NM_138694.4(PKHD1):c.1185T>C (p.Asp395=)
|
rs1896976
|
0.96234
|
NM_138694.4(PKHD1):c.2279+57A>G
|
rs9395759
|
0.96175
|
NM_138694.4(PKHD1):c.5608T>G (p.Leu1870Val)
|
rs2435322
|
0.95778
|
NM_153717.3(EVC):c.769C>T (p.Leu257=)
|
rs6446393
|
0.95639
|
NM_000277.3(PAH):c.1155C>G (p.Leu385=)
|
rs772897
|
0.84953
|
NM_174878.3(CLRN1):c.254-1924T>A
|
rs6764540
|
0.79708
|
NM_004004.6(GJB2):c.*84T>C
|
rs3751385
|
0.73662
|
NM_138694.4(PKHD1):c.8798-19A>C
|
rs1326605
|
0.73187
|
NM_153717.3(EVC):c.772T>C (p.Tyr258His)
|
rs6414624
|
0.72068
|
NM_138694.4(PKHD1):c.5909-46A>G
|
rs1266889
|
0.70194
|
NM_153717.3(EVC):c.939+10A>G
|
rs2286342
|
0.67122
|
NM_138694.4(PKHD1):c.10156+22412C>T
|
rs9349593
|
0.65024
|
NM_000277.3(PAH):c.696G>A (p.Gln232=)
|
rs1126758
|
0.64991
|
NM_153717.3(EVC):c.802-15C>T
|
rs4689313
|
0.60798
|
NM_138694.4(PKHD1):c.8108-217C>T
|
rs9474105
|
0.60763
|
NM_138694.4(PKHD1):c.8303-65C>A
|
rs7765455
|
0.57777
|
NM_153717.3(EVC):c.939+63C>A
|
rs13145958
|
0.55696
|
NM_174878.3(CLRN1):c.254-1947A>G
|
rs6801898
|
0.54588
|
NM_153717.3(EVC):c.1098+51A>T
|
rs4688961
|
0.52782
|
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_138694.4(PKHD1):c.11696A>G (p.Gln3899Arg)
|
rs4715227
|
0.52431
|
NM_138694.4(PKHD1):c.7587G>A (p.Gly2529=)
|
rs12210295
|
0.49949
|
NM_000231.3(SGCG):c.312T>G (p.Leu104=)
|
rs1800351
|
0.47318
|
NM_138694.4(PKHD1):c.3629-32A>G
|
rs2499480
|
0.46280
|
NM_138694.4(PKHD1):c.8302+12T>A
|
rs1571084
|
0.45597
|
NM_138694.4(PKHD1):c.8302+89A>T
|
rs1571083
|
0.45590
|
NM_138694.4(PKHD1):c.8173+144G>A
|
rs9474104
|
0.45513
|
NM_002454.3(MTRR):c.66A>G (p.Ile22Met)
|
rs1801394
|
0.44947
|
NM_138694.4(PKHD1):c.282-41A>G
|
rs1892274
|
0.43840
|
NM_138694.4(PKHD1):c.-84-47T>C
|
rs9370097
|
0.43816
|
NM_000232.5(SGCB):c.244-21T>C
|
rs225170
|
0.43577
|
NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln)
|
rs309370
|
0.42071
|
NM_138694.4(PKHD1):c.2278C>T (p.Arg760Cys)
|
rs9370096
|
0.41404
|
NM_138694.4(PKHD1):c.667+57G>A
|
rs17576809
|
0.41111
|
NM_138694.4(PKHD1):c.3785C>T (p.Ala1262Val)
|
rs9296669
|
0.41087
|
NM_138694.4(PKHD1):c.2407+50C>T
|
rs10948667
|
0.41035
|
NM_138694.4(PKHD1):c.602+67A>G
|
rs3936986
|
0.41008
|
NM_153717.3(EVC):c.969T>C (p.Asn323=)
|
rs4688963
|
0.40746
|
NM_138694.4(PKHD1):c.7215+102T>A
|
rs4711985
|
0.39765
|
NM_138694.4(PKHD1):c.7734-4T>C
|
rs7452724
|
0.39369
|
NM_138694.4(PKHD1):c.7733+63C>T
|
rs9382043
|
0.39367
|
NM_138694.4(PKHD1):c.7733+33C>T
|
rs9382044
|
0.39361
|
NM_138694.4(PKHD1):c.7764A>G (p.Leu2588=)
|
rs9349603
|
0.39323
|
NM_000277.3(PAH):c.441+47C>T
|
rs1718301
|
0.37849
|
NM_153717.3(EVC):c.1099-19T>C
|
rs899691
|
0.37351
|
NM_000277.3(PAH):c.969+43G>T
|
rs1522306
|
0.36369
|
NM_000277.3(PAH):c.60+134A>G
|
rs1522295
|
0.34771
|
NM_000277.3(PAH):c.60+62C>T
|
rs1522296
|
0.34408
|
NM_153717.3(EVC):c.939+4C>T
|
rs2286343
|
0.33466
|
NM_138694.4(PKHD1):c.8441-32G>C
|
rs3920621
|
0.33143
|
NM_138694.4(PKHD1):c.9998+49A>G
|
rs2397060
|
0.32325
|
NM_000277.3(PAH):c.510-54G>A
|
rs2251905
|
0.32128
|
NM_002454.3(MTRR):c.524C>T (p.Ser175Leu)
|
rs1532268
|
0.31601
|
NM_002454.3(MTRR):c.1911G>A (p.Ala637=)
|
rs1802059
|
0.31218
|
NM_138694.4(PKHD1):c.9237G>A (p.Ala3079=)
|
rs765525
|
0.30589
|
NM_138694.4(PKHD1):c.8643-72C>T
|
rs9370049
|
0.30583
|
NM_138694.4(PKHD1):c.234C>T (p.Asp78=)
|
rs9474143
|
0.29769
|
NM_138694.4(PKHD1):c.527+19T>C
|
rs9474140
|
0.27509
|
NM_153717.3(EVC):c.1563+1771A>G
|
rs6828631
|
0.27419
|
NM_153717.3(EVC):c.1068A>G (p.Leu356=)
|
rs33929747
|
0.26691
|
NM_000277.3(PAH):c.353-22C>T
|
rs2037639
|
0.23047
|
NM_002454.3(MTRR):c.284-64C>G
|
rs2303079
|
0.22681
|
NM_002454.3(MTRR):c.781-80G>A
|
rs162035
|
0.22379
|
NM_153717.3(EVC):c.939+114G>A
|
rs28609792
|
0.21365
|
NM_000277.3(PAH):c.168+19T>C
|
rs17842947
|
0.21168
|
NM_152618.3(BBS12):c.-10-41A>T
|
rs309368
|
0.21057
|
NM_002454.3(MTRR):c.537T>C (p.Leu179=)
|
rs161870
|
0.20980
|
NM_002454.3(MTRR):c.1049A>G (p.Lys350Arg)
|
rs162036
|
0.20973
|
NM_153717.3(EVC):c.801+240C>T
|
rs1480169
|
0.20327
|
NM_174878.3(CLRN1):c.254-2294A>C
|
rs11914988
|
0.20293
|
NM_153717.3(EVC):c.1465-47A>C
|
rs4642178
|
0.20086
|
NM_000277.3(PAH):c.735G>A (p.Val245=)
|
rs1042503
|
0.19782
|
NM_138694.4(PKHD1):c.8441-68T>C
|
rs7775050
|
0.19022
|
NM_152618.3(BBS12):c.1410C>T (p.Cys470=)
|
rs13135445
|
0.19015
|
NM_000277.3(PAH):c.509+101A>C
|
rs10860933
|
0.18689
|
NM_002454.3(MTRR):c.1783C>T (p.His595Tyr)
|
rs10380
|
0.18188
|
NM_002454.3(MTRR):c.1557+54T>C
|
rs16879356
|
0.17987
|
NM_153717.3(EVC):c.301-80G>A
|
rs2276875
|
0.17578
|
NM_153717.3(EVC):c.1563+1897C>T
|
rs56328334
|
0.16475
|
NM_002454.2(MTRR):c.-119T>C
|
rs72716536
|
0.16355
|
NM_152618.3(BBS12):c.1380G>C (p.Val460=)
|
rs13135766
|
0.16051
|
NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn)
|
rs13135778
|
0.15902
|
NM_152618.3(BBS12):c.1872A>G (p.Gln624=)
|
rs13102440
|
0.15807
|
NM_000231.3(SGCG):c.228T>C (p.Asp76=)
|
rs1800350
|
0.15152
|
NM_000231.3(SGCG):c.297+63A>C
|
rs4769246
|
0.14951
|
NM_138694.4(PKHD1):c.6490+62A>G
|
rs12196767
|
0.14660
|
NM_000277.3(PAH):c.-71A>C
|
rs2280615
|
0.14554
|
NM_138694.4(PKHD1):c.11786-30C>T
|
rs9395699
|
0.14058
|
NM_152618.3(BBS12):c.1398C>T (p.Gly466=)
|
rs2292493
|
0.13826
|
NM_138694.4(PKHD1):c.1234-10T>A
|
rs4715272
|
0.12902
|
NM_174878.3(CLRN1):c.57A>T (p.Ala19=)
|
rs3796242
|
0.12205
|
NM_000231.3(SGCG):c.386-30A>G
|
rs66844808
|
0.10864
|
NM_153717.3(EVC):c.249A>G (p.Ser83=)
|
rs35870680
|
0.09998
|
NM_000231.3(SGCG):c.347G>A (p.Arg116His)
|
rs17314986
|
0.09986
|
NM_138694.4(PKHD1):c.8173+101A>T
|
rs55777546
|
0.09629
|
NM_138694.4(PKHD1):c.214C>T (p.Leu72=)
|
rs6901799
|
0.09338
|
NM_153717.3(EVC):c.618-121G>A
|
rs75063475
|
0.09118
|
NM_153717.3(EVC):c.384+41C>T
|
rs113870218
|
0.08516
|
NM_000231.3(SGCG):c.505+83G>T
|
rs17374896
|
0.08156
|
NM_153717.3(EVC):c.221A>C (p.Gln74Pro)
|
rs2291157
|
0.07908
|
NM_138694.4(PKHD1):c.2046A>C (p.Pro682=)
|
rs4715271
|
0.07716
|
NM_138694.4(PKHD1):c.10521C>T (p.His3507=)
|
rs34460237
|
0.06613
|
NM_153717.3(EVC):c.1115C>T (p.Thr372Met)
|
rs28483498
|
0.06438
|
NM_153717.3(EVC):c.341C>T (p.Ala114Val)
|
rs16837598
|
0.05943
|
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu)
|
rs35676114
|
0.05430
|
NM_138694.4(PKHD1):c.8108-64G>A
|
rs12523926
|
0.05318
|
NM_138694.4(PKHD1):c.527+51G>T
|
rs62406055
|
0.05032
|
NM_138694.4(PKHD1):c.1587T>C (p.Asn529=)
|
rs62406036
|
0.05014
|
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser)
|
rs62406032
|
0.05010
|
NM_004004.6(GJB2):c.*168A>G
|
rs55704559
|
0.04011
|
NM_174878.3(CLRN1):c.433+1105C>T
|
rs16846663
|
0.03733
|
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=)
|
rs1266923
|
0.03202
|
NM_000277.3(PAH):c.-81C>T
|
rs7954004
|
0.02852
|
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met)
|
rs45500692
|
0.02436
|
NM_004004.6(GJB2):c.79G>A (p.Val27Ile)
|
rs2274084
|
0.02218
|
NM_138694.4(PKHD1):c.1694-32C>G
|
rs12196276
|
0.02096
|
NM_138694.4(PKHD1):c.5236+14A>G
|
rs12210725
|
0.01912
|
NM_001384140.1(PCDH15):c.546A>G (p.Gly182=)
|
rs34164469
|
0.01517
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
NM_153717.3(EVC):c.385-16C>T
|
rs113571700
|
0.00995
|
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=)
|
rs1800135
|
0.00660
|
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg)
|
rs142645936
|
0.00585
|
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser)
|
rs55638457
|
0.00545
|
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)
|
rs147099630
|
0.00521
|
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly)
|
rs2274083
|
0.00499
|
NM_017739.4(POMGNT1):c.-11G>A
|
rs80107141
|
0.00484
|
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=)
|
rs34211419
|
0.00473
|
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=)
|
rs111033516
|
0.00401
|
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His)
|
rs142905621
|
0.00275
|
NM_031885.5(BBS2):c.1422G>A (p.Ser474=)
|
rs117033008
|
0.00250
|
NM_004004.6(GJB2):c.457G>A (p.Val153Ile)
|
rs111033186
|
0.00247
|
NM_001378454.1(ALMS1):c.9822C>G (p.Thr3274=)
|
rs201446579
|
0.00245
|
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys)
|
rs35689779
|
0.00239
|
NM_153676.4(USH1C):c.403G>A (p.Val135Ile)
|
rs145013633
|
0.00234
|
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=)
|
rs139815340
|
0.00230
|
NM_022124.6(CDH23):c.4068C>G (p.Thr1356=)
|
rs143136329
|
0.00226
|
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)
|
rs1800111
|
0.00208
|
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val)
|
rs36061856
|
0.00198
|
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln)
|
rs149304901
|
0.00187
|
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)
|
rs201838492
|
0.00133
|
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val)
|
rs146739496
|
0.00111
|
NM_022124.6(CDH23):c.510C>T (p.Ser170=)
|
rs143341423
|
0.00096
|
NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala)
|
rs145017164
|
0.00081
|
NM_000023.4(SGCA):c.843C>A (p.Ala281=)
|
rs149487996
|
0.00080
|
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His)
|
rs200641606
|
0.00073
|
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val)
|
rs139306706
|
0.00073
|
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys)
|
rs149916178
|
0.00054
|
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser)
|
rs111033363
|
0.00054
|
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys)
|
rs146264950
|
0.00043
|
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=)
|
rs143737660
|
0.00038
|
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)
|
rs1800103
|
0.00034
|
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly)
|
rs184779459
|
0.00032
|
NM_000271.5(NPC1):c.3717C>T (p.His1239=)
|
rs34624018
|
0.00030
|
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met)
|
rs141650598
|
0.00028
|
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu)
|
rs144600401
|
0.00028
|
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg)
|
rs149798764
|
0.00024
|
NM_014363.6(SACS):c.4302A>G (p.Leu1434=)
|
rs34559250
|
0.00016
|
NM_000057.4(BLM):c.274A>G (p.Asn92Asp)
|
rs200690226
|
0.00015
|
NM_014363.6(SACS):c.3345C>T (p.Val1115=)
|
rs143287019
|
0.00015
|
NM_000070.3(CAPN3):c.897C>A (p.Leu299=)
|
rs370313391
|
0.00013
|
NM_001384140.1(PCDH15):c.1900G>A (p.Val634Ile)
|
rs146199636
|
0.00013
|
NM_000070.3(CAPN3):c.1984G>T (p.Ala662Ser)
|
rs187054121
|
0.00011
|
NM_206933.4(USH2A):c.13478G>A (p.Arg4493His)
|
rs138879998
|
0.00011
|
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys)
|
rs142920240
|
0.00007
|
NM_001378454.1(ALMS1):c.11748G>A (p.Glu3916=)
|
rs373364340
|
0.00007
|
NM_000057.4(BLM):c.2898C>G (p.Leu966=)
|
rs201220226
|
0.00006
|
NM_000070.3(CAPN3):c.1585G>A (p.Ala529Thr)
|
rs138857720
|
0.00006
|
NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter)
|
rs776962899
|
0.00006
|
NM_004004.6(GJB2):c.23C>T (p.Thr8Met)
|
rs529500747
|
0.00006
|
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)
|
rs376898963
|
0.00006
|
NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile)
|
rs397517321
|
0.00006
|
NM_152618.3(BBS12):c.1198G>A (p.Val400Met)
|
rs771136797
|
0.00005
|
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys)
|
rs55880859
|
0.00004
|
NM_000360.4(TH):c.599G>A (p.Arg200His)
|
rs201224335
|
0.00004
|
NM_206933.4(USH2A):c.1530C>T (p.Asp510=)
|
rs200940197
|
0.00004
|
NM_000232.5(SGCB):c.667C>T (p.Arg223Cys)
|
rs570232197
|
0.00003
|
NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val)
|
rs111033511
|
0.00003
|
NM_000260.4(MYO7A):c.6236G>A (p.Arg2079Gln)
|
rs765083332
|
0.00003
|
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter)
|
rs747349942
|
0.00003
|
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu)
|
rs397516878
|
0.00003
|
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp)
|
rs368496658
|
0.00003
|
NM_000277.3(PAH):c.1218A>G (p.Ile406Met)
|
rs773526027
|
0.00002
|
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly)
|
rs893497345
|
0.00002
|
NM_000070.3(CAPN3):c.1947G>A (p.Glu649=)
|
rs79440238
|
0.00001
|
NM_020632.3(ATP6V0A4):c.2257+1G>A
|
rs145809731
|
0.00001
|
NM_000091.5(COL4A3):c.1863A>G (p.Gln621=)
|
rs771390525
|
|
NM_000260.4(MYO7A):c.4207G>T (p.Glu1403Ter)
|
rs916332384
|
|
NM_000329.3(RPE65):c.1451-1G>A
|
rs1317871521
|
|
NM_000492.4(CFTR):c.1950C>A (p.Phe650Leu)
|
rs200204024
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
NM_001378789.1(CERS3):c.540G>A (p.Trp180Ter)
|
|
|
NM_002454.3(MTRR):c.1875G>A (p.Val625=)
|
rs12347
|
|
NM_004447.6(EPS8):c.1424T>G (p.Leu475Ter)
|
rs2135785787
|
|
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu)
|
rs144179865
|
|
NM_017777.4(MKS1):c.763G>C (p.Gly255Arg)
|
rs201237547
|
|
NM_025114.4(CEP290):c.2390del (p.Lys797fs)
|
rs781670422
|
|
NM_138694.4(PKHD1):c.707+143A>C
|
rs4711996
|
|
NM_138694.4(PKHD1):c.7486+41C>A
|
rs982874
|
|
NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys)
|
rs759568939
|
|
NM_153717.3(EVC):c.1099-167G>C
|
rs6810769
|
|
NM_153717.3(EVC):c.1099-208C>T
|
rs6812234
|
|
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys)
|
rs2302075
|
|
NM_153717.3(EVC):c.1563+185A>G
|
rs12499655
|
|
NM_153717.3(EVC):c.1563+216C>A
|
rs1194963469
|
|
NM_206933.4(USH2A):c.8992T>C (p.Ser2998Pro)
|
rs886043586
|
|