NM_004525.3(LRP2):c.8872G>T (p.Asp2958Tyr)
|
rs1303301378
|
0.00002
|
|
NM_004525.3(LRP2):c.910G>A (p.Gly304Arg)
|
rs570052630
|
0.00002
|
|
NM_004700.4(KCNQ4):c.686C>T (p.Ser229Leu)
|
rs1016512710
|
0.00002
|
|
NM_004937.3(CTNS):c.*259C>T
|
rs771746416
|
0.00002
|
|
NM_004937.3(CTNS):c.187C>T (p.Arg63Cys)
|
rs555311279
|
0.00002
|
|
NM_006432.5(NPC2):c.278G>T (p.Cys93Phe)
|
rs143960270
|
0.00002
|
|
NM_014363.6(SACS):c.10485G>A (p.Glu3495=)
|
rs757255802
|
0.00002
|
|
NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser)
|
rs376188585
|
0.00002
|
|
NM_014363.6(SACS):c.2791A>T (p.Asn931Tyr)
|
rs190383030
|
0.00002
|
|
NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile)
|
rs201724656
|
0.00002
|
|
NM_014363.6(SACS):c.6059G>A (p.Gly2020Glu)
|
rs747566710
|
0.00002
|
|
NM_014363.6(SACS):c.6240T>C (p.Val2080=)
|
rs550680855
|
0.00002
|
|
NM_014363.6(SACS):c.6518T>C (p.Ile2173Thr)
|
rs368624188
|
0.00002
|
|
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter)
|
rs281865118
|
0.00002
|
|
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)
|
rs750732115
|
0.00002
|
|
NM_014363.6(SACS):c.8958C>T (p.His2986=)
|
rs758029668
|
0.00002
|
|
NM_015046.7(SETX):c.1467C>T (p.Val489=)
|
rs142093830
|
0.00002
|
|
NM_015046.7(SETX):c.1858A>G (p.Asn620Asp)
|
rs777081940
|
0.00002
|
|
NM_015046.7(SETX):c.2842C>A (p.Pro948Thr)
|
rs778882347
|
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.4113A>G (p.Thr1371=)
|
rs750697305
|
0.00002
|
|
NM_015046.7(SETX):c.4180T>C (p.Ser1394Pro)
|
rs780078856
|
0.00002
|
|
NM_015046.7(SETX):c.5278G>A (p.Ala1760Thr)
|
rs764316153
|
0.00002
|
|
NM_015046.7(SETX):c.5403A>C (p.Lys1801Asn)
|
rs762071010
|
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.5603C>T (p.Pro1868Leu)
|
rs370368422
|
0.00002
|
|
NM_015046.7(SETX):c.6356T>C (p.Val2119Ala)
|
rs781741533
|
0.00002
|
|
NM_015046.7(SETX):c.7967A>G (p.Asn2656Ser)
|
rs745394467
|
0.00002
|
|
NM_018136.5(ASPM):c.10041G>A (p.Leu3347=)
|
rs191340810
|
0.00002
|
|
NM_018136.5(ASPM):c.10295T>A (p.Ile3432Asn)
|
rs794727443
|
0.00002
|
|
NM_018136.5(ASPM):c.1671_1672del (p.Ser557fs)
|
rs587783220
|
0.00002
|
|
NM_018136.5(ASPM):c.1931T>A (p.Ile644Lys)
|
rs759534488
|
0.00002
|
|
NM_018136.5(ASPM):c.2060A>G (p.Lys687Arg)
|
rs763381773
|
0.00002
|
|
NM_018136.5(ASPM):c.2419+2T>C
|
rs587783225
|
0.00002
|
|
NM_018136.5(ASPM):c.2761G>T (p.Ala921Ser)
|
rs765798033
|
0.00002
|
|
NM_018136.5(ASPM):c.2791C>T (p.Arg931Ter)
|
rs587783227
|
0.00002
|
|
NM_018136.5(ASPM):c.309A>G (p.Lys103=)
|
rs587783229
|
0.00002
|
|
NM_018136.5(ASPM):c.3776G>A (p.Arg1259Lys)
|
rs199874115
|
0.00002
|
|
NM_018136.5(ASPM):c.4444C>T (p.Arg1482Trp)
|
rs371997190
|
0.00002
|
|
NM_018136.5(ASPM):c.4591C>T (p.Arg1531Cys)
|
rs780484121
|
0.00002
|
|
NM_018136.5(ASPM):c.5849C>T (p.Ala1950Val)
|
rs368693433
|
0.00002
|
|
NM_018136.5(ASPM):c.6058A>G (p.Thr2020Ala)
|
rs587783253
|
0.00002
|
|
NM_018136.5(ASPM):c.6545T>G (p.Val2182Gly)
|
rs765139526
|
0.00002
|
|
NM_018136.5(ASPM):c.6835A>G (p.Arg2279Gly)
|
rs373818179
|
0.00002
|
|
NM_018136.5(ASPM):c.9578G>A (p.Arg3193His)
|
rs373418682
|
0.00002
|
|
NM_022124.6(CDH23):c.1472C>T (p.Thr491Ile)
|
rs397517307
|
0.00002
|
|
NM_022124.6(CDH23):c.4589C>T (p.Pro1530Leu)
|
rs554938323
|
0.00002
|
|
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr)
|
rs397517334
|
0.00002
|
|
NM_022124.6(CDH23):c.8071T>C (p.Leu2691=)
|
rs767480784
|
0.00002
|
|
NM_031885.5(BBS2):c.2144G>A (p.Arg715Gln)
|
rs761068592
|
0.00002
|
|
NM_138691.3(TMC1):c.821C>T (p.Pro274Leu)
|
rs755694066
|
0.00002
|
|
NM_138694.4(PKHD1):c.1218G>T (p.Glu406Asp)
|
rs748017071
|
0.00002
|
|
NM_138694.4(PKHD1):c.2265G>A (p.Pro755=)
|
rs375603741
|
0.00002
|
|
NM_138694.4(PKHD1):c.3817G>C (p.Ala1273Pro)
|
rs199643308
|
0.00002
|
|
NM_153676.4(USH1C):c.204G>T (p.Leu68=)
|
rs140945339
|
0.00002
|
|
NM_153717.3(EVC):c.2554C>G (p.His852Asp)
|
rs574669392
|
0.00002
|
|
NM_206933.4(USH2A):c.10183-12C>T
|
rs747413632
|
0.00002
|
|
NM_206933.4(USH2A):c.10344A>G (p.Glu3448=)
|
rs760725818
|
0.00002
|
|
NM_206933.4(USH2A):c.10613G>A (p.Arg3538Gln)
|
rs774844491
|
0.00002
|
|
NM_206933.4(USH2A):c.10633C>T (p.Arg3545Trp)
|
rs145718329
|
0.00002
|
|
NM_206933.4(USH2A):c.10820A>C (p.His3607Pro)
|
rs750321557
|
0.00002
|
|
NM_206933.4(USH2A):c.10852G>A (p.Gly3618Ser)
|
rs778158900
|
0.00002
|
|
NM_206933.4(USH2A):c.11048-2A>G
|
rs200871041
|
0.00002
|
|
NM_206933.4(USH2A):c.11714G>A (p.Arg3905His)
|
rs201709470
|
0.00002
|
|
NM_206933.4(USH2A):c.12112A>G (p.Thr4038Ala)
|
rs754979740
|
0.00002
|
|
NM_206933.4(USH2A):c.12128T>G (p.Val4043Gly)
|
rs376528829
|
0.00002
|
|
NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter)
|
rs397517979
|
0.00002
|
|
NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp)
|
rs759898765
|
0.00002
|
|
NM_206933.4(USH2A):c.12295-2A>G
|
rs151148854
|
0.00002
|
|
NM_206933.4(USH2A):c.12361C>T (p.Arg4121Cys)
|
rs772357461
|
0.00002
|
|
NM_206933.4(USH2A):c.12451G>C (p.Asp4151His)
|
rs747947192
|
0.00002
|
|
NM_206933.4(USH2A):c.12724A>G (p.Thr4242Ala)
|
rs140010020
|
0.00002
|
|
NM_206933.4(USH2A):c.13139C>T (p.Thr4380Ile)
|
rs533179037
|
0.00002
|
|
NM_206933.4(USH2A):c.13364C>T (p.Thr4455Ile)
|
rs373152283
|
0.00002
|
|
NM_206933.4(USH2A):c.13621C>T (p.Gln4541Ter)
|
rs765476745
|
0.00002
|
|
NM_206933.4(USH2A):c.14100C>T (p.Ser4700=)
|
rs778162193
|
0.00002
|
|
NM_206933.4(USH2A):c.14625C>T (p.Ala4875=)
|
rs773859845
|
0.00002
|
|
NM_206933.4(USH2A):c.14792-2A>G
|
rs137853923
|
0.00002
|
|
NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met)
|
rs757676723
|
0.00002
|
|
NM_206933.4(USH2A):c.1510C>A (p.His504Asn)
|
rs533024548
|
0.00002
|
|
NM_206933.4(USH2A):c.15547G>A (p.Ala5183Thr)
|
rs267598369
|
0.00002
|
|
NM_206933.4(USH2A):c.15575A>T (p.Lys5192Met)
|
rs761474352
|
0.00002
|
|
NM_206933.4(USH2A):c.1582G>A (p.Asp528Asn)
|
rs551424240
|
0.00002
|
|
NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter)
|
rs757154662
|
0.00002
|
|
NM_206933.4(USH2A):c.274T>G (p.Ser92Ala)
|
rs192918169
|
0.00002
|
|
NM_206933.4(USH2A):c.3086G>T (p.Gly1029Val)
|
rs768158580
|
0.00002
|
|
NM_206933.4(USH2A):c.3316+5G>C
|
rs1442104013
|
0.00002
|
|
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter)
|
rs199679165
|
0.00002
|
|
NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys)
|
rs201529124
|
0.00002
|
|
NM_206933.4(USH2A):c.4803A>T (p.Gln1601His)
|
rs761306493
|
0.00002
|
|
NM_206933.4(USH2A):c.4983T>C (p.Asp1661=)
|
rs111033532
|
0.00002
|
|
NM_206933.4(USH2A):c.5095C>A (p.Gln1699Lys)
|
rs1351926905
|
0.00002
|
|
NM_206933.4(USH2A):c.5538G>C (p.Leu1846=)
|
rs370356689
|
0.00002
|
|
NM_206933.4(USH2A):c.6133C>T (p.His2045Tyr)
|
rs749333215
|
0.00002
|
|
NM_206933.4(USH2A):c.6141G>A (p.Leu2047=)
|
rs727505165
|
0.00002
|
|
NM_206933.4(USH2A):c.6448G>T (p.Val2150Phe)
|
rs756234447
|
0.00002
|
|
NM_206933.4(USH2A):c.6672dup (p.Gly2225fs)
|
rs1284826852
|
0.00002
|
|
NM_206933.4(USH2A):c.6800C>T (p.Pro2267Leu)
|
rs397518027
|
0.00002
|
|
NM_206933.4(USH2A):c.6815C>T (p.Thr2272Met)
|
rs776972526
|
0.00002
|
|
NM_206933.4(USH2A):c.7099G>A (p.Gly2367Arg)
|
rs375744536
|
0.00002
|
|
NM_206933.4(USH2A):c.7183C>T (p.Leu2395Phe)
|
rs372950392
|
0.00002
|
|
NM_206933.4(USH2A):c.7197C>T (p.Ile2399=)
|
rs1305453013
|
0.00002
|
|
NM_206933.4(USH2A):c.7517A>G (p.Tyr2506Cys)
|
rs937606032
|
0.00002
|
|
NM_206933.4(USH2A):c.8222A>G (p.Gln2741Arg)
|
rs374456269
|
0.00002
|
|
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg)
|
rs201863550
|
0.00002
|
|
NM_206933.4(USH2A):c.8486T>C (p.Val2829Ala)
|
rs759063087
|
0.00002
|
|
NM_206933.4(USH2A):c.8741G>A (p.Arg2914Gln)
|
rs760779633
|
0.00002
|
|
NM_206933.4(USH2A):c.8861A>T (p.Gln2954Leu)
|
rs1467856164
|
0.00002
|
|
NM_206933.4(USH2A):c.9089T>C (p.Ile3030Thr)
|
rs876658116
|
0.00002
|
|
NM_206933.4(USH2A):c.9342A>G (p.Pro3114=)
|
rs181961185
|
0.00002
|
|
NM_206933.4(USH2A):c.9371+1G>C
|
rs41308425
|
0.00002
|
|
NM_206933.4(USH2A):c.9415A>G (p.Ile3139Val)
|
rs750899958
|
0.00002
|
|
NM_206933.4(USH2A):c.9806G>A (p.Gly3269Asp)
|
rs762076576
|
0.00002
|
|
NM_000019.4(ACAT1):c.229G>A (p.Glu77Lys)
|
rs772848693
|
0.00001
|
|
NM_000023.4(SGCA):c.1015G>A (p.Gly339Arg)
|
rs540254057
|
0.00001
|
|
NM_000023.4(SGCA):c.101G>A (p.Arg34His)
|
rs371675217
|
0.00001
|
|
NM_000023.4(SGCA):c.1035G>A (p.Arg345=)
|
rs374989747
|
0.00001
|
|
NM_000023.4(SGCA):c.1108C>T (p.Arg370Trp)
|
rs368243053
|
0.00001
|
|
NM_000023.4(SGCA):c.1121G>A (p.Arg374His)
|
rs150524482
|
0.00001
|
|
NM_000023.4(SGCA):c.131C>T (p.Thr44Met)
|
rs770516658
|
0.00001
|
|
NM_000023.4(SGCA):c.147T>C (p.Pro49=)
|
rs745447270
|
0.00001
|
|
NM_000023.4(SGCA):c.157+1G>A
|
rs113109898
|
0.00001
|
|
NM_000023.4(SGCA):c.190G>A (p.Ala64Thr)
|
rs759692350
|
0.00001
|
|
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp)
|
rs757888349
|
0.00001
|
|
NM_000023.4(SGCA):c.312+19A>C
|
rs527959287
|
0.00001
|
|
NM_000023.4(SGCA):c.313-2A>G
|
rs1057516650
|
0.00001
|
|
NM_000023.4(SGCA):c.37+3A>G
|
rs1370709181
|
0.00001
|
|
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)
|
rs372210292
|
0.00001
|
|
NM_000023.4(SGCA):c.422G>A (p.Arg141His)
|
rs1325350236
|
0.00001
|
|
NM_000023.4(SGCA):c.430G>A (p.Asp144Asn)
|
rs771485989
|
0.00001
|
|
NM_000023.4(SGCA):c.488G>C (p.Gly163Ala)
|
rs1356585975
|
0.00001
|
|
NM_000023.4(SGCA):c.502G>A (p.Gly168Arg)
|
rs199810179
|
0.00001
|
|
NM_000023.4(SGCA):c.530del (p.Ser177fs)
|
rs886041387
|
0.00001
|
|
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter)
|
rs387907298
|
0.00001
|
|
NM_000023.4(SGCA):c.585-1G>A
|
rs1342189589
|
0.00001
|
|
NM_000023.4(SGCA):c.592A>G (p.Ile198Val)
|
rs375463037
|
0.00001
|
|
NM_000023.4(SGCA):c.600G>A (p.Val200=)
|
rs764188161
|
0.00001
|
|
NM_000023.4(SGCA):c.700G>A (p.Asp234Asn)
|
rs760608643
|
0.00001
|
|
NM_000023.4(SGCA):c.716A>G (p.His239Arg)
|
rs398123099
|
0.00001
|
|
NM_000023.4(SGCA):c.737A>G (p.Asn246Ser)
|
rs886042858
|
0.00001
|
|
NM_000023.4(SGCA):c.748-2A>T
|
rs1412537279
|
0.00001
|
|
NM_000023.4(SGCA):c.748-3C>T
|
rs794727834
|
0.00001
|
|
NM_000023.4(SGCA):c.847G>C (p.Asp283His)
|
rs766674286
|
0.00001
|
|
NM_000023.4(SGCA):c.89C>T (p.Pro30Leu)
|
rs886043256
|
0.00001
|
|
NM_000057.4(BLM):c.*14A>G
|
rs746586885
|
0.00001
|
|
NM_000057.4(BLM):c.1433G>C (p.Gly478Ala)
|
rs759810567
|
0.00001
|
|
NM_000057.4(BLM):c.1674A>T (p.Ile558=)
|
rs770573584
|
0.00001
|
|
NM_000057.4(BLM):c.2474C>T (p.Pro825Leu)
|
rs749632465
|
0.00001
|
|
NM_000057.4(BLM):c.2872G>A (p.Val958Met)
|
rs775006576
|
0.00001
|
|
NM_000070.3(CAPN3):c.1062G>A (p.Val354=)
|
rs776793553
|
0.00001
|
|
NM_000070.3(CAPN3):c.1478G>A (p.Arg493Gln)
|
rs143583537
|
0.00001
|
|
NM_000070.3(CAPN3):c.398C>T (p.Ala133Val)
|
rs774685118
|
0.00001
|
|
NM_000091.5(COL4A3):c.4753A>G (p.Met1585Val)
|
rs541108316
|
0.00001
|
|
NM_000091.5(COL4A3):c.4756-68A>G
|
rs1042360366
|
0.00001
|
|
NM_000231.3(SGCG):c.267A>G (p.Pro89=)
|
rs149595403
|
0.00001
|
|
NM_000231.3(SGCG):c.547C>T (p.Leu183Phe)
|
rs1425113474
|
0.00001
|
|
NM_000243.3(MEFV):c.1024C>T (p.Pro342Ser)
|
rs774397209
|
0.00001
|
|
NM_000243.3(MEFV):c.1091C>T (p.Pro364Leu)
|
rs104895214
|
0.00001
|
|
NM_000243.3(MEFV):c.1222C>T (p.Arg408Trp)
|
rs758868622
|
0.00001
|
|
NM_000243.3(MEFV):c.1401G>A (p.Glu467=)
|
rs1398639205
|
0.00001
|
|
NM_000243.3(MEFV):c.1485G>A (p.Arg495=)
|
rs1012455878
|
0.00001
|
|
NM_000243.3(MEFV):c.149C>T (p.Pro50Leu)
|
rs144716190
|
0.00001
|
|
NM_000243.3(MEFV):c.1501C>T (p.Arg501Cys)
|
rs104895101
|
0.00001
|
|
NM_000243.3(MEFV):c.1508C>G (p.Ser503Cys)
|
rs190705322
|
0.00001
|
|
NM_000243.3(MEFV):c.1513G>T (p.Asp505Tyr)
|
rs150730718
|
0.00001
|
|
NM_000243.3(MEFV):c.1538T>C (p.Ile513Thr)
|
rs104895199
|
0.00001
|
|
NM_000243.3(MEFV):c.1559A>T (p.Glu520Val)
|
rs769888172
|
0.00001
|
|
NM_000243.3(MEFV):c.1643C>A (p.Thr548Asn)
|
rs550970304
|
0.00001
|
|
NM_000243.3(MEFV):c.1681C>T (p.His561Tyr)
|
rs952604863
|
0.00001
|
|
NM_000243.3(MEFV):c.1744A>C (p.Met582Leu)
|
rs104895165
|
0.00001
|
|
NM_000243.3(MEFV):c.1780C>T (p.Gln594Ter)
|
rs780770024
|
0.00001
|
|
NM_000243.3(MEFV):c.1899G>A (p.Pro633=)
|
rs776315170
|
0.00001
|
|
NM_000243.3(MEFV):c.2065T>C (p.Trp689Arg)
|
rs566082564
|
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.2169C>T (p.Asp723=)
|
rs104895117
|
0.00001
|
|
NM_000243.3(MEFV):c.2314A>G (p.Ile772Val)
|
rs104895163
|
0.00001
|
|
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr)
|
rs104895154
|
0.00001
|
|
NM_000243.3(MEFV):c.233A>G (p.Asn78Ser)
|
rs145015653
|
0.00001
|
|
NM_000243.3(MEFV):c.319T>G (p.Ser107Ala)
|
rs756029520
|
0.00001
|
|
NM_000243.3(MEFV):c.422G>T (p.Ser141Ile)
|
rs104895130
|
0.00001
|
|
NM_000243.3(MEFV):c.426G>C (p.Leu142=)
|
rs1465332482
|
0.00001
|
|
NM_000243.3(MEFV):c.443A>T (p.Glu148Val)
|
rs104895076
|
0.00001
|
|
NM_000243.3(MEFV):c.48G>A (p.Leu16=)
|
rs777381107
|
0.00001
|
|
NM_000243.3(MEFV):c.490A>C (p.Lys164Gln)
|
rs1306636942
|
0.00001
|
|
NM_000243.3(MEFV):c.520A>G (p.Lys174Glu)
|
rs777199024
|
0.00001
|
|
NM_000243.3(MEFV):c.524C>A (p.Pro175His)
|
rs104895126
|
0.00001
|
|
NM_000243.3(MEFV):c.530C>T (p.Thr177Ile)
|
rs104895143
|
0.00001
|
|
NM_000243.3(MEFV):c.536G>A (p.Ser179Asn)
|
rs104895125
|
0.00001
|
|
NM_000243.3(MEFV):c.540G>C (p.Pro180=)
|
rs104895139
|
0.00001
|
|
NM_000243.3(MEFV):c.566G>T (p.Gly189Val)
|
rs923516953
|
0.00001
|
|
NM_000243.3(MEFV):c.608T>C (p.Leu203Pro)
|
rs1959084389
|
0.00001
|
|
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys)
|
rs104895080
|
0.00001
|
|
NM_000243.3(MEFV):c.68A>G (p.Lys23Arg)
|
rs754679070
|
0.00001
|
|
NM_000243.3(MEFV):c.786T>C (p.Thr262=)
|
rs575521131
|
0.00001
|
|
NM_000243.3(MEFV):c.808A>G (p.Asn270Asp)
|
rs753623518
|
0.00001
|
|
NM_000243.3(MEFV):c.828A>C (p.Glu276Asp)
|
rs775020273
|
0.00001
|
|
NM_000243.3(MEFV):c.839G>A (p.Arg280Lys)
|
rs1437746739
|
0.00001
|
|
NM_000243.3(MEFV):c.848C>T (p.Pro283Leu)
|
rs104895119
|
0.00001
|
|
NM_000243.3(MEFV):c.863C>A (p.Ser288Tyr)
|
rs387907567
|
0.00001
|
|
NM_000243.3(MEFV):c.985C>T (p.Arg329Cys)
|
rs757216434
|
0.00001
|
|
NM_000260.4(MYO7A):c.1669A>G (p.Ile557Val)
|
rs1282033456
|
0.00001
|
|
NM_000260.4(MYO7A):c.1708C>T (p.Arg570Ter)
|
rs1591310948
|
0.00001
|
|
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val)
|
rs397516293
|
0.00001
|
|
NM_000260.4(MYO7A):c.2402A>C (p.His801Pro)
|
rs1241891051
|
0.00001
|
|
NM_000260.4(MYO7A):c.2446C>T (p.Arg816Cys)
|
rs781926175
|
0.00001
|
|
NM_000260.4(MYO7A):c.2467C>T (p.Arg823Cys)
|
rs995330889
|
0.00001
|
|
NM_000260.4(MYO7A):c.2797C>T (p.Arg933Cys)
|
rs782189807
|
0.00001
|
|
NM_000260.4(MYO7A):c.3633C>T (p.Tyr1211=)
|
rs762101560
|
0.00001
|
|
NM_000260.4(MYO7A):c.3664G>A (p.Gly1222Ser)
|
rs755771068
|
0.00001
|
|
NM_000260.4(MYO7A):c.3825C>T (p.Asp1275=)
|
rs771896529
|
0.00001
|
|
NM_000260.4(MYO7A):c.4711A>T (p.Thr1571Ser)
|
rs746774239
|
0.00001
|
|
NM_000260.4(MYO7A):c.4734C>T (p.Asp1578=)
|
rs747155741
|
0.00001
|
|
NM_000260.4(MYO7A):c.6203T>G (p.Leu2068Arg)
|
rs779090765
|
0.00001
|
|
NM_000277.3(PAH):c.505C>T (p.Arg169Cys)
|
rs281865440
|
0.00001
|
|
NM_000277.3(PAH):c.781C>T (p.Arg261Ter)
|
rs5030850
|
0.00001
|
|
NM_000277.3(PAH):c.786C>T (p.Val262=)
|
rs776860902
|
0.00001
|
|
NM_000317.3(PTS):c.186+1G>T
|
rs1256819927
|
0.00001
|
|
NM_000317.3(PTS):c.260C>T (p.Pro87Leu)
|
rs765406631
|
0.00001
|
|
NM_000317.3(PTS):c.286G>A (p.Asp96Asn)
|
rs104894280
|
0.00001
|
|
NM_000317.3(PTS):c.297C>A (p.Tyr99Ter)
|
rs145882709
|
0.00001
|
|
NM_000318.3(PEX2):c.666A>G (p.Ser222=)
|
rs1806901488
|
0.00001
|
|
NM_000329.3(RPE65):c.547A>G (p.Ile183Val)
|
rs1010958875
|
0.00001
|
|
NM_000337.6(SGCD):c.*5819G>T
|
rs962759358
|
0.00001
|
|
NM_000337.6(SGCD):c.153C>T (p.Ala51=)
|
rs1021837057
|
0.00001
|
|
NM_000337.6(SGCD):c.31C>T (p.Arg11Trp)
|
rs566181541
|
0.00001
|
|
NM_000337.6(SGCD):c.340A>G (p.Ile114Val)
|
rs760206240
|
0.00001
|
|
NM_000337.6(SGCD):c.352C>A (p.Gln118Lys)
|
rs748107425
|
0.00001
|
|
NM_000337.6(SGCD):c.354G>T (p.Gln118His)
|
rs770930747
|
0.00001
|
|
NM_000337.6(SGCD):c.434C>G (p.Ser145Cys)
|
rs1324593212
|
0.00001
|
|
NM_000337.6(SGCD):c.447C>G (p.Leu149=)
|
rs1257378159
|
0.00001
|
|
NM_000337.6(SGCD):c.475G>A (p.Val159Ile)
|
rs370327314
|
0.00001
|
|
NM_000337.6(SGCD):c.493C>T (p.Arg165Ter)
|
rs121909295
|
0.00001
|
|
NM_000337.6(SGCD):c.506C>T (p.Ala169Val)
|
rs876658001
|
0.00001
|
|
NM_000337.6(SGCD):c.559C>T (p.Pro187Ser)
|
rs769250018
|
0.00001
|
|
NM_000337.6(SGCD):c.632A>G (p.Asn211Ser)
|
rs794727901
|
0.00001
|
|
NM_000337.6(SGCD):c.642T>C (p.Ala214=)
|
rs778303434
|
0.00001
|
|
NM_000337.6(SGCD):c.799G>A (p.Ala267Thr)
|
rs772799792
|
0.00001
|
|
NM_000372.5(TYR):c.1036+1G>A
|
rs763715899
|
0.00001
|
|
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter)
|
rs1013801316
|
0.00001
|
|
NM_000372.5(TYR):c.1111A>T (p.Asn371Tyr)
|
rs61754386
|
0.00001
|
|
NM_000372.5(TYR):c.116G>A (p.Trp39Ter)
|
rs775683960
|
0.00001
|
|
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser)
|
rs104894316
|
0.00001
|
|
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg)
|
rs61754392
|
0.00001
|
|
NM_000372.5(TYR):c.1501dup (p.Arg501fs)
|
rs281865328
|
0.00001
|
|
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr)
|
rs28940879
|
0.00001
|
|
NM_000372.5(TYR):c.61C>T (p.Pro21Ser)
|
rs61753178
|
0.00001
|
|
NM_000372.5(TYR):c.658C>T (p.Gln220Ter)
|
rs797046083
|
0.00001
|
|
NM_000372.5(TYR):c.707G>A (p.Trp236Ter)
|
rs61754367
|
0.00001
|
|
NM_000372.5(TYR):c.74dup (p.Ser26fs)
|
rs1057518763
|
0.00001
|
|
NM_000372.5(TYR):c.880G>A (p.Glu294Lys)
|
rs757754120
|
0.00001
|
|
NM_000414.4(HSD17B4):c.1876T>G (p.Phe626Val)
|
rs1385683079
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1050G>A (p.Leu350=)
|
rs727504993
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val)
|
rs786204474
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1238A>G (p.Gln413Arg)
|
rs142498437
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter)
|
rs397516416
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1511T>C (p.Phe504Ser)
|
rs1298350213
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1614+1G>A
|
rs111033312
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1615-2A>G
|
rs758823761
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1730T>C (p.Val577Ala)
|
rs56017519
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1861A>G (p.Ile621Val)
|
rs559273196
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1909C>A (p.Gln637Lys)
|
rs375645779
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu)
|
rs200455203
|
0.00001
|
|
NM_000441.2(SLC26A4):c.2040C>T (p.Val680=)
|
rs909072667
|
0.00001
|
|
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter)
|
rs752807925
|
0.00001
|
|
NM_000441.2(SLC26A4):c.2185C>T (p.Leu729=)
|
rs758851434
|
0.00001
|
|
NM_000441.2(SLC26A4):c.2319+1G>A
|
rs542079779
|
0.00001
|
|
NM_000441.2(SLC26A4):c.236G>A (p.Arg79Gln)
|
rs200706874
|
0.00001
|
|
NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile)
|
rs786204426
|
0.00001
|
|
NM_000441.2(SLC26A4):c.481T>A (p.Phe161Ile)
|
rs1481765326
|
0.00001
|
|
NM_000441.2(SLC26A4):c.545A>T (p.Asp182Val)
|
rs111033365
|
0.00001
|
|
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile)
|
rs111033348
|
0.00001
|
|
NM_000441.2(SLC26A4):c.678T>C (p.Ala226=)
|
rs773602319
|
0.00001
|
|
NM_000441.2(SLC26A4):c.68C>A (p.Ser23Ter)
|
rs397516430
|
0.00001
|
|
NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg)
|
rs539699299
|
0.00001
|
|
NM_000441.2(SLC26A4):c.916dup (p.Val306fs)
|
rs768245266
|
0.00001
|
|
NM_000441.2(SLC26A4):c.918+2T>C
|
rs912147281
|
0.00001
|
|
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp)
|
rs866184460
|
0.00001
|
|
NM_000466.3(PEX1):c.3166T>C (p.Leu1056=)
|
rs1009877821
|
0.00001
|
|
NM_000492.4(CFTR):c.1039C>T (p.Arg347Cys)
|
rs397508147
|
0.00001
|
|
NM_000492.4(CFTR):c.1081T>C (p.Trp361Arg)
|
rs397508154
|
0.00001
|
|
NM_000492.4(CFTR):c.1137A>C (p.Glu379Asp)
|
rs774308232
|
0.00001
|
|
NM_000492.4(CFTR):c.1209+6A>G
|
rs749054857
|
0.00001
|
|
NM_000492.4(CFTR):c.1219G>A (p.Glu407Lys)
|
rs766063304
|
0.00001
|
|
NM_000492.4(CFTR):c.1310G>A (p.Gly437Asp)
|
rs765791986
|
0.00001
|
|
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser)
|
rs397508187
|
0.00001
|
|
NM_000492.4(CFTR):c.1343T>C (p.Ile448Thr)
|
rs748642635
|
0.00001
|
|
NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn)
|
rs758900656
|
0.00001
|
|
NM_000492.4(CFTR):c.1430C>A (p.Pro477His)
|
rs886044297
|
0.00001
|
|
NM_000492.4(CFTR):c.1437G>C (p.Glu479Asp)
|
rs754152822
|
0.00001
|
|
NM_000492.4(CFTR):c.1499G>A (p.Gly500Asp)
|
rs774945680
|
0.00001
|
|
NM_000492.4(CFTR):c.149C>A (p.Ser50Tyr)
|
rs397508220
|
0.00001
|
|
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr)
|
rs397508224
|
0.00001
|
|
NM_000492.4(CFTR):c.1545T>C (p.Tyr515=)
|
rs747504631
|
0.00001
|
|
NM_000492.4(CFTR):c.1601C>A (p.Ala534Glu)
|
rs387906368
|
0.00001
|
|
NM_000492.4(CFTR):c.1606A>G (p.Lys536Glu)
|
rs148173473
|
0.00001
|
|
NM_000492.4(CFTR):c.164+12T>C
|
rs121908790
|
0.00001
|
|
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr)
|
rs773569201
|
0.00001
|
|
NM_000492.4(CFTR):c.1912C>T (p.Pro638Ser)
|
rs1368033715
|
0.00001
|
|
NM_000492.4(CFTR):c.2055A>G (p.Gln685=)
|
rs1457520634
|
0.00001
|
|
NM_000492.4(CFTR):c.2168G>T (p.Gly723Val)
|
rs200531709
|
0.00001
|
|
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe)
|
rs186089140
|
0.00001
|
|
NM_000492.4(CFTR):c.2251C>T (p.Arg751Cys)
|
rs772661780
|
0.00001
|
|
NM_000492.4(CFTR):c.2255T>G (p.Ile752Ser)
|
rs766541549
|
0.00001
|
|
NM_000492.4(CFTR):c.2280G>A (p.Thr760=)
|
rs138634146
|
0.00001
|
|
NM_000492.4(CFTR):c.2327C>T (p.Ser776Leu)
|
rs397508365
|
0.00001
|
|
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly)
|
rs397508375
|
0.00001
|
|
NM_000492.4(CFTR):c.2428A>G (p.Arg810Gly)
|
rs377447726
|
0.00001
|
|
NM_000492.4(CFTR):c.2433G>T (p.Arg811Ser)
|
rs778688276
|
0.00001
|
|
NM_000492.4(CFTR):c.2526A>G (p.Ala842=)
|
rs758128209
|
0.00001
|
|
NM_000492.4(CFTR):c.260T>C (p.Phe87Ser)
|
rs1310658028
|
0.00001
|
|
NM_000492.4(CFTR):c.2672A>G (p.Asp891Gly)
|
rs766181463
|
0.00001
|
|
NM_000492.4(CFTR):c.2679G>T (p.Gly893=)
|
rs397508419
|
0.00001
|
|
NM_000492.4(CFTR):c.273+4A>G
|
rs387906374
|
0.00001
|
|
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly)
|
rs397508436
|
0.00001
|
|
NM_000492.4(CFTR):c.2808A>G (p.Pro936=)
|
rs397508438
|
0.00001
|
|
NM_000492.4(CFTR):c.2835G>A (p.Ser945=)
|
rs193922513
|
0.00001
|
|
NM_000492.4(CFTR):c.2946T>G (p.Ile982Met)
|
rs748430234
|
0.00001
|
|
NM_000492.4(CFTR):c.2973A>G (p.Ile991Met)
|
rs370181570
|
0.00001
|
|
NM_000492.4(CFTR):c.2981T>G (p.Phe994Cys)
|
rs397508469
|
0.00001
|
|
NM_000492.4(CFTR):c.3083T>G (p.Met1028Arg)
|
rs397508494
|
0.00001
|
|
NM_000492.4(CFTR):c.3139+3A>G
|
rs950336425
|
0.00001
|
|
NM_000492.4(CFTR):c.3158C>T (p.Thr1053Ile)
|
rs140883683
|
0.00001
|
|
NM_000492.4(CFTR):c.3238A>C (p.Lys1080Gln)
|
rs766126240
|
0.00001
|
|
NM_000492.4(CFTR):c.3267G>C (p.Trp1089Cys)
|
rs150020260
|
0.00001
|
|
NM_000492.4(CFTR):c.3350T>C (p.Ile1117Thr)
|
rs751853765
|
0.00001
|
|
NM_000492.4(CFTR):c.335A>G (p.Asp112Gly)
|
rs770241677
|
0.00001
|
|
NM_000492.4(CFTR):c.3368-20C>T
|
rs761144879
|
0.00001
|
|
NM_000492.4(CFTR):c.3380G>A (p.Gly1127Glu)
|
rs1434504483
|
0.00001
|
|
NM_000492.4(CFTR):c.3391A>G (p.Ile1131Val)
|
rs755472768
|
0.00001
|
|
NM_000492.4(CFTR):c.3407C>T (p.Ala1136Val)
|
rs1562916044
|
0.00001
|
|
NM_000492.4(CFTR):c.3444C>A (p.Asn1148Lys)
|
rs397508565
|
0.00001
|
|
NM_000492.4(CFTR):c.3468+6T>C
|
rs547442588
|
0.00001
|
|
NM_000492.4(CFTR):c.3607A>G (p.Ile1203Val)
|
rs75647395
|
0.00001
|
|
NM_000492.4(CFTR):c.3682G>C (p.Glu1228Gln)
|
rs759116351
|
0.00001
|
|
NM_000492.4(CFTR):c.3713A>G (p.Gln1238Arg)
|
rs397508594
|
0.00001
|
|
NM_000492.4(CFTR):c.3762A>T (p.Leu1254Phe)
|
rs768411899
|
0.00001
|
|
NM_000492.4(CFTR):c.3895A>G (p.Thr1299Ala)
|
rs750604866
|
0.00001
|
|
NM_000492.4(CFTR):c.3935A>G (p.Asp1312Gly)
|
rs397508646
|
0.00001
|
|
NM_000492.4(CFTR):c.4064G>T (p.Cys1355Phe)
|
rs755028771
|
0.00001
|
|
NM_000492.4(CFTR):c.40A>G (p.Lys14Glu)
|
rs397508673
|
0.00001
|
|
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro)
|
rs397508674
|
0.00001
|
|
NM_000492.4(CFTR):c.4159A>G (p.Thr1387Ala)
|
rs1455404428
|
0.00001
|
|
NM_000492.4(CFTR):c.416A>C (p.His139Pro)
|
rs76371115
|
0.00001
|
|
NM_000492.4(CFTR):c.4207A>G (p.Arg1403Gly)
|
rs970498675
|
0.00001
|
|
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys)
|
rs397508699
|
0.00001
|
|
NM_000492.4(CFTR):c.4237T>C (p.Phe1413Leu)
|
rs142092183
|
0.00001
|
|
NM_000492.4(CFTR):c.4277C>T (p.Ser1426Phe)
|
rs762847468
|
0.00001
|
|
NM_000492.4(CFTR):c.4297G>A (p.Glu1433Lys)
|
rs750559671
|
0.00001
|
|
NM_000492.4(CFTR):c.4312C>T (p.Arg1438Trp)
|
rs397508711
|
0.00001
|
|
NM_000492.4(CFTR):c.4313G>A (p.Arg1438Gln)
|
rs975983947
|
0.00001
|
|
NM_000492.4(CFTR):c.4322T>C (p.Ile1441Thr)
|
rs766659587
|
0.00001
|
|
NM_000492.4(CFTR):c.436C>T (p.His146Tyr)
|
rs1798856136
|
0.00001
|
|
NM_000492.4(CFTR):c.441C>G (p.His147Gln)
|
rs759310470
|
0.00001
|
|
NM_000492.4(CFTR):c.4436G>A (p.Arg1479Lys)
|
rs1325117166
|
0.00001
|
|
NM_000492.4(CFTR):c.473G>C (p.Ser158Thr)
|
rs397508725
|
0.00001
|
|
NM_000492.4(CFTR):c.538C>G (p.Leu180Val)
|
rs374163420
|
0.00001
|
|
NM_000492.4(CFTR):c.581G>T (p.Gly194Val)
|
rs397508763
|
0.00001
|
|
NM_000492.4(CFTR):c.648G>T (p.Trp216Cys)
|
rs397508776
|
0.00001
|
|
NM_000492.4(CFTR):c.725G>A (p.Arg242Lys)
|
rs758012554
|
0.00001
|
|
NM_000492.4(CFTR):c.744-6T>G
|
rs878854022
|
0.00001
|
|
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr)
|
rs397508804
|
0.00001
|
|
NM_000492.4(CFTR):c.869+5G>A
|
rs533959068
|
0.00001
|
|
NM_000492.4(CFTR):c.925G>A (p.Ala309Thr)
|
rs148013312
|
0.00001
|
|
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu)
|
rs75763344
|
0.00001
|
|
NM_000492.4(CFTR):c.944T>C (p.Phe315Ser)
|
rs760319837
|
0.00001
|
|
NM_000492.4(CFTR):c.94C>A (p.Leu32Met)
|
rs776797377
|
0.00001
|
|
NM_000492.4(CFTR):c.960A>T (p.Leu320Phe)
|
rs56093012
|
0.00001
|
|
NM_000492.4(CFTR):c.980T>G (p.Leu327Arg)
|
rs141115171
|
0.00001
|
|
NM_000492.4(CFTR):c.992T>A (p.Ile331Asn)
|
rs397508825
|
0.00001
|
|
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln)
|
rs763566905
|
0.00001
|
|
NM_000543.5(SMPD1):c.152A>T (p.Asp51Val)
|
rs748589919
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala)
|
rs200883871
|
0.00001
|
|
NM_001079802.2(FKTN):c.366T>G (p.Asn122Lys)
|
rs150591365
|
0.00001
|
|
NM_001083961.2(WDR62):c.699+16T>C
|
rs201300686
|
0.00001
|
|
NM_001111.5(ADAR):c.1049C>T (p.Pro350Leu)
|
rs763695856
|
0.00001
|
|
NM_001111.5(ADAR):c.1062T>G (p.His354Gln)
|
rs767103774
|
0.00001
|
|
NM_001111.5(ADAR):c.1097A>G (p.Lys366Arg)
|
rs770795921
|
0.00001
|
|
NM_001111.5(ADAR):c.1189T>A (p.Ser397Thr)
|
rs1190740301
|
0.00001
|
|
NM_001111.5(ADAR):c.1207A>G (p.Met403Val)
|
rs762748379
|
0.00001
|
|
NM_001111.5(ADAR):c.1421G>A (p.Arg474Gln)
|
rs759679549
|
0.00001
|
|
NM_001111.5(ADAR):c.2242G>A (p.Asp748Asn)
|
rs754538298
|
0.00001
|
|
NM_001111.5(ADAR):c.2433_2434del (p.Ala813fs)
|
rs779357448
|
0.00001
|
|
NM_001111.5(ADAR):c.2496+8C>T
|
rs770464278
|
0.00001
|
|
NM_001111.5(ADAR):c.2548C>T (p.Arg850Trp)
|
rs762568334
|
0.00001
|
|
NM_001111.5(ADAR):c.2549G>A (p.Arg850Gln)
|
rs750048114
|
0.00001
|
|
NM_001111.5(ADAR):c.2669-9C>T
|
rs777184958
|
0.00001
|
|
NM_001111.5(ADAR):c.2920A>G (p.Lys974Glu)
|
rs886045339
|
0.00001
|
|
NM_001111.5(ADAR):c.2960G>A (p.Arg987His)
|
rs760200045
|
0.00001
|
|
NM_001111.5(ADAR):c.3095G>A (p.Arg1032His)
|
rs773129591
|
0.00001
|
|
NM_001111.5(ADAR):c.415C>G (p.Gln139Glu)
|
rs1463382499
|
0.00001
|
|
NM_001111.5(ADAR):c.434A>G (p.Lys145Arg)
|
rs763767761
|
0.00001
|
|
NM_001130987.2(DYSF):c.1639C>T (p.Pro547Ser)
|
rs559177313
|
0.00001
|
|
NM_001130987.2(DYSF):c.1905C>T (p.Ile635=)
|
rs567956595
|
0.00001
|
|
NM_001130987.2(DYSF):c.5605C>T (p.Leu1869Phe)
|
rs1486691301
|
0.00001
|
|
NM_001130987.2(DYSF):c.884A>G (p.Asn295Ser)
|
rs777785781
|
0.00001
|
|
NM_001184.4(ATR):c.1002C>T (p.Leu334=)
|
rs1199866818
|
0.00001
|
|
NM_001184.4(ATR):c.109C>A (p.Leu37Met)
|
rs2035133075
|
0.00001
|
|
NM_001184.4(ATR):c.10C>T (p.His4Tyr)
|
rs373534503
|
0.00001
|
|
NM_001184.4(ATR):c.1165G>A (p.Ala389Thr)
|
rs771295593
|
0.00001
|
|
NM_001184.4(ATR):c.121A>G (p.Ile41Val)
|
rs2035132364
|
0.00001
|
|
NM_001184.4(ATR):c.1285C>T (p.Pro429Ser)
|
rs764970007
|
0.00001
|
|
NM_001184.4(ATR):c.1335A>G (p.Pro445=)
|
rs373034384
|
0.00001
|
|
NM_001184.4(ATR):c.1350-3T>C
|
rs587783323
|
0.00001
|
|
NM_001184.4(ATR):c.1368G>A (p.Met456Ile)
|
rs1378223602
|
0.00001
|
|
NM_001184.4(ATR):c.139G>C (p.Asp47His)
|
rs1317279719
|
0.00001
|
|
NM_001184.4(ATR):c.1407A>G (p.Lys469=)
|
rs1426268344
|
0.00001
|
|
NM_001184.4(ATR):c.1439G>T (p.Ser480Ile)
|
rs750056135
|
0.00001
|
|
NM_001184.4(ATR):c.1482T>C (p.Ala494=)
|
rs1485392394
|
0.00001
|
|
NM_001184.4(ATR):c.1503T>A (p.Ala501=)
|
rs747926818
|
0.00001
|
|
NM_001184.4(ATR):c.1566T>C (p.His522=)
|
rs756945349
|
0.00001
|
|
NM_001184.4(ATR):c.1608A>G (p.Ser536=)
|
rs976136379
|
0.00001
|
|
NM_001184.4(ATR):c.1643G>A (p.Arg548Lys)
|
rs1374321250
|
0.00001
|
|
NM_001184.4(ATR):c.1678G>C (p.Glu560Gln)
|
rs772100771
|
0.00001
|
|
NM_001184.4(ATR):c.1810G>C (p.Asp604His)
|
rs750939829
|
0.00001
|
|
NM_001184.4(ATR):c.1858T>C (p.Leu620=)
|
rs770769122
|
0.00001
|
|
NM_001184.4(ATR):c.1883A>G (p.Tyr628Cys)
|
rs769300741
|
0.00001
|
|
NM_001184.4(ATR):c.1966T>C (p.Tyr656His)
|
rs1052378174
|
0.00001
|
|
NM_001184.4(ATR):c.196G>A (p.Val66Met)
|
rs758564083
|
0.00001
|
|
NM_001184.4(ATR):c.1972T>C (p.Trp658Arg)
|
rs372411144
|
0.00001
|
|
NM_001184.4(ATR):c.1975G>A (p.Ala659Thr)
|
rs758152041
|
0.00001
|
|
NM_001184.4(ATR):c.2073T>A (p.Ile691=)
|
rs773660116
|
0.00001
|
|
NM_001184.4(ATR):c.2092G>A (p.Asp698Asn)
|
rs1553770633
|
0.00001
|
|
NM_001184.4(ATR):c.2143G>T (p.Val715Phe)
|
rs1177859208
|
0.00001
|
|
NM_001184.4(ATR):c.2157C>T (p.His719=)
|
rs150161871
|
0.00001
|
|
NM_001184.4(ATR):c.2220C>G (p.Leu740=)
|
rs1456465949
|
0.00001
|
|
NM_001184.4(ATR):c.2382T>C (p.Asp794=)
|
rs1428773406
|
0.00001
|
|
NM_001184.4(ATR):c.2403T>A (p.Asp801Glu)
|
rs1441471018
|
0.00001
|
|
NM_001184.4(ATR):c.2608A>G (p.Ile870Val)
|
rs763994421
|
0.00001
|
|
NM_001184.4(ATR):c.2664A>G (p.Ala888=)
|
rs767374235
|
0.00001
|
|
NM_001184.4(ATR):c.2681A>G (p.His894Arg)
|
rs774278641
|
0.00001
|
|
NM_001184.4(ATR):c.2684G>A (p.Cys895Tyr)
|
rs1202782083
|
0.00001
|
|
NM_001184.4(ATR):c.2691A>G (p.Leu897=)
|
rs762515742
|
0.00001
|
|
NM_001184.4(ATR):c.2856T>A (p.Thr952=)
|
rs1291323281
|
0.00001
|
|
NM_001184.4(ATR):c.2874C>T (p.Asp958=)
|
rs758389323
|
0.00001
|
|
NM_001184.4(ATR):c.2958T>C (p.Asp986=)
|
rs143919996
|
0.00001
|
|
NM_001184.4(ATR):c.2979G>A (p.Arg993=)
|
rs376960547
|
0.00001
|
|
NM_001184.4(ATR):c.3014A>G (p.Lys1005Arg)
|
rs749139052
|
0.00001
|
|
NM_001184.4(ATR):c.3152G>A (p.Arg1051His)
|
rs770645649
|
0.00001
|
|
NM_001184.4(ATR):c.31A>G (p.Met11Val)
|
rs1166368568
|
0.00001
|
|
NM_001184.4(ATR):c.3330G>A (p.Pro1110=)
|
rs771643731
|
0.00001
|
|
NM_001184.4(ATR):c.3364T>A (p.Tyr1122Asn)
|
rs1208889130
|
0.00001
|
|
NM_001184.4(ATR):c.3458A>G (p.Asn1153Ser)
|
rs563040643
|
0.00001
|
|
NM_001184.4(ATR):c.3584C>T (p.Ala1195Val)
|
rs1389009165
|
0.00001
|
|
NM_001184.4(ATR):c.3611A>G (p.Asp1204Gly)
|
rs749952876
|
0.00001
|
|
NM_001184.4(ATR):c.3646A>G (p.Ile1216Val)
|
rs1300617940
|
0.00001
|
|
NM_001184.4(ATR):c.3690T>C (p.Thr1230=)
|
rs776691983
|
0.00001
|
|
NM_001184.4(ATR):c.3727G>T (p.Asp1243Tyr)
|
rs756859157
|
0.00001
|
|
NM_001184.4(ATR):c.3765A>G (p.Leu1255=)
|
rs758810736
|
0.00001
|
|
NM_001184.4(ATR):c.4035T>A (p.Asp1345Glu)
|
rs983000315
|
0.00001
|
|
NM_001184.4(ATR):c.4061G>C (p.Cys1354Ser)
|
rs1396313983
|
0.00001
|
|
NM_001184.4(ATR):c.4221T>C (p.Tyr1407=)
|
rs777058584
|
0.00001
|
|
NM_001184.4(ATR):c.4260C>T (p.Ala1420=)
|
rs141720641
|
0.00001
|
|
NM_001184.4(ATR):c.4301A>C (p.Glu1434Ala)
|
rs1326317682
|
0.00001
|
|
NM_001184.4(ATR):c.4314A>G (p.Pro1438=)
|
rs55806603
|
0.00001
|
|
NM_001184.4(ATR):c.4356A>G (p.Glu1452=)
|
rs376297401
|
0.00001
|
|
NM_001184.4(ATR):c.4544G>A (p.Ser1515Asn)
|
rs1346761060
|
0.00001
|
|
NM_001184.4(ATR):c.4662A>G (p.Ala1554=)
|
rs758763890
|
0.00001
|
|
NM_001184.4(ATR):c.4746C>T (p.Phe1582=)
|
rs769375698
|
0.00001
|
|
NM_001184.4(ATR):c.4778G>A (p.Arg1593Lys)
|
rs772382675
|
0.00001
|
|
NM_001184.4(ATR):c.4806G>A (p.Glu1602=)
|
rs1559952973
|
0.00001
|
|
NM_001184.4(ATR):c.4860T>A (p.Thr1620=)
|
rs972989914
|
0.00001
|
|
NM_001184.4(ATR):c.4941C>T (p.Arg1647=)
|
rs186824993
|
0.00001
|
|
NM_001184.4(ATR):c.4950A>G (p.Ala1650=)
|
rs149940145
|
0.00001
|
|
NM_001184.4(ATR):c.5133C>T (p.Ser1711=)
|
rs368178207
|
0.00001
|
|
NM_001184.4(ATR):c.5211T>C (p.His1737=)
|
rs370153176
|
0.00001
|
|
NM_001184.4(ATR):c.5292C>T (p.Ser1764=)
|
rs745745176
|
0.00001
|
|
NM_001184.4(ATR):c.5303A>G (p.Asp1768Gly)
|
rs763130593
|
0.00001
|
|
NM_001184.4(ATR):c.5484A>G (p.Ala1828=)
|
rs765260141
|
0.00001
|
|
NM_001184.4(ATR):c.5562G>A (p.Leu1854=)
|
rs2031699549
|
0.00001
|
|
NM_001184.4(ATR):c.5642T>C (p.Leu1881Pro)
|
rs145185913
|
0.00001
|
|
NM_001184.4(ATR):c.5869G>A (p.Val1957Met)
|
rs753319463
|
0.00001
|
|
NM_001184.4(ATR):c.5900G>A (p.Gly1967Asp)
|
rs751198306
|
0.00001
|
|
NM_001184.4(ATR):c.5996A>G (p.His1999Arg)
|
rs764703895
|
0.00001
|
|
NM_001184.4(ATR):c.6089C>T (p.Ala2030Val)
|
rs755650081
|
0.00001
|
|
NM_001184.4(ATR):c.6153C>T (p.Pro2051=)
|
rs572825540
|
0.00001
|
|
NM_001184.4(ATR):c.6183A>G (p.Gln2061=)
|
rs975197304
|
0.00001
|
|
NM_001184.4(ATR):c.6196C>T (p.Arg2066Trp)
|
rs369309229
|
0.00001
|
|
NM_001184.4(ATR):c.624T>A (p.Thr208=)
|
rs866939836
|
0.00001
|
|
NM_001184.4(ATR):c.6259A>G (p.Met2087Val)
|
rs757353909
|
0.00001
|
|
NM_001184.4(ATR):c.6279A>G (p.Leu2093=)
|
rs766366107
|
0.00001
|
|
NM_001184.4(ATR):c.6341A>G (p.Gln2114Arg)
|
rs2071208734
|
0.00001
|
|
NM_001184.4(ATR):c.6433T>C (p.Leu2145=)
|
rs754739284
|
0.00001
|
|
NM_001184.4(ATR):c.647T>C (p.Ile216Thr)
|
rs776894408
|
0.00001
|
|
NM_001184.4(ATR):c.671G>A (p.Arg224Lys)
|
rs771711234
|
0.00001
|
|
NM_001184.4(ATR):c.6775C>G (p.Leu2259Val)
|
rs2071133204
|
0.00001
|
|
NM_001184.4(ATR):c.6786A>G (p.Leu2262=)
|
rs1035476600
|
0.00001
|
|
NM_001184.4(ATR):c.6829C>T (p.His2277Tyr)
|
rs755816195
|
0.00001
|
|
NM_001184.4(ATR):c.6903A>G (p.Glu2301=)
|
rs779369662
|
0.00001
|
|
NM_001184.4(ATR):c.6976T>C (p.Cys2326Arg)
|
rs766127973
|
0.00001
|
|
NM_001184.4(ATR):c.7005T>C (p.Asp2335=)
|
rs773125056
|
0.00001
|
|
NM_001184.4(ATR):c.7077A>G (p.Glu2359=)
|
rs1209398147
|
0.00001
|
|
NM_001184.4(ATR):c.7192+18T>C
|
rs1349447137
|
0.00001
|
|
NM_001184.4(ATR):c.7284C>T (p.Leu2428=)
|
rs752303030
|
0.00001
|
|
NM_001184.4(ATR):c.7297C>T (p.Pro2433Ser)
|
rs1029034437
|
0.00001
|
|
NM_001184.4(ATR):c.7427G>A (p.Arg2476His)
|
rs777776233
|
0.00001
|
|
NM_001184.4(ATR):c.744A>C (p.Ala248=)
|
rs368117837
|
0.00001
|
|
NM_001184.4(ATR):c.7487A>G (p.Asn2496Ser)
|
rs373093280
|
0.00001
|
|
NM_001184.4(ATR):c.7658T>A (p.Val2553Asp)
|
rs1043401586
|
0.00001
|
|
NM_001184.4(ATR):c.7728A>T (p.Pro2576=)
|
rs764165509
|
0.00001
|
|
NM_001184.4(ATR):c.7770C>T (p.Thr2590=)
|
rs1408082351
|
0.00001
|
|
NM_001184.4(ATR):c.7800A>G (p.Gln2600=)
|
rs746266532
|
0.00001
|
|
NM_001184.4(ATR):c.7899A>G (p.Leu2633=)
|
rs147649584
|
0.00001
|
|
NM_001184.4(ATR):c.829T>C (p.Leu277=)
|
rs775530116
|
0.00001
|
|
NM_001184.4(ATR):c.958A>G (p.Met320Val)
|
rs1467405815
|
0.00001
|
|
NM_001267550.2(TTN):c.104347C>T (p.Leu34783Phe)
|
rs539735520
|
0.00001
|
|
NM_001267550.2(TTN):c.11991T>C (p.Ile3997=)
|
rs565546452
|
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.30966C>T (p.Asp10322=)
|
rs587780979
|
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.60621T>C (p.Tyr20207=)
|
rs376959563
|
0.00001
|
|
NM_001267550.2(TTN):c.63981A>G (p.Val21327=)
|
rs397517656
|
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.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.88152G>A (p.Lys29384=)
|
rs1206935877
|
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_001378454.1(ALMS1):c.11668+1G>A
|
rs1181992959
|
0.00001
|
|
NM_001378454.1(ALMS1):c.12425A>G (p.Tyr4142Cys)
|
rs775032572
|
0.00001
|
|
NM_001378609.3(OTOGL):c.6429G>A (p.Glu2143=)
|
rs777315488
|
0.00001
|
|
NM_001384140.1(PCDH15):c.1843C>T (p.Arg615Cys)
|
rs139104747
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.4685G>A (p.Arg1562His)
|
rs1293854417
|
0.00001
|
|
NM_001386140.1(MTTP):c.2674G>A (p.Gly892Arg)
|
rs774949603
|
0.00001
|
|
NM_002485.5(NBN):c.-7C>A
|
rs1210776869
|
0.00001
|
|
NM_002485.5(NBN):c.1009A>G (p.Thr337Ala)
|
rs1554560492
|
0.00001
|
|
NM_002485.5(NBN):c.1010C>T (p.Thr337Ile)
|
rs1335655343
|
0.00001
|
|
NM_002485.5(NBN):c.1023C>G (p.Ser341Arg)
|
rs756023239
|
0.00001
|
|
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter)
|
rs767215758
|
0.00001
|
|
NM_002485.5(NBN):c.1034G>T (p.Gly345Val)
|
rs587780089
|
0.00001
|
|
NM_002485.5(NBN):c.1063A>G (p.Ser355Gly)
|
rs762376159
|
0.00001
|
|
NM_002485.5(NBN):c.1066G>A (p.Ala356Thr)
|
rs777259845
|
0.00001
|
|
NM_002485.5(NBN):c.1076A>G (p.Asn359Ser)
|
rs768886664
|
0.00001
|
|
NM_002485.5(NBN):c.1090G>A (p.Val364Ile)
|
rs765403660
|
0.00001
|
|
NM_002485.5(NBN):c.1091T>C (p.Val364Ala)
|
rs370229163
|
0.00001
|
|
NM_002485.5(NBN):c.112G>C (p.Asp38His)
|
rs876659565
|
0.00001
|
|
NM_002485.5(NBN):c.1147G>A (p.Glu383Lys)
|
rs772909239
|
0.00001
|
|
NM_002485.5(NBN):c.1152C>G (p.Ile384Met)
|
rs551802153
|
0.00001
|
|
NM_002485.5(NBN):c.1163A>G (p.Lys388Arg)
|
rs947104724
|
0.00001
|
|
NM_002485.5(NBN):c.1177T>C (p.Phe393Leu)
|
rs941732827
|
0.00001
|
|
NM_002485.5(NBN):c.1193A>G (p.Gln398Arg)
|
rs746965070
|
0.00001
|
|
NM_002485.5(NBN):c.119C>T (p.Ser40Leu)
|
rs587781530
|
0.00001
|
|
NM_002485.5(NBN):c.11del (p.Leu4fs)
|
rs1064793210
|
0.00001
|
|
NM_002485.5(NBN):c.1238A>G (p.Asn413Ser)
|
rs529340553
|
0.00001
|
|
NM_002485.5(NBN):c.123del (p.Ser42fs)
|
rs587781891
|
0.00001
|
|
NM_002485.5(NBN):c.1247T>C (p.Met416Thr)
|
rs863224713
|
0.00001
|
|
NM_002485.5(NBN):c.1248G>T (p.Met416Ile)
|
rs756572268
|
0.00001
|
|
NM_002485.5(NBN):c.1285T>G (p.Tyr429Asp)
|
rs587782409
|
0.00001
|
|
NM_002485.5(NBN):c.128G>A (p.Arg43Gln)
|
rs759146120
|
0.00001
|
|
NM_002485.5(NBN):c.1315A>G (p.Ile439Val)
|
rs752837508
|
0.00001
|
|
NM_002485.5(NBN):c.1322A>G (p.Lys441Arg)
|
rs1329281031
|
0.00001
|
|
NM_002485.5(NBN):c.1351C>G (p.Gln451Glu)
|
rs1011573169
|
0.00001
|
|
NM_002485.5(NBN):c.1359C>A (p.Asn453Lys)
|
rs1412358437
|
0.00001
|
|
NM_002485.5(NBN):c.1361C>A (p.Ser454Tyr)
|
rs587780774
|
0.00001
|
|
NM_002485.5(NBN):c.1383G>A (p.Pro461=)
|
rs886063169
|
0.00001
|
|
NM_002485.5(NBN):c.1397+3C>G
|
rs876660481
|
0.00001
|
|
NM_002485.5(NBN):c.1404G>T (p.Arg468Ser)
|
rs730881851
|
0.00001
|
|
NM_002485.5(NBN):c.1412A>G (p.Glu471Gly)
|
rs878854505
|
0.00001
|
|
NM_002485.5(NBN):c.1415A>G (p.Asn472Ser)
|
rs750711786
|
0.00001
|
|
NM_002485.5(NBN):c.1465C>G (p.Leu489Val)
|
rs143948240
|
0.00001
|
|
NM_002485.5(NBN):c.1471G>A (p.Glu491Lys)
|
rs776900339
|
0.00001
|
|
NM_002485.5(NBN):c.1480C>A (p.Gln494Lys)
|
rs587781557
|
0.00001
|
|
NM_002485.5(NBN):c.1481A>C (p.Gln494Pro)
|
rs1381248118
|
0.00001
|
|
NM_002485.5(NBN):c.1549A>G (p.Asn517Asp)
|
rs1040315184
|
0.00001
|
|
NM_002485.5(NBN):c.1559A>G (p.Asn520Ser)
|
rs750981708
|
0.00001
|
|
NM_002485.5(NBN):c.1570A>G (p.Thr524Ala)
|
rs1292640945
|
0.00001
|
|
NM_002485.5(NBN):c.1580A>T (p.Asp527Val)
|
rs1554558407
|
0.00001
|
|
NM_002485.5(NBN):c.1618C>T (p.His540Tyr)
|
rs1554558393
|
0.00001
|
|
NM_002485.5(NBN):c.1619A>G (p.His540Arg)
|
rs730881852
|
0.00001
|
|
NM_002485.5(NBN):c.1628A>G (p.Glu543Gly)
|
rs587781624
|
0.00001
|
|
NM_002485.5(NBN):c.1657A>G (p.Met553Val)
|
rs746347634
|
0.00001
|
|
NM_002485.5(NBN):c.1659G>A (p.Met553Ile)
|
rs876659960
|
0.00001
|
|
NM_002485.5(NBN):c.1684G>A (p.Val562Ile)
|
rs754651655
|
0.00001
|
|
NM_002485.5(NBN):c.1703A>G (p.Lys568Arg)
|
rs1488036998
|
0.00001
|
|
NM_002485.5(NBN):c.170T>C (p.Leu57Pro)
|
rs747920256
|
0.00001
|
|
NM_002485.5(NBN):c.171+3A>G
|
rs1487002693
|
0.00001
|
|
NM_002485.5(NBN):c.171+4T>C
|
rs587782290
|
0.00001
|
|
NM_002485.5(NBN):c.1716dup (p.Glu573fs)
|
rs1060503483
|
0.00001
|
|
NM_002485.5(NBN):c.172-3C>T
|
rs587781620
|
0.00001
|
|
NM_002485.5(NBN):c.1735A>G (p.Lys579Glu)
|
rs993110145
|
0.00001
|
|
NM_002485.5(NBN):c.1741C>T (p.Gln581Ter)
|
rs1337679118
|
0.00001
|
|
NM_002485.5(NBN):c.1754A>G (p.Glu585Gly)
|
rs763926389
|
0.00001
|
|
NM_002485.5(NBN):c.175C>T (p.Gln59Ter)
|
rs1554568427
|
0.00001
|
|
NM_002485.5(NBN):c.1763A>G (p.Asn588Ser)
|
rs876658681
|
0.00001
|
|
NM_002485.5(NBN):c.1816G>A (p.Glu606Lys)
|
rs774324419
|
0.00001
|
|
NM_002485.5(NBN):c.1843T>C (p.Ser615Pro)
|
rs746632073
|
0.00001
|
|
NM_002485.5(NBN):c.1845+6T>C
|
rs1033050295
|
0.00001
|
|
NM_002485.5(NBN):c.1848A>G (p.Gln616=)
|
rs587782269
|
0.00001
|
|
NM_002485.5(NBN):c.1856A>C (p.Glu619Ala)
|
rs763546746
|
0.00001
|
|
NM_002485.5(NBN):c.1866G>C (p.Lys622Asn)
|
rs587782221
|
0.00001
|
|
NM_002485.5(NBN):c.1873G>A (p.Glu625Lys)
|
rs369049359
|
0.00001
|
|
NM_002485.5(NBN):c.1877T>G (p.Leu626Arg)
|
rs1237629649
|
0.00001
|
|
NM_002485.5(NBN):c.1888T>C (p.Ser630Pro)
|
rs377132067
|
0.00001
|
|
NM_002485.5(NBN):c.1910T>A (p.Ile637Lys)
|
rs876658613
|
0.00001
|
|
NM_002485.5(NBN):c.1912T>C (p.Ser638Pro)
|
rs199657566
|
0.00001
|
|
NM_002485.5(NBN):c.1915-8C>T
|
rs368132097
|
0.00001
|
|
NM_002485.5(NBN):c.1919A>G (p.Asn640Ser)
|
rs748073091
|
0.00001
|
|
NM_002485.5(NBN):c.1973A>G (p.Glu658Gly)
|
rs587782155
|
0.00001
|
|
NM_002485.5(NBN):c.1989G>A (p.Val663=)
|
rs757753217
|
0.00001
|
|
NM_002485.5(NBN):c.19G>A (p.Ala7Thr)
|
rs587780779
|
0.00001
|
|
NM_002485.5(NBN):c.2012A>G (p.Asn671Ser)
|
rs1563513183
|
0.00001
|
|
NM_002485.5(NBN):c.2038G>A (p.Gly680Ser)
|
rs200564603
|
0.00001
|
|
NM_002485.5(NBN):c.2071-4A>G
|
rs746994234
|
0.00001
|
|
NM_002485.5(NBN):c.2071G>A (p.Val691Ile)
|
rs772059959
|
0.00001
|
|
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter)
|
rs730881857
|
0.00001
|
|
NM_002485.5(NBN):c.2129C>T (p.Ala710Val)
|
rs1060503454
|
0.00001
|
|
NM_002485.5(NBN):c.2132A>T (p.His711Leu)
|
rs1810035825
|
0.00001
|
|
NM_002485.5(NBN):c.2134C>A (p.His712Asn)
|
rs781520763
|
0.00001
|
|
NM_002485.5(NBN):c.2134C>T (p.His712Tyr)
|
rs781520763
|
0.00001
|
|
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)
|
rs730881864
|
0.00001
|
|
NM_002485.5(NBN):c.2149A>T (p.Thr717Ser)
|
rs587780093
|
0.00001
|
|
NM_002485.5(NBN):c.2165G>C (p.Trp722Ser)
|
rs786204181
|
0.00001
|
|
NM_002485.5(NBN):c.2174A>G (p.Gln725Arg)
|
rs878854510
|
0.00001
|
|
NM_002485.5(NBN):c.2176G>A (p.Glu726Lys)
|
rs1421870412
|
0.00001
|
|
NM_002485.5(NBN):c.2184+1G>T
|
rs756363734
|
0.00001
|
|
NM_002485.5(NBN):c.2197C>G (p.His733Asp)
|
rs1311278427
|
0.00001
|
|
NM_002485.5(NBN):c.2201C>T (p.Ala734Val)
|
rs751824753
|
0.00001
|
|
NM_002485.5(NBN):c.265C>T (p.Arg89Ter)
|
rs1057516320
|
0.00001
|
|
NM_002485.5(NBN):c.286G>A (p.Gly96Ser)
|
rs730882133
|
0.00001
|
|
NM_002485.5(NBN):c.296T>A (p.Phe99Tyr)
|
rs1187898389
|
0.00001
|
|
NM_002485.5(NBN):c.320+6A>G
|
rs757321173
|
0.00001
|
|
NM_002485.5(NBN):c.321-17C>G
|
rs763878712
|
0.00001
|
|
NM_002485.5(NBN):c.321-3C>T
|
rs751356470
|
0.00001
|
|
NM_002485.5(NBN):c.323T>C (p.Ile108Thr)
|
rs775217949
|
0.00001
|
|
NM_002485.5(NBN):c.329A>G (p.Tyr110Cys)
|
rs1355269482
|
0.00001
|
|
NM_002485.5(NBN):c.332A>G (p.Glu111Gly)
|
rs876659320
|
0.00001
|
|
NM_002485.5(NBN):c.350C>T (p.Ser117Phe)
|
rs1060503468
|
0.00001
|
|
NM_002485.5(NBN):c.361G>C (p.Asp121His)
|
rs777916019
|
0.00001
|
|
NM_002485.5(NBN):c.37+3A>G
|
rs764356392
|
0.00001
|
|
NM_002485.5(NBN):c.370G>A (p.Gly124Arg)
|
rs1064794806
|
0.00001
|
|
NM_002485.5(NBN):c.38-5C>T
|
rs775244752
|
0.00001
|
|
NM_002485.5(NBN):c.38-7A>G
|
rs863224392
|
0.00001
|
|
NM_002485.5(NBN):c.390A>G (p.Gln130=)
|
rs146150499
|
0.00001
|
|
NM_002485.5(NBN):c.394A>G (p.Ile132Val)
|
rs756946899
|
0.00001
|
|
NM_002485.5(NBN):c.432A>G (p.Thr144=)
|
rs886043003
|
0.00001
|
|
NM_002485.5(NBN):c.468A>C (p.Lys156Asn)
|
rs730881858
|
0.00001
|
|
NM_002485.5(NBN):c.484A>G (p.Ile162Val)
|
rs750594114
|
0.00001
|
|
NM_002485.5(NBN):c.490G>T (p.Ala164Ser)
|
rs786201252
|
0.00001
|
|
NM_002485.5(NBN):c.493C>A (p.Leu165Ile)
|
rs776810966
|
0.00001
|
|
NM_002485.5(NBN):c.514G>A (p.Val172Ile)
|
rs1586101456
|
0.00001
|
|
NM_002485.5(NBN):c.520C>A (p.Pro174Thr)
|
rs587778546
|
0.00001
|
|
NM_002485.5(NBN):c.567G>A (p.Gln189=)
|
rs1203807404
|
0.00001
|
|
NM_002485.5(NBN):c.584+3A>G
|
rs587782407
|
0.00001
|
|
NM_002485.5(NBN):c.584+9T>C
|
rs746913991
|
0.00001
|
|
NM_002485.5(NBN):c.585-5T>C
|
rs1586088968
|
0.00001
|
|
NM_002485.5(NBN):c.596C>G (p.Pro199Arg)
|
rs730881844
|
0.00001
|
|
NM_002485.5(NBN):c.601G>A (p.Asp201Asn)
|
rs757186245
|
0.00001
|
|
NM_002485.5(NBN):c.60del (p.Gly21fs)
|
rs758708229
|
0.00001
|
|
NM_002485.5(NBN):c.620G>T (p.Ser207Ile)
|
rs587780099
|
0.00001
|
|
NM_002485.5(NBN):c.644G>A (p.Arg215Gln)
|
rs61753718
|
0.00001
|
|
NM_002485.5(NBN):c.646C>A (p.Gln216Lys)
|
rs769416
|
0.00001
|
|
NM_002485.5(NBN):c.649G>C (p.Glu217Gln)
|
rs760275251
|
0.00001
|
|
NM_002485.5(NBN):c.64G>A (p.Val22Ile)
|
rs369910645
|
0.00001
|
|
NM_002485.5(NBN):c.656A>G (p.Lys219Arg)
|
rs376951288
|
0.00001
|
|
NM_002485.5(NBN):c.658C>G (p.Gln220Glu)
|
rs876659811
|
0.00001
|
|
NM_002485.5(NBN):c.666C>T (p.Phe222=)
|
rs876661098
|
0.00001
|
|
NM_002485.5(NBN):c.692A>G (p.Asn231Ser)
|
rs1309274168
|
0.00001
|
|
NM_002485.5(NBN):c.703C>T (p.His235Tyr)
|
rs1554564044
|
0.00001
|
|
NM_002485.5(NBN):c.772G>C (p.Glu258Gln)
|
rs922057169
|
0.00001
|
|
NM_002485.5(NBN):c.773A>G (p.Glu258Gly)
|
rs786203380
|
0.00001
|
|
NM_002485.5(NBN):c.783T>G (p.Asn261Lys)
|
rs375336614
|
0.00001
|
|
NM_002485.5(NBN):c.793G>A (p.Ala265Thr)
|
rs876658382
|
0.00001
|
|
NM_002485.5(NBN):c.796C>T (p.Pro266Ser)
|
rs762956906
|
0.00001
|
|
NM_002485.5(NBN):c.798G>A (p.Pro266=)
|
rs368786672
|
0.00001
|
|
NM_002485.5(NBN):c.7A>T (p.Lys3Ter)
|
rs779098734
|
0.00001
|
|
NM_002485.5(NBN):c.800G>A (p.Gly267Glu)
|
rs747837246
|
0.00001
|
|
NM_002485.5(NBN):c.806G>A (p.Cys269Tyr)
|
rs768822147
|
0.00001
|
|
NM_002485.5(NBN):c.815A>G (p.Asp272Gly)
|
rs730881847
|
0.00001
|
|
NM_002485.5(NBN):c.820G>A (p.Gly274Arg)
|
rs540837864
|
0.00001
|
|
NM_002485.5(NBN):c.826A>T (p.Thr276Ser)
|
rs1554563895
|
0.00001
|
|
NM_002485.5(NBN):c.827C>G (p.Thr276Arg)
|
rs864622304
|
0.00001
|
|
NM_002485.5(NBN):c.83G>A (p.Arg28Lys)
|
rs876658581
|
0.00001
|
|
NM_002485.5(NBN):c.842T>G (p.Leu281Ter)
|
rs786205135
|
0.00001
|
|
NM_002485.5(NBN):c.877A>G (p.Ile293Val)
|
rs1283506577
|
0.00001
|
|
NM_002485.5(NBN):c.881T>C (p.Met294Thr)
|
rs779346343
|
0.00001
|
|
NM_002485.5(NBN):c.897G>A (p.Arg299=)
|
rs779798363
|
0.00001
|
|
NM_002485.5(NBN):c.937G>T (p.Ala313Ser)
|
rs876660584
|
0.00001
|
|
NM_002485.5(NBN):c.938C>T (p.Ala313Val)
|
rs730881862
|
0.00001
|
|
NM_002485.5(NBN):c.986C>T (p.Pro329Leu)
|
rs1386471248
|
0.00001
|
|
NM_002485.5(NBN):c.994+5T>C
|
rs778254433
|
0.00001
|
|
NM_004525.3(LRP2):c.11244C>T (p.Asn3748=)
|
rs542010522
|
0.00001
|
|
NM_004525.3(LRP2):c.2599A>G (p.Thr867Ala)
|
rs143822500
|
0.00001
|
|
NM_004525.3(LRP2):c.2636G>C (p.Trp879Ser)
|
rs199581227
|
0.00001
|
|
NM_004525.3(LRP2):c.2885C>T (p.Ser962Leu)
|
rs575919892
|
0.00001
|
|
NM_004525.3(LRP2):c.6545G>A (p.Arg2182His)
|
rs199813044
|
0.00001
|
|
NM_004525.3(LRP2):c.9342C>T (p.Cys3114=)
|
rs199803029
|
0.00001
|
|
NM_004700.4(KCNQ4):c.1202G>A (p.Arg401Gln)
|
rs551509351
|
0.00001
|
|
NM_004700.4(KCNQ4):c.1208C>T (p.Pro403Leu)
|
rs887762794
|
0.00001
|
|
NM_004700.4(KCNQ4):c.1463G>A (p.Arg488His)
|
rs371301199
|
0.00001
|
|
NM_004700.4(KCNQ4):c.1517C>T (p.Ala506Val)
|
rs145732892
|
0.00001
|
|
NM_004700.4(KCNQ4):c.1531G>A (p.Val511Ile)
|
rs778538229
|
0.00001
|
|
NM_004700.4(KCNQ4):c.946-3T>A
|
rs876657840
|
0.00001
|
|
NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser)
|
rs28939710
|
0.00001
|
|
NM_006019.4(TCIRG1):c.1894G>A (p.Val632Ile)
|
rs760670339
|
0.00001
|
|
NM_006432.5(NPC2):c.240C>T (p.Gly80=)
|
rs773836291
|
0.00001
|
|
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter)
|
rs1057517250
|
0.00001
|
|
NM_014363.6(SACS):c.10699G>A (p.Glu3567Lys)
|
rs886050078
|
0.00001
|
|
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter)
|
rs780247476
|
0.00001
|
|
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln)
|
rs281865119
|
0.00001
|
|
NM_014363.6(SACS):c.11707C>T (p.Arg3903Ter)
|
rs774906736
|
0.00001
|
|
NM_014363.6(SACS):c.1189_1190del (p.Ser397fs)
|
rs1057516625
|
0.00001
|
|
NM_014363.6(SACS):c.1201C>T (p.Arg401Ter)
|
rs769212398
|
0.00001
|
|
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter)
|
rs281865120
|
0.00001
|
|
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter)
|
rs762947018
|
0.00001
|
|
NM_014363.6(SACS):c.13269A>T (p.Ser4423=)
|
rs1180908312
|
0.00001
|
|
NM_014363.6(SACS):c.13476G>C (p.Val4492=)
|
rs370362235
|
0.00001
|
|
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu)
|
rs1440541889
|
0.00001
|
|
NM_014363.6(SACS):c.1728C>T (p.Tyr576=)
|
rs750748828
|
0.00001
|
|
NM_014363.6(SACS):c.1846G>C (p.Ala616Pro)
|
rs200437752
|
0.00001
|
|
NM_014363.6(SACS):c.1907G>A (p.Arg636Gln)
|
rs368944813
|
0.00001
|
|
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe)
|
rs139805032
|
0.00001
|
|
NM_014363.6(SACS):c.3417C>T (p.His1139=)
|
rs758862765
|
0.00001
|
|
NM_014363.6(SACS):c.3868G>T (p.Ala1290Ser)
|
rs757939935
|
0.00001
|
|
NM_014363.6(SACS):c.434C>G (p.Ser145Ter)
|
rs994374354
|
0.00001
|
|
NM_014363.6(SACS):c.4612A>G (p.Ile1538Val)
|
rs544249449
|
0.00001
|
|
NM_014363.6(SACS):c.4628A>G (p.Glu1543Gly)
|
rs370324250
|
0.00001
|
|
NM_014363.6(SACS):c.4639A>T (p.Arg1547Trp)
|
rs772907934
|
0.00001
|
|
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn)
|
rs1160357920
|
0.00001
|
|
NM_014363.6(SACS):c.4782C>G (p.Asp1594Glu)
|
rs1330036755
|
0.00001
|
|
NM_014363.6(SACS):c.47G>T (p.Gly16Val)
|
rs886050090
|
0.00001
|
|
NM_014363.6(SACS):c.5143A>T (p.Lys1715Ter)
|
rs755824618
|
0.00001
|
|
NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter)
|
rs761089024
|
0.00001
|
|
NM_014363.6(SACS):c.5732C>T (p.Thr1911Met)
|
rs368494148
|
0.00001
|
|
NM_014363.6(SACS):c.5848G>A (p.Asp1950Asn)
|
rs370902090
|
0.00001
|
|
NM_014363.6(SACS):c.5930A>G (p.Lys1977Arg)
|
rs774492331
|
0.00001
|
|
NM_014363.6(SACS):c.5932G>A (p.Val1978Ile)
|
rs373812430
|
0.00001
|
|
NM_014363.6(SACS):c.60C>T (p.Cys20=)
|
rs932552006
|
0.00001
|
|
NM_014363.6(SACS):c.623G>T (p.Ser208Ile)
|
rs911764681
|
0.00001
|
|
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter)
|
rs145766983
|
0.00001
|
|
NM_014363.6(SACS):c.7282A>G (p.Ile2428Val)
|
rs1007936574
|
0.00001
|
|
NM_014363.6(SACS):c.7742C>T (p.Ala2581Val)
|
rs866333277
|
0.00001
|
|
NM_014363.6(SACS):c.8108G>A (p.Arg2703His)
|
rs750181262
|
0.00001
|
|
NM_014363.6(SACS):c.8133G>A (p.Ser2711=)
|
rs143386746
|
0.00001
|
|
NM_014363.6(SACS):c.814C>T (p.Arg272Cys)
|
rs374128662
|
0.00001
|
|
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile)
|
rs772742353
|
0.00001
|
|
NM_014363.6(SACS):c.861C>T (p.Tyr287=)
|
rs200877272
|
0.00001
|
|
NM_014363.6(SACS):c.8844del (p.Ile2949fs)
|
rs281865117
|
0.00001
|
|
NM_014363.6(SACS):c.8889C>A (p.Phe2963Leu)
|
rs776647599
|
0.00001
|
|
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter)
|
rs886041949
|
0.00001
|
|
NM_014363.6(SACS):c.9661G>A (p.Val3221Met)
|
rs142867964
|
0.00001
|
|
NM_015046.7(SETX):c.1086A>C (p.Glu362Asp)
|
rs768198537
|
0.00001
|
|
NM_015046.7(SETX):c.1204C>T (p.Arg402Cys)
|
rs772044862
|
0.00001
|
|
NM_015046.7(SETX):c.1505G>A (p.Arg502Gln)
|
rs750044197
|
0.00001
|
|
NM_015046.7(SETX):c.1561C>T (p.Leu521=)
|
rs148638979
|
0.00001
|
|
NM_015046.7(SETX):c.1989_1994del (p.Ile664_Glu665del)
|
rs773195802
|
0.00001
|
|
NM_015046.7(SETX):c.2003A>G (p.Asn668Ser)
|
rs780898043
|
0.00001
|
|
NM_015046.7(SETX):c.2125A>G (p.Thr709Ala)
|
rs750530263
|
0.00001
|
|
NM_015046.7(SETX):c.2245G>A (p.Asp749Asn)
|
rs922821119
|
0.00001
|
|
NM_015046.7(SETX):c.2254A>G (p.Thr752Ala)
|
rs745938575
|
0.00001
|
|
NM_015046.7(SETX):c.2788A>G (p.Ser930Gly)
|
rs770694223
|
0.00001
|
|
NM_015046.7(SETX):c.3028C>T (p.Arg1010Cys)
|
rs766799023
|
0.00001
|
|
NM_015046.7(SETX):c.3040A>G (p.Ile1014Val)
|
rs761243379
|
0.00001
|
|
NM_015046.7(SETX):c.3047T>C (p.Ile1016Thr)
|
rs200856903
|
0.00001
|
|
NM_015046.7(SETX):c.3221A>G (p.Glu1074Gly)
|
rs752140967
|
0.00001
|
|
NM_015046.7(SETX):c.3332T>G (p.Leu1111Trp)
|
rs1564541841
|
0.00001
|
|
NM_015046.7(SETX):c.3385G>A (p.Glu1129Lys)
|
rs778505279
|
0.00001
|
|
NM_015046.7(SETX):c.3410G>A (p.Gly1137Asp)
|
rs62576475
|
0.00001
|
|
NM_015046.7(SETX):c.3813A>G (p.Pro1271=)
|
rs759945253
|
0.00001
|
|
NM_015046.7(SETX):c.382C>T (p.Arg128Cys)
|
rs552476047
|
0.00001
|
|
NM_015046.7(SETX):c.4045C>G (p.Gln1349Glu)
|
rs146407699
|
0.00001
|
|
NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter)
|
rs121434376
|
0.00001
|
|
NM_015046.7(SETX):c.4114G>C (p.Asp1372His)
|
rs1564539457
|
0.00001
|
|
NM_015046.7(SETX):c.4297A>G (p.Thr1433Ala)
|
rs1038733632
|
0.00001
|
|
NM_015046.7(SETX):c.4563A>G (p.Glu1521=)
|
rs374149839
|
0.00001
|
|
NM_015046.7(SETX):c.4707T>C (p.Ser1569=)
|
rs769964668
|
0.00001
|
|
NM_015046.7(SETX):c.5203G>A (p.Val1735Ile)
|
rs752646721
|
0.00001
|
|
NM_015046.7(SETX):c.5279C>T (p.Ala1760Val)
|
rs758411198
|
0.00001
|
|
NM_015046.7(SETX):c.5501A>G (p.His1834Arg)
|
rs770822383
|
0.00001
|
|
NM_015046.7(SETX):c.5503G>A (p.Glu1835Lys)
|
rs143133190
|
0.00001
|
|
NM_015046.7(SETX):c.571G>A (p.Glu191Lys)
|
rs929798338
|
0.00001
|
|
NM_015046.7(SETX):c.5834C>T (p.Ala1945Val)
|
rs1009296937
|
0.00001
|
|
NM_015046.7(SETX):c.5839G>A (p.Ala1947Thr)
|
rs141440621
|
0.00001
|
|
NM_015046.7(SETX):c.5901A>G (p.Thr1967=)
|
rs780717865
|
0.00001
|
|
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe)
|
rs121434380
|
0.00001
|
|
NM_015046.7(SETX):c.5936G>A (p.Arg1979His)
|
rs761031238
|
0.00001
|
|
NM_015046.7(SETX):c.5950-14G>A
|
rs375632375
|
0.00001
|
|
NM_015046.7(SETX):c.6172A>C (p.Lys2058Gln)
|
rs747309962
|
0.00001
|
|
NM_015046.7(SETX):c.6193G>C (p.Val2065Leu)
|
rs755531730
|
0.00001
|
|
NM_015046.7(SETX):c.6248G>T (p.Arg2083Ile)
|
rs751252138
|
0.00001
|
|
NM_015046.7(SETX):c.6351C>T (p.Ser2117=)
|
rs200269892
|
0.00001
|
|
NM_015046.7(SETX):c.6897dup (p.Phe2300fs)
|
rs1331217337
|
0.00001
|
|
NM_015046.7(SETX):c.7103C>G (p.Pro2368Arg)
|
rs1420833435
|
0.00001
|
|
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln)
|
rs145397619
|
0.00001
|
|
NM_015046.7(SETX):c.71A>G (p.Asn24Ser)
|
rs981346599
|
0.00001
|
|
NM_015046.7(SETX):c.7417C>G (p.Leu2473Val)
|
rs760196991
|
0.00001
|
|
NM_015046.7(SETX):c.7473C>T (p.Pro2491=)
|
rs1173009713
|
0.00001
|
|
NM_015046.7(SETX):c.7590T>A (p.Pro2530=)
|
rs1374204163
|
0.00001
|
|
NM_015046.7(SETX):c.866C>T (p.Ala289Val)
|
rs1237541645
|
0.00001
|
|
NM_015046.7(SETX):c.994C>T (p.Arg332Trp)
|
rs29001665
|
0.00001
|
|
NM_015046.7(SETX):c.998A>G (p.Asn333Ser)
|
rs538829833
|
0.00001
|
|
NM_015046.7(SETX):c.99C>T (p.Ala33=)
|
rs762914576
|
0.00001
|
|
NM_015602.4(TOR1AIP1):c.274T>A (p.Ser92Thr)
|
rs775375281
|
0.00001
|
|
NM_015602.4(TOR1AIP1):c.371C>T (p.Thr124Met)
|
rs377375784
|
0.00001
|
|
NM_015602.4(TOR1AIP1):c.404C>T (p.Ser135Leu)
|
rs760733600
|
0.00001
|
|
NM_015602.4(TOR1AIP1):c.443G>C (p.Arg148Thr)
|
rs1376862055
|
0.00001
|
|
NM_015602.4(TOR1AIP1):c.455G>A (p.Arg152Gln)
|
rs773422033
|
0.00001
|
|
NM_015602.4(TOR1AIP1):c.457G>A (p.Asp153Asn)
|
rs1647780800
|
0.00001
|
|
NM_015602.4(TOR1AIP1):c.543A>G (p.Gln181=)
|
rs150530440
|
0.00001
|
|
NM_015602.4(TOR1AIP1):c.555G>A (p.Val185=)
|
rs769367527
|
0.00001
|
|
NM_015602.4(TOR1AIP1):c.755C>T (p.Ser252Leu)
|
rs1198939008
|
0.00001
|
|
NM_015602.4(TOR1AIP1):c.907A>G (p.Asn303Asp)
|
rs770895707
|
0.00001
|
|
NM_017739.4(POMGNT1):c.1721C>T (p.Thr574Ile)
|
rs556069604
|
0.00001
|
|
NM_017739.4(POMGNT1):c.793C>T (p.Arg265Cys)
|
rs774752168
|
0.00001
|
|
NM_017739.4(POMGNT1):c.799C>T (p.Arg267Cys)
|
rs148131756
|
0.00001
|
|
NM_017739.4(POMGNT1):c.902A>G (p.Asn301Ser)
|
rs754653320
|
0.00001
|
|
NM_017777.4(MKS1):c.1465C>T (p.Arg489Cys)
|
rs1003579700
|
0.00001
|
|
NM_017777.4(MKS1):c.728C>T (p.Thr243Met)
|
rs749668169
|
0.00001
|
|
NM_018136.5(ASPM):c.10055_10056insGG (p.Ile3352fs)
|
rs754767041
|
0.00001
|
|
NM_018136.5(ASPM):c.10060C>T (p.Arg3354Ter)
|
rs748529285
|
0.00001
|
|
NM_018136.5(ASPM):c.10061G>A (p.Arg3354Gln)
|
rs537930821
|
0.00001
|
|
NM_018136.5(ASPM):c.1697C>T (p.Ser566Leu)
|
rs555866170
|
0.00001
|
|
NM_018136.5(ASPM):c.1742T>C (p.Met581Thr)
|
rs757587073
|
0.00001
|
|
NM_018136.5(ASPM):c.1789C>T (p.Arg597Ter)
|
rs759485449
|
0.00001
|
|
NM_018136.5(ASPM):c.1802G>T (p.Arg601Ile)
|
rs766146033
|
0.00001
|
|
NM_018136.5(ASPM):c.193C>A (p.Leu65Met)
|
rs780727023
|
0.00001
|
|
NM_018136.5(ASPM):c.2062A>C (p.Asn688His)
|
rs775158833
|
0.00001
|
|
NM_018136.5(ASPM):c.2312G>A (p.Arg771His)
|
rs375059809
|
0.00001
|
|
NM_018136.5(ASPM):c.2488-1G>C
|
rs1321892596
|
0.00001
|
|
NM_018136.5(ASPM):c.2759A>G (p.Lys920Arg)
|
rs372956877
|
0.00001
|
|
NM_018136.5(ASPM):c.2792G>A (p.Arg931Gln)
|
rs764854489
|
0.00001
|
|
NM_018136.5(ASPM):c.2863C>T (p.Gln955Ter)
|
rs774338373
|
0.00001
|
|
NM_018136.5(ASPM):c.3244A>G (p.Thr1082Ala)
|
rs149330414
|
0.00001
|
|
NM_018136.5(ASPM):c.3683G>A (p.Gly1228Asp)
|
rs867611929
|
0.00001
|
|
NM_018136.5(ASPM):c.3796G>T (p.Glu1266Ter)
|
rs199422161
|
0.00001
|
|
NM_018136.5(ASPM):c.396C>G (p.His132Gln)
|
rs761152464
|
0.00001
|
|
NM_018136.5(ASPM):c.4360A>G (p.Arg1454Gly)
|
rs769921325
|
0.00001
|
|
NM_018136.5(ASPM):c.4445G>A (p.Arg1482Gln)
|
rs587783243
|
0.00001
|
|
NM_018136.5(ASPM):c.4474G>C (p.Val1492Leu)
|
rs587783244
|
0.00001
|
|
NM_018136.5(ASPM):c.4520A>G (p.Tyr1507Cys)
|
rs751358312
|
0.00001
|
|
NM_018136.5(ASPM):c.4612C>T (p.Arg1538Ter)
|
rs751326753
|
0.00001
|
|
NM_018136.5(ASPM):c.4834A>T (p.Ile1612Phe)
|
rs1464543547
|
0.00001
|
|
NM_018136.5(ASPM):c.5572T>A (p.Tyr1858Asn)
|
rs1338772800
|
0.00001
|
|
NM_018136.5(ASPM):c.5587A>G (p.Thr1863Ala)
|
rs769813952
|
0.00001
|
|
NM_018136.5(ASPM):c.6172A>G (p.Lys2058Glu)
|
rs774901339
|
0.00001
|
|
NM_018136.5(ASPM):c.6232C>T (p.Arg2078Ter)
|
rs199422168
|
0.00001
|
|
NM_018136.5(ASPM):c.6381T>A (p.Phe2127Leu)
|
rs937207468
|
0.00001
|
|
NM_018136.5(ASPM):c.6960A>G (p.Ser2320=)
|
rs587783260
|
0.00001
|
|
NM_018136.5(ASPM):c.7324C>T (p.Arg2442Ter)
|
rs769364943
|
0.00001
|
|
NM_018136.5(ASPM):c.7544G>A (p.Arg2515Gln)
|
rs751584273
|
0.00001
|
|
NM_018136.5(ASPM):c.8206T>G (p.Leu2736Val)
|
rs140656421
|
0.00001
|
|
NM_018136.5(ASPM):c.8371G>A (p.Gly2791Ser)
|
rs966129910
|
0.00001
|
|
NM_018136.5(ASPM):c.8711_8712del (p.Gln2904fs)
|
rs587783283
|
0.00001
|
|
NM_018136.5(ASPM):c.8804G>A (p.Ser2935Asn)
|
rs886045762
|
0.00001
|
|
NM_018136.5(ASPM):c.8836T>C (p.Tyr2946His)
|
rs776868381
|
0.00001
|
|
NM_018136.5(ASPM):c.898C>G (p.Pro300Ala)
|
rs200453432
|
0.00001
|
|
NM_018136.5(ASPM):c.9101G>A (p.Cys3034Tyr)
|
rs79899243
|
0.00001
|
|
NM_018136.5(ASPM):c.9454C>T (p.Arg3152Ter)
|
rs587783292
|
0.00001
|
|
NM_018136.5(ASPM):c.9659G>A (p.Trp3220Ter)
|
rs77424753
|
0.00001
|
|
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter)
|
rs199422194
|
0.00001
|
|
NM_018136.5(ASPM):c.9730C>T (p.Arg3244Ter)
|
rs199422195
|
0.00001
|
|
NM_018136.5(ASPM):c.9923G>A (p.Arg3308His)
|
rs201362977
|
0.00001
|
|
NM_022124.6(CDH23):c.1666G>A (p.Asp556Asn)
|
rs374014052
|
0.00001
|
|
NM_022124.6(CDH23):c.2782C>T (p.Arg928Cys)
|
rs775017408
|
0.00001
|
|
NM_022124.6(CDH23):c.2833G>A (p.Gly945Ser)
|
rs760043975
|
0.00001
|
|
NM_022124.6(CDH23):c.4286C>G (p.Pro1429Arg)
|
rs747673739
|
0.00001
|
|
NM_022124.6(CDH23):c.5030G>A (p.Gly1677Asp)
|
rs1465588529
|
0.00001
|
|
NM_022124.6(CDH23):c.9538G>T (p.Val3180Phe)
|
rs557490269
|
0.00001
|
|
NM_024301.5(FKRP):c.119G>A (p.Arg40His)
|
rs2054891509
|
0.00001
|
|
NM_024301.5(FKRP):c.854A>C (p.Glu285Ala)
|
rs963039919
|
0.00001
|
|
NM_024301.5(FKRP):c.9C>T (p.Leu3=)
|
rs756295058
|
0.00001
|
|
NM_024685.4(BBS10):c.955G>C (p.Val319Leu)
|
rs769233464
|
0.00001
|
|
NM_025114.4(CEP290):c.2423A>G (p.Tyr808Cys)
|
rs773007151
|
0.00001
|
|
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys)
|
rs768864296
|
0.00001
|
|
NM_025114.4(CEP290):c.4150C>T (p.Arg1384Cys)
|
rs794727563
|
0.00001
|
|
NM_025114.4(CEP290):c.6193A>G (p.Asn2065Asp)
|
rs886043119
|
0.00001
|
|
NM_033056.4(PCDH15):c.5655C>T (p.His1885=)
|
rs758953502
|
0.00001
|
|
NM_138694.4(PKHD1):c.12163G>A (p.Gly4055Arg)
|
rs778545068
|
0.00001
|
|
NM_138694.4(PKHD1):c.5520C>T (p.Cys1840=)
|
rs535128714
|
0.00001
|
|
NM_138694.4(PKHD1):c.7940C>T (p.Pro2647Leu)
|
rs1448998543
|
0.00001
|
|
NM_138694.4(PKHD1):c.8382C>G (p.Asp2794Glu)
|
rs746096431
|
0.00001
|
|
NM_138694.4(PKHD1):c.8848G>A (p.Val2950Ile)
|
rs768138709
|
0.00001
|
|
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter)
|
rs398124503
|
0.00001
|
|
NM_153700.2(STRC):c.4425G>C (p.Trp1475Cys)
|
rs727503443
|
0.00001
|
|
NM_153700.2(STRC):c.4837G>T (p.Glu1613Ter)
|
rs769443188
|
0.00001
|
|
NM_153717.3(EVC):c.1683C>T (p.Val561=)
|
rs913909906
|
0.00001
|
|
NM_194292.3(SASS6):c.86G>A (p.Ser29Asn)
|
rs150589706
|
0.00001
|
|
NM_206933.4(USH2A):c.10058C>T (p.Pro3353Leu)
|
rs755020832
|
0.00001
|
|
NM_206933.4(USH2A):c.10064C>T (p.Pro3355Leu)
|
rs1253788950
|
0.00001
|
|
NM_206933.4(USH2A):c.10182+5T>C
|
rs1049628868
|
0.00001
|
|
NM_206933.4(USH2A):c.10311G>A (p.Lys3437=)
|
rs777618025
|
0.00001
|
|
NM_206933.4(USH2A):c.10373C>T (p.Thr3458Met)
|
rs149485593
|
0.00001
|
|
NM_206933.4(USH2A):c.10423A>G (p.Arg3475Gly)
|
rs141098637
|
0.00001
|
|
NM_206933.4(USH2A):c.1047T>C (p.Asp349=)
|
rs775053681
|
0.00001
|
|
NM_206933.4(USH2A):c.10524C>A (p.Thr3508=)
|
rs397517967
|
0.00001
|
|
NM_206933.4(USH2A):c.10559A>G (p.Asn3520Ser)
|
rs777043718
|
0.00001
|
|
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile)
|
rs780308389
|
0.00001
|
|
NM_206933.4(USH2A):c.10586-2A>G
|
rs370327669
|
0.00001
|
|
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)
|
rs202175091
|
0.00001
|
|
NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr)
|
rs111033265
|
0.00001
|
|
NM_206933.4(USH2A):c.10834G>A (p.Val3612Ile)
|
rs763125604
|
0.00001
|
|
NM_206933.4(USH2A):c.10933G>A (p.Val3645Ile)
|
rs397517970
|
0.00001
|
|
NM_206933.4(USH2A):c.11089A>G (p.Thr3697Ala)
|
rs765454203
|
0.00001
|
|
NM_206933.4(USH2A):c.11105G>A (p.Trp3702Ter)
|
rs1057519193
|
0.00001
|
|
NM_206933.4(USH2A):c.11206G>A (p.Asp3736Asn)
|
rs1373104511
|
0.00001
|
|
NM_206933.4(USH2A):c.11263G>C (p.Gly3755Arg)
|
rs397517971
|
0.00001
|
|
NM_206933.4(USH2A):c.11299A>T (p.Thr3767Ser)
|
rs1289393326
|
0.00001
|
|
NM_206933.4(USH2A):c.11350A>C (p.Ile3784Leu)
|
rs1660884865
|
0.00001
|
|
NM_206933.4(USH2A):c.11473del (p.His3825fs)
|
rs774677256
|
0.00001
|
|
NM_206933.4(USH2A):c.11740G>A (p.Val3914Ile)
|
rs1401744202
|
0.00001
|
|
NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter)
|
rs1358947010
|
0.00001
|
|
NM_206933.4(USH2A):c.11831C>A (p.Ala3944Asp)
|
rs1431048303
|
0.00001
|
|
NM_206933.4(USH2A):c.11887G>A (p.Ala3963Thr)
|
rs541566194
|
0.00001
|
|
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter)
|
rs397517976
|
0.00001
|
|
NM_206933.4(USH2A):c.11956A>G (p.Thr3986Ala)
|
rs727505322
|
0.00001
|
|
NM_206933.4(USH2A):c.12067-2A>G
|
rs397517978
|
0.00001
|
|
NM_206933.4(USH2A):c.12092A>G (p.Tyr4031Cys)
|
rs772969352
|
0.00001
|
|
NM_206933.4(USH2A):c.12151G>T (p.Glu4051Ter)
|
rs1262416703
|
0.00001
|
|
NM_206933.4(USH2A):c.12152_12153insTT (p.Glu4051fs)
|
rs1064793289
|
0.00001
|
|
NM_206933.4(USH2A):c.12316G>A (p.Gly4106Arg)
|
rs1174206381
|
0.00001
|
|
NM_206933.4(USH2A):c.12359G>A (p.Arg4120His)
|
rs188008529
|
0.00001
|
|
NM_206933.4(USH2A):c.12362G>A (p.Arg4121His)
|
rs397517980
|
0.00001
|
|
NM_206933.4(USH2A):c.12415G>C (p.Gly4139Arg)
|
rs138866017
|
0.00001
|
|
NM_206933.4(USH2A):c.12455A>G (p.Glu4152Gly)
|
rs768614804
|
0.00001
|
|
NM_206933.4(USH2A):c.12458C>T (p.Ala4153Val)
|
rs779875423
|
0.00001
|
|
NM_206933.4(USH2A):c.12559C>T (p.Arg4187Cys)
|
rs760177550
|
0.00001
|
|
NM_206933.4(USH2A):c.12581G>A (p.Cys4194Tyr)
|
rs955434291
|
0.00001
|
|
NM_206933.4(USH2A):c.12696A>G (p.Pro4232=)
|
rs113805451
|
0.00001
|
|
NM_206933.4(USH2A):c.12739G>A (p.Gly4247Arg)
|
rs397517982
|
0.00001
|
|
NM_206933.4(USH2A):c.12962A>G (p.Glu4321Gly)
|
rs936692193
|
0.00001
|
|
NM_206933.4(USH2A):c.12967C>T (p.Leu4323Phe)
|
rs750512832
|
0.00001
|
|
NM_206933.4(USH2A):c.12987T>C (p.Tyr4329=)
|
rs1203365063
|
0.00001
|
|
NM_206933.4(USH2A):c.12997C>G (p.Leu4333Val)
|
rs770620234
|
0.00001
|
|
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs)
|
rs768161313
|
0.00001
|
|
NM_206933.4(USH2A):c.13113A>G (p.Gln4371=)
|
rs773670510
|
0.00001
|
|
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter)
|
rs111033385
|
0.00001
|
|
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)
|
rs753330544
|
0.00001
|
|
NM_206933.4(USH2A):c.13386C>T (p.Ile4462=)
|
rs187707339
|
0.00001
|
|
NM_206933.4(USH2A):c.13422C>G (p.Ile4474Met)
|
rs1453273341
|
0.00001
|
|
NM_206933.4(USH2A):c.13441A>G (p.Arg4481Gly)
|
rs878853406
|
0.00001
|
|
NM_206933.4(USH2A):c.13664C>T (p.Pro4555Leu)
|
rs772415448
|
0.00001
|
|
NM_206933.4(USH2A):c.13684A>G (p.Ile4562Val)
|
rs1427845684
|
0.00001
|
|
NM_206933.4(USH2A):c.13704C>T (p.Phe4568=)
|
rs397517986
|
0.00001
|
|
NM_206933.4(USH2A):c.13778C>T (p.Ser4593Leu)
|
rs1202573136
|
0.00001
|
|
NM_206933.4(USH2A):c.13802C>T (p.Pro4601Leu)
|
rs1176215017
|
0.00001
|
|
NM_206933.4(USH2A):c.13811+1G>A
|
rs1177257719
|
0.00001
|
|
NM_206933.4(USH2A):c.14017T>C (p.Tyr4673His)
|
rs1040917329
|
0.00001
|
|
NM_206933.4(USH2A):c.14134-3169A>G
|
rs998302546
|
0.00001
|
|
NM_206933.4(USH2A):c.14153C>A (p.Ala4718Glu)
|
rs201631375
|
0.00001
|
|
NM_206933.4(USH2A):c.14194C>T (p.Pro4732Ser)
|
rs55838724
|
0.00001
|
|
NM_206933.4(USH2A):c.14328T>G (p.His4776Gln)
|
rs1220949681
|
0.00001
|
|
NM_206933.4(USH2A):c.14405C>T (p.Ser4802Phe)
|
rs775307880
|
0.00001
|
|
NM_206933.4(USH2A):c.14542C>T (p.Arg4848Trp)
|
rs757728612
|
0.00001
|
|
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter)
|
rs146733615
|
0.00001
|
|
NM_206933.4(USH2A):c.14817G>A (p.Ser4939=)
|
rs397517992
|
0.00001
|
|
NM_206933.4(USH2A):c.1481A>G (p.Tyr494Cys)
|
rs898430789
|
0.00001
|
|
NM_206933.4(USH2A):c.1482T>C (p.Tyr494=)
|
rs1015357632
|
0.00001
|
|
NM_206933.4(USH2A):c.14832G>T (p.Leu4944Phe)
|
rs556415914
|
0.00001
|
|
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)
|
rs397517994
|
0.00001
|
|
NM_206933.4(USH2A):c.14914C>T (p.Arg4972Cys)
|
rs766759858
|
0.00001
|
|
NM_206933.4(USH2A):c.14928C>G (p.Gly4976=)
|
rs397517995
|
0.00001
|
|
NM_206933.4(USH2A):c.14986A>T (p.Ile4996Phe)
|
rs41308423
|
0.00001
|
|
NM_206933.4(USH2A):c.15038C>T (p.Thr5013Ile)
|
rs397517996
|
0.00001
|
|
NM_206933.4(USH2A):c.15095G>A (p.Ser5032Asn)
|
rs374144657
|
0.00001
|
|
NM_206933.4(USH2A):c.15102C>T (p.Ser5034=)
|
rs147916810
|
0.00001
|
|
NM_206933.4(USH2A):c.15105A>C (p.Thr5035=)
|
rs762610249
|
0.00001
|
|
NM_206933.4(USH2A):c.15169A>T (p.Ile5057Phe)
|
rs542341955
|
0.00001
|
|
NM_206933.4(USH2A):c.15188T>C (p.Leu5063Pro)
|
rs376816523
|
0.00001
|
|
NM_206933.4(USH2A):c.15200del (p.Ile5067fs)
|
rs1295968274
|
0.00001
|
|
NM_206933.4(USH2A):c.15346C>T (p.Arg5116Cys)
|
rs759899869
|
0.00001
|
|
NM_206933.4(USH2A):c.1547G>T (p.Gly516Val)
|
rs1415484067
|
0.00001
|
|
NM_206933.4(USH2A):c.15546C>T (p.Asn5182=)
|
rs546494522
|
0.00001
|
|
NM_206933.4(USH2A):c.15580C>T (p.Arg5194Cys)
|
rs751811618
|
0.00001
|
|
NM_206933.4(USH2A):c.1678C>G (p.Pro560Ala)
|
rs147509797
|
0.00001
|
|
NM_206933.4(USH2A):c.1840+4A>G
|
rs749288291
|
0.00001
|
|
NM_206933.4(USH2A):c.1841-2A>G
|
rs397518003
|
0.00001
|
|
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter)
|
rs534534437
|
0.00001
|
|
NM_206933.4(USH2A):c.187C>T (p.Arg63Ter)
|
rs781223647
|
0.00001
|
|
NM_206933.4(USH2A):c.1900G>T (p.Ala634Ser)
|
rs759589036
|
0.00001
|
|
NM_206933.4(USH2A):c.1954A>G (p.Ser652Gly)
|
rs397518005
|
0.00001
|
|
NM_206933.4(USH2A):c.2031G>T (p.Gln677His)
|
rs753305011
|
0.00001
|
|
NM_206933.4(USH2A):c.206G>T (p.Ser69Ile)
|
rs377254440
|
0.00001
|
|
NM_206933.4(USH2A):c.2167+4C>T
|
rs200638562
|
0.00001
|
|
NM_206933.4(USH2A):c.2168-1G>C
|
rs748961218
|
0.00001
|
|
NM_206933.4(USH2A):c.2169G>A (p.Gly723=)
|
rs751156464
|
0.00001
|
|
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter)
|
rs111033334
|
0.00001
|
|
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg)
|
rs368687374
|
0.00001
|
|
NM_206933.4(USH2A):c.2479A>C (p.Asn827His)
|
rs876658114
|
0.00001
|
|
NM_206933.4(USH2A):c.2541C>A (p.Cys847Ter)
|
rs727503736
|
0.00001
|
|
NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter)
|
rs767078782
|
0.00001
|
|
NM_206933.4(USH2A):c.2617G>A (p.Gly873Arg)
|
rs1037325220
|
0.00001
|
|
NM_206933.4(USH2A):c.2642A>C (p.Gln881Pro)
|
rs769767476
|
0.00001
|
|
NM_206933.4(USH2A):c.2643G>A (p.Gln881=)
|
rs1286317611
|
0.00001
|
|
NM_206933.4(USH2A):c.2761C>A (p.Leu921Met)
|
rs772211390
|
0.00001
|
|
NM_206933.4(USH2A):c.2776C>T (p.Arg926Cys)
|
rs749621457
|
0.00001
|
|
NM_206933.4(USH2A):c.2797C>T (p.Gln933Ter)
|
rs1394737087
|
0.00001
|
|
NM_206933.4(USH2A):c.2972G>A (p.Gly991Glu)
|
rs779811357
|
0.00001
|
|
NM_206933.4(USH2A):c.3068G>A (p.Cys1023Tyr)
|
rs1391032458
|
0.00001
|
|
NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu)
|
rs547581739
|
0.00001
|
|
NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter)
|
rs397518011
|
0.00001
|
|
NM_206933.4(USH2A):c.3310C>A (p.Pro1104Thr)
|
rs751890894
|
0.00001
|
|
NM_206933.4(USH2A):c.3317-2A>G
|
rs2034951427
|
0.00001
|
|
NM_206933.4(USH2A):c.3351A>G (p.Pro1117=)
|
rs946318077
|
0.00001
|
|
NM_206933.4(USH2A):c.3368A>G (p.Tyr1123Cys)
|
rs775177930
|
0.00001
|
|
NM_206933.4(USH2A):c.3405G>C (p.Arg1135Ser)
|
rs372843685
|
0.00001
|
|
NM_206933.4(USH2A):c.3493G>C (p.Val1165Leu)
|
rs727503734
|
0.00001
|
|
NM_206933.4(USH2A):c.3649G>A (p.Asp1217Asn)
|
rs202247801
|
0.00001
|
|
NM_206933.4(USH2A):c.3664G>A (p.Ala1222Thr)
|
rs761752531
|
0.00001
|
|
NM_206933.4(USH2A):c.3713C>T (p.Thr1238Ile)
|
rs768461447
|
0.00001
|
|
NM_206933.4(USH2A):c.3883C>T (p.Arg1295Ter)
|
rs764797292
|
0.00001
|
|
NM_206933.4(USH2A):c.3899G>A (p.Ser1300Asn)
|
rs772408328
|
0.00001
|
|
NM_206933.4(USH2A):c.3914C>T (p.Pro1305Leu)
|
rs780574336
|
0.00001
|
|
NM_206933.4(USH2A):c.3938A>G (p.Asn1313Ser)
|
rs145459379
|
0.00001
|
|
NM_206933.4(USH2A):c.4070C>T (p.Thr1357Met)
|
rs201190539
|
0.00001
|
|
NM_206933.4(USH2A):c.4280T>C (p.Leu1427Pro)
|
rs373130157
|
0.00001
|
|
NM_206933.4(USH2A):c.4314G>T (p.Arg1438Ser)
|
rs776039417
|
0.00001
|
|
NM_206933.4(USH2A):c.4370C>T (p.Ser1457Leu)
|
rs2034688425
|
0.00001
|
|
NM_206933.4(USH2A):c.4384A>C (p.Thr1462Pro)
|
rs757315203
|
0.00001
|
|
NM_206933.4(USH2A):c.441A>G (p.Ser147=)
|
rs773525654
|
0.00001
|
|
NM_206933.4(USH2A):c.4436A>T (p.Asn1479Ile)
|
rs961580455
|
0.00001
|
|
NM_206933.4(USH2A):c.4490C>T (p.Ser1497Phe)
|
rs755482100
|
0.00001
|
|
NM_206933.4(USH2A):c.4544C>T (p.Thr1515Met)
|
rs373599651
|
0.00001
|
|
NM_206933.4(USH2A):c.4576G>A (p.Gly1526Arg)
|
rs769198746
|
0.00001
|
|
NM_206933.4(USH2A):c.4733G>A (p.Arg1578His)
|
rs552928943
|
0.00001
|
|
NM_206933.4(USH2A):c.4810G>A (p.Asp1604Asn)
|
rs775241651
|
0.00001
|
|
NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter)
|
rs745350407
|
0.00001
|
|
NM_206933.4(USH2A):c.5003G>T (p.Gly1668Val)
|
rs1265349835
|
0.00001
|
|
NM_206933.4(USH2A):c.5018T>C (p.Leu1673Pro)
|
rs1162305984
|
0.00001
|
|
NM_206933.4(USH2A):c.5041A>G (p.Asn1681Asp)
|
rs746010533
|
0.00001
|
|
NM_206933.4(USH2A):c.5059A>C (p.Ile1687Leu)
|
rs144213699
|
0.00001
|
|
NM_206933.4(USH2A):c.5111A>T (p.Asn1704Ile)
|
rs764080143
|
0.00001
|
|
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)
|
rs1461319754
|
0.00001
|
|
NM_206933.4(USH2A):c.5189A>G (p.Tyr1730Cys)
|
rs375519871
|
0.00001
|
|
NM_206933.4(USH2A):c.5278del (p.Asp1760fs)
|
rs754374132
|
0.00001
|
|
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp)
|
rs770329105
|
0.00001
|
|
NM_206933.4(USH2A):c.5375G>A (p.Gly1792Glu)
|
rs527598451
|
0.00001
|
|
NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter)
|
rs1553299079
|
0.00001
|
|
NM_206933.4(USH2A):c.5443A>G (p.Ser1815Gly)
|
rs940913250
|
0.00001
|
|
NM_206933.4(USH2A):c.5572+1G>A
|
rs775293551
|
0.00001
|
|
NM_206933.4(USH2A):c.5752G>A (p.Glu1918Lys)
|
rs529355834
|
0.00001
|
|
NM_206933.4(USH2A):c.5776+1G>A
|
rs876657731
|
0.00001
|
|
NM_206933.4(USH2A):c.5776+7T>G
|
rs397518020
|
0.00001
|
|
NM_206933.4(USH2A):c.5836C>T (p.Arg1946Ter)
|
rs751130485
|
0.00001
|
|
NM_206933.4(USH2A):c.5953G>A (p.Glu1985Lys)
|
rs150143291
|
0.00001
|
|
NM_206933.4(USH2A):c.5992C>T (p.Arg1998Cys)
|
rs777886737
|
0.00001
|
|
NM_206933.4(USH2A):c.6050-1G>A
|
rs1035024403
|
0.00001
|
|
NM_206933.4(USH2A):c.6050G>A (p.Gly2017Asp)
|
rs397518024
|
0.00001
|
|
NM_206933.4(USH2A):c.6224G>A (p.Trp2075Ter)
|
rs111033386
|
0.00001
|
|
NM_206933.4(USH2A):c.6325G>A (p.Asp2109Asn)
|
rs759545289
|
0.00001
|
|
NM_206933.4(USH2A):c.6431A>C (p.Glu2144Ala)
|
rs754703964
|
0.00001
|
|
NM_206933.4(USH2A):c.6492A>C (p.Lys2164Asn)
|
rs727503724
|
0.00001
|
|
NM_206933.4(USH2A):c.651G>T (p.Gln217His)
|
rs758696021
|
0.00001
|
|
NM_206933.4(USH2A):c.6589A>G (p.Thr2197Ala)
|
rs887441664
|
0.00001
|
|
NM_206933.4(USH2A):c.6667G>A (p.Gly2223Ser)
|
rs1047559421
|
0.00001
|
|
NM_206933.4(USH2A):c.6668G>A (p.Gly2223Asp)
|
rs755612537
|
0.00001
|
|
NM_206933.4(USH2A):c.6712G>A (p.Glu2238Lys)
|
rs774634733
|
0.00001
|
|
NM_206933.4(USH2A):c.6751T>A (p.Ser2251Thr)
|
rs750302027
|
0.00001
|
|
NM_206933.4(USH2A):c.6806-3C>T
|
rs775703386
|
0.00001
|
|
NM_206933.4(USH2A):c.6854A>G (p.Asn2285Ser)
|
rs528089082
|
0.00001
|
|
NM_206933.4(USH2A):c.6889G>T (p.Ala2297Ser)
|
rs150634036
|
0.00001
|
|
NM_206933.4(USH2A):c.6908C>T (p.Ser2303Phe)
|
rs766809837
|
0.00001
|
|
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter)
|
rs1485173724
|
0.00001
|
|
NM_206933.4(USH2A):c.6968G>A (p.Arg2323Gln)
|
rs772014718
|
0.00001
|
|
NM_206933.4(USH2A):c.6969A>C (p.Arg2323=)
|
rs397518028
|
0.00001
|
|
NM_206933.4(USH2A):c.6988G>A (p.Glu2330Lys)
|
rs926377709
|
0.00001
|
|
NM_206933.4(USH2A):c.7039G>A (p.Val2347Met)
|
rs727503721
|
0.00001
|
|
NM_206933.4(USH2A):c.7051G>A (p.Ala2351Thr)
|
rs886042178
|
0.00001
|
|
NM_206933.4(USH2A):c.7105T>G (p.Phe2369Val)
|
rs1475753019
|
0.00001
|
|
NM_206933.4(USH2A):c.7156G>T (p.Val2386Phe)
|
rs199825458
|
0.00001
|
|
NM_206933.4(USH2A):c.7230A>T (p.Val2410=)
|
rs202162396
|
0.00001
|
|
NM_206933.4(USH2A):c.7300+1G>C
|
rs1343780391
|
0.00001
|
|
NM_206933.4(USH2A):c.7387G>A (p.Ala2463Thr)
|
rs374569301
|
0.00001
|
|
NM_206933.4(USH2A):c.7412T>A (p.Leu2471His)
|
rs1290644032
|
0.00001
|
|
NM_206933.4(USH2A):c.7436C>T (p.Thr2479Ile)
|
rs876658115
|
0.00001
|
|
NM_206933.4(USH2A):c.7594+2del
|
rs762608746
|
0.00001
|
|
NM_206933.4(USH2A):c.7596A>G (p.Lys2532=)
|
rs201084527
|
0.00001
|
|
NM_206933.4(USH2A):c.8009C>G (p.Thr2670Ser)
|
rs758382005
|
0.00001
|
|
NM_206933.4(USH2A):c.8021C>A (p.Thr2674Asn)
|
rs754677752
|
0.00001
|
|
NM_206933.4(USH2A):c.8120G>A (p.Gly2707Glu)
|
rs397518034
|
0.00001
|
|
NM_206933.4(USH2A):c.8167C>T (p.Arg2723Ter)
|
rs200712760
|
0.00001
|
|
NM_206933.4(USH2A):c.8168G>A (p.Arg2723Gln)
|
rs267598376
|
0.00001
|
|
NM_206933.4(USH2A):c.8200G>A (p.Val2734Met)
|
rs397518035
|
0.00001
|
|
NM_206933.4(USH2A):c.8232G>C (p.Trp2744Cys)
|
rs1424639717
|
0.00001
|
|
NM_206933.4(USH2A):c.8265T>C (p.Leu2755=)
|
rs727505274
|
0.00001
|
|
NM_206933.4(USH2A):c.82A>G (p.Ile28Val)
|
rs753515909
|
0.00001
|
|
NM_206933.4(USH2A):c.8392G>A (p.Gly2798Arg)
|
rs397518037
|
0.00001
|
|
NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter)
|
rs1064797134
|
0.00001
|
|
NM_206933.4(USH2A):c.8557A>T (p.Arg2853Ter)
|
rs749452910
|
0.00001
|
|
NM_206933.4(USH2A):c.8681+1G>A
|
rs876657733
|
0.00001
|
|
NM_206933.4(USH2A):c.8730T>A (p.Phe2910Leu)
|
rs373811292
|
0.00001
|
|
NM_206933.4(USH2A):c.8834G>A (p.Trp2945Ter)
|
rs760302201
|
0.00001
|
|
NM_206933.4(USH2A):c.8851C>G (p.Gln2951Glu)
|
rs201394390
|
0.00001
|
|
NM_206933.4(USH2A):c.8884C>A (p.Leu2962Ile)
|
rs761359720
|
0.00001
|
|
NM_206933.4(USH2A):c.897A>G (p.Gln299=)
|
rs201062965
|
0.00001
|
|
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter)
|
rs397518041
|
0.00001
|
|
NM_206933.4(USH2A):c.9056-2A>G
|
rs754970095
|
0.00001
|
|
NM_206933.4(USH2A):c.907C>A (p.Arg303Ser)
|
rs748465849
|
0.00001
|
|
NM_206933.4(USH2A):c.9095A>G (p.Asn3032Ser)
|
rs768579751
|
0.00001
|
|
NM_206933.4(USH2A):c.9109C>T (p.Arg3037Cys)
|
rs770418427
|
0.00001
|
|
NM_206933.4(USH2A):c.9156G>C (p.Glu3052Asp)
|
rs766298464
|
0.00001
|
|
NM_206933.4(USH2A):c.9258+1G>A
|
rs748810737
|
0.00001
|
|
NM_206933.4(USH2A):c.9259-14A>C
|
rs561590242
|
0.00001
|
|
NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter)
|
rs772100045
|
0.00001
|
|
NM_206933.4(USH2A):c.9655A>G (p.Thr3219Ala)
|
rs776395355
|
0.00001
|
|
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg)
|
rs111033263
|
0.00001
|
|
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)
|
rs764182950
|
0.00001
|
|
NM_206933.4(USH2A):c.9820T>A (p.Ser3274Thr)
|
rs1236116000
|
0.00001
|
|
NM_206933.4(USH2A):c.9851G>A (p.Gly3284Glu)
|
rs1043013730
|
0.00001
|
|
NM_206933.4(USH2A):c.9862G>C (p.Asp3288His)
|
rs1334903455
|
0.00001
|
|
NM_206933.4(USH2A):c.9884G>T (p.Cys3295Phe)
|
rs1662221668
|
0.00001
|
|
NM_206933.4(USH2A):c.9967T>G (p.Cys3323Gly)
|
rs766658893
|
0.00001
|
|
NM_206933.4(USH2A):c.9974G>A (p.Gly3325Glu)
|
rs1378786390
|
0.00001
|
|
NM_206933.4(USH2A):c.9982T>A (p.Tyr3328Asn)
|
rs1558099268
|
0.00001
|
|
NM_206933.4(USH2A):c.99_100insT (p.Arg34fs)
|
rs141672841
|
0.00001
|
|
NM_000019.4(ACAT1):c.-22C>G
|
rs3741054
|
|
|
NM_000019.4(ACAT1):c.10C>G (p.Leu4Val)
|
rs774524997
|
|
|
NM_000019.4(ACAT1):c.334+172C>G
|
rs12226047
|
|
|
NM_000019.4(ACAT1):c.826+85_826+86insGTAA
|
rs10682490
|
|
|
NM_000019.4(ACAT1):c.940+84C>T
|
rs12794010
|
|
|
NM_000023.4(SGCA):c.-5C>G
|
rs776195527
|
|
|
NM_000023.4(SGCA):c.1054G>T (p.Glu352Ter)
|
rs763372958
|
|
|
NM_000023.4(SGCA):c.1129A>G (p.Ser377Gly)
|
rs1376381665
|
|
|
NM_000023.4(SGCA):c.1153_1163del (p.Asp385fs)
|
rs1487379783
|
|
|
NM_000023.4(SGCA):c.13C>G (p.Leu5Val)
|
rs2144488329
|
|
|
NM_000023.4(SGCA):c.160G>A (p.Val54Ile)
|
rs1485826147
|
|
|
NM_000023.4(SGCA):c.168del (p.Ala57fs)
|
rs1555568264
|
|
|
NM_000023.4(SGCA):c.169G>A (p.Ala57Thr)
|
rs769778891
|
|
|
NM_000023.4(SGCA):c.203del (p.Gly68fs)
|
rs1567739228
|
|
|
NM_000023.4(SGCA):c.226C>T (p.Leu76Phe)
|
rs1555568335
|
|
|
NM_000023.4(SGCA):c.310G>A (p.Glu104Lys)
|
rs2144494625
|
|
|
NM_000023.4(SGCA):c.312G>A (p.Glu104=)
|
rs886044401
|
|
|
NM_000023.4(SGCA):c.313_319del (p.Val105Profs)
|
|
|
|
NM_000023.4(SGCA):c.322_325dup (p.Asn109fs)
|
rs1555568518
|
|
|
NM_000023.4(SGCA):c.341A>C (p.Asp114Ala)
|
rs749097695
|
|
|
NM_000023.4(SGCA):c.348_352dup (p.Gln118fs)
|
rs752640127
|
|
|
NM_000023.4(SGCA):c.37+6T>C
|
rs751466815
|
|
|
NM_000023.4(SGCA):c.38-46G>C
|
rs142537375
|
|
|
NM_000023.4(SGCA):c.386-16del
|
rs556088617
|
|
|
NM_000023.4(SGCA):c.391del (p.Leu131fs)
|
rs144356125
|
|
|
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter)
|
rs886043221
|
|
|
NM_000023.4(SGCA):c.464del (p.Ser155fs)
|
rs1555568775
|
|
|
NM_000023.4(SGCA):c.483_484delinsCT (p.Leu161_Gly162delinsPheTrp)
|
rs1555568788
|
|
|
NM_000023.4(SGCA):c.488dup (p.Leu164fs)
|
rs763986788
|
|
|
NM_000023.4(SGCA):c.541C>T (p.Arg181Cys)
|
rs574376340
|
|
|
NM_000023.4(SGCA):c.61_62insG (p.Thr21fs)
|
rs2144493097
|
|
|
NM_000023.4(SGCA):c.674G>A (p.Gly225Asp)
|
rs886044540
|
|
|
NM_000023.4(SGCA):c.676C>T (p.Gln226Ter)
|
rs1567741398
|
|
|
NM_000023.4(SGCA):c.724G>T (p.Val242Phe)
|
rs200166783
|
|
|
NM_000023.4(SGCA):c.747+1G>A
|
rs886043392
|
|
|
NM_000023.4(SGCA):c.781G>T (p.Val261Leu)
|
rs754703769
|
|
|
NM_000023.4(SGCA):c.790_791dup (p.Gly265fs)
|
rs1905254738
|
|
|
NM_000023.4(SGCA):c.819G>A (p.Pro273=)
|
rs35972733
|
|
|
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)
|
rs903823830
|
|
|
NM_000023.4(SGCA):c.956+2_956+19del
|
rs1555569342
|
|
|
NM_000057.4(BLM):c.1490A>C (p.Gln497Pro)
|
rs368547042
|
|
|
NM_000057.4(BLM):c.1691A>T (p.Asp564Val)
|
rs1555419944
|
|
|
NM_000057.4(BLM):c.2556-130C>T
|
rs28385056
|
|
|
NM_000057.4(BLM):c.3017T>A (p.Met1006Lys)
|
rs1896890020
|
|
|
NM_000057.4(BLM):c.3438_3439del (p.Phe1146fs)
|
rs2151194257
|
|
|
NM_000057.4(BLM):c.3946G>C (p.Asp1316His)
|
rs779179608
|
|
|
NM_000057.4(BLM):c.4077-59_4077-57dup
|
rs10685387
|
|
|
NM_000057.4(BLM):c.800-120T>C
|
rs7183841
|
|
|
NM_000070.3(CAPN3):c.104G>C (p.Gly35Ala)
|
rs2141102293
|
|
|
NM_000070.3(CAPN3):c.1395G>A (p.Leu465=)
|
rs760344791
|
|
|
NM_000070.3(CAPN3):c.2177C>T (p.Ala726Val)
|
rs2141223812
|
|
|
NM_000070.3(CAPN3):c.2195A>C (p.Lys732Thr)
|
rs2141224186
|
|
|
NM_000070.3(CAPN3):c.512G>A (p.Gly171Glu)
|
rs2141164606
|
|
|
NM_000070.3(CAPN3):c.801+1G>A
|
rs1459288402
|
|
|
NM_000091.5(COL4A3):c.1175G>A (p.Gly392Glu)
|
rs1114167371
|
|
|
NM_000091.5(COL4A3):c.127G>C (p.Gly43Arg)
|
rs13424243
|
|
|
NM_000091.5(COL4A3):c.1408+35C>T
|
rs771642290
|
|
|
NM_000091.5(COL4A3):c.2636del (p.Pro879fs)
|
rs2106164640
|
|
|
NM_000091.5(COL4A3):c.3323G>T (p.Ser1108Ile)
|
rs1574813579
|
|
|
NM_000091.5(COL4A3):c.3419-4del
|
rs35803812
|
|
|
NM_000091.5(COL4A3):c.3591A>G (p.Pro1197=)
|
rs753945261
|
|
|
NM_000091.5(COL4A3):c.3755C>G (p.Ala1252Gly)
|
rs761179248
|
|
|
NM_000091.5(COL4A3):c.4253-51G>A
|
rs73993953
|
|
|
NM_000091.5(COL4A3):c.4315G>A (p.Ala1439Thr)
|
rs2106284049
|
|
|
NM_000091.5(COL4A3):c.4386G>A (p.Glu1462=)
|
rs2073573869
|
|
|
NM_000091.5(COL4A3):c.441+150G>T
|
rs10168567
|
|
|
NM_000091.5(COL4A3):c.4721G>A (p.Trp1574Ter)
|
rs2106289552
|
|
|
NM_000091.5(COL4A3):c.4756-69A>G
|
rs2106294242
|
|
|
NM_000091.5(COL4A3):c.4756-74A>C
|
rs2106294221
|
|
|
NM_000091.5(COL4A3):c.828+84T>G
|
rs2125935070
|
|
|
NM_000092.5(COL4A4):c.2367A>T (p.Gly789=)
|
rs56247709
|
|
|
NM_000092.5(COL4A4):c.2594del (p.Pro865fs)
|
rs2150235627
|
|
|
NM_000092.5(COL4A4):c.3214+129G>C
|
rs2272203
|
|
|
NM_000092.5(COL4A4):c.3738C>T (p.Ala1246=)
|
rs2149978554
|
|
|
NM_000124.4(ERCC6):c.3778+1G>A
|
rs1554875114
|
|
|
NM_000208.4(INSR):c.1650G>A (p.Ala550=)
|
rs2059806
|
|
|
NM_000231.3(SGCG):c.579-24T>G
|
rs1536729
|
|
|
NM_000231.3(SGCG):c.579-26T>G
|
rs1536728
|
|
|
NM_000231.3(SGCG):c.740T>C (p.Leu247Pro)
|
rs2137534069
|
|
|
NM_000243.3(MEFV):c.1005C>T (p.Pro335=)
|
rs567739580
|
|
|
NM_000243.3(MEFV):c.1092G>A (p.Pro364=)
|
rs11466022
|
|
|
NM_000243.3(MEFV):c.1105C>A (p.Pro369Thr)
|
rs11466023
|
|
|
NM_000243.3(MEFV):c.1223G>T (p.Arg408Leu)
|
rs11466024
|
|
|
NM_000243.3(MEFV):c.1352T>G (p.Phe451Cys)
|
rs1958986915
|
|
|
NM_000243.3(MEFV):c.1368A>C (p.Glu456Asp)
|
rs1567233429
|
|
|
NM_000243.3(MEFV):c.1405G>T (p.Val469Leu)
|
rs104895173
|
|
|
NM_000243.3(MEFV):c.1432C>T (p.His478Tyr)
|
rs104895105
|
|
|
NM_000243.3(MEFV):c.1459G>A (p.Val487Met)
|
rs104895100
|
|
|
NM_000243.3(MEFV):c.1469T>C (p.Met490Thr)
|
rs2141669073
|
|
|
NM_000243.3(MEFV):c.1501C>G (p.Arg501Gly)
|
rs104895101
|
|
|
NM_000243.3(MEFV):c.1622T>C (p.Val541Ala)
|
rs922232615
|
|
|
NM_000243.3(MEFV):c.1685A>G (p.Gln562Arg)
|
rs1033941048
|
|
|
NM_000243.3(MEFV):c.1736G>A (p.Arg579His)
|
rs574055513
|
|
|
NM_000243.3(MEFV):c.1759+11C>T
|
rs370349451
|
|
|
NM_000243.3(MEFV):c.1773T>G (p.Ile591Met)
|
rs141706767
|
|
|
NM_000243.3(MEFV):c.180C>T (p.Tyr60=)
|
rs371505752
|
|
|
NM_000243.3(MEFV):c.1895G>C (p.Gly632Ala)
|
rs967990798
|
|
|
NM_000243.3(MEFV):c.1957C>A (p.Arg653Ser)
|
rs375716505
|
|
|
NM_000243.3(MEFV):c.201_202delinsTT (p.Gln68Ter)
|
rs1959115695
|
|
|
NM_000243.3(MEFV):c.2024G>A (p.Ser675Asn)
|
rs104895087
|
|
|
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)
|
rs28940580
|
|
|
NM_000243.3(MEFV):c.2044_2045del (p.Leu682fs)
|
rs1355225244
|
|
|
NM_000243.3(MEFV):c.2068G>C (p.Val690Leu)
|
rs1281153557
|
|
|
NM_000243.3(MEFV):c.2150G>A (p.Arg717His)
|
rs545517350
|
|
|
NM_000243.3(MEFV):c.2150G>T (p.Arg717Leu)
|
rs545517350
|
|
|
NM_000243.3(MEFV):c.2229C>G (p.Phe743Leu)
|
rs104895152
|
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
|
NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys)
|
rs104895171
|
|
|
NM_000243.3(MEFV):c.2271C>T (p.Ser757=)
|
rs772754956
|
|
|
NM_000243.3(MEFV):c.2287G>A (p.Gly763Arg)
|
rs2141664466
|
|
|
NM_000243.3(MEFV):c.2310_2313del (p.Thr771fs)
|
rs757708595
|
|
|
NM_000243.3(MEFV):c.2333A>G (p.Gln778Arg)
|
rs2141664404
|
|
|
NM_000243.3(MEFV):c.250G>C (p.Glu84Gln)
|
rs150819742
|
|
|
NM_000243.3(MEFV):c.268G>C (p.Ala90Pro)
|
rs376971129
|
|
|
NM_000243.3(MEFV):c.289C>A (p.Gln97Lys)
|
rs747515115
|
|
|
NM_000243.3(MEFV):c.298G>C (p.Gly100Arg)
|
rs772332566
|
|
|
NM_000243.3(MEFV):c.322A>C (p.Ser108Arg)
|
rs104895103
|
|
|
NM_000243.3(MEFV):c.342G>A (p.Lys114=)
|
rs981883034
|
|
|
NM_000243.3(MEFV):c.369C>A (p.His123Gln)
|
rs587783379
|
|
|
NM_000243.3(MEFV):c.378G>T (p.Gly126=)
|
rs777867857
|
|
|
NM_000243.3(MEFV):c.405C>G (p.Tyr135Ter)
|
rs766323718
|
|
|
NM_000243.3(MEFV):c.407G>A (p.Gly136Glu)
|
rs876660989
|
|
|
NM_000243.3(MEFV):c.410del (p.Gly137fs)
|
rs767006697
|
|
|
NM_000243.3(MEFV):c.414A>G (p.Gly138=)
|
rs224224
|
|
|
NM_000243.3(MEFV):c.414A>T (p.Gly138=)
|
rs224224
|
|
|
NM_000243.3(MEFV):c.436C>T (p.Gln146Ter)
|
rs876660990
|
|
|
NM_000243.3(MEFV):c.439C>G (p.Pro147Ala)
|
rs876660991
|
|
|
NM_000243.3(MEFV):c.497C>T (p.Ser166Leu)
|
rs766670643
|
|
|
NM_000243.3(MEFV):c.511G>A (p.Ala171Thr)
|
rs876660993
|
|
|
NM_000243.3(MEFV):c.532C>T (p.Arg178Trp)
|
rs1555459404
|
|
|
NM_000243.3(MEFV):c.547C>A (p.Pro183Thr)
|
rs202196752
|
|
|
NM_000243.3(MEFV):c.548C>T (p.Pro183Leu)
|
rs777009752
|
|
|
NM_000243.3(MEFV):c.564C>G (p.Pro188=)
|
rs775755423
|
|
|
NM_000243.3(MEFV):c.564C>T (p.Pro188=)
|
rs775755423
|
|
|
NM_000243.3(MEFV):c.565_570dup (p.Gly189_Pro190dup)
|
rs761993422
|
|
|
NM_000243.3(MEFV):c.586G>C (p.Gly196Arg)
|
rs104895179
|
|
|
NM_000243.3(MEFV):c.623G>C (p.Ser208Thr)
|
rs759326778
|
|
|
NM_000243.3(MEFV):c.751G>A (p.Glu251Lys)
|
rs104895111
|
|
|
NM_000243.3(MEFV):c.803C>T (p.Ala268Val)
|
rs104895123
|
|
|
NM_000243.3(MEFV):c.848C>G (p.Pro283Arg)
|
rs104895119
|
|
|
NM_000243.3(MEFV):c.916C>T (p.Pro306Ser)
|
rs906390314
|
|
|
NM_000243.3(MEFV):c.933G>A (p.Ala311=)
|
rs774547197
|
|
|
NM_000245.4(MET):c.2584-9del
|
rs57349036
|
|
|
NM_000254.3(MTR):c.2474-18del
|
rs150727404
|
|
|
NM_000260.4(MYO7A):c.1165G>A (p.Glu389Lys)
|
rs782227657
|
|
|
NM_000260.4(MYO7A):c.1343+8G>A
|
rs2276278
|
|
|
NM_000260.4(MYO7A):c.1554+244T>C
|
rs3740763
|
|
|
NM_000260.4(MYO7A):c.185C>T (p.Thr62Met)
|
rs782412089
|
|
|
NM_000260.4(MYO7A):c.2695-58C>G
|
rs3740762
|
|
|
NM_000260.4(MYO7A):c.3375+33G>C
|
rs948972
|
|
|
NM_000260.4(MYO7A):c.3924+109G>A
|
rs4944148
|
|
|
NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala)
|
rs751242455
|
|
|
NM_000260.4(MYO7A):c.5860C>A (p.Leu1954Ile)
|
rs948962
|
|
|
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg)
|
rs876657655
|
|
|
NM_000260.4(MYO7A):c.6464C>T (p.Thr2155Ile)
|
rs1408119204
|
|
|
NM_000260.4(MYO7A):c.843G>A (p.Leu281=)
|
rs1555064274
|
|
|
NM_000271.5(NPC1):c.1114_1115insT (p.Arg372fs)
|
rs2145457097
|
|
|
NM_000271.5(NPC1):c.1293del (p.Phe431fs)
|
rs2145455429
|
|
|
NM_000271.5(NPC1):c.1433A>C (p.Asn478Thr)
|
rs2145447716
|
|
|
NM_000271.5(NPC1):c.1743G>A (p.Gln581=)
|
rs1234473868
|
|
|
NM_000271.5(NPC1):c.3205A>G (p.Met1069Val)
|
rs1567946736
|
|
|
NM_000271.5(NPC1):c.3701T>C (p.Leu1234Ser)
|
rs2145335710
|
|
|
NM_000271.5(NPC1):c.442G>C (p.Val148Leu)
|
rs200323346
|
|
|
NM_000271.5(NPC1):c.761C>G (p.Pro254Arg)
|
rs752145311
|
|
|
NM_000271.5(NPC1):c.839del (p.Leu280fs)
|
rs1057518711
|
|
|
NM_000277.3(PAH):c.1089G>C (p.Lys363Asn)
|
rs63329263
|
|
|
NM_000277.3(PAH):c.1339G>A (p.Ala447Thr)
|
rs1192400891
|
|
|
NM_000277.3(PAH):c.305T>C (p.Ile102Thr)
|
rs62508591
|
|
|
NM_000277.3(PAH):c.529G>A (p.Val177Met)
|
rs199475602
|
|
|
NM_000277.3(PAH):c.620A>G (p.Asn207Ser)
|
rs62508721
|
|
|
NM_000277.3(PAH):c.931_932del (p.Leu311fs)
|
rs281865430
|
|
|
NM_000288.4(PEX7):c.-95T>C
|
rs1321471
|
|
|
NM_000288.4(PEX7):c.38G>A (p.Arg13Gln)
|
rs1220044805
|
|
|
NM_000317.3(PTS):c.118_121del (p.Phe40fs)
|
rs747260038
|
|
|
NM_000317.3(PTS):c.146A>G (p.His49Arg)
|
rs750229518
|
|
|
NM_000317.3(PTS):c.166G>A (p.Val56Met)
|
rs104894277
|
|
|
NM_000317.3(PTS):c.166GTG[1] (p.Val57del)
|
rs770387277
|
|
|
NM_000317.3(PTS):c.238A>G (p.Met80Val)
|
rs1057517810
|
|
|
NM_000317.3(PTS):c.244-1G>T
|
rs1555198451
|
|
|
NM_000317.3(PTS):c.259C>T (p.Pro87Ser)
|
rs104894276
|
|
|
NM_000317.3(PTS):c.281A>G (p.Asp94Gly)
|
rs1057517811
|
|
|
NM_000317.3(PTS):c.340A>G (p.Ile114Val)
|
rs1555198495
|
|
|
NM_000317.3(PTS):c.393del (p.Val132fs)
|
rs780332520
|
|
|
NM_000317.3(PTS):c.400G>T (p.Glu134Ter)
|
rs779681799
|
|
|
NM_000317.3(PTS):c.83+1G>A
|
rs927103678
|
|
|
NM_000318.3(PEX2):c.-17-41G>T
|
rs10957830
|
|
|
NM_000318.3(PEX2):c.483A>G (p.Gly161=)
|
rs2132043885
|
|
|
NM_000329.3(RPE65):c.1067del (p.Asn356fs)
|
rs281865520
|
|
|
NM_000329.3(RPE65):c.1205G>C (p.Trp402Ser)
|
rs774130993
|
|
|
NM_000337.5(SGCD):c.-626_-616del
|
rs149976574
|
|
|
NM_000337.6(SGCD):c.*1906C>G
|
rs540017785
|
|
|
NM_000337.6(SGCD):c.*1907G>A
|
rs75063526
|
|
|
NM_000337.6(SGCD):c.*2813C>A
|
rs886060297
|
|
|
NM_000337.6(SGCD):c.*2814G>A
|
rs142023087
|
|
|
NM_000337.6(SGCD):c.*4935C>T
|
rs1029399512
|
|
|
NM_000337.6(SGCD):c.*6223T>A
|
rs886060313
|
|
|
NM_000337.6(SGCD):c.*6518C>T
|
rs1165157961
|
|
|
NM_000337.6(SGCD):c.*6660dup
|
rs57240389
|
|
|
NM_000337.6(SGCD):c.*6664C>T
|
rs1010222786
|
|
|
NM_000337.6(SGCD):c.-44+1_-44+2dup
|
rs1554093294
|
|
|
NM_000337.6(SGCD):c.-44+2T>A
|
rs1300537737
|
|
|
NM_000337.6(SGCD):c.-94C>G
|
rs13170573
|
|
|
NM_000337.6(SGCD):c.105G>C (p.Leu35=)
|
rs193922392
|
|
|
NM_000337.6(SGCD):c.105G>T (p.Leu35=)
|
rs193922392
|
|
|
NM_000337.6(SGCD):c.116T>C (p.Val39Ala)
|
rs794729164
|
|
|
NM_000337.6(SGCD):c.177C>T (p.Val59=)
|
rs727505265
|
|
|
NM_000337.6(SGCD):c.192+1G>A
|
rs1267810339
|
|
|
NM_000337.6(SGCD):c.204A>G (p.Gly68=)
|
|
|
|
NM_000337.6(SGCD):c.25C>T (p.His9Tyr)
|
rs1320640424
|
|
|
NM_000337.6(SGCD):c.268T>A (p.Tyr90Asn)
|
rs786205286
|
|
|
NM_000337.6(SGCD):c.274A>C (p.Lys92Gln)
|
rs1159364901
|
|
|
NM_000337.6(SGCD):c.294+1G>A
|
rs727503422
|
|
|
NM_000337.6(SGCD):c.3+19C>T
|
rs182715924
|
|
|
NM_000337.6(SGCD):c.337A>C (p.Asn113His)
|
rs1760624404
|
|
|
NM_000337.6(SGCD):c.358A>G (p.Lys120Glu)
|
rs956992133
|
|
|
NM_000337.6(SGCD):c.363G>T (p.Val121=)
|
rs1327634775
|
|
|
NM_000337.6(SGCD):c.383-33CTCTCTAT[4]
|
rs727504998
|
|
|
NM_000337.6(SGCD):c.390del (p.Ala131fs)
|
rs397517921
|
|
|
NM_000337.6(SGCD):c.415T>A (p.Phe139Ile)
|
rs886044160
|
|
|
NM_000337.6(SGCD):c.452C>T (p.Ser151Phe)
|
rs766924806
|
|
|
NM_000337.6(SGCD):c.481G>A (p.Ala161Thr)
|
rs886043902
|
|
|
NM_000337.6(SGCD):c.534A>G (p.Ile178Met)
|
rs1474496504
|
|
|
NM_000337.6(SGCD):c.538A>T (p.Thr180Ser)
|
rs1187720404
|
|
|
NM_000337.6(SGCD):c.586C>A (p.Pro196Thr)
|
rs1757387093
|
|
|
NM_000337.6(SGCD):c.594G>T (p.Arg198=)
|
rs754875886
|
|
|
NM_000337.6(SGCD):c.616A>G (p.Lys206Glu)
|
rs1327580871
|
|
|
NM_000337.6(SGCD):c.699+13_699+15del
|
rs397517924
|
|
|
NM_000337.6(SGCD):c.775_777del (p.Lys259del)
|
rs1207864818
|
|
|
NM_000337.6(SGCD):c.832G>T (p.Ala278Ser)
|
rs753240054
|
|
|
NM_000337.6(SGCD):c.97C>T (p.Arg33Ter)
|
rs778760498
|
|
|
NM_000360.4(TH):c.1002del (p.His335fs)
|
rs2133692304
|
|
|
NM_000360.4(TH):c.1048-110A>C
|
rs4072823
|
|
|
NM_000360.4(TH):c.696-138G>A
|
rs7925784
|
|
|
NM_000370.3(TTPA):c.359-3del
|
rs398123340
|
|
|
NM_000372.5(TYR):c.1185-2A>G
|
rs1289685376
|
|
|
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala)
|
rs797046081
|
|
|
NM_000372.5(TYR):c.125A>G (p.Asp42Gly)
|
rs28940878
|
|
|
NM_000372.5(TYR):c.1267del (p.Glu423fs)
|
rs1565423674
|
|
|
NM_000372.5(TYR):c.1275C>G (p.Tyr425Ter)
|
rs1590902378
|
|
|
NM_000372.5(TYR):c.1342G>A (p.Asp448Asn)
|
rs104894318
|
|
|
NM_000372.5(TYR):c.1456del (p.Ala486fs)
|
rs1590909462
|
|
|
NM_000372.5(TYR):c.286dup (p.Met96fs)
|
rs61753190
|
|
|
NM_000372.5(TYR):c.338_339del (p.Thr113fs)
|
rs61753254
|
|
|
NM_000372.5(TYR):c.387_389delinsGG (p.Glu130fs)
|
rs1565386582
|
|
|
NM_000372.5(TYR):c.391_393del (p.Lys131del)
|
rs1413017181
|
|
|
NM_000372.5(TYR):c.572del (p.Gly191fs)
|
rs61754361
|
|
|
NM_000372.5(TYR):c.616G>A (p.Ala206Thr)
|
rs28940880
|
|
|
NM_000372.5(TYR):c.655G>A (p.Glu219Lys)
|
rs747995722
|
|
|
NM_000372.5(TYR):c.661G>A (p.Glu221Lys)
|
rs758115945
|
|
|
NM_000372.5(TYR):c.714G>A (p.Trp238Ter)
|
rs1565386964
|
|
|
NM_000372.5(TYR):c.732_733del (p.Cys244_Asp245delinsTer)
|
rs61754368
|
|
|
NM_000372.5(TYR):c.753C>A (p.Tyr251Ter)
|
rs765329261
|
|
|
NM_000372.5(TYR):c.757G>A (p.Gly253Arg)
|
rs61754369
|
|
|
NM_000372.5(TYR):c.820-3C>G
|
rs61754371
|
|
|
NM_000372.5(TYR):c.895C>A (p.Arg299Ser)
|
rs61754374
|
|
|
NM_000372.5(TYR):c.929dup (p.Arg311fs)
|
rs281865527
|
|
|
NM_000372.5(TYR):c.976C>T (p.Gln326Ter)
|
rs540911439
|
|
|
NM_000372.5(TYR):c.982G>A (p.Glu328Lys)
|
rs61754380
|
|
|
NM_000382.3(ALDH3A2):c.1207+130del
|
rs59755039
|
|
|
NM_000382.3(ALDH3A2):c.681-37_681-30del
|
rs3034928
|
|
|
NM_000414.4(HSD17B4):c.-75C>G
|
rs26180
|
|
|
NM_000441.2(SLC26A4):c.-8G>A
|
rs886061882
|
|
|
NM_000441.2(SLC26A4):c.1001+1G>T
|
rs80338849
|
|
|
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val)
|
rs146281367
|
|
|
NM_000441.2(SLC26A4):c.1105A>T (p.Lys369Ter)
|
rs121908361
|
|
|
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr)
|
rs201562855
|
|
|
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)
|
rs397516413
|
|
|
NM_000441.2(SLC26A4):c.1222del (p.Ser408fs)
|
rs886043058
|
|
|
NM_000441.2(SLC26A4):c.1264-1G>C
|
rs111033311
|
|
|
NM_000441.2(SLC26A4):c.1265T>C (p.Val422Ala)
|
rs1057520369
|
|
|
NM_000441.2(SLC26A4):c.1308_1313del (p.Ala437_Leu438del)
|
rs111033207
|
|
|
NM_000441.2(SLC26A4):c.1415G>A (p.Trp472Ter)
|
rs1554359693
|
|
|
NM_000441.2(SLC26A4):c.142G>T (p.Glu48Ter)
|
rs201636911
|
|
|
NM_000441.2(SLC26A4):c.1437+2T>G
|
rs397516418
|
|
|
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer)
|
rs786204601
|
|
|
NM_000441.2(SLC26A4):c.1522A>G (p.Thr508Ala)
|
rs727505088
|
|
|
NM_000441.2(SLC26A4):c.1544+1G>A
|
rs876657722
|
|
|
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs)
|
rs786204450
|
|
|
NM_000441.2(SLC26A4):c.1554G>A (p.Trp518Ter)
|
rs727503428
|
|
|
NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro)
|
rs1554360358
|
|
|
NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser)
|
rs786204739
|
|
|
NM_000441.2(SLC26A4):c.1595G>T (p.Ser532Ile)
|
rs1057516243
|
|
|
NM_000441.2(SLC26A4):c.1614+1G>C
|
rs111033312
|
|
|
NM_000441.2(SLC26A4):c.164+1del
|
rs786204504
|
|
|
NM_000441.2(SLC26A4):c.164+2T>C
|
rs397516420
|
|
|
NM_000441.2(SLC26A4):c.1651dup (p.Ser551fs)
|
rs1554360678
|
|
|
NM_000441.2(SLC26A4):c.1692dup (p.Cys565fs)
|
rs746427774
|
|
|
NM_000441.2(SLC26A4):c.1915G>T (p.Asp639Tyr)
|
rs747919826
|
|
|
NM_000441.2(SLC26A4):c.2018T>G (p.Val673Gly)
|
rs886061887
|
|
|
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln)
|
rs111033318
|
|
|
NM_000441.2(SLC26A4):c.2118C>A (p.Cys706Ter)
|
rs142656144
|
|
|
NM_000441.2(SLC26A4):c.2127del (p.Phe709fs)
|
rs786204523
|
|
|
NM_000441.2(SLC26A4):c.2131G>A (p.Asp711Asn)
|
rs145805875
|
|
|
NM_000441.2(SLC26A4):c.2167C>G (p.His723Asp)
|
rs1417146153
|
|
|
NM_000441.2(SLC26A4):c.2215C>T (p.Gln739Ter)
|
rs727503431
|
|
|
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val)
|
rs111033310
|
|
|
NM_000441.2(SLC26A4):c.2224del (p.Ile742fs)
|
rs876657723
|
|
|
NM_000441.2(SLC26A4):c.2228T>A (p.Leu743Ter)
|
rs1057517303
|
|
|
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter)
|
rs786204581
|
|
|
NM_000441.2(SLC26A4):c.249G>A (p.Trp83Ter)
|
rs1057516658
|
|
|
NM_000441.2(SLC26A4):c.304+2T>C
|
rs746238617
|
|
|
NM_000441.2(SLC26A4):c.445G>A (p.Gly149Arg)
|
rs761210511
|
|
|
NM_000441.2(SLC26A4):c.486C>T (p.Leu162=)
|
rs370020280
|
|
|
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg)
|
rs111033380
|
|
|
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)
|
rs111033256
|
|
|
NM_000441.2(SLC26A4):c.737del (p.Asn246fs)
|
rs918684449
|
|
|
NM_000441.2(SLC26A4):c.765+2T>C
|
rs397516432
|
|
|
NM_000441.2(SLC26A4):c.794G>C (p.Gly265Ala)
|
rs775490005
|
|
|
NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter)
|
rs111033205
|
|
|
NM_000441.2(SLC26A4):c.890del (p.Pro297fs)
|
rs786204600
|
|
|
NM_000441.2(SLC26A4):c.918+1G>T
|
rs111033245
|
|
|
NM_000441.2(SLC26A4):c.946G>T (p.Gly316Ter)
|
rs1554357231
|
|
|
NM_000466.3(PEX1):c.1533del (p.Asp512fs)
|
rs2116205361
|
|
|
NM_000466.3(PEX1):c.1688G>A (p.Gly563Asp)
|
rs2116181769
|
|
|
NM_000466.3(PEX1):c.1716C>A (p.His572Gln)
|
rs1792228135
|
|
|
NM_000466.3(PEX1):c.1890del (p.Ala631fs)
|
rs2116175944
|
|
|
NM_000466.3(PEX1):c.1927del (p.Thr643fs)
|
rs1554372180
|
|
|
NM_000466.3(PEX1):c.2099T>C (p.Ile700Thr)
|
rs1792017598
|
|
|
NM_000466.3(PEX1):c.2443C>T (p.Gln815Ter)
|
rs1306607552
|
|
|
NM_000466.3(PEX1):c.2584-10T>C
|
rs375129444
|
|
|
NM_000466.3(PEX1):c.2584-10del
|
rs5885806
|
|
|
NM_000466.3(PEX1):c.3221G>T (p.Ser1074Ile)
|
rs1164302223
|
|
|
NM_000466.3(PEX1):c.3572A>C (p.Glu1191Ala)
|
rs2116043736
|
|
|
NM_000466.3(PEX1):c.927C>G (p.His309Gln)
|
rs2116244426
|
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
|
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser)
|
rs1800086
|
|
|
NM_000492.4(CFTR):c.1052C>T (p.Thr351Ile)
|
rs1800086
|
|
|
NM_000492.4(CFTR):c.117A>T (p.Gln39His)
|
rs764522674
|
|
|
NM_000492.4(CFTR):c.1187A>C (p.Asn396Thr)
|
rs1396443734
|
|
|
NM_000492.4(CFTR):c.1196C>T (p.Ala399Val)
|
rs146463120
|
|
|
NM_000492.4(CFTR):c.1210-6del
|
rs1805177
|
|
|
NM_000492.4(CFTR):c.1211del
|
rs1235397597
|
|
|
NM_000492.4(CFTR):c.1220A>T (p.Glu407Val)
|
rs397508180
|
|
|
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys)
|
rs4727853
|
|
|
NM_000492.4(CFTR):c.1265C>T (p.Ser422Phe)
|
rs201880593
|
|
|
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr)
|
rs397508191
|
|
|
NM_000492.4(CFTR):c.1364C>T (p.Ala455Val)
|
rs74551128
|
|
|
NM_000492.4(CFTR):c.1365G>T (p.Ala455=)
|
rs79074685
|
|
|
NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro)
|
rs1554382664
|
|
|
NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser)
|
rs79282516
|
|
|
NM_000492.4(CFTR):c.1446T>A (p.Ile482=)
|
rs914422460
|
|
|
NM_000492.4(CFTR):c.1472G>T (p.Cys491Phe)
|
rs778205742
|
|
|
NM_000492.4(CFTR):c.1486T>C (p.Trp496Arg)
|
rs1554384382
|
|
|
NM_000492.4(CFTR):c.1492A>G (p.Met498Val)
|
rs1562898400
|
|
|
NM_000492.4(CFTR):c.1495C>T (p.Pro499Ser)
|
rs397508219
|
|
|
NM_000492.4(CFTR):c.1505T>A (p.Ile502Asn)
|
rs397508222
|
|
|
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile)
|
rs77646904
|
|
|
NM_000492.4(CFTR):c.1571G>A (p.Cys524Tyr)
|
rs1554384440
|
|
|
NM_000492.4(CFTR):c.1584G>T (p.Glu528Asp)
|
rs1800095
|
|
|
NM_000492.4(CFTR):c.1602A>G (p.Ala534=)
|
rs1584810152
|
|
|
NM_000492.4(CFTR):c.164+2dup
|
rs1554375870
|
|
|
NM_000492.4(CFTR):c.164+9A>T
|
rs397508245
|
|
|
NM_000492.4(CFTR):c.1681G>A (p.Ala561Thr)
|
rs1226880376
|
|
|
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile)
|
rs1800097
|
|
|
NM_000492.4(CFTR):c.1684G>C (p.Val562Leu)
|
rs1800097
|
|
|
NM_000492.4(CFTR):c.1704G>T (p.Leu568Phe)
|
rs397508275
|
|
|
NM_000492.4(CFTR):c.1730A>T (p.Tyr577Phe)
|
rs397508286
|
|
|
NM_000492.4(CFTR):c.1763A>G (p.Glu588Gly)
|
rs397508297
|
|
|
NM_000492.4(CFTR):c.1783A>G (p.Met595Val)
|
rs750140050
|
|
|
NM_000492.4(CFTR):c.1811C>T (p.Thr604Ile)
|
rs397508308
|
|
|
NM_000492.4(CFTR):c.1826A>T (p.His609Leu)
|
rs397508310
|
|
|
NM_000492.4(CFTR):c.184G>A (p.Ala62Thr)
|
rs1584776330
|
|
|
NM_000492.4(CFTR):c.184G>C (p.Ala62Pro)
|
rs1584776330
|
|
|
NM_000492.4(CFTR):c.1897C>A (p.Leu633Ile)
|
rs397508317
|
|
|
NM_000492.4(CFTR):c.1911del (p.Gln637fs)
|
rs1554389296
|
|
|
NM_000492.4(CFTR):c.1950C>A (p.Phe650Leu)
|
rs200204024
|
|
|
NM_000492.4(CFTR):c.1960A>T (p.Ser654Cys)
|
rs1800099
|
|
|
NM_000492.4(CFTR):c.2026C>G (p.Pro676Ala)
|
rs762888022
|
|
|
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)
|
rs1800076
|
|
|
NM_000492.4(CFTR):c.2252G>T (p.Arg751Leu)
|
rs397508357
|
|
|
NM_000492.4(CFTR):c.228T>G (p.Cys76Trp)
|
rs777536750
|
|
|
NM_000492.4(CFTR):c.2420T>C (p.Ile807Thr)
|
rs1554389471
|
|
|
NM_000492.4(CFTR):c.244A>G (p.Met82Val)
|
rs1554376431
|
|
|
NM_000492.4(CFTR):c.2557A>T (p.Ile853Phe)
|
rs780187979
|
|
|
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn)
|
rs201864483
|
|
|
NM_000492.4(CFTR):c.2684G>C (p.Ser895Thr)
|
rs201864483
|
|
|
NM_000492.4(CFTR):c.2706C>G (p.Ser902Arg)
|
rs397508422
|
|
|
NM_000492.4(CFTR):c.273+8T>A
|
rs1189108407
|
|
|
NM_000492.4(CFTR):c.2736G>C (p.Ser912=)
|
rs200901072
|
|
|
NM_000492.4(CFTR):c.274G>A (p.Glu92Lys)
|
rs121908751
|
|
|
NM_000492.4(CFTR):c.276A>T (p.Glu92Asp)
|
rs397508432
|
|
|
NM_000492.4(CFTR):c.2770G>C (p.Asp924His)
|
rs201759207
|
|
|
NM_000492.4(CFTR):c.2777T>C (p.Leu926Ser)
|
rs757410423
|
|
|
NM_000492.4(CFTR):c.2812G>C (p.Val938Leu)
|
rs749784731
|
|
|
NM_000492.4(CFTR):c.2812G>T (p.Val938Leu)
|
rs749784731
|
|
|
NM_000492.4(CFTR):c.2909-4A>G
|
rs397508457
|
|
|
NM_000492.4(CFTR):c.29G>A (p.Ser10Asn)
|
rs762241850
|
|
|
NM_000492.4(CFTR):c.3001G>A (p.Val1001Met)
|
rs193922731
|
|
|
NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu)
|
rs193922516
|
|
|
NM_000492.4(CFTR):c.3061C>T (p.Pro1021Ser)
|
rs397508491
|
|
|
NM_000492.4(CFTR):c.3139G>T (p.Gly1047Cys)
|
rs397508504
|
|
|
NM_000492.4(CFTR):c.316A>G (p.Ile106Val)
|
rs1024092547
|
|
|
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe)
|
rs397508520
|
|
|
NM_000492.4(CFTR):c.3256A>G (p.Thr1086Ala)
|
rs373043500
|
|
|
NM_000492.4(CFTR):c.3256A>T (p.Thr1086Ser)
|
rs373043500
|
|
|
NM_000492.4(CFTR):c.3257C>T (p.Thr1086Ile)
|
rs77958296
|
|
|
NM_000492.4(CFTR):c.328G>C (p.Asp110His)
|
rs113993958
|
|
|
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr)
|
rs113993958
|
|
|
NM_000492.4(CFTR):c.331C>G (p.Pro111Ala)
|
rs397508541
|
|
|
NM_000492.4(CFTR):c.3420G>A (p.Met1140Ile)
|
rs1554392775
|
|
|
NM_000492.4(CFTR):c.3485G>A (p.Arg1162Gln)
|
rs1800120
|
|
|
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly)
|
rs77834169
|
|
|
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)
|
rs77834169
|
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
|
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu)
|
rs78655421
|
|
|
NM_000492.4(CFTR):c.3590A>T (p.His1197Leu)
|
rs765133036
|
|
|
NM_000492.4(CFTR):c.3672T>A (p.Asn1224Lys)
|
rs371475225
|
|
|
NM_000492.4(CFTR):c.3680T>C (p.Leu1227Ser)
|
rs397508593
|
|
|
NM_000492.4(CFTR):c.3794G>T (p.Gly1265Val)
|
rs1554395370
|
|
|
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys)
|
rs77010898
|
|
|
NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile)
|
rs397508634
|
|
|
NM_000492.4(CFTR):c.3945A>G (p.Ile1315Met)
|
rs1554396417
|
|
|
NM_000492.4(CFTR):c.3953T>C (p.Val1318Ala)
|
rs397508648
|
|
|
NM_000492.4(CFTR):c.4053G>C (p.Lys1351Asn)
|
rs763602969
|
|
|
NM_000492.4(CFTR):c.4061T>C (p.Met1354Thr)
|
rs755993775
|
|
|
NM_000492.4(CFTR):c.4085G>A (p.Ser1362Asn)
|
rs777892053
|
|
|
NM_000492.4(CFTR):c.4129G>A (p.Asp1377Asn)
|
rs150683293
|
|
|
NM_000492.4(CFTR):c.416A>T (p.His139Leu)
|
rs76371115
|
|
|
NM_000492.4(CFTR):c.4202A>G (p.Glu1401Gly)
|
rs397508697
|
|
|
NM_000492.4(CFTR):c.4231C>T (p.Gln1411Ter)
|
rs397508701
|
|
|
NM_000492.4(CFTR):c.4277C>A (p.Ser1426Tyr)
|
rs762847468
|
|
|
NM_000492.4(CFTR):c.4296C>G (p.Asn1432Lys)
|
rs761669740
|
|
|
NM_000492.4(CFTR):c.4439T>C (p.Leu1480Pro)
|
rs758818611
|
|
|
NM_000492.4(CFTR):c.443T>A (p.Ile148Asn)
|
rs35516286
|
|
|
NM_000492.4(CFTR):c.464C>G (p.Ala155Gly)
|
rs1554379882
|
|
|
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn)
|
rs397508725
|
|
|
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu)
|
rs397508731
|
|
|
NM_000492.4(CFTR):c.489+10C>G
|
rs1447914513
|
|
|
NM_000492.4(CFTR):c.508C>T (p.Arg170Cys)
|
rs578029902
|
|
|
NM_000492.4(CFTR):c.523A>G (p.Ile175Val)
|
rs397508744
|
|
|
NM_000492.4(CFTR):c.547C>A (p.Leu183Ile)
|
rs397508751
|
|
|
NM_000492.4(CFTR):c.558C>G (p.Asn186Lys)
|
rs397508753
|
|
|
NM_000492.4(CFTR):c.575A>T (p.Asp192Val)
|
rs397508758
|
|
|
NM_000492.4(CFTR):c.592G>A (p.Ala198Thr)
|
rs193922529
|
|
|
NM_000492.4(CFTR):c.592G>C (p.Ala198Pro)
|
rs193922529
|
|
|
NM_000492.4(CFTR):c.593C>T (p.Ala198Val)
|
rs73215910
|
|
|
NM_000492.4(CFTR):c.598T>A (p.Phe200Ile)
|
rs397508766
|
|
|
NM_000492.4(CFTR):c.646T>C (p.Trp216Arg)
|
rs1562890551
|
|
|
NM_000492.4(CFTR):c.682G>T (p.Gly228Cys)
|
rs1435574279
|
|
|
NM_000492.4(CFTR):c.701C>A (p.Ala234Asp)
|
rs769016520
|
|
|
NM_000492.4(CFTR):c.711G>C (p.Gln237His)
|
rs397508785
|
|
|
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly)
|
rs1554380515
|
|
|
NM_000492.4(CFTR):c.92G>A (p.Arg31His)
|
rs149353983
|
|
|
NM_000492.4(CFTR):c.960A>G (p.Leu320=)
|
rs56093012
|
|
|
NM_000492.4(CFTR):c.971C>T (p.Pro324Leu)
|
rs397508822
|
|
|
NM_000506.5(F2):c.423-7G>C
|
rs2070852
|
|
|
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)
|
rs33946267
|
|
|
NM_000543.5(SMPD1):c.1022G>A (p.Arg341His)
|
rs200242334
|
|
|
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5])
|
rs3838786
|
|
|
NM_000543.5(SMPD1):c.1810G>A (p.Asp604Asn)
|
rs2134024509
|
|
|
NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro)
|
rs797044797
|
|
|
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)
|
rs202081954
|
|
|
NM_000553.6(WRN):c.1982-5del
|
rs397723919
|
|
|
NM_000553.6(WRN):c.3234-130T>C
|
rs2725364
|
|
|
NM_000553.6(WRN):c.3983-12dup
|
rs368931913
|
|
|
NM_000553.6(WRN):c.725-9del
|
rs543830844
|
|
|
NM_000553.6(WRN):c.839+25del
|
rs370040831
|
|
|
NM_000601.6(HGF):c.866-22del
|
rs5745686
|
|
|
NM_001005920.4(JMJD8):c.*506del
|
rs3216838
|
|
|
NM_001017420.3(ESCO2):c.861+1G>A
|
rs1804814100
|
|
|
NM_001034852.3(SMOC1):c.126G>A (p.Gln42=)
|
rs3742909
|
|
|
NM_001034852.3(SMOC1):c.858-27del
|
rs139924326
|
|
|
NM_001039141.3(TRIOBP):c.1193_1195del (p.Gln398del)
|
rs55745992
|
|
|
NM_001039141.3(TRIOBP):c.6472+19dup
|
rs3833924
|
|
|
NM_001042472.3(ABHD12):c.1029+247_1029+248insC
|
rs3215644
|
|
|
NM_001042472.3(ABHD12):c.191+24G>C
|
rs77202707
|
|
|
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_001048166.1(STIL):c.1452C>G (p.Ser484=)
|
rs10789505
|
|
|
NM_001077365.2(POMT1):c.123-5dup
|
rs148086540
|
|
|
NM_001079802.2(FKTN):c.*42del
|
rs749100291
|
|
|
NM_001079802.2(FKTN):c.-45G>T
|
rs77013649
|
|
|
NM_001079802.2(FKTN):c.1150G>T (p.Ala384Ser)
|
rs1343750016
|
|
|
NM_001079802.2(FKTN):c.18G>C (p.Lys6Asn)
|
rs2132016533
|
|
|
NM_001079802.2(FKTN):c.824A>G (p.Lys275Arg)
|
rs2133099564
|
|
|
NM_001079802.2(FKTN):c.934A>G (p.Ile312Val)
|
rs2133161218
|
|
|
NM_001079802.2(FKTN):c.977A>G (p.Asp326Gly)
|
rs759791267
|
|
|
NM_001079866.2(BCS1L):c.1220del (p.Pro407fs)
|
rs2106333049
|
|
|
NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn)
|
rs58447305
|
|
|
NM_001080414.4(CCDC88C):c.61-85T>C
|
rs1285844
|
|
|
NM_001080476.3(GRXCR1):c.627+8A>C
|
rs10213360
|
|
|
NM_001081.4(CUBN):c.10656C>A (p.Asn3552Lys)
|
rs1801232
|
|
|
NM_001081.4(CUBN):c.1911C>T (p.Leu637=)
|
rs41289311
|
|
|
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_001111.5(ADAR):c.1006G>A (p.Asp336Asn)
|
rs763575197
|
|
|
NM_001111.5(ADAR):c.1103A>T (p.Asn368Ile)
|
rs1553213121
|
|
|
NM_001111.5(ADAR):c.1372G>A (p.Asp458Asn)
|
rs759763367
|
|
|
NM_001111.5(ADAR):c.1402G>T (p.Ala468Ser)
|
rs761708272
|
|
|
NM_001111.5(ADAR):c.1780G>A (p.Glu594Lys)
|
rs1203572202
|
|
|
NM_001111.5(ADAR):c.1891G>A (p.Glu631Lys)
|
rs756241513
|
|
|
NM_001111.5(ADAR):c.1A>G (p.Met1Val)
|
rs1698314927
|
|
|
NM_001111.5(ADAR):c.2224G>A (p.Ala742Thr)
|
rs2101619298
|
|
|
NM_001111.5(ADAR):c.224T>G (p.Phe75Cys)
|
rs886045345
|
|
|
NM_001111.5(ADAR):c.2496+35C>G
|
rs7532276
|
|
|
NM_001111.5(ADAR):c.2565_2568del (p.Asn857fs)
|
rs1180888940
|
|
|
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg)
|
rs398122822
|
|
|
NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter)
|
rs769148365
|
|
|
NM_001111.5(ADAR):c.3301G>A (p.Val1101Ile)
|
|
|
|
NM_001111.5(ADAR):c.3363dup (p.Lys1122Ter)
|
rs1571046959
|
|
|
NM_001111.5(ADAR):c.3499A>C (p.Lys1167Gln)
|
rs1571045177
|
|
|
NM_001111.5(ADAR):c.841A>G (p.Ser281Gly)
|
rs1557887436
|
|
|
NM_001124758.3(SPNS2):c.1443+43A>G
|
rs11658114
|
|
|
NM_001127453.2(GSDME):c.424C>A (p.Pro142Thr)
|
rs754554
|
|
|
NM_001129.5(AEBP1):c.863-37dup
|
rs58863562
|
|
|
NM_001130987.2(DYSF):c.1413C>G (p.Asn471Lys)
|
rs398123766
|
|
|
NM_001130987.2(DYSF):c.2968T>A (p.Tyr990Asn)
|
rs2152814096
|
|
|
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3])
|
rs398123779
|
|
|
NM_001130987.2(DYSF):c.431C>T (p.Pro144Leu)
|
rs139654844
|
|
|
NM_001130987.2(DYSF):c.5591T>A (p.Leu1864Gln)
|
rs768704227
|
|
|
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_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_001160372.4(TRAPPC9):c.731-31_731-11del
|
rs11267571
|
|
|
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.432-1G>C
|
rs10897158
|
|
|
NM_001173990.3:c.432-11_432-10insA
|
|
|
|
NM_001184.4(ATR):c.102A>G (p.Arg34=)
|
rs778499519
|
|
|
NM_001184.4(ATR):c.1142A>T (p.Asp381Val)
|
rs746692662
|
|
|
NM_001184.4(ATR):c.1328G>A (p.Arg443Lys)
|
rs28367453
|
|
|
NM_001184.4(ATR):c.1338A>G (p.Lys446=)
|
rs1269628278
|
|
|
NM_001184.4(ATR):c.1403A>G (p.Gln468Arg)
|
rs2034833475
|
|
|
NM_001184.4(ATR):c.1478T>C (p.Ile493Thr)
|
rs2108482764
|
|
|
NM_001184.4(ATR):c.1589T>C (p.Val530Ala)
|
rs2108480297
|
|
|
NM_001184.4(ATR):c.1611G>C (p.Leu537Phe)
|
rs2108480149
|
|
|
NM_001184.4(ATR):c.1835C>T (p.Thr612Ile)
|
rs2108477446
|
|
|
NM_001184.4(ATR):c.1846A>G (p.Asn616Asp)
|
rs2108477346
|
|
|
NM_001184.4(ATR):c.1848TCT[1] (p.Leu618del)
|
rs757490543
|
|
|
NM_001184.4(ATR):c.1856C>T (p.Thr619Ile)
|
rs2034769700
|
|
|
NM_001184.4(ATR):c.1860A>C (p.Leu620Phe)
|
rs762564926
|
|
|
NM_001184.4(ATR):c.1877A>G (p.Asp626Gly)
|
rs1020231215
|
|
|
NM_001184.4(ATR):c.1885+65ATTT[8]
|
rs56661838
|
|
|
NM_001184.4(ATR):c.1991A>G (p.His664Arg)
|
rs1458351462
|
|
|
NM_001184.4(ATR):c.2094T>C (p.Asp698=)
|
rs2108471856
|
|
|
NM_001184.4(ATR):c.2130A>G (p.Ile710Met)
|
rs2034661720
|
|
|
NM_001184.4(ATR):c.2158G>C (p.Gly720Arg)
|
rs143633875
|
|
|
NM_001184.4(ATR):c.2261C>T (p.Ser754Leu)
|
rs749078940
|
|
|
NM_001184.4(ATR):c.2308C>T (p.Leu770=)
|
rs765405340
|
|
|
NM_001184.4(ATR):c.2320dup (p.Ile774fs)
|
rs757500301
|
|
|
NM_001184.4(ATR):c.2327G>C (p.Ser776Thr)
|
rs979155439
|
|
|
NM_001184.4(ATR):c.2360A>G (p.His787Arg)
|
rs779898609
|
|
|
NM_001184.4(ATR):c.2409A>G (p.Lys803=)
|
rs766396565
|
|
|
NM_001184.4(ATR):c.2419G>A (p.Gly807Arg)
|
rs200582541
|
|
|
NM_001184.4(ATR):c.2487G>A (p.Lys829=)
|
rs1387074605
|
|
|
NM_001184.4(ATR):c.2503T>G (p.Leu835Val)
|
rs377134163
|
|
|
NM_001184.4(ATR):c.2709C>G (p.Val903=)
|
rs2108462397
|
|
|
NM_001184.4(ATR):c.2892G>A (p.Val964=)
|
rs755008980
|
|
|
NM_001184.4(ATR):c.3025G>A (p.Ala1009Thr)
|
rs2034402314
|
|
|
NM_001184.4(ATR):c.3120G>A (p.Leu1040=)
|
rs28910272
|
|
|
NM_001184.4(ATR):c.3171+19A>G
|
rs575077685
|
|
|
NM_001184.4(ATR):c.3193G>A (p.Gly1065Arg)
|
rs1577675053
|
|
|
NM_001184.4(ATR):c.3275A>G (p.Asn1092Ser)
|
rs2034328286
|
|
|
NM_001184.4(ATR):c.3457A>G (p.Asn1153Asp)
|
rs1442649106
|
|
|
NM_001184.4(ATR):c.3497A>C (p.His1166Pro)
|
rs201438783
|
|
|
NM_001184.4(ATR):c.3524T>C (p.Met1175Thr)
|
rs2108438183
|
|
|
NM_001184.4(ATR):c.3559G>T (p.Asp1187Tyr)
|
rs765890919
|
|
|
NM_001184.4(ATR):c.3567T>C (p.Pro1189=)
|
rs149882558
|
|
|
NM_001184.4(ATR):c.3586T>G (p.Trp1196Gly)
|
rs2108433026
|
|
|
NM_001184.4(ATR):c.384T>G (p.Cys128Trp)
|
rs754728006
|
|
|
NM_001184.4(ATR):c.390A>T (p.Leu130Phe)
|
rs2108488701
|
|
|
NM_001184.4(ATR):c.3925G>A (p.Glu1309Lys)
|
rs947429668
|
|
|
NM_001184.4(ATR):c.4007T>A (p.Val1336Glu)
|
rs2033272014
|
|
|
NM_001184.4(ATR):c.4043C>T (p.Ser1348Phe)
|
rs2108399551
|
|
|
NM_001184.4(ATR):c.4057C>A (p.Leu1353Ile)
|
rs766616536
|
|
|
NM_001184.4(ATR):c.4130A>G (p.Gln1377Arg)
|
rs2108399250
|
|
|
NM_001184.4(ATR):c.4153-10del
|
rs112116713
|
|
|
NM_001184.4(ATR):c.4383-19_4383-16del
|
rs768981812
|
|
|
NM_001184.4(ATR):c.4442G>A (p.Ser1481Asn)
|
rs2032818637
|
|
|
NM_001184.4(ATR):c.4562A>C (p.Asp1521Ala)
|
rs2032702060
|
|
|
NM_001184.4(ATR):c.4639G>A (p.Glu1547Lys)
|
rs1386387112
|
|
|
NM_001184.4(ATR):c.4698C>G (p.Thr1566=)
|
rs759372905
|
|
|
NM_001184.4(ATR):c.4703A>T (p.Asp1568Val)
|
rs929755679
|
|
|
NM_001184.4(ATR):c.4706T>A (p.Ile1569Asn)
|
rs2108372168
|
|
|
NM_001184.4(ATR):c.4792G>A (p.Ala1598Thr)
|
rs187734529
|
|
|
NM_001184.4(ATR):c.4792G>T (p.Ala1598Ser)
|
rs187734529
|
|
|
NM_001184.4(ATR):c.4846T>C (p.Ser1616Pro)
|
rs201492267
|
|
|
NM_001184.4(ATR):c.4855T>C (p.Ser1619Pro)
|
rs760429299
|
|
|
NM_001184.4(ATR):c.4897C>A (p.Leu1633Ile)
|
rs4282075
|
|
|
NM_001184.4(ATR):c.492G>T (p.Val164=)
|
rs768453353
|
|
|
NM_001184.4(ATR):c.5078G>A (p.Ser1693Asn)
|
rs1375119564
|
|
|
NM_001184.4(ATR):c.5421A>G (p.Leu1807=)
|
rs773935656
|
|
|
NM_001184.4(ATR):c.5733C>A (p.Asn1911Lys)
|
rs766428193
|
|
|
NM_001184.4(ATR):c.5739-14G>T
|
rs587783335
|
|
|
NM_001184.4(ATR):c.5739-14_5739-9del
|
rs72272981
|
|
|
NM_001184.4(ATR):c.5851C>A (p.Arg1951=)
|
rs758234545
|
|
|
NM_001184.4(ATR):c.5852G>A (p.Arg1951Gln)
|
rs745882886
|
|
|
NM_001184.4(ATR):c.5857G>A (p.Ala1953Thr)
|
rs2031648536
|
|
|
NM_001184.4(ATR):c.590T>C (p.Met197Thr)
|
rs2108488175
|
|
|
NM_001184.4(ATR):c.5947T>C (p.Cys1983Arg)
|
rs2108326114
|
|
|
NM_001184.4(ATR):c.6023G>A (p.Arg2008Gln)
|
rs145569221
|
|
|
NM_001184.4(ATR):c.6376A>G (p.Ile2126Val)
|
rs370244617
|
|
|
NM_001184.4(ATR):c.6438C>T (p.Ile2146=)
|
rs2071206365
|
|
|
NM_001184.4(ATR):c.6635T>C (p.Val2212Ala)
|
rs2108275967
|
|
|
NM_001184.4(ATR):c.6675G>T (p.Leu2225Phe)
|
rs2071168591
|
|
|
NM_001184.4(ATR):c.6813A>G (p.Pro2271=)
|
rs774286189
|
|
|
NM_001184.4(ATR):c.6880G>T (p.Ala2294Ser)
|
rs370379866
|
|
|
NM_001184.4(ATR):c.7179A>G (p.Leu2393=)
|
rs2071030538
|
|
|
NM_001184.4(ATR):c.7250T>C (p.Leu2417Ser)
|
rs2070974907
|
|
|
NM_001184.4(ATR):c.7311T>C (p.His2437=)
|
rs2108261468
|
|
|
NM_001184.4(ATR):c.7356TAG[3] (p.Ser2453dup)
|
rs756975919
|
|
|
NM_001184.4(ATR):c.7399G>A (p.Val2467Ile)
|
rs144887641
|
|
|
NM_001184.4(ATR):c.7426C>A (p.Arg2476Ser)
|
rs376735982
|
|
|
NM_001184.4(ATR):c.7482T>C (p.Asp2494=)
|
rs2108259913
|
|
|
NM_001184.4(ATR):c.7617A>G (p.Thr2539=)
|
rs765583100
|
|
|
NM_001184.4(ATR):c.7662A>G (p.Leu2554=)
|
rs2108249803
|
|
|
NM_001184.4(ATR):c.7732A>T (p.Asn2578Tyr)
|
rs1309520394
|
|
|
NM_001184.4(ATR):c.7780G>C (p.Asp2594His)
|
rs1227410272
|
|
|
NM_001184.4(ATR):c.7791G>A (p.Gln2597=)
|
rs2108242609
|
|
|
NM_001184.4(ATR):c.7863T>C (p.His2621=)
|
rs2108242260
|
|
|
NM_001184.4(ATR):c.847A>C (p.Met283Leu)
|
rs1559998542
|
|
|
NM_001184.4(ATR):c.943C>G (p.Pro315Ala)
|
rs2034917114
|
|
|
NM_001184.4(ATR):c.965T>C (p.Leu322Pro)
|
rs2108487258
|
|
|
NM_001195263.2(PDZD7):c.2319TAGCCGCAGCCG[1] (p.773RS[4])
|
rs762000985
|
|
|
NM_001195263.2(PDZD7):c.2335CGCAGC[4] (p.773RS[7])
|
rs200896335
|
|
|
NM_001195263.2(PDZD7):c.928+20del
|
rs77484072
|
|
|
NM_001267550.2(TTN):c.*99dup
|
rs11424072
|
|
|
NM_001267550.2(TTN):c.100766-10dup
|
rs749872538
|
|
|
NM_001267550.2(TTN):c.100766-11_100766-10del
|
rs749872538
|
|
|
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.11255-17_11255-16del
|
rs72647895
|
|
|
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.14784C>A (p.Leu4928=)
|
rs373875040
|
|
|
NM_001267550.2(TTN):c.15178G>A (p.Val5060Ile)
|
rs72648929
|
|
|
NM_001267550.2(TTN):c.15561G>T (p.Leu5187=)
|
rs779159076
|
|
|
NM_001267550.2(TTN):c.177C>T (p.Ser59=)
|
rs191057824
|
|
|
NM_001267550.2(TTN):c.18075C>T (p.Pro6025=)
|
rs557350005
|
|
|
NM_001267550.2(TTN):c.20142C>T (p.Tyr6714=)
|
rs535793314
|
|
|
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.23853C>A (p.Ala7951=)
|
rs201766927
|
|
|
NM_001267550.2(TTN):c.30512-19dup
|
rs397517532
|
|
|
NM_001267550.2(TTN):c.30683-17dup
|
rs368277751
|
|
|
NM_001267550.2(TTN):c.30683-21_30683-19del
|
rs752002029
|
|
|
NM_001267550.2(TTN):c.33018A>G (p.Thr11006=)
|
rs765492188
|
|
|
NM_001267550.2(TTN):c.34453+14G>A
|
rs397517550
|
|
|
NM_001267550.2(TTN):c.34708+8C>A
|
rs762808097
|
|
|
NM_001267550.2(TTN):c.38708-4T>C
|
rs200819643
|
|
|
NM_001267550.2(TTN):c.38929C>T (p.Pro12977Ser)
|
rs150223722
|
|
|
NM_001267550.2(TTN):c.39212-9C>A
|
rs373056460
|
|
|
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg)
|
rs72650066
|
|
|
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro)
|
rs72647876
|
|
|
NM_001267550.2(TTN):c.43481-16dup
|
rs730880350
|
|
|
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.51991G>C (p.Glu17331Gln)
|
rs547986881
|
|
|
NM_001267550.2(TTN):c.56910C>T (p.Gly18970=)
|
rs148299739
|
|
|
NM_001267550.2(TTN):c.57847+19del
|
rs111496283
|
|
|
NM_001267550.2(TTN):c.57847+7dup
|
rs111496283
|
|
|
NM_001267550.2(TTN):c.5875T>A (p.Phe1959Ile)
|
rs562856820
|
|
|
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.66576C>A (p.Leu22192=)
|
rs187378247
|
|
|
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.8887A>C (p.Thr2963Pro)
|
rs200875815
|
|
|
NM_001267550.2(TTN):c.8902+14_8902+16delinsA
|
rs786200994
|
|
|
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.9472-19del
|
rs201990196
|
|
|
NM_001267550.2(TTN):c.96180T>C (p.Ile32060=)
|
rs572401798
|
|
|
NM_001267550.2(TTN):c.98721C>A (p.Leu32907=)
|
rs375361462
|
|
|
NM_001267550.2(TTN):c.99810C>T (p.Val33270=)
|
rs564536939
|
|
|
NM_001278064.2(GRM1):c.3213T>G (p.Pro1071=)
|
rs1047006
|
|
|
NM_001283009.2(RTEL1):c.1637-50A>C
|
rs2777941
|
|
|
NM_001283009.2(RTEL1):c.2557-89G>C
|
rs2236507
|
|
|
NM_001283009.2(RTEL1):c.2784C>T (p.Phe928=)
|
rs3848672
|
|
|
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.3305-8dup
|
rs5808973
|
|
|
NM_001351132.2(PEX5):c.147+77_147+121del
|
|
|
|
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.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_001376256.1(CRYM):c.864C>G (p.Thr288=)
|
rs14122
|
|
|
NM_001378454.1(ALMS1):c.11700del (p.Lys3900fs)
|
rs1553421626
|
|
|
NM_001378454.1(ALMS1):c.11714_11717del (p.Val3905fs)
|
rs932538480
|
|
|
NM_001378454.1(ALMS1):c.1174C>T (p.Arg392Cys)
|
rs3813227
|
|
|
NM_001378454.1(ALMS1):c.3011C>G (p.Ser1004Ter)
|
rs1359874667
|
|
|
NM_001378454.1(ALMS1):c.36GGA[11] (p.Glu27_Glu28del)
|
rs55889738
|
|
|
NM_001378454.1(ALMS1):c.3838G>A (p.Ala1280Thr)
|
rs767729719
|
|
|
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_001378789.1(CERS3):c.*75C>A
|
rs1023782
|
|
|
NM_001379286.1(ZNF423):c.2535C>T (p.Thr845=)
|
rs77996576
|
|
|
NM_001384140.1(PCDH15):c.1590+20A>G
|
rs7093302
|
|
|
NM_001384140.1(PCDH15):c.1891G>T (p.Val631Phe)
|
rs2133060549
|
|
|
NM_001384140.1(PCDH15):c.1917+13GT[10]
|
rs5785040
|
|
|
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu)
|
rs45483395
|
|
|
NM_001384140.1(PCDH15):c.3035G>C (p.Gly1012Ala)
|
rs2134276764
|
|
|
NM_001384140.1(PCDH15):c.3502-14dup
|
rs5785023
|
|
|
NM_001384140.1(PCDH15):c.3768T>C (p.Pro1256=)
|
rs2133038894
|
|
|
NM_001384140.1(PCDH15):c.3832C>A (p.Gln1278Lys)
|
rs2132762710
|
|
|
NM_001384140.1(PCDH15):c.945G>A (p.Pro315=)
|
rs150450873
|
|
|
NM_001384474.1(LOXHD1):c.1286del (p.Leu429fs)
|
rs2144243196
|
|
|
NM_001384474.1(LOXHD1):c.1666C>G (p.His556Asp)
|
rs2144147870
|
|
|
NM_001384474.1(LOXHD1):c.1894G>T (p.Gly632Cys)
|
rs35088381
|
|
|
NM_001384474.1(LOXHD1):c.4531-120G>A
|
rs11660036
|
|
|
NM_001386140.1(MTTP):c.1233C>T (p.Leu411=)
|
rs1179169124
|
|
|
NM_001386140.1(MTTP):c.1652A>T (p.Asn551Ile)
|
rs2110230166
|
|
|
NM_001386140.1(MTTP):c.2378A>C (p.Asp793Ala)
|
rs780797954
|
|
|
NM_001386140.1(MTTP):c.451G>A (p.Gly151Ser)
|
rs867316992
|
|
|
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.-6-83T>G
|
rs8064532
|
|
|
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_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val)
|
rs145735762
|
|
|
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_002454.3(MTRR):c.1875G>A (p.Val625=)
|
rs12347
|
|
|
NM_002454.3(MTRR):c.904-20dup
|
rs11398509
|
|
|
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_002485.5(NBN):c.-2C>A
|
rs202104448
|
|
|
NM_002485.5(NBN):c.-3C>T
|
rs1276313619
|
|
|
NM_002485.5(NBN):c.1006A>G (p.Thr336Ala)
|
rs1554560506
|
|
|
NM_002485.5(NBN):c.1012C>T (p.Pro338Ser)
|
rs1554560467
|
|
|
NM_002485.5(NBN):c.1024C>T (p.Leu342Phe)
|
rs587782656
|
|
|
NM_002485.5(NBN):c.1042G>A (p.Val348Ile)
|
rs1586065979
|
|
|
NM_002485.5(NBN):c.1043T>C (p.Val348Ala)
|
rs876660929
|
|
|
NM_002485.5(NBN):c.1046A>T (p.Asp349Val)
|
rs876659431
|
|
|
NM_002485.5(NBN):c.105T>G (p.Ile35Met)
|
rs78870221
|
|
|
NM_002485.5(NBN):c.105_135del (p.Ile35fs)
|
rs730881840
|
|
|
NM_002485.5(NBN):c.1060C>G (p.Pro354Ala)
|
rs1064794336
|
|
|
NM_002485.5(NBN):c.1060C>T (p.Pro354Ser)
|
rs1064794336
|
|
|
NM_002485.5(NBN):c.1061C>T (p.Pro354Leu)
|
rs1354459986
|
|
|
NM_002485.5(NBN):c.1063A>T (p.Ser355Cys)
|
rs762376159
|
|
|
NM_002485.5(NBN):c.1073T>G (p.Val358Gly)
|
rs1563538793
|
|
|
NM_002485.5(NBN):c.1078A>C (p.Thr360Pro)
|
rs1307700838
|
|
|
NM_002485.5(NBN):c.1079C>G (p.Thr360Ser)
|
rs879020505
|
|
|
NM_002485.5(NBN):c.1081A>G (p.Thr361Ala)
|
rs1563538728
|
|
|
NM_002485.5(NBN):c.1089C>G (p.Tyr363Ter)
|
rs121908974
|
|
|
NM_002485.5(NBN):c.109A>G (p.Asn37Asp)
|
rs876658411
|
|
|
NM_002485.5(NBN):c.1104_1109del (p.Ser369_Glu370del)
|
rs1425019959
|
|
|
NM_002485.5(NBN):c.1114G>A (p.Ala372Thr)
|
rs1377878017
|
|
|
NM_002485.5(NBN):c.1121C>T (p.Thr374Ile)
|
rs1174990974
|
|
|
NM_002485.5(NBN):c.1124+5A>T
|
rs587782108
|
|
|
NM_002485.5(NBN):c.1124+91C>A
|
rs1805818
|
|
|
NM_002485.5(NBN):c.1125-4A>G
|
rs1554559375
|
|
|
NM_002485.5(NBN):c.1133G>C (p.Ser378Thr)
|
rs864622123
|
|
|
NM_002485.5(NBN):c.1136A>G (p.Glu379Gly)
|
rs1563532732
|
|
|
NM_002485.5(NBN):c.1142del (p.Pro381fs)
|
rs587781969
|
|
|
NM_002485.5(NBN):c.1147G>C (p.Glu383Gln)
|
rs772909239
|
|
|
NM_002485.5(NBN):c.1155dup (p.Val386fs)
|
rs748513310
|
|
|
NM_002485.5(NBN):c.115C>A (p.Gln39Lys)
|
rs377730553
|
|
|
NM_002485.5(NBN):c.115C>G (p.Gln39Glu)
|
rs377730553
|
|
|
NM_002485.5(NBN):c.115del (p.Gln39fs)
|
rs864622511
|
|
|
NM_002485.5(NBN):c.1160C>G (p.Ser387Cys)
|
rs747632184
|
|
|
NM_002485.5(NBN):c.1162A>G (p.Lys388Glu)
|
rs1252203605
|
|
|
NM_002485.5(NBN):c.1171C>T (p.Gln391Ter)
|
rs1554559323
|
|
|
NM_002485.5(NBN):c.1172A>G (p.Gln391Arg)
|
rs201958895
|
|
|
NM_002485.5(NBN):c.1187T>C (p.Leu396Pro)
|
rs182030463
|
|
|
NM_002485.5(NBN):c.1194A>C (p.Gln398His)
|
rs200046373
|
|
|
NM_002485.5(NBN):c.1194A>G (p.Gln398=)
|
rs200046373
|
|
|
NM_002485.5(NBN):c.11T>C (p.Leu4Pro)
|
rs748090667
|
|
|
NM_002485.5(NBN):c.11T>G (p.Leu4Arg)
|
rs748090667
|
|
|
NM_002485.5(NBN):c.1202C>A (p.Pro401His)
|
rs104895033
|
|
|
NM_002485.5(NBN):c.1202C>G (p.Pro401Arg)
|
rs104895033
|
|
|
NM_002485.5(NBN):c.121A>G (p.Ile41Val)
|
rs1563584220
|
|
|
NM_002485.5(NBN):c.1220G>A (p.Cys407Tyr)
|
rs1473253247
|
|
|
NM_002485.5(NBN):c.1228A>G (p.Ser410Gly)
|
rs1185542329
|
|
|
NM_002485.5(NBN):c.1229G>T (p.Ser410Ile)
|
rs982325971
|
|
|
NM_002485.5(NBN):c.1230C>G (p.Ser410Arg)
|
rs878854504
|
|
|
NM_002485.5(NBN):c.1232C>G (p.Ser411Cys)
|
rs551032019
|
|
|
NM_002485.5(NBN):c.1243_1244insTTA (p.Asn414_Ser415insIle)
|
rs587781532
|
|
|
NM_002485.5(NBN):c.1244G>A (p.Ser415Asn)
|
rs764832388
|
|
|
NM_002485.5(NBN):c.1255A>C (p.Asn419His)
|
rs730881849
|
|
|
NM_002485.5(NBN):c.1255A>G (p.Asn419Asp)
|
rs730881849
|
|
|
NM_002485.5(NBN):c.1255_1258del (p.Asn419fs)
|
rs1238152597
|
|
|
NM_002485.5(NBN):c.1268A>G (p.Lys423Arg)
|
rs1444306607
|
|
|
NM_002485.5(NBN):c.1274G>A (p.Arg425Lys)
|
rs1060503478
|
|
|
NM_002485.5(NBN):c.1279C>A (p.Pro427Thr)
|
rs1554559171
|
|
|
NM_002485.5(NBN):c.1282A>G (p.Asn428Asp)
|
rs786202302
|
|
|
NM_002485.5(NBN):c.1283A>T (p.Asn428Ile)
|
rs1406123091
|
|
|
NM_002485.5(NBN):c.1284C>G (p.Asn428Lys)
|
rs1586058745
|
|
|
NM_002485.5(NBN):c.1286A>G (p.Tyr429Cys)
|
rs370121348
|
|
|
NM_002485.5(NBN):c.1289A>G (p.Gln430Arg)
|
rs1563531531
|
|
|
NM_002485.5(NBN):c.1290G>C (p.Gln430His)
|
rs1554559149
|
|
|
NM_002485.5(NBN):c.1295C>T (p.Ser432Leu)
|
rs1258938703
|
|
|
NM_002485.5(NBN):c.1301C>A (p.Thr434Asn)
|
rs757452107
|
|
|
NM_002485.5(NBN):c.1301C>G (p.Thr434Ser)
|
rs757452107
|
|
|
NM_002485.5(NBN):c.1301C>T (p.Thr434Ile)
|
rs757452107
|
|
|
NM_002485.5(NBN):c.1312A>G (p.Ser438Gly)
|
rs1456827107
|
|
|
NM_002485.5(NBN):c.1313G>A (p.Ser438Asn)
|
rs786203131
|
|
|
NM_002485.5(NBN):c.1313G>T (p.Ser438Ile)
|
rs786203131
|
|
|
NM_002485.5(NBN):c.1324A>G (p.Ser442Gly)
|
rs1554559097
|
|
|
NM_002485.5(NBN):c.1331A>C (p.Asp444Ala)
|
rs1237800234
|
|
|
NM_002485.5(NBN):c.1335G>T (p.Arg445Ser)
|
rs1554559085
|
|
|
NM_002485.5(NBN):c.1336G>A (p.Ala446Thr)
|
rs1586058411
|
|
|
NM_002485.5(NBN):c.1336del (p.Ala446fs)
|
rs1554559083
|
|
|
NM_002485.5(NBN):c.1352A>G (p.Gln451Arg)
|
rs1554559068
|
|
|
NM_002485.5(NBN):c.1352_1353delinsCC (p.Gln451Pro)
|
rs1554559065
|
|
|
NM_002485.5(NBN):c.1363A>G (p.Ile455Val)
|
rs1554559041
|
|
|
NM_002485.5(NBN):c.1366del (p.Arg456fs)
|
rs1554559038
|
|
|
NM_002485.5(NBN):c.1368A>C (p.Arg456Ser)
|
rs1554559036
|
|
|
NM_002485.5(NBN):c.1369A>G (p.Asn457Asp)
|
rs1554559034
|
|
|
NM_002485.5(NBN):c.1370A>G (p.Asn457Ser)
|
rs876659312
|
|
|
NM_002485.5(NBN):c.1396dup (p.Arg466fs)
|
rs1349928568
|
|
|
NM_002485.5(NBN):c.1397+1del
|
rs1060503467
|
|
|
NM_002485.5(NBN):c.1397+4T>C
|
rs770699381
|
|
|
NM_002485.5(NBN):c.1397+4T>G
|
rs770699381
|
|
|
NM_002485.5(NBN):c.1398-10T>C
|
rs539960851
|
|
|
NM_002485.5(NBN):c.1399G>T (p.Glu467Ter)
|
rs1554558613
|
|
|
NM_002485.5(NBN):c.13C>G (p.Leu5Val)
|
rs1563588747
|
|
|
NM_002485.5(NBN):c.1403G>A (p.Arg468Lys)
|
rs781213350
|
|
|
NM_002485.5(NBN):c.1403G>C (p.Arg468Thr)
|
rs781213350
|
|
|
NM_002485.5(NBN):c.1405G>A (p.Asp469Asn)
|
rs148205441
|
|
|
NM_002485.5(NBN):c.1406A>G (p.Asp469Gly)
|
rs780365310
|
|
|
NM_002485.5(NBN):c.1409A>G (p.Glu470Gly)
|
rs876660501
|
|
|
NM_002485.5(NBN):c.1410A>G (p.Glu470=)
|
rs1554558592
|
|
|
NM_002485.5(NBN):c.1417C>A (p.Gln473Lys)
|
rs755805461
|
|
|
NM_002485.5(NBN):c.1417C>G (p.Gln473Glu)
|
rs755805461
|
|
|
NM_002485.5(NBN):c.1417C>T (p.Gln473Ter)
|
rs755805461
|
|
|
NM_002485.5(NBN):c.1419_1431dup (p.Cys478fs)
|
rs864622333
|
|
|
NM_002485.5(NBN):c.141_142del (p.Leu48fs)
|
rs750375741
|
|
|
NM_002485.5(NBN):c.1423A>C (p.Met475Leu)
|
rs767106269
|
|
|
NM_002485.5(NBN):c.1425G>C (p.Met475Ile)
|
rs1180796619
|
|
|
NM_002485.5(NBN):c.1429T>C (p.Ser477Pro)
|
rs1586054780
|
|
|
NM_002485.5(NBN):c.1432T>A (p.Cys478Ser)
|
rs1199013619
|
|
|
NM_002485.5(NBN):c.1444A>G (p.Arg482Gly)
|
rs886063168
|
|
|
NM_002485.5(NBN):c.1448T>C (p.Ile483Thr)
|
rs876658347
|
|
|
NM_002485.5(NBN):c.1456T>C (p.Ser486Pro)
|
rs587781380
|
|
|
NM_002485.5(NBN):c.1463C>G (p.Ser488Cys)
|
rs1060503472
|
|
|
NM_002485.5(NBN):c.1469T>C (p.Leu490Ser)
|
rs1586054565
|
|
|
NM_002485.5(NBN):c.1474C>A (p.Gln492Lys)
|
rs587782130
|
|
|
NM_002485.5(NBN):c.1474C>T (p.Gln492Ter)
|
rs587782130
|
|
|
NM_002485.5(NBN):c.1476A>C (p.Gln492His)
|
rs1382919150
|
|
|
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs)
|
rs764884516
|
|
|
NM_002485.5(NBN):c.1495T>C (p.Ser499Pro)
|
rs1554558483
|
|
|
NM_002485.5(NBN):c.1496C>T (p.Ser499Leu)
|
rs772411713
|
|
|
NM_002485.5(NBN):c.1499T>C (p.Leu500Ser)
|
rs1563526901
|
|
|
NM_002485.5(NBN):c.149C>T (p.Ala50Val)
|
rs1554569035
|
|
|
NM_002485.5(NBN):c.1502G>A (p.Trp501Ter)
|
rs1554558472
|
|
|
NM_002485.5(NBN):c.1509T>G (p.Asn503Lys)
|
rs876660751
|
|
|
NM_002485.5(NBN):c.1511A>G (p.Lys504Arg)
|
rs757754183
|
|
|
NM_002485.5(NBN):c.1515del (p.Glu505fs)
|
rs759232053
|
|
|
NM_002485.5(NBN):c.1516C>G (p.Gln506Glu)
|
rs876658535
|
|
|
NM_002485.5(NBN):c.1520A>G (p.His507Arg)
|
rs587782520
|
|
|
NM_002485.5(NBN):c.1521T>A (p.His507Gln)
|
rs1586054212
|
|
|
NM_002485.5(NBN):c.1526C>A (p.Ser509Tyr)
|
rs1554558450
|
|
|
NM_002485.5(NBN):c.1530G>C (p.Glu510Asp)
|
rs1283330641
|
|
|
NM_002485.5(NBN):c.1534G>C (p.Glu512Gln)
|
rs1554558445
|
|
|
NM_002485.5(NBN):c.1546A>G (p.Thr516Ala)
|
rs376653589
|
|
|
NM_002485.5(NBN):c.1551C>A (p.Asn517Lys)
|
rs876658744
|
|
|
NM_002485.5(NBN):c.1558A>G (p.Asn520Asp)
|
rs944499155
|
|
|
NM_002485.5(NBN):c.156_157del (p.Ser53fs)
|
rs767454740
|
|
|
NM_002485.5(NBN):c.1575T>A (p.Asp525Glu)
|
rs587782150
|
|
|
NM_002485.5(NBN):c.1588T>C (p.Ser530Pro)
|
rs1554558401
|
|
|
NM_002485.5(NBN):c.1594G>A (p.Val532Met)
|
rs545435120
|
|
|
NM_002485.5(NBN):c.1594G>T (p.Val532Leu)
|
rs545435120
|
|
|
NM_002485.5(NBN):c.1616C>G (p.Ser539Cys)
|
rs768431216
|
|
|
NM_002485.5(NBN):c.1622C>G (p.Ala541Gly)
|
rs876658501
|
|
|
NM_002485.5(NBN):c.163_171+3del
|
rs1057516772
|
|
|
NM_002485.5(NBN):c.1642A>G (p.Asn548Asp)
|
rs772234785
|
|
|
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs)
|
rs766044684
|
|
|
NM_002485.5(NBN):c.1650A>C (p.Lys550Asn)
|
rs1554558368
|
|
|
NM_002485.5(NBN):c.1651dup (p.Arg551fs)
|
rs766044684
|
|
|
NM_002485.5(NBN):c.1654G>C (p.Glu552Gln)
|
rs1064793213
|
|
|
NM_002485.5(NBN):c.1666G>A (p.Val556Met)
|
rs771567358
|
|
|
NM_002485.5(NBN):c.1672A>C (p.Ile558Leu)
|
rs876659451
|
|
|
NM_002485.5(NBN):c.1672A>G (p.Ile558Val)
|
rs876659451
|
|
|
NM_002485.5(NBN):c.167A>G (p.Asn56Ser)
|
rs1554569009
|
|
|
NM_002485.5(NBN):c.1685T>G (p.Val562Gly)
|
rs1060503455
|
|
|
NM_002485.5(NBN):c.1687T>A (p.Leu563Met)
|
rs1466493008
|
|
|
NM_002485.5(NBN):c.1699T>C (p.Phe567Leu)
|
rs1554558312
|
|
|
NM_002485.5(NBN):c.16C>T (p.Pro6Ser)
|
rs730881859
|
|
|
NM_002485.5(NBN):c.1700T>G (p.Phe567Cys)
|
rs980167139
|
|
|
NM_002485.5(NBN):c.1701C>G (p.Phe567Leu)
|
rs730881853
|
|
|
NM_002485.5(NBN):c.1708A>G (p.Thr570Ala)
|
rs730881854
|
|
|
NM_002485.5(NBN):c.1715C>T (p.Pro572Leu)
|
rs1554558303
|
|
|
NM_002485.5(NBN):c.1720T>G (p.Leu574Val)
|
rs142334798
|
|
|
NM_002485.5(NBN):c.1723G>T (p.Glu575Ter)
|
rs786201745
|
|
|
NM_002485.5(NBN):c.1732G>T (p.Val578Leu)
|
rs1554558284
|
|
|
NM_002485.5(NBN):c.1735A>C (p.Lys579Gln)
|
rs993110145
|
|
|
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter)
|
rs864622143
|
|
|
NM_002485.5(NBN):c.1756G>C (p.Asp586His)
|
rs786202588
|
|
|
NM_002485.5(NBN):c.1757A>G (p.Asp586Gly)
|
rs1810527909
|
|
|
NM_002485.5(NBN):c.1780A>G (p.Arg594Gly)
|
rs1554558241
|
|
|
NM_002485.5(NBN):c.1787A>G (p.Asp596Gly)
|
rs1005715125
|
|
|
NM_002485.5(NBN):c.1787A>T (p.Asp596Val)
|
rs1005715125
|
|
|
NM_002485.5(NBN):c.1789A>T (p.Ile597Leu)
|
rs864622167
|
|
|
NM_002485.5(NBN):c.1791A>G (p.Ile597Met)
|
rs1810523727
|
|
|
NM_002485.5(NBN):c.1796C>G (p.Thr599Arg)
|
rs775848374
|
|
|
NM_002485.5(NBN):c.17C>T (p.Pro6Leu)
|
rs876658432
|
|
|
NM_002485.5(NBN):c.1805C>G (p.Thr602Ser)
|
rs1563524801
|
|
|
NM_002485.5(NBN):c.1805C>T (p.Thr602Ile)
|
rs1563524801
|
|
|
NM_002485.5(NBN):c.181_182del (p.Thr60_Asp61insTer)
|
rs768378152
|
|
|
NM_002485.5(NBN):c.1825C>A (p.Pro609Thr)
|
rs372012641
|
|
|
NM_002485.5(NBN):c.182A>G (p.Asp61Gly)
|
rs1460282206
|
|
|
NM_002485.5(NBN):c.1837A>G (p.Lys613Glu)
|
rs1554558199
|
|
|
NM_002485.5(NBN):c.1842A>G (p.Ile614Met)
|
rs770345026
|
|
|
NM_002485.5(NBN):c.1845+10A>G
|
rs570914185
|
|
|
NM_002485.5(NBN):c.1845+2dup
|
rs1586052628
|
|
|
NM_002485.5(NBN):c.1848del (p.Glu617fs)
|
rs1057516611
|
|
|
NM_002485.5(NBN):c.1854_1857del (p.Asn618fs)
|
rs1060503466
|
|
|
NM_002485.5(NBN):c.1870C>T (p.Arg624Cys)
|
rs962092255
|
|
|
NM_002485.5(NBN):c.1871G>T (p.Arg624Leu)
|
rs587782297
|
|
|
NM_002485.5(NBN):c.1880A>G (p.Lys627Arg)
|
rs762174459
|
|
|
NM_002485.5(NBN):c.1882_1885del (p.Glu628fs)
|
rs1178384498
|
|
|
NM_002485.5(NBN):c.1885G>T (p.Asp629Tyr)
|
rs745559078
|
|
|
NM_002485.5(NBN):c.188T>A (p.Ile63Asn)
|
rs961554359
|
|
|
NM_002485.5(NBN):c.188del (p.Ile63fs)
|
rs876659592
|
|
|
NM_002485.5(NBN):c.1891C>G (p.Leu631Val)
|
rs1064793477
|
|
|
NM_002485.5(NBN):c.1894T>C (p.Trp632Arg)
|
rs1586043635
|
|
|
NM_002485.5(NBN):c.1898C>T (p.Ser633Leu)
|
rs1554556897
|
|
|
NM_002485.5(NBN):c.189C>T (p.Ile63=)
|
rs1554568383
|
|
|
NM_002485.5(NBN):c.1909_1910delinsTA (p.Ile637Ter)
|
rs1563516254
|
|
|
NM_002485.5(NBN):c.190C>T (p.Pro64Ser)
|
rs267602038
|
|
|
NM_002485.5(NBN):c.1911_1914+1del
|
rs1554556880
|
|
|
NM_002485.5(NBN):c.1913C>A (p.Ser638Tyr)
|
rs756036331
|
|
|
NM_002485.5(NBN):c.1914+2_1914+3del
|
rs1586043528
|
|
|
NM_002485.5(NBN):c.1914+3G>A
|
rs1554556878
|
|
|
NM_002485.5(NBN):c.191C>T (p.Pro64Leu)
|
rs1563581492
|
|
|
NM_002485.5(NBN):c.1922A>G (p.Asp641Gly)
|
rs921235584
|
|
|
NM_002485.5(NBN):c.1930C>A (p.Gln644Lys)
|
rs764050423
|
|
|
NM_002485.5(NBN):c.1933G>A (p.Asp645Asn)
|
rs1064796613
|
|
|
NM_002485.5(NBN):c.1933G>T (p.Asp645Tyr)
|
rs1064796613
|
|
|
NM_002485.5(NBN):c.1941T>A (p.Ser647Arg)
|
rs1477953712
|
|
|
NM_002485.5(NBN):c.1946T>C (p.Met649Thr)
|
rs1554556582
|
|
|
NM_002485.5(NBN):c.1947G>A (p.Met649Ile)
|
rs1554556579
|
|
|
NM_002485.5(NBN):c.1974del (p.Glu658fs)
|
rs1057516668
|
|
|
NM_002485.5(NBN):c.1975T>G (p.Phe659Val)
|
rs1060503469
|
|
|
NM_002485.5(NBN):c.1979G>A (p.Arg660Lys)
|
rs201781110
|
|
|
NM_002485.5(NBN):c.1993A>G (p.Lys665Glu)
|
rs1554556544
|
|
|
NM_002485.5(NBN):c.199A>G (p.Thr67Ala)
|
rs876660922
|
|
|
NM_002485.5(NBN):c.2003C>T (p.Thr668Ile)
|
rs876658336
|
|
|
NM_002485.5(NBN):c.2022C>T (p.Gly674=)
|
rs1554556503
|
|
|
NM_002485.5(NBN):c.2027A>G (p.Asn676Ser)
|
rs1404296922
|
|
|
NM_002485.5(NBN):c.202T>G (p.Leu68Val)
|
rs1200599843
|
|
|
NM_002485.5(NBN):c.2039G>T (p.Gly680Val)
|
rs1425101720
|
|
|
NM_002485.5(NBN):c.2051A>G (p.Asn684Ser)
|
rs1554556477
|
|
|
NM_002485.5(NBN):c.2054T>C (p.Phe685Ser)
|
rs1181142133
|
|
|
NM_002485.5(NBN):c.2068A>C (p.Lys690Gln)
|
rs587780092
|
|
|
NM_002485.5(NBN):c.2070+1G>A
|
rs1554556454
|
|
|
NM_002485.5(NBN):c.2070+5G>A
|
rs1323512485
|
|
|
NM_002485.5(NBN):c.2070+6T>C
|
rs1810172843
|
|
|
NM_002485.5(NBN):c.2071-4A>T
|
rs746994234
|
|
|
NM_002485.5(NBN):c.2071-6C>A
|
rs768670249
|
|
|
NM_002485.5(NBN):c.2071G>T (p.Val691Phe)
|
rs772059959
|
|
|
NM_002485.5(NBN):c.2075C>T (p.Thr692Ile)
|
rs1060503474
|
|
|
NM_002485.5(NBN):c.2081C>G (p.Pro694Arg)
|
rs746090959
|
|
|
NM_002485.5(NBN):c.2083G>A (p.Gly695Arg)
|
rs1554555835
|
|
|
NM_002485.5(NBN):c.2084G>A (p.Gly695Glu)
|
rs1554555834
|
|
|
NM_002485.5(NBN):c.2086G>T (p.Ala696Ser)
|
rs749276965
|
|
|
NM_002485.5(NBN):c.2087C>T (p.Ala696Val)
|
rs1462278909
|
|
|
NM_002485.5(NBN):c.2096T>C (p.Leu699Pro)
|
rs1810039016
|
|
|
NM_002485.5(NBN):c.2098C>A (p.Pro700Thr)
|
rs1060503461
|
|
|
NM_002485.5(NBN):c.210T>G (p.Asp70Glu)
|
rs1554568357
|
|
|
NM_002485.5(NBN):c.210_211del (p.Asp70fs)
|
rs786202494
|
|
|
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs)
|
rs762664474
|
|
|
NM_002485.5(NBN):c.2120_2128del (p.Asp707_Ile709del)
|
rs1563508381
|
|
|
NM_002485.5(NBN):c.2128G>C (p.Ala710Pro)
|
rs1554555808
|
|
|
NM_002485.5(NBN):c.212_215del (p.Asn71fs)
|
rs1064795634
|
|
|
NM_002485.5(NBN):c.2131C>T (p.His711Tyr)
|
rs780333168
|
|
|
NM_002485.5(NBN):c.2138C>G (p.Ala713Gly)
|
rs986903713
|
|
|
NM_002485.5(NBN):c.2140C>G (p.Arg714Gly)
|
rs730881864
|
|
|
NM_002485.5(NBN):c.2150C>T (p.Thr717Ile)
|
rs1554555764
|
|
|
NM_002485.5(NBN):c.2155_2157dup (p.Leu719dup)
|
rs864622241
|
|
|
NM_002485.5(NBN):c.2158G>A (p.Glu720Lys)
|
rs876660294
|
|
|
NM_002485.5(NBN):c.215C>T (p.Ser72Phe)
|
rs1060503484
|
|
|
NM_002485.5(NBN):c.2161G>T (p.Glu721Ter)
|
rs1064795816
|
|
|
NM_002485.5(NBN):c.2164T>G (p.Trp722Gly)
|
rs1554555748
|
|
|
NM_002485.5(NBN):c.2174A>C (p.Gln725Pro)
|
rs878854510
|
|
|
NM_002485.5(NBN):c.2185-7T>G
|
rs1563497932
|
|
|
NM_002485.5(NBN):c.2191A>T (p.Asn731Tyr)
|
rs369649307
|
|
|
NM_002485.5(NBN):c.2198A>G (p.His733Arg)
|
rs998714046
|
|
|
NM_002485.5(NBN):c.2206G>C (p.Glu736Gln)
|
rs756831345
|
|
|
NM_002485.5(NBN):c.2206G>T (p.Glu736Ter)
|
rs756831345
|
|
|
NM_002485.5(NBN):c.2206del (p.Glu736fs)
|
rs1809724889
|
|
|
NM_002485.5(NBN):c.220T>C (p.Tyr74His)
|
rs587780094
|
|
|
NM_002485.5(NBN):c.2210A>T (p.Glu737Val)
|
rs1554554247
|
|
|
NM_002485.5(NBN):c.2211G>T (p.Glu737Asp)
|
rs753596803
|
|
|
NM_002485.5(NBN):c.2213C>T (p.Ser738Phe)
|
rs876659097
|
|
|
NM_002485.5(NBN):c.2219C>T (p.Ala740Val)
|
rs1554554240
|
|
|
NM_002485.5(NBN):c.221A>G (p.Tyr74Cys)
|
rs1060503471
|
|
|
NM_002485.5(NBN):c.2224G>T (p.Asp742Tyr)
|
rs746479577
|
|
|
NM_002485.5(NBN):c.2226T>G (p.Asp742Glu)
|
rs767523514
|
|
|
NM_002485.5(NBN):c.2227_2228del (p.Leu743fs)
|
rs876659551
|
|
|
NM_002485.5(NBN):c.2232del (p.Phe744fs)
|
rs1554554233
|
|
|
NM_002485.5(NBN):c.2235-3C>T
|
rs1554553897
|
|
|
NM_002485.5(NBN):c.2238C>A (p.Tyr746Ter)
|
rs751570713
|
|
|
NM_002485.5(NBN):c.2240A>G (p.Asn747Ser)
|
rs766237464
|
|
|
NM_002485.5(NBN):c.2246A>T (p.Tyr749Phe)
|
rs864622446
|
|
|
NM_002485.5(NBN):c.227C>T (p.Thr76Ile)
|
rs587781412
|
|
|
NM_002485.5(NBN):c.231T>A (p.Phe77Leu)
|
rs1554568336
|
|
|
NM_002485.5(NBN):c.235A>C (p.Asn79His)
|
rs786202749
|
|
|
NM_002485.5(NBN):c.235A>G (p.Asn79Asp)
|
rs786202749
|
|
|
NM_002485.5(NBN):c.23C>G (p.Ala8Gly)
|
rs1060503459
|
|
|
NM_002485.5(NBN):c.241G>C (p.Glu81Gln)
|
rs1064795037
|
|
|
NM_002485.5(NBN):c.247A>G (p.Met83Val)
|
rs955258267
|
|
|
NM_002485.5(NBN):c.247A>T (p.Met83Leu)
|
rs955258267
|
|
|
NM_002485.5(NBN):c.248T>A (p.Met83Lys)
|
rs940160589
|
|
|
NM_002485.5(NBN):c.249G>A (p.Met83Ile)
|
rs1438838735
|
|
|
NM_002485.5(NBN):c.250C>A (p.Gln84Lys)
|
rs1586108714
|
|
|
NM_002485.5(NBN):c.260T>C (p.Phe87Ser)
|
rs786203573
|
|
|
NM_002485.5(NBN):c.266G>A (p.Arg89Gln)
|
rs747315554
|
|
|
NM_002485.5(NBN):c.272del (p.Thr90_Leu91insTer)
|
rs1586108633
|
|
|
NM_002485.5(NBN):c.27C>T (p.Gly9=)
|
rs1554569662
|
|
|
NM_002485.5(NBN):c.289A>G (p.Ile97Val)
|
rs730881855
|
|
|
NM_002485.5(NBN):c.28C>A (p.Pro10Thr)
|
rs758228844
|
|
|
NM_002485.5(NBN):c.2T>C (p.Met1Thr)
|
rs746422391
|
|
|
NM_002485.5(NBN):c.304T>C (p.Phe102Leu)
|
rs1554568285
|
|
|
NM_002485.5(NBN):c.306del (p.Phe102fs)
|
rs587781305
|
|
|
NM_002485.5(NBN):c.308G>T (p.Gly103Val)
|
rs1554568272
|
|
|
NM_002485.5(NBN):c.310A>G (p.Ser104Gly)
|
rs876658400
|
|
|
NM_002485.5(NBN):c.315A>G (p.Lys105=)
|
rs13312858
|
|
|
NM_002485.5(NBN):c.317dup (p.Arg107fs)
|
rs745355767
|
|
|
NM_002485.5(NBN):c.320G>A (p.Arg107Lys)
|
rs1345924774
|
|
|
NM_002485.5(NBN):c.332A>C (p.Glu111Ala)
|
rs876659320
|
|
|
NM_002485.5(NBN):c.335C>G (p.Pro112Arg)
|
rs759723870
|
|
|
NM_002485.5(NBN):c.340G>A (p.Val114Ile)
|
rs771034958
|
|
|
NM_002485.5(NBN):c.340G>T (p.Val114Phe)
|
rs771034958
|
|
|
NM_002485.5(NBN):c.343G>T (p.Ala115Ser)
|
rs876658434
|
|
|
NM_002485.5(NBN):c.34G>A (p.Gly12Arg)
|
rs878854511
|
|
|
NM_002485.5(NBN):c.356G>A (p.Cys119Tyr)
|
rs749272832
|
|
|
NM_002485.5(NBN):c.356G>C (p.Cys119Ser)
|
rs749272832
|
|
|
NM_002485.5(NBN):c.356G>T (p.Cys119Phe)
|
rs749272832
|
|
|
NM_002485.5(NBN):c.35G>A (p.Gly12Glu)
|
rs730881860
|
|
|
NM_002485.5(NBN):c.35G>C (p.Gly12Ala)
|
rs730881860
|
|
|
NM_002485.5(NBN):c.367T>G (p.Ser123Ala)
|
rs786203615
|
|
|
NM_002485.5(NBN):c.36A>C (p.Gly12=)
|
rs1554569658
|
|
|
NM_002485.5(NBN):c.37+2dup
|
rs876658183
|
|
|
NM_002485.5(NBN):c.37+6G>C
|
rs540868733
|
|
|
NM_002485.5(NBN):c.37+6G>T
|
rs540868733
|
|
|
NM_002485.5(NBN):c.37+8C>T
|
rs1554569655
|
|
|
NM_002485.5(NBN):c.373A>C (p.Lys125Gln)
|
rs1563579253
|
|
|
NM_002485.5(NBN):c.376A>T (p.Thr126Ser)
|
rs1484120047
|
|
|
NM_002485.5(NBN):c.38-2A>G
|
rs771475965
|
|
|
NM_002485.5(NBN):c.38-3C>G
|
rs876661099
|
|
|
NM_002485.5(NBN):c.388C>G (p.Gln130Glu)
|
rs1586107038
|
|
|
NM_002485.5(NBN):c.392C>G (p.Ala131Gly)
|
rs1469136096
|
|
|
NM_002485.5(NBN):c.396A>G (p.Ile132Met)
|
rs1060503462
|
|
|
NM_002485.5(NBN):c.3G>A (p.Met1Ile)
|
rs1554569682
|
|
|
NM_002485.5(NBN):c.401A>G (p.Gln134Arg)
|
rs1586106962
|
|
|
NM_002485.5(NBN):c.403C>G (p.Leu135Val)
|
rs1409617560
|
|
|
NM_002485.5(NBN):c.406G>A (p.Gly136Arg)
|
rs1554567936
|
|
|
NM_002485.5(NBN):c.40G>A (p.Glu14Lys)
|
rs745439506
|
|
|
NM_002485.5(NBN):c.431C>G (p.Thr144Arg)
|
rs1554567906
|
|
|
NM_002485.5(NBN):c.431C>T (p.Thr144Ile)
|
rs1554567906
|
|
|
NM_002485.5(NBN):c.442A>G (p.Thr148Ala)
|
rs1060503479
|
|
|
NM_002485.5(NBN):c.445del (p.His149fs)
|
rs1554567892
|
|
|
NM_002485.5(NBN):c.451G>T (p.Val151Phe)
|
rs587781549
|
|
|
NM_002485.5(NBN):c.454A>G (p.Met152Val)
|
rs1554567872
|
|
|
NM_002485.5(NBN):c.458T>C (p.Val153Ala)
|
rs1554567865
|
|
|
NM_002485.5(NBN):c.480+3A>G
|
rs756817252
|
|
|
NM_002485.5(NBN):c.480+5G>A
|
rs753578226
|
|
|
NM_002485.5(NBN):c.480A>G (p.Lys160=)
|
rs1554567842
|
|
|
NM_002485.5(NBN):c.486A>G (p.Ile162Met)
|
rs1554566760
|
|
|
NM_002485.5(NBN):c.503G>A (p.Gly168Glu)
|
rs1554566728
|
|
|
NM_002485.5(NBN):c.511A>C (p.Ile171Leu)
|
rs61754966
|
|
|
NM_002485.5(NBN):c.515T>C (p.Val172Ala)
|
rs1554566701
|
|
|
NM_002485.5(NBN):c.517A>G (p.Lys173Glu)
|
rs1563574056
|
|
|
NM_002485.5(NBN):c.523G>C (p.Glu175Gln)
|
rs730881861
|
|
|
NM_002485.5(NBN):c.527_538del (p.Tyr176_Glu179del)
|
rs1811866878
|
|
|
NM_002485.5(NBN):c.530T>C (p.Phe177Ser)
|
rs1064796090
|
|
|
NM_002485.5(NBN):c.535G>A (p.Glu179Lys)
|
rs1293382034
|
|
|
NM_002485.5(NBN):c.535_537delinsT (p.Glu179fs)
|
rs1554566678
|
|
|
NM_002485.5(NBN):c.536A>T (p.Glu179Val)
|
rs864622578
|
|
|
NM_002485.5(NBN):c.537A>T (p.Glu179Asp)
|
rs1554566673
|
|
|
NM_002485.5(NBN):c.550G>T (p.Val184Phe)
|
rs1554566641
|
|
|
NM_002485.5(NBN):c.55_56del (p.Leu19fs)
|
rs876659305
|
|
|
NM_002485.5(NBN):c.565C>G (p.Gln189Glu)
|
rs1198614767
|
|
|
NM_002485.5(NBN):c.572C>T (p.Pro191Leu)
|
rs876661071
|
|
|
NM_002485.5(NBN):c.578T>C (p.Ile193Thr)
|
rs1586101162
|
|
|
NM_002485.5(NBN):c.584+2T>C
|
rs1586101154
|
|
|
NM_002485.5(NBN):c.584+5A>G
|
rs1309889719
|
|
|
NM_002485.5(NBN):c.584+6T>C
|
rs1554566602
|
|
|
NM_002485.5(NBN):c.584G>A (p.Ser195Asn)
|
rs1811862674
|
|
|
NM_002485.5(NBN):c.585-3C>T
|
rs779430868
|
|
|
NM_002485.5(NBN):c.589dup (p.Tyr197fs)
|
rs1586088924
|
|
|
NM_002485.5(NBN):c.590A>G (p.Tyr197Cys)
|
rs1563562194
|
|
|
NM_002485.5(NBN):c.591_603delinsTTG (p.Pro198fs)
|
rs1554564297
|
|
|
NM_002485.5(NBN):c.592C>T (p.Pro198Ser)
|
rs1554564306
|
|
|
NM_002485.5(NBN):c.593C>T (p.Pro198Leu)
|
rs951997505
|
|
|
NM_002485.5(NBN):c.59C>T (p.Thr20Ile)
|
rs1563584711
|
|
|
NM_002485.5(NBN):c.602A>G (p.Asp201Gly)
|
rs587780098
|
|
|
NM_002485.5(NBN):c.602A>T (p.Asp201Val)
|
rs587780098
|
|
|
NM_002485.5(NBN):c.607C>A (p.Pro203Thr)
|
rs1554564291
|
|
|
NM_002485.5(NBN):c.611C>G (p.Ser204Cys)
|
rs876659478
|
|
|
NM_002485.5(NBN):c.614T>C (p.Ile205Thr)
|
rs786203215
|
|
|
NM_002485.5(NBN):c.640G>C (p.Gly214Arg)
|
rs1554564269
|
|
|
NM_002485.5(NBN):c.653G>T (p.Arg218Ile)
|
rs786202250
|
|
|
NM_002485.5(NBN):c.655A>C (p.Lys219Gln)
|
rs730881846
|
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
|
NM_002485.5(NBN):c.662T>C (p.Ile221Thr)
|
rs1187082186
|
|
|
NM_002485.5(NBN):c.676del (p.Thr226fs)
|
rs1563561558
|
|
|
NM_002485.5(NBN):c.677C>T (p.Thr226Ile)
|
rs1554564219
|
|
|
NM_002485.5(NBN):c.680T>C (p.Phe227Ser)
|
rs749025721
|
|
|
NM_002485.5(NBN):c.680T>G (p.Phe227Cys)
|
rs749025721
|
|
|
NM_002485.5(NBN):c.682A>G (p.Ile228Val)
|
rs1204337347
|
|
|
NM_002485.5(NBN):c.684A>G (p.Ile228Met)
|
rs1064793416
|
|
|
NM_002485.5(NBN):c.687T>G (p.Phe229Leu)
|
rs876660152
|
|
|
NM_002485.5(NBN):c.698_701del (p.Lys233fs)
|
rs587780100
|
|
|
NM_002485.5(NBN):c.702+8T>C
|
rs1563561325
|
|
|
NM_002485.5(NBN):c.703-3T>C
|
rs876659566
|
|
|
NM_002485.5(NBN):c.703C>G (p.His235Asp)
|
rs1554564044
|
|
|
NM_002485.5(NBN):c.704A>G (p.His235Arg)
|
rs769519885
|
|
|
NM_002485.5(NBN):c.706A>G (p.Lys236Glu)
|
rs1060503482
|
|
|
NM_002485.5(NBN):c.715A>C (p.Ser239Arg)
|
rs587781868
|
|
|
NM_002485.5(NBN):c.724G>A (p.Val242Ile)
|
rs1434146100
|
|
|
NM_002485.5(NBN):c.727G>C (p.Val243Leu)
|
rs786203253
|
|
|
NM_002485.5(NBN):c.737G>A (p.Gly246Asp)
|
rs1554564023
|
|
|
NM_002485.5(NBN):c.737del (p.Gly246fs)
|
rs1811464751
|
|
|
NM_002485.5(NBN):c.73G>T (p.Val25Phe)
|
rs587781748
|
|
|
NM_002485.5(NBN):c.741_742dup (p.Glu248fs)
|
rs864309670
|
|
|
NM_002485.5(NBN):c.754A>G (p.Ile252Val)
|
rs587782746
|
|
|
NM_002485.5(NBN):c.758C>T (p.Thr253Ile)
|
rs61754967
|
|
|
NM_002485.5(NBN):c.75dup (p.Val26fs)
|
rs1199711768
|
|
|
NM_002485.5(NBN):c.765G>C (p.Glu255Asp)
|
rs2129830286
|
|
|
NM_002485.5(NBN):c.767A>G (p.Asn256Ser)
|
rs1554563994
|
|
|
NM_002485.5(NBN):c.779A>C (p.His260Pro)
|
rs1328090653
|
|
|
NM_002485.5(NBN):c.786C>G (p.Phe262Leu)
|
rs372159380
|
|
|
NM_002485.5(NBN):c.787T>A (p.Phe263Ile)
|
rs1554563966
|
|
|
NM_002485.5(NBN):c.796C>G (p.Pro266Ala)
|
rs762956906
|
|
|
NM_002485.5(NBN):c.800dup (p.Thr268fs)
|
rs1554563955
|
|
|
NM_002485.5(NBN):c.808_809del (p.Val270fs)
|
rs786202490
|
|
|
NM_002485.5(NBN):c.811G>A (p.Val271Ile)
|
rs876659388
|
|
|
NM_002485.5(NBN):c.811G>T (p.Val271Phe)
|
rs876659388
|
|
|
NM_002485.5(NBN):c.817dup (p.Thr273fs)
|
rs730881839
|
|
|
NM_002485.5(NBN):c.818C>T (p.Thr273Ile)
|
rs1554563912
|
|
|
NM_002485.5(NBN):c.829A>G (p.Asn277Asp)
|
rs1563559349
|
|
|
NM_002485.5(NBN):c.82A>G (p.Arg28Gly)
|
rs1563584545
|
|
|
NM_002485.5(NBN):c.832T>G (p.Ser278Ala)
|
rs1225178489
|
|
|
NM_002485.5(NBN):c.836A>C (p.Gln279Pro)
|
rs864622116
|
|
|
NM_002485.5(NBN):c.836A>G (p.Gln279Arg)
|
rs864622116
|
|
|
NM_002485.5(NBN):c.83_89del (p.Arg28fs)
|
rs1554569106
|
|
|
NM_002485.5(NBN):c.854G>C (p.Cys285Ser)
|
rs863224715
|
|
|
NM_002485.5(NBN):c.866G>T (p.Trp289Leu)
|
rs876660117
|
|
|
NM_002485.5(NBN):c.86A>G (p.Lys29Arg)
|
rs1554569112
|
|
|
NM_002485.5(NBN):c.872A>G (p.Gln291Arg)
|
rs587778547
|
|
|
NM_002485.5(NBN):c.872dup (p.Ser292fs)
|
rs1563559078
|
|
|
NM_002485.5(NBN):c.874T>C (p.Ser292Pro)
|
rs876660700
|
|
|
NM_002485.5(NBN):c.879A>G (p.Ile293Met)
|
rs1811450612
|
|
|
NM_002485.5(NBN):c.880A>T (p.Met294Leu)
|
rs746381477
|
|
|
NM_002485.5(NBN):c.884A>C (p.Asp295Ala)
|
rs1208423434
|
|
|
NM_002485.5(NBN):c.88_89del (p.Asn30fs)
|
rs587781718
|
|
|
NM_002485.5(NBN):c.899A>G (p.Gln300Arg)
|
rs758070132
|
|
|
NM_002485.5(NBN):c.911C>G (p.Pro304Arg)
|
rs536965870
|
|
|
NM_002485.5(NBN):c.914T>C (p.Ile305Thr)
|
rs1586076225
|
|
|
NM_002485.5(NBN):c.917del (p.Pro306fs)
|
rs1554562185
|
|
|
NM_002485.5(NBN):c.91T>C (p.Cys31Arg)
|
rs876658553
|
|
|
NM_002485.5(NBN):c.923C>G (p.Ala308Gly)
|
rs1554562176
|
|
|
NM_002485.5(NBN):c.925G>A (p.Glu309Lys)
|
rs587780101
|
|
|
NM_002485.5(NBN):c.932G>A (p.Gly311Glu)
|
rs1563548856
|
|
|
NM_002485.5(NBN):c.932G>T (p.Gly311Val)
|
rs1563548856
|
|
|
NM_002485.5(NBN):c.935T>A (p.Leu312Ter)
|
rs371480039
|
|
|
NM_002485.5(NBN):c.936G>C (p.Leu312Phe)
|
rs148517156
|
|
|
NM_002485.5(NBN):c.93_94del (p.Ala32fs)
|
rs864622253
|
|
|
NM_002485.5(NBN):c.949A>T (p.Met317Leu)
|
rs587782502
|
|
|
NM_002485.5(NBN):c.950T>C (p.Met317Thr)
|
rs1586075983
|
|
|
NM_002485.5(NBN):c.953C>T (p.Thr318Ile)
|
rs1811146292
|
|
|
NM_002485.5(NBN):c.955A>G (p.Thr319Ala)
|
rs876659969
|
|
|
NM_002485.5(NBN):c.958A>G (p.Lys320Glu)
|
rs1563548624
|
|
|
NM_002485.5(NBN):c.960G>T (p.Lys320Asn)
|
rs1554562125
|
|
|
NM_002485.5(NBN):c.968G>A (p.Cys323Tyr)
|
rs730881848
|
|
|
NM_002485.5(NBN):c.974C>T (p.Pro325Leu)
|
rs1586075820
|
|
|
NM_002485.5(NBN):c.974del (p.Pro325fs)
|
rs1554562110
|
|
|
NM_002485.5(NBN):c.976C>G (p.Gln326Glu)
|
rs121908973
|
|
|
NM_002485.5(NBN):c.976C>T (p.Gln326Ter)
|
rs121908973
|
|
|
NM_002485.5(NBN):c.97A>G (p.Ile33Val)
|
rs1563584435
|
|
|
NM_002485.5(NBN):c.983A>G (p.His328Arg)
|
rs1554562099
|
|
|
NM_002485.5(NBN):c.992C>G (p.Thr331Arg)
|
rs587782905
|
|
|
NM_002485.5(NBN):c.993A>G (p.Thr331=)
|
rs876659523
|
|
|
NM_002485.5(NBN):c.995-2A>G
|
rs876659521
|
|
|
NM_002693.3:c.2734+39_2734+40insAGGT
|
rs2152061162
|
|
|
NM_002800.5(PSMB9):c.179G>A (p.Arg60His)
|
rs17587
|
|
|
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_003104.6(SORD):c.266-35C>T
|
rs2854446
|
|
|
NM_003383.5(VLDLR):c.-42GGC[9]
|
rs71329437
|
|
|
NM_003630.3(PEX3):c.206-14del
|
rs397705490
|
|
|
NM_003754.3(EIF3F):c.*24C>T
|
rs15879
|
|
|
NM_004004.6(GJB2):c.349G>T (p.Asp117Tyr)
|
rs2137307822
|
|
|
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)
|
rs80338947
|
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
|
NM_004100.5(EYA4):c.1154C>A (p.Ser385Ter)
|
rs2128711268
|
|
|
NM_004230.4(S1PR2):c.919A>C (p.Arg307=)
|
rs2116942
|
|
|
NM_004260.4(RECQL4):c.2296del (p.Arg766fs)
|
rs1827625671
|
|
|
NM_004525.3(LRP2):c.11498-13del
|
rs143342962
|
|
|
NM_004525.3(LRP2):c.11568G>A (p.Pro3856=)
|
rs745949029
|
|
|
NM_004525.3(LRP2):c.12125G>A (p.Arg4042His)
|
rs199874294
|
|
|
NM_004525.3(LRP2):c.169G>T (p.Ala57Ser)
|
rs147295930
|
|
|
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.3932G>A (p.Arg1311His)
|
rs140748929
|
|
|
NM_004525.3(LRP2):c.402C>A (p.Pro134=)
|
rs34104660
|
|
|
NM_004525.3(LRP2):c.428-8del
|
rs370823033
|
|
|
NM_004525.3(LRP2):c.428-9_428-8del
|
rs370823033
|
|
|
NM_004525.3(LRP2):c.4766G>A (p.Arg1589His)
|
rs587780385
|
|
|
NM_004525.3(LRP2):c.5648+7A>C
|
rs775694684
|
|
|
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_004614.5(TK2):c.-30C>G
|
rs3743715
|
|
|
NM_004618.5(TOP3A):c.1468-11G>T
|
rs3817992
|
|
|
NM_004700.4(KCNQ4):c.1267A>C (p.Ser423Arg)
|
rs368294870
|
|
|
NM_004700.4(KCNQ4):c.1267A>G (p.Ser423Gly)
|
rs368294870
|
|
|
NM_004700.4(KCNQ4):c.1438C>T (p.Gln480Ter)
|
rs1648636515
|
|
|
NM_004700.4(KCNQ4):c.242GCC[3] (p.Arg82dup)
|
rs769859021
|
|
|
NM_004700.4(KCNQ4):c.485G>A (p.Gly162Glu)
|
|
|
|
NM_004700.4(KCNQ4):c.677T>G (p.Leu226Arg)
|
|
|
|
NM_004700.4(KCNQ4):c.829G>A (p.Gly277Arg)
|
rs727504459
|
|
|
NM_004700.4(KCNQ4):c.842T>C (p.Leu281Ser)
|
rs80358278
|
|
|
NM_004836.7(EIF2AK3):c.40CTG[7] (p.Leu21del)
|
rs1805190
|
|
|
NM_004937.3(CTNS):c.782C>G (p.Thr261Arg)
|
rs370257007
|
|
|
NM_005422.4(TECTA):c.5586+40C>G
|
rs2186747
|
|
|
NM_005529.7(HSPG2):c.11187G>T (p.Val3729=)
|
rs2229487
|
|
|
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_005645.4(TAF13):c.-2G>A
|
|
|
|
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_006012.4(CLPP):c.199-31dup
|
rs57445020
|
|
|
NM_006019.4(TCIRG1):c.384C>T (p.His128=)
|
rs3808973
|
|
|
NM_006208.3(ENPP1):c.2101-11del
|
rs397832689
|
|
|
NM_006331.8(EMG1):c.126dup (p.Leu43fs)
|
rs60117710
|
|
|
NM_006432.5(NPC2):c.58G>A (p.Glu20Lys)
|
rs80358260
|
|
|
NM_006618.5(KDM5B):c.2198+25dup
|
rs3216061
|
|
|
NM_006618.5(KDM5B):c.3150C>G (p.Pro1050=)
|
rs1141109
|
|
|
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.2313+31C>G
|
rs9325073
|
|
|
NM_006946.4(SPTBN2):c.309+36T>C
|
rs12805133
|
|
|
NM_007123.6(USH2A):c.1992dup (p.Lys665Ter)
|
rs730880349
|
|
|
NM_012205.3(HAAO):c.124A>T (p.Thr42Ser)
|
rs3816182
|
|
|
NM_012463.4(ATP6V0A2):c.732-23T>C
|
rs2271660
|
|
|
NM_012478.4(WBP2):c.161C>G (p.Pro54Arg)
|
rs770968991
|
|
|
NM_014264.5(PLK4):c.2490G>T (p.Glu830Asp)
|
rs17012739
|
|
|
NM_014363.6(SACS):c.10011C>G (p.Ile3337Met)
|
rs780642116
|
|
|
NM_014363.6(SACS):c.10158A>G (p.Ala3386=)
|
rs775633710
|
|
|
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu)
|
rs144179865
|
|
|
NM_014363.6(SACS):c.10461_10462delinsAA (p.Asn3487_Leu3488delinsLysIle)
|
rs886043821
|
|
|
NM_014363.6(SACS):c.1061C>G (p.Thr354Ser)
|
rs1425519295
|
|
|
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu)
|
rs148286091
|
|
|
NM_014363.6(SACS):c.1066A>G (p.Ile356Val)
|
rs148286091
|
|
|
NM_014363.6(SACS):c.10716C>G (p.Pro3572=)
|
rs886050077
|
|
|
NM_014363.6(SACS):c.10813A>T (p.Lys3605Ter)
|
rs1360298758
|
|
|
NM_014363.6(SACS):c.10822_10823del (p.Ser3608fs)
|
rs1555250082
|
|
|
NM_014363.6(SACS):c.11109C>T (p.Ser3703=)
|
rs1883570677
|
|
|
NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs)
|
rs1400601705
|
|
|
NM_014363.6(SACS):c.11282del (p.Leu3761fs)
|
rs2137567996
|
|
|
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter)
|
rs565203731
|
|
|
NM_014363.6(SACS):c.11432T>C (p.Val3811Ala)
|
rs2137566609
|
|
|
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs)
|
rs1057516365
|
|
|
NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter)
|
rs1555249555
|
|
|
NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser)
|
rs370655945
|
|
|
NM_014363.6(SACS):c.12835_12836del (p.Leu4279fs)
|
rs1555249425
|
|
|
NM_014363.6(SACS):c.12980del (p.Lys4327fs)
|
rs1555249371
|
|
|
NM_014363.6(SACS):c.13563T>C (p.Asn4521=)
|
rs766497653
|
|
|
NM_014363.6(SACS):c.13738_13739del (p.Ter4580LysextTer?)
|
rs776682685
|
|
|
NM_014363.6(SACS):c.1593C>G (p.Ile531Met)
|
rs113756713
|
|
|
NM_014363.6(SACS):c.1672C>T (p.Gln558Ter)
|
rs923921184
|
|
|
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)
|
rs752059006
|
|
|
NM_014363.6(SACS):c.2599T>C (p.Tyr867His)
|
rs774682589
|
|
|
NM_014363.6(SACS):c.2699_2700del (p.Lys900fs)
|
rs1167474602
|
|
|
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser)
|
rs139993038
|
|
|
NM_014363.6(SACS):c.3173T>C (p.Ile1058Thr)
|
rs764812936
|
|
|
NM_014363.6(SACS):c.3356del (p.Pro1119fs)
|
rs1057517039
|
|
|
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)
|
rs144267558
|
|
|
NM_014363.6(SACS):c.3427C>T (p.Gln1143Ter)
|
rs144267558
|
|
|
NM_014363.6(SACS):c.3700T>A (p.Trp1234Arg)
|
rs1192682879
|
|
|
NM_014363.6(SACS):c.382_383del (p.Glu128fs)
|
rs757179309
|
|
|
NM_014363.6(SACS):c.3915T>C (p.His1305=)
|
rs767598017
|
|
|
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter)
|
rs867249938
|
|
|
NM_014363.6(SACS):c.4279C>A (p.Pro1427Thr)
|
rs527513599
|
|
|
NM_014363.6(SACS):c.4565_4568del (p.Leu1522fs)
|
rs1555252349
|
|
|
NM_014363.6(SACS):c.4933C>T (p.Arg1645Ter)
|
rs770901638
|
|
|
NM_014363.6(SACS):c.4986G>A (p.Thr1662=)
|
rs755523201
|
|
|
NM_014363.6(SACS):c.5065_5066del (p.Ser1689fs)
|
rs1372213267
|
|
|
NM_014363.6(SACS):c.5079G>A (p.Met1693Ile)
|
rs775069857
|
|
|
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter)
|
rs1057517311
|
|
|
NM_014363.6(SACS):c.5151dup (p.Ser1718fs)
|
rs754439135
|
|
|
NM_014363.6(SACS):c.5428C>T (p.Gln1810Ter)
|
rs1868872666
|
|
|
NM_014363.6(SACS):c.5591A>G (p.Lys1864Arg)
|
rs1868850876
|
|
|
NM_014363.6(SACS):c.5598_5599del (p.Ile1867fs)
|
rs1555252086
|
|
|
NM_014363.6(SACS):c.5711C>G (p.Thr1904Arg)
|
rs758570844
|
|
|
NM_014363.6(SACS):c.5711C>T (p.Thr1904Ile)
|
rs758570844
|
|
|
NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter)
|
rs1485209013
|
|
|
NM_014363.6(SACS):c.5744_5745del (p.His1915fs)
|
rs1057517138
|
|
|
NM_014363.6(SACS):c.5785C>T (p.Arg1929Trp)
|
rs141019064
|
|
|
NM_014363.6(SACS):c.5855T>A (p.Val1952Asp)
|
rs2137615220
|
|
|
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val)
|
rs537408260
|
|
|
NM_014363.6(SACS):c.6062C>A (p.Ser2021Tyr)
|
rs2137613081
|
|
|
NM_014363.6(SACS):c.6172del (p.Ser2058fs)
|
rs1214399996
|
|
|
NM_014363.6(SACS):c.6343C>T (p.His2115Tyr)
|
rs757161092
|
|
|
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter)
|
rs766711286
|
|
|
NM_014363.6(SACS):c.6434T>A (p.Leu2145Ter)
|
rs770490672
|
|
|
NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala)
|
rs556248979
|
|
|
NM_014363.6(SACS):c.6740C>G (p.Thr2247Arg)
|
rs1190128123
|
|
|
NM_014363.6(SACS):c.699del (p.Asp235fs)
|
rs1415870785
|
|
|
NM_014363.6(SACS):c.7139del (p.Asn2380fs)
|
rs1057516689
|
|
|
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs)
|
rs1555251539
|
|
|
NM_014363.6(SACS):c.7169G>A (p.Gly2390Asp)
|
rs1868637796
|
|
|
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter)
|
rs786204750
|
|
|
NM_014363.6(SACS):c.7448A>G (p.Tyr2483Cys)
|
rs2137600321
|
|
|
NM_014363.6(SACS):c.7713A>T (p.Pro2571=)
|
rs557113294
|
|
|
NM_014363.6(SACS):c.7788del (p.Phe2596fs)
|
rs1057516959
|
|
|
NM_014363.6(SACS):c.7795G>C (p.Asp2599His)
|
rs1868563918
|
|
|
NM_014363.6(SACS):c.7844del (p.Asn2615fs)
|
rs758572409
|
|
|
NM_014363.6(SACS):c.8022T>C (p.Phe2674=)
|
rs34928783
|
|
|
NM_014363.6(SACS):c.8022T>G (p.Phe2674Leu)
|
rs34928783
|
|
|
NM_014363.6(SACS):c.8542_8543del (p.Phe2848fs)
|
rs876657721
|
|
|
NM_014363.6(SACS):c.8755G>T (p.Ala2919Ser)
|
rs886050079
|
|
|
NM_014363.6(SACS):c.8793del (p.Lys2931fs)
|
rs767871841
|
|
|
NM_014363.6(SACS):c.8793dup (p.Arg2932fs)
|
rs767871841
|
|
|
NM_014363.6(SACS):c.8853T>G (p.Val2951=)
|
rs9552929
|
|
|
NM_014363.6(SACS):c.9055A>G (p.Thr3019Ala)
|
rs2137587151
|
|
|
NM_014363.6(SACS):c.961C>T (p.Arg321Ter)
|
rs1175545518
|
|
|
NM_014363.6(SACS):c.972C>A (p.Asp324Glu)
|
rs546652936
|
|
|
NM_014363.6(SACS):c.9912C>T (p.Leu3304=)
|
rs1593124372
|
|
|
NM_015046.6(SETX):c.6848_6851delCAGA
|
|
|
|
NM_015046.7(SETX):c.*431_*432del
|
rs112251805
|
|
|
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser)
|
rs29001584
|
|
|
NM_015046.7(SETX):c.1285A>G (p.Ile429Val)
|
rs747053403
|
|
|
NM_015046.7(SETX):c.12TTG[1] (p.Cys5del)
|
rs774123592
|
|
|
NM_015046.7(SETX):c.1427_1432del (p.His476_Leu477del)
|
rs777314512
|
|
|
NM_015046.7(SETX):c.152G>A (p.Arg51Lys)
|
rs777256092
|
|
|
NM_015046.7(SETX):c.1583C>T (p.Ser528Phe)
|
|
|
|
NM_015046.7(SETX):c.2387_2390del (p.Lys796fs)
|
rs745775419
|
|
|
NM_015046.7(SETX):c.2533C>T (p.Pro845Ser)
|
rs1847046317
|
|
|
NM_015046.7(SETX):c.2849C>A (p.Ser950Tyr)
|
rs1847020598
|
|
|
NM_015046.7(SETX):c.2958G>A (p.Gln986=)
|
rs969060686
|
|
|
NM_015046.7(SETX):c.3040ATT[2] (p.Ile1016del)
|
rs765663814
|
|
|
NM_015046.7(SETX):c.3057TGA[4] (p.Asp1023_Asp1024del)
|
rs572772837
|
|
|
NM_015046.7(SETX):c.3057TGA[7] (p.Asp1024dup)
|
rs572772837
|
|
|
NM_015046.7(SETX):c.3162_3167del (p.Asn1054_Ser1055del)
|
rs576141809
|
|
|
NM_015046.7(SETX):c.32G>A (p.Gly11Asp)
|
rs886063560
|
|
|
NM_015046.7(SETX):c.3350C>T (p.Thr1117Ile)
|
rs1564541749
|
|
|
NM_015046.7(SETX):c.3376T>G (p.Tyr1126Asp)
|
rs907569728
|
|
|
NM_015046.7(SETX):c.3497A>G (p.Glu1166Gly)
|
rs1554820858
|
|
|
NM_015046.7(SETX):c.3651G>C (p.Thr1217=)
|
rs111419285
|
|
|
NM_015046.7(SETX):c.3651G>T (p.Thr1217=)
|
rs111419285
|
|
|
NM_015046.7(SETX):c.3890A>T (p.Tyr1297Phe)
|
|
|
|
NM_015046.7(SETX):c.3950T>C (p.Val1317Ala)
|
rs1564539968
|
|
|
NM_015046.7(SETX):c.4316T>C (p.Leu1439Ser)
|
rs1589737441
|
|
|
NM_015046.7(SETX):c.4336G>T (p.Val1446Leu)
|
rs1477696040
|
|
|
NM_015046.7(SETX):c.4386A>G (p.Glu1462=)
|
rs1554820336
|
|
|
NM_015046.7(SETX):c.43A>G (p.Ile15Val)
|
rs151040199
|
|
|
NM_015046.7(SETX):c.4517T>C (p.Met1506Thr)
|
rs199974622
|
|
|
NM_015046.7(SETX):c.4613G>A (p.Arg1538Gln)
|
|
|
|
NM_015046.7(SETX):c.4816C>T (p.Arg1606Ter)
|
rs759213174
|
|
|
NM_015046.7(SETX):c.4898C>T (p.Ser1633Leu)
|
rs1022473091
|
|
|
NM_015046.7(SETX):c.4934C>G (p.Ala1645Gly)
|
|
|
|
NM_015046.7(SETX):c.5083C>T (p.Gln1695Ter)
|
rs1589734405
|
|
|
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs)
|
rs750959420
|
|
|
NM_015046.7(SETX):c.5375-18CTT[2]
|
rs201317659
|
|
|
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs)
|
rs797045067
|
|
|
NM_015046.7(SETX):c.58C>T (p.Arg20Cys)
|
|
|
|
NM_015046.7(SETX):c.6038T>G (p.Val2013Gly)
|
rs797045068
|
|
|
NM_015046.7(SETX):c.667C>A (p.Leu223Ile)
|
rs774068411
|
|
|
NM_015046.7(SETX):c.668T>A (p.Leu223His)
|
rs1211053963
|
|
|
NM_015046.7(SETX):c.6729_6730del (p.His2243fs)
|
rs752122764
|
|
|
NM_015046.7(SETX):c.6733A>G (p.Met2245Val)
|
|
|
|
NM_015046.7(SETX):c.6843-16dup
|
rs34769225
|
|
|
NM_015046.7(SETX):c.6843-5del
|
rs34769225
|
|
|
NM_015046.7(SETX):c.7157T>C (p.Ile2386Thr)
|
rs201887051
|
|
|
NM_015046.7(SETX):c.7200-10dup
|
rs531485265
|
|
|
NM_015046.7(SETX):c.7488C>G (p.Asp2496Glu)
|
|
|
|
NM_015046.7(SETX):c.7708CCT[1] (p.Pro2571del)
|
rs770590408
|
|
|
NM_015046.7(SETX):c.7725G>A (p.Pro2575=)
|
rs201695580
|
|
|
NM_015046.7(SETX):c.7749C>T (p.Asp2583=)
|
rs754701648
|
|
|
NM_015046.7(SETX):c.7775C>T (p.Ala2592Val)
|
rs1842534708
|
|
|
NM_015046.7(SETX):c.7856A>G (p.Gln2619Arg)
|
rs1421049695
|
|
|
NM_015046.7(SETX):c.7875G>A (p.Pro2625=)
|
rs536241867
|
|
|
NM_015046.7(SETX):c.7948_7961del (p.Thr2650fs)
|
|
|
|
NM_015114.3(ANKLE2):c.1700+104G>C
|
rs10781636
|
|
|
NM_015114.3(ANKLE2):c.1891+84G>A
|
rs7969633
|
|
|
NM_015261.3(NCAPD3):c.1215+28G>A
|
rs896409
|
|
|
NM_015311.3(OBSL1):c.2408-32T>A
|
rs2303543
|
|
|
NM_015311.3(OBSL1):c.2730C>A (p.Ala910=)
|
rs10804275
|
|
|
NM_015311.3(OBSL1):c.5684-37TC[2]
|
rs146790993
|
|
|
NM_015602.4(TOR1AIP1):c.1037C>A (p.Ala346Asp)
|
|
|
|
NM_015602.4(TOR1AIP1):c.1211G>A (p.Arg404Gln)
|
|
|
|
NM_015602.4(TOR1AIP1):c.1609A>G (p.Lys537Glu)
|
rs1558048637
|
|
|
NM_015602.4(TOR1AIP1):c.1688G>A (p.Arg563His)
|
rs748833315
|
|
|
NM_015602.4(TOR1AIP1):c.350A>T (p.Gln117Leu)
|
|
|
|
NM_015602.4(TOR1AIP1):c.7G>A (p.Gly3Ser)
|
|
|
|
NM_015602.4(TOR1AIP1):c.830C>G (p.Ser277Ter)
|
rs2148480016
|
|
|
NM_015602.4(TOR1AIP1):c.855A>C (p.Lys285Asn)
|
rs1558045449
|
|
|
NM_015602.4(TOR1AIP1):c.961C>T (p.Arg321Ter)
|
rs11581962
|
|
|
NM_015602.4(TOR1AIP1):c.964+1G>A
|
rs2274955
|
|
|
NM_015981.4(CAMK2A):c.1467-87A>T
|
rs17712679
|
|
|
NM_016058.5(TPRKB):c.474T>C (p.Ile158=)
|
rs7210
|
|
|
NM_016239.4(MYO15A):c.5133+26A>C
|
rs2075658
|
|
|
NM_016239.4(MYO15A):c.8088+5C>G
|
rs9916193
|
|
|
NM_016373.4(WWOX):c.1057-14T>C
|
rs66481974
|
|
|
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.535G>A (p.Ala179Thr)
|
rs11545029
|
|
|
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_016938.5(EFEMP2):c.975-32C>T
|
rs594689
|
|
|
NM_017739.4(POMGNT1):c.*457C>T
|
rs1657513729
|
|
|
NM_017739.4(POMGNT1):c.1117A>C (p.Lys373Gln)
|
rs752591703
|
|
|
NM_017739.4(POMGNT1):c.1681C>T (p.Pro561Ser)
|
rs2148167563
|
|
|
NM_017739.4(POMGNT1):c.226C>A (p.Gln76Lys)
|
rs972657462
|
|
|
NM_017739.4(POMGNT1):c.722A>G (p.Lys241Arg)
|
rs2148202208
|
|
|
NM_017777.4(MKS1):c.763G>C (p.Gly255Arg)
|
rs201237547
|
|
|
NM_017807.4(OSGEP):c.294A>G (p.Gln98=)
|
rs2275007
|
|
|
NM_018136.5(ASPM):c.10165G>A (p.Val3389Ile)
|
|
|
|
NM_018136.5(ASPM):c.1095T>G (p.Ile365Met)
|
|
|
|
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter)
|
rs587783215
|
|
|
NM_018136.5(ASPM):c.1154_1155del (p.Glu385fs)
|
rs199422137
|
|
|
NM_018136.5(ASPM):c.1179del (p.Asn394fs)
|
rs199422138
|
|
|
NM_018136.5(ASPM):c.1505C>G (p.Ala502Gly)
|
|
|
|
NM_018136.5(ASPM):c.1674T>A (p.Tyr558Ter)
|
rs933106143
|
|
|
NM_018136.5(ASPM):c.1726_1727del (p.Lys576fs)
|
rs1057518268
|
|
|
NM_018136.5(ASPM):c.1729_1730del (p.Ser577fs)
|
rs199422146
|
|
|
NM_018136.5(ASPM):c.1845_1847del (p.Lys616del)
|
rs750297982
|
|
|
NM_018136.5(ASPM):c.1885A>G (p.Ser629Gly)
|
|
|
|
NM_018136.5(ASPM):c.1896_1897del (p.Lys633fs)
|
rs1170413397
|
|
|
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs)
|
rs199422147
|
|
|
NM_018136.5(ASPM):c.2027-13del
|
rs773675080
|
|
|
NM_018136.5(ASPM):c.2042C>T (p.Pro681Leu)
|
rs753945250
|
|
|
NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter)
|
rs145489194
|
|
|
NM_018136.5(ASPM):c.2557A>C (p.Asn853His)
|
rs1553226464
|
|
|
NM_018136.5(ASPM):c.2642C>T (p.Ala881Val)
|
|
|
|
NM_018136.5(ASPM):c.2679G>T (p.Leu893Phe)
|
rs755211990
|
|
|
NM_018136.5(ASPM):c.3082+1G>C
|
rs886041709
|
|
|
NM_018136.5(ASPM):c.3183T>C (p.Leu1061=)
|
rs868630671
|
|
|
NM_018136.5(ASPM):c.3282_3285del (p.Asn1095fs)
|
rs1240081512
|
|
|
NM_018136.5(ASPM):c.3367G>C (p.Val1123Leu)
|
rs1057523743
|
|
|
NM_018136.5(ASPM):c.3742-3dup
|
rs587783236
|
|
|
NM_018136.5(ASPM):c.3853_3854del (p.Asp1285fs)
|
rs587783239
|
|
|
NM_018136.5(ASPM):c.3945_3946del (p.Arg1315fs)
|
rs587783240
|
|
|
NM_018136.5(ASPM):c.3978G>A (p.Trp1326Ter)
|
rs137852995
|
|
|
NM_018136.5(ASPM):c.4148T>C (p.Met1383Thr)
|
|
|
|
NM_018136.5(ASPM):c.4157C>T (p.Ala1386Val)
|
|
|
|
NM_018136.5(ASPM):c.4317G>A (p.Met1439Ile)
|
rs1657362655
|
|
|
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter)
|
rs1057520873
|
|
|
NM_018136.5(ASPM):c.4438_4440dup (p.Glu1480dup)
|
rs769728447
|
|
|
NM_018136.5(ASPM):c.4556A>G (p.Lys1519Arg)
|
|
|
|
NM_018136.5(ASPM):c.4592G>A (p.Arg1531His)
|
rs200681905
|
|
|
NM_018136.5(ASPM):c.4728_4729del (p.Arg1576fs)
|
rs587783245
|
|
|
NM_018136.5(ASPM):c.4795C>T (p.Arg1599Ter)
|
rs199422165
|
|
|
NM_018136.5(ASPM):c.4846T>A (p.Phe1616Ile)
|
rs1657332165
|
|
|
NM_018136.5(ASPM):c.4995T>A (p.Tyr1665Ter)
|
rs2125096196
|
|
|
NM_018136.5(ASPM):c.5196T>A (p.Cys1732Ter)
|
rs587783247
|
|
|
NM_018136.5(ASPM):c.5233C>T (p.Arg1745Ter)
|
rs587783248
|
|
|
NM_018136.5(ASPM):c.5681_5685del (p.Ile1894fs)
|
rs886041282
|
|
|
NM_018136.5(ASPM):c.5842C>T (p.Arg1948Cys)
|
|
|
|
NM_018136.5(ASPM):c.5897A>G (p.Gln1966Arg)
|
rs140834556
|
|
|
NM_018136.5(ASPM):c.5929A>T (p.Ile1977Leu)
|
|
|
|
NM_018136.5(ASPM):c.5975_5983del (p.Ile1992_Lys1994del)
|
|
|
|
NM_018136.5(ASPM):c.6005A>G (p.Lys2002Arg)
|
|
|
|
NM_018136.5(ASPM):c.6082C>T (p.Gln2028Ter)
|
rs1553223496
|
|
|
NM_018136.5(ASPM):c.6337_6338del (p.Ile2113fs)
|
rs199422169
|
|
|
NM_018136.5(ASPM):c.637del (p.Ile213fs)
|
rs587783258
|
|
|
NM_018136.5(ASPM):c.639A>G (p.Ile213Met)
|
|
|
|
NM_018136.5(ASPM):c.6466G>T (p.Gly2156Cys)
|
rs1267196794
|
|
|
NM_018136.5(ASPM):c.6639_6642del (p.Lys2213_Lys2214insTer)
|
rs1334301723
|
|
|
NM_018136.5(ASPM):c.6686_6689del (p.Arg2229fs)
|
rs770540184
|
|
|
NM_018136.5(ASPM):c.6711C>A (p.Asn2237Lys)
|
rs755151801
|
|
|
NM_018136.5(ASPM):c.6716T>C (p.Leu2239Pro)
|
rs548708212
|
|
|
NM_018136.5(ASPM):c.6854_6855del (p.Leu2285fs)
|
rs587783259
|
|
|
NM_018136.5(ASPM):c.6916_6919del (p.Leu2306fs)
|
rs1064795945
|
|
|
NM_018136.5(ASPM):c.6994C>T (p.Arg2332Ter)
|
rs1451306414
|
|
|
NM_018136.5(ASPM):c.7125_7128dup (p.Gln2377fs)
|
rs587783263
|
|
|
NM_018136.5(ASPM):c.7160_7161del (p.Ser2387fs)
|
rs587783265
|
|
|
NM_018136.5(ASPM):c.71T>G (p.Leu24Arg)
|
rs2125116158
|
|
|
NM_018136.5(ASPM):c.7235C>A (p.Thr2412Asn)
|
rs376686304
|
|
|
NM_018136.5(ASPM):c.7325_7332dup (p.Ile2445fs)
|
rs758549961
|
|
|
NM_018136.5(ASPM):c.7502A>G (p.Gln2501Arg)
|
|
|
|
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.7782_7783del (p.Lys2595fs)
|
rs199422173
|
|
|
NM_018136.5(ASPM):c.7783_7786del (p.Lys2595fs)
|
rs763800571
|
|
|
NM_018136.5(ASPM):c.7832G>A (p.Gly2611Asp)
|
|
|
|
NM_018136.5(ASPM):c.7885ATT[2] (p.Ile2631del)
|
|
|
|
NM_018136.5(ASPM):c.7966AGA[1] (p.Arg2657del)
|
rs775391911
|
|
|
NM_018136.5(ASPM):c.8133_8136del (p.Lys2712fs)
|
rs587783278
|
|
|
NM_018136.5(ASPM):c.8266C>T (p.Gln2756Ter)
|
rs763909256
|
|
|
NM_018136.5(ASPM):c.8294A>C (p.Lys2765Thr)
|
rs886045764
|
|
|
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs)
|
rs587783280
|
|
|
NM_018136.5(ASPM):c.8539C>G (p.Leu2847Val)
|
|
|
|
NM_018136.5(ASPM):c.9091C>T (p.Arg3031Ter)
|
rs587783287
|
|
|
NM_018136.5(ASPM):c.9250G>A (p.Val3084Ile)
|
|
|
|
NM_018136.5(ASPM):c.9324del (p.Leu3109fs)
|
rs1163303148
|
|
|
NM_018136.5(ASPM):c.9395T>C (p.Leu3132Pro)
|
rs36004306
|
|
|
NM_018136.5(ASPM):c.9395T>G (p.Leu3132Arg)
|
rs36004306
|
|
|
NM_018136.5(ASPM):c.9455G>A (p.Arg3152Gln)
|
|
|
|
NM_018136.5(ASPM):c.9593G>A (p.Arg3198His)
|
rs145333987
|
|
|
NM_018136.5(ASPM):c.9961C>T (p.Gln3321Ter)
|
rs1482100822
|
|
|
NM_018161.5(NADSYN1):c.612A>C (p.Gln204His)
|
rs7950441
|
|
|
NM_018451.5(CENPJ):c.3704-14_3704-12del
|
rs34991318
|
|
|
NM_020066.5(FMN2):c.162CGG[4] (p.Gly59del)
|
rs71929261
|
|
|
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_020631.6(PLEKHG5):c.1393-22dup
|
rs111312565
|
|
|
NM_020661.4(AICDA):c.428-17dup
|
rs5796316
|
|
|
NM_020751.3(COG6):c.28G>A (p.Ala10Thr)
|
rs3812882
|
|
|
NM_020964.3(EPG5):c.63+15del
|
rs11301517
|
|
|
NM_021116.4(ADCY1):c.2571+37T>G
|
rs2247685
|
|
|
NM_021252.5(RAB18):c.260-43_260-42del
|
rs72201756
|
|
|
NM_021942.6(TRAPPC11):c.2851+42GC[2]
|
rs147708886
|
|
|
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_022124.6(CDH23):c.2100C>T (p.Arg700=)
|
rs2132705726
|
|
|
NM_022124.6(CDH23):c.2432G>A (p.Gly811Asp)
|
rs1203928940
|
|
|
NM_022124.6(CDH23):c.2817C>T (p.Leu939=)
|
rs2132739969
|
|
|
NM_022124.6(CDH23):c.3430+114T>C
|
rs7893748
|
|
|
NM_022124.6(CDH23):c.4663C>G (p.Arg1555Gly)
|
rs773842427
|
|
|
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.5953A>T (p.Ile1985Phe)
|
rs2132947982
|
|
|
NM_022124.6(CDH23):c.6047C>T (p.Thr2016Ile)
|
rs2132948196
|
|
|
NM_022124.6(CDH23):c.605A>C (p.Gln202Pro)
|
rs2132359067
|
|
|
NM_022124.6(CDH23):c.6343C>T (p.Arg2115Cys)
|
rs375329233
|
|
|
NM_022124.6(CDH23):c.7393C>T (p.Arg2465Trp)
|
rs760879110
|
|
|
NM_022124.6(CDH23):c.7849G>C (p.Gly2617Arg)
|
rs369379727
|
|
|
NM_022124.6(CDH23):c.845G>A (p.Ser282Asn)
|
rs2132514962
|
|
|
NM_022124.6(CDH23):c.9382G>A (p.Ala3128Thr)
|
rs2133006667
|
|
|
NM_022124.6(CDH23):c.9587ACA[1] (p.Asn3197del)
|
rs763993100
|
|
|
NM_022124.6(CDH23):c.9937G>A (p.Glu3313Lys)
|
rs2133017674
|
|
|
NM_022772.4(EPS8L2):c.165+72G>A
|
rs7395822
|
|
|
NM_024301.5(FKRP):c.282C>T (p.Pro94=)
|
rs1267805674
|
|
|
NM_024580.6(EFL1):c.1434G>C (p.Glu478Asp)
|
rs2292189
|
|
|
NM_024649.5(BBS1):c.1702G>A (p.Val568Met)
|
rs754300140
|
|
|
NM_024649.5(BBS1):c.277C>T (p.Leu93Phe)
|
rs2134771383
|
|
|
NM_024685.4(BBS10):c.147G>A (p.Arg49=)
|
rs1592493118
|
|
|
NM_024685.4(BBS10):c.235del (p.Thr79fs)
|
rs760693838
|
|
|
NM_024824.5(ZC3H14):c.1354+15A>G
|
rs2297124
|
|
|
NM_025074.7(FRAS1):c.10648+25del
|
rs397994139
|
|
|
NM_025074.7(FRAS1):c.2060A>G (p.Asp687Gly)
|
rs345513
|
|
|
NM_025114.4(CEP290):c.1310del (p.Lys437fs)
|
rs2137917381
|
|
|
NM_025114.4(CEP290):c.164_167del (p.Thr55fs)
|
rs758550675
|
|
|
NM_025114.4(CEP290):c.2268A>G (p.Ser756=)
|
rs2468255
|
|
|
NM_025114.4(CEP290):c.2390del (p.Lys797fs)
|
rs781670422
|
|
|
NM_025114.4(CEP290):c.3574-9del
|
rs10717563
|
|
|
NM_025114.4(CEP290):c.6277G>A (p.Val2093Ile)
|
rs2034578914
|
|
|
NM_025114.4(CEP290):c.6522+5dup
|
rs11405846
|
|
|
NM_025114.4(CEP290):c.6634G>A (p.Glu2212Lys)
|
rs2034330893
|
|
|
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter)
|
rs773642187
|
|
|
NM_025216.3(WNT10A):c.949del (p.Ala317fs)
|
rs775990266
|
|
|
NM_031885.5(BBS2):c.1169G>T (p.Ser390Ile)
|
rs1169691619
|
|
|
NM_031885.5(BBS2):c.1725del (p.Phe575fs)
|
rs2144132609
|
|
|
NM_031885.5(BBS2):c.1973A>G (p.Tyr658Cys)
|
rs753656568
|
|
|
NM_031942.5(CDCA7):c.895-27C>G
|
rs2288993
|
|
|
NM_032119.4(ADGRV1):c.18433-17_18433-16insCT
|
rs1554239805
|
|
|
NM_032119.4(ADGRV1):c.5953A>G (p.Asn1985Asp)
|
rs41303352
|
|
|
NM_032119.4(ADGRV1):c.7945+27C>A
|
rs10068473
|
|
|
NM_032806.6(POMGNT2):c.-43C>T
|
rs2936818
|
|
|
NM_033056.4(PCDH15):c.4389del (p.Gln1464fs)
|
rs35296328
|
|
|
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1])
|
rs397517465
|
|
|
NM_033056.4(PCDH15):c.5339C>G (p.Pro1780Arg)
|
rs1564533607
|
|
|
NM_033056.4(PCDH15):c.5674C>T (p.Leu1892Phe)
|
rs2132483191
|
|
|
NM_033064.5(ATCAY):c.545-65T>C
|
rs3810373
|
|
|
NM_033109.5(PNPT1):c.*11dup
|
rs35916020
|
|
|
NM_033550.4(TP53RK):c.193A>C (p.Lys65Gln)
|
rs1568972559
|
|
|
NM_052989.3(IFT122):c.1993-7G>C
|
rs2285354
|
|
|
NM_080680.3(COL11A2):c.2682+26A>C
|
rs9277932
|
|
|
NM_080680.3(COL11A2):c.826G>A (p.Glu276Lys)
|
rs9277934
|
|
|
NM_138694.4(PKHD1):c.10160C>T (p.Thr3387Ile)
|
rs2150418782
|
|
|
NM_138694.4(PKHD1):c.11037A>T (p.Ser3679=)
|
rs1204544455
|
|
|
NM_138694.4(PKHD1):c.11920G>A (p.Gly3974Ser)
|
rs2150241066
|
|
|
NM_138694.4(PKHD1):c.1303G>C (p.Gly435Arg)
|
rs763244593
|
|
|
NM_138694.4(PKHD1):c.2664del (p.Gly890fs)
|
rs2128186439
|
|
|
NM_138694.4(PKHD1):c.3259G>A (p.Val1087Met)
|
rs372422063
|
|
|
NM_138694.4(PKHD1):c.3707C>T (p.Ser1236Phe)
|
rs542983527
|
|
|
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs)
|
rs746972457
|
|
|
NM_138694.4(PKHD1):c.4273C>T (p.Leu1425Phe)
|
rs565836750
|
|
|
NM_138694.4(PKHD1):c.5786C>G (p.Ser1929Cys)
|
rs1791759592
|
|
|
NM_138694.4(PKHD1):c.674A>G (p.Gln225Arg)
|
rs749690371
|
|
|
NM_138694.4(PKHD1):c.7012G>C (p.Gly2338Arg)
|
rs2127557145
|
|
|
NM_138694.4(PKHD1):c.7514T>G (p.Leu2505Trp)
|
rs769645972
|
|
|
NM_138694.4(PKHD1):c.7713del (p.His2572fs)
|
rs1057517078
|
|
|
NM_138694.4(PKHD1):c.779-25dup
|
rs5876252
|
|
|
NM_138694.4(PKHD1):c.7946A>T (p.Asn2649Ile)
|
rs2151628916
|
|
|
NM_138694.4(PKHD1):c.881-1G>A
|
rs1554220431
|
|
|
NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=)
|
rs745523374
|
|
|
NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys)
|
rs759568939
|
|
|
NM_138694.4(PKHD1):c.9739G>C (p.Val3247Leu)
|
rs2150981332
|
|
|
NM_138775.3(ALKBH8):c.772-72_772-71del
|
rs5794554
|
|
|
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_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_147196.3(TMIE):c.367AAG[8] (p.Lys131del)
|
rs10578999
|
|
|
NM_152617.4(RNF168):c.378+26del
|
rs62798260
|
|
|
NM_152618.3(BBS12):c.1767A>G (p.Lys589=)
|
rs2150737724
|
|
|
NM_153676.4(USH1C):c.1261-34C>T
|
rs2190454
|
|
|
NM_153676.4(USH1C):c.2546+125A>G
|
rs2072229
|
|
|
NM_153676.4(USH1C):c.496+33=
|
rs12795083
|
|
|
NM_153700.2(STRC):c.22CTG[10] (p.Leu18del)
|
rs1567120678
|
|
|
NM_153700.2(STRC):c.274C>T (p.Arg92Trp)
|
rs1484849703
|
|
|
NM_153700.2(STRC):c.3681+11G>A
|
rs796781098
|
|
|
NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly)
|
rs376104748
|
|
|
NM_153700.2(STRC):c.4251del (p.Leu1417_Leu1418insTer)
|
rs1366021609
|
|
|
NM_153717.3(EVC):c.1113del (p.Thr372fs)
|
rs2152076090
|
|
|
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys)
|
rs2302075
|
|
|
NM_153717.3(EVC):c.1696G>A (p.Ala566Thr)
|
rs144943762
|
|
|
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln)
|
rs1383180
|
|
|
NM_153717.3(EVC):c.1750del (p.Gln584fs)
|
rs1736000365
|
|
|
NM_153717.3(EVC):c.1854C>T (p.Gly618=)
|
rs11737221
|
|
|
NM_153717.3(EVC):c.1988G>C (p.Arg663Pro)
|
rs372089496
|
|
|
NM_153717.3(EVC):c.2098-1G>C
|
rs773019082
|
|
|
NM_153717.3(EVC):c.2449+15del
|
rs398092136
|
|
|
NM_170682.4(P2RX2):c.173+28_173+41del
|
rs200710959
|
|
|
NM_173551.5(ANKS6):c.360-126C>A
|
rs7038640
|
|
|
NM_174916.3(UBR1):c.81+32T>C
|
rs68062403
|
|
|
NM_181741.4(ORC4):c.-17-11dup
|
rs2307399
|
|
|
NM_181741.4(ORC4):c.763-9del
|
rs66919703
|
|
|
NM_182961.4(SYNE1):c.11254-31T>G
|
rs6932325
|
|
|
NM_182961.4(SYNE1):c.11581-15dup
|
rs5880967
|
|
|
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.62C>T (p.Ala21Val)
|
rs2148144145
|
|
|
NM_198525.3(KIF7):c.195G>C (p.Ala65=)
|
rs8179066
|
|
|
NM_201384.3(PLEC):c.10612T>C (p.Leu3538=)
|
rs6992333
|
|
|
NM_201384.3(PLEC):c.174+22G>C
|
rs7823393
|
|
|
NM_201384.3(PLEC):c.2304+9dup
|
rs35671527
|
|
|
NM_201384.3(PLEC):c.378T>C (p.Ala126=)
|
rs6993938
|
|
|
NM_201384.3(PLEC):c.946-33C>G
|
rs6994460
|
|
|
NM_203486.3(DLL3):c.546C>G (p.Ala182=)
|
rs8106337
|
|
|
NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs)
|
rs774573692
|
|
|
NM_206933.4(USH2A):c.*4A>G
|
rs530405236
|
|
|
NM_206933.4(USH2A):c.10013C>T (p.Ser3338Leu)
|
rs746870063
|
|
|
NM_206933.4(USH2A):c.10074C>A (p.Cys3358Ter)
|
rs1403618793
|
|
|
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter)
|
rs772808534
|
|
|
NM_206933.4(USH2A):c.10175T>A (p.Met3392Lys)
|
rs757682417
|
|
|
NM_206933.4(USH2A):c.10190_10191del (p.Lys3397fs)
|
rs397517964
|
|
|
NM_206933.4(USH2A):c.10256_10262delinsCATTTGCACTGTGCAGTGA (p.Asn3419_Thr3421delinsThrPheAlaLeuCysSerAsp)
|
rs1558097546
|
|
|
NM_206933.4(USH2A):c.10265G>A (p.Ser3422Asn)
|
rs773660267
|
|
|
NM_206933.4(USH2A):c.10331G>A (p.Cys3444Tyr)
|
|
|
|
NM_206933.4(USH2A):c.10388-1G>A
|
rs1553261478
|
|
|
NM_206933.4(USH2A):c.10388-2A>G
|
rs1553261479
|
|
|
NM_206933.4(USH2A):c.10398C>G (p.Leu3466=)
|
rs563370514
|
|
|
NM_206933.4(USH2A):c.10398C>T (p.Leu3466=)
|
rs563370514
|
|
|
NM_206933.4(USH2A):c.10415A>G (p.Tyr3472Cys)
|
rs1553261469
|
|
|
NM_206933.4(USH2A):c.1041T>C (p.Asp347=)
|
rs2102655884
|
|
|
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter)
|
rs111033379
|
|
|
NM_206933.4(USH2A):c.10474G>T (p.Ala3492Ser)
|
rs771610821
|
|
|
NM_206933.4(USH2A):c.10525A>T (p.Lys3509Ter)
|
rs944675223
|
|
|
NM_206933.4(USH2A):c.10526A>G (p.Lys3509Arg)
|
rs2102763446
|
|
|
NM_206933.4(USH2A):c.10585+1G>A
|
rs2102763351
|
|
|
NM_206933.4(USH2A):c.10595T>C (p.Ile3532Thr)
|
|
|
|
NM_206933.4(USH2A):c.10612C>T (p.Arg3538Ter)
|
rs878853413
|
|
|
NM_206933.4(USH2A):c.10628G>A (p.Arg3543His)
|
|
|
|
NM_206933.4(USH2A):c.10631T>C (p.Phe3544Ser)
|
rs2102762754
|
|
|
NM_206933.4(USH2A):c.10636G>A (p.Gly3546Arg)
|
rs1553261372
|
|
|
NM_206933.4(USH2A):c.10667G>A (p.Gly3556Glu)
|
rs397517968
|
|
|
NM_206933.4(USH2A):c.10699del (p.Gln3566_Leu3567insTer)
|
rs1661659605
|
|
|
NM_206933.4(USH2A):c.1069A>G (p.Asn357Asp)
|
rs144560419
|
|
|
NM_206933.4(USH2A):c.10740+7G>C
|
rs201206110
|
|
|
NM_206933.4(USH2A):c.10740G>C (p.Lys3580Asn)
|
rs369507534
|
|
|
NM_206933.4(USH2A):c.10749A>C (p.Ala3583=)
|
rs747834026
|
|
|
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter)
|
rs111033418
|
|
|
NM_206933.4(USH2A):c.10855G>A (p.Val3619Ile)
|
|
|
|
NM_206933.4(USH2A):c.10878G>T (p.Arg3626Ser)
|
|
|
|
NM_206933.4(USH2A):c.10993G>A (p.Gly3665Arg)
|
|
|
|
NM_206933.4(USH2A):c.11065C>T (p.Arg3689Ter)
|
rs41314534
|
|
|
NM_206933.4(USH2A):c.11072T>A (p.Ile3691Asn)
|
rs2102742330
|
|
|
NM_206933.4(USH2A):c.11095G>T (p.Glu3699Ter)
|
rs755804518
|
|
|
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs)
|
rs1366496013
|
|
|
NM_206933.4(USH2A):c.11156G>T (p.Arg3719Leu)
|
rs527236139
|
|
|
NM_206933.4(USH2A):c.11168T>G (p.Leu3723Trp)
|
rs928040621
|
|
|
NM_206933.4(USH2A):c.1116A>T (p.Ser372=)
|
rs754923350
|
|
|
NM_206933.4(USH2A):c.11203A>T (p.Thr3735Ser)
|
|
|
|
NM_206933.4(USH2A):c.11215C>G (p.Leu3739Val)
|
rs2102742157
|
|
|
NM_206933.4(USH2A):c.11231+1G>A
|
rs111033382
|
|
|
NM_206933.4(USH2A):c.11231+1G>T
|
rs111033382
|
|
|
NM_206933.4(USH2A):c.11235C>A (p.Tyr3745Ter)
|
rs768062696
|
|
|
NM_206933.4(USH2A):c.11328T>A (p.Tyr3776Ter)
|
rs749726310
|
|
|
NM_206933.4(USH2A):c.11389+14del
|
rs79494833
|
|
|
NM_206933.4(USH2A):c.11389+1G>A
|
rs368770647
|
|
|
NM_206933.4(USH2A):c.11389+1del
|
rs1414935620
|
|
|
NM_206933.4(USH2A):c.11390-24CT[7]
|
rs140003076
|
|
|
NM_206933.4(USH2A):c.11403_11404delinsTTT (p.Glu3802fs)
|
rs1553257707
|
|
|
NM_206933.4(USH2A):c.11411del (p.Pro3804fs)
|
rs397517973
|
|
|
NM_206933.4(USH2A):c.1142A>G (p.Gln381Arg)
|
rs1553250774
|
|
|
NM_206933.4(USH2A):c.1143+1G>A
|
rs397517974
|
|
|
NM_206933.4(USH2A):c.11431_11434del (p.Leu3811fs)
|
rs1553257705
|
|
|
NM_206933.4(USH2A):c.1144-2A>T
|
rs2037686445
|
|
|
NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter)
|
rs727505337
|
|
|
NM_206933.4(USH2A):c.11537C>T (p.Ala3846Val)
|
rs1553257673
|
|
|
NM_206933.4(USH2A):c.11549-1G>A
|
rs878853407
|
|
|
NM_206933.4(USH2A):c.11549-5del
|
rs34565443
|
|
|
NM_206933.4(USH2A):c.11549-5dup
|
rs34565443
|
|
|
NM_206933.4(USH2A):c.11549del
|
rs1660304704
|
|
|
NM_206933.4(USH2A):c.11594C>A (p.Ala3865Glu)
|
rs1064797132
|
|
|
NM_206933.4(USH2A):c.11602A>G (p.Met3868Val)
|
rs35309576
|
|
|
NM_206933.4(USH2A):c.11649A>G (p.Ile3883Met)
|
rs397517975
|
|
|
NM_206933.4(USH2A):c.11687TCA[2] (p.Ile3898del)
|
rs727504714
|
|
|
NM_206933.4(USH2A):c.11711G>A (p.Arg3904Lys)
|
|
|
|
NM_206933.4(USH2A):c.11712-2A>C
|
rs753505333
|
|
|
NM_206933.4(USH2A):c.11728G>C (p.Glu3910Gln)
|
rs1436435041
|
|
|
NM_206933.4(USH2A):c.11824G>A (p.Val3942Ile)
|
rs1659890930
|
|
|
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs)
|
rs779791079
|
|
|
NM_206933.4(USH2A):c.12022G>A (p.Asp4008Asn)
|
rs866937010
|
|
|
NM_206933.4(USH2A):c.12067-1G>C
|
rs397517977
|
|
|
NM_206933.4(USH2A):c.12067-31del
|
rs5780842
|
|
|
NM_206933.4(USH2A):c.12088C>G (p.Leu4030Val)
|
rs141528682
|
|
|
NM_206933.4(USH2A):c.12118C>T (p.Arg4040Cys)
|
|
|
|
NM_206933.4(USH2A):c.1214del (p.Asn405fs)
|
rs750228923
|
|
|
NM_206933.4(USH2A):c.12194C>T (p.Ser4065Phe)
|
|
|
|
NM_206933.4(USH2A):c.12199A>C (p.Ser4067Arg)
|
|
|
|
NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter)
|
rs988693758
|
|
|
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs)
|
rs398124618
|
|
|
NM_206933.4(USH2A):c.1226G>A (p.Trp409Ter)
|
rs2037682180
|
|
|
NM_206933.4(USH2A):c.12294+1G>C
|
rs111033526
|
|
|
NM_206933.4(USH2A):c.12299ACA[1] (p.Asn4101del)
|
rs1657997491
|
|
|
NM_206933.4(USH2A):c.12419G>T (p.Cys4140Phe)
|
rs1064797131
|
|
|
NM_206933.4(USH2A):c.1246G>A (p.Ala416Thr)
|
rs187897763
|
|
|
NM_206933.4(USH2A):c.1246G>T (p.Ala416Ser)
|
rs187897763
|
|
|
NM_206933.4(USH2A):c.12484A>G (p.Thr4162Ala)
|
rs1363933493
|
|
|
NM_206933.4(USH2A):c.12560G>T (p.Arg4187Leu)
|
rs147304271
|
|
|
NM_206933.4(USH2A):c.12586G>A (p.Glu4196Lys)
|
rs770065010
|
|
|
NM_206933.4(USH2A):c.1259G>A (p.Gly420Asp)
|
|
|
|
NM_206933.4(USH2A):c.12602del (p.Gly4201fs)
|
rs1553252499
|
|
|
NM_206933.4(USH2A):c.12611_12612inv (p.Thr4204Met)
|
|
|
|
NM_206933.4(USH2A):c.12697_12698del (p.Trp4233fs)
|
rs764917754
|
|
|
NM_206933.4(USH2A):c.12714T>G (p.Tyr4238Ter)
|
rs397517981
|
|
|
NM_206933.4(USH2A):c.12743A>G (p.His4248Arg)
|
rs145830318
|
|
|
NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter)
|
rs1362058696
|
|
|
NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter)
|
rs397517983
|
|
|
NM_206933.4(USH2A):c.12877G>A (p.Gly4293Ser)
|
rs727505117
|
|
|
NM_206933.4(USH2A):c.12889T>C (p.Ser4297Pro)
|
rs1553252463
|
|
|
NM_206933.4(USH2A):c.12940G>A (p.Val4314Met)
|
|
|
|
NM_206933.4(USH2A):c.12973C>G (p.Pro4325Ala)
|
rs1657955894
|
|
|
NM_206933.4(USH2A):c.1299T>C (p.Pro433=)
|
rs1571702060
|
|
|
NM_206933.4(USH2A):c.13126T>G (p.Trp4376Gly)
|
rs775490668
|
|
|
NM_206933.4(USH2A):c.1312_1327dup (p.Asn443fs)
|
rs1415157305
|
|
|
NM_206933.4(USH2A):c.13165T>C (p.Tyr4389His)
|
rs2102665721
|
|
|
NM_206933.4(USH2A):c.131G>A (p.Gly44Glu)
|
rs2039690182
|
|
|
NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs)
|
rs746447649
|
|
|
NM_206933.4(USH2A):c.13257_13263del (p.Phe4419fs)
|
rs1057517533
|
|
|
NM_206933.4(USH2A):c.1328+37_1328+40del
|
rs145313346
|
|
|
NM_206933.4(USH2A):c.13312T>C (p.Trp4438Arg)
|
rs372802465
|
|
|
NM_206933.4(USH2A):c.13335_13337del (p.Glu4445_Asn4446delinsAsp)
|
rs775556188
|
|
|
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu)
|
rs1553252388
|
|
|
NM_206933.4(USH2A):c.13339A>T (p.Met4447Leu)
|
rs139474806
|
|
|
NM_206933.4(USH2A):c.13374del (p.Glu4458fs)
|
rs727503715
|
|
|
NM_206933.4(USH2A):c.13414G>A (p.Gly4472Ser)
|
rs1657932443
|
|
|
NM_206933.4(USH2A):c.13465G>A (p.Gly4489Ser)
|
rs1293619630
|
|
|
NM_206933.4(USH2A):c.13567G>T (p.Val4523Phe)
|
rs746442849
|
|
|
NM_206933.4(USH2A):c.13599del (p.Met4535fs)
|
rs2102664886
|
|
|
NM_206933.4(USH2A):c.13625C>G (p.Ala4542Gly)
|
rs775560370
|
|
|
NM_206933.4(USH2A):c.13633C>T (p.Pro4545Ser)
|
rs2102664812
|
|
|
NM_206933.4(USH2A):c.13767T>A (p.Phe4589Leu)
|
rs2102664559
|
|
|
NM_206933.4(USH2A):c.13811+3A>G
|
rs760716728
|
|
|
NM_206933.4(USH2A):c.13812-1G>A
|
rs199782530
|
|
|
NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter)
|
rs367674026
|
|
|
NM_206933.4(USH2A):c.13857A>G (p.Ser4619=)
|
rs373694614
|
|
|
NM_206933.4(USH2A):c.13894C>T (p.Pro4632Ser)
|
|
|
|
NM_206933.4(USH2A):c.13898del (p.Pro4632_Leu4633insTer)
|
rs1553252052
|
|
|
NM_206933.4(USH2A):c.13985del (p.Gln4662fs)
|
rs1553252041
|
|
|
NM_206933.4(USH2A):c.14031dup (p.Ala4678fs)
|
rs397517988
|
|
|
NM_206933.4(USH2A):c.14131C>T (p.Gln4711Ter)
|
rs747063294
|
|
|
NM_206933.4(USH2A):c.14134-9T>C
|
rs899521308
|
|
|
NM_206933.4(USH2A):c.14146A>G (p.Asn4716Asp)
|
rs2102645078
|
|
|
NM_206933.4(USH2A):c.14180G>A (p.Trp4727Ter)
|
rs397517989
|
|
|
NM_206933.4(USH2A):c.14225_14232dup (p.Val4745fs)
|
rs1657036615
|
|
|
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg)
|
rs397517990
|
|
|
NM_206933.4(USH2A):c.14365C>T (p.Gln4789Ter)
|
rs1571929573
|
|
|
NM_206933.4(USH2A):c.14402_14403del (p.Tyr4801fs)
|
rs1553250192
|
|
|
NM_206933.4(USH2A):c.14475T>A (p.His4825Gln)
|
|
|
|
NM_206933.4(USH2A):c.14513G>A (p.Gly4838Glu)
|
rs41315587
|
|
|
NM_206933.4(USH2A):c.14582+1G>C
|
rs1553250150
|
|
|
NM_206933.4(USH2A):c.14595A>G (p.Gln4865=)
|
|
|
|
NM_206933.4(USH2A):c.14632T>G (p.Cys4878Gly)
|
rs779400517
|
|
|
NM_206933.4(USH2A):c.14635A>G (p.Thr4879Ala)
|
rs745580452
|
|
|
NM_206933.4(USH2A):c.14747del (p.Gly4916fs)
|
rs2102642087
|
|
|
NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter)
|
rs754834155
|
|
|
NM_206933.4(USH2A):c.14791+2T>A
|
rs1553250050
|
|
|
NM_206933.4(USH2A):c.147T>C (p.Val49=)
|
rs1553258114
|
|
|
NM_206933.4(USH2A):c.14838G>T (p.Val4946=)
|
rs949583594
|
|
|
NM_206933.4(USH2A):c.14885dup (p.Glu4963fs)
|
rs2102636006
|
|
|
NM_206933.4(USH2A):c.14901C>T (p.Thr4967=)
|
rs397517993
|
|
|
NM_206933.4(USH2A):c.14917G>A (p.Val4973Met)
|
|
|
|
NM_206933.4(USH2A):c.14977_14978del (p.Phe4993fs)
|
rs747160949
|
|
|
NM_206933.4(USH2A):c.15001G>A (p.Glu5001Lys)
|
|
|
|
NM_206933.4(USH2A):c.15044C>T (p.Thr5015Ile)
|
rs1029854359
|
|
|
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs)
|
rs1656419435
|
|
|
NM_206933.4(USH2A):c.15089C>A (p.Ser5030Ter)
|
rs758660532
|
|
|
NM_206933.4(USH2A):c.15144G>A (p.Ala5048=)
|
rs397517998
|
|
|
NM_206933.4(USH2A):c.15144G>C (p.Ala5048=)
|
rs397517998
|
|
|
NM_206933.4(USH2A):c.1516TAT[1] (p.Tyr507del)
|
rs1553250595
|
|
|
NM_206933.4(USH2A):c.15172T>C (p.Phe5058Leu)
|
|
|
|
NM_206933.4(USH2A):c.1521_1522delinsAT (p.Tyr507_Ala508delinsTer)
|
rs1571701069
|
|
|
NM_206933.4(USH2A):c.1522G>A (p.Ala508Thr)
|
rs397517999
|
|
|
NM_206933.4(USH2A):c.15298-18_15301dup
|
rs1553248238
|
|
|
NM_206933.4(USH2A):c.15307G>A (p.Asp5103Asn)
|
|
|
|
NM_206933.4(USH2A):c.15321C>T (p.Pro5107=)
|
rs397518000
|
|
|
NM_206933.4(USH2A):c.15322C>T (p.Arg5108Trp)
|
rs746098518
|
|
|
NM_206933.4(USH2A):c.15322del (p.Arg5108fs)
|
rs1553248234
|
|
|
NM_206933.4(USH2A):c.15371del (p.Leu5124fs)
|
rs1656163649
|
|
|
NM_206933.4(USH2A):c.15373C>T (p.Arg5125Cys)
|
|
|
|
NM_206933.4(USH2A):c.15380del (p.Pro5127fs)
|
rs1553248216
|
|
|
NM_206933.4(USH2A):c.15428G>A (p.Arg5143His)
|
rs111033435
|
|
|
NM_206933.4(USH2A):c.15479A>G (p.Asn5160Ser)
|
|
|
|
NM_206933.4(USH2A):c.15526G>A (p.Asp5176Asn)
|
rs774383785
|
|
|
NM_206933.4(USH2A):c.15577del (p.Glu5193fs)
|
rs1553313073
|
|
|
NM_206933.4(USH2A):c.1558del (p.Cys520fs)
|
rs878853410
|
|
|
NM_206933.4(USH2A):c.1571C>T (p.Ala524Val)
|
rs772624410
|
|
|
NM_206933.4(USH2A):c.1580G>T (p.Cys527Phe)
|
rs755735339
|
|
|
NM_206933.4(USH2A):c.1644+5G>C
|
rs1558036810
|
|
|
NM_206933.4(USH2A):c.1645-2A>G
|
|
|
|
NM_206933.4(USH2A):c.1645-8del
|
rs763490382
|
|
|
NM_206933.4(USH2A):c.1645T>A (p.Cys549Ser)
|
rs1064797139
|
|
|
NM_206933.4(USH2A):c.1648G>C (p.Asp550His)
|
rs727504805
|
|
|
NM_206933.4(USH2A):c.1679del (p.Pro560fs)
|
rs773539640
|
|
|
NM_206933.4(USH2A):c.1722T>G (p.Pro574=)
|
rs397518002
|
|
|
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr)
|
rs483353054
|
|
|
NM_206933.4(USH2A):c.1824dup (p.Glu609Ter)
|
rs2037013894
|
|
|
NM_206933.4(USH2A):c.1832A>C (p.Asn611Thr)
|
rs2102610653
|
|
|
NM_206933.4(USH2A):c.188G>C (p.Arg63Pro)
|
rs369806765
|
|
|
NM_206933.4(USH2A):c.1891G>C (p.Asp631His)
|
rs552400144
|
|
|
NM_206933.4(USH2A):c.1985G>C (p.Cys662Ser)
|
rs1487450999
|
|
|
NM_206933.4(USH2A):c.2023C>T (p.Gln675Ter)
|
rs868562952
|
|
|
NM_206933.4(USH2A):c.2073C>A (p.Cys691Ter)
|
rs376674482
|
|
|
NM_206933.4(USH2A):c.2081G>C (p.Cys694Ser)
|
rs137954284
|
|
|
NM_206933.4(USH2A):c.2087G>T (p.Cys696Phe)
|
rs1352007983
|
|
|
NM_206933.4(USH2A):c.2168-2A>G
|
rs993185407
|
|
|
NM_206933.4(USH2A):c.2185T>C (p.Cys729Arg)
|
rs2102546492
|
|
|
NM_206933.4(USH2A):c.2293C>T (p.Gln765Ter)
|
rs777629750
|
|
|
NM_206933.4(USH2A):c.2309AAG[1] (p.Glu771del)
|
rs1553320519
|
|
|
NM_206933.4(USH2A):c.236_239dup (p.Gln81fs)
|
rs1553258097
|
|
|
NM_206933.4(USH2A):c.2391_2392del (p.Cys797_Asp798delinsTer)
|
rs2036063892
|
|
|
NM_206933.4(USH2A):c.2431_2432del (p.Lys811fs)
|
rs2102545818
|
|
|
NM_206933.4(USH2A):c.253A>G (p.Ile85Val)
|
rs770983063
|
|
|
NM_206933.4(USH2A):c.2616del (p.Gly873_Val874insTer)
|
rs1553320451
|
|
|
NM_206933.4(USH2A):c.2750G>A (p.Ser917Asn)
|
rs776323626
|
|
|
NM_206933.4(USH2A):c.2775T>C (p.Asn925=)
|
rs779331611
|
|
|
NM_206933.4(USH2A):c.2779C>T (p.Gln927Ter)
|
rs1438734382
|
|
|
NM_206933.4(USH2A):c.2809+1G>A
|
rs759433119
|
|
|
NM_206933.4(USH2A):c.2809+2T>A
|
rs1553320397
|
|
|
NM_206933.4(USH2A):c.2829C>A (p.Gly943=)
|
rs397518007
|
|
|
NM_206933.4(USH2A):c.2898del (p.Thr967fs)
|
rs397518008
|
|
|
NM_206933.4(USH2A):c.2942G>A (p.Arg981His)
|
|
|
|
NM_206933.4(USH2A):c.2994-10T>G
|
rs748702655
|
|
|
NM_206933.4(USH2A):c.3008A>G (p.Asn1003Ser)
|
rs2035366945
|
|
|
NM_206933.4(USH2A):c.3026C>A (p.Ala1009Asp)
|
rs150729680
|
|
|
NM_206933.4(USH2A):c.3026C>G (p.Ala1009Gly)
|
|
|
|
NM_206933.4(USH2A):c.3109C>T (p.Pro1037Ser)
|
rs1396798963
|
|
|
NM_206933.4(USH2A):c.313_321del (p.Leu105_Ser107del)
|
rs1396847135
|
|
|
NM_206933.4(USH2A):c.3170A>G (p.Gln1057Arg)
|
rs111033377
|
|
|
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs)
|
rs886039450
|
|
|
NM_206933.4(USH2A):c.3221G>A (p.Trp1074Ter)
|
rs1064797138
|
|
|
NM_206933.4(USH2A):c.3316+6T>C
|
rs373631038
|
|
|
NM_206933.4(USH2A):c.3317-25dup
|
rs376363548
|
|
|
NM_206933.4(USH2A):c.3381del (p.Thr1128fs)
|
rs2034948574
|
|
|
NM_206933.4(USH2A):c.3468T>C (p.Tyr1156=)
|
|
|
|
NM_206933.4(USH2A):c.349C>T (p.His117Tyr)
|
|
|
|
NM_206933.4(USH2A):c.3546T>A (p.Tyr1182Ter)
|
rs762167370
|
|
|
NM_206933.4(USH2A):c.3558del (p.Cys1186fs)
|
rs397518014
|
|
|
NM_206933.4(USH2A):c.3589del (p.Ser1197fs)
|
rs1553313810
|
|
|
NM_206933.4(USH2A):c.3596_3598del (p.Glu1199del)
|
rs1294733964
|
|
|
NM_206933.4(USH2A):c.3680G>C (p.Gly1227Ala)
|
|
|
|
NM_206933.4(USH2A):c.3686T>G (p.Leu1229Ter)
|
rs2034938852
|
|
|
NM_206933.4(USH2A):c.3724C>T (p.Pro1242Ser)
|
rs755849364
|
|
|
NM_206933.4(USH2A):c.3809A>G (p.Asn1270Ser)
|
|
|
|
NM_206933.4(USH2A):c.3820A>G (p.Ile1274Val)
|
|
|
|
NM_206933.4(USH2A):c.387del (p.Phe129fs)
|
rs1484339054
|
|
|
NM_206933.4(USH2A):c.3884G>A (p.Arg1295Gln)
|
rs372993160
|
|
|
NM_206933.4(USH2A):c.3884G>T (p.Arg1295Leu)
|
rs372993160
|
|
|
NM_206933.4(USH2A):c.3920C>G (p.Ser1307Ter)
|
rs756623509
|
|
|
NM_206933.4(USH2A):c.4002G>A (p.Lys1334=)
|
rs727503733
|
|
|
NM_206933.4(USH2A):c.4024G>C (p.Val1342Leu)
|
rs778505422
|
|
|
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His)
|
rs754634823
|
|
|
NM_206933.4(USH2A):c.4046del (p.Ser1349fs)
|
rs2034899784
|
|
|
NM_206933.4(USH2A):c.410C>T (p.Ser137Phe)
|
|
|
|
NM_206933.4(USH2A):c.4129T>A (p.Ser1377Thr)
|
rs2102460604
|
|
|
NM_206933.4(USH2A):c.4133_4134dup (p.Asn1379fs)
|
rs397518015
|
|
|
NM_206933.4(USH2A):c.4136A>G (p.Asn1379Ser)
|
rs752569816
|
|
|
NM_206933.4(USH2A):c.4174G>T (p.Gly1392Ter)
|
rs1177198729
|
|
|
NM_206933.4(USH2A):c.4189_4193dup (p.Ile1399fs)
|
rs1553313308
|
|
|
NM_206933.4(USH2A):c.4217C>A (p.Ser1406Ter)
|
rs1308702971
|
|
|
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter)
|
rs746551311
|
|
|
NM_206933.4(USH2A):c.4251+1del
|
rs2102460236
|
|
|
NM_206933.4(USH2A):c.4251+3A>G
|
rs1181655123
|
|
|
NM_206933.4(USH2A):c.4251G>T (p.Gln1417His)
|
rs2102460239
|
|
|
NM_206933.4(USH2A):c.4252-15dup
|
rs770949401
|
|
|
NM_206933.4(USH2A):c.4252-36CTTT[5]
|
rs372388546
|
|
|
NM_206933.4(USH2A):c.4282T>C (p.Ser1428Pro)
|
rs369185265
|
|
|
NM_206933.4(USH2A):c.4335T>G (p.Thr1445=)
|
rs397518016
|
|
|
NM_206933.4(USH2A):c.43C>T (p.Gln15Ter)
|
rs1553258122
|
|
|
NM_206933.4(USH2A):c.4405C>T (p.Gln1469Ter)
|
rs797045113
|
|
|
NM_206933.4(USH2A):c.449T>A (p.Leu150Ter)
|
rs1553258037
|
|
|
NM_206933.4(USH2A):c.4558A>T (p.Ile1520Phe)
|
rs770790346
|
|
|
NM_206933.4(USH2A):c.4668G>A (p.Leu1556=)
|
rs727503729
|
|
|
NM_206933.4(USH2A):c.4744C>T (p.Leu1582Phe)
|
rs866592573
|
|
|
NM_206933.4(USH2A):c.4758+1G>A
|
|
|
|
NM_206933.4(USH2A):c.4818dup (p.Trp1607fs)
|
rs1553300558
|
|
|
NM_206933.4(USH2A):c.4886-1G>A
|
rs1553300340
|
|
|
NM_206933.4(USH2A):c.4933G>T (p.Gly1645Ter)
|
rs2032147505
|
|
|
NM_206933.4(USH2A):c.4988-2A>G
|
rs143521854
|
|
|
NM_206933.4(USH2A):c.5047A>G (p.Asn1683Asp)
|
rs2102561202
|
|
|
NM_206933.4(USH2A):c.5083del (p.Ser1695fs)
|
rs1553300016
|
|
|
NM_206933.4(USH2A):c.5167+1G>T
|
rs794727408
|
|
|
NM_206933.4(USH2A):c.5167+4A>G
|
rs397518019
|
|
|
NM_206933.4(USH2A):c.5255T>G (p.Leu1752Trp)
|
rs1469348824
|
|
|
NM_206933.4(USH2A):c.5273A>G (p.Asn1758Ser)
|
|
|
|
NM_206933.4(USH2A):c.5282G>A (p.Gly1761Glu)
|
rs2102559662
|
|
|
NM_206933.4(USH2A):c.5356C>T (p.Gln1786Ter)
|
rs2102554503
|
|
|
NM_206933.4(USH2A):c.545_546del (p.Lys182fs)
|
rs780779563
|
|
|
NM_206933.4(USH2A):c.5471C>T (p.Ser1824Leu)
|
rs748792761
|
|
|
NM_206933.4(USH2A):c.5479G>A (p.Gly1827Arg)
|
|
|
|
NM_206933.4(USH2A):c.5504C>T (p.Ser1835Leu)
|
rs199645514
|
|
|
NM_206933.4(USH2A):c.5545_5554del (p.Ser1849fs)
|
rs1553299022
|
|
|
NM_206933.4(USH2A):c.5573-34del
|
rs35944387
|
|
|
NM_206933.4(USH2A):c.5653A>G (p.Arg1885Gly)
|
|
|
|
NM_206933.4(USH2A):c.5666A>G (p.Asp1889Gly)
|
rs775803174
|
|
|
NM_206933.4(USH2A):c.5708A>G (p.Asn1903Ser)
|
rs1162070622
|
|
|
NM_206933.4(USH2A):c.5726A>T (p.Tyr1909Phe)
|
rs761586978
|
|
|
NM_206933.4(USH2A):c.5737G>T (p.Glu1913Ter)
|
rs762837293
|
|
|
NM_206933.4(USH2A):c.5775A>G (p.Thr1925=)
|
rs747419030
|
|
|
NM_206933.4(USH2A):c.5777-2A>C
|
rs1064797136
|
|
|
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter)
|
rs397518021
|
|
|
NM_206933.4(USH2A):c.5813G>T (p.Gly1938Val)
|
rs2031607385
|
|
|
NM_206933.4(USH2A):c.5819T>C (p.Val1940Ala)
|
rs2031607129
|
|
|
NM_206933.4(USH2A):c.5858-1G>A
|
rs397518023
|
|
|
NM_206933.4(USH2A):c.5877del (p.Ser1961fs)
|
rs727505343
|
|
|
NM_206933.4(USH2A):c.5919G>A (p.Val1973=)
|
rs2102546199
|
|
|
NM_206933.4(USH2A):c.5959T>A (p.Tyr1987Asn)
|
rs747652397
|
|
|
NM_206933.4(USH2A):c.598G>C (p.Val200Leu)
|
rs781022362
|
|
|
NM_206933.4(USH2A):c.6047C>A (p.Thr2016Lys)
|
|
|
|
NM_206933.4(USH2A):c.6050-2A>G
|
rs772124060
|
|
|
NM_206933.4(USH2A):c.6083A>G (p.Tyr2028Cys)
|
|
|
|
NM_206933.4(USH2A):c.6087A>T (p.Ala2029=)
|
rs727503726
|
|
|
NM_206933.4(USH2A):c.6114T>C (p.Ala2038=)
|
rs1052386893
|
|
|
NM_206933.4(USH2A):c.6127_6128dup (p.Ser2043fs)
|
rs2030619513
|
|
|
NM_206933.4(USH2A):c.612dup (p.Arg205fs)
|
rs2039614529
|
|
|
NM_206933.4(USH2A):c.6131C>A (p.Ser2044Ter)
|
rs1209837469
|
|
|
NM_206933.4(USH2A):c.6134A>T (p.His2045Leu)
|
rs111033514
|
|
|
NM_206933.4(USH2A):c.6159del (p.Glu2054fs)
|
rs769838859
|
|
|
NM_206933.4(USH2A):c.6163G>A (p.Ala2055Thr)
|
rs768233523
|
|
|
NM_206933.4(USH2A):c.6167_6169del (p.Pro2056del)
|
rs776262139
|
|
|
NM_206933.4(USH2A):c.6178dup (p.Gln2060fs)
|
rs1553294144
|
|
|
NM_206933.4(USH2A):c.6253A>G (p.Ile2085Val)
|
|
|
|
NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer)
|
rs111033268
|
|
|
NM_206933.4(USH2A):c.6326-2A>G
|
rs1553287118
|
|
|
NM_206933.4(USH2A):c.6354del (p.Leu2119fs)
|
rs2102483305
|
|
|
NM_206933.4(USH2A):c.6366A>T (p.Ala2122=)
|
rs773734876
|
|
|
NM_206933.4(USH2A):c.6398G>A (p.Trp2133Ter)
|
rs727503725
|
|
|
NM_206933.4(USH2A):c.6485+1G>A
|
rs1553287070
|
|
|
NM_206933.4(USH2A):c.651+1G>A
|
rs1553257761
|
|
|
NM_206933.4(USH2A):c.6510T>G (p.Ser2170Arg)
|
rs373604102
|
|
|
NM_206933.4(USH2A):c.6511G>A (p.Gly2171Arg)
|
rs1668203744
|
|
|
NM_206933.4(USH2A):c.6513G>C (p.Gly2171=)
|
rs876657629
|
|
|
NM_206933.4(USH2A):c.6639A>G (p.Lys2213=)
|
rs1487136272
|
|
|
NM_206933.4(USH2A):c.6657+1G>A
|
rs1571876788
|
|
|
NM_206933.4(USH2A):c.6711C>T (p.Asp2237=)
|
rs138959688
|
|
|
NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu)
|
rs1057518826
|
|
|
NM_206933.4(USH2A):c.675_678del (p.Phe225fs)
|
rs2102708663
|
|
|
NM_206933.4(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp)
|
rs727503723
|
|
|
NM_206933.4(USH2A):c.6805+1G>T
|
rs1553285919
|
|
|
NM_206933.4(USH2A):c.6874C>T (p.Arg2292Cys)
|
rs727503722
|
|
|
NM_206933.4(USH2A):c.687C>A (p.Gly229=)
|
rs766740504
|
|
|
NM_206933.4(USH2A):c.6904_6920dup (p.Gln2307fs)
|
rs1667472317
|
|
|
NM_206933.4(USH2A):c.6905del (p.His2302fs)
|
rs2102458388
|
|
|
NM_206933.4(USH2A):c.6957+1G>C
|
rs2102458321
|
|
|
NM_206933.4(USH2A):c.6971C>T (p.Thr2324Ile)
|
rs1667318951
|
|
|
NM_206933.4(USH2A):c.7027del (p.Arg2343fs)
|
rs1667316878
|
|
|
NM_206933.4(USH2A):c.7028G>A (p.Arg2343Gln)
|
|
|
|
NM_206933.4(USH2A):c.706C>A (p.Pro236Thr)
|
rs762558966
|
|
|
NM_206933.4(USH2A):c.7075_7076del (p.Leu2359fs)
|
rs1667314337
|
|
|
NM_206933.4(USH2A):c.7100G>A (p.Gly2367Glu)
|
rs1017425051
|
|
|
NM_206933.4(USH2A):c.7121-14del
|
rs536181325
|
|
|
NM_206933.4(USH2A):c.7168G>T (p.Gly2390Ter)
|
rs376983577
|
|
|
NM_206933.4(USH2A):c.7194C>T (p.Leu2398=)
|
rs1269441158
|
|
|
NM_206933.4(USH2A):c.7225A>C (p.Thr2409Pro)
|
rs2102499658
|
|
|
NM_206933.4(USH2A):c.7238A>C (p.Asn2413Thr)
|
rs780840434
|
|
|
NM_206933.4(USH2A):c.7244C>G (p.Ser2415Ter)
|
rs397518029
|
|
|
NM_206933.4(USH2A):c.7340_7348del (p.Thr2447_Thr2449del)
|
rs1665478442
|
|
|
NM_206933.4(USH2A):c.7348A>C (p.Ser2450Arg)
|
|
|
|
NM_206933.4(USH2A):c.736A>G (p.Ile246Val)
|
rs746975879
|
|
|
NM_206933.4(USH2A):c.7397C>T (p.Ser2466Phe)
|
rs1665475399
|
|
|
NM_206933.4(USH2A):c.7452G>T (p.Glu2484Asp)
|
rs397518031
|
|
|
NM_206933.4(USH2A):c.7454T>A (p.Leu2485Ter)
|
rs2102469649
|
|
|
NM_206933.4(USH2A):c.7475C>A (p.Ser2492Ter)
|
rs483353056
|
|
|
NM_206933.4(USH2A):c.7493del (p.Ser2498fs)
|
rs1553274448
|
|
|
NM_206933.4(USH2A):c.7524del (p.Arg2509fs)
|
rs751176116
|
|
|
NM_206933.4(USH2A):c.7526G>A (p.Arg2509Gln)
|
|
|
|
NM_206933.4(USH2A):c.7568G>A (p.Trp2523Ter)
|
rs1553274424
|
|
|
NM_206933.4(USH2A):c.7595-1G>T
|
rs1553273421
|
|
|
NM_206933.4(USH2A):c.7595-2A>G
|
rs1064795047
|
|
|
NM_206933.4(USH2A):c.7620del (p.Leu2541fs)
|
rs1553273412
|
|
|
NM_206933.4(USH2A):c.7626G>C (p.Leu2542=)
|
rs577063450
|
|
|
NM_206933.4(USH2A):c.7633A>G (p.Lys2545Glu)
|
rs774559456
|
|
|
NM_206933.4(USH2A):c.7684G>T (p.Val2562Phe)
|
rs397518033
|
|
|
NM_206933.4(USH2A):c.7765C>G (p.His2589Asp)
|
rs747492773
|
|
|
NM_206933.4(USH2A):c.7770A>G (p.Leu2590=)
|
rs1665138334
|
|
|
NM_206933.4(USH2A):c.7862del (p.Pro2621fs)
|
rs2102460381
|
|
|
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter)
|
rs1571783742
|
|
|
NM_206933.4(USH2A):c.7939C>T (p.Pro2647Ser)
|
rs1414367127
|
|
|
NM_206933.4(USH2A):c.7999G>T (p.Glu2667Ter)
|
rs1301139848
|
|
|
NM_206933.4(USH2A):c.8079G>A (p.Trp2693Ter)
|
rs1553273330
|
|
|
NM_206933.4(USH2A):c.8126_8127dup (p.Asn2710fs)
|
rs768367348
|
|
|
NM_206933.4(USH2A):c.820C>G (p.Arg274Gly)
|
rs397518036
|
|
|
NM_206933.4(USH2A):c.820C>T (p.Arg274Ter)
|
rs397518036
|
|
|
NM_206933.4(USH2A):c.8240del (p.Pro2747fs)
|
rs1553272201
|
|
|
NM_206933.4(USH2A):c.8275A>G (p.Ile2759Val)
|
|
|
|
NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter)
|
rs1553250952
|
|
|
NM_206933.4(USH2A):c.8318C>T (p.Ser2773Phe)
|
rs1413784848
|
|
|
NM_206933.4(USH2A):c.8355T>G (p.Pro2785=)
|
rs2102451831
|
|
|
NM_206933.4(USH2A):c.836C>A (p.Ala279Glu)
|
rs2102658782
|
|
|
NM_206933.4(USH2A):c.838C>T (p.Leu280Phe)
|
rs2037760521
|
|
|
NM_206933.4(USH2A):c.8393G>C (p.Gly2798Ala)
|
rs886044303
|
|
|
NM_206933.4(USH2A):c.842C>A (p.Thr281Lys)
|
rs2037760415
|
|
|
NM_206933.4(USH2A):c.8499T>C (p.Ser2833=)
|
rs753719500
|
|
|
NM_206933.4(USH2A):c.852_853del
|
rs1188025733
|
|
|
NM_206933.4(USH2A):c.854T>C (p.Ile285Thr)
|
rs397518038
|
|
|
NM_206933.4(USH2A):c.8558+1G>T
|
rs770383273
|
|
|
NM_206933.4(USH2A):c.85T>A (p.Ser29Thr)
|
|
|
|
NM_206933.4(USH2A):c.8618T>G (p.Leu2873Ter)
|
rs2102450764
|
|
|
NM_206933.4(USH2A):c.8682-2A>C
|
rs1553271002
|
|
|
NM_206933.4(USH2A):c.8783G>A (p.Gly2928Glu)
|
|
|
|
NM_206933.4(USH2A):c.8787C>G (p.Ala2929=)
|
rs371183424
|
|
|
NM_206933.4(USH2A):c.8845+6_8845+9del
|
rs541344995
|
|
|
NM_206933.4(USH2A):c.8846-1G>T
|
rs771051185
|
|
|
NM_206933.4(USH2A):c.8917_8918del (p.Leu2973fs)
|
rs1553268582
|
|
|
NM_206933.4(USH2A):c.8992T>C (p.Ser2998Pro)
|
rs886043586
|
|
|
NM_206933.4(USH2A):c.9014G>C (p.Ser3005Thr)
|
rs1553268568
|
|
|
NM_206933.4(USH2A):c.9055+1G>A
|
rs1553268562
|
|
|
NM_206933.4(USH2A):c.9055+1del
|
rs1553268563
|
|
|
NM_206933.4(USH2A):c.907C>T (p.Arg303Cys)
|
|
|
|
NM_206933.4(USH2A):c.9119G>A (p.Trp3040Ter)
|
rs1269642027
|
|
|
NM_206933.4(USH2A):c.9127_9129del (p.Pro3043del)
|
rs760448755
|
|
|
NM_206933.4(USH2A):c.920_923dup (p.His308fs)
|
rs397518043
|
|
|
NM_206933.4(USH2A):c.9258+1G>T
|
rs748810737
|
|
|
NM_206933.4(USH2A):c.9270C>A (p.Cys3090Ter)
|
rs779572631
|
|
|
NM_206933.4(USH2A):c.9275T>G (p.Ile3092Arg)
|
rs373286445
|
|
|
NM_206933.4(USH2A):c.9335_9358del (p.Asp3112_Arg3119del)
|
rs773379163
|
|
|
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs)
|
rs536593247
|
|
|
NM_206933.4(USH2A):c.9402G>A (p.Arg3134=)
|
rs876657631
|
|
|
NM_206933.4(USH2A):c.9413G>C (p.Gly3138Ala)
|
rs756163056
|
|
|
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)
|
rs397518048
|
|
|
NM_206933.4(USH2A):c.9440G>A (p.Trp3147Ter)
|
rs1662880811
|
|
|
NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter)
|
rs73090721
|
|
|
NM_206933.4(USH2A):c.9473del (p.Lys3158fs)
|
rs2102796411
|
|
|
NM_206933.4(USH2A):c.950G>A (p.Arg317Gln)
|
rs760741238
|
|
|
NM_206933.4(USH2A):c.9527_9529del (p.Pro3176_Glu3177delinsGln)
|
rs1553265812
|
|
|
NM_206933.4(USH2A):c.9538del (p.Cys3180fs)
|
rs36108227
|
|
|
NM_206933.4(USH2A):c.9773G>A (p.Arg3258Gln)
|
|
|
|
NM_206933.4(USH2A):c.9803G>A (p.Cys3268Tyr)
|
rs1662225145
|
|
|
NM_206933.4(USH2A):c.9813G>T (p.Met3271Ile)
|
rs137876918
|
|
|
NM_206933.4(USH2A):c.9827C>G (p.Ser3276Ter)
|
rs863224941
|
|
|
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)
|
rs1388040238
|
|
|
NM_206933.4(USH2A):c.9874C>T (p.Gln3292Ter)
|
rs2102778615
|
|
|
NM_206933.4(USH2A):c.9885T>G (p.Cys3295Trp)
|
rs780036975
|
|
|
NM_206933.4(USH2A):c.993_994del (p.Arg331fs)
|
rs1571703801
|
|
|
NM_206933.4(USH2A):c.9962T>C (p.Met3321Thr)
|
rs2102770144
|
|
|
NM_206933.4(USH2A):c.9976C>T (p.Gln3326Ter)
|
rs1288381992
|
|
|
NM_206933.4(USH2A):c.999_1000dup (p.Arg334fs)
|
rs1571703770
|
|
|
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.139-164del
|
rs60388835
|
|
|
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.364-8del
|
rs146983312
|
|
|
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe)
|
rs7481951
|
|