NM_001142800.2(EYS):c.4256T>C (p.Leu1419Ser)
|
rs624851
|
0.77065
|
NM_001142800.2(EYS):c.2555T>C (p.Leu852Pro)
|
rs9294631
|
0.67363
|
NM_001142800.2(EYS):c.1146T>C (p.Asn382=)
|
rs974110
|
0.52503
|
NM_001142800.2(EYS):c.1809C>T (p.Val603=)
|
rs9345601
|
0.50550
|
NM_001142800.2(EYS):c.1891G>A (p.Gly631Ser)
|
rs9342464
|
0.50535
|
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln)
|
rs4710457
|
0.35152
|
NM_001142800.2(EYS):c.5705A>T (p.Asn1902Ile)
|
rs9353806
|
0.27343
|
NM_001142800.2(EYS):c.1922A>T (p.Glu641Val)
|
rs17411795
|
0.16501
|
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg)
|
rs61753610
|
0.12981
|
NM_001142800.2(EYS):c.3906C>T (p.His1302=)
|
rs12663916
|
0.10887
|
NM_001142800.2(EYS):c.5244A>C (p.Leu1748Phe)
|
rs57312007
|
0.10595
|
NM_001142800.2(EYS):c.3936A>G (p.Thr1312=)
|
rs12662610
|
0.10143
|
NM_001142800.2(EYS):c.4352T>C (p.Ile1451Thr)
|
rs62415828
|
0.09865
|
NM_001142800.2(EYS):c.4026C>T (p.Ser1342=)
|
rs12663619
|
0.09859
|
NM_001142800.2(EYS):c.4593G>A (p.Glu1531=)
|
rs62415825
|
0.09856
|
NM_001142800.2(EYS):c.4081A>G (p.Ile1361Val)
|
rs17403955
|
0.09853
|
NM_001142800.2(EYS):c.3787A>G (p.Ile1263Val)
|
rs17404123
|
0.09852
|
NM_001142800.2(EYS):c.3973C>G (p.Gln1325Glu)
|
rs12663622
|
0.09847
|
NM_001142800.2(EYS):c.4543C>T (p.Arg1515Trp)
|
rs62415827
|
0.09842
|
NM_001142800.2(EYS):c.4549A>G (p.Ser1517Gly)
|
rs62415826
|
0.09832
|
NM_001142800.2(EYS):c.5617C>G (p.Leu1873Val)
|
rs16895517
|
0.09577
|
NM_001142800.2(EYS):c.7666A>T (p.Ser2556Cys)
|
rs66462731
|
0.08861
|
NM_001142800.2(EYS):c.1766+2642A>C
|
rs12207746
|
0.07122
|
NM_001142800.2(EYS):c.2733T>C (p.Asn911=)
|
rs75634595
|
0.01917
|
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn)
|
rs112822256
|
0.00379
|
NM_001142800.2(EYS):c.788A>G (p.His263Arg)
|
rs139517572
|
0.00213
|
NM_001142800.2(EYS):c.1985G>T (p.Arg662Met)
|
rs144430026
|
0.00193
|
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val)
|
rs147641443
|
0.00192
|
NM_001142800.2(EYS):c.7737T>C (p.Thr2579=)
|
rs191846522
|
0.00175
|
NM_001142800.2(EYS):c.5474C>A (p.Thr1825Asn)
|
rs182151153
|
0.00132
|
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly)
|
rs188093810
|
0.00124
|
NM_001142800.2(EYS):c.5233G>A (p.Asp1745Asn)
|
rs145274061
|
0.00118
|
NM_001142800.2(EYS):c.2039T>C (p.Ile680Thr)
|
rs376807770
|
0.00108
|
NM_001142800.2(EYS):c.748+6A>T
|
rs373742788
|
0.00096
|
NM_001142800.2(EYS):c.3489T>A (p.Asn1163Lys)
|
rs150951106
|
0.00076
|
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser)
|
rs201652272
|
0.00066
|
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)
|
rs143994166
|
0.00064
|
NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro)
|
rs778646190
|
0.00049
|
NM_001142800.2(EYS):c.4402G>C (p.Asp1468His)
|
rs778752557
|
0.00049
|
NM_001142800.2(EYS):c.2024-15T>C
|
rs561166342
|
0.00046
|
NM_001142800.2(EYS):c.2068T>A (p.Cys690Ser)
|
rs370950723
|
0.00042
|
NM_001142800.2(EYS):c.3586T>C (p.Cys1196Arg)
|
rs374409854
|
0.00036
|
NM_001142800.2(EYS):c.4363A>G (p.Ile1455Val)
|
rs183144150
|
0.00034
|
NM_001142800.2(EYS):c.2596T>C (p.Cys866Arg)
|
rs369966951
|
0.00029
|
NM_001142800.2(EYS):c.3443+1G>T
|
rs373441420
|
0.00022
|
NM_001142800.2(EYS):c.2822G>T (p.Gly941Val)
|
rs749101387
|
0.00019
|
NM_001142800.2(EYS):c.1766+2645G>A
|
rs369906234
|
0.00017
|
NM_001142800.2(EYS):c.1673G>A (p.Trp558Ter)
|
rs201823777
|
0.00012
|
NM_001142800.2(EYS):c.1382G>A (p.Cys461Tyr)
|
rs76754818
|
0.00011
|
NM_001142800.2(EYS):c.7609G>A (p.Ala2537Thr)
|
rs189406424
|
0.00010
|
NM_001142800.2(EYS):c.2259C>T (p.Leu753=)
|
rs781359405
|
0.00008
|
NM_001142800.2(EYS):c.5928-2A>G
|
rs181169439
|
0.00008
|
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr)
|
rs749909863
|
0.00007
|
NM_001142800.2(EYS):c.7811G>A (p.Arg2604His)
|
rs368798160
|
0.00007
|
NM_001142800.2(EYS):c.881C>G (p.Ser294Ter)
|
rs752683070
|
0.00007
|
NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter)
|
rs760798455
|
0.00006
|
NM_001142800.2(EYS):c.2953_2961del (p.Thr985_Gly987del)
|
rs756068592
|
0.00006
|
NM_001142800.2(EYS):c.3454G>A (p.Gly1152Arg)
|
rs371491059
|
0.00006
|
NM_001142800.2(EYS):c.35T>C (p.Met12Thr)
|
rs755947942
|
0.00006
|
NM_001142800.2(EYS):c.4046G>A (p.Arg1349Gln)
|
rs368698537
|
0.00006
|
NM_001142800.2(EYS):c.6410G>A (p.Arg2137His)
|
rs369090261
|
0.00006
|
NM_001142800.2(EYS):c.2028G>A (p.Thr676=)
|
rs758722034
|
0.00005
|
NM_001142800.2(EYS):c.586A>C (p.Lys196Gln)
|
rs749038401
|
0.00005
|
NM_001142800.2(EYS):c.8107G>T (p.Glu2703Ter)
|
rs184722374
|
0.00005
|
NM_001142800.2(EYS):c.220del (p.Val74fs)
|
rs1375767063
|
0.00004
|
NM_001142800.2(EYS):c.2545C>T (p.Arg849Cys)
|
rs369347845
|
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.6557G>A (p.Gly2186Glu)
|
rs527236068
|
0.00004
|
NM_001142800.2(EYS):c.6874A>C (p.Asn2292His)
|
rs906094515
|
0.00004
|
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter)
|
rs398123575
|
0.00004
|
NM_001142800.2(EYS):c.7422C>T (p.Gly2474=)
|
rs760224932
|
0.00004
|
NM_001142800.2(EYS):c.7454G>A (p.Gly2485Asp)
|
rs560012389
|
0.00004
|
NM_001142800.2(EYS):c.7492G>C (p.Ala2498Pro)
|
rs1311193836
|
0.00004
|
NM_001142800.2(EYS):c.77G>A (p.Arg26Gln)
|
rs528733427
|
0.00004
|
NM_001142800.2(EYS):c.7949C>T (p.Ser2650Phe)
|
rs374714909
|
0.00004
|
NM_001142800.2(EYS):c.967G>T (p.Gly323Ter)
|
rs746499646
|
0.00004
|
NM_001142800.2(EYS):c.2886C>G (p.Phe962Leu)
|
rs766153322
|
0.00003
|
NM_001142800.2(EYS):c.3243+1G>A
|
rs1300490966
|
0.00003
|
NM_001142800.2(EYS):c.3809T>G (p.Val1270Gly)
|
rs368856942
|
0.00003
|
NM_001142800.2(EYS):c.5777A>G (p.Asp1926Gly)
|
rs727503922
|
0.00003
|
NM_001142800.2(EYS):c.6010G>A (p.Gly2004Arg)
|
rs535282640
|
0.00003
|
NM_001142800.2(EYS):c.6562A>G (p.Ile2188Val)
|
rs184448644
|
0.00003
|
NM_001142800.2(EYS):c.6714del (p.Ile2239fs)
|
rs752953889
|
0.00003
|
NM_001142800.2(EYS):c.7394C>G (p.Thr2465Ser)
|
rs145184183
|
0.00003
|
NM_001142800.2(EYS):c.7810C>T (p.Arg2604Cys)
|
rs1015857165
|
0.00003
|
NM_001142800.2(EYS):c.7994G>A (p.Gly2665Glu)
|
rs1435861529
|
0.00003
|
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter)
|
rs779983752
|
0.00003
|
NM_001142800.2(EYS):c.-448+5G>A
|
rs1175129177
|
0.00002
|
NM_001142800.2(EYS):c.1929T>C (p.Asp643=)
|
rs1412901872
|
0.00002
|
NM_001142800.2(EYS):c.2259+1G>A
|
rs752736741
|
0.00002
|
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu)
|
rs74419361
|
0.00002
|
NM_001142800.2(EYS):c.32dup (p.Met12fs)
|
rs779372264
|
0.00002
|
NM_001142800.2(EYS):c.5101C>T (p.Leu1701=)
|
rs776193099
|
0.00002
|
NM_001142800.2(EYS):c.8182G>A (p.Ala2728Thr)
|
rs995862502
|
0.00002
|
NM_001142800.2(EYS):c.1005G>T (p.Glu335Asp)
|
rs80095433
|
0.00001
|
NM_001142800.2(EYS):c.1056+1G>A
|
rs1195522061
|
0.00001
|
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter)
|
rs1471994744
|
0.00001
|
NM_001142800.2(EYS):c.1539T>C (p.Tyr513=)
|
rs778180391
|
0.00001
|
NM_001142800.2(EYS):c.1982T>A (p.Leu661Ter)
|
rs1295206142
|
0.00001
|
NM_001142800.2(EYS):c.2287T>C (p.Trp763Arg)
|
rs886061684
|
0.00001
|
NM_001142800.2(EYS):c.2318A>G (p.Asn773Ser)
|
rs1769270358
|
0.00001
|
NM_001142800.2(EYS):c.2326A>G (p.Lys776Glu)
|
rs1393913948
|
0.00001
|
NM_001142800.2(EYS):c.2380C>T (p.Arg794Ter)
|
rs371032798
|
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.2826_2827del (p.Val944fs)
|
rs878853349
|
0.00001
|
NM_001142800.2(EYS):c.2892A>C (p.Glu964Asp)
|
rs762212630
|
0.00001
|
NM_001142800.2(EYS):c.2964C>G (p.Tyr988Ter)
|
rs1245121527
|
0.00001
|
NM_001142800.2(EYS):c.3003T>A (p.Cys1001Ter)
|
rs1389794536
|
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.4199C>A (p.Ser1400Ter)
|
rs1245304444
|
0.00001
|
NM_001142800.2(EYS):c.4452G>A (p.Trp1484Ter)
|
rs1428994453
|
0.00001
|
NM_001142800.2(EYS):c.491G>A (p.Arg164Gln)
|
rs755752918
|
0.00001
|
NM_001142800.2(EYS):c.4955C>G (p.Ser1652Ter)
|
rs909730457
|
0.00001
|
NM_001142800.2(EYS):c.5955G>A (p.Glu1985=)
|
rs1316970477
|
0.00001
|
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter)
|
rs797045089
|
0.00001
|
NM_001142800.2(EYS):c.6563T>C (p.Ile2188Thr)
|
rs1562190751
|
0.00001
|
NM_001142800.2(EYS):c.6888T>C (p.His2296=)
|
rs1357255596
|
0.00001
|
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter)
|
rs1060499783
|
0.00001
|
NM_001142800.2(EYS):c.7065A>C (p.Glu2355Asp)
|
rs749617474
|
0.00001
|
NM_001142800.2(EYS):c.7568G>A (p.Gly2523Asp)
|
rs1266932220
|
0.00001
|
NM_001142800.2(EYS):c.7578+1G>A
|
rs1228475082
|
0.00001
|
NM_001142800.2(EYS):c.7713T>C (p.Asn2571=)
|
rs1266571823
|
0.00001
|
NM_001142800.2(EYS):c.7721A>C (p.Gln2574Pro)
|
rs1353713143
|
0.00001
|
NM_001142800.2(EYS):c.7822C>T (p.Gln2608Ter)
|
rs1770111064
|
0.00001
|
NM_001142800.2(EYS):c.7899C>A (p.Tyr2633Ter)
|
rs1197863938
|
0.00001
|
NM_001142800.2(EYS):c.7919G>A (p.Trp2640Ter)
|
rs527236066
|
0.00001
|
NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter)
|
rs527236076
|
0.00001
|
NM_001142800.2(EYS):c.8120T>G (p.Met2707Arg)
|
rs757841530
|
0.00001
|
NM_001142800.2(EYS):c.8143C>T (p.Arg2715Ter)
|
rs1299355731
|
0.00001
|
NM_001142800.2(EYS):c.8151G>A (p.Lys2717=)
|
rs983603381
|
0.00001
|
NM_001142800.2(EYS):c.8206G>C (p.Ala2736Pro)
|
rs1250317776
|
0.00001
|
NM_001142800.1(EYS):c.(2259+1_2260-1)_(2381+1_?)del
|
|
|
NM_001142800.1:c.(2023+1_2024-1)_(3443+1_3444-1)del
|
|
|
NM_001142800.2(EYS):c.-453G>T
|
rs1769909552
|
|
NM_001142800.2(EYS):c.1068C>A (p.Cys356Ter)
|
rs1766556883
|
|
NM_001142800.2(EYS):c.1153T>G (p.Cys385Gly)
|
|
|
NM_001142800.2(EYS):c.116_117del (p.Tyr39fs)
|
|
|
NM_001142800.2(EYS):c.1207A>T (p.Lys403Ter)
|
rs1765728504
|
|
NM_001142800.2(EYS):c.1211del (p.Asn404fs)
|
rs764163418
|
|
NM_001142800.2(EYS):c.1211dup (p.Asn404fs)
|
rs764163418
|
|
NM_001142800.2(EYS):c.1222del (p.Ala408fs)
|
rs1765727233
|
|
NM_001142800.2(EYS):c.1294T>C (p.Phe432Leu)
|
|
|
NM_001142800.2(EYS):c.1299+1G>T
|
rs199830721
|
|
NM_001142800.2(EYS):c.137C>T (p.Thr46Ile)
|
|
|
NM_001142800.2(EYS):c.141A>T (p.Glu47Asp)
|
rs267601099
|
|
NM_001142800.2(EYS):c.1485G>C (p.Gly495=)
|
|
|
NM_001142800.2(EYS):c.1487_1492del (p.Val496_Ile497del)
|
|
|
NM_001142800.2(EYS):c.1493_1494insAAAG (p.Asp498fs)
|
|
|
NM_001142800.2(EYS):c.1659A>G (p.Leu553=)
|
|
|
NM_001142800.2(EYS):c.1763C>G (p.Pro588Arg)
|
|
|
NM_001142800.2(EYS):c.1766+2635G>A
|
|
|
NM_001142800.2(EYS):c.1766+2645del
|
|
|
NM_001142800.2(EYS):c.1784_1787del (p.Ser595fs)
|
rs1768657480
|
|
NM_001142800.2(EYS):c.179del (p.Leu60fs)
|
rs786205652
|
|
NM_001142800.2(EYS):c.1871C>A (p.Ser624Ter)
|
rs548565748
|
|
NM_001142800.2(EYS):c.1A>C (p.Met1Leu)
|
|
|
NM_001142800.2(EYS):c.2000G>A (p.Arg667His)
|
rs549456693
|
|
NM_001142800.2(EYS):c.2023+1G>T
|
|
|
NM_001142800.2(EYS):c.2024-13del
|
rs761134985
|
|
NM_001142800.2(EYS):c.2045T>C (p.Ile682Thr)
|
|
|
NM_001142800.2(EYS):c.205del (p.Ser69fs)
|
|
|
NM_001142800.2(EYS):c.2086T>G (p.Cys696Gly)
|
|
|
NM_001142800.2(EYS):c.216del (p.Ala73fs)
|
rs1459031771
|
|
NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter)
|
rs794727120
|
|
NM_001142800.2(EYS):c.2227G>C (p.Glu743Gln)
|
|
|
NM_001142800.2(EYS):c.2340C>A (p.Cys780Ter)
|
|
|
NM_001142800.2(EYS):c.2359del (p.Thr787fs)
|
|
|
NM_001142800.2(EYS):c.2381+1G>A
|
rs1769267226
|
|
NM_001142800.2(EYS):c.2399G>T (p.Gly800Val)
|
|
|
NM_001142800.2(EYS):c.2518C>T (p.Leu840Phe)
|
|
|
NM_001142800.2(EYS):c.2527G>A (p.Gly843Arg)
|
rs2150076826
|
|
NM_001142800.2(EYS):c.2641G>A (p.Glu881Lys)
|
rs1768029780
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NM_001142800.2(EYS):c.2652dup (p.Lys885Ter)
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rs1767699695
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NM_001142800.2(EYS):c.2677G>A (p.Asp893Asn)
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NM_001142800.2(EYS):c.2923T>C (p.Cys975Arg)
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NM_001142800.2(EYS):c.2941T>A (p.Cys981Ser)
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NM_001142800.2(EYS):c.2976T>A (p.Cys992Ter)
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rs1554214453
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NM_001142800.2(EYS):c.2980C>G (p.Pro994Ala)
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NM_001142800.2(EYS):c.3046G>T (p.Asp1016Tyr)
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NM_001142800.2(EYS):c.3071A>G (p.Asn1024Ser)
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rs1764937585
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NM_001142800.2(EYS):c.3149C>T (p.Pro1050Leu)
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NM_001142800.2(EYS):c.3227_3243+1del
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NM_001142800.2(EYS):c.3349del (p.Ser1117fs)
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NM_001142800.2(EYS):c.334G>C (p.Val112Leu)
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rs112609906
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NM_001142800.2(EYS):c.3441C>A (p.Cys1147Ter)
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rs2150016080
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NM_001142800.2(EYS):c.3533A>G (p.Asp1178Gly)
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NM_001142800.2(EYS):c.3549T>G (p.Tyr1183Ter)
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rs1767601715
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NM_001142800.2(EYS):c.3568+1G>A
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rs1767600988
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NM_001142800.2(EYS):c.3581_3582del (p.His1194fs)
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rs1767312015
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NM_001142800.2(EYS):c.3595G>T (p.Glu1199Ter)
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NM_001142800.2(EYS):c.359C>T (p.Thr120Met)
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rs12193967
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NM_001142800.2(EYS):c.3684G>C (p.Met1228Ile)
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NM_001142800.2(EYS):c.3714T>A (p.Asp1238Glu)
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NM_001142800.2(EYS):c.3736_3737del (p.Leu1246fs)
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NM_001142800.2(EYS):c.4011_4012del (p.His1337fs)
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rs2149832523
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NM_001142800.2(EYS):c.410del (p.Asn137fs)
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NM_001142800.2(EYS):c.4128A>T (p.Ser1376=)
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NM_001142800.2(EYS):c.4294C>T (p.Pro1432Ser)
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NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs)
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rs761238771
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NM_001142800.2(EYS):c.4393G>T (p.Ala1465Ser)
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rs747921119
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NM_001142800.2(EYS):c.4393dup (p.Ala1465fs)
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rs750840208
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NM_001142800.2(EYS):c.4455A>G (p.Arg1485=)
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rs755759273
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NM_001142800.2(EYS):c.4469C>T (p.Ser1490Leu)
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NM_001142800.2(EYS):c.449del (p.Thr150fs)
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NM_001142800.2(EYS):c.4518del (p.Ile1507fs)
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rs1766404452
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NM_001142800.2(EYS):c.4557del (p.Ala1520fs)
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rs768092887
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NM_001142800.2(EYS):c.4625A>G (p.Lys1542Arg)
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NM_001142800.2(EYS):c.462T>A (p.Ser154Arg)
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NM_001142800.2(EYS):c.4795C>T (p.Leu1599=)
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NM_001142800.2(EYS):c.4859C>G (p.Ser1620Ter)
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NM_001142800.2(EYS):c.4897A>G (p.Lys1633Glu)
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NM_001142800.2(EYS):c.4957dup (p.Ser1653fs)
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rs527236065
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NM_001142800.2(EYS):c.4977A>G (p.Leu1659=)
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NM_001142800.2(EYS):c.4993_4994delinsA (p.Cys1665fs)
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rs1766383947
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NM_001142800.2(EYS):c.5058A>G (p.Lys1686=)
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NM_001142800.2(EYS):c.5116C>G (p.Gln1706Glu)
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rs1221943541
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NM_001142800.2(EYS):c.5157dup (p.Glu1720fs)
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NM_001142800.2(EYS):c.5168dup (p.Leu1723fs)
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NM_001142800.2(EYS):c.525_527del (p.Glu176del)
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rs780433094
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NM_001142800.2(EYS):c.5263G>A (p.Asp1755Asn)
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rs772953910
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NM_001142800.2(EYS):c.5317_5342delinsTA (p.Asn1773_Val1781delinsTer)
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rs1554183440
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NM_001142800.2(EYS):c.5359G>A (p.Val1787Ile)
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NM_001142800.2(EYS):c.5630G>A (p.Arg1877Gln)
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rs780006257
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NM_001142800.2(EYS):c.5712A>C (p.Gln1904His)
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NM_001142800.2(EYS):c.5726T>A (p.Leu1909Gln)
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NM_001142800.2(EYS):c.5810T>G (p.Leu1937Trp)
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rs1774852530
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NM_001142800.2(EYS):c.5836-1G>C
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rs2150463984
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NM_001142800.2(EYS):c.5847C>A (p.Tyr1949Ter)
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rs1774743530
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NM_001142800.2(EYS):c.6026A>C (p.Lys2009Thr)
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NM_001142800.2(EYS):c.607C>T (p.Gln203Ter)
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rs1766182274
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NM_001142800.2(EYS):c.6109T>C (p.Cys2037Arg)
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NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter)
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rs878853350
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NM_001142800.2(EYS):c.6191+2T>C
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rs1769469813
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NM_001142800.2(EYS):c.632G>A (p.Cys211Tyr)
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NM_001142800.2(EYS):c.6382T>C (p.Cys2128Arg)
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NM_001142800.2(EYS):c.6408C>T (p.Gly2136=)
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NM_001142800.2(EYS):c.6474G>T (p.Leu2158=)
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rs1383513366
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NM_001142800.2(EYS):c.6512G>A (p.Arg2171Lys)
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NM_001142800.2(EYS):c.6572G>T (p.Ser2191Ile)
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NM_001142800.2(EYS):c.6690C>T (p.Ser2230=)
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rs1771370327
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NM_001142800.2(EYS):c.6710C>A (p.Thr2237Asn)
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NM_001142800.2(EYS):c.6726-2973_6834+548del
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NM_001142800.2(EYS):c.6794del (p.Pro2265fs)
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rs758109813
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NM_001142800.2(EYS):c.6859G>A (p.Gly2287Ser)
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NM_001142800.2(EYS):c.6897_6902dup (p.Pro2301_Val2302insGlyPro)
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NM_001142800.2(EYS):c.7028T>A (p.Leu2343Gln)
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NM_001142800.2(EYS):c.7028_7029insTC (p.Cys2344fs)
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NM_001142800.2(EYS):c.7033C>T (p.Arg2345Cys)
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NM_001142800.2(EYS):c.7048del (p.Cys2350fs)
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rs527236069
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NM_001142800.2(EYS):c.7059T>C (p.Asp2353=)
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NM_001142800.2(EYS):c.7074T>C (p.Phe2358=)
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rs1772620298
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NM_001142800.2(EYS):c.7079A>G (p.Glu2360Gly)
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NM_001142800.2(EYS):c.7114T>C (p.Phe2372Leu)
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NM_001142800.2(EYS):c.7164A>C (p.Pro2388=)
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rs1233804845
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NM_001142800.2(EYS):c.7392dup (p.Thr2465fs)
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rs1770904723
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NM_001142800.2(EYS):c.7451A>T (p.Asn2484Ile)
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NM_001142800.2(EYS):c.749-1G>C
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rs368159852
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NM_001142800.2(EYS):c.749-2A>G
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rs1766011028
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NM_001142800.2(EYS):c.7665_7666del (p.Tyr2555_Ser2556delinsTer)
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NM_001142800.2(EYS):c.7726T>C (p.Cys2576Arg)
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NM_001142800.2(EYS):c.7736_7742del (p.Thr2579fs)
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rs1431427428
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NM_001142800.2(EYS):c.7748G>A (p.Arg2583His)
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rs564020009
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NM_001142800.2(EYS):c.7793G>A (p.Gly2598Asp)
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rs527236064
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NM_001142800.2(EYS):c.7807G>T (p.Gly2603Ter)
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NM_001142800.2(EYS):c.7815T>G (p.Ser2605Arg)
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NM_001142800.2(EYS):c.7836_7837del (p.Pro2613fs)
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NM_001142800.2(EYS):c.786dup (p.His263fs)
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rs1766009155
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NM_001142800.2(EYS):c.7873T>G (p.Cys2625Gly)
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NM_001142800.2(EYS):c.7902dup (p.Asn2635fs)
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NM_001142800.2(EYS):c.7997C>A (p.Ala2666Glu)
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NM_001142800.2(EYS):c.8035T>C (p.Cys2679Arg)
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rs1064797324
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NM_001142800.2(EYS):c.803del (p.Gly268fs)
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rs1766006937
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NM_001142800.2(EYS):c.8122_8125delinsG (p.Ser2708_Phe2709delinsVal)
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rs961817248
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NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs)
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rs751629543
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NM_001142800.2(EYS):c.8233+1G>C
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rs1768621810
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NM_001142800.2(EYS):c.942del (p.Ala315fs)
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