ClinVar Miner

List of variants in gene EYS studied for Retinal dystrophy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 381
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HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.4256T>C (p.Leu1419Ser) rs624851 0.76831
NM_001142800.2(EYS):c.2555T>C (p.Leu852Pro) rs9294631 0.66464
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 0.35062
NM_001142800.2(EYS):c.5705A>T (p.Asn1902Ile) rs9353806 0.27343
NM_001142800.2(EYS):c.1922A>T (p.Glu641Val) rs17411795 0.16264
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 0.10365
NM_001142800.2(EYS):c.4352T>C (p.Ile1451Thr) rs62415828 0.10103
NM_001142800.2(EYS):c.4026C>T (p.Ser1342=) rs12663619 0.10095
NM_001142800.2(EYS):c.4081A>G (p.Ile1361Val) rs17403955 0.10092
NM_001142800.2(EYS):c.3973C>G (p.Gln1325Glu) rs12663622 0.10085
NM_001142800.2(EYS):c.4593G>A (p.Glu1531=) rs62415825 0.09856
NM_001142800.2(EYS):c.3787A>G (p.Ile1263Val) rs17404123 0.09852
NM_001142800.2(EYS):c.4543C>T (p.Arg1515Trp) rs62415827 0.09842
NM_001142800.2(EYS):c.5617C>G (p.Leu1873Val) rs16895517 0.09833
NM_001142800.2(EYS):c.4549A>G (p.Ser1517Gly) rs62415826 0.09832
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 0.00350
NM_001142800.2(EYS):c.1985G>T (p.Arg662Met) rs144430026 0.00242
NM_001142800.2(EYS):c.788A>G (p.His263Arg) rs139517572 0.00202
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val) rs147641443 0.00192
NM_001142800.2(EYS):c.7737T>C (p.Thr2579=) rs191846522 0.00170
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp) rs201580493 0.00166
NM_001142800.2(EYS):c.1184+14T>C rs182780299 0.00140
NM_001142800.2(EYS):c.6632C>T (p.Ser2211Leu) rs145623359 0.00140
NM_001142800.2(EYS):c.5474C>A (p.Thr1825Asn) rs182151153 0.00128
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly) rs188093810 0.00120
NM_001142800.2(EYS):c.5233G>A (p.Asp1745Asn) rs145274061 0.00108
NM_001142800.2(EYS):c.2039T>C (p.Ile680Thr) rs376807770 0.00099
NM_001142800.2(EYS):c.748+6A>T rs373742788 0.00089
NM_001142800.2(EYS):c.3489T>A (p.Asn1163Lys) rs150951106 0.00076
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272 0.00068
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) rs143994166 0.00062
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.3586T>C (p.Cys1196Arg) rs374409854 0.00046
NM_001142800.2(EYS):c.2068T>A (p.Cys690Ser) rs370950723 0.00042
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_001142800.2(EYS):c.4363A>G (p.Ile1455Val) rs183144150 0.00034
NM_001142800.2(EYS):c.3568+5T>C rs539477235 0.00032
NM_001142800.2(EYS):c.1382G>A (p.Cys461Tyr) rs76754818 0.00030
NM_001142800.2(EYS):c.8080A>G (p.Ile2694Val) rs35504565 0.00029
NM_001142800.2(EYS):c.2822G>T (p.Gly941Val) rs749101387 0.00028
NM_001142800.2(EYS):c.2596T>C (p.Cys866Arg) rs369966951 0.00025
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) rs201819948 0.00023
NM_001142800.2(EYS):c.3443+1G>T rs373441420 0.00022
NM_001142800.2(EYS):c.4991C>T (p.Thr1664Ile) rs561830314 0.00021
NM_001142800.2(EYS):c.1766+2645G>A rs369906234 0.00017
NM_001142800.2(EYS):c.3695T>C (p.Ile1232Thr) rs146413074 0.00016
NM_001142800.2(EYS):c.7868G>A (p.Gly2623Glu) rs559824825 0.00015
NM_001142800.2(EYS):c.1673G>A (p.Trp558Ter) rs201823777 0.00012
NM_001142800.2(EYS):c.1466A>T (p.Glu489Val) rs140518088 0.00011
NM_001142800.2(EYS):c.6188G>T (p.Cys2063Phe) rs138123230 0.00011
NM_001142800.2(EYS):c.7609G>A (p.Ala2537Thr) rs189406424 0.00010
NM_001142800.2(EYS):c.2259C>T (p.Leu753=) rs781359405 0.00009
NM_001142800.2(EYS):c.5928-2A>G rs181169439 0.00009
NM_001142800.2(EYS):c.2953_2961del (p.Thr985_Gly987del) rs756068592 0.00008
NM_001142800.2(EYS):c.380G>T (p.Gly127Val) rs201076128 0.00007
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_001142800.2(EYS):c.6562A>G (p.Ile2188Val) rs184448644 0.00007
NM_001142800.2(EYS):c.7811G>A (p.Arg2604His) rs368798160 0.00007
NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter) rs760798455 0.00006
NM_001142800.2(EYS):c.3454G>A (p.Gly1152Arg) rs371491059 0.00006
NM_001142800.2(EYS):c.4046G>A (p.Arg1349Gln) rs368698537 0.00006
NM_001142800.2(EYS):c.5140A>C (p.Thr1714Pro) rs201916371 0.00006
NM_001142800.2(EYS):c.6410G>A (p.Arg2137His) rs369090261 0.00006
NM_001142800.2(EYS):c.6961A>C (p.Ile2321Leu) rs149823162 0.00006
NM_001142800.2(EYS):c.2381G>A (p.Arg794Gln) rs765364303 0.00005
NM_001142800.2(EYS):c.5411T>C (p.Ile1804Thr) rs368097230 0.00005
NM_001142800.2(EYS):c.586A>C (p.Lys196Gln) rs749038401 0.00005
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter) rs398123575 0.00005
NM_001142800.2(EYS):c.8107G>T (p.Glu2703Ter) rs184722374 0.00005
NM_001142800.2(EYS):c.881C>G (p.Ser294Ter) rs752683070 0.00005
NM_001142800.2(EYS):c.2028G>A (p.Thr676=) rs758722034 0.00004
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.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.7422C>T (p.Gly2474=) rs760224932 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.967G>T (p.Gly323Ter) rs746499646 0.00004
NM_001142800.2(EYS):c.2490T>C (p.Pro830=) rs150194717 0.00003
NM_001142800.2(EYS):c.2886C>G (p.Phe962Leu) rs766153322 0.00003
NM_001142800.2(EYS):c.2980C>G (p.Pro994Ala) rs749081001 0.00003
NM_001142800.2(EYS):c.3243+1G>A rs1300490966 0.00003
NM_001142800.2(EYS):c.35T>C (p.Met12Thr) rs755947942 0.00003
NM_001142800.2(EYS):c.3809T>G (p.Val1270Gly) rs368856942 0.00003
NM_001142800.2(EYS):c.3972C>T (p.Leu1324=) rs202130794 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.6714del (p.Ile2239fs) rs752953889 0.00003
NM_001142800.2(EYS):c.7228+1G>A rs758899480 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.7949C>T (p.Ser2650Phe) rs374714909 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.1763C>G (p.Pro588Arg) rs1033362579 0.00002
NM_001142800.2(EYS):c.1766+1G>T rs776204925 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.2892A>C (p.Glu964Asp) rs762212630 0.00002
NM_001142800.2(EYS):c.32dup (p.Met12fs) rs779372264 0.00002
NM_001142800.2(EYS):c.3533A>G (p.Asp1178Gly) rs748132633 0.00002
NM_001142800.2(EYS):c.4897A>G (p.Lys1633Glu) rs77523865 0.00002
NM_001142800.2(EYS):c.5484A>C (p.Lys1828Asn) rs996239133 0.00002
NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val) rs868349465 0.00002
NM_001142800.2(EYS):c.7033C>T (p.Arg2345Cys) rs756116965 0.00002
NM_001142800.2(EYS):c.7164A>C (p.Pro2388=) rs1233804845 0.00002
NM_001142800.2(EYS):c.7454G>A (p.Gly2485Asp) rs560012389 0.00002
NM_001142800.2(EYS):c.7994G>A (p.Gly2665Glu) rs1435861529 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.1294T>C (p.Phe432Leu) rs576022124 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.1929T>C (p.Asp643=) rs1412901872 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.2577T>C (p.Pro859=) rs1265766894 0.00001
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs) rs878853349 0.00001
NM_001142800.2(EYS):c.2964C>G (p.Tyr988Ter) rs1245121527 0.00001
NM_001142800.2(EYS):c.2992G>A (p.Gly998Ser) rs1010982936 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.3493T>C (p.Cys1165Arg) rs758971677 0.00001
NM_001142800.2(EYS):c.3779C>T (p.Thr1260Ile) rs759438157 0.00001
NM_001142800.2(EYS):c.3877+6T>C rs937888425 0.00001
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter) rs930421180 0.00001
NM_001142800.2(EYS):c.4128A>T (p.Ser1376=) rs1582930506 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.4469C>T (p.Ser1490Leu) rs752244384 0.00001
NM_001142800.2(EYS):c.4503A>G (p.Ile1501Met) rs765829827 0.00001
NM_001142800.2(EYS):c.490C>T (p.Arg164Ter) rs794727631 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.5054C>G (p.Ser1685Ter) rs1293996279 0.00001
NM_001142800.2(EYS):c.5101C>T (p.Leu1701=) rs776193099 0.00001
NM_001142800.2(EYS):c.5186A>C (p.Lys1729Thr) rs1378944082 0.00001
NM_001142800.2(EYS):c.5319_5342del (p.Asn1773_Val1781delinsLys) rs1447628856 0.00001
NM_001142800.2(EYS):c.583A>C (p.Ser195Arg) rs753945993 0.00001
NM_001142800.2(EYS):c.5955G>A (p.Glu1985=) rs1316970477 0.00001
NM_001142800.2(EYS):c.6047G>A (p.Gly2016Asp) rs886061672 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.6710C>A (p.Thr2237Asn) rs1771369385 0.00001
NM_001142800.2(EYS):c.6888T>C (p.His2296=) rs1357255596 0.00001
NM_001142800.2(EYS):c.6920G>A (p.Gly2307Asp) rs1171456122 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.7074T>C (p.Phe2358=) rs1772620298 0.00001
NM_001142800.2(EYS):c.7114T>C (p.Phe2372Leu) rs1255688743 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.7793G>A (p.Gly2598Asp) rs527236064 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.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_001142800.2(EYS):c.8233+8T>G rs886061666 0.00001
NM_001142800.2(EYS):c.96G>A (p.Trp32Ter) rs1388177618 0.00001
NC_000006.12:g.(65402477_65384501)_(65495411_?)del
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.1056+5G>C
NM_001142800.2(EYS):c.1068C>A (p.Cys356Ter) rs1766556883
NM_001142800.2(EYS):c.1153T>G (p.Cys385Gly) rs2150363774
NM_001142800.2(EYS):c.116_117del (p.Tyr39fs) rs2533030275
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.1299+1G>T rs199830721
NM_001142800.2(EYS):c.1299+3A>C
NM_001142800.2(EYS):c.1299+5_1299+8del rs1562140604
NM_001142800.2(EYS):c.1307_1310del (p.Cys436fs) rs2533203525
NM_001142800.2(EYS):c.1376del (p.Cys459fs)
NM_001142800.2(EYS):c.137C>T (p.Thr46Ile) rs1766213416
NM_001142800.2(EYS):c.141A>T (p.Glu47Asp) rs267601099
NM_001142800.2(EYS):c.1442G>A (p.Trp481Ter) rs2533202515
NM_001142800.2(EYS):c.1459+1G>T
NM_001142800.2(EYS):c.1485G>C (p.Gly495=) rs1224745720
NM_001142800.2(EYS):c.1487_1492del (p.Val496_Ile497del) rs2150319997
NM_001142800.2(EYS):c.1493_1494insAAAG (p.Asp498fs) rs2150319989
NM_001142800.2(EYS):c.150C>A (p.Cys50Ter)
NM_001142800.2(EYS):c.1529A>G (p.Asp510Gly)
NM_001142800.2(EYS):c.1659A>G (p.Leu553=) rs1398428010
NM_001142800.2(EYS):c.1697A>C (p.Asn566Thr)
NM_001142800.2(EYS):c.1699dup (p.Thr567fs)
NM_001142800.2(EYS):c.1762C>A (p.Pro588Thr) rs749363743
NM_001142800.2(EYS):c.1766+2635G>A rs1437998229
NM_001142800.2(EYS):c.1766+2645del rs2533126925
NM_001142800.2(EYS):c.1784_1787del (p.Ser595fs) rs1768657480
NM_001142800.2(EYS):c.1786T>C (p.Tyr596His) rs1409350172
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) rs2533031081
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.2(EYS):c.2023+1G>T rs980430860
NM_001142800.2(EYS):c.2024-13del rs761134985
NM_001142800.2(EYS):c.2045T>C (p.Ile682Thr) rs1371651341
NM_001142800.2(EYS):c.205del (p.Ser69fs) rs1766207854
NM_001142800.2(EYS):c.2086T>G (p.Cys696Gly) rs983851499
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) rs757689268
NM_001142800.2(EYS):c.2280_2283del (p.Ser761fs) rs2533459473
NM_001142800.2(EYS):c.2340C>A (p.Cys780Ter) rs2533459312
NM_001142800.2(EYS):c.2359del (p.Thr787fs) rs2533459254
NM_001142800.2(EYS):c.2381+1G>A rs1769267226
NM_001142800.2(EYS):c.2382-5T>A
NM_001142800.2(EYS):c.2399G>T (p.Gly800Val) rs2150076935
NM_001142800.2(EYS):c.2518C>T (p.Leu840Phe) rs529106342
NM_001142800.2(EYS):c.2527G>A (p.Gly843Arg) rs2150076826
NM_001142800.2(EYS):c.2641G>A (p.Glu881Lys) rs1768029780
NM_001142800.2(EYS):c.2652dup (p.Lys885Ter) rs1767699695
NM_001142800.2(EYS):c.2677G>A (p.Asp893Asn) rs2533360143
NM_001142800.2(EYS):c.2799del (p.Ser934fs)
NM_001142800.2(EYS):c.2829T>A (p.Cys943Ter) rs2533358904
NM_001142800.2(EYS):c.2854del (p.Cys952fs) rs779877426
NM_001142800.2(EYS):c.2923T>A (p.Cys975Ser)
NM_001142800.2(EYS):c.2923T>C (p.Cys975Arg) rs200164885
NM_001142800.2(EYS):c.2941T>A (p.Cys981Ser) rs1767100391
NM_001142800.2(EYS):c.2976T>A (p.Cys992Ter) rs1554214453
NM_001142800.2(EYS):c.3002G>A (p.Cys1001Tyr) rs1457187385
NM_001142800.2(EYS):c.3046G>T (p.Asp1016Tyr) rs2533169350
NM_001142800.2(EYS):c.3071A>G (p.Asn1024Ser) rs1764937585
NM_001142800.2(EYS):c.3149C>T (p.Pro1050Leu) rs1273535717
NM_001142800.2(EYS):c.3167G>T (p.Cys1056Phe)
NM_001142800.2(EYS):c.3227_3243+1del rs2533165731
NM_001142800.2(EYS):c.3304A>G (p.Thr1102Ala)
NM_001142800.2(EYS):c.3349del (p.Ser1117fs) rs1370598098
NM_001142800.2(EYS):c.334G>C (p.Val112Leu) rs112609906
NM_001142800.2(EYS):c.3441C>A (p.Cys1147Ter) rs2150016080
NM_001142800.2(EYS):c.3503C>A (p.Ser1168Ter) rs894122437
NM_001142800.2(EYS):c.3549T>G (p.Tyr1183Ter) rs1767601715
NM_001142800.2(EYS):c.3562C>T (p.Gln1188Ter) rs2149856749
NM_001142800.2(EYS):c.3568+1G>A rs1767600988
NM_001142800.2(EYS):c.3581_3582del (p.His1194fs) rs1767312015
NM_001142800.2(EYS):c.3595G>T (p.Glu1199Ter) rs2149849538
NM_001142800.2(EYS):c.359C>T (p.Thr120Met) rs12193967
NM_001142800.2(EYS):c.3612_3625del (p.Pro1204_Asn1205insTer)
NM_001142800.2(EYS):c.3647A>C (p.Glu1216Ala)
NM_001142800.2(EYS):c.3684G>C (p.Met1228Ile) rs1767308310
NM_001142800.2(EYS):c.3714T>A (p.Asp1238Glu) rs1766469574
NM_001142800.2(EYS):c.3736_3737del (p.Leu1246fs) rs2533158884
NM_001142800.2(EYS):c.3954del (p.Leu1319fs)
NM_001142800.2(EYS):c.4011_4012del (p.His1337fs) rs2149832523
NM_001142800.2(EYS):c.410del (p.Asn137fs) rs2533028845
NM_001142800.2(EYS):c.4294C>T (p.Pro1432Ser) rs2533154376
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.4392_4393del (p.Ala1465fs) rs750840208
NM_001142800.2(EYS):c.4393G>T (p.Ala1465Ser) rs747921119
NM_001142800.2(EYS):c.4393dup (p.Ala1465fs) rs750840208
NM_001142800.2(EYS):c.4455A>G (p.Arg1485=) rs755759273
NM_001142800.2(EYS):c.449del (p.Thr150fs) rs2533028727
NM_001142800.2(EYS):c.4518del (p.Ile1507fs) rs1766404452
NM_001142800.2(EYS):c.4557del (p.Ala1520fs) rs768092887
NM_001142800.2(EYS):c.4613_4616del (p.Leu1538fs) rs1582929649
NM_001142800.2(EYS):c.4625A>G (p.Lys1542Arg) rs2533153052
NM_001142800.2(EYS):c.462T>A (p.Ser154Arg) rs1291530765
NM_001142800.2(EYS):c.4727A>G (p.His1576Arg)
NM_001142800.2(EYS):c.4760G>A (p.Trp1587Ter) rs2149831862
NM_001142800.2(EYS):c.4786T>G (p.Trp1596Gly)
NM_001142800.2(EYS):c.4795C>T (p.Leu1599=) rs1766391149
NM_001142800.2(EYS):c.4815_4816delinsATAG (p.Thr1606Ter)
NM_001142800.2(EYS):c.4859C>G (p.Ser1620Ter) rs2533151871
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs) rs527236065
NM_001142800.2(EYS):c.4977A>G (p.Leu1659=) rs1357890818
NM_001142800.2(EYS):c.4993_4994delinsA (p.Cys1665fs) rs1766383947
NM_001142800.2(EYS):c.5058A>G (p.Lys1686=) rs1352736189
NM_001142800.2(EYS):c.5116C>G (p.Gln1706Glu) rs1221943541
NM_001142800.2(EYS):c.5129del (p.Thr1710fs)
NM_001142800.2(EYS):c.5157dup (p.Glu1720fs) rs2533150519
NM_001142800.2(EYS):c.5168dup (p.Leu1723fs) rs2533150485
NM_001142800.2(EYS):c.5188G>A (p.Gly1730Arg)
NM_001142800.2(EYS):c.525_527del (p.Glu176del) rs780433094
NM_001142800.2(EYS):c.5263G>A (p.Asp1755Asn) rs772953910
NM_001142800.2(EYS):c.5317_5342delinsTA (p.Asn1773_Val1781delinsTer) rs1554183440
NM_001142800.2(EYS):c.5359G>A (p.Val1787Ile) rs756545975
NM_001142800.2(EYS):c.5413C>T (p.Gln1805Ter) rs1766367970
NM_001142800.2(EYS):c.5546A>G (p.Gln1849Arg)
NM_001142800.2(EYS):c.5630G>A (p.Arg1877Gln) rs780006257
NM_001142800.2(EYS):c.5666del (p.Tyr1889fs) rs2533226453
NM_001142800.2(EYS):c.5712A>C (p.Gln1904His) rs2533226282
NM_001142800.2(EYS):c.5726T>A (p.Leu1909Gln) rs2533226217
NM_001142800.2(EYS):c.5810T>G (p.Leu1937Trp) rs1774852530
NM_001142800.2(EYS):c.5836-1G>C rs2150463984
NM_001142800.2(EYS):c.5847C>A (p.Tyr1949Ter) rs1774743530
NM_001142800.2(EYS):c.5918dup (p.Leu1974fs)
NM_001142800.2(EYS):c.6026A>C (p.Lys2009Thr) rs2533088335
NM_001142800.2(EYS):c.602A>G (p.His201Arg) rs1011260787
NM_001142800.2(EYS):c.6078+3A>G rs1400181347
NM_001142800.2(EYS):c.607C>T (p.Gln203Ter) rs1766182274
NM_001142800.2(EYS):c.6109T>C (p.Cys2037Arg) rs1769477520
NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter) rs878853350
NM_001142800.2(EYS):c.6191+2T>C rs1769469813
NM_001142800.2(EYS):c.632G>A (p.Cys211Tyr) rs772707303
NM_001142800.2(EYS):c.6331G>A (p.Gly2111Arg)
NM_001142800.2(EYS):c.6365G>T (p.Gly2122Val)
NM_001142800.2(EYS):c.6382T>C (p.Cys2128Arg) rs1442903470
NM_001142800.2(EYS):c.6408C>T (p.Gly2136=) rs2533946314
NM_001142800.2(EYS):c.6474G>T (p.Leu2158=) rs1383513366
NM_001142800.2(EYS):c.6482del (p.Phe2160_Leu2161insTer)
NM_001142800.2(EYS):c.6512G>A (p.Arg2171Lys) rs746770940
NM_001142800.2(EYS):c.6544_6547del (p.Asn2182fs) rs1488052513
NM_001142800.2(EYS):c.6572G>T (p.Ser2191Ile) rs1771377862
NM_001142800.2(EYS):c.6634G>C (p.Val2212Leu) rs2149855714
NM_001142800.2(EYS):c.6690C>T (p.Ser2230=) rs1771370327
NM_001142800.2(EYS):c.6726-2973_6834+548del
NM_001142800.2(EYS):c.6794del (p.Pro2265fs) rs758109813
NM_001142800.2(EYS):c.6859G>A (p.Gly2287Ser) rs2533329899
NM_001142800.2(EYS):c.6897_6902dup (p.Pro2301_Val2302insGlyPro) rs2533329717
NM_001142800.2(EYS):c.694del (p.Arg232fs) rs2533027394
NM_001142800.2(EYS):c.7028T>A (p.Leu2343Gln) rs2533328956
NM_001142800.2(EYS):c.7028_7029insTC (p.Cys2344fs) rs2533328947
NM_001142800.2(EYS):c.7048del (p.Cys2350fs) rs527236069
NM_001142800.2(EYS):c.7059T>C (p.Asp2353=) rs771265979
NM_001142800.2(EYS):c.7079A>G (p.Glu2360Gly) rs2532982875
NM_001142800.2(EYS):c.7131del (p.Asn2377fs)
NM_001142800.2(EYS):c.7228_7228+1delinsTA rs1772614934
NM_001142800.2(EYS):c.732T>A (p.Cys244Ter) rs1562220891
NM_001142800.2(EYS):c.7352C>G (p.Ala2451Gly)
NM_001142800.2(EYS):c.7392dup (p.Thr2465fs) rs1770904723
NM_001142800.2(EYS):c.7451A>T (p.Asn2484Ile) rs1474267929
NM_001142800.2(EYS):c.749-1G>C rs368159852
NM_001142800.2(EYS):c.749-2A>G rs1766011028
NM_001142800.2(EYS):c.7665_7666del (p.Tyr2555_Ser2556delinsTer) rs2149670355
NM_001142800.2(EYS):c.7726T>C (p.Cys2576Arg) rs2533518029
NM_001142800.2(EYS):c.7736_7742del (p.Thr2579fs) rs1431427428
NM_001142800.2(EYS):c.7748G>A (p.Arg2583His) rs564020009
NM_001142800.2(EYS):c.7807G>T (p.Gly2603Ter) rs2533517681
NM_001142800.2(EYS):c.7815T>G (p.Ser2605Arg) rs2149664311
NM_001142800.2(EYS):c.7836_7837del (p.Pro2613fs) rs2533517569
NM_001142800.2(EYS):c.786dup (p.His263fs) rs1766009155
NM_001142800.2(EYS):c.7873T>G (p.Cys2625Gly) rs751128329
NM_001142800.2(EYS):c.788_789del (p.His263fs)
NM_001142800.2(EYS):c.7902dup (p.Asn2635fs) rs2533487139
NM_001142800.2(EYS):c.7997C>A (p.Ala2666Glu) rs1274720242
NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter) rs527236076
NM_001142800.2(EYS):c.8035T>C (p.Cys2679Arg) rs1064797324
NM_001142800.2(EYS):c.803del (p.Gly268fs) rs1766006937
NM_001142800.2(EYS):c.8050A>C (p.Thr2684Pro)
NM_001142800.2(EYS):c.8072-12T>G
NM_001142800.2(EYS):c.8122T>C (p.Ser2708Pro)
NM_001142800.2(EYS):c.8122_8125delinsG (p.Ser2708_Phe2709delinsVal) rs961817248
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs) rs751629543
NM_001142800.2(EYS):c.819dup (p.Thr274fs)
NM_001142800.2(EYS):c.8233+1G>C rs1768621810
NM_001142800.2(EYS):c.942del (p.Ala315fs) rs1766682665
NM_001142800.2:c.(1766+1_1767-1)_(2023+1_2024-1)del
NM_001142800.2:c.(1766+1_1767-1)_(3443+1_3444-1)del
NM_001142800.2:c.(2023+1_2024-1)_(2259+1_2260-1)del
NM_001142800.2:c.(2023+1_2024-1)_(2992+1_2993-1)del
NM_001142800.2:c.(2846+1_2847-1)_(3443+1_3444-1)del
NM_001142800.2:c.(5835+1_5836-1294)_(6078+1_6079-1)dup
NM_001142800.2:c.(6191+1_6192-1)_(6424+1_6425-1)dup
NM_001142800.2:c.(6424+1_6425-1)_(6571+1_6572-1)dup
NM_001142800.2:c.(6725+1_6726-1)_(6834+1_6835-1)dup
NM_001142800.2:c.(7228+1_7229-1)_(7898+1_7899-1)dup

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