ClinVar Miner

List of variants in gene EYS reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1087
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HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.4891C>T (p.Pro1631Ser) rs200935518 0.00083
NM_001142800.2(EYS):c.6284C>T (p.Pro2095Leu) rs200374024 0.00081
NM_001142800.2(EYS):c.3694A>T (p.Ile1232Phe) rs190009374 0.00075
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272 0.00066
NM_001142800.2(EYS):c.1459+5C>T rs200387978 0.00061
NM_001142800.2(EYS):c.7034G>A (p.Arg2345His) rs201304559 0.00055
NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro) rs778646190 0.00049
NM_001142800.2(EYS):c.4402G>C (p.Asp1468His) rs778752557 0.00049
NM_001142800.2(EYS):c.5566C>T (p.Arg1856Trp) rs116561042 0.00047
NM_001142800.2(EYS):c.2068T>A (p.Cys690Ser) rs370950723 0.00042
NM_001142800.2(EYS):c.1748A>C (p.Asp583Ala) rs113591099 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.1082T>C (p.Ile361Thr) rs201059400 0.00030
NM_001142800.2(EYS):c.2596T>C (p.Cys866Arg) rs369966951 0.00029
NM_001142800.2(EYS):c.8080A>G (p.Ile2694Val) rs35504565 0.00029
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.2512C>T (p.Pro838Ser) rs112495229 0.00025
NM_001142800.2(EYS):c.2027C>T (p.Thr676Met) rs199944222 0.00021
NM_001142800.2(EYS):c.4991C>T (p.Thr1664Ile) rs561830314 0.00021
NM_001142800.2(EYS):c.2470T>C (p.Cys824Arg) rs761721655 0.00020
NM_001142800.2(EYS):c.2302T>A (p.Cys768Ser) rs374204063 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.7751C>G (p.Thr2584Ser) rs557892188 0.00019
NM_001142800.2(EYS):c.2439C>T (p.Cys813=) rs367546131 0.00018
NM_001142800.2(EYS):c.2903A>G (p.Asn968Ser) rs535658960 0.00018
NM_001142800.2(EYS):c.1059T>A (p.Asp353Glu) rs138954858 0.00017
NM_001142800.2(EYS):c.719A>G (p.Tyr240Cys) rs150502410 0.00017
NM_001142800.2(EYS):c.3695T>C (p.Ile1232Thr) rs146413074 0.00016
NM_001142800.2(EYS):c.7507G>A (p.Glu2503Lys) rs768964978 0.00016
NM_001142800.2(EYS):c.4640A>G (p.Asp1547Gly) rs1010782574 0.00014
NM_001142800.2(EYS):c.6436T>C (p.Phe2146Leu) rs545408886 0.00014
NM_001142800.2(EYS):c.4067G>A (p.Arg1356His) rs961867431 0.00013
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.1466A>T (p.Glu489Val) rs140518088 0.00011
NM_001142800.2(EYS):c.16A>G (p.Ile6Val) rs779012572 0.00011
NM_001142800.2(EYS):c.3832G>T (p.Ala1278Ser) rs775270768 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.6188G>T (p.Cys2063Phe) rs138123230 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.2513C>T (p.Pro838Leu) rs867716723 0.00010
NM_001142800.2(EYS):c.3202G>A (p.Asp1068Asn) rs747998145 0.00010
NM_001142800.2(EYS):c.7724-3A>G rs1407901884 0.00010
NM_001142800.2(EYS):c.7744G>A (p.Val2582Ile) rs779269543 0.00010
NM_001142800.2(EYS):c.1747G>T (p.Asp583Tyr) rs776055954 0.00009
NM_001142800.2(EYS):c.5567G>A (p.Arg1856Gln) rs563441026 0.00009
NM_001142800.2(EYS):c.2259C>T (p.Leu753=) rs781359405 0.00008
NM_001142800.2(EYS):c.3773C>T (p.Thr1258Ile) rs372304848 0.00008
NM_001142800.2(EYS):c.4864G>A (p.Ala1622Thr) rs533075374 0.00008
NM_001142800.2(EYS):c.831T>A (p.Ser277Arg) rs759315564 0.00008
NM_001142800.2(EYS):c.865C>G (p.Pro289Ala) rs772145998 0.00008
NM_001142800.2(EYS):c.1218G>T (p.Glu406Asp) rs201331309 0.00007
NM_001142800.2(EYS):c.380G>T (p.Gly127Val) rs201076128 0.00007
NM_001142800.2(EYS):c.4270A>G (p.Thr1424Ala) rs1045167208 0.00007
NM_001142800.2(EYS):c.5189G>A (p.Gly1730Glu) rs927928681 0.00007
NM_001142800.2(EYS):c.6409C>T (p.Arg2137Cys) rs763862423 0.00007
NM_001142800.2(EYS):c.7171G>A (p.Gly2391Arg) rs751746614 0.00007
NM_001142800.2(EYS):c.8048C>A (p.Thr2683Asn) rs996098321 0.00007
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.1952C>T (p.Ser651Phe) rs940468386 0.00006
NM_001142800.2(EYS):c.2024G>A (p.Gly675Asp) rs1323236780 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.5296C>T (p.His1766Tyr) rs190942468 0.00006
NM_001142800.2(EYS):c.5392G>C (p.Ala1798Pro) rs927982487 0.00006
NM_001142800.2(EYS):c.6410G>A (p.Arg2137His) rs369090261 0.00006
NM_001142800.2(EYS):c.6536T>C (p.Ile2179Thr) rs924836478 0.00006
NM_001142800.2(EYS):c.7117G>A (p.Ala2373Thr) rs372512515 0.00006
NM_001142800.2(EYS):c.-428C>T rs913507265 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.3446G>A (p.Cys1149Tyr) rs1315175190 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.5284T>C (p.Ser1762Pro) rs749598687 0.00005
NM_001142800.2(EYS):c.557A>G (p.His186Arg) rs140341077 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.833T>C (p.Phe278Ser) rs142777049 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.1293A>T (p.Arg431Ser) rs371607669 0.00004
NM_001142800.2(EYS):c.1462T>G (p.Ser488Ala) rs754245105 0.00004
NM_001142800.2(EYS):c.1588G>A (p.Gly530Ser) rs779678010 0.00004
NM_001142800.2(EYS):c.2222C>T (p.Ala741Val) rs1009558644 0.00004
NM_001142800.2(EYS):c.2387A>T (p.Glu796Val) rs909973943 0.00004
NM_001142800.2(EYS):c.3028T>C (p.Ser1010Pro) rs557931285 0.00004
NM_001142800.2(EYS):c.3061G>A (p.Asp1021Asn) rs750283324 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.3645T>A (p.Asn1215Lys) rs369993811 0.00004
NM_001142800.2(EYS):c.3835A>G (p.Thr1279Ala) rs761504179 0.00004
NM_001142800.2(EYS):c.4108C>T (p.His1370Tyr) rs1381744132 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.5902G>A (p.Gly1968Arg) rs992864714 0.00004
NM_001142800.2(EYS):c.5950G>A (p.Ala1984Thr) rs574948016 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.7517A>G (p.Asn2506Ser) rs1358747928 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.863-15T>A rs368478214 0.00004
NM_001142800.2(EYS):c.1154G>A (p.Cys385Tyr) rs775400880 0.00003
NM_001142800.2(EYS):c.1483G>C (p.Gly495Arg) rs771221172 0.00003
NM_001142800.2(EYS):c.1652G>A (p.Arg551Gln) rs773906269 0.00003
NM_001142800.2(EYS):c.2593A>G (p.Thr865Ala) rs1228765084 0.00003
NM_001142800.2(EYS):c.2857A>G (p.Asn953Asp) rs1326644818 0.00003
NM_001142800.2(EYS):c.2886C>G (p.Phe962Leu) rs766153322 0.00003
NM_001142800.2(EYS):c.3419G>A (p.Gly1140Glu) rs995707027 0.00003
NM_001142800.2(EYS):c.3793C>T (p.Pro1265Ser) rs1245332279 0.00003
NM_001142800.2(EYS):c.4102G>A (p.Val1368Ile) rs1314888456 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.5330T>C (p.Leu1777Ser) rs947209456 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.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.6151C>T (p.Pro2051Ser) rs1187973861 0.00003
NM_001142800.2(EYS):c.6323G>A (p.Cys2108Tyr) rs770111708 0.00003
NM_001142800.2(EYS):c.6562A>G (p.Ile2188Val) rs184448644 0.00003
NM_001142800.2(EYS):c.7394C>G (p.Thr2465Ser) rs145184183 0.00003
NM_001142800.2(EYS):c.7676C>T (p.Thr2559Ile) rs913910892 0.00003
NM_001142800.2(EYS):c.7820G>T (p.Gly2607Val) rs1328331376 0.00003
NM_001142800.2(EYS):c.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.868T>C (p.Phe290Leu) rs373557623 0.00003
NM_001142800.2(EYS):c.892T>G (p.Cys298Gly) rs375850148 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.-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.1100G>C (p.Cys367Ser) rs935618633 0.00002
NM_001142800.2(EYS):c.1490T>C (p.Ile497Thr) rs1417899816 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.1820A>G (p.Tyr607Cys) rs777062237 0.00002
NM_001142800.2(EYS):c.1835A>G (p.His612Arg) rs1235347965 0.00002
NM_001142800.2(EYS):c.1999C>T (p.Arg667Cys) rs765763663 0.00002
NM_001142800.2(EYS):c.2770C>G (p.Leu924Val) rs1040002337 0.00002
NM_001142800.2(EYS):c.296C>T (p.Pro99Leu) rs1239472721 0.00002
NM_001142800.2(EYS):c.3105T>G (p.Phe1035Leu) rs969468917 0.00002
NM_001142800.2(EYS):c.341G>A (p.Cys114Tyr) rs533909681 0.00002
NM_001142800.2(EYS):c.3503C>T (p.Ser1168Leu) rs894122437 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.3878G>T (p.Gly1293Val) rs763158109 0.00002
NM_001142800.2(EYS):c.4003G>T (p.Ala1335Ser) rs761342525 0.00002
NM_001142800.2(EYS):c.4146C>A (p.Phe1382Leu) rs748931820 0.00002
NM_001142800.2(EYS):c.4160G>A (p.Arg1387Lys) rs1490023696 0.00002
NM_001142800.2(EYS):c.4444G>A (p.Glu1482Lys) rs1022693876 0.00002
NM_001142800.2(EYS):c.4526A>G (p.Asn1509Ser) rs531187735 0.00002
NM_001142800.2(EYS):c.5128A>G (p.Thr1710Ala) rs947358402 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.5903G>A (p.Gly1968Glu) rs754069174 0.00002
NM_001142800.2(EYS):c.6128T>A (p.Ile2043Lys) rs1367602173 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.6934C>G (p.Leu2312Val) rs564315274 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.7315A>T (p.Ser2439Cys) rs1034996144 0.00002
NM_001142800.2(EYS):c.7459G>A (p.Val2487Met) rs1204307982 0.00002
NM_001142800.2(EYS):c.7699G>A (p.Ala2567Thr) rs1208734040 0.00002
NM_001142800.2(EYS):c.7816G>T (p.Val2606Phe) rs1770111408 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.-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.1065G>A (p.Met355Ile) rs1449183516 0.00001
NM_001142800.2(EYS):c.1096C>T (p.Leu366Phe) rs770566051 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.1316G>T (p.Gly439Val) rs1183176426 0.00001
NM_001142800.2(EYS):c.1321A>C (p.Thr441Pro) rs1308471912 0.00001
NM_001142800.2(EYS):c.1381T>A (p.Cys461Ser) rs1471424153 0.00001
NM_001142800.2(EYS):c.1397A>G (p.His466Arg) rs773496819 0.00001
NM_001142800.2(EYS):c.1439T>G (p.Val480Gly) rs1163522025 0.00001
NM_001142800.2(EYS):c.1456G>T (p.Ala486Ser) rs1020404683 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.1568C>T (p.Ser523Leu) rs556989074 0.00001
NM_001142800.2(EYS):c.1591A>C (p.Thr531Pro) rs1260633321 0.00001
NM_001142800.2(EYS):c.1655A>T (p.Tyr552Phe) rs369437226 0.00001
NM_001142800.2(EYS):c.1741T>G (p.Cys581Gly) rs558477347 0.00001
NM_001142800.2(EYS):c.1811A>G (p.Asn604Ser) rs1274107268 0.00001
NM_001142800.2(EYS):c.1867C>A (p.Leu623Ile) rs1359987940 0.00001
NM_001142800.2(EYS):c.1871C>T (p.Ser624Leu) rs548565748 0.00001
NM_001142800.2(EYS):c.2023+5G>A rs1287889008 0.00001
NM_001142800.2(EYS):c.2102G>A (p.Gly701Asp) rs1027731148 0.00001
NM_001142800.2(EYS):c.2113T>C (p.Cys705Arg) rs1327358769 0.00001
NM_001142800.2(EYS):c.2230C>T (p.His744Tyr) rs1458688528 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.2326A>G (p.Lys776Glu) rs1393913948 0.00001
NM_001142800.2(EYS):c.2378A>G (p.Tyr793Cys) rs1248002900 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.2495A>G (p.Gln832Arg) rs1459583624 0.00001
NM_001142800.2(EYS):c.2540A>G (p.His847Arg) rs1460353199 0.00001
NM_001142800.2(EYS):c.2622G>T (p.Gln874His) rs377592930 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.2881C>T (p.Pro961Ser) rs1170138781 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.3069C>G (p.Ile1023Met) rs913116063 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.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.3443G>A (p.Arg1148Lys) rs1334016191 0.00001
NM_001142800.2(EYS):c.3508T>C (p.Cys1170Arg) rs1243635695 0.00001
NM_001142800.2(EYS):c.3688T>A (p.Cys1230Ser) rs1258171232 0.00001
NM_001142800.2(EYS):c.3731C>T (p.Thr1244Ile) rs531860176 0.00001
NM_001142800.2(EYS):c.3877+6T>C rs937888425 0.00001
NM_001142800.2(EYS):c.3922A>G (p.Thr1308Ala) rs1223693086 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.3971T>C (p.Leu1324Pro) rs945529523 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.4190C>A (p.Ser1397Tyr) rs892657143 0.00001
NM_001142800.2(EYS):c.41T>C (p.Phe14Ser) rs767517924 0.00001
NM_001142800.2(EYS):c.4216A>G (p.Thr1406Ala) rs866402714 0.00001
NM_001142800.2(EYS):c.4238A>C (p.Asn1413Thr) rs911102553 0.00001
NM_001142800.2(EYS):c.4300G>A (p.Ala1434Thr) rs748234752 0.00001
NM_001142800.2(EYS):c.4339G>C (p.Gly1447Arg) rs1459655912 0.00001
NM_001142800.2(EYS):c.4432A>G (p.Ile1478Val) rs968087660 0.00001
NM_001142800.2(EYS):c.4478C>T (p.Pro1493Leu) rs763161282 0.00001
NM_001142800.2(EYS):c.4503A>G (p.Ile1501Met) rs765829827 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.47G>T (p.Ser16Ile) rs755010017 0.00001
NM_001142800.2(EYS):c.4805C>T (p.Ala1602Val) rs1353073807 0.00001
NM_001142800.2(EYS):c.4841C>G (p.Ala1614Gly) rs1312195779 0.00001
NM_001142800.2(EYS):c.4843A>G (p.Thr1615Ala) rs566502407 0.00001
NM_001142800.2(EYS):c.487C>T (p.Leu163Phe) rs144074328 0.00001
NM_001142800.2(EYS):c.491G>A (p.Arg164Gln) rs755752918 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.5100A>T (p.Lys1700Asn) rs1267480820 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.5213A>T (p.His1738Leu) rs1766376015 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.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.5591T>A (p.Leu1864His) rs888456388 0.00001
NM_001142800.2(EYS):c.5618T>G (p.Leu1873Arg) rs750613634 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.5755C>T (p.Leu1919Phe) rs1275377315 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.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.5893G>A (p.Val1965Met) rs967520282 0.00001
NM_001142800.2(EYS):c.592T>A (p.Tyr198Asn) rs886061686 0.00001
NM_001142800.2(EYS):c.5953G>A (p.Glu1985Lys) rs1196390028 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.6004G>A (p.Val2002Ile) rs1476439486 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.6104C>A (p.Thr2035Asn) rs1769478067 0.00001
NM_001142800.2(EYS):c.6173A>G (p.Tyr2058Cys) rs1486367630 0.00001
NM_001142800.2(EYS):c.6316G>T (p.Asp2106Tyr) rs369266984 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.6446C>A (p.Ser2149Tyr) rs537922564 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.6489T>G (p.Phe2163Leu) rs1771986869 0.00001
NM_001142800.2(EYS):c.6506A>G (p.His2169Arg) rs1426659267 0.00001
NM_001142800.2(EYS):c.6570C>T (p.Tyr2190=) rs892427334 0.00001
NM_001142800.2(EYS):c.6626G>A (p.Arg2209Lys) rs761797334 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.6724C>G (p.Arg2242Gly) rs990350691 0.00001
NM_001142800.2(EYS):c.6724C>T (p.Arg2242Cys) rs990350691 0.00001
NM_001142800.2(EYS):c.6782A>G (p.Asp2261Gly) rs893275648 0.00001
NM_001142800.2(EYS):c.6827C>T (p.Ala2276Val) rs1054721154 0.00001
NM_001142800.2(EYS):c.6830C>T (p.Ser2277Phe) rs1323615607 0.00001
NM_001142800.2(EYS):c.6850A>G (p.Met2284Val) rs1767268298 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.7003C>T (p.His2335Tyr) rs1343612158 0.00001
NM_001142800.2(EYS):c.7048T>C (p.Cys2350Arg) rs935531910 0.00001
NM_001142800.2(EYS):c.7059T>G (p.Asp2353Glu) rs771265979 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.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.7247C>G (p.Pro2416Arg) rs1355664698 0.00001
NM_001142800.2(EYS):c.7274G>A (p.Gly2425Glu) rs1201593554 0.00001
NM_001142800.2(EYS):c.7300C>T (p.Arg2434Trp) rs1234060098 0.00001
NM_001142800.2(EYS):c.7301G>A (p.Arg2434Gln) rs1316019179 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.7471T>G (p.Tyr2491Asp) rs1306301546 0.00001
NM_001142800.2(EYS):c.7591A>G (p.Lys2531Glu) rs1037212478 0.00001
NM_001142800.2(EYS):c.76C>T (p.Arg26Trp) rs764308269 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.7851G>T (p.Met2617Ile) rs1012336027 0.00001
NM_001142800.2(EYS):c.7861A>G (p.Asn2621Asp) rs1193588140 0.00001
NM_001142800.2(EYS):c.7873T>C (p.Cys2625Arg) rs751128329 0.00001
NM_001142800.2(EYS):c.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.832T>C (p.Phe278Leu) rs773704807 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.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.961C>T (p.Pro321Ser) rs748052858 0.00001
NC_000006.11:g.(?_64430492)_(64436593_?)dup
NC_000006.11:g.(?_64791729)_(64791915_?)dup
NC_000006.11:g.(?_65300096)_(65327446_?)dup
NC_000006.11:g.(?_65611986)_(65622656_?)dup
NC_000006.11:g.(?_65767487)_(65767640_?)del
NC_000006.11:g.(?_65767487)_(65767640_?)dup
NC_000006.11:g.(?_66094259)_(66112518_?)del
NC_000006.11:g.(?_66094259)_(66205886_?)dup
NC_000006.11:g.(?_66204536)_(66205886_?)dup
NC_000006.11:g.(?_66349671)_(66349785_?)del
NC_000006.11:g.(?_66417023)_(66417118_?)dup
NC_000006.12:g.(?_64886697)_(65057727_?)del
NC_000006.12:g.(?_65384386)_(65495410_?)dup
NC_000006.12:g.(?_65490594)_(65495410_?)dup
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>T rs886061687
NM_001142800.2(EYS):c.-401C>A rs1767218301
NM_001142800.2(EYS):c.-404G>T
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.1018C>T (p.Pro340Ser) rs1766677062
NM_001142800.2(EYS):c.1030G>C (p.Gly344Arg)
NM_001142800.2(EYS):c.1055A>C (p.Asn352Thr)
NM_001142800.2(EYS):c.1066T>G (p.Cys356Gly) rs2150363870
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.1081A>G (p.Ile361Val)
NM_001142800.2(EYS):c.1112A>T (p.Gln371Leu)
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.1145A>G (p.Asn382Ser) rs144935927
NM_001142800.2(EYS):c.1146_1147inv (p.Ala383Thr)
NM_001142800.2(EYS):c.1185-3C>T rs1562140876
NM_001142800.2(EYS):c.1189A>G (p.Ile397Val) rs1365596246
NM_001142800.2(EYS):c.1252A>C (p.Asn418His) rs369388425
NM_001142800.2(EYS):c.1262A>G (p.Asn421Ser)
NM_001142800.2(EYS):c.1298A>C (p.Lys433Thr) rs1361667383
NM_001142800.2(EYS):c.1300T>C (p.Tyr434His) rs1764369029
NM_001142800.2(EYS):c.1303G>C (p.Val435Leu) rs748235223
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.1325A>T (p.Lys442Ile) rs758215773
NM_001142800.2(EYS):c.1330C>T (p.Pro444Ser) rs1764367580
NM_001142800.2(EYS):c.1397A>T (p.His466Leu)
NM_001142800.2(EYS):c.1417G>T (p.Gly473Cys)
NM_001142800.2(EYS):c.1418G>T (p.Gly473Val) rs540611114
NM_001142800.2(EYS):c.1429T>C (p.Phe477Leu)
NM_001142800.2(EYS):c.1432G>A (p.Glu478Lys) rs1403117224
NM_001142800.2(EYS):c.1459+4A>G
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.1486G>A (p.Val496Ile)
NM_001142800.2(EYS):c.1492G>A (p.Asp498Asn)
NM_001142800.2(EYS):c.1501T>G (p.Phe501Val)
NM_001142800.2(EYS):c.1519T>C (p.Cys507Arg) rs2150319928
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.1558AAT[1] (p.Asn521del) rs747069281
NM_001142800.2(EYS):c.1578C>G (p.Phe526Leu) rs1770300416
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.1639A>G (p.Ser547Gly) rs1769937284
NM_001142800.2(EYS):c.1651C>T (p.Arg551Trp)
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.1700C>T (p.Thr567Ile)
NM_001142800.2(EYS):c.1702A>G (p.Thr568Ala)
NM_001142800.2(EYS):c.1705G>C (p.Asp569His) rs1582153504
NM_001142800.2(EYS):c.170G>A (p.Cys57Tyr) rs1435232958
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.1742G>A (p.Cys581Tyr) rs2150313605
NM_001142800.2(EYS):c.1750G>A (p.Glu584Lys) rs527236072
NM_001142800.2(EYS):c.175T>G (p.Phe59Val)
NM_001142800.2(EYS):c.1762C>A (p.Pro588Thr)
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.179T>G (p.Leu60Trp)
NM_001142800.2(EYS):c.1800G>T (p.Leu600Phe) rs794727056
NM_001142800.2(EYS):c.1838G>A (p.Ser613Asn)
NM_001142800.2(EYS):c.1856T>A (p.Leu619His)
NM_001142800.2(EYS):c.1877A>G (p.Asn626Ser) rs2150286322
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.1915A>T (p.Ile639Phe) rs2150286286
NM_001142800.2(EYS):c.1918T>C (p.Cys640Arg) rs1768651662
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.1948G>A (p.Ala650Thr)
NM_001142800.2(EYS):c.1949C>T (p.Ala650Val)
NM_001142800.2(EYS):c.1966A>G (p.Thr656Ala)
NM_001142800.2(EYS):c.1967C>T (p.Thr656Ile)
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.2048A>G (p.Asp683Gly)
NM_001142800.2(EYS):c.2098C>G (p.Pro700Ala)
NM_001142800.2(EYS):c.2102G>T (p.Gly701Val) rs1027731148
NM_001142800.2(EYS):c.2134A>G (p.Lys712Glu)
NM_001142800.2(EYS):c.2138-20_2138-16del
NM_001142800.2(EYS):c.2138T>C (p.Val713Ala) rs1771314677
NM_001142800.2(EYS):c.2140G>A (p.Val714Ile) rs1771314601
NM_001142800.2(EYS):c.214C>G (p.Gln72Glu)
NM_001142800.2(EYS):c.2189G>A (p.Cys730Tyr) rs1240334331
NM_001142800.2(EYS):c.2197G>C (p.Asp733His) rs904604158
NM_001142800.2(EYS):c.2206G>A (p.Asp736Asn)
NM_001142800.2(EYS):c.2227G>A (p.Glu743Lys) rs757689268
NM_001142800.2(EYS):c.224C>G (p.Pro75Arg)
NM_001142800.2(EYS):c.2260-3T>G rs2150096134
NM_001142800.2(EYS):c.2287T>G (p.Trp763Gly) rs886061684
NM_001142800.2(EYS):c.2289G>T (p.Trp763Cys) rs1769272826
NM_001142800.2(EYS):c.2299T>C (p.Phe767Leu)
NM_001142800.2(EYS):c.2308C>A (p.Gln770Lys)
NM_001142800.2(EYS):c.2308C>G (p.Gln770Glu) rs992863438
NM_001142800.2(EYS):c.2311G>C (p.Glu771Gln)
NM_001142800.2(EYS):c.2323T>C (p.Cys775Arg) rs1769270016
NM_001142800.2(EYS):c.232T>C (p.Cys78Arg)
NM_001142800.2(EYS):c.2331G>T (p.Met777Ile) rs1769269524
NM_001142800.2(EYS):c.2346C>A (p.Asn782Lys)
NM_001142800.2(EYS):c.2357G>C (p.Cys786Ser) rs1769268250
NM_001142800.2(EYS):c.236C>G (p.Pro79Arg)
NM_001142800.2(EYS):c.2381G>A (p.Arg794Gln)
NM_001142800.2(EYS):c.2383T>A (p.Cys795Ser) rs912541868
NM_001142800.2(EYS):c.2390G>A (p.Cys797Tyr)
NM_001142800.2(EYS):c.2412G>C (p.Gln804His)
NM_001142800.2(EYS):c.2415C>A (p.Asn805Lys) rs2150076923
NM_001142800.2(EYS):c.2427A>C (p.Glu809Asp) rs2150076908
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.2482A>G (p.Thr828Ala) rs1474430377
NM_001142800.2(EYS):c.2483C>G (p.Thr828Ser) rs1768037062
NM_001142800.2(EYS):c.2485A>G (p.Ile829Val)
NM_001142800.2(EYS):c.2486T>C (p.Ile829Thr)
NM_001142800.2(EYS):c.2498T>C (p.Phe833Ser)
NM_001142800.2(EYS):c.2500G>T (p.Val834Leu) rs112464110
NM_001142800.2(EYS):c.2513C>A (p.Pro838Gln)
NM_001142800.2(EYS):c.2515C>T (p.Pro839Ser)
NM_001142800.2(EYS):c.2527G>A (p.Gly843Arg) rs2150076826
NM_001142800.2(EYS):c.2540A>T (p.His847Leu) rs1460353199
NM_001142800.2(EYS):c.2545C>A (p.Arg849Ser)
NM_001142800.2(EYS):c.2551A>C (p.Asn851His)
NM_001142800.2(EYS):c.2554_2555delinsGC (p.Leu852Ala) rs2150076798
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.2589C>G (p.Asn863Lys)
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.2633G>A (p.Cys878Tyr)
NM_001142800.2(EYS):c.2641G>A (p.Glu881Lys) rs1768029780
NM_001142800.2(EYS):c.2642-9T>G
NM_001142800.2(EYS):c.2650G>A (p.Gly884Ser)
NM_001142800.2(EYS):c.2651G>A (p.Gly884Asp)
NM_001142800.2(EYS):c.2671G>A (p.Val891Met)
NM_001142800.2(EYS):c.2738+3A>G
NM_001142800.2(EYS):c.2739G>T (p.Arg913Ser) rs77020971
NM_001142800.2(EYS):c.2777A>T (p.Glu926Val) rs1190624699
NM_001142800.2(EYS):c.2791G>A (p.Glu931Lys)
NM_001142800.2(EYS):c.2816A>G (p.Asn939Ser)
NM_001142800.2(EYS):c.2828G>A (p.Cys943Tyr) rs986462667
NM_001142800.2(EYS):c.283T>G (p.Ser95Ala)
NM_001142800.2(EYS):c.2861G>T (p.Cys954Phe)
NM_001142800.2(EYS):c.2871G>T (p.Glu957Asp) rs1767104470
NM_001142800.2(EYS):c.2881C>G (p.Pro961Ala) rs1170138781
NM_001142800.2(EYS):c.2892A>T (p.Glu964Asp)
NM_001142800.2(EYS):c.2899G>A (p.Val967Ile)
NM_001142800.2(EYS):c.2909G>A (p.Cys970Tyr) rs1767101953
NM_001142800.2(EYS):c.2923T>C (p.Cys975Arg)
NM_001142800.2(EYS):c.2930A>G (p.Asp977Gly) rs1459465709
NM_001142800.2(EYS):c.2932G>A (p.Glu978Lys) rs907697038
NM_001142800.2(EYS):c.2950A>G (p.Arg984Gly) rs1030671986
NM_001142800.2(EYS):c.2980C>G (p.Pro994Ala)
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.3010A>G (p.Asn1004Asp) rs781222768
NM_001142800.2(EYS):c.3023G>A (p.Cys1008Tyr)
NM_001142800.2(EYS):c.3026T>C (p.Leu1009Pro)
NM_001142800.2(EYS):c.3031G>A (p.Glu1011Lys)
NM_001142800.2(EYS):c.3040C>A (p.Leu1014Ile)
NM_001142800.2(EYS):c.3045T>G (p.His1015Gln)
NM_001142800.2(EYS):c.3062A>G (p.Asp1021Gly)
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.3089G>C (p.Cys1030Ser) rs1764936871
NM_001142800.2(EYS):c.3127G>A (p.Ala1043Thr) rs2150022688
NM_001142800.2(EYS):c.3131A>G (p.Asn1044Ser)
NM_001142800.2(EYS):c.3146A>G (p.Asn1049Ser) rs2150022666
NM_001142800.2(EYS):c.3174A>T (p.Glu1058Asp) rs1764904888
NM_001142800.2(EYS):c.3183T>A (p.Asn1061Lys)
NM_001142800.2(EYS):c.3197C>T (p.Ser1066Leu)
NM_001142800.2(EYS):c.3203A>T (p.Asp1068Val)
NM_001142800.2(EYS):c.3221C>T (p.Thr1074Ile)
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.3296A>G (p.His1099Arg)
NM_001142800.2(EYS):c.3299G>A (p.Gly1100Glu)
NM_001142800.2(EYS):c.3311T>C (p.Ile1104Thr) rs1764661327
NM_001142800.2(EYS):c.3317C>T (p.Pro1106Leu) rs1764661002
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.3328A>G (p.Thr1110Ala)
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.3368A>G (p.Glu1123Gly) rs2150016148
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.3391T>C (p.Cys1131Arg) rs1764656337
NM_001142800.2(EYS):c.3429T>G (p.His1143Gln)
NM_001142800.2(EYS):c.3443+4A>C rs2150016072
NM_001142800.2(EYS):c.3444A>T (p.Arg1148Ser) rs1377722024
NM_001142800.2(EYS):c.344T>C (p.Val115Ala)
NM_001142800.2(EYS):c.3473G>A (p.Cys1158Tyr)
NM_001142800.2(EYS):c.3485T>C (p.Ile1162Thr)
NM_001142800.2(EYS):c.3493T>C (p.Cys1165Arg)
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.3550G>A (p.Val1184Ile) rs1767601644
NM_001142800.2(EYS):c.3566C>T (p.Pro1189Leu)
NM_001142800.2(EYS):c.3568G>C (p.Gly1190Arg) rs1767601042
NM_001142800.2(EYS):c.3569-3C>G
NM_001142800.2(EYS):c.3573G>T (p.Trp1191Cys)
NM_001142800.2(EYS):c.3614A>G (p.Asn1205Ser) rs1767311557
NM_001142800.2(EYS):c.362A>G (p.Glu121Gly) rs1766196909
NM_001142800.2(EYS):c.365A>T (p.Asp122Val)
NM_001142800.2(EYS):c.3661T>G (p.Cys1221Gly) rs572419710
NM_001142800.2(EYS):c.3695T>A (p.Ile1232Asn)
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.3715G>A (p.Glu1239Lys)
NM_001142800.2(EYS):c.3723_3725del (p.Arg1242del)
NM_001142800.2(EYS):c.3737T>C (p.Leu1246Ser) rs1766468940
NM_001142800.2(EYS):c.3779C>T (p.Thr1260Ile) rs759438157
NM_001142800.2(EYS):c.3799G>A (p.Glu1267Lys) rs1704195448
NM_001142800.2(EYS):c.3809T>A (p.Val1270Asp) rs368856942
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.3859A>G (p.Thr1287Ala) rs1766463376
NM_001142800.2(EYS):c.386G>C (p.Arg129Thr) rs1224551754
NM_001142800.2(EYS):c.3878G>A (p.Gly1293Asp) rs763158109
NM_001142800.2(EYS):c.3881C>T (p.Pro1294Leu)
NM_001142800.2(EYS):c.3889A>G (p.Thr1297Ala) rs1766427477
NM_001142800.2(EYS):c.3889A>T (p.Thr1297Ser)
NM_001142800.2(EYS):c.3890C>T (p.Thr1297Ile) rs1766427401
NM_001142800.2(EYS):c.3892G>C (p.Gly1298Arg)
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.3946A>T (p.Ser1316Cys) rs1766425225
NM_001142800.2(EYS):c.3952C>T (p.Pro1318Ser) rs1412164023
NM_001142800.2(EYS):c.3959A>G (p.Glu1320Gly)
NM_001142800.2(EYS):c.3973C>A (p.Gln1325Lys) rs12663622
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.4013G>A (p.Ser1338Asn)
NM_001142800.2(EYS):c.4015C>A (p.Leu1339Ile) rs1325494721
NM_001142800.2(EYS):c.4037C>G (p.Ser1346Cys)
NM_001142800.2(EYS):c.4043C>T (p.Ser1348Phe)
NM_001142800.2(EYS):c.4061G>T (p.Gly1354Val) rs1766421024
NM_001142800.2(EYS):c.4066C>T (p.Arg1356Cys)
NM_001142800.2(EYS):c.4069G>T (p.Asp1357Tyr)
NM_001142800.2(EYS):c.4083T>G (p.Ile1361Met)
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.4106C>T (p.Ser1369Leu) rs769949135
NM_001142800.2(EYS):c.4135A>G (p.Thr1379Ala)
NM_001142800.2(EYS):c.4141G>A (p.Gly1381Ser) rs1758206278
NM_001142800.2(EYS):c.4150T>A (p.Phe1384Ile)
NM_001142800.2(EYS):c.4166C>A (p.Ala1389Glu)
NM_001142800.2(EYS):c.4180A>G (p.Ile1394Val)
NM_001142800.2(EYS):c.4196T>C (p.Met1399Thr)
NM_001142800.2(EYS):c.4217C>G (p.Thr1406Arg)
NM_001142800.2(EYS):c.4231T>C (p.Phe1411Leu)
NM_001142800.2(EYS):c.4240T>C (p.Cys1414Arg)
NM_001142800.2(EYS):c.4252G>C (p.Ala1418Pro) rs1766413211
NM_001142800.2(EYS):c.4267C>T (p.Pro1423Ser) rs763400165
NM_001142800.2(EYS):c.4271C>G (p.Thr1424Arg)
NM_001142800.2(EYS):c.4294C>A (p.Pro1432Thr)
NM_001142800.2(EYS):c.4304A>G (p.Asp1435Gly) rs2149832253
NM_001142800.2(EYS):c.4311G>T (p.Glu1437Asp)
NM_001142800.2(EYS):c.4337G>T (p.Arg1446Leu) rs562707818
NM_001142800.2(EYS):c.4373C>G (p.Thr1458Ser)
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.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.4450T>C (p.Trp1484Arg)
NM_001142800.2(EYS):c.4451G>T (p.Trp1484Leu)
NM_001142800.2(EYS):c.4465C>T (p.Pro1489Ser)
NM_001142800.2(EYS):c.4469C>T (p.Ser1490Leu)
NM_001142800.2(EYS):c.4473G>A (p.Met1491Ile)
NM_001142800.2(EYS):c.4477C>A (p.Pro1493Thr) rs2149832076
NM_001142800.2(EYS):c.4495G>A (p.Val1499Ile)
NM_001142800.2(EYS):c.4502T>C (p.Ile1501Thr)
NM_001142800.2(EYS):c.4510C>G (p.Gln1504Glu)
NM_001142800.2(EYS):c.4559C>A (p.Ala1520Asp)
NM_001142800.2(EYS):c.4568C>T (p.Pro1523Leu) rs2149831989
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.4607A>G (p.Gln1536Arg) rs528387472
NM_001142800.2(EYS):c.4624A>G (p.Lys1542Glu)
NM_001142800.2(EYS):c.4639G>T (p.Asp1547Tyr) rs2149831943
NM_001142800.2(EYS):c.463G>A (p.Gly155Ser)
NM_001142800.2(EYS):c.4660C>G (p.Gln1554Glu)
NM_001142800.2(EYS):c.4690A>G (p.Ile1564Val)
NM_001142800.2(EYS):c.4702C>T (p.Arg1568Cys)
NM_001142800.2(EYS):c.4703G>A (p.Arg1568His)
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.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.4759T>C (p.Trp1587Arg)
NM_001142800.2(EYS):c.4766A>T (p.Asn1589Ile)
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.4813_4814delinsGC (p.Ile1605Ala) rs2149831817
NM_001142800.2(EYS):c.4817C>A (p.Thr1606Asn) rs1582929370
NM_001142800.2(EYS):c.483G>A (p.Leu161=) rs748763208
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.4862T>A (p.Val1621Glu) rs2149831762
NM_001142800.2(EYS):c.4867T>A (p.Phe1623Ile)
NM_001142800.2(EYS):c.4880C>T (p.Pro1627Leu)
NM_001142800.2(EYS):c.4883C>T (p.Ser1628Phe) rs1204019770
NM_001142800.2(EYS):c.4897A>G (p.Lys1633Glu)
NM_001142800.2(EYS):c.4927T>G (p.Ser1643Ala)
NM_001142800.2(EYS):c.4941A>C (p.Glu1647Asp) rs1361251812
NM_001142800.2(EYS):c.4943C>A (p.Ser1648Tyr)
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.4967A>G (p.Asp1656Gly)
NM_001142800.2(EYS):c.4972A>G (p.Asn1658Asp) rs1766385108
NM_001142800.2(EYS):c.4985A>G (p.Asp1662Gly)
NM_001142800.2(EYS):c.4999T>A (p.Ser1667Thr)
NM_001142800.2(EYS):c.500T>A (p.Val167Glu)
NM_001142800.2(EYS):c.503C>T (p.Thr168Ile) rs1169272650
NM_001142800.2(EYS):c.5054C>T (p.Ser1685Leu)
NM_001142800.2(EYS):c.5056A>G (p.Lys1686Glu) rs1562079432
NM_001142800.2(EYS):c.505G>A (p.Val169Met)
NM_001142800.2(EYS):c.5087A>C (p.Glu1696Ala) rs1766380689
NM_001142800.2(EYS):c.5116C>A (p.Gln1706Lys)
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.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.5170G>A (p.Asp1724Asn)
NM_001142800.2(EYS):c.5201T>C (p.Leu1734Pro)
NM_001142800.2(EYS):c.5208A>T (p.Lys1736Asn) rs973977663
NM_001142800.2(EYS):c.5251C>G (p.Gln1751Glu) rs1766374212
NM_001142800.2(EYS):c.5261C>T (p.Pro1754Leu)
NM_001142800.2(EYS):c.5263G>A (p.Asp1755Asn) rs772953910
NM_001142800.2(EYS):c.5293A>G (p.Thr1765Ala)
NM_001142800.2(EYS):c.5333C>T (p.Thr1778Ile) rs566440637
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.5366C>T (p.Thr1789Ile) rs2149831184
NM_001142800.2(EYS):c.5374G>C (p.Ala1792Pro) rs901144230
NM_001142800.2(EYS):c.5383A>G (p.Thr1795Ala)
NM_001142800.2(EYS):c.5387T>A (p.Val1796Asp)
NM_001142800.2(EYS):c.5399C>T (p.Pro1800Leu)
NM_001142800.2(EYS):c.53T>C (p.Phe18Ser) rs1766218722
NM_001142800.2(EYS):c.5401G>A (p.Ala1801Thr) rs751705317
NM_001142800.2(EYS):c.5414A>G (p.Gln1805Arg)
NM_001142800.2(EYS):c.5417C>T (p.Thr1806Met)
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.5452C>T (p.Pro1818Ser) rs1316942078
NM_001142800.2(EYS):c.5453C>T (p.Pro1818Leu) rs2149831083
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.5492T>C (p.Val1831Ala)
NM_001142800.2(EYS):c.5504C>T (p.Ser1835Leu)
NM_001142800.2(EYS):c.5506G>A (p.Glu1836Lys) rs1478427973
NM_001142800.2(EYS):c.5506G>C (p.Glu1836Gln)
NM_001142800.2(EYS):c.5554C>G (p.Pro1852Ala) rs1766362938
NM_001142800.2(EYS):c.5575C>A (p.Pro1859Thr)
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.5614A>G (p.Ile1872Val)
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.5645-3C>T rs2150466528
NM_001142800.2(EYS):c.5672A>T (p.Asp1891Val)
NM_001142800.2(EYS):c.5693A>G (p.Asn1898Ser)
NM_001142800.2(EYS):c.569T>A (p.Leu190His)
NM_001142800.2(EYS):c.569T>C (p.Leu190Pro)
NM_001142800.2(EYS):c.5723C>A (p.Ser1908Tyr) rs2150466427
NM_001142800.2(EYS):c.5744G>C (p.Ser1915Thr) rs1774855257
NM_001142800.2(EYS):c.5747C>T (p.Ser1916Phe)
NM_001142800.2(EYS):c.5750A>G (p.Tyr1917Cys)
NM_001142800.2(EYS):c.5782A>G (p.Asn1928Asp) rs1432152673
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.5793T>A (p.Asp1931Glu) rs1774853217
NM_001142800.2(EYS):c.5794G>A (p.Gly1932Arg) rs1319912217
NM_001142800.2(EYS):c.5810T>G (p.Leu1937Trp) rs1774852530
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.5836-3C>A
NM_001142800.2(EYS):c.5839C>T (p.His1947Tyr) rs1774743807
NM_001142800.2(EYS):c.5845T>C (p.Tyr1949His)
NM_001142800.2(EYS):c.5857G>A (p.Glu1953Lys)
NM_001142800.2(EYS):c.585C>G (p.Ser195Arg)
NM_001142800.2(EYS):c.5861C>T (p.Ala1954Val) rs1774743043
NM_001142800.2(EYS):c.5874C>G (p.Ser1958Arg) rs1774742459
NM_001142800.2(EYS):c.5927+5G>C
NM_001142800.2(EYS):c.5927G>C (p.Arg1976Thr) rs2150463897
NM_001142800.2(EYS):c.5928-3C>T
NM_001142800.2(EYS):c.592T>G (p.Tyr198Asp)
NM_001142800.2(EYS):c.5944T>C (p.Cys1982Arg)
NM_001142800.2(EYS):c.5945G>T (p.Cys1982Phe)
NM_001142800.2(EYS):c.5989G>A (p.Glu1997Lys)
NM_001142800.2(EYS):c.5990A>T (p.Glu1997Val) rs1772996635
NM_001142800.2(EYS):c.6003T>G (p.His2001Gln) rs1168554087
NM_001142800.2(EYS):c.6016C>T (p.Pro2006Ser)
NM_001142800.2(EYS):c.6025A>C (p.Lys2009Gln)
NM_001142800.2(EYS):c.602A>G (p.His201Arg) rs1011260787
NM_001142800.2(EYS):c.6035C>T (p.Ser2012Phe)
NM_001142800.2(EYS):c.6050G>A (p.Gly2017Glu)
NM_001142800.2(EYS):c.6061C>T (p.Leu2021Phe) rs2150424923
NM_001142800.2(EYS):c.6066T>G (p.His2022Gln)
NM_001142800.2(EYS):c.6078+3A>G rs1400181347
NM_001142800.2(EYS):c.6078G>C (p.Gln2026His) rs2150424888
NM_001142800.2(EYS):c.6078G>T (p.Gln2026His)
NM_001142800.2(EYS):c.6082C>G (p.Pro2028Ala) rs1769479599
NM_001142800.2(EYS):c.6104C>T (p.Thr2035Ile)
NM_001142800.2(EYS):c.6110G>A (p.Cys2037Tyr)
NM_001142800.2(EYS):c.6110G>T (p.Cys2037Phe) rs1334628225
NM_001142800.2(EYS):c.613C>T (p.Pro205Ser) rs1554202833
NM_001142800.2(EYS):c.615_616delinsCC (p.Phe206Leu) rs2127270983
NM_001142800.2(EYS):c.6160G>C (p.Ala2054Pro)
NM_001142800.2(EYS):c.6170A>G (p.Asn2057Ser) rs2150375946
NM_001142800.2(EYS):c.6197A>G (p.Gln2066Arg)
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.6281G>A (p.Ser2094Asn) rs2150338023
NM_001142800.2(EYS):c.6289G>A (p.Val2097Ile)
NM_001142800.2(EYS):c.6289G>C (p.Val2097Leu)
NM_001142800.2(EYS):c.6296C>T (p.Ala2099Val) rs2150337999
NM_001142800.2(EYS):c.6302C>G (p.Ser2101Cys)
NM_001142800.2(EYS):c.6322T>C (p.Cys2108Arg) rs1766400182
NM_001142800.2(EYS):c.6335G>A (p.Gly2112Asp)
NM_001142800.2(EYS):c.6344A>C (p.His2115Pro) rs1046447869
NM_001142800.2(EYS):c.6346G>T (p.Ala2116Ser) rs781499990
NM_001142800.2(EYS):c.6371T>G (p.Val2124Gly)
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.6438C>A (p.Phe2146Leu) rs578167289
NM_001142800.2(EYS):c.6442C>A (p.Pro2148Thr)
NM_001142800.2(EYS):c.6448T>C (p.Phe2150Leu)
NM_001142800.2(EYS):c.6451A>G (p.Asn2151Asp)
NM_001142800.2(EYS):c.6469G>C (p.Glu2157Gln) rs2149869071
NM_001142800.2(EYS):c.6476C>G (p.Pro2159Arg)
NM_001142800.2(EYS):c.6491T>C (p.Val2164Ala)
NM_001142800.2(EYS):c.6497A>G (p.Glu2166Gly)
NM_001142800.2(EYS):c.6512G>A (p.Arg2171Lys)
NM_001142800.2(EYS):c.6523A>G (p.Ile2175Val) rs1771984821
NM_001142800.2(EYS):c.6531G>C (p.Leu2177Phe)
NM_001142800.2(EYS):c.6557G>C (p.Gly2186Ala)
NM_001142800.2(EYS):c.6575A>T (p.Asn2192Ile) rs750904267
NM_001142800.2(EYS):c.6587G>A (p.Cys2196Tyr)
NM_001142800.2(EYS):c.6589G>A (p.Gly2197Arg)
NM_001142800.2(EYS):c.6602T>C (p.Leu2201Pro) rs2149855751
NM_001142800.2(EYS):c.6605_6613del (p.His2202_Phe2204del) rs1771374961
NM_001142800.2(EYS):c.6613C>T (p.Leu2205Phe)
NM_001142800.2(EYS):c.6634G>C (p.Val2212Leu)
NM_001142800.2(EYS):c.6646T>C (p.Cys2216Arg) rs1239231782
NM_001142800.2(EYS):c.6647G>A (p.Cys2216Tyr)
NM_001142800.2(EYS):c.6671C>T (p.Thr2224Ile) rs1771370733
NM_001142800.2(EYS):c.6725G>A (p.Arg2242His) rs1771368413
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.6767T>G (p.Ile2256Ser) rs1582105077
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.6774G>A (p.Met2258Ile) rs1767966242
NM_001142800.2(EYS):c.677G>A (p.Gly226Asp)
NM_001142800.2(EYS):c.6781G>C (p.Asp2261His) rs1005440976
NM_001142800.2(EYS):c.6808G>C (p.Asp2270His)
NM_001142800.2(EYS):c.6834G>T (p.Gln2278His)
NM_001142800.2(EYS):c.6839A>G (p.Tyr2280Cys)
NM_001142800.2(EYS):c.683G>T (p.Cys228Phe) rs999213534
NM_001142800.2(EYS):c.6847T>C (p.Ser2283Pro)
NM_001142800.2(EYS):c.6853T>C (p.Phe2285Leu) rs2149792407
NM_001142800.2(EYS):c.6889A>G (p.Lys2297Glu)
NM_001142800.2(EYS):c.6899G>T (p.Gly2300Val) rs531588707
NM_001142800.2(EYS):c.6920G>A (p.Gly2307Asp) rs1171456122
NM_001142800.2(EYS):c.6922T>C (p.Cys2308Arg)
NM_001142800.2(EYS):c.6934C>A (p.Leu2312Ile) rs564315274
NM_001142800.2(EYS):c.6938A>C (p.Gln2313Pro)
NM_001142800.2(EYS):c.6948C>G (p.Asn2316Lys)
NM_001142800.2(EYS):c.694A>G (p.Arg232Gly)
NM_001142800.2(EYS):c.6952G>A (p.Glu2318Lys)
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.7010C>T (p.Pro2337Leu)
NM_001142800.2(EYS):c.7013G>T (p.Trp2338Leu)
NM_001142800.2(EYS):c.7019C>A (p.Ala2340Asp) rs1767255412
NM_001142800.2(EYS):c.7048T>A (p.Cys2350Ser) rs935531910
NM_001142800.2(EYS):c.7056-3C>T
NM_001142800.2(EYS):c.7073_7081dup (p.Phe2358_Glu2360dup) rs1372494388
NM_001142800.2(EYS):c.7103A>G (p.Lys2368Arg) rs2149709736
NM_001142800.2(EYS):c.7115T>A (p.Phe2372Tyr)
NM_001142800.2(EYS):c.7117G>C (p.Ala2373Pro) rs372512515
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.716_717delinsGC (p.Ala239Gly)
NM_001142800.2(EYS):c.7184T>G (p.Val2395Gly) rs1389763357
NM_001142800.2(EYS):c.7198T>C (p.Tyr2400His)
NM_001142800.2(EYS):c.7205G>A (p.Arg2402Lys) rs766515998
NM_001142800.2(EYS):c.7251G>T (p.Arg2417Ser) rs572836860
NM_001142800.2(EYS):c.7258G>A (p.Gly2420Ser)
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.7346A>T (p.Gln2449Leu) rs2149678948
NM_001142800.2(EYS):c.734A>G (p.His245Arg)
NM_001142800.2(EYS):c.737C>T (p.Pro246Leu)
NM_001142800.2(EYS):c.7392T>A (p.Phe2464Leu) rs754984757
NM_001142800.2(EYS):c.7423G>A (p.Asp2475Asn) rs140594243
NM_001142800.2(EYS):c.7433T>G (p.Leu2478Arg)
NM_001142800.2(EYS):c.7439T>C (p.Val2480Ala)
NM_001142800.2(EYS):c.7441G>C (p.Gly2481Arg)
NM_001142800.2(EYS):c.744T>G (p.Phe248Leu)
NM_001142800.2(EYS):c.7456A>T (p.Ser2486Cys) rs2149670919
NM_001142800.2(EYS):c.7501A>G (p.Arg2501Gly)
NM_001142800.2(EYS):c.7510C>A (p.Pro2504Thr)
NM_001142800.2(EYS):c.7517A>T (p.Asn2506Ile)
NM_001142800.2(EYS):c.7538C>A (p.Thr2513Asn)
NM_001142800.2(EYS):c.7549G>A (p.Gly2517Ser) rs199754359
NM_001142800.2(EYS):c.7559T>C (p.Phe2520Ser) rs2149670858
NM_001142800.2(EYS):c.7578+3A>G
NM_001142800.2(EYS):c.7578+5A>G rs1770441002
NM_001142800.2(EYS):c.7585G>A (p.Asp2529Asn)
NM_001142800.2(EYS):c.759C>G (p.Cys253Trp)
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.7627G>A (p.Gly2543Ser) rs1770415980
NM_001142800.2(EYS):c.7658G>A (p.Gly2553Asp) rs2149670360
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.769A>G (p.Ile257Val) rs2127266533
NM_001142800.2(EYS):c.7700_7702del (p.Ala2567del) rs371899196
NM_001142800.2(EYS):c.7727G>C (p.Cys2576Ser)
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.7799C>A (p.Pro2600Gln) rs2149664334
NM_001142800.2(EYS):c.7810C>A (p.Arg2604Ser) rs1015857165
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.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.7915G>C (p.Gly2639Arg)
NM_001142800.2(EYS):c.7951A>G (p.Thr2651Ala)
NM_001142800.2(EYS):c.7955G>A (p.Cys2652Tyr) rs1389551814
NM_001142800.2(EYS):c.7973C>T (p.Pro2658Leu)
NM_001142800.2(EYS):c.8041C>G (p.Leu2681Val) rs1769668244
NM_001142800.2(EYS):c.8071+5G>A
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.8104A>C (p.Asn2702His) rs1768627778
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.8128G>T (p.Ala2710Ser) rs750011709
NM_001142800.2(EYS):c.8151G>T (p.Lys2717Asn) rs983603381
NM_001142800.2(EYS):c.8159T>C (p.Ile2720Thr) rs756985941
NM_001142800.2(EYS):c.8162A>C (p.Gln2721Pro)
NM_001142800.2(EYS):c.8185G>A (p.Ala2729Thr)
NM_001142800.2(EYS):c.8189A>G (p.Asp2730Gly) rs1768623734
NM_001142800.2(EYS):c.8203T>C (p.Tyr2735His) rs1768623493
NM_001142800.2(EYS):c.8210C>T (p.Ala2737Val) rs1481779086
NM_001142800.2(EYS):c.8217C>A (p.His2739Gln) rs773389004
NM_001142800.2(EYS):c.8230T>C (p.Ser2744Pro) rs1768622052
NM_001142800.2(EYS):c.839G>T (p.Cys280Phe) rs1766004190
NM_001142800.2(EYS):c.872G>A (p.Cys291Tyr)
NM_001142800.2(EYS):c.877G>T (p.Val293Leu) rs756070544
NM_001142800.2(EYS):c.910T>C (p.Trp304Arg) rs2150365572
NM_001142800.2(EYS):c.919G>A (p.Gly307Arg) rs1766684069
NM_001142800.2(EYS):c.929C>G (p.Pro310Arg)
NM_001142800.2(EYS):c.962C>G (p.Pro321Arg) rs534421846
NM_001142800.2(EYS):c.995A>T (p.Asp332Val)
NM_001142800.2(EYS):c.997G>A (p.Val333Ile)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.