ClinVar Miner

List of variants in gene EYS reported by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 559
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HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.4256T>C (p.Leu1419Ser) rs624851 0.77065
NM_001142800.2(EYS):c.1300-3C>T rs1936439 0.67522
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.-500A>G rs1490127 0.20918
NM_001142800.2(EYS):c.3444-5C>T rs9445051 0.19475
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.5977A>G (p.Thr1993Ala) rs115066356 0.02657
NM_001142800.2(EYS):c.2157C>T (p.Cys719=) rs9453148 0.02573
NM_001142800.2(EYS):c.2739G>A (p.Arg913=) rs77020971 0.02117
NM_001142800.2(EYS):c.2733T>C (p.Asn911=) rs75634595 0.01917
NM_001142800.2(EYS):c.7597A>G (p.Lys2533Glu) rs114512007 0.01679
NM_001142800.2(EYS):c.-459C>T rs144371265 0.01261
NM_001142800.2(EYS):c.6452A>G (p.Asn2151Ser) rs141603172 0.01185
NM_001142800.2(EYS):c.777G>A (p.Gln259=) rs78079047 0.01169
NM_001142800.2(EYS):c.5044G>T (p.Asp1682Tyr) rs75831552 0.01062
NM_001142800.2(EYS):c.4093A>G (p.Lys1365Glu) rs16895519 0.00905
NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn) rs61753611 0.00740
NM_001142800.2(EYS):c.3345A>G (p.Glu1115=) rs114282214 0.00622
NM_001142800.2(EYS):c.7796A>G (p.His2599Arg) rs74636274 0.00587
NM_001142800.2(EYS):c.5601T>C (p.Ser1867=) rs182322608 0.00464
NM_001142800.2(EYS):c.281C>A (p.Pro94Gln) rs111947397 0.00404
NM_001142800.2(EYS):c.7006G>A (p.Val2336Ile) rs74848648 0.00397
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256 0.00379
NM_001142800.2(EYS):c.6725+10G>A rs140506043 0.00353
NM_001142800.2(EYS):c.2259+10C>T rs78511049 0.00343
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser) rs199689193 0.00333
NM_001142800.2(EYS):c.2500G>A (p.Val834Ile) rs112464110 0.00293
NM_001142800.2(EYS):c.7697G>A (p.Gly2566Glu) rs115058877 0.00293
NM_001142800.2(EYS):c.2613C>T (p.Asp871=) rs192059823 0.00284
NM_001142800.2(EYS):c.5629C>T (p.Arg1877Trp) rs139822086 0.00273
NM_001142800.2(EYS):c.4264A>T (p.Thr1422Ser) rs200318120 0.00269
NM_001142800.2(EYS):c.788A>G (p.His263Arg) rs139517572 0.00213
NM_001142800.2(EYS):c.-337T>A rs145321084 0.00201
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.6535A>G (p.Ile2179Val) rs148019592 0.00165
NM_001142800.2(EYS):c.1899A>G (p.Gln633=) rs373197894 0.00153
NM_001142800.2(EYS):c.6632C>T (p.Ser2211Leu) rs145623359 0.00148
NM_001142800.2(EYS):c.7107G>A (p.Leu2369=) rs187604073 0.00141
NM_001142800.2(EYS):c.1145A>T (p.Asn382Ile) rs144935927 0.00133
NM_001142800.2(EYS):c.6547A>G (p.Ser2183Gly) rs368458853 0.00133
NM_001142800.2(EYS):c.5474C>A (p.Thr1825Asn) rs182151153 0.00132
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=) rs772339340 0.00124
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly) rs188093810 0.00124
NM_001142800.2(EYS):c.5335G>A (p.Gly1779Ser) rs186499459 0.00121
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.6394C>T (p.Leu2132=) rs149332790 0.00103
NM_001142800.2(EYS):c.748+6A>T rs373742788 0.00096
NM_001142800.2(EYS):c.4891C>T (p.Pro1631Ser) rs200935518 0.00083
NM_001142800.2(EYS):c.2562C>T (p.Asp854=) rs188011013 0.00081
NM_001142800.2(EYS):c.6284C>T (p.Pro2095Leu) rs200374024 0.00081
NM_001142800.2(EYS):c.1660T>A (p.Cys554Ser) rs145102275 0.00077
NM_001142800.2(EYS):c.1872G>A (p.Ser624=) rs148411571 0.00075
NM_001142800.2(EYS):c.3694A>T (p.Ile1232Phe) rs190009374 0.00075
NM_001142800.2(EYS):c.2109C>T (p.Tyr703=) rs377090818 0.00071
NM_001142800.2(EYS):c.5615T>C (p.Ile1872Thr) rs201333192 0.00068
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.6855C>T (p.Phe2285=) rs371505812 0.00064
NM_001142800.2(EYS):c.1459+5C>T rs200387978 0.00061
NM_001142800.2(EYS):c.740C>T (p.Pro247Leu) rs367977860 0.00056
NM_001142800.2(EYS):c.7034G>A (p.Arg2345His) rs201304559 0.00055
NM_001142800.2(EYS):c.716C>T (p.Ala239Val) rs150140204 0.00054
NM_001142800.2(EYS):c.-207A>G rs370140172 0.00051
NM_001142800.2(EYS):c.6828C>T (p.Ala2276=) rs373606872 0.00051
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.5566C>T (p.Arg1856Trp) rs116561042 0.00047
NM_001142800.2(EYS):c.2068T>A (p.Cys690Ser) rs370950723 0.00042
NM_001142800.2(EYS):c.2598C>T (p.Cys866=) rs183814213 0.00040
NM_001142800.2(EYS):c.1638C>T (p.Asp546=) rs373584729 0.00039
NM_001142800.2(EYS):c.2553C>T (p.Asn851=) rs771641817 0.00037
NM_001142800.2(EYS):c.3586T>C (p.Cys1196Arg) rs374409854 0.00036
NM_001142800.2(EYS):c.1748A>C (p.Asp583Ala) rs113591099 0.00034
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_001142800.2(EYS):c.3568+5T>C rs539477235 0.00034
NM_001142800.2(EYS):c.4121G>A (p.Arg1374Gln) rs142187896 0.00034
NM_001142800.2(EYS):c.4363A>G (p.Ile1455Val) rs183144150 0.00034
NM_001142800.2(EYS):c.2822G>T (p.Gly941Val) rs749101387 0.00031
NM_001142800.2(EYS):c.6318T>C (p.Asp2106=) rs193261187 0.00031
NM_001142800.2(EYS):c.7353A>C (p.Ala2451=) rs527812465 0.00031
NM_001142800.2(EYS):c.1082T>C (p.Ile361Thr) rs201059400 0.00030
NM_001142800.2(EYS):c.1512T>A (p.Ala504=) rs142178909 0.00029
NM_001142800.2(EYS):c.2596T>C (p.Cys866Arg) rs369966951 0.00029
NM_001142800.2(EYS):c.5577C>T (p.Pro1859=) rs747911999 0.00029
NM_001142800.2(EYS):c.5988C>T (p.Cys1996=) rs370988507 0.00029
NM_001142800.2(EYS):c.8080A>G (p.Ile2694Val) rs35504565 0.00029
NM_001142800.2(EYS):c.7044C>T (p.Gly2348=) rs369191457 0.00028
NM_001142800.2(EYS):c.2512C>T (p.Pro838Ser) rs112495229 0.00025
NM_001142800.2(EYS):c.7239T>C (p.Ile2413=) rs776743787 0.00025
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg) rs367857088 0.00024
NM_001142800.2(EYS):c.3443+1G>T rs373441420 0.00022
NM_001142800.2(EYS):c.2027C>T (p.Thr676Met) rs199944222 0.00021
NM_001142800.2(EYS):c.4991C>T (p.Thr1664Ile) rs561830314 0.00021
NM_001142800.2(EYS):c.6876T>C (p.Asn2292=) rs774188028 0.00021
NM_001142800.2(EYS):c.7723+9T>C rs766087392 0.00021
NM_001142800.2(EYS):c.2470T>C (p.Cys824Arg) rs761721655 0.00020
NM_001142800.2(EYS):c.8178T>C (p.Pro2726=) rs767955491 0.00020
NM_001142800.2(EYS):c.2302T>A (p.Cys768Ser) rs374204063 0.00019
NM_001142800.2(EYS):c.2309A>C (p.Gln770Pro) rs398123574 0.00019
NM_001142800.2(EYS):c.2539C>T (p.His847Tyr) rs145729428 0.00019
NM_001142800.2(EYS):c.7751C>G (p.Thr2584Ser) rs557892188 0.00019
NM_001142800.2(EYS):c.2439C>T (p.Cys813=) rs367546131 0.00018
NM_001142800.2(EYS):c.2903A>G (p.Asn968Ser) rs535658960 0.00018
NM_001142800.2(EYS):c.1059T>A (p.Asp353Glu) rs138954858 0.00017
NM_001142800.2(EYS):c.719A>G (p.Tyr240Cys) rs150502410 0.00017
NM_001142800.2(EYS):c.3695T>C (p.Ile1232Thr) rs146413074 0.00016
NM_001142800.2(EYS):c.5025T>C (p.Ser1675=) rs995130689 0.00016
NM_001142800.2(EYS):c.6732A>G (p.Thr2244=) rs899618893 0.00016
NM_001142800.2(EYS):c.453T>A (p.Val151=) rs373183802 0.00015
NM_001142800.2(EYS):c.4640A>G (p.Asp1547Gly) rs1010782574 0.00014
NM_001142800.2(EYS):c.6436T>C (p.Phe2146Leu) rs545408886 0.00014
NM_001142800.2(EYS):c.5104T>C (p.Leu1702=) rs564151798 0.00013
NM_001142800.2(EYS):c.1673G>A (p.Trp558Ter) rs201823777 0.00012
NM_001142800.2(EYS):c.2199C>T (p.Asp733=) rs769923713 0.00012
NM_001142800.2(EYS):c.455T>C (p.Met152Thr) rs771768413 0.00012
NM_001142800.2(EYS):c.7441G>A (p.Gly2481Ser) rs774918307 0.00012
NM_001142800.2(EYS):c.1349A>C (p.Asn450Thr) rs138255012 0.00011
NM_001142800.2(EYS):c.1382G>A (p.Cys461Tyr) rs76754818 0.00011
NM_001142800.2(EYS):c.1466A>T (p.Glu489Val) rs140518088 0.00011
NM_001142800.2(EYS):c.3832G>T (p.Ala1278Ser) rs775270768 0.00011
NM_001142800.2(EYS):c.3858C>T (p.Asp1286=) rs374941270 0.00011
NM_001142800.2(EYS):c.4559C>G (p.Ala1520Gly) rs751565795 0.00011
NM_001142800.2(EYS):c.4565A>G (p.Asn1522Ser) rs539577250 0.00011
NM_001142800.2(EYS):c.5053T>G (p.Ser1685Ala) rs759642068 0.00011
NM_001142800.2(EYS):c.3202G>A (p.Asp1068Asn) rs747998145 0.00010
NM_001142800.2(EYS):c.7724-3A>G rs1407901884 0.00010
NM_001142800.2(EYS):c.7744G>A (p.Val2582Ile) rs779269543 0.00010
NM_001142800.2(EYS):c.1747G>T (p.Asp583Tyr) rs776055954 0.00009
NM_001142800.2(EYS):c.5567G>A (p.Arg1856Gln) rs563441026 0.00009
NM_001142800.2(EYS):c.7284A>C (p.Ser2428=) rs775877185 0.00009
NM_001142800.2(EYS):c.8181C>T (p.Leu2727=) rs369121423 0.00009
NM_001142800.2(EYS):c.1107C>T (p.Ser369=) rs755023434 0.00008
NM_001142800.2(EYS):c.1600-10G>A rs111746102 0.00008
NM_001142800.2(EYS):c.2259C>T (p.Leu753=) rs781359405 0.00008
NM_001142800.2(EYS):c.2506C>T (p.Leu836=) rs377216870 0.00008
NM_001142800.2(EYS):c.3773C>T (p.Thr1258Ile) rs372304848 0.00008
NM_001142800.2(EYS):c.4392G>T (p.Gly1464=) rs745673114 0.00008
NM_001142800.2(EYS):c.4864G>A (p.Ala1622Thr) rs533075374 0.00008
NM_001142800.2(EYS):c.5928-2A>G rs181169439 0.00008
NM_001142800.2(EYS):c.6510C>T (p.Asn2170=) rs756110037 0.00008
NM_001142800.2(EYS):c.831T>A (p.Ser277Arg) rs759315564 0.00008
NM_001142800.2(EYS):c.865C>G (p.Pro289Ala) rs772145998 0.00008
NM_001142800.2(EYS):c.1218G>T (p.Glu406Asp) rs201331309 0.00007
NM_001142800.2(EYS):c.380G>T (p.Gly127Val) rs201076128 0.00007
NM_001142800.2(EYS):c.5189G>A (p.Gly1730Glu) rs927928681 0.00007
NM_001142800.2(EYS):c.6009C>T (p.Leu2003=) rs934395477 0.00007
NM_001142800.2(EYS):c.6409C>T (p.Arg2137Cys) rs763862423 0.00007
NM_001142800.2(EYS):c.7171G>A (p.Gly2391Arg) rs751746614 0.00007
NM_001142800.2(EYS):c.7811G>A (p.Arg2604His) rs368798160 0.00007
NM_001142800.2(EYS):c.8048C>A (p.Thr2683Asn) rs996098321 0.00007
NM_001142800.2(EYS):c.8233+9G>A rs779154270 0.00007
NM_001142800.2(EYS):c.-209C>T rs1004023794 0.00006
NM_001142800.2(EYS):c.1461A>T (p.Gly487=) rs376870255 0.00006
NM_001142800.2(EYS):c.1950G>A (p.Ala650=) rs565864295 0.00006
NM_001142800.2(EYS):c.1952C>T (p.Ser651Phe) rs940468386 0.00006
NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter) rs760798455 0.00006
NM_001142800.2(EYS):c.2890G>A (p.Glu964Lys) rs886061681 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.4046G>A (p.Arg1349Gln) rs368698537 0.00006
NM_001142800.2(EYS):c.4100C>T (p.Ser1367Leu) rs773888841 0.00006
NM_001142800.2(EYS):c.4156G>A (p.Asp1386Asn) rs376632836 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.6536T>C (p.Ile2179Thr) rs924836478 0.00006
NM_001142800.2(EYS):c.7117G>A (p.Ala2373Thr) rs372512515 0.00006
NM_001142800.2(EYS):c.2316C>T (p.Ser772=) rs914387501 0.00005
NM_001142800.2(EYS):c.2642-5T>G rs767752603 0.00005
NM_001142800.2(EYS):c.3010A>C (p.Asn1004His) rs781222768 0.00005
NM_001142800.2(EYS):c.3446G>A (p.Cys1149Tyr) rs1315175190 0.00005
NM_001142800.2(EYS):c.390A>G (p.Leu130=) rs758943572 0.00005
NM_001142800.2(EYS):c.4115C>T (p.Pro1372Leu) rs569134881 0.00005
NM_001142800.2(EYS):c.557A>G (p.His186Arg) rs140341077 0.00005
NM_001142800.2(EYS):c.6473T>C (p.Leu2158Pro) rs777735735 0.00005
NM_001142800.2(EYS):c.6571+5G>A rs991580368 0.00005
NM_001142800.2(EYS):c.6961A>C (p.Ile2321Leu) rs149823162 0.00005
NM_001142800.2(EYS):c.7257T>C (p.Ser2419=) rs768229148 0.00005
NM_001142800.2(EYS):c.8107G>T (p.Glu2703Ter) rs184722374 0.00005
NM_001142800.2(EYS):c.833T>C (p.Phe278Ser) rs142777049 0.00005
NM_001142800.2(EYS):c.1111C>A (p.Gln371Lys) rs979156982 0.00004
NM_001142800.2(EYS):c.1124A>C (p.Glu375Ala) rs955372590 0.00004
NM_001142800.2(EYS):c.116A>G (p.Tyr39Cys) rs45541238 0.00004
NM_001142800.2(EYS):c.1293A>T (p.Arg431Ser) rs371607669 0.00004
NM_001142800.2(EYS):c.1462T>G (p.Ser488Ala) rs754245105 0.00004
NM_001142800.2(EYS):c.1470C>T (p.Gly490=) rs778161042 0.00004
NM_001142800.2(EYS):c.1973G>C (p.Ser658Thr) rs1486743340 0.00004
NM_001142800.2(EYS):c.2222C>T (p.Ala741Val) rs1009558644 0.00004
NM_001142800.2(EYS):c.2387A>T (p.Glu796Val) rs909973943 0.00004
NM_001142800.2(EYS):c.2546G>A (p.Arg849His) rs775080539 0.00004
NM_001142800.2(EYS):c.3028T>C (p.Ser1010Pro) rs557931285 0.00004
NM_001142800.2(EYS):c.3185A>T (p.Glu1062Val) rs888286822 0.00004
NM_001142800.2(EYS):c.3243+3A>G rs75242532 0.00004
NM_001142800.2(EYS):c.3878-2A>G rs752930400 0.00004
NM_001142800.2(EYS):c.4108C>T (p.His1370Tyr) rs1381744132 0.00004
NM_001142800.2(EYS):c.4275T>C (p.Thr1425=) rs770430429 0.00004
NM_001142800.2(EYS):c.5411T>C (p.Ile1804Thr) rs368097230 0.00004
NM_001142800.2(EYS):c.5462C>T (p.Thr1821Ile) rs776654329 0.00004
NM_001142800.2(EYS):c.5609A>G (p.Glu1870Gly) rs1002095739 0.00004
NM_001142800.2(EYS):c.5775A>G (p.Gln1925=) rs1465801209 0.00004
NM_001142800.2(EYS):c.5902G>A (p.Gly1968Arg) rs992864714 0.00004
NM_001142800.2(EYS):c.5949C>T (p.Asn1983=) rs541973291 0.00004
NM_001142800.2(EYS):c.5950G>A (p.Ala1984Thr) rs574948016 0.00004
NM_001142800.2(EYS):c.6557G>A (p.Gly2186Glu) rs527236068 0.00004
NM_001142800.2(EYS):c.6763A>G (p.Met2255Val) rs1015509320 0.00004
NM_001142800.2(EYS):c.6874A>C (p.Asn2292His) rs906094515 0.00004
NM_001142800.2(EYS):c.6891G>A (p.Lys2297=) rs1297093544 0.00004
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter) rs398123575 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.8003G>T (p.Cys2668Phe) rs985211023 0.00004
NM_001142800.2(EYS):c.8186C>T (p.Ala2729Val) rs377362833 0.00004
NM_001142800.2(EYS):c.8207C>T (p.Ala2736Val) rs374200609 0.00004
NM_001142800.2(EYS):c.1154G>A (p.Cys385Tyr) rs775400880 0.00003
NM_001142800.2(EYS):c.1314A>G (p.Pro438=) rs375043207 0.00003
NM_001142800.2(EYS):c.1483G>C (p.Gly495Arg) rs771221172 0.00003
NM_001142800.2(EYS):c.1652G>A (p.Arg551Gln) rs773906269 0.00003
NM_001142800.2(EYS):c.2593A>G (p.Thr865Ala) rs1228765084 0.00003
NM_001142800.2(EYS):c.2857A>G (p.Asn953Asp) rs1326644818 0.00003
NM_001142800.2(EYS):c.3039T>C (p.Cys1013=) rs751096016 0.00003
NM_001142800.2(EYS):c.3186A>G (p.Glu1062=) rs769541648 0.00003
NM_001142800.2(EYS):c.3243+1G>A rs1300490966 0.00003
NM_001142800.2(EYS):c.3419G>A (p.Gly1140Glu) rs995707027 0.00003
NM_001142800.2(EYS):c.3793C>T (p.Pro1265Ser) rs1245332279 0.00003
NM_001142800.2(EYS):c.3809T>G (p.Val1270Gly) rs368856942 0.00003
NM_001142800.2(EYS):c.4120C>T (p.Arg1374Ter) rs928803207 0.00003
NM_001142800.2(EYS):c.4308T>G (p.Ile1436Met) rs1402137490 0.00003
NM_001142800.2(EYS):c.5330T>C (p.Leu1777Ser) rs947209456 0.00003
NM_001142800.2(EYS):c.5654G>T (p.Cys1885Phe) rs528824271 0.00003
NM_001142800.2(EYS):c.5660G>A (p.Arg1887His) rs1218030959 0.00003
NM_001142800.2(EYS):c.5776G>C (p.Asp1926His) rs1051421896 0.00003
NM_001142800.2(EYS):c.5777A>G (p.Asp1926Gly) rs727503922 0.00003
NM_001142800.2(EYS):c.5836-4A>G rs569870900 0.00003
NM_001142800.2(EYS):c.5995A>G (p.Ile1999Val) rs893294562 0.00003
NM_001142800.2(EYS):c.6062T>C (p.Leu2021Pro) rs1372426303 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.6726-6G>A rs575406480 0.00003
NM_001142800.2(EYS):c.6726-7C>T rs886782734 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.7676C>T (p.Thr2559Ile) rs913910892 0.00003
NM_001142800.2(EYS):c.7820G>T (p.Gly2607Val) rs1328331376 0.00003
NM_001142800.2(EYS):c.7937C>T (p.Thr2646Ile) rs949510910 0.00003
NM_001142800.2(EYS):c.8071+3G>A rs976010036 0.00003
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter) rs779983752 0.00003
NM_001142800.2(EYS):c.8163A>G (p.Gln2721=) rs370845590 0.00003
NM_001142800.2(EYS):c.863-2A>C rs761229979 0.00003
NM_001142800.2(EYS):c.868T>C (p.Phe290Leu) rs373557623 0.00003
NM_001142800.2(EYS):c.892T>G (p.Cys298Gly) rs375850148 0.00003
NM_001142800.2(EYS):c.91G>A (p.Glu31Lys) rs572189652 0.00003
NM_001142800.2(EYS):c.943G>A (p.Ala315Thr) rs771167869 0.00003
NM_001142800.2(EYS):c.-351C>T rs761045622 0.00002
NM_001142800.2(EYS):c.1100G>C (p.Cys367Ser) rs935618633 0.00002
NM_001142800.2(EYS):c.151T>C (p.Leu51=) rs757997501 0.00002
NM_001142800.2(EYS):c.1766+1G>T rs776204925 0.00002
NM_001142800.2(EYS):c.1999C>T (p.Arg667Cys) rs765763663 0.00002
NM_001142800.2(EYS):c.2248G>C (p.Asp750His) rs976643386 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.2770C>G (p.Leu924Val) rs1040002337 0.00002
NM_001142800.2(EYS):c.2992G>A (p.Gly998Ser) rs1010982936 0.00002
NM_001142800.2(EYS):c.3105T>G (p.Phe1035Leu) rs969468917 0.00002
NM_001142800.2(EYS):c.32dup (p.Met12fs) rs779372264 0.00002
NM_001142800.2(EYS):c.3569-7T>G rs1036723042 0.00002
NM_001142800.2(EYS):c.3926G>A (p.Gly1309Asp) rs1286144518 0.00002
NM_001142800.2(EYS):c.4003G>T (p.Ala1335Ser) rs761342525 0.00002
NM_001142800.2(EYS):c.4146C>A (p.Phe1382Leu) rs748931820 0.00002
NM_001142800.2(EYS):c.4160G>A (p.Arg1387Lys) rs1490023696 0.00002
NM_001142800.2(EYS):c.5101C>T (p.Leu1701=) rs776193099 0.00002
NM_001142800.2(EYS):c.5448T>A (p.Asp1816Glu) rs529055258 0.00002
NM_001142800.2(EYS):c.5779T>C (p.Ser1927Pro) rs921629471 0.00002
NM_001142800.2(EYS):c.5841C>T (p.His1947=) rs772523953 0.00002
NM_001142800.2(EYS):c.600C>T (p.Cys200=) rs145581501 0.00002
NM_001142800.2(EYS):c.6192-1G>T rs570020451 0.00002
NM_001142800.2(EYS):c.6575A>G (p.Asn2192Ser) rs750904267 0.00002
NM_001142800.2(EYS):c.6934C>G (p.Leu2312Val) rs564315274 0.00002
NM_001142800.2(EYS):c.7141G>A (p.Gly2381Arg) rs577000027 0.00002
NM_001142800.2(EYS):c.7459G>A (p.Val2487Met) rs1204307982 0.00002
NM_001142800.2(EYS):c.7699G>A (p.Ala2567Thr) rs1208734040 0.00002
NM_001142800.2(EYS):c.8182G>A (p.Ala2728Thr) rs995862502 0.00002
NM_001142800.2(EYS):c.89A>G (p.Glu30Gly) rs541140905 0.00002
NM_001142800.2(EYS):c.-201C>T rs555933041 0.00001
NM_001142800.2(EYS):c.1005G>T (p.Glu335Asp) rs80095433 0.00001
NM_001142800.2(EYS):c.1057-1G>A rs776564041 0.00001
NM_001142800.2(EYS):c.1108A>G (p.Ile370Val) rs199647597 0.00001
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter) rs1471994744 0.00001
NM_001142800.2(EYS):c.1321A>C (p.Thr441Pro) rs1308471912 0.00001
NM_001142800.2(EYS):c.1381T>A (p.Cys461Ser) rs1471424153 0.00001
NM_001142800.2(EYS):c.1397A>G (p.His466Arg) rs773496819 0.00001
NM_001142800.2(EYS):c.1439T>G (p.Val480Gly) rs1163522025 0.00001
NM_001142800.2(EYS):c.152T>C (p.Leu51Ser) rs1489559245 0.00001
NM_001142800.2(EYS):c.1568C>T (p.Ser523Leu) rs556989074 0.00001
NM_001142800.2(EYS):c.1591A>C (p.Thr531Pro) rs1260633321 0.00001
NM_001142800.2(EYS):c.1655A>T (p.Tyr552Phe) rs369437226 0.00001
NM_001142800.2(EYS):c.1871C>T (p.Ser624Leu) rs548565748 0.00001
NM_001142800.2(EYS):c.2269T>C (p.Cys757Arg) rs1051101987 0.00001
NM_001142800.2(EYS):c.2318A>G (p.Asn773Ser) rs1769270358 0.00001
NM_001142800.2(EYS):c.2378A>G (p.Tyr793Cys) rs1248002900 0.00001
NM_001142800.2(EYS):c.2380C>T (p.Arg794Ter) rs371032798 0.00001
NM_001142800.2(EYS):c.2423A>C (p.Glu808Ala) rs1329809440 0.00001
NM_001142800.2(EYS):c.2495A>G (p.Gln832Arg) rs1459583624 0.00001
NM_001142800.2(EYS):c.2622G>T (p.Gln874His) rs377592930 0.00001
NM_001142800.2(EYS):c.2641+2T>C rs960578029 0.00001
NM_001142800.2(EYS):c.2644T>C (p.Phe882Leu) rs759172997 0.00001
NM_001142800.2(EYS):c.2662G>A (p.Glu888Lys) rs1345091519 0.00001
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs) rs878853349 0.00001
NM_001142800.2(EYS):c.2889T>A (p.Cys963Ter) rs989589885 0.00001
NM_001142800.2(EYS):c.2898T>G (p.Asp966Glu) rs1248778370 0.00001
NM_001142800.2(EYS):c.2936A>C (p.Glu979Ala) rs372948826 0.00001
NM_001142800.2(EYS):c.2944G>T (p.Val982Phe) rs1347071957 0.00001
NM_001142800.2(EYS):c.3003T>A (p.Cys1001Ter) rs1389794536 0.00001
NM_001142800.2(EYS):c.3060C>T (p.Ile1020=) rs538242132 0.00001
NM_001142800.2(EYS):c.3069C>G (p.Ile1023Met) rs913116063 0.00001
NM_001142800.2(EYS):c.3083G>C (p.Cys1028Ser) rs1407301072 0.00001
NM_001142800.2(EYS):c.3141T>G (p.Leu1047=) rs955368246 0.00001
NM_001142800.2(EYS):c.3165-1G>A rs1349089552 0.00001
NM_001142800.2(EYS):c.3293C>A (p.Ala1098Glu) rs561156283 0.00001
NM_001142800.2(EYS):c.3335C>T (p.Ala1112Val) rs1274231318 0.00001
NM_001142800.2(EYS):c.3420G>A (p.Gly1140=) rs1325335839 0.00001
NM_001142800.2(EYS):c.3542A>G (p.Asn1181Ser) rs1767601964 0.00001
NM_001142800.2(EYS):c.360G>A (p.Thr120=) rs745859722 0.00001
NM_001142800.2(EYS):c.3688T>A (p.Cys1230Ser) rs1258171232 0.00001
NM_001142800.2(EYS):c.3731C>T (p.Thr1244Ile) rs531860176 0.00001
NM_001142800.2(EYS):c.3877+6T>C rs937888425 0.00001
NM_001142800.2(EYS):c.3918A>T (p.Pro1306=) rs997369455 0.00001
NM_001142800.2(EYS):c.3922A>G (p.Thr1308Ala) rs1223693086 0.00001
NM_001142800.2(EYS):c.3941G>A (p.Arg1314Lys) rs1330067403 0.00001
NM_001142800.2(EYS):c.4030G>A (p.Asp1344Asn) rs980448170 0.00001
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter) rs930421180 0.00001
NM_001142800.2(EYS):c.4190C>A (p.Ser1397Tyr) rs892657143 0.00001
NM_001142800.2(EYS):c.41T>C (p.Phe14Ser) rs767517924 0.00001
NM_001142800.2(EYS):c.4216A>G (p.Thr1406Ala) rs866402714 0.00001
NM_001142800.2(EYS):c.4339G>C (p.Gly1447Arg) rs1459655912 0.00001
NM_001142800.2(EYS):c.4347G>C (p.Leu1449=) rs1582930118 0.00001
NM_001142800.2(EYS):c.4432A>G (p.Ile1478Val) rs968087660 0.00001
NM_001142800.2(EYS):c.4503A>G (p.Ile1501Met) rs765829827 0.00001
NM_001142800.2(EYS):c.4718A>C (p.Gln1573Pro) rs1248199893 0.00001
NM_001142800.2(EYS):c.47G>T (p.Ser16Ile) rs755010017 0.00001
NM_001142800.2(EYS):c.4805C>T (p.Ala1602Val) rs1353073807 0.00001
NM_001142800.2(EYS):c.4841C>G (p.Ala1614Gly) rs1312195779 0.00001
NM_001142800.2(EYS):c.4843A>G (p.Thr1615Ala) rs566502407 0.00001
NM_001142800.2(EYS):c.4849A>T (p.Ile1617Leu) rs551487472 0.00001
NM_001142800.2(EYS):c.490C>T (p.Arg164Ter) rs794727631 0.00001
NM_001142800.2(EYS):c.4964T>C (p.Leu1655Ser) rs765407986 0.00001
NM_001142800.2(EYS):c.5100A>T (p.Lys1700Asn) rs1267480820 0.00001
NM_001142800.2(EYS):c.5114G>A (p.Arg1705Lys) rs1260159911 0.00001
NM_001142800.2(EYS):c.5131A>G (p.Met1711Val) rs913147481 0.00001
NM_001142800.2(EYS):c.5186A>C (p.Lys1729Thr) rs1378944082 0.00001
NM_001142800.2(EYS):c.5262G>A (p.Pro1754=) rs779784002 0.00001
NM_001142800.2(EYS):c.5264A>T (p.Asp1755Val) rs1185867411 0.00001
NM_001142800.2(EYS):c.5279C>G (p.Thr1760Arg) rs1423659317 0.00001
NM_001142800.2(EYS):c.5329T>C (p.Leu1777=) rs1042931370 0.00001
NM_001142800.2(EYS):c.5395A>G (p.Thr1799Ala) rs144694451 0.00001
NM_001142800.2(EYS):c.5618T>G (p.Leu1873Arg) rs750613634 0.00001
NM_001142800.2(EYS):c.5644+5G>A rs794727412 0.00001
NM_001142800.2(EYS):c.5681T>C (p.Leu1894Pro) rs780566602 0.00001
NM_001142800.2(EYS):c.5733T>G (p.Phe1911Leu) rs1218274693 0.00001
NM_001142800.2(EYS):c.57A>G (p.Ile19Met) rs751094898 0.00001
NM_001142800.2(EYS):c.5836-3C>T rs748977292 0.00001
NM_001142800.2(EYS):c.5935T>C (p.Leu1979=) rs962496239 0.00001
NM_001142800.2(EYS):c.5953G>A (p.Glu1985Lys) rs1196390028 0.00001
NM_001142800.2(EYS):c.5959A>C (p.Thr1987Pro) rs1278246029 0.00001
NM_001142800.2(EYS):c.5975A>G (p.Asn1992Ser) rs762475623 0.00001
NM_001142800.2(EYS):c.6025A>G (p.Lys2009Glu) rs559078881 0.00001
NM_001142800.2(EYS):c.6043A>G (p.Ile2015Val) rs772606637 0.00001
NM_001142800.2(EYS):c.6047G>A (p.Gly2016Asp) rs886061672 0.00001
NM_001142800.2(EYS):c.6104C>A (p.Thr2035Asn) rs1769478067 0.00001
NM_001142800.2(EYS):c.6316G>T (p.Asp2106Tyr) rs369266984 0.00001
NM_001142800.2(EYS):c.6344A>G (p.His2115Arg) rs1046447869 0.00001
NM_001142800.2(EYS):c.6446C>A (p.Ser2149Tyr) rs537922564 0.00001
NM_001142800.2(EYS):c.6485A>C (p.Lys2162Thr) rs1039415909 0.00001
NM_001142800.2(EYS):c.6485A>T (p.Lys2162Met) rs1039415909 0.00001
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter) rs797045089 0.00001
NM_001142800.2(EYS):c.6626G>A (p.Arg2209Lys) rs761797334 0.00001
NM_001142800.2(EYS):c.6696C>A (p.Asn2232Lys) rs946318214 0.00001
NM_001142800.2(EYS):c.6724C>T (p.Arg2242Cys) rs990350691 0.00001
NM_001142800.2(EYS):c.6782A>G (p.Asp2261Gly) rs893275648 0.00001
NM_001142800.2(EYS):c.6824A>G (p.His2275Arg) rs765650947 0.00001
NM_001142800.2(EYS):c.6850A>G (p.Met2284Val) rs1767268298 0.00001
NM_001142800.2(EYS):c.6888T>C (p.His2296=) rs1357255596 0.00001
NM_001142800.2(EYS):c.6911G>A (p.Gly2304Glu) rs773046364 0.00001
NM_001142800.2(EYS):c.6929T>C (p.Leu2310Pro) rs1253820214 0.00001
NM_001142800.2(EYS):c.6955T>C (p.Phe2319Leu) rs1212043673 0.00001
NM_001142800.2(EYS):c.6967G>A (p.Asp2323Asn) rs747666847 0.00001
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter) rs1060499783 0.00001
NM_001142800.2(EYS):c.7048T>C (p.Cys2350Arg) rs935531910 0.00001
NM_001142800.2(EYS):c.7122T>C (p.Ser2374=) rs890076073 0.00001
NM_001142800.2(EYS):c.7170C>T (p.Ser2390=) rs201364943 0.00001
NM_001142800.2(EYS):c.7222A>G (p.Thr2408Ala) rs1418033120 0.00001
NM_001142800.2(EYS):c.7274G>A (p.Gly2425Glu) rs1201593554 0.00001
NM_001142800.2(EYS):c.7300C>T (p.Arg2434Trp) rs1234060098 0.00001
NM_001142800.2(EYS):c.7356C>A (p.Asn2452Lys) rs566843175 0.00001
NM_001142800.2(EYS):c.7471T>G (p.Tyr2491Asp) rs1306301546 0.00001
NM_001142800.2(EYS):c.7482G>C (p.Gly2494=) rs1276511581 0.00001
NM_001142800.2(EYS):c.7591A>G (p.Lys2531Glu) rs1037212478 0.00001
NM_001142800.2(EYS):c.7723+6G>A rs773926989 0.00001
NM_001142800.2(EYS):c.7753G>A (p.Glu2585Lys) rs1221830320 0.00001
NM_001142800.2(EYS):c.7803T>C (p.Asn2601=) rs1342639553 0.00001
NM_001142800.2(EYS):c.7851G>T (p.Met2617Ile) rs1012336027 0.00001
NM_001142800.2(EYS):c.7861A>G (p.Asn2621Asp) rs1193588140 0.00001
NM_001142800.2(EYS):c.7873T>C (p.Cys2625Arg) rs751128329 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.8088T>A (p.Asp2696Glu) rs780632755 0.00001
NM_001142800.2(EYS):c.8206G>C (p.Ala2736Pro) rs1250317776 0.00001
NM_001142800.2(EYS):c.832T>C (p.Phe278Leu) rs773704807 0.00001
NM_001142800.2(EYS):c.853C>A (p.Gln285Lys) rs988163418 0.00001
NM_001142800.2(EYS):c.867A>G (p.Pro289=) rs746039939 0.00001
NM_001142800.2(EYS):c.-350G>A rs886061687
NM_001142800.2(EYS):c.-350G>T rs886061687
NM_001142800.2(EYS):c.-497C>T rs184368442
NM_001142800.2(EYS):c.1018C>T (p.Pro340Ser) rs1766677062
NM_001142800.2(EYS):c.1185-6T>G rs565046666
NM_001142800.2(EYS):c.1211dup (p.Asn404fs) rs764163418
NM_001142800.2(EYS):c.1274G>A (p.Cys425Tyr) rs1064796021
NM_001142800.2(EYS):c.1299+5_1299+8del rs1562140604
NM_001142800.2(EYS):c.1418G>T (p.Gly473Val) rs540611114
NM_001142800.2(EYS):c.1432G>A (p.Glu478Lys) rs1403117224
NM_001142800.2(EYS):c.1549C>T (p.Pro517Ser) rs763331925
NM_001142800.2(EYS):c.1599+7T>C rs755565799
NM_001142800.2(EYS):c.159C>G (p.Phe53Leu) rs1766211185
NM_001142800.2(EYS):c.1613G>T (p.Gly538Val) rs530200433
NM_001142800.2(EYS):c.1625T>C (p.Leu542Ser) rs1769937884
NM_001142800.2(EYS):c.1675G>A (p.Ala559Thr) rs1769934918
NM_001142800.2(EYS):c.1698T>C (p.Asn566=) rs1156347961
NM_001142800.2(EYS):c.1750G>A (p.Glu584Lys) rs527236072
NM_001142800.2(EYS):c.1766G>A (p.Arg589Lys) rs1769929028
NM_001142800.2(EYS):c.1767-6T>C rs1768658442
NM_001142800.2(EYS):c.1786T>C (p.Tyr596His) rs1409350172
NM_001142800.2(EYS):c.1790T>C (p.Ile597Thr) rs1481056736
NM_001142800.2(EYS):c.1902A>G (p.Arg634=) rs1768652347
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.2(EYS):c.2000G>C (p.Arg667Pro) rs549456693
NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter) rs794727120
NM_001142800.2(EYS):c.2465G>A (p.Gly822Asp) rs1768037499
NM_001142800.2(EYS):c.2614G>C (p.Ala872Pro) rs957725168
NM_001142800.2(EYS):c.2641G>A (p.Glu881Lys) rs1768029780
NM_001142800.2(EYS):c.2739-1G>A rs943468139
NM_001142800.2(EYS):c.2739G>T (p.Arg913Ser) rs77020971
NM_001142800.2(EYS):c.2828G>A (p.Cys943Tyr) rs986462667
NM_001142800.2(EYS):c.2950A>G (p.Arg984Gly) rs1030671986
NM_001142800.2(EYS):c.3010A>G (p.Asn1004Asp) rs781222768
NM_001142800.2(EYS):c.3024C>A (p.Cys1008Ter) rs1764939836
NM_001142800.2(EYS):c.3072T>A (p.Asn1024Lys) rs2150022753
NM_001142800.2(EYS):c.3126C>T (p.Asn1042=) rs368790430
NM_001142800.2(EYS):c.3319C>A (p.Arg1107Ser) rs766897712
NM_001142800.2(EYS):c.3319C>T (p.Arg1107Cys) rs766897712
NM_001142800.2(EYS):c.334G>A (p.Val112Ile) rs112609906
NM_001142800.2(EYS):c.334G>C (p.Val112Leu) rs112609906
NM_001142800.2(EYS):c.3353T>C (p.Ile1118Thr) rs1412311460
NM_001142800.2(EYS):c.33G>C (p.Leu11=) rs777361054
NM_001142800.2(EYS):c.3404G>A (p.Gly1135Glu) rs1764655776
NM_001142800.2(EYS):c.3417T>C (p.Asp1139=) rs1238692406
NM_001142800.2(EYS):c.3444A>T (p.Arg1148Ser) rs1377722024
NM_001142800.2(EYS):c.3562C>T (p.Gln1188Ter) rs2149856749
NM_001142800.2(EYS):c.3568+1G>A rs1767600988
NM_001142800.2(EYS):c.359C>G (p.Thr120Arg) rs12193967
NM_001142800.2(EYS):c.359C>T (p.Thr120Met) rs12193967
NM_001142800.2(EYS):c.362A>G (p.Glu121Gly) rs1766196909
NM_001142800.2(EYS):c.3634T>C (p.Cys1212Arg) rs536260976
NM_001142800.2(EYS):c.386G>C (p.Arg129Thr) rs1224551754
NM_001142800.2(EYS):c.3878G>A (p.Gly1293Asp) rs763158109
NM_001142800.2(EYS):c.3905A>G (p.His1302Arg) rs886061676
NM_001142800.2(EYS):c.4106C>T (p.Ser1369Leu) rs769949135
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.4393G>T (p.Ala1465Ser) rs747921119
NM_001142800.2(EYS):c.4409A>T (p.Glu1470Val) rs555692190
NM_001142800.2(EYS):c.4530A>T (p.Ser1510=) rs1582929801
NM_001142800.2(EYS):c.4610_4611del (p.Arg1537fs) rs886042613
NM_001142800.2(EYS):c.4721T>C (p.Val1574Ala) rs1766395456
NM_001142800.2(EYS):c.4723T>G (p.Leu1575Val) rs765741480
NM_001142800.2(EYS):c.4955C>A (p.Ser1652Ter) rs909730457
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs) rs527236065
NM_001142800.2(EYS):c.5035A>T (p.Met1679Leu) rs1271352313
NM_001142800.2(EYS):c.5087A>C (p.Glu1696Ala) rs1766380689
NM_001142800.2(EYS):c.5116C>G (p.Gln1706Glu) rs1221943541
NM_001142800.2(EYS):c.5225G>A (p.Ser1742Asn) rs1766375527
NM_001142800.2(EYS):c.525_527del (p.Glu176del) rs780433094
NM_001142800.2(EYS):c.5333C>T (p.Thr1778Ile) rs566440637
NM_001142800.2(EYS):c.5401G>A (p.Ala1801Thr) rs751705317
NM_001142800.2(EYS):c.5479C>G (p.Leu1827Val) rs746509889
NM_001142800.2(EYS):c.5600C>A (p.Ser1867Tyr) rs542339299
NM_001142800.2(EYS):c.5600C>T (p.Ser1867Phe) rs542339299
NM_001142800.2(EYS):c.5630G>A (p.Arg1877Gln) rs780006257
NM_001142800.2(EYS):c.5782A>G (p.Asn1928Asp) rs1432152673
NM_001142800.2(EYS):c.5802dup (p.Ile1935fs) rs1455826633
NM_001142800.2(EYS):c.5834del (p.Lys1945fs) rs774455587
NM_001142800.2(EYS):c.5839C>T (p.His1947Tyr) rs1774743807
NM_001142800.2(EYS):c.6079-24TC[10] rs35395170
NM_001142800.2(EYS):c.6079-24TC[12] rs35395170
NM_001142800.2(EYS):c.6079-24TC[8] rs35395170
NM_001142800.2(EYS):c.6079-24TC[9] rs35395170
NM_001142800.2(EYS):c.6082C>G (p.Pro2028Ala) rs1769479599
NM_001142800.2(EYS):c.6214C>G (p.Pro2072Ala) rs1766405253
NM_001142800.2(EYS):c.6296C>T (p.Ala2099Val) rs2150337999
NM_001142800.2(EYS):c.6302C>T (p.Ser2101Phe) rs779392354
NM_001142800.2(EYS):c.6444A>G (p.Pro2148=) rs556671009
NM_001142800.2(EYS):c.6575A>T (p.Asn2192Ile) rs750904267
NM_001142800.2(EYS):c.6602T>C (p.Leu2201Pro) rs2149855751
NM_001142800.2(EYS):c.6725G>A (p.Arg2242His) rs1771368413
NM_001142800.2(EYS):c.6772A>G (p.Met2258Val) rs1767966521
NM_001142800.2(EYS):c.6794del (p.Pro2265fs) rs758109813
NM_001142800.2(EYS):c.683G>T (p.Cys228Phe) rs999213534
NM_001142800.2(EYS):c.6899G>T (p.Gly2300Val) rs531588707
NM_001142800.2(EYS):c.7055+1G>A rs1582079626
NM_001142800.2(EYS):c.7062T>A (p.Asn2354Lys) rs1367535493
NM_001142800.2(EYS):c.7073_7081dup (p.Phe2358_Glu2360dup) rs1372494388
NM_001142800.2(EYS):c.7117G>C (p.Ala2373Pro) rs372512515
NM_001142800.2(EYS):c.7228G>T (p.Ala2410Ser) rs915505702
NM_001142800.2(EYS):c.7251G>T (p.Arg2417Ser) rs572836860
NM_001142800.2(EYS):c.7260C>T (p.Gly2420=) rs1770908773
NM_001142800.2(EYS):c.7321C>T (p.His2441Tyr) rs1770906877
NM_001142800.2(EYS):c.7369C>T (p.Leu2457=) rs551500915
NM_001142800.2(EYS):c.7423G>A (p.Asp2475Asn) rs140594243
NM_001142800.2(EYS):c.749-1G>A rs368159852
NM_001142800.2(EYS):c.749-1G>C rs368159852
NM_001142800.2(EYS):c.7579-11dup rs1044534941
NM_001142800.2(EYS):c.7649T>C (p.Phe2550Ser) rs1770415462
NM_001142800.2(EYS):c.7684C>G (p.Leu2562Val) rs1770414327
NM_001142800.2(EYS):c.7748G>A (p.Arg2583His) rs564020009
NM_001142800.2(EYS):c.8104A>C (p.Asn2702His) rs1768627778
NM_001142800.2(EYS):c.8128G>T (p.Ala2710Ser) rs750011709
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs) rs751629543
NM_001142800.2(EYS):c.8150del (p.Lys2717fs) rs1251637752
NM_001142800.2(EYS):c.8151G>T (p.Lys2717Asn) rs983603381
NM_001142800.2(EYS):c.8155_8156del (p.His2719fs) rs764229134
NM_001142800.2(EYS):c.8203T>C (p.Tyr2735His) rs1768623493
NM_001142800.2(EYS):c.8210C>T (p.Ala2737Val) rs1481779086
NM_001142800.2(EYS):c.8230T>C (p.Ser2744Pro) rs1768622052
NM_001142800.2(EYS):c.863-22_863-21insTTC rs1554192996
NM_001142800.2(EYS):c.863-30_863-28dup rs34154043
NM_001142800.2(EYS):c.863-30_863-29dup rs34154043
NM_001142800.2(EYS):c.863-4dup rs199517256
NM_001142800.2(EYS):c.919G>A (p.Gly307Arg) rs1766684069
NM_001142800.2(EYS):c.953A>C (p.Tyr318Ser) rs772989862

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