NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=)
|
rs41287054
|
0.01682
|
NM_001134831.2(AHI1):c.1152-11T>G
|
rs113317693
|
0.01324
|
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=)
|
rs117195541
|
0.01237
|
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn)
|
rs35793208
|
0.01141
|
NM_032856.5(WDR73):c.336G>A (p.Gln112=)
|
rs73449331
|
0.00970
|
NM_032856.5(WDR73):c.41+262G>A
|
rs147776100
|
0.00888
|
NM_025114.4(CEP290):c.1624-5T>C
|
rs142742071
|
0.00704
|
NM_153704.6(TMEM67):c.506+18G>T
|
rs116705535
|
0.00585
|
NM_153704.6(TMEM67):c.507-19T>C
|
rs138589757
|
0.00344
|
NM_025114.4(CEP290):c.6960+10G>A
|
rs75011402
|
0.00305
|
NM_001329943.3(KIAA0586):c.4629G>A (p.Ser1543=)
|
rs61745066
|
0.00272
|
NM_153704.6(TMEM67):c.25G>A (p.Val9Met)
|
rs199961375
|
0.00225
|
NM_003383.5(VLDLR):c.2291C>T (p.Thr764Met)
|
rs56737058
|
0.00223
|
NM_001134831.2(AHI1):c.1404A>G (p.Glu468=)
|
rs36069919
|
0.00187
|
NM_001378615.1(CC2D2A):c.2181+7A>C
|
rs143681243
|
0.00124
|
NM_003383.5(VLDLR):c.1074C>T (p.Asn358=)
|
rs115059319
|
0.00116
|
NM_015272.5(RPGRIP1L):c.3701+19A>C
|
rs199926524
|
0.00099
|
NM_032856.5(WDR73):c.883+8C>T
|
rs200133030
|
0.00072
|
NM_015160.3(PMPCA):c.633+17G>A
|
rs142661443
|
0.00062
|
NM_001134831.2(AHI1):c.1533T>G (p.Val511=)
|
rs373669500
|
0.00058
|
NM_025114.4(CEP290):c.4705-18C>T
|
rs199751805
|
0.00052
|
NM_001134831.2(AHI1):c.3342A>G (p.Glu1114=)
|
rs199708272
|
0.00041
|
NM_153704.6(TMEM67):c.577-6A>G
|
rs191516556
|
0.00041
|
NM_001134831.2(AHI1):c.2418G>A (p.Leu806=)
|
rs201235386
|
0.00035
|
NM_001128178.3(NPHP1):c.836C>T (p.Thr279Met)
|
rs200201945
|
0.00033
|
NM_015272.5(RPGRIP1L):c.3249T>C (p.Ser1083=)
|
rs11860753
|
0.00030
|
NM_015272.5(RPGRIP1L):c.3702-16A>G
|
rs372739127
|
0.00030
|
NM_001134831.2(AHI1):c.1270A>G (p.Ile424Val)
|
rs562905902
|
0.00029
|
NM_153704.6(TMEM67):c.2439+17C>T
|
rs375852558
|
0.00029
|
NM_001378615.1(CC2D2A):c.4675-15G>A
|
rs377573053
|
0.00026
|
NM_025114.4(CEP290):c.4182G>A (p.Val1394=)
|
rs371530941
|
0.00024
|
NM_001134831.2(AHI1):c.136-8C>T
|
rs370834009
|
0.00021
|
NM_025114.4(CEP290):c.1918T>C (p.Leu640=)
|
rs541138095
|
0.00017
|
NM_001163809.2(WDR81):c.2304C>T (p.His768=)
|
rs994508298
|
0.00016
|
NM_015272.5(RPGRIP1L):c.2448G>A (p.Val816=)
|
rs140241814
|
0.00016
|
NM_001134831.2(AHI1):c.3588+15A>T
|
rs370223538
|
0.00015
|
NM_025114.4(CEP290):c.3135A>G (p.Lys1045=)
|
rs370622537
|
0.00014
|
NM_025114.4(CEP290):c.4317A>C (p.Thr1439=)
|
rs375966721
|
0.00014
|
NM_153704.6(TMEM67):c.192T>C (p.Pro64=)
|
rs150383995
|
0.00013
|
NM_015272.5(RPGRIP1L):c.1719C>T (p.Ala573=)
|
rs375774377
|
0.00012
|
NM_153704.6(TMEM67):c.312+13T>C
|
rs748077984
|
0.00012
|
NM_153704.6(TMEM67):c.312+14A>G
|
rs202135944
|
0.00012
|
NM_001134831.2(AHI1):c.135+19G>A
|
rs374973889
|
0.00011
|
NM_001134831.2(AHI1):c.82C>T (p.Arg28Cys)
|
rs199612496
|
0.00011
|
NM_025114.4(CEP290):c.6960+9C>T
|
rs373226012
|
0.00011
|
NM_025114.4(CEP290):c.93C>T (p.Ser31=)
|
rs375955381
|
0.00011
|
NM_001134831.2(AHI1):c.1149T>C (p.Asp383=)
|
rs371944986
|
0.00010
|
NM_015272.5(RPGRIP1L):c.2683+7C>T
|
rs768922800
|
0.00010
|
NM_025114.4(CEP290):c.4438-13T>C
|
rs528298900
|
0.00010
|
NM_032856.5(WDR73):c.33C>T (p.Ser11=)
|
rs376620550
|
0.00010
|
NM_001128178.3(NPHP1):c.1524A>G (p.Val508=)
|
rs146220435
|
0.00009
|
NM_001378615.1(CC2D2A):c.786C>T (p.Asp262=)
|
rs200434902
|
0.00009
|
NM_025114.4(CEP290):c.5012+10C>T
|
rs191369238
|
0.00009
|
NM_001134831.2(AHI1):c.573A>C (p.Ala191=)
|
rs200993978
|
0.00007
|
NM_001128178.3(NPHP1):c.69+20A>G
|
rs199941495
|
0.00006
|
NM_001134831.2(AHI1):c.1494A>G (p.Leu498=)
|
rs185249049
|
0.00006
|
NM_015272.5(RPGRIP1L):c.1260C>T (p.Leu420=)
|
rs760245904
|
0.00006
|
NM_025114.4(CEP290):c.189T>C (p.Ala63=)
|
rs996908777
|
0.00006
|
NM_025114.4(CEP290):c.6477T>A (p.Thr2159=)
|
rs556820066
|
0.00006
|
NM_032856.5(WDR73):c.267A>G (p.Leu89=)
|
rs772299478
|
0.00006
|
NM_153704.6(TMEM67):c.652-13T>C
|
rs376654537
|
0.00006
|
NM_001128178.3(NPHP1):c.558T>G (p.Pro186=)
|
rs372637635
|
0.00005
|
NM_001134831.2(AHI1):c.2037-7T>C
|
rs539801988
|
0.00005
|
NM_015272.5(RPGRIP1L):c.3701+14G>A
|
rs370009233
|
0.00005
|
NM_025114.4(CEP290):c.441+18T>C
|
rs756876705
|
0.00005
|
NM_025114.4(CEP290):c.6358-4G>A
|
rs369154492
|
0.00005
|
NM_001128178.3(NPHP1):c.1353-9C>A
|
rs376436841
|
0.00004
|
NM_001128178.3(NPHP1):c.772-11A>T
|
rs189649819
|
0.00004
|
NM_001134831.2(AHI1):c.3329-20A>G
|
rs1004117268
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1244-18G>A
|
rs923409583
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1582-11T>G
|
rs182981308
|
0.00004
|
NM_025114.4(CEP290):c.4809T>C (p.Ala1603=)
|
rs372592245
|
0.00004
|
NM_025114.4(CEP290):c.609C>T (p.Asp203=)
|
rs767725492
|
0.00004
|
NM_025114.4(CEP290):c.6271-15C>T
|
rs764251517
|
0.00004
|
NM_001128178.3(NPHP1):c.1722G>A (p.Ser574=)
|
rs778531895
|
0.00003
|
NM_001134831.2(AHI1):c.1917T>C (p.Tyr639=)
|
rs764412921
|
0.00003
|
NM_001134831.2(AHI1):c.3285G>A (p.Lys1095=)
|
rs1016306200
|
0.00003
|
NM_001134831.2(AHI1):c.931+8A>G
|
rs763944345
|
0.00003
|
NM_015272.5(RPGRIP1L):c.2875-19A>G
|
rs370091137
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3450G>T (p.Arg1150=)
|
rs762140481
|
0.00003
|
NM_025114.4(CEP290):c.1386C>T (p.Val462=)
|
rs886038689
|
0.00003
|
NM_025114.4(CEP290):c.3843A>G (p.Ala1281=)
|
rs777382672
|
0.00003
|
NM_025114.4(CEP290):c.442-20_442-19insA
|
rs772322663
|
0.00003
|
NM_001128178.3(NPHP1):c.1434C>T (p.His478=)
|
rs148809478
|
0.00002
|
NM_001134831.2(AHI1):c.2623+12T>C
|
rs763402338
|
0.00002
|
NM_001163809.2(WDR81):c.5607C>T (p.Ser1869=)
|
rs760895795
|
0.00002
|
NM_001382391.1(CSPP1):c.3645T>G (p.Thr1215=)
|
rs749332092
|
0.00002
|
NM_015272.5(RPGRIP1L):c.1770T>C (p.Ser590=)
|
rs966605945
|
0.00002
|
NM_015272.5(RPGRIP1L):c.231-4C>A
|
rs774628905
|
0.00002
|
NM_025114.4(CEP290):c.4881A>G (p.Glu1627=)
|
rs778794581
|
0.00002
|
NM_025114.4(CEP290):c.5211G>A (p.Lys1737=)
|
rs747996508
|
0.00002
|
NM_025114.4(CEP290):c.549C>T (p.Tyr183=)
|
rs781004914
|
0.00002
|
NM_153704.6(TMEM67):c.2440-6T>C
|
rs532418578
|
0.00002
|
NM_153704.6(TMEM67):c.979-16C>T
|
rs757127826
|
0.00002
|
NM_001128178.3(NPHP1):c.771+78G>A
|
rs762350912
|
0.00001
|
NM_001134831.2(AHI1):c.1683G>A (p.Val561=)
|
rs757056964
|
0.00001
|
NM_001134831.2(AHI1):c.1719C>T (p.Asp573=)
|
rs886038629
|
0.00001
|
NM_001134831.2(AHI1):c.190-17A>G
|
rs762843841
|
0.00001
|
NM_001134831.2(AHI1):c.2718A>G (p.Ala906=)
|
rs765434425
|
0.00001
|
NM_001163809.2(WDR81):c.1604G>A (p.Arg535His)
|
rs563732828
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1029+8C>T
|
rs367844249
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2522A>G (p.His841Arg)
|
rs766357656
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3616+9G>T
|
rs934455196
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3738C>T (p.Asp1246=)
|
rs1239622461
|
0.00001
|
NM_015272.5(RPGRIP1L):c.706T>C (p.Leu236=)
|
rs1266143274
|
0.00001
|
NM_015272.5(RPGRIP1L):c.882+12A>G
|
rs1264347960
|
0.00001
|
NM_025114.4(CEP290):c.102+13T>C
|
rs773325354
|
0.00001
|
NM_025114.4(CEP290):c.1712-9T>C
|
rs1412442444
|
0.00001
|
NM_025114.4(CEP290):c.1977G>A (p.Lys659=)
|
rs1313927656
|
0.00001
|
NM_025114.4(CEP290):c.2448T>C (p.Arg816=)
|
rs371851348
|
0.00001
|
NM_025114.4(CEP290):c.2587-19T>C
|
rs755086278
|
0.00001
|
NM_025114.4(CEP290):c.3435A>G (p.Glu1145=)
|
rs747972826
|
0.00001
|
NM_025114.4(CEP290):c.441+14T>G
|
rs765642954
|
0.00001
|
NM_025114.4(CEP290):c.4441C>T (p.Leu1481=)
|
rs1220385672
|
0.00001
|
NM_025114.4(CEP290):c.6027T>C (p.Leu2009=)
|
rs766355219
|
0.00001
|
NM_025114.4(CEP290):c.6150G>A (p.Glu2050=)
|
rs1175295227
|
0.00001
|
NM_025114.4(CEP290):c.6256T>C (p.Leu2086=)
|
rs374183249
|
0.00001
|
NM_025114.4(CEP290):c.6270+19A>G
|
rs1181927624
|
0.00001
|
NM_025114.4(CEP290):c.6642A>G (p.Lys2214=)
|
rs1409872235
|
0.00001
|
NM_025114.4(CEP290):c.6697T>C (p.Leu2233=)
|
rs755447230
|
0.00001
|
NM_025114.4(CEP290):c.7130-16A>G
|
rs1430895394
|
0.00001
|
NM_025114.4(CEP290):c.834C>T (p.Asn278=)
|
rs567493515
|
0.00001
|
NM_032856.5(WDR73):c.816T>C (p.Pro272=)
|
rs374742538
|
0.00001
|
NM_153704.6(TMEM67):c.1401A>G (p.Gln467=)
|
rs747752903
|
0.00001
|
NM_153704.6(TMEM67):c.1675-13T>A
|
rs144538020
|
0.00001
|
NM_153704.6(TMEM67):c.2440-11T>C
|
rs767482660
|
0.00001
|
NM_153704.6(TMEM67):c.2662-4T>C
|
rs374804519
|
0.00001
|
NM_153704.6(TMEM67):c.2765-4A>C
|
rs1242768505
|
0.00001
|
NM_153704.6(TMEM67):c.780C>T (p.Tyr260=)
|
rs966581270
|
0.00001
|
NM_153704.6(TMEM67):c.882T>C (p.Leu294=)
|
rs200110207
|
0.00001
|
NM_001044385.3(TMEM237):c.80-18dup
|
rs747217784
|
|
NM_001128178.3(NPHP1):c.1270-12C>T
|
rs772635725
|
|
NM_001128178.3(NPHP1):c.1530-4del
|
rs757295724
|
|
NM_001128178.3(NPHP1):c.859+8G>C
|
rs765856771
|
|
NM_001134831.2(AHI1):c.1516C>A (p.Arg506=)
|
rs371637724
|
|
NM_001134831.2(AHI1):c.2374-12del
|
rs766929085
|
|
NM_001134831.2(AHI1):c.406T>C (p.Leu136=)
|
rs1299907778
|
|
NM_015272.5(RPGRIP1L):c.1120C>T (p.His374Tyr)
|
rs200773352
|
|
NM_015272.5(RPGRIP1L):c.1699+14G>T
|
rs188075133
|
|
NM_015272.5(RPGRIP1L):c.1938C>T (p.Pro646=)
|
rs745879566
|
|
NM_015272.5(RPGRIP1L):c.1971C>T (p.Phe657=)
|
rs138669723
|
|
NM_015272.5(RPGRIP1L):c.206G>A (p.Arg69His)
|
rs574091991
|
|
NM_015272.5(RPGRIP1L):c.2349T>C (p.Asp783=)
|
rs1966518935
|
|
NM_015272.5(RPGRIP1L):c.237C>T (p.Ala79=)
|
rs1970448329
|
|
NM_015272.5(RPGRIP1L):c.2523T>C (p.His841=)
|
rs1598310040
|
|
NM_015272.5(RPGRIP1L):c.2865A>G (p.Thr955=)
|
rs2151058712
|
|
NM_015272.5(RPGRIP1L):c.999T>G (p.Ser333=)
|
rs1022259426
|
|
NM_025114.4(CEP290):c.251-11del
|
rs752284551
|
|
NM_025114.4(CEP290):c.2697A>G (p.Gln899=)
|
rs770769486
|
|
NM_025114.4(CEP290):c.4095A>G (p.Leu1365=)
|
rs1006145739
|
|
NM_025114.4(CEP290):c.442-23_442-20del
|
rs746139755
|
|
NM_025114.4(CEP290):c.4578G>A (p.Glu1526=)
|
rs775294433
|
|
NM_025114.4(CEP290):c.4599C>T (p.His1533=)
|
rs932264519
|
|
NM_025114.4(CEP290):c.4705-7A>G
|
rs1367159797
|
|
NM_025114.4(CEP290):c.5013-30CA[5]
|
rs759447937
|
|
NM_025114.4(CEP290):c.5227-23dup
|
rs747878752
|
|
NM_025114.4(CEP290):c.6135+10T>C
|
rs371097588
|
|
NM_025114.4(CEP290):c.6523-17_6523-15del
|
rs751359519
|
|
NM_025114.4(CEP290):c.670-13_670-12del
|
rs941686794
|
|
NM_025114.4(CEP290):c.7129+8A>G
|
rs2136623486
|
|
NM_025114.4(CEP290):c.99C>T (p.Ser33=)
|
rs866917306
|
|
NM_153704.6(TMEM67):c.1288+15C>T
|
rs1057523004
|
|
NM_153704.6(TMEM67):c.1675-10dup
|
rs752404927
|
|
NM_153704.6(TMEM67):c.313-13dup
|
rs367575555
|
|