NM_206933.4(USH2A):c.11928G>A (p.Thr3976=)
|
rs55961436
|
0.01005
|
NM_014003.4(DHX38):c.1281G>A (p.Pro427=)
|
rs35586337
|
0.00354
|
NM_001164665.2(KIAA1549):c.5157C>T (p.Pro1719=)
|
rs148849089
|
0.00307
|
NM_000350.3(ABCA4):c.1653G>A (p.Val551=)
|
rs61753963
|
0.00243
|
NM_206933.4(USH2A):c.5993G>A (p.Arg1998His)
|
rs143624066
|
0.00217
|
NM_178857.6(RP1L1):c.32C>T (p.Pro11Leu)
|
rs199642627
|
0.00215
|
NM_002900.3(RBP3):c.843C>T (p.Pro281=)
|
rs35186791
|
0.00203
|
NM_178857.6(RP1L1):c.273C>T (p.Ser91=)
|
rs201810499
|
0.00200
|
NM_018474.6(KIZ):c.48C>T (p.Tyr16=)
|
rs150243168
|
0.00190
|
NM_178857.6(RP1L1):c.568C>T (p.Arg190Cys)
|
rs202110498
|
0.00158
|
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His)
|
rs730254
|
0.00158
|
NM_145290.4(ADGRA3):c.1582G>A (p.Gly528Ser)
|
rs61745011
|
0.00146
|
NM_152419.3(HGSNAT):c.1250C>T (p.Thr417Ile)
|
rs200750044
|
0.00138
|
NM_000390.4(CHM):c.825G>A (p.Pro275=)
|
rs145268507
|
0.00132
|
NM_001029883.3(PCARE):c.2864G>A (p.Arg955Gln)
|
rs184249075
|
0.00126
|
NM_178857.6(RP1L1):c.156C>T (p.Ala52=)
|
rs78501382
|
0.00112
|
NM_182916.3(TRNT1):c.945C>T (p.Ile315=)
|
rs150742431
|
0.00100
|
NM_001164665.2(KIAA1549):c.3875C>T (p.Pro1292Leu)
|
rs139052197
|
0.00099
|
NM_206933.4(USH2A):c.6628C>G (p.Pro2210Ala)
|
rs192115090
|
0.00086
|
NM_015662.3(IFT172):c.2264G>A (p.Arg755Gln)
|
rs78631901
|
0.00083
|
NM_001164665.2(KIAA1549):c.2642C>T (p.Thr881Met)
|
rs138709216
|
0.00081
|
NM_000350.3(ABCA4):c.1932C>T (p.Asp644=)
|
rs117400594
|
0.00078
|
NM_014003.4(DHX38):c.198C>T (p.Asp66=)
|
rs147365158
|
0.00071
|
NM_016247.4(IMPG2):c.1582A>G (p.Ile528Val)
|
rs142710242
|
0.00063
|
NM_021831.6(AGBL5):c.2438G>A (p.Arg813Gln)
|
rs183748586
|
0.00059
|
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys)
|
rs145771342
|
0.00050
|
NM_178857.6(RP1L1):c.77C>T (p.Ser26Leu)
|
rs185749010
|
0.00049
|
NM_015047.3(EMC1):c.2553C>T (p.Ile851=)
|
rs148902366
|
0.00046
|
NM_145290.4(ADGRA3):c.726G>A (p.Pro242=)
|
rs150888668
|
0.00045
|
NM_000283.4(PDE6B):c.651G>A (p.Thr217=)
|
rs200664252
|
0.00041
|
NM_001164665.2(KIAA1549):c.1344C>T (p.Ala448=)
|
rs183368912
|
0.00039
|
NM_014003.4(DHX38):c.375C>T (p.Ser125=)
|
rs139547116
|
0.00039
|
NM_014714.4(IFT140):c.2829G>A (p.Pro943=)
|
rs141779807
|
0.00038
|
NM_145290.4(ADGRA3):c.1049C>T (p.Pro350Leu)
|
rs147843055
|
0.00036
|
NM_015047.3(EMC1):c.824G>A (p.Arg275Gln)
|
rs374425694
|
0.00035
|
NM_178857.6(RP1L1):c.622C>A (p.Gln208Lys)
|
rs201753844
|
0.00035
|
NM_001142800.2(EYS):c.4363A>G (p.Ile1455Val)
|
rs183144150
|
0.00034
|
NM_001029883.3(PCARE):c.3704C>T (p.Pro1235Leu)
|
rs201933656
|
0.00033
|
NM_006017.3(PROM1):c.333A>G (p.Leu111=)
|
rs182877482
|
0.00032
|
NM_006343.3(MERTK):c.986A>G (p.Asn329Ser)
|
rs34943572
|
0.00031
|
NM_001029883.3(PCARE):c.959G>A (p.Arg320His)
|
rs201617661
|
0.00029
|
NM_025114.4(CEP290):c.503G>A (p.Arg168His)
|
rs200063017
|
0.00029
|
NM_016247.4(IMPG2):c.3561C>T (p.Ser1187=)
|
rs139496326
|
0.00025
|
NM_002900.3(RBP3):c.2980G>A (p.Gly994Arg)
|
rs147772956
|
0.00024
|
NM_000431.4(MVK):c.1128C>T (p.Gly376=)
|
rs147662789
|
0.00023
|
NM_024649.5(BBS1):c.1194C>A (p.Ile398=)
|
rs200577824
|
0.00023
|
NM_145290.4(ADGRA3):c.3281C>T (p.Ala1094Val)
|
rs141619991
|
0.00023
|
NM_004183.4(BEST1):c.495G>A (p.Pro165=)
|
rs182941675
|
0.00022
|
NM_001164665.2(KIAA1549):c.5568C>T (p.Tyr1856=)
|
rs370609747
|
0.00021
|
NM_201253.3(CRB1):c.1986A>G (p.Ser662=)
|
rs115400822
|
0.00021
|
NM_001278293.3(ARL6):c.192A>G (p.Ser64=)
|
rs140114162
|
0.00020
|
NM_006017.3(PROM1):c.678G>A (p.Ala226=)
|
rs187116049
|
0.00020
|
NM_000440.3(PDE6A):c.316G>A (p.Ala106Thr)
|
rs200696413
|
0.00019
|
NM_001242957.3(MAK):c.1151A>G (p.Asn384Ser)
|
rs55773478
|
0.00019
|
NM_014003.4(DHX38):c.1818C>T (p.Gly606=)
|
rs201129506
|
0.00019
|
NM_024741.3(ZNF408):c.1557C>T (p.Thr519=)
|
rs148867575
|
0.00019
|
NM_145290.4(ADGRA3):c.2715C>T (p.Asn905=)
|
rs143611399
|
0.00019
|
NM_178857.6(RP1L1):c.5132G>C (p.Gly1711Ala)
|
rs200635063
|
0.00019
|
NM_206933.4(USH2A):c.5619C>T (p.Val1873=)
|
rs138416665
|
0.00019
|
NM_001164665.2(KIAA1549):c.2525C>T (p.Ala842Val)
|
rs202114551
|
0.00018
|
NM_014714.4(IFT140):c.2922G>A (p.Ala974=)
|
rs201864536
|
0.00018
|
NM_015047.3(EMC1):c.2454C>T (p.Asn818=)
|
rs141218180
|
0.00018
|
NM_016247.4(IMPG2):c.1382C>G (p.Thr461Arg)
|
rs201905772
|
0.00017
|
NM_025114.4(CEP290):c.384T>C (p.Asp128=)
|
rs76267039
|
0.00017
|
NM_001029883.3(PCARE):c.531G>A (p.Pro177=)
|
rs200914951
|
0.00016
|
NM_003322.6(TULP1):c.771G>A (p.Thr257=)
|
rs189081258
|
0.00016
|
NM_018474.6(KIZ):c.961T>C (p.Ser321Pro)
|
rs116937124
|
0.00016
|
NM_152419.3(HGSNAT):c.205G>A (p.Val69Ile)
|
rs202001245
|
0.00016
|
NM_000390.4(CHM):c.1255A>G (p.Ile419Val)
|
rs140093046
|
0.00015
|
NM_002900.3(RBP3):c.3635C>T (p.Thr1212Ile)
|
rs147796755
|
0.00015
|
NM_015662.3(IFT172):c.5187C>T (p.Asp1729=)
|
rs143671920
|
0.00015
|
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=)
|
rs201602424
|
0.00014
|
NM_000350.3(ABCA4):c.3363C>T (p.Asp1121=)
|
rs146117512
|
0.00014
|
NM_001164665.2(KIAA1549):c.1398C>T (p.Ser466=)
|
rs572555872
|
0.00014
|
NM_001201543.2(FAM161A):c.1391A>G (p.His464Arg)
|
rs201315315
|
0.00014
|
NM_001354768.3(NRL):c.186C>T (p.Thr62=)
|
rs140765019
|
0.00014
|
NM_015047.3(EMC1):c.1202G>A (p.Arg401Gln)
|
rs146431577
|
0.00014
|
NM_017739.4(POMGNT1):c.420G>A (p.Thr140=)
|
rs146237009
|
0.00014
|
NM_201253.3(CRB1):c.664G>A (p.Glu222Lys)
|
rs114846212
|
0.00014
|
NM_206933.4(USH2A):c.12790G>A (p.Glu4264Lys)
|
rs200792578
|
0.00014
|
NM_206933.4(USH2A):c.1581C>T (p.Cys527=)
|
rs140331348
|
0.00014
|
NM_206933.4(USH2A):c.1608C>T (p.Cys536=)
|
rs187380128
|
0.00014
|
NM_000322.5(PRPH2):c.507C>T (p.Asn169=)
|
rs143096101
|
0.00013
|
NM_001029883.3(PCARE):c.3527A>G (p.Gln1176Arg)
|
rs182812191
|
0.00013
|
NM_001142800.2(EYS):c.9209T>C (p.Ile3070Thr)
|
rs183589498
|
0.00013
|
NM_014714.4(IFT140):c.2583C>T (p.Asp861=)
|
rs576060920
|
0.00013
|
NM_015662.3(IFT172):c.4795C>T (p.Arg1599Cys)
|
rs186020523
|
0.00013
|
NM_206933.4(USH2A):c.10312G>A (p.Ala3438Thr)
|
rs146980351
|
0.00013
|
NM_000329.3(RPE65):c.441A>G (p.Thr147=)
|
rs185049543
|
0.00012
|
NM_014003.4(DHX38):c.2880C>T (p.Ile960=)
|
rs183625590
|
0.00012
|
NM_206933.4(USH2A):c.9813G>A (p.Met3271Ile)
|
rs137876918
|
0.00012
|
NM_003611.3(OFD1):c.795G>A (p.Lys265=)
|
rs745443262
|
0.00011
|
NM_006915.3(RP2):c.814A>G (p.Met272Val)
|
rs143606776
|
0.00011
|
NM_018418.5(SPATA7):c.207G>A (p.Ser69=)
|
rs142913613
|
0.00011
|
NM_020949.3(SLC7A14):c.2083C>T (p.Arg695Cys)
|
rs181011740
|
0.00011
|
NM_206933.4(USH2A):c.1935A>T (p.Thr645=)
|
rs146670690
|
0.00011
|
NM_206933.4(USH2A):c.9975G>A (p.Gly3325=)
|
rs188093326
|
0.00011
|
NM_001012720.2(RGR):c.666C>T (p.Leu222=)
|
rs575867273
|
0.00010
|
NM_001142800.2(EYS):c.7609G>A (p.Ala2537Thr)
|
rs189406424
|
0.00010
|
NM_001164665.2(KIAA1549):c.297C>T (p.Pro99=)
|
rs148061561
|
0.00010
|
NM_002900.3(RBP3):c.1333G>C (p.Asp445His)
|
rs569378041
|
0.00010
|
NM_014003.4(DHX38):c.2652C>T (p.Pro884=)
|
rs146025146
|
0.00010
|
NM_018418.5(SPATA7):c.1033A>G (p.Met345Val)
|
rs375371982
|
0.00010
|
NM_025114.4(CEP290):c.6806T>C (p.Ile2269Thr)
|
rs200090371
|
0.00010
|
NM_178857.6(RP1L1):c.1555G>A (p.Gly519Ser)
|
rs775657453
|
0.00010
|
NM_206933.4(USH2A):c.8760G>A (p.Thr2920=)
|
rs200525258
|
0.00010
|
NM_000283.4(PDE6B):c.726G>A (p.Ser242=)
|
rs200975847
|
0.00009
|
NM_001029883.3(PCARE):c.2803G>A (p.Glu935Lys)
|
rs200817926
|
0.00009
|
NM_006269.2(RP1):c.3024G>A (p.Gln1008=)
|
rs555160408
|
0.00009
|
NM_006445.4(PRPF8):c.3975C>T (p.Leu1325=)
|
rs375341985
|
0.00009
|
NM_014003.4(DHX38):c.1044G>A (p.Val348=)
|
rs534306131
|
0.00009
|
NM_014249.4(NR2E3):c.843C>T (p.Pro281=)
|
rs555211505
|
0.00009
|
NM_014714.4(IFT140):c.2528C>T (p.Pro843Leu)
|
rs774864079
|
0.00009
|
NM_014714.4(IFT140):c.4309G>A (p.Glu1437Lys)
|
rs201642067
|
0.00009
|
NM_015047.3(EMC1):c.692A>G (p.Asp231Gly)
|
rs571944461
|
0.00009
|
NM_020949.3(SLC7A14):c.1704C>T (p.Cys568=)
|
rs550936938
|
0.00009
|
NM_201253.3(CRB1):c.1189G>C (p.Asp397His)
|
rs114264441
|
0.00009
|
NM_000539.3(RHO):c.186C>T (p.Thr62=)
|
rs367909246
|
0.00008
|
NM_001029883.3(PCARE):c.635G>A (p.Arg212Gln)
|
rs763441352
|
0.00008
|
NM_001142800.2(EYS):c.2259C>T (p.Leu753=)
|
rs781359405
|
0.00008
|
NM_014003.4(DHX38):c.1122C>T (p.Asn374=)
|
rs148166755
|
0.00008
|
NM_178857.6(RP1L1):c.4837C>A (p.Leu1613Met)
|
rs181095314
|
0.00008
|
NM_206933.4(USH2A):c.11466C>T (p.Ser3822=)
|
rs144655434
|
0.00008
|
NM_000440.3(PDE6A):c.1479G>A (p.Ala493=)
|
rs772707339
|
0.00007
|
NM_001297.5(CNGB1):c.138C>T (p.Ala46=)
|
rs753557311
|
0.00007
|
NM_002900.3(RBP3):c.1216G>A (p.Glu406Lys)
|
rs576373730
|
0.00007
|
NM_003611.3(OFD1):c.2319A>G (p.Pro773=)
|
rs752137789
|
0.00007
|
NM_014003.4(DHX38):c.1890C>T (p.Asp630=)
|
rs367769997
|
0.00007
|
NM_025114.4(CEP290):c.4695A>G (p.Lys1565=)
|
rs189871589
|
0.00007
|
NM_201548.5(CERKL):c.1127A>C (p.Gln376Pro)
|
rs746220721
|
0.00007
|
NM_206933.4(USH2A):c.5577C>T (p.Phe1859=)
|
rs764839361
|
0.00007
|
NM_206933.4(USH2A):c.6524G>A (p.Arg2175His)
|
rs140845899
|
0.00007
|
NM_000283.4(PDE6B):c.699G>A (p.Thr233=)
|
rs148264146
|
0.00006
|
NM_000350.3(ABCA4):c.1818C>T (p.Gly606=)
|
rs377164833
|
0.00006
|
NM_001029883.3(PCARE):c.1775C>T (p.Thr592Met)
|
rs202166083
|
0.00006
|
NM_001164665.2(KIAA1549):c.2196G>A (p.Ala732=)
|
rs771197119
|
0.00006
|
NM_001164665.2(KIAA1549):c.426C>T (p.Tyr142=)
|
rs183634909
|
0.00006
|
NM_003611.3(OFD1):c.1930C>T (p.Arg644Cys)
|
rs185831378
|
0.00006
|
NM_006017.3(PROM1):c.807G>A (p.Ala269=)
|
rs140327426
|
0.00006
|
NM_006343.3(MERTK):c.1282A>G (p.Ser428Gly)
|
rs555016686
|
0.00006
|
NM_014003.4(DHX38):c.3537C>T (p.Ala1179=)
|
rs141593731
|
0.00006
|
NM_014003.4(DHX38):c.591C>T (p.Pro197=)
|
rs763901646
|
0.00006
|
NM_014249.4(NR2E3):c.410C>T (p.Ser137Phe)
|
rs767828150
|
0.00006
|
NM_014714.4(IFT140):c.2645C>T (p.Ala882Val)
|
rs200394007
|
0.00006
|
NM_015629.4(PRPF31):c.684C>T (p.Ala228=)
|
rs181492006
|
0.00006
|
NM_015662.3(IFT172):c.915A>G (p.Thr305=)
|
rs180855666
|
0.00006
|
NM_144631.6(ZNF513):c.1188C>T (p.Ala396=)
|
rs199625496
|
0.00006
|
NM_178857.6(RP1L1):c.2629C>T (p.His877Tyr)
|
rs770403429
|
0.00006
|
NM_178857.6(RP1L1):c.3053C>A (p.Pro1018His)
|
rs200191362
|
0.00006
|
NM_178857.6(RP1L1):c.670G>A (p.Ala224Thr)
|
rs117547822
|
0.00006
|
NM_201253.3(CRB1):c.1182C>T (p.Cys394=)
|
rs115352681
|
0.00006
|
NM_206933.4(USH2A):c.15355C>T (p.Arg5119Trp)
|
rs767137840
|
0.00006
|
NM_206933.4(USH2A):c.4030A>G (p.Met1344Val)
|
rs727503732
|
0.00006
|
NM_001029883.3(PCARE):c.2898A>C (p.Pro966=)
|
rs187119693
|
0.00005
|
NM_001142800.2(EYS):c.2028G>A (p.Thr676=)
|
rs758722034
|
0.00005
|
NM_002900.3(RBP3):c.2446G>T (p.Ala816Ser)
|
rs544729230
|
0.00005
|
NM_006269.2(RP1):c.2923A>G (p.Ile975Val)
|
rs202016292
|
0.00005
|
NM_006944.3(SPP2):c.173C>T (p.Pro58Leu)
|
rs143082886
|
0.00005
|
NM_014014.5(SNRNP200):c.5457C>T (p.Ala1819=)
|
rs148995951
|
0.00005
|
NM_014249.4(NR2E3):c.1082A>G (p.His361Arg)
|
rs537337423
|
0.00005
|
NM_014714.4(IFT140):c.1200C>T (p.Ser400=)
|
rs778020037
|
0.00005
|
NM_015662.3(IFT172):c.1678A>G (p.Met560Val)
|
rs763516858
|
0.00005
|
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser)
|
rs147362398
|
0.00005
|
NM_145290.4(ADGRA3):c.1706C>T (p.Thr569Ile)
|
rs200835396
|
0.00005
|
NM_145290.4(ADGRA3):c.859G>A (p.Asp287Asn)
|
rs138542858
|
0.00005
|
NM_178857.6(RP1L1):c.2441A>G (p.Glu814Gly)
|
rs190447684
|
0.00005
|
NM_178857.6(RP1L1):c.3340T>A (p.Ser1114Thr)
|
rs559059729
|
0.00005
|
NM_201253.3(CRB1):c.3228T>C (p.Asp1076=)
|
rs780576185
|
0.00005
|
NM_206933.4(USH2A):c.1346G>A (p.Arg449His)
|
rs766715882
|
0.00005
|
NM_206933.4(USH2A):c.7839G>T (p.Glu2613Asp)
|
rs568902534
|
0.00005
|
NM_000350.3(ABCA4):c.5712A>G (p.Gln1904=)
|
rs191506332
|
0.00004
|
NM_000440.3(PDE6A):c.240T>C (p.Asn80=)
|
rs776664462
|
0.00004
|
NM_001029883.3(PCARE):c.3531G>A (p.Arg1177=)
|
rs189904739
|
0.00004
|
NM_001142800.2(EYS):c.5411T>C (p.Ile1804Thr)
|
rs368097230
|
0.00004
|
NM_001142800.2(EYS):c.5775A>G (p.Gln1925=)
|
rs1465801209
|
0.00004
|
NM_001142800.2(EYS):c.77G>A (p.Arg26Gln)
|
rs528733427
|
0.00004
|
NM_001164665.2(KIAA1549):c.4959G>A (p.Gln1653=)
|
rs184005645
|
0.00004
|
NM_002098.6(GUCA1B):c.492C>T (p.Asn164=)
|
rs746910924
|
0.00004
|
NM_006017.3(PROM1):c.1407G>A (p.Pro469=)
|
rs763710252
|
0.00004
|
NM_006445.4(PRPF8):c.1116G>A (p.Pro372=)
|
rs376645217
|
0.00004
|
NM_014003.4(DHX38):c.1413G>A (p.Ala471=)
|
rs370933306
|
0.00004
|
NM_014714.4(IFT140):c.183G>A (p.Pro61=)
|
rs751515057
|
0.00004
|
NM_014714.4(IFT140):c.3156C>T (p.Asp1052=)
|
rs528573485
|
0.00004
|
NM_016247.4(IMPG2):c.21T>G (p.Phe7Leu)
|
rs193120038
|
0.00004
|
NM_016247.4(IMPG2):c.3288G>A (p.Val1096=)
|
rs190315698
|
0.00004
|
NM_018418.5(SPATA7):c.1269G>A (p.Ser423=)
|
rs149387181
|
0.00004
|
NM_018474.6(KIZ):c.942A>G (p.Lys314=)
|
rs185395297
|
0.00004
|
NM_021831.6(AGBL5):c.2526C>T (p.Ala842=)
|
rs529554818
|
0.00004
|
NM_024741.3(ZNF408):c.892G>A (p.Gly298Ser)
|
rs371633363
|
0.00004
|
NM_145290.4(ADGRA3):c.954T>A (p.Ser318=)
|
rs199639027
|
0.00004
|
NM_152419.3(HGSNAT):c.1839C>T (p.Ile613=)
|
rs772611068
|
0.00004
|
NM_152419.3(HGSNAT):c.259G>A (p.Val87Ile)
|
rs374287774
|
0.00004
|
NM_178857.6(RP1L1):c.2465G>A (p.Arg822Gln)
|
rs750002050
|
0.00004
|
NM_206933.4(USH2A):c.10904C>A (p.Thr3635Asn)
|
rs727505166
|
0.00004
|
NM_206933.4(USH2A):c.11134G>A (p.Val3712Ile)
|
rs201951918
|
0.00004
|
NM_206933.4(USH2A):c.13939G>C (p.Gly4647Arg)
|
rs144524302
|
0.00004
|
NM_206933.4(USH2A):c.14925C>T (p.Ser4975=)
|
rs1158136623
|
0.00004
|
NM_206933.4(USH2A):c.723T>C (p.Thr241=)
|
rs571744403
|
0.00004
|
NM_206933.4(USH2A):c.9611A>G (p.His3204Arg)
|
rs745539518
|
0.00004
|
NM_000283.4(PDE6B):c.2409T>C (p.Asn803=)
|
rs200002559
|
0.00003
|
NM_000431.4(MVK):c.258G>A (p.Glu86=)
|
rs139299227
|
0.00003
|
NM_000883.4(IMPDH1):c.1743G>A (p.Ser581=)
|
rs765536215
|
0.00003
|
NM_001142800.2(EYS):c.6562A>G (p.Ile2188Val)
|
rs184448644
|
0.00003
|
NM_001164665.2(KIAA1549):c.1098T>G (p.Leu366=)
|
rs777566268
|
0.00003
|
NM_001164665.2(KIAA1549):c.4626C>T (p.Arg1542=)
|
rs577570180
|
0.00003
|
NM_001242957.3(MAK):c.1119G>A (p.Pro373=)
|
rs1011259942
|
0.00003
|
NM_001297.5(CNGB1):c.3483C>T (p.Val1161=)
|
rs776024444
|
0.00003
|
NM_002900.3(RBP3):c.411C>T (p.Ser137=)
|
rs184452710
|
0.00003
|
NM_005802.5(TOPORS):c.3084G>A (p.Ser1028=)
|
rs377690669
|
0.00003
|
NM_006343.3(MERTK):c.2691C>T (p.Ile897=)
|
rs1361259046
|
0.00003
|
NM_014003.4(DHX38):c.2835G>C (p.Leu945=)
|
rs561533345
|
0.00003
|
NM_014003.4(DHX38):c.423A>T (p.Glu141Asp)
|
rs145090795
|
0.00003
|
NM_017739.4(POMGNT1):c.507C>T (p.Pro169=)
|
rs576860809
|
0.00003
|
NM_018418.5(SPATA7):c.929C>T (p.Thr310Ile)
|
rs767454994
|
0.00003
|
NM_020949.3(SLC7A14):c.1074G>A (p.Pro358=)
|
rs758898781
|
0.00003
|
NM_024741.3(ZNF408):c.377G>A (p.Ser126Asn)
|
rs536561101
|
0.00003
|
NM_178857.6(RP1L1):c.1587G>C (p.Glu529Asp)
|
rs750105114
|
0.00003
|
NM_178857.6(RP1L1):c.3022C>G (p.Gln1008Glu)
|
rs756996764
|
0.00003
|
NM_178857.6(RP1L1):c.3026C>T (p.Ala1009Val)
|
rs751300307
|
0.00003
|
NM_178857.6(RP1L1):c.940C>T (p.Arg314Cys)
|
rs777582995
|
0.00003
|
NM_182916.3(TRNT1):c.780T>C (p.Asp260=)
|
rs150433086
|
0.00003
|
NM_206933.4(USH2A):c.12918C>T (p.Leu4306=)
|
rs192709780
|
0.00003
|
NM_206933.4(USH2A):c.1977A>G (p.Gly659=)
|
rs774388489
|
0.00003
|
NM_206933.4(USH2A):c.7617G>A (p.Pro2539=)
|
rs773159617
|
0.00003
|
NM_206933.4(USH2A):c.7965G>A (p.Glu2655=)
|
rs571110005
|
0.00003
|
NM_207352.4(CYP4V2):c.264G>T (p.Pro88=)
|
rs201610304
|
0.00003
|
NM_000283.4(PDE6B):c.1575C>T (p.Tyr525=)
|
rs373724992
|
0.00002
|
NM_000350.3(ABCA4):c.2862C>T (p.Tyr954=)
|
rs757870374
|
0.00002
|
NM_000350.3(ABCA4):c.3972G>A (p.Ala1324=)
|
rs200965081
|
0.00002
|
NM_000350.3(ABCA4):c.6528C>T (p.Asp2176=)
|
rs767917933
|
0.00002
|
NM_000350.3(ABCA4):c.6579C>T (p.Phe2193=)
|
rs763108716
|
0.00002
|
NM_000440.3(PDE6A):c.420C>T (p.Ile140=)
|
rs542505960
|
0.00002
|
NM_001029883.3(PCARE):c.3404C>T (p.Pro1135Leu)
|
rs756152942
|
0.00002
|
NM_001029883.3(PCARE):c.358G>C (p.Gly120Arg)
|
rs140625913
|
0.00002
|
NM_001029883.3(PCARE):c.407A>G (p.Glu136Gly)
|
rs761117759
|
0.00002
|
NM_001142800.2(EYS):c.1929T>C (p.Asp643=)
|
rs1412901872
|
0.00002
|
NM_001142800.2(EYS):c.5101C>T (p.Leu1701=)
|
rs776193099
|
0.00002
|
NM_001164665.2(KIAA1549):c.1758G>A (p.Pro586=)
|
rs751547233
|
0.00002
|
NM_002900.3(RBP3):c.2490C>T (p.Ala830=)
|
rs201066117
|
0.00002
|
NM_003322.6(TULP1):c.648G>A (p.Ala216=)
|
rs766865255
|
0.00002
|
NM_014003.4(DHX38):c.1002C>T (p.Asp334=)
|
rs202084485
|
0.00002
|
NM_014714.4(IFT140):c.3602G>A (p.Arg1201His)
|
rs147292597
|
0.00002
|
NM_014714.4(IFT140):c.4302C>T (p.Thr1434=)
|
rs774573860
|
0.00002
|
NM_014714.4(IFT140):c.822C>T (p.Ser274=)
|
rs200604057
|
0.00002
|
NM_015629.4(PRPF31):c.1149C>T (p.Ile383=)
|
rs750245767
|
0.00002
|
NM_015662.3(IFT172):c.4228G>T (p.Val1410Leu)
|
rs777573615
|
0.00002
|
NM_018418.5(SPATA7):c.1476C>A (p.Phe492Leu)
|
rs750676893
|
0.00002
|
NM_020949.3(SLC7A14):c.636C>T (p.Gly212=)
|
rs765250467
|
0.00002
|
NM_144596.4(TTC8):c.5G>A (p.Ser2Asn)
|
rs199571677
|
0.00002
|
NM_145290.4(ADGRA3):c.1656C>T (p.Phe552=)
|
rs56925675
|
0.00002
|
NM_177965.4(CFAP418):c.564T>C (p.Ile188=)
|
rs754757696
|
0.00002
|
NM_178857.6(RP1L1):c.1763A>G (p.Asp588Gly)
|
rs770348021
|
0.00002
|
NM_201548.5(CERKL):c.1466C>G (p.Thr489Ser)
|
rs768292284
|
0.00002
|
NM_206933.4(USH2A):c.11464T>C (p.Ser3822Pro)
|
rs201961789
|
0.00002
|
NM_206933.4(USH2A):c.14190C>T (p.Thr4730=)
|
rs199694401
|
0.00002
|
NM_206933.4(USH2A):c.14643C>T (p.Ser4881=)
|
rs764036605
|
0.00002
|
NM_206933.4(USH2A):c.1572C>T (p.Ala524=)
|
rs748943923
|
0.00002
|
NM_206933.4(USH2A):c.6729C>T (p.Gly2243=)
|
rs369511538
|
0.00002
|
NM_000188.3(HK1):c.1092C>T (p.Ser364=)
|
rs755245138
|
0.00001
|
NM_000188.3(HK1):c.36G>T (p.Thr12=)
|
rs748679725
|
0.00001
|
NM_000283.4(PDE6B):c.800A>T (p.Tyr267Phe)
|
rs190999087
|
0.00001
|
NM_000326.5(RLBP1):c.255G>A (p.Ala85=)
|
rs557154377
|
0.00001
|
NM_000329.3(RPE65):c.783G>T (p.Leu261=)
|
rs188493184
|
0.00001
|
NM_000350.3(ABCA4):c.2712G>A (p.Thr904=)
|
rs546067089
|
0.00001
|
NM_000350.3(ABCA4):c.2841C>T (p.Asp947=)
|
rs200551567
|
0.00001
|
NM_000350.3(ABCA4):c.6270G>A (p.Pro2090=)
|
rs755217474
|
0.00001
|
NM_000440.3(PDE6A):c.1707G>A (p.Gln569=)
|
rs190218524
|
0.00001
|
NM_000440.3(PDE6A):c.286C>T (p.Leu96=)
|
rs148052388
|
0.00001
|
NM_000883.4(IMPDH1):c.1782C>T (p.Tyr594=)
|
rs368622318
|
0.00001
|
NM_001029883.3(PCARE):c.1137A>G (p.Glu379=)
|
rs755968619
|
0.00001
|
NM_001142800.2(EYS):c.1539T>C (p.Tyr513=)
|
rs778180391
|
0.00001
|
NM_001142800.2(EYS):c.2490T>C (p.Pro830=)
|
rs150194717
|
0.00001
|
NM_001142800.2(EYS):c.2577T>C (p.Pro859=)
|
rs1265766894
|
0.00001
|
NM_001142800.2(EYS):c.3204T>C (p.Asp1068=)
|
rs923464095
|
0.00001
|
NM_001142800.2(EYS):c.3972C>T (p.Leu1324=)
|
rs202130794
|
0.00001
|
NM_001142800.2(EYS):c.5955G>A (p.Glu1985=)
|
rs1316970477
|
0.00001
|
NM_001142800.2(EYS):c.6888T>C (p.His2296=)
|
rs1357255596
|
0.00001
|
NM_001142800.2(EYS):c.7713T>C (p.Asn2571=)
|
rs1266571823
|
0.00001
|
NM_001201543.2(FAM161A):c.109A>G (p.Lys37Glu)
|
rs200976538
|
0.00001
|
NM_001242957.3(MAK):c.1062C>T (p.Ser354=)
|
rs199694073
|
0.00001
|
NM_001242957.3(MAK):c.1315C>T (p.Arg439Trp)
|
rs764870230
|
0.00001
|
NM_001242957.3(MAK):c.968C>G (p.Pro323Arg)
|
rs200641218
|
0.00001
|
NM_001297.5(CNGB1):c.1443A>G (p.Ala481=)
|
rs755279299
|
0.00001
|
NM_001297.5(CNGB1):c.1523C>T (p.Ser508Leu)
|
rs539534716
|
0.00001
|
NM_001297.5(CNGB1):c.2979G>A (p.Gly993=)
|
rs749626938
|
0.00001
|
NM_001297.5(CNGB1):c.713G>A (p.Gly238Asp)
|
rs201703193
|
0.00001
|
NM_002497.4(NEK2):c.1041A>G (p.Arg347=)
|
rs141145283
|
0.00001
|
NM_002900.3(RBP3):c.1093G>A (p.Glu365Lys)
|
rs782662883
|
0.00001
|
NM_002900.3(RBP3):c.1170C>T (p.Ile390=)
|
rs146764267
|
0.00001
|
NM_002900.3(RBP3):c.1770G>A (p.Ala590=)
|
rs782309677
|
0.00001
|
NM_003322.6(TULP1):c.24C>A (p.Leu8=)
|
rs764915724
|
0.00001
|
NM_003611.3(OFD1):c.2117C>T (p.Thr706Ile)
|
rs773224811
|
0.00001
|
NM_004183.4(BEST1):c.699A>G (p.Pro233=)
|
rs760816505
|
0.00001
|
NM_005802.5(TOPORS):c.1691G>A (p.Arg564Gln)
|
rs772045314
|
0.00001
|
NM_005802.5(TOPORS):c.2783A>G (p.Asn928Ser)
|
rs1369702932
|
0.00001
|
NM_006017.3(PROM1):c.1710C>T (p.Tyr570=)
|
rs201644238
|
0.00001
|
NM_006017.3(PROM1):c.2551G>A (p.Val851Ile)
|
rs201910962
|
0.00001
|
NM_006017.3(PROM1):c.706G>A (p.Val236Met)
|
rs536161084
|
0.00001
|
NM_006269.2(RP1):c.2720T>C (p.Ile907Thr)
|
rs756250298
|
0.00001
|
NM_006269.2(RP1):c.5913C>A (p.Asn1971Lys)
|
rs754290174
|
0.00001
|
NM_006445.4(PRPF8):c.5862G>A (p.Leu1954=)
|
rs200558108
|
0.00001
|
NM_006445.4(PRPF8):c.6051G>A (p.Ser2017=)
|
rs560560988
|
0.00001
|
NM_012106.4(ARL2BP):c.138C>T (p.Asp46=)
|
rs771882265
|
0.00001
|
NM_012418.4(FSCN2):c.810C>T (p.Tyr270=)
|
rs782805395
|
0.00001
|
NM_012469.4(PRPF6):c.1959C>T (p.Ser653=)
|
rs757720133
|
0.00001
|
NM_014003.4(DHX38):c.1038C>T (p.Asp346=)
|
rs527510105
|
0.00001
|
NM_014003.4(DHX38):c.1956C>T (p.Asp652=)
|
rs2042138181
|
0.00001
|
NM_014003.4(DHX38):c.3294C>T (p.Pro1098=)
|
rs768157673
|
0.00001
|
NM_014003.4(DHX38):c.696G>A (p.Ser232=)
|
rs556379177
|
0.00001
|
NM_014014.5(SNRNP200):c.2340T>C (p.Tyr780=)
|
rs1158989221
|
0.00001
|
NM_014014.5(SNRNP200):c.3462C>T (p.Tyr1154=)
|
rs148570522
|
0.00001
|
NM_014014.5(SNRNP200):c.4836G>A (p.Thr1612=)
|
rs1428606912
|
0.00001
|
NM_014249.4(NR2E3):c.123G>A (p.Val41=)
|
rs555860015
|
0.00001
|
NM_014249.4(NR2E3):c.222C>T (p.Ser74=)
|
rs767304567
|
0.00001
|
NM_014249.4(NR2E3):c.351C>T (p.Ala117=)
|
rs572488420
|
0.00001
|
NM_014249.4(NR2E3):c.489G>A (p.Met163Ile)
|
rs534156309
|
0.00001
|
NM_014249.4(NR2E3):c.864T>A (p.Gly288=)
|
rs537802684
|
0.00001
|
NM_014714.4(IFT140):c.2367C>T (p.Asp789=)
|
rs757026549
|
0.00001
|
NM_014714.4(IFT140):c.3789G>A (p.Pro1263=)
|
rs769211167
|
0.00001
|
NM_015662.3(IFT172):c.591G>A (p.Pro197=)
|
rs747654101
|
0.00001
|
NM_016247.4(IMPG2):c.2431T>G (p.Ser811Ala)
|
rs76048775
|
0.00001
|
NM_016247.4(IMPG2):c.3219C>T (p.His1073=)
|
rs752500181
|
0.00001
|
NM_016247.4(IMPG2):c.525T>C (p.Thr175=)
|
rs766687575
|
0.00001
|
NM_017739.4(POMGNT1):c.1521C>T (p.Asn507=)
|
rs767617711
|
0.00001
|
NM_020949.3(SLC7A14):c.2076G>A (p.Thr692=)
|
rs200086652
|
0.00001
|
NM_020949.3(SLC7A14):c.582G>A (p.Leu194=)
|
rs776940063
|
0.00001
|
NM_021831.6(AGBL5):c.2262G>A (p.Leu754=)
|
rs77543215
|
0.00001
|
NM_021831.6(AGBL5):c.650G>A (p.Arg217Gln)
|
rs541509761
|
0.00001
|
NM_024649.5(BBS1):c.1320A>G (p.Arg440=)
|
rs1430151544
|
0.00001
|
NM_024649.5(BBS1):c.1578G>A (p.Ala526=)
|
rs373397428
|
0.00001
|
NM_024649.5(BBS1):c.447C>T (p.Pro149=)
|
rs763738657
|
0.00001
|
NM_024741.3(ZNF408):c.1992G>A (p.Glu664=)
|
rs762663282
|
0.00001
|
NM_025114.4(CEP290):c.2091G>A (p.Ala697=)
|
rs1399023990
|
0.00001
|
NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys)
|
rs562477272
|
0.00001
|
NM_025114.4(CEP290):c.6666A>G (p.Lys2222=)
|
rs544886883
|
0.00001
|
NM_031885.5(BBS2):c.783A>C (p.Ile261=)
|
rs183982328
|
0.00001
|
NM_144596.4(TTC8):c.465C>T (p.Ser155=)
|
rs1253468754
|
0.00001
|
NM_144631.6(ZNF513):c.219T>C (p.Ser73=)
|
rs148351779
|
0.00001
|
NM_145290.4(ADGRA3):c.2370C>T (p.Ile790=)
|
rs777007718
|
0.00001
|
NM_152419.3(HGSNAT):c.258C>T (p.Asn86=)
|
rs772299811
|
0.00001
|
NM_152419.3(HGSNAT):c.60C>T (p.Ala20=)
|
rs1251787808
|
0.00001
|
NM_201548.5(CERKL):c.933C>T (p.Thr311=)
|
rs371048058
|
0.00001
|
NM_206933.4(USH2A):c.13704C>T (p.Phe4568=)
|
rs397517986
|
0.00001
|
NM_206933.4(USH2A):c.13833G>A (p.Ala4611=)
|
rs760266483
|
0.00001
|
NM_206933.4(USH2A):c.14061C>A (p.Val4687=)
|
rs753243273
|
0.00001
|
NM_206933.4(USH2A):c.1758C>T (p.Tyr586=)
|
rs779929656
|
0.00001
|
NM_206933.4(USH2A):c.3933G>A (p.Ser1311=)
|
rs560861284
|
0.00001
|
NM_206933.4(USH2A):c.7206G>A (p.Leu2402=)
|
rs201731826
|
0.00001
|
NM_206933.4(USH2A):c.7230A>T (p.Val2410=)
|
rs202162396
|
0.00001
|
NM_206933.4(USH2A):c.9259G>A (p.Val3087Ile)
|
rs200382994
|
0.00001
|
NM_000188.3(HK1):c.1026C>T (p.Ile342=)
|
|
|
NM_000188.3(HK1):c.1560C>T (p.Pro520=)
|
rs200419488
|
|
NM_000188.3(HK1):c.660C>T (p.Asp220=)
|
|
|
NM_000283.4(PDE6B):c.556G>A (p.Val186Ile)
|
|
|
NM_000327.4(ROM1):c.9G>A (p.Pro3=)
|
|
|
NM_000350.3(ABCA4):c.462G>A (p.Arg154=)
|
rs1253706083
|
|
NM_000431.4(MVK):c.33G>A (p.Pro11=)
|
rs779289416
|
|
NM_000431.4(MVK):c.384C>T (p.Ser128=)
|
|
|
NM_000539.3(RHO):c.319C>T (p.Pro107Ser)
|
|
|
NM_000554.6(CRX):c.267C>T (p.Asn89=)
|
|
|
NM_000554.6(CRX):c.660C>G (p.Pro220=)
|
|
|
NM_000717.5(CA4):c.483C>T (p.Asp161=)
|
|
|
NM_000717.5(CA4):c.788C>G (p.Thr263Arg)
|
|
|
NM_001029883.3(PCARE):c.1944C>T (p.Ala648=)
|
rs746635522
|
|
NM_001029883.3(PCARE):c.2530G>A (p.Ala844Thr)
|
rs370203821
|
|
NM_001029883.3(PCARE):c.2965C>G (p.Pro989Ala)
|
rs184281410
|
|
NM_001029883.3(PCARE):c.3469G>A (p.Gly1157Arg)
|
rs755486918
|
|
NM_001029883.3(PCARE):c.3722C>T (p.Ser1241Phe)
|
rs78471512
|
|
NM_001034853.2(RPGR):c.1281A>G (p.Thr427=)
|
|
|
NM_001034853.2(RPGR):c.3183GGA[2] (p.Glu1066del)
|
rs746535151
|
|
NM_001077620.3(PRCD):c.123G>A (p.Ala41=)
|
rs750104756
|
|
NM_001142800.2(EYS):c.4393G>T (p.Ala1465Ser)
|
rs747921119
|
|
NM_001142800.2(EYS):c.4455A>G (p.Arg1485=)
|
rs755759273
|
|
NM_001142800.2(EYS):c.6474G>T (p.Leu2158=)
|
rs1383513366
|
|
NM_001142800.2(EYS):c.7164A>C (p.Pro2388=)
|
rs1233804845
|
|
NM_001142800.2(EYS):c.8812C>A (p.Leu2938Met)
|
|
|
NM_001164665.2(KIAA1549):c.3066T>G (p.Leu1022=)
|
|
|
NM_001164665.2(KIAA1549):c.462C>G (p.Asp154Glu)
|
rs191728209
|
|
NM_001164665.2(KIAA1549):c.5198A>G (p.Gln1733Arg)
|
|
|
NM_001164665.2(KIAA1549):c.5403G>A (p.Ser1801=)
|
rs1381129838
|
|
NM_001164665.2(KIAA1549):c.625A>T (p.Thr209Ser)
|
|
|
NM_001201543.2(FAM161A):c.1113C>G (p.Asp371Glu)
|
|
|
NM_001201543.2(FAM161A):c.1214G>C (p.Gly405Ala)
|
|
|
NM_001242957.3(MAK):c.1353G>T (p.Ser451=)
|
|
|
NM_001242957.3(MAK):c.369T>C (p.His123=)
|
|
|
NM_001297.5(CNGB1):c.2066A>G (p.His689Arg)
|
|
|
NM_001297.5(CNGB1):c.3420C>T (p.Ala1140=)
|
rs371860152
|
|
NM_001563.4(IMPG1):c.1606C>A (p.Leu536Ile)
|
|
|
NM_001563.4(IMPG1):c.534G>T (p.Glu178Asp)
|
|
|
NM_002900.3(RBP3):c.1641G>A (p.Thr547=)
|
rs534717081
|
|
NM_002900.3(RBP3):c.1753C>T (p.Pro585Ser)
|
|
|
NM_003611.3(OFD1):c.2372C>T (p.Pro791Leu)
|
|
|
NM_003611.3(OFD1):c.360T>G (p.Thr120=)
|
|
|
NM_004183.4(BEST1):c.1739+120T>C
|
|
|
NM_004183.4(BEST1):c.1739+190G>A
|
|
|
NM_004698.4(PRPF3):c.705C>T (p.Leu235=)
|
|
|
NM_004698.4(PRPF3):c.753G>A (p.Thr251=)
|
|
|
NM_005802.5(TOPORS):c.1845T>G (p.His615Gln)
|
|
|
NM_005802.5(TOPORS):c.2356C>T (p.Arg786Trp)
|
|
|
NM_005802.5(TOPORS):c.2498A>T (p.Asp833Val)
|
|
|
NM_005802.5(TOPORS):c.2575A>G (p.Lys859Glu)
|
|
|
NM_005802.5(TOPORS):c.2675A>G (p.Lys892Arg)
|
|
|
NM_005802.5(TOPORS):c.3089G>A (p.Arg1030Gln)
|
|
|
NM_006017.3(PROM1):c.158G>A (p.Gly53Asp)
|
rs755064227
|
|
NM_006017.3(PROM1):c.1659G>A (p.Lys553=)
|
|
|
NM_006269.2(RP1):c.2160C>T (p.Pro720=)
|
|
|
NM_006269.2(RP1):c.2830G>A (p.Val944Met)
|
|
|
NM_006269.2(RP1):c.2960G>A (p.Cys987Tyr)
|
|
|
NM_006269.2(RP1):c.4249C>G (p.Leu1417Val)
|
|
|
NM_006269.2(RP1):c.5552A>C (p.His1851Pro)
|
|
|
NM_006343.3(MERTK):c.1229C>T (p.Thr410Ile)
|
|
|
NM_006343.3(MERTK):c.1405G>T (p.Val469Phe)
|
rs79943145
|
|
NM_006343.3(MERTK):c.2874G>C (p.Pro958=)
|
rs144406499
|
|
NM_006343.3(MERTK):c.756A>C (p.Pro252=)
|
rs3761702
|
|
NM_006445.4(PRPF8):c.1137G>A (p.Glu379=)
|
|
|
NM_006445.4(PRPF8):c.1755T>C (p.Val585=)
|
|
|
NM_006445.4(PRPF8):c.1800A>G (p.Arg600=)
|
|
|
NM_006445.4(PRPF8):c.2199G>A (p.Thr733=)
|
rs777885967
|
|
NM_006445.4(PRPF8):c.2739C>T (p.Pro913=)
|
|
|
NM_006445.4(PRPF8):c.3039C>T (p.Asn1013=)
|
|
|
NM_006445.4(PRPF8):c.4311T>C (p.Arg1437=)
|
|
|
NM_006445.4(PRPF8):c.4638T>C (p.Asn1546=)
|
|
|
NM_006445.4(PRPF8):c.5052C>T (p.Phe1684=)
|
|
|
NM_006445.4(PRPF8):c.6220A>C (p.Arg2074=)
|
|
|
NM_006445.4(PRPF8):c.6468C>G (p.Thr2156=)
|
|
|
NM_006445.4(PRPF8):c.6582C>T (p.Thr2194=)
|
|
|
NM_006445.4(PRPF8):c.882T>C (p.Asn294=)
|
|
|
NM_006944.3(SPP2):c.105C>T (p.Tyr35=)
|
|
|
NM_012418.4(FSCN2):c.384C>T (p.Ala128=)
|
|
|
NM_012418.4(FSCN2):c.408C>T (p.Ala136=)
|
|
|
NM_012418.4(FSCN2):c.469C>T (p.Arg157Trp)
|
|
|
NM_012418.4(FSCN2):c.470G>A (p.Arg157Gln)
|
rs199574936
|
|
NM_012418.4(FSCN2):c.886A>G (p.Ile296Val)
|
|
|
NM_012469.4(PRPF6):c.1368G>C (p.Ala456=)
|
|
|
NM_012469.4(PRPF6):c.2185C>A (p.Arg729=)
|
|
|
NM_012469.4(PRPF6):c.2252G>A (p.Arg751Gln)
|
|
|
NM_012469.4(PRPF6):c.2639TCT[1] (p.Phe881del)
|
|
|
NM_014003.4(DHX38):c.2742G>A (p.Pro914=)
|
|
|
NM_014014.5(SNRNP200):c.1128G>A (p.Arg376=)
|
|
|
NM_014014.5(SNRNP200):c.3888C>G (p.Pro1296=)
|
rs143175658
|
|
NM_014249.4(NR2E3):c.1020G>A (p.Glu340=)
|
rs2140291719
|
|
NM_014249.4(NR2E3):c.882G>A (p.Thr294=)
|
rs1805024
|
|
NM_014714.4(IFT140):c.1405C>A (p.Leu469Ile)
|
|
|
NM_014714.4(IFT140):c.2676C>T (p.Ala892=)
|
rs377016838
|
|
NM_014714.4(IFT140):c.3215G>A (p.Arg1072Gln)
|
rs201884886
|
|
NM_014714.4(IFT140):c.3420G>A (p.Glu1140=)
|
|
|
NM_014714.4(IFT140):c.3561G>A (p.Ser1187=)
|
rs769082969
|
|
NM_014714.4(IFT140):c.4208GGC[4] (p.Arg1405dup)
|
rs754312950
|
|
NM_015047.3(EMC1):c.155A>G (p.Lys52Arg)
|
|
|
NM_015047.3(EMC1):c.2418C>T (p.Thr806=)
|
rs766175186
|
|
NM_015629.4(PRPF31):c.69T>C (p.Tyr23=)
|
|
|
NM_015629.4(PRPF31):c.792T>C (p.Ser264=)
|
|
|
NM_015629.4(PRPF31):c.96C>T (p.Ile32=)
|
|
|
NM_015662.3(IFT172):c.1731C>T (p.Thr577=)
|
rs369849820
|
|
NM_015662.3(IFT172):c.3699C>T (p.Leu1233=)
|
|
|
NM_015999.6(ADIPOR1):c.885C>T (p.Thr295=)
|
|
|
NM_016247.4(IMPG2):c.192G>A (p.Gln64=)
|
|
|
NM_016247.4(IMPG2):c.3393T>C (p.His1131=)
|
rs1706278913
|
|
NM_017739.4(POMGNT1):c.*551A>G
|
|
|
NM_017739.4(POMGNT1):c.1203T>C (p.Asp401=)
|
rs1437757660
|
|
NM_020949.3(SLC7A14):c.1491G>A (p.Gly497=)
|
rs145787666
|
|
NM_021831.6(AGBL5):c.1229C>T (p.Ala410Val)
|
|
|
NM_022367.4(SEMA4A):c.93G>T (p.Ala31=)
|
|
|
NM_024741.3(ZNF408):c.704C>G (p.Pro235Arg)
|
|
|
NM_025114.4(CEP290):c.2533A>C (p.Arg845=)
|
rs371475408
|
|
NM_025114.4(CEP290):c.4044T>C (p.His1348=)
|
rs771298371
|
|
NM_025114.4(CEP290):c.5574C>T (p.Thr1858=)
|
rs775652694
|
|
NM_025114.4(CEP290):c.6054A>G (p.Leu2018=)
|
rs2136912612
|
|
NM_031885.5(BBS2):c.1158G>A (p.Thr386=)
|
rs199944942
|
|
NM_144596.4(TTC8):c.324C>T (p.Ala108=)
|
rs571883979
|
|
NM_144631.6(ZNF513):c.147A>G (p.Glu49=)
|
|
|
NM_145290.4(ADGRA3):c.3543A>C (p.Ala1181=)
|
rs1577315911
|
|
NM_145290.4(ADGRA3):c.501A>G (p.Ser167=)
|
|
|
NM_152443.3(RDH12):c.711G>A (p.Leu237=)
|
|
|
NM_152443.3(RDH12):c.798G>A (p.Leu266=)
|
rs192095744
|
|
NM_178857.6(RP1L1):c.1058G>C (p.Ser353Thr)
|
|
|
NM_178857.6(RP1L1):c.1112G>T (p.Gly371Val)
|
|
|
NM_178857.6(RP1L1):c.1491G>C (p.Gly497=)
|
|
|
NM_178857.6(RP1L1):c.1551A>G (p.Gln517=)
|
rs761588903
|
|
NM_178857.6(RP1L1):c.2026A>T (p.Ser676Cys)
|
|
|
NM_178857.6(RP1L1):c.2499G>A (p.Pro833=)
|
rs373310698
|
|
NM_178857.6(RP1L1):c.3582G>A (p.Thr1194=)
|
|
|
NM_178857.6(RP1L1):c.4004G>C (p.Gly1335Ala)
|
|
|
NM_178857.6(RP1L1):c.4150G>C (p.Gly1384Arg)
|
|
|
NM_178857.6(RP1L1):c.4440G>T (p.Pro1480=)
|
rs76720252
|
|
NM_178857.6(RP1L1):c.4671G>A (p.Ala1557=)
|
rs150438402
|
|
NM_178857.6(RP1L1):c.4699C>T (p.Arg1567Cys)
|
|
|
NM_178857.6(RP1L1):c.4769C>T (p.Pro1590Leu)
|
|
|
NM_178857.6(RP1L1):c.5160T>C (p.Thr1720=)
|
|
|
NM_178857.6(RP1L1):c.5771C>A (p.Ala1924Asp)
|
rs774309647
|
|
NM_178857.6(RP1L1):c.5983C>A (p.Pro1995Thr)
|
|
|
NM_178857.6(RP1L1):c.631C>T (p.Leu211=)
|
rs780247256
|
|
NM_178857.6(RP1L1):c.6548C>A (p.Pro2183Gln)
|
|
|
NM_178857.6(RP1L1):c.6618A>G (p.Gln2206=)
|
|
|
NM_178857.6(RP1L1):c.994G>A (p.Val332Ile)
|
|
|
NM_178857.6(RP1L1):c.995T>C (p.Val332Ala)
|
|
|
NM_201253.3(CRB1):c.2677-446T>C
|
|
|
NM_201253.3(CRB1):c.3258T>A (p.Ala1086=)
|
rs535494663
|
|
NM_201548.5(CERKL):c.1143G>A (p.Gln381=)
|
rs1574435800
|
|
NM_201548.5(CERKL):c.1449GGA[3] (p.Glu486del)
|
|
|
NM_206933.4(USH2A):c.10532A>G (p.Asp3511Gly)
|
|
|
NM_206933.4(USH2A):c.11468T>C (p.Val3823Ala)
|
|
|
NM_206933.4(USH2A):c.11862G>C (p.Leu3954=)
|
rs1486960561
|
|
NM_206933.4(USH2A):c.14518C>T (p.Leu4840=)
|
rs1656939166
|
|
NM_206933.4(USH2A):c.14916C>T (p.Arg4972=)
|
|
|
NM_206933.4(USH2A):c.4062A>G (p.Ser1354=)
|
rs1173545767
|
|
NM_206933.4(USH2A):c.5459T>C (p.Met1820Thr)
|
rs201643378
|
|
NM_206933.4(USH2A):c.7428C>T (p.Gly2476=)
|
rs150372183
|
|
NM_206933.4(USH2A):c.9770A>G (p.Asn3257Ser)
|
|
|
NM_207352.4(CYP4V2):c.1338C>T (p.Pro446=)
|
rs35524919
|
|