ClinVar Miner

List of variants in gene EYS reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3552
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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.2024-14_2024-13insT rs142590049 0.21040
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.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.1459+20T>A rs115475187 0.01473
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.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.988G>A (p.Glu330Lys) rs144803840 0.00217
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.5233G>A (p.Asp1745Asn) rs145274061 0.00118
NM_001142800.2(EYS):c.3877+17A>G rs749379421 0.00115
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.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.5240A>G (p.Glu1747Gly) rs535663619 0.00070
NM_001142800.2(EYS):c.1460-20T>G rs57139139 0.00069
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.-482C>T rs1032347546 0.00066
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.1599+13T>C rs182876572 0.00058
NM_001142800.2(EYS):c.-521C>T rs769167992 0.00057
NM_001142800.2(EYS):c.7506C>T (p.Ser2502=) rs77113519 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.6725+18C>T rs370308434 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.6645G>T (p.Gly2215=) rs376974348 0.00047
NM_001142800.2(EYS):c.2024-15T>C rs561166342 0.00046
NM_001142800.2(EYS):c.-101G>A rs564008138 0.00044
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.2553C>T (p.Asn851=) rs771641817 0.00037
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.2259+20T>C rs187199454 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.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.-525T>G rs148352900 0.00026
NM_001142800.2(EYS):c.3632T>C (p.Leu1211Pro) rs955526009 0.00026
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.2992+7C>A rs371293011 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.862+20A>G rs371205048 0.00021
NM_001142800.2(EYS):c.2470T>C (p.Cys824Arg) rs761721655 0.00020
NM_001142800.2(EYS):c.6273T>C (p.Thr2091=) rs568000643 0.00020
NM_001142800.2(EYS):c.801T>C (p.His267=) rs147376346 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.2822G>T (p.Gly941Val) rs749101387 0.00019
NM_001142800.2(EYS):c.7578+19G>A rs375442777 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.3078T>C (p.Tyr1026=) rs988768937 0.00018
NM_001142800.2(EYS):c.-78T>A rs190155823 0.00017
NM_001142800.2(EYS):c.1059T>A (p.Asp353Glu) rs138954858 0.00017
NM_001142800.2(EYS):c.3447T>C (p.Cys1149=) rs192254604 0.00017
NM_001142800.2(EYS):c.5532T>C (p.Pro1844=) rs545805162 0.00017
NM_001142800.2(EYS):c.719A>G (p.Tyr240Cys) rs150502410 0.00017
NM_001142800.2(EYS):c.-379C>G rs766649754 0.00016
NM_001142800.2(EYS):c.3129C>T (p.Ala1043=) rs911291244 0.00016
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.5645-16C>T rs529469993 0.00016
NM_001142800.2(EYS):c.5883T>G (p.Thr1961=) rs779530881 0.00016
NM_001142800.2(EYS):c.6732A>G (p.Thr2244=) rs899618893 0.00016
NM_001142800.2(EYS):c.7507G>A (p.Glu2503Lys) rs768964978 0.00016
NM_001142800.2(EYS):c.453T>A (p.Val151=) rs373183802 0.00015
NM_001142800.2(EYS):c.4221A>G (p.Gln1407=) rs527342098 0.00014
NM_001142800.2(EYS):c.4640A>G (p.Asp1547Gly) rs1010782574 0.00014
NM_001142800.2(EYS):c.5927+10T>C rs778163566 0.00014
NM_001142800.2(EYS):c.6436T>C (p.Phe2146Leu) rs545408886 0.00014
NM_001142800.2(EYS):c.4067G>A (p.Arg1356His) rs961867431 0.00013
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.16A>G (p.Ile6Val) rs779012572 0.00011
NM_001142800.2(EYS):c.2076T>C (p.Asn692=) rs541810987 0.00011
NM_001142800.2(EYS):c.2847-14C>A rs754629386 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.5199A>G (p.Thr1733=) rs762653244 0.00011
NM_001142800.2(EYS):c.6188G>T (p.Cys2063Phe) rs138123230 0.00011
NM_001142800.2(EYS):c.7056-16T>A rs776332288 0.00011
NM_001142800.2(EYS):c.7229-3C>T rs962905685 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.2513C>T (p.Pro838Leu) rs867716723 0.00010
NM_001142800.2(EYS):c.3202G>A (p.Asp1068Asn) rs747998145 0.00010
NM_001142800.2(EYS):c.7609G>A (p.Ala2537Thr) rs189406424 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.2023+15T>C rs1489586514 0.00009
NM_001142800.2(EYS):c.2023+6_2023+7insG rs397797960 0.00009
NM_001142800.2(EYS):c.3164+11_3164+12insC rs745862028 0.00009
NM_001142800.2(EYS):c.3878-12T>A rs1018828002 0.00009
NM_001142800.2(EYS):c.5031C>T (p.Asp1677=) rs970423234 0.00009
NM_001142800.2(EYS):c.5567G>A (p.Arg1856Gln) rs563441026 0.00009
NM_001142800.2(EYS):c.7055+20T>C rs1008346163 0.00009
NM_001142800.2(EYS):c.7284A>C (p.Ser2428=) rs775877185 0.00009
NM_001142800.2(EYS):c.7608C>T (p.Ile2536=) rs562496683 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.1890C>T (p.Ser630=) rs904080713 0.00008
NM_001142800.2(EYS):c.18C>T (p.Ile6=) rs771355112 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.5376A>G (p.Ala1792=) rs1037016919 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.711G>A (p.Glu237=) rs375370385 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.1300-17T>G rs1025921404 0.00007
NM_001142800.2(EYS):c.380G>T (p.Gly127Val) rs201076128 0.00007
NM_001142800.2(EYS):c.4270A>G (p.Thr1424Ala) rs1045167208 0.00007
NM_001142800.2(EYS):c.5189G>A (p.Gly1730Glu) rs927928681 0.00007
NM_001142800.2(EYS):c.5644+13G>A rs775108781 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.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_001142800.2(EYS):c.6835-19G>A rs528900765 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.881C>G (p.Ser294Ter) rs752683070 0.00007
NM_001142800.2(EYS):c.-209C>T rs1004023794 0.00006
NM_001142800.2(EYS):c.-259T>C rs1014994890 0.00006
NM_001142800.2(EYS):c.-272T>C rs747914953 0.00006
NM_001142800.2(EYS):c.1461A>T (p.Gly487=) rs376870255 0.00006
NM_001142800.2(EYS):c.1479C>T (p.Cys493=) rs774464019 0.00006
NM_001142800.2(EYS):c.1766+15T>C rs147359582 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.2024G>A (p.Gly675Asp) rs1323236780 0.00006
NM_001142800.2(EYS):c.2381+7A>C rs1002514488 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.3406A>T (p.Ile1136Phe) rs564589394 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.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.5296C>T (p.His1766Tyr) rs190942468 0.00006
NM_001142800.2(EYS):c.5392G>C (p.Ala1798Pro) rs927982487 0.00006
NM_001142800.2(EYS):c.5644+20T>C rs771570791 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.7055+13C>G rs766150006 0.00006
NM_001142800.2(EYS):c.7117G>A (p.Ala2373Thr) rs372512515 0.00006
NM_001142800.2(EYS):c.749-16T>C rs182342981 0.00006
NM_001142800.2(EYS):c.8072-5C>A rs1427347993 0.00006
NM_001142800.2(EYS):c.-428C>T rs913507265 0.00005
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.2028G>A (p.Thr676=) rs758722034 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.2948A>T (p.Tyr983Phe) rs954643162 0.00005
NM_001142800.2(EYS):c.3010A>C (p.Asn1004His) rs781222768 0.00005
NM_001142800.2(EYS):c.333C>T (p.Phe111=) rs536110253 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.4159A>G (p.Arg1387Gly) rs758327507 0.00005
NM_001142800.2(EYS):c.522C>T (p.Cys174=) rs373343831 0.00005
NM_001142800.2(EYS):c.5284T>C (p.Ser1762Pro) rs749598687 0.00005
NM_001142800.2(EYS):c.557A>G (p.His186Arg) rs140341077 0.00005
NM_001142800.2(EYS):c.586A>C (p.Lys196Gln) rs749038401 0.00005
NM_001142800.2(EYS):c.6381A>G (p.Gln2127=) rs374933460 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.904C>T (p.Leu302Phe) rs202064483 0.00005
NM_001142800.2(EYS):c.-121A>T rs963390874 0.00004
NM_001142800.2(EYS):c.-134G>T rs1355531772 0.00004
NM_001142800.2(EYS):c.-357C>A rs890952509 0.00004
NM_001142800.2(EYS):c.-4G>A rs185441774 0.00004
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.1185-9T>C rs369985110 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.1588G>A (p.Gly530Ser) rs779678010 0.00004
NM_001142800.2(EYS):c.1599+18A>G rs766483614 0.00004
NM_001142800.2(EYS):c.1683C>T (p.Asn561=) rs757359666 0.00004
NM_001142800.2(EYS):c.207A>T (p.Ser69=) rs984507734 0.00004
NM_001142800.2(EYS):c.2106T>C (p.Asn702=) rs1233162035 0.00004
NM_001142800.2(EYS):c.2222C>T (p.Ala741Val) rs1009558644 0.00004
NM_001142800.2(EYS):c.2280A>G (p.Leu760=) rs923201434 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.2595A>G (p.Thr865=) rs1309017000 0.00004
NM_001142800.2(EYS):c.3028T>C (p.Ser1010Pro) rs557931285 0.00004
NM_001142800.2(EYS):c.3061G>A (p.Asp1021Asn) rs750283324 0.00004
NM_001142800.2(EYS):c.3164+7A>T rs963551759 0.00004
NM_001142800.2(EYS):c.3185A>T (p.Glu1062Val) rs888286822 0.00004
NM_001142800.2(EYS):c.3226T>C (p.Cys1076Arg) rs780935714 0.00004
NM_001142800.2(EYS):c.3243+3A>G rs75242532 0.00004
NM_001142800.2(EYS):c.3314G>T (p.Cys1105Phe) rs966564796 0.00004
NM_001142800.2(EYS):c.3507A>G (p.Pro1169=) rs750490503 0.00004
NM_001142800.2(EYS):c.3645T>A (p.Asn1215Lys) rs369993811 0.00004
NM_001142800.2(EYS):c.3835A>G (p.Thr1279Ala) rs761504179 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.4451G>A (p.Trp1484Ter) rs1239854361 0.00004
NM_001142800.2(EYS):c.5325A>G (p.Pro1775=) rs900240059 0.00004
NM_001142800.2(EYS):c.5411T>C (p.Ile1804Thr) rs368097230 0.00004
NM_001142800.2(EYS):c.5426C>A (p.Ser1809Tyr) rs1333472588 0.00004
NM_001142800.2(EYS):c.5455T>G (p.Tyr1819Asp) rs954945771 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.5766T>C (p.Tyr1922=) rs111663949 0.00004
NM_001142800.2(EYS):c.5775A>G (p.Gln1925=) rs1465801209 0.00004
NM_001142800.2(EYS):c.5836-8C>T rs747391328 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.6720A>G (p.Thr2240=) rs745673257 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.7251G>A (p.Arg2417=) rs572836860 0.00004
NM_001142800.2(EYS):c.7411+11C>T rs886061668 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.7517A>G (p.Asn2506Ser) rs1358747928 0.00004
NM_001142800.2(EYS):c.7579-20G>T rs779287638 0.00004
NM_001142800.2(EYS):c.7669G>A (p.Glu2557Lys) rs945318474 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.8229A>G (p.Gln2743=) rs1285145867 0.00004
NM_001142800.2(EYS):c.8233+7T>C rs147138312 0.00004
NM_001142800.2(EYS):c.863-15T>A rs368478214 0.00004
NM_001142800.2(EYS):c.967G>T (p.Gly323Ter) rs746499646 0.00004
NM_001142800.2(EYS):c.1135T>C (p.Leu379=) rs376058849 0.00003
NM_001142800.2(EYS):c.1154G>A (p.Cys385Tyr) rs775400880 0.00003
NM_001142800.2(EYS):c.1184+7T>C rs769527969 0.00003
NM_001142800.2(EYS):c.1203T>C (p.Thr401=) rs367639489 0.00003
NM_001142800.2(EYS):c.1300-6T>C rs773799566 0.00003
NM_001142800.2(EYS):c.1314A>G (p.Pro438=) rs375043207 0.00003
NM_001142800.2(EYS):c.132A>G (p.Thr44=) rs754955077 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.1766+16T>G rs372616764 0.00003
NM_001142800.2(EYS):c.1971T>A (p.Thr657=) rs1189097279 0.00003
NM_001142800.2(EYS):c.2024-11A>G rs769319791 0.00003
NM_001142800.2(EYS):c.2024-19T>C rs893610471 0.00003
NM_001142800.2(EYS):c.2394A>G (p.Thr798=) rs1211173176 0.00003
NM_001142800.2(EYS):c.2451A>G (p.Pro817=) rs976957949 0.00003
NM_001142800.2(EYS):c.249A>G (p.Gln83=) rs748381419 0.00003
NM_001142800.2(EYS):c.2593A>G (p.Thr865Ala) rs1228765084 0.00003
NM_001142800.2(EYS):c.2642-8C>T rs1417247668 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.3164+8T>C rs1385606496 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.3792C>T (p.Pro1264=) rs551318605 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.4102G>A (p.Val1368Ile) rs1314888456 0.00003
NM_001142800.2(EYS):c.4120C>T (p.Arg1374Ter) rs928803207 0.00003
NM_001142800.2(EYS):c.4271C>T (p.Thr1424Met) rs762521982 0.00003
NM_001142800.2(EYS):c.4308T>G (p.Ile1436Met) rs1402137490 0.00003
NM_001142800.2(EYS):c.462T>C (p.Ser154=) rs1291530765 0.00003
NM_001142800.2(EYS):c.5330T>C (p.Leu1777Ser) rs947209456 0.00003
NM_001142800.2(EYS):c.5418G>A (p.Thr1806=) rs550696465 0.00003
NM_001142800.2(EYS):c.5645-8C>T rs886044616 0.00003
NM_001142800.2(EYS):c.5654G>T (p.Cys1885Phe) rs528824271 0.00003
NM_001142800.2(EYS):c.5659C>T (p.Arg1887Cys) rs748501500 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.5835+12A>G rs988678775 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.6010G>A (p.Gly2004Arg) rs535282640 0.00003
NM_001142800.2(EYS):c.6062T>C (p.Leu2021Pro) rs1372426303 0.00003
NM_001142800.2(EYS):c.606C>T (p.Cys202=) rs149741810 0.00003
NM_001142800.2(EYS):c.6079-9C>G rs1444608582 0.00003
NM_001142800.2(EYS):c.6151C>T (p.Pro2051Ser) rs1187973861 0.00003
NM_001142800.2(EYS):c.6323G>A (p.Cys2108Tyr) rs770111708 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.6726-7C>T rs886782734 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.7083T>C (p.Cys2361=) rs777738708 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.7820G>T (p.Gly2607Val) rs1328331376 0.00003
NM_001142800.2(EYS):c.7823A>G (p.Gln2608Arg) rs746055058 0.00003
NM_001142800.2(EYS):c.7937C>T (p.Thr2646Ile) rs949510910 0.00003
NM_001142800.2(EYS):c.7994G>A (p.Gly2665Glu) rs1435861529 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.-120G>C rs1482471142 0.00002
NM_001142800.2(EYS):c.-252G>A rs1440875342 0.00002
NM_001142800.2(EYS):c.-27T>C rs769133109 0.00002
NM_001142800.2(EYS):c.-351C>T rs761045622 0.00002
NM_001142800.2(EYS):c.-424C>A rs1287269096 0.00002
NM_001142800.2(EYS):c.-448+5G>A rs1175129177 0.00002
NM_001142800.2(EYS):c.-492T>A rs954063114 0.00002
NM_001142800.2(EYS):c.-529G>A rs931459704 0.00002
NM_001142800.2(EYS):c.1056+7C>A rs776621229 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.151T>C (p.Leu51=) rs757997501 0.00002
NM_001142800.2(EYS):c.1665T>C (p.Phe555=) rs376078491 0.00002
NM_001142800.2(EYS):c.1685T>C (p.Met562Thr) rs371667376 0.00002
NM_001142800.2(EYS):c.1751A>C (p.Glu584Ala) rs779081564 0.00002
NM_001142800.2(EYS):c.1766+1G>T rs776204925 0.00002
NM_001142800.2(EYS):c.1820A>G (p.Tyr607Cys) rs777062237 0.00002
NM_001142800.2(EYS):c.1835A>G (p.His612Arg) rs1235347965 0.00002
NM_001142800.2(EYS):c.1929T>C (p.Asp643=) rs1412901872 0.00002
NM_001142800.2(EYS):c.1999C>T (p.Arg667Cys) rs765763663 0.00002
NM_001142800.2(EYS):c.2259+16C>T rs755321049 0.00002
NM_001142800.2(EYS):c.2259+1G>A rs752736741 0.00002
NM_001142800.2(EYS):c.2260-12A>G rs908583068 0.00002
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu) rs74419361 0.00002
NM_001142800.2(EYS):c.2625T>C (p.His875=) rs778630663 0.00002
NM_001142800.2(EYS):c.2738+19G>A rs1013111745 0.00002
NM_001142800.2(EYS):c.2748C>T (p.Cys916=) rs1391928253 0.00002
NM_001142800.2(EYS):c.2770C>G (p.Leu924Val) rs1040002337 0.00002
NM_001142800.2(EYS):c.2841A>G (p.Thr947=) rs777627338 0.00002
NM_001142800.2(EYS):c.296C>T (p.Pro99Leu) rs1239472721 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.3210T>C (p.Asp1070=) rs1471482693 0.00002
NM_001142800.2(EYS):c.32dup (p.Met12fs) rs779372264 0.00002
NM_001142800.2(EYS):c.3333T>A (p.Gly1111=) rs1463620153 0.00002
NM_001142800.2(EYS):c.341G>A (p.Cys114Tyr) rs533909681 0.00002
NM_001142800.2(EYS):c.3444-7T>A rs1266219689 0.00002
NM_001142800.2(EYS):c.3503C>T (p.Ser1168Leu) rs894122437 0.00002
NM_001142800.2(EYS):c.3569-12T>C rs575959706 0.00002
NM_001142800.2(EYS):c.3569-7T>G rs1036723042 0.00002
NM_001142800.2(EYS):c.3808G>A (p.Val1270Ile) rs1284747107 0.00002
NM_001142800.2(EYS):c.3822A>C (p.Pro1274=) rs924477825 0.00002
NM_001142800.2(EYS):c.3878G>T (p.Gly1293Val) rs763158109 0.00002
NM_001142800.2(EYS):c.4003G>T (p.Ala1335Ser) rs761342525 0.00002
NM_001142800.2(EYS):c.4101G>A (p.Ser1367=) rs1358175561 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.4444G>A (p.Glu1482Lys) rs1022693876 0.00002
NM_001142800.2(EYS):c.4526A>G (p.Asn1509Ser) rs531187735 0.00002
NM_001142800.2(EYS):c.492A>G (p.Arg164=) rs983386840 0.00002
NM_001142800.2(EYS):c.5101C>T (p.Leu1701=) rs776193099 0.00002
NM_001142800.2(EYS):c.511C>T (p.Gln171Ter) rs747865323 0.00002
NM_001142800.2(EYS):c.5128A>G (p.Thr1710Ala) rs947358402 0.00002
NM_001142800.2(EYS):c.516G>A (p.Gln172=) rs1234486237 0.00002
NM_001142800.2(EYS):c.5371G>T (p.Val1791Phe) rs1766369643 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.5901C>T (p.Asn1967=) rs1024722910 0.00002
NM_001142800.2(EYS):c.5903G>A (p.Gly1968Glu) rs754069174 0.00002
NM_001142800.2(EYS):c.597C>T (p.Ser199=) rs759277468 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.60T>C (p.Asn20=) rs766048690 0.00002
NM_001142800.2(EYS):c.6128T>A (p.Ile2043Lys) rs1367602173 0.00002
NM_001142800.2(EYS):c.6192-1G>T rs570020451 0.00002
NM_001142800.2(EYS):c.6424+8A>G rs1025892256 0.00002
NM_001142800.2(EYS):c.6571+15T>A rs777285010 0.00002
NM_001142800.2(EYS):c.6642T>C (p.Tyr2214=) rs1335465165 0.00002
NM_001142800.2(EYS):c.6729C>T (p.Tyr2243=) rs1357542778 0.00002
NM_001142800.2(EYS):c.672T>A (p.Asn224Lys) rs754399844 0.00002
NM_001142800.2(EYS):c.6779C>T (p.Ala2260Val) rs1393343998 0.00002
NM_001142800.2(EYS):c.6873A>G (p.Ala2291=) rs1276691393 0.00002
NM_001142800.2(EYS):c.6934C>G (p.Leu2312Val) rs564315274 0.00002
NM_001142800.2(EYS):c.6966C>T (p.Ile2322=) rs966745404 0.00002
NM_001142800.2(EYS):c.6982G>A (p.Gly2328Arg) rs746217317 0.00002
NM_001142800.2(EYS):c.7141G>A (p.Gly2381Arg) rs577000027 0.00002
NM_001142800.2(EYS):c.7199A>G (p.Tyr2400Cys) rs200471206 0.00002
NM_001142800.2(EYS):c.7212A>C (p.Gly2404=) rs1178964789 0.00002
NM_001142800.2(EYS):c.7228+7G>A rs1200302625 0.00002
NM_001142800.2(EYS):c.7315A>T (p.Ser2439Cys) rs1034996144 0.00002
NM_001142800.2(EYS):c.7336C>T (p.Leu2446=) rs1163160094 0.00002
NM_001142800.2(EYS):c.7459G>A (p.Val2487Met) rs1204307982 0.00002
NM_001142800.2(EYS):c.7579-12T>C rs867005897 0.00002
NM_001142800.2(EYS):c.7579-5C>T rs948852415 0.00002
NM_001142800.2(EYS):c.7699G>A (p.Ala2567Thr) rs1208734040 0.00002
NM_001142800.2(EYS):c.7816G>T (p.Val2606Phe) rs1770111408 0.00002
NM_001142800.2(EYS):c.7898+12G>A rs557020239 0.00002
NM_001142800.2(EYS):c.7899-20G>A rs774620129 0.00002
NM_001142800.2(EYS):c.78_79dup (p.Gln27fs) rs1352380841 0.00002
NM_001142800.2(EYS):c.7927T>C (p.Ser2643Pro) rs748043031 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.863-5T>G rs769184430 0.00002
NM_001142800.2(EYS):c.-133G>C rs1319482879 0.00001
NM_001142800.2(EYS):c.-201C>T rs555933041 0.00001
NM_001142800.2(EYS):c.-211C>T rs1378885286 0.00001
NM_001142800.2(EYS):c.-277C>G rs1379087184 0.00001
NM_001142800.2(EYS):c.-320A>G rs969388354 0.00001
NM_001142800.2(EYS):c.-396G>C rs575689241 0.00001
NM_001142800.2(EYS):c.-413T>A rs1251075689 0.00001
NM_001142800.2(EYS):c.-473G>T rs1769910185 0.00001
NM_001142800.2(EYS):c.-495T>C rs886061688 0.00001
NM_001142800.2(EYS):c.-497_-496insTTA rs1353080432 0.00001
NM_001142800.2(EYS):c.-51C>T rs1239863395 0.00001
NM_001142800.2(EYS):c.1005G>T (p.Glu335Asp) rs80095433 0.00001
NM_001142800.2(EYS):c.1011A>G (p.Ser337=) rs544765237 0.00001
NM_001142800.2(EYS):c.1020A>T (p.Pro340=) rs774480980 0.00001
NM_001142800.2(EYS):c.1056+1G>A rs1195522061 0.00001
NM_001142800.2(EYS):c.1057-1G>A rs776564041 0.00001
NM_001142800.2(EYS):c.1065G>A (p.Met355Ile) rs1449183516 0.00001
NM_001142800.2(EYS):c.1096C>T (p.Leu366Phe) rs770566051 0.00001
NM_001142800.2(EYS):c.1122T>C (p.Cys374=) rs1363011952 0.00001
NM_001142800.2(EYS):c.1158G>A (p.Lys386=) rs1766549682 0.00001
NM_001142800.2(EYS):c.1167G>A (p.Glu389=) rs759581469 0.00001
NM_001142800.2(EYS):c.1209A>G (p.Lys403=) rs541807757 0.00001
NM_001142800.2(EYS):c.1221A>G (p.Lys407=) rs1765727318 0.00001
NM_001142800.2(EYS):c.1233C>T (p.His411=) rs772593328 0.00001
NM_001142800.2(EYS):c.1247G>A (p.Ser416Asn) rs761318837 0.00001
NM_001142800.2(EYS):c.1267G>A (p.Glu423Lys) rs376209811 0.00001
NM_001142800.2(EYS):c.1272G>T (p.Trp424Cys) rs1488525582 0.00001
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter) rs1471994744 0.00001
NM_001142800.2(EYS):c.1316G>T (p.Gly439Val) rs1183176426 0.00001
NM_001142800.2(EYS):c.1321A>C (p.Thr441Pro) rs1308471912 0.00001
NM_001142800.2(EYS):c.1332A>G (p.Pro444=) rs1265255465 0.00001
NM_001142800.2(EYS):c.1350T>C (p.Asn450=) rs371781563 0.00001
NM_001142800.2(EYS):c.1365T>C (p.His455=) rs1456193641 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.1447T>C (p.Leu483=) rs778634641 0.00001
NM_001142800.2(EYS):c.1456G>T (p.Ala486Ser) rs1020404683 0.00001
NM_001142800.2(EYS):c.1460-5T>A rs1000894278 0.00001
NM_001142800.2(EYS):c.1485G>A (p.Gly495=) rs1224745720 0.00001
NM_001142800.2(EYS):c.14C>A (p.Ser5Ter) rs745916400 0.00001
NM_001142800.2(EYS):c.1515A>G (p.Ala505=) rs1582164157 0.00001
NM_001142800.2(EYS):c.1516A>G (p.Asn506Asp) rs1770304523 0.00001
NM_001142800.2(EYS):c.152T>C (p.Leu51Ser) rs1489559245 0.00001
NM_001142800.2(EYS):c.1539T>C (p.Tyr513=) rs778180391 0.00001
NM_001142800.2(EYS):c.1545C>T (p.Asn515=) rs767589543 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.1600-11C>T rs755371579 0.00001
NM_001142800.2(EYS):c.1655A>T (p.Tyr552Phe) rs369437226 0.00001
NM_001142800.2(EYS):c.168T>C (p.Asp56=) rs1766210597 0.00001
NM_001142800.2(EYS):c.1707T>C (p.Asp569=) rs1476671834 0.00001
NM_001142800.2(EYS):c.1741T>G (p.Cys581Gly) rs558477347 0.00001
NM_001142800.2(EYS):c.1749T>C (p.Asp583=) rs1235629295 0.00001
NM_001142800.2(EYS):c.174G>A (p.Trp58Ter) rs1177052380 0.00001
NM_001142800.2(EYS):c.1767-18C>T rs1433100876 0.00001
NM_001142800.2(EYS):c.1788C>T (p.Tyr596=) rs765350464 0.00001
NM_001142800.2(EYS):c.1798T>C (p.Leu600=) rs1394114017 0.00001
NM_001142800.2(EYS):c.1811A>G (p.Asn604Ser) rs1274107268 0.00001
NM_001142800.2(EYS):c.1812del (p.Asn604fs) rs1216698566 0.00001
NM_001142800.2(EYS):c.1845A>T (p.Ser615=) rs1441340197 0.00001
NM_001142800.2(EYS):c.1854C>A (p.Gly618=) rs1582111318 0.00001
NM_001142800.2(EYS):c.1867C>A (p.Leu623Ile) rs1359987940 0.00001
NM_001142800.2(EYS):c.186A>C (p.Val62=) rs1766209221 0.00001
NM_001142800.2(EYS):c.1871C>T (p.Ser624Leu) rs548565748 0.00001
NM_001142800.2(EYS):c.1920T>C (p.Cys640=) rs1374217956 0.00001
NM_001142800.2(EYS):c.1935A>G (p.Glu645=) rs761881037 0.00001
NM_001142800.2(EYS):c.1982T>A (p.Leu661Ter) rs1295206142 0.00001
NM_001142800.2(EYS):c.2004G>A (p.Lys668=) rs1768647597 0.00001
NM_001142800.2(EYS):c.2023+5G>A rs1287889008 0.00001
NM_001142800.2(EYS):c.2049T>C (p.Asp683=) rs1170229751 0.00001
NM_001142800.2(EYS):c.2085C>T (p.Thr695=) rs1479633946 0.00001
NM_001142800.2(EYS):c.2102G>A (p.Gly701Asp) rs1027731148 0.00001
NM_001142800.2(EYS):c.2113T>C (p.Cys705Arg) rs1327358769 0.00001
NM_001142800.2(EYS):c.2115C>T (p.Cys705=) rs1394975481 0.00001
NM_001142800.2(EYS):c.2137+8A>G rs1417171851 0.00001
NM_001142800.2(EYS):c.2160A>G (p.Leu720=) rs1186966458 0.00001
NM_001142800.2(EYS):c.2230C>T (p.His744Tyr) rs1458688528 0.00001
NM_001142800.2(EYS):c.2259+7A>G rs1332103007 0.00001
NM_001142800.2(EYS):c.2260-6T>C rs1769274047 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.2319T>C (p.Asn773=) rs1452209512 0.00001
NM_001142800.2(EYS):c.2326A>G (p.Lys776Glu) rs1393913948 0.00001
NM_001142800.2(EYS):c.2337T>C (p.Pro779=) rs1240951764 0.00001
NM_001142800.2(EYS):c.2346C>T (p.Asn782=) rs989960179 0.00001
NM_001142800.2(EYS):c.2355C>T (p.Thr785=) rs924694135 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.2381+10A>C rs1207484094 0.00001
NM_001142800.2(EYS):c.2381+12A>G rs997151187 0.00001
NM_001142800.2(EYS):c.2391T>C (p.Cys797=) rs780170533 0.00001
NM_001142800.2(EYS):c.2423A>C (p.Glu808Ala) rs1329809440 0.00001
NM_001142800.2(EYS):c.2443T>C (p.Ser815Pro) rs1303059939 0.00001
NM_001142800.2(EYS):c.2463A>G (p.Gly821=) rs765155122 0.00001
NM_001142800.2(EYS):c.2490T>C (p.Pro830=) rs150194717 0.00001
NM_001142800.2(EYS):c.2495A>G (p.Gln832Arg) rs1459583624 0.00001
NM_001142800.2(EYS):c.250T>C (p.Leu84=) rs781133474 0.00001
NM_001142800.2(EYS):c.2511C>T (p.Cys837=) rs999155902 0.00001
NM_001142800.2(EYS):c.2540A>G (p.His847Arg) rs1460353199 0.00001
NM_001142800.2(EYS):c.2565A>G (p.Leu855=) rs922753963 0.00001
NM_001142800.2(EYS):c.2577T>C (p.Pro859=) rs1265766894 0.00001
NM_001142800.2(EYS):c.2622G>T (p.Gln874His) rs377592930 0.00001
NM_001142800.2(EYS):c.2631T>C (p.Ile877=) rs1392027064 0.00001
NM_001142800.2(EYS):c.2641+2T>C rs960578029 0.00001
NM_001142800.2(EYS):c.2641+7G>A rs757160958 0.00001
NM_001142800.2(EYS):c.2641+8C>A rs886061683 0.00001
NM_001142800.2(EYS):c.2642-10C>T rs1562251018 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.2722A>G (p.Met908Val) rs951142049 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.2836C>T (p.Leu946=) rs981685069 0.00001
NM_001142800.2(EYS):c.2881C>T (p.Pro961Ser) rs1170138781 0.00001
NM_001142800.2(EYS):c.2883C>T (p.Pro961=) rs1022377816 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.2944G>T (p.Val982Phe) rs1347071957 0.00001
NM_001142800.2(EYS):c.2949C>T (p.Tyr983=) rs772081210 0.00001
NM_001142800.2(EYS):c.2964C>G (p.Tyr988Ter) rs1245121527 0.00001
NM_001142800.2(EYS):c.2988T>C (p.Tyr996=) rs1413232600 0.00001
NM_001142800.2(EYS):c.2992+12T>A rs1064794365 0.00001
NM_001142800.2(EYS):c.2992+16T>C rs1444239296 0.00001
NM_001142800.2(EYS):c.3003T>A (p.Cys1001Ter) rs1389794536 0.00001
NM_001142800.2(EYS):c.3027A>G (p.Leu1009=) rs900271990 0.00001
NM_001142800.2(EYS):c.3036C>G (p.Pro1012=) rs1410358551 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.3081C>T (p.Thr1027=) rs1554207086 0.00001
NM_001142800.2(EYS):c.3082T>A (p.Cys1028Ser) rs1406985657 0.00001
NM_001142800.2(EYS):c.3083G>C (p.Cys1028Ser) rs1407301072 0.00001
NM_001142800.2(EYS):c.3094A>T (p.Ser1032Cys) rs982589279 0.00001
NM_001142800.2(EYS):c.3141T>G (p.Leu1047=) rs955368246 0.00001
NM_001142800.2(EYS):c.3156A>G (p.Leu1052=) rs1178403313 0.00001
NM_001142800.2(EYS):c.3164+1G>A rs1029564423 0.00001
NM_001142800.2(EYS):c.3164+7del rs1562210133 0.00001
NM_001142800.2(EYS):c.3164+9T>A rs1015121917 0.00001
NM_001142800.2(EYS):c.3165-1G>A rs1349089552 0.00001
NM_001142800.2(EYS):c.3165-9G>C rs1037090161 0.00001
NM_001142800.2(EYS):c.3204T>C (p.Asp1068=) rs923464095 0.00001
NM_001142800.2(EYS):c.3264T>C (p.Cys1088=) rs1316876670 0.00001
NM_001142800.2(EYS):c.3293C>A (p.Ala1098Glu) rs561156283 0.00001
NM_001142800.2(EYS):c.3320G>A (p.Arg1107His) rs758414726 0.00001
NM_001142800.2(EYS):c.3350G>A (p.Ser1117Asn) rs1001606082 0.00001
NM_001142800.2(EYS):c.3420G>A (p.Gly1140=) rs1325335839 0.00001
NM_001142800.2(EYS):c.3426A>G (p.Gly1142=) rs1373584107 0.00001
NM_001142800.2(EYS):c.3443G>A (p.Arg1148Lys) rs1334016191 0.00001
NM_001142800.2(EYS):c.3450T>C (p.Leu1150=) rs1337453505 0.00001
NM_001142800.2(EYS):c.3508T>C (p.Cys1170Arg) rs1243635695 0.00001
NM_001142800.2(EYS):c.3513A>C (p.Leu1171=) rs1767603467 0.00001
NM_001142800.2(EYS):c.3522A>T (p.Ala1174=) rs1292114239 0.00001
NM_001142800.2(EYS):c.3569-10T>C rs1293900692 0.00001
NM_001142800.2(EYS):c.3606C>T (p.Cys1202=) rs1297699863 0.00001
NM_001142800.2(EYS):c.360G>A (p.Thr120=) rs745859722 0.00001
NM_001142800.2(EYS):c.3633C>G (p.Leu1211=) rs765825077 0.00001
NM_001142800.2(EYS):c.3660A>G (p.Thr1220=) rs1323187382 0.00001
NM_001142800.2(EYS):c.3685-8A>G rs1009059396 0.00001
NM_001142800.2(EYS):c.3688T>A (p.Cys1230Ser) rs1258171232 0.00001
NM_001142800.2(EYS):c.3702T>C (p.Leu1234=) rs1026776116 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.3878-6T>C rs1169057656 0.00001
NM_001142800.2(EYS):c.3882A>G (p.Pro1294=) rs572071028 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.3924T>C (p.Thr1308=) rs903929671 0.00001
NM_001142800.2(EYS):c.3941G>A (p.Arg1314Lys) rs1330067403 0.00001
NM_001142800.2(EYS):c.3963C>A (p.Ser1321Arg) rs1176129835 0.00001
NM_001142800.2(EYS):c.3970del (p.Leu1324fs) rs1431710414 0.00001
NM_001142800.2(EYS):c.3971T>C (p.Leu1324Pro) rs945529523 0.00001
NM_001142800.2(EYS):c.3984T>A (p.Ile1328=) rs1282397004 0.00001
NM_001142800.2(EYS):c.4030G>A (p.Asp1344Asn) rs980448170 0.00001
NM_001142800.2(EYS):c.4040C>T (p.Ser1347Phe) rs1381182480 0.00001
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter) rs930421180 0.00001
NM_001142800.2(EYS):c.4062T>C (p.Gly1354=) rs566859485 0.00001
NM_001142800.2(EYS):c.4107A>T (p.Ser1369=) rs996856507 0.00001
NM_001142800.2(EYS):c.4149T>C (p.Phe1383=) rs1562080448 0.00001
NM_001142800.2(EYS):c.414T>C (p.Ser138=) rs1766194192 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.4227A>G (p.Leu1409=) rs756697660 0.00001
NM_001142800.2(EYS):c.4238A>C (p.Asn1413Thr) rs911102553 0.00001
NM_001142800.2(EYS):c.4260T>G (p.Ser1420=) rs1562080300 0.00001
NM_001142800.2(EYS):c.4269A>G (p.Pro1423=) rs1766412284 0.00001
NM_001142800.2(EYS):c.4296A>G (p.Pro1432=) rs1766411414 0.00001
NM_001142800.2(EYS):c.4300G>A (p.Ala1434Thr) rs748234752 0.00001
NM_001142800.2(EYS):c.4302T>A (p.Ala1434=) rs776913463 0.00001
NM_001142800.2(EYS):c.4326A>T (p.Ser1442=) rs1340543682 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.4359C>T (p.Ala1453=) rs1234718880 0.00001
NM_001142800.2(EYS):c.4407T>C (p.Ile1469=) rs1159159521 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.4452G>A (p.Trp1484Ter) rs1428994453 0.00001
NM_001142800.2(EYS):c.4456T>C (p.Leu1486=) rs1312747119 0.00001
NM_001142800.2(EYS):c.4478C>T (p.Pro1493Leu) rs763161282 0.00001
NM_001142800.2(EYS):c.447C>T (p.Ile149=) rs761035271 0.00001
NM_001142800.2(EYS):c.4488T>C (p.Pro1496=) rs773780169 0.00001
NM_001142800.2(EYS):c.4503A>G (p.Ile1501Met) rs765829827 0.00001
NM_001142800.2(EYS):c.4518C>T (p.Thr1506=) rs762462334 0.00001
NM_001142800.2(EYS):c.4545G>A (p.Arg1515=) rs1221908375 0.00001
NM_001142800.2(EYS):c.4638T>G (p.Ala1546=) rs1295600101 0.00001
NM_001142800.2(EYS):c.4651G>T (p.Glu1551Ter) rs1305702728 0.00001
NM_001142800.2(EYS):c.46A>T (p.Ser16Cys) rs928137858 0.00001
NM_001142800.2(EYS):c.4715A>G (p.Asp1572Gly) rs1766395912 0.00001
NM_001142800.2(EYS):c.4718A>C (p.Gln1573Pro) rs1248199893 0.00001
NM_001142800.2(EYS):c.4725G>A (p.Leu1575=) rs1467576430 0.00001
NM_001142800.2(EYS):c.4740C>T (p.Ser1580=) rs1437138169 0.00001
NM_001142800.2(EYS):c.4773G>A (p.Ala1591=) rs1262061805 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.4824G>T (p.Gly1608=) rs1766390148 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.4845T>C (p.Thr1615=) rs1562079704 0.00001
NM_001142800.2(EYS):c.487C>T (p.Leu163Phe) rs144074328 0.00001
NM_001142800.2(EYS):c.4890T>C (p.Phe1630=) rs922506231 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.4959T>C (p.Ser1653=) rs1239943833 0.00001
NM_001142800.2(EYS):c.4962T>C (p.Asn1654=) rs751219694 0.00001
NM_001142800.2(EYS):c.4964T>C (p.Leu1655Ser) rs765407986 0.00001
NM_001142800.2(EYS):c.5022C>G (p.Ile1674Met) rs1024206960 0.00001
NM_001142800.2(EYS):c.5054C>G (p.Ser1685Ter) rs1293996279 0.00001
NM_001142800.2(EYS):c.5073A>G (p.Glu1691=) rs774506293 0.00001
NM_001142800.2(EYS):c.5100A>T (p.Lys1700Asn) rs1267480820 0.00001
NM_001142800.2(EYS):c.5103A>G (p.Leu1701=) rs1231741405 0.00001
NM_001142800.2(EYS):c.5110A>T (p.Ile1704Leu) rs1458502593 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.5196T>C (p.His1732=) rs1440656092 0.00001
NM_001142800.2(EYS):c.5200C>T (p.Leu1734=) rs1202220867 0.00001
NM_001142800.2(EYS):c.5213A>T (p.His1738Leu) rs1766376015 0.00001
NM_001142800.2(EYS):c.5214C>T (p.His1738=) rs765960053 0.00001
NM_001142800.2(EYS):c.5229T>C (p.Ser1743=) rs1378777319 0.00001
NM_001142800.2(EYS):c.5241G>A (p.Glu1747=) rs1402453288 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.5319T>C (p.Asn1773=) rs1314381547 0.00001
NM_001142800.2(EYS):c.5329T>C (p.Leu1777=) rs1042931370 0.00001
NM_001142800.2(EYS):c.5343G>A (p.Val1781=) rs1369443470 0.00001
NM_001142800.2(EYS):c.5347G>A (p.Asp1783Asn) rs1167122731 0.00001
NM_001142800.2(EYS):c.5374G>A (p.Ala1792Thr) rs901144230 0.00001
NM_001142800.2(EYS):c.5395A>G (p.Thr1799Ala) rs144694451 0.00001
NM_001142800.2(EYS):c.5433T>C (p.Ser1811=) rs1451969697 0.00001
NM_001142800.2(EYS):c.5454A>G (p.Pro1818=) rs1198934031 0.00001
NM_001142800.2(EYS):c.5457T>C (p.Tyr1819=) rs1199375421 0.00001
NM_001142800.2(EYS):c.5487A>G (p.Lys1829=) rs373872866 0.00001
NM_001142800.2(EYS):c.5505A>C (p.Ser1835=) rs1172059380 0.00001
NM_001142800.2(EYS):c.5511G>A (p.Trp1837Ter) rs745574120 0.00001
NM_001142800.2(EYS):c.5568G>A (p.Arg1856=) rs1016126628 0.00001
NM_001142800.2(EYS):c.5591T>A (p.Leu1864His) rs888456388 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.5645-12C>A rs568674779 0.00001
NM_001142800.2(EYS):c.5651G>A (p.Ser1884Asn) rs1045693834 0.00001
NM_001142800.2(EYS):c.5675C>T (p.Ser1892Phe) rs559880561 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.5751T>C (p.Tyr1917=) rs1206206296 0.00001
NM_001142800.2(EYS):c.5755C>T (p.Leu1919Phe) rs1275377315 0.00001
NM_001142800.2(EYS):c.5784T>C (p.Asn1928=) rs1248852815 0.00001
NM_001142800.2(EYS):c.57A>G (p.Ile19Met) rs751094898 0.00001
NM_001142800.2(EYS):c.5819A>G (p.Glu1940Gly) rs913037643 0.00001
NM_001142800.2(EYS):c.5830T>A (p.Leu1944Ile) rs1232523835 0.00001
NM_001142800.2(EYS):c.5835+19T>C rs1774851205 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.584G>A (p.Ser195Asn) rs1562221183 0.00001
NM_001142800.2(EYS):c.5857G>T (p.Glu1953Ter) rs137853189 0.00001
NM_001142800.2(EYS):c.5865A>G (p.Lys1955=) rs1210464575 0.00001
NM_001142800.2(EYS):c.5893G>A (p.Val1965Met) rs967520282 0.00001
NM_001142800.2(EYS):c.5910G>A (p.Lys1970=) rs529976938 0.00001
NM_001142800.2(EYS):c.5928-7G>C rs1298069575 0.00001
NM_001142800.2(EYS):c.5928-8G>C rs1339309007 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.5955G>A (p.Glu1985=) rs1316970477 0.00001
NM_001142800.2(EYS):c.5959A>C (p.Thr1987Pro) rs1278246029 0.00001
NM_001142800.2(EYS):c.5962A>G (p.Ile1988Val) rs1561965262 0.00001
NM_001142800.2(EYS):c.5975A>G (p.Asn1992Ser) rs762475623 0.00001
NM_001142800.2(EYS):c.5993C>G (p.Ser1998Cys) rs1464245433 0.00001
NM_001142800.2(EYS):c.6003T>C (p.His2001=) rs1168554087 0.00001
NM_001142800.2(EYS):c.6004G>A (p.Val2002Ile) rs1476439486 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.6060C>A (p.Asp2020Glu) rs1427608537 0.00001
NM_001142800.2(EYS):c.6078+10T>C rs1435223614 0.00001
NM_001142800.2(EYS):c.6078+9A>G rs1172112238 0.00001
NM_001142800.2(EYS):c.6079-18T>C rs926199105 0.00001
NM_001142800.2(EYS):c.6084T>C (p.Pro2028=) rs1377136843 0.00001
NM_001142800.2(EYS):c.6104C>A (p.Thr2035Asn) rs1769478067 0.00001
NM_001142800.2(EYS):c.6173A>G (p.Tyr2058Cys) rs1486367630 0.00001
NM_001142800.2(EYS):c.6183C>T (p.Asn2061=) rs958734685 0.00001
NM_001142800.2(EYS):c.6191+1G>A rs1048032321 0.00001
NM_001142800.2(EYS):c.6191+8A>G rs1354489200 0.00001
NM_001142800.2(EYS):c.6201A>G (p.Gly2067=) rs1475370698 0.00001
NM_001142800.2(EYS):c.6222C>T (p.Ala2074=) rs1212504453 0.00001
NM_001142800.2(EYS):c.6225C>T (p.Ser2075=) rs1272738105 0.00001
NM_001142800.2(EYS):c.6279C>T (p.Val2093=) rs1433977403 0.00001
NM_001142800.2(EYS):c.630C>G (p.Tyr210Ter) rs1469481918 0.00001
NM_001142800.2(EYS):c.6316G>T (p.Asp2106Tyr) rs369266984 0.00001
NM_001142800.2(EYS):c.6348C>T (p.Ala2116=) rs1287331567 0.00001
NM_001142800.2(EYS):c.634C>T (p.Gln212Ter) rs371915861 0.00001
NM_001142800.2(EYS):c.6374C>G (p.Ser2125Ter) rs746829106 0.00001
NM_001142800.2(EYS):c.63A>G (p.Gly21=) rs1438645565 0.00001
NM_001142800.2(EYS):c.6407G>C (p.Gly2136Ala) rs1252532483 0.00001
NM_001142800.2(EYS):c.6419A>G (p.Glu2140Gly) rs1455868871 0.00001
NM_001142800.2(EYS):c.6424+10C>T rs201379237 0.00001
NM_001142800.2(EYS):c.642T>C (p.Leu214=) rs1766180254 0.00001
NM_001142800.2(EYS):c.6438C>T (p.Phe2146=) rs578167289 0.00001
NM_001142800.2(EYS):c.6446C>A (p.Ser2149Tyr) rs537922564 0.00001
NM_001142800.2(EYS):c.6453T>C (p.Asn2151=) rs1232084521 0.00001
NM_001142800.2(EYS):c.6476C>T (p.Pro2159Leu) rs1033509618 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.6486G>A (p.Lys2162=) rs1347115248 0.00001
NM_001142800.2(EYS):c.6489T>G (p.Phe2163Leu) rs1771986869 0.00001
NM_001142800.2(EYS):c.6490del (p.Val2164fs) rs1163089098 0.00001
NM_001142800.2(EYS):c.6506A>G (p.His2169Arg) rs1426659267 0.00001
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter) rs797045089 0.00001
NM_001142800.2(EYS):c.6529T>C (p.Leu2177=) rs1771984429 0.00001
NM_001142800.2(EYS):c.6563T>C (p.Ile2188Thr) rs1562190751 0.00001
NM_001142800.2(EYS):c.6570C>T (p.Tyr2190=) rs892427334 0.00001
NM_001142800.2(EYS):c.6571+12A>C rs753391429 0.00001
NM_001142800.2(EYS):c.6571+1G>A rs1193854376 0.00001
NM_001142800.2(EYS):c.6571+20C>T rs755852518 0.00001
NM_001142800.2(EYS):c.6582T>C (p.Asn2194=) rs765847813 0.00001
NM_001142800.2(EYS):c.6585T>C (p.Asn2195=) rs1436915469 0.00001
NM_001142800.2(EYS):c.6624A>C (p.Gly2208=) rs1033431714 0.00001
NM_001142800.2(EYS):c.6626G>A (p.Arg2209Lys) rs761797334 0.00001
NM_001142800.2(EYS):c.663A>T (p.Pro221=) rs1230479706 0.00001
NM_001142800.2(EYS):c.6669G>C (p.Leu2223Phe) rs1295742707 0.00001
NM_001142800.2(EYS):c.6696C>A (p.Asn2232Lys) rs946318214 0.00001
NM_001142800.2(EYS):c.6702T>C (p.Asn2234=) rs1183277671 0.00001
NM_001142800.2(EYS):c.6711C>A (p.Thr2237=) rs770826563 0.00001
NM_001142800.2(EYS):c.6714T>C (p.Pro2238=) rs1378886659 0.00001
NM_001142800.2(EYS):c.6724C>G (p.Arg2242Gly) rs990350691 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.6726-12T>C rs545960584 0.00001
NM_001142800.2(EYS):c.6735G>A (p.Thr2245=) rs776003310 0.00001
NM_001142800.2(EYS):c.6782A>G (p.Asp2261Gly) rs893275648 0.00001
NM_001142800.2(EYS):c.6801G>A (p.Gln2267=) rs535631562 0.00001
NM_001142800.2(EYS):c.6827C>T (p.Ala2276Val) rs1054721154 0.00001
NM_001142800.2(EYS):c.6830C>T (p.Ser2277Phe) rs1323615607 0.00001
NM_001142800.2(EYS):c.6831T>A (p.Ser2277=) rs1270742107 0.00001
NM_001142800.2(EYS):c.6834+15A>G rs1213902247 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.6879T>C (p.Val2293=) rs1303938517 0.00001
NM_001142800.2(EYS):c.6888T>C (p.His2296=) rs1357255596 0.00001
NM_001142800.2(EYS):c.6897A>G (p.Ala2299=) rs1371643132 0.00001
NM_001142800.2(EYS):c.690T>C (p.Asn230=) rs751296542 0.00001
NM_001142800.2(EYS):c.6911G>A (p.Gly2304Glu) rs773046364 0.00001
NM_001142800.2(EYS):c.6928C>A (p.Leu2310Ile) rs1470569799 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.6969T>C (p.Asp2323=) rs1487879752 0.00001
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter) rs1060499783 0.00001
NM_001142800.2(EYS):c.7003C>T (p.His2335Tyr) rs1343612158 0.00001
NM_001142800.2(EYS):c.7005C>T (p.His2335=) rs754317397 0.00001
NM_001142800.2(EYS):c.7011T>G (p.Pro2337=) rs1156461790 0.00001
NM_001142800.2(EYS):c.7026T>C (p.His2342=) rs1185982984 0.00001
NM_001142800.2(EYS):c.7047C>T (p.Thr2349=) rs1767253468 0.00001
NM_001142800.2(EYS):c.7048T>C (p.Cys2350Arg) rs935531910 0.00001
NM_001142800.2(EYS):c.7053C>A (p.Ile2351=) rs377036936 0.00001
NM_001142800.2(EYS):c.7056-17A>T rs1035114303 0.00001
NM_001142800.2(EYS):c.7056-8C>T rs746624126 0.00001
NM_001142800.2(EYS):c.7056-9C>T rs1362023747 0.00001
NM_001142800.2(EYS):c.7059T>G (p.Asp2353Glu) rs771265979 0.00001
NM_001142800.2(EYS):c.7062T>C (p.Asn2354=) rs1367535493 0.00001
NM_001142800.2(EYS):c.7065A>C (p.Glu2355Asp) rs749617474 0.00001
NM_001142800.2(EYS):c.709G>A (p.Glu237Lys) rs372875560 0.00001
NM_001142800.2(EYS):c.70T>C (p.Cys24Arg) rs772924320 0.00001
NM_001142800.2(EYS):c.7112A>G (p.Gln2371Arg) rs989241722 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.7188C>T (p.Cys2396=) rs1308579911 0.00001
NM_001142800.2(EYS):c.7222A>G (p.Thr2408Ala) rs1418033120 0.00001
NM_001142800.2(EYS):c.7227T>C (p.Asp2409=) rs762804865 0.00001
NM_001142800.2(EYS):c.7228+6A>G rs750245367 0.00001
NM_001142800.2(EYS):c.7228+7G>C rs1200302625 0.00001
NM_001142800.2(EYS):c.7229-5C>T rs1256025461 0.00001
NM_001142800.2(EYS):c.7247C>G (p.Pro2416Arg) rs1355664698 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.7281C>T (p.Thr2427=) rs745331821 0.00001
NM_001142800.2(EYS):c.7296T>C (p.Tyr2432=) rs1342009710 0.00001
NM_001142800.2(EYS):c.7300C>T (p.Arg2434Trp) rs1234060098 0.00001
NM_001142800.2(EYS):c.7301G>A (p.Arg2434Gln) rs1316019179 0.00001
NM_001142800.2(EYS):c.7347G>A (p.Gln2449=) rs1770906194 0.00001
NM_001142800.2(EYS):c.7348C>T (p.Leu2450=) rs1239568794 0.00001
NM_001142800.2(EYS):c.7356C>A (p.Asn2452Lys) rs566843175 0.00001
NM_001142800.2(EYS):c.7378A>G (p.Asn2460Asp) rs1358455064 0.00001
NM_001142800.2(EYS):c.7405G>A (p.Gly2469Ser) rs1326140178 0.00001
NM_001142800.2(EYS):c.7443C>T (p.Gly2481=) rs1044722026 0.00001
NM_001142800.2(EYS):c.7446G>C (p.Leu2482=) rs1562026948 0.00001
NM_001142800.2(EYS):c.7446G>T (p.Leu2482=) rs1562026948 0.00001
NM_001142800.2(EYS):c.7471T>G (p.Tyr2491Asp) rs1306301546 0.00001
NM_001142800.2(EYS):c.7557C>T (p.Phe2519=) rs1237883344 0.00001
NM_001142800.2(EYS):c.7558T>C (p.Phe2520Leu) rs527486914 0.00001
NM_001142800.2(EYS):c.7578+1G>A rs1228475082 0.00001
NM_001142800.2(EYS):c.7591A>G (p.Lys2531Glu) rs1037212478 0.00001
NM_001142800.2(EYS):c.7635T>C (p.Asn2545=) rs1161244901 0.00001
NM_001142800.2(EYS):c.7654del (p.Tyr2551_Val2552insTer) rs1064796020 0.00001
NM_001142800.2(EYS):c.76C>T (p.Arg26Trp) rs764308269 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.7723+6G>A rs773926989 0.00001
NM_001142800.2(EYS):c.7724-15T>C rs773142562 0.00001
NM_001142800.2(EYS):c.7761T>C (p.Asp2587=) rs1372433925 0.00001
NM_001142800.2(EYS):c.7785T>C (p.Asn2595=) rs1029639574 0.00001
NM_001142800.2(EYS):c.7803T>C (p.Asn2601=) rs1342639553 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.7899-5C>T rs1218048550 0.00001
NM_001142800.2(EYS):c.7899C>A (p.Tyr2633Ter) rs1197863938 0.00001
NM_001142800.2(EYS):c.78G>A (p.Arg26=) rs1766217092 0.00001
NM_001142800.2(EYS):c.7917G>C (p.Gly2639=) rs1042688038 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.7944A>G (p.Thr2648=) rs1406515203 0.00001
NM_001142800.2(EYS):c.7950T>A (p.Ser2650=) rs1293658324 0.00001
NM_001142800.2(EYS):c.7970del (p.Asp2657fs) rs1477098845 0.00001
NM_001142800.2(EYS):c.7990A>C (p.Arg2664=) rs1342358367 0.00001
NM_001142800.2(EYS):c.7995A>T (p.Gly2665=) rs1217814272 0.00001
NM_001142800.2(EYS):c.7998A>G (p.Ala2666=) rs1276184135 0.00001
NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter) rs527236076 0.00001
NM_001142800.2(EYS):c.8031T>C (p.Cys2677=) rs1306499925 0.00001
NM_001142800.2(EYS):c.8038C>A (p.Pro2680Thr) rs757929455 0.00001
NM_001142800.2(EYS):c.8081T>G (p.Ile2694Arg) rs954331122 0.00001
NM_001142800.2(EYS):c.8088T>A (p.Asp2696Glu) rs780632755 0.00001
NM_001142800.2(EYS):c.8120T>G (p.Met2707Arg) rs757841530 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.8151G>A (p.Lys2717=) rs983603381 0.00001
NM_001142800.2(EYS):c.8157T>C (p.His2719=) rs1419791498 0.00001
NM_001142800.2(EYS):c.8168del (p.Gln2723fs) rs1168101857 0.00001
NM_001142800.2(EYS):c.8205T>C (p.Tyr2735=) rs1768623410 0.00001
NM_001142800.2(EYS):c.8206G>C (p.Ala2736Pro) rs1250317776 0.00001
NM_001142800.2(EYS):c.8233+17G>A rs1301705188 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.840T>C (p.Cys280=) rs777220640 0.00001
NM_001142800.2(EYS):c.849T>G (p.Asp283Glu) rs747084936 0.00001
NM_001142800.2(EYS):c.853C>A (p.Gln285Lys) rs988163418 0.00001
NM_001142800.2(EYS):c.862+1G>T rs926930860 0.00001
NM_001142800.2(EYS):c.867A>G (p.Pro289=) rs746039939 0.00001
NM_001142800.2(EYS):c.889C>T (p.Pro297Ser) rs780788241 0.00001
NM_001142800.2(EYS):c.937A>C (p.Ser313Arg) rs759580570 0.00001
NM_001142800.2(EYS):c.939T>G (p.Ser313Arg) rs774342993 0.00001
NM_001142800.2(EYS):c.951T>C (p.Thr317=) rs993944802 0.00001
NM_001142800.2(EYS):c.954T>C (p.Tyr318=) rs769722435 0.00001
NM_001142800.2(EYS):c.961C>T (p.Pro321Ser) rs748052858 0.00001
NM_001142800.2(EYS):c.969A>G (p.Gly323=) rs1357308843 0.00001
NM_001142800.2(EYS):c.96G>A (p.Trp32Ter) rs1388177618 0.00001
NC_000006.11:g.(?_64430492)_(64431713_?)del
NC_000006.11:g.(?_64430492)_(64436593_?)dup
NC_000006.11:g.(?_64430660)_(64432714_?)del
NC_000006.11:g.(?_64451796)_(64574261_?)del
NC_000006.11:g.(?_64472344)_(64472536_?)dup
NC_000006.11:g.(?_64472344)_(64574261_?)del
NC_000006.11:g.(?_64487889)_(64488083_?)del
NC_000006.11:g.(?_64574059)_(65655827_?)dup
NC_000006.11:g.(?_64574069)_(64574261_?)del
NC_000006.11:g.(?_64574069)_(65016985_?)dup
NC_000006.11:g.(?_64694256)_(64694516_?)del
NC_000006.11:g.(?_64694256)_(64791915_?)dup
NC_000006.11:g.(?_64694256)_(65016995_?)del
NC_000006.11:g.(?_64694266)_(64694506_?)dup
NC_000006.11:g.(?_64694266)_(64791905_?)del
NC_000006.11:g.(?_64694266)_(65149255_?)dup
NC_000006.11:g.(?_64708958)_(64709086_?)del
NC_000006.11:g.(?_64776211)_(64791915_?)del
NC_000006.11:g.(?_64776221)_(64791905_?)dup
NC_000006.11:g.(?_64791729)_(64791915_?)dup
NC_000006.11:g.(?_64791739)_(64791905_?)del
NC_000006.11:g.(?_64791739)_(64940727_?)del
NC_000006.11:g.(?_64940465)_(65622656_?)dup
NC_000006.11:g.(?_64940465)_(66063530_?)del
NC_000006.11:g.(?_64940475)_(65016985_?)del
NC_000006.11:g.(?_64940475)_(65098743_?)dup
NC_000006.11:g.(?_64940475)_(65336148_?)del
NC_000006.11:g.(?_64940475)_(65336148_?)dup
NC_000006.11:g.(?_64940485)_(65336138_?)del
NC_000006.11:g.(?_65016853)_(65016985_?)dup
NC_000006.11:g.(?_65098563)_(65098753_?)del
NC_000006.11:g.(?_65098563)_(65098753_?)dup
NC_000006.11:g.(?_65098563)_(65336158_?)del
NC_000006.11:g.(?_65098563)_(65767640_?)del
NC_000006.11:g.(?_65098563)_(66417118_?)del
NC_000006.11:g.(?_65098573)_(65098743_?)dup
NC_000006.11:g.(?_65098573)_(65149255_?)del
NC_000006.11:g.(?_65098573)_(65149255_?)dup
NC_000006.11:g.(?_65098583)_(65149245_?)dup
NC_000006.11:g.(?_65146047)_(65336158_?)del
NC_000006.11:g.(?_65146057)_(65149255_?)del
NC_000006.11:g.(?_65149045)_(65336148_?)del
NC_000006.11:g.(?_65300096)_(65327446_?)dup
NC_000006.11:g.(?_65300106)_(65707606_?)del
NC_000006.11:g.(?_65301748)_(65303701_?)del
NC_000006.11:g.(?_65327291)_(65336158_?)dup
NC_000006.11:g.(?_65327301)_(65336148_?)del
NC_000006.11:g.(?_65336004)_(65336148_?)dup
NC_000006.11:g.(?_65523251)_(65532735_?)dup
NC_000006.11:g.(?_65523251)_(65612413_?)del
NC_000006.11:g.(?_65523251)_(65622656_?)del
NC_000006.11:g.(?_65523251)_(65707616_?)dup
NC_000006.11:g.(?_65523251)_(65767640_?)del
NC_000006.11:g.(?_65523261)_(65532725_?)del
NC_000006.11:g.(?_65523261)_(65655817_?)del
NC_000006.11:g.(?_65523280)_(65525433_?)del
NC_000006.11:g.(?_65531528)_(65622646_?)del
NC_000006.11:g.(?_65531528)_(66205758_?)del
NC_000006.11:g.(?_65596570)_(65622656_?)del
NC_000006.11:g.(?_65596580)_(65596745_?)del
NC_000006.11:g.(?_65611986)_(65622656_?)dup
NC_000006.11:g.(?_65611986)_(65767640_?)del
NC_000006.11:g.(?_65611996)_(65655817_?)dup
NC_000006.11:g.(?_65622357)_(65622656_?)del
NC_000006.11:g.(?_65622367)_(65655817_?)dup
NC_000006.11:g.(?_65622367)_(65767630_?)del
NC_000006.11:g.(?_65622367)_(66115270_?)del
NC_000006.11:g.(?_65622377)_(65655807_?)del
NC_000006.11:g.(?_65655666)_(65767640_?)dup
NC_000006.11:g.(?_65655676)_(65707606_?)del
NC_000006.11:g.(?_65655686)_(65655807_?)del
NC_000006.11:g.(?_65707455)_(65707616_?)dup
NC_000006.11:g.(?_65707455)_(65767640_?)del
NC_000006.11:g.(?_65707465)_(65767630_?)dup
NC_000006.11:g.(?_65707475)_(65707596_?)dup
NC_000006.11:g.(?_65767487)_(65767640_?)del
NC_000006.11:g.(?_65767487)_(65767640_?)dup
NC_000006.11:g.(?_66005736)_(66006032_?)del
NC_000006.11:g.(?_66005736)_(66094413_?)dup
NC_000006.11:g.(?_66005746)_(66042320_?)del
NC_000006.11:g.(?_66005746)_(66063520_?)dup
NC_000006.11:g.(?_66005746)_(66115270_?)del
NC_000006.11:g.(?_66005746)_(66417039_?)del
NC_000006.11:g.(?_66042207)_(66045049_?)dup
NC_000006.11:g.(?_66042207)_(66063520_?)del
NC_000006.11:g.(?_66044853)_(66115280_?)del
NC_000006.11:g.(?_66053911)_(66054090_?)del
NC_000006.11:g.(?_66053931)_(66054070_?)del
NC_000006.11:g.(?_66094259)_(66112518_?)del
NC_000006.11:g.(?_66094259)_(66205886_?)dup
NC_000006.11:g.(?_66094259)_(66417118_?)del
NC_000006.11:g.(?_66094269)_(66094403_?)dup
NC_000006.11:g.(?_66094269)_(66205758_?)del
NC_000006.11:g.(?_66112351)_(66112518_?)del
NC_000006.11:g.(?_66112351)_(66115280_?)dup
NC_000006.11:g.(?_66112351)_(66205886_?)del
NC_000006.11:g.(?_66112361)_(66115270_?)del
NC_000006.11:g.(?_66112361)_(66115270_?)dup
NC_000006.11:g.(?_66200467)_(66205886_?)dup
NC_000006.11:g.(?_66200477)_(66417039_?)del
NC_000006.11:g.(?_66200487)_(66205303_?)del
NC_000006.11:g.(?_66204536)_(66205886_?)del
NC_000006.11:g.(?_66204536)_(66205886_?)dup
NC_000006.11:g.(?_66349671)_(66349785_?)del
NC_000006.11:g.(?_66417023)_(66417118_?)del
NC_000006.11:g.(?_66417023)_(66417118_?)dup
NC_000006.12:g.(?_63864176)_(63999193_?)del
NC_000006.12:g.(?_64066328)_(64082012_?)del
NC_000006.12:g.(?_64066338)_(64082002_?)del
NC_000006.12:g.(?_64066338)_(64626245_?)del
NC_000006.12:g.(?_64230582)_(64230834_?)dup
NC_000006.12:g.(?_64230592)_(64230824_?)del
NC_000006.12:g.(?_64436164)_(65495865_?)del
NC_000006.12:g.(?_64590213)_(64626255_?)del
NC_000006.12:g.(?_64617408)_(64617543_?)del
NC_000006.12:g.(?_64813368)_(64822832_?)dup
NC_000006.12:g.(?_64813368)_(65057737_?)del
NC_000006.12:g.(?_64813368)_(65057737_?)dup
NC_000006.12:g.(?_64813378)_(64945914_?)del
NC_000006.12:g.(?_64813378)_(65057727_?)del
NC_000006.12:g.(?_64886697)_(64945914_?)del
NC_000006.12:g.(?_64886697)_(65057727_?)del
NC_000006.12:g.(?_64902103)_(64902510_?)del
NC_000006.12:g.(?_64902103)_(64945924_?)del
NC_000006.12:g.(?_64902113)_(64945914_?)del
NC_000006.12:g.(?_64902113)_(65495410_?)del
NC_000006.12:g.(?_64912474)_(64912753_?)del
NC_000006.12:g.(?_64945783)_(64945924_?)del
NC_000006.12:g.(?_64945793)_(64997703_?)del
NC_000006.12:g.(?_64997572)_(64997713_?)dup
NC_000006.12:g.(?_64997572)_(65057737_?)del
NC_000006.12:g.(?_64997572)_(65495865_?)del
NC_000006.12:g.(?_64997582)_(64997703_?)del
NC_000006.12:g.(?_64997582)_(65057727_?)del
NC_000006.12:g.(?_65295853)_(65296129_?)dup
NC_000006.12:g.(?_65295853)_(65335156_?)del
NC_000006.12:g.(?_65295853)_(65384510_?)del
NC_000006.12:g.(?_65295863)_(65304939_?)del
NC_000006.12:g.(?_65332314)_(65335156_?)del
NC_000006.12:g.(?_65332314)_(65353627_?)dup
NC_000006.12:g.(?_65384376)_(65384510_?)del
NC_000006.12:g.(?_65384386)_(65405367_?)dup
NC_000006.12:g.(?_65384386)_(65495410_?)del
NC_000006.12:g.(?_65384386)_(65495410_?)dup
NC_000006.12:g.(?_65402468)_(65495865_?)del
NC_000006.12:g.(?_65490594)_(65495410_?)dup
NC_000006.12:g.65490708del rs762794153
NM_001142800.2(EYS):c.-111C>T
NM_001142800.2(EYS):c.-135T>G
NM_001142800.2(EYS):c.-148A>C rs532884833
NM_001142800.2(EYS):c.-156A>G rs1766228932
NM_001142800.2(EYS):c.-168C>G
NM_001142800.2(EYS):c.-176T>C
NM_001142800.2(EYS):c.-189ACA[1] rs2127272237
NM_001142800.2(EYS):c.-198A>G
NM_001142800.2(EYS):c.-201del
NM_001142800.2(EYS):c.-211CA[1] rs2127272498
NM_001142800.2(EYS):c.-219A>G
NM_001142800.2(EYS):c.-252G>T
NM_001142800.2(EYS):c.-253T>A rs1285063212
NM_001142800.2(EYS):c.-262T>A
NM_001142800.2(EYS):c.-269A>G
NM_001142800.2(EYS):c.-270T>G
NM_001142800.2(EYS):c.-271del
NM_001142800.2(EYS):c.-273C>G rs1766240592
NM_001142800.2(EYS):c.-27T>A rs769133109
NM_001142800.2(EYS):c.-285A>C
NM_001142800.2(EYS):c.-291C>A rs1766241156
NM_001142800.2(EYS):c.-299T>C rs541087846
NM_001142800.2(EYS):c.-320A>C rs969388354
NM_001142800.2(EYS):c.-337T>C
NM_001142800.2(EYS):c.-342T>C rs557146196
NM_001142800.2(EYS):c.-347A>C
NM_001142800.2(EYS):c.-350G>A rs886061687
NM_001142800.2(EYS):c.-350G>T rs886061687
NM_001142800.2(EYS):c.-401C>A rs1767218301
NM_001142800.2(EYS):c.-404G>T
NM_001142800.2(EYS):c.-407C>G rs137924872
NM_001142800.2(EYS):c.-407C>T rs137924872
NM_001142800.2(EYS):c.-424del
NM_001142800.2(EYS):c.-430_-428del rs2149812938
NM_001142800.2(EYS):c.-432T>G rs2149812941
NM_001142800.2(EYS):c.-437C>T rs1767219359
NM_001142800.2(EYS):c.-441G>T
NM_001142800.2(EYS):c.-447C>T
NM_001142800.2(EYS):c.-450G>C rs2149856985
NM_001142800.2(EYS):c.-453G>T rs1769909552
NM_001142800.2(EYS):c.-460G>T
NM_001142800.2(EYS):c.-490A>G
NM_001142800.2(EYS):c.-497C>T rs184368442
NM_001142800.2(EYS):c.-503A>G rs1769911484
NM_001142800.2(EYS):c.-532A>C rs1769913208
NM_001142800.2(EYS):c.-67G>A
NM_001142800.2(EYS):c.-82T>C rs1766226162
NM_001142800.2(EYS):c.-90_-85del
NM_001142800.2(EYS):c.1016T>C (p.Val339Ala)
NM_001142800.2(EYS):c.1017A>C (p.Val339=) rs1265382931
NM_001142800.2(EYS):c.1017A>G (p.Val339=) rs1265382931
NM_001142800.2(EYS):c.1018C>T (p.Pro340Ser) rs1766677062
NM_001142800.2(EYS):c.1020A>G (p.Pro340=) rs774480980
NM_001142800.2(EYS):c.1029T>C (p.Asn343=) rs531020329
NM_001142800.2(EYS):c.102A>G (p.Pro34=)
NM_001142800.2(EYS):c.1030G>C (p.Gly344Arg)
NM_001142800.2(EYS):c.1035T>C (p.Thr345=)
NM_001142800.2(EYS):c.1038C>T (p.Asp346=)
NM_001142800.2(EYS):c.103C>T (p.Gln35Ter) rs749410700
NM_001142800.2(EYS):c.1050A>T (p.Ile350=) rs373412160
NM_001142800.2(EYS):c.1052C>A (p.Ser351Ter)
NM_001142800.2(EYS):c.1055A>C (p.Asn352Thr)
NM_001142800.2(EYS):c.1056+13C>A
NM_001142800.2(EYS):c.1056+13C>T
NM_001142800.2(EYS):c.1056+17C>T
NM_001142800.2(EYS):c.1056+2T>C rs2150365452
NM_001142800.2(EYS):c.1056+8T>C
NM_001142800.2(EYS):c.1057-13T>C
NM_001142800.2(EYS):c.1057-13del rs753320968
NM_001142800.2(EYS):c.1057-18T>G
NM_001142800.2(EYS):c.1057-19dup rs753320968
NM_001142800.2(EYS):c.1057-20A>C
NM_001142800.2(EYS):c.1057-20A>G
NM_001142800.2(EYS):c.1057-20del
NM_001142800.2(EYS):c.1057-2del
NM_001142800.2(EYS):c.105del (p.Gln35fs) rs1175908615
NM_001142800.2(EYS):c.1066T>G (p.Cys356Gly) rs2150363870
NM_001142800.2(EYS):c.1068C>A (p.Cys356Ter) rs1766556883
NM_001142800.2(EYS):c.1068dup (p.Ile357fs)
NM_001142800.2(EYS):c.1069A>C (p.Ile357Leu) rs1391157136
NM_001142800.2(EYS):c.1070T>G (p.Ile357Ser) rs1766556502
NM_001142800.2(EYS):c.1078C>T (p.Pro360Ser)
NM_001142800.2(EYS):c.1080A>C (p.Pro360=)
NM_001142800.2(EYS):c.1081A>G (p.Ile361Val)
NM_001142800.2(EYS):c.1083_1108del (p.Phe362fs)
NM_001142800.2(EYS):c.1086T>C (p.Phe362=) rs1766555738
NM_001142800.2(EYS):c.108C>A (p.Pro36=) rs1014843963
NM_001142800.2(EYS):c.108C>T (p.Pro36=)
NM_001142800.2(EYS):c.1093T>C (p.Leu365=)
NM_001142800.2(EYS):c.10A>T (p.Lys4Ter)
NM_001142800.2(EYS):c.1110T>C (p.Ile370=) rs752062916
NM_001142800.2(EYS):c.1112A>T (p.Gln371Leu)
NM_001142800.2(EYS):c.1113A>G (p.Gln371=)
NM_001142800.2(EYS):c.1116A>T (p.Thr372=) rs1255173204
NM_001142800.2(EYS):c.1117T>C (p.Ser373Pro)
NM_001142800.2(EYS):c.1120T>C (p.Cys374Arg)
NM_001142800.2(EYS):c.1126T>A (p.Ser376Thr) rs2150363809
NM_001142800.2(EYS):c.1129T>C (p.Phe377Leu)
NM_001142800.2(EYS):c.1134T>C (p.Pro378=) rs2150363805
NM_001142800.2(EYS):c.113C>G (p.Ser38Ter)
NM_001142800.2(EYS):c.1145A>G (p.Asn382Ser) rs144935927
NM_001142800.2(EYS):c.1146_1147inv (p.Ala383Thr)
NM_001142800.2(EYS):c.114A>G (p.Ser38=)
NM_001142800.2(EYS):c.1152A>G (p.Thr384=) rs2150363776
NM_001142800.2(EYS):c.1164T>C (p.Cys388=)
NM_001142800.2(EYS):c.1170A>G (p.Lys390=) rs2150363751
NM_001142800.2(EYS):c.1179T>C (p.Pro393=) rs2150363736
NM_001142800.2(EYS):c.1182C>A (p.Cys394Ter)
NM_001142800.2(EYS):c.1184+17G>C
NM_001142800.2(EYS):c.1184+18T>C
NM_001142800.2(EYS):c.1184+1G>A rs2150363733
NM_001142800.2(EYS):c.1184+2T>C
NM_001142800.2(EYS):c.1184+8T>A
NM_001142800.2(EYS):c.1185-10G>A rs1562140886
NM_001142800.2(EYS):c.1185-13G>T
NM_001142800.2(EYS):c.1185-15C>T
NM_001142800.2(EYS):c.1185-18A>G
NM_001142800.2(EYS):c.1185-3C>T rs1562140876
NM_001142800.2(EYS):c.1185-5T>C
NM_001142800.2(EYS):c.1185-6T>G rs565046666
NM_001142800.2(EYS):c.1188T>C (p.Cys396=) rs2150351983
NM_001142800.2(EYS):c.1189A>G (p.Ile397Val) rs1365596246
NM_001142800.2(EYS):c.1193C>G (p.Ser398Ter) rs866804139
NM_001142800.2(EYS):c.1194A>C (p.Ser398=)
NM_001142800.2(EYS):c.1206A>G (p.Glu402=)
NM_001142800.2(EYS):c.120G>A (p.Val40=)
NM_001142800.2(EYS):c.1211del (p.Asn404fs) rs764163418
NM_001142800.2(EYS):c.1211dup (p.Asn404fs) rs764163418
NM_001142800.2(EYS):c.1224A>G (p.Ala408=) rs2150351931
NM_001142800.2(EYS):c.1234del (p.Cys412fs) rs1765726534
NM_001142800.2(EYS):c.1236T>C (p.Cys412=) rs2150351909
NM_001142800.2(EYS):c.123A>G (p.Val41=) rs1370120169
NM_001142800.2(EYS):c.1252A>C (p.Asn418His) rs369388425
NM_001142800.2(EYS):c.1258C>T (p.Leu420=)
NM_001142800.2(EYS):c.1262A>G (p.Asn421Ser)
NM_001142800.2(EYS):c.1269A>G (p.Glu423=) rs1264886780
NM_001142800.2(EYS):c.126T>C (p.Asn42=) rs781187059
NM_001142800.2(EYS):c.1272G>A (p.Trp424Ter)
NM_001142800.2(EYS):c.1272dup (p.Cys425fs) rs2150351865
NM_001142800.2(EYS):c.1275T>C (p.Cys425=) rs778123173
NM_001142800.2(EYS):c.1293A>G (p.Arg431=)
NM_001142800.2(EYS):c.1298A>C (p.Lys433Thr) rs1361667383
NM_001142800.2(EYS):c.1299+11T>A
NM_001142800.2(EYS):c.1299+16C>T rs2150351815
NM_001142800.2(EYS):c.1299+17A>G
NM_001142800.2(EYS):c.1299+19G>C
NM_001142800.2(EYS):c.1299+1G>T rs199830721
NM_001142800.2(EYS):c.1299+2T>A rs2150351826
NM_001142800.2(EYS):c.1299+5_1299+8del rs1562140604
NM_001142800.2(EYS):c.12A>G (p.Lys4=) rs2127272013
NM_001142800.2(EYS):c.1300-10C>G
NM_001142800.2(EYS):c.1300-10C>T
NM_001142800.2(EYS):c.1300-19C>T
NM_001142800.2(EYS):c.1300-1G>A
NM_001142800.2(EYS):c.1300-20dup
NM_001142800.2(EYS):c.1300-3_1300-2delinsTT rs2150327364
NM_001142800.2(EYS):c.1300T>C (p.Tyr434His) rs1764369029
NM_001142800.2(EYS):c.1300dup (p.Tyr434fs)
NM_001142800.2(EYS):c.1302T>C (p.Tyr434=)
NM_001142800.2(EYS):c.1303G>C (p.Val435Leu) rs748235223
NM_001142800.2(EYS):c.1305A>G (p.Val435=) rs2150327346
NM_001142800.2(EYS):c.1307_1310del (p.Cys436fs)
NM_001142800.2(EYS):c.1310T>A (p.Ile437Asn) rs912121912
NM_001142800.2(EYS):c.1322C>G (p.Thr441Arg) rs747237723
NM_001142800.2(EYS):c.1323A>G (p.Thr441=)
NM_001142800.2(EYS):c.1323A>T (p.Thr441=)
NM_001142800.2(EYS):c.1325A>T (p.Lys442Ile) rs758215773
NM_001142800.2(EYS):c.1328dup (p.Asn443fs) rs1582176424
NM_001142800.2(EYS):c.1329T>C (p.Asn443=) rs1562116791
NM_001142800.2(EYS):c.1330C>T (p.Pro444Ser) rs1764367580
NM_001142800.2(EYS):c.1335T>A (p.Cys445Ter)
NM_001142800.2(EYS):c.1335T>C (p.Cys445=) rs2150327300
NM_001142800.2(EYS):c.133C>T (p.Leu45=) rs45611538
NM_001142800.2(EYS):c.1344G>A (p.Leu448=) rs2150327287
NM_001142800.2(EYS):c.1353T>C (p.Val451=)
NM_001142800.2(EYS):c.1354del (p.Tyr452fs)
NM_001142800.2(EYS):c.1356C>G (p.Tyr452Ter)
NM_001142800.2(EYS):c.1356C>T (p.Tyr452=) rs1453136762
NM_001142800.2(EYS):c.1358_1359del (p.Leu453fs) rs1450999049
NM_001142800.2(EYS):c.1359A>C (p.Leu453=)
NM_001142800.2(EYS):c.1377C>T (p.Cys459=)
NM_001142800.2(EYS):c.1380C>T (p.Tyr460=) rs2150327246
NM_001142800.2(EYS):c.1387_1388insA (p.Val463fs) rs2150327232
NM_001142800.2(EYS):c.138A>C (p.Thr46=) rs983501587
NM_001142800.2(EYS):c.138A>G (p.Thr46=)
NM_001142800.2(EYS):c.1392C>T (p.Thr464=)
NM_001142800.2(EYS):c.1395C>T (p.Phe465=)
NM_001142800.2(EYS):c.1397A>T (p.His466Leu)
NM_001142800.2(EYS):c.1398T>C (p.His466=) rs770319684
NM_001142800.2(EYS):c.1400del (p.Gly467fs) rs770403975
NM_001142800.2(EYS):c.1404T>C (p.Ile468=)
NM_001142800.2(EYS):c.1407C>T (p.Cys469=)
NM_001142800.2(EYS):c.1417G>T (p.Gly473Cys)
NM_001142800.2(EYS):c.1418G>T (p.Gly473Val) rs540611114
NM_001142800.2(EYS):c.1422T>C (p.Pro474=) rs2150327186
NM_001142800.2(EYS):c.1426C>T (p.Gln476Ter) rs1345460401
NM_001142800.2(EYS):c.1428A>G (p.Gln476=)
NM_001142800.2(EYS):c.1429T>C (p.Phe477Leu)
NM_001142800.2(EYS):c.1432G>A (p.Glu478Lys) rs1403117224
NM_001142800.2(EYS):c.1437T>C (p.Tyr479=)
NM_001142800.2(EYS):c.1442G>A (p.Trp481Ter)
NM_001142800.2(EYS):c.1443G>A (p.Trp481Ter)
NM_001142800.2(EYS):c.1449G>A (p.Leu483=)
NM_001142800.2(EYS):c.1459+11T>C
NM_001142800.2(EYS):c.1459+12A>G
NM_001142800.2(EYS):c.1459+18T>C
NM_001142800.2(EYS):c.1459+4A>G
NM_001142800.2(EYS):c.1459+7A>G rs755713237
NM_001142800.2(EYS):c.1460-10T>G rs1770309588
NM_001142800.2(EYS):c.1460-12T>C
NM_001142800.2(EYS):c.1460-12T>G rs765588397
NM_001142800.2(EYS):c.1460-13T>C
NM_001142800.2(EYS):c.1460-16C>G
NM_001142800.2(EYS):c.1460-19T>G
NM_001142800.2(EYS):c.1460-19dup
NM_001142800.2(EYS):c.1460-1G>A
NM_001142800.2(EYS):c.1460-5T>C rs1000894278
NM_001142800.2(EYS):c.1460-5del rs771064426
NM_001142800.2(EYS):c.1460-5dup rs771064426
NM_001142800.2(EYS):c.1460-6_1460-5del rs771064426
NM_001142800.2(EYS):c.1460-8T>C
NM_001142800.2(EYS):c.1460-9T>G rs1355461460
NM_001142800.2(EYS):c.1464T>C (p.Ser488=)
NM_001142800.2(EYS):c.146T>C (p.Ile49Thr) rs779640516
NM_001142800.2(EYS):c.1471G>A (p.Glu491Lys)
NM_001142800.2(EYS):c.1471G>C (p.Glu491Gln) rs151187049
NM_001142800.2(EYS):c.1472A>C (p.Glu491Ala) rs759752693
NM_001142800.2(EYS):c.1479C>A (p.Cys493Ter) rs774464019
NM_001142800.2(EYS):c.147C>T (p.Ile49=)
NM_001142800.2(EYS):c.1480C>T (p.Gln494Ter) rs1207818522
NM_001142800.2(EYS):c.1486G>A (p.Val496Ile)
NM_001142800.2(EYS):c.1486del (p.Val496fs) rs2150320007
NM_001142800.2(EYS):c.1492G>A (p.Asp498Asn)
NM_001142800.2(EYS):c.1497C>T (p.Ala499=) rs1300237940
NM_001142800.2(EYS):c.1500T>C (p.Tyr500=)
NM_001142800.2(EYS):c.1501T>G (p.Phe501Val)
NM_001142800.2(EYS):c.1501_1502del (p.Phe501fs) rs2150319960
NM_001142800.2(EYS):c.1509G>C (p.Leu503=)
NM_001142800.2(EYS):c.1519T>C (p.Cys507Arg) rs2150319928
NM_001142800.2(EYS):c.1521C>A (p.Cys507Ter) rs1416709406
NM_001142800.2(EYS):c.1521C>T (p.Cys507=)
NM_001142800.2(EYS):c.1524T>C (p.Thr508=) rs2150319913
NM_001142800.2(EYS):c.1530T>C (p.Asp510=)
NM_001142800.2(EYS):c.1536C>T (p.Thr512=) rs2150319907
NM_001142800.2(EYS):c.1536del (p.Tyr513fs) rs2150319909
NM_001142800.2(EYS):c.1538A>G (p.Tyr513Cys)
NM_001142800.2(EYS):c.1546G>A (p.Asp516Asn)
NM_001142800.2(EYS):c.1546G>T (p.Asp516Tyr)
NM_001142800.2(EYS):c.1549C>T (p.Pro517Ser) rs763331925
NM_001142800.2(EYS):c.154G>C (p.Asp52His)
NM_001142800.2(EYS):c.1551T>A (p.Pro517=)
NM_001142800.2(EYS):c.1558AAT[1] (p.Asn521del) rs747069281
NM_001142800.2(EYS):c.1560T>C (p.Asn520=) rs769726523
NM_001142800.2(EYS):c.1566T>C (p.Ser522=) rs2150319863
NM_001142800.2(EYS):c.1569A>T (p.Ser523=)
NM_001142800.2(EYS):c.1575G>A (p.Trp525Ter)
NM_001142800.2(EYS):c.1578C>G (p.Phe526Leu) rs1770300416
NM_001142800.2(EYS):c.1584dup (p.Glu529Ter) rs1770299906
NM_001142800.2(EYS):c.1587A>G (p.Glu529=)
NM_001142800.2(EYS):c.1593A>G (p.Thr531=)
NM_001142800.2(EYS):c.1599+12T>G
NM_001142800.2(EYS):c.1599+17T>C
NM_001142800.2(EYS):c.1599+18A>T
NM_001142800.2(EYS):c.1599+1G>T rs2150319815
NM_001142800.2(EYS):c.1599+2T>A
NM_001142800.2(EYS):c.1599+2T>G
NM_001142800.2(EYS):c.1599+7T>A
NM_001142800.2(EYS):c.1599+9A>C rs1359408400
NM_001142800.2(EYS):c.159C>T (p.Phe53=) rs1766211185
NM_001142800.2(EYS):c.1600-15del
NM_001142800.2(EYS):c.1600-17T>G
NM_001142800.2(EYS):c.1600-19A>G rs1769940164
NM_001142800.2(EYS):c.1600-4A>G rs1582153772
NM_001142800.2(EYS):c.1600-5T>C rs1425201793
NM_001142800.2(EYS):c.1600-5T>G
NM_001142800.2(EYS):c.1600-9T>C
NM_001142800.2(EYS):c.1603del (p.Cys535fs) rs2150313808
NM_001142800.2(EYS):c.1606G>A (p.Ala536Thr) rs2150313803
NM_001142800.2(EYS):c.160T>A (p.Tyr54Asn)
NM_001142800.2(EYS):c.160T>C (p.Tyr54His) rs1394979892
NM_001142800.2(EYS):c.1613G>T (p.Gly538Val) rs530200433
NM_001142800.2(EYS):c.1622G>A (p.Cys541Tyr)
NM_001142800.2(EYS):c.1624T>C (p.Leu542=)
NM_001142800.2(EYS):c.1626G>A (p.Leu542=) rs2150313774
NM_001142800.2(EYS):c.1632A>G (p.Glu544=)
NM_001142800.2(EYS):c.1637_1640del (p.Asp546fs) rs2150313758
NM_001142800.2(EYS):c.1639A>G (p.Ser547Gly) rs1769937284
NM_001142800.2(EYS):c.1641_1644del (p.Ser547fs) rs752504462
NM_001142800.2(EYS):c.1645G>T (p.Glu549Ter)
NM_001142800.2(EYS):c.1650T>C (p.Tyr550=)
NM_001142800.2(EYS):c.1650T>G (p.Tyr550Ter) rs1769936722
NM_001142800.2(EYS):c.1651C>T (p.Arg551Trp)
NM_001142800.2(EYS):c.1653G>A (p.Arg551=)
NM_001142800.2(EYS):c.1659A>G (p.Leu553=)
NM_001142800.2(EYS):c.1675G>A (p.Ala559Thr) rs1769934918
NM_001142800.2(EYS):c.1684A>G (p.Met562Val) rs1769934049
NM_001142800.2(EYS):c.1689T>C (p.Tyr563=) rs2150313684
NM_001142800.2(EYS):c.1698T>C (p.Asn566=) rs1156347961
NM_001142800.2(EYS):c.1700C>T (p.Thr567Ile)
NM_001142800.2(EYS):c.1702A>G (p.Thr568Ala)
NM_001142800.2(EYS):c.1704T>A (p.Thr568=)
NM_001142800.2(EYS):c.1704T>C (p.Thr568=) rs767426811
NM_001142800.2(EYS):c.1705G>C (p.Asp569His) rs1582153504
NM_001142800.2(EYS):c.1708_1766+12del
NM_001142800.2(EYS):c.170G>A (p.Cys57Tyr) rs1435232958
NM_001142800.2(EYS):c.1711_1712delinsAG (p.Gln571Arg) rs2150313643
NM_001142800.2(EYS):c.1711_1712inv (p.Gln571Ter)
NM_001142800.2(EYS):c.1720G>T (p.Glu574Ter)
NM_001142800.2(EYS):c.1722G>A (p.Glu574=)
NM_001142800.2(EYS):c.1726C>A (p.Gln576Lys) rs1769931367
NM_001142800.2(EYS):c.1730A>G (p.His577Arg) rs1240852149
NM_001142800.2(EYS):c.1731T>C (p.His577=) rs1582153415
NM_001142800.2(EYS):c.173G>A (p.Trp58Ter) rs2127271728
NM_001142800.2(EYS):c.1742G>A (p.Cys581Tyr) rs2150313605
NM_001142800.2(EYS):c.1747_1748del (p.Lys582_Asp583insTer)
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.1752A>G (p.Glu584=)
NM_001142800.2(EYS):c.175T>G (p.Phe59Val)
NM_001142800.2(EYS):c.1762C>A (p.Pro588Thr)
NM_001142800.2(EYS):c.1766+11A>C
NM_001142800.2(EYS):c.1766+15T>A
NM_001142800.2(EYS):c.1766+19A>C
NM_001142800.2(EYS):c.1766+1G>A
NM_001142800.2(EYS):c.1766+8T>A
NM_001142800.2(EYS):c.1767-7_1767-6del
NM_001142800.2(EYS):c.1767-9G>A
NM_001142800.2(EYS):c.1767-9G>C
NM_001142800.2(EYS):c.1779T>C (p.Ser593=)
NM_001142800.2(EYS):c.1786T>C (p.Tyr596His) rs1409350172
NM_001142800.2(EYS):c.1789A>G (p.Ile597Val)
NM_001142800.2(EYS):c.1790T>C (p.Ile597Thr) rs1481056736
NM_001142800.2(EYS):c.1793G>C (p.Gly598Ala)
NM_001142800.2(EYS):c.1793_1800dup (p.Cys601fs)
NM_001142800.2(EYS):c.1794C>A (p.Gly598=)
NM_001142800.2(EYS):c.1794C>T (p.Gly598=)
NM_001142800.2(EYS):c.179T>G (p.Leu60Trp)
NM_001142800.2(EYS):c.179dup (p.Leu60fs)
NM_001142800.2(EYS):c.1800G>T (p.Leu600Phe) rs794727056
NM_001142800.2(EYS):c.1802_1805del (p.Cys601fs)
NM_001142800.2(EYS):c.1803T>A (p.Cys601Ter)
NM_001142800.2(EYS):c.1809C>G (p.Val603=)
NM_001142800.2(EYS):c.1821T>C (p.Tyr607=) rs768943174
NM_001142800.2(EYS):c.1824C>T (p.Cys608=)
NM_001142800.2(EYS):c.1824del (p.Cys608_Leu609insTer)
NM_001142800.2(EYS):c.1836C>T (p.His612=)
NM_001142800.2(EYS):c.1838G>A (p.Ser613Asn)
NM_001142800.2(EYS):c.1845del (p.Val616fs)
NM_001142800.2(EYS):c.1856T>A (p.Leu619His)
NM_001142800.2(EYS):c.1857C>T (p.Leu619=) rs2150286339
NM_001142800.2(EYS):c.1863G>T (p.Leu621=)
NM_001142800.2(EYS):c.1866C>A (p.Ala622=)
NM_001142800.2(EYS):c.1866C>G (p.Ala622=) rs1291613335
NM_001142800.2(EYS):c.1866C>T (p.Ala622=) rs1291613335
NM_001142800.2(EYS):c.1872G>T (p.Ser624=) rs148411571
NM_001142800.2(EYS):c.1875C>T (p.His625=) rs1768653710
NM_001142800.2(EYS):c.1877A>G (p.Asn626Ser) rs2150286322
NM_001142800.2(EYS):c.1878T>C (p.Asn626=)
NM_001142800.2(EYS):c.1888A>T (p.Ser630Cys)
NM_001142800.2(EYS):c.1893T>C (p.Gly631=)
NM_001142800.2(EYS):c.1894C>T (p.Leu632=)
NM_001142800.2(EYS):c.189C>T (p.Asn63=)
NM_001142800.2(EYS):c.189_195del (p.Asn63fs)
NM_001142800.2(EYS):c.1902A>G (p.Arg634=) rs1768652347
NM_001142800.2(EYS):c.1903T>C (p.Tyr635His) rs1386425607
NM_001142800.2(EYS):c.1905T>C (p.Tyr635=) rs2150286298
NM_001142800.2(EYS):c.1910_1913del (p.Arg637fs) rs2150286291
NM_001142800.2(EYS):c.1914C>T (p.Asn638=)
NM_001142800.2(EYS):c.1915A>T (p.Ile639Phe) rs2150286286
NM_001142800.2(EYS):c.1918T>C (p.Cys640Arg) rs1768651662
NM_001142800.2(EYS):c.1923G>A (p.Glu641=)
NM_001142800.2(EYS):c.1931C>T (p.Thr644Ile)
NM_001142800.2(EYS):c.1933G>A (p.Glu645Lys) rs2150286271
NM_001142800.2(EYS):c.1937A>C (p.Asp646Ala)
NM_001142800.2(EYS):c.1937A>G (p.Asp646Gly)
NM_001142800.2(EYS):c.193A>G (p.Lys65Glu)
NM_001142800.2(EYS):c.1943A>G (p.Lys648Arg)
NM_001142800.2(EYS):c.1947T>A (p.Ser649=) rs1582111152
NM_001142800.2(EYS):c.1948G>A (p.Ala650Thr)
NM_001142800.2(EYS):c.1949C>T (p.Ala650Val)
NM_001142800.2(EYS):c.1950G>C (p.Ala650=)
NM_001142800.2(EYS):c.1953C>A (p.Ser651=) rs2150286247
NM_001142800.2(EYS):c.1953C>T (p.Ser651=)
NM_001142800.2(EYS):c.1961dup (p.Asn654fs) rs749103801
NM_001142800.2(EYS):c.1963G>T (p.Gly655Ter)
NM_001142800.2(EYS):c.1966A>G (p.Thr656Ala)
NM_001142800.2(EYS):c.1967C>T (p.Thr656Ile)
NM_001142800.2(EYS):c.1968A>G (p.Thr656=)
NM_001142800.2(EYS):c.1974T>C (p.Ser658=) rs1768648758
NM_001142800.2(EYS):c.1977A>C (p.Thr659=) rs2150286230
NM_001142800.2(EYS):c.1983A>G (p.Leu661=)
NM_001142800.2(EYS):c.1984A>C (p.Arg662=)
NM_001142800.2(EYS):c.1989A>C (p.Gly663=) rs2150286220
NM_001142800.2(EYS):c.19G>A (p.Val7Ile)
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.2004G>C (p.Lys668Asn)
NM_001142800.2(EYS):c.2006G>T (p.Cys669Phe)
NM_001142800.2(EYS):c.2009T>A (p.Val670Asp)
NM_001142800.2(EYS):c.2021_2023+1dup rs2150286198
NM_001142800.2(EYS):c.2023+10T>C
NM_001142800.2(EYS):c.2023+10_2023+26del
NM_001142800.2(EYS):c.2023+14_2023+15dup rs35045551
NM_001142800.2(EYS):c.2023+15del rs35045551
NM_001142800.2(EYS):c.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.2023+7_2023+8insG rs2150286189
NM_001142800.2(EYS):c.2023+9T>A rs1423346150
NM_001142800.2(EYS):c.2023+9T>G rs1423346150
NM_001142800.2(EYS):c.2023+9_2023+10insA rs2150286179
NM_001142800.2(EYS):c.2024-13C>A
NM_001142800.2(EYS):c.2024-13C>T
NM_001142800.2(EYS):c.2024-13del rs761134985
NM_001142800.2(EYS):c.2024-14_2024-13insTT rs142590049
NM_001142800.2(EYS):c.2024-15del rs202085379
NM_001142800.2(EYS):c.2024-15dup rs202085379
NM_001142800.2(EYS):c.2024-1G>C
NM_001142800.2(EYS):c.2024-20T>C
NM_001142800.2(EYS):c.2024-2del rs2150157701
NM_001142800.2(EYS):c.2024-6C>T
NM_001142800.2(EYS):c.2028G>T (p.Thr676=) rs758722034
NM_001142800.2(EYS):c.2037A>G (p.Glu679=)
NM_001142800.2(EYS):c.2048A>G (p.Asp683Gly)
NM_001142800.2(EYS):c.204T>C (p.Thr68=) rs2127271686
NM_001142800.2(EYS):c.2052G>A (p.Glu684=)
NM_001142800.2(EYS):c.2055T>A (p.Cys685Ter) rs372354156
NM_001142800.2(EYS):c.2067C>T (p.Pro689=)
NM_001142800.2(EYS):c.2068del (p.Cys690fs)
NM_001142800.2(EYS):c.2088C>T (p.Cys696=)
NM_001142800.2(EYS):c.2098C>G (p.Pro700Ala)
NM_001142800.2(EYS):c.2102G>T (p.Gly701Val) rs1027731148
NM_001142800.2(EYS):c.2103T>A (p.Gly701=)
NM_001142800.2(EYS):c.2109C>G (p.Tyr703Ter) rs377090818
NM_001142800.2(EYS):c.2124G>A (p.Val708=) rs2150157641
NM_001142800.2(EYS):c.2130A>G (p.Pro710=)
NM_001142800.2(EYS):c.2133_2134insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCGTCGGCCTCCCTAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT (p.Lys712delinsPhePhePhePhePhePheXaaXaaXaaXaaTer)
NM_001142800.2(EYS):c.2133del (p.Phe711fs)
NM_001142800.2(EYS):c.2134A>G (p.Lys712Glu)
NM_001142800.2(EYS):c.2137+10A>G
NM_001142800.2(EYS):c.2137+13A>G
NM_001142800.2(EYS):c.2137+15G>A
NM_001142800.2(EYS):c.2137+15G>C
NM_001142800.2(EYS):c.2137+17G>C
NM_001142800.2(EYS):c.2137+18A>C
NM_001142800.2(EYS):c.2137+20A>G rs2150157620
NM_001142800.2(EYS):c.2137+2T>C rs1483428079
NM_001142800.2(EYS):c.2138-10T>C rs772576838
NM_001142800.2(EYS):c.2138-13C>A
NM_001142800.2(EYS):c.2138-14T>C
NM_001142800.2(EYS):c.2138-20_2138-16del
NM_001142800.2(EYS):c.2138-4C>G rs2150125933
NM_001142800.2(EYS):c.2138-8G>A rs2150125941
NM_001142800.2(EYS):c.2138T>C (p.Val713Ala) rs1771314677
NM_001142800.2(EYS):c.2139G>T (p.Val713=)
NM_001142800.2(EYS):c.2140G>A (p.Val714Ile) rs1771314601
NM_001142800.2(EYS):c.214C>G (p.Gln72Glu)
NM_001142800.2(EYS):c.2154C>A (p.Ser718=)
NM_001142800.2(EYS):c.2159T>A (p.Leu720Ter)
NM_001142800.2(EYS):c.2163C>T (p.Cys721=) rs1485762557
NM_001142800.2(EYS):c.216del (p.Ala73fs) rs1459031771
NM_001142800.2(EYS):c.2174_2175del (p.Tyr725fs)
NM_001142800.2(EYS):c.2175T>C (p.Tyr725=)
NM_001142800.2(EYS):c.2181G>T (p.Gly727=)
NM_001142800.2(EYS):c.2189G>A (p.Cys730Tyr) rs1240334331
NM_001142800.2(EYS):c.2193A>G (p.Glu731=) rs2150125905
NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter) rs794727120
NM_001142800.2(EYS):c.2197G>C (p.Asp733His) rs904604158
NM_001142800.2(EYS):c.2206G>A (p.Asp736Asn)
NM_001142800.2(EYS):c.2217G>T (p.Leu739=)
NM_001142800.2(EYS):c.2227G>A (p.Glu743Lys) rs757689268
NM_001142800.2(EYS):c.2235T>C (p.Asn745=) rs2150125871
NM_001142800.2(EYS):c.2241C>G (p.Thr747=) rs1771310065
NM_001142800.2(EYS):c.2241C>T (p.Thr747=) rs1771310065
NM_001142800.2(EYS):c.224C>G (p.Pro75Arg)
NM_001142800.2(EYS):c.2259+10C>G
NM_001142800.2(EYS):c.2259+12C>A
NM_001142800.2(EYS):c.2259+14G>C
NM_001142800.2(EYS):c.2259+1G>C rs752736741
NM_001142800.2(EYS):c.2259+1G>T
NM_001142800.2(EYS):c.2259+8T>A rs2150125850
NM_001142800.2(EYS):c.225C>G (p.Pro75=)
NM_001142800.2(EYS):c.2260-10A>G
NM_001142800.2(EYS):c.2260-12A>T
NM_001142800.2(EYS):c.2260-15T>G
NM_001142800.2(EYS):c.2260-16T>G rs2150096149
NM_001142800.2(EYS):c.2260-1G>T
NM_001142800.2(EYS):c.2260-1_2263delinsCAC
NM_001142800.2(EYS):c.2260-20A>G
NM_001142800.2(EYS):c.2260-23TA[2]
NM_001142800.2(EYS):c.2260-3T>G rs2150096134
NM_001142800.2(EYS):c.2260-4T>G rs2150096139
NM_001142800.2(EYS):c.2260-7C>A rs532797776
NM_001142800.2(EYS):c.2260-7C>G
NM_001142800.2(EYS):c.2271T>C (p.Cys757=) rs1769273712
NM_001142800.2(EYS):c.2275_2276del (p.Cys759fs) rs758506938
NM_001142800.2(EYS):c.2277C>A (p.Cys759Ter)
NM_001142800.2(EYS):c.2287T>G (p.Trp763Gly) rs886061684
NM_001142800.2(EYS):c.2289G>A (p.Trp763Ter)
NM_001142800.2(EYS):c.2289G>T (p.Trp763Cys) rs1769272826
NM_001142800.2(EYS):c.2299T>C (p.Phe767Leu)
NM_001142800.2(EYS):c.2301T>C (p.Phe767=)
NM_001142800.2(EYS):c.2307A>G (p.Glu769=)
NM_001142800.2(EYS):c.2308C>A (p.Gln770Lys)
NM_001142800.2(EYS):c.2308C>G (p.Gln770Glu) rs992863438
NM_001142800.2(EYS):c.2310A>G (p.Gln770=) rs1252575967
NM_001142800.2(EYS):c.2311G>C (p.Glu771Gln)
NM_001142800.2(EYS):c.2311G>T (p.Glu771Ter)
NM_001142800.2(EYS):c.231T>C (p.Ile77=)
NM_001142800.2(EYS):c.2322G>A (p.Glu774=) rs1769270123
NM_001142800.2(EYS):c.2323T>C (p.Cys775Arg) rs1769270016
NM_001142800.2(EYS):c.232T>C (p.Cys78Arg)
NM_001142800.2(EYS):c.232del (p.Cys78fs) rs1468020897
NM_001142800.2(EYS):c.2331G>T (p.Met777Ile) rs1769269524
NM_001142800.2(EYS):c.2334T>C (p.Asn778=)
NM_001142800.2(EYS):c.2340C>A (p.Cys780Ter)
NM_001142800.2(EYS):c.2343G>A (p.Lys781=)
NM_001142800.2(EYS):c.2346C>A (p.Asn782Lys)
NM_001142800.2(EYS):c.2352C>T (p.Ser784=)
NM_001142800.2(EYS):c.2357G>C (p.Cys786Ser) rs1769268250
NM_001142800.2(EYS):c.2358T>C (p.Cys786=) rs2150096065
NM_001142800.2(EYS):c.2364C>T (p.Asp788=) rs1182039744
NM_001142800.2(EYS):c.236C>G (p.Pro79Arg)
NM_001142800.2(EYS):c.2370C>G (p.Tyr790Ter) rs1439242117
NM_001142800.2(EYS):c.2374del (p.Ser792fs) rs2150096054
NM_001142800.2(EYS):c.2376C>T (p.Ser792=)
NM_001142800.2(EYS):c.2381+10A>G
NM_001142800.2(EYS):c.2381+10A>T
NM_001142800.2(EYS):c.2381+11T>C
NM_001142800.2(EYS):c.2381+19G>T
NM_001142800.2(EYS):c.2381+1G>A rs1769267226
NM_001142800.2(EYS):c.2381+20C>T
NM_001142800.2(EYS):c.2381+20del
NM_001142800.2(EYS):c.2381G>A (p.Arg794Gln)
NM_001142800.2(EYS):c.2382-12A>G
NM_001142800.2(EYS):c.2382-15A>T
NM_001142800.2(EYS):c.2382-18T>G rs2150076976
NM_001142800.2(EYS):c.2382-7A>T
NM_001142800.2(EYS):c.2383T>A (p.Cys795Ser) rs912541868
NM_001142800.2(EYS):c.2385T>C (p.Cys795=) rs2150076954
NM_001142800.2(EYS):c.2390G>A (p.Cys797Tyr)
NM_001142800.2(EYS):c.2406T>C (p.Thr802=) rs2150076931
NM_001142800.2(EYS):c.2409A>G (p.Gly803=) rs191325005
NM_001142800.2(EYS):c.240G>A (p.Leu80=) rs2127271610
NM_001142800.2(EYS):c.2410C>T (p.Gln804Ter)
NM_001142800.2(EYS):c.2412G>C (p.Gln804His)
NM_001142800.2(EYS):c.2415C>A (p.Asn805Lys) rs2150076923
NM_001142800.2(EYS):c.2418T>C (p.Cys806=) rs2150076920
NM_001142800.2(EYS):c.2425G>T (p.Glu809Ter) rs951544417
NM_001142800.2(EYS):c.2427A>C (p.Glu809Asp) rs2150076908
NM_001142800.2(EYS):c.2439C>A (p.Cys813Ter) rs367546131
NM_001142800.2(EYS):c.243A>G (p.Gln81=)
NM_001142800.2(EYS):c.2440G>A (p.Asp814Asn)
NM_001142800.2(EYS):c.2446G>T (p.Asp816Tyr)
NM_001142800.2(EYS):c.2450C>T (p.Pro817Leu) rs1468227595
NM_001142800.2(EYS):c.2465G>A (p.Gly822Asp) rs1768037499
NM_001142800.2(EYS):c.246T>A (p.Ile82=)
NM_001142800.2(EYS):c.2474del (p.His825fs) rs2150076878
NM_001142800.2(EYS):c.2481T>C (p.Ser827=) rs990720429
NM_001142800.2(EYS):c.2482A>G (p.Thr828Ala) rs1474430377
NM_001142800.2(EYS):c.2483C>G (p.Thr828Ser) rs1768037062
NM_001142800.2(EYS):c.2484C>G (p.Thr828=)
NM_001142800.2(EYS):c.2485A>G (p.Ile829Val)
NM_001142800.2(EYS):c.2486T>C (p.Ile829Thr)
NM_001142800.2(EYS):c.2486del (p.Ile829fs) rs2150076869
NM_001142800.2(EYS):c.2487C>T (p.Ile829=) rs1159226555
NM_001142800.2(EYS):c.2496A>G (p.Gln832=)
NM_001142800.2(EYS):c.2498T>C (p.Phe833Ser)
NM_001142800.2(EYS):c.2499T>C (p.Phe833=)
NM_001142800.2(EYS):c.2499del (p.Phe833fs)
NM_001142800.2(EYS):c.2500G>T (p.Val834Leu) rs112464110
NM_001142800.2(EYS):c.2502A>G (p.Val834=)
NM_001142800.2(EYS):c.2508G>A (p.Leu836=) rs2150076846
NM_001142800.2(EYS):c.2513C>A (p.Pro838Gln)
NM_001142800.2(EYS):c.2513del (p.Pro838fs)
NM_001142800.2(EYS):c.2515C>T (p.Pro839Ser)
NM_001142800.2(EYS):c.2517C>A (p.Pro839=)
NM_001142800.2(EYS):c.2517C>G (p.Pro839=) rs1359464004
NM_001142800.2(EYS):c.2523T>C (p.Tyr841=)
NM_001142800.2(EYS):c.2526T>C (p.Thr842=)
NM_001142800.2(EYS):c.2527G>A (p.Gly843Arg) rs2150076826
NM_001142800.2(EYS):c.2532A>G (p.Gln844=)
NM_001142800.2(EYS):c.2540A>T (p.His847Leu) rs1460353199
NM_001142800.2(EYS):c.2541C>T (p.His847=) rs1473934022
NM_001142800.2(EYS):c.2544A>G (p.Gln848=)
NM_001142800.2(EYS):c.2545C>A (p.Arg849Ser)
NM_001142800.2(EYS):c.2546G>T (p.Arg849Leu)
NM_001142800.2(EYS):c.2547C>T (p.Arg849=)
NM_001142800.2(EYS):c.2551A>C (p.Asn851His)
NM_001142800.2(EYS):c.2554_2555delinsGC (p.Leu852Ala) rs2150076798
NM_001142800.2(EYS):c.2554del (p.Leu852fs) rs2150076802
NM_001142800.2(EYS):c.2555_2556delinsCA (p.Leu852Pro) rs2150076791
NM_001142800.2(EYS):c.2555_2556delinsCC (p.Leu852Pro)
NM_001142800.2(EYS):c.2563C>T (p.Leu855=) rs1768032777
NM_001142800.2(EYS):c.2575C>A (p.Pro859Thr)
NM_001142800.2(EYS):c.2575C>G (p.Pro859Ala)
NM_001142800.2(EYS):c.2576C>T (p.Pro859Leu)
NM_001142800.2(EYS):c.2579_2580delinsAA (p.Cys860Ter)
NM_001142800.2(EYS):c.2589C>G (p.Asn863Lys)
NM_001142800.2(EYS):c.2589C>T (p.Asn863=)
NM_001142800.2(EYS):c.2607G>A (p.Leu869=)
NM_001142800.2(EYS):c.2614G>A (p.Ala872Thr)
NM_001142800.2(EYS):c.2614G>C (p.Ala872Pro) rs957725168
NM_001142800.2(EYS):c.2615C>G (p.Ala872Gly) rs2150076756
NM_001142800.2(EYS):c.2617A>G (p.Asn873Asp)
NM_001142800.2(EYS):c.2622G>A (p.Gln874=) rs377592930
NM_001142800.2(EYS):c.2633G>A (p.Cys878Tyr)
NM_001142800.2(EYS):c.2634T>C (p.Cys878=) rs2150076747
NM_001142800.2(EYS):c.2637A>G (p.Arg879=)
NM_001142800.2(EYS):c.2638G>T (p.Glu880Ter) rs2150076741
NM_001142800.2(EYS):c.2641+14T>C
NM_001142800.2(EYS):c.2641+15G>A
NM_001142800.2(EYS):c.2641+15G>T
NM_001142800.2(EYS):c.2641+1G>A rs1768029728
NM_001142800.2(EYS):c.2641+20T>G
NM_001142800.2(EYS):c.2641G>A (p.Glu881Lys) rs1768029780
NM_001142800.2(EYS):c.2642-11A>G
NM_001142800.2(EYS):c.2642-12T>C
NM_001142800.2(EYS):c.2642-14C>T
NM_001142800.2(EYS):c.2642-18A>G
NM_001142800.2(EYS):c.2642-19C>T rs2150071824
NM_001142800.2(EYS):c.2642-6_2642-5del rs1483941780
NM_001142800.2(EYS):c.2642-7T>C rs1250749536
NM_001142800.2(EYS):c.2642-9T>G
NM_001142800.2(EYS):c.264T>C (p.Leu88=)
NM_001142800.2(EYS):c.2650G>A (p.Gly884Ser)
NM_001142800.2(EYS):c.2651G>A (p.Gly884Asp)
NM_001142800.2(EYS):c.2652dup (p.Lys885Ter) rs1767699695
NM_001142800.2(EYS):c.2657del (p.Asn886fs)
NM_001142800.2(EYS):c.2671G>A (p.Val891Met)
NM_001142800.2(EYS):c.2673G>A (p.Val891=) rs2150071791
NM_001142800.2(EYS):c.2688C>T (p.Phe896=)
NM_001142800.2(EYS):c.2694del (p.Cys899fs) rs2150071783
NM_001142800.2(EYS):c.2706T>C (p.Tyr902=)
NM_001142800.2(EYS):c.2706T>G (p.Tyr902Ter)
NM_001142800.2(EYS):c.2715_2716del (p.Cys905_Glu906delinsTer) rs2150071769
NM_001142800.2(EYS):c.2718A>G (p.Glu906=) rs1432938356
NM_001142800.2(EYS):c.2727C>G (p.Val909=)
NM_001142800.2(EYS):c.2738+11C>A
NM_001142800.2(EYS):c.2738+11C>G
NM_001142800.2(EYS):c.2738+17A>T
NM_001142800.2(EYS):c.2738+19G>T
NM_001142800.2(EYS):c.2738+1G>A rs1767696253
NM_001142800.2(EYS):c.2738+1G>T rs1767696253
NM_001142800.2(EYS):c.2738+3A>G
NM_001142800.2(EYS):c.2738+7A>G rs1583277836
NM_001142800.2(EYS):c.2739-10del rs1767690191
NM_001142800.2(EYS):c.2739-10dup rs1767690191
NM_001142800.2(EYS):c.2739-16A>T
NM_001142800.2(EYS):c.2739-18A>C
NM_001142800.2(EYS):c.2739-1G>A rs943468139
NM_001142800.2(EYS):c.2739-1G>T rs943468139
NM_001142800.2(EYS):c.2739-5A>T
NM_001142800.2(EYS):c.2739-7T>C rs2150071680
NM_001142800.2(EYS):c.2739-9G>C
NM_001142800.2(EYS):c.2739G>T (p.Arg913Ser) rs77020971
NM_001142800.2(EYS):c.2748C>A (p.Cys916Ter) rs1391928253
NM_001142800.2(EYS):c.2757G>A (p.Gly919=)
NM_001142800.2(EYS):c.2760T>C (p.Phe920=) rs2150071666
NM_001142800.2(EYS):c.2766A>G (p.Gly922=) rs2150071661
NM_001142800.2(EYS):c.2769T>C (p.Ser923=) rs2150071659
NM_001142800.2(EYS):c.2770C>T (p.Leu924=) rs1040002337
NM_001142800.2(EYS):c.2772G>A (p.Leu924=) rs767103281
NM_001142800.2(EYS):c.2772G>C (p.Leu924=) rs767103281
NM_001142800.2(EYS):c.2777A>T (p.Glu926Val) rs1190624699
NM_001142800.2(EYS):c.2791G>A (p.Glu931Lys)
NM_001142800.2(EYS):c.2791G>T (p.Glu931Ter)
NM_001142800.2(EYS):c.2793A>G (p.Glu931=) rs561012891
NM_001142800.2(EYS):c.2799C>T (p.Ser933=)
NM_001142800.2(EYS):c.2802T>C (p.Ser934=)
NM_001142800.2(EYS):c.2807del (p.Pro936fs)
NM_001142800.2(EYS):c.2811C>T (p.Cys937=)
NM_001142800.2(EYS):c.2811_2830del (p.Lys938fs) rs2150071623
NM_001142800.2(EYS):c.2816A>G (p.Asn939Ser)
NM_001142800.2(EYS):c.2820_2824del (p.Gly941fs) rs1583277585
NM_001142800.2(EYS):c.2826A>C (p.Thr942=) rs1286173421
NM_001142800.2(EYS):c.2826A>G (p.Thr942=)
NM_001142800.2(EYS):c.2828G>A (p.Cys943Tyr) rs986462667
NM_001142800.2(EYS):c.2829T>A (p.Cys943Ter)
NM_001142800.2(EYS):c.282A>G (p.Pro94=) rs2127271551
NM_001142800.2(EYS):c.283T>G (p.Ser95Ala)
NM_001142800.2(EYS):c.2844C>T (p.Asn948=) rs2150071619
NM_001142800.2(EYS):c.2845A>T (p.Arg949Ter)
NM_001142800.2(EYS):c.2846+17T>C
NM_001142800.2(EYS):c.2846+17del
NM_001142800.2(EYS):c.2846+18A>G
NM_001142800.2(EYS):c.2846+7A>G rs1767684916
NM_001142800.2(EYS):c.2846+8G>T
NM_001142800.2(EYS):c.2846+9C>A rs1368724134
NM_001142800.2(EYS):c.2846+9C>T rs1368724134
NM_001142800.2(EYS):c.2847-12A>C
NM_001142800.2(EYS):c.2847-12A>G
NM_001142800.2(EYS):c.2847-18T>C
NM_001142800.2(EYS):c.2847-1G>T
NM_001142800.2(EYS):c.2847-20A>G
NM_001142800.2(EYS):c.2854dup (p.Cys952fs) rs779877426
NM_001142800.2(EYS):c.2859T>C (p.Asn953=) rs2150063338
NM_001142800.2(EYS):c.285T>C (p.Ser95=)
NM_001142800.2(EYS):c.2861G>T (p.Cys954Phe)
NM_001142800.2(EYS):c.2871G>T (p.Glu957Asp) rs1767104470
NM_001142800.2(EYS):c.2880G>A (p.Gly960=)
NM_001142800.2(EYS):c.2881C>G (p.Pro961Ala) rs1170138781
NM_001142800.2(EYS):c.2883C>G (p.Pro961=)
NM_001142800.2(EYS):c.2892A>T (p.Glu964Asp)
NM_001142800.2(EYS):c.2898T>C (p.Asp966=)
NM_001142800.2(EYS):c.2899G>A (p.Val967Ile)
NM_001142800.2(EYS):c.289C>T (p.Gln97Ter) rs1766202141
NM_001142800.2(EYS):c.2904T>C (p.Asn968=)
NM_001142800.2(EYS):c.2907del (p.Lys969fs)
NM_001142800.2(EYS):c.2909G>A (p.Cys970Tyr) rs1767101953
NM_001142800.2(EYS):c.2919A>G (p.Ser973=)
NM_001142800.2(EYS):c.2923T>C (p.Cys975Arg)
NM_001142800.2(EYS):c.2926C>T (p.Leu976=)
NM_001142800.2(EYS):c.2930A>G (p.Asp977Gly) rs1459465709
NM_001142800.2(EYS):c.2931T>C (p.Asp977=) rs2150063285
NM_001142800.2(EYS):c.2932G>A (p.Glu978Lys) rs907697038
NM_001142800.2(EYS):c.2940T>C (p.Asn980=)
NM_001142800.2(EYS):c.2946C>T (p.Val982=) rs2150063272
NM_001142800.2(EYS):c.2950A>G (p.Arg984Gly) rs1030671986
NM_001142800.2(EYS):c.2955T>A (p.Thr985=)
NM_001142800.2(EYS):c.2961A>G (p.Gly987=) rs998158354
NM_001142800.2(EYS):c.2964C>T (p.Tyr988=)
NM_001142800.2(EYS):c.2967C>T (p.Asn989=) rs1767097811
NM_001142800.2(EYS):c.2975G>T (p.Cys992Phe) rs566917467
NM_001142800.2(EYS):c.2979C>A (p.Ala993=) rs2150063234
NM_001142800.2(EYS):c.2979C>G (p.Ala993=)
NM_001142800.2(EYS):c.2980C>G (p.Pro994Ala)
NM_001142800.2(EYS):c.2981del (p.Pro994fs) rs1583260302
NM_001142800.2(EYS):c.2982T>C (p.Pro994=)
NM_001142800.2(EYS):c.298G>T (p.Glu100Ter)
NM_001142800.2(EYS):c.2992+11A>C
NM_001142800.2(EYS):c.2992+13C>T
NM_001142800.2(EYS):c.2992+16T>A
NM_001142800.2(EYS):c.2992+9A>C rs886061680
NM_001142800.2(EYS):c.2992+9A>G rs886061680
NM_001142800.2(EYS):c.2993-13T>G
NM_001142800.2(EYS):c.2993-14C>T
NM_001142800.2(EYS):c.2993-1G>A
NM_001142800.2(EYS):c.2993-5C>T rs1287492434
NM_001142800.2(EYS):c.2993-7A>T rs1764940916
NM_001142800.2(EYS):c.2993-9C>T
NM_001142800.2(EYS):c.2993G>A (p.Gly998Asp) rs578061514
NM_001142800.2(EYS):c.299A>G (p.Glu100Gly) rs1766201729
NM_001142800.2(EYS):c.3001del (p.Cys1001fs) rs2150022848
NM_001142800.2(EYS):c.3003_3004del (p.Cys1001_Glu1002delinsTer) rs1764940309
NM_001142800.2(EYS):c.3009A>C (p.Ile1003=) rs1583194501
NM_001142800.2(EYS):c.3010A>G (p.Asn1004Asp) rs781222768
NM_001142800.2(EYS):c.3015A>G (p.Leu1005=)
NM_001142800.2(EYS):c.3018T>C (p.Asp1006=) rs2150022821
NM_001142800.2(EYS):c.3023G>A (p.Cys1008Tyr)
NM_001142800.2(EYS):c.3024C>A (p.Cys1008Ter) rs1764939836
NM_001142800.2(EYS):c.3025C>T (p.Leu1009=) rs1764939774
NM_001142800.2(EYS):c.3026T>C (p.Leu1009Pro)
NM_001142800.2(EYS):c.3027A>C (p.Leu1009=) rs900271990
NM_001142800.2(EYS):c.3031G>A (p.Glu1011Lys)
NM_001142800.2(EYS):c.3040C>A (p.Leu1014Ile)
NM_001142800.2(EYS):c.3042C>G (p.Leu1014=) rs2150022790
NM_001142800.2(EYS):c.3042C>T (p.Leu1014=)
NM_001142800.2(EYS):c.3045T>C (p.His1015=) rs1042883062
NM_001142800.2(EYS):c.3045T>G (p.His1015Gln)
NM_001142800.2(EYS):c.3048T>C (p.Asp1016=)
NM_001142800.2(EYS):c.3062A>G (p.Asp1021Gly)
NM_001142800.2(EYS):c.306T>C (p.Asn102=)
NM_001142800.2(EYS):c.3072T>A (p.Asn1024Lys) rs2150022753
NM_001142800.2(EYS):c.3076T>C (p.Tyr1026His) rs913206057
NM_001142800.2(EYS):c.3078_3079delinsCG (p.Thr1027Ala)
NM_001142800.2(EYS):c.307T>C (p.Leu103=) rs1766201371
NM_001142800.2(EYS):c.3089G>C (p.Cys1030Ser) rs1764936871
NM_001142800.2(EYS):c.3105T>C (p.Phe1035=) rs969468917
NM_001142800.2(EYS):c.3105dup (p.Gly1036fs)
NM_001142800.2(EYS):c.3106G>T (p.Gly1036Ter)
NM_001142800.2(EYS):c.3106_3113delinsTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACC (p.Gly1036_His1038delinsPhePhePhePhePhePheXaaXaaXaaXaaPhePhePhePheIleIleLeuTer) rs2150022701
NM_001142800.2(EYS):c.3112del (p.His1038fs)
NM_001142800.2(EYS):c.3120A>G (p.Glu1040=)
NM_001142800.2(EYS):c.3123A>T (p.Thr1041=) rs1220615435
NM_001142800.2(EYS):c.3126C>T (p.Asn1042=) rs368790430
NM_001142800.2(EYS):c.3127G>A (p.Ala1043Thr) rs2150022688
NM_001142800.2(EYS):c.3131A>G (p.Asn1044Ser)
NM_001142800.2(EYS):c.3135T>C (p.Asp1045=)
NM_001142800.2(EYS):c.3141T>C (p.Leu1047=)
NM_001142800.2(EYS):c.3143C>G (p.Ser1048Ter)
NM_001142800.2(EYS):c.3146A>G (p.Asn1049Ser) rs2150022666
NM_001142800.2(EYS):c.3146del (p.Asn1049fs)
NM_001142800.2(EYS):c.3153del (p.Leu1052fs) rs1764934644
NM_001142800.2(EYS):c.3164+15del rs201012275
NM_001142800.2(EYS):c.3164+16A>G
NM_001142800.2(EYS):c.3164+2T>C
NM_001142800.2(EYS):c.3164+8T>A rs1385606496
NM_001142800.2(EYS):c.3164+8dup rs201012275
NM_001142800.2(EYS):c.3165-12del
NM_001142800.2(EYS):c.3165-13T>C rs1389539447
NM_001142800.2(EYS):c.3165-17C>T
NM_001142800.2(EYS):c.3165-2A>G rs2150022025
NM_001142800.2(EYS):c.3165-7_3165-6del rs1764905524
NM_001142800.2(EYS):c.3171A>T (p.Thr1057=) rs1213184319
NM_001142800.2(EYS):c.3172G>T (p.Glu1058Ter) rs2150022015
NM_001142800.2(EYS):c.3174A>T (p.Glu1058Asp) rs1764904888
NM_001142800.2(EYS):c.3178_3179del (p.Leu1059_Ile1060insTer)
NM_001142800.2(EYS):c.3183T>A (p.Asn1061Lys)
NM_001142800.2(EYS):c.3189T>C (p.Tyr1063=)
NM_001142800.2(EYS):c.3197C>T (p.Ser1066Leu)
NM_001142800.2(EYS):c.3198A>G (p.Ser1066=) rs1222670929
NM_001142800.2(EYS):c.31C>T (p.Leu11=) rs1475478558
NM_001142800.2(EYS):c.3201T>A (p.Cys1067Ter) rs2150021992
NM_001142800.2(EYS):c.3203A>T (p.Asp1068Val)
NM_001142800.2(EYS):c.3213G>A (p.Gly1071=) rs2150021979
NM_001142800.2(EYS):c.3213del (p.Thr1072fs)
NM_001142800.2(EYS):c.3219C>T (p.Ser1073=)
NM_001142800.2(EYS):c.321T>G (p.Ser107=) rs2127271495
NM_001142800.2(EYS):c.3221C>T (p.Thr1074Ile)
NM_001142800.2(EYS):c.3228T>C (p.Cys1076=)
NM_001142800.2(EYS):c.3243+7C>T
NM_001142800.2(EYS):c.3243+8_3243+9del rs2150021949
NM_001142800.2(EYS):c.3244-13T>A
NM_001142800.2(EYS):c.3244-4C>G
NM_001142800.2(EYS):c.3244-7A>G
NM_001142800.2(EYS):c.3252A>G (p.Thr1084=)
NM_001142800.2(EYS):c.3262T>A (p.Cys1088Ser)
NM_001142800.2(EYS):c.326C>T (p.Thr109Ile)
NM_001142800.2(EYS):c.3275G>T (p.Gly1092Val)
NM_001142800.2(EYS):c.3280del (p.Cys1094fs)
NM_001142800.2(EYS):c.3285G>A (p.Gln1095=)
NM_001142800.2(EYS):c.3294A>G (p.Ala1098=)
NM_001142800.2(EYS):c.3296A>G (p.His1099Arg)
NM_001142800.2(EYS):c.3297T>C (p.His1099=) rs1583184764
NM_001142800.2(EYS):c.3298G>T (p.Gly1100Ter)
NM_001142800.2(EYS):c.3299G>A (p.Gly1100Glu)
NM_001142800.2(EYS):c.3311T>C (p.Ile1104Thr) rs1764661327
NM_001142800.2(EYS):c.3315C>T (p.Cys1105=) rs2150016219
NM_001142800.2(EYS):c.3317C>T (p.Pro1106Leu) rs1764661002
NM_001142800.2(EYS):c.3318A>T (p.Pro1106=)
NM_001142800.2(EYS):c.3319C>T (p.Arg1107Cys) rs766897712
NM_001142800.2(EYS):c.3323G>T (p.Gly1108Val) rs2150016211
NM_001142800.2(EYS):c.3327C>T (p.Tyr1109=) rs2150016204
NM_001142800.2(EYS):c.3328A>G (p.Thr1110Ala)
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.3353T>C (p.Ile1118Thr) rs1412311460
NM_001142800.2(EYS):c.3356A>G (p.Asp1119Gly)
NM_001142800.2(EYS):c.335T>C (p.Val112Ala)
NM_001142800.2(EYS):c.3360T>C (p.Asn1120=) rs1583184621
NM_001142800.2(EYS):c.3363T>C (p.Cys1121=)
NM_001142800.2(EYS):c.3363del (p.Cys1121fs) rs2150016153
NM_001142800.2(EYS):c.3368A>G (p.Glu1123Gly) rs2150016148
NM_001142800.2(EYS):c.3369G>A (p.Glu1123=) rs2150016144
NM_001142800.2(EYS):c.3378del (p.Asn1127fs)
NM_001142800.2(EYS):c.3380A>C (p.Asn1127Thr)
NM_001142800.2(EYS):c.3380A>G (p.Asn1127Ser)
NM_001142800.2(EYS):c.3380A>T (p.Asn1127Ile)
NM_001142800.2(EYS):c.3381T>C (p.Asn1127=)
NM_001142800.2(EYS):c.3385del (p.Val1129fs) rs2150016133
NM_001142800.2(EYS):c.3391T>C (p.Cys1131Arg) rs1764656337
NM_001142800.2(EYS):c.3399T>C (p.Asn1133=) rs2150016128
NM_001142800.2(EYS):c.33G>C (p.Leu11=) rs777361054
NM_001142800.2(EYS):c.3405G>A (p.Gly1135=)
NM_001142800.2(EYS):c.3405G>C (p.Gly1135=) rs2150016121
NM_001142800.2(EYS):c.3417T>C (p.Asp1139=) rs1238692406
NM_001142800.2(EYS):c.3429T>C (p.His1143=)
NM_001142800.2(EYS):c.3429T>G (p.His1143Gln)
NM_001142800.2(EYS):c.342T>A (p.Cys114Ter) rs1418930514
NM_001142800.2(EYS):c.3435T>C (p.Phe1145=) rs897407671
NM_001142800.2(EYS):c.3435_3436insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGCTGGACATACTTTT (p.Asp1146delinsPhePhePhePhePhePheXaaXaaXaaXaaGlyPheHisArgPheSerArgAspGlyLeuAspLeuLeuThrSerTer)
NM_001142800.2(EYS):c.3441C>A (p.Cys1147Ter) rs2150016080
NM_001142800.2(EYS):c.3443+10T>C rs2150016070
NM_001142800.2(EYS):c.3443+11A>T rs2150016065
NM_001142800.2(EYS):c.3443+15A>G
NM_001142800.2(EYS):c.3443+15A>T
NM_001142800.2(EYS):c.3443+18C>T
NM_001142800.2(EYS):c.3443+1G>A rs373441420
NM_001142800.2(EYS):c.3443+4A>C rs2150016072
NM_001142800.2(EYS):c.3444-10T>C
NM_001142800.2(EYS):c.3444-13T>C
NM_001142800.2(EYS):c.3444-7del rs1163024711
NM_001142800.2(EYS):c.3444-7dup rs1163024711
NM_001142800.2(EYS):c.3444-8T>G rs2149856899
NM_001142800.2(EYS):c.3444A>T (p.Arg1148Ser) rs1377722024
NM_001142800.2(EYS):c.344T>C (p.Val115Ala)
NM_001142800.2(EYS):c.345G>T (p.Val115=)
NM_001142800.2(EYS):c.3462T>C (p.Ser1154=)
NM_001142800.2(EYS):c.3468A>G (p.Gln1156=)
NM_001142800.2(EYS):c.3473G>A (p.Cys1158Tyr)
NM_001142800.2(EYS):c.3477A>G (p.Glu1159=) rs2149856855
NM_001142800.2(EYS):c.3485T>C (p.Ile1162Thr)
NM_001142800.2(EYS):c.3489T>C (p.Asn1163=) rs150951106
NM_001142800.2(EYS):c.3490G>T (p.Glu1164Ter) rs2149856835
NM_001142800.2(EYS):c.3493T>C (p.Cys1165Arg)
NM_001142800.2(EYS):c.3503C>A (p.Ser1168Ter) rs894122437
NM_001142800.2(EYS):c.3509G>A (p.Cys1170Tyr) rs1767603582
NM_001142800.2(EYS):c.3521C>A (p.Ala1174Glu) rs1767602954
NM_001142800.2(EYS):c.3536A>G (p.His1179Arg) rs1767602193
NM_001142800.2(EYS):c.3548A>G (p.Tyr1183Cys) rs2149856760
NM_001142800.2(EYS):c.3549T>C (p.Tyr1183=)
NM_001142800.2(EYS):c.3550G>A (p.Val1184Ile) rs1767601644
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.3566C>T (p.Pro1189Leu)
NM_001142800.2(EYS):c.3567del (p.Gly1190fs) rs1767601116
NM_001142800.2(EYS):c.3568+12A>G
NM_001142800.2(EYS):c.3568+12A>T
NM_001142800.2(EYS):c.3568+1G>A rs1767600988
NM_001142800.2(EYS):c.3568+1G>C
NM_001142800.2(EYS):c.3568+20_3568+22del
NM_001142800.2(EYS):c.3568+7A>G
NM_001142800.2(EYS):c.3568G>C (p.Gly1190Arg) rs1767601042
NM_001142800.2(EYS):c.3569-17G>A
NM_001142800.2(EYS):c.3569-19T>C
NM_001142800.2(EYS):c.3569-3C>G
NM_001142800.2(EYS):c.3569-6G>A rs940919017
NM_001142800.2(EYS):c.3569-6G>T rs940919017
NM_001142800.2(EYS):c.3569-7T>C rs1036723042
NM_001142800.2(EYS):c.3573G>A (p.Trp1191Ter) rs1239806410
NM_001142800.2(EYS):c.3573G>T (p.Trp1191Cys)
NM_001142800.2(EYS):c.3581_3582del (p.His1194fs) rs1767312015
NM_001142800.2(EYS):c.3582C>T (p.His1194=)
NM_001142800.2(EYS):c.3588T>C (p.Cys1196=)
NM_001142800.2(EYS):c.3588dup (p.Glu1197Ter) rs2149849545
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.3612C>T (p.Pro1204=) rs2149849524
NM_001142800.2(EYS):c.3614A>G (p.Asn1205Ser) rs1767311557
NM_001142800.2(EYS):c.3615C>T (p.Asn1205=)
NM_001142800.2(EYS):c.3618A>C (p.Ser1206=)
NM_001142800.2(EYS):c.3618_3619del (p.Val1208fs)
NM_001142800.2(EYS):c.361del (p.Glu121fs) rs1582376560
NM_001142800.2(EYS):c.3624T>C (p.Val1208=)
NM_001142800.2(EYS):c.362A>G (p.Glu121Gly) rs1766196909
NM_001142800.2(EYS):c.3651T>C (p.Pro1217=)
NM_001142800.2(EYS):c.3654C>A (p.Gly1218=)
NM_001142800.2(EYS):c.3656_3657delinsAA (p.Ser1219Ter) rs2149849472
NM_001142800.2(EYS):c.3657G>A (p.Ser1219=) rs1028539228
NM_001142800.2(EYS):c.3657G>C (p.Ser1219=)
NM_001142800.2(EYS):c.3657G>T (p.Ser1219=) rs1028539228
NM_001142800.2(EYS):c.365A>T (p.Asp122Val)
NM_001142800.2(EYS):c.3661T>G (p.Cys1221Gly) rs572419710
NM_001142800.2(EYS):c.3663T>C (p.Cys1221=)
NM_001142800.2(EYS):c.3676G>T (p.Gly1226Ter) rs1405658671
NM_001142800.2(EYS):c.3684+11C>T
NM_001142800.2(EYS):c.3684+13G>A
NM_001142800.2(EYS):c.3684+17G>A
NM_001142800.2(EYS):c.3684+1G>A
NM_001142800.2(EYS):c.3684+9T>G
NM_001142800.2(EYS):c.3685-11G>A
NM_001142800.2(EYS):c.3685-15_3685-10del rs1562081588
NM_001142800.2(EYS):c.3685-20A>G
NM_001142800.2(EYS):c.3685-5T>C
NM_001142800.2(EYS):c.3685-7T>C rs2149833446
NM_001142800.2(EYS):c.3690C>T (p.Cys1230=) rs886061678
NM_001142800.2(EYS):c.3695T>A (p.Ile1232Asn)
NM_001142800.2(EYS):c.3699del (p.Leu1234fs) rs1318739667
NM_001142800.2(EYS):c.3703C>G (p.Leu1235Val) rs1452073359
NM_001142800.2(EYS):c.3709G>C (p.Gly1237Arg) rs1383398602
NM_001142800.2(EYS):c.3714T>C (p.Asp1238=) rs1766469574
NM_001142800.2(EYS):c.3715G>A (p.Glu1239Lys)
NM_001142800.2(EYS):c.3723G>A (p.Arg1241=)
NM_001142800.2(EYS):c.3723_3725del (p.Arg1242del)
NM_001142800.2(EYS):c.3732C>G (p.Thr1244=)
NM_001142800.2(EYS):c.3732C>T (p.Thr1244=)
NM_001142800.2(EYS):c.3735T>C (p.Cys1245=) rs1455066892
NM_001142800.2(EYS):c.3736T>C (p.Leu1246=) rs2149833381
NM_001142800.2(EYS):c.3737T>C (p.Leu1246Ser) rs1766468940
NM_001142800.2(EYS):c.3744C>A (p.Pro1248=) rs899139223
NM_001142800.2(EYS):c.3744C>G (p.Pro1248=) rs899139223
NM_001142800.2(EYS):c.3747C>A (p.Ile1249=)
NM_001142800.2(EYS):c.3768T>A (p.Ile1256=)
NM_001142800.2(EYS):c.3768_3769dup (p.Ser1257fs) rs2149833352
NM_001142800.2(EYS):c.3774A>G (p.Thr1258=)
NM_001142800.2(EYS):c.3775C>T (p.Gln1259Ter) rs1291867456
NM_001142800.2(EYS):c.3779C>T (p.Thr1260Ile) rs759438157
NM_001142800.2(EYS):c.3780A>G (p.Thr1260=) rs1445580996
NM_001142800.2(EYS):c.3783T>C (p.Tyr1261=)
NM_001142800.2(EYS):c.3783_3784del (p.Thr1262fs) rs2149833339
NM_001142800.2(EYS):c.3786_3787delinsTG (p.Ile1263Val)
NM_001142800.2(EYS):c.3789T>C (p.Ile1263=)
NM_001142800.2(EYS):c.3789dup (p.Pro1264fs)
NM_001142800.2(EYS):c.3792C>G (p.Pro1264=) rs551318605
NM_001142800.2(EYS):c.3799G>A (p.Glu1267Lys) rs1704195448
NM_001142800.2(EYS):c.3799G>T (p.Glu1267Ter) rs1704195448
NM_001142800.2(EYS):c.3809T>A (p.Val1270Asp) rs368856942
NM_001142800.2(EYS):c.3810C>A (p.Val1270=)
NM_001142800.2(EYS):c.381C>T (p.Gly127=)
NM_001142800.2(EYS):c.3822A>G (p.Pro1274=) rs924477825
NM_001142800.2(EYS):c.3825T>A (p.Ser1275=)
NM_001142800.2(EYS):c.3828A>T (p.Ile1276=)
NM_001142800.2(EYS):c.3829A>C (p.Lys1277Gln)
NM_001142800.2(EYS):c.3833C>T (p.Ala1278Val) rs2149833286
NM_001142800.2(EYS):c.3845C>T (p.Pro1282Leu)
NM_001142800.2(EYS):c.384C>T (p.Cys128=) rs755799753
NM_001142800.2(EYS):c.3859A>G (p.Thr1287Ala) rs1766463376
NM_001142800.2(EYS):c.3862dup (p.Tyr1288fs) rs2149833264
NM_001142800.2(EYS):c.3864C>T (p.Tyr1288=)
NM_001142800.2(EYS):c.386G>C (p.Arg129Thr) rs1224551754
NM_001142800.2(EYS):c.3874C>T (p.Gln1292Ter)
NM_001142800.2(EYS):c.3877+11G>A
NM_001142800.2(EYS):c.3877+11G>T
NM_001142800.2(EYS):c.3877+12T>A
NM_001142800.2(EYS):c.3877+15G>A rs1179872325
NM_001142800.2(EYS):c.3877+15_3877+19del
NM_001142800.2(EYS):c.3877+18_3877+22del rs139235690
NM_001142800.2(EYS):c.3877+1G>T
NM_001142800.2(EYS):c.3877+8G>A
NM_001142800.2(EYS):c.3878-12dup
NM_001142800.2(EYS):c.3878-16T>A
NM_001142800.2(EYS):c.3878-5T>C
NM_001142800.2(EYS):c.3878G>A (p.Gly1293Asp) rs763158109
NM_001142800.2(EYS):c.387A>G (p.Arg129=) rs751895367
NM_001142800.2(EYS):c.3881C>T (p.Pro1294Leu)
NM_001142800.2(EYS):c.3886C>T (p.Gln1296Ter)
NM_001142800.2(EYS):c.3889A>G (p.Thr1297Ala) rs1766427477
NM_001142800.2(EYS):c.3889A>T (p.Thr1297Ser)
NM_001142800.2(EYS):c.3889_3892del (p.Thr1297fs) rs1766427315
NM_001142800.2(EYS):c.3890C>T (p.Thr1297Ile) rs1766427401
NM_001142800.2(EYS):c.3892G>C (p.Gly1298Arg)
NM_001142800.2(EYS):c.3894C>G (p.Gly1298=)
NM_001142800.2(EYS):c.3903del (p.Lys1301fs)
NM_001142800.2(EYS):c.3905A>G (p.His1302Arg) rs886061676
NM_001142800.2(EYS):c.3906C>A (p.His1302Gln) rs12663916
NM_001142800.2(EYS):c.3909C>T (p.Asp1303=)
NM_001142800.2(EYS):c.3924T>G (p.Thr1308=) rs903929671
NM_001142800.2(EYS):c.3928T>C (p.Leu1310=) rs2149832599
NM_001142800.2(EYS):c.3930G>A (p.Leu1310=)
NM_001142800.2(EYS):c.3939A>G (p.Leu1313=) rs2149832584
NM_001142800.2(EYS):c.3941del (p.Arg1314fs)
NM_001142800.2(EYS):c.3946A>T (p.Ser1316Cys) rs1766425225
NM_001142800.2(EYS):c.3951A>C (p.Thr1317=)
NM_001142800.2(EYS):c.3951_3952del (p.Pro1318fs) rs1270740001
NM_001142800.2(EYS):c.3952C>T (p.Pro1318Ser) rs1412164023
NM_001142800.2(EYS):c.3957G>A (p.Leu1319=)
NM_001142800.2(EYS):c.3959A>G (p.Glu1320Gly)
NM_001142800.2(EYS):c.3968T>G (p.Leu1323Ter)
NM_001142800.2(EYS):c.3972_3973delinsTG (p.Gln1325Glu) rs1766423595
NM_001142800.2(EYS):c.3972_3973inv (p.Gln1325Glu)
NM_001142800.2(EYS):c.3973C>A (p.Gln1325Lys) rs12663622
NM_001142800.2(EYS):c.3978A>G (p.Glu1326=) rs2149832547
NM_001142800.2(EYS):c.3987C>T (p.Val1329=) rs2149832539
NM_001142800.2(EYS):c.4002A>G (p.Ser1334=) rs1459942349
NM_001142800.2(EYS):c.400C>T (p.His134Tyr)
NM_001142800.2(EYS):c.4010A>G (p.His1337Arg) rs1766422531
NM_001142800.2(EYS):c.4010A>T (p.His1337Leu)
NM_001142800.2(EYS):c.4011C>T (p.His1337=) rs2149832524
NM_001142800.2(EYS):c.4011_4012del (p.His1337fs) rs2149832523
NM_001142800.2(EYS):c.4013G>A (p.Ser1338Asn)
NM_001142800.2(EYS):c.4015C>A (p.Leu1339Ile) rs1325494721
NM_001142800.2(EYS):c.4023T>C (p.Ser1341=)
NM_001142800.2(EYS):c.4032T>C (p.Asp1344=)
NM_001142800.2(EYS):c.4037C>G (p.Ser1346Cys)
NM_001142800.2(EYS):c.403_404del (p.Thr135fs) rs2127271339
NM_001142800.2(EYS):c.403_423delinsCTTTT (p.Thr135fs) rs1582376398
NM_001142800.2(EYS):c.4041T>A (p.Ser1347=) rs2149832494
NM_001142800.2(EYS):c.4043C>T (p.Ser1348Phe)
NM_001142800.2(EYS):c.4056T>C (p.Asn1352=)
NM_001142800.2(EYS):c.405T>C (p.Thr135=)
NM_001142800.2(EYS):c.4061G>T (p.Gly1354Val) rs1766421024
NM_001142800.2(EYS):c.4065T>C (p.Ile1355=) rs1408746266
NM_001142800.2(EYS):c.4066C>T (p.Arg1356Cys)
NM_001142800.2(EYS):c.4069G>T (p.Asp1357Tyr)
NM_001142800.2(EYS):c.4071C>T (p.Asp1357=)
NM_001142800.2(EYS):c.4074A>C (p.Pro1358=)
NM_001142800.2(EYS):c.4077del (p.Gln1360fs)
NM_001142800.2(EYS):c.4078C>T (p.Gln1360Ter)
NM_001142800.2(EYS):c.4080A>G (p.Gln1360=) rs2149832467
NM_001142800.2(EYS):c.4083T>G (p.Ile1361Met)
NM_001142800.2(EYS):c.4086C>A (p.Val1362=) rs1766419897
NM_001142800.2(EYS):c.4088A>G (p.Gln1363Arg)
NM_001142800.2(EYS):c.4093A>C (p.Lys1365Gln) rs16895519
NM_001142800.2(EYS):c.409A>G (p.Asn137Asp)
NM_001142800.2(EYS):c.40T>C (p.Phe14Leu) rs1766219715
NM_001142800.2(EYS):c.4103dup (p.Ser1369fs)
NM_001142800.2(EYS):c.4106C>T (p.Ser1369Leu) rs769949135
NM_001142800.2(EYS):c.4116_4117insGC (p.Ile1373fs) rs1582930536
NM_001142800.2(EYS):c.4135A>G (p.Thr1379Ala)
NM_001142800.2(EYS):c.4137A>G (p.Thr1379=)
NM_001142800.2(EYS):c.4140A>G (p.Leu1380=)
NM_001142800.2(EYS):c.4141G>A (p.Gly1381Ser) rs1758206278
NM_001142800.2(EYS):c.414dup (p.Lys139Ter)
NM_001142800.2(EYS):c.4150T>A (p.Phe1384Ile)
NM_001142800.2(EYS):c.4152dup (p.Pro1385fs) rs1185686653
NM_001142800.2(EYS):c.4154_4155del (p.Pro1385fs) rs1766416713
NM_001142800.2(EYS):c.4155T>G (p.Pro1385=)
NM_001142800.2(EYS):c.4164A>G (p.Arg1388=)
NM_001142800.2(EYS):c.4166C>A (p.Ala1389Glu)
NM_001142800.2(EYS):c.4170G>A (p.Arg1390=) rs2149832372
NM_001142800.2(EYS):c.4176A>G (p.Pro1392=)
NM_001142800.2(EYS):c.417G>A (p.Lys139=)
NM_001142800.2(EYS):c.4180A>G (p.Ile1394Val)
NM_001142800.2(EYS):c.4195del (p.Met1399fs) rs2149832355
NM_001142800.2(EYS):c.4196T>C (p.Met1399Thr)
NM_001142800.2(EYS):c.4200A>G (p.Ser1400=)
NM_001142800.2(EYS):c.4207del (p.Ile1403fs) rs1766414666
NM_001142800.2(EYS):c.4209T>C (p.Ile1403=) rs2149832344
NM_001142800.2(EYS):c.4217C>G (p.Thr1406Arg)
NM_001142800.2(EYS):c.4231T>C (p.Phe1411Leu)
NM_001142800.2(EYS):c.4233del (p.Phe1411fs)
NM_001142800.2(EYS):c.4239C>T (p.Asn1413=) rs2149832318
NM_001142800.2(EYS):c.423G>A (p.Leu141=)
NM_001142800.2(EYS):c.4240T>C (p.Cys1414Arg)
NM_001142800.2(EYS):c.4245G>A (p.Gln1415=) rs375166229
NM_001142800.2(EYS):c.4251T>C (p.Val1417=)
NM_001142800.2(EYS):c.4252G>C (p.Ala1418Pro) rs1766413211
NM_001142800.2(EYS):c.4253del (p.Ala1418fs)
NM_001142800.2(EYS):c.4256_4257delinsCC (p.Leu1419Ser) rs2149832303
NM_001142800.2(EYS):c.4265C>T (p.Thr1422Ile)
NM_001142800.2(EYS):c.4266C>T (p.Thr1422=)
NM_001142800.2(EYS):c.4267C>T (p.Pro1423Ser) rs763400165
NM_001142800.2(EYS):c.4271C>G (p.Thr1424Arg)
NM_001142800.2(EYS):c.4272G>A (p.Thr1424=)
NM_001142800.2(EYS):c.4272G>C (p.Thr1424=)
NM_001142800.2(EYS):c.4272G>T (p.Thr1424=)
NM_001142800.2(EYS):c.4275T>G (p.Thr1425=)
NM_001142800.2(EYS):c.4278A>G (p.Ser1426=)
NM_001142800.2(EYS):c.4281A>G (p.Val1427=) rs2149832278
NM_001142800.2(EYS):c.4287A>G (p.Arg1429=)
NM_001142800.2(EYS):c.4294C>A (p.Pro1432Thr)
NM_001142800.2(EYS):c.4304A>G (p.Asp1435Gly) rs2149832253
NM_001142800.2(EYS):c.4308T>C (p.Ile1436=) rs1402137490
NM_001142800.2(EYS):c.4309G>T (p.Glu1437Ter)
NM_001142800.2(EYS):c.4311G>A (p.Glu1437=) rs2149832248
NM_001142800.2(EYS):c.4311G>T (p.Glu1437Asp)
NM_001142800.2(EYS):c.4316del (p.Asn1439fs)
NM_001142800.2(EYS):c.4318A>C (p.Arg1440=) rs1582930168
NM_001142800.2(EYS):c.4320G>A (p.Arg1440=) rs1562080243
NM_001142800.2(EYS):c.4321C>T (p.Gln1441Ter) rs1766410692
NM_001142800.2(EYS):c.4326A>G (p.Ser1442=) rs1340543682
NM_001142800.2(EYS):c.432G>A (p.Gly144=) rs1419032489
NM_001142800.2(EYS):c.4332C>T (p.Leu1444=)
NM_001142800.2(EYS):c.4337G>T (p.Arg1446Leu) rs562707818
NM_001142800.2(EYS):c.4341A>T (p.Gly1447=)
NM_001142800.2(EYS):c.4344C>T (p.Phe1448=)
NM_001142800.2(EYS):c.4350T>C (p.Leu1450=)
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.4362C>T (p.Ser1454=)
NM_001142800.2(EYS):c.4371A>T (p.Ala1457=)
NM_001142800.2(EYS):c.4373C>G (p.Thr1458Ser)
NM_001142800.2(EYS):c.4377A>G (p.Pro1459=) rs987258143
NM_001142800.2(EYS):c.4380T>A (p.Val1460=) rs1766408641
NM_001142800.2(EYS):c.4383C>T (p.Val1461=)
NM_001142800.2(EYS):c.4386_4387insGCCT (p.Arg1463delinsAlaTer)
NM_001142800.2(EYS):c.4387A>C (p.Arg1463=)
NM_001142800.2(EYS):c.4389G>A (p.Arg1463=) rs758077611
NM_001142800.2(EYS):c.4390_4391insA (p.Gly1464fs)
NM_001142800.2(EYS):c.4392G>C (p.Gly1464=)
NM_001142800.2(EYS):c.4392_4393del (p.Ala1465fs)
NM_001142800.2(EYS):c.4393G>A (p.Ala1465Thr) rs747921119
NM_001142800.2(EYS):c.4393G>T (p.Ala1465Ser) rs747921119
NM_001142800.2(EYS):c.4393dup (p.Ala1465fs) rs750840208
NM_001142800.2(EYS):c.4394C>A (p.Ala1465Asp)
NM_001142800.2(EYS):c.4397A>G (p.Gln1466Arg)
NM_001142800.2(EYS):c.4402G>T (p.Asp1468Tyr) rs778752557
NM_001142800.2(EYS):c.4403A>G (p.Asp1468Gly) rs2149832138
NM_001142800.2(EYS):c.4406T>C (p.Ile1469Thr)
NM_001142800.2(EYS):c.4409A>T (p.Glu1470Val) rs555692190
NM_001142800.2(EYS):c.4413A>G (p.Glu1471=)
NM_001142800.2(EYS):c.4419A>C (p.Ser1473=) rs1582929949
NM_001142800.2(EYS):c.4422T>A (p.Ala1474=)
NM_001142800.2(EYS):c.4422T>C (p.Ala1474=) rs2149832114
NM_001142800.2(EYS):c.4425T>C (p.Asp1475=)
NM_001142800.2(EYS):c.4434T>A (p.Ile1478=)
NM_001142800.2(EYS):c.4446G>A (p.Glu1482=)
NM_001142800.2(EYS):c.4450T>C (p.Trp1484Arg)
NM_001142800.2(EYS):c.4451G>T (p.Trp1484Leu)
NM_001142800.2(EYS):c.4455A>G (p.Arg1485=) rs755759273
NM_001142800.2(EYS):c.4458G>A (p.Leu1486=) rs2149832091
NM_001142800.2(EYS):c.445dup (p.Ile149fs)
NM_001142800.2(EYS):c.4461C>G (p.Leu1487=) rs2149832090
NM_001142800.2(EYS):c.4464C>T (p.Ser1488=)
NM_001142800.2(EYS):c.4465C>T (p.Pro1489Ser)
NM_001142800.2(EYS):c.4469C>T (p.Ser1490Leu)
NM_001142800.2(EYS):c.4470G>A (p.Ser1490=)
NM_001142800.2(EYS):c.4470G>T (p.Ser1490=) rs767213595
NM_001142800.2(EYS):c.4473G>A (p.Met1491Ile)
NM_001142800.2(EYS):c.4477C>A (p.Pro1493Thr) rs2149832076
NM_001142800.2(EYS):c.4482T>A (p.Ile1494=)
NM_001142800.2(EYS):c.4495G>A (p.Val1499Ile)
NM_001142800.2(EYS):c.4502T>C (p.Ile1501Thr)
NM_001142800.2(EYS):c.450A>G (p.Thr150=) rs2127271277
NM_001142800.2(EYS):c.4510C>G (p.Gln1504Glu)
NM_001142800.2(EYS):c.4515A>G (p.Val1505=)
NM_001142800.2(EYS):c.4518C>G (p.Thr1506=) rs762462334
NM_001142800.2(EYS):c.4523T>G (p.Leu1508Ter)
NM_001142800.2(EYS):c.4527C>T (p.Asn1509=)
NM_001142800.2(EYS):c.4530A>C (p.Ser1510=)
NM_001142800.2(EYS):c.4530A>G (p.Ser1510=) rs1582929801
NM_001142800.2(EYS):c.4530A>T (p.Ser1510=) rs1582929801
NM_001142800.2(EYS):c.4536T>C (p.Ala1512=) rs2149832024
NM_001142800.2(EYS):c.4537C>T (p.Leu1513=)
NM_001142800.2(EYS):c.453T>C (p.Val151=)
NM_001142800.2(EYS):c.4543C>A (p.Arg1515=)
NM_001142800.2(EYS):c.4545G>C (p.Arg1515=)
NM_001142800.2(EYS):c.4545G>T (p.Arg1515=)
NM_001142800.2(EYS):c.454dup (p.Met152fs) rs1766191833
NM_001142800.2(EYS):c.4554A>G (p.Thr1518=)
NM_001142800.2(EYS):c.4557del (p.Ala1520fs) rs768092887
NM_001142800.2(EYS):c.4559C>A (p.Ala1520Asp)
NM_001142800.2(EYS):c.4568C>T (p.Pro1523Leu) rs2149831989
NM_001142800.2(EYS):c.4569C>G (p.Pro1523=)
NM_001142800.2(EYS):c.4579C>T (p.Gln1527Ter) rs1490143139
NM_001142800.2(EYS):c.4594G>C (p.Ala1532Pro) rs2149831967
NM_001142800.2(EYS):c.4598C>T (p.Ser1533Leu) rs1766401076
NM_001142800.2(EYS):c.4603A>C (p.Asn1535His) rs2149831955
NM_001142800.2(EYS):c.4605C>G (p.Asn1535Lys) rs2149831954
NM_001142800.2(EYS):c.4606C>A (p.Gln1536Lys) rs557152369
NM_001142800.2(EYS):c.4606C>T (p.Gln1536Ter) 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.4615dup (p.Thr1539fs)
NM_001142800.2(EYS):c.4620C>T (p.Asn1540=)
NM_001142800.2(EYS):c.4624A>G (p.Lys1542Glu)
NM_001142800.2(EYS):c.4626A>G (p.Lys1542=)
NM_001142800.2(EYS):c.4635T>A (p.Ala1545=) rs1766399245
NM_001142800.2(EYS):c.4639G>T (p.Asp1547Tyr) rs2149831943
NM_001142800.2(EYS):c.463G>A (p.Gly155Ser)
NM_001142800.2(EYS):c.4641T>C (p.Asp1547=) rs1766398892
NM_001142800.2(EYS):c.4654T>C (p.Leu1552=)
NM_001142800.2(EYS):c.4655T>G (p.Leu1552Ter) rs1054515897
NM_001142800.2(EYS):c.4660C>G (p.Gln1554Glu)
NM_001142800.2(EYS):c.4665_4666del (p.Ala1557fs)
NM_001142800.2(EYS):c.4674A>T (p.Thr1558=)
NM_001142800.2(EYS):c.4690A>G (p.Ile1564Val)
NM_001142800.2(EYS):c.4698C>G (p.Ser1566=)
NM_001142800.2(EYS):c.4702C>T (p.Arg1568Cys)
NM_001142800.2(EYS):c.4703G>A (p.Arg1568His)
NM_001142800.2(EYS):c.4704T>C (p.Arg1568=) rs2149831899
NM_001142800.2(EYS):c.4706A>G (p.Glu1569Gly) rs2149831897
NM_001142800.2(EYS):c.4707A>T (p.Glu1569Asp)
NM_001142800.2(EYS):c.4717C>G (p.Gln1573Glu)
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.4728T>C (p.His1576=)
NM_001142800.2(EYS):c.4734A>G (p.Lys1578=)
NM_001142800.2(EYS):c.4736A>T (p.Gln1579Leu) rs940478851
NM_001142800.2(EYS):c.4739C>T (p.Ser1580Phe) rs1766393484
NM_001142800.2(EYS):c.473C>T (p.Pro158Leu)
NM_001142800.2(EYS):c.4747T>C (p.Tyr1583His)
NM_001142800.2(EYS):c.4755A>T (p.Thr1585=)
NM_001142800.2(EYS):c.4759T>C (p.Trp1587Arg)
NM_001142800.2(EYS):c.4760G>A (p.Trp1587Ter) rs2149831862
NM_001142800.2(EYS):c.4761del (p.Phe1586_Trp1587insTer)
NM_001142800.2(EYS):c.4766A>T (p.Asn1589Ile)
NM_001142800.2(EYS):c.4767C>T (p.Asn1589=)
NM_001142800.2(EYS):c.4770A>G (p.Ser1590=) rs2149831853
NM_001142800.2(EYS):c.4776_4779del (p.Ile1592fs)
NM_001142800.2(EYS):c.4788G>A (p.Trp1596Ter)
NM_001142800.2(EYS):c.478C>G (p.Pro160Ala)
NM_001142800.2(EYS):c.478_479delinsTT (p.Pro160Leu) rs2127271211
NM_001142800.2(EYS):c.4802G>C (p.Gly1601Ala)
NM_001142800.2(EYS):c.4806T>C (p.Ala1602=) rs1582929404
NM_001142800.2(EYS):c.4809A>G (p.Gln1603=)
NM_001142800.2(EYS):c.480A>C (p.Pro160=) rs1766190002
NM_001142800.2(EYS):c.4813_4814delinsGC (p.Ile1605Ala) rs2149831817
NM_001142800.2(EYS):c.4815C>T (p.Ile1605=) rs2149831812
NM_001142800.2(EYS):c.4817C>A (p.Thr1606Asn) rs1582929370
NM_001142800.2(EYS):c.4824G>A (p.Gly1608=) rs1766390148
NM_001142800.2(EYS):c.4827T>C (p.His1609=) rs2149831801
NM_001142800.2(EYS):c.4829_4832del (p.Ser1610fs) rs886044304
NM_001142800.2(EYS):c.4836T>C (p.Ser1612=) rs1722273708
NM_001142800.2(EYS):c.483G>A (p.Leu161=) rs748763208
NM_001142800.2(EYS):c.483G>T (p.Leu161=) rs748763208
NM_001142800.2(EYS):c.4841_4863del (p.Ala1614fs) rs2149831757
NM_001142800.2(EYS):c.4849A>G (p.Ile1617Val) rs551487472
NM_001142800.2(EYS):c.4853C>A (p.Thr1618Lys) rs1380829897
NM_001142800.2(EYS):c.4859_4862del (p.Ser1620fs) rs1242324755
NM_001142800.2(EYS):c.4862T>A (p.Val1621Glu) rs2149831762
NM_001142800.2(EYS):c.4867T>A (p.Phe1623Ile)
NM_001142800.2(EYS):c.4878G>T (p.Val1626=)
NM_001142800.2(EYS):c.4880C>T (p.Pro1627Leu)
NM_001142800.2(EYS):c.4881A>G (p.Pro1627=) rs1181834932
NM_001142800.2(EYS):c.4883C>T (p.Ser1628Phe) rs1204019770
NM_001142800.2(EYS):c.4897A>G (p.Lys1633Glu)
NM_001142800.2(EYS):c.48C>T (p.Ser16=)
NM_001142800.2(EYS):c.4902G>A (p.Lys1634=) rs2149831717
NM_001142800.2(EYS):c.4905T>C (p.Ser1635=) rs1766387542
NM_001142800.2(EYS):c.4908A>G (p.Ala1636=) rs1582929196
NM_001142800.2(EYS):c.4908A>T (p.Ala1636=) rs1582929196
NM_001142800.2(EYS):c.4914A>G (p.Arg1638=)
NM_001142800.2(EYS):c.4927T>G (p.Ser1643Ala)
NM_001142800.2(EYS):c.492_499del (p.Leu165fs) rs1270977202
NM_001142800.2(EYS):c.4935G>A (p.Leu1645=)
NM_001142800.2(EYS):c.4941A>C (p.Glu1647Asp) rs1361251812
NM_001142800.2(EYS):c.4943C>A (p.Ser1648Tyr)
NM_001142800.2(EYS):c.4950C>T (p.Thr1650=)
NM_001142800.2(EYS):c.4951C>T (p.Leu1651=) rs1766386079
NM_001142800.2(EYS):c.4951del (p.Leu1651fs)
NM_001142800.2(EYS):c.4953A>G (p.Leu1651=)
NM_001142800.2(EYS):c.4953A>T (p.Leu1651=) rs1409807397
NM_001142800.2(EYS):c.4955C>A (p.Ser1652Ter) rs909730457
NM_001142800.2(EYS):c.4955C>T (p.Ser1652Leu) rs909730457
NM_001142800.2(EYS):c.4957A>C (p.Ser1653Arg) rs1182227113
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs) rs527236065
NM_001142800.2(EYS):c.4967A>G (p.Asp1656Gly)
NM_001142800.2(EYS):c.4968T>C (p.Asp1656=) rs2149831653
NM_001142800.2(EYS):c.4971T>A (p.Val1657=)
NM_001142800.2(EYS):c.4971T>C (p.Val1657=)
NM_001142800.2(EYS):c.4972A>G (p.Asn1658Asp) rs1766385108
NM_001142800.2(EYS):c.4975T>C (p.Leu1659=)
NM_001142800.2(EYS):c.4976T>A (p.Leu1659Ter)
NM_001142800.2(EYS):c.4976T>G (p.Leu1659Ter)
NM_001142800.2(EYS):c.4977A>G (p.Leu1659=)
NM_001142800.2(EYS):c.4985A>G (p.Asp1662Gly)
NM_001142800.2(EYS):c.4987_4990dup (p.Thr1664fs)
NM_001142800.2(EYS):c.4989G>A (p.Lys1663=)
NM_001142800.2(EYS):c.498T>C (p.Asn166=)
NM_001142800.2(EYS):c.4992T>G (p.Thr1664=) rs2149831622
NM_001142800.2(EYS):c.4997del (p.Leu1666fs)
NM_001142800.2(EYS):c.4999T>A (p.Ser1667Thr)
NM_001142800.2(EYS):c.5007C>G (p.Val1669=)
NM_001142800.2(EYS):c.5007C>T (p.Val1669=)
NM_001142800.2(EYS):c.500T>A (p.Val167Glu)
NM_001142800.2(EYS):c.5010T>G (p.Pro1670=)
NM_001142800.2(EYS):c.5012C>A (p.Ser1671Ter)
NM_001142800.2(EYS):c.5033T>A (p.Leu1678Ter)
NM_001142800.2(EYS):c.503C>T (p.Thr168Ile) rs1169272650
NM_001142800.2(EYS):c.504A>C (p.Thr168=)
NM_001142800.2(EYS):c.504A>G (p.Thr168=)
NM_001142800.2(EYS):c.5054C>T (p.Ser1685Leu)
NM_001142800.2(EYS):c.5055A>C (p.Ser1685=)
NM_001142800.2(EYS):c.5056A>G (p.Lys1686Glu) rs1562079432
NM_001142800.2(EYS):c.505G>A (p.Val169Met)
NM_001142800.2(EYS):c.5067T>G (p.Thr1689=) rs2149831524
NM_001142800.2(EYS):c.5084C>G (p.Ser1695Ter)
NM_001142800.2(EYS):c.5087A>C (p.Glu1696Ala) rs1766380689
NM_001142800.2(EYS):c.5091C>T (p.Asn1697=)
NM_001142800.2(EYS):c.5106G>A (p.Leu1702=)
NM_001142800.2(EYS):c.5110dup (p.Ile1704fs) rs2149831487
NM_001142800.2(EYS):c.5115A>G (p.Arg1705=)
NM_001142800.2(EYS):c.5116C>A (p.Gln1706Lys)
NM_001142800.2(EYS):c.5118A>G (p.Gln1706=)
NM_001142800.2(EYS):c.5124C>A (p.Gly1708=) rs2149831473
NM_001142800.2(EYS):c.5124C>T (p.Gly1708=)
NM_001142800.2(EYS):c.5128A>T (p.Thr1710Ser) rs947358402
NM_001142800.2(EYS):c.5133G>A (p.Met1711Ile) rs545862713
NM_001142800.2(EYS):c.5139C>A (p.Pro1713=) rs2149831456
NM_001142800.2(EYS):c.513G>A (p.Gln171=)
NM_001142800.2(EYS):c.5141C>T (p.Thr1714Ile) rs1330663195
NM_001142800.2(EYS):c.5143G>A (p.Glu1715Lys) rs2149831446
NM_001142800.2(EYS):c.5145G>T (p.Glu1715Asp)
NM_001142800.2(EYS):c.5148A>G (p.Val1716=)
NM_001142800.2(EYS):c.5149C>T (p.Leu1717=) rs2149831439
NM_001142800.2(EYS):c.5149del (p.Val1716_Leu1717insTer) rs1766378599
NM_001142800.2(EYS):c.5157A>G (p.Gln1719=)
NM_001142800.2(EYS):c.5163C>T (p.Ser1721=) rs1766378243
NM_001142800.2(EYS):c.5168T>A (p.Leu1723Ter)
NM_001142800.2(EYS):c.5170G>A (p.Asp1724Asn)
NM_001142800.2(EYS):c.5172C>T (p.Asp1724=) rs2149831415
NM_001142800.2(EYS):c.5176del (p.Glu1726fs)
NM_001142800.2(EYS):c.5182del (p.Ser1728fs) rs1562079278
NM_001142800.2(EYS):c.5190A>T (p.Gly1730=)
NM_001142800.2(EYS):c.5201T>C (p.Leu1734Pro)
NM_001142800.2(EYS):c.5202G>A (p.Leu1734=)
NM_001142800.2(EYS):c.5202G>C (p.Leu1734=)
NM_001142800.2(EYS):c.5208A>T (p.Lys1736Asn) rs973977663
NM_001142800.2(EYS):c.5223T>C (p.Asp1741=)
NM_001142800.2(EYS):c.5226T>C (p.Ser1742=) rs2149831365
NM_001142800.2(EYS):c.5235T>C (p.Asp1745=)
NM_001142800.2(EYS):c.5238del (p.Phe1746fs)
NM_001142800.2(EYS):c.523C>T (p.Gln175Ter)
NM_001142800.2(EYS):c.5249T>A (p.Leu1750Ter) rs1766374293
NM_001142800.2(EYS):c.5250A>G (p.Leu1750=)
NM_001142800.2(EYS):c.5251C>G (p.Gln1751Glu) rs1766374212
NM_001142800.2(EYS):c.5251C>T (p.Gln1751Ter)
NM_001142800.2(EYS):c.5253A>G (p.Gln1751=)
NM_001142800.2(EYS):c.5256T>C (p.Ile1752=)
NM_001142800.2(EYS):c.525_527del (p.Glu176del) rs780433094
NM_001142800.2(EYS):c.5261C>T (p.Pro1754Leu)
NM_001142800.2(EYS):c.5263G>A (p.Asp1755Asn) rs772953910
NM_001142800.2(EYS):c.526G>T (p.Glu176Ter) rs2127271139
NM_001142800.2(EYS):c.5271T>G (p.Thr1757=) rs2149831315
NM_001142800.2(EYS):c.5272T>C (p.Leu1758=) rs2149831311
NM_001142800.2(EYS):c.5280A>G (p.Thr1760=) rs970771671
NM_001142800.2(EYS):c.5283T>A (p.Tyr1761Ter) rs1158231145
NM_001142800.2(EYS):c.5283T>C (p.Tyr1761=)
NM_001142800.2(EYS):c.5286A>C (p.Ser1762=) rs2149831292
NM_001142800.2(EYS):c.5290dup (p.Ile1764fs) rs761760327
NM_001142800.2(EYS):c.5292T>C (p.Ile1764=)
NM_001142800.2(EYS):c.5293A>G (p.Thr1765Ala)
NM_001142800.2(EYS):c.5296del (p.His1766fs) rs2149831278
NM_001142800.2(EYS):c.5301A>G (p.Ala1767=) rs1255332839
NM_001142800.2(EYS):c.5303del (p.Asn1768fs)
NM_001142800.2(EYS):c.5322G>T (p.Leu1774=)
NM_001142800.2(EYS):c.5328A>G (p.Pro1776=) rs1028791002
NM_001142800.2(EYS):c.5330T>A (p.Leu1777Ter)
NM_001142800.2(EYS):c.5333C>T (p.Thr1778Ile) rs566440637
NM_001142800.2(EYS):c.533dup (p.Ser179fs) rs2127271125
NM_001142800.2(EYS):c.5353dup (p.Ser1785fs)
NM_001142800.2(EYS):c.5354C>T (p.Ser1785Leu) rs1053044454
NM_001142800.2(EYS):c.5356G>A (p.Glu1786Lys)
NM_001142800.2(EYS):c.5363C>T (p.Thr1788Ile)
NM_001142800.2(EYS):c.5364C>T (p.Thr1788=) rs1766369813
NM_001142800.2(EYS):c.5366C>T (p.Thr1789Ile) rs2149831184
NM_001142800.2(EYS):c.5373T>C (p.Val1791=) rs1766369566
NM_001142800.2(EYS):c.5374G>C (p.Ala1792Pro) rs901144230
NM_001142800.2(EYS):c.5383A>G (p.Thr1795Ala)
NM_001142800.2(EYS):c.5385A>G (p.Thr1795=) rs1356724686
NM_001142800.2(EYS):c.5387T>A (p.Val1796Asp)
NM_001142800.2(EYS):c.5388T>C (p.Val1796=)
NM_001142800.2(EYS):c.5397T>G (p.Thr1799=)
NM_001142800.2(EYS):c.5399C>T (p.Pro1800Leu)
NM_001142800.2(EYS):c.53T>C (p.Phe18Ser) rs1766218722
NM_001142800.2(EYS):c.5400A>G (p.Pro1800=)
NM_001142800.2(EYS):c.5401G>A (p.Ala1801Thr) rs751705317
NM_001142800.2(EYS):c.5403A>G (p.Ala1801=)
NM_001142800.2(EYS):c.540A>G (p.Ser180=) rs954692499
NM_001142800.2(EYS):c.5414A>G (p.Gln1805Arg)
NM_001142800.2(EYS):c.5417C>T (p.Thr1806Met)
NM_001142800.2(EYS):c.5417del (p.Thr1806fs)
NM_001142800.2(EYS):c.5424C>T (p.Ser1808=)
NM_001142800.2(EYS):c.5427C>T (p.Ser1809=) rs949145942
NM_001142800.2(EYS):c.5432C>A (p.Ser1811Tyr) rs1766367191
NM_001142800.2(EYS):c.5437A>T (p.Ile1813Phe)
NM_001142800.2(EYS):c.5443C>A (p.Pro1815Thr)
NM_001142800.2(EYS):c.5448T>C (p.Asp1816=)
NM_001142800.2(EYS):c.5450G>A (p.Trp1817Ter) rs983691310
NM_001142800.2(EYS):c.5452C>T (p.Pro1818Ser) rs1316942078
NM_001142800.2(EYS):c.5453C>T (p.Pro1818Leu) rs2149831083
NM_001142800.2(EYS):c.5475C>T (p.Thr1825=)
NM_001142800.2(EYS):c.5478T>C (p.Ser1826=) rs2149831056
NM_001142800.2(EYS):c.5479C>G (p.Leu1827Val) rs746509889
NM_001142800.2(EYS):c.548G>T (p.Cys183Phe) rs1766186534
NM_001142800.2(EYS):c.5490G>A (p.Glu1830=)
NM_001142800.2(EYS):c.5492T>C (p.Val1831Ala)
NM_001142800.2(EYS):c.549_558dup (p.Gly187fs)
NM_001142800.2(EYS):c.54C>T (p.Phe18=) rs1031123649
NM_001142800.2(EYS):c.5504C>T (p.Ser1835Leu)
NM_001142800.2(EYS):c.5505A>G (p.Ser1835=)
NM_001142800.2(EYS):c.5506G>A (p.Glu1836Lys) rs1478427973
NM_001142800.2(EYS):c.5506G>C (p.Glu1836Gln)
NM_001142800.2(EYS):c.5508A>G (p.Glu1836=) rs2149831020
NM_001142800.2(EYS):c.5510G>A (p.Trp1837Ter)
NM_001142800.2(EYS):c.5520G>A (p.Trp1840Ter) rs2149831000
NM_001142800.2(EYS):c.5527C>T (p.Gln1843Ter) rs2149830992
NM_001142800.2(EYS):c.5530_5534dup (p.Val1846fs) rs1405016852
NM_001142800.2(EYS):c.5534del (p.Ser1845fs)
NM_001142800.2(EYS):c.5541A>G (p.Gln1847=)
NM_001142800.2(EYS):c.5547G>A (p.Gln1849=)
NM_001142800.2(EYS):c.5554C>G (p.Pro1852Ala) rs1766362938
NM_001142800.2(EYS):c.5556C>A (p.Pro1852=)
NM_001142800.2(EYS):c.555T>C (p.Gly185=) rs1766186245
NM_001142800.2(EYS):c.5565C>T (p.Ser1855=) rs2149830961
NM_001142800.2(EYS):c.5568G>T (p.Arg1856=) rs1016126628
NM_001142800.2(EYS):c.5574T>C (p.Leu1858=)
NM_001142800.2(EYS):c.5575C>A (p.Pro1859Thr)
NM_001142800.2(EYS):c.5580C>T (p.Phe1860=)
NM_001142800.2(EYS):c.5583T>C (p.Thr1861=)
NM_001142800.2(EYS):c.5583T>G (p.Thr1861=)
NM_001142800.2(EYS):c.5584_5587dup (p.Ser1863Ter)
NM_001142800.2(EYS):c.5595T>C (p.Thr1865=)
NM_001142800.2(EYS):c.559G>A (p.Gly187Ser) rs779319928
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.5601T>A (p.Ser1867=) rs182322608
NM_001142800.2(EYS):c.5613C>T (p.Ser1871=)
NM_001142800.2(EYS):c.5614A>G (p.Ile1872Val)
NM_001142800.2(EYS):c.5616T>A (p.Ile1872=) rs2149830919
NM_001142800.2(EYS):c.5623C>T (p.Pro1875Ser) rs2149830908
NM_001142800.2(EYS):c.5630G>A (p.Arg1877Gln) rs780006257
NM_001142800.2(EYS):c.5632C>T (p.Leu1878=)
NM_001142800.2(EYS):c.5640T>A (p.Ile1880=) rs2149830876
NM_001142800.2(EYS):c.5645-10G>A
NM_001142800.2(EYS):c.5645-15T>C
NM_001142800.2(EYS):c.5645-1G>A
NM_001142800.2(EYS):c.5645-3C>T rs2150466528
NM_001142800.2(EYS):c.5645-5C>T rs1003975346
NM_001142800.2(EYS):c.5645-6C>A
NM_001142800.2(EYS):c.5646T>C (p.Asp1882=)
NM_001142800.2(EYS):c.5658T>C (p.Val1886=) rs930926553
NM_001142800.2(EYS):c.5661_5662insAA (p.Tyr1888fs) rs2150466512
NM_001142800.2(EYS):c.5665del (p.Tyr1889fs)
NM_001142800.2(EYS):c.5667T>C (p.Tyr1889=)
NM_001142800.2(EYS):c.5670A>G (p.Gly1890=) rs2150466493
NM_001142800.2(EYS):c.5672A>T (p.Asp1891Val)
NM_001142800.2(EYS):c.5673T>C (p.Asp1891=) rs1400731311
NM_001142800.2(EYS):c.5676T>C (p.Ser1892=) rs2150466486
NM_001142800.2(EYS):c.5677_5681del (p.Tyr1893fs)
NM_001142800.2(EYS):c.5682A>G (p.Leu1894=)
NM_001142800.2(EYS):c.5683G>T (p.Glu1895Ter)
NM_001142800.2(EYS):c.5693A>G (p.Asn1898Ser)
NM_001142800.2(EYS):c.5694T>C (p.Asn1898=) rs981456641
NM_001142800.2(EYS):c.5696T>A (p.Val1899Glu)
NM_001142800.2(EYS):c.5697G>T (p.Val1899=) rs2150466459
NM_001142800.2(EYS):c.569T>A (p.Leu190His)
NM_001142800.2(EYS):c.569T>C (p.Leu190Pro)
NM_001142800.2(EYS):c.5700T>C (p.Ala1900=)
NM_001142800.2(EYS):c.5714A>G (p.Asn1905Ser)
NM_001142800.2(EYS):c.5718C>T (p.Asn1906=) rs2150466437
NM_001142800.2(EYS):c.571dup (p.Ser191fs) rs2127271080
NM_001142800.2(EYS):c.5721C>T (p.Ile1907=) rs757476351
NM_001142800.2(EYS):c.5723C>A (p.Ser1908Tyr) rs2150466427
NM_001142800.2(EYS):c.5724C>T (p.Ser1908=)
NM_001142800.2(EYS):c.5730A>G (p.Glu1910=) rs2150466419
NM_001142800.2(EYS):c.5734C>T (p.Gln1912Ter)
NM_001142800.2(EYS):c.5739C>T (p.Thr1913=)
NM_001142800.2(EYS):c.5744G>C (p.Ser1915Thr) rs1774855257
NM_001142800.2(EYS):c.5747C>T (p.Ser1916Phe)
NM_001142800.2(EYS):c.5748del (p.Tyr1917fs) rs1774855104
NM_001142800.2(EYS):c.5750A>G (p.Tyr1917Cys)
NM_001142800.2(EYS):c.5751T>A (p.Tyr1917Ter)
NM_001142800.2(EYS):c.5758C>T (p.Leu1920=)
NM_001142800.2(EYS):c.5760G>T (p.Leu1920=)
NM_001142800.2(EYS):c.5761C>T (p.Leu1921=)
NM_001142800.2(EYS):c.5769C>A (p.Val1923=)
NM_001142800.2(EYS):c.5769C>T (p.Val1923=)
NM_001142800.2(EYS):c.5778C>T (p.Asp1926=)
NM_001142800.2(EYS):c.5781A>C (p.Ser1927=)
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.5787A>C (p.Leu1929Phe) rs2150466343
NM_001142800.2(EYS):c.5788G>A (p.Val1930Ile) rs2150466341
NM_001142800.2(EYS):c.578C>G (p.Ala193Gly)
NM_001142800.2(EYS):c.5790A>G (p.Val1930=)
NM_001142800.2(EYS):c.5793T>A (p.Asp1931Glu) rs1774853217
NM_001142800.2(EYS):c.5793T>C (p.Asp1931=)
NM_001142800.2(EYS):c.5794G>A (p.Gly1932Arg) rs1319912217
NM_001142800.2(EYS):c.5796A>T (p.Gly1932=)
NM_001142800.2(EYS):c.5802dup (p.Ile1935fs) rs1455826633
NM_001142800.2(EYS):c.5810T>G (p.Leu1937Trp) rs1774852530
NM_001142800.2(EYS):c.5811G>A (p.Leu1937=) rs746179904
NM_001142800.2(EYS):c.5815A>T (p.Ile1939Phe) rs2150466312
NM_001142800.2(EYS):c.5818G>C (p.Glu1940Gln) rs955143854
NM_001142800.2(EYS):c.5825G>T (p.Gly1942Val)
NM_001142800.2(EYS):c.5834_5835+4del rs1582753394
NM_001142800.2(EYS):c.5834del (p.Lys1945fs) rs774455587
NM_001142800.2(EYS):c.5835+12A>T
NM_001142800.2(EYS):c.5835+13G>T
NM_001142800.2(EYS):c.5835+14T>C
NM_001142800.2(EYS):c.5835+16C>A rs1774851271
NM_001142800.2(EYS):c.5835+19T>G
NM_001142800.2(EYS):c.5835+1G>T rs1774851704
NM_001142800.2(EYS):c.5835+8A>G
NM_001142800.2(EYS):c.5836-11T>C
NM_001142800.2(EYS):c.5836-11del
NM_001142800.2(EYS):c.5836-15T>A
NM_001142800.2(EYS):c.5836-16T>A
NM_001142800.2(EYS):c.5836-17A>G rs530685623
NM_001142800.2(EYS):c.5836-17A>T
NM_001142800.2(EYS):c.5836-19A>G
NM_001142800.2(EYS):c.5836-1G>A rs2150463984
NM_001142800.2(EYS):c.5836-1G>C rs2150463984
NM_001142800.2(EYS):c.5836-2del rs2150463985
NM_001142800.2(EYS):c.5836-3C>A
NM_001142800.2(EYS):c.5836-5A>G rs2150463991
NM_001142800.2(EYS):c.5836-9C>A
NM_001142800.2(EYS):c.5838C>A (p.Tyr1946Ter)
NM_001142800.2(EYS):c.5839C>T (p.His1947Tyr) rs1774743807
NM_001142800.2(EYS):c.5841del (p.Tyr1949fs)
NM_001142800.2(EYS):c.5845T>C (p.Tyr1949His)
NM_001142800.2(EYS):c.5847C>T (p.Tyr1949=)
NM_001142800.2(EYS):c.5853T>C (p.Pro1951=) rs1774743401
NM_001142800.2(EYS):c.5853T>G (p.Pro1951=)
NM_001142800.2(EYS):c.5857G>A (p.Glu1953Lys)
NM_001142800.2(EYS):c.585C>G (p.Ser195Arg)
NM_001142800.2(EYS):c.585C>T (p.Ser195=)
NM_001142800.2(EYS):c.5861C>T (p.Ala1954Val) rs1774743043
NM_001142800.2(EYS):c.5862A>G (p.Ala1954=)
NM_001142800.2(EYS):c.5874C>G (p.Ser1958Arg) rs1774742459
NM_001142800.2(EYS):c.5877T>C (p.Ile1959=)
NM_001142800.2(EYS):c.5883T>C (p.Thr1961=) rs779530881
NM_001142800.2(EYS):c.5895G>C (p.Val1965=) rs1774741756
NM_001142800.2(EYS):c.5898C>T (p.Asp1966=) rs2150463923
NM_001142800.2(EYS):c.5907A>G (p.Gln1969=)
NM_001142800.2(EYS):c.5916dup (p.Leu1973fs) rs1774741085
NM_001142800.2(EYS):c.591A>G (p.Thr197=) rs1373716354
NM_001142800.2(EYS):c.5922T>C (p.Leu1974=)
NM_001142800.2(EYS):c.5927+12A>G
NM_001142800.2(EYS):c.5927+16C>A
NM_001142800.2(EYS):c.5927+1G>A
NM_001142800.2(EYS):c.5927+20del
NM_001142800.2(EYS):c.5927+5G>C
NM_001142800.2(EYS):c.5927+8A>G rs1774740606
NM_001142800.2(EYS):c.5927G>C (p.Arg1976Thr) rs2150463897
NM_001142800.2(EYS):c.5928-13T>G
NM_001142800.2(EYS):c.5928-18T>C
NM_001142800.2(EYS):c.5928-19C>A
NM_001142800.2(EYS):c.5928-3C>T
NM_001142800.2(EYS):c.5928-3_5928-1del rs1554152094
NM_001142800.2(EYS):c.5928-7G>T rs1298069575
NM_001142800.2(EYS):c.5928-8G>T rs1339309007
NM_001142800.2(EYS):c.5928-9T>C
NM_001142800.2(EYS):c.592T>G (p.Tyr198Asp)
NM_001142800.2(EYS):c.5934A>G (p.Glu1978=)
NM_001142800.2(EYS):c.5943A>G (p.Pro1981=)
NM_001142800.2(EYS):c.5944T>C (p.Cys1982Arg)
NM_001142800.2(EYS):c.5945G>T (p.Cys1982Phe)
NM_001142800.2(EYS):c.5956C>T (p.Leu1986=) rs2150425054
NM_001142800.2(EYS):c.5958G>A (p.Leu1986=) rs2150425049
NM_001142800.2(EYS):c.5958_5961del (p.Thr1987fs) rs1561965266
NM_001142800.2(EYS):c.5964T>C (p.Ile1988=)
NM_001142800.2(EYS):c.5970G>A (p.Gly1990=) rs2150425033
NM_001142800.2(EYS):c.5980C>T (p.Gln1994Ter)
NM_001142800.2(EYS):c.5989G>A (p.Glu1997Lys)
NM_001142800.2(EYS):c.5990A>T (p.Glu1997Val) rs1772996635
NM_001142800.2(EYS):c.5997C>T (p.Ile1999=) rs2150425006
NM_001142800.2(EYS):c.6003T>G (p.His2001Gln) rs1168554087
NM_001142800.2(EYS):c.6009C>A (p.Leu2003=)
NM_001142800.2(EYS):c.6015A>G (p.Lys2005=)
NM_001142800.2(EYS):c.6016C>T (p.Pro2006Ser)
NM_001142800.2(EYS):c.6024A>G (p.Pro2008=)
NM_001142800.2(EYS):c.6025A>C (p.Lys2009Gln)
NM_001142800.2(EYS):c.6029C>G (p.Ser2010Ter)
NM_001142800.2(EYS):c.602A>G (p.His201Arg) rs1011260787
NM_001142800.2(EYS):c.6032dup (p.Ser2012fs)
NM_001142800.2(EYS):c.6035C>T (p.Ser2012Phe)
NM_001142800.2(EYS):c.6039C>G (p.Val2013=)
NM_001142800.2(EYS):c.6039C>T (p.Val2013=)
NM_001142800.2(EYS):c.6050G>A (p.Gly2017Glu)
NM_001142800.2(EYS):c.6051A>G (p.Gly2017=)
NM_001142800.2(EYS):c.6060C>T (p.Asp2020=) rs1427608537
NM_001142800.2(EYS):c.6061C>T (p.Leu2021Phe) rs2150424923
NM_001142800.2(EYS):c.6064_6065dup (p.Gly2023fs) rs2150424909
NM_001142800.2(EYS):c.6066T>G (p.His2022Gln)
NM_001142800.2(EYS):c.6069G>C (p.Gly2023=)
NM_001142800.2(EYS):c.606C>A (p.Cys202Ter) rs149741810
NM_001142800.2(EYS):c.6073dup (p.Ile2025fs) rs2150424894
NM_001142800.2(EYS):c.6075C>T (p.Ile2025=)
NM_001142800.2(EYS):c.6078+11A>G
NM_001142800.2(EYS):c.6078+12G>A
NM_001142800.2(EYS):c.6078+14T>A
NM_001142800.2(EYS):c.6078+15G>T rs1165113175
NM_001142800.2(EYS):c.6078+17T>C
NM_001142800.2(EYS):c.6078+18T>C
NM_001142800.2(EYS):c.6078+3A>G rs1400181347
NM_001142800.2(EYS):c.6078+9A>T rs1172112238
NM_001142800.2(EYS):c.6078G>C (p.Gln2026His) rs2150424888
NM_001142800.2(EYS):c.6078G>T (p.Gln2026His)
NM_001142800.2(EYS):c.6079-13C>T rs977636304
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[13] rs35395170
NM_001142800.2(EYS):c.6079-24TC[15]
NM_001142800.2(EYS):c.6079-24TC[5] rs35395170
NM_001142800.2(EYS):c.6079-24TC[6] rs35395170
NM_001142800.2(EYS):c.6079-24TC[7] rs35395170
NM_001142800.2(EYS):c.6079-24TC[8] rs35395170
NM_001142800.2(EYS):c.6079-24TC[9] rs35395170
NM_001142800.2(EYS):c.6079-2A>G
NM_001142800.2(EYS):c.6079-6T>C rs1769481251
NM_001142800.2(EYS):c.6079-7C>G rs1338965230
NM_001142800.2(EYS):c.6079-7C>T rs1338965230
NM_001142800.2(EYS):c.6079-8T>C
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.6090A>G (p.Pro2030=) rs1306447888
NM_001142800.2(EYS):c.6099T>C (p.Asn2033=)
NM_001142800.2(EYS):c.6102del (p.Phe2034fs) rs1582571021
NM_001142800.2(EYS):c.6102dup (p.Thr2035fs) rs1582571021
NM_001142800.2(EYS):c.6104C>T (p.Thr2035Ile)
NM_001142800.2(EYS):c.6108C>T (p.Gly2036=) rs1408475124
NM_001142800.2(EYS):c.6110G>A (p.Cys2037Tyr)
NM_001142800.2(EYS):c.6110G>T (p.Cys2037Phe) rs1334628225
NM_001142800.2(EYS):c.612T>C (p.Pro204=) rs1766182031
NM_001142800.2(EYS):c.6131_6134del (p.Asn2044fs) rs2150375968
NM_001142800.2(EYS):c.6132T>C (p.Asn2044=) rs2150375971
NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter) rs878853350
NM_001142800.2(EYS):c.6139A>T (p.Arg2047Ter) rs1769476342
NM_001142800.2(EYS):c.613C>T (p.Pro205Ser) rs1554202833
NM_001142800.2(EYS):c.6150T>A (p.Ile2050=)
NM_001142800.2(EYS):c.6159G>A (p.Lys2053=)
NM_001142800.2(EYS):c.615A>G (p.Pro205=) rs2127270987
NM_001142800.2(EYS):c.615_616delinsCC (p.Phe206Leu) rs2127270983
NM_001142800.2(EYS):c.6160G>C (p.Ala2054Pro)
NM_001142800.2(EYS):c.6162A>G (p.Ala2054=) rs1164261609
NM_001142800.2(EYS):c.6165G>A (p.Val2055=)
NM_001142800.2(EYS):c.6170A>G (p.Asn2057Ser) rs2150375946
NM_001142800.2(EYS):c.6170del (p.Asn2057fs) rs1769471435
NM_001142800.2(EYS):c.6171C>T (p.Asn2057=) rs1769471328
NM_001142800.2(EYS):c.6174T>C (p.Tyr2058=)
NM_001142800.2(EYS):c.6174T>G (p.Tyr2058Ter) rs1769471082
NM_001142800.2(EYS):c.6186T>C (p.Asn2062=) rs1446982295
NM_001142800.2(EYS):c.618T>C (p.Phe206=) rs1434610674
NM_001142800.2(EYS):c.618_619del (p.Ser207fs) rs2127270969
NM_001142800.2(EYS):c.6191+13T>A rs2150375915
NM_001142800.2(EYS):c.6191+8A>C
NM_001142800.2(EYS):c.6191+9G>C
NM_001142800.2(EYS):c.6192-10T>C
NM_001142800.2(EYS):c.6192-14T>C
NM_001142800.2(EYS):c.6192-17C>T
NM_001142800.2(EYS):c.6192-18T>C
NM_001142800.2(EYS):c.6192-1G>A
NM_001142800.2(EYS):c.6192-4A>G
NM_001142800.2(EYS):c.6192-6T>A
NM_001142800.2(EYS):c.6192-6T>C rs1315198670
NM_001142800.2(EYS):c.6192-7A>C
NM_001142800.2(EYS):c.6192-9A>C rs2150338068
NM_001142800.2(EYS):c.6196del (p.Gln2066fs)
NM_001142800.2(EYS):c.6197A>G (p.Gln2066Arg)
NM_001142800.2(EYS):c.6204T>C (p.Phe2068=) rs185371095
NM_001142800.2(EYS):c.6210G>A (p.Leu2070=)
NM_001142800.2(EYS):c.6213T>C (p.Ser2071=)
NM_001142800.2(EYS):c.6214C>G (p.Pro2072Ala) rs1766405253
NM_001142800.2(EYS):c.6229G>A (p.Val2077Ile) rs1214579712
NM_001142800.2(EYS):c.6229_6238del (p.Val2077fs) rs1554220416
NM_001142800.2(EYS):c.6240T>C (p.Ser2080=)
NM_001142800.2(EYS):c.6249A>C (p.Thr2083=) rs1005939398
NM_001142800.2(EYS):c.6255G>A (p.Gly2085=)
NM_001142800.2(EYS):c.6258T>A (p.Val2086=)
NM_001142800.2(EYS):c.6269G>A (p.Trp2090Ter) rs1562263385
NM_001142800.2(EYS):c.6270G>A (p.Trp2090Ter)
NM_001142800.2(EYS):c.6276T>C (p.Ser2092=)
NM_001142800.2(EYS):c.6281G>A (p.Ser2094Asn) rs2150338023
NM_001142800.2(EYS):c.6282C>T (p.Ser2094=)
NM_001142800.2(EYS):c.6285C>T (p.Pro2095=)
NM_001142800.2(EYS):c.6287_6288del (p.Ser2096fs) rs2150338009
NM_001142800.2(EYS):c.6289G>A (p.Val2097Ile)
NM_001142800.2(EYS):c.6289G>C (p.Val2097Leu)
NM_001142800.2(EYS):c.6294A>C (p.Ala2098=)
NM_001142800.2(EYS):c.6296C>T (p.Ala2099Val) rs2150337999
NM_001142800.2(EYS):c.6302C>G (p.Ser2101Cys)
NM_001142800.2(EYS):c.6306G>A (p.Val2102=) rs1766401358
NM_001142800.2(EYS):c.630C>A (p.Tyr210Ter) rs1469481918
NM_001142800.2(EYS):c.6313C>T (p.Gln2105Ter) rs1188834464
NM_001142800.2(EYS):c.6321A>G (p.Val2107=)
NM_001142800.2(EYS):c.6322T>C (p.Cys2108Arg) rs1766400182
NM_001142800.2(EYS):c.6324C>A (p.Cys2108Ter) rs1469992138
NM_001142800.2(EYS):c.6330T>C (p.Asn2110=) rs2150337969
NM_001142800.2(EYS):c.6335G>A (p.Gly2112Asp)
NM_001142800.2(EYS):c.6344A>C (p.His2115Pro) rs1046447869
NM_001142800.2(EYS):c.6345T>C (p.His2115=)
NM_001142800.2(EYS):c.6346G>T (p.Ala2116Ser) rs781499990
NM_001142800.2(EYS):c.6351C>T (p.Ile2117=)
NM_001142800.2(EYS):c.6357C>T (p.Leu2119=) rs2150337956
NM_001142800.2(EYS):c.6363T>C (p.Ser2121=) rs2150337947
NM_001142800.2(EYS):c.6369_6376dup (p.Phe2126Ter) rs1766397905
NM_001142800.2(EYS):c.636G>A (p.Gln212=) rs2127270946
NM_001142800.2(EYS):c.6371T>G (p.Val2124Gly)
NM_001142800.2(EYS):c.6372G>A (p.Val2124=) rs1283422719
NM_001142800.2(EYS):c.637_643del (p.Glu213fs) rs1285201633
NM_001142800.2(EYS):c.6381_6393del (p.Gln2127fs) rs2150337928
NM_001142800.2(EYS):c.6382T>C (p.Cys2128Arg)
NM_001142800.2(EYS):c.6383G>A (p.Cys2128Tyr) rs942815164
NM_001142800.2(EYS):c.6389G>C (p.Cys2130Ser)
NM_001142800.2(EYS):c.6390T>C (p.Cys2130=)
NM_001142800.2(EYS):c.6396A>G (p.Leu2132=)
NM_001142800.2(EYS):c.6404_6415del (p.Thr2135_Cys2139delinsSer)
NM_001142800.2(EYS):c.6405T>C (p.Thr2135=)
NM_001142800.2(EYS):c.6414C>T (p.Phe2138=)
NM_001142800.2(EYS):c.6415T>C (p.Cys2139Arg) rs1378663182
NM_001142800.2(EYS):c.6424+18C>T
NM_001142800.2(EYS):c.6424+1G>A
NM_001142800.2(EYS):c.6424+2T>C
NM_001142800.2(EYS):c.6425-10T>C rs2149869130
NM_001142800.2(EYS):c.6425-13T>C
NM_001142800.2(EYS):c.6425-15C>G
NM_001142800.2(EYS):c.6425-15C>T
NM_001142800.2(EYS):c.6425-15_6425-11dup
NM_001142800.2(EYS):c.6425-15del
NM_001142800.2(EYS):c.6425-16C>T
NM_001142800.2(EYS):c.6425-19A>G
NM_001142800.2(EYS):c.6425-6T>C rs2149869128
NM_001142800.2(EYS):c.6425-7T>G
NM_001142800.2(EYS):c.6425-8T>C
NM_001142800.2(EYS):c.6425-9C>A
NM_001142800.2(EYS):c.6438C>A (p.Phe2146Leu) rs578167289
NM_001142800.2(EYS):c.6442C>A (p.Pro2148Thr)
NM_001142800.2(EYS):c.6444A>G (p.Pro2148=) rs556671009
NM_001142800.2(EYS):c.6448T>C (p.Phe2150Leu)
NM_001142800.2(EYS):c.6451A>G (p.Asn2151Asp)
NM_001142800.2(EYS):c.6456G>A (p.Gly2152=)
NM_001142800.2(EYS):c.6462C>T (p.Ser2154=) rs2149869076
NM_001142800.2(EYS):c.6466T>C (p.Leu2156=)
NM_001142800.2(EYS):c.6469G>C (p.Glu2157Gln) rs2149869071
NM_001142800.2(EYS):c.6469G>T (p.Glu2157Ter)
NM_001142800.2(EYS):c.6471A>G (p.Glu2157=)
NM_001142800.2(EYS):c.6472C>T (p.Leu2158=) rs1771988039
NM_001142800.2(EYS):c.6474G>T (p.Leu2158=) rs1383513366
NM_001142800.2(EYS):c.6476C>G (p.Pro2159Arg)
NM_001142800.2(EYS):c.6477C>G (p.Pro2159=) rs1771987390
NM_001142800.2(EYS):c.6482_6483insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAGAACTGCCCTTTTT (p.Phe2160_Leu2161insPhePhePhePhePhePhePheXaaXaaXaaXaaProLysThrIleLysThrLeuGluGluAsnLeuGlyIleThrIleGlnAspIleGlyValGlyLysAspPheMetSerLysThrProLysAlaMetAlaThrGluLeuProPhe)
NM_001142800.2(EYS):c.6483G>A (p.Leu2161=) rs2149869044
NM_001142800.2(EYS):c.6485dup (p.Phe2163fs)
NM_001142800.2(EYS):c.6489T>C (p.Phe2163=) rs1771986869
NM_001142800.2(EYS):c.648A>G (p.Ala216=)
NM_001142800.2(EYS):c.6491T>C (p.Val2164Ala)
NM_001142800.2(EYS):c.6493C>T (p.Leu2165=)
NM_001142800.2(EYS):c.6497A>G (p.Glu2166Gly)
NM_001142800.2(EYS):c.6501_6502del (p.Glu2168fs)
NM_001142800.2(EYS):c.6504A>G (p.Glu2168=)
NM_001142800.2(EYS):c.6506del (p.His2169fs)
NM_001142800.2(EYS):c.6512G>A (p.Arg2171Lys)
NM_001142800.2(EYS):c.6519T>C (p.Val2173=) rs1486729746
NM_001142800.2(EYS):c.6523A>G (p.Ile2175Val) rs1771984821
NM_001142800.2(EYS):c.6531G>C (p.Leu2177Phe)
NM_001142800.2(EYS):c.6543A>G (p.Thr2181=) rs1771983544
NM_001142800.2(EYS):c.6546C>T (p.Asn2182=)
NM_001142800.2(EYS):c.6552_6553insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAACAAACAGTTTA (p.Asn2185delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer)
NM_001142800.2(EYS):c.6557G>C (p.Gly2186Ala)
NM_001142800.2(EYS):c.6571+12A>G
NM_001142800.2(EYS):c.6571+18G>A
NM_001142800.2(EYS):c.6571+6T>C rs1582241382
NM_001142800.2(EYS):c.6571+7A>T
NM_001142800.2(EYS):c.6571+7_6571+15del
NM_001142800.2(EYS):c.6571+8T>G
NM_001142800.2(EYS):c.6572-10T>C
NM_001142800.2(EYS):c.6572-15_6572-13del
NM_001142800.2(EYS):c.6572-15_6572-14del
NM_001142800.2(EYS):c.6572-17T>G
NM_001142800.2(EYS):c.6572-2A>C rs1771378101
NM_001142800.2(EYS):c.6572-7dup
NM_001142800.2(EYS):c.6572-8del
NM_001142800.2(EYS):c.6572-8dup rs1370853057
NM_001142800.2(EYS):c.6575A>T (p.Asn2192Ile) rs750904267
NM_001142800.2(EYS):c.6576T>C (p.Asn2192=)
NM_001142800.2(EYS):c.6579G>A (p.Gly2193=) rs796407743
NM_001142800.2(EYS):c.6579G>C (p.Gly2193=) rs796407743
NM_001142800.2(EYS):c.657T>C (p.Phe219=) rs2127270900
NM_001142800.2(EYS):c.6587G>A (p.Cys2196Tyr)
NM_001142800.2(EYS):c.6589G>A (p.Gly2197Arg)
NM_001142800.2(EYS):c.6597G>A (p.Gln2199=)
NM_001142800.2(EYS):c.6600T>C (p.Phe2200=) rs2149855762
NM_001142800.2(EYS):c.6602T>C (p.Leu2201Pro) rs2149855751
NM_001142800.2(EYS):c.6604_6608del (p.His2202fs)
NM_001142800.2(EYS):c.6605_6613del (p.His2202_Phe2204del) rs1771374961
NM_001142800.2(EYS):c.6609A>G (p.Leu2203=)
NM_001142800.2(EYS):c.6613C>T (p.Leu2205Phe)
NM_001142800.2(EYS):c.6615T>G (p.Leu2205=) rs1451723432
NM_001142800.2(EYS):c.6618G>C (p.Val2206=) rs2149855731
NM_001142800.2(EYS):c.6624A>G (p.Gly2208=)
NM_001142800.2(EYS):c.6634G>C (p.Val2212Leu)
NM_001142800.2(EYS):c.6637A>T (p.Lys2213Ter)
NM_001142800.2(EYS):c.6645G>A (p.Gly2215=)
NM_001142800.2(EYS):c.6645G>C (p.Gly2215=) rs376974348
NM_001142800.2(EYS):c.6645del (p.Cys2216fs)
NM_001142800.2(EYS):c.6646T>C (p.Cys2216Arg) rs1239231782
NM_001142800.2(EYS):c.6647G>A (p.Cys2216Tyr)
NM_001142800.2(EYS):c.6648T>C (p.Cys2216=)
NM_001142800.2(EYS):c.6669G>A (p.Leu2223=) rs1295742707
NM_001142800.2(EYS):c.6671C>T (p.Thr2224Ile) rs1771370733
NM_001142800.2(EYS):c.6675T>G (p.Val2225=)
NM_001142800.2(EYS):c.6687C>T (p.Tyr2229=)
NM_001142800.2(EYS):c.6690C>T (p.Ser2230=) rs1771370327
NM_001142800.2(EYS):c.6696C>T (p.Asn2232=) rs946318214
NM_001142800.2(EYS):c.6705A>G (p.Ala2235=) rs1446390623
NM_001142800.2(EYS):c.6705A>T (p.Ala2235=)
NM_001142800.2(EYS):c.6708C>T (p.Phe2236=) rs2149855654
NM_001142800.2(EYS):c.6719_6720del (p.Thr2240fs) rs2149855637
NM_001142800.2(EYS):c.6725+13dup
NM_001142800.2(EYS):c.6725+19G>A
NM_001142800.2(EYS):c.6725+1G>A rs779055763
NM_001142800.2(EYS):c.6725+20G>A
NM_001142800.2(EYS):c.6725+7A>G
NM_001142800.2(EYS):c.6725G>A (p.Arg2242His) rs1771368413
NM_001142800.2(EYS):c.6726-17T>C
NM_001142800.2(EYS):c.6726-6G>T
NM_001142800.2(EYS):c.6729C>G (p.Tyr2243Ter)
NM_001142800.2(EYS):c.6731C>T (p.Thr2244Ile)
NM_001142800.2(EYS):c.6732_6734del (p.Thr2245del)
NM_001142800.2(EYS):c.6734C>T (p.Thr2245Met)
NM_001142800.2(EYS):c.6735G>T (p.Thr2245=) rs776003310
NM_001142800.2(EYS):c.6738T>A (p.Pro2246=)
NM_001142800.2(EYS):c.6738T>C (p.Pro2246=) rs2149802333
NM_001142800.2(EYS):c.6744C>A (p.Gly2248=)
NM_001142800.2(EYS):c.6744C>G (p.Gly2248=) rs2149802331
NM_001142800.2(EYS):c.6745dup (p.Ser2249fs)
NM_001142800.2(EYS):c.6753A>G (p.Gly2251=)
NM_001142800.2(EYS):c.6756T>A (p.Val2252=)
NM_001142800.2(EYS):c.6759T>C (p.Val2253=) rs1007699066
NM_001142800.2(EYS):c.6767T>G (p.Ile2256Ser) rs1582105077
NM_001142800.2(EYS):c.6769G>T (p.Glu2257Ter) rs2149802318
NM_001142800.2(EYS):c.676G>A (p.Gly226Ser) rs1766178015
NM_001142800.2(EYS):c.6772A>G (p.Met2258Val) rs1767966521
NM_001142800.2(EYS):c.6772dup (p.Met2258fs)
NM_001142800.2(EYS):c.6774G>A (p.Met2258Ile) rs1767966242
NM_001142800.2(EYS):c.6777T>C (p.Thr2259=) rs2149802312
NM_001142800.2(EYS):c.677G>A (p.Gly226Asp)
NM_001142800.2(EYS):c.6780del (p.Asp2261fs)
NM_001142800.2(EYS):c.6781G>C (p.Asp2261His) rs1005440976
NM_001142800.2(EYS):c.6783T>C (p.Asp2261=) rs2149802299
NM_001142800.2(EYS):c.6786A>G (p.Gly2262=) rs2149802298
NM_001142800.2(EYS):c.678C>T (p.Gly226=)
NM_001142800.2(EYS):c.6791dup (p.Pro2265fs) rs1582105016
NM_001142800.2(EYS):c.6792T>G (p.Pro2264=) rs2149802290
NM_001142800.2(EYS):c.6794del (p.Pro2265fs) rs758109813
NM_001142800.2(EYS):c.6795A>G (p.Pro2265=)
NM_001142800.2(EYS):c.6798A>G (p.Val2266=) rs2149802283
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.6808G>C (p.Asp2270His)
NM_001142800.2(EYS):c.6810C>T (p.Asp2270=)
NM_001142800.2(EYS):c.6812_6813del (p.Thr2271fs) rs2149802267
NM_001142800.2(EYS):c.6816_6817del (p.Glu2272fs) rs2149802264
NM_001142800.2(EYS):c.681T>C (p.Ser227=) rs1582375831
NM_001142800.2(EYS):c.6834+17C>A
NM_001142800.2(EYS):c.6834+18C>T
NM_001142800.2(EYS):c.6834+20G>C rs2149802230
NM_001142800.2(EYS):c.6834+2T>C
NM_001142800.2(EYS):c.6834+7A>G rs1582104893
NM_001142800.2(EYS):c.6834+7A>T
NM_001142800.2(EYS):c.6834+8T>A
NM_001142800.2(EYS):c.6834+8T>C rs2149802239
NM_001142800.2(EYS):c.6834G>T (p.Gln2278His)
NM_001142800.2(EYS):c.6835-19G>T
NM_001142800.2(EYS):c.6835-20del
NM_001142800.2(EYS):c.6835-4A>G
NM_001142800.2(EYS):c.6835-8T>C rs2149792431
NM_001142800.2(EYS):c.6837A>G (p.Ala2279=) rs2149792419
NM_001142800.2(EYS):c.6839A>G (p.Tyr2280Cys)
NM_001142800.2(EYS):c.683G>T (p.Cys228Phe) rs999213534
NM_001142800.2(EYS):c.6842_6843del (p.Tyr2280_Phe2281insTer) rs1767268980
NM_001142800.2(EYS):c.6847T>C (p.Ser2283Pro)
NM_001142800.2(EYS):c.6853T>C (p.Phe2285Leu) rs2149792407
NM_001142800.2(EYS):c.6864T>C (p.His2288=)
NM_001142800.2(EYS):c.6870T>C (p.Pro2290=) rs1582080249
NM_001142800.2(EYS):c.687T>C (p.Ile229=)
NM_001142800.2(EYS):c.6880C>T (p.Gln2294Ter) rs1767266871
NM_001142800.2(EYS):c.6889A>G (p.Lys2297Glu)
NM_001142800.2(EYS):c.6899G>T (p.Gly2300Val) rs531588707
NM_001142800.2(EYS):c.6900T>C (p.Gly2300=)
NM_001142800.2(EYS):c.6903T>A (p.Pro2301=)
NM_001142800.2(EYS):c.6918G>A (p.Arg2306=) rs944103202
NM_001142800.2(EYS):c.6920G>A (p.Gly2307Asp) rs1171456122
NM_001142800.2(EYS):c.6920del (p.Gly2307fs)
NM_001142800.2(EYS):c.6922T>C (p.Cys2308Arg)
NM_001142800.2(EYS):c.6922del (p.Cys2308fs)
NM_001142800.2(EYS):c.6928C>T (p.Leu2310=) rs1470569799
NM_001142800.2(EYS):c.6934C>A (p.Leu2312Ile) rs564315274
NM_001142800.2(EYS):c.6938A>C (p.Gln2313Pro)
NM_001142800.2(EYS):c.6939A>G (p.Gln2313=)
NM_001142800.2(EYS):c.6948C>G (p.Asn2316Lys)
NM_001142800.2(EYS):c.694A>G (p.Arg232Gly)
NM_001142800.2(EYS):c.694del (p.Arg232fs)
NM_001142800.2(EYS):c.6952G>A (p.Glu2318Lys)
NM_001142800.2(EYS):c.6952G>T (p.Glu2318Ter)
NM_001142800.2(EYS):c.6953A>T (p.Glu2318Val) rs1309758535
NM_001142800.2(EYS):c.6954A>C (p.Glu2318Asp) rs1280775639
NM_001142800.2(EYS):c.6955TTC[1] (p.Phe2320del)
NM_001142800.2(EYS):c.695G>A (p.Arg232Lys) rs139634679
NM_001142800.2(EYS):c.695G>T (p.Arg232Ile)
NM_001142800.2(EYS):c.6961ATC[1] (p.Ile2322del) rs2149792286
NM_001142800.2(EYS):c.6962T>C (p.Ile2321Thr) rs2149792294
NM_001142800.2(EYS):c.6979C>T (p.His2327Tyr)
NM_001142800.2(EYS):c.697G>T (p.Glu233Ter) rs866997713
NM_001142800.2(EYS):c.6981T>C (p.His2327=) rs2149792275
NM_001142800.2(EYS):c.6984A>G (p.Gly2328=)
NM_001142800.2(EYS):c.6987G>C (p.Lys2329Asn)
NM_001142800.2(EYS):c.6T>C (p.Thr2=) rs2127272020
NM_001142800.2(EYS):c.7008C>A (p.Val2336=)
NM_001142800.2(EYS):c.7008C>G (p.Val2336=)
NM_001142800.2(EYS):c.7010C>T (p.Pro2337Leu)
NM_001142800.2(EYS):c.7013G>A (p.Trp2338Ter) rs1231505438
NM_001142800.2(EYS):c.7013G>T (p.Trp2338Leu)
NM_001142800.2(EYS):c.7016del (p.Cys2339fs) rs2149792238
NM_001142800.2(EYS):c.7019C>A (p.Ala2340Asp) rs1767255412
NM_001142800.2(EYS):c.7020T>C (p.Ala2340=) rs1582079748
NM_001142800.2(EYS):c.7029G>A (p.Leu2343=) rs2149792224
NM_001142800.2(EYS):c.702T>C (p.Asn234=) rs2127270826
NM_001142800.2(EYS):c.7041T>C (p.Asn2347=)
NM_001142800.2(EYS):c.7047C>A (p.Thr2349=) rs1767253468
NM_001142800.2(EYS):c.7048T>A (p.Cys2350Ser) rs935531910
NM_001142800.2(EYS):c.7048del (p.Cys2350fs) rs527236069
NM_001142800.2(EYS):c.7053C>T (p.Ile2351=) rs377036936
NM_001142800.2(EYS):c.7055+10A>C
NM_001142800.2(EYS):c.7055+10A>G
NM_001142800.2(EYS):c.7055+12T>C rs897188278
NM_001142800.2(EYS):c.7055+16C>T
NM_001142800.2(EYS):c.7055+1G>A rs1582079626
NM_001142800.2(EYS):c.7055+2T>C
NM_001142800.2(EYS):c.7056-10C>T rs1772621475
NM_001142800.2(EYS):c.7056-11del
NM_001142800.2(EYS):c.7056-11dup rs2149709768
NM_001142800.2(EYS):c.7056-18A>T
NM_001142800.2(EYS):c.7056-1G>C rs1772620934
NM_001142800.2(EYS):c.7056-2A>C rs1772621012
NM_001142800.2(EYS):c.7056-2A>G rs1772621012
NM_001142800.2(EYS):c.7056-3C>T
NM_001142800.2(EYS):c.7056-7T>G
NM_001142800.2(EYS):c.7056-9C>A
NM_001142800.2(EYS):c.7068T>C (p.Asn2356=)
NM_001142800.2(EYS):c.7071G>A (p.Leu2357=) rs1440203963
NM_001142800.2(EYS):c.7073_7081dup (p.Phe2358_Glu2360dup) rs1372494388
NM_001142800.2(EYS):c.7074T>C (p.Phe2358=) rs1772620298
NM_001142800.2(EYS):c.7085del (p.Pro2362fs)
NM_001142800.2(EYS):c.7103A>G (p.Lys2368Arg) rs2149709736
NM_001142800.2(EYS):c.7105C>T (p.Leu2369=) rs2149709733
NM_001142800.2(EYS):c.7107G>C (p.Leu2369=)
NM_001142800.2(EYS):c.7110C>T (p.Cys2370=) rs1481791270
NM_001142800.2(EYS):c.7115T>A (p.Phe2372Tyr)
NM_001142800.2(EYS):c.7117G>C (p.Ala2373Pro) rs372512515
NM_001142800.2(EYS):c.7125T>C (p.Cys2375=) rs2149709718
NM_001142800.2(EYS):c.712C>T (p.Gln238Ter) rs1212010105
NM_001142800.2(EYS):c.7137A>G (p.Pro2379=)
NM_001142800.2(EYS):c.7140T>G (p.Cys2380Trp)
NM_001142800.2(EYS):c.7142G>A (p.Gly2381Glu)
NM_001142800.2(EYS):c.7147G>A (p.Gly2383Ser) rs1374599500
NM_001142800.2(EYS):c.7150G>A (p.Ala2384Thr) rs954585421
NM_001142800.2(EYS):c.7162C>T (p.Pro2388Ser)
NM_001142800.2(EYS):c.7164A>C (p.Pro2388=) rs1233804845
NM_001142800.2(EYS):c.7164A>G (p.Pro2388=) rs1233804845
NM_001142800.2(EYS):c.716_717delinsGC (p.Ala239Gly)
NM_001142800.2(EYS):c.7170C>G (p.Ser2390=) rs201364943
NM_001142800.2(EYS):c.7176A>T (p.Thr2392=) rs2149709693
NM_001142800.2(EYS):c.7182T>C (p.Ile2394=) rs1438190625
NM_001142800.2(EYS):c.7184T>G (p.Val2395Gly) rs1389763357
NM_001142800.2(EYS):c.7194C>A (p.Cys2398Ter) rs2149709686
NM_001142800.2(EYS):c.7198T>C (p.Tyr2400His)
NM_001142800.2(EYS):c.7200T>C (p.Tyr2400=)
NM_001142800.2(EYS):c.7205G>A (p.Arg2402Lys) rs766515998
NM_001142800.2(EYS):c.7212A>G (p.Gly2404=) rs1178964789
NM_001142800.2(EYS):c.7228+10T>C
NM_001142800.2(EYS):c.7228+13G>A
NM_001142800.2(EYS):c.7228+15T>C
NM_001142800.2(EYS):c.7228+16T>C
NM_001142800.2(EYS):c.7228+16del
NM_001142800.2(EYS):c.7228+20A>C
NM_001142800.2(EYS):c.7228+7G>T rs1200302625
NM_001142800.2(EYS):c.7228+8C>T rs2149709665
NM_001142800.2(EYS):c.7228+9A>C
NM_001142800.2(EYS):c.7228G>T (p.Ala2410Ser) rs915505702
NM_001142800.2(EYS):c.7228_7228+1delinsTA rs1772614934
NM_001142800.2(EYS):c.7229-12G>T
NM_001142800.2(EYS):c.7229-1G>A rs1554171033
NM_001142800.2(EYS):c.7229-1G>T rs1554171033
NM_001142800.2(EYS):c.7229-5del
NM_001142800.2(EYS):c.7229-6del rs1174597152
NM_001142800.2(EYS):c.7229-7T>G rs2149679018
NM_001142800.2(EYS):c.7243C>T (p.Gln2415Ter)
NM_001142800.2(EYS):c.7251G>T (p.Arg2417Ser) rs572836860
NM_001142800.2(EYS):c.7258G>A (p.Gly2420Ser)
NM_001142800.2(EYS):c.7260C>T (p.Gly2420=) rs1770908773
NM_001142800.2(EYS):c.7269C>T (p.Ala2423=) rs537662286
NM_001142800.2(EYS):c.7272T>C (p.Phe2424=) rs567167108
NM_001142800.2(EYS):c.7281C>G (p.Thr2427=)
NM_001142800.2(EYS):c.7283C>A (p.Ser2428Ter) rs2149678975
NM_001142800.2(EYS):c.7283C>G (p.Ser2428Ter) rs2149678975
NM_001142800.2(EYS):c.7296T>A (p.Tyr2432Ter)
NM_001142800.2(EYS):c.7302G>A (p.Arg2434=) rs2149678965
NM_001142800.2(EYS):c.7302G>C (p.Arg2434=)
NM_001142800.2(EYS):c.7305C>T (p.Ile2435=) rs1770907276
NM_001142800.2(EYS):c.730T>C (p.Cys244Arg)
NM_001142800.2(EYS):c.7316G>C (p.Ser2439Thr)
NM_001142800.2(EYS):c.7318T>C (p.Phe2440Leu)
NM_001142800.2(EYS):c.731G>C (p.Cys244Ser) rs1766174358
NM_001142800.2(EYS):c.7322A>G (p.His2441Arg)
NM_001142800.2(EYS):c.7326T>G (p.Tyr2442Ter) rs1770906719
NM_001142800.2(EYS):c.732T>A (p.Cys244Ter) rs1562220891
NM_001142800.2(EYS):c.7332C>T (p.Phe2444=)
NM_001142800.2(EYS):c.7335C>T (p.His2445=)
NM_001142800.2(EYS):c.7346A>T (p.Gln2449Leu) rs2149678948
NM_001142800.2(EYS):c.734A>G (p.His245Arg)
NM_001142800.2(EYS):c.7359C>T (p.Asn2453=) rs748614028
NM_001142800.2(EYS):c.7361_7362dup (p.Ser2455fs)
NM_001142800.2(EYS):c.7365A>G (p.Ser2455=)
NM_001142800.2(EYS):c.7368A>G (p.Ala2456=)
NM_001142800.2(EYS):c.7369C>T (p.Leu2457=) rs551500915
NM_001142800.2(EYS):c.7371G>T (p.Leu2457=) rs1228795659
NM_001142800.2(EYS):c.737C>T (p.Pro246Leu)
NM_001142800.2(EYS):c.737del (p.Pro246fs) rs2127270768
NM_001142800.2(EYS):c.7385dup (p.Phe2463fs)
NM_001142800.2(EYS):c.7392T>A (p.Phe2464Leu) rs754984757
NM_001142800.2(EYS):c.7392dup (p.Thr2465fs) rs1770904723
NM_001142800.2(EYS):c.7401G>A (p.Gln2467=)
NM_001142800.2(EYS):c.7407C>A (p.Gly2469=) rs780311041
NM_001142800.2(EYS):c.7411+13G>A
NM_001142800.2(EYS):c.7411+16C>A
NM_001142800.2(EYS):c.7411+20C>G
NM_001142800.2(EYS):c.7411+7T>C
NM_001142800.2(EYS):c.7411+8T>A rs1438024536
NM_001142800.2(EYS):c.7411+9A>C
NM_001142800.2(EYS):c.7412-16del rs2149670956
NM_001142800.2(EYS):c.7412-17G>A rs2149670957
NM_001142800.2(EYS):c.7412-18T>C
NM_001142800.2(EYS):c.7412-1G>A rs1167742176
NM_001142800.2(EYS):c.7412-20C>T
NM_001142800.2(EYS):c.7412-20del
NM_001142800.2(EYS):c.7412-2A>G rs2149670951
NM_001142800.2(EYS):c.7412-8C>T
NM_001142800.2(EYS):c.7412-9T>C
NM_001142800.2(EYS):c.7414T>C (p.Leu2472=) rs1582208836
NM_001142800.2(EYS):c.741A>G (p.Pro247=)
NM_001142800.2(EYS):c.7423G>A (p.Asp2475Asn) rs140594243
NM_001142800.2(EYS):c.7430_7433del (p.Phe2477fs)
NM_001142800.2(EYS):c.7433T>G (p.Leu2478Arg)
NM_001142800.2(EYS):c.7437T>G (p.Ala2479=)
NM_001142800.2(EYS):c.7439T>C (p.Val2480Ala)
NM_001142800.2(EYS):c.7441G>C (p.Gly2481Arg)
NM_001142800.2(EYS):c.7447dup (p.Leu2483fs)
NM_001142800.2(EYS):c.744T>C (p.Phe248=) rs768173246
NM_001142800.2(EYS):c.744T>G (p.Phe248Leu)
NM_001142800.2(EYS):c.7455C>T (p.Gly2485=)
NM_001142800.2(EYS):c.7456A>T (p.Ser2486Cys) rs2149670919
NM_001142800.2(EYS):c.7458T>C (p.Ser2486=)
NM_001142800.2(EYS):c.7460_7461del (p.Val2487fs)
NM_001142800.2(EYS):c.7461G>A (p.Val2487=) rs1582208753
NM_001142800.2(EYS):c.7467T>C (p.Tyr2489=)
NM_001142800.2(EYS):c.7476C>T (p.Asn2492=)
NM_001142800.2(EYS):c.748+16A>G
NM_001142800.2(EYS):c.748+17T>C
NM_001142800.2(EYS):c.748+1G>A rs1766169568
NM_001142800.2(EYS):c.748+7T>G
NM_001142800.2(EYS):c.748+8T>A rs908158495
NM_001142800.2(EYS):c.748+8del rs2127270735
NM_001142800.2(EYS):c.748+9G>A
NM_001142800.2(EYS):c.7482G>T (p.Gly2494=) rs1276511581
NM_001142800.2(EYS):c.748G>T (p.Gly250Ter)
NM_001142800.2(EYS):c.749-10A>T
NM_001142800.2(EYS):c.749-12del
NM_001142800.2(EYS):c.749-12dup
NM_001142800.2(EYS):c.749-15T>G
NM_001142800.2(EYS):c.749-16T>A
NM_001142800.2(EYS):c.749-18T>A
NM_001142800.2(EYS):c.749-19C>T
NM_001142800.2(EYS):c.749-1G>A rs368159852
NM_001142800.2(EYS):c.749-1G>C rs368159852
NM_001142800.2(EYS):c.749-20A>C
NM_001142800.2(EYS):c.749-20del rs751379141
NM_001142800.2(EYS):c.749-20dup rs751379141
NM_001142800.2(EYS):c.749-2A>G rs1766011028
NM_001142800.2(EYS):c.749-4A>C rs755100802
NM_001142800.2(EYS):c.749-8T>C
NM_001142800.2(EYS):c.7497C>T (p.Ser2499=)
NM_001142800.2(EYS):c.7501A>G (p.Arg2501Gly)
NM_001142800.2(EYS):c.750A>G (p.Gly250=)
NM_001142800.2(EYS):c.7510C>A (p.Pro2504Thr)
NM_001142800.2(EYS):c.7517A>T (p.Asn2506Ile)
NM_001142800.2(EYS):c.7530A>G (p.Gly2510=) rs2149670876
NM_001142800.2(EYS):c.7533C>A (p.Val2511=) rs1181640297
NM_001142800.2(EYS):c.7538C>A (p.Thr2513Asn)
NM_001142800.2(EYS):c.7540_7541del (p.Val2514fs) rs2149670871
NM_001142800.2(EYS):c.7549G>A (p.Gly2517Ser) rs199754359
NM_001142800.2(EYS):c.7550_7554del (p.Gly2517fs)
NM_001142800.2(EYS):c.7551C>A (p.Gly2517=) rs2149670865
NM_001142800.2(EYS):c.7551C>G (p.Gly2517=)
NM_001142800.2(EYS):c.7559T>C (p.Phe2520Ser) rs2149670858
NM_001142800.2(EYS):c.7570del (p.Trp2524fs)
NM_001142800.2(EYS):c.7571G>A (p.Trp2524Ter) rs2149670847
NM_001142800.2(EYS):c.7572G>A (p.Trp2524Ter) rs902462590
NM_001142800.2(EYS):c.7573C>T (p.Leu2525=)
NM_001142800.2(EYS):c.7575G>T (p.Leu2525=) rs2149670844
NM_001142800.2(EYS):c.7578+11A>C
NM_001142800.2(EYS):c.7578+15C>T
NM_001142800.2(EYS):c.7578+19G>C
NM_001142800.2(EYS):c.7578+3A>G
NM_001142800.2(EYS):c.7578+5A>G rs1770441002
NM_001142800.2(EYS):c.7578+7A>G rs1020797365
NM_001142800.2(EYS):c.7578+8G>C
NM_001142800.2(EYS):c.7579-11dup rs1044534941
NM_001142800.2(EYS):c.7579-12del
NM_001142800.2(EYS):c.7579-12dup rs752462530
NM_001142800.2(EYS):c.7579-17T>A
NM_001142800.2(EYS):c.7579-18T>A
NM_001142800.2(EYS):c.7579-18T>G
NM_001142800.2(EYS):c.7579-19T>C
NM_001142800.2(EYS):c.7579-1G>T
NM_001142800.2(EYS):c.7579-4G>A rs1320489387
NM_001142800.2(EYS):c.7579-4G>T
NM_001142800.2(EYS):c.7579-6T>A
NM_001142800.2(EYS):c.7579-9C>T rs897499177
NM_001142800.2(EYS):c.7583del (p.Asp2528fs)
NM_001142800.2(EYS):c.7585G>A (p.Asp2529Asn)
NM_001142800.2(EYS):c.7596T>C (p.Asn2532=) rs2149670404
NM_001142800.2(EYS):c.7597A>T (p.Lys2533Ter) rs114512007
NM_001142800.2(EYS):c.759C>G (p.Cys253Trp)
NM_001142800.2(EYS):c.7602C>A (p.Ser2534=)
NM_001142800.2(EYS):c.7602C>G (p.Ser2534=)
NM_001142800.2(EYS):c.7609G>T (p.Ala2537Ser) rs189406424
NM_001142800.2(EYS):c.7610C>T (p.Ala2537Val) rs1770416806
NM_001142800.2(EYS):c.7611C>T (p.Ala2537=)
NM_001142800.2(EYS):c.7617A>G (p.Gly2539=)
NM_001142800.2(EYS):c.7624del (p.Val2542fs)
NM_001142800.2(EYS):c.7627G>A (p.Gly2543Ser) rs1770415980
NM_001142800.2(EYS):c.7645_7646del (p.Gln2549fs) rs2149670368
NM_001142800.2(EYS):c.7650T>C (p.Phe2550=)
NM_001142800.2(EYS):c.7656A>G (p.Val2552=)
NM_001142800.2(EYS):c.7658G>A (p.Gly2553Asp) rs2149670360
NM_001142800.2(EYS):c.7665C>T (p.Tyr2555=) rs2149670358
NM_001142800.2(EYS):c.7666A>G (p.Ser2556Gly)
NM_001142800.2(EYS):c.7667G>A (p.Ser2556Asn)
NM_001142800.2(EYS):c.7672T>C (p.Tyr2558His) rs2149670342
NM_001142800.2(EYS):c.7675A>G (p.Thr2559Ala) rs1770414715
NM_001142800.2(EYS):c.7684C>G (p.Leu2562Val) rs1770414327
NM_001142800.2(EYS):c.7689A>G (p.Leu2563=) rs1450993106
NM_001142800.2(EYS):c.7695T>C (p.Asn2565=)
NM_001142800.2(EYS):c.7696G>T (p.Gly2566Ter)
NM_001142800.2(EYS):c.7698A>G (p.Gly2566=)
NM_001142800.2(EYS):c.769A>G (p.Ile257Val) rs2127266533
NM_001142800.2(EYS):c.7700_7702del (p.Ala2567del) rs371899196
NM_001142800.2(EYS):c.7701A>C (p.Ala2567=) rs1582207658
NM_001142800.2(EYS):c.7708A>T (p.Lys2570Ter)
NM_001142800.2(EYS):c.7716T>C (p.Gly2572=)
NM_001142800.2(EYS):c.7719T>C (p.Phe2573=) rs1224190792
NM_001142800.2(EYS):c.7723+13C>T
NM_001142800.2(EYS):c.7723+14A>G
NM_001142800.2(EYS):c.7723+1G>A rs1770412895
NM_001142800.2(EYS):c.7723+2T>G rs2149670301
NM_001142800.2(EYS):c.7724-2A>G rs1770114606
NM_001142800.2(EYS):c.7724-4C>T rs1582197606
NM_001142800.2(EYS):c.7724-6T>C rs1770114815
NM_001142800.2(EYS):c.7727G>C (p.Cys2576Ser)
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.7746_7762del (p.Arg2583fs)
NM_001142800.2(EYS):c.7747C>T (p.Arg2583Cys)
NM_001142800.2(EYS):c.7748G>A (p.Arg2583His) rs564020009
NM_001142800.2(EYS):c.7748G>T (p.Arg2583Leu)
NM_001142800.2(EYS):c.7749C>T (p.Arg2583=) rs2149664363
NM_001142800.2(EYS):c.7758G>A (p.Lys2586=) rs2149664358
NM_001142800.2(EYS):c.775C>T (p.Gln259Ter)
NM_001142800.2(EYS):c.7779G>C (p.Leu2593=) rs1582197516
NM_001142800.2(EYS):c.7798_7802del (p.Pro2600fs) rs1770112191
NM_001142800.2(EYS):c.7799C>A (p.Pro2600Gln) rs2149664334
NM_001142800.2(EYS):c.7806T>C (p.Ala2602=)
NM_001142800.2(EYS):c.7809A>T (p.Gly2603=) rs1200066004
NM_001142800.2(EYS):c.7810C>A (p.Arg2604Ser) rs1015857165
NM_001142800.2(EYS):c.7812C>A (p.Arg2604=)
NM_001142800.2(EYS):c.7815T>C (p.Ser2605=) rs2149664311
NM_001142800.2(EYS):c.7821C>G (p.Gly2607=)
NM_001142800.2(EYS):c.7824G>A (p.Gln2608=) rs2149664299
NM_001142800.2(EYS):c.7826G>A (p.Cys2609Tyr) rs755966517
NM_001142800.2(EYS):c.7826G>C (p.Cys2609Ser) rs755966517
NM_001142800.2(EYS):c.7839C>A (p.Pro2613=) rs2149664283
NM_001142800.2(EYS):c.7842C>T (p.Cys2614=) rs374494800
NM_001142800.2(EYS):c.7869G>C (p.Gly2623=)
NM_001142800.2(EYS):c.786dup (p.His263fs) rs1766009155
NM_001142800.2(EYS):c.7872A>G (p.Thr2624=)
NM_001142800.2(EYS):c.7874G>T (p.Cys2625Phe)
NM_001142800.2(EYS):c.7876A>G (p.Ile2626Val) rs2149664250
NM_001142800.2(EYS):c.7883G>A (p.Ser2628Asn)
NM_001142800.2(EYS):c.7886G>C (p.Gly2629Ala) rs2149664242
NM_001142800.2(EYS):c.7888del (p.Thr2630fs) rs2149664241
NM_001142800.2(EYS):c.7898+10A>G rs1582197337
NM_001142800.2(EYS):c.7898+11C>A
NM_001142800.2(EYS):c.7898+11C>T
NM_001142800.2(EYS):c.7898+12_7898+14del rs2149664227
NM_001142800.2(EYS):c.7898+13T>C
NM_001142800.2(EYS):c.7898+15A>C
NM_001142800.2(EYS):c.7898+1G>A rs1206861190
NM_001142800.2(EYS):c.7898+20G>A
NM_001142800.2(EYS):c.7898+9G>C
NM_001142800.2(EYS):c.7899-16_7899-15del
NM_001142800.2(EYS):c.7899-17T>C
NM_001142800.2(EYS):c.7899-6C>T
NM_001142800.2(EYS):c.7905T>C (p.Asn2635=)
NM_001142800.2(EYS):c.7908T>C (p.Cys2636=) rs1769674017
NM_001142800.2(EYS):c.7911C>G (p.Thr2637=) rs1562014368
NM_001142800.2(EYS):c.7911C>T (p.Thr2637=) rs1562014368
NM_001142800.2(EYS):c.7914T>G (p.Thr2638=)
NM_001142800.2(EYS):c.7915G>C (p.Gly2639Arg)
NM_001142800.2(EYS):c.7917G>A (p.Gly2639=)
NM_001142800.2(EYS):c.792C>T (p.Val264=)
NM_001142800.2(EYS):c.7935C>T (p.Cys2645=)
NM_001142800.2(EYS):c.7938A>G (p.Thr2646=) rs2149655866
NM_001142800.2(EYS):c.7941G>A (p.Glu2647=)
NM_001142800.2(EYS):c.7943_7944del (p.Thr2648fs) rs1278985995
NM_001142800.2(EYS):c.7951A>G (p.Thr2651Ala)
NM_001142800.2(EYS):c.7953del (p.Cys2652fs)
NM_001142800.2(EYS):c.7955G>A (p.Cys2652Tyr) rs1389551814
NM_001142800.2(EYS):c.7973C>T (p.Pro2658Leu)
NM_001142800.2(EYS):c.7974T>G (p.Pro2658=)
NM_001142800.2(EYS):c.7990A>T (p.Arg2664Ter)
NM_001142800.2(EYS):c.7995A>G (p.Gly2665=) rs1217814272
NM_001142800.2(EYS):c.8004C>T (p.Cys2668=) rs1705369976
NM_001142800.2(EYS):c.8008del (p.Ser2670fs)
NM_001142800.2(EYS):c.8015del (p.Pro2672fs)
NM_001142800.2(EYS):c.8022A>G (p.Gly2674=)
NM_001142800.2(EYS):c.8025C>T (p.Tyr2675=)
NM_001142800.2(EYS):c.8031T>A (p.Cys2677Ter)
NM_001142800.2(EYS):c.803del (p.Gly268fs) rs1766006937
NM_001142800.2(EYS):c.8041C>G (p.Leu2681Val) rs1769668244
NM_001142800.2(EYS):c.8052T>C (p.Thr2684=) rs2149655757
NM_001142800.2(EYS):c.8061C>T (p.Tyr2687=) rs2149655747
NM_001142800.2(EYS):c.8064T>C (p.Cys2688=)
NM_001142800.2(EYS):c.8071+17A>G
NM_001142800.2(EYS):c.8071+5G>A
NM_001142800.2(EYS):c.8071+7C>A
NM_001142800.2(EYS):c.8072-13C>G
NM_001142800.2(EYS):c.8072-15C>T
NM_001142800.2(EYS):c.8072-17T>C
NM_001142800.2(EYS):c.8072-18T>C
NM_001142800.2(EYS):c.8072-19_8072-18del
NM_001142800.2(EYS):c.8072-1G>T
NM_001142800.2(EYS):c.8072-2A>G
NM_001142800.2(EYS):c.8072-6C>T rs2149631949
NM_001142800.2(EYS):c.8082A>C (p.Ile2694=)
NM_001142800.2(EYS):c.8088T>C (p.Asp2696=)
NM_001142800.2(EYS):c.808T>C (p.Cys270Arg) rs2127266453
NM_001142800.2(EYS):c.8092T>A (p.Ser2698Thr) rs2149631916
NM_001142800.2(EYS):c.8092T>C (p.Ser2698Pro)
NM_001142800.2(EYS):c.8098A>T (p.Arg2700Ter)
NM_001142800.2(EYS):c.8102del (p.Ser2701fs) rs2149631907
NM_001142800.2(EYS):c.8104A>C (p.Asn2702His) rs1768627778
NM_001142800.2(EYS):c.8109G>A (p.Glu2703=) rs1392872599
NM_001142800.2(EYS):c.810C>A (p.Cys270Ter) rs2127266443
NM_001142800.2(EYS):c.810del (p.Asn269_Cys270insTer)
NM_001142800.2(EYS):c.8113T>C (p.Ser2705Pro) rs1325363549
NM_001142800.2(EYS):c.8114C>G (p.Ser2705Cys) rs1230647637
NM_001142800.2(EYS):c.8115C>A (p.Ser2705=)
NM_001142800.2(EYS):c.8115C>G (p.Ser2705=) rs868203134
NM_001142800.2(EYS):c.8124T>C (p.Ser2708=) rs2149631870
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.8139T>C (p.His2713=) rs1768626166
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.8158_8159del (p.Ile2720fs) rs2149631831
NM_001142800.2(EYS):c.8159T>C (p.Ile2720Thr) rs756985941
NM_001142800.2(EYS):c.8162A>C (p.Gln2721Pro)
NM_001142800.2(EYS):c.8164T>C (p.Leu2722=)
NM_001142800.2(EYS):c.8169G>A (p.Gln2723=)
NM_001142800.2(EYS):c.8178T>G (p.Pro2726=) rs767955491
NM_001142800.2(EYS):c.8184T>C (p.Ala2728=)
NM_001142800.2(EYS):c.8184T>G (p.Ala2728=) rs1582145928
NM_001142800.2(EYS):c.8185G>A (p.Ala2729Thr)
NM_001142800.2(EYS):c.8187A>G (p.Ala2729=) rs2149631783
NM_001142800.2(EYS):c.8189A>G (p.Asp2730Gly) rs1768623734
NM_001142800.2(EYS):c.8189dup (p.Asp2730fs) rs2149631777
NM_001142800.2(EYS):c.8193T>C (p.Gly2731=)
NM_001142800.2(EYS):c.8196C>A (p.Ile2732=)
NM_001142800.2(EYS):c.8196C>T (p.Ile2732=)
NM_001142800.2(EYS):c.8199A>G (p.Leu2733=)
NM_001142800.2(EYS):c.81A>G (p.Gln27=)
NM_001142800.2(EYS):c.8203T>C (p.Tyr2735His) rs1768623493
NM_001142800.2(EYS):c.8208T>C (p.Ala2736=) rs1582145891
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.8211A>G (p.Ala2737=) rs1011193191
NM_001142800.2(EYS):c.8217C>A (p.His2739Gln) rs773389004
NM_001142800.2(EYS):c.8217C>T (p.His2739=)
NM_001142800.2(EYS):c.8218T>C (p.Leu2740=) rs2149631727
NM_001142800.2(EYS):c.8223del (p.Ala2742fs)
NM_001142800.2(EYS):c.822T>C (p.Thr274=) rs2127266431
NM_001142800.2(EYS):c.8230T>C (p.Ser2744Pro) rs1768622052
NM_001142800.2(EYS):c.8233+15C>T
NM_001142800.2(EYS):c.8233+17G>C
NM_001142800.2(EYS):c.8233+18T>C
NM_001142800.2(EYS):c.8233+19_8233+20del
NM_001142800.2(EYS):c.8233+1del rs1768621880
NM_001142800.2(EYS):c.82T>C (p.Leu28=)
NM_001142800.2(EYS):c.837T>C (p.Ile279=) rs2127266410
NM_001142800.2(EYS):c.839G>T (p.Cys280Phe) rs1766004190
NM_001142800.2(EYS):c.843A>G (p.Glu281=)
NM_001142800.2(EYS):c.846T>C (p.Cys282=)
NM_001142800.2(EYS):c.849T>C (p.Asp283=)
NM_001142800.2(EYS):c.852G>A (p.Glu284=) rs2127266382
NM_001142800.2(EYS):c.855A>G (p.Gln285=) rs2127266373
NM_001142800.2(EYS):c.862+10G>C rs2127266343
NM_001142800.2(EYS):c.862+13T>C
NM_001142800.2(EYS):c.862+14A>G
NM_001142800.2(EYS):c.862+15T>C rs2127266325
NM_001142800.2(EYS):c.862+18A>C rs2127266320
NM_001142800.2(EYS):c.862+18A>G
NM_001142800.2(EYS):c.862+1G>A
NM_001142800.2(EYS):c.862+2T>C
NM_001142800.2(EYS):c.862+8dup
NM_001142800.2(EYS):c.862+9T>G
NM_001142800.2(EYS):c.863-13T>C
NM_001142800.2(EYS):c.863-16G>A
NM_001142800.2(EYS):c.863-16_872del
NM_001142800.2(EYS):c.863-18G>C
NM_001142800.2(EYS):c.863-18G>T
NM_001142800.2(EYS):c.863-19T>C
NM_001142800.2(EYS):c.863-19_863-18insCTC
NM_001142800.2(EYS):c.863-20T>G
NM_001142800.2(EYS):c.863-21_863-20dup
NM_001142800.2(EYS):c.863-4T>A rs2150365635
NM_001142800.2(EYS):c.863-4del rs199517256
NM_001142800.2(EYS):c.863-4dup rs199517256
NM_001142800.2(EYS):c.863-6T>C
NM_001142800.2(EYS):c.863-6T>G
NM_001142800.2(EYS):c.863-8T>C rs2150365642
NM_001142800.2(EYS):c.867A>C (p.Pro289=) rs746039939
NM_001142800.2(EYS):c.870C>T (p.Phe290=)
NM_001142800.2(EYS):c.872G>A (p.Cys291Tyr)
NM_001142800.2(EYS):c.873T>C (p.Cys291=)
NM_001142800.2(EYS):c.876G>A (p.Glu292=)
NM_001142800.2(EYS):c.877G>T (p.Val293Leu) rs756070544
NM_001142800.2(EYS):c.882A>G (p.Ser294=)
NM_001142800.2(EYS):c.885A>C (p.Ala295=) rs1766687516
NM_001142800.2(EYS):c.897T>G (p.Val299=) rs2150365584
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.91G>T (p.Glu31Ter) rs572189652
NM_001142800.2(EYS):c.927C>T (p.Cys309=)
NM_001142800.2(EYS):c.929C>G (p.Pro310Arg)
NM_001142800.2(EYS):c.942del (p.Ala315fs)
NM_001142800.2(EYS):c.951T>G (p.Thr317=) rs993944802
NM_001142800.2(EYS):c.960C>T (p.Cys320=) rs2150365535
NM_001142800.2(EYS):c.962C>G (p.Pro321Arg) rs534421846
NM_001142800.2(EYS):c.962del (p.Pro321fs)
NM_001142800.2(EYS):c.963A>C (p.Pro321=) rs2150365523
NM_001142800.2(EYS):c.969A>T (p.Gly323=)
NM_001142800.2(EYS):c.975C>T (p.Ser325=)
NM_001142800.2(EYS):c.975del (p.Ser326fs)
NM_001142800.2(EYS):c.984T>C (p.Asn328=)
NM_001142800.2(EYS):c.984del (p.Asn328fs) rs1766679809
NM_001142800.2(EYS):c.987T>C (p.Gly329=)
NM_001142800.2(EYS):c.990_991del (p.Glu330fs) rs1766679390
NM_001142800.2(EYS):c.993T>C (p.Thr331=)
NM_001142800.2(EYS):c.995A>T (p.Asp332Val)
NM_001142800.2(EYS):c.997G>A (p.Val333Ile)
NM_001142800.2(EYS):c.9C>T (p.Asp3=)

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