ClinVar Miner

List of variants in gene EYS

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 380
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HGVS dbSNP
EYS, 1-BP DEL, 6714T
GRCh37/hg19 6q12(chr6:64658077-64695023)x1
GRCh37/hg19 6q12(chr6:64662711-64668193)x0
GRCh37/hg19 6q12(chr6:64667045-64680963)x0
GRCh37/hg19 6q12(chr6:64667045-64693014)x1
GRCh37/hg19 6q12(chr6:64763755-64824952)x1
GRCh37/hg19 6q12(chr6:65187445-65227097)x1
GRCh37/hg19 6q12(chr6:65286642-65952313)x1
GRCh37/hg19 6q12(chr6:65307434-65328120)x1
GRCh37/hg19 6q12(chr6:65347424-65354108)x0
GRCh37/hg19 6q12(chr6:65347533-65365420)x3
GRCh37/hg19 6q12(chr6:65530342-65636572)x1
GRCh37/hg19 6q12(chr6:65564377-65671149)x1
GRCh37/hg19 6q12(chr6:65635578-65734358)x1
GRCh37/hg19 6q12(chr6:65663393-65904168)x1
GRCh37/hg19 6q12(chr6:65671147-65927334)x3
GRCh37/hg19 6q12(chr6:65711755-65726738)x1
GRCh37/hg19 6q12(chr6:65715716-65836765)x1
GRCh37/hg19 6q12(chr6:65731552-65865552)x1
GRCh37/hg19 6q12(chr6:65763048-65790983)x1
GRCh37/hg19 6q12(chr6:65786994-65814638)x1
GRCh37/hg19 6q12(chr6:65825391-65918649)x1
GRCh37/hg19 6q12(chr6:65828853-65910600)x1
GRCh37/hg19 6q12(chr6:65854590-65972753)x3
GRCh37/hg19 6q12(chr6:65903328-65910600)x1
GRCh37/hg19 6q12(chr6:65909976-65910600)x1
GRCh37/hg19 6q12(chr6:66377946-66442496)x3
GRCh37/hg19 6q12(chr6:66391650-66506140)x1
GRCh37/hg19 6q12(chr6:66397288-66405466)x3
GRCh37/hg19 6q12(chr6:66402855-66404622)x3
GRCh37/hg19 6q12(chr6:66402855-66405466)x3
GRCh37/hg19 6q12(chr6:66402855-66414828)x4
GRCh37/hg19 6q12(chr6:66403264-66414828)x3
GRCh38/hg38 6q12(chr6:64668014-65108966)x1
GRCh38/hg38 6q12(chr6:64725183-64994323)x1
GRCh38/hg38 6q12(chr6:65084129-65104371)x1
NC_000006.11:g.(?_65327301)_(65327436_?)del
NC_000006.11:g.(?_65611996)_(65655817_?)del
NC_000006.11:g.(?_66094269)_(66094403_?)del
NC_000006.11:g.65133931_65156120dup
NM_001142800.1(EYS):c.(2023+1_2024-1)_(3443+1_3444-1)del
NM_001142800.1(EYS):c.(2137+1_2138-1)_(2259+1_2260-1)dup
NM_001142800.1(EYS):c.(2259+1_2260-1)_(2381+1_?)del
NM_001142800.1(EYS):c.(2641+1_2642-1)_(2846+1_2847-1)del
NM_001142800.1(EYS):c.(3243+1_3244-1)_(3443+1_3444-1)dup
NM_001142800.1(EYS):c.(6078+1_6079-1)_(6191+1_6192-1)dup
NM_001142800.1(EYS):c.(6424+1_6425-1)_(6571+1_6572-1)del
NM_001142800.1(EYS):c.(748+1_749-1)_(1299+1_1300-1)del
NM_001142800.1(EYS):c.1460-5dupT rs771064426
NM_001142800.1(EYS):c.2023+15delT rs35045551
NM_001142800.1(EYS):c.2023+15dupT rs35045551
NM_001142800.1(EYS):c.2024-15dup rs202085379
NM_001142800.1(EYS):c.2260-51191_2992+45990del
NM_001142800.1(EYS):c.3112_3113ins12 (p.?) rs1554207076
NM_001142800.1(EYS):c.3877+18_3877+22delAGATA rs139235690
NM_001142800.1(EYS):c.6079-4_6079-3delTC rs35395170
NM_001142800.1(EYS):c.[3906C>A;9405T>A]
NM_001142800.1:c.(2023+1_2024-1)_(3443+1_3444-1)del
NM_001142800.1:c.(2137+1_2138-1)_(2259+1_2260-1)dup
NM_001142800.2(EYS):c.*412del rs571843718
NM_001142800.2(EYS):c.*529A>C rs193035948
NM_001142800.2(EYS):c.*98A>G rs886061663
NM_001142800.2(EYS):c.-200G>A rs368932132
NM_001142800.2(EYS):c.-207A>G rs370140172
NM_001142800.2(EYS):c.-272T>C rs747914953
NM_001142800.2(EYS):c.-332-10C>T rs868706829
NM_001142800.2(EYS):c.-337T>A rs145321084
NM_001142800.2(EYS):c.-350G>A rs886061687
NM_001142800.2(EYS):c.-407C>G rs137924872
NM_001142800.2(EYS):c.-414G>A rs181146743
NM_001142800.2(EYS):c.-459C>T rs144371265
NM_001142800.2(EYS):c.-495T>C rs886061688
NM_001142800.2(EYS):c.-500A>G rs1490127
NM_001142800.2(EYS):c.-521C>T rs769167992
NM_001142800.2(EYS):c.-68C>T rs530118054
NM_001142800.2(EYS):c.103C>T (p.Gln35Ter)
NM_001142800.2(EYS):c.1057-1G>A
NM_001142800.2(EYS):c.1082T>C (p.Ile361Thr) rs201059400
NM_001142800.2(EYS):c.1145A>T (p.Asn382Ile) rs144935927
NM_001142800.2(EYS):c.1146T>C (p.Asn382=) rs974110
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) rs143994166
NM_001142800.2(EYS):c.1161del (p.Lys387fs) rs1562154478
NM_001142800.2(EYS):c.1184+14T>C rs182780299
NM_001142800.2(EYS):c.1185-3C>T rs1562140876
NM_001142800.2(EYS):c.1211del (p.Asn404fs) rs764163418
NM_001142800.2(EYS):c.1211dup (p.Asn404fs)
NM_001142800.2(EYS):c.1218G>T (p.Glu406Asp) rs201331309
NM_001142800.2(EYS):c.1232A>G (p.His411Arg) rs886061685
NM_001142800.2(EYS):c.1274G>A (p.Cys425Tyr) rs1064796021
NM_001142800.2(EYS):c.1299+5_1299+8del rs1562140604
NM_001142800.2(EYS):c.1300-3C>T rs1936439
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter) rs1471994744
NM_001142800.2(EYS):c.1345A>T (p.Lys449Ter) rs527236077
NM_001142800.2(EYS):c.1426C>T (p.Gln476Ter)
NM_001142800.2(EYS):c.1459+5C>T rs200387978
NM_001142800.2(EYS):c.1472A>C (p.Glu491Ala) rs759752693
NM_001142800.2(EYS):c.1499dup (p.Tyr500Ter) rs1562109990
NM_001142800.2(EYS):c.1599+13T>C rs182876572
NM_001142800.2(EYS):c.1660T>A (p.Cys554Ser) rs145102275
NM_001142800.2(EYS):c.1673G>A (p.Trp558Ter) rs201823777
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg) rs61753610
NM_001142800.2(EYS):c.1750G>T (p.Glu584Ter) rs527236072
NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly) rs778030177
NM_001142800.2(EYS):c.1766+1G>T
NM_001142800.2(EYS):c.1766+2598del rs765911767
NM_001142800.2(EYS):c.1799T>G (p.Leu600Trp) rs794727057
NM_001142800.2(EYS):c.179del (p.Leu60fs) rs786205652
NM_001142800.2(EYS):c.1800G>T (p.Leu600Phe) rs794727056
NM_001142800.2(EYS):c.1809C>T (p.Val603=) rs9345601
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser) rs142450703
NM_001142800.2(EYS):c.1871C>T (p.Ser624Leu) rs548565748
NM_001142800.2(EYS):c.1891G>A (p.Gly631Ser) rs9342464
NM_001142800.2(EYS):c.1899A>G (p.Gln633=) rs373197894
NM_001142800.2(EYS):c.1922A>T (p.Glu641Val) rs17411795
NM_001142800.2(EYS):c.1950G>A (p.Ala650=) rs565864295
NM_001142800.2(EYS):c.1985G>T (p.Arg662Met) rs144430026
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.2(EYS):c.2000G>T (p.Arg667Leu) rs549456693
NM_001142800.2(EYS):c.2023+5G>T
NM_001142800.2(EYS):c.2024-14C>T rs45628235
NM_001142800.2(EYS):c.2024-14_2024-13insT rs142590049
NM_001142800.2(EYS):c.2027C>T (p.Thr676Met) rs199944222
NM_001142800.2(EYS):c.2039T>C (p.Ile680Thr) rs376807770
NM_001142800.2(EYS):c.2055T>A (p.Cys685Ter) rs372354156
NM_001142800.2(EYS):c.2137+1G>A rs199740930
NM_001142800.2(EYS):c.2157C>T (p.Cys719=) rs9453148
NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter) rs794727120
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272
NM_001142800.2(EYS):c.2259+10C>T rs78511049
NM_001142800.2(EYS):c.2259+1G>A rs752736741
NM_001142800.2(EYS):c.2260-2dup rs1554220492
NM_001142800.2(EYS):c.2260-7C>T rs532797776
NM_001142800.2(EYS):c.2287T>C (p.Trp763Arg) rs886061684
NM_001142800.2(EYS):c.2309A>C (p.Gln770Pro) rs398123574
NM_001142800.2(EYS):c.232del (p.Cys78fs)
NM_001142800.2(EYS):c.2380C>T (p.Arg794Ter)
NM_001142800.2(EYS):c.2499T>G (p.Phe833Leu) rs1554217626
NM_001142800.2(EYS):c.2500G>A (p.Val834Ile) rs112464110
NM_001142800.2(EYS):c.2511C>T (p.Cys837=) rs999155902
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu)
NM_001142800.2(EYS):c.2555T>C (p.Leu852Pro) rs9294631
NM_001142800.2(EYS):c.2562C>T (p.Asp854=) rs188011013
NM_001142800.2(EYS):c.2613C>T (p.Asp871=) rs192059823
NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter) rs760798455
NM_001142800.2(EYS):c.2641+8C>A rs886061683
NM_001142800.2(EYS):c.2710_2726del (p.Asp904fs) rs878853253
NM_001142800.2(EYS):c.2733T>C (p.Asn911=) rs75634595
NM_001142800.2(EYS):c.2738+13T>C rs886061682
NM_001142800.2(EYS):c.2739G>A (p.Arg913=) rs77020971
NM_001142800.2(EYS):c.2811C>A (p.Cys937Ter) rs1466666397
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg) rs367857088
NM_001142800.2(EYS):c.281C>A (p.Pro94Gln) rs111947397
NM_001142800.2(EYS):c.2822G>T (p.Gly941Val) rs749101387
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs) rs878853349
NM_001142800.2(EYS):c.2886C>G (p.Phe962Leu) rs766153322
NM_001142800.2(EYS):c.2890G>A (p.Glu964Lys) rs886061681
NM_001142800.2(EYS):c.2892A>C (p.Glu964Asp) rs762212630
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) rs201819948
NM_001142800.2(EYS):c.2975G>T (p.Cys992Phe) rs566917467
NM_001142800.2(EYS):c.2976T>A (p.Cys992Ter) rs1554214453
NM_001142800.2(EYS):c.2992+12T>A rs1064794365
NM_001142800.2(EYS):c.2992+9A>G rs886061680
NM_001142800.2(EYS):c.3081C>T (p.Thr1027=) rs1554207086
NM_001142800.2(EYS):c.3164+8T>C rs1385606496
NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro) rs778646190
NM_001142800.2(EYS):c.3329C>G (p.Thr1110Ser) rs143327210
NM_001142800.2(EYS):c.3345A>G (p.Glu1115=) rs114282214
NM_001142800.2(EYS):c.334G>A (p.Val112Ile) rs112609906
NM_001142800.2(EYS):c.334G>C (p.Val112Leu) rs112609906
NM_001142800.2(EYS):c.3352A>G (p.Ile1118Val) rs886061679
NM_001142800.2(EYS):c.3443+1G>T rs373441420
NM_001142800.2(EYS):c.3444-5C>T rs9445051
NM_001142800.2(EYS):c.3454G>A (p.Gly1152Arg) rs371491059
NM_001142800.2(EYS):c.3489T>A (p.Asn1163Lys) rs150951106
NM_001142800.2(EYS):c.350del (p.Asn117fs)
NM_001142800.2(EYS):c.3568+5T>C rs539477235
NM_001142800.2(EYS):c.359C>T (p.Thr120Met) rs12193967
NM_001142800.2(EYS):c.361del (p.Glu121fs)
NM_001142800.2(EYS):c.3684+2T>A rs1562094391
NM_001142800.2(EYS):c.3690C>T (p.Cys1230=) rs886061678
NM_001142800.2(EYS):c.3695T>C (p.Ile1232Thr) rs146413074
NM_001142800.2(EYS):c.3699del (p.Leu1234fs) rs1318739667
NM_001142800.2(EYS):c.3775C>T (p.Gln1259Ter) rs1291867456
NM_001142800.2(EYS):c.3787A>G (p.Ile1263Val) rs17404123
NM_001142800.2(EYS):c.3855G>T (p.Met1285Ile) rs886061677
NM_001142800.2(EYS):c.3878-2A>G rs752930400
NM_001142800.2(EYS):c.3905A>G (p.His1302Arg) rs886061676
NM_001142800.2(EYS):c.3906C>T (p.His1302=) rs12663916
NM_001142800.2(EYS):c.3936A>G (p.Thr1312=) rs12662610
NM_001142800.2(EYS):c.3958G>A (p.Glu1320Lys) rs1554183636
NM_001142800.2(EYS):c.3973C>G (p.Gln1325Glu) rs12663622
NM_001142800.2(EYS):c.4026C>T (p.Ser1342=) rs12663619
NM_001142800.2(EYS):c.4039T>C (p.Ser1347Pro) rs727503923
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter) rs930421180
NM_001142800.2(EYS):c.4052T>G (p.Leu1351Arg) rs759027016
NM_001142800.2(EYS):c.4081A>G (p.Ile1361Val) rs17403955
NM_001142800.2(EYS):c.4093A>G (p.Lys1365Glu) rs16895519
NM_001142800.2(EYS):c.4116_4117insGC (p.Ile1373fs)
NM_001142800.2(EYS):c.4152del (p.Pro1385fs) rs1185686653
NM_001142800.2(EYS):c.4256T>C (p.Leu1419Ser) rs624851
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.4352T>C (p.Ile1451Thr) rs62415828
NM_001142800.2(EYS):c.4387del (p.Arg1463fs) rs527236075
NM_001142800.2(EYS):c.4393dup (p.Ala1465fs) rs750840208
NM_001142800.2(EYS):c.4395_4402dup (p.Asp1468fs) rs527236073
NM_001142800.2(EYS):c.4402G>C (p.Asp1468His) rs778752557
NM_001142800.2(EYS):c.4440A>G (p.Arg1480=) rs886061675
NM_001142800.2(EYS):c.4519A>G (p.Ile1507Val) rs1373400697
NM_001142800.2(EYS):c.4543C>T (p.Arg1515Trp) rs62415827
NM_001142800.2(EYS):c.4549A>G (p.Ser1517Gly) rs62415826
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=) rs772339340
NM_001142800.2(EYS):c.4593G>A (p.Glu1531=) rs62415825
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.4608_4609GA[1] (p.Arg1537fs) rs886042613
NM_001142800.2(EYS):c.4663A>G (p.Thr1555Ala) rs886061674
NM_001142800.2(EYS):c.4825_4828CATT[1] (p.Ser1610fs) rs886044304
NM_001142800.2(EYS):c.4864G>A (p.Ala1622Thr) rs533075374
NM_001142800.2(EYS):c.4891C>T (p.Pro1631Ser) rs200935518
NM_001142800.2(EYS):c.490C>T (p.Arg164Ter) rs794727631
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs) rs527236065
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val) rs147641443
NM_001142800.2(EYS):c.5014C>T (p.Gln1672Ter) rs527236074
NM_001142800.2(EYS):c.5044G>T (p.Asp1682Tyr) rs75831552
NM_001142800.2(EYS):c.5140A>C (p.Thr1714Pro) rs201916371
NM_001142800.2(EYS):c.5167_5168del (p.Leu1723fs) rs1562079314
NM_001142800.2(EYS):c.5194C>G (p.His1732Asp) rs1554183468
NM_001142800.2(EYS):c.5202_5203del (p.Phe1735fs) rs527236071
NM_001142800.2(EYS):c.5243T>A (p.Leu1748Ter)
NM_001142800.2(EYS):c.5244A>C (p.Leu1748Phe) rs57312007
NM_001142800.2(EYS):c.5317_5342delinsTA (p.Asn1773_Val1781delinsTer) rs1554183440
NM_001142800.2(EYS):c.5335G>A (p.Gly1779Ser) rs186499459
NM_001142800.2(EYS):c.5408C>G (p.Ser1803Ter) rs1554183432
NM_001142800.2(EYS):c.5409A>G (p.Ser1803=) rs886061673
NM_001142800.2(EYS):c.5474C>A (p.Thr1825Asn) rs182151153
NM_001142800.2(EYS):c.5487A>G (p.Lys1829=) rs373872866
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser) rs199689193
NM_001142800.2(EYS):c.5601T>C (p.Ser1867=) rs182322608
NM_001142800.2(EYS):c.5617C>G (p.Leu1873Val) rs16895517
NM_001142800.2(EYS):c.5618T>G (p.Leu1873Arg) rs750613634
NM_001142800.2(EYS):c.5644+5G>A rs794727412
NM_001142800.2(EYS):c.5644+7T>G rs539437238
NM_001142800.2(EYS):c.5645-8C>T rs886044616
NM_001142800.2(EYS):c.5705A>T (p.Asn1902Ile) rs9353806
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly) rs188093810
NM_001142800.2(EYS):c.5777A>G (p.Asp1926Gly) rs727503922
NM_001142800.2(EYS):c.5830T>A (p.Leu1944Ile) rs1232523835
NM_001142800.2(EYS):c.5834_5835+4del
NM_001142800.2(EYS):c.5857G>T (p.Glu1953Ter) rs137853189
NM_001142800.2(EYS):c.5883T>G (p.Thr1961=) rs779530881
NM_001142800.2(EYS):c.5928-2A>G rs181169439
NM_001142800.2(EYS):c.5928-3_5928-1del rs1554152094
NM_001142800.2(EYS):c.592T>A (p.Tyr198Asn) rs886061686
NM_001142800.2(EYS):c.5977A>G (p.Thr1993Ala) rs115066356
NM_001142800.2(EYS):c.6025A>G (p.Lys2009Glu) rs559078881
NM_001142800.2(EYS):c.602A>G (p.His201Arg) rs1011260787
NM_001142800.2(EYS):c.6047G>A (p.Gly2016Asp) rs886061672
NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val)
NM_001142800.2(EYS):c.6079_6191del (p.Met2027Ilefs)
NM_001142800.2(EYS):c.6102del (p.Phe2034fs)
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp) rs201580493
NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter) rs878853350
NM_001142800.2(EYS):c.613C>T (p.Pro205Ser) rs1554202833
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.6269G>A (p.Trp2090Ter) rs1562263385
NM_001142800.2(EYS):c.6284C>T (p.Pro2095Leu) rs200374024
NM_001142800.2(EYS):c.6323G>A (p.Cys2108Tyr) rs770111708
NM_001142800.2(EYS):c.632G>T (p.Cys211Phe) rs772707303
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863
NM_001142800.2(EYS):c.6473T>C (p.Leu2158Pro) rs777735735
NM_001142800.2(EYS):c.6475C>T (p.Pro2159Ser) rs727503921
NM_001142800.2(EYS):c.6502G>T (p.Glu2168Ter) rs1554204963
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter) rs797045089
NM_001142800.2(EYS):c.6545del (p.Asn2182fs) rs1346842287
NM_001142800.2(EYS):c.6547A>G (p.Ser2183Gly) rs368458853
NM_001142800.2(EYS):c.6557G>A (p.Gly2186Glu) rs527236068
NM_001142800.2(EYS):c.6562A>G (p.Ile2188Val) rs184448644
NM_001142800.2(EYS):c.6591_6594del (p.Lys2198fs)
NM_001142800.2(EYS):c.6623G>A (p.Gly2208Glu)
NM_001142800.2(EYS):c.6632C>T (p.Ser2211Leu) rs145623359
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889
NM_001142800.2(EYS):c.6725+9T>C rs886061671
NM_001142800.2(EYS):c.6726-24613G>T rs151229098
NM_001142800.2(EYS):c.6726-2973_6834+548del
NM_001142800.2(EYS):c.6791dup (p.Pro2265fs)
NM_001142800.2(EYS):c.6794del (p.Pro2265fs) rs758109813
NM_001142800.2(EYS):c.6899G>T (p.Gly2300Val) rs531588707
NM_001142800.2(EYS):c.6934C>T (p.Leu2312Phe) rs564315274
NM_001142800.2(EYS):c.6937C>T (p.Gln2313Ter) rs1554194404
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter) rs1060499783
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln) rs4710457
NM_001142800.2(EYS):c.7034G>A (p.Arg2345His) rs201304559
NM_001142800.2(EYS):c.7048del (p.Cys2350fs) rs527236069
NM_001142800.2(EYS):c.7055+1G>A
NM_001142800.2(EYS):c.7056-15T>A rs139056492
NM_001142800.2(EYS):c.7073_7081dup (p.Phe2358_Glu2360dup) rs1372494388
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter) rs398123575
NM_001142800.2(EYS):c.7124G>T (p.Cys2375Phe) rs1554182987
NM_001142800.2(EYS):c.7202G>C (p.Gly2401Ala) rs886061670
NM_001142800.2(EYS):c.7205G>A (p.Arg2402Lys) rs766515998
NM_001142800.2(EYS):c.7228+1G>A
NM_001142800.2(EYS):c.7229-1G>A rs1554171033
NM_001142800.2(EYS):c.7261A>C (p.Thr2421Pro) rs886061669
NM_001142800.2(EYS):c.732T>A (p.Cys244Ter) rs1562220891
NM_001142800.2(EYS):c.7356C>A (p.Asn2452Lys) rs566843175
NM_001142800.2(EYS):c.7394C>G (p.Thr2465Ser) rs145184183
NM_001142800.2(EYS):c.7411+11C>T rs886061668
NM_001142800.2(EYS):c.7412-1G>C
NM_001142800.2(EYS):c.7422_7423del (p.Gly2474_Asp2475insTer) rs1554169630
NM_001142800.2(EYS):c.7507G>A (p.Glu2503Lys) rs768964978
NM_001142800.2(EYS):c.7620A>C (p.Arg2540Ser) rs886061667
NM_001142800.2(EYS):c.7654del (p.Tyr2551_Val2552insTer) rs1064796020
NM_001142800.2(EYS):c.7666A>T (p.Ser2556Cys) rs66462731
NM_001142800.2(EYS):c.7694del (p.Asn2565fs) rs527236078
NM_001142800.2(EYS):c.7737T>C (p.Thr2579=) rs191846522
NM_001142800.2(EYS):c.7751C>G (p.Thr2584Ser) rs557892188
NM_001142800.2(EYS):c.777G>A (p.Gln259=) rs78079047
NM_001142800.2(EYS):c.7793G>A (p.Gly2598Asp) rs527236064
NM_001142800.2(EYS):c.7796A>G (p.His2599Arg) rs74636274
NM_001142800.2(EYS):c.7868G>A (p.Gly2623Glu) rs559824825
NM_001142800.2(EYS):c.7919G>A (p.Trp2640Ter) rs527236066
NM_001142800.2(EYS):c.7949C>T (p.Ser2650Phe)
NM_001142800.2(EYS):c.7994G>A (p.Gly2665Glu) rs1435861529
NM_001142800.2(EYS):c.8003G>T (p.Cys2668Phe)
NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter) rs527236076
NM_001142800.2(EYS):c.8035T>G (p.Cys2679Gly) rs1064797324
NM_001142800.2(EYS):c.8054G>A (p.Gly2685Glu)
NM_001142800.2(EYS):c.8080A>G (p.Ile2694Val) rs35504565
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter) rs779983752
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs) rs751629543
NM_001142800.2(EYS):c.8138A>G (p.His2713Arg) rs794727670
NM_001142800.2(EYS):c.8153_8154CA[1] (p.His2719fs) rs764229134
NM_001142800.2(EYS):c.8168del (p.Gln2723fs) rs1168101857
NM_001142800.2(EYS):c.8233+8T>G rs886061666
NM_001142800.2(EYS):c.8234-15T>A rs886061665
NM_001142800.2(EYS):c.8243dup (p.Leu2748fs) rs1240944758
NM_001142800.2(EYS):c.8314del (p.Thr2772fs) rs1561994347
NM_001142800.2(EYS):c.8326G>C (p.Val2776Leu) rs886061664
NM_001142800.2(EYS):c.8368A>G (p.Arg2790Gly) rs1554163993
NM_001142800.2(EYS):c.8376_8379dup (p.Glu2794fs) rs527236070
NM_001142800.2(EYS):c.8408dup (p.Asn2803fs) rs398123576
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs) rs763028732
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr) rs111991705
NM_001142800.2(EYS):c.8429C>T (p.Thr2810Ile) rs144513453
NM_001142800.2(EYS):c.8519A>G (p.Glu2840Gly) rs1554163965
NM_001142800.2(EYS):c.8545C>T (p.Arg2849Ter) rs1326635278
NM_001142800.2(EYS):c.8618A>G (p.Asp2873Gly) rs1554163939
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs) rs528919874
NM_001142800.2(EYS):c.8674G>A (p.Val2892Ile) rs1326290203
NM_001142800.2(EYS):c.8678del (p.Asn2893fs) rs1554163929
NM_001142800.2(EYS):c.873T>A (p.Cys291Ter)
NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg) rs373203896
NM_001142800.2(EYS):c.8789A>G (p.Asp2930Gly) rs201690244
NM_001142800.2(EYS):c.8793_8796del (p.Gln2931fs) rs1554163919
NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter) rs527236067
NM_001142800.2(EYS):c.881C>G (p.Ser294Ter) rs752683070
NM_001142800.2(EYS):c.8830del (p.Val2944fs) rs776526721
NM_001142800.2(EYS):c.8860T>C (p.Phe2954Leu) rs79036642
NM_001142800.2(EYS):c.9030A>G (p.Ala3010=) rs61754905
NM_001142800.2(EYS):c.9036del (p.Leu3013fs)
NM_001142800.2(EYS):c.9075_9078AGAA[1] (p.Arg3027fs) rs1427770112
NM_001142800.2(EYS):c.9130T>C (p.Trp3044Arg) rs1554163866
NM_001142800.2(EYS):c.9166_9167del (p.Ile3056fs) rs1165454778
NM_001142800.2(EYS):c.9181A>T (p.Asn3061Tyr) rs1561993477
NM_001142800.2(EYS):c.9186_9187del (p.Asn3062fs) rs886044149
NM_001142800.2(EYS):c.91G>A (p.Glu31Lys) rs572189652
NM_001142800.2(EYS):c.9209T>C (p.Ile3070Thr) rs183589498
NM_001142800.2(EYS):c.9237A>G (p.Leu3079=) rs139944387
NM_001142800.2(EYS):c.9277_9278dup (p.Arg3094fs) rs869312188
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs) rs770748359
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs) rs1326370032
NM_001142800.2(EYS):c.9342_9344TGT[1] (p.Val3116del) rs536788112
NM_001142800.2(EYS):c.9344T>A (p.Val3115Asp)
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala) rs772888249
NM_001142800.2(EYS):c.9400del (p.Val3134fs) rs886042614
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter) rs137853190
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256
NM_001142800.2(EYS):c.988G>A (p.Glu330Lys) rs144803840
Single allele

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