NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln)
|
rs187003641
|
0.00142
|
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His)
|
rs140446520
|
0.00127
|
NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr)
|
rs114250691
|
0.00121
|
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu)
|
rs137982921
|
0.00094
|
NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile)
|
rs79524027
|
0.00092
|
NM_001378615.1(CC2D2A):c.3869T>C (p.Val1290Ala)
|
rs200427832
|
0.00073
|
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg)
|
rs200764366
|
0.00067
|
NM_025114.4(CEP290):c.1670G>A (p.Arg557His)
|
rs184018899
|
0.00064
|
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys)
|
rs151332923
|
0.00061
|
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln)
|
rs151212590
|
0.00060
|
NM_001378615.1(CC2D2A):c.2945G>A (p.Arg982His)
|
rs150093365
|
0.00057
|
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala)
|
rs762918371
|
0.00052
|
NM_001378615.1(CC2D2A):c.3577A>G (p.Ile1193Val)
|
rs188891842
|
0.00051
|
NM_025114.4(CEP290):c.2667G>T (p.Leu889Phe)
|
rs142038791
|
0.00049
|
NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys)
|
rs144023021
|
0.00042
|
NM_001378615.1(CC2D2A):c.4729G>A (p.Ala1577Thr)
|
rs199695154
|
0.00039
|
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val)
|
rs201569048
|
0.00036
|
NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys)
|
rs143863631
|
0.00033
|
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp)
|
rs201353893
|
0.00031
|
NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His)
|
rs147366111
|
0.00030
|
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg)
|
rs201504946
|
0.00030
|
NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met)
|
rs201954181
|
0.00026
|
NM_015272.5(RPGRIP1L):c.2399A>C (p.Asn800Thr)
|
rs147734438
|
0.00026
|
NM_015272.5(RPGRIP1L):c.3658A>G (p.Ile1220Val)
|
rs147046186
|
0.00026
|
NM_025114.4(CEP290):c.1742A>C (p.Glu581Ala)
|
rs77579747
|
0.00025
|
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp)
|
rs146584570
|
0.00024
|
NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn)
|
rs201982308
|
0.00024
|
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys)
|
rs374852145
|
0.00024
|
NM_001128178.3(NPHP1):c.771+89A>G
|
rs139787582
|
0.00023
|
NM_001378615.1(CC2D2A):c.4852C>T (p.Arg1618Cys)
|
rs201219078
|
0.00023
|
NM_025114.4(CEP290):c.2615C>T (p.Ser872Leu)
|
rs373341530
|
0.00023
|
NM_001128178.3(NPHP1):c.771+2C>T
|
rs189320299
|
0.00022
|
NM_001378615.1(CC2D2A):c.2560T>G (p.Trp854Gly)
|
rs747204358
|
0.00021
|
NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys)
|
rs148230131
|
0.00021
|
NM_015272.5(RPGRIP1L):c.3719T>C (p.Val1240Ala)
|
rs201248643
|
0.00021
|
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly)
|
rs184323010
|
0.00020
|
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp)
|
rs200969981
|
0.00019
|
NM_001128178.3(NPHP1):c.2007G>A (p.Leu669=)
|
rs151120697
|
0.00018
|
NM_025114.4(CEP290):c.4360G>A (p.Glu1454Lys)
|
rs369902368
|
0.00018
|
NM_001378615.1(CC2D2A):c.3135G>A (p.Val1045=)
|
rs371608031
|
0.00015
|
NM_001378615.1(CC2D2A):c.3751G>A (p.Gly1251Arg)
|
rs368180778
|
0.00014
|
NM_015272.5(RPGRIP1L):c.1709A>G (p.Lys570Arg)
|
rs111459222
|
0.00014
|
NM_015272.5(RPGRIP1L):c.3690G>A (p.Met1230Ile)
|
rs141838831
|
0.00014
|
NM_025114.4(CEP290):c.1384G>A (p.Val462Ile)
|
rs374199052
|
0.00013
|
NM_025114.4(CEP290):c.5338G>A (p.Val1780Ile)
|
rs368492668
|
0.00013
|
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)
|
rs200587974
|
0.00013
|
NM_001128178.3(NPHP1):c.599G>A (p.Gly200Asp)
|
rs373951297
|
0.00012
|
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val)
|
rs183071230
|
0.00012
|
NM_025114.4(CEP290):c.904A>G (p.Ile302Val)
|
rs764495570
|
0.00012
|
NM_015272.5(RPGRIP1L):c.1081A>G (p.Asn361Asp)
|
rs376720589
|
0.00011
|
NM_025114.4(CEP290):c.2473G>A (p.Glu825Lys)
|
rs779666225
|
0.00011
|
NM_025114.4(CEP290):c.6142G>C (p.Gly2048Arg)
|
rs377000187
|
0.00011
|
NM_025114.4(CEP290):c.6572A>T (p.His2191Leu)
|
rs368428115
|
0.00011
|
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His)
|
rs371833544
|
0.00011
|
NM_001128178.3(NPHP1):c.805G>A (p.Gly269Arg)
|
rs768608137
|
0.00010
|
NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys)
|
rs201439617
|
0.00010
|
NM_025114.4(CEP290):c.3773A>G (p.Asn1258Ser)
|
rs200830750
|
0.00010
|
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=)
|
rs371582975
|
0.00010
|
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys)
|
rs373307908
|
0.00010
|
NM_001128178.3(NPHP1):c.493G>A (p.Ala165Thr)
|
rs377676279
|
0.00009
|
NM_001128178.3(NPHP1):c.61A>G (p.Lys21Glu)
|
rs1033790263
|
0.00009
|
NM_001378615.1(CC2D2A):c.2624C>T (p.Ser875Leu)
|
rs200904521
|
0.00009
|
NM_015272.5(RPGRIP1L):c.1333A>G (p.Ile445Val)
|
rs140876280
|
0.00009
|
NM_015272.5(RPGRIP1L):c.1419A>C (p.Lys473Asn)
|
rs769686672
|
0.00009
|
NM_015272.5(RPGRIP1L):c.1603C>T (p.Arg535Cys)
|
rs149781516
|
0.00009
|
NM_015272.5(RPGRIP1L):c.1946G>A (p.Arg649Gln)
|
rs560144848
|
0.00009
|
NM_015272.5(RPGRIP1L):c.2932G>A (p.Val978Met)
|
rs367845452
|
0.00009
|
NM_015272.5(RPGRIP1L):c.962G>A (p.Arg321His)
|
rs183419371
|
0.00009
|
NM_025114.4(CEP290):c.2098C>T (p.His700Tyr)
|
rs369104382
|
0.00009
|
NM_025114.4(CEP290):c.4577A>T (p.Glu1526Val)
|
rs760625332
|
0.00009
|
NM_001128178.3(NPHP1):c.1058G>A (p.Arg353His)
|
rs766289967
|
0.00008
|
NM_015272.5(RPGRIP1L):c.2390G>T (p.Arg797Ile)
|
rs892392514
|
0.00008
|
NM_015272.5(RPGRIP1L):c.292G>A (p.Gly98Ser)
|
rs202124667
|
0.00008
|
NM_025114.4(CEP290):c.4343C>G (p.Pro1448Arg)
|
rs757356455
|
0.00008
|
NM_025114.4(CEP290):c.6986A>G (p.Glu2329Gly)
|
rs772648931
|
0.00008
|
NM_025114.4(CEP290):c.974T>C (p.Ile325Thr)
|
rs769705837
|
0.00008
|
NM_015272.5(RPGRIP1L):c.217G>C (p.Asp73His)
|
rs369451829
|
0.00007
|
NM_015272.5(RPGRIP1L):c.2914G>A (p.Asp972Asn)
|
rs138777811
|
0.00007
|
NM_025114.4(CEP290):c.3778G>A (p.Ala1260Thr)
|
rs375609644
|
0.00007
|
NM_025114.4(CEP290):c.5395T>G (p.Leu1799Val)
|
rs1289111857
|
0.00007
|
NM_001128178.3(NPHP1):c.202A>C (p.Lys68Gln)
|
rs748557384
|
0.00006
|
NM_001378615.1(CC2D2A):c.932A>G (p.Asp311Gly)
|
rs375247004
|
0.00006
|
NM_015272.5(RPGRIP1L):c.1280T>C (p.Leu427Pro)
|
rs150099624
|
0.00006
|
NM_015272.5(RPGRIP1L):c.1592A>G (p.Glu531Gly)
|
rs794727129
|
0.00006
|
NM_015272.5(RPGRIP1L):c.466C>T (p.Arg156Cys)
|
rs527539036
|
0.00006
|
NM_025114.4(CEP290):c.4063C>T (p.Arg1355Cys)
|
rs376425111
|
0.00006
|
NM_025114.4(CEP290):c.755A>T (p.Lys252Met)
|
rs991079890
|
0.00006
|
NM_001128178.3(NPHP1):c.1589G>A (p.Arg530Gln)
|
rs534052463
|
0.00005
|
NM_015272.5(RPGRIP1L):c.1029+3A>C
|
rs778583149
|
0.00005
|
NM_015272.5(RPGRIP1L):c.1631A>G (p.Tyr544Cys)
|
rs139964287
|
0.00005
|
NM_015272.5(RPGRIP1L):c.821A>T (p.Gln274Leu)
|
rs141574764
|
0.00005
|
NM_015272.5(RPGRIP1L):c.910G>A (p.Asp304Asn)
|
rs530772984
|
0.00005
|
NM_025114.4(CEP290):c.4865G>A (p.Arg1622His)
|
rs758453972
|
0.00005
|
NM_001128178.3(NPHP1):c.1252A>G (p.Ile418Val)
|
rs577560349
|
0.00004
|
NM_001128178.3(NPHP1):c.1649T>C (p.Ile550Thr)
|
rs143231282
|
0.00004
|
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln)
|
rs780427871
|
0.00004
|
NM_001128178.3(NPHP1):c.1960G>A (p.Gly654Arg)
|
rs781531545
|
0.00004
|
NM_001128178.3(NPHP1):c.912A>G (p.Gln304=)
|
rs794726975
|
0.00004
|
NM_001128178.3(NPHP1):c.941C>G (p.Ala314Gly)
|
rs375317119
|
0.00004
|
NM_001378615.1(CC2D2A):c.298A>C (p.Met100Leu)
|
rs370014549
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1061A>G (p.Glu354Gly)
|
rs752128105
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1886C>T (p.Pro629Leu)
|
rs374098422
|
0.00004
|
NM_015272.5(RPGRIP1L):c.2167A>G (p.Ile723Val)
|
rs769280712
|
0.00004
|
NM_015272.5(RPGRIP1L):c.2815G>A (p.Glu939Lys)
|
rs371763050
|
0.00004
|
NM_015272.5(RPGRIP1L):c.341A>G (p.Gln114Arg)
|
rs201413825
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3448C>T (p.Arg1150Trp)
|
rs750930363
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3717G>A (p.Val1239=)
|
rs989489575
|
0.00004
|
NM_025114.4(CEP290):c.1945G>A (p.Glu649Lys)
|
rs761705359
|
0.00004
|
NM_025114.4(CEP290):c.2218A>G (p.Ile740Val)
|
rs754736974
|
0.00004
|
NM_025114.4(CEP290):c.3028A>G (p.Ile1010Val)
|
rs1038566350
|
0.00004
|
NM_025114.4(CEP290):c.3230A>G (p.Gln1077Arg)
|
rs200668620
|
0.00004
|
NM_025114.4(CEP290):c.3758G>A (p.Arg1253His)
|
rs763801479
|
0.00004
|
NM_025114.4(CEP290):c.3791G>A (p.Arg1264His)
|
rs774144082
|
0.00004
|
NM_025114.4(CEP290):c.4064G>A (p.Arg1355His)
|
rs548558619
|
0.00004
|
NM_025114.4(CEP290):c.4523G>A (p.Arg1508Gln)
|
rs568197175
|
0.00004
|
NM_025114.4(CEP290):c.814G>A (p.Asp272Asn)
|
rs866480852
|
0.00004
|
NM_001128178.3(NPHP1):c.50A>G (p.Asn17Ser)
|
rs200480007
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1154T>G (p.Leu385Arg)
|
rs750446830
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1480T>G (p.Ser494Ala)
|
rs202201818
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1721A>G (p.Tyr574Cys)
|
rs766404857
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1939G>A (p.Val647Ile)
|
rs145572901
|
0.00003
|
NM_015272.5(RPGRIP1L):c.2161G>A (p.Gly721Arg)
|
rs780023355
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3203A>G (p.Glu1068Gly)
|
rs372404481
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3331G>A (p.Ala1111Thr)
|
rs973841786
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3355C>T (p.Arg1119Cys)
|
rs1030543863
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3715G>A (p.Val1239Met)
|
rs142387463
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3769G>A (p.Val1257Met)
|
rs536037779
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser)
|
rs377402117
|
0.00003
|
NM_015272.5(RPGRIP1L):c.854T>C (p.Met285Thr)
|
rs772520453
|
0.00003
|
NM_025114.4(CEP290):c.1359G>A (p.Ser453=)
|
rs779195306
|
0.00003
|
NM_025114.4(CEP290):c.1387G>A (p.Val463Ile)
|
rs558414868
|
0.00003
|
NM_025114.4(CEP290):c.2447G>A (p.Arg816His)
|
rs768448895
|
0.00003
|
NM_025114.4(CEP290):c.3178A>G (p.Thr1060Ala)
|
rs948383352
|
0.00003
|
NM_025114.4(CEP290):c.3593C>T (p.Ser1198Leu)
|
rs372640024
|
0.00003
|
NM_025114.4(CEP290):c.4121A>G (p.Tyr1374Cys)
|
rs1337676817
|
0.00003
|
NM_025114.4(CEP290):c.4837C>G (p.Pro1613Ala)
|
rs769280708
|
0.00003
|
NM_025114.4(CEP290):c.514A>C (p.Lys172Gln)
|
rs765944337
|
0.00003
|
NM_025114.4(CEP290):c.5552A>T (p.Lys1851Ile)
|
rs372565248
|
0.00003
|
NM_025114.4(CEP290):c.5753G>T (p.Trp1918Leu)
|
rs371737956
|
0.00003
|
NM_025114.4(CEP290):c.7070A>G (p.Glu2357Gly)
|
rs759725378
|
0.00003
|
NM_001128178.3(NPHP1):c.1541A>G (p.Glu514Gly)
|
rs755592231
|
0.00002
|
NM_001128178.3(NPHP1):c.1617A>G (p.Lys539=)
|
rs1266229950
|
0.00002
|
NM_001128178.3(NPHP1):c.1643-3C>T
|
rs202167187
|
0.00002
|
NM_001128178.3(NPHP1):c.2018G>A (p.Arg673Lys)
|
rs753549193
|
0.00002
|
NM_001128178.3(NPHP1):c.242G>A (p.Arg81Lys)
|
rs762244069
|
0.00002
|
NM_001128178.3(NPHP1):c.460G>A (p.Gly154Ser)
|
rs769509705
|
0.00002
|
NM_001128178.3(NPHP1):c.872G>A (p.Arg291Gln)
|
rs751387472
|
0.00002
|
NM_001378615.1(CC2D2A):c.1994A>G (p.Gln665Arg)
|
rs1718235188
|
0.00002
|
NM_015272.5(RPGRIP1L):c.1604G>A (p.Arg535His)
|
rs371028848
|
0.00002
|
NM_015272.5(RPGRIP1L):c.1772T>C (p.Val591Ala)
|
rs201131571
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2118A>C (p.Lys706Asn)
|
rs759934290
|
0.00002
|
NM_015272.5(RPGRIP1L):c.302G>A (p.Arg101Gln)
|
rs146484603
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3449G>A (p.Arg1150Gln)
|
rs376330325
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3707G>A (p.Arg1236His)
|
rs1410635948
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3835+3A>G
|
rs769218955
|
0.00002
|
NM_025114.4(CEP290):c.1235C>T (p.Thr412Met)
|
rs189280108
|
0.00002
|
NM_025114.4(CEP290):c.1460A>G (p.Asn487Ser)
|
rs1331263277
|
0.00002
|
NM_025114.4(CEP290):c.2167C>T (p.Arg723Trp)
|
rs372963403
|
0.00002
|
NM_025114.4(CEP290):c.2273T>C (p.Val758Ala)
|
rs369868981
|
0.00002
|
NM_025114.4(CEP290):c.3238T>G (p.Tyr1080Asp)
|
rs750466529
|
0.00002
|
NM_025114.4(CEP290):c.3410G>A (p.Arg1137Gln)
|
rs774900495
|
0.00002
|
NM_025114.4(CEP290):c.4030-14A>G
|
rs910563325
|
0.00002
|
NM_025114.4(CEP290):c.5285G>A (p.Arg1762His)
|
rs761763799
|
0.00002
|
NM_025114.4(CEP290):c.6571C>G (p.His2191Asp)
|
rs769798212
|
0.00002
|
NM_025114.4(CEP290):c.7169C>G (p.Thr2390Arg)
|
rs776216960
|
0.00002
|
NM_025114.4(CEP290):c.739G>A (p.Val247Ile)
|
rs1409885182
|
0.00002
|
NM_001128178.3(NPHP1):c.1009A>C (p.Met337Leu)
|
rs780706360
|
0.00001
|
NM_001128178.3(NPHP1):c.1016C>G (p.Pro339Arg)
|
rs746482479
|
0.00001
|
NM_001128178.3(NPHP1):c.1402G>A (p.Glu468Lys)
|
rs1186755904
|
0.00001
|
NM_001128178.3(NPHP1):c.1448A>G (p.Tyr483Cys)
|
rs1283995363
|
0.00001
|
NM_001128178.3(NPHP1):c.1523T>G (p.Val508Gly)
|
rs951115963
|
0.00001
|
NM_001128178.3(NPHP1):c.1837C>T (p.Arg613Cys)
|
rs543675502
|
0.00001
|
NM_001128178.3(NPHP1):c.1895T>C (p.Ile632Thr)
|
rs1212945698
|
0.00001
|
NM_001128178.3(NPHP1):c.368G>A (p.Ser123Asn)
|
rs781291281
|
0.00001
|
NM_001128178.3(NPHP1):c.604G>C (p.Val202Leu)
|
rs753605280
|
0.00001
|
NM_001128178.3(NPHP1):c.771+3G>A
|
rs1365022834
|
0.00001
|
NM_001128178.3(NPHP1):c.817G>A (p.Ala273Thr)
|
rs751003854
|
0.00001
|
NM_001378615.1(CC2D2A):c.832C>T (p.Arg278Trp)
|
rs372873919
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1010C>T (p.Ser337Phe)
|
rs747867189
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1064G>A (p.Arg355Gln)
|
rs758759988
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1143G>C (p.Lys381Asn)
|
rs949199630
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1289A>T (p.Gln430Leu)
|
rs770032567
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1329A>C (p.Lys443Asn)
|
rs777834264
|
0.00001
|
NM_015272.5(RPGRIP1L):c.144G>C (p.Glu48Asp)
|
rs377512064
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1574A>G (p.Asp525Gly)
|
rs371841392
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1636C>T (p.Leu546Phe)
|
rs147331527
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1657C>A (p.His553Asn)
|
rs145516192
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1681C>T (p.Arg561Cys)
|
rs781713688
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1785T>A (p.Asp595Glu)
|
rs775017742
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1809C>T (p.Gly603=)
|
rs375766769
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1867G>C (p.Ala623Pro)
|
rs776297522
|
0.00001
|
NM_015272.5(RPGRIP1L):c.205C>T (p.Arg69Cys)
|
rs775007896
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2301G>T (p.Gln767His)
|
rs1338012833
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2351C>G (p.Ser784Cys)
|
rs1196015536
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2408A>G (p.Gln803Arg)
|
rs1966513057
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2474A>G (p.His825Arg)
|
rs752772082
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2579C>G (p.Ser860Cys)
|
rs768030202
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2590T>C (p.Tyr864His)
|
rs1480250597
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3116A>G (p.Gln1039Arg)
|
rs181022346
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3301G>A (p.Ala1101Thr)
|
rs539084201
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3432+6T>G
|
rs543688285
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3541C>A (p.Leu1181Ile)
|
rs905516252
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3778G>A (p.Val1260Ile)
|
rs781401167
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3809G>A (p.Arg1270Lys)
|
rs1963624413
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3818T>C (p.Ile1273Thr)
|
rs764832127
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3824A>G (p.Gln1275Arg)
|
rs776310931
|
0.00001
|
NM_015272.5(RPGRIP1L):c.502G>A (p.Ala168Thr)
|
rs780770984
|
0.00001
|
NM_015272.5(RPGRIP1L):c.611C>A (p.Ala204Asp)
|
rs769611947
|
0.00001
|
NM_015272.5(RPGRIP1L):c.747G>C (p.Gln249His)
|
rs1970020650
|
0.00001
|
NM_015272.5(RPGRIP1L):c.788G>A (p.Arg263Gln)
|
rs916661298
|
0.00001
|
NM_025114.4(CEP290):c.1169A>G (p.Asn390Ser)
|
rs891165640
|
0.00001
|
NM_025114.4(CEP290):c.1214C>T (p.Thr405Ile)
|
rs781183605
|
0.00001
|
NM_025114.4(CEP290):c.1255A>G (p.Lys419Glu)
|
rs376808205
|
0.00001
|
NM_025114.4(CEP290):c.1536G>T (p.Lys512Asn)
|
rs750163383
|
0.00001
|
NM_025114.4(CEP290):c.1623+2C>A
|
rs2039218006
|
0.00001
|
NM_025114.4(CEP290):c.1711+6C>T
|
rs1285486059
|
0.00001
|
NM_025114.4(CEP290):c.1765A>T (p.Ile589Leu)
|
rs770829686
|
0.00001
|
NM_025114.4(CEP290):c.2113G>A (p.Val705Ile)
|
rs769216455
|
0.00001
|
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile)
|
rs764963626
|
0.00001
|
NM_025114.4(CEP290):c.2772G>A (p.Met924Ile)
|
rs1000757966
|
0.00001
|
NM_025114.4(CEP290):c.2839G>T (p.Ala947Ser)
|
rs967541984
|
0.00001
|
NM_025114.4(CEP290):c.2974A>G (p.Asn992Asp)
|
rs1265448566
|
0.00001
|
NM_025114.4(CEP290):c.3203A>G (p.Asn1068Ser)
|
rs1276779845
|
0.00001
|
NM_025114.4(CEP290):c.3257C>T (p.Ser1086Leu)
|
rs760934388
|
0.00001
|
NM_025114.4(CEP290):c.3277C>T (p.Arg1093Cys)
|
rs778508890
|
0.00001
|
NM_025114.4(CEP290):c.3409C>T (p.Arg1137Trp)
|
rs759961956
|
0.00001
|
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys)
|
rs768864296
|
0.00001
|
NM_025114.4(CEP290):c.3731A>G (p.Glu1244Gly)
|
rs1342978055
|
0.00001
|
NM_025114.4(CEP290):c.3757C>T (p.Arg1253Cys)
|
rs547677441
|
0.00001
|
NM_025114.4(CEP290):c.3826G>A (p.Gly1276Arg)
|
rs267603712
|
0.00001
|
NM_025114.4(CEP290):c.3853A>G (p.Lys1285Glu)
|
rs765521933
|
0.00001
|
NM_025114.4(CEP290):c.3858C>A (p.Phe1286Leu)
|
rs1353300022
|
0.00001
|
NM_025114.4(CEP290):c.3899T>C (p.Ile1300Thr)
|
rs1460182061
|
0.00001
|
NM_025114.4(CEP290):c.4045A>G (p.Met1349Val)
|
rs923112337
|
0.00001
|
NM_025114.4(CEP290):c.4150C>T (p.Arg1384Cys)
|
rs794727563
|
0.00001
|
NM_025114.4(CEP290):c.4177A>G (p.Ile1393Val)
|
rs2036709987
|
0.00001
|
NM_025114.4(CEP290):c.4302+5G>A
|
rs1013125589
|
0.00001
|
NM_025114.4(CEP290):c.4383G>T (p.Lys1461Asn)
|
rs769732992
|
0.00001
|
NM_025114.4(CEP290):c.4697C>T (p.Ala1566Val)
|
rs751408783
|
0.00001
|
NM_025114.4(CEP290):c.4736A>T (p.Glu1579Val)
|
rs760059883
|
0.00001
|
NM_025114.4(CEP290):c.4812+6A>T
|
rs769525877
|
0.00001
|
NM_025114.4(CEP290):c.4817T>C (p.Leu1606Ser)
|
rs767636506
|
0.00001
|
NM_025114.4(CEP290):c.4854G>T (p.Lys1618Asn)
|
rs747852436
|
0.00001
|
NM_025114.4(CEP290):c.521A>T (p.Glu174Val)
|
rs774484028
|
0.00001
|
NM_025114.4(CEP290):c.533A>G (p.Gln178Arg)
|
rs773591434
|
0.00001
|
NM_025114.4(CEP290):c.5423G>A (p.Ser1808Asn)
|
rs763278328
|
0.00001
|
NM_025114.4(CEP290):c.5543A>G (p.Asp1848Gly)
|
rs563967678
|
0.00001
|
NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys)
|
rs562477272
|
0.00001
|
NM_025114.4(CEP290):c.5921T>C (p.Val1974Ala)
|
rs1354836663
|
0.00001
|
NM_025114.4(CEP290):c.6098A>G (p.Glu2033Gly)
|
rs756608200
|
0.00001
|
NM_025114.4(CEP290):c.6235C>A (p.Leu2079Ile)
|
rs753687613
|
0.00001
|
NM_025114.4(CEP290):c.6624G>C (p.Arg2208Ser)
|
rs777841957
|
0.00001
|
NM_025114.4(CEP290):c.6859G>A (p.Ala2287Thr)
|
rs1212611161
|
0.00001
|
NM_025114.4(CEP290):c.6941A>G (p.Asn2314Ser)
|
rs148173636
|
0.00001
|
NM_001128178.3(NPHP1):c.1165C>T (p.Arg389Cys)
|
rs375907280
|
|
NM_001128178.3(NPHP1):c.1462A>G (p.Met488Val)
|
rs373953762
|
|
NM_001128178.3(NPHP1):c.1522G>C (p.Val508Leu)
|
rs573192954
|
|
NM_001128178.3(NPHP1):c.1708G>A (p.Ala570Thr)
|
rs372893275
|
|
NM_001128178.3(NPHP1):c.1882C>T (p.Arg628Trp)
|
rs141686332
|
|
NM_001128178.3(NPHP1):c.1933G>A (p.Ala645Thr)
|
rs201077898
|
|
NM_001128178.3(NPHP1):c.404A>G (p.Asp135Gly)
|
rs747176517
|
|
NM_001128178.3(NPHP1):c.44G>T (p.Arg15Leu)
|
rs774386187
|
|
NM_001128178.3(NPHP1):c.522+5_522+8del
|
rs1411070570
|
|
NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup)
|
rs777677768
|
|
NM_001128178.3(NPHP1):c.678A>C (p.Glu226Asp)
|
rs947765689
|
|
NM_001128178.3(NPHP1):c.712G>T (p.Ala238Ser)
|
rs201661196
|
|
NM_001128178.3(NPHP1):c.771+136C>A
|
rs142670785
|
|
NM_001378615.1(CC2D2A):c.1127A>T (p.Glu376Val)
|
rs16892095
|
|
NM_001378615.1(CC2D2A):c.1817A>T (p.Glu606Val)
|
rs747187783
|
|
NM_001378615.1(CC2D2A):c.1946C>T (p.Thr649Met)
|
rs201884883
|
|
NM_001378615.1(CC2D2A):c.248-4_248-3insAAGTTTT
|
rs750398145
|
|
NM_001378615.1(CC2D2A):c.2993AAG[2] (p.Glu1000del)
|
rs764874938
|
|
NM_015272.5(RPGRIP1L):c.100C>G (p.Arg34Gly)
|
rs565245381
|
|
NM_015272.5(RPGRIP1L):c.1163A>G (p.Gln388Arg)
|
rs181526554
|
|
NM_015272.5(RPGRIP1L):c.1476A>C (p.Glu492Asp)
|
rs1967370164
|
|
NM_015272.5(RPGRIP1L):c.1717G>A (p.Ala573Thr)
|
rs2151128525
|
|
NM_015272.5(RPGRIP1L):c.1913A>G (p.Tyr638Cys)
|
rs981992752
|
|
NM_015272.5(RPGRIP1L):c.2467_2468delinsTT (p.Ala823Leu)
|
rs2151082906
|
|
NM_015272.5(RPGRIP1L):c.2719G>T (p.Ala907Ser)
|
rs1966216548
|
|
NM_015272.5(RPGRIP1L):c.2839C>T (p.Leu947Phe)
|
rs576417383
|
|
NM_015272.5(RPGRIP1L):c.293G>T (p.Gly98Val)
|
rs886052098
|
|
NM_015272.5(RPGRIP1L):c.2968CCT[2] (p.Pro992del)
|
rs752076060
|
|
NM_015272.5(RPGRIP1L):c.3464C>T (p.Ala1155Val)
|
rs1436841364
|
|
NM_015272.5(RPGRIP1L):c.3811del (p.Asp1271fs)
|
rs761954313
|
|
NM_015272.5(RPGRIP1L):c.3844G>A (p.Ala1282Thr)
|
rs2150909535
|
|
NM_015272.5(RPGRIP1L):c.530G>A (p.Gly177Asp)
|
rs987512823
|
|
NM_025114.4(CEP290):c.151C>T (p.Leu51Phe)
|
rs1264332374
|
|
NM_025114.4(CEP290):c.1747A>G (p.Ile583Val)
|
rs1459958084
|
|
NM_025114.4(CEP290):c.2191C>A (p.Gln731Lys)
|
rs767250881
|
|
NM_025114.4(CEP290):c.2233A>G (p.Lys745Glu)
|
rs1193394531
|
|
NM_025114.4(CEP290):c.2279T>C (p.Phe760Ser)
|
rs1488946278
|
|
NM_025114.4(CEP290):c.2317A>T (p.Ser773Cys)
|
rs748976722
|
|
NM_025114.4(CEP290):c.2440G>T (p.Val814Leu)
|
rs955251811
|
|
NM_025114.4(CEP290):c.2483+5A>G
|
rs2137661741
|
|
NM_025114.4(CEP290):c.2864A>G (p.Asn955Ser)
|
rs1443848622
|
|
NM_025114.4(CEP290):c.2927A>G (p.Tyr976Cys)
|
rs1039332206
|
|
NM_025114.4(CEP290):c.3020T>C (p.Val1007Ala)
|
rs898733071
|
|
NM_025114.4(CEP290):c.3162_3167del (p.Ile1055_Ser1056del)
|
rs760503950
|
|
NM_025114.4(CEP290):c.3250C>G (p.Arg1084Gly)
|
rs372918770
|
|
NM_025114.4(CEP290):c.3250C>T (p.Arg1084Trp)
|
rs372918770
|
|
NM_025114.4(CEP290):c.3514CAA[2] (p.Gln1174del)
|
rs749010290
|
|
NM_025114.4(CEP290):c.3605A>G (p.Lys1202Arg)
|
rs375065584
|
|
NM_025114.4(CEP290):c.3605A>T (p.Lys1202Met)
|
rs375065584
|
|
NM_025114.4(CEP290):c.362A>C (p.Glu121Ala)
|
rs2040372439
|
|
NM_025114.4(CEP290):c.3829_3830delinsCT (p.Ala1277Leu)
|
rs1565845877
|
|
NM_025114.4(CEP290):c.3949A>G (p.Lys1317Glu)
|
rs2137270029
|
|
NM_025114.4(CEP290):c.4298A>G (p.Gln1433Arg)
|
rs1157241942
|
|
NM_025114.4(CEP290):c.4555A>G (p.Ile1519Val)
|
rs200817579
|
|
NM_025114.4(CEP290):c.5013G>C (p.Gln1671His)
|
rs1173154577
|
|
NM_025114.4(CEP290):c.5145T>G (p.Asn1715Lys)
|
rs568619750
|
|
NM_025114.4(CEP290):c.5226+5_5226+8del
|
rs1353301232
|
|
NM_025114.4(CEP290):c.5228C>T (p.Ala1743Val)
|
rs951910051
|
|
NM_025114.4(CEP290):c.5777G>A (p.Arg1926Gln)
|
rs778030031
|
|
NM_025114.4(CEP290):c.5805A>T (p.Glu1935Asp)
|
rs2136964084
|
|
NM_025114.4(CEP290):c.6218T>C (p.Ile2073Thr)
|
rs2034695558
|
|
NM_025114.4(CEP290):c.6452T>G (p.Leu2151Trp)
|
rs191613017
|
|
NM_025114.4(CEP290):c.64GAA[1] (p.Glu23del)
|
rs780211907
|
|
NM_025114.4(CEP290):c.6570G>A (p.Met2190Ile)
|
rs1480802620
|
|
NM_025114.4(CEP290):c.7198C>G (p.Gln2400Glu)
|
rs1478582091
|
|
NM_025114.4(CEP290):c.7305GAA[2] (p.Lys2437del)
|
rs768777116
|
|
NM_025114.4(CEP290):c.790G>T (p.Val264Leu)
|
rs1242440672
|
|
NM_025114.4(CEP290):c.916G>A (p.Val306Ile)
|
rs558949569
|
|
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu)
|
rs774072453
|
|