ClinVar Miner

List of variants in gene EYS reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 540
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HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) rs143994166 0.00064
NM_001142800.2(EYS):c.3443+1G>T rs373441420 0.00022
NM_001142800.2(EYS):c.1673G>A (p.Trp558Ter) rs201823777 0.00012
NM_001142800.2(EYS):c.5928-2A>G rs181169439 0.00008
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_001142800.2(EYS):c.881C>G (p.Ser294Ter) rs752683070 0.00007
NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter) rs760798455 0.00006
NM_001142800.2(EYS):c.8107G>T (p.Glu2703Ter) rs184722374 0.00005
NM_001142800.2(EYS):c.4451G>A (p.Trp1484Ter) rs1239854361 0.00004
NM_001142800.2(EYS):c.6557G>A (p.Gly2186Glu) rs527236068 0.00004
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter) rs398123575 0.00004
NM_001142800.2(EYS):c.7492G>C (p.Ala2498Pro) rs1311193836 0.00004
NM_001142800.2(EYS):c.967G>T (p.Gly323Ter) rs746499646 0.00004
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.4120C>T (p.Arg1374Ter) rs928803207 0.00003
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889 0.00003
NM_001142800.2(EYS):c.7228+1G>A rs758899480 0.00003
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter) rs779983752 0.00003
NM_001142800.2(EYS):c.2259+1G>A rs752736741 0.00002
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu) rs74419361 0.00002
NM_001142800.2(EYS):c.2992G>A (p.Gly998Ser) rs1010982936 0.00002
NM_001142800.2(EYS):c.32dup (p.Met12fs) rs779372264 0.00002
NM_001142800.2(EYS):c.511C>T (p.Gln171Ter) rs747865323 0.00002
NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val) rs868349465 0.00002
NM_001142800.2(EYS):c.78_79dup (p.Gln27fs) rs1352380841 0.00002
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter) rs1471994744 0.00001
NM_001142800.2(EYS):c.14C>A (p.Ser5Ter) rs745916400 0.00001
NM_001142800.2(EYS):c.174G>A (p.Trp58Ter) rs1177052380 0.00001
NM_001142800.2(EYS):c.1812del (p.Asn604fs) rs1216698566 0.00001
NM_001142800.2(EYS):c.1982T>A (p.Leu661Ter) rs1295206142 0.00001
NM_001142800.2(EYS):c.2380C>T (p.Arg794Ter) rs371032798 0.00001
NM_001142800.2(EYS):c.2641+2T>C rs960578029 0.00001
NM_001142800.2(EYS):c.2811C>A (p.Cys937Ter) rs1466666397 0.00001
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs) rs878853349 0.00001
NM_001142800.2(EYS):c.2889T>A (p.Cys963Ter) rs989589885 0.00001
NM_001142800.2(EYS):c.2964C>G (p.Tyr988Ter) rs1245121527 0.00001
NM_001142800.2(EYS):c.3003T>A (p.Cys1001Ter) rs1389794536 0.00001
NM_001142800.2(EYS):c.3164+1G>A rs1029564423 0.00001
NM_001142800.2(EYS):c.3970del (p.Leu1324fs) rs1431710414 0.00001
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter) rs930421180 0.00001
NM_001142800.2(EYS):c.4199C>A (p.Ser1400Ter) rs1245304444 0.00001
NM_001142800.2(EYS):c.4219C>T (p.Gln1407Ter) rs1421392730 0.00001
NM_001142800.2(EYS):c.4452G>A (p.Trp1484Ter) rs1428994453 0.00001
NM_001142800.2(EYS):c.4651G>T (p.Glu1551Ter) rs1305702728 0.00001
NM_001142800.2(EYS):c.490C>T (p.Arg164Ter) rs794727631 0.00001
NM_001142800.2(EYS):c.4955C>G (p.Ser1652Ter) rs909730457 0.00001
NM_001142800.2(EYS):c.5054C>G (p.Ser1685Ter) rs1293996279 0.00001
NM_001142800.2(EYS):c.5511G>A (p.Trp1837Ter) rs745574120 0.00001
NM_001142800.2(EYS):c.5644+5G>A rs794727412 0.00001
NM_001142800.2(EYS):c.5857G>T (p.Glu1953Ter) rs137853189 0.00001
NM_001142800.2(EYS):c.6191+1G>A rs1048032321 0.00001
NM_001142800.2(EYS):c.630C>G (p.Tyr210Ter) rs1469481918 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.6490del (p.Val2164fs) rs1163089098 0.00001
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter) rs797045089 0.00001
NM_001142800.2(EYS):c.6563T>C (p.Ile2188Thr) rs1562190751 0.00001
NM_001142800.2(EYS):c.684C>A (p.Cys228Ter) rs1312069480 0.00001
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter) rs1060499783 0.00001
NM_001142800.2(EYS):c.7277dup (p.Tyr2426Ter) rs1303821903 0.00001
NM_001142800.2(EYS):c.7578+1G>A rs1228475082 0.00001
NM_001142800.2(EYS):c.7654del (p.Tyr2551_Val2552insTer) rs1064796020 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.7899C>A (p.Tyr2633Ter) rs1197863938 0.00001
NM_001142800.2(EYS):c.7919G>A (p.Trp2640Ter) rs527236066 0.00001
NM_001142800.2(EYS):c.7943del (p.Thr2648fs) rs1477705832 0.00001
NM_001142800.2(EYS):c.7970del (p.Asp2657fs) rs1477098845 0.00001
NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter) rs527236076 0.00001
NM_001142800.2(EYS):c.8143C>T (p.Arg2715Ter) rs1299355731 0.00001
NM_001142800.2(EYS):c.8168del (p.Gln2723fs) rs1168101857 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.(?_64430660)_(64432714_?)del
NC_000006.11:g.(?_64451796)_(64574261_?)del
NC_000006.11:g.(?_64472344)_(64574261_?)del
NC_000006.11:g.(?_64487889)_(64488083_?)del
NC_000006.11:g.(?_64574069)_(64574261_?)del
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)_(64791905_?)del
NC_000006.11:g.(?_64708958)_(64709086_?)del
NC_000006.11:g.(?_64776211)_(64791915_?)del
NC_000006.11:g.(?_64791739)_(64791905_?)del
NC_000006.11:g.(?_64791739)_(64940727_?)del
NC_000006.11:g.(?_64940465)_(66063530_?)del
NC_000006.11:g.(?_64940475)_(65016985_?)del
NC_000006.11:g.(?_64940475)_(65336148_?)del
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)_(65149255_?)del
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.(?_65300106)_(65707606_?)del
NC_000006.11:g.(?_65301748)_(65303701_?)del
NC_000006.11:g.(?_65327301)_(65336148_?)del
NC_000006.11:g.(?_65523251)_(65612413_?)del
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.(?_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)_(65767640_?)del
NC_000006.11:g.(?_65622357)_(65622656_?)del
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.(?_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.(?_65707475)_(65707596_?)dup
NC_000006.11:g.(?_66005736)_(66006032_?)del
NC_000006.11:g.(?_66005746)_(66042320_?)del
NC_000006.11:g.(?_66005746)_(66115270_?)del
NC_000006.11:g.(?_66005746)_(66417039_?)del
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)_(66417118_?)del
NC_000006.11:g.(?_66094269)_(66205758_?)del
NC_000006.11:g.(?_66112351)_(66112518_?)del
NC_000006.11:g.(?_66112351)_(66205886_?)del
NC_000006.11:g.(?_66112361)_(66115270_?)del
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.(?_66417023)_(66417118_?)del
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.(?_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)_(65057737_?)del
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.(?_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)_(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)_(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.(?_65384376)_(65384510_?)del
NC_000006.12:g.(?_65384386)_(65495410_?)del
NC_000006.12:g.(?_65402468)_(65495865_?)del
NC_000006.12:g.65490708del rs762794153
NM_001142800.2(EYS):c.103C>T (p.Gln35Ter) rs749410700
NM_001142800.2(EYS):c.1052C>A (p.Ser351Ter)
NM_001142800.2(EYS):c.105del (p.Gln35fs) rs1175908615
NM_001142800.2(EYS):c.1068C>A (p.Cys356Ter) rs1766556883
NM_001142800.2(EYS):c.1068dup (p.Ile357fs)
NM_001142800.2(EYS):c.1083_1108del (p.Phe362fs)
NM_001142800.2(EYS):c.10A>T (p.Lys4Ter)
NM_001142800.2(EYS):c.113C>G (p.Ser38Ter)
NM_001142800.2(EYS):c.1182C>A (p.Cys394Ter)
NM_001142800.2(EYS):c.1193C>G (p.Ser398Ter) rs866804139
NM_001142800.2(EYS):c.1211del (p.Asn404fs) rs764163418
NM_001142800.2(EYS):c.1211dup (p.Asn404fs) rs764163418
NM_001142800.2(EYS):c.1234del (p.Cys412fs) rs1765726534
NM_001142800.2(EYS):c.1272G>A (p.Trp424Ter)
NM_001142800.2(EYS):c.1272dup (p.Cys425fs) rs2150351865
NM_001142800.2(EYS):c.1299+5_1299+8del rs1562140604
NM_001142800.2(EYS):c.1300dup (p.Tyr434fs)
NM_001142800.2(EYS):c.1307_1310del (p.Cys436fs)
NM_001142800.2(EYS):c.1328dup (p.Asn443fs) rs1582176424
NM_001142800.2(EYS):c.1335T>A (p.Cys445Ter)
NM_001142800.2(EYS):c.1354del (p.Tyr452fs)
NM_001142800.2(EYS):c.1356C>G (p.Tyr452Ter)
NM_001142800.2(EYS):c.1358_1359del (p.Leu453fs) rs1450999049
NM_001142800.2(EYS):c.1387_1388insA (p.Val463fs) rs2150327232
NM_001142800.2(EYS):c.1400del (p.Gly467fs) rs770403975
NM_001142800.2(EYS):c.1426C>T (p.Gln476Ter) rs1345460401
NM_001142800.2(EYS):c.1442G>A (p.Trp481Ter)
NM_001142800.2(EYS):c.1443G>A (p.Trp481Ter)
NM_001142800.2(EYS):c.1479C>A (p.Cys493Ter) rs774464019
NM_001142800.2(EYS):c.1480C>T (p.Gln494Ter) rs1207818522
NM_001142800.2(EYS):c.1486del (p.Val496fs) rs2150320007
NM_001142800.2(EYS):c.1501_1502del (p.Phe501fs) rs2150319960
NM_001142800.2(EYS):c.1521C>A (p.Cys507Ter) rs1416709406
NM_001142800.2(EYS):c.1536del (p.Tyr513fs) rs2150319909
NM_001142800.2(EYS):c.1575G>A (p.Trp525Ter)
NM_001142800.2(EYS):c.1584dup (p.Glu529Ter) rs1770299906
NM_001142800.2(EYS):c.1603del (p.Cys535fs) rs2150313808
NM_001142800.2(EYS):c.1637_1640del (p.Asp546fs) rs2150313758
NM_001142800.2(EYS):c.1641_1644del (p.Ser547fs) rs752504462
NM_001142800.2(EYS):c.1645G>T (p.Glu549Ter)
NM_001142800.2(EYS):c.1650T>G (p.Tyr550Ter) rs1769936722
NM_001142800.2(EYS):c.1711_1712inv (p.Gln571Ter)
NM_001142800.2(EYS):c.1720G>T (p.Glu574Ter)
NM_001142800.2(EYS):c.173G>A (p.Trp58Ter) rs2127271728
NM_001142800.2(EYS):c.1747_1748del (p.Lys582_Asp583insTer)
NM_001142800.2(EYS):c.1750G>T (p.Glu584Ter) rs527236072
NM_001142800.2(EYS):c.1793_1800dup (p.Cys601fs)
NM_001142800.2(EYS):c.179dup (p.Leu60fs)
NM_001142800.2(EYS):c.1802_1805del (p.Cys601fs)
NM_001142800.2(EYS):c.1803T>A (p.Cys601Ter)
NM_001142800.2(EYS):c.1824del (p.Cys608_Leu609insTer)
NM_001142800.2(EYS):c.1845del (p.Val616fs)
NM_001142800.2(EYS):c.189_195del (p.Asn63fs)
NM_001142800.2(EYS):c.1910_1913del (p.Arg637fs) rs2150286291
NM_001142800.2(EYS):c.1961dup (p.Asn654fs) rs749103801
NM_001142800.2(EYS):c.1963G>T (p.Gly655Ter)
NM_001142800.2(EYS):c.2023+1G>A rs980430860
NM_001142800.2(EYS):c.2055T>A (p.Cys685Ter) rs372354156
NM_001142800.2(EYS):c.2068del (p.Cys690fs)
NM_001142800.2(EYS):c.2109C>G (p.Tyr703Ter) rs377090818
NM_001142800.2(EYS):c.2133_2134insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCGTCGGCCTCCCTAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT (p.Lys712delinsPhePhePhePhePhePheXaaXaaXaaXaaTer)
NM_001142800.2(EYS):c.2133del (p.Phe711fs)
NM_001142800.2(EYS):c.2159T>A (p.Leu720Ter)
NM_001142800.2(EYS):c.216del (p.Ala73fs) rs1459031771
NM_001142800.2(EYS):c.2174_2175del (p.Tyr725fs)
NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter) rs794727120
NM_001142800.2(EYS):c.2259+1G>C rs752736741
NM_001142800.2(EYS):c.2259+1G>T
NM_001142800.2(EYS):c.2275_2276del (p.Cys759fs) rs758506938
NM_001142800.2(EYS):c.2277C>A (p.Cys759Ter)
NM_001142800.2(EYS):c.2289G>A (p.Trp763Ter)
NM_001142800.2(EYS):c.2311G>T (p.Glu771Ter)
NM_001142800.2(EYS):c.232del (p.Cys78fs) rs1468020897
NM_001142800.2(EYS):c.2340C>A (p.Cys780Ter)
NM_001142800.2(EYS):c.2370C>G (p.Tyr790Ter) rs1439242117
NM_001142800.2(EYS):c.2374del (p.Ser792fs) rs2150096054
NM_001142800.2(EYS):c.2410C>T (p.Gln804Ter)
NM_001142800.2(EYS):c.2425G>T (p.Glu809Ter) rs951544417
NM_001142800.2(EYS):c.2439C>A (p.Cys813Ter) rs367546131
NM_001142800.2(EYS):c.2474del (p.His825fs) rs2150076878
NM_001142800.2(EYS):c.2486del (p.Ile829fs) rs2150076869
NM_001142800.2(EYS):c.2499del (p.Phe833fs)
NM_001142800.2(EYS):c.2513del (p.Pro838fs)
NM_001142800.2(EYS):c.2554del (p.Leu852fs) rs2150076802
NM_001142800.2(EYS):c.2579_2580delinsAA (p.Cys860Ter)
NM_001142800.2(EYS):c.2638G>T (p.Glu880Ter) rs2150076741
NM_001142800.2(EYS):c.2641+1G>A rs1768029728
NM_001142800.2(EYS):c.2652dup (p.Lys885Ter) rs1767699695
NM_001142800.2(EYS):c.2657del (p.Asn886fs)
NM_001142800.2(EYS):c.2694del (p.Cys899fs) rs2150071783
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.2748C>A (p.Cys916Ter) rs1391928253
NM_001142800.2(EYS):c.2791G>T (p.Glu931Ter)
NM_001142800.2(EYS):c.2807del (p.Pro936fs)
NM_001142800.2(EYS):c.2811_2830del (p.Lys938fs) rs2150071623
NM_001142800.2(EYS):c.2820_2824del (p.Gly941fs) rs1583277585
NM_001142800.2(EYS):c.2829T>A (p.Cys943Ter)
NM_001142800.2(EYS):c.2845A>T (p.Arg949Ter)
NM_001142800.2(EYS):c.2854dup (p.Cys952fs) rs779877426
NM_001142800.2(EYS):c.289C>T (p.Gln97Ter) rs1766202141
NM_001142800.2(EYS):c.2907del (p.Lys969fs)
NM_001142800.2(EYS):c.2981del (p.Pro994fs) rs1583260302
NM_001142800.2(EYS):c.298G>T (p.Glu100Ter)
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.3024C>A (p.Cys1008Ter) rs1764939836
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.3143C>G (p.Ser1048Ter)
NM_001142800.2(EYS):c.3146del (p.Asn1049fs)
NM_001142800.2(EYS):c.3153del (p.Leu1052fs) rs1764934644
NM_001142800.2(EYS):c.3172G>T (p.Glu1058Ter) rs2150022015
NM_001142800.2(EYS):c.3178_3179del (p.Leu1059_Ile1060insTer)
NM_001142800.2(EYS):c.3201T>A (p.Cys1067Ter) rs2150021992
NM_001142800.2(EYS):c.3213del (p.Thr1072fs)
NM_001142800.2(EYS):c.3280del (p.Cys1094fs)
NM_001142800.2(EYS):c.3298G>T (p.Gly1100Ter)
NM_001142800.2(EYS):c.3349dup (p.Ser1117fs)
NM_001142800.2(EYS):c.3363del (p.Cys1121fs) rs2150016153
NM_001142800.2(EYS):c.3378del (p.Asn1127fs)
NM_001142800.2(EYS):c.3385del (p.Val1129fs) rs2150016133
NM_001142800.2(EYS):c.342T>A (p.Cys114Ter) rs1418930514
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+1G>A rs373441420
NM_001142800.2(EYS):c.3490G>T (p.Glu1164Ter) rs2149856835
NM_001142800.2(EYS):c.3503C>A (p.Ser1168Ter) rs894122437
NM_001142800.2(EYS):c.3561C>A (p.Cys1187Ter) rs1767601438
NM_001142800.2(EYS):c.3562C>T (p.Gln1188Ter) rs2149856749
NM_001142800.2(EYS):c.3567del (p.Gly1190fs) rs1767601116
NM_001142800.2(EYS):c.3573G>A (p.Trp1191Ter) rs1239806410
NM_001142800.2(EYS):c.3581_3582del (p.His1194fs) rs1767312015
NM_001142800.2(EYS):c.3588dup (p.Glu1197Ter) rs2149849545
NM_001142800.2(EYS):c.3618_3619del (p.Val1208fs)
NM_001142800.2(EYS):c.361del (p.Glu121fs) rs1582376560
NM_001142800.2(EYS):c.3656_3657delinsAA (p.Ser1219Ter) rs2149849472
NM_001142800.2(EYS):c.3676G>T (p.Gly1226Ter) rs1405658671
NM_001142800.2(EYS):c.3699del (p.Leu1234fs) rs1318739667
NM_001142800.2(EYS):c.3768_3769dup (p.Ser1257fs) rs2149833352
NM_001142800.2(EYS):c.3775C>T (p.Gln1259Ter) rs1291867456
NM_001142800.2(EYS):c.3783_3784del (p.Thr1262fs) rs2149833339
NM_001142800.2(EYS):c.3789dup (p.Pro1264fs)
NM_001142800.2(EYS):c.3799G>T (p.Glu1267Ter) rs1704195448
NM_001142800.2(EYS):c.3862dup (p.Tyr1288fs) rs2149833264
NM_001142800.2(EYS):c.3874C>T (p.Gln1292Ter)
NM_001142800.2(EYS):c.3877+1G>T
NM_001142800.2(EYS):c.3886C>T (p.Gln1296Ter)
NM_001142800.2(EYS):c.3889_3892del (p.Thr1297fs) rs1766427315
NM_001142800.2(EYS):c.3903del (p.Lys1301fs)
NM_001142800.2(EYS):c.3941del (p.Arg1314fs)
NM_001142800.2(EYS):c.3951_3952del (p.Pro1318fs) rs1270740001
NM_001142800.2(EYS):c.3968T>G (p.Leu1323Ter)
NM_001142800.2(EYS):c.4011_4012del (p.His1337fs) rs2149832523
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.4077del (p.Gln1360fs)
NM_001142800.2(EYS):c.4078C>T (p.Gln1360Ter)
NM_001142800.2(EYS):c.4103dup (p.Ser1369fs)
NM_001142800.2(EYS):c.4116_4117insGC (p.Ile1373fs) rs1582930536
NM_001142800.2(EYS):c.414dup (p.Lys139Ter)
NM_001142800.2(EYS):c.4152dup (p.Pro1385fs) rs1185686653
NM_001142800.2(EYS):c.4154_4155del (p.Pro1385fs) rs1766416713
NM_001142800.2(EYS):c.4195del (p.Met1399fs) rs2149832355
NM_001142800.2(EYS):c.4207del (p.Ile1403fs) rs1766414666
NM_001142800.2(EYS):c.4233del (p.Phe1411fs)
NM_001142800.2(EYS):c.4253del (p.Ala1418fs)
NM_001142800.2(EYS):c.4309G>T (p.Glu1437Ter)
NM_001142800.2(EYS):c.4316del (p.Asn1439fs)
NM_001142800.2(EYS):c.4321C>T (p.Gln1441Ter) rs1766410692
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.4386_4387insGCCT (p.Arg1463delinsAlaTer)
NM_001142800.2(EYS):c.4390_4391insA (p.Gly1464fs)
NM_001142800.2(EYS):c.4392_4393del (p.Ala1465fs)
NM_001142800.2(EYS):c.4393dup (p.Ala1465fs) rs750840208
NM_001142800.2(EYS):c.445dup (p.Ile149fs)
NM_001142800.2(EYS):c.4523T>G (p.Leu1508Ter)
NM_001142800.2(EYS):c.454dup (p.Met152fs) rs1766191833
NM_001142800.2(EYS):c.4557del (p.Ala1520fs) rs768092887
NM_001142800.2(EYS):c.4579C>T (p.Gln1527Ter) rs1490143139
NM_001142800.2(EYS):c.4606C>T (p.Gln1536Ter) rs557152369
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.4655T>G (p.Leu1552Ter) rs1054515897
NM_001142800.2(EYS):c.4665_4666del (p.Ala1557fs)
NM_001142800.2(EYS):c.4760G>A (p.Trp1587Ter) rs2149831862
NM_001142800.2(EYS):c.4761del (p.Phe1586_Trp1587insTer)
NM_001142800.2(EYS):c.4776_4779del (p.Ile1592fs)
NM_001142800.2(EYS):c.4788G>A (p.Trp1596Ter)
NM_001142800.2(EYS):c.4829_4832del (p.Ser1610fs) rs886044304
NM_001142800.2(EYS):c.4841_4863del (p.Ala1614fs) rs2149831757
NM_001142800.2(EYS):c.4859_4862del (p.Ser1620fs) rs1242324755
NM_001142800.2(EYS):c.492_499del (p.Leu165fs) rs1270977202
NM_001142800.2(EYS):c.4951del (p.Leu1651fs)
NM_001142800.2(EYS):c.4955C>A (p.Ser1652Ter) rs909730457
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs) rs527236065
NM_001142800.2(EYS):c.4976T>A (p.Leu1659Ter)
NM_001142800.2(EYS):c.4976T>G (p.Leu1659Ter)
NM_001142800.2(EYS):c.4987_4990dup (p.Thr1664fs)
NM_001142800.2(EYS):c.4997del (p.Leu1666fs)
NM_001142800.2(EYS):c.5012C>A (p.Ser1671Ter)
NM_001142800.2(EYS):c.5033T>A (p.Leu1678Ter)
NM_001142800.2(EYS):c.5084C>G (p.Ser1695Ter)
NM_001142800.2(EYS):c.5110dup (p.Ile1704fs) rs2149831487
NM_001142800.2(EYS):c.5149del (p.Val1716_Leu1717insTer) rs1766378599
NM_001142800.2(EYS):c.5168T>A (p.Leu1723Ter)
NM_001142800.2(EYS):c.5176del (p.Glu1726fs)
NM_001142800.2(EYS):c.5182del (p.Ser1728fs) rs1562079278
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.5251C>T (p.Gln1751Ter)
NM_001142800.2(EYS):c.526G>T (p.Glu176Ter) rs2127271139
NM_001142800.2(EYS):c.5283T>A (p.Tyr1761Ter) rs1158231145
NM_001142800.2(EYS):c.5290dup (p.Ile1764fs) rs761760327
NM_001142800.2(EYS):c.5296del (p.His1766fs) rs2149831278
NM_001142800.2(EYS):c.5303del (p.Asn1768fs)
NM_001142800.2(EYS):c.5330T>A (p.Leu1777Ter)
NM_001142800.2(EYS):c.533dup (p.Ser179fs) rs2127271125
NM_001142800.2(EYS):c.5353dup (p.Ser1785fs)
NM_001142800.2(EYS):c.5417del (p.Thr1806fs)
NM_001142800.2(EYS):c.5450G>A (p.Trp1817Ter) rs983691310
NM_001142800.2(EYS):c.549_558dup (p.Gly187fs)
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.5584_5587dup (p.Ser1863Ter)
NM_001142800.2(EYS):c.5661_5662insAA (p.Tyr1888fs) rs2150466512
NM_001142800.2(EYS):c.5665del (p.Tyr1889fs)
NM_001142800.2(EYS):c.5677_5681del (p.Tyr1893fs)
NM_001142800.2(EYS):c.5683G>T (p.Glu1895Ter)
NM_001142800.2(EYS):c.571dup (p.Ser191fs) rs2127271080
NM_001142800.2(EYS):c.5734C>T (p.Gln1912Ter)
NM_001142800.2(EYS):c.5748del (p.Tyr1917fs) rs1774855104
NM_001142800.2(EYS):c.5751T>A (p.Tyr1917Ter)
NM_001142800.2(EYS):c.5786del (p.Asn1928_Leu1929insTer) rs2150466350
NM_001142800.2(EYS):c.5802dup (p.Ile1935fs) rs1455826633
NM_001142800.2(EYS):c.5834_5835+4del rs1582753394
NM_001142800.2(EYS):c.5834del (p.Lys1945fs) rs774455587
NM_001142800.2(EYS):c.5838C>A (p.Tyr1946Ter)
NM_001142800.2(EYS):c.5841del (p.Tyr1949fs)
NM_001142800.2(EYS):c.5916dup (p.Leu1973fs) rs1774741085
NM_001142800.2(EYS):c.5928-3_5928-1del rs1554152094
NM_001142800.2(EYS):c.5958_5961del (p.Thr1987fs) rs1561965266
NM_001142800.2(EYS):c.5980C>T (p.Gln1994Ter)
NM_001142800.2(EYS):c.6029C>G (p.Ser2010Ter)
NM_001142800.2(EYS):c.6032dup (p.Ser2012fs)
NM_001142800.2(EYS):c.6064_6065dup (p.Gly2023fs) rs2150424909
NM_001142800.2(EYS):c.606C>A (p.Cys202Ter) rs149741810
NM_001142800.2(EYS):c.6073dup (p.Ile2025fs) rs2150424894
NM_001142800.2(EYS):c.607C>T (p.Gln203Ter) rs1766182274
NM_001142800.2(EYS):c.6102del (p.Phe2034fs) rs1582571021
NM_001142800.2(EYS):c.6102dup (p.Thr2035fs) rs1582571021
NM_001142800.2(EYS):c.6131_6134del (p.Asn2044fs) rs2150375968
NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter) rs878853350
NM_001142800.2(EYS):c.6139A>T (p.Arg2047Ter) rs1769476342
NM_001142800.2(EYS):c.6170del (p.Asn2057fs) rs1769471435
NM_001142800.2(EYS):c.6174T>G (p.Tyr2058Ter) rs1769471082
NM_001142800.2(EYS):c.618_619del (p.Ser207fs) rs2127270969
NM_001142800.2(EYS):c.6196del (p.Gln2066fs)
NM_001142800.2(EYS):c.6229_6238del (p.Val2077fs) rs1554220416
NM_001142800.2(EYS):c.6269G>A (p.Trp2090Ter) rs1562263385
NM_001142800.2(EYS):c.6270G>A (p.Trp2090Ter)
NM_001142800.2(EYS):c.6287_6288del (p.Ser2096fs) rs2150338009
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.6324C>A (p.Cys2108Ter) rs1469992138
NM_001142800.2(EYS):c.6369_6376dup (p.Phe2126Ter) rs1766397905
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.6404_6415del (p.Thr2135_Cys2139delinsSer)
NM_001142800.2(EYS):c.6469G>T (p.Glu2157Ter)
NM_001142800.2(EYS):c.6482_6483insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAGAACTGCCCTTTTT (p.Phe2160_Leu2161insPhePhePhePhePhePhePheXaaXaaXaaXaaProLysThrIleLysThrLeuGluGluAsnLeuGlyIleThrIleGlnAspIleGlyValGlyLysAspPheMetSerLysThrProLysAlaMetAlaThrGluLeuProPhe)
NM_001142800.2(EYS):c.6485dup (p.Phe2163fs)
NM_001142800.2(EYS):c.6501_6502del (p.Glu2168fs)
NM_001142800.2(EYS):c.6506del (p.His2169fs)
NM_001142800.2(EYS):c.6552_6553insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAACAAACAGTTTA (p.Asn2185delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer)
NM_001142800.2(EYS):c.6604_6608del (p.His2202fs)
NM_001142800.2(EYS):c.6637A>T (p.Lys2213Ter)
NM_001142800.2(EYS):c.6645del (p.Cys2216fs)
NM_001142800.2(EYS):c.6719_6720del (p.Thr2240fs) rs2149855637
NM_001142800.2(EYS):c.6725+1G>A rs779055763
NM_001142800.2(EYS):c.6729C>G (p.Tyr2243Ter)
NM_001142800.2(EYS):c.6745dup (p.Ser2249fs)
NM_001142800.2(EYS):c.6769G>T (p.Glu2257Ter) rs2149802318
NM_001142800.2(EYS):c.6772dup (p.Met2258fs)
NM_001142800.2(EYS):c.6780del (p.Asp2261fs)
NM_001142800.2(EYS):c.6791dup (p.Pro2265fs) rs1582105016
NM_001142800.2(EYS):c.6794del (p.Pro2265fs) rs758109813
NM_001142800.2(EYS):c.6799C>T (p.Gln2267Ter)
NM_001142800.2(EYS):c.6799_6800del (p.Gln2267fs)
NM_001142800.2(EYS):c.67dup (p.Thr23fs) rs1766217655
NM_001142800.2(EYS):c.6812_6813del (p.Thr2271fs) rs2149802267
NM_001142800.2(EYS):c.6816_6817del (p.Glu2272fs) rs2149802264
NM_001142800.2(EYS):c.6842_6843del (p.Tyr2280_Phe2281insTer) rs1767268980
NM_001142800.2(EYS):c.6880C>T (p.Gln2294Ter) rs1767266871
NM_001142800.2(EYS):c.6920del (p.Gly2307fs)
NM_001142800.2(EYS):c.6922del (p.Cys2308fs)
NM_001142800.2(EYS):c.694del (p.Arg232fs)
NM_001142800.2(EYS):c.6952G>T (p.Glu2318Ter)
NM_001142800.2(EYS):c.697G>T (p.Glu233Ter) rs866997713
NM_001142800.2(EYS):c.7013G>A (p.Trp2338Ter) rs1231505438
NM_001142800.2(EYS):c.7016del (p.Cys2339fs) rs2149792238
NM_001142800.2(EYS):c.7048del (p.Cys2350fs) rs527236069
NM_001142800.2(EYS):c.7085del (p.Pro2362fs)
NM_001142800.2(EYS):c.712C>T (p.Gln238Ter) rs1212010105
NM_001142800.2(EYS):c.7194C>A (p.Cys2398Ter) rs2149709686
NM_001142800.2(EYS):c.7243C>T (p.Gln2415Ter)
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.7326T>G (p.Tyr2442Ter) rs1770906719
NM_001142800.2(EYS):c.732T>A (p.Cys244Ter) rs1562220891
NM_001142800.2(EYS):c.7361_7362dup (p.Ser2455fs)
NM_001142800.2(EYS):c.737del (p.Pro246fs) rs2127270768
NM_001142800.2(EYS):c.7385dup (p.Phe2463fs)
NM_001142800.2(EYS):c.7392dup (p.Thr2465fs) rs1770904723
NM_001142800.2(EYS):c.7430_7433del (p.Phe2477fs)
NM_001142800.2(EYS):c.7447dup (p.Leu2483fs)
NM_001142800.2(EYS):c.7460_7461del (p.Val2487fs)
NM_001142800.2(EYS):c.748G>T (p.Gly250Ter)
NM_001142800.2(EYS):c.7540_7541del (p.Val2514fs) rs2149670871
NM_001142800.2(EYS):c.7550_7554del (p.Gly2517fs)
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.7583del (p.Asp2528fs)
NM_001142800.2(EYS):c.7597A>T (p.Lys2533Ter) rs114512007
NM_001142800.2(EYS):c.7624del (p.Val2542fs)
NM_001142800.2(EYS):c.7645_7646del (p.Gln2549fs) rs2149670368
NM_001142800.2(EYS):c.7696G>T (p.Gly2566Ter)
NM_001142800.2(EYS):c.7708A>T (p.Lys2570Ter)
NM_001142800.2(EYS):c.7723+1G>A rs1770412895
NM_001142800.2(EYS):c.7723+2T>G rs2149670301
NM_001142800.2(EYS):c.7736_7742del (p.Thr2579fs) rs1431427428
NM_001142800.2(EYS):c.7746_7762del (p.Arg2583fs)
NM_001142800.2(EYS):c.775C>T (p.Gln259Ter)
NM_001142800.2(EYS):c.7798_7802del (p.Pro2600fs) rs1770112191
NM_001142800.2(EYS):c.786dup (p.His263fs) rs1766009155
NM_001142800.2(EYS):c.7888del (p.Thr2630fs) rs2149664241
NM_001142800.2(EYS):c.7943_7944del (p.Thr2648fs) rs1278985995
NM_001142800.2(EYS):c.7953del (p.Cys2652fs)
NM_001142800.2(EYS):c.7990A>T (p.Arg2664Ter)
NM_001142800.2(EYS):c.8008del (p.Ser2670fs)
NM_001142800.2(EYS):c.8015del (p.Pro2672fs)
NM_001142800.2(EYS):c.8031T>A (p.Cys2677Ter)
NM_001142800.2(EYS):c.803del (p.Gly268fs) rs1766006937
NM_001142800.2(EYS):c.8098A>T (p.Arg2700Ter)
NM_001142800.2(EYS):c.8102del (p.Ser2701fs) rs2149631907
NM_001142800.2(EYS):c.810C>A (p.Cys270Ter) rs2127266443
NM_001142800.2(EYS):c.810del (p.Asn269_Cys270insTer)
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs) rs751629543
NM_001142800.2(EYS):c.8150del (p.Lys2717fs) rs1251637752
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.8189dup (p.Asp2730fs) rs2149631777
NM_001142800.2(EYS):c.8223del (p.Ala2742fs)
NM_001142800.2(EYS):c.8233+1del rs1768621880
NM_001142800.2(EYS):c.910dup (p.Trp304fs) rs34676630
NM_001142800.2(EYS):c.91G>T (p.Glu31Ter) rs572189652
NM_001142800.2(EYS):c.942del (p.Ala315fs)
NM_001142800.2(EYS):c.962del (p.Pro321fs)
NM_001142800.2(EYS):c.975del (p.Ser326fs)
NM_001142800.2(EYS):c.984del (p.Asn328fs) rs1766679809
NM_001142800.2(EYS):c.990_991del (p.Glu330fs) rs1766679390

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