ClinVar Miner

List of variants in gene EYS studied for amino acid metabolism disease

Included ClinVar conditions (409):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 976
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HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.1599+96A>C rs1502963 0.99413
NM_001142800.2(EYS):c.1600-38G>A rs1502965 0.98305
NM_001142800.2(EYS):c.1600-79A>G rs1502964 0.98305
NM_001142800.2(EYS):c.4256T>C (p.Leu1419Ser) rs624851 0.77065
NM_001142800.2(EYS):c.5928-35T>C rs587278 0.72606
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.2641+198A>C rs10046141 0.67344
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.1767-136T>G rs9342465 0.49843
NM_001142800.2(EYS):c.2260-76G>A rs9453115 0.39093
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln) rs4710457 0.35152
NM_001142800.2(EYS):c.6834+61T>G rs66502009 0.29500
NM_001142800.2(EYS):c.6078+68A>G rs36133910 0.27370
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.2024-14C>T rs45628235 0.20204
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.2847-157A>G rs58449017 0.14846
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.3568+99C>A rs62415853 0.10485
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.862+87T>C rs4710522 0.09325
NM_001142800.2(EYS):c.7666A>T (p.Ser2556Cys) rs66462731 0.08861
NM_001142800.2(EYS):c.7723+64T>A rs72886371 0.08145
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.6726-24613G>T rs151229098 0.00698
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.7578+18C>T rs147210136 0.00376
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.3329C>G (p.Thr1110Ser) rs143327210 0.00223
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.-414G>A rs181146743 0.00187
NM_001142800.2(EYS):c.7737T>C (p.Thr2579=) rs191846522 0.00175
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp) rs201580493 0.00166
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.1184+14T>C rs182780299 0.00132
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.2039T>C (p.Ile680Thr) rs376807770 0.00108
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.3489T>A (p.Asn1163Lys) rs150951106 0.00076
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.7056-15T>A rs139056492 0.00067
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.3444-15del rs546966286 0.00062
NM_001142800.2(EYS):c.1459+5C>T rs200387978 0.00061
NM_001142800.2(EYS):c.-521C>T rs769167992 0.00057
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.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.1852G>A (p.Gly618Ser) rs142450703 0.00043
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.3586T>C (p.Cys1196Arg) rs374409854 0.00036
NM_001142800.2(EYS):c.-200G>A rs368932132 0.00035
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.7044C>T (p.Gly2348=) rs369191457 0.00028
NM_001142800.2(EYS):c.7724-12C>T rs144282503 0.00026
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.2971C>T (p.Leu991Phe) rs201819948 0.00023
NM_001142800.2(EYS):c.3443+1G>T rs373441420 0.00022
NM_001142800.2(EYS):c.1056+11A>G rs201004766 0.00021
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.7751C>G (p.Thr2584Ser) rs557892188 0.00019
NM_001142800.2(EYS):c.2439C>T (p.Cys813=) rs367546131 0.00018
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.453T>A (p.Val151=) rs373183802 0.00015
NM_001142800.2(EYS):c.6436T>C (p.Phe2146Leu) rs545408886 0.00014
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.3832G>T (p.Ala1278Ser) rs775270768 0.00011
NM_001142800.2(EYS):c.3858C>T (p.Asp1286=) rs374941270 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.6188G>T (p.Cys2063Phe) rs138123230 0.00011
NM_001142800.2(EYS):c.-68C>T rs530118054 0.00010
NM_001142800.2(EYS):c.2260-7C>T rs532797776 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.1766+2598del rs765911767 0.00009
NM_001142800.2(EYS):c.7507G>A (p.Glu2503Lys) rs768964978 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.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.865C>G (p.Pro289Ala) rs772145998 0.00008
NM_001142800.2(EYS):c.1218G>T (p.Glu406Asp) rs201331309 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.6416G>A (p.Cys2139Tyr) rs749909863 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.881C>G (p.Ser294Ter) rs752683070 0.00007
NM_001142800.2(EYS):c.-272T>C rs747914953 0.00006
NM_001142800.2(EYS):c.-332-10C>T rs868706829 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.2738+13T>C rs886061682 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.35T>C (p.Met12Thr) rs755947942 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.6536T>C (p.Ile2179Thr) rs924836478 0.00006
NM_001142800.2(EYS):c.7117G>A (p.Ala2373Thr) rs372512515 0.00006
NM_001142800.2(EYS):c.1253A>G (p.Asn418Ser) rs200542517 0.00005
NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly) rs778030177 0.00005
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.522C>T (p.Cys174=) rs373343831 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.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.2545C>T (p.Arg849Cys) rs369347845 0.00004
NM_001142800.2(EYS):c.2546G>A (p.Arg849His) rs775080539 0.00004
NM_001142800.2(EYS):c.3185A>T (p.Glu1062Val) rs888286822 0.00004
NM_001142800.2(EYS):c.3878-2A>G rs752930400 0.00004
NM_001142800.2(EYS):c.4275T>C (p.Thr1425=) rs770430429 0.00004
NM_001142800.2(EYS):c.4451G>A (p.Trp1484Ter) rs1239854361 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.6323G>A (p.Cys2108Tyr) rs770111708 0.00004
NM_001142800.2(EYS):c.6557G>A (p.Gly2186Glu) rs527236068 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.7411+11C>T rs886061668 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.967G>T (p.Gly323Ter) rs746499646 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.2886C>G (p.Phe962Leu) rs766153322 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.3266del (p.Met1089fs) rs1329066633 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.5776G>C (p.Asp1926His) rs1051421896 0.00003
NM_001142800.2(EYS):c.5995A>G (p.Ile1999Val) rs893294562 0.00003
NM_001142800.2(EYS):c.6010G>A (p.Gly2004Arg) rs535282640 0.00003
NM_001142800.2(EYS):c.6062T>C (p.Leu2021Pro) rs1372426303 0.00003
NM_001142800.2(EYS):c.632G>T (p.Cys211Phe) rs772707303 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.6822C>A (p.Ser2274=) rs1055095941 0.00003
NM_001142800.2(EYS):c.6912G>A (p.Gly2304=) rs745961740 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.7810C>T (p.Arg2604Cys) rs1015857165 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.863-2A>C rs761229979 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.-448+5G>A rs1175129177 0.00002
NM_001142800.2(EYS):c.1100G>C (p.Cys367Ser) rs935618633 0.00002
NM_001142800.2(EYS):c.1490T>C (p.Ile497Thr) rs1417899816 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.2259+1G>A rs752736741 0.00002
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu) rs74419361 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.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.5484A>C (p.Lys1828Asn) rs996239133 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.5903G>A (p.Gly1968Glu) rs754069174 0.00002
NM_001142800.2(EYS):c.600C>T (p.Cys200=) rs145581501 0.00002
NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val) rs868349465 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.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.7898+12G>A rs557020239 0.00002
NM_001142800.2(EYS):c.78_79dup (p.Gln27fs) rs1352380841 0.00002
NM_001142800.2(EYS):c.8054G>A (p.Gly2685Glu) rs919157306 0.00002
NM_001142800.2(EYS):c.8182G>A (p.Ala2728Thr) rs995862502 0.00002
NM_001142800.2(EYS):c.-277C>G rs1379087184 0.00001
NM_001142800.2(EYS):c.-495T>C rs886061688 0.00001
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.1056+3A>C rs747923761 0.00001
NM_001142800.2(EYS):c.1057-1G>A rs776564041 0.00001
NM_001142800.2(EYS):c.1247G>A (p.Ser416Asn) rs761318837 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.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.174G>A (p.Trp58Ter) rs1177052380 0.00001
NM_001142800.2(EYS):c.1811A>G (p.Asn604Ser) rs1274107268 0.00001
NM_001142800.2(EYS):c.1871C>T (p.Ser624Leu) rs548565748 0.00001
NM_001142800.2(EYS):c.2023+5G>A rs1287889008 0.00001
NM_001142800.2(EYS):c.2260-2dup rs1554220492 0.00001
NM_001142800.2(EYS):c.2269T>C (p.Cys757Arg) rs1051101987 0.00001
NM_001142800.2(EYS):c.2287T>C (p.Trp763Arg) rs886061684 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.2641+8C>A rs886061683 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.2811C>A (p.Cys937Ter) rs1466666397 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.2892A>C (p.Glu964Asp) rs762212630 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.2964C>G (p.Tyr988Ter) rs1245121527 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.3164+1G>A rs1029564423 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.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.3970del (p.Leu1324fs) rs1431710414 0.00001
NM_001142800.2(EYS):c.3972C>T (p.Leu1324=) rs202130794 0.00001
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter) rs930421180 0.00001
NM_001142800.2(EYS):c.4052T>G (p.Leu1351Arg) rs759027016 0.00001
NM_001142800.2(EYS):c.4099T>C (p.Ser1367Pro) rs1285964857 0.00001
NM_001142800.2(EYS):c.4190C>A (p.Ser1397Tyr) rs892657143 0.00001
NM_001142800.2(EYS):c.4199C>A (p.Ser1400Ter) rs1245304444 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.4219C>T (p.Gln1407Ter) rs1421392730 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.4440A>G (p.Arg1480=) rs886061675 0.00001
NM_001142800.2(EYS):c.4503A>G (p.Ile1501Met) rs765829827 0.00001
NM_001142800.2(EYS):c.4651G>T (p.Glu1551Ter) rs1305702728 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.487C>T (p.Leu163Phe) rs144074328 0.00001
NM_001142800.2(EYS):c.490C>T (p.Arg164Ter) rs794727631 0.00001
NM_001142800.2(EYS):c.4955C>G (p.Ser1652Ter) rs909730457 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.5264A>T (p.Asp1755Val) rs1185867411 0.00001
NM_001142800.2(EYS):c.5279C>G (p.Thr1760Arg) rs1423659317 0.00001
NM_001142800.2(EYS):c.5395A>G (p.Thr1799Ala) rs144694451 0.00001
NM_001142800.2(EYS):c.5511G>A (p.Trp1837Ter) rs745574120 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.5644+7T>G rs539437238 0.00001
NM_001142800.2(EYS):c.5681T>C (p.Leu1894Pro) rs780566602 0.00001
NM_001142800.2(EYS):c.5755C>T (p.Leu1919Phe) rs1275377315 0.00001
NM_001142800.2(EYS):c.5836-3C>T rs748977292 0.00001
NM_001142800.2(EYS):c.583A>C (p.Ser195Arg) rs753945993 0.00001
NM_001142800.2(EYS):c.5857G>T (p.Glu1953Ter) rs137853189 0.00001
NM_001142800.2(EYS):c.592T>A (p.Tyr198Asn) rs886061686 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.6047G>A (p.Gly2016Asp) rs886061672 0.00001
NM_001142800.2(EYS):c.6079-3_6079-2del rs1491200209 0.00001
NM_001142800.2(EYS):c.6104C>A (p.Thr2035Asn) rs1769478067 0.00001
NM_001142800.2(EYS):c.6191+1G>A rs1048032321 0.00001
NM_001142800.2(EYS):c.6316G>T (p.Asp2106Tyr) rs369266984 0.00001
NM_001142800.2(EYS):c.634C>T (p.Gln212Ter) rs371915861 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.6563T>C (p.Ile2188Thr) rs1562190751 0.00001
NM_001142800.2(EYS):c.6571+1G>A rs1193854376 0.00001
NM_001142800.2(EYS):c.6623G>A (p.Gly2208Glu) rs1197105310 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.6725+9T>C rs886061671 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.684C>A (p.Cys228Ter) rs1312069480 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.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.7065A>C (p.Glu2355Asp) rs749617474 0.00001
NM_001142800.2(EYS):c.7133A>G (p.Asn2378Ser) rs1477495174 0.00001
NM_001142800.2(EYS):c.7222A>G (p.Thr2408Ala) rs1418033120 0.00001
NM_001142800.2(EYS):c.7261A>C (p.Thr2421Pro) rs886061669 0.00001
NM_001142800.2(EYS):c.7274G>A (p.Gly2425Glu) rs1201593554 0.00001
NM_001142800.2(EYS):c.7277dup (p.Tyr2426Ter) rs1303821903 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.7591A>G (p.Lys2531Glu) rs1037212478 0.00001
NM_001142800.2(EYS):c.7654del (p.Tyr2551_Val2552insTer) rs1064796020 0.00001
NM_001142800.2(EYS):c.7723+6G>A rs773926989 0.00001
NM_001142800.2(EYS):c.7822C>T (p.Gln2608Ter) rs1770111064 0.00001
NM_001142800.2(EYS):c.7842C>A (p.Cys2614Ter) rs374494800 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.7868G>A (p.Gly2623Glu) rs559824825 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.7943del (p.Thr2648fs) rs1477705832 0.00001
NM_001142800.2(EYS):c.7970del (p.Asp2657fs) rs1477098845 0.00001
NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter) rs527236076 0.00001
NM_001142800.2(EYS):c.8035T>G (p.Cys2679Gly) rs1064797324 0.00001
NM_001142800.2(EYS):c.8088T>A (p.Asp2696Glu) rs780632755 0.00001
NM_001142800.2(EYS):c.812G>A (p.Ser271Asn) rs1390616909 0.00001
NM_001142800.2(EYS):c.8143C>T (p.Arg2715Ter) rs1299355731 0.00001
NM_001142800.2(EYS):c.8168del (p.Gln2723fs) rs1168101857 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.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
GRCh38/hg38 6q12(chr6:64902016-64946012)x1
GRCh38/hg38 6q12(chr6:64997485-65057825)x0
NC_000006.11:g.(64574252_64694275)_(64791896_64940484)dup
NC_000006.11:g.(64709077_64776230)_(64791896_64940484)del
NC_000006.11:g.(64776385_64791748)_(64791896_64940484)del
NC_000006.11:g.(65098734_65146066)_(65149246_65300115)del
NC_000006.11:g.(65336139_65523270)_(65707597_65767506)del
NC_000006.11:g.(65596736_65612005)_(65655808_65707474)del
NC_000006.11:g.(65612394_65622376)_(65767621_66005755)del
NC_000006.11:g.(65707597_65767506)_(65767621_66005755)del
NC_000006.11:g.(66094394_66112370)_(66115261_66200486)del
NC_000006.11:g.(66115261_66200486)_(66205887_66349670)del
NC_000006.11:g.64666416_66194230del
NC_000006.11:g.65133931_65156120dup
NC_000006.11:g.65376653_65743428del
NC_000006.12:g.64349976_64426764del
NM_001142800.1(EYS):c.(2641+1_2642-1)_(2846+1_2847-1)del
NM_001142800.1(EYS):c.(6078+1_6079-1)_(6191+1_6192-1)dup
NM_001142800.1(EYS):c.(6424+1_6425-1)_(6571+1_6572-1)del
NM_001142800.1(EYS):c.6079_6191del
NM_001142800.1:c.(2137+1_2138-1)_(2259+1_2260-1)dup
NM_001142800.2(EYS):c.-333G>T rs1038300996
NM_001142800.2(EYS):c.-350G>A rs886061687
NM_001142800.2(EYS):c.-407C>G rs137924872
NM_001142800.2(EYS):c.-40_3dup (p.Thr2fs)
NM_001142800.2(EYS):c.-497C>T rs184368442
NM_001142800.2(EYS):c.-82T>C rs1766226162
NM_001142800.2(EYS):c.1018C>T (p.Pro340Ser) rs1766677062
NM_001142800.2(EYS):c.103C>T (p.Gln35Ter) rs749410700
NM_001142800.2(EYS):c.1052C>A (p.Ser351Ter)
NM_001142800.2(EYS):c.110C>A (p.Ser37Ter)
NM_001142800.2(EYS):c.1122T>A (p.Cys374Ter)
NM_001142800.2(EYS):c.1123G>T (p.Glu375Ter)
NM_001142800.2(EYS):c.1127C>A (p.Ser376Ter)
NM_001142800.2(EYS):c.113C>A (p.Ser38Ter) rs1288767318
NM_001142800.2(EYS):c.1161del (p.Lys387fs) rs1562154478
NM_001142800.2(EYS):c.117T>A (p.Tyr39Ter)
NM_001142800.2(EYS):c.1184+1G>T
NM_001142800.2(EYS):c.1185-1G>A
NM_001142800.2(EYS):c.1185-3C>A
NM_001142800.2(EYS):c.1185-3C>T rs1562140876
NM_001142800.2(EYS):c.1185-6T>G rs565046666
NM_001142800.2(EYS):c.1193C>G (p.Ser398Ter) rs866804139
NM_001142800.2(EYS):c.1211del (p.Asn404fs) rs764163418
NM_001142800.2(EYS):c.1211dup (p.Asn404fs) rs764163418
NM_001142800.2(EYS):c.1232A>G (p.His411Arg) rs886061685
NM_001142800.2(EYS):c.1234del (p.Cys412fs) rs1765726534
NM_001142800.2(EYS):c.1260del (p.Asn421fs)
NM_001142800.2(EYS):c.1272del (p.Trp424fs)
NM_001142800.2(EYS):c.1274G>A (p.Cys425Tyr) rs1064796021
NM_001142800.2(EYS):c.1299+2T>A rs2150351826
NM_001142800.2(EYS):c.1299+5_1299+8del rs1562140604
NM_001142800.2(EYS):c.1300-3_1300-2inv
NM_001142800.2(EYS):c.1328dup (p.Asn443fs) rs1582176424
NM_001142800.2(EYS):c.1335T>A (p.Cys445Ter)
NM_001142800.2(EYS):c.1338G>A (p.Trp446Ter)
NM_001142800.2(EYS):c.1345A>T (p.Lys449Ter) rs527236077
NM_001142800.2(EYS):c.1356C>G (p.Tyr452Ter)
NM_001142800.2(EYS):c.1418G>T (p.Gly473Val) rs540611114
NM_001142800.2(EYS):c.1436_1437del (p.Tyr479fs)
NM_001142800.2(EYS):c.1443G>A (p.Trp481Ter)
NM_001142800.2(EYS):c.1459+103C>T rs9453265
NM_001142800.2(EYS):c.1460-2A>C
NM_001142800.2(EYS):c.1479C>A (p.Cys493Ter) rs774464019
NM_001142800.2(EYS):c.1480C>T (p.Gln494Ter) rs1207818522
NM_001142800.2(EYS):c.1482dup (p.Gly495fs)
NM_001142800.2(EYS):c.1497C>T (p.Ala499=) rs1300237940
NM_001142800.2(EYS):c.1499dup (p.Tyr500Ter) rs1562109990
NM_001142800.2(EYS):c.1505_1506insGA (p.Phe502fs)
NM_001142800.2(EYS):c.1521C>A (p.Cys507Ter) rs1416709406
NM_001142800.2(EYS):c.1527del (p.Asp510fs) rs2150319911
NM_001142800.2(EYS):c.1549C>T (p.Pro517Ser) rs763331925
NM_001142800.2(EYS):c.1558AAT[1] (p.Asn521del) rs747069281
NM_001142800.2(EYS):c.1599+1G>T rs2150319815
NM_001142800.2(EYS):c.1600-1G>T
NM_001142800.2(EYS):c.1603del (p.Cys535fs) rs2150313808
NM_001142800.2(EYS):c.160_162delinsAA (p.Tyr54fs)
NM_001142800.2(EYS):c.1613G>T (p.Gly538Val) rs530200433
NM_001142800.2(EYS):c.1637_1640del (p.Asp546fs) rs2150313758
NM_001142800.2(EYS):c.1641_1644del (p.Ser547fs) rs752504462
NM_001142800.2(EYS):c.1650T>G (p.Tyr550Ter) rs1769936722
NM_001142800.2(EYS):c.1675G>A (p.Ala559Thr) rs1769934918
NM_001142800.2(EYS):c.1711C>T (p.Gln571Ter)
NM_001142800.2(EYS):c.1750G>A (p.Glu584Lys) rs527236072
NM_001142800.2(EYS):c.1750G>T (p.Glu584Ter) rs527236072
NM_001142800.2(EYS):c.1766+1G>A
NM_001142800.2(EYS):c.1767-3C>G rs1768658375
NM_001142800.2(EYS):c.1770_1782del (p.Arg589_Cys590insTer)
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.179del (p.Leu60fs) rs786205652
NM_001142800.2(EYS):c.1809_1812delinsTAA (p.Asn604fs)
NM_001142800.2(EYS):c.1867del (p.Leu623fs)
NM_001142800.2(EYS):c.1902A>G (p.Arg634=) rs1768652347
NM_001142800.2(EYS):c.1961dup (p.Asn654fs) rs749103801
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.2000G>T (p.Arg667Leu) rs549456693
NM_001142800.2(EYS):c.2011_2012del (p.Pro671fs)
NM_001142800.2(EYS):c.2021_2023+1dup rs2150286198
NM_001142800.2(EYS):c.2023+14_2023+15dup rs35045551
NM_001142800.2(EYS):c.2023+1G>A rs980430860
NM_001142800.2(EYS):c.2023+5G>T rs1287889008
NM_001142800.2(EYS):c.2041G>T (p.Asp681Tyr)
NM_001142800.2(EYS):c.2055T>A (p.Cys685Ter) rs372354156
NM_001142800.2(EYS):c.2055_2056del (p.Ala686fs) rs1583442540
NM_001142800.2(EYS):c.2068del (p.Cys690fs)
NM_001142800.2(EYS):c.2077G>A (p.Gly693Arg) rs1258209665
NM_001142800.2(EYS):c.2138-2A>G
NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter) rs794727120
NM_001142800.2(EYS):c.2275_2276del (p.Cys759fs) rs758506938
NM_001142800.2(EYS):c.2280_2283del (p.Ser761fs)
NM_001142800.2(EYS):c.2287T>G (p.Trp763Gly) rs886061684
NM_001142800.2(EYS):c.2308C>T (p.Gln770Ter) rs992863438
NM_001142800.2(EYS):c.2326A>T (p.Lys776Ter)
NM_001142800.2(EYS):c.232del (p.Cys78fs) rs1468020897
NM_001142800.2(EYS):c.2380del (p.Arg794fs)
NM_001142800.2(EYS):c.2381+1G>A rs1769267226
NM_001142800.2(EYS):c.2381+1G>C
NM_001142800.2(EYS):c.2382-1G>A
NM_001142800.2(EYS):c.2382-26C>G rs9445437
NM_001142800.2(EYS):c.2410C>T (p.Gln804Ter)
NM_001142800.2(EYS):c.2420del (p.Ser807fs) rs1768038999
NM_001142800.2(EYS):c.2461G>T (p.Gly821Ter) rs2150076887
NM_001142800.2(EYS):c.2465G>A (p.Gly822Asp) rs1768037499
NM_001142800.2(EYS):c.2483C>G (p.Thr828Ser) rs1768037062
NM_001142800.2(EYS):c.2486del (p.Ile829fs) rs2150076869
NM_001142800.2(EYS):c.2499T>G (p.Phe833Leu) rs1554217626
NM_001142800.2(EYS):c.251T>G (p.Leu84Ter)
NM_001142800.2(EYS):c.2522dup (p.Tyr841Ter)
NM_001142800.2(EYS):c.2525C>A (p.Thr842Asn) rs1768034633
NM_001142800.2(EYS):c.2527G>A (p.Gly843Arg) rs2150076826
NM_001142800.2(EYS):c.253G>T (p.Gly85Ter)
NM_001142800.2(EYS):c.2579_2580delinsAA (p.Cys860Ter)
NM_001142800.2(EYS):c.2614G>C (p.Ala872Pro) rs957725168
NM_001142800.2(EYS):c.2623dup (p.His875fs)
NM_001142800.2(EYS):c.2638G>T (p.Glu880Ter) rs2150076741
NM_001142800.2(EYS):c.2641+13A>G rs1768029318
NM_001142800.2(EYS):c.2641+1G>A rs1768029728
NM_001142800.2(EYS):c.2652dup (p.Lys885Ter) rs1767699695
NM_001142800.2(EYS):c.2704dup (p.Tyr902fs)
NM_001142800.2(EYS):c.2710_2726del (p.Asp904fs) rs878853253
NM_001142800.2(EYS):c.2715_2716del (p.Cys905_Glu906delinsTer) rs2150071769
NM_001142800.2(EYS):c.2716G>T (p.Glu906Ter)
NM_001142800.2(EYS):c.2739-1G>A rs943468139
NM_001142800.2(EYS):c.2739-1G>T rs943468139
NM_001142800.2(EYS):c.2739del
NM_001142800.2(EYS):c.2748C>A (p.Cys916Ter) rs1391928253
NM_001142800.2(EYS):c.2791_2794delinsTTTTGCAAG (p.Glu931fs)
NM_001142800.2(EYS):c.2820_2824del (p.Gly941fs) rs1583277585
NM_001142800.2(EYS):c.2828G>A (p.Cys943Tyr) rs986462667
NM_001142800.2(EYS):c.2837T>C (p.Leu946Pro) rs1767685290
NM_001142800.2(EYS):c.2842_2845del (p.Asn948fs)
NM_001142800.2(EYS):c.2847-1G>T
NM_001142800.2(EYS):c.2847-24C>T rs7743515
NM_001142800.2(EYS):c.2847-2A>G
NM_001142800.2(EYS):c.2854del (p.Cys952fs) rs779877426
NM_001142800.2(EYS):c.2854dup (p.Cys952fs) rs779877426
NM_001142800.2(EYS):c.289C>T (p.Gln97Ter) rs1766202141
NM_001142800.2(EYS):c.2949del (p.Val982_Tyr983insTer)
NM_001142800.2(EYS):c.2950A>G (p.Arg984Gly) rs1030671986
NM_001142800.2(EYS):c.2975G>T (p.Cys992Phe) rs566917467
NM_001142800.2(EYS):c.2976T>A (p.Cys992Ter) rs1554214453
NM_001142800.2(EYS):c.2981del (p.Pro994fs) rs1583260302
NM_001142800.2(EYS):c.2992+1G>A
NM_001142800.2(EYS):c.2992+9A>G rs886061680
NM_001142800.2(EYS):c.2993-1G>A
NM_001142800.2(EYS):c.2993-2A>G rs2150022860
NM_001142800.2(EYS):c.3003_3004del (p.Cys1001_Glu1002delinsTer) rs1764940309
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.3089G>C (p.Cys1030Ser) rs1764936871
NM_001142800.2(EYS):c.3106G>T (p.Gly1036Ter)
NM_001142800.2(EYS):c.3112_3113insTCTTTGGAACAC (p.Thr1037_His1038insLeuPheGlyThr) rs1554207076
NM_001142800.2(EYS):c.3126C>T (p.Asn1042=) rs368790430
NM_001142800.2(EYS):c.3143C>G (p.Ser1048Ter)
NM_001142800.2(EYS):c.3146del (p.Asn1049fs)
NM_001142800.2(EYS):c.3153del (p.Leu1052fs) rs1764934644
NM_001142800.2(EYS):c.315_316delinsA (p.Asn105fs)
NM_001142800.2(EYS):c.3164+8dup rs201012275
NM_001142800.2(EYS):c.3178_3179del (p.Leu1059_Ile1060insTer)
NM_001142800.2(EYS):c.3201_3205del (p.Asp1068fs)
NM_001142800.2(EYS):c.3244-1G>C rs2150016293
NM_001142800.2(EYS):c.3244-1G>T
NM_001142800.2(EYS):c.3265A>G (p.Met1089Val) rs1764663420
NM_001142800.2(EYS):c.3298G>T (p.Gly1100Ter)
NM_001142800.2(EYS):c.3309C>A (p.Cys1103Ter)
NM_001142800.2(EYS):c.3349dup (p.Ser1117fs)
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.3352A>G (p.Ile1118Val) rs886061679
NM_001142800.2(EYS):c.3353T>C (p.Ile1118Thr) rs1412311460
NM_001142800.2(EYS):c.3417T>C (p.Asp1139=) rs1238692406
NM_001142800.2(EYS):c.342T>A (p.Cys114Ter) rs1418930514
NM_001142800.2(EYS):c.3443+160T>G rs9345532
NM_001142800.2(EYS):c.3443+1G>A rs373441420
NM_001142800.2(EYS):c.3444A>T (p.Arg1148Ser) rs1377722024
NM_001142800.2(EYS):c.3473G>A (p.Cys1158Tyr)
NM_001142800.2(EYS):c.3478dup (p.Ile1160fs)
NM_001142800.2(EYS):c.3490G>T (p.Glu1164Ter) rs2149856835
NM_001142800.2(EYS):c.34_35del (p.Met12fs) rs2127271977
NM_001142800.2(EYS):c.350del (p.Asn117fs) rs1582376609
NM_001142800.2(EYS):c.3510T>A (p.Cys1170Ter)
NM_001142800.2(EYS):c.3561C>A (p.Cys1187Ter) rs1767601438
NM_001142800.2(EYS):c.3562C>T (p.Gln1188Ter) rs2149856749
NM_001142800.2(EYS):c.3567del (p.Gly1190fs) rs1767601116
NM_001142800.2(EYS):c.3568+1G>A rs1767600988
NM_001142800.2(EYS):c.3569-1G>A
NM_001142800.2(EYS):c.3573G>A (p.Trp1191Ter) rs1239806410
NM_001142800.2(EYS):c.359C>T (p.Thr120Met) rs12193967
NM_001142800.2(EYS):c.3606C>A (p.Cys1202Ter) rs1297699863
NM_001142800.2(EYS):c.3618_3619del (p.Val1208fs)
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.3684+2T>A rs1562094391
NM_001142800.2(EYS):c.3685-1G>T
NM_001142800.2(EYS):c.3690C>T (p.Cys1230=) rs886061678
NM_001142800.2(EYS):c.3694A>G (p.Ile1232Val) rs190009374
NM_001142800.2(EYS):c.3699del (p.Leu1234fs) rs1318739667
NM_001142800.2(EYS):c.3715G>T (p.Glu1239Ter) rs1582932583
NM_001142800.2(EYS):c.3737T>G (p.Leu1246Ter)
NM_001142800.2(EYS):c.3739dup (p.Thr1247fs)
NM_001142800.2(EYS):c.3768_3769dup (p.Ser1257fs) rs2149833352
NM_001142800.2(EYS):c.3775C>T (p.Gln1259Ter) rs1291867456
NM_001142800.2(EYS):c.3789dup (p.Pro1264fs)
NM_001142800.2(EYS):c.3855G>T (p.Met1285Ile) rs886061677
NM_001142800.2(EYS):c.3862dup (p.Tyr1288fs) rs2149833264
NM_001142800.2(EYS):c.386G>C (p.Arg129Thr) rs1224551754
NM_001142800.2(EYS):c.3874C>T (p.Gln1292Ter)
NM_001142800.2(EYS):c.3878G>A (p.Gly1293Asp) rs763158109
NM_001142800.2(EYS):c.3886C>T (p.Gln1296Ter)
NM_001142800.2(EYS):c.3905A>G (p.His1302Arg) rs886061676
NM_001142800.2(EYS):c.3938T>A (p.Leu1313Ter) rs2149832585
NM_001142800.2(EYS):c.3949A>G (p.Thr1317Ala) rs1766425037
NM_001142800.2(EYS):c.3951_3952del (p.Pro1318fs) rs1270740001
NM_001142800.2(EYS):c.4011_4012del (p.His1337fs) rs2149832523
NM_001142800.2(EYS):c.4026del (p.Ala1343fs)
NM_001142800.2(EYS):c.403_423delinsCTTTT (p.Thr135fs) rs1582376398
NM_001142800.2(EYS):c.4073del (p.Pro1358fs) rs2149832474
NM_001142800.2(EYS):c.4100C>A (p.Ser1367Ter)
NM_001142800.2(EYS):c.4103dup (p.Ser1369fs)
NM_001142800.2(EYS):c.4152dup (p.Pro1385fs) rs1185686653
NM_001142800.2(EYS):c.4154_4155del (p.Pro1385fs) rs1766416713
NM_001142800.2(EYS):c.4245_4246del (p.Gln1415fs)
NM_001142800.2(EYS):c.4261G>C (p.Ala1421Pro) rs545171658
NM_001142800.2(EYS):c.4290C>G (p.Ser1430Arg) rs2149832263
NM_001142800.2(EYS):c.4306dup (p.Ile1436fs)
NM_001142800.2(EYS):c.4321C>T (p.Gln1441Ter) rs1766410692
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.4387del (p.Arg1463fs) rs527236075
NM_001142800.2(EYS):c.4393G>T (p.Ala1465Ser) rs747921119
NM_001142800.2(EYS):c.4393dup (p.Ala1465fs) rs750840208
NM_001142800.2(EYS):c.4395_4402dup (p.Asp1468fs) rs527236073
NM_001142800.2(EYS):c.4409A>T (p.Glu1470Val) rs555692190
NM_001142800.2(EYS):c.4436C>A (p.Ser1479Ter)
NM_001142800.2(EYS):c.4455_4458del (p.Arg1485fs)
NM_001142800.2(EYS):c.449del (p.Thr150fs)
NM_001142800.2(EYS):c.4510C>T (p.Gln1504Ter)
NM_001142800.2(EYS):c.4523T>A (p.Leu1508Ter) rs2149832043
NM_001142800.2(EYS):c.4523T>G (p.Leu1508Ter)
NM_001142800.2(EYS):c.4530A>T (p.Ser1510=) rs1582929801
NM_001142800.2(EYS):c.4532C>G (p.Ser1511Ter) rs2149832027
NM_001142800.2(EYS):c.4557del (p.Ala1520fs) rs768092887
NM_001142800.2(EYS):c.4606C>A (p.Gln1536Lys) rs557152369
NM_001142800.2(EYS):c.4607A>G (p.Gln1536Arg) rs528387472
NM_001142800.2(EYS):c.4610_4611del (p.Arg1537fs) rs886042613
NM_001142800.2(EYS):c.4613_4616del (p.Leu1538fs) rs1582929649
NM_001142800.2(EYS):c.4655T>G (p.Leu1552Ter) rs1054515897
NM_001142800.2(EYS):c.4663A>G (p.Thr1555Ala) rs886061674
NM_001142800.2(EYS):c.4665_4666del (p.Ala1557fs)
NM_001142800.2(EYS):c.4712C>A (p.Ser1571Ter)
NM_001142800.2(EYS):c.4717C>T (p.Gln1573Ter)
NM_001142800.2(EYS):c.4721T>C (p.Val1574Ala) rs1766395456
NM_001142800.2(EYS):c.4791T>A (p.Tyr1597Ter)
NM_001142800.2(EYS):c.479del (p.Pro160fs)
NM_001142800.2(EYS):c.4829_4832del (p.Ser1610fs) rs886044304
NM_001142800.2(EYS):c.4901dup (p.Ser1635fs)
NM_001142800.2(EYS):c.492_499del (p.Leu165fs) rs1270977202
NM_001142800.2(EYS):c.4939G>T (p.Glu1647Ter)
NM_001142800.2(EYS):c.4943C>A (p.Ser1648Tyr)
NM_001142800.2(EYS):c.4955C>A (p.Ser1652Ter) rs909730457
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs) rs527236065
NM_001142800.2(EYS):c.4976T>G (p.Leu1659Ter)
NM_001142800.2(EYS):c.4977_4978del (p.Cys1660fs) rs2149831647
NM_001142800.2(EYS):c.4997del (p.Leu1666fs)
NM_001142800.2(EYS):c.5014C>T (p.Gln1672Ter) rs527236074
NM_001142800.2(EYS):c.5071G>T (p.Glu1691Ter)
NM_001142800.2(EYS):c.5087A>C (p.Glu1696Ala) rs1766380689
NM_001142800.2(EYS):c.5098A>T (p.Lys1700Ter)
NM_001142800.2(EYS):c.514C>T (p.Gln172Ter) rs2127271155
NM_001142800.2(EYS):c.5167_5168del (p.Leu1723fs) rs1562079314
NM_001142800.2(EYS):c.5182del (p.Ser1728fs) rs1562079278
NM_001142800.2(EYS):c.5202_5203del (p.Phe1735fs) rs527236071
NM_001142800.2(EYS):c.5227del (p.Ser1743fs)
NM_001142800.2(EYS):c.5238del (p.Phe1746fs)
NM_001142800.2(EYS):c.5243T>A (p.Leu1748Ter) rs1582928662
NM_001142800.2(EYS):c.5254del (p.Ile1752fs)
NM_001142800.2(EYS):c.525_527del (p.Glu176del) rs780433094
NM_001142800.2(EYS):c.5283T>A (p.Tyr1761Ter) rs1158231145
NM_001142800.2(EYS):c.5290dup (p.Ile1764fs) rs761760327
NM_001142800.2(EYS):c.5317_5342delinsTA (p.Asn1773_Val1781delinsTer) rs1554183440
NM_001142800.2(EYS):c.5333C>T (p.Thr1778Ile) rs566440637
NM_001142800.2(EYS):c.536G>A (p.Ser179Asn) rs1766186895
NM_001142800.2(EYS):c.5401G>A (p.Ala1801Thr) rs751705317
NM_001142800.2(EYS):c.5408C>G (p.Ser1803Ter) rs1554183432
NM_001142800.2(EYS):c.5409A>G (p.Ser1803=) rs886061673
NM_001142800.2(EYS):c.5413C>T (p.Gln1805Ter) rs1766367970
NM_001142800.2(EYS):c.5436A>C (p.Val1812=) rs1376017497
NM_001142800.2(EYS):c.5450G>A (p.Trp1817Ter) rs983691310
NM_001142800.2(EYS):c.5479C>G (p.Leu1827Val) rs746509889
NM_001142800.2(EYS):c.5487dup (p.Glu1830fs)
NM_001142800.2(EYS):c.5530_5534dup (p.Val1846fs) rs1405016852
NM_001142800.2(EYS):c.5536_5543del (p.Val1846fs) rs2149830976
NM_001142800.2(EYS):c.5550_5551del (p.Glu1850fs) rs2149830970
NM_001142800.2(EYS):c.5600C>T (p.Ser1867Phe) rs542339299
NM_001142800.2(EYS):c.5626C>T (p.Gln1876Ter) rs2149830904
NM_001142800.2(EYS):c.5644+1G>A
NM_001142800.2(EYS):c.5645-1G>A
NM_001142800.2(EYS):c.5666del (p.Tyr1889fs)
NM_001142800.2(EYS):c.5677_5681del (p.Tyr1893fs)
NM_001142800.2(EYS):c.5728G>A (p.Glu1910Lys) rs867380219
NM_001142800.2(EYS):c.5734C>T (p.Gln1912Ter)
NM_001142800.2(EYS):c.5782A>G (p.Asn1928Asp) rs1432152673
NM_001142800.2(EYS):c.5786del (p.Asn1928_Leu1929insTer) rs2150466350
NM_001142800.2(EYS):c.5802dup (p.Ile1935fs) rs1455826633
NM_001142800.2(EYS):c.5805dup (p.Gln1936fs) rs1774852599
NM_001142800.2(EYS):c.5806C>T (p.Gln1936Ter)
NM_001142800.2(EYS):c.5814del (p.Phe1938fs)
NM_001142800.2(EYS):c.5834del (p.Lys1945fs) rs774455587
NM_001142800.2(EYS):c.5835+155T>C rs3904083
NM_001142800.2(EYS):c.5835+1G>A
NM_001142800.2(EYS):c.5839C>T (p.His1947Tyr) rs1774743807
NM_001142800.2(EYS):c.5841del (p.Tyr1949fs)
NM_001142800.2(EYS):c.5866T>G (p.Phe1956Val) rs1269786039
NM_001142800.2(EYS):c.5884A>G (p.Thr1962Ala) rs2150463938
NM_001142800.2(EYS):c.5928-1G>A
NM_001142800.2(EYS):c.5928-3_5928-1del rs1554152094
NM_001142800.2(EYS):c.5928del
NM_001142800.2(EYS):c.5958del (p.Thr1987fs)
NM_001142800.2(EYS):c.5983del (p.Ile1995fs)
NM_001142800.2(EYS):c.5988C>A (p.Cys1996Ter)
NM_001142800.2(EYS):c.602A>G (p.His201Arg) rs1011260787
NM_001142800.2(EYS):c.6036_6042del (p.Val2013fs)
NM_001142800.2(EYS):c.6078+1G>A
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.607C>T (p.Gln203Ter) rs1766182274
NM_001142800.2(EYS):c.6082C>G (p.Pro2028Ala) rs1769479599
NM_001142800.2(EYS):c.6102_6104delinsAT (p.Phe2034fs)
NM_001142800.2(EYS):c.6112A>G (p.Ile2038Val) rs553772732
NM_001142800.2(EYS):c.6115del (p.Glu2039fs)
NM_001142800.2(EYS):c.6116A>T (p.Glu2039Val) rs2150375987
NM_001142800.2(EYS):c.6131_6134del (p.Asn2044fs) rs2150375968
NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter) rs878853350
NM_001142800.2(EYS):c.6138G>A (p.Trp2046Ter)
NM_001142800.2(EYS):c.613C>T (p.Pro205Ser) rs1554202833
NM_001142800.2(EYS):c.6174T>G (p.Tyr2058Ter) rs1769471082
NM_001142800.2(EYS):c.6191+1del
NM_001142800.2(EYS):c.6191+2T>C rs1769469813
NM_001142800.2(EYS):c.6192-1G>A
NM_001142800.2(EYS):c.6196del (p.Gln2066fs)
NM_001142800.2(EYS):c.6214C>G (p.Pro2072Ala) rs1766405253
NM_001142800.2(EYS):c.6229_6238del (p.Val2077fs) rs1554220416
NM_001142800.2(EYS):c.6269G>A (p.Trp2090Ter) rs1562263385
NM_001142800.2(EYS):c.6270G>A (p.Trp2090Ter)
NM_001142800.2(EYS):c.6286del (p.Ser2096fs) rs2150338012
NM_001142800.2(EYS):c.6296C>T (p.Ala2099Val) rs2150337999
NM_001142800.2(EYS):c.6302_6303del (p.Ser2101fs)
NM_001142800.2(EYS):c.6313C>T (p.Gln2105Ter) rs1188834464
NM_001142800.2(EYS):c.637_643del (p.Glu213fs) rs1285201633
NM_001142800.2(EYS):c.6415T>C (p.Cys2139Arg) rs1378663182
NM_001142800.2(EYS):c.6461C>G (p.Ser2154Cys) rs1771988273
NM_001142800.2(EYS):c.6485dup (p.Phe2163fs)
NM_001142800.2(EYS):c.6502G>T (p.Glu2168Ter) rs1554204963
NM_001142800.2(EYS):c.6544_6547del (p.Asn2182fs) rs1488052513
NM_001142800.2(EYS):c.6545del (p.Asn2182fs) rs1346842287
NM_001142800.2(EYS):c.6575A>T (p.Asn2192Ile) rs750904267
NM_001142800.2(EYS):c.6591_6594del (p.Lys2198fs) rs1582221424
NM_001142800.2(EYS):c.6595C>T (p.Gln2199Ter)
NM_001142800.2(EYS):c.6602T>C (p.Leu2201Pro) rs2149855751
NM_001142800.2(EYS):c.6725+1G>T
NM_001142800.2(EYS):c.6725G>A (p.Arg2242His) rs1771368413
NM_001142800.2(EYS):c.6726-12_6735del
NM_001142800.2(EYS):c.6772A>G (p.Met2258Val) rs1767966521
NM_001142800.2(EYS):c.6794del (p.Pro2265fs) rs758109813
NM_001142800.2(EYS):c.6799C>T (p.Gln2267Ter)
NM_001142800.2(EYS):c.6799_6800del (p.Gln2267fs)
NM_001142800.2(EYS):c.67dup (p.Thr23fs) rs1766217655
NM_001142800.2(EYS):c.6812_6813del (p.Thr2271fs) rs2149802267
NM_001142800.2(EYS):c.6820dup (p.Ser2274fs)
NM_001142800.2(EYS):c.6825dup (p.Ala2276fs)
NM_001142800.2(EYS):c.6834+2T>C
NM_001142800.2(EYS):c.6835-2A>T
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.6904G>C (p.Val2302Leu)
NM_001142800.2(EYS):c.6934C>T (p.Leu2312Phe) rs564315274
NM_001142800.2(EYS):c.6937C>T (p.Gln2313Ter) rs1554194404
NM_001142800.2(EYS):c.694del (p.Arg232fs)
NM_001142800.2(EYS):c.7017T>A (p.Cys2339Ter)
NM_001142800.2(EYS):c.7028_7033delinsAT (p.Leu2343fs)
NM_001142800.2(EYS):c.7047C>A (p.Thr2349=) rs1767253468
NM_001142800.2(EYS):c.7048del (p.Cys2350fs) rs527236069
NM_001142800.2(EYS):c.7055+1G>A rs1582079626
NM_001142800.2(EYS):c.7056-2A>C rs1772621012
NM_001142800.2(EYS):c.7073_7081dup (p.Phe2358_Glu2360dup) rs1372494388
NM_001142800.2(EYS):c.7115T>A (p.Phe2372Tyr)
NM_001142800.2(EYS):c.7117G>C (p.Ala2373Pro) rs372512515
NM_001142800.2(EYS):c.7126G>T (p.Glu2376Ter)
NM_001142800.2(EYS):c.7152del (p.Thr2385fs)
NM_001142800.2(EYS):c.7178del (p.Asp2393fs)
NM_001142800.2(EYS):c.7187G>C (p.Cys2396Ser)
NM_001142800.2(EYS):c.7196del (p.Pro2399fs) rs2149709684
NM_001142800.2(EYS):c.7202G>C (p.Gly2401Ala) rs886061670
NM_001142800.2(EYS):c.7205G>A (p.Arg2402Lys) rs766515998
NM_001142800.2(EYS):c.7228G>A (p.Ala2410Thr)
NM_001142800.2(EYS):c.7228G>T (p.Ala2410Ser) rs915505702
NM_001142800.2(EYS):c.7228_7228+1delinsTA rs1772614934
NM_001142800.2(EYS):c.7229-1G>A rs1554171033
NM_001142800.2(EYS):c.7251G>T (p.Arg2417Ser) rs572836860
NM_001142800.2(EYS):c.7296T>A (p.Tyr2432Ter)
NM_001142800.2(EYS):c.7327G>T (p.Glu2443Ter)
NM_001142800.2(EYS):c.7328A>C (p.Glu2443Ala)
NM_001142800.2(EYS):c.732T>A (p.Cys244Ter) rs1562220891
NM_001142800.2(EYS):c.7331T>A (p.Phe2444Tyr)
NM_001142800.2(EYS):c.7332_7333del (p.Phe2444fs)
NM_001142800.2(EYS):c.7366G>A (p.Ala2456Thr) rs2149678928
NM_001142800.2(EYS):c.7369C>T (p.Leu2457=) rs551500915
NM_001142800.2(EYS):c.7372C>T (p.Gln2458Ter)
NM_001142800.2(EYS):c.7376dup (p.Asn2459fs)
NM_001142800.2(EYS):c.7392dup (p.Thr2465fs) rs1770904723
NM_001142800.2(EYS):c.7412-1G>C rs1167742176
NM_001142800.2(EYS):c.7423G>A (p.Asp2475Asn) rs140594243
NM_001142800.2(EYS):c.7461_7462del (p.Val2488fs)
NM_001142800.2(EYS):c.748+1G>A rs1766169568
NM_001142800.2(EYS):c.7480G>A (p.Gly2494Arg) rs1483377268
NM_001142800.2(EYS):c.749-1G>A rs368159852
NM_001142800.2(EYS):c.749-1G>C rs368159852
NM_001142800.2(EYS):c.749-2A>G rs1766011028
NM_001142800.2(EYS):c.7495dup (p.Ser2499fs)
NM_001142800.2(EYS):c.749del rs762794153
NM_001142800.2(EYS):c.7540_7541del (p.Val2514fs) rs2149670871
NM_001142800.2(EYS):c.7572G>A (p.Trp2524Ter) rs902462590
NM_001142800.2(EYS):c.7583del (p.Asp2528fs)
NM_001142800.2(EYS):c.7620A>C (p.Arg2540Ser) rs886061667
NM_001142800.2(EYS):c.7684C>G (p.Leu2562Val) rs1770414327
NM_001142800.2(EYS):c.7694del (p.Asn2565fs) rs527236078
NM_001142800.2(EYS):c.7723+1G>A rs1770412895
NM_001142800.2(EYS):c.7736_7742del (p.Thr2579fs) rs1431427428
NM_001142800.2(EYS):c.7737T>G (p.Thr2579=) rs191846522
NM_001142800.2(EYS):c.7748G>C (p.Arg2583Pro) rs564020009
NM_001142800.2(EYS):c.7793G>A (p.Gly2598Asp) rs527236064
NM_001142800.2(EYS):c.7797_7800del (p.His2599fs) rs2149664330
NM_001142800.2(EYS):c.7826G>C (p.Cys2609Ser) rs755966517
NM_001142800.2(EYS):c.7899-8A>G rs1769675220
NM_001142800.2(EYS):c.7915G>A (p.Gly2639Arg) rs778077385
NM_001142800.2(EYS):c.7921A>T (p.Lys2641Ter)
NM_001142800.2(EYS):c.7923del (p.Gly2642fs)
NM_001142800.2(EYS):c.7943_7944del (p.Thr2648fs) rs1278985995
NM_001142800.2(EYS):c.803del (p.Gly268fs) rs1766006937
NM_001142800.2(EYS):c.8044_8045insA (p.Gly2682fs) rs1769668162
NM_001142800.2(EYS):c.8071+2del
NM_001142800.2(EYS):c.8072-2A>G
NM_001142800.2(EYS):c.8098A>T (p.Arg2700Ter)
NM_001142800.2(EYS):c.8104A>C (p.Asn2702His) rs1768627778
NM_001142800.2(EYS):c.8105del (p.Asn2702fs) rs1582146096
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.8150dup (p.Thr2718fs)
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.8167C>T (p.Gln2723Ter) rs1168129071
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.8211A>C (p.Ala2737=) rs1011193191
NM_001142800.2(EYS):c.8230T>C (p.Ser2744Pro) rs1768622052
NM_001142800.2(EYS):c.830del (p.Ser277fs)
NM_001142800.2(EYS):c.847G>A (p.Asp283Asn) rs1766003671
NM_001142800.2(EYS):c.862+2T>C
NM_001142800.2(EYS):c.863-21_872delinsTTTCT
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.873T>A (p.Cys291Ter) rs777482895
NM_001142800.2(EYS):c.875_890delinsTTTCT (p.Glu292fs) rs1582249186
NM_001142800.2(EYS):c.892del (p.Cys298fs)
NM_001142800.2(EYS):c.910T>C (p.Trp304Arg) rs2150365572
NM_001142800.2(EYS):c.910dup (p.Trp304fs) rs34676630
NM_001142800.2(EYS):c.919G>A (p.Gly307Arg) rs1766684069
NM_001142800.2(EYS):c.927C>A (p.Cys309Ter)
NM_001142800.2(EYS):c.942del (p.Ala315fs)
NM_001142800.2(EYS):c.953A>C (p.Tyr318Ser) rs772989862
NM_001142800.2(EYS):c.95G>A (p.Trp32Ter)
NM_001142800.2(EYS):c.984del (p.Asn328fs) rs1766679809
NM_001142800.2(EYS):c.988G>T (p.Glu330Ter)
NM_001142800.2:c.2024-5718_2260-10064del
NM_001142800.2:c.6425-7585_7056-7439dup
Single allele

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