NM_001142800.2(EYS):c.4256T>C (p.Leu1419Ser)
|
rs624851
|
0.77065
|
NM_001142800.2(EYS):c.1300-3C>T
|
rs1936439
|
0.67522
|
NM_001142800.2(EYS):c.2555T>C (p.Leu852Pro)
|
rs9294631
|
0.67363
|
NM_001142800.2(EYS):c.1146T>C (p.Asn382=)
|
rs974110
|
0.52503
|
NM_001142800.2(EYS):c.1809C>T (p.Val603=)
|
rs9345601
|
0.50550
|
NM_001142800.2(EYS):c.1891G>A (p.Gly631Ser)
|
rs9342464
|
0.50535
|
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln)
|
rs4710457
|
0.35152
|
NM_001142800.2(EYS):c.5705A>T (p.Asn1902Ile)
|
rs9353806
|
0.27343
|
NM_001142800.2(EYS):c.2024-14_2024-13insT
|
rs142590049
|
0.21040
|
NM_001142800.2(EYS):c.-500A>G
|
rs1490127
|
0.20918
|
NM_001142800.2(EYS):c.2024-14C>T
|
rs45628235
|
0.20204
|
NM_001142800.2(EYS):c.3444-5C>T
|
rs9445051
|
0.19475
|
NM_001142800.2(EYS):c.1922A>T (p.Glu641Val)
|
rs17411795
|
0.16501
|
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg)
|
rs61753610
|
0.12981
|
NM_001142800.2(EYS):c.3906C>T (p.His1302=)
|
rs12663916
|
0.10887
|
NM_001142800.2(EYS):c.5244A>C (p.Leu1748Phe)
|
rs57312007
|
0.10595
|
NM_001142800.2(EYS):c.3936A>G (p.Thr1312=)
|
rs12662610
|
0.10143
|
NM_001142800.2(EYS):c.4352T>C (p.Ile1451Thr)
|
rs62415828
|
0.09865
|
NM_001142800.2(EYS):c.4026C>T (p.Ser1342=)
|
rs12663619
|
0.09859
|
NM_001142800.2(EYS):c.4593G>A (p.Glu1531=)
|
rs62415825
|
0.09856
|
NM_001142800.2(EYS):c.4081A>G (p.Ile1361Val)
|
rs17403955
|
0.09853
|
NM_001142800.2(EYS):c.3787A>G (p.Ile1263Val)
|
rs17404123
|
0.09852
|
NM_001142800.2(EYS):c.3973C>G (p.Gln1325Glu)
|
rs12663622
|
0.09847
|
NM_001142800.2(EYS):c.4543C>T (p.Arg1515Trp)
|
rs62415827
|
0.09842
|
NM_001142800.2(EYS):c.4549A>G (p.Ser1517Gly)
|
rs62415826
|
0.09832
|
NM_001142800.2(EYS):c.5617C>G (p.Leu1873Val)
|
rs16895517
|
0.09577
|
NM_001142800.2(EYS):c.7666A>T (p.Ser2556Cys)
|
rs66462731
|
0.08861
|
NM_001142800.2(EYS):c.5977A>G (p.Thr1993Ala)
|
rs115066356
|
0.02657
|
NM_001142800.2(EYS):c.2157C>T (p.Cys719=)
|
rs9453148
|
0.02573
|
NM_001142800.2(EYS):c.2739G>A (p.Arg913=)
|
rs77020971
|
0.02117
|
NM_001142800.2(EYS):c.2733T>C (p.Asn911=)
|
rs75634595
|
0.01917
|
NM_001142800.2(EYS):c.7597A>G (p.Lys2533Glu)
|
rs114512007
|
0.01679
|
NM_001142800.2(EYS):c.1459+20T>A
|
rs115475187
|
0.01473
|
NM_001142800.2(EYS):c.-459C>T
|
rs144371265
|
0.01261
|
NM_001142800.2(EYS):c.6452A>G (p.Asn2151Ser)
|
rs141603172
|
0.01185
|
NM_001142800.2(EYS):c.777G>A (p.Gln259=)
|
rs78079047
|
0.01169
|
NM_001142800.2(EYS):c.5044G>T (p.Asp1682Tyr)
|
rs75831552
|
0.01062
|
NM_001142800.2(EYS):c.4093A>G (p.Lys1365Glu)
|
rs16895519
|
0.00905
|
NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn)
|
rs61753611
|
0.00740
|
NM_001142800.2(EYS):c.3345A>G (p.Glu1115=)
|
rs114282214
|
0.00622
|
NM_001142800.2(EYS):c.7796A>G (p.His2599Arg)
|
rs74636274
|
0.00587
|
NM_001142800.2(EYS):c.5601T>C (p.Ser1867=)
|
rs182322608
|
0.00464
|
NM_001142800.2(EYS):c.281C>A (p.Pro94Gln)
|
rs111947397
|
0.00404
|
NM_001142800.2(EYS):c.7006G>A (p.Val2336Ile)
|
rs74848648
|
0.00397
|
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn)
|
rs112822256
|
0.00379
|
NM_001142800.2(EYS):c.7578+18C>T
|
rs147210136
|
0.00376
|
NM_001142800.2(EYS):c.6725+10G>A
|
rs140506043
|
0.00353
|
NM_001142800.2(EYS):c.2259+10C>T
|
rs78511049
|
0.00343
|
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser)
|
rs199689193
|
0.00333
|
NM_001142800.2(EYS):c.2500G>A (p.Val834Ile)
|
rs112464110
|
0.00293
|
NM_001142800.2(EYS):c.7697G>A (p.Gly2566Glu)
|
rs115058877
|
0.00293
|
NM_001142800.2(EYS):c.2613C>T (p.Asp871=)
|
rs192059823
|
0.00284
|
NM_001142800.2(EYS):c.5629C>T (p.Arg1877Trp)
|
rs139822086
|
0.00273
|
NM_001142800.2(EYS):c.4264A>T (p.Thr1422Ser)
|
rs200318120
|
0.00269
|
NM_001142800.2(EYS):c.3329C>G (p.Thr1110Ser)
|
rs143327210
|
0.00223
|
NM_001142800.2(EYS):c.988G>A (p.Glu330Lys)
|
rs144803840
|
0.00217
|
NM_001142800.2(EYS):c.788A>G (p.His263Arg)
|
rs139517572
|
0.00213
|
NM_001142800.2(EYS):c.-337T>A
|
rs145321084
|
0.00201
|
NM_001142800.2(EYS):c.1985G>T (p.Arg662Met)
|
rs144430026
|
0.00193
|
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val)
|
rs147641443
|
0.00192
|
NM_001142800.2(EYS):c.-414G>A
|
rs181146743
|
0.00187
|
NM_001142800.2(EYS):c.7737T>C (p.Thr2579=)
|
rs191846522
|
0.00175
|
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp)
|
rs201580493
|
0.00166
|
NM_001142800.2(EYS):c.6535A>G (p.Ile2179Val)
|
rs148019592
|
0.00165
|
NM_001142800.2(EYS):c.1899A>G (p.Gln633=)
|
rs373197894
|
0.00153
|
NM_001142800.2(EYS):c.6632C>T (p.Ser2211Leu)
|
rs145623359
|
0.00148
|
NM_001142800.2(EYS):c.7107G>A (p.Leu2369=)
|
rs187604073
|
0.00141
|
NM_001142800.2(EYS):c.1145A>T (p.Asn382Ile)
|
rs144935927
|
0.00133
|
NM_001142800.2(EYS):c.6547A>G (p.Ser2183Gly)
|
rs368458853
|
0.00133
|
NM_001142800.2(EYS):c.1184+14T>C
|
rs182780299
|
0.00132
|
NM_001142800.2(EYS):c.5474C>A (p.Thr1825Asn)
|
rs182151153
|
0.00132
|
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=)
|
rs772339340
|
0.00124
|
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly)
|
rs188093810
|
0.00124
|
NM_001142800.2(EYS):c.5335G>A (p.Gly1779Ser)
|
rs186499459
|
0.00121
|
NM_001142800.2(EYS):c.5233G>A (p.Asp1745Asn)
|
rs145274061
|
0.00118
|
NM_001142800.2(EYS):c.3877+17A>G
|
rs749379421
|
0.00115
|
NM_001142800.2(EYS):c.2039T>C (p.Ile680Thr)
|
rs376807770
|
0.00108
|
NM_001142800.2(EYS):c.6394C>T (p.Leu2132=)
|
rs149332790
|
0.00103
|
NM_001142800.2(EYS):c.748+6A>T
|
rs373742788
|
0.00096
|
NM_001142800.2(EYS):c.4891C>T (p.Pro1631Ser)
|
rs200935518
|
0.00083
|
NM_001142800.2(EYS):c.2562C>T (p.Asp854=)
|
rs188011013
|
0.00081
|
NM_001142800.2(EYS):c.6284C>T (p.Pro2095Leu)
|
rs200374024
|
0.00081
|
NM_001142800.2(EYS):c.1660T>A (p.Cys554Ser)
|
rs145102275
|
0.00077
|
NM_001142800.2(EYS):c.3489T>A (p.Asn1163Lys)
|
rs150951106
|
0.00076
|
NM_001142800.2(EYS):c.1872G>A (p.Ser624=)
|
rs148411571
|
0.00075
|
NM_001142800.2(EYS):c.3694A>T (p.Ile1232Phe)
|
rs190009374
|
0.00075
|
NM_001142800.2(EYS):c.2109C>T (p.Tyr703=)
|
rs377090818
|
0.00071
|
NM_001142800.2(EYS):c.5240A>G (p.Glu1747Gly)
|
rs535663619
|
0.00070
|
NM_001142800.2(EYS):c.1460-20T>G
|
rs57139139
|
0.00069
|
NM_001142800.2(EYS):c.5615T>C (p.Ile1872Thr)
|
rs201333192
|
0.00068
|
NM_001142800.2(EYS):c.7056-15T>A
|
rs139056492
|
0.00067
|
NM_001142800.2(EYS):c.-482C>T
|
rs1032347546
|
0.00066
|
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser)
|
rs201652272
|
0.00066
|
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)
|
rs143994166
|
0.00064
|
NM_001142800.2(EYS):c.6855C>T (p.Phe2285=)
|
rs371505812
|
0.00064
|
NM_001142800.2(EYS):c.3444-15del
|
rs546966286
|
0.00062
|
NM_001142800.2(EYS):c.1459+5C>T
|
rs200387978
|
0.00061
|
NM_001142800.2(EYS):c.1599+13T>C
|
rs182876572
|
0.00058
|
NM_001142800.2(EYS):c.-521C>T
|
rs769167992
|
0.00057
|
NM_001142800.2(EYS):c.7506C>T (p.Ser2502=)
|
rs77113519
|
0.00057
|
NM_001142800.2(EYS):c.740C>T (p.Pro247Leu)
|
rs367977860
|
0.00056
|
NM_001142800.2(EYS):c.7034G>A (p.Arg2345His)
|
rs201304559
|
0.00055
|
NM_001142800.2(EYS):c.716C>T (p.Ala239Val)
|
rs150140204
|
0.00054
|
NM_001142800.2(EYS):c.-207A>G
|
rs370140172
|
0.00051
|
NM_001142800.2(EYS):c.6725+18C>T
|
rs370308434
|
0.00051
|
NM_001142800.2(EYS):c.6828C>T (p.Ala2276=)
|
rs373606872
|
0.00051
|
NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro)
|
rs778646190
|
0.00049
|
NM_001142800.2(EYS):c.4402G>C (p.Asp1468His)
|
rs778752557
|
0.00049
|
NM_001142800.2(EYS):c.5566C>T (p.Arg1856Trp)
|
rs116561042
|
0.00047
|
NM_001142800.2(EYS):c.6645G>T (p.Gly2215=)
|
rs376974348
|
0.00047
|
NM_001142800.2(EYS):c.2024-15T>C
|
rs561166342
|
0.00046
|
NM_001142800.2(EYS):c.-101G>A
|
rs564008138
|
0.00044
|
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser)
|
rs142450703
|
0.00043
|
NM_001142800.2(EYS):c.2068T>A (p.Cys690Ser)
|
rs370950723
|
0.00042
|
NM_001142800.2(EYS):c.2598C>T (p.Cys866=)
|
rs183814213
|
0.00040
|
NM_001142800.2(EYS):c.1638C>T (p.Asp546=)
|
rs373584729
|
0.00039
|
NM_001142800.2(EYS):c.2553C>T (p.Asn851=)
|
rs771641817
|
0.00037
|
NM_001142800.2(EYS):c.3586T>C (p.Cys1196Arg)
|
rs374409854
|
0.00036
|
NM_001142800.2(EYS):c.-200G>A
|
rs368932132
|
0.00035
|
NM_001142800.2(EYS):c.1748A>C (p.Asp583Ala)
|
rs113591099
|
0.00034
|
NM_001142800.2(EYS):c.2137+1G>A
|
rs199740930
|
0.00034
|
NM_001142800.2(EYS):c.2259+20T>C
|
rs187199454
|
0.00034
|
NM_001142800.2(EYS):c.3568+5T>C
|
rs539477235
|
0.00034
|
NM_001142800.2(EYS):c.4121G>A (p.Arg1374Gln)
|
rs142187896
|
0.00034
|
NM_001142800.2(EYS):c.4363A>G (p.Ile1455Val)
|
rs183144150
|
0.00034
|
NM_001142800.2(EYS):c.6318T>C (p.Asp2106=)
|
rs193261187
|
0.00031
|
NM_001142800.2(EYS):c.7353A>C (p.Ala2451=)
|
rs527812465
|
0.00031
|
NM_001142800.2(EYS):c.1082T>C (p.Ile361Thr)
|
rs201059400
|
0.00030
|
NM_001142800.2(EYS):c.1512T>A (p.Ala504=)
|
rs142178909
|
0.00029
|
NM_001142800.2(EYS):c.2596T>C (p.Cys866Arg)
|
rs369966951
|
0.00029
|
NM_001142800.2(EYS):c.5577C>T (p.Pro1859=)
|
rs747911999
|
0.00029
|
NM_001142800.2(EYS):c.5988C>T (p.Cys1996=)
|
rs370988507
|
0.00029
|
NM_001142800.2(EYS):c.8080A>G (p.Ile2694Val)
|
rs35504565
|
0.00029
|
NM_001142800.2(EYS):c.7044C>T (p.Gly2348=)
|
rs369191457
|
0.00028
|
NM_001142800.2(EYS):c.-525T>G
|
rs148352900
|
0.00026
|
NM_001142800.2(EYS):c.3632T>C (p.Leu1211Pro)
|
rs955526009
|
0.00026
|
NM_001142800.2(EYS):c.7724-12C>T
|
rs144282503
|
0.00026
|
NM_001142800.2(EYS):c.2512C>T (p.Pro838Ser)
|
rs112495229
|
0.00025
|
NM_001142800.2(EYS):c.7239T>C (p.Ile2413=)
|
rs776743787
|
0.00025
|
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg)
|
rs367857088
|
0.00024
|
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe)
|
rs201819948
|
0.00023
|
NM_001142800.2(EYS):c.3443+1G>T
|
rs373441420
|
0.00022
|
NM_001142800.2(EYS):c.1056+11A>G
|
rs201004766
|
0.00021
|
NM_001142800.2(EYS):c.2027C>T (p.Thr676Met)
|
rs199944222
|
0.00021
|
NM_001142800.2(EYS):c.2992+7C>A
|
rs371293011
|
0.00021
|
NM_001142800.2(EYS):c.4991C>T (p.Thr1664Ile)
|
rs561830314
|
0.00021
|
NM_001142800.2(EYS):c.6876T>C (p.Asn2292=)
|
rs774188028
|
0.00021
|
NM_001142800.2(EYS):c.7723+9T>C
|
rs766087392
|
0.00021
|
NM_001142800.2(EYS):c.862+20A>G
|
rs371205048
|
0.00021
|
NM_001142800.2(EYS):c.2470T>C (p.Cys824Arg)
|
rs761721655
|
0.00020
|
NM_001142800.2(EYS):c.6273T>C (p.Thr2091=)
|
rs568000643
|
0.00020
|
NM_001142800.2(EYS):c.801T>C (p.His267=)
|
rs147376346
|
0.00020
|
NM_001142800.2(EYS):c.8178T>C (p.Pro2726=)
|
rs767955491
|
0.00020
|
NM_001142800.2(EYS):c.2302T>A (p.Cys768Ser)
|
rs374204063
|
0.00019
|
NM_001142800.2(EYS):c.2309A>C (p.Gln770Pro)
|
rs398123574
|
0.00019
|
NM_001142800.2(EYS):c.2539C>T (p.His847Tyr)
|
rs145729428
|
0.00019
|
NM_001142800.2(EYS):c.2822G>T (p.Gly941Val)
|
rs749101387
|
0.00019
|
NM_001142800.2(EYS):c.7578+19G>A
|
rs375442777
|
0.00019
|
NM_001142800.2(EYS):c.7751C>G (p.Thr2584Ser)
|
rs557892188
|
0.00019
|
NM_001142800.2(EYS):c.2439C>T (p.Cys813=)
|
rs367546131
|
0.00018
|
NM_001142800.2(EYS):c.2903A>G (p.Asn968Ser)
|
rs535658960
|
0.00018
|
NM_001142800.2(EYS):c.3078T>C (p.Tyr1026=)
|
rs988768937
|
0.00018
|
NM_001142800.2(EYS):c.-78T>A
|
rs190155823
|
0.00017
|
NM_001142800.2(EYS):c.1059T>A (p.Asp353Glu)
|
rs138954858
|
0.00017
|
NM_001142800.2(EYS):c.3447T>C (p.Cys1149=)
|
rs192254604
|
0.00017
|
NM_001142800.2(EYS):c.5532T>C (p.Pro1844=)
|
rs545805162
|
0.00017
|
NM_001142800.2(EYS):c.719A>G (p.Tyr240Cys)
|
rs150502410
|
0.00017
|
NM_001142800.2(EYS):c.-379C>G
|
rs766649754
|
0.00016
|
NM_001142800.2(EYS):c.3129C>T (p.Ala1043=)
|
rs911291244
|
0.00016
|
NM_001142800.2(EYS):c.3695T>C (p.Ile1232Thr)
|
rs146413074
|
0.00016
|
NM_001142800.2(EYS):c.5025T>C (p.Ser1675=)
|
rs995130689
|
0.00016
|
NM_001142800.2(EYS):c.5645-16C>T
|
rs529469993
|
0.00016
|
NM_001142800.2(EYS):c.5883T>G (p.Thr1961=)
|
rs779530881
|
0.00016
|
NM_001142800.2(EYS):c.6732A>G (p.Thr2244=)
|
rs899618893
|
0.00016
|
NM_001142800.2(EYS):c.7507G>A (p.Glu2503Lys)
|
rs768964978
|
0.00016
|
NM_001142800.2(EYS):c.453T>A (p.Val151=)
|
rs373183802
|
0.00015
|
NM_001142800.2(EYS):c.4221A>G (p.Gln1407=)
|
rs527342098
|
0.00014
|
NM_001142800.2(EYS):c.4640A>G (p.Asp1547Gly)
|
rs1010782574
|
0.00014
|
NM_001142800.2(EYS):c.5927+10T>C
|
rs778163566
|
0.00014
|
NM_001142800.2(EYS):c.6436T>C (p.Phe2146Leu)
|
rs545408886
|
0.00014
|
NM_001142800.2(EYS):c.4067G>A (p.Arg1356His)
|
rs961867431
|
0.00013
|
NM_001142800.2(EYS):c.5104T>C (p.Leu1702=)
|
rs564151798
|
0.00013
|
NM_001142800.2(EYS):c.1673G>A (p.Trp558Ter)
|
rs201823777
|
0.00012
|
NM_001142800.2(EYS):c.2199C>T (p.Asp733=)
|
rs769923713
|
0.00012
|
NM_001142800.2(EYS):c.455T>C (p.Met152Thr)
|
rs771768413
|
0.00012
|
NM_001142800.2(EYS):c.7441G>A (p.Gly2481Ser)
|
rs774918307
|
0.00012
|
NM_001142800.2(EYS):c.1349A>C (p.Asn450Thr)
|
rs138255012
|
0.00011
|
NM_001142800.2(EYS):c.1382G>A (p.Cys461Tyr)
|
rs76754818
|
0.00011
|
NM_001142800.2(EYS):c.1466A>T (p.Glu489Val)
|
rs140518088
|
0.00011
|
NM_001142800.2(EYS):c.16A>G (p.Ile6Val)
|
rs779012572
|
0.00011
|
NM_001142800.2(EYS):c.2076T>C (p.Asn692=)
|
rs541810987
|
0.00011
|
NM_001142800.2(EYS):c.2847-14C>A
|
rs754629386
|
0.00011
|
NM_001142800.2(EYS):c.3832G>T (p.Ala1278Ser)
|
rs775270768
|
0.00011
|
NM_001142800.2(EYS):c.3858C>T (p.Asp1286=)
|
rs374941270
|
0.00011
|
NM_001142800.2(EYS):c.4559C>G (p.Ala1520Gly)
|
rs751565795
|
0.00011
|
NM_001142800.2(EYS):c.4565A>G (p.Asn1522Ser)
|
rs539577250
|
0.00011
|
NM_001142800.2(EYS):c.5053T>G (p.Ser1685Ala)
|
rs759642068
|
0.00011
|
NM_001142800.2(EYS):c.5199A>G (p.Thr1733=)
|
rs762653244
|
0.00011
|
NM_001142800.2(EYS):c.6188G>T (p.Cys2063Phe)
|
rs138123230
|
0.00011
|
NM_001142800.2(EYS):c.7056-16T>A
|
rs776332288
|
0.00011
|
NM_001142800.2(EYS):c.7229-3C>T
|
rs962905685
|
0.00011
|
NM_001142800.2(EYS):c.-68C>T
|
rs530118054
|
0.00010
|
NM_001142800.2(EYS):c.2260-7C>T
|
rs532797776
|
0.00010
|
NM_001142800.2(EYS):c.2513C>T (p.Pro838Leu)
|
rs867716723
|
0.00010
|
NM_001142800.2(EYS):c.3202G>A (p.Asp1068Asn)
|
rs747998145
|
0.00010
|
NM_001142800.2(EYS):c.7609G>A (p.Ala2537Thr)
|
rs189406424
|
0.00010
|
NM_001142800.2(EYS):c.7724-3A>G
|
rs1407901884
|
0.00010
|
NM_001142800.2(EYS):c.7744G>A (p.Val2582Ile)
|
rs779269543
|
0.00010
|
NM_001142800.2(EYS):c.1747G>T (p.Asp583Tyr)
|
rs776055954
|
0.00009
|
NM_001142800.2(EYS):c.2023+15T>C
|
rs1489586514
|
0.00009
|
NM_001142800.2(EYS):c.2023+6_2023+7insG
|
rs397797960
|
0.00009
|
NM_001142800.2(EYS):c.3164+11_3164+12insC
|
rs745862028
|
0.00009
|
NM_001142800.2(EYS):c.3878-12T>A
|
rs1018828002
|
0.00009
|
NM_001142800.2(EYS):c.5031C>T (p.Asp1677=)
|
rs970423234
|
0.00009
|
NM_001142800.2(EYS):c.5567G>A (p.Arg1856Gln)
|
rs563441026
|
0.00009
|
NM_001142800.2(EYS):c.7055+20T>C
|
rs1008346163
|
0.00009
|
NM_001142800.2(EYS):c.7284A>C (p.Ser2428=)
|
rs775877185
|
0.00009
|
NM_001142800.2(EYS):c.7608C>T (p.Ile2536=)
|
rs562496683
|
0.00009
|
NM_001142800.2(EYS):c.8181C>T (p.Leu2727=)
|
rs369121423
|
0.00009
|
NM_001142800.2(EYS):c.1107C>T (p.Ser369=)
|
rs755023434
|
0.00008
|
NM_001142800.2(EYS):c.1600-10G>A
|
rs111746102
|
0.00008
|
NM_001142800.2(EYS):c.1890C>T (p.Ser630=)
|
rs904080713
|
0.00008
|
NM_001142800.2(EYS):c.18C>T (p.Ile6=)
|
rs771355112
|
0.00008
|
NM_001142800.2(EYS):c.2259C>T (p.Leu753=)
|
rs781359405
|
0.00008
|
NM_001142800.2(EYS):c.2506C>T (p.Leu836=)
|
rs377216870
|
0.00008
|
NM_001142800.2(EYS):c.3773C>T (p.Thr1258Ile)
|
rs372304848
|
0.00008
|
NM_001142800.2(EYS):c.4392G>T (p.Gly1464=)
|
rs745673114
|
0.00008
|
NM_001142800.2(EYS):c.4864G>A (p.Ala1622Thr)
|
rs533075374
|
0.00008
|
NM_001142800.2(EYS):c.5376A>G (p.Ala1792=)
|
rs1037016919
|
0.00008
|
NM_001142800.2(EYS):c.5928-2A>G
|
rs181169439
|
0.00008
|
NM_001142800.2(EYS):c.6510C>T (p.Asn2170=)
|
rs756110037
|
0.00008
|
NM_001142800.2(EYS):c.711G>A (p.Glu237=)
|
rs375370385
|
0.00008
|
NM_001142800.2(EYS):c.831T>A (p.Ser277Arg)
|
rs759315564
|
0.00008
|
NM_001142800.2(EYS):c.865C>G (p.Pro289Ala)
|
rs772145998
|
0.00008
|
NM_001142800.2(EYS):c.1218G>T (p.Glu406Asp)
|
rs201331309
|
0.00007
|
NM_001142800.2(EYS):c.1300-17T>G
|
rs1025921404
|
0.00007
|
NM_001142800.2(EYS):c.380G>T (p.Gly127Val)
|
rs201076128
|
0.00007
|
NM_001142800.2(EYS):c.4270A>G (p.Thr1424Ala)
|
rs1045167208
|
0.00007
|
NM_001142800.2(EYS):c.5189G>A (p.Gly1730Glu)
|
rs927928681
|
0.00007
|
NM_001142800.2(EYS):c.5644+13G>A
|
rs775108781
|
0.00007
|
NM_001142800.2(EYS):c.6009C>T (p.Leu2003=)
|
rs934395477
|
0.00007
|
NM_001142800.2(EYS):c.6409C>T (p.Arg2137Cys)
|
rs763862423
|
0.00007
|
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr)
|
rs749909863
|
0.00007
|
NM_001142800.2(EYS):c.6835-19G>A
|
rs528900765
|
0.00007
|
NM_001142800.2(EYS):c.7171G>A (p.Gly2391Arg)
|
rs751746614
|
0.00007
|
NM_001142800.2(EYS):c.7811G>A (p.Arg2604His)
|
rs368798160
|
0.00007
|
NM_001142800.2(EYS):c.8048C>A (p.Thr2683Asn)
|
rs996098321
|
0.00007
|
NM_001142800.2(EYS):c.8233+9G>A
|
rs779154270
|
0.00007
|
NM_001142800.2(EYS):c.881C>G (p.Ser294Ter)
|
rs752683070
|
0.00007
|
NM_001142800.2(EYS):c.-209C>T
|
rs1004023794
|
0.00006
|
NM_001142800.2(EYS):c.-259T>C
|
rs1014994890
|
0.00006
|
NM_001142800.2(EYS):c.-272T>C
|
rs747914953
|
0.00006
|
NM_001142800.2(EYS):c.1461A>T (p.Gly487=)
|
rs376870255
|
0.00006
|
NM_001142800.2(EYS):c.1479C>T (p.Cys493=)
|
rs774464019
|
0.00006
|
NM_001142800.2(EYS):c.1766+15T>C
|
rs147359582
|
0.00006
|
NM_001142800.2(EYS):c.1950G>A (p.Ala650=)
|
rs565864295
|
0.00006
|
NM_001142800.2(EYS):c.1952C>T (p.Ser651Phe)
|
rs940468386
|
0.00006
|
NM_001142800.2(EYS):c.2024G>A (p.Gly675Asp)
|
rs1323236780
|
0.00006
|
NM_001142800.2(EYS):c.2381+7A>C
|
rs1002514488
|
0.00006
|
NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter)
|
rs760798455
|
0.00006
|
NM_001142800.2(EYS):c.2738+13T>C
|
rs886061682
|
0.00006
|
NM_001142800.2(EYS):c.2890G>A (p.Glu964Lys)
|
rs886061681
|
0.00006
|
NM_001142800.2(EYS):c.2953_2961del (p.Thr985_Gly987del)
|
rs756068592
|
0.00006
|
NM_001142800.2(EYS):c.3406A>T (p.Ile1136Phe)
|
rs564589394
|
0.00006
|
NM_001142800.2(EYS):c.3454G>A (p.Gly1152Arg)
|
rs371491059
|
0.00006
|
NM_001142800.2(EYS):c.35T>C (p.Met12Thr)
|
rs755947942
|
0.00006
|
NM_001142800.2(EYS):c.4046G>A (p.Arg1349Gln)
|
rs368698537
|
0.00006
|
NM_001142800.2(EYS):c.4100C>T (p.Ser1367Leu)
|
rs773888841
|
0.00006
|
NM_001142800.2(EYS):c.4156G>A (p.Asp1386Asn)
|
rs376632836
|
0.00006
|
NM_001142800.2(EYS):c.5140A>C (p.Thr1714Pro)
|
rs201916371
|
0.00006
|
NM_001142800.2(EYS):c.5296C>T (p.His1766Tyr)
|
rs190942468
|
0.00006
|
NM_001142800.2(EYS):c.5392G>C (p.Ala1798Pro)
|
rs927982487
|
0.00006
|
NM_001142800.2(EYS):c.5644+20T>C
|
rs771570791
|
0.00006
|
NM_001142800.2(EYS):c.6410G>A (p.Arg2137His)
|
rs369090261
|
0.00006
|
NM_001142800.2(EYS):c.6536T>C (p.Ile2179Thr)
|
rs924836478
|
0.00006
|
NM_001142800.2(EYS):c.7055+13C>G
|
rs766150006
|
0.00006
|
NM_001142800.2(EYS):c.7117G>A (p.Ala2373Thr)
|
rs372512515
|
0.00006
|
NM_001142800.2(EYS):c.749-16T>C
|
rs182342981
|
0.00006
|
NM_001142800.2(EYS):c.8072-5C>A
|
rs1427347993
|
0.00006
|
NM_001142800.2(EYS):c.-428C>T
|
rs913507265
|
0.00005
|
NM_001142800.2(EYS):c.1253A>G (p.Asn418Ser)
|
rs200542517
|
0.00005
|
NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly)
|
rs778030177
|
0.00005
|
NM_001142800.2(EYS):c.2028G>A (p.Thr676=)
|
rs758722034
|
0.00005
|
NM_001142800.2(EYS):c.2316C>T (p.Ser772=)
|
rs914387501
|
0.00005
|
NM_001142800.2(EYS):c.2642-5T>G
|
rs767752603
|
0.00005
|
NM_001142800.2(EYS):c.2948A>T (p.Tyr983Phe)
|
rs954643162
|
0.00005
|
NM_001142800.2(EYS):c.3010A>C (p.Asn1004His)
|
rs781222768
|
0.00005
|
NM_001142800.2(EYS):c.333C>T (p.Phe111=)
|
rs536110253
|
0.00005
|
NM_001142800.2(EYS):c.3446G>A (p.Cys1149Tyr)
|
rs1315175190
|
0.00005
|
NM_001142800.2(EYS):c.390A>G (p.Leu130=)
|
rs758943572
|
0.00005
|
NM_001142800.2(EYS):c.4115C>T (p.Pro1372Leu)
|
rs569134881
|
0.00005
|
NM_001142800.2(EYS):c.4159A>G (p.Arg1387Gly)
|
rs758327507
|
0.00005
|
NM_001142800.2(EYS):c.522C>T (p.Cys174=)
|
rs373343831
|
0.00005
|
NM_001142800.2(EYS):c.5284T>C (p.Ser1762Pro)
|
rs749598687
|
0.00005
|
NM_001142800.2(EYS):c.557A>G (p.His186Arg)
|
rs140341077
|
0.00005
|
NM_001142800.2(EYS):c.586A>C (p.Lys196Gln)
|
rs749038401
|
0.00005
|
NM_001142800.2(EYS):c.6381A>G (p.Gln2127=)
|
rs374933460
|
0.00005
|
NM_001142800.2(EYS):c.6473T>C (p.Leu2158Pro)
|
rs777735735
|
0.00005
|
NM_001142800.2(EYS):c.6571+5G>A
|
rs991580368
|
0.00005
|
NM_001142800.2(EYS):c.6961A>C (p.Ile2321Leu)
|
rs149823162
|
0.00005
|
NM_001142800.2(EYS):c.7257T>C (p.Ser2419=)
|
rs768229148
|
0.00005
|
NM_001142800.2(EYS):c.8107G>T (p.Glu2703Ter)
|
rs184722374
|
0.00005
|
NM_001142800.2(EYS):c.833T>C (p.Phe278Ser)
|
rs142777049
|
0.00005
|
NM_001142800.2(EYS):c.904C>T (p.Leu302Phe)
|
rs202064483
|
0.00005
|
NM_001142800.2(EYS):c.-121A>T
|
rs963390874
|
0.00004
|
NM_001142800.2(EYS):c.-134G>T
|
rs1355531772
|
0.00004
|
NM_001142800.2(EYS):c.-357C>A
|
rs890952509
|
0.00004
|
NM_001142800.2(EYS):c.-4G>A
|
rs185441774
|
0.00004
|
NM_001142800.2(EYS):c.1111C>A (p.Gln371Lys)
|
rs979156982
|
0.00004
|
NM_001142800.2(EYS):c.1124A>C (p.Glu375Ala)
|
rs955372590
|
0.00004
|
NM_001142800.2(EYS):c.116A>G (p.Tyr39Cys)
|
rs45541238
|
0.00004
|
NM_001142800.2(EYS):c.1185-9T>C
|
rs369985110
|
0.00004
|
NM_001142800.2(EYS):c.1293A>T (p.Arg431Ser)
|
rs371607669
|
0.00004
|
NM_001142800.2(EYS):c.1462T>G (p.Ser488Ala)
|
rs754245105
|
0.00004
|
NM_001142800.2(EYS):c.1470C>T (p.Gly490=)
|
rs778161042
|
0.00004
|
NM_001142800.2(EYS):c.1588G>A (p.Gly530Ser)
|
rs779678010
|
0.00004
|
NM_001142800.2(EYS):c.1599+18A>G
|
rs766483614
|
0.00004
|
NM_001142800.2(EYS):c.1683C>T (p.Asn561=)
|
rs757359666
|
0.00004
|
NM_001142800.2(EYS):c.207A>T (p.Ser69=)
|
rs984507734
|
0.00004
|
NM_001142800.2(EYS):c.2106T>C (p.Asn702=)
|
rs1233162035
|
0.00004
|
NM_001142800.2(EYS):c.2222C>T (p.Ala741Val)
|
rs1009558644
|
0.00004
|
NM_001142800.2(EYS):c.2280A>G (p.Leu760=)
|
rs923201434
|
0.00004
|
NM_001142800.2(EYS):c.2387A>T (p.Glu796Val)
|
rs909973943
|
0.00004
|
NM_001142800.2(EYS):c.2545C>T (p.Arg849Cys)
|
rs369347845
|
0.00004
|
NM_001142800.2(EYS):c.2546G>A (p.Arg849His)
|
rs775080539
|
0.00004
|
NM_001142800.2(EYS):c.2595A>G (p.Thr865=)
|
rs1309017000
|
0.00004
|
NM_001142800.2(EYS):c.3028T>C (p.Ser1010Pro)
|
rs557931285
|
0.00004
|
NM_001142800.2(EYS):c.3061G>A (p.Asp1021Asn)
|
rs750283324
|
0.00004
|
NM_001142800.2(EYS):c.3164+7A>T
|
rs963551759
|
0.00004
|
NM_001142800.2(EYS):c.3185A>T (p.Glu1062Val)
|
rs888286822
|
0.00004
|
NM_001142800.2(EYS):c.3226T>C (p.Cys1076Arg)
|
rs780935714
|
0.00004
|
NM_001142800.2(EYS):c.3243+3A>G
|
rs75242532
|
0.00004
|
NM_001142800.2(EYS):c.3314G>T (p.Cys1105Phe)
|
rs966564796
|
0.00004
|
NM_001142800.2(EYS):c.3507A>G (p.Pro1169=)
|
rs750490503
|
0.00004
|
NM_001142800.2(EYS):c.3645T>A (p.Asn1215Lys)
|
rs369993811
|
0.00004
|
NM_001142800.2(EYS):c.3835A>G (p.Thr1279Ala)
|
rs761504179
|
0.00004
|
NM_001142800.2(EYS):c.3878-2A>G
|
rs752930400
|
0.00004
|
NM_001142800.2(EYS):c.4108C>T (p.His1370Tyr)
|
rs1381744132
|
0.00004
|
NM_001142800.2(EYS):c.4275T>C (p.Thr1425=)
|
rs770430429
|
0.00004
|
NM_001142800.2(EYS):c.4451G>A (p.Trp1484Ter)
|
rs1239854361
|
0.00004
|
NM_001142800.2(EYS):c.5325A>G (p.Pro1775=)
|
rs900240059
|
0.00004
|
NM_001142800.2(EYS):c.5411T>C (p.Ile1804Thr)
|
rs368097230
|
0.00004
|
NM_001142800.2(EYS):c.5426C>A (p.Ser1809Tyr)
|
rs1333472588
|
0.00004
|
NM_001142800.2(EYS):c.5455T>G (p.Tyr1819Asp)
|
rs954945771
|
0.00004
|
NM_001142800.2(EYS):c.5462C>T (p.Thr1821Ile)
|
rs776654329
|
0.00004
|
NM_001142800.2(EYS):c.5609A>G (p.Glu1870Gly)
|
rs1002095739
|
0.00004
|
NM_001142800.2(EYS):c.5766T>C (p.Tyr1922=)
|
rs111663949
|
0.00004
|
NM_001142800.2(EYS):c.5775A>G (p.Gln1925=)
|
rs1465801209
|
0.00004
|
NM_001142800.2(EYS):c.5836-8C>T
|
rs747391328
|
0.00004
|
NM_001142800.2(EYS):c.5902G>A (p.Gly1968Arg)
|
rs992864714
|
0.00004
|
NM_001142800.2(EYS):c.5949C>T (p.Asn1983=)
|
rs541973291
|
0.00004
|
NM_001142800.2(EYS):c.5950G>A (p.Ala1984Thr)
|
rs574948016
|
0.00004
|
NM_001142800.2(EYS):c.6557G>A (p.Gly2186Glu)
|
rs527236068
|
0.00004
|
NM_001142800.2(EYS):c.6720A>G (p.Thr2240=)
|
rs745673257
|
0.00004
|
NM_001142800.2(EYS):c.6763A>G (p.Met2255Val)
|
rs1015509320
|
0.00004
|
NM_001142800.2(EYS):c.6874A>C (p.Asn2292His)
|
rs906094515
|
0.00004
|
NM_001142800.2(EYS):c.6891G>A (p.Lys2297=)
|
rs1297093544
|
0.00004
|
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter)
|
rs398123575
|
0.00004
|
NM_001142800.2(EYS):c.7251G>A (p.Arg2417=)
|
rs572836860
|
0.00004
|
NM_001142800.2(EYS):c.7411+11C>T
|
rs886061668
|
0.00004
|
NM_001142800.2(EYS):c.7422C>T (p.Gly2474=)
|
rs760224932
|
0.00004
|
NM_001142800.2(EYS):c.7492G>C (p.Ala2498Pro)
|
rs1311193836
|
0.00004
|
NM_001142800.2(EYS):c.7517A>G (p.Asn2506Ser)
|
rs1358747928
|
0.00004
|
NM_001142800.2(EYS):c.7579-20G>T
|
rs779287638
|
0.00004
|
NM_001142800.2(EYS):c.7669G>A (p.Glu2557Lys)
|
rs945318474
|
0.00004
|
NM_001142800.2(EYS):c.77G>A (p.Arg26Gln)
|
rs528733427
|
0.00004
|
NM_001142800.2(EYS):c.7949C>T (p.Ser2650Phe)
|
rs374714909
|
0.00004
|
NM_001142800.2(EYS):c.8003G>T (p.Cys2668Phe)
|
rs985211023
|
0.00004
|
NM_001142800.2(EYS):c.8186C>T (p.Ala2729Val)
|
rs377362833
|
0.00004
|
NM_001142800.2(EYS):c.8207C>T (p.Ala2736Val)
|
rs374200609
|
0.00004
|
NM_001142800.2(EYS):c.8229A>G (p.Gln2743=)
|
rs1285145867
|
0.00004
|
NM_001142800.2(EYS):c.8233+7T>C
|
rs147138312
|
0.00004
|
NM_001142800.2(EYS):c.863-15T>A
|
rs368478214
|
0.00004
|
NM_001142800.2(EYS):c.967G>T (p.Gly323Ter)
|
rs746499646
|
0.00004
|
NM_001142800.2(EYS):c.1135T>C (p.Leu379=)
|
rs376058849
|
0.00003
|
NM_001142800.2(EYS):c.1154G>A (p.Cys385Tyr)
|
rs775400880
|
0.00003
|
NM_001142800.2(EYS):c.1184+7T>C
|
rs769527969
|
0.00003
|
NM_001142800.2(EYS):c.1203T>C (p.Thr401=)
|
rs367639489
|
0.00003
|
NM_001142800.2(EYS):c.1300-6T>C
|
rs773799566
|
0.00003
|
NM_001142800.2(EYS):c.1314A>G (p.Pro438=)
|
rs375043207
|
0.00003
|
NM_001142800.2(EYS):c.132A>G (p.Thr44=)
|
rs754955077
|
0.00003
|
NM_001142800.2(EYS):c.1483G>C (p.Gly495Arg)
|
rs771221172
|
0.00003
|
NM_001142800.2(EYS):c.1652G>A (p.Arg551Gln)
|
rs773906269
|
0.00003
|
NM_001142800.2(EYS):c.1766+16T>G
|
rs372616764
|
0.00003
|
NM_001142800.2(EYS):c.1971T>A (p.Thr657=)
|
rs1189097279
|
0.00003
|
NM_001142800.2(EYS):c.2024-11A>G
|
rs769319791
|
0.00003
|
NM_001142800.2(EYS):c.2024-19T>C
|
rs893610471
|
0.00003
|
NM_001142800.2(EYS):c.2394A>G (p.Thr798=)
|
rs1211173176
|
0.00003
|
NM_001142800.2(EYS):c.2451A>G (p.Pro817=)
|
rs976957949
|
0.00003
|
NM_001142800.2(EYS):c.249A>G (p.Gln83=)
|
rs748381419
|
0.00003
|
NM_001142800.2(EYS):c.2593A>G (p.Thr865Ala)
|
rs1228765084
|
0.00003
|
NM_001142800.2(EYS):c.2642-8C>T
|
rs1417247668
|
0.00003
|
NM_001142800.2(EYS):c.2857A>G (p.Asn953Asp)
|
rs1326644818
|
0.00003
|
NM_001142800.2(EYS):c.2886C>G (p.Phe962Leu)
|
rs766153322
|
0.00003
|
NM_001142800.2(EYS):c.3039T>C (p.Cys1013=)
|
rs751096016
|
0.00003
|
NM_001142800.2(EYS):c.3164+8T>C
|
rs1385606496
|
0.00003
|
NM_001142800.2(EYS):c.3186A>G (p.Glu1062=)
|
rs769541648
|
0.00003
|
NM_001142800.2(EYS):c.3243+1G>A
|
rs1300490966
|
0.00003
|
NM_001142800.2(EYS):c.3266del (p.Met1089fs)
|
rs1329066633
|
0.00003
|
NM_001142800.2(EYS):c.3419G>A (p.Gly1140Glu)
|
rs995707027
|
0.00003
|
NM_001142800.2(EYS):c.3792C>T (p.Pro1264=)
|
rs551318605
|
0.00003
|
NM_001142800.2(EYS):c.3793C>T (p.Pro1265Ser)
|
rs1245332279
|
0.00003
|
NM_001142800.2(EYS):c.3809T>G (p.Val1270Gly)
|
rs368856942
|
0.00003
|
NM_001142800.2(EYS):c.4102G>A (p.Val1368Ile)
|
rs1314888456
|
0.00003
|
NM_001142800.2(EYS):c.4120C>T (p.Arg1374Ter)
|
rs928803207
|
0.00003
|
NM_001142800.2(EYS):c.4271C>T (p.Thr1424Met)
|
rs762521982
|
0.00003
|
NM_001142800.2(EYS):c.4308T>G (p.Ile1436Met)
|
rs1402137490
|
0.00003
|
NM_001142800.2(EYS):c.462T>C (p.Ser154=)
|
rs1291530765
|
0.00003
|
NM_001142800.2(EYS):c.5330T>C (p.Leu1777Ser)
|
rs947209456
|
0.00003
|
NM_001142800.2(EYS):c.5418G>A (p.Thr1806=)
|
rs550696465
|
0.00003
|
NM_001142800.2(EYS):c.5645-8C>T
|
rs886044616
|
0.00003
|
NM_001142800.2(EYS):c.5654G>T (p.Cys1885Phe)
|
rs528824271
|
0.00003
|
NM_001142800.2(EYS):c.5659C>T (p.Arg1887Cys)
|
rs748501500
|
0.00003
|
NM_001142800.2(EYS):c.5660G>A (p.Arg1887His)
|
rs1218030959
|
0.00003
|
NM_001142800.2(EYS):c.5776G>C (p.Asp1926His)
|
rs1051421896
|
0.00003
|
NM_001142800.2(EYS):c.5777A>G (p.Asp1926Gly)
|
rs727503922
|
0.00003
|
NM_001142800.2(EYS):c.5835+12A>G
|
rs988678775
|
0.00003
|
NM_001142800.2(EYS):c.5836-4A>G
|
rs569870900
|
0.00003
|
NM_001142800.2(EYS):c.5995A>G (p.Ile1999Val)
|
rs893294562
|
0.00003
|
NM_001142800.2(EYS):c.6010G>A (p.Gly2004Arg)
|
rs535282640
|
0.00003
|
NM_001142800.2(EYS):c.6062T>C (p.Leu2021Pro)
|
rs1372426303
|
0.00003
|
NM_001142800.2(EYS):c.606C>T (p.Cys202=)
|
rs149741810
|
0.00003
|
NM_001142800.2(EYS):c.6079-9C>G
|
rs1444608582
|
0.00003
|
NM_001142800.2(EYS):c.6151C>T (p.Pro2051Ser)
|
rs1187973861
|
0.00003
|
NM_001142800.2(EYS):c.6323G>A (p.Cys2108Tyr)
|
rs770111708
|
0.00003
|
NM_001142800.2(EYS):c.632G>T (p.Cys211Phe)
|
rs772707303
|
0.00003
|
NM_001142800.2(EYS):c.6562A>G (p.Ile2188Val)
|
rs184448644
|
0.00003
|
NM_001142800.2(EYS):c.6714del (p.Ile2239fs)
|
rs752953889
|
0.00003
|
NM_001142800.2(EYS):c.6726-6G>A
|
rs575406480
|
0.00003
|
NM_001142800.2(EYS):c.6726-7C>T
|
rs886782734
|
0.00003
|
NM_001142800.2(EYS):c.6822C>A (p.Ser2274=)
|
rs1055095941
|
0.00003
|
NM_001142800.2(EYS):c.6912G>A (p.Gly2304=)
|
rs745961740
|
0.00003
|
NM_001142800.2(EYS):c.7083T>C (p.Cys2361=)
|
rs777738708
|
0.00003
|
NM_001142800.2(EYS):c.7228+1G>A
|
rs758899480
|
0.00003
|
NM_001142800.2(EYS):c.7394C>G (p.Thr2465Ser)
|
rs145184183
|
0.00003
|
NM_001142800.2(EYS):c.7676C>T (p.Thr2559Ile)
|
rs913910892
|
0.00003
|
NM_001142800.2(EYS):c.7810C>T (p.Arg2604Cys)
|
rs1015857165
|
0.00003
|
NM_001142800.2(EYS):c.7820G>T (p.Gly2607Val)
|
rs1328331376
|
0.00003
|
NM_001142800.2(EYS):c.7823A>G (p.Gln2608Arg)
|
rs746055058
|
0.00003
|
NM_001142800.2(EYS):c.7937C>T (p.Thr2646Ile)
|
rs949510910
|
0.00003
|
NM_001142800.2(EYS):c.7994G>A (p.Gly2665Glu)
|
rs1435861529
|
0.00003
|
NM_001142800.2(EYS):c.8071+3G>A
|
rs976010036
|
0.00003
|
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter)
|
rs779983752
|
0.00003
|
NM_001142800.2(EYS):c.8163A>G (p.Gln2721=)
|
rs370845590
|
0.00003
|
NM_001142800.2(EYS):c.863-2A>C
|
rs761229979
|
0.00003
|
NM_001142800.2(EYS):c.868T>C (p.Phe290Leu)
|
rs373557623
|
0.00003
|
NM_001142800.2(EYS):c.892T>G (p.Cys298Gly)
|
rs375850148
|
0.00003
|
NM_001142800.2(EYS):c.91G>A (p.Glu31Lys)
|
rs572189652
|
0.00003
|
NM_001142800.2(EYS):c.943G>A (p.Ala315Thr)
|
rs771167869
|
0.00003
|
NM_001142800.2(EYS):c.-120G>C
|
rs1482471142
|
0.00002
|
NM_001142800.2(EYS):c.-252G>A
|
rs1440875342
|
0.00002
|
NM_001142800.2(EYS):c.-27T>C
|
rs769133109
|
0.00002
|
NM_001142800.2(EYS):c.-351C>T
|
rs761045622
|
0.00002
|
NM_001142800.2(EYS):c.-424C>A
|
rs1287269096
|
0.00002
|
NM_001142800.2(EYS):c.-448+5G>A
|
rs1175129177
|
0.00002
|
NM_001142800.2(EYS):c.-492T>A
|
rs954063114
|
0.00002
|
NM_001142800.2(EYS):c.-529G>A
|
rs931459704
|
0.00002
|
NM_001142800.2(EYS):c.1056+7C>A
|
rs776621229
|
0.00002
|
NM_001142800.2(EYS):c.1100G>C (p.Cys367Ser)
|
rs935618633
|
0.00002
|
NM_001142800.2(EYS):c.1490T>C (p.Ile497Thr)
|
rs1417899816
|
0.00002
|
NM_001142800.2(EYS):c.151T>C (p.Leu51=)
|
rs757997501
|
0.00002
|
NM_001142800.2(EYS):c.1665T>C (p.Phe555=)
|
rs376078491
|
0.00002
|
NM_001142800.2(EYS):c.1685T>C (p.Met562Thr)
|
rs371667376
|
0.00002
|
NM_001142800.2(EYS):c.1751A>C (p.Glu584Ala)
|
rs779081564
|
0.00002
|
NM_001142800.2(EYS):c.1766+1G>T
|
rs776204925
|
0.00002
|
NM_001142800.2(EYS):c.1820A>G (p.Tyr607Cys)
|
rs777062237
|
0.00002
|
NM_001142800.2(EYS):c.1835A>G (p.His612Arg)
|
rs1235347965
|
0.00002
|
NM_001142800.2(EYS):c.1929T>C (p.Asp643=)
|
rs1412901872
|
0.00002
|
NM_001142800.2(EYS):c.1999C>T (p.Arg667Cys)
|
rs765763663
|
0.00002
|
NM_001142800.2(EYS):c.2259+16C>T
|
rs755321049
|
0.00002
|
NM_001142800.2(EYS):c.2259+1G>A
|
rs752736741
|
0.00002
|
NM_001142800.2(EYS):c.2260-12A>G
|
rs908583068
|
0.00002
|
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu)
|
rs74419361
|
0.00002
|
NM_001142800.2(EYS):c.2625T>C (p.His875=)
|
rs778630663
|
0.00002
|
NM_001142800.2(EYS):c.2738+19G>A
|
rs1013111745
|
0.00002
|
NM_001142800.2(EYS):c.2748C>T (p.Cys916=)
|
rs1391928253
|
0.00002
|
NM_001142800.2(EYS):c.2770C>G (p.Leu924Val)
|
rs1040002337
|
0.00002
|
NM_001142800.2(EYS):c.2841A>G (p.Thr947=)
|
rs777627338
|
0.00002
|
NM_001142800.2(EYS):c.296C>T (p.Pro99Leu)
|
rs1239472721
|
0.00002
|
NM_001142800.2(EYS):c.2992G>A (p.Gly998Ser)
|
rs1010982936
|
0.00002
|
NM_001142800.2(EYS):c.3105T>G (p.Phe1035Leu)
|
rs969468917
|
0.00002
|
NM_001142800.2(EYS):c.3210T>C (p.Asp1070=)
|
rs1471482693
|
0.00002
|
NM_001142800.2(EYS):c.32dup (p.Met12fs)
|
rs779372264
|
0.00002
|
NM_001142800.2(EYS):c.3333T>A (p.Gly1111=)
|
rs1463620153
|
0.00002
|
NM_001142800.2(EYS):c.341G>A (p.Cys114Tyr)
|
rs533909681
|
0.00002
|
NM_001142800.2(EYS):c.3444-7T>A
|
rs1266219689
|
0.00002
|
NM_001142800.2(EYS):c.3503C>T (p.Ser1168Leu)
|
rs894122437
|
0.00002
|
NM_001142800.2(EYS):c.3569-12T>C
|
rs575959706
|
0.00002
|
NM_001142800.2(EYS):c.3569-7T>G
|
rs1036723042
|
0.00002
|
NM_001142800.2(EYS):c.3808G>A (p.Val1270Ile)
|
rs1284747107
|
0.00002
|
NM_001142800.2(EYS):c.3822A>C (p.Pro1274=)
|
rs924477825
|
0.00002
|
NM_001142800.2(EYS):c.3878G>T (p.Gly1293Val)
|
rs763158109
|
0.00002
|
NM_001142800.2(EYS):c.4003G>T (p.Ala1335Ser)
|
rs761342525
|
0.00002
|
NM_001142800.2(EYS):c.4101G>A (p.Ser1367=)
|
rs1358175561
|
0.00002
|
NM_001142800.2(EYS):c.4146C>A (p.Phe1382Leu)
|
rs748931820
|
0.00002
|
NM_001142800.2(EYS):c.4160G>A (p.Arg1387Lys)
|
rs1490023696
|
0.00002
|
NM_001142800.2(EYS):c.4444G>A (p.Glu1482Lys)
|
rs1022693876
|
0.00002
|
NM_001142800.2(EYS):c.4526A>G (p.Asn1509Ser)
|
rs531187735
|
0.00002
|
NM_001142800.2(EYS):c.492A>G (p.Arg164=)
|
rs983386840
|
0.00002
|
NM_001142800.2(EYS):c.5101C>T (p.Leu1701=)
|
rs776193099
|
0.00002
|
NM_001142800.2(EYS):c.511C>T (p.Gln171Ter)
|
rs747865323
|
0.00002
|
NM_001142800.2(EYS):c.5128A>G (p.Thr1710Ala)
|
rs947358402
|
0.00002
|
NM_001142800.2(EYS):c.516G>A (p.Gln172=)
|
rs1234486237
|
0.00002
|
NM_001142800.2(EYS):c.5371G>T (p.Val1791Phe)
|
rs1766369643
|
0.00002
|
NM_001142800.2(EYS):c.5448T>A (p.Asp1816Glu)
|
rs529055258
|
0.00002
|
NM_001142800.2(EYS):c.5779T>C (p.Ser1927Pro)
|
rs921629471
|
0.00002
|
NM_001142800.2(EYS):c.5841C>T (p.His1947=)
|
rs772523953
|
0.00002
|
NM_001142800.2(EYS):c.5901C>T (p.Asn1967=)
|
rs1024722910
|
0.00002
|
NM_001142800.2(EYS):c.5903G>A (p.Gly1968Glu)
|
rs754069174
|
0.00002
|
NM_001142800.2(EYS):c.597C>T (p.Ser199=)
|
rs759277468
|
0.00002
|
NM_001142800.2(EYS):c.600C>T (p.Cys200=)
|
rs145581501
|
0.00002
|
NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val)
|
rs868349465
|
0.00002
|
NM_001142800.2(EYS):c.60T>C (p.Asn20=)
|
rs766048690
|
0.00002
|
NM_001142800.2(EYS):c.6128T>A (p.Ile2043Lys)
|
rs1367602173
|
0.00002
|
NM_001142800.2(EYS):c.6192-1G>T
|
rs570020451
|
0.00002
|
NM_001142800.2(EYS):c.6424+8A>G
|
rs1025892256
|
0.00002
|
NM_001142800.2(EYS):c.6571+15T>A
|
rs777285010
|
0.00002
|
NM_001142800.2(EYS):c.6642T>C (p.Tyr2214=)
|
rs1335465165
|
0.00002
|
NM_001142800.2(EYS):c.6729C>T (p.Tyr2243=)
|
rs1357542778
|
0.00002
|
NM_001142800.2(EYS):c.672T>A (p.Asn224Lys)
|
rs754399844
|
0.00002
|
NM_001142800.2(EYS):c.6779C>T (p.Ala2260Val)
|
rs1393343998
|
0.00002
|
NM_001142800.2(EYS):c.6873A>G (p.Ala2291=)
|
rs1276691393
|
0.00002
|
NM_001142800.2(EYS):c.6934C>G (p.Leu2312Val)
|
rs564315274
|
0.00002
|
NM_001142800.2(EYS):c.6966C>T (p.Ile2322=)
|
rs966745404
|
0.00002
|
NM_001142800.2(EYS):c.6982G>A (p.Gly2328Arg)
|
rs746217317
|
0.00002
|
NM_001142800.2(EYS):c.7141G>A (p.Gly2381Arg)
|
rs577000027
|
0.00002
|
NM_001142800.2(EYS):c.7199A>G (p.Tyr2400Cys)
|
rs200471206
|
0.00002
|
NM_001142800.2(EYS):c.7212A>C (p.Gly2404=)
|
rs1178964789
|
0.00002
|
NM_001142800.2(EYS):c.7228+7G>A
|
rs1200302625
|
0.00002
|
NM_001142800.2(EYS):c.7315A>T (p.Ser2439Cys)
|
rs1034996144
|
0.00002
|
NM_001142800.2(EYS):c.7336C>T (p.Leu2446=)
|
rs1163160094
|
0.00002
|
NM_001142800.2(EYS):c.7459G>A (p.Val2487Met)
|
rs1204307982
|
0.00002
|
NM_001142800.2(EYS):c.7579-12T>C
|
rs867005897
|
0.00002
|
NM_001142800.2(EYS):c.7579-5C>T
|
rs948852415
|
0.00002
|
NM_001142800.2(EYS):c.7699G>A (p.Ala2567Thr)
|
rs1208734040
|
0.00002
|
NM_001142800.2(EYS):c.7816G>T (p.Val2606Phe)
|
rs1770111408
|
0.00002
|
NM_001142800.2(EYS):c.7898+12G>A
|
rs557020239
|
0.00002
|
NM_001142800.2(EYS):c.7899-20G>A
|
rs774620129
|
0.00002
|
NM_001142800.2(EYS):c.78_79dup (p.Gln27fs)
|
rs1352380841
|
0.00002
|
NM_001142800.2(EYS):c.7927T>C (p.Ser2643Pro)
|
rs748043031
|
0.00002
|
NM_001142800.2(EYS):c.8054G>A (p.Gly2685Glu)
|
rs919157306
|
0.00002
|
NM_001142800.2(EYS):c.8182G>A (p.Ala2728Thr)
|
rs995862502
|
0.00002
|
NM_001142800.2(EYS):c.863-5T>G
|
rs769184430
|
0.00002
|
NM_001142800.2(EYS):c.-133G>C
|
rs1319482879
|
0.00001
|
NM_001142800.2(EYS):c.-201C>T
|
rs555933041
|
0.00001
|
NM_001142800.2(EYS):c.-211C>T
|
rs1378885286
|
0.00001
|
NM_001142800.2(EYS):c.-277C>G
|
rs1379087184
|
0.00001
|
NM_001142800.2(EYS):c.-320A>G
|
rs969388354
|
0.00001
|
NM_001142800.2(EYS):c.-396G>C
|
rs575689241
|
0.00001
|
NM_001142800.2(EYS):c.-413T>A
|
rs1251075689
|
0.00001
|
NM_001142800.2(EYS):c.-473G>T
|
rs1769910185
|
0.00001
|
NM_001142800.2(EYS):c.-495T>C
|
rs886061688
|
0.00001
|
NM_001142800.2(EYS):c.-497_-496insTTA
|
rs1353080432
|
0.00001
|
NM_001142800.2(EYS):c.-51C>T
|
rs1239863395
|
0.00001
|
NM_001142800.2(EYS):c.1005G>T (p.Glu335Asp)
|
rs80095433
|
0.00001
|
NM_001142800.2(EYS):c.1011A>G (p.Ser337=)
|
rs544765237
|
0.00001
|
NM_001142800.2(EYS):c.1020A>T (p.Pro340=)
|
rs774480980
|
0.00001
|
NM_001142800.2(EYS):c.1056+1G>A
|
rs1195522061
|
0.00001
|
NM_001142800.2(EYS):c.1057-1G>A
|
rs776564041
|
0.00001
|
NM_001142800.2(EYS):c.1065G>A (p.Met355Ile)
|
rs1449183516
|
0.00001
|
NM_001142800.2(EYS):c.1096C>T (p.Leu366Phe)
|
rs770566051
|
0.00001
|
NM_001142800.2(EYS):c.1122T>C (p.Cys374=)
|
rs1363011952
|
0.00001
|
NM_001142800.2(EYS):c.1158G>A (p.Lys386=)
|
rs1766549682
|
0.00001
|
NM_001142800.2(EYS):c.1167G>A (p.Glu389=)
|
rs759581469
|
0.00001
|
NM_001142800.2(EYS):c.1209A>G (p.Lys403=)
|
rs541807757
|
0.00001
|
NM_001142800.2(EYS):c.1221A>G (p.Lys407=)
|
rs1765727318
|
0.00001
|
NM_001142800.2(EYS):c.1233C>T (p.His411=)
|
rs772593328
|
0.00001
|
NM_001142800.2(EYS):c.1247G>A (p.Ser416Asn)
|
rs761318837
|
0.00001
|
NM_001142800.2(EYS):c.1267G>A (p.Glu423Lys)
|
rs376209811
|
0.00001
|
NM_001142800.2(EYS):c.1272G>T (p.Trp424Cys)
|
rs1488525582
|
0.00001
|
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter)
|
rs1471994744
|
0.00001
|
NM_001142800.2(EYS):c.1316G>T (p.Gly439Val)
|
rs1183176426
|
0.00001
|
NM_001142800.2(EYS):c.1321A>C (p.Thr441Pro)
|
rs1308471912
|
0.00001
|
NM_001142800.2(EYS):c.1332A>G (p.Pro444=)
|
rs1265255465
|
0.00001
|
NM_001142800.2(EYS):c.1350T>C (p.Asn450=)
|
rs371781563
|
0.00001
|
NM_001142800.2(EYS):c.1365T>C (p.His455=)
|
rs1456193641
|
0.00001
|
NM_001142800.2(EYS):c.1381T>A (p.Cys461Ser)
|
rs1471424153
|
0.00001
|
NM_001142800.2(EYS):c.1397A>G (p.His466Arg)
|
rs773496819
|
0.00001
|
NM_001142800.2(EYS):c.1439T>G (p.Val480Gly)
|
rs1163522025
|
0.00001
|
NM_001142800.2(EYS):c.1447T>C (p.Leu483=)
|
rs778634641
|
0.00001
|
NM_001142800.2(EYS):c.1456G>T (p.Ala486Ser)
|
rs1020404683
|
0.00001
|
NM_001142800.2(EYS):c.1460-5T>A
|
rs1000894278
|
0.00001
|
NM_001142800.2(EYS):c.1485G>A (p.Gly495=)
|
rs1224745720
|
0.00001
|
NM_001142800.2(EYS):c.14C>A (p.Ser5Ter)
|
rs745916400
|
0.00001
|
NM_001142800.2(EYS):c.1515A>G (p.Ala505=)
|
rs1582164157
|
0.00001
|
NM_001142800.2(EYS):c.1516A>G (p.Asn506Asp)
|
rs1770304523
|
0.00001
|
NM_001142800.2(EYS):c.152T>C (p.Leu51Ser)
|
rs1489559245
|
0.00001
|
NM_001142800.2(EYS):c.1539T>C (p.Tyr513=)
|
rs778180391
|
0.00001
|
NM_001142800.2(EYS):c.1545C>T (p.Asn515=)
|
rs767589543
|
0.00001
|
NM_001142800.2(EYS):c.1568C>T (p.Ser523Leu)
|
rs556989074
|
0.00001
|
NM_001142800.2(EYS):c.1591A>C (p.Thr531Pro)
|
rs1260633321
|
0.00001
|
NM_001142800.2(EYS):c.1600-11C>T
|
rs755371579
|
0.00001
|
NM_001142800.2(EYS):c.1655A>T (p.Tyr552Phe)
|
rs369437226
|
0.00001
|
NM_001142800.2(EYS):c.168T>C (p.Asp56=)
|
rs1766210597
|
0.00001
|
NM_001142800.2(EYS):c.1707T>C (p.Asp569=)
|
rs1476671834
|
0.00001
|
NM_001142800.2(EYS):c.1741T>G (p.Cys581Gly)
|
rs558477347
|
0.00001
|
NM_001142800.2(EYS):c.1749T>C (p.Asp583=)
|
rs1235629295
|
0.00001
|
NM_001142800.2(EYS):c.174G>A (p.Trp58Ter)
|
rs1177052380
|
0.00001
|
NM_001142800.2(EYS):c.1767-18C>T
|
rs1433100876
|
0.00001
|
NM_001142800.2(EYS):c.1788C>T (p.Tyr596=)
|
rs765350464
|
0.00001
|
NM_001142800.2(EYS):c.1798T>C (p.Leu600=)
|
rs1394114017
|
0.00001
|
NM_001142800.2(EYS):c.1811A>G (p.Asn604Ser)
|
rs1274107268
|
0.00001
|
NM_001142800.2(EYS):c.1812del (p.Asn604fs)
|
rs1216698566
|
0.00001
|
NM_001142800.2(EYS):c.1845A>T (p.Ser615=)
|
rs1441340197
|
0.00001
|
NM_001142800.2(EYS):c.1854C>A (p.Gly618=)
|
rs1582111318
|
0.00001
|
NM_001142800.2(EYS):c.1867C>A (p.Leu623Ile)
|
rs1359987940
|
0.00001
|
NM_001142800.2(EYS):c.186A>C (p.Val62=)
|
rs1766209221
|
0.00001
|
NM_001142800.2(EYS):c.1871C>T (p.Ser624Leu)
|
rs548565748
|
0.00001
|
NM_001142800.2(EYS):c.1920T>C (p.Cys640=)
|
rs1374217956
|
0.00001
|
NM_001142800.2(EYS):c.1935A>G (p.Glu645=)
|
rs761881037
|
0.00001
|
NM_001142800.2(EYS):c.1982T>A (p.Leu661Ter)
|
rs1295206142
|
0.00001
|
NM_001142800.2(EYS):c.2004G>A (p.Lys668=)
|
rs1768647597
|
0.00001
|
NM_001142800.2(EYS):c.2023+5G>A
|
rs1287889008
|
0.00001
|
NM_001142800.2(EYS):c.2049T>C (p.Asp683=)
|
rs1170229751
|
0.00001
|
NM_001142800.2(EYS):c.2085C>T (p.Thr695=)
|
rs1479633946
|
0.00001
|
NM_001142800.2(EYS):c.2102G>A (p.Gly701Asp)
|
rs1027731148
|
0.00001
|
NM_001142800.2(EYS):c.2113T>C (p.Cys705Arg)
|
rs1327358769
|
0.00001
|
NM_001142800.2(EYS):c.2115C>T (p.Cys705=)
|
rs1394975481
|
0.00001
|
NM_001142800.2(EYS):c.2137+8A>G
|
rs1417171851
|
0.00001
|
NM_001142800.2(EYS):c.2160A>G (p.Leu720=)
|
rs1186966458
|
0.00001
|
NM_001142800.2(EYS):c.2230C>T (p.His744Tyr)
|
rs1458688528
|
0.00001
|
NM_001142800.2(EYS):c.2259+7A>G
|
rs1332103007
|
0.00001
|
NM_001142800.2(EYS):c.2260-6T>C
|
rs1769274047
|
0.00001
|
NM_001142800.2(EYS):c.2269T>C (p.Cys757Arg)
|
rs1051101987
|
0.00001
|
NM_001142800.2(EYS):c.2287T>C (p.Trp763Arg)
|
rs886061684
|
0.00001
|
NM_001142800.2(EYS):c.2319T>C (p.Asn773=)
|
rs1452209512
|
0.00001
|
NM_001142800.2(EYS):c.2326A>G (p.Lys776Glu)
|
rs1393913948
|
0.00001
|
NM_001142800.2(EYS):c.2337T>C (p.Pro779=)
|
rs1240951764
|
0.00001
|
NM_001142800.2(EYS):c.2346C>T (p.Asn782=)
|
rs989960179
|
0.00001
|
NM_001142800.2(EYS):c.2355C>T (p.Thr785=)
|
rs924694135
|
0.00001
|
NM_001142800.2(EYS):c.2378A>G (p.Tyr793Cys)
|
rs1248002900
|
0.00001
|
NM_001142800.2(EYS):c.2380C>T (p.Arg794Ter)
|
rs371032798
|
0.00001
|
NM_001142800.2(EYS):c.2381+10A>C
|
rs1207484094
|
0.00001
|
NM_001142800.2(EYS):c.2381+12A>G
|
rs997151187
|
0.00001
|
NM_001142800.2(EYS):c.2391T>C (p.Cys797=)
|
rs780170533
|
0.00001
|
NM_001142800.2(EYS):c.2423A>C (p.Glu808Ala)
|
rs1329809440
|
0.00001
|
NM_001142800.2(EYS):c.2443T>C (p.Ser815Pro)
|
rs1303059939
|
0.00001
|
NM_001142800.2(EYS):c.2463A>G (p.Gly821=)
|
rs765155122
|
0.00001
|
NM_001142800.2(EYS):c.2490T>C (p.Pro830=)
|
rs150194717
|
0.00001
|
NM_001142800.2(EYS):c.2495A>G (p.Gln832Arg)
|
rs1459583624
|
0.00001
|
NM_001142800.2(EYS):c.250T>C (p.Leu84=)
|
rs781133474
|
0.00001
|
NM_001142800.2(EYS):c.2511C>T (p.Cys837=)
|
rs999155902
|
0.00001
|
NM_001142800.2(EYS):c.2540A>G (p.His847Arg)
|
rs1460353199
|
0.00001
|
NM_001142800.2(EYS):c.2565A>G (p.Leu855=)
|
rs922753963
|
0.00001
|
NM_001142800.2(EYS):c.2577T>C (p.Pro859=)
|
rs1265766894
|
0.00001
|
NM_001142800.2(EYS):c.2622G>T (p.Gln874His)
|
rs377592930
|
0.00001
|
NM_001142800.2(EYS):c.2631T>C (p.Ile877=)
|
rs1392027064
|
0.00001
|
NM_001142800.2(EYS):c.2641+2T>C
|
rs960578029
|
0.00001
|
NM_001142800.2(EYS):c.2641+7G>A
|
rs757160958
|
0.00001
|
NM_001142800.2(EYS):c.2641+8C>A
|
rs886061683
|
0.00001
|
NM_001142800.2(EYS):c.2642-10C>T
|
rs1562251018
|
0.00001
|
NM_001142800.2(EYS):c.2644T>C (p.Phe882Leu)
|
rs759172997
|
0.00001
|
NM_001142800.2(EYS):c.2662G>A (p.Glu888Lys)
|
rs1345091519
|
0.00001
|
NM_001142800.2(EYS):c.2722A>G (p.Met908Val)
|
rs951142049
|
0.00001
|
NM_001142800.2(EYS):c.2811C>A (p.Cys937Ter)
|
rs1466666397
|
0.00001
|
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs)
|
rs878853349
|
0.00001
|
NM_001142800.2(EYS):c.2836C>T (p.Leu946=)
|
rs981685069
|
0.00001
|
NM_001142800.2(EYS):c.2881C>T (p.Pro961Ser)
|
rs1170138781
|
0.00001
|
NM_001142800.2(EYS):c.2883C>T (p.Pro961=)
|
rs1022377816
|
0.00001
|
NM_001142800.2(EYS):c.2889T>A (p.Cys963Ter)
|
rs989589885
|
0.00001
|
NM_001142800.2(EYS):c.2892A>C (p.Glu964Asp)
|
rs762212630
|
0.00001
|
NM_001142800.2(EYS):c.2898T>G (p.Asp966Glu)
|
rs1248778370
|
0.00001
|
NM_001142800.2(EYS):c.2944G>T (p.Val982Phe)
|
rs1347071957
|
0.00001
|
NM_001142800.2(EYS):c.2949C>T (p.Tyr983=)
|
rs772081210
|
0.00001
|
NM_001142800.2(EYS):c.2964C>G (p.Tyr988Ter)
|
rs1245121527
|
0.00001
|
NM_001142800.2(EYS):c.2988T>C (p.Tyr996=)
|
rs1413232600
|
0.00001
|
NM_001142800.2(EYS):c.2992+12T>A
|
rs1064794365
|
0.00001
|
NM_001142800.2(EYS):c.2992+16T>C
|
rs1444239296
|
0.00001
|
NM_001142800.2(EYS):c.3003T>A (p.Cys1001Ter)
|
rs1389794536
|
0.00001
|
NM_001142800.2(EYS):c.3027A>G (p.Leu1009=)
|
rs900271990
|
0.00001
|
NM_001142800.2(EYS):c.3036C>G (p.Pro1012=)
|
rs1410358551
|
0.00001
|
NM_001142800.2(EYS):c.3060C>T (p.Ile1020=)
|
rs538242132
|
0.00001
|
NM_001142800.2(EYS):c.3069C>G (p.Ile1023Met)
|
rs913116063
|
0.00001
|
NM_001142800.2(EYS):c.3081C>T (p.Thr1027=)
|
rs1554207086
|
0.00001
|
NM_001142800.2(EYS):c.3082T>A (p.Cys1028Ser)
|
rs1406985657
|
0.00001
|
NM_001142800.2(EYS):c.3083G>C (p.Cys1028Ser)
|
rs1407301072
|
0.00001
|
NM_001142800.2(EYS):c.3094A>T (p.Ser1032Cys)
|
rs982589279
|
0.00001
|
NM_001142800.2(EYS):c.3141T>G (p.Leu1047=)
|
rs955368246
|
0.00001
|
NM_001142800.2(EYS):c.3156A>G (p.Leu1052=)
|
rs1178403313
|
0.00001
|
NM_001142800.2(EYS):c.3164+1G>A
|
rs1029564423
|
0.00001
|
NM_001142800.2(EYS):c.3164+7del
|
rs1562210133
|
0.00001
|
NM_001142800.2(EYS):c.3164+9T>A
|
rs1015121917
|
0.00001
|
NM_001142800.2(EYS):c.3165-1G>A
|
rs1349089552
|
0.00001
|
NM_001142800.2(EYS):c.3165-9G>C
|
rs1037090161
|
0.00001
|
NM_001142800.2(EYS):c.3204T>C (p.Asp1068=)
|
rs923464095
|
0.00001
|
NM_001142800.2(EYS):c.3264T>C (p.Cys1088=)
|
rs1316876670
|
0.00001
|
NM_001142800.2(EYS):c.3293C>A (p.Ala1098Glu)
|
rs561156283
|
0.00001
|
NM_001142800.2(EYS):c.3320G>A (p.Arg1107His)
|
rs758414726
|
0.00001
|
NM_001142800.2(EYS):c.3350G>A (p.Ser1117Asn)
|
rs1001606082
|
0.00001
|
NM_001142800.2(EYS):c.3420G>A (p.Gly1140=)
|
rs1325335839
|
0.00001
|
NM_001142800.2(EYS):c.3426A>G (p.Gly1142=)
|
rs1373584107
|
0.00001
|
NM_001142800.2(EYS):c.3443G>A (p.Arg1148Lys)
|
rs1334016191
|
0.00001
|
NM_001142800.2(EYS):c.3450T>C (p.Leu1150=)
|
rs1337453505
|
0.00001
|
NM_001142800.2(EYS):c.3508T>C (p.Cys1170Arg)
|
rs1243635695
|
0.00001
|
NM_001142800.2(EYS):c.3513A>C (p.Leu1171=)
|
rs1767603467
|
0.00001
|
NM_001142800.2(EYS):c.3522A>T (p.Ala1174=)
|
rs1292114239
|
0.00001
|
NM_001142800.2(EYS):c.3569-10T>C
|
rs1293900692
|
0.00001
|
NM_001142800.2(EYS):c.3606C>T (p.Cys1202=)
|
rs1297699863
|
0.00001
|
NM_001142800.2(EYS):c.360G>A (p.Thr120=)
|
rs745859722
|
0.00001
|
NM_001142800.2(EYS):c.3633C>G (p.Leu1211=)
|
rs765825077
|
0.00001
|
NM_001142800.2(EYS):c.3660A>G (p.Thr1220=)
|
rs1323187382
|
0.00001
|
NM_001142800.2(EYS):c.3685-8A>G
|
rs1009059396
|
0.00001
|
NM_001142800.2(EYS):c.3688T>A (p.Cys1230Ser)
|
rs1258171232
|
0.00001
|
NM_001142800.2(EYS):c.3702T>C (p.Leu1234=)
|
rs1026776116
|
0.00001
|
NM_001142800.2(EYS):c.3731C>T (p.Thr1244Ile)
|
rs531860176
|
0.00001
|
NM_001142800.2(EYS):c.3877+6T>C
|
rs937888425
|
0.00001
|
NM_001142800.2(EYS):c.3878-6T>C
|
rs1169057656
|
0.00001
|
NM_001142800.2(EYS):c.3882A>G (p.Pro1294=)
|
rs572071028
|
0.00001
|
NM_001142800.2(EYS):c.3918A>T (p.Pro1306=)
|
rs997369455
|
0.00001
|
NM_001142800.2(EYS):c.3922A>G (p.Thr1308Ala)
|
rs1223693086
|
0.00001
|
NM_001142800.2(EYS):c.3924T>C (p.Thr1308=)
|
rs903929671
|
0.00001
|
NM_001142800.2(EYS):c.3941G>A (p.Arg1314Lys)
|
rs1330067403
|
0.00001
|
NM_001142800.2(EYS):c.3963C>A (p.Ser1321Arg)
|
rs1176129835
|
0.00001
|
NM_001142800.2(EYS):c.3970del (p.Leu1324fs)
|
rs1431710414
|
0.00001
|
NM_001142800.2(EYS):c.3971T>C (p.Leu1324Pro)
|
rs945529523
|
0.00001
|
NM_001142800.2(EYS):c.3984T>A (p.Ile1328=)
|
rs1282397004
|
0.00001
|
NM_001142800.2(EYS):c.4030G>A (p.Asp1344Asn)
|
rs980448170
|
0.00001
|
NM_001142800.2(EYS):c.4040C>T (p.Ser1347Phe)
|
rs1381182480
|
0.00001
|
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter)
|
rs930421180
|
0.00001
|
NM_001142800.2(EYS):c.4062T>C (p.Gly1354=)
|
rs566859485
|
0.00001
|
NM_001142800.2(EYS):c.4107A>T (p.Ser1369=)
|
rs996856507
|
0.00001
|
NM_001142800.2(EYS):c.4149T>C (p.Phe1383=)
|
rs1562080448
|
0.00001
|
NM_001142800.2(EYS):c.414T>C (p.Ser138=)
|
rs1766194192
|
0.00001
|
NM_001142800.2(EYS):c.4190C>A (p.Ser1397Tyr)
|
rs892657143
|
0.00001
|
NM_001142800.2(EYS):c.4199C>A (p.Ser1400Ter)
|
rs1245304444
|
0.00001
|
NM_001142800.2(EYS):c.41T>C (p.Phe14Ser)
|
rs767517924
|
0.00001
|
NM_001142800.2(EYS):c.4216A>G (p.Thr1406Ala)
|
rs866402714
|
0.00001
|
NM_001142800.2(EYS):c.4219C>T (p.Gln1407Ter)
|
rs1421392730
|
0.00001
|
NM_001142800.2(EYS):c.4227A>G (p.Leu1409=)
|
rs756697660
|
0.00001
|
NM_001142800.2(EYS):c.4238A>C (p.Asn1413Thr)
|
rs911102553
|
0.00001
|
NM_001142800.2(EYS):c.4260T>G (p.Ser1420=)
|
rs1562080300
|
0.00001
|
NM_001142800.2(EYS):c.4269A>G (p.Pro1423=)
|
rs1766412284
|
0.00001
|
NM_001142800.2(EYS):c.4296A>G (p.Pro1432=)
|
rs1766411414
|
0.00001
|
NM_001142800.2(EYS):c.4300G>A (p.Ala1434Thr)
|
rs748234752
|
0.00001
|
NM_001142800.2(EYS):c.4302T>A (p.Ala1434=)
|
rs776913463
|
0.00001
|
NM_001142800.2(EYS):c.4326A>T (p.Ser1442=)
|
rs1340543682
|
0.00001
|
NM_001142800.2(EYS):c.4339G>C (p.Gly1447Arg)
|
rs1459655912
|
0.00001
|
NM_001142800.2(EYS):c.4347G>C (p.Leu1449=)
|
rs1582930118
|
0.00001
|
NM_001142800.2(EYS):c.4359C>T (p.Ala1453=)
|
rs1234718880
|
0.00001
|
NM_001142800.2(EYS):c.4407T>C (p.Ile1469=)
|
rs1159159521
|
0.00001
|
NM_001142800.2(EYS):c.4432A>G (p.Ile1478Val)
|
rs968087660
|
0.00001
|
NM_001142800.2(EYS):c.4440A>G (p.Arg1480=)
|
rs886061675
|
0.00001
|
NM_001142800.2(EYS):c.4452G>A (p.Trp1484Ter)
|
rs1428994453
|
0.00001
|
NM_001142800.2(EYS):c.4456T>C (p.Leu1486=)
|
rs1312747119
|
0.00001
|
NM_001142800.2(EYS):c.4478C>T (p.Pro1493Leu)
|
rs763161282
|
0.00001
|
NM_001142800.2(EYS):c.447C>T (p.Ile149=)
|
rs761035271
|
0.00001
|
NM_001142800.2(EYS):c.4488T>C (p.Pro1496=)
|
rs773780169
|
0.00001
|
NM_001142800.2(EYS):c.4503A>G (p.Ile1501Met)
|
rs765829827
|
0.00001
|
NM_001142800.2(EYS):c.4518C>T (p.Thr1506=)
|
rs762462334
|
0.00001
|
NM_001142800.2(EYS):c.4545G>A (p.Arg1515=)
|
rs1221908375
|
0.00001
|
NM_001142800.2(EYS):c.4638T>G (p.Ala1546=)
|
rs1295600101
|
0.00001
|
NM_001142800.2(EYS):c.4651G>T (p.Glu1551Ter)
|
rs1305702728
|
0.00001
|
NM_001142800.2(EYS):c.46A>T (p.Ser16Cys)
|
rs928137858
|
0.00001
|
NM_001142800.2(EYS):c.4715A>G (p.Asp1572Gly)
|
rs1766395912
|
0.00001
|
NM_001142800.2(EYS):c.4718A>C (p.Gln1573Pro)
|
rs1248199893
|
0.00001
|
NM_001142800.2(EYS):c.4725G>A (p.Leu1575=)
|
rs1467576430
|
0.00001
|
NM_001142800.2(EYS):c.4740C>T (p.Ser1580=)
|
rs1437138169
|
0.00001
|
NM_001142800.2(EYS):c.4773G>A (p.Ala1591=)
|
rs1262061805
|
0.00001
|
NM_001142800.2(EYS):c.47G>T (p.Ser16Ile)
|
rs755010017
|
0.00001
|
NM_001142800.2(EYS):c.4805C>T (p.Ala1602Val)
|
rs1353073807
|
0.00001
|
NM_001142800.2(EYS):c.4824G>T (p.Gly1608=)
|
rs1766390148
|
0.00001
|
NM_001142800.2(EYS):c.4841C>G (p.Ala1614Gly)
|
rs1312195779
|
0.00001
|
NM_001142800.2(EYS):c.4843A>G (p.Thr1615Ala)
|
rs566502407
|
0.00001
|
NM_001142800.2(EYS):c.4845T>C (p.Thr1615=)
|
rs1562079704
|
0.00001
|
NM_001142800.2(EYS):c.487C>T (p.Leu163Phe)
|
rs144074328
|
0.00001
|
NM_001142800.2(EYS):c.4890T>C (p.Phe1630=)
|
rs922506231
|
0.00001
|
NM_001142800.2(EYS):c.490C>T (p.Arg164Ter)
|
rs794727631
|
0.00001
|
NM_001142800.2(EYS):c.491G>A (p.Arg164Gln)
|
rs755752918
|
0.00001
|
NM_001142800.2(EYS):c.4955C>G (p.Ser1652Ter)
|
rs909730457
|
0.00001
|
NM_001142800.2(EYS):c.4959T>C (p.Ser1653=)
|
rs1239943833
|
0.00001
|
NM_001142800.2(EYS):c.4962T>C (p.Asn1654=)
|
rs751219694
|
0.00001
|
NM_001142800.2(EYS):c.4964T>C (p.Leu1655Ser)
|
rs765407986
|
0.00001
|
NM_001142800.2(EYS):c.5022C>G (p.Ile1674Met)
|
rs1024206960
|
0.00001
|
NM_001142800.2(EYS):c.5054C>G (p.Ser1685Ter)
|
rs1293996279
|
0.00001
|
NM_001142800.2(EYS):c.5073A>G (p.Glu1691=)
|
rs774506293
|
0.00001
|
NM_001142800.2(EYS):c.5100A>T (p.Lys1700Asn)
|
rs1267480820
|
0.00001
|
NM_001142800.2(EYS):c.5103A>G (p.Leu1701=)
|
rs1231741405
|
0.00001
|
NM_001142800.2(EYS):c.5110A>T (p.Ile1704Leu)
|
rs1458502593
|
0.00001
|
NM_001142800.2(EYS):c.5114G>A (p.Arg1705Lys)
|
rs1260159911
|
0.00001
|
NM_001142800.2(EYS):c.5131A>G (p.Met1711Val)
|
rs913147481
|
0.00001
|
NM_001142800.2(EYS):c.5186A>C (p.Lys1729Thr)
|
rs1378944082
|
0.00001
|
NM_001142800.2(EYS):c.5196T>C (p.His1732=)
|
rs1440656092
|
0.00001
|
NM_001142800.2(EYS):c.5200C>T (p.Leu1734=)
|
rs1202220867
|
0.00001
|
NM_001142800.2(EYS):c.5213A>T (p.His1738Leu)
|
rs1766376015
|
0.00001
|
NM_001142800.2(EYS):c.5214C>T (p.His1738=)
|
rs765960053
|
0.00001
|
NM_001142800.2(EYS):c.5229T>C (p.Ser1743=)
|
rs1378777319
|
0.00001
|
NM_001142800.2(EYS):c.5241G>A (p.Glu1747=)
|
rs1402453288
|
0.00001
|
NM_001142800.2(EYS):c.5262G>A (p.Pro1754=)
|
rs779784002
|
0.00001
|
NM_001142800.2(EYS):c.5264A>T (p.Asp1755Val)
|
rs1185867411
|
0.00001
|
NM_001142800.2(EYS):c.5279C>G (p.Thr1760Arg)
|
rs1423659317
|
0.00001
|
NM_001142800.2(EYS):c.5319T>C (p.Asn1773=)
|
rs1314381547
|
0.00001
|
NM_001142800.2(EYS):c.5329T>C (p.Leu1777=)
|
rs1042931370
|
0.00001
|
NM_001142800.2(EYS):c.5343G>A (p.Val1781=)
|
rs1369443470
|
0.00001
|
NM_001142800.2(EYS):c.5347G>A (p.Asp1783Asn)
|
rs1167122731
|
0.00001
|
NM_001142800.2(EYS):c.5374G>A (p.Ala1792Thr)
|
rs901144230
|
0.00001
|
NM_001142800.2(EYS):c.5395A>G (p.Thr1799Ala)
|
rs144694451
|
0.00001
|
NM_001142800.2(EYS):c.5433T>C (p.Ser1811=)
|
rs1451969697
|
0.00001
|
NM_001142800.2(EYS):c.5454A>G (p.Pro1818=)
|
rs1198934031
|
0.00001
|
NM_001142800.2(EYS):c.5457T>C (p.Tyr1819=)
|
rs1199375421
|
0.00001
|
NM_001142800.2(EYS):c.5487A>G (p.Lys1829=)
|
rs373872866
|
0.00001
|
NM_001142800.2(EYS):c.5505A>C (p.Ser1835=)
|
rs1172059380
|
0.00001
|
NM_001142800.2(EYS):c.5511G>A (p.Trp1837Ter)
|
rs745574120
|
0.00001
|
NM_001142800.2(EYS):c.5568G>A (p.Arg1856=)
|
rs1016126628
|
0.00001
|
NM_001142800.2(EYS):c.5591T>A (p.Leu1864His)
|
rs888456388
|
0.00001
|
NM_001142800.2(EYS):c.5618T>G (p.Leu1873Arg)
|
rs750613634
|
0.00001
|
NM_001142800.2(EYS):c.5644+5G>A
|
rs794727412
|
0.00001
|
NM_001142800.2(EYS):c.5645-12C>A
|
rs568674779
|
0.00001
|
NM_001142800.2(EYS):c.5651G>A (p.Ser1884Asn)
|
rs1045693834
|
0.00001
|
NM_001142800.2(EYS):c.5675C>T (p.Ser1892Phe)
|
rs559880561
|
0.00001
|
NM_001142800.2(EYS):c.5681T>C (p.Leu1894Pro)
|
rs780566602
|
0.00001
|
NM_001142800.2(EYS):c.5733T>G (p.Phe1911Leu)
|
rs1218274693
|
0.00001
|
NM_001142800.2(EYS):c.5751T>C (p.Tyr1917=)
|
rs1206206296
|
0.00001
|
NM_001142800.2(EYS):c.5755C>T (p.Leu1919Phe)
|
rs1275377315
|
0.00001
|
NM_001142800.2(EYS):c.5784T>C (p.Asn1928=)
|
rs1248852815
|
0.00001
|
NM_001142800.2(EYS):c.57A>G (p.Ile19Met)
|
rs751094898
|
0.00001
|
NM_001142800.2(EYS):c.5819A>G (p.Glu1940Gly)
|
rs913037643
|
0.00001
|
NM_001142800.2(EYS):c.5830T>A (p.Leu1944Ile)
|
rs1232523835
|
0.00001
|
NM_001142800.2(EYS):c.5835+19T>C
|
rs1774851205
|
0.00001
|
NM_001142800.2(EYS):c.5836-3C>T
|
rs748977292
|
0.00001
|
NM_001142800.2(EYS):c.583A>C (p.Ser195Arg)
|
rs753945993
|
0.00001
|
NM_001142800.2(EYS):c.584G>A (p.Ser195Asn)
|
rs1562221183
|
0.00001
|
NM_001142800.2(EYS):c.5857G>T (p.Glu1953Ter)
|
rs137853189
|
0.00001
|
NM_001142800.2(EYS):c.5865A>G (p.Lys1955=)
|
rs1210464575
|
0.00001
|
NM_001142800.2(EYS):c.5893G>A (p.Val1965Met)
|
rs967520282
|
0.00001
|
NM_001142800.2(EYS):c.5910G>A (p.Lys1970=)
|
rs529976938
|
0.00001
|
NM_001142800.2(EYS):c.5928-7G>C
|
rs1298069575
|
0.00001
|
NM_001142800.2(EYS):c.5928-8G>C
|
rs1339309007
|
0.00001
|
NM_001142800.2(EYS):c.592T>A (p.Tyr198Asn)
|
rs886061686
|
0.00001
|
NM_001142800.2(EYS):c.5935T>C (p.Leu1979=)
|
rs962496239
|
0.00001
|
NM_001142800.2(EYS):c.5953G>A (p.Glu1985Lys)
|
rs1196390028
|
0.00001
|
NM_001142800.2(EYS):c.5955G>A (p.Glu1985=)
|
rs1316970477
|
0.00001
|
NM_001142800.2(EYS):c.5959A>C (p.Thr1987Pro)
|
rs1278246029
|
0.00001
|
NM_001142800.2(EYS):c.5962A>G (p.Ile1988Val)
|
rs1561965262
|
0.00001
|
NM_001142800.2(EYS):c.5975A>G (p.Asn1992Ser)
|
rs762475623
|
0.00001
|
NM_001142800.2(EYS):c.5993C>G (p.Ser1998Cys)
|
rs1464245433
|
0.00001
|
NM_001142800.2(EYS):c.6003T>C (p.His2001=)
|
rs1168554087
|
0.00001
|
NM_001142800.2(EYS):c.6004G>A (p.Val2002Ile)
|
rs1476439486
|
0.00001
|
NM_001142800.2(EYS):c.6025A>G (p.Lys2009Glu)
|
rs559078881
|
0.00001
|
NM_001142800.2(EYS):c.6047G>A (p.Gly2016Asp)
|
rs886061672
|
0.00001
|
NM_001142800.2(EYS):c.6060C>A (p.Asp2020Glu)
|
rs1427608537
|
0.00001
|
NM_001142800.2(EYS):c.6078+10T>C
|
rs1435223614
|
0.00001
|
NM_001142800.2(EYS):c.6078+9A>G
|
rs1172112238
|
0.00001
|
NM_001142800.2(EYS):c.6079-18T>C
|
rs926199105
|
0.00001
|
NM_001142800.2(EYS):c.6084T>C (p.Pro2028=)
|
rs1377136843
|
0.00001
|
NM_001142800.2(EYS):c.6104C>A (p.Thr2035Asn)
|
rs1769478067
|
0.00001
|
NM_001142800.2(EYS):c.6173A>G (p.Tyr2058Cys)
|
rs1486367630
|
0.00001
|
NM_001142800.2(EYS):c.6183C>T (p.Asn2061=)
|
rs958734685
|
0.00001
|
NM_001142800.2(EYS):c.6191+1G>A
|
rs1048032321
|
0.00001
|
NM_001142800.2(EYS):c.6191+8A>G
|
rs1354489200
|
0.00001
|
NM_001142800.2(EYS):c.6201A>G (p.Gly2067=)
|
rs1475370698
|
0.00001
|
NM_001142800.2(EYS):c.6222C>T (p.Ala2074=)
|
rs1212504453
|
0.00001
|
NM_001142800.2(EYS):c.6225C>T (p.Ser2075=)
|
rs1272738105
|
0.00001
|
NM_001142800.2(EYS):c.6279C>T (p.Val2093=)
|
rs1433977403
|
0.00001
|
NM_001142800.2(EYS):c.630C>G (p.Tyr210Ter)
|
rs1469481918
|
0.00001
|
NM_001142800.2(EYS):c.6316G>T (p.Asp2106Tyr)
|
rs369266984
|
0.00001
|
NM_001142800.2(EYS):c.6348C>T (p.Ala2116=)
|
rs1287331567
|
0.00001
|
NM_001142800.2(EYS):c.634C>T (p.Gln212Ter)
|
rs371915861
|
0.00001
|
NM_001142800.2(EYS):c.6374C>G (p.Ser2125Ter)
|
rs746829106
|
0.00001
|
NM_001142800.2(EYS):c.63A>G (p.Gly21=)
|
rs1438645565
|
0.00001
|
NM_001142800.2(EYS):c.6407G>C (p.Gly2136Ala)
|
rs1252532483
|
0.00001
|
NM_001142800.2(EYS):c.6419A>G (p.Glu2140Gly)
|
rs1455868871
|
0.00001
|
NM_001142800.2(EYS):c.6424+10C>T
|
rs201379237
|
0.00001
|
NM_001142800.2(EYS):c.642T>C (p.Leu214=)
|
rs1766180254
|
0.00001
|
NM_001142800.2(EYS):c.6438C>T (p.Phe2146=)
|
rs578167289
|
0.00001
|
NM_001142800.2(EYS):c.6446C>A (p.Ser2149Tyr)
|
rs537922564
|
0.00001
|
NM_001142800.2(EYS):c.6453T>C (p.Asn2151=)
|
rs1232084521
|
0.00001
|
NM_001142800.2(EYS):c.6476C>T (p.Pro2159Leu)
|
rs1033509618
|
0.00001
|
NM_001142800.2(EYS):c.6485A>C (p.Lys2162Thr)
|
rs1039415909
|
0.00001
|
NM_001142800.2(EYS):c.6485A>T (p.Lys2162Met)
|
rs1039415909
|
0.00001
|
NM_001142800.2(EYS):c.6486G>A (p.Lys2162=)
|
rs1347115248
|
0.00001
|
NM_001142800.2(EYS):c.6489T>G (p.Phe2163Leu)
|
rs1771986869
|
0.00001
|
NM_001142800.2(EYS):c.6490del (p.Val2164fs)
|
rs1163089098
|
0.00001
|
NM_001142800.2(EYS):c.6506A>G (p.His2169Arg)
|
rs1426659267
|
0.00001
|
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter)
|
rs797045089
|
0.00001
|
NM_001142800.2(EYS):c.6529T>C (p.Leu2177=)
|
rs1771984429
|
0.00001
|
NM_001142800.2(EYS):c.6563T>C (p.Ile2188Thr)
|
rs1562190751
|
0.00001
|
NM_001142800.2(EYS):c.6570C>T (p.Tyr2190=)
|
rs892427334
|
0.00001
|
NM_001142800.2(EYS):c.6571+12A>C
|
rs753391429
|
0.00001
|
NM_001142800.2(EYS):c.6571+1G>A
|
rs1193854376
|
0.00001
|
NM_001142800.2(EYS):c.6571+20C>T
|
rs755852518
|
0.00001
|
NM_001142800.2(EYS):c.6582T>C (p.Asn2194=)
|
rs765847813
|
0.00001
|
NM_001142800.2(EYS):c.6585T>C (p.Asn2195=)
|
rs1436915469
|
0.00001
|
NM_001142800.2(EYS):c.6624A>C (p.Gly2208=)
|
rs1033431714
|
0.00001
|
NM_001142800.2(EYS):c.6626G>A (p.Arg2209Lys)
|
rs761797334
|
0.00001
|
NM_001142800.2(EYS):c.663A>T (p.Pro221=)
|
rs1230479706
|
0.00001
|
NM_001142800.2(EYS):c.6669G>C (p.Leu2223Phe)
|
rs1295742707
|
0.00001
|
NM_001142800.2(EYS):c.6696C>A (p.Asn2232Lys)
|
rs946318214
|
0.00001
|
NM_001142800.2(EYS):c.6702T>C (p.Asn2234=)
|
rs1183277671
|
0.00001
|
NM_001142800.2(EYS):c.6711C>A (p.Thr2237=)
|
rs770826563
|
0.00001
|
NM_001142800.2(EYS):c.6714T>C (p.Pro2238=)
|
rs1378886659
|
0.00001
|
NM_001142800.2(EYS):c.6724C>G (p.Arg2242Gly)
|
rs990350691
|
0.00001
|
NM_001142800.2(EYS):c.6724C>T (p.Arg2242Cys)
|
rs990350691
|
0.00001
|
NM_001142800.2(EYS):c.6725+9T>C
|
rs886061671
|
0.00001
|
NM_001142800.2(EYS):c.6726-12T>C
|
rs545960584
|
0.00001
|
NM_001142800.2(EYS):c.6735G>A (p.Thr2245=)
|
rs776003310
|
0.00001
|
NM_001142800.2(EYS):c.6782A>G (p.Asp2261Gly)
|
rs893275648
|
0.00001
|
NM_001142800.2(EYS):c.6801G>A (p.Gln2267=)
|
rs535631562
|
0.00001
|
NM_001142800.2(EYS):c.6827C>T (p.Ala2276Val)
|
rs1054721154
|
0.00001
|
NM_001142800.2(EYS):c.6830C>T (p.Ser2277Phe)
|
rs1323615607
|
0.00001
|
NM_001142800.2(EYS):c.6831T>A (p.Ser2277=)
|
rs1270742107
|
0.00001
|
NM_001142800.2(EYS):c.6834+15A>G
|
rs1213902247
|
0.00001
|
NM_001142800.2(EYS):c.684C>A (p.Cys228Ter)
|
rs1312069480
|
0.00001
|
NM_001142800.2(EYS):c.6850A>G (p.Met2284Val)
|
rs1767268298
|
0.00001
|
NM_001142800.2(EYS):c.6879T>C (p.Val2293=)
|
rs1303938517
|
0.00001
|
NM_001142800.2(EYS):c.6888T>C (p.His2296=)
|
rs1357255596
|
0.00001
|
NM_001142800.2(EYS):c.6897A>G (p.Ala2299=)
|
rs1371643132
|
0.00001
|
NM_001142800.2(EYS):c.690T>C (p.Asn230=)
|
rs751296542
|
0.00001
|
NM_001142800.2(EYS):c.6911G>A (p.Gly2304Glu)
|
rs773046364
|
0.00001
|
NM_001142800.2(EYS):c.6928C>A (p.Leu2310Ile)
|
rs1470569799
|
0.00001
|
NM_001142800.2(EYS):c.6929T>C (p.Leu2310Pro)
|
rs1253820214
|
0.00001
|
NM_001142800.2(EYS):c.6967G>A (p.Asp2323Asn)
|
rs747666847
|
0.00001
|
NM_001142800.2(EYS):c.6969T>C (p.Asp2323=)
|
rs1487879752
|
0.00001
|
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter)
|
rs1060499783
|
0.00001
|
NM_001142800.2(EYS):c.7003C>T (p.His2335Tyr)
|
rs1343612158
|
0.00001
|
NM_001142800.2(EYS):c.7005C>T (p.His2335=)
|
rs754317397
|
0.00001
|
NM_001142800.2(EYS):c.7011T>G (p.Pro2337=)
|
rs1156461790
|
0.00001
|
NM_001142800.2(EYS):c.7026T>C (p.His2342=)
|
rs1185982984
|
0.00001
|
NM_001142800.2(EYS):c.7047C>T (p.Thr2349=)
|
rs1767253468
|
0.00001
|
NM_001142800.2(EYS):c.7048T>C (p.Cys2350Arg)
|
rs935531910
|
0.00001
|
NM_001142800.2(EYS):c.7053C>A (p.Ile2351=)
|
rs377036936
|
0.00001
|
NM_001142800.2(EYS):c.7056-17A>T
|
rs1035114303
|
0.00001
|
NM_001142800.2(EYS):c.7056-8C>T
|
rs746624126
|
0.00001
|
NM_001142800.2(EYS):c.7056-9C>T
|
rs1362023747
|
0.00001
|
NM_001142800.2(EYS):c.7059T>G (p.Asp2353Glu)
|
rs771265979
|
0.00001
|
NM_001142800.2(EYS):c.7062T>C (p.Asn2354=)
|
rs1367535493
|
0.00001
|
NM_001142800.2(EYS):c.7065A>C (p.Glu2355Asp)
|
rs749617474
|
0.00001
|
NM_001142800.2(EYS):c.709G>A (p.Glu237Lys)
|
rs372875560
|
0.00001
|
NM_001142800.2(EYS):c.70T>C (p.Cys24Arg)
|
rs772924320
|
0.00001
|
NM_001142800.2(EYS):c.7112A>G (p.Gln2371Arg)
|
rs989241722
|
0.00001
|
NM_001142800.2(EYS):c.7122T>C (p.Ser2374=)
|
rs890076073
|
0.00001
|
NM_001142800.2(EYS):c.7170C>T (p.Ser2390=)
|
rs201364943
|
0.00001
|
NM_001142800.2(EYS):c.7188C>T (p.Cys2396=)
|
rs1308579911
|
0.00001
|
NM_001142800.2(EYS):c.7222A>G (p.Thr2408Ala)
|
rs1418033120
|
0.00001
|
NM_001142800.2(EYS):c.7227T>C (p.Asp2409=)
|
rs762804865
|
0.00001
|
NM_001142800.2(EYS):c.7228+6A>G
|
rs750245367
|
0.00001
|
NM_001142800.2(EYS):c.7228+7G>C
|
rs1200302625
|
0.00001
|
NM_001142800.2(EYS):c.7229-5C>T
|
rs1256025461
|
0.00001
|
NM_001142800.2(EYS):c.7247C>G (p.Pro2416Arg)
|
rs1355664698
|
0.00001
|
NM_001142800.2(EYS):c.7274G>A (p.Gly2425Glu)
|
rs1201593554
|
0.00001
|
NM_001142800.2(EYS):c.7277dup (p.Tyr2426Ter)
|
rs1303821903
|
0.00001
|
NM_001142800.2(EYS):c.7281C>T (p.Thr2427=)
|
rs745331821
|
0.00001
|
NM_001142800.2(EYS):c.7296T>C (p.Tyr2432=)
|
rs1342009710
|
0.00001
|
NM_001142800.2(EYS):c.7300C>T (p.Arg2434Trp)
|
rs1234060098
|
0.00001
|
NM_001142800.2(EYS):c.7301G>A (p.Arg2434Gln)
|
rs1316019179
|
0.00001
|
NM_001142800.2(EYS):c.7347G>A (p.Gln2449=)
|
rs1770906194
|
0.00001
|
NM_001142800.2(EYS):c.7348C>T (p.Leu2450=)
|
rs1239568794
|
0.00001
|
NM_001142800.2(EYS):c.7356C>A (p.Asn2452Lys)
|
rs566843175
|
0.00001
|
NM_001142800.2(EYS):c.7378A>G (p.Asn2460Asp)
|
rs1358455064
|
0.00001
|
NM_001142800.2(EYS):c.7405G>A (p.Gly2469Ser)
|
rs1326140178
|
0.00001
|
NM_001142800.2(EYS):c.7443C>T (p.Gly2481=)
|
rs1044722026
|
0.00001
|
NM_001142800.2(EYS):c.7446G>C (p.Leu2482=)
|
rs1562026948
|
0.00001
|
NM_001142800.2(EYS):c.7446G>T (p.Leu2482=)
|
rs1562026948
|
0.00001
|
NM_001142800.2(EYS):c.7471T>G (p.Tyr2491Asp)
|
rs1306301546
|
0.00001
|
NM_001142800.2(EYS):c.7557C>T (p.Phe2519=)
|
rs1237883344
|
0.00001
|
NM_001142800.2(EYS):c.7558T>C (p.Phe2520Leu)
|
rs527486914
|
0.00001
|
NM_001142800.2(EYS):c.7578+1G>A
|
rs1228475082
|
0.00001
|
NM_001142800.2(EYS):c.7591A>G (p.Lys2531Glu)
|
rs1037212478
|
0.00001
|
NM_001142800.2(EYS):c.7635T>C (p.Asn2545=)
|
rs1161244901
|
0.00001
|
NM_001142800.2(EYS):c.7654del (p.Tyr2551_Val2552insTer)
|
rs1064796020
|
0.00001
|
NM_001142800.2(EYS):c.76C>T (p.Arg26Trp)
|
rs764308269
|
0.00001
|
NM_001142800.2(EYS):c.7713T>C (p.Asn2571=)
|
rs1266571823
|
0.00001
|
NM_001142800.2(EYS):c.7721A>C (p.Gln2574Pro)
|
rs1353713143
|
0.00001
|
NM_001142800.2(EYS):c.7723+6G>A
|
rs773926989
|
0.00001
|
NM_001142800.2(EYS):c.7724-15T>C
|
rs773142562
|
0.00001
|
NM_001142800.2(EYS):c.7761T>C (p.Asp2587=)
|
rs1372433925
|
0.00001
|
NM_001142800.2(EYS):c.7785T>C (p.Asn2595=)
|
rs1029639574
|
0.00001
|
NM_001142800.2(EYS):c.7803T>C (p.Asn2601=)
|
rs1342639553
|
0.00001
|
NM_001142800.2(EYS):c.7822C>T (p.Gln2608Ter)
|
rs1770111064
|
0.00001
|
NM_001142800.2(EYS):c.7842C>A (p.Cys2614Ter)
|
rs374494800
|
0.00001
|
NM_001142800.2(EYS):c.7851G>T (p.Met2617Ile)
|
rs1012336027
|
0.00001
|
NM_001142800.2(EYS):c.7861A>G (p.Asn2621Asp)
|
rs1193588140
|
0.00001
|
NM_001142800.2(EYS):c.7868G>A (p.Gly2623Glu)
|
rs559824825
|
0.00001
|
NM_001142800.2(EYS):c.7873T>C (p.Cys2625Arg)
|
rs751128329
|
0.00001
|
NM_001142800.2(EYS):c.7899-5C>T
|
rs1218048550
|
0.00001
|
NM_001142800.2(EYS):c.7899C>A (p.Tyr2633Ter)
|
rs1197863938
|
0.00001
|
NM_001142800.2(EYS):c.78G>A (p.Arg26=)
|
rs1766217092
|
0.00001
|
NM_001142800.2(EYS):c.7917G>C (p.Gly2639=)
|
rs1042688038
|
0.00001
|
NM_001142800.2(EYS):c.7919G>A (p.Trp2640Ter)
|
rs527236066
|
0.00001
|
NM_001142800.2(EYS):c.7943del (p.Thr2648fs)
|
rs1477705832
|
0.00001
|
NM_001142800.2(EYS):c.7944A>G (p.Thr2648=)
|
rs1406515203
|
0.00001
|
NM_001142800.2(EYS):c.7950T>A (p.Ser2650=)
|
rs1293658324
|
0.00001
|
NM_001142800.2(EYS):c.7970del (p.Asp2657fs)
|
rs1477098845
|
0.00001
|
NM_001142800.2(EYS):c.7990A>C (p.Arg2664=)
|
rs1342358367
|
0.00001
|
NM_001142800.2(EYS):c.7995A>T (p.Gly2665=)
|
rs1217814272
|
0.00001
|
NM_001142800.2(EYS):c.7998A>G (p.Ala2666=)
|
rs1276184135
|
0.00001
|
NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter)
|
rs527236076
|
0.00001
|
NM_001142800.2(EYS):c.8031T>C (p.Cys2677=)
|
rs1306499925
|
0.00001
|
NM_001142800.2(EYS):c.8038C>A (p.Pro2680Thr)
|
rs757929455
|
0.00001
|
NM_001142800.2(EYS):c.8081T>G (p.Ile2694Arg)
|
rs954331122
|
0.00001
|
NM_001142800.2(EYS):c.8088T>A (p.Asp2696Glu)
|
rs780632755
|
0.00001
|
NM_001142800.2(EYS):c.8120T>G (p.Met2707Arg)
|
rs757841530
|
0.00001
|
NM_001142800.2(EYS):c.812G>A (p.Ser271Asn)
|
rs1390616909
|
0.00001
|
NM_001142800.2(EYS):c.8143C>T (p.Arg2715Ter)
|
rs1299355731
|
0.00001
|
NM_001142800.2(EYS):c.8151G>A (p.Lys2717=)
|
rs983603381
|
0.00001
|
NM_001142800.2(EYS):c.8157T>C (p.His2719=)
|
rs1419791498
|
0.00001
|
NM_001142800.2(EYS):c.8168del (p.Gln2723fs)
|
rs1168101857
|
0.00001
|
NM_001142800.2(EYS):c.8205T>C (p.Tyr2735=)
|
rs1768623410
|
0.00001
|
NM_001142800.2(EYS):c.8206G>C (p.Ala2736Pro)
|
rs1250317776
|
0.00001
|
NM_001142800.2(EYS):c.8233+17G>A
|
rs1301705188
|
0.00001
|
NM_001142800.2(EYS):c.8233+8T>G
|
rs886061666
|
0.00001
|
NM_001142800.2(EYS):c.832T>C (p.Phe278Leu)
|
rs773704807
|
0.00001
|
NM_001142800.2(EYS):c.840T>C (p.Cys280=)
|
rs777220640
|
0.00001
|
NM_001142800.2(EYS):c.849T>G (p.Asp283Glu)
|
rs747084936
|
0.00001
|
NM_001142800.2(EYS):c.853C>A (p.Gln285Lys)
|
rs988163418
|
0.00001
|
NM_001142800.2(EYS):c.862+1G>T
|
rs926930860
|
0.00001
|
NM_001142800.2(EYS):c.867A>G (p.Pro289=)
|
rs746039939
|
0.00001
|
NM_001142800.2(EYS):c.889C>T (p.Pro297Ser)
|
rs780788241
|
0.00001
|
NM_001142800.2(EYS):c.937A>C (p.Ser313Arg)
|
rs759580570
|
0.00001
|
NM_001142800.2(EYS):c.939T>G (p.Ser313Arg)
|
rs774342993
|
0.00001
|
NM_001142800.2(EYS):c.951T>C (p.Thr317=)
|
rs993944802
|
0.00001
|
NM_001142800.2(EYS):c.954T>C (p.Tyr318=)
|
rs769722435
|
0.00001
|
NM_001142800.2(EYS):c.961C>T (p.Pro321Ser)
|
rs748052858
|
0.00001
|
NM_001142800.2(EYS):c.969A>G (p.Gly323=)
|
rs1357308843
|
0.00001
|
NM_001142800.2(EYS):c.96G>A (p.Trp32Ter)
|
rs1388177618
|
0.00001
|
NC_000006.11:g.(?_64430492)_(64431713_?)del
|
|
|
NC_000006.11:g.(?_64430492)_(64436593_?)dup
|
|
|
NC_000006.11:g.(?_64430660)_(64432714_?)del
|
|
|
NC_000006.11:g.(?_64451796)_(64574261_?)del
|
|
|
NC_000006.11:g.(?_64472344)_(64472536_?)dup
|
|
|
NC_000006.11:g.(?_64472344)_(64574261_?)del
|
|
|
NC_000006.11:g.(?_64487889)_(64488083_?)del
|
|
|
NC_000006.11:g.(?_64574059)_(65655827_?)dup
|
|
|
NC_000006.11:g.(?_64574069)_(64574261_?)del
|
|
|
NC_000006.11:g.(?_64574069)_(65016985_?)dup
|
|
|
NC_000006.11:g.(?_64694256)_(64694516_?)del
|
|
|
NC_000006.11:g.(?_64694256)_(64791915_?)dup
|
|
|
NC_000006.11:g.(?_64694256)_(65016995_?)del
|
|
|
NC_000006.11:g.(?_64694266)_(64694506_?)dup
|
|
|
NC_000006.11:g.(?_64694266)_(64791905_?)del
|
|
|
NC_000006.11:g.(?_64694266)_(65149255_?)dup
|
|
|
NC_000006.11:g.(?_64708958)_(64709086_?)del
|
|
|
NC_000006.11:g.(?_64776211)_(64791915_?)del
|
|
|
NC_000006.11:g.(?_64776221)_(64791905_?)dup
|
|
|
NC_000006.11:g.(?_64791729)_(64791915_?)dup
|
|
|
NC_000006.11:g.(?_64791739)_(64791905_?)del
|
|
|
NC_000006.11:g.(?_64791739)_(64940727_?)del
|
|
|
NC_000006.11:g.(?_64940465)_(65622656_?)dup
|
|
|
NC_000006.11:g.(?_64940465)_(66063530_?)del
|
|
|
NC_000006.11:g.(?_64940475)_(65016985_?)del
|
|
|
NC_000006.11:g.(?_64940475)_(65098743_?)dup
|
|
|
NC_000006.11:g.(?_64940475)_(65336148_?)del
|
|
|
NC_000006.11:g.(?_64940475)_(65336148_?)dup
|
|
|
NC_000006.11:g.(?_64940485)_(65336138_?)del
|
|
|
NC_000006.11:g.(?_65016853)_(65016985_?)dup
|
|
|
NC_000006.11:g.(?_65098563)_(65098753_?)del
|
|
|
NC_000006.11:g.(?_65098563)_(65098753_?)dup
|
|
|
NC_000006.11:g.(?_65098563)_(65336158_?)del
|
|
|
NC_000006.11:g.(?_65098563)_(65767640_?)del
|
|
|
NC_000006.11:g.(?_65098563)_(66417118_?)del
|
|
|
NC_000006.11:g.(?_65098573)_(65098743_?)dup
|
|
|
NC_000006.11:g.(?_65098573)_(65149255_?)del
|
|
|
NC_000006.11:g.(?_65098573)_(65149255_?)dup
|
|
|
NC_000006.11:g.(?_65098583)_(65149245_?)dup
|
|
|
NC_000006.11:g.(?_65146047)_(65336158_?)del
|
|
|
NC_000006.11:g.(?_65146057)_(65149255_?)del
|
|
|
NC_000006.11:g.(?_65149045)_(65336148_?)del
|
|
|
NC_000006.11:g.(?_65300096)_(65327446_?)dup
|
|
|
NC_000006.11:g.(?_65300106)_(65707606_?)del
|
|
|
NC_000006.11:g.(?_65301748)_(65303701_?)del
|
|
|
NC_000006.11:g.(?_65327291)_(65336158_?)dup
|
|
|
NC_000006.11:g.(?_65327301)_(65336148_?)del
|
|
|
NC_000006.11:g.(?_65336004)_(65336148_?)dup
|
|
|
NC_000006.11:g.(?_65523251)_(65532735_?)dup
|
|
|
NC_000006.11:g.(?_65523251)_(65612413_?)del
|
|
|
NC_000006.11:g.(?_65523251)_(65622656_?)del
|
|
|
NC_000006.11:g.(?_65523251)_(65707616_?)dup
|
|
|
NC_000006.11:g.(?_65523251)_(65767640_?)del
|
|
|
NC_000006.11:g.(?_65523261)_(65532725_?)del
|
|
|
NC_000006.11:g.(?_65523261)_(65655817_?)del
|
|
|
NC_000006.11:g.(?_65523280)_(65525433_?)del
|
|
|
NC_000006.11:g.(?_65531528)_(65622646_?)del
|
|
|
NC_000006.11:g.(?_65531528)_(66205758_?)del
|
|
|
NC_000006.11:g.(?_65596570)_(65622656_?)del
|
|
|
NC_000006.11:g.(?_65596580)_(65596745_?)del
|
|
|
NC_000006.11:g.(?_65611986)_(65622656_?)dup
|
|
|
NC_000006.11:g.(?_65611986)_(65767640_?)del
|
|
|
NC_000006.11:g.(?_65611996)_(65655817_?)dup
|
|
|
NC_000006.11:g.(?_65622357)_(65622656_?)del
|
|
|
NC_000006.11:g.(?_65622367)_(65655817_?)dup
|
|
|
NC_000006.11:g.(?_65622367)_(65767630_?)del
|
|
|
NC_000006.11:g.(?_65622367)_(66115270_?)del
|
|
|
NC_000006.11:g.(?_65622377)_(65655807_?)del
|
|
|
NC_000006.11:g.(?_65655666)_(65767640_?)dup
|
|
|
NC_000006.11:g.(?_65655676)_(65707606_?)del
|
|
|
NC_000006.11:g.(?_65655686)_(65655807_?)del
|
|
|
NC_000006.11:g.(?_65707455)_(65707616_?)dup
|
|
|
NC_000006.11:g.(?_65707455)_(65767640_?)del
|
|
|
NC_000006.11:g.(?_65707465)_(65767630_?)dup
|
|
|
NC_000006.11:g.(?_65707475)_(65707596_?)dup
|
|
|
NC_000006.11:g.(?_65767487)_(65767640_?)del
|
|
|
NC_000006.11:g.(?_65767487)_(65767640_?)dup
|
|
|
NC_000006.11:g.(?_66005736)_(66006032_?)del
|
|
|
NC_000006.11:g.(?_66005736)_(66094413_?)dup
|
|
|
NC_000006.11:g.(?_66005746)_(66042320_?)del
|
|
|
NC_000006.11:g.(?_66005746)_(66063520_?)dup
|
|
|
NC_000006.11:g.(?_66005746)_(66115270_?)del
|
|
|
NC_000006.11:g.(?_66005746)_(66417039_?)del
|
|
|
NC_000006.11:g.(?_66042207)_(66045049_?)dup
|
|
|
NC_000006.11:g.(?_66042207)_(66063520_?)del
|
|
|
NC_000006.11:g.(?_66044853)_(66115280_?)del
|
|
|
NC_000006.11:g.(?_66053911)_(66054090_?)del
|
|
|
NC_000006.11:g.(?_66053931)_(66054070_?)del
|
|
|
NC_000006.11:g.(?_66094259)_(66112518_?)del
|
|
|
NC_000006.11:g.(?_66094259)_(66205886_?)dup
|
|
|
NC_000006.11:g.(?_66094259)_(66417118_?)del
|
|
|
NC_000006.11:g.(?_66094269)_(66094403_?)dup
|
|
|
NC_000006.11:g.(?_66094269)_(66205758_?)del
|
|
|
NC_000006.11:g.(?_66112351)_(66112518_?)del
|
|
|
NC_000006.11:g.(?_66112351)_(66115280_?)dup
|
|
|
NC_000006.11:g.(?_66112351)_(66205886_?)del
|
|
|
NC_000006.11:g.(?_66112361)_(66115270_?)del
|
|
|
NC_000006.11:g.(?_66112361)_(66115270_?)dup
|
|
|
NC_000006.11:g.(?_66200467)_(66205886_?)dup
|
|
|
NC_000006.11:g.(?_66200477)_(66417039_?)del
|
|
|
NC_000006.11:g.(?_66200487)_(66205303_?)del
|
|
|
NC_000006.11:g.(?_66204536)_(66205886_?)del
|
|
|
NC_000006.11:g.(?_66204536)_(66205886_?)dup
|
|
|
NC_000006.11:g.(?_66349671)_(66349785_?)del
|
|
|
NC_000006.11:g.(?_66417023)_(66417118_?)del
|
|
|
NC_000006.11:g.(?_66417023)_(66417118_?)dup
|
|
|
NC_000006.12:g.(?_63864176)_(63999193_?)del
|
|
|
NC_000006.12:g.(?_64066328)_(64082012_?)del
|
|
|
NC_000006.12:g.(?_64066338)_(64082002_?)del
|
|
|
NC_000006.12:g.(?_64066338)_(64626245_?)del
|
|
|
NC_000006.12:g.(?_64230582)_(64230834_?)dup
|
|
|
NC_000006.12:g.(?_64230592)_(64230824_?)del
|
|
|
NC_000006.12:g.(?_64436164)_(65495865_?)del
|
|
|
NC_000006.12:g.(?_64590213)_(64626255_?)del
|
|
|
NC_000006.12:g.(?_64617408)_(64617543_?)del
|
|
|
NC_000006.12:g.(?_64813368)_(64822832_?)dup
|
|
|
NC_000006.12:g.(?_64813368)_(65057737_?)del
|
|
|
NC_000006.12:g.(?_64813368)_(65057737_?)dup
|
|
|
NC_000006.12:g.(?_64813378)_(64945914_?)del
|
|
|
NC_000006.12:g.(?_64813378)_(65057727_?)del
|
|
|
NC_000006.12:g.(?_64886697)_(64945914_?)del
|
|
|
NC_000006.12:g.(?_64886697)_(65057727_?)del
|
|
|
NC_000006.12:g.(?_64902103)_(64902510_?)del
|
|
|
NC_000006.12:g.(?_64902103)_(64945924_?)del
|
|
|
NC_000006.12:g.(?_64902113)_(64945914_?)del
|
|
|
NC_000006.12:g.(?_64902113)_(65495410_?)del
|
|
|
NC_000006.12:g.(?_64912474)_(64912753_?)del
|
|
|
NC_000006.12:g.(?_64945783)_(64945924_?)del
|
|
|
NC_000006.12:g.(?_64945793)_(64997703_?)del
|
|
|
NC_000006.12:g.(?_64997572)_(64997713_?)dup
|
|
|
NC_000006.12:g.(?_64997572)_(65057737_?)del
|
|
|
NC_000006.12:g.(?_64997572)_(65495865_?)del
|
|
|
NC_000006.12:g.(?_64997582)_(64997703_?)del
|
|
|
NC_000006.12:g.(?_64997582)_(65057727_?)del
|
|
|
NC_000006.12:g.(?_65295853)_(65296129_?)dup
|
|
|
NC_000006.12:g.(?_65295853)_(65335156_?)del
|
|
|
NC_000006.12:g.(?_65295853)_(65384510_?)del
|
|
|
NC_000006.12:g.(?_65295863)_(65304939_?)del
|
|
|
NC_000006.12:g.(?_65332314)_(65335156_?)del
|
|
|
NC_000006.12:g.(?_65332314)_(65353627_?)dup
|
|
|
NC_000006.12:g.(?_65384376)_(65384510_?)del
|
|
|
NC_000006.12:g.(?_65384386)_(65405367_?)dup
|
|
|
NC_000006.12:g.(?_65384386)_(65495410_?)del
|
|
|
NC_000006.12:g.(?_65384386)_(65495410_?)dup
|
|
|
NC_000006.12:g.(?_65402468)_(65495865_?)del
|
|
|
NC_000006.12:g.(?_65490594)_(65495410_?)dup
|
|
|
NC_000006.12:g.65490708del
|
rs762794153
|
|
NM_001142800.2(EYS):c.-111C>T
|
|
|
NM_001142800.2(EYS):c.-135T>G
|
|
|
NM_001142800.2(EYS):c.-148A>C
|
rs532884833
|
|
NM_001142800.2(EYS):c.-156A>G
|
rs1766228932
|
|
NM_001142800.2(EYS):c.-168C>G
|
|
|
NM_001142800.2(EYS):c.-176T>C
|
|
|
NM_001142800.2(EYS):c.-189ACA[1]
|
rs2127272237
|
|
NM_001142800.2(EYS):c.-198A>G
|
|
|
NM_001142800.2(EYS):c.-201del
|
|
|
NM_001142800.2(EYS):c.-211CA[1]
|
rs2127272498
|
|
NM_001142800.2(EYS):c.-219A>G
|
|
|
NM_001142800.2(EYS):c.-252G>T
|
|
|
NM_001142800.2(EYS):c.-253T>A
|
rs1285063212
|
|
NM_001142800.2(EYS):c.-262T>A
|
|
|
NM_001142800.2(EYS):c.-269A>G
|
|
|
NM_001142800.2(EYS):c.-270T>G
|
|
|
NM_001142800.2(EYS):c.-271del
|
|
|
NM_001142800.2(EYS):c.-273C>G
|
rs1766240592
|
|
NM_001142800.2(EYS):c.-27T>A
|
rs769133109
|
|
NM_001142800.2(EYS):c.-285A>C
|
|
|
NM_001142800.2(EYS):c.-291C>A
|
rs1766241156
|
|
NM_001142800.2(EYS):c.-299T>C
|
rs541087846
|
|
NM_001142800.2(EYS):c.-320A>C
|
rs969388354
|
|
NM_001142800.2(EYS):c.-337T>C
|
|
|
NM_001142800.2(EYS):c.-342T>C
|
rs557146196
|
|
NM_001142800.2(EYS):c.-347A>C
|
|
|
NM_001142800.2(EYS):c.-350G>A
|
rs886061687
|
|
NM_001142800.2(EYS):c.-350G>T
|
rs886061687
|
|
NM_001142800.2(EYS):c.-401C>A
|
rs1767218301
|
|
NM_001142800.2(EYS):c.-404G>T
|
|
|
NM_001142800.2(EYS):c.-407C>G
|
rs137924872
|
|
NM_001142800.2(EYS):c.-407C>T
|
rs137924872
|
|
NM_001142800.2(EYS):c.-424del
|
|
|
NM_001142800.2(EYS):c.-430_-428del
|
rs2149812938
|
|
NM_001142800.2(EYS):c.-432T>G
|
rs2149812941
|
|
NM_001142800.2(EYS):c.-437C>T
|
rs1767219359
|
|
NM_001142800.2(EYS):c.-441G>T
|
|
|
NM_001142800.2(EYS):c.-447C>T
|
|
|
NM_001142800.2(EYS):c.-450G>C
|
rs2149856985
|
|
NM_001142800.2(EYS):c.-453G>T
|
rs1769909552
|
|
NM_001142800.2(EYS):c.-460G>T
|
|
|
NM_001142800.2(EYS):c.-490A>G
|
|
|
NM_001142800.2(EYS):c.-497C>T
|
rs184368442
|
|
NM_001142800.2(EYS):c.-503A>G
|
rs1769911484
|
|
NM_001142800.2(EYS):c.-532A>C
|
rs1769913208
|
|
NM_001142800.2(EYS):c.-67G>A
|
|
|
NM_001142800.2(EYS):c.-82T>C
|
rs1766226162
|
|
NM_001142800.2(EYS):c.-90_-85del
|
|
|
NM_001142800.2(EYS):c.1016T>C (p.Val339Ala)
|
|
|
NM_001142800.2(EYS):c.1017A>C (p.Val339=)
|
rs1265382931
|
|
NM_001142800.2(EYS):c.1017A>G (p.Val339=)
|
rs1265382931
|
|
NM_001142800.2(EYS):c.1018C>T (p.Pro340Ser)
|
rs1766677062
|
|
NM_001142800.2(EYS):c.1020A>G (p.Pro340=)
|
rs774480980
|
|
NM_001142800.2(EYS):c.1029T>C (p.Asn343=)
|
rs531020329
|
|
NM_001142800.2(EYS):c.102A>G (p.Pro34=)
|
|
|
NM_001142800.2(EYS):c.1030G>C (p.Gly344Arg)
|
|
|
NM_001142800.2(EYS):c.1035T>C (p.Thr345=)
|
|
|
NM_001142800.2(EYS):c.1038C>T (p.Asp346=)
|
|
|
NM_001142800.2(EYS):c.103C>T (p.Gln35Ter)
|
rs749410700
|
|
NM_001142800.2(EYS):c.1050A>T (p.Ile350=)
|
rs373412160
|
|
NM_001142800.2(EYS):c.1052C>A (p.Ser351Ter)
|
|
|
NM_001142800.2(EYS):c.1055A>C (p.Asn352Thr)
|
|
|
NM_001142800.2(EYS):c.1056+13C>A
|
|
|
NM_001142800.2(EYS):c.1056+13C>T
|
|
|
NM_001142800.2(EYS):c.1056+17C>T
|
|
|
NM_001142800.2(EYS):c.1056+2T>C
|
rs2150365452
|
|
NM_001142800.2(EYS):c.1056+8T>C
|
|
|
NM_001142800.2(EYS):c.1057-13T>C
|
|
|
NM_001142800.2(EYS):c.1057-13del
|
rs753320968
|
|
NM_001142800.2(EYS):c.1057-18T>G
|
|
|
NM_001142800.2(EYS):c.1057-19dup
|
rs753320968
|
|
NM_001142800.2(EYS):c.1057-20A>C
|
|
|
NM_001142800.2(EYS):c.1057-20A>G
|
|
|
NM_001142800.2(EYS):c.1057-20del
|
|
|
NM_001142800.2(EYS):c.1057-2del
|
|
|
NM_001142800.2(EYS):c.105del (p.Gln35fs)
|
rs1175908615
|
|
NM_001142800.2(EYS):c.1066T>G (p.Cys356Gly)
|
rs2150363870
|
|
NM_001142800.2(EYS):c.1068C>A (p.Cys356Ter)
|
rs1766556883
|
|
NM_001142800.2(EYS):c.1068dup (p.Ile357fs)
|
|
|
NM_001142800.2(EYS):c.1069A>C (p.Ile357Leu)
|
rs1391157136
|
|
NM_001142800.2(EYS):c.1070T>G (p.Ile357Ser)
|
rs1766556502
|
|
NM_001142800.2(EYS):c.1078C>T (p.Pro360Ser)
|
|
|
NM_001142800.2(EYS):c.1080A>C (p.Pro360=)
|
|
|
NM_001142800.2(EYS):c.1081A>G (p.Ile361Val)
|
|
|
NM_001142800.2(EYS):c.1083_1108del (p.Phe362fs)
|
|
|
NM_001142800.2(EYS):c.1086T>C (p.Phe362=)
|
rs1766555738
|
|
NM_001142800.2(EYS):c.108C>A (p.Pro36=)
|
rs1014843963
|
|
NM_001142800.2(EYS):c.108C>T (p.Pro36=)
|
|
|
NM_001142800.2(EYS):c.1093T>C (p.Leu365=)
|
|
|
NM_001142800.2(EYS):c.10A>T (p.Lys4Ter)
|
|
|
NM_001142800.2(EYS):c.1110T>C (p.Ile370=)
|
rs752062916
|
|
NM_001142800.2(EYS):c.1112A>T (p.Gln371Leu)
|
|
|
NM_001142800.2(EYS):c.1113A>G (p.Gln371=)
|
|
|
NM_001142800.2(EYS):c.1116A>T (p.Thr372=)
|
rs1255173204
|
|
NM_001142800.2(EYS):c.1117T>C (p.Ser373Pro)
|
|
|
NM_001142800.2(EYS):c.1120T>C (p.Cys374Arg)
|
|
|
NM_001142800.2(EYS):c.1126T>A (p.Ser376Thr)
|
rs2150363809
|
|
NM_001142800.2(EYS):c.1129T>C (p.Phe377Leu)
|
|
|
NM_001142800.2(EYS):c.1134T>C (p.Pro378=)
|
rs2150363805
|
|
NM_001142800.2(EYS):c.113C>G (p.Ser38Ter)
|
|
|
NM_001142800.2(EYS):c.1145A>G (p.Asn382Ser)
|
rs144935927
|
|
NM_001142800.2(EYS):c.1146_1147inv (p.Ala383Thr)
|
|
|
NM_001142800.2(EYS):c.114A>G (p.Ser38=)
|
|
|
NM_001142800.2(EYS):c.1152A>G (p.Thr384=)
|
rs2150363776
|
|
NM_001142800.2(EYS):c.1164T>C (p.Cys388=)
|
|
|
NM_001142800.2(EYS):c.1170A>G (p.Lys390=)
|
rs2150363751
|
|
NM_001142800.2(EYS):c.1179T>C (p.Pro393=)
|
rs2150363736
|
|
NM_001142800.2(EYS):c.1182C>A (p.Cys394Ter)
|
|
|
NM_001142800.2(EYS):c.1184+17G>C
|
|
|
NM_001142800.2(EYS):c.1184+18T>C
|
|
|
NM_001142800.2(EYS):c.1184+1G>A
|
rs2150363733
|
|
NM_001142800.2(EYS):c.1184+2T>C
|
|
|
NM_001142800.2(EYS):c.1184+8T>A
|
|
|
NM_001142800.2(EYS):c.1185-10G>A
|
rs1562140886
|
|
NM_001142800.2(EYS):c.1185-13G>T
|
|
|
NM_001142800.2(EYS):c.1185-15C>T
|
|
|
NM_001142800.2(EYS):c.1185-18A>G
|
|
|
NM_001142800.2(EYS):c.1185-3C>T
|
rs1562140876
|
|
NM_001142800.2(EYS):c.1185-5T>C
|
|
|
NM_001142800.2(EYS):c.1185-6T>G
|
rs565046666
|
|
NM_001142800.2(EYS):c.1188T>C (p.Cys396=)
|
rs2150351983
|
|
NM_001142800.2(EYS):c.1189A>G (p.Ile397Val)
|
rs1365596246
|
|
NM_001142800.2(EYS):c.1193C>G (p.Ser398Ter)
|
rs866804139
|
|
NM_001142800.2(EYS):c.1194A>C (p.Ser398=)
|
|
|
NM_001142800.2(EYS):c.1206A>G (p.Glu402=)
|
|
|
NM_001142800.2(EYS):c.120G>A (p.Val40=)
|
|
|
NM_001142800.2(EYS):c.1211del (p.Asn404fs)
|
rs764163418
|
|
NM_001142800.2(EYS):c.1211dup (p.Asn404fs)
|
rs764163418
|
|
NM_001142800.2(EYS):c.1224A>G (p.Ala408=)
|
rs2150351931
|
|
NM_001142800.2(EYS):c.1234del (p.Cys412fs)
|
rs1765726534
|
|
NM_001142800.2(EYS):c.1236T>C (p.Cys412=)
|
rs2150351909
|
|
NM_001142800.2(EYS):c.123A>G (p.Val41=)
|
rs1370120169
|
|
NM_001142800.2(EYS):c.1252A>C (p.Asn418His)
|
rs369388425
|
|
NM_001142800.2(EYS):c.1258C>T (p.Leu420=)
|
|
|
NM_001142800.2(EYS):c.1262A>G (p.Asn421Ser)
|
|
|
NM_001142800.2(EYS):c.1269A>G (p.Glu423=)
|
rs1264886780
|
|
NM_001142800.2(EYS):c.126T>C (p.Asn42=)
|
rs781187059
|
|
NM_001142800.2(EYS):c.1272G>A (p.Trp424Ter)
|
|
|
NM_001142800.2(EYS):c.1272dup (p.Cys425fs)
|
rs2150351865
|
|
NM_001142800.2(EYS):c.1275T>C (p.Cys425=)
|
rs778123173
|
|
NM_001142800.2(EYS):c.1293A>G (p.Arg431=)
|
|
|
NM_001142800.2(EYS):c.1298A>C (p.Lys433Thr)
|
rs1361667383
|
|
NM_001142800.2(EYS):c.1299+11T>A
|
|
|
NM_001142800.2(EYS):c.1299+16C>T
|
rs2150351815
|
|
NM_001142800.2(EYS):c.1299+17A>G
|
|
|
NM_001142800.2(EYS):c.1299+19G>C
|
|
|
NM_001142800.2(EYS):c.1299+1G>T
|
rs199830721
|
|
NM_001142800.2(EYS):c.1299+2T>A
|
rs2150351826
|
|
NM_001142800.2(EYS):c.1299+5_1299+8del
|
rs1562140604
|
|
NM_001142800.2(EYS):c.12A>G (p.Lys4=)
|
rs2127272013
|
|
NM_001142800.2(EYS):c.1300-10C>G
|
|
|
NM_001142800.2(EYS):c.1300-10C>T
|
|
|
NM_001142800.2(EYS):c.1300-19C>T
|
|
|
NM_001142800.2(EYS):c.1300-1G>A
|
|
|
NM_001142800.2(EYS):c.1300-20dup
|
|
|
NM_001142800.2(EYS):c.1300-3_1300-2delinsTT
|
rs2150327364
|
|
NM_001142800.2(EYS):c.1300T>C (p.Tyr434His)
|
rs1764369029
|
|
NM_001142800.2(EYS):c.1300dup (p.Tyr434fs)
|
|
|
NM_001142800.2(EYS):c.1302T>C (p.Tyr434=)
|
|
|
NM_001142800.2(EYS):c.1303G>C (p.Val435Leu)
|
rs748235223
|
|
NM_001142800.2(EYS):c.1305A>G (p.Val435=)
|
rs2150327346
|
|
NM_001142800.2(EYS):c.1307_1310del (p.Cys436fs)
|
|
|
NM_001142800.2(EYS):c.1310T>A (p.Ile437Asn)
|
rs912121912
|
|
NM_001142800.2(EYS):c.1322C>G (p.Thr441Arg)
|
rs747237723
|
|
NM_001142800.2(EYS):c.1323A>G (p.Thr441=)
|
|
|
NM_001142800.2(EYS):c.1323A>T (p.Thr441=)
|
|
|
NM_001142800.2(EYS):c.1325A>T (p.Lys442Ile)
|
rs758215773
|
|
NM_001142800.2(EYS):c.1328dup (p.Asn443fs)
|
rs1582176424
|
|
NM_001142800.2(EYS):c.1329T>C (p.Asn443=)
|
rs1562116791
|
|
NM_001142800.2(EYS):c.1330C>T (p.Pro444Ser)
|
rs1764367580
|
|
NM_001142800.2(EYS):c.1335T>A (p.Cys445Ter)
|
|
|
NM_001142800.2(EYS):c.1335T>C (p.Cys445=)
|
rs2150327300
|
|
NM_001142800.2(EYS):c.133C>T (p.Leu45=)
|
rs45611538
|
|
NM_001142800.2(EYS):c.1344G>A (p.Leu448=)
|
rs2150327287
|
|
NM_001142800.2(EYS):c.1353T>C (p.Val451=)
|
|
|
NM_001142800.2(EYS):c.1354del (p.Tyr452fs)
|
|
|
NM_001142800.2(EYS):c.1356C>G (p.Tyr452Ter)
|
|
|
NM_001142800.2(EYS):c.1356C>T (p.Tyr452=)
|
rs1453136762
|
|
NM_001142800.2(EYS):c.1358_1359del (p.Leu453fs)
|
rs1450999049
|
|
NM_001142800.2(EYS):c.1359A>C (p.Leu453=)
|
|
|
NM_001142800.2(EYS):c.1377C>T (p.Cys459=)
|
|
|
NM_001142800.2(EYS):c.1380C>T (p.Tyr460=)
|
rs2150327246
|
|
NM_001142800.2(EYS):c.1387_1388insA (p.Val463fs)
|
rs2150327232
|
|
NM_001142800.2(EYS):c.138A>C (p.Thr46=)
|
rs983501587
|
|
NM_001142800.2(EYS):c.138A>G (p.Thr46=)
|
|
|
NM_001142800.2(EYS):c.1392C>T (p.Thr464=)
|
|
|
NM_001142800.2(EYS):c.1395C>T (p.Phe465=)
|
|
|
NM_001142800.2(EYS):c.1397A>T (p.His466Leu)
|
|
|
NM_001142800.2(EYS):c.1398T>C (p.His466=)
|
rs770319684
|
|
NM_001142800.2(EYS):c.1400del (p.Gly467fs)
|
rs770403975
|
|
NM_001142800.2(EYS):c.1404T>C (p.Ile468=)
|
|
|
NM_001142800.2(EYS):c.1407C>T (p.Cys469=)
|
|
|
NM_001142800.2(EYS):c.1417G>T (p.Gly473Cys)
|
|
|
NM_001142800.2(EYS):c.1418G>T (p.Gly473Val)
|
rs540611114
|
|
NM_001142800.2(EYS):c.1422T>C (p.Pro474=)
|
rs2150327186
|
|
NM_001142800.2(EYS):c.1426C>T (p.Gln476Ter)
|
rs1345460401
|
|
NM_001142800.2(EYS):c.1428A>G (p.Gln476=)
|
|
|
NM_001142800.2(EYS):c.1429T>C (p.Phe477Leu)
|
|
|
NM_001142800.2(EYS):c.1432G>A (p.Glu478Lys)
|
rs1403117224
|
|
NM_001142800.2(EYS):c.1437T>C (p.Tyr479=)
|
|
|
NM_001142800.2(EYS):c.1442G>A (p.Trp481Ter)
|
|
|
NM_001142800.2(EYS):c.1443G>A (p.Trp481Ter)
|
|
|
NM_001142800.2(EYS):c.1449G>A (p.Leu483=)
|
|
|
NM_001142800.2(EYS):c.1459+11T>C
|
|
|
NM_001142800.2(EYS):c.1459+12A>G
|
|
|
NM_001142800.2(EYS):c.1459+18T>C
|
|
|
NM_001142800.2(EYS):c.1459+4A>G
|
|
|
NM_001142800.2(EYS):c.1459+7A>G
|
rs755713237
|
|
NM_001142800.2(EYS):c.1460-10T>G
|
rs1770309588
|
|
NM_001142800.2(EYS):c.1460-12T>C
|
|
|
NM_001142800.2(EYS):c.1460-12T>G
|
rs765588397
|
|
NM_001142800.2(EYS):c.1460-13T>C
|
|
|
NM_001142800.2(EYS):c.1460-16C>G
|
|
|
NM_001142800.2(EYS):c.1460-19T>G
|
|
|
NM_001142800.2(EYS):c.1460-19dup
|
|
|
NM_001142800.2(EYS):c.1460-1G>A
|
|
|
NM_001142800.2(EYS):c.1460-5T>C
|
rs1000894278
|
|
NM_001142800.2(EYS):c.1460-5del
|
rs771064426
|
|
NM_001142800.2(EYS):c.1460-5dup
|
rs771064426
|
|
NM_001142800.2(EYS):c.1460-6_1460-5del
|
rs771064426
|
|
NM_001142800.2(EYS):c.1460-8T>C
|
|
|
NM_001142800.2(EYS):c.1460-9T>G
|
rs1355461460
|
|
NM_001142800.2(EYS):c.1464T>C (p.Ser488=)
|
|
|
NM_001142800.2(EYS):c.146T>C (p.Ile49Thr)
|
rs779640516
|
|
NM_001142800.2(EYS):c.1471G>A (p.Glu491Lys)
|
|
|
NM_001142800.2(EYS):c.1471G>C (p.Glu491Gln)
|
rs151187049
|
|
NM_001142800.2(EYS):c.1472A>C (p.Glu491Ala)
|
rs759752693
|
|
NM_001142800.2(EYS):c.1479C>A (p.Cys493Ter)
|
rs774464019
|
|
NM_001142800.2(EYS):c.147C>T (p.Ile49=)
|
|
|
NM_001142800.2(EYS):c.1480C>T (p.Gln494Ter)
|
rs1207818522
|
|
NM_001142800.2(EYS):c.1486G>A (p.Val496Ile)
|
|
|
NM_001142800.2(EYS):c.1486del (p.Val496fs)
|
rs2150320007
|
|
NM_001142800.2(EYS):c.1492G>A (p.Asp498Asn)
|
|
|
NM_001142800.2(EYS):c.1497C>T (p.Ala499=)
|
rs1300237940
|
|
NM_001142800.2(EYS):c.1500T>C (p.Tyr500=)
|
|
|
NM_001142800.2(EYS):c.1501T>G (p.Phe501Val)
|
|
|
NM_001142800.2(EYS):c.1501_1502del (p.Phe501fs)
|
rs2150319960
|
|
NM_001142800.2(EYS):c.1509G>C (p.Leu503=)
|
|
|
NM_001142800.2(EYS):c.1519T>C (p.Cys507Arg)
|
rs2150319928
|
|
NM_001142800.2(EYS):c.1521C>A (p.Cys507Ter)
|
rs1416709406
|
|
NM_001142800.2(EYS):c.1521C>T (p.Cys507=)
|
|
|
NM_001142800.2(EYS):c.1524T>C (p.Thr508=)
|
rs2150319913
|
|
NM_001142800.2(EYS):c.1530T>C (p.Asp510=)
|
|
|
NM_001142800.2(EYS):c.1536C>T (p.Thr512=)
|
rs2150319907
|
|
NM_001142800.2(EYS):c.1536del (p.Tyr513fs)
|
rs2150319909
|
|
NM_001142800.2(EYS):c.1538A>G (p.Tyr513Cys)
|
|
|
NM_001142800.2(EYS):c.1546G>A (p.Asp516Asn)
|
|
|
NM_001142800.2(EYS):c.1546G>T (p.Asp516Tyr)
|
|
|
NM_001142800.2(EYS):c.1549C>T (p.Pro517Ser)
|
rs763331925
|
|
NM_001142800.2(EYS):c.154G>C (p.Asp52His)
|
|
|
NM_001142800.2(EYS):c.1551T>A (p.Pro517=)
|
|
|
NM_001142800.2(EYS):c.1558AAT[1] (p.Asn521del)
|
rs747069281
|
|
NM_001142800.2(EYS):c.1560T>C (p.Asn520=)
|
rs769726523
|
|
NM_001142800.2(EYS):c.1566T>C (p.Ser522=)
|
rs2150319863
|
|
NM_001142800.2(EYS):c.1569A>T (p.Ser523=)
|
|
|
NM_001142800.2(EYS):c.1575G>A (p.Trp525Ter)
|
|
|
NM_001142800.2(EYS):c.1578C>G (p.Phe526Leu)
|
rs1770300416
|
|
NM_001142800.2(EYS):c.1584dup (p.Glu529Ter)
|
rs1770299906
|
|
NM_001142800.2(EYS):c.1587A>G (p.Glu529=)
|
|
|
NM_001142800.2(EYS):c.1593A>G (p.Thr531=)
|
|
|
NM_001142800.2(EYS):c.1599+12T>G
|
|
|
NM_001142800.2(EYS):c.1599+17T>C
|
|
|
NM_001142800.2(EYS):c.1599+18A>T
|
|
|
NM_001142800.2(EYS):c.1599+1G>T
|
rs2150319815
|
|
NM_001142800.2(EYS):c.1599+2T>A
|
|
|
NM_001142800.2(EYS):c.1599+2T>G
|
|
|
NM_001142800.2(EYS):c.1599+7T>A
|
|
|
NM_001142800.2(EYS):c.1599+9A>C
|
rs1359408400
|
|
NM_001142800.2(EYS):c.159C>T (p.Phe53=)
|
rs1766211185
|
|
NM_001142800.2(EYS):c.1600-15del
|
|
|
NM_001142800.2(EYS):c.1600-17T>G
|
|
|
NM_001142800.2(EYS):c.1600-19A>G
|
rs1769940164
|
|
NM_001142800.2(EYS):c.1600-4A>G
|
rs1582153772
|
|
NM_001142800.2(EYS):c.1600-5T>C
|
rs1425201793
|
|
NM_001142800.2(EYS):c.1600-5T>G
|
|
|
NM_001142800.2(EYS):c.1600-9T>C
|
|
|
NM_001142800.2(EYS):c.1603del (p.Cys535fs)
|
rs2150313808
|
|
NM_001142800.2(EYS):c.1606G>A (p.Ala536Thr)
|
rs2150313803
|
|
NM_001142800.2(EYS):c.160T>A (p.Tyr54Asn)
|
|
|
NM_001142800.2(EYS):c.160T>C (p.Tyr54His)
|
rs1394979892
|
|
NM_001142800.2(EYS):c.1613G>T (p.Gly538Val)
|
rs530200433
|
|
NM_001142800.2(EYS):c.1622G>A (p.Cys541Tyr)
|
|
|
NM_001142800.2(EYS):c.1624T>C (p.Leu542=)
|
|
|
NM_001142800.2(EYS):c.1626G>A (p.Leu542=)
|
rs2150313774
|
|
NM_001142800.2(EYS):c.1632A>G (p.Glu544=)
|
|
|
NM_001142800.2(EYS):c.1637_1640del (p.Asp546fs)
|
rs2150313758
|
|
NM_001142800.2(EYS):c.1639A>G (p.Ser547Gly)
|
rs1769937284
|
|
NM_001142800.2(EYS):c.1641_1644del (p.Ser547fs)
|
rs752504462
|
|
NM_001142800.2(EYS):c.1645G>T (p.Glu549Ter)
|
|
|
NM_001142800.2(EYS):c.1650T>C (p.Tyr550=)
|
|
|
NM_001142800.2(EYS):c.1650T>G (p.Tyr550Ter)
|
rs1769936722
|
|
NM_001142800.2(EYS):c.1651C>T (p.Arg551Trp)
|
|
|
NM_001142800.2(EYS):c.1653G>A (p.Arg551=)
|
|
|
NM_001142800.2(EYS):c.1659A>G (p.Leu553=)
|
|
|
NM_001142800.2(EYS):c.1675G>A (p.Ala559Thr)
|
rs1769934918
|
|
NM_001142800.2(EYS):c.1684A>G (p.Met562Val)
|
rs1769934049
|
|
NM_001142800.2(EYS):c.1689T>C (p.Tyr563=)
|
rs2150313684
|
|
NM_001142800.2(EYS):c.1698T>C (p.Asn566=)
|
rs1156347961
|
|
NM_001142800.2(EYS):c.1700C>T (p.Thr567Ile)
|
|
|
NM_001142800.2(EYS):c.1702A>G (p.Thr568Ala)
|
|
|
NM_001142800.2(EYS):c.1704T>A (p.Thr568=)
|
|
|
NM_001142800.2(EYS):c.1704T>C (p.Thr568=)
|
rs767426811
|
|
NM_001142800.2(EYS):c.1705G>C (p.Asp569His)
|
rs1582153504
|
|
NM_001142800.2(EYS):c.1708_1766+12del
|
|
|
NM_001142800.2(EYS):c.170G>A (p.Cys57Tyr)
|
rs1435232958
|
|
NM_001142800.2(EYS):c.1711_1712delinsAG (p.Gln571Arg)
|
rs2150313643
|
|
NM_001142800.2(EYS):c.1711_1712inv (p.Gln571Ter)
|
|
|
NM_001142800.2(EYS):c.1720G>T (p.Glu574Ter)
|
|
|
NM_001142800.2(EYS):c.1722G>A (p.Glu574=)
|
|
|
NM_001142800.2(EYS):c.1726C>A (p.Gln576Lys)
|
rs1769931367
|
|
NM_001142800.2(EYS):c.1730A>G (p.His577Arg)
|
rs1240852149
|
|
NM_001142800.2(EYS):c.1731T>C (p.His577=)
|
rs1582153415
|
|
NM_001142800.2(EYS):c.173G>A (p.Trp58Ter)
|
rs2127271728
|
|
NM_001142800.2(EYS):c.1742G>A (p.Cys581Tyr)
|
rs2150313605
|
|
NM_001142800.2(EYS):c.1747_1748del (p.Lys582_Asp583insTer)
|
|
|
NM_001142800.2(EYS):c.1750G>A (p.Glu584Lys)
|
rs527236072
|
|
NM_001142800.2(EYS):c.1750G>T (p.Glu584Ter)
|
rs527236072
|
|
NM_001142800.2(EYS):c.1752A>G (p.Glu584=)
|
|
|
NM_001142800.2(EYS):c.175T>G (p.Phe59Val)
|
|
|
NM_001142800.2(EYS):c.1762C>A (p.Pro588Thr)
|
|
|
NM_001142800.2(EYS):c.1766+11A>C
|
|
|
NM_001142800.2(EYS):c.1766+15T>A
|
|
|
NM_001142800.2(EYS):c.1766+19A>C
|
|
|
NM_001142800.2(EYS):c.1766+1G>A
|
|
|
NM_001142800.2(EYS):c.1766+8T>A
|
|
|
NM_001142800.2(EYS):c.1767-7_1767-6del
|
|
|
NM_001142800.2(EYS):c.1767-9G>A
|
|
|
NM_001142800.2(EYS):c.1767-9G>C
|
|
|
NM_001142800.2(EYS):c.1779T>C (p.Ser593=)
|
|
|
NM_001142800.2(EYS):c.1786T>C (p.Tyr596His)
|
rs1409350172
|
|
NM_001142800.2(EYS):c.1789A>G (p.Ile597Val)
|
|
|
NM_001142800.2(EYS):c.1790T>C (p.Ile597Thr)
|
rs1481056736
|
|
NM_001142800.2(EYS):c.1793G>C (p.Gly598Ala)
|
|
|
NM_001142800.2(EYS):c.1793_1800dup (p.Cys601fs)
|
|
|
NM_001142800.2(EYS):c.1794C>A (p.Gly598=)
|
|
|
NM_001142800.2(EYS):c.1794C>T (p.Gly598=)
|
|
|
NM_001142800.2(EYS):c.179T>G (p.Leu60Trp)
|
|
|
NM_001142800.2(EYS):c.179dup (p.Leu60fs)
|
|
|
NM_001142800.2(EYS):c.1800G>T (p.Leu600Phe)
|
rs794727056
|
|
NM_001142800.2(EYS):c.1802_1805del (p.Cys601fs)
|
|
|
NM_001142800.2(EYS):c.1803T>A (p.Cys601Ter)
|
|
|
NM_001142800.2(EYS):c.1809C>G (p.Val603=)
|
|
|
NM_001142800.2(EYS):c.1821T>C (p.Tyr607=)
|
rs768943174
|
|
NM_001142800.2(EYS):c.1824C>T (p.Cys608=)
|
|
|
NM_001142800.2(EYS):c.1824del (p.Cys608_Leu609insTer)
|
|
|
NM_001142800.2(EYS):c.1836C>T (p.His612=)
|
|
|
NM_001142800.2(EYS):c.1838G>A (p.Ser613Asn)
|
|
|
NM_001142800.2(EYS):c.1845del (p.Val616fs)
|
|
|
NM_001142800.2(EYS):c.1856T>A (p.Leu619His)
|
|
|
NM_001142800.2(EYS):c.1857C>T (p.Leu619=)
|
rs2150286339
|
|
NM_001142800.2(EYS):c.1863G>T (p.Leu621=)
|
|
|
NM_001142800.2(EYS):c.1866C>A (p.Ala622=)
|
|
|
NM_001142800.2(EYS):c.1866C>G (p.Ala622=)
|
rs1291613335
|
|
NM_001142800.2(EYS):c.1866C>T (p.Ala622=)
|
rs1291613335
|
|
NM_001142800.2(EYS):c.1872G>T (p.Ser624=)
|
rs148411571
|
|
NM_001142800.2(EYS):c.1875C>T (p.His625=)
|
rs1768653710
|
|
NM_001142800.2(EYS):c.1877A>G (p.Asn626Ser)
|
rs2150286322
|
|
NM_001142800.2(EYS):c.1878T>C (p.Asn626=)
|
|
|
NM_001142800.2(EYS):c.1888A>T (p.Ser630Cys)
|
|
|
NM_001142800.2(EYS):c.1893T>C (p.Gly631=)
|
|
|
NM_001142800.2(EYS):c.1894C>T (p.Leu632=)
|
|
|
NM_001142800.2(EYS):c.189C>T (p.Asn63=)
|
|
|
NM_001142800.2(EYS):c.189_195del (p.Asn63fs)
|
|
|
NM_001142800.2(EYS):c.1902A>G (p.Arg634=)
|
rs1768652347
|
|
NM_001142800.2(EYS):c.1903T>C (p.Tyr635His)
|
rs1386425607
|
|
NM_001142800.2(EYS):c.1905T>C (p.Tyr635=)
|
rs2150286298
|
|
NM_001142800.2(EYS):c.1910_1913del (p.Arg637fs)
|
rs2150286291
|
|
NM_001142800.2(EYS):c.1914C>T (p.Asn638=)
|
|
|
NM_001142800.2(EYS):c.1915A>T (p.Ile639Phe)
|
rs2150286286
|
|
NM_001142800.2(EYS):c.1918T>C (p.Cys640Arg)
|
rs1768651662
|
|
NM_001142800.2(EYS):c.1923G>A (p.Glu641=)
|
|
|
NM_001142800.2(EYS):c.1931C>T (p.Thr644Ile)
|
|
|
NM_001142800.2(EYS):c.1933G>A (p.Glu645Lys)
|
rs2150286271
|
|
NM_001142800.2(EYS):c.1937A>C (p.Asp646Ala)
|
|
|
NM_001142800.2(EYS):c.1937A>G (p.Asp646Gly)
|
|
|
NM_001142800.2(EYS):c.193A>G (p.Lys65Glu)
|
|
|
NM_001142800.2(EYS):c.1943A>G (p.Lys648Arg)
|
|
|
NM_001142800.2(EYS):c.1947T>A (p.Ser649=)
|
rs1582111152
|
|
NM_001142800.2(EYS):c.1948G>A (p.Ala650Thr)
|
|
|
NM_001142800.2(EYS):c.1949C>T (p.Ala650Val)
|
|
|
NM_001142800.2(EYS):c.1950G>C (p.Ala650=)
|
|
|
NM_001142800.2(EYS):c.1953C>A (p.Ser651=)
|
rs2150286247
|
|
NM_001142800.2(EYS):c.1953C>T (p.Ser651=)
|
|
|
NM_001142800.2(EYS):c.1961dup (p.Asn654fs)
|
rs749103801
|
|
NM_001142800.2(EYS):c.1963G>T (p.Gly655Ter)
|
|
|
NM_001142800.2(EYS):c.1966A>G (p.Thr656Ala)
|
|
|
NM_001142800.2(EYS):c.1967C>T (p.Thr656Ile)
|
|
|
NM_001142800.2(EYS):c.1968A>G (p.Thr656=)
|
|
|
NM_001142800.2(EYS):c.1974T>C (p.Ser658=)
|
rs1768648758
|
|
NM_001142800.2(EYS):c.1977A>C (p.Thr659=)
|
rs2150286230
|
|
NM_001142800.2(EYS):c.1983A>G (p.Leu661=)
|
|
|
NM_001142800.2(EYS):c.1984A>C (p.Arg662=)
|
|
|
NM_001142800.2(EYS):c.1989A>C (p.Gly663=)
|
rs2150286220
|
|
NM_001142800.2(EYS):c.19G>A (p.Val7Ile)
|
|
|
NM_001142800.2(EYS):c.2000G>A (p.Arg667His)
|
rs549456693
|
|
NM_001142800.2(EYS):c.2000G>C (p.Arg667Pro)
|
rs549456693
|
|
NM_001142800.2(EYS):c.2000G>T (p.Arg667Leu)
|
rs549456693
|
|
NM_001142800.2(EYS):c.2004G>C (p.Lys668Asn)
|
|
|
NM_001142800.2(EYS):c.2006G>T (p.Cys669Phe)
|
|
|
NM_001142800.2(EYS):c.2009T>A (p.Val670Asp)
|
|
|
NM_001142800.2(EYS):c.2021_2023+1dup
|
rs2150286198
|
|
NM_001142800.2(EYS):c.2023+10T>C
|
|
|
NM_001142800.2(EYS):c.2023+10_2023+26del
|
|
|
NM_001142800.2(EYS):c.2023+14_2023+15dup
|
rs35045551
|
|
NM_001142800.2(EYS):c.2023+15del
|
rs35045551
|
|
NM_001142800.2(EYS):c.2023+15dup
|
rs35045551
|
|
NM_001142800.2(EYS):c.2023+1G>A
|
rs980430860
|
|
NM_001142800.2(EYS):c.2023+5G>T
|
rs1287889008
|
|
NM_001142800.2(EYS):c.2023+7_2023+8insG
|
rs2150286189
|
|
NM_001142800.2(EYS):c.2023+9T>A
|
rs1423346150
|
|
NM_001142800.2(EYS):c.2023+9T>G
|
rs1423346150
|
|
NM_001142800.2(EYS):c.2023+9_2023+10insA
|
rs2150286179
|
|
NM_001142800.2(EYS):c.2024-13C>A
|
|
|
NM_001142800.2(EYS):c.2024-13C>T
|
|
|
NM_001142800.2(EYS):c.2024-13del
|
rs761134985
|
|
NM_001142800.2(EYS):c.2024-14_2024-13insTT
|
rs142590049
|
|
NM_001142800.2(EYS):c.2024-15del
|
rs202085379
|
|
NM_001142800.2(EYS):c.2024-15dup
|
rs202085379
|
|
NM_001142800.2(EYS):c.2024-1G>C
|
|
|
NM_001142800.2(EYS):c.2024-20T>C
|
|
|
NM_001142800.2(EYS):c.2024-2del
|
rs2150157701
|
|
NM_001142800.2(EYS):c.2024-6C>T
|
|
|
NM_001142800.2(EYS):c.2028G>T (p.Thr676=)
|
rs758722034
|
|
NM_001142800.2(EYS):c.2037A>G (p.Glu679=)
|
|
|
NM_001142800.2(EYS):c.2048A>G (p.Asp683Gly)
|
|
|
NM_001142800.2(EYS):c.204T>C (p.Thr68=)
|
rs2127271686
|
|
NM_001142800.2(EYS):c.2052G>A (p.Glu684=)
|
|
|
NM_001142800.2(EYS):c.2055T>A (p.Cys685Ter)
|
rs372354156
|
|
NM_001142800.2(EYS):c.2067C>T (p.Pro689=)
|
|
|
NM_001142800.2(EYS):c.2068del (p.Cys690fs)
|
|
|
NM_001142800.2(EYS):c.2088C>T (p.Cys696=)
|
|
|
NM_001142800.2(EYS):c.2098C>G (p.Pro700Ala)
|
|
|
NM_001142800.2(EYS):c.2102G>T (p.Gly701Val)
|
rs1027731148
|
|
NM_001142800.2(EYS):c.2103T>A (p.Gly701=)
|
|
|
NM_001142800.2(EYS):c.2109C>G (p.Tyr703Ter)
|
rs377090818
|
|
NM_001142800.2(EYS):c.2124G>A (p.Val708=)
|
rs2150157641
|
|
NM_001142800.2(EYS):c.2130A>G (p.Pro710=)
|
|
|
NM_001142800.2(EYS):c.2133_2134insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCGTCGGCCTCCCTAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT (p.Lys712delinsPhePhePhePhePhePheXaaXaaXaaXaaTer)
|
|
|
NM_001142800.2(EYS):c.2133del (p.Phe711fs)
|
|
|
NM_001142800.2(EYS):c.2134A>G (p.Lys712Glu)
|
|
|
NM_001142800.2(EYS):c.2137+10A>G
|
|
|
NM_001142800.2(EYS):c.2137+13A>G
|
|
|
NM_001142800.2(EYS):c.2137+15G>A
|
|
|
NM_001142800.2(EYS):c.2137+15G>C
|
|
|
NM_001142800.2(EYS):c.2137+17G>C
|
|
|
NM_001142800.2(EYS):c.2137+18A>C
|
|
|
NM_001142800.2(EYS):c.2137+20A>G
|
rs2150157620
|
|
NM_001142800.2(EYS):c.2137+2T>C
|
rs1483428079
|
|
NM_001142800.2(EYS):c.2138-10T>C
|
rs772576838
|
|
NM_001142800.2(EYS):c.2138-13C>A
|
|
|
NM_001142800.2(EYS):c.2138-14T>C
|
|
|
NM_001142800.2(EYS):c.2138-20_2138-16del
|
|
|
NM_001142800.2(EYS):c.2138-4C>G
|
rs2150125933
|
|
NM_001142800.2(EYS):c.2138-8G>A
|
rs2150125941
|
|
NM_001142800.2(EYS):c.2138T>C (p.Val713Ala)
|
rs1771314677
|
|
NM_001142800.2(EYS):c.2139G>T (p.Val713=)
|
|
|
NM_001142800.2(EYS):c.2140G>A (p.Val714Ile)
|
rs1771314601
|
|
NM_001142800.2(EYS):c.214C>G (p.Gln72Glu)
|
|
|
NM_001142800.2(EYS):c.2154C>A (p.Ser718=)
|
|
|
NM_001142800.2(EYS):c.2159T>A (p.Leu720Ter)
|
|
|
NM_001142800.2(EYS):c.2163C>T (p.Cys721=)
|
rs1485762557
|
|
NM_001142800.2(EYS):c.216del (p.Ala73fs)
|
rs1459031771
|
|
NM_001142800.2(EYS):c.2174_2175del (p.Tyr725fs)
|
|
|
NM_001142800.2(EYS):c.2175T>C (p.Tyr725=)
|
|
|
NM_001142800.2(EYS):c.2181G>T (p.Gly727=)
|
|
|
NM_001142800.2(EYS):c.2189G>A (p.Cys730Tyr)
|
rs1240334331
|
|
NM_001142800.2(EYS):c.2193A>G (p.Glu731=)
|
rs2150125905
|
|
NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter)
|
rs794727120
|
|
NM_001142800.2(EYS):c.2197G>C (p.Asp733His)
|
rs904604158
|
|
NM_001142800.2(EYS):c.2206G>A (p.Asp736Asn)
|
|
|
NM_001142800.2(EYS):c.2217G>T (p.Leu739=)
|
|
|
NM_001142800.2(EYS):c.2227G>A (p.Glu743Lys)
|
rs757689268
|
|
NM_001142800.2(EYS):c.2235T>C (p.Asn745=)
|
rs2150125871
|
|
NM_001142800.2(EYS):c.2241C>G (p.Thr747=)
|
rs1771310065
|
|
NM_001142800.2(EYS):c.2241C>T (p.Thr747=)
|
rs1771310065
|
|
NM_001142800.2(EYS):c.224C>G (p.Pro75Arg)
|
|
|
NM_001142800.2(EYS):c.2259+10C>G
|
|
|
NM_001142800.2(EYS):c.2259+12C>A
|
|
|
NM_001142800.2(EYS):c.2259+14G>C
|
|
|
NM_001142800.2(EYS):c.2259+1G>C
|
rs752736741
|
|
NM_001142800.2(EYS):c.2259+1G>T
|
|
|
NM_001142800.2(EYS):c.2259+8T>A
|
rs2150125850
|
|
NM_001142800.2(EYS):c.225C>G (p.Pro75=)
|
|
|
NM_001142800.2(EYS):c.2260-10A>G
|
|
|
NM_001142800.2(EYS):c.2260-12A>T
|
|
|
NM_001142800.2(EYS):c.2260-15T>G
|
|
|
NM_001142800.2(EYS):c.2260-16T>G
|
rs2150096149
|
|
NM_001142800.2(EYS):c.2260-1G>T
|
|
|
NM_001142800.2(EYS):c.2260-1_2263delinsCAC
|
|
|
NM_001142800.2(EYS):c.2260-20A>G
|
|
|
NM_001142800.2(EYS):c.2260-23TA[2]
|
|
|
NM_001142800.2(EYS):c.2260-3T>G
|
rs2150096134
|
|
NM_001142800.2(EYS):c.2260-4T>G
|
rs2150096139
|
|
NM_001142800.2(EYS):c.2260-7C>A
|
rs532797776
|
|
NM_001142800.2(EYS):c.2260-7C>G
|
|
|
NM_001142800.2(EYS):c.2271T>C (p.Cys757=)
|
rs1769273712
|
|
NM_001142800.2(EYS):c.2275_2276del (p.Cys759fs)
|
rs758506938
|
|
NM_001142800.2(EYS):c.2277C>A (p.Cys759Ter)
|
|
|
NM_001142800.2(EYS):c.2287T>G (p.Trp763Gly)
|
rs886061684
|
|
NM_001142800.2(EYS):c.2289G>A (p.Trp763Ter)
|
|
|
NM_001142800.2(EYS):c.2289G>T (p.Trp763Cys)
|
rs1769272826
|
|
NM_001142800.2(EYS):c.2299T>C (p.Phe767Leu)
|
|
|
NM_001142800.2(EYS):c.2301T>C (p.Phe767=)
|
|
|
NM_001142800.2(EYS):c.2307A>G (p.Glu769=)
|
|
|
NM_001142800.2(EYS):c.2308C>A (p.Gln770Lys)
|
|
|
NM_001142800.2(EYS):c.2308C>G (p.Gln770Glu)
|
rs992863438
|
|
NM_001142800.2(EYS):c.2310A>G (p.Gln770=)
|
rs1252575967
|
|
NM_001142800.2(EYS):c.2311G>C (p.Glu771Gln)
|
|
|
NM_001142800.2(EYS):c.2311G>T (p.Glu771Ter)
|
|
|
NM_001142800.2(EYS):c.231T>C (p.Ile77=)
|
|
|
NM_001142800.2(EYS):c.2322G>A (p.Glu774=)
|
rs1769270123
|
|
NM_001142800.2(EYS):c.2323T>C (p.Cys775Arg)
|
rs1769270016
|
|
NM_001142800.2(EYS):c.232T>C (p.Cys78Arg)
|
|
|
NM_001142800.2(EYS):c.232del (p.Cys78fs)
|
rs1468020897
|
|
NM_001142800.2(EYS):c.2331G>T (p.Met777Ile)
|
rs1769269524
|
|
NM_001142800.2(EYS):c.2334T>C (p.Asn778=)
|
|
|
NM_001142800.2(EYS):c.2340C>A (p.Cys780Ter)
|
|
|
NM_001142800.2(EYS):c.2343G>A (p.Lys781=)
|
|
|
NM_001142800.2(EYS):c.2346C>A (p.Asn782Lys)
|
|
|
NM_001142800.2(EYS):c.2352C>T (p.Ser784=)
|
|
|
NM_001142800.2(EYS):c.2357G>C (p.Cys786Ser)
|
rs1769268250
|
|
NM_001142800.2(EYS):c.2358T>C (p.Cys786=)
|
rs2150096065
|
|
NM_001142800.2(EYS):c.2364C>T (p.Asp788=)
|
rs1182039744
|
|
NM_001142800.2(EYS):c.236C>G (p.Pro79Arg)
|
|
|
NM_001142800.2(EYS):c.2370C>G (p.Tyr790Ter)
|
rs1439242117
|
|
NM_001142800.2(EYS):c.2374del (p.Ser792fs)
|
rs2150096054
|
|
NM_001142800.2(EYS):c.2376C>T (p.Ser792=)
|
|
|
NM_001142800.2(EYS):c.2381+10A>G
|
|
|
NM_001142800.2(EYS):c.2381+10A>T
|
|
|
NM_001142800.2(EYS):c.2381+11T>C
|
|
|
NM_001142800.2(EYS):c.2381+19G>T
|
|
|
NM_001142800.2(EYS):c.2381+1G>A
|
rs1769267226
|
|
NM_001142800.2(EYS):c.2381+20C>T
|
|
|
NM_001142800.2(EYS):c.2381+20del
|
|
|
NM_001142800.2(EYS):c.2381G>A (p.Arg794Gln)
|
|
|
NM_001142800.2(EYS):c.2382-12A>G
|
|
|
NM_001142800.2(EYS):c.2382-15A>T
|
|
|
NM_001142800.2(EYS):c.2382-18T>G
|
rs2150076976
|
|
NM_001142800.2(EYS):c.2382-7A>T
|
|
|
NM_001142800.2(EYS):c.2383T>A (p.Cys795Ser)
|
rs912541868
|
|
NM_001142800.2(EYS):c.2385T>C (p.Cys795=)
|
rs2150076954
|
|
NM_001142800.2(EYS):c.2390G>A (p.Cys797Tyr)
|
|
|
NM_001142800.2(EYS):c.2406T>C (p.Thr802=)
|
rs2150076931
|
|
NM_001142800.2(EYS):c.2409A>G (p.Gly803=)
|
rs191325005
|
|
NM_001142800.2(EYS):c.240G>A (p.Leu80=)
|
rs2127271610
|
|
NM_001142800.2(EYS):c.2410C>T (p.Gln804Ter)
|
|
|
NM_001142800.2(EYS):c.2412G>C (p.Gln804His)
|
|
|
NM_001142800.2(EYS):c.2415C>A (p.Asn805Lys)
|
rs2150076923
|
|
NM_001142800.2(EYS):c.2418T>C (p.Cys806=)
|
rs2150076920
|
|
NM_001142800.2(EYS):c.2425G>T (p.Glu809Ter)
|
rs951544417
|
|
NM_001142800.2(EYS):c.2427A>C (p.Glu809Asp)
|
rs2150076908
|
|
NM_001142800.2(EYS):c.2439C>A (p.Cys813Ter)
|
rs367546131
|
|
NM_001142800.2(EYS):c.243A>G (p.Gln81=)
|
|
|
NM_001142800.2(EYS):c.2440G>A (p.Asp814Asn)
|
|
|
NM_001142800.2(EYS):c.2446G>T (p.Asp816Tyr)
|
|
|
NM_001142800.2(EYS):c.2450C>T (p.Pro817Leu)
|
rs1468227595
|
|
NM_001142800.2(EYS):c.2465G>A (p.Gly822Asp)
|
rs1768037499
|
|
NM_001142800.2(EYS):c.246T>A (p.Ile82=)
|
|
|
NM_001142800.2(EYS):c.2474del (p.His825fs)
|
rs2150076878
|
|
NM_001142800.2(EYS):c.2481T>C (p.Ser827=)
|
rs990720429
|
|
NM_001142800.2(EYS):c.2482A>G (p.Thr828Ala)
|
rs1474430377
|
|
NM_001142800.2(EYS):c.2483C>G (p.Thr828Ser)
|
rs1768037062
|
|
NM_001142800.2(EYS):c.2484C>G (p.Thr828=)
|
|
|
NM_001142800.2(EYS):c.2485A>G (p.Ile829Val)
|
|
|
NM_001142800.2(EYS):c.2486T>C (p.Ile829Thr)
|
|
|
NM_001142800.2(EYS):c.2486del (p.Ile829fs)
|
rs2150076869
|
|
NM_001142800.2(EYS):c.2487C>T (p.Ile829=)
|
rs1159226555
|
|
NM_001142800.2(EYS):c.2496A>G (p.Gln832=)
|
|
|
NM_001142800.2(EYS):c.2498T>C (p.Phe833Ser)
|
|
|
NM_001142800.2(EYS):c.2499T>C (p.Phe833=)
|
|
|
NM_001142800.2(EYS):c.2499del (p.Phe833fs)
|
|
|
NM_001142800.2(EYS):c.2500G>T (p.Val834Leu)
|
rs112464110
|
|
NM_001142800.2(EYS):c.2502A>G (p.Val834=)
|
|
|
NM_001142800.2(EYS):c.2508G>A (p.Leu836=)
|
rs2150076846
|
|
NM_001142800.2(EYS):c.2513C>A (p.Pro838Gln)
|
|
|
NM_001142800.2(EYS):c.2513del (p.Pro838fs)
|
|
|
NM_001142800.2(EYS):c.2515C>T (p.Pro839Ser)
|
|
|
NM_001142800.2(EYS):c.2517C>A (p.Pro839=)
|
|
|
NM_001142800.2(EYS):c.2517C>G (p.Pro839=)
|
rs1359464004
|
|
NM_001142800.2(EYS):c.2523T>C (p.Tyr841=)
|
|
|
NM_001142800.2(EYS):c.2526T>C (p.Thr842=)
|
|
|
NM_001142800.2(EYS):c.2527G>A (p.Gly843Arg)
|
rs2150076826
|
|
NM_001142800.2(EYS):c.2532A>G (p.Gln844=)
|
|
|
NM_001142800.2(EYS):c.2540A>T (p.His847Leu)
|
rs1460353199
|
|
NM_001142800.2(EYS):c.2541C>T (p.His847=)
|
rs1473934022
|
|
NM_001142800.2(EYS):c.2544A>G (p.Gln848=)
|
|
|
NM_001142800.2(EYS):c.2545C>A (p.Arg849Ser)
|
|
|
NM_001142800.2(EYS):c.2546G>T (p.Arg849Leu)
|
|
|
NM_001142800.2(EYS):c.2547C>T (p.Arg849=)
|
|
|
NM_001142800.2(EYS):c.2551A>C (p.Asn851His)
|
|
|
NM_001142800.2(EYS):c.2554_2555delinsGC (p.Leu852Ala)
|
rs2150076798
|
|
NM_001142800.2(EYS):c.2554del (p.Leu852fs)
|
rs2150076802
|
|
NM_001142800.2(EYS):c.2555_2556delinsCA (p.Leu852Pro)
|
rs2150076791
|
|
NM_001142800.2(EYS):c.2555_2556delinsCC (p.Leu852Pro)
|
|
|
NM_001142800.2(EYS):c.2563C>T (p.Leu855=)
|
rs1768032777
|
|
NM_001142800.2(EYS):c.2575C>A (p.Pro859Thr)
|
|
|
NM_001142800.2(EYS):c.2575C>G (p.Pro859Ala)
|
|
|
NM_001142800.2(EYS):c.2576C>T (p.Pro859Leu)
|
|
|
NM_001142800.2(EYS):c.2579_2580delinsAA (p.Cys860Ter)
|
|
|
NM_001142800.2(EYS):c.2589C>G (p.Asn863Lys)
|
|
|
NM_001142800.2(EYS):c.2589C>T (p.Asn863=)
|
|
|
NM_001142800.2(EYS):c.2607G>A (p.Leu869=)
|
|
|
NM_001142800.2(EYS):c.2614G>A (p.Ala872Thr)
|
|
|
NM_001142800.2(EYS):c.2614G>C (p.Ala872Pro)
|
rs957725168
|
|
NM_001142800.2(EYS):c.2615C>G (p.Ala872Gly)
|
rs2150076756
|
|
NM_001142800.2(EYS):c.2617A>G (p.Asn873Asp)
|
|
|
NM_001142800.2(EYS):c.2622G>A (p.Gln874=)
|
rs377592930
|
|
NM_001142800.2(EYS):c.2633G>A (p.Cys878Tyr)
|
|
|
NM_001142800.2(EYS):c.2634T>C (p.Cys878=)
|
rs2150076747
|
|
NM_001142800.2(EYS):c.2637A>G (p.Arg879=)
|
|
|
NM_001142800.2(EYS):c.2638G>T (p.Glu880Ter)
|
rs2150076741
|
|
NM_001142800.2(EYS):c.2641+14T>C
|
|
|
NM_001142800.2(EYS):c.2641+15G>A
|
|
|
NM_001142800.2(EYS):c.2641+15G>T
|
|
|
NM_001142800.2(EYS):c.2641+1G>A
|
rs1768029728
|
|
NM_001142800.2(EYS):c.2641+20T>G
|
|
|
NM_001142800.2(EYS):c.2641G>A (p.Glu881Lys)
|
rs1768029780
|
|
NM_001142800.2(EYS):c.2642-11A>G
|
|
|
NM_001142800.2(EYS):c.2642-12T>C
|
|
|
NM_001142800.2(EYS):c.2642-14C>T
|
|
|
NM_001142800.2(EYS):c.2642-18A>G
|
|
|
NM_001142800.2(EYS):c.2642-19C>T
|
rs2150071824
|
|
NM_001142800.2(EYS):c.2642-6_2642-5del
|
rs1483941780
|
|
NM_001142800.2(EYS):c.2642-7T>C
|
rs1250749536
|
|
NM_001142800.2(EYS):c.2642-9T>G
|
|
|
NM_001142800.2(EYS):c.264T>C (p.Leu88=)
|
|
|
NM_001142800.2(EYS):c.2650G>A (p.Gly884Ser)
|
|
|
NM_001142800.2(EYS):c.2651G>A (p.Gly884Asp)
|
|
|
NM_001142800.2(EYS):c.2652dup (p.Lys885Ter)
|
rs1767699695
|
|
NM_001142800.2(EYS):c.2657del (p.Asn886fs)
|
|
|
NM_001142800.2(EYS):c.2671G>A (p.Val891Met)
|
|
|
NM_001142800.2(EYS):c.2673G>A (p.Val891=)
|
rs2150071791
|
|
NM_001142800.2(EYS):c.2688C>T (p.Phe896=)
|
|
|
NM_001142800.2(EYS):c.2694del (p.Cys899fs)
|
rs2150071783
|
|
NM_001142800.2(EYS):c.2706T>C (p.Tyr902=)
|
|
|
NM_001142800.2(EYS):c.2706T>G (p.Tyr902Ter)
|
|
|
NM_001142800.2(EYS):c.2715_2716del (p.Cys905_Glu906delinsTer)
|
rs2150071769
|
|
NM_001142800.2(EYS):c.2718A>G (p.Glu906=)
|
rs1432938356
|
|
NM_001142800.2(EYS):c.2727C>G (p.Val909=)
|
|
|
NM_001142800.2(EYS):c.2738+11C>A
|
|
|
NM_001142800.2(EYS):c.2738+11C>G
|
|
|
NM_001142800.2(EYS):c.2738+17A>T
|
|
|
NM_001142800.2(EYS):c.2738+19G>T
|
|
|
NM_001142800.2(EYS):c.2738+1G>A
|
rs1767696253
|
|
NM_001142800.2(EYS):c.2738+1G>T
|
rs1767696253
|
|
NM_001142800.2(EYS):c.2738+3A>G
|
|
|
NM_001142800.2(EYS):c.2738+7A>G
|
rs1583277836
|
|
NM_001142800.2(EYS):c.2739-10del
|
rs1767690191
|
|
NM_001142800.2(EYS):c.2739-10dup
|
rs1767690191
|
|
NM_001142800.2(EYS):c.2739-16A>T
|
|
|
NM_001142800.2(EYS):c.2739-18A>C
|
|
|
NM_001142800.2(EYS):c.2739-1G>A
|
rs943468139
|
|
NM_001142800.2(EYS):c.2739-1G>T
|
rs943468139
|
|
NM_001142800.2(EYS):c.2739-5A>T
|
|
|
NM_001142800.2(EYS):c.2739-7T>C
|
rs2150071680
|
|
NM_001142800.2(EYS):c.2739-9G>C
|
|
|
NM_001142800.2(EYS):c.2739G>T (p.Arg913Ser)
|
rs77020971
|
|
NM_001142800.2(EYS):c.2748C>A (p.Cys916Ter)
|
rs1391928253
|
|
NM_001142800.2(EYS):c.2757G>A (p.Gly919=)
|
|
|
NM_001142800.2(EYS):c.2760T>C (p.Phe920=)
|
rs2150071666
|
|
NM_001142800.2(EYS):c.2766A>G (p.Gly922=)
|
rs2150071661
|
|
NM_001142800.2(EYS):c.2769T>C (p.Ser923=)
|
rs2150071659
|
|
NM_001142800.2(EYS):c.2770C>T (p.Leu924=)
|
rs1040002337
|
|
NM_001142800.2(EYS):c.2772G>A (p.Leu924=)
|
rs767103281
|
|
NM_001142800.2(EYS):c.2772G>C (p.Leu924=)
|
rs767103281
|
|
NM_001142800.2(EYS):c.2777A>T (p.Glu926Val)
|
rs1190624699
|
|
NM_001142800.2(EYS):c.2791G>A (p.Glu931Lys)
|
|
|
NM_001142800.2(EYS):c.2791G>T (p.Glu931Ter)
|
|
|
NM_001142800.2(EYS):c.2793A>G (p.Glu931=)
|
rs561012891
|
|
NM_001142800.2(EYS):c.2799C>T (p.Ser933=)
|
|
|
NM_001142800.2(EYS):c.2802T>C (p.Ser934=)
|
|
|
NM_001142800.2(EYS):c.2807del (p.Pro936fs)
|
|
|
NM_001142800.2(EYS):c.2811C>T (p.Cys937=)
|
|
|
NM_001142800.2(EYS):c.2811_2830del (p.Lys938fs)
|
rs2150071623
|
|
NM_001142800.2(EYS):c.2816A>G (p.Asn939Ser)
|
|
|
NM_001142800.2(EYS):c.2820_2824del (p.Gly941fs)
|
rs1583277585
|
|
NM_001142800.2(EYS):c.2826A>C (p.Thr942=)
|
rs1286173421
|
|
NM_001142800.2(EYS):c.2826A>G (p.Thr942=)
|
|
|
NM_001142800.2(EYS):c.2828G>A (p.Cys943Tyr)
|
rs986462667
|
|
NM_001142800.2(EYS):c.2829T>A (p.Cys943Ter)
|
|
|
NM_001142800.2(EYS):c.282A>G (p.Pro94=)
|
rs2127271551
|
|
NM_001142800.2(EYS):c.283T>G (p.Ser95Ala)
|
|
|
NM_001142800.2(EYS):c.2844C>T (p.Asn948=)
|
rs2150071619
|
|
NM_001142800.2(EYS):c.2845A>T (p.Arg949Ter)
|
|
|
NM_001142800.2(EYS):c.2846+17T>C
|
|
|
NM_001142800.2(EYS):c.2846+17del
|
|
|
NM_001142800.2(EYS):c.2846+18A>G
|
|
|
NM_001142800.2(EYS):c.2846+7A>G
|
rs1767684916
|
|
NM_001142800.2(EYS):c.2846+8G>T
|
|
|
NM_001142800.2(EYS):c.2846+9C>A
|
rs1368724134
|
|
NM_001142800.2(EYS):c.2846+9C>T
|
rs1368724134
|
|
NM_001142800.2(EYS):c.2847-12A>C
|
|
|
NM_001142800.2(EYS):c.2847-12A>G
|
|
|
NM_001142800.2(EYS):c.2847-18T>C
|
|
|
NM_001142800.2(EYS):c.2847-1G>T
|
|
|
NM_001142800.2(EYS):c.2847-20A>G
|
|
|
NM_001142800.2(EYS):c.2854dup (p.Cys952fs)
|
rs779877426
|
|
NM_001142800.2(EYS):c.2859T>C (p.Asn953=)
|
rs2150063338
|
|
NM_001142800.2(EYS):c.285T>C (p.Ser95=)
|
|
|
NM_001142800.2(EYS):c.2861G>T (p.Cys954Phe)
|
|
|
NM_001142800.2(EYS):c.2871G>T (p.Glu957Asp)
|
rs1767104470
|
|
NM_001142800.2(EYS):c.2880G>A (p.Gly960=)
|
|
|
NM_001142800.2(EYS):c.2881C>G (p.Pro961Ala)
|
rs1170138781
|
|
NM_001142800.2(EYS):c.2883C>G (p.Pro961=)
|
|
|
NM_001142800.2(EYS):c.2892A>T (p.Glu964Asp)
|
|
|
NM_001142800.2(EYS):c.2898T>C (p.Asp966=)
|
|
|
NM_001142800.2(EYS):c.2899G>A (p.Val967Ile)
|
|
|
NM_001142800.2(EYS):c.289C>T (p.Gln97Ter)
|
rs1766202141
|
|
NM_001142800.2(EYS):c.2904T>C (p.Asn968=)
|
|
|
NM_001142800.2(EYS):c.2907del (p.Lys969fs)
|
|
|
NM_001142800.2(EYS):c.2909G>A (p.Cys970Tyr)
|
rs1767101953
|
|
NM_001142800.2(EYS):c.2919A>G (p.Ser973=)
|
|
|
NM_001142800.2(EYS):c.2923T>C (p.Cys975Arg)
|
|
|
NM_001142800.2(EYS):c.2926C>T (p.Leu976=)
|
|
|
NM_001142800.2(EYS):c.2930A>G (p.Asp977Gly)
|
rs1459465709
|
|
NM_001142800.2(EYS):c.2931T>C (p.Asp977=)
|
rs2150063285
|
|
NM_001142800.2(EYS):c.2932G>A (p.Glu978Lys)
|
rs907697038
|
|
NM_001142800.2(EYS):c.2940T>C (p.Asn980=)
|
|
|
NM_001142800.2(EYS):c.2946C>T (p.Val982=)
|
rs2150063272
|
|
NM_001142800.2(EYS):c.2950A>G (p.Arg984Gly)
|
rs1030671986
|
|
NM_001142800.2(EYS):c.2955T>A (p.Thr985=)
|
|
|
NM_001142800.2(EYS):c.2961A>G (p.Gly987=)
|
rs998158354
|
|
NM_001142800.2(EYS):c.2964C>T (p.Tyr988=)
|
|
|
NM_001142800.2(EYS):c.2967C>T (p.Asn989=)
|
rs1767097811
|
|
NM_001142800.2(EYS):c.2975G>T (p.Cys992Phe)
|
rs566917467
|
|
NM_001142800.2(EYS):c.2979C>A (p.Ala993=)
|
rs2150063234
|
|
NM_001142800.2(EYS):c.2979C>G (p.Ala993=)
|
|
|
NM_001142800.2(EYS):c.2980C>G (p.Pro994Ala)
|
|
|
NM_001142800.2(EYS):c.2981del (p.Pro994fs)
|
rs1583260302
|
|
NM_001142800.2(EYS):c.2982T>C (p.Pro994=)
|
|
|
NM_001142800.2(EYS):c.298G>T (p.Glu100Ter)
|
|
|
NM_001142800.2(EYS):c.2992+11A>C
|
|
|
NM_001142800.2(EYS):c.2992+13C>T
|
|
|
NM_001142800.2(EYS):c.2992+16T>A
|
|
|
NM_001142800.2(EYS):c.2992+9A>C
|
rs886061680
|
|
NM_001142800.2(EYS):c.2992+9A>G
|
rs886061680
|
|
NM_001142800.2(EYS):c.2993-13T>G
|
|
|
NM_001142800.2(EYS):c.2993-14C>T
|
|
|
NM_001142800.2(EYS):c.2993-1G>A
|
|
|
NM_001142800.2(EYS):c.2993-5C>T
|
rs1287492434
|
|
NM_001142800.2(EYS):c.2993-7A>T
|
rs1764940916
|
|
NM_001142800.2(EYS):c.2993-9C>T
|
|
|
NM_001142800.2(EYS):c.2993G>A (p.Gly998Asp)
|
rs578061514
|
|
NM_001142800.2(EYS):c.299A>G (p.Glu100Gly)
|
rs1766201729
|
|
NM_001142800.2(EYS):c.3001del (p.Cys1001fs)
|
rs2150022848
|
|
NM_001142800.2(EYS):c.3003_3004del (p.Cys1001_Glu1002delinsTer)
|
rs1764940309
|
|
NM_001142800.2(EYS):c.3009A>C (p.Ile1003=)
|
rs1583194501
|
|
NM_001142800.2(EYS):c.3010A>G (p.Asn1004Asp)
|
rs781222768
|
|
NM_001142800.2(EYS):c.3015A>G (p.Leu1005=)
|
|
|
NM_001142800.2(EYS):c.3018T>C (p.Asp1006=)
|
rs2150022821
|
|
NM_001142800.2(EYS):c.3023G>A (p.Cys1008Tyr)
|
|
|
NM_001142800.2(EYS):c.3024C>A (p.Cys1008Ter)
|
rs1764939836
|
|
NM_001142800.2(EYS):c.3025C>T (p.Leu1009=)
|
rs1764939774
|
|
NM_001142800.2(EYS):c.3026T>C (p.Leu1009Pro)
|
|
|
NM_001142800.2(EYS):c.3027A>C (p.Leu1009=)
|
rs900271990
|
|
NM_001142800.2(EYS):c.3031G>A (p.Glu1011Lys)
|
|
|
NM_001142800.2(EYS):c.3040C>A (p.Leu1014Ile)
|
|
|
NM_001142800.2(EYS):c.3042C>G (p.Leu1014=)
|
rs2150022790
|
|
NM_001142800.2(EYS):c.3042C>T (p.Leu1014=)
|
|
|
NM_001142800.2(EYS):c.3045T>C (p.His1015=)
|
rs1042883062
|
|
NM_001142800.2(EYS):c.3045T>G (p.His1015Gln)
|
|
|
NM_001142800.2(EYS):c.3048T>C (p.Asp1016=)
|
|
|
NM_001142800.2(EYS):c.3062A>G (p.Asp1021Gly)
|
|
|
NM_001142800.2(EYS):c.306T>C (p.Asn102=)
|
|
|
NM_001142800.2(EYS):c.3072T>A (p.Asn1024Lys)
|
rs2150022753
|
|
NM_001142800.2(EYS):c.3076T>C (p.Tyr1026His)
|
rs913206057
|
|
NM_001142800.2(EYS):c.3078_3079delinsCG (p.Thr1027Ala)
|
|
|
NM_001142800.2(EYS):c.307T>C (p.Leu103=)
|
rs1766201371
|
|
NM_001142800.2(EYS):c.3089G>C (p.Cys1030Ser)
|
rs1764936871
|
|
NM_001142800.2(EYS):c.3105T>C (p.Phe1035=)
|
rs969468917
|
|
NM_001142800.2(EYS):c.3105dup (p.Gly1036fs)
|
|
|
NM_001142800.2(EYS):c.3106G>T (p.Gly1036Ter)
|
|
|
NM_001142800.2(EYS):c.3106_3113delinsTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACC (p.Gly1036_His1038delinsPhePhePhePhePhePheXaaXaaXaaXaaPhePhePhePheIleIleLeuTer)
|
rs2150022701
|
|
NM_001142800.2(EYS):c.3112del (p.His1038fs)
|
|
|
NM_001142800.2(EYS):c.3120A>G (p.Glu1040=)
|
|
|
NM_001142800.2(EYS):c.3123A>T (p.Thr1041=)
|
rs1220615435
|
|
NM_001142800.2(EYS):c.3126C>T (p.Asn1042=)
|
rs368790430
|
|
NM_001142800.2(EYS):c.3127G>A (p.Ala1043Thr)
|
rs2150022688
|
|
NM_001142800.2(EYS):c.3131A>G (p.Asn1044Ser)
|
|
|
NM_001142800.2(EYS):c.3135T>C (p.Asp1045=)
|
|
|
NM_001142800.2(EYS):c.3141T>C (p.Leu1047=)
|
|
|
NM_001142800.2(EYS):c.3143C>G (p.Ser1048Ter)
|
|
|
NM_001142800.2(EYS):c.3146A>G (p.Asn1049Ser)
|
rs2150022666
|
|
NM_001142800.2(EYS):c.3146del (p.Asn1049fs)
|
|
|
NM_001142800.2(EYS):c.3153del (p.Leu1052fs)
|
rs1764934644
|
|
NM_001142800.2(EYS):c.3164+15del
|
rs201012275
|
|
NM_001142800.2(EYS):c.3164+16A>G
|
|
|
NM_001142800.2(EYS):c.3164+2T>C
|
|
|
NM_001142800.2(EYS):c.3164+8T>A
|
rs1385606496
|
|
NM_001142800.2(EYS):c.3164+8dup
|
rs201012275
|
|
NM_001142800.2(EYS):c.3165-12del
|
|
|
NM_001142800.2(EYS):c.3165-13T>C
|
rs1389539447
|
|
NM_001142800.2(EYS):c.3165-17C>T
|
|
|
NM_001142800.2(EYS):c.3165-2A>G
|
rs2150022025
|
|
NM_001142800.2(EYS):c.3165-7_3165-6del
|
rs1764905524
|
|
NM_001142800.2(EYS):c.3171A>T (p.Thr1057=)
|
rs1213184319
|
|
NM_001142800.2(EYS):c.3172G>T (p.Glu1058Ter)
|
rs2150022015
|
|
NM_001142800.2(EYS):c.3174A>T (p.Glu1058Asp)
|
rs1764904888
|
|
NM_001142800.2(EYS):c.3178_3179del (p.Leu1059_Ile1060insTer)
|
|
|
NM_001142800.2(EYS):c.3183T>A (p.Asn1061Lys)
|
|
|
NM_001142800.2(EYS):c.3189T>C (p.Tyr1063=)
|
|
|
NM_001142800.2(EYS):c.3197C>T (p.Ser1066Leu)
|
|
|
NM_001142800.2(EYS):c.3198A>G (p.Ser1066=)
|
rs1222670929
|
|
NM_001142800.2(EYS):c.31C>T (p.Leu11=)
|
rs1475478558
|
|
NM_001142800.2(EYS):c.3201T>A (p.Cys1067Ter)
|
rs2150021992
|
|
NM_001142800.2(EYS):c.3203A>T (p.Asp1068Val)
|
|
|
NM_001142800.2(EYS):c.3213G>A (p.Gly1071=)
|
rs2150021979
|
|
NM_001142800.2(EYS):c.3213del (p.Thr1072fs)
|
|
|
NM_001142800.2(EYS):c.3219C>T (p.Ser1073=)
|
|
|
NM_001142800.2(EYS):c.321T>G (p.Ser107=)
|
rs2127271495
|
|
NM_001142800.2(EYS):c.3221C>T (p.Thr1074Ile)
|
|
|
NM_001142800.2(EYS):c.3228T>C (p.Cys1076=)
|
|
|
NM_001142800.2(EYS):c.3243+7C>T
|
|
|
NM_001142800.2(EYS):c.3243+8_3243+9del
|
rs2150021949
|
|
NM_001142800.2(EYS):c.3244-13T>A
|
|
|
NM_001142800.2(EYS):c.3244-4C>G
|
|
|
NM_001142800.2(EYS):c.3244-7A>G
|
|
|
NM_001142800.2(EYS):c.3252A>G (p.Thr1084=)
|
|
|
NM_001142800.2(EYS):c.3262T>A (p.Cys1088Ser)
|
|
|
NM_001142800.2(EYS):c.326C>T (p.Thr109Ile)
|
|
|
NM_001142800.2(EYS):c.3275G>T (p.Gly1092Val)
|
|
|
NM_001142800.2(EYS):c.3280del (p.Cys1094fs)
|
|
|
NM_001142800.2(EYS):c.3285G>A (p.Gln1095=)
|
|
|
NM_001142800.2(EYS):c.3294A>G (p.Ala1098=)
|
|
|
NM_001142800.2(EYS):c.3296A>G (p.His1099Arg)
|
|
|
NM_001142800.2(EYS):c.3297T>C (p.His1099=)
|
rs1583184764
|
|
NM_001142800.2(EYS):c.3298G>T (p.Gly1100Ter)
|
|
|
NM_001142800.2(EYS):c.3299G>A (p.Gly1100Glu)
|
|
|
NM_001142800.2(EYS):c.3311T>C (p.Ile1104Thr)
|
rs1764661327
|
|
NM_001142800.2(EYS):c.3315C>T (p.Cys1105=)
|
rs2150016219
|
|
NM_001142800.2(EYS):c.3317C>T (p.Pro1106Leu)
|
rs1764661002
|
|
NM_001142800.2(EYS):c.3318A>T (p.Pro1106=)
|
|
|
NM_001142800.2(EYS):c.3319C>T (p.Arg1107Cys)
|
rs766897712
|
|
NM_001142800.2(EYS):c.3323G>T (p.Gly1108Val)
|
rs2150016211
|
|
NM_001142800.2(EYS):c.3327C>T (p.Tyr1109=)
|
rs2150016204
|
|
NM_001142800.2(EYS):c.3328A>G (p.Thr1110Ala)
|
|
|
NM_001142800.2(EYS):c.3349dup (p.Ser1117fs)
|
|
|
NM_001142800.2(EYS):c.334G>A (p.Val112Ile)
|
rs112609906
|
|
NM_001142800.2(EYS):c.334G>C (p.Val112Leu)
|
rs112609906
|
|
NM_001142800.2(EYS):c.3353T>C (p.Ile1118Thr)
|
rs1412311460
|
|
NM_001142800.2(EYS):c.3356A>G (p.Asp1119Gly)
|
|
|
NM_001142800.2(EYS):c.335T>C (p.Val112Ala)
|
|
|
NM_001142800.2(EYS):c.3360T>C (p.Asn1120=)
|
rs1583184621
|
|
NM_001142800.2(EYS):c.3363T>C (p.Cys1121=)
|
|
|
NM_001142800.2(EYS):c.3363del (p.Cys1121fs)
|
rs2150016153
|
|
NM_001142800.2(EYS):c.3368A>G (p.Glu1123Gly)
|
rs2150016148
|
|
NM_001142800.2(EYS):c.3369G>A (p.Glu1123=)
|
rs2150016144
|
|
NM_001142800.2(EYS):c.3378del (p.Asn1127fs)
|
|
|
NM_001142800.2(EYS):c.3380A>C (p.Asn1127Thr)
|
|
|
NM_001142800.2(EYS):c.3380A>G (p.Asn1127Ser)
|
|
|
NM_001142800.2(EYS):c.3380A>T (p.Asn1127Ile)
|
|
|
NM_001142800.2(EYS):c.3381T>C (p.Asn1127=)
|
|
|
NM_001142800.2(EYS):c.3385del (p.Val1129fs)
|
rs2150016133
|
|
NM_001142800.2(EYS):c.3391T>C (p.Cys1131Arg)
|
rs1764656337
|
|
NM_001142800.2(EYS):c.3399T>C (p.Asn1133=)
|
rs2150016128
|
|
NM_001142800.2(EYS):c.33G>C (p.Leu11=)
|
rs777361054
|
|
NM_001142800.2(EYS):c.3405G>A (p.Gly1135=)
|
|
|
NM_001142800.2(EYS):c.3405G>C (p.Gly1135=)
|
rs2150016121
|
|
NM_001142800.2(EYS):c.3417T>C (p.Asp1139=)
|
rs1238692406
|
|
NM_001142800.2(EYS):c.3429T>C (p.His1143=)
|
|
|
NM_001142800.2(EYS):c.3429T>G (p.His1143Gln)
|
|
|
NM_001142800.2(EYS):c.342T>A (p.Cys114Ter)
|
rs1418930514
|
|
NM_001142800.2(EYS):c.3435T>C (p.Phe1145=)
|
rs897407671
|
|
NM_001142800.2(EYS):c.3435_3436insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGCTGGACATACTTTT (p.Asp1146delinsPhePhePhePhePhePheXaaXaaXaaXaaGlyPheHisArgPheSerArgAspGlyLeuAspLeuLeuThrSerTer)
|
|
|
NM_001142800.2(EYS):c.3441C>A (p.Cys1147Ter)
|
rs2150016080
|
|
NM_001142800.2(EYS):c.3443+10T>C
|
rs2150016070
|
|
NM_001142800.2(EYS):c.3443+11A>T
|
rs2150016065
|
|
NM_001142800.2(EYS):c.3443+15A>G
|
|
|
NM_001142800.2(EYS):c.3443+15A>T
|
|
|
NM_001142800.2(EYS):c.3443+18C>T
|
|
|
NM_001142800.2(EYS):c.3443+1G>A
|
rs373441420
|
|
NM_001142800.2(EYS):c.3443+4A>C
|
rs2150016072
|
|
NM_001142800.2(EYS):c.3444-10T>C
|
|
|
NM_001142800.2(EYS):c.3444-13T>C
|
|
|
NM_001142800.2(EYS):c.3444-7del
|
rs1163024711
|
|
NM_001142800.2(EYS):c.3444-7dup
|
rs1163024711
|
|
NM_001142800.2(EYS):c.3444-8T>G
|
rs2149856899
|
|
NM_001142800.2(EYS):c.3444A>T (p.Arg1148Ser)
|
rs1377722024
|
|
NM_001142800.2(EYS):c.344T>C (p.Val115Ala)
|
|
|
NM_001142800.2(EYS):c.345G>T (p.Val115=)
|
|
|
NM_001142800.2(EYS):c.3462T>C (p.Ser1154=)
|
|
|
NM_001142800.2(EYS):c.3468A>G (p.Gln1156=)
|
|
|
NM_001142800.2(EYS):c.3473G>A (p.Cys1158Tyr)
|
|
|
NM_001142800.2(EYS):c.3477A>G (p.Glu1159=)
|
rs2149856855
|
|
NM_001142800.2(EYS):c.3485T>C (p.Ile1162Thr)
|
|
|
NM_001142800.2(EYS):c.3489T>C (p.Asn1163=)
|
rs150951106
|
|
NM_001142800.2(EYS):c.3490G>T (p.Glu1164Ter)
|
rs2149856835
|
|
NM_001142800.2(EYS):c.3493T>C (p.Cys1165Arg)
|
|
|
NM_001142800.2(EYS):c.3503C>A (p.Ser1168Ter)
|
rs894122437
|
|
NM_001142800.2(EYS):c.3509G>A (p.Cys1170Tyr)
|
rs1767603582
|
|
NM_001142800.2(EYS):c.3521C>A (p.Ala1174Glu)
|
rs1767602954
|
|
NM_001142800.2(EYS):c.3536A>G (p.His1179Arg)
|
rs1767602193
|
|
NM_001142800.2(EYS):c.3548A>G (p.Tyr1183Cys)
|
rs2149856760
|
|
NM_001142800.2(EYS):c.3549T>C (p.Tyr1183=)
|
|
|
NM_001142800.2(EYS):c.3550G>A (p.Val1184Ile)
|
rs1767601644
|
|
NM_001142800.2(EYS):c.3561C>A (p.Cys1187Ter)
|
rs1767601438
|
|
NM_001142800.2(EYS):c.3562C>T (p.Gln1188Ter)
|
rs2149856749
|
|
NM_001142800.2(EYS):c.3566C>T (p.Pro1189Leu)
|
|
|
NM_001142800.2(EYS):c.3567del (p.Gly1190fs)
|
rs1767601116
|
|
NM_001142800.2(EYS):c.3568+12A>G
|
|
|
NM_001142800.2(EYS):c.3568+12A>T
|
|
|
NM_001142800.2(EYS):c.3568+1G>A
|
rs1767600988
|
|
NM_001142800.2(EYS):c.3568+1G>C
|
|
|
NM_001142800.2(EYS):c.3568+20_3568+22del
|
|
|
NM_001142800.2(EYS):c.3568+7A>G
|
|
|
NM_001142800.2(EYS):c.3568G>C (p.Gly1190Arg)
|
rs1767601042
|
|
NM_001142800.2(EYS):c.3569-17G>A
|
|
|
NM_001142800.2(EYS):c.3569-19T>C
|
|
|
NM_001142800.2(EYS):c.3569-3C>G
|
|
|
NM_001142800.2(EYS):c.3569-6G>A
|
rs940919017
|
|
NM_001142800.2(EYS):c.3569-6G>T
|
rs940919017
|
|
NM_001142800.2(EYS):c.3569-7T>C
|
rs1036723042
|
|
NM_001142800.2(EYS):c.3573G>A (p.Trp1191Ter)
|
rs1239806410
|
|
NM_001142800.2(EYS):c.3573G>T (p.Trp1191Cys)
|
|
|
NM_001142800.2(EYS):c.3581_3582del (p.His1194fs)
|
rs1767312015
|
|
NM_001142800.2(EYS):c.3582C>T (p.His1194=)
|
|
|
NM_001142800.2(EYS):c.3588T>C (p.Cys1196=)
|
|
|
NM_001142800.2(EYS):c.3588dup (p.Glu1197Ter)
|
rs2149849545
|
|
NM_001142800.2(EYS):c.359C>G (p.Thr120Arg)
|
rs12193967
|
|
NM_001142800.2(EYS):c.359C>T (p.Thr120Met)
|
rs12193967
|
|
NM_001142800.2(EYS):c.3612C>T (p.Pro1204=)
|
rs2149849524
|
|
NM_001142800.2(EYS):c.3614A>G (p.Asn1205Ser)
|
rs1767311557
|
|
NM_001142800.2(EYS):c.3615C>T (p.Asn1205=)
|
|
|
NM_001142800.2(EYS):c.3618A>C (p.Ser1206=)
|
|
|
NM_001142800.2(EYS):c.3618_3619del (p.Val1208fs)
|
|
|
NM_001142800.2(EYS):c.361del (p.Glu121fs)
|
rs1582376560
|
|
NM_001142800.2(EYS):c.3624T>C (p.Val1208=)
|
|
|
NM_001142800.2(EYS):c.362A>G (p.Glu121Gly)
|
rs1766196909
|
|
NM_001142800.2(EYS):c.3651T>C (p.Pro1217=)
|
|
|
NM_001142800.2(EYS):c.3654C>A (p.Gly1218=)
|
|
|
NM_001142800.2(EYS):c.3656_3657delinsAA (p.Ser1219Ter)
|
rs2149849472
|
|
NM_001142800.2(EYS):c.3657G>A (p.Ser1219=)
|
rs1028539228
|
|
NM_001142800.2(EYS):c.3657G>C (p.Ser1219=)
|
|
|
NM_001142800.2(EYS):c.3657G>T (p.Ser1219=)
|
rs1028539228
|
|
NM_001142800.2(EYS):c.365A>T (p.Asp122Val)
|
|
|
NM_001142800.2(EYS):c.3661T>G (p.Cys1221Gly)
|
rs572419710
|
|
NM_001142800.2(EYS):c.3663T>C (p.Cys1221=)
|
|
|
NM_001142800.2(EYS):c.3676G>T (p.Gly1226Ter)
|
rs1405658671
|
|
NM_001142800.2(EYS):c.3684+11C>T
|
|
|
NM_001142800.2(EYS):c.3684+13G>A
|
|
|
NM_001142800.2(EYS):c.3684+17G>A
|
|
|
NM_001142800.2(EYS):c.3684+1G>A
|
|
|
NM_001142800.2(EYS):c.3684+9T>G
|
|
|
NM_001142800.2(EYS):c.3685-11G>A
|
|
|
NM_001142800.2(EYS):c.3685-15_3685-10del
|
rs1562081588
|
|
NM_001142800.2(EYS):c.3685-20A>G
|
|
|
NM_001142800.2(EYS):c.3685-5T>C
|
|
|
NM_001142800.2(EYS):c.3685-7T>C
|
rs2149833446
|
|
NM_001142800.2(EYS):c.3690C>T (p.Cys1230=)
|
rs886061678
|
|
NM_001142800.2(EYS):c.3695T>A (p.Ile1232Asn)
|
|
|
NM_001142800.2(EYS):c.3699del (p.Leu1234fs)
|
rs1318739667
|
|
NM_001142800.2(EYS):c.3703C>G (p.Leu1235Val)
|
rs1452073359
|
|
NM_001142800.2(EYS):c.3709G>C (p.Gly1237Arg)
|
rs1383398602
|
|
NM_001142800.2(EYS):c.3714T>C (p.Asp1238=)
|
rs1766469574
|
|
NM_001142800.2(EYS):c.3715G>A (p.Glu1239Lys)
|
|
|
NM_001142800.2(EYS):c.3723G>A (p.Arg1241=)
|
|
|
NM_001142800.2(EYS):c.3723_3725del (p.Arg1242del)
|
|
|
NM_001142800.2(EYS):c.3732C>G (p.Thr1244=)
|
|
|
NM_001142800.2(EYS):c.3732C>T (p.Thr1244=)
|
|
|
NM_001142800.2(EYS):c.3735T>C (p.Cys1245=)
|
rs1455066892
|
|
NM_001142800.2(EYS):c.3736T>C (p.Leu1246=)
|
rs2149833381
|
|
NM_001142800.2(EYS):c.3737T>C (p.Leu1246Ser)
|
rs1766468940
|
|
NM_001142800.2(EYS):c.3744C>A (p.Pro1248=)
|
rs899139223
|
|
NM_001142800.2(EYS):c.3744C>G (p.Pro1248=)
|
rs899139223
|
|
NM_001142800.2(EYS):c.3747C>A (p.Ile1249=)
|
|
|
NM_001142800.2(EYS):c.3768T>A (p.Ile1256=)
|
|
|
NM_001142800.2(EYS):c.3768_3769dup (p.Ser1257fs)
|
rs2149833352
|
|
NM_001142800.2(EYS):c.3774A>G (p.Thr1258=)
|
|
|
NM_001142800.2(EYS):c.3775C>T (p.Gln1259Ter)
|
rs1291867456
|
|
NM_001142800.2(EYS):c.3779C>T (p.Thr1260Ile)
|
rs759438157
|
|
NM_001142800.2(EYS):c.3780A>G (p.Thr1260=)
|
rs1445580996
|
|
NM_001142800.2(EYS):c.3783T>C (p.Tyr1261=)
|
|
|
NM_001142800.2(EYS):c.3783_3784del (p.Thr1262fs)
|
rs2149833339
|
|
NM_001142800.2(EYS):c.3786_3787delinsTG (p.Ile1263Val)
|
|
|
NM_001142800.2(EYS):c.3789T>C (p.Ile1263=)
|
|
|
NM_001142800.2(EYS):c.3789dup (p.Pro1264fs)
|
|
|
NM_001142800.2(EYS):c.3792C>G (p.Pro1264=)
|
rs551318605
|
|
NM_001142800.2(EYS):c.3799G>A (p.Glu1267Lys)
|
rs1704195448
|
|
NM_001142800.2(EYS):c.3799G>T (p.Glu1267Ter)
|
rs1704195448
|
|
NM_001142800.2(EYS):c.3809T>A (p.Val1270Asp)
|
rs368856942
|
|
NM_001142800.2(EYS):c.3810C>A (p.Val1270=)
|
|
|
NM_001142800.2(EYS):c.381C>T (p.Gly127=)
|
|
|
NM_001142800.2(EYS):c.3822A>G (p.Pro1274=)
|
rs924477825
|
|
NM_001142800.2(EYS):c.3825T>A (p.Ser1275=)
|
|
|
NM_001142800.2(EYS):c.3828A>T (p.Ile1276=)
|
|
|
NM_001142800.2(EYS):c.3829A>C (p.Lys1277Gln)
|
|
|
NM_001142800.2(EYS):c.3833C>T (p.Ala1278Val)
|
rs2149833286
|
|
NM_001142800.2(EYS):c.3845C>T (p.Pro1282Leu)
|
|
|
NM_001142800.2(EYS):c.384C>T (p.Cys128=)
|
rs755799753
|
|
NM_001142800.2(EYS):c.3859A>G (p.Thr1287Ala)
|
rs1766463376
|
|
NM_001142800.2(EYS):c.3862dup (p.Tyr1288fs)
|
rs2149833264
|
|
NM_001142800.2(EYS):c.3864C>T (p.Tyr1288=)
|
|
|
NM_001142800.2(EYS):c.386G>C (p.Arg129Thr)
|
rs1224551754
|
|
NM_001142800.2(EYS):c.3874C>T (p.Gln1292Ter)
|
|
|
NM_001142800.2(EYS):c.3877+11G>A
|
|
|
NM_001142800.2(EYS):c.3877+11G>T
|
|
|
NM_001142800.2(EYS):c.3877+12T>A
|
|
|
NM_001142800.2(EYS):c.3877+15G>A
|
rs1179872325
|
|
NM_001142800.2(EYS):c.3877+15_3877+19del
|
|
|
NM_001142800.2(EYS):c.3877+18_3877+22del
|
rs139235690
|
|
NM_001142800.2(EYS):c.3877+1G>T
|
|
|
NM_001142800.2(EYS):c.3877+8G>A
|
|
|
NM_001142800.2(EYS):c.3878-12dup
|
|
|
NM_001142800.2(EYS):c.3878-16T>A
|
|
|
NM_001142800.2(EYS):c.3878-5T>C
|
|
|
NM_001142800.2(EYS):c.3878G>A (p.Gly1293Asp)
|
rs763158109
|
|
NM_001142800.2(EYS):c.387A>G (p.Arg129=)
|
rs751895367
|
|
NM_001142800.2(EYS):c.3881C>T (p.Pro1294Leu)
|
|
|
NM_001142800.2(EYS):c.3886C>T (p.Gln1296Ter)
|
|
|
NM_001142800.2(EYS):c.3889A>G (p.Thr1297Ala)
|
rs1766427477
|
|
NM_001142800.2(EYS):c.3889A>T (p.Thr1297Ser)
|
|
|
NM_001142800.2(EYS):c.3889_3892del (p.Thr1297fs)
|
rs1766427315
|
|
NM_001142800.2(EYS):c.3890C>T (p.Thr1297Ile)
|
rs1766427401
|
|
NM_001142800.2(EYS):c.3892G>C (p.Gly1298Arg)
|
|
|
NM_001142800.2(EYS):c.3894C>G (p.Gly1298=)
|
|
|
NM_001142800.2(EYS):c.3903del (p.Lys1301fs)
|
|
|
NM_001142800.2(EYS):c.3905A>G (p.His1302Arg)
|
rs886061676
|
|
NM_001142800.2(EYS):c.3906C>A (p.His1302Gln)
|
rs12663916
|
|
NM_001142800.2(EYS):c.3909C>T (p.Asp1303=)
|
|
|
NM_001142800.2(EYS):c.3924T>G (p.Thr1308=)
|
rs903929671
|
|
NM_001142800.2(EYS):c.3928T>C (p.Leu1310=)
|
rs2149832599
|
|
NM_001142800.2(EYS):c.3930G>A (p.Leu1310=)
|
|
|
NM_001142800.2(EYS):c.3939A>G (p.Leu1313=)
|
rs2149832584
|
|
NM_001142800.2(EYS):c.3941del (p.Arg1314fs)
|
|
|
NM_001142800.2(EYS):c.3946A>T (p.Ser1316Cys)
|
rs1766425225
|
|
NM_001142800.2(EYS):c.3951A>C (p.Thr1317=)
|
|
|
NM_001142800.2(EYS):c.3951_3952del (p.Pro1318fs)
|
rs1270740001
|
|
NM_001142800.2(EYS):c.3952C>T (p.Pro1318Ser)
|
rs1412164023
|
|
NM_001142800.2(EYS):c.3957G>A (p.Leu1319=)
|
|
|
NM_001142800.2(EYS):c.3959A>G (p.Glu1320Gly)
|
|
|
NM_001142800.2(EYS):c.3968T>G (p.Leu1323Ter)
|
|
|
NM_001142800.2(EYS):c.3972_3973delinsTG (p.Gln1325Glu)
|
rs1766423595
|
|
NM_001142800.2(EYS):c.3972_3973inv (p.Gln1325Glu)
|
|
|
NM_001142800.2(EYS):c.3973C>A (p.Gln1325Lys)
|
rs12663622
|
|
NM_001142800.2(EYS):c.3978A>G (p.Glu1326=)
|
rs2149832547
|
|
NM_001142800.2(EYS):c.3987C>T (p.Val1329=)
|
rs2149832539
|
|
NM_001142800.2(EYS):c.4002A>G (p.Ser1334=)
|
rs1459942349
|
|
NM_001142800.2(EYS):c.400C>T (p.His134Tyr)
|
|
|
NM_001142800.2(EYS):c.4010A>G (p.His1337Arg)
|
rs1766422531
|
|
NM_001142800.2(EYS):c.4010A>T (p.His1337Leu)
|
|
|
NM_001142800.2(EYS):c.4011C>T (p.His1337=)
|
rs2149832524
|
|
NM_001142800.2(EYS):c.4011_4012del (p.His1337fs)
|
rs2149832523
|
|
NM_001142800.2(EYS):c.4013G>A (p.Ser1338Asn)
|
|
|
NM_001142800.2(EYS):c.4015C>A (p.Leu1339Ile)
|
rs1325494721
|
|
NM_001142800.2(EYS):c.4023T>C (p.Ser1341=)
|
|
|
NM_001142800.2(EYS):c.4032T>C (p.Asp1344=)
|
|
|
NM_001142800.2(EYS):c.4037C>G (p.Ser1346Cys)
|
|
|
NM_001142800.2(EYS):c.403_404del (p.Thr135fs)
|
rs2127271339
|
|
NM_001142800.2(EYS):c.403_423delinsCTTTT (p.Thr135fs)
|
rs1582376398
|
|
NM_001142800.2(EYS):c.4041T>A (p.Ser1347=)
|
rs2149832494
|
|
NM_001142800.2(EYS):c.4043C>T (p.Ser1348Phe)
|
|
|
NM_001142800.2(EYS):c.4056T>C (p.Asn1352=)
|
|
|
NM_001142800.2(EYS):c.405T>C (p.Thr135=)
|
|
|
NM_001142800.2(EYS):c.4061G>T (p.Gly1354Val)
|
rs1766421024
|
|
NM_001142800.2(EYS):c.4065T>C (p.Ile1355=)
|
rs1408746266
|
|
NM_001142800.2(EYS):c.4066C>T (p.Arg1356Cys)
|
|
|
NM_001142800.2(EYS):c.4069G>T (p.Asp1357Tyr)
|
|
|
NM_001142800.2(EYS):c.4071C>T (p.Asp1357=)
|
|
|
NM_001142800.2(EYS):c.4074A>C (p.Pro1358=)
|
|
|
NM_001142800.2(EYS):c.4077del (p.Gln1360fs)
|
|
|
NM_001142800.2(EYS):c.4078C>T (p.Gln1360Ter)
|
|
|
NM_001142800.2(EYS):c.4080A>G (p.Gln1360=)
|
rs2149832467
|
|
NM_001142800.2(EYS):c.4083T>G (p.Ile1361Met)
|
|
|
NM_001142800.2(EYS):c.4086C>A (p.Val1362=)
|
rs1766419897
|
|
NM_001142800.2(EYS):c.4088A>G (p.Gln1363Arg)
|
|
|
NM_001142800.2(EYS):c.4093A>C (p.Lys1365Gln)
|
rs16895519
|
|
NM_001142800.2(EYS):c.409A>G (p.Asn137Asp)
|
|
|
NM_001142800.2(EYS):c.40T>C (p.Phe14Leu)
|
rs1766219715
|
|
NM_001142800.2(EYS):c.4103dup (p.Ser1369fs)
|
|
|
NM_001142800.2(EYS):c.4106C>T (p.Ser1369Leu)
|
rs769949135
|
|
NM_001142800.2(EYS):c.4116_4117insGC (p.Ile1373fs)
|
rs1582930536
|
|
NM_001142800.2(EYS):c.4135A>G (p.Thr1379Ala)
|
|
|
NM_001142800.2(EYS):c.4137A>G (p.Thr1379=)
|
|
|
NM_001142800.2(EYS):c.4140A>G (p.Leu1380=)
|
|
|
NM_001142800.2(EYS):c.4141G>A (p.Gly1381Ser)
|
rs1758206278
|
|
NM_001142800.2(EYS):c.414dup (p.Lys139Ter)
|
|
|
NM_001142800.2(EYS):c.4150T>A (p.Phe1384Ile)
|
|
|
NM_001142800.2(EYS):c.4152dup (p.Pro1385fs)
|
rs1185686653
|
|
NM_001142800.2(EYS):c.4154_4155del (p.Pro1385fs)
|
rs1766416713
|
|
NM_001142800.2(EYS):c.4155T>G (p.Pro1385=)
|
|
|
NM_001142800.2(EYS):c.4164A>G (p.Arg1388=)
|
|
|
NM_001142800.2(EYS):c.4166C>A (p.Ala1389Glu)
|
|
|
NM_001142800.2(EYS):c.4170G>A (p.Arg1390=)
|
rs2149832372
|
|
NM_001142800.2(EYS):c.4176A>G (p.Pro1392=)
|
|
|
NM_001142800.2(EYS):c.417G>A (p.Lys139=)
|
|
|
NM_001142800.2(EYS):c.4180A>G (p.Ile1394Val)
|
|
|
NM_001142800.2(EYS):c.4195del (p.Met1399fs)
|
rs2149832355
|
|
NM_001142800.2(EYS):c.4196T>C (p.Met1399Thr)
|
|
|
NM_001142800.2(EYS):c.4200A>G (p.Ser1400=)
|
|
|
NM_001142800.2(EYS):c.4207del (p.Ile1403fs)
|
rs1766414666
|
|
NM_001142800.2(EYS):c.4209T>C (p.Ile1403=)
|
rs2149832344
|
|
NM_001142800.2(EYS):c.4217C>G (p.Thr1406Arg)
|
|
|
NM_001142800.2(EYS):c.4231T>C (p.Phe1411Leu)
|
|
|
NM_001142800.2(EYS):c.4233del (p.Phe1411fs)
|
|
|
NM_001142800.2(EYS):c.4239C>T (p.Asn1413=)
|
rs2149832318
|
|
NM_001142800.2(EYS):c.423G>A (p.Leu141=)
|
|
|
NM_001142800.2(EYS):c.4240T>C (p.Cys1414Arg)
|
|
|
NM_001142800.2(EYS):c.4245G>A (p.Gln1415=)
|
rs375166229
|
|
NM_001142800.2(EYS):c.4251T>C (p.Val1417=)
|
|
|
NM_001142800.2(EYS):c.4252G>C (p.Ala1418Pro)
|
rs1766413211
|
|
NM_001142800.2(EYS):c.4253del (p.Ala1418fs)
|
|
|
NM_001142800.2(EYS):c.4256_4257delinsCC (p.Leu1419Ser)
|
rs2149832303
|
|
NM_001142800.2(EYS):c.4265C>T (p.Thr1422Ile)
|
|
|
NM_001142800.2(EYS):c.4266C>T (p.Thr1422=)
|
|
|
NM_001142800.2(EYS):c.4267C>T (p.Pro1423Ser)
|
rs763400165
|
|
NM_001142800.2(EYS):c.4271C>G (p.Thr1424Arg)
|
|
|
NM_001142800.2(EYS):c.4272G>A (p.Thr1424=)
|
|
|
NM_001142800.2(EYS):c.4272G>C (p.Thr1424=)
|
|
|
NM_001142800.2(EYS):c.4272G>T (p.Thr1424=)
|
|
|
NM_001142800.2(EYS):c.4275T>G (p.Thr1425=)
|
|
|
NM_001142800.2(EYS):c.4278A>G (p.Ser1426=)
|
|
|
NM_001142800.2(EYS):c.4281A>G (p.Val1427=)
|
rs2149832278
|
|
NM_001142800.2(EYS):c.4287A>G (p.Arg1429=)
|
|
|
NM_001142800.2(EYS):c.4294C>A (p.Pro1432Thr)
|
|
|
NM_001142800.2(EYS):c.4304A>G (p.Asp1435Gly)
|
rs2149832253
|
|
NM_001142800.2(EYS):c.4308T>C (p.Ile1436=)
|
rs1402137490
|
|
NM_001142800.2(EYS):c.4309G>T (p.Glu1437Ter)
|
|
|
NM_001142800.2(EYS):c.4311G>A (p.Glu1437=)
|
rs2149832248
|
|
NM_001142800.2(EYS):c.4311G>T (p.Glu1437Asp)
|
|
|
NM_001142800.2(EYS):c.4316del (p.Asn1439fs)
|
|
|
NM_001142800.2(EYS):c.4318A>C (p.Arg1440=)
|
rs1582930168
|
|
NM_001142800.2(EYS):c.4320G>A (p.Arg1440=)
|
rs1562080243
|
|
NM_001142800.2(EYS):c.4321C>T (p.Gln1441Ter)
|
rs1766410692
|
|
NM_001142800.2(EYS):c.4326A>G (p.Ser1442=)
|
rs1340543682
|
|
NM_001142800.2(EYS):c.432G>A (p.Gly144=)
|
rs1419032489
|
|
NM_001142800.2(EYS):c.4332C>T (p.Leu1444=)
|
|
|
NM_001142800.2(EYS):c.4337G>T (p.Arg1446Leu)
|
rs562707818
|
|
NM_001142800.2(EYS):c.4341A>T (p.Gly1447=)
|
|
|
NM_001142800.2(EYS):c.4344C>T (p.Phe1448=)
|
|
|
NM_001142800.2(EYS):c.4350T>C (p.Leu1450=)
|
|
|
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs)
|
rs761238771
|
|
NM_001142800.2(EYS):c.4362C>T (p.Ser1454=)
|
|
|
NM_001142800.2(EYS):c.4371A>T (p.Ala1457=)
|
|
|
NM_001142800.2(EYS):c.4373C>G (p.Thr1458Ser)
|
|
|
NM_001142800.2(EYS):c.4377A>G (p.Pro1459=)
|
rs987258143
|
|
NM_001142800.2(EYS):c.4380T>A (p.Val1460=)
|
rs1766408641
|
|
NM_001142800.2(EYS):c.4383C>T (p.Val1461=)
|
|
|
NM_001142800.2(EYS):c.4386_4387insGCCT (p.Arg1463delinsAlaTer)
|
|
|
NM_001142800.2(EYS):c.4387A>C (p.Arg1463=)
|
|
|
NM_001142800.2(EYS):c.4389G>A (p.Arg1463=)
|
rs758077611
|
|
NM_001142800.2(EYS):c.4390_4391insA (p.Gly1464fs)
|
|
|
NM_001142800.2(EYS):c.4392G>C (p.Gly1464=)
|
|
|
NM_001142800.2(EYS):c.4392_4393del (p.Ala1465fs)
|
|
|
NM_001142800.2(EYS):c.4393G>A (p.Ala1465Thr)
|
rs747921119
|
|
NM_001142800.2(EYS):c.4393G>T (p.Ala1465Ser)
|
rs747921119
|
|
NM_001142800.2(EYS):c.4393dup (p.Ala1465fs)
|
rs750840208
|
|
NM_001142800.2(EYS):c.4394C>A (p.Ala1465Asp)
|
|
|
NM_001142800.2(EYS):c.4397A>G (p.Gln1466Arg)
|
|
|
NM_001142800.2(EYS):c.4402G>T (p.Asp1468Tyr)
|
rs778752557
|
|
NM_001142800.2(EYS):c.4403A>G (p.Asp1468Gly)
|
rs2149832138
|
|
NM_001142800.2(EYS):c.4406T>C (p.Ile1469Thr)
|
|
|
NM_001142800.2(EYS):c.4409A>T (p.Glu1470Val)
|
rs555692190
|
|
NM_001142800.2(EYS):c.4413A>G (p.Glu1471=)
|
|
|
NM_001142800.2(EYS):c.4419A>C (p.Ser1473=)
|
rs1582929949
|
|
NM_001142800.2(EYS):c.4422T>A (p.Ala1474=)
|
|
|
NM_001142800.2(EYS):c.4422T>C (p.Ala1474=)
|
rs2149832114
|
|
NM_001142800.2(EYS):c.4425T>C (p.Asp1475=)
|
|
|
NM_001142800.2(EYS):c.4434T>A (p.Ile1478=)
|
|
|
NM_001142800.2(EYS):c.4446G>A (p.Glu1482=)
|
|
|
NM_001142800.2(EYS):c.4450T>C (p.Trp1484Arg)
|
|
|
NM_001142800.2(EYS):c.4451G>T (p.Trp1484Leu)
|
|
|
NM_001142800.2(EYS):c.4455A>G (p.Arg1485=)
|
rs755759273
|
|
NM_001142800.2(EYS):c.4458G>A (p.Leu1486=)
|
rs2149832091
|
|
NM_001142800.2(EYS):c.445dup (p.Ile149fs)
|
|
|
NM_001142800.2(EYS):c.4461C>G (p.Leu1487=)
|
rs2149832090
|
|
NM_001142800.2(EYS):c.4464C>T (p.Ser1488=)
|
|
|
NM_001142800.2(EYS):c.4465C>T (p.Pro1489Ser)
|
|
|
NM_001142800.2(EYS):c.4469C>T (p.Ser1490Leu)
|
|
|
NM_001142800.2(EYS):c.4470G>A (p.Ser1490=)
|
|
|
NM_001142800.2(EYS):c.4470G>T (p.Ser1490=)
|
rs767213595
|
|
NM_001142800.2(EYS):c.4473G>A (p.Met1491Ile)
|
|
|
NM_001142800.2(EYS):c.4477C>A (p.Pro1493Thr)
|
rs2149832076
|
|
NM_001142800.2(EYS):c.4482T>A (p.Ile1494=)
|
|
|
NM_001142800.2(EYS):c.4495G>A (p.Val1499Ile)
|
|
|
NM_001142800.2(EYS):c.4502T>C (p.Ile1501Thr)
|
|
|
NM_001142800.2(EYS):c.450A>G (p.Thr150=)
|
rs2127271277
|
|
NM_001142800.2(EYS):c.4510C>G (p.Gln1504Glu)
|
|
|
NM_001142800.2(EYS):c.4515A>G (p.Val1505=)
|
|
|
NM_001142800.2(EYS):c.4518C>G (p.Thr1506=)
|
rs762462334
|
|
NM_001142800.2(EYS):c.4523T>G (p.Leu1508Ter)
|
|
|
NM_001142800.2(EYS):c.4527C>T (p.Asn1509=)
|
|
|
NM_001142800.2(EYS):c.4530A>C (p.Ser1510=)
|
|
|
NM_001142800.2(EYS):c.4530A>G (p.Ser1510=)
|
rs1582929801
|
|
NM_001142800.2(EYS):c.4530A>T (p.Ser1510=)
|
rs1582929801
|
|
NM_001142800.2(EYS):c.4536T>C (p.Ala1512=)
|
rs2149832024
|
|
NM_001142800.2(EYS):c.4537C>T (p.Leu1513=)
|
|
|
NM_001142800.2(EYS):c.453T>C (p.Val151=)
|
|
|
NM_001142800.2(EYS):c.4543C>A (p.Arg1515=)
|
|
|
NM_001142800.2(EYS):c.4545G>C (p.Arg1515=)
|
|
|
NM_001142800.2(EYS):c.4545G>T (p.Arg1515=)
|
|
|
NM_001142800.2(EYS):c.454dup (p.Met152fs)
|
rs1766191833
|
|
NM_001142800.2(EYS):c.4554A>G (p.Thr1518=)
|
|
|
NM_001142800.2(EYS):c.4557del (p.Ala1520fs)
|
rs768092887
|
|
NM_001142800.2(EYS):c.4559C>A (p.Ala1520Asp)
|
|
|
NM_001142800.2(EYS):c.4568C>T (p.Pro1523Leu)
|
rs2149831989
|
|
NM_001142800.2(EYS):c.4569C>G (p.Pro1523=)
|
|
|
NM_001142800.2(EYS):c.4579C>T (p.Gln1527Ter)
|
rs1490143139
|
|
NM_001142800.2(EYS):c.4594G>C (p.Ala1532Pro)
|
rs2149831967
|
|
NM_001142800.2(EYS):c.4598C>T (p.Ser1533Leu)
|
rs1766401076
|
|
NM_001142800.2(EYS):c.4603A>C (p.Asn1535His)
|
rs2149831955
|
|
NM_001142800.2(EYS):c.4605C>G (p.Asn1535Lys)
|
rs2149831954
|
|
NM_001142800.2(EYS):c.4606C>A (p.Gln1536Lys)
|
rs557152369
|
|
NM_001142800.2(EYS):c.4606C>T (p.Gln1536Ter)
|
rs557152369
|
|
NM_001142800.2(EYS):c.4607A>G (p.Gln1536Arg)
|
rs528387472
|
|
NM_001142800.2(EYS):c.4610_4611del (p.Arg1537fs)
|
rs886042613
|
|
NM_001142800.2(EYS):c.4613_4616del (p.Leu1538fs)
|
rs1582929649
|
|
NM_001142800.2(EYS):c.4615dup (p.Thr1539fs)
|
|
|
NM_001142800.2(EYS):c.4620C>T (p.Asn1540=)
|
|
|
NM_001142800.2(EYS):c.4624A>G (p.Lys1542Glu)
|
|
|
NM_001142800.2(EYS):c.4626A>G (p.Lys1542=)
|
|
|
NM_001142800.2(EYS):c.4635T>A (p.Ala1545=)
|
rs1766399245
|
|
NM_001142800.2(EYS):c.4639G>T (p.Asp1547Tyr)
|
rs2149831943
|
|
NM_001142800.2(EYS):c.463G>A (p.Gly155Ser)
|
|
|
NM_001142800.2(EYS):c.4641T>C (p.Asp1547=)
|
rs1766398892
|
|
NM_001142800.2(EYS):c.4654T>C (p.Leu1552=)
|
|
|
NM_001142800.2(EYS):c.4655T>G (p.Leu1552Ter)
|
rs1054515897
|
|
NM_001142800.2(EYS):c.4660C>G (p.Gln1554Glu)
|
|
|
NM_001142800.2(EYS):c.4665_4666del (p.Ala1557fs)
|
|
|
NM_001142800.2(EYS):c.4674A>T (p.Thr1558=)
|
|
|
NM_001142800.2(EYS):c.4690A>G (p.Ile1564Val)
|
|
|
NM_001142800.2(EYS):c.4698C>G (p.Ser1566=)
|
|
|
NM_001142800.2(EYS):c.4702C>T (p.Arg1568Cys)
|
|
|
NM_001142800.2(EYS):c.4703G>A (p.Arg1568His)
|
|
|
NM_001142800.2(EYS):c.4704T>C (p.Arg1568=)
|
rs2149831899
|
|
NM_001142800.2(EYS):c.4706A>G (p.Glu1569Gly)
|
rs2149831897
|
|
NM_001142800.2(EYS):c.4707A>T (p.Glu1569Asp)
|
|
|
NM_001142800.2(EYS):c.4717C>G (p.Gln1573Glu)
|
|
|
NM_001142800.2(EYS):c.4721T>C (p.Val1574Ala)
|
rs1766395456
|
|
NM_001142800.2(EYS):c.4723T>G (p.Leu1575Val)
|
rs765741480
|
|
NM_001142800.2(EYS):c.4728T>C (p.His1576=)
|
|
|
NM_001142800.2(EYS):c.4734A>G (p.Lys1578=)
|
|
|
NM_001142800.2(EYS):c.4736A>T (p.Gln1579Leu)
|
rs940478851
|
|
NM_001142800.2(EYS):c.4739C>T (p.Ser1580Phe)
|
rs1766393484
|
|
NM_001142800.2(EYS):c.473C>T (p.Pro158Leu)
|
|
|
NM_001142800.2(EYS):c.4747T>C (p.Tyr1583His)
|
|
|
NM_001142800.2(EYS):c.4755A>T (p.Thr1585=)
|
|
|
NM_001142800.2(EYS):c.4759T>C (p.Trp1587Arg)
|
|
|
NM_001142800.2(EYS):c.4760G>A (p.Trp1587Ter)
|
rs2149831862
|
|
NM_001142800.2(EYS):c.4761del (p.Phe1586_Trp1587insTer)
|
|
|
NM_001142800.2(EYS):c.4766A>T (p.Asn1589Ile)
|
|
|
NM_001142800.2(EYS):c.4767C>T (p.Asn1589=)
|
|
|
NM_001142800.2(EYS):c.4770A>G (p.Ser1590=)
|
rs2149831853
|
|
NM_001142800.2(EYS):c.4776_4779del (p.Ile1592fs)
|
|
|
NM_001142800.2(EYS):c.4788G>A (p.Trp1596Ter)
|
|
|
NM_001142800.2(EYS):c.478C>G (p.Pro160Ala)
|
|
|
NM_001142800.2(EYS):c.478_479delinsTT (p.Pro160Leu)
|
rs2127271211
|
|
NM_001142800.2(EYS):c.4802G>C (p.Gly1601Ala)
|
|
|
NM_001142800.2(EYS):c.4806T>C (p.Ala1602=)
|
rs1582929404
|
|
NM_001142800.2(EYS):c.4809A>G (p.Gln1603=)
|
|
|
NM_001142800.2(EYS):c.480A>C (p.Pro160=)
|
rs1766190002
|
|
NM_001142800.2(EYS):c.4813_4814delinsGC (p.Ile1605Ala)
|
rs2149831817
|
|
NM_001142800.2(EYS):c.4815C>T (p.Ile1605=)
|
rs2149831812
|
|
NM_001142800.2(EYS):c.4817C>A (p.Thr1606Asn)
|
rs1582929370
|
|
NM_001142800.2(EYS):c.4824G>A (p.Gly1608=)
|
rs1766390148
|
|
NM_001142800.2(EYS):c.4827T>C (p.His1609=)
|
rs2149831801
|
|
NM_001142800.2(EYS):c.4829_4832del (p.Ser1610fs)
|
rs886044304
|
|
NM_001142800.2(EYS):c.4836T>C (p.Ser1612=)
|
rs1722273708
|
|
NM_001142800.2(EYS):c.483G>A (p.Leu161=)
|
rs748763208
|
|
NM_001142800.2(EYS):c.483G>T (p.Leu161=)
|
rs748763208
|
|
NM_001142800.2(EYS):c.4841_4863del (p.Ala1614fs)
|
rs2149831757
|
|
NM_001142800.2(EYS):c.4849A>G (p.Ile1617Val)
|
rs551487472
|
|
NM_001142800.2(EYS):c.4853C>A (p.Thr1618Lys)
|
rs1380829897
|
|
NM_001142800.2(EYS):c.4859_4862del (p.Ser1620fs)
|
rs1242324755
|
|
NM_001142800.2(EYS):c.4862T>A (p.Val1621Glu)
|
rs2149831762
|
|
NM_001142800.2(EYS):c.4867T>A (p.Phe1623Ile)
|
|
|
NM_001142800.2(EYS):c.4878G>T (p.Val1626=)
|
|
|
NM_001142800.2(EYS):c.4880C>T (p.Pro1627Leu)
|
|
|
NM_001142800.2(EYS):c.4881A>G (p.Pro1627=)
|
rs1181834932
|
|
NM_001142800.2(EYS):c.4883C>T (p.Ser1628Phe)
|
rs1204019770
|
|
NM_001142800.2(EYS):c.4897A>G (p.Lys1633Glu)
|
|
|
NM_001142800.2(EYS):c.48C>T (p.Ser16=)
|
|
|
NM_001142800.2(EYS):c.4902G>A (p.Lys1634=)
|
rs2149831717
|
|
NM_001142800.2(EYS):c.4905T>C (p.Ser1635=)
|
rs1766387542
|
|
NM_001142800.2(EYS):c.4908A>G (p.Ala1636=)
|
rs1582929196
|
|
NM_001142800.2(EYS):c.4908A>T (p.Ala1636=)
|
rs1582929196
|
|
NM_001142800.2(EYS):c.4914A>G (p.Arg1638=)
|
|
|
NM_001142800.2(EYS):c.4927T>G (p.Ser1643Ala)
|
|
|
NM_001142800.2(EYS):c.492_499del (p.Leu165fs)
|
rs1270977202
|
|
NM_001142800.2(EYS):c.4935G>A (p.Leu1645=)
|
|
|
NM_001142800.2(EYS):c.4941A>C (p.Glu1647Asp)
|
rs1361251812
|
|
NM_001142800.2(EYS):c.4943C>A (p.Ser1648Tyr)
|
|
|
NM_001142800.2(EYS):c.4950C>T (p.Thr1650=)
|
|
|
NM_001142800.2(EYS):c.4951C>T (p.Leu1651=)
|
rs1766386079
|
|
NM_001142800.2(EYS):c.4951del (p.Leu1651fs)
|
|
|
NM_001142800.2(EYS):c.4953A>G (p.Leu1651=)
|
|
|
NM_001142800.2(EYS):c.4953A>T (p.Leu1651=)
|
rs1409807397
|
|
NM_001142800.2(EYS):c.4955C>A (p.Ser1652Ter)
|
rs909730457
|
|
NM_001142800.2(EYS):c.4955C>T (p.Ser1652Leu)
|
rs909730457
|
|
NM_001142800.2(EYS):c.4957A>C (p.Ser1653Arg)
|
rs1182227113
|
|
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs)
|
rs527236065
|
|
NM_001142800.2(EYS):c.4967A>G (p.Asp1656Gly)
|
|
|
NM_001142800.2(EYS):c.4968T>C (p.Asp1656=)
|
rs2149831653
|
|
NM_001142800.2(EYS):c.4971T>A (p.Val1657=)
|
|
|
NM_001142800.2(EYS):c.4971T>C (p.Val1657=)
|
|
|
NM_001142800.2(EYS):c.4972A>G (p.Asn1658Asp)
|
rs1766385108
|
|
NM_001142800.2(EYS):c.4975T>C (p.Leu1659=)
|
|
|
NM_001142800.2(EYS):c.4976T>A (p.Leu1659Ter)
|
|
|
NM_001142800.2(EYS):c.4976T>G (p.Leu1659Ter)
|
|
|
NM_001142800.2(EYS):c.4977A>G (p.Leu1659=)
|
|
|
NM_001142800.2(EYS):c.4985A>G (p.Asp1662Gly)
|
|
|
NM_001142800.2(EYS):c.4987_4990dup (p.Thr1664fs)
|
|
|
NM_001142800.2(EYS):c.4989G>A (p.Lys1663=)
|
|
|
NM_001142800.2(EYS):c.498T>C (p.Asn166=)
|
|
|
NM_001142800.2(EYS):c.4992T>G (p.Thr1664=)
|
rs2149831622
|
|
NM_001142800.2(EYS):c.4997del (p.Leu1666fs)
|
|
|
NM_001142800.2(EYS):c.4999T>A (p.Ser1667Thr)
|
|
|
NM_001142800.2(EYS):c.5007C>G (p.Val1669=)
|
|
|
NM_001142800.2(EYS):c.5007C>T (p.Val1669=)
|
|
|
NM_001142800.2(EYS):c.500T>A (p.Val167Glu)
|
|
|
NM_001142800.2(EYS):c.5010T>G (p.Pro1670=)
|
|
|
NM_001142800.2(EYS):c.5012C>A (p.Ser1671Ter)
|
|
|
NM_001142800.2(EYS):c.5033T>A (p.Leu1678Ter)
|
|
|
NM_001142800.2(EYS):c.503C>T (p.Thr168Ile)
|
rs1169272650
|
|
NM_001142800.2(EYS):c.504A>C (p.Thr168=)
|
|
|
NM_001142800.2(EYS):c.504A>G (p.Thr168=)
|
|
|
NM_001142800.2(EYS):c.5054C>T (p.Ser1685Leu)
|
|
|
NM_001142800.2(EYS):c.5055A>C (p.Ser1685=)
|
|
|
NM_001142800.2(EYS):c.5056A>G (p.Lys1686Glu)
|
rs1562079432
|
|
NM_001142800.2(EYS):c.505G>A (p.Val169Met)
|
|
|
NM_001142800.2(EYS):c.5067T>G (p.Thr1689=)
|
rs2149831524
|
|
NM_001142800.2(EYS):c.5084C>G (p.Ser1695Ter)
|
|
|
NM_001142800.2(EYS):c.5087A>C (p.Glu1696Ala)
|
rs1766380689
|
|
NM_001142800.2(EYS):c.5091C>T (p.Asn1697=)
|
|
|
NM_001142800.2(EYS):c.5106G>A (p.Leu1702=)
|
|
|
NM_001142800.2(EYS):c.5110dup (p.Ile1704fs)
|
rs2149831487
|
|
NM_001142800.2(EYS):c.5115A>G (p.Arg1705=)
|
|
|
NM_001142800.2(EYS):c.5116C>A (p.Gln1706Lys)
|
|
|
NM_001142800.2(EYS):c.5118A>G (p.Gln1706=)
|
|
|
NM_001142800.2(EYS):c.5124C>A (p.Gly1708=)
|
rs2149831473
|
|
NM_001142800.2(EYS):c.5124C>T (p.Gly1708=)
|
|
|
NM_001142800.2(EYS):c.5128A>T (p.Thr1710Ser)
|
rs947358402
|
|
NM_001142800.2(EYS):c.5133G>A (p.Met1711Ile)
|
rs545862713
|
|
NM_001142800.2(EYS):c.5139C>A (p.Pro1713=)
|
rs2149831456
|
|
NM_001142800.2(EYS):c.513G>A (p.Gln171=)
|
|
|
NM_001142800.2(EYS):c.5141C>T (p.Thr1714Ile)
|
rs1330663195
|
|
NM_001142800.2(EYS):c.5143G>A (p.Glu1715Lys)
|
rs2149831446
|
|
NM_001142800.2(EYS):c.5145G>T (p.Glu1715Asp)
|
|
|
NM_001142800.2(EYS):c.5148A>G (p.Val1716=)
|
|
|
NM_001142800.2(EYS):c.5149C>T (p.Leu1717=)
|
rs2149831439
|
|
NM_001142800.2(EYS):c.5149del (p.Val1716_Leu1717insTer)
|
rs1766378599
|
|
NM_001142800.2(EYS):c.5157A>G (p.Gln1719=)
|
|
|
NM_001142800.2(EYS):c.5163C>T (p.Ser1721=)
|
rs1766378243
|
|
NM_001142800.2(EYS):c.5168T>A (p.Leu1723Ter)
|
|
|
NM_001142800.2(EYS):c.5170G>A (p.Asp1724Asn)
|
|
|
NM_001142800.2(EYS):c.5172C>T (p.Asp1724=)
|
rs2149831415
|
|
NM_001142800.2(EYS):c.5176del (p.Glu1726fs)
|
|
|
NM_001142800.2(EYS):c.5182del (p.Ser1728fs)
|
rs1562079278
|
|
NM_001142800.2(EYS):c.5190A>T (p.Gly1730=)
|
|
|
NM_001142800.2(EYS):c.5201T>C (p.Leu1734Pro)
|
|
|
NM_001142800.2(EYS):c.5202G>A (p.Leu1734=)
|
|
|
NM_001142800.2(EYS):c.5202G>C (p.Leu1734=)
|
|
|
NM_001142800.2(EYS):c.5208A>T (p.Lys1736Asn)
|
rs973977663
|
|
NM_001142800.2(EYS):c.5223T>C (p.Asp1741=)
|
|
|
NM_001142800.2(EYS):c.5226T>C (p.Ser1742=)
|
rs2149831365
|
|
NM_001142800.2(EYS):c.5235T>C (p.Asp1745=)
|
|
|
NM_001142800.2(EYS):c.5238del (p.Phe1746fs)
|
|
|
NM_001142800.2(EYS):c.523C>T (p.Gln175Ter)
|
|
|
NM_001142800.2(EYS):c.5249T>A (p.Leu1750Ter)
|
rs1766374293
|
|
NM_001142800.2(EYS):c.5250A>G (p.Leu1750=)
|
|
|
NM_001142800.2(EYS):c.5251C>G (p.Gln1751Glu)
|
rs1766374212
|
|
NM_001142800.2(EYS):c.5251C>T (p.Gln1751Ter)
|
|
|
NM_001142800.2(EYS):c.5253A>G (p.Gln1751=)
|
|
|
NM_001142800.2(EYS):c.5256T>C (p.Ile1752=)
|
|
|
NM_001142800.2(EYS):c.525_527del (p.Glu176del)
|
rs780433094
|
|
NM_001142800.2(EYS):c.5261C>T (p.Pro1754Leu)
|
|
|
NM_001142800.2(EYS):c.5263G>A (p.Asp1755Asn)
|
rs772953910
|
|
NM_001142800.2(EYS):c.526G>T (p.Glu176Ter)
|
rs2127271139
|
|
NM_001142800.2(EYS):c.5271T>G (p.Thr1757=)
|
rs2149831315
|
|
NM_001142800.2(EYS):c.5272T>C (p.Leu1758=)
|
rs2149831311
|
|
NM_001142800.2(EYS):c.5280A>G (p.Thr1760=)
|
rs970771671
|
|
NM_001142800.2(EYS):c.5283T>A (p.Tyr1761Ter)
|
rs1158231145
|
|
NM_001142800.2(EYS):c.5283T>C (p.Tyr1761=)
|
|
|
NM_001142800.2(EYS):c.5286A>C (p.Ser1762=)
|
rs2149831292
|
|
NM_001142800.2(EYS):c.5290dup (p.Ile1764fs)
|
rs761760327
|
|
NM_001142800.2(EYS):c.5292T>C (p.Ile1764=)
|
|
|
NM_001142800.2(EYS):c.5293A>G (p.Thr1765Ala)
|
|
|
NM_001142800.2(EYS):c.5296del (p.His1766fs)
|
rs2149831278
|
|
NM_001142800.2(EYS):c.5301A>G (p.Ala1767=)
|
rs1255332839
|
|
NM_001142800.2(EYS):c.5303del (p.Asn1768fs)
|
|
|
NM_001142800.2(EYS):c.5322G>T (p.Leu1774=)
|
|
|
NM_001142800.2(EYS):c.5328A>G (p.Pro1776=)
|
rs1028791002
|
|
NM_001142800.2(EYS):c.5330T>A (p.Leu1777Ter)
|
|
|
NM_001142800.2(EYS):c.5333C>T (p.Thr1778Ile)
|
rs566440637
|
|
NM_001142800.2(EYS):c.533dup (p.Ser179fs)
|
rs2127271125
|
|
NM_001142800.2(EYS):c.5353dup (p.Ser1785fs)
|
|
|
NM_001142800.2(EYS):c.5354C>T (p.Ser1785Leu)
|
rs1053044454
|
|
NM_001142800.2(EYS):c.5356G>A (p.Glu1786Lys)
|
|
|
NM_001142800.2(EYS):c.5363C>T (p.Thr1788Ile)
|
|
|
NM_001142800.2(EYS):c.5364C>T (p.Thr1788=)
|
rs1766369813
|
|
NM_001142800.2(EYS):c.5366C>T (p.Thr1789Ile)
|
rs2149831184
|
|
NM_001142800.2(EYS):c.5373T>C (p.Val1791=)
|
rs1766369566
|
|
NM_001142800.2(EYS):c.5374G>C (p.Ala1792Pro)
|
rs901144230
|
|
NM_001142800.2(EYS):c.5383A>G (p.Thr1795Ala)
|
|
|
NM_001142800.2(EYS):c.5385A>G (p.Thr1795=)
|
rs1356724686
|
|
NM_001142800.2(EYS):c.5387T>A (p.Val1796Asp)
|
|
|
NM_001142800.2(EYS):c.5388T>C (p.Val1796=)
|
|
|
NM_001142800.2(EYS):c.5397T>G (p.Thr1799=)
|
|
|
NM_001142800.2(EYS):c.5399C>T (p.Pro1800Leu)
|
|
|
NM_001142800.2(EYS):c.53T>C (p.Phe18Ser)
|
rs1766218722
|
|
NM_001142800.2(EYS):c.5400A>G (p.Pro1800=)
|
|
|
NM_001142800.2(EYS):c.5401G>A (p.Ala1801Thr)
|
rs751705317
|
|
NM_001142800.2(EYS):c.5403A>G (p.Ala1801=)
|
|
|
NM_001142800.2(EYS):c.540A>G (p.Ser180=)
|
rs954692499
|
|
NM_001142800.2(EYS):c.5414A>G (p.Gln1805Arg)
|
|
|
NM_001142800.2(EYS):c.5417C>T (p.Thr1806Met)
|
|
|
NM_001142800.2(EYS):c.5417del (p.Thr1806fs)
|
|
|
NM_001142800.2(EYS):c.5424C>T (p.Ser1808=)
|
|
|
NM_001142800.2(EYS):c.5427C>T (p.Ser1809=)
|
rs949145942
|
|
NM_001142800.2(EYS):c.5432C>A (p.Ser1811Tyr)
|
rs1766367191
|
|
NM_001142800.2(EYS):c.5437A>T (p.Ile1813Phe)
|
|
|
NM_001142800.2(EYS):c.5443C>A (p.Pro1815Thr)
|
|
|
NM_001142800.2(EYS):c.5448T>C (p.Asp1816=)
|
|
|
NM_001142800.2(EYS):c.5450G>A (p.Trp1817Ter)
|
rs983691310
|
|
NM_001142800.2(EYS):c.5452C>T (p.Pro1818Ser)
|
rs1316942078
|
|
NM_001142800.2(EYS):c.5453C>T (p.Pro1818Leu)
|
rs2149831083
|
|
NM_001142800.2(EYS):c.5475C>T (p.Thr1825=)
|
|
|
NM_001142800.2(EYS):c.5478T>C (p.Ser1826=)
|
rs2149831056
|
|
NM_001142800.2(EYS):c.5479C>G (p.Leu1827Val)
|
rs746509889
|
|
NM_001142800.2(EYS):c.548G>T (p.Cys183Phe)
|
rs1766186534
|
|
NM_001142800.2(EYS):c.5490G>A (p.Glu1830=)
|
|
|
NM_001142800.2(EYS):c.5492T>C (p.Val1831Ala)
|
|
|
NM_001142800.2(EYS):c.549_558dup (p.Gly187fs)
|
|
|
NM_001142800.2(EYS):c.54C>T (p.Phe18=)
|
rs1031123649
|
|
NM_001142800.2(EYS):c.5504C>T (p.Ser1835Leu)
|
|
|
NM_001142800.2(EYS):c.5505A>G (p.Ser1835=)
|
|
|
NM_001142800.2(EYS):c.5506G>A (p.Glu1836Lys)
|
rs1478427973
|
|
NM_001142800.2(EYS):c.5506G>C (p.Glu1836Gln)
|
|
|
NM_001142800.2(EYS):c.5508A>G (p.Glu1836=)
|
rs2149831020
|
|
NM_001142800.2(EYS):c.5510G>A (p.Trp1837Ter)
|
|
|
NM_001142800.2(EYS):c.5520G>A (p.Trp1840Ter)
|
rs2149831000
|
|
NM_001142800.2(EYS):c.5527C>T (p.Gln1843Ter)
|
rs2149830992
|
|
NM_001142800.2(EYS):c.5530_5534dup (p.Val1846fs)
|
rs1405016852
|
|
NM_001142800.2(EYS):c.5534del (p.Ser1845fs)
|
|
|
NM_001142800.2(EYS):c.5541A>G (p.Gln1847=)
|
|
|
NM_001142800.2(EYS):c.5547G>A (p.Gln1849=)
|
|
|
NM_001142800.2(EYS):c.5554C>G (p.Pro1852Ala)
|
rs1766362938
|
|
NM_001142800.2(EYS):c.5556C>A (p.Pro1852=)
|
|
|
NM_001142800.2(EYS):c.555T>C (p.Gly185=)
|
rs1766186245
|
|
NM_001142800.2(EYS):c.5565C>T (p.Ser1855=)
|
rs2149830961
|
|
NM_001142800.2(EYS):c.5568G>T (p.Arg1856=)
|
rs1016126628
|
|
NM_001142800.2(EYS):c.5574T>C (p.Leu1858=)
|
|
|
NM_001142800.2(EYS):c.5575C>A (p.Pro1859Thr)
|
|
|
NM_001142800.2(EYS):c.5580C>T (p.Phe1860=)
|
|
|
NM_001142800.2(EYS):c.5583T>C (p.Thr1861=)
|
|
|
NM_001142800.2(EYS):c.5583T>G (p.Thr1861=)
|
|
|
NM_001142800.2(EYS):c.5584_5587dup (p.Ser1863Ter)
|
|
|
NM_001142800.2(EYS):c.5595T>C (p.Thr1865=)
|
|
|
NM_001142800.2(EYS):c.559G>A (p.Gly187Ser)
|
rs779319928
|
|
NM_001142800.2(EYS):c.5600C>A (p.Ser1867Tyr)
|
rs542339299
|
|
NM_001142800.2(EYS):c.5600C>T (p.Ser1867Phe)
|
rs542339299
|
|
NM_001142800.2(EYS):c.5601T>A (p.Ser1867=)
|
rs182322608
|
|
NM_001142800.2(EYS):c.5613C>T (p.Ser1871=)
|
|
|
NM_001142800.2(EYS):c.5614A>G (p.Ile1872Val)
|
|
|
NM_001142800.2(EYS):c.5616T>A (p.Ile1872=)
|
rs2149830919
|
|
NM_001142800.2(EYS):c.5623C>T (p.Pro1875Ser)
|
rs2149830908
|
|
NM_001142800.2(EYS):c.5630G>A (p.Arg1877Gln)
|
rs780006257
|
|
NM_001142800.2(EYS):c.5632C>T (p.Leu1878=)
|
|
|
NM_001142800.2(EYS):c.5640T>A (p.Ile1880=)
|
rs2149830876
|
|
NM_001142800.2(EYS):c.5645-10G>A
|
|
|
NM_001142800.2(EYS):c.5645-15T>C
|
|
|
NM_001142800.2(EYS):c.5645-1G>A
|
|
|
NM_001142800.2(EYS):c.5645-3C>T
|
rs2150466528
|
|
NM_001142800.2(EYS):c.5645-5C>T
|
rs1003975346
|
|
NM_001142800.2(EYS):c.5645-6C>A
|
|
|
NM_001142800.2(EYS):c.5646T>C (p.Asp1882=)
|
|
|
NM_001142800.2(EYS):c.5658T>C (p.Val1886=)
|
rs930926553
|
|
NM_001142800.2(EYS):c.5661_5662insAA (p.Tyr1888fs)
|
rs2150466512
|
|
NM_001142800.2(EYS):c.5665del (p.Tyr1889fs)
|
|
|
NM_001142800.2(EYS):c.5667T>C (p.Tyr1889=)
|
|
|
NM_001142800.2(EYS):c.5670A>G (p.Gly1890=)
|
rs2150466493
|
|
NM_001142800.2(EYS):c.5672A>T (p.Asp1891Val)
|
|
|
NM_001142800.2(EYS):c.5673T>C (p.Asp1891=)
|
rs1400731311
|
|
NM_001142800.2(EYS):c.5676T>C (p.Ser1892=)
|
rs2150466486
|
|
NM_001142800.2(EYS):c.5677_5681del (p.Tyr1893fs)
|
|
|
NM_001142800.2(EYS):c.5682A>G (p.Leu1894=)
|
|
|
NM_001142800.2(EYS):c.5683G>T (p.Glu1895Ter)
|
|
|
NM_001142800.2(EYS):c.5693A>G (p.Asn1898Ser)
|
|
|
NM_001142800.2(EYS):c.5694T>C (p.Asn1898=)
|
rs981456641
|
|
NM_001142800.2(EYS):c.5696T>A (p.Val1899Glu)
|
|
|
NM_001142800.2(EYS):c.5697G>T (p.Val1899=)
|
rs2150466459
|
|
NM_001142800.2(EYS):c.569T>A (p.Leu190His)
|
|
|
NM_001142800.2(EYS):c.569T>C (p.Leu190Pro)
|
|
|
NM_001142800.2(EYS):c.5700T>C (p.Ala1900=)
|
|
|
NM_001142800.2(EYS):c.5714A>G (p.Asn1905Ser)
|
|
|
NM_001142800.2(EYS):c.5718C>T (p.Asn1906=)
|
rs2150466437
|
|
NM_001142800.2(EYS):c.571dup (p.Ser191fs)
|
rs2127271080
|
|
NM_001142800.2(EYS):c.5721C>T (p.Ile1907=)
|
rs757476351
|
|
NM_001142800.2(EYS):c.5723C>A (p.Ser1908Tyr)
|
rs2150466427
|
|
NM_001142800.2(EYS):c.5724C>T (p.Ser1908=)
|
|
|
NM_001142800.2(EYS):c.5730A>G (p.Glu1910=)
|
rs2150466419
|
|
NM_001142800.2(EYS):c.5734C>T (p.Gln1912Ter)
|
|
|
NM_001142800.2(EYS):c.5739C>T (p.Thr1913=)
|
|
|
NM_001142800.2(EYS):c.5744G>C (p.Ser1915Thr)
|
rs1774855257
|
|
NM_001142800.2(EYS):c.5747C>T (p.Ser1916Phe)
|
|
|
NM_001142800.2(EYS):c.5748del (p.Tyr1917fs)
|
rs1774855104
|
|
NM_001142800.2(EYS):c.5750A>G (p.Tyr1917Cys)
|
|
|
NM_001142800.2(EYS):c.5751T>A (p.Tyr1917Ter)
|
|
|
NM_001142800.2(EYS):c.5758C>T (p.Leu1920=)
|
|
|
NM_001142800.2(EYS):c.5760G>T (p.Leu1920=)
|
|
|
NM_001142800.2(EYS):c.5761C>T (p.Leu1921=)
|
|
|
NM_001142800.2(EYS):c.5769C>A (p.Val1923=)
|
|
|
NM_001142800.2(EYS):c.5769C>T (p.Val1923=)
|
|
|
NM_001142800.2(EYS):c.5778C>T (p.Asp1926=)
|
|
|
NM_001142800.2(EYS):c.5781A>C (p.Ser1927=)
|
|
|
NM_001142800.2(EYS):c.5782A>G (p.Asn1928Asp)
|
rs1432152673
|
|
NM_001142800.2(EYS):c.5786del (p.Asn1928_Leu1929insTer)
|
rs2150466350
|
|
NM_001142800.2(EYS):c.5787A>C (p.Leu1929Phe)
|
rs2150466343
|
|
NM_001142800.2(EYS):c.5788G>A (p.Val1930Ile)
|
rs2150466341
|
|
NM_001142800.2(EYS):c.578C>G (p.Ala193Gly)
|
|
|
NM_001142800.2(EYS):c.5790A>G (p.Val1930=)
|
|
|
NM_001142800.2(EYS):c.5793T>A (p.Asp1931Glu)
|
rs1774853217
|
|
NM_001142800.2(EYS):c.5793T>C (p.Asp1931=)
|
|
|
NM_001142800.2(EYS):c.5794G>A (p.Gly1932Arg)
|
rs1319912217
|
|
NM_001142800.2(EYS):c.5796A>T (p.Gly1932=)
|
|
|
NM_001142800.2(EYS):c.5802dup (p.Ile1935fs)
|
rs1455826633
|
|
NM_001142800.2(EYS):c.5810T>G (p.Leu1937Trp)
|
rs1774852530
|
|
NM_001142800.2(EYS):c.5811G>A (p.Leu1937=)
|
rs746179904
|
|
NM_001142800.2(EYS):c.5815A>T (p.Ile1939Phe)
|
rs2150466312
|
|
NM_001142800.2(EYS):c.5818G>C (p.Glu1940Gln)
|
rs955143854
|
|
NM_001142800.2(EYS):c.5825G>T (p.Gly1942Val)
|
|
|
NM_001142800.2(EYS):c.5834_5835+4del
|
rs1582753394
|
|
NM_001142800.2(EYS):c.5834del (p.Lys1945fs)
|
rs774455587
|
|
NM_001142800.2(EYS):c.5835+12A>T
|
|
|
NM_001142800.2(EYS):c.5835+13G>T
|
|
|
NM_001142800.2(EYS):c.5835+14T>C
|
|
|
NM_001142800.2(EYS):c.5835+16C>A
|
rs1774851271
|
|
NM_001142800.2(EYS):c.5835+19T>G
|
|
|
NM_001142800.2(EYS):c.5835+1G>T
|
rs1774851704
|
|
NM_001142800.2(EYS):c.5835+8A>G
|
|
|
NM_001142800.2(EYS):c.5836-11T>C
|
|
|
NM_001142800.2(EYS):c.5836-11del
|
|
|
NM_001142800.2(EYS):c.5836-15T>A
|
|
|
NM_001142800.2(EYS):c.5836-16T>A
|
|
|
NM_001142800.2(EYS):c.5836-17A>G
|
rs530685623
|
|
NM_001142800.2(EYS):c.5836-17A>T
|
|
|
NM_001142800.2(EYS):c.5836-19A>G
|
|
|
NM_001142800.2(EYS):c.5836-1G>A
|
rs2150463984
|
|
NM_001142800.2(EYS):c.5836-1G>C
|
rs2150463984
|
|
NM_001142800.2(EYS):c.5836-2del
|
rs2150463985
|
|
NM_001142800.2(EYS):c.5836-3C>A
|
|
|
NM_001142800.2(EYS):c.5836-5A>G
|
rs2150463991
|
|
NM_001142800.2(EYS):c.5836-9C>A
|
|
|
NM_001142800.2(EYS):c.5838C>A (p.Tyr1946Ter)
|
|
|
NM_001142800.2(EYS):c.5839C>T (p.His1947Tyr)
|
rs1774743807
|
|
NM_001142800.2(EYS):c.5841del (p.Tyr1949fs)
|
|
|
NM_001142800.2(EYS):c.5845T>C (p.Tyr1949His)
|
|
|
NM_001142800.2(EYS):c.5847C>T (p.Tyr1949=)
|
|
|
NM_001142800.2(EYS):c.5853T>C (p.Pro1951=)
|
rs1774743401
|
|
NM_001142800.2(EYS):c.5853T>G (p.Pro1951=)
|
|
|
NM_001142800.2(EYS):c.5857G>A (p.Glu1953Lys)
|
|
|
NM_001142800.2(EYS):c.585C>G (p.Ser195Arg)
|
|
|
NM_001142800.2(EYS):c.585C>T (p.Ser195=)
|
|
|
NM_001142800.2(EYS):c.5861C>T (p.Ala1954Val)
|
rs1774743043
|
|
NM_001142800.2(EYS):c.5862A>G (p.Ala1954=)
|
|
|
NM_001142800.2(EYS):c.5874C>G (p.Ser1958Arg)
|
rs1774742459
|
|
NM_001142800.2(EYS):c.5877T>C (p.Ile1959=)
|
|
|
NM_001142800.2(EYS):c.5883T>C (p.Thr1961=)
|
rs779530881
|
|
NM_001142800.2(EYS):c.5895G>C (p.Val1965=)
|
rs1774741756
|
|
NM_001142800.2(EYS):c.5898C>T (p.Asp1966=)
|
rs2150463923
|
|
NM_001142800.2(EYS):c.5907A>G (p.Gln1969=)
|
|
|
NM_001142800.2(EYS):c.5916dup (p.Leu1973fs)
|
rs1774741085
|
|
NM_001142800.2(EYS):c.591A>G (p.Thr197=)
|
rs1373716354
|
|
NM_001142800.2(EYS):c.5922T>C (p.Leu1974=)
|
|
|
NM_001142800.2(EYS):c.5927+12A>G
|
|
|
NM_001142800.2(EYS):c.5927+16C>A
|
|
|
NM_001142800.2(EYS):c.5927+1G>A
|
|
|
NM_001142800.2(EYS):c.5927+20del
|
|
|
NM_001142800.2(EYS):c.5927+5G>C
|
|
|
NM_001142800.2(EYS):c.5927+8A>G
|
rs1774740606
|
|
NM_001142800.2(EYS):c.5927G>C (p.Arg1976Thr)
|
rs2150463897
|
|
NM_001142800.2(EYS):c.5928-13T>G
|
|
|
NM_001142800.2(EYS):c.5928-18T>C
|
|
|
NM_001142800.2(EYS):c.5928-19C>A
|
|
|
NM_001142800.2(EYS):c.5928-3C>T
|
|
|
NM_001142800.2(EYS):c.5928-3_5928-1del
|
rs1554152094
|
|
NM_001142800.2(EYS):c.5928-7G>T
|
rs1298069575
|
|
NM_001142800.2(EYS):c.5928-8G>T
|
rs1339309007
|
|
NM_001142800.2(EYS):c.5928-9T>C
|
|
|
NM_001142800.2(EYS):c.592T>G (p.Tyr198Asp)
|
|
|
NM_001142800.2(EYS):c.5934A>G (p.Glu1978=)
|
|
|
NM_001142800.2(EYS):c.5943A>G (p.Pro1981=)
|
|
|
NM_001142800.2(EYS):c.5944T>C (p.Cys1982Arg)
|
|
|
NM_001142800.2(EYS):c.5945G>T (p.Cys1982Phe)
|
|
|
NM_001142800.2(EYS):c.5956C>T (p.Leu1986=)
|
rs2150425054
|
|
NM_001142800.2(EYS):c.5958G>A (p.Leu1986=)
|
rs2150425049
|
|
NM_001142800.2(EYS):c.5958_5961del (p.Thr1987fs)
|
rs1561965266
|
|
NM_001142800.2(EYS):c.5964T>C (p.Ile1988=)
|
|
|
NM_001142800.2(EYS):c.5970G>A (p.Gly1990=)
|
rs2150425033
|
|
NM_001142800.2(EYS):c.5980C>T (p.Gln1994Ter)
|
|
|
NM_001142800.2(EYS):c.5989G>A (p.Glu1997Lys)
|
|
|
NM_001142800.2(EYS):c.5990A>T (p.Glu1997Val)
|
rs1772996635
|
|
NM_001142800.2(EYS):c.5997C>T (p.Ile1999=)
|
rs2150425006
|
|
NM_001142800.2(EYS):c.6003T>G (p.His2001Gln)
|
rs1168554087
|
|
NM_001142800.2(EYS):c.6009C>A (p.Leu2003=)
|
|
|
NM_001142800.2(EYS):c.6015A>G (p.Lys2005=)
|
|
|
NM_001142800.2(EYS):c.6016C>T (p.Pro2006Ser)
|
|
|
NM_001142800.2(EYS):c.6024A>G (p.Pro2008=)
|
|
|
NM_001142800.2(EYS):c.6025A>C (p.Lys2009Gln)
|
|
|
NM_001142800.2(EYS):c.6029C>G (p.Ser2010Ter)
|
|
|
NM_001142800.2(EYS):c.602A>G (p.His201Arg)
|
rs1011260787
|
|
NM_001142800.2(EYS):c.6032dup (p.Ser2012fs)
|
|
|
NM_001142800.2(EYS):c.6035C>T (p.Ser2012Phe)
|
|
|
NM_001142800.2(EYS):c.6039C>G (p.Val2013=)
|
|
|
NM_001142800.2(EYS):c.6039C>T (p.Val2013=)
|
|
|
NM_001142800.2(EYS):c.6050G>A (p.Gly2017Glu)
|
|
|
NM_001142800.2(EYS):c.6051A>G (p.Gly2017=)
|
|
|
NM_001142800.2(EYS):c.6060C>T (p.Asp2020=)
|
rs1427608537
|
|
NM_001142800.2(EYS):c.6061C>T (p.Leu2021Phe)
|
rs2150424923
|
|
NM_001142800.2(EYS):c.6064_6065dup (p.Gly2023fs)
|
rs2150424909
|
|
NM_001142800.2(EYS):c.6066T>G (p.His2022Gln)
|
|
|
NM_001142800.2(EYS):c.6069G>C (p.Gly2023=)
|
|
|
NM_001142800.2(EYS):c.606C>A (p.Cys202Ter)
|
rs149741810
|
|
NM_001142800.2(EYS):c.6073dup (p.Ile2025fs)
|
rs2150424894
|
|
NM_001142800.2(EYS):c.6075C>T (p.Ile2025=)
|
|
|
NM_001142800.2(EYS):c.6078+11A>G
|
|
|
NM_001142800.2(EYS):c.6078+12G>A
|
|
|
NM_001142800.2(EYS):c.6078+14T>A
|
|
|
NM_001142800.2(EYS):c.6078+15G>T
|
rs1165113175
|
|
NM_001142800.2(EYS):c.6078+17T>C
|
|
|
NM_001142800.2(EYS):c.6078+18T>C
|
|
|
NM_001142800.2(EYS):c.6078+3A>G
|
rs1400181347
|
|
NM_001142800.2(EYS):c.6078+9A>T
|
rs1172112238
|
|
NM_001142800.2(EYS):c.6078G>C (p.Gln2026His)
|
rs2150424888
|
|
NM_001142800.2(EYS):c.6078G>T (p.Gln2026His)
|
|
|
NM_001142800.2(EYS):c.6079-13C>T
|
rs977636304
|
|
NM_001142800.2(EYS):c.6079-24TC[10]
|
rs35395170
|
|
NM_001142800.2(EYS):c.6079-24TC[12]
|
rs35395170
|
|
NM_001142800.2(EYS):c.6079-24TC[13]
|
rs35395170
|
|
NM_001142800.2(EYS):c.6079-24TC[15]
|
|
|
NM_001142800.2(EYS):c.6079-24TC[5]
|
rs35395170
|
|
NM_001142800.2(EYS):c.6079-24TC[6]
|
rs35395170
|
|
NM_001142800.2(EYS):c.6079-24TC[7]
|
rs35395170
|
|
NM_001142800.2(EYS):c.6079-24TC[8]
|
rs35395170
|
|
NM_001142800.2(EYS):c.6079-24TC[9]
|
rs35395170
|
|
NM_001142800.2(EYS):c.6079-2A>G
|
|
|
NM_001142800.2(EYS):c.6079-6T>C
|
rs1769481251
|
|
NM_001142800.2(EYS):c.6079-7C>G
|
rs1338965230
|
|
NM_001142800.2(EYS):c.6079-7C>T
|
rs1338965230
|
|
NM_001142800.2(EYS):c.6079-8T>C
|
|
|
NM_001142800.2(EYS):c.607C>T (p.Gln203Ter)
|
rs1766182274
|
|
NM_001142800.2(EYS):c.6082C>G (p.Pro2028Ala)
|
rs1769479599
|
|
NM_001142800.2(EYS):c.6090A>G (p.Pro2030=)
|
rs1306447888
|
|
NM_001142800.2(EYS):c.6099T>C (p.Asn2033=)
|
|
|
NM_001142800.2(EYS):c.6102del (p.Phe2034fs)
|
rs1582571021
|
|
NM_001142800.2(EYS):c.6102dup (p.Thr2035fs)
|
rs1582571021
|
|
NM_001142800.2(EYS):c.6104C>T (p.Thr2035Ile)
|
|
|
NM_001142800.2(EYS):c.6108C>T (p.Gly2036=)
|
rs1408475124
|
|
NM_001142800.2(EYS):c.6110G>A (p.Cys2037Tyr)
|
|
|
NM_001142800.2(EYS):c.6110G>T (p.Cys2037Phe)
|
rs1334628225
|
|
NM_001142800.2(EYS):c.612T>C (p.Pro204=)
|
rs1766182031
|
|
NM_001142800.2(EYS):c.6131_6134del (p.Asn2044fs)
|
rs2150375968
|
|
NM_001142800.2(EYS):c.6132T>C (p.Asn2044=)
|
rs2150375971
|
|
NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter)
|
rs878853350
|
|
NM_001142800.2(EYS):c.6139A>T (p.Arg2047Ter)
|
rs1769476342
|
|
NM_001142800.2(EYS):c.613C>T (p.Pro205Ser)
|
rs1554202833
|
|
NM_001142800.2(EYS):c.6150T>A (p.Ile2050=)
|
|
|
NM_001142800.2(EYS):c.6159G>A (p.Lys2053=)
|
|
|
NM_001142800.2(EYS):c.615A>G (p.Pro205=)
|
rs2127270987
|
|
NM_001142800.2(EYS):c.615_616delinsCC (p.Phe206Leu)
|
rs2127270983
|
|
NM_001142800.2(EYS):c.6160G>C (p.Ala2054Pro)
|
|
|
NM_001142800.2(EYS):c.6162A>G (p.Ala2054=)
|
rs1164261609
|
|
NM_001142800.2(EYS):c.6165G>A (p.Val2055=)
|
|
|
NM_001142800.2(EYS):c.6170A>G (p.Asn2057Ser)
|
rs2150375946
|
|
NM_001142800.2(EYS):c.6170del (p.Asn2057fs)
|
rs1769471435
|
|
NM_001142800.2(EYS):c.6171C>T (p.Asn2057=)
|
rs1769471328
|
|
NM_001142800.2(EYS):c.6174T>C (p.Tyr2058=)
|
|
|
NM_001142800.2(EYS):c.6174T>G (p.Tyr2058Ter)
|
rs1769471082
|
|
NM_001142800.2(EYS):c.6186T>C (p.Asn2062=)
|
rs1446982295
|
|
NM_001142800.2(EYS):c.618T>C (p.Phe206=)
|
rs1434610674
|
|
NM_001142800.2(EYS):c.618_619del (p.Ser207fs)
|
rs2127270969
|
|
NM_001142800.2(EYS):c.6191+13T>A
|
rs2150375915
|
|
NM_001142800.2(EYS):c.6191+8A>C
|
|
|
NM_001142800.2(EYS):c.6191+9G>C
|
|
|
NM_001142800.2(EYS):c.6192-10T>C
|
|
|
NM_001142800.2(EYS):c.6192-14T>C
|
|
|
NM_001142800.2(EYS):c.6192-17C>T
|
|
|
NM_001142800.2(EYS):c.6192-18T>C
|
|
|
NM_001142800.2(EYS):c.6192-1G>A
|
|
|
NM_001142800.2(EYS):c.6192-4A>G
|
|
|
NM_001142800.2(EYS):c.6192-6T>A
|
|
|
NM_001142800.2(EYS):c.6192-6T>C
|
rs1315198670
|
|
NM_001142800.2(EYS):c.6192-7A>C
|
|
|
NM_001142800.2(EYS):c.6192-9A>C
|
rs2150338068
|
|
NM_001142800.2(EYS):c.6196del (p.Gln2066fs)
|
|
|
NM_001142800.2(EYS):c.6197A>G (p.Gln2066Arg)
|
|
|
NM_001142800.2(EYS):c.6204T>C (p.Phe2068=)
|
rs185371095
|
|
NM_001142800.2(EYS):c.6210G>A (p.Leu2070=)
|
|
|
NM_001142800.2(EYS):c.6213T>C (p.Ser2071=)
|
|
|
NM_001142800.2(EYS):c.6214C>G (p.Pro2072Ala)
|
rs1766405253
|
|
NM_001142800.2(EYS):c.6229G>A (p.Val2077Ile)
|
rs1214579712
|
|
NM_001142800.2(EYS):c.6229_6238del (p.Val2077fs)
|
rs1554220416
|
|
NM_001142800.2(EYS):c.6240T>C (p.Ser2080=)
|
|
|
NM_001142800.2(EYS):c.6249A>C (p.Thr2083=)
|
rs1005939398
|
|
NM_001142800.2(EYS):c.6255G>A (p.Gly2085=)
|
|
|
NM_001142800.2(EYS):c.6258T>A (p.Val2086=)
|
|
|
NM_001142800.2(EYS):c.6269G>A (p.Trp2090Ter)
|
rs1562263385
|
|
NM_001142800.2(EYS):c.6270G>A (p.Trp2090Ter)
|
|
|
NM_001142800.2(EYS):c.6276T>C (p.Ser2092=)
|
|
|
NM_001142800.2(EYS):c.6281G>A (p.Ser2094Asn)
|
rs2150338023
|
|
NM_001142800.2(EYS):c.6282C>T (p.Ser2094=)
|
|
|
NM_001142800.2(EYS):c.6285C>T (p.Pro2095=)
|
|
|
NM_001142800.2(EYS):c.6287_6288del (p.Ser2096fs)
|
rs2150338009
|
|
NM_001142800.2(EYS):c.6289G>A (p.Val2097Ile)
|
|
|
NM_001142800.2(EYS):c.6289G>C (p.Val2097Leu)
|
|
|
NM_001142800.2(EYS):c.6294A>C (p.Ala2098=)
|
|
|
NM_001142800.2(EYS):c.6296C>T (p.Ala2099Val)
|
rs2150337999
|
|
NM_001142800.2(EYS):c.6302C>G (p.Ser2101Cys)
|
|
|
NM_001142800.2(EYS):c.6306G>A (p.Val2102=)
|
rs1766401358
|
|
NM_001142800.2(EYS):c.630C>A (p.Tyr210Ter)
|
rs1469481918
|
|
NM_001142800.2(EYS):c.6313C>T (p.Gln2105Ter)
|
rs1188834464
|
|
NM_001142800.2(EYS):c.6321A>G (p.Val2107=)
|
|
|
NM_001142800.2(EYS):c.6322T>C (p.Cys2108Arg)
|
rs1766400182
|
|
NM_001142800.2(EYS):c.6324C>A (p.Cys2108Ter)
|
rs1469992138
|
|
NM_001142800.2(EYS):c.6330T>C (p.Asn2110=)
|
rs2150337969
|
|
NM_001142800.2(EYS):c.6335G>A (p.Gly2112Asp)
|
|
|
NM_001142800.2(EYS):c.6344A>C (p.His2115Pro)
|
rs1046447869
|
|
NM_001142800.2(EYS):c.6345T>C (p.His2115=)
|
|
|
NM_001142800.2(EYS):c.6346G>T (p.Ala2116Ser)
|
rs781499990
|
|
NM_001142800.2(EYS):c.6351C>T (p.Ile2117=)
|
|
|
NM_001142800.2(EYS):c.6357C>T (p.Leu2119=)
|
rs2150337956
|
|
NM_001142800.2(EYS):c.6363T>C (p.Ser2121=)
|
rs2150337947
|
|
NM_001142800.2(EYS):c.6369_6376dup (p.Phe2126Ter)
|
rs1766397905
|
|
NM_001142800.2(EYS):c.636G>A (p.Gln212=)
|
rs2127270946
|
|
NM_001142800.2(EYS):c.6371T>G (p.Val2124Gly)
|
|
|
NM_001142800.2(EYS):c.6372G>A (p.Val2124=)
|
rs1283422719
|
|
NM_001142800.2(EYS):c.637_643del (p.Glu213fs)
|
rs1285201633
|
|
NM_001142800.2(EYS):c.6381_6393del (p.Gln2127fs)
|
rs2150337928
|
|
NM_001142800.2(EYS):c.6382T>C (p.Cys2128Arg)
|
|
|
NM_001142800.2(EYS):c.6383G>A (p.Cys2128Tyr)
|
rs942815164
|
|
NM_001142800.2(EYS):c.6389G>C (p.Cys2130Ser)
|
|
|
NM_001142800.2(EYS):c.6390T>C (p.Cys2130=)
|
|
|
NM_001142800.2(EYS):c.6396A>G (p.Leu2132=)
|
|
|
NM_001142800.2(EYS):c.6404_6415del (p.Thr2135_Cys2139delinsSer)
|
|
|
NM_001142800.2(EYS):c.6405T>C (p.Thr2135=)
|
|
|
NM_001142800.2(EYS):c.6414C>T (p.Phe2138=)
|
|
|
NM_001142800.2(EYS):c.6415T>C (p.Cys2139Arg)
|
rs1378663182
|
|
NM_001142800.2(EYS):c.6424+18C>T
|
|
|
NM_001142800.2(EYS):c.6424+1G>A
|
|
|
NM_001142800.2(EYS):c.6424+2T>C
|
|
|
NM_001142800.2(EYS):c.6425-10T>C
|
rs2149869130
|
|
NM_001142800.2(EYS):c.6425-13T>C
|
|
|
NM_001142800.2(EYS):c.6425-15C>G
|
|
|
NM_001142800.2(EYS):c.6425-15C>T
|
|
|
NM_001142800.2(EYS):c.6425-15_6425-11dup
|
|
|
NM_001142800.2(EYS):c.6425-15del
|
|
|
NM_001142800.2(EYS):c.6425-16C>T
|
|
|
NM_001142800.2(EYS):c.6425-19A>G
|
|
|
NM_001142800.2(EYS):c.6425-6T>C
|
rs2149869128
|
|
NM_001142800.2(EYS):c.6425-7T>G
|
|
|
NM_001142800.2(EYS):c.6425-8T>C
|
|
|
NM_001142800.2(EYS):c.6425-9C>A
|
|
|
NM_001142800.2(EYS):c.6438C>A (p.Phe2146Leu)
|
rs578167289
|
|
NM_001142800.2(EYS):c.6442C>A (p.Pro2148Thr)
|
|
|
NM_001142800.2(EYS):c.6444A>G (p.Pro2148=)
|
rs556671009
|
|
NM_001142800.2(EYS):c.6448T>C (p.Phe2150Leu)
|
|
|
NM_001142800.2(EYS):c.6451A>G (p.Asn2151Asp)
|
|
|
NM_001142800.2(EYS):c.6456G>A (p.Gly2152=)
|
|
|
NM_001142800.2(EYS):c.6462C>T (p.Ser2154=)
|
rs2149869076
|
|
NM_001142800.2(EYS):c.6466T>C (p.Leu2156=)
|
|
|
NM_001142800.2(EYS):c.6469G>C (p.Glu2157Gln)
|
rs2149869071
|
|
NM_001142800.2(EYS):c.6469G>T (p.Glu2157Ter)
|
|
|
NM_001142800.2(EYS):c.6471A>G (p.Glu2157=)
|
|
|
NM_001142800.2(EYS):c.6472C>T (p.Leu2158=)
|
rs1771988039
|
|
NM_001142800.2(EYS):c.6474G>T (p.Leu2158=)
|
rs1383513366
|
|
NM_001142800.2(EYS):c.6476C>G (p.Pro2159Arg)
|
|
|
NM_001142800.2(EYS):c.6477C>G (p.Pro2159=)
|
rs1771987390
|
|
NM_001142800.2(EYS):c.6482_6483insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAGAACTGCCCTTTTT (p.Phe2160_Leu2161insPhePhePhePhePhePhePheXaaXaaXaaXaaProLysThrIleLysThrLeuGluGluAsnLeuGlyIleThrIleGlnAspIleGlyValGlyLysAspPheMetSerLysThrProLysAlaMetAlaThrGluLeuProPhe)
|
|
|
NM_001142800.2(EYS):c.6483G>A (p.Leu2161=)
|
rs2149869044
|
|
NM_001142800.2(EYS):c.6485dup (p.Phe2163fs)
|
|
|
NM_001142800.2(EYS):c.6489T>C (p.Phe2163=)
|
rs1771986869
|
|
NM_001142800.2(EYS):c.648A>G (p.Ala216=)
|
|
|
NM_001142800.2(EYS):c.6491T>C (p.Val2164Ala)
|
|
|
NM_001142800.2(EYS):c.6493C>T (p.Leu2165=)
|
|
|
NM_001142800.2(EYS):c.6497A>G (p.Glu2166Gly)
|
|
|
NM_001142800.2(EYS):c.6501_6502del (p.Glu2168fs)
|
|
|
NM_001142800.2(EYS):c.6504A>G (p.Glu2168=)
|
|
|
NM_001142800.2(EYS):c.6506del (p.His2169fs)
|
|
|
NM_001142800.2(EYS):c.6512G>A (p.Arg2171Lys)
|
|
|
NM_001142800.2(EYS):c.6519T>C (p.Val2173=)
|
rs1486729746
|
|
NM_001142800.2(EYS):c.6523A>G (p.Ile2175Val)
|
rs1771984821
|
|
NM_001142800.2(EYS):c.6531G>C (p.Leu2177Phe)
|
|
|
NM_001142800.2(EYS):c.6543A>G (p.Thr2181=)
|
rs1771983544
|
|
NM_001142800.2(EYS):c.6546C>T (p.Asn2182=)
|
|
|
NM_001142800.2(EYS):c.6552_6553insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAACAAACAGTTTA (p.Asn2185delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer)
|
|
|
NM_001142800.2(EYS):c.6557G>C (p.Gly2186Ala)
|
|
|
NM_001142800.2(EYS):c.6571+12A>G
|
|
|
NM_001142800.2(EYS):c.6571+18G>A
|
|
|
NM_001142800.2(EYS):c.6571+6T>C
|
rs1582241382
|
|
NM_001142800.2(EYS):c.6571+7A>T
|
|
|
NM_001142800.2(EYS):c.6571+7_6571+15del
|
|
|
NM_001142800.2(EYS):c.6571+8T>G
|
|
|
NM_001142800.2(EYS):c.6572-10T>C
|
|
|
NM_001142800.2(EYS):c.6572-15_6572-13del
|
|
|
NM_001142800.2(EYS):c.6572-15_6572-14del
|
|
|
NM_001142800.2(EYS):c.6572-17T>G
|
|
|
NM_001142800.2(EYS):c.6572-2A>C
|
rs1771378101
|
|
NM_001142800.2(EYS):c.6572-7dup
|
|
|
NM_001142800.2(EYS):c.6572-8del
|
|
|
NM_001142800.2(EYS):c.6572-8dup
|
rs1370853057
|
|
NM_001142800.2(EYS):c.6575A>T (p.Asn2192Ile)
|
rs750904267
|
|
NM_001142800.2(EYS):c.6576T>C (p.Asn2192=)
|
|
|
NM_001142800.2(EYS):c.6579G>A (p.Gly2193=)
|
rs796407743
|
|
NM_001142800.2(EYS):c.6579G>C (p.Gly2193=)
|
rs796407743
|
|
NM_001142800.2(EYS):c.657T>C (p.Phe219=)
|
rs2127270900
|
|
NM_001142800.2(EYS):c.6587G>A (p.Cys2196Tyr)
|
|
|
NM_001142800.2(EYS):c.6589G>A (p.Gly2197Arg)
|
|
|
NM_001142800.2(EYS):c.6597G>A (p.Gln2199=)
|
|
|
NM_001142800.2(EYS):c.6600T>C (p.Phe2200=)
|
rs2149855762
|
|
NM_001142800.2(EYS):c.6602T>C (p.Leu2201Pro)
|
rs2149855751
|
|
NM_001142800.2(EYS):c.6604_6608del (p.His2202fs)
|
|
|
NM_001142800.2(EYS):c.6605_6613del (p.His2202_Phe2204del)
|
rs1771374961
|
|
NM_001142800.2(EYS):c.6609A>G (p.Leu2203=)
|
|
|
NM_001142800.2(EYS):c.6613C>T (p.Leu2205Phe)
|
|
|
NM_001142800.2(EYS):c.6615T>G (p.Leu2205=)
|
rs1451723432
|
|
NM_001142800.2(EYS):c.6618G>C (p.Val2206=)
|
rs2149855731
|
|
NM_001142800.2(EYS):c.6624A>G (p.Gly2208=)
|
|
|
NM_001142800.2(EYS):c.6634G>C (p.Val2212Leu)
|
|
|
NM_001142800.2(EYS):c.6637A>T (p.Lys2213Ter)
|
|
|
NM_001142800.2(EYS):c.6645G>A (p.Gly2215=)
|
|
|
NM_001142800.2(EYS):c.6645G>C (p.Gly2215=)
|
rs376974348
|
|
NM_001142800.2(EYS):c.6645del (p.Cys2216fs)
|
|
|
NM_001142800.2(EYS):c.6646T>C (p.Cys2216Arg)
|
rs1239231782
|
|
NM_001142800.2(EYS):c.6647G>A (p.Cys2216Tyr)
|
|
|
NM_001142800.2(EYS):c.6648T>C (p.Cys2216=)
|
|
|
NM_001142800.2(EYS):c.6669G>A (p.Leu2223=)
|
rs1295742707
|
|
NM_001142800.2(EYS):c.6671C>T (p.Thr2224Ile)
|
rs1771370733
|
|
NM_001142800.2(EYS):c.6675T>G (p.Val2225=)
|
|
|
NM_001142800.2(EYS):c.6687C>T (p.Tyr2229=)
|
|
|
NM_001142800.2(EYS):c.6690C>T (p.Ser2230=)
|
rs1771370327
|
|
NM_001142800.2(EYS):c.6696C>T (p.Asn2232=)
|
rs946318214
|
|
NM_001142800.2(EYS):c.6705A>G (p.Ala2235=)
|
rs1446390623
|
|
NM_001142800.2(EYS):c.6705A>T (p.Ala2235=)
|
|
|
NM_001142800.2(EYS):c.6708C>T (p.Phe2236=)
|
rs2149855654
|
|
NM_001142800.2(EYS):c.6719_6720del (p.Thr2240fs)
|
rs2149855637
|
|
NM_001142800.2(EYS):c.6725+13dup
|
|
|
NM_001142800.2(EYS):c.6725+19G>A
|
|
|
NM_001142800.2(EYS):c.6725+1G>A
|
rs779055763
|
|
NM_001142800.2(EYS):c.6725+20G>A
|
|
|
NM_001142800.2(EYS):c.6725+7A>G
|
|
|
NM_001142800.2(EYS):c.6725G>A (p.Arg2242His)
|
rs1771368413
|
|
NM_001142800.2(EYS):c.6726-17T>C
|
|
|
NM_001142800.2(EYS):c.6726-6G>T
|
|
|
NM_001142800.2(EYS):c.6729C>G (p.Tyr2243Ter)
|
|
|
NM_001142800.2(EYS):c.6731C>T (p.Thr2244Ile)
|
|
|
NM_001142800.2(EYS):c.6732_6734del (p.Thr2245del)
|
|
|
NM_001142800.2(EYS):c.6734C>T (p.Thr2245Met)
|
|
|
NM_001142800.2(EYS):c.6735G>T (p.Thr2245=)
|
rs776003310
|
|
NM_001142800.2(EYS):c.6738T>A (p.Pro2246=)
|
|
|
NM_001142800.2(EYS):c.6738T>C (p.Pro2246=)
|
rs2149802333
|
|
NM_001142800.2(EYS):c.6744C>A (p.Gly2248=)
|
|
|
NM_001142800.2(EYS):c.6744C>G (p.Gly2248=)
|
rs2149802331
|
|
NM_001142800.2(EYS):c.6745dup (p.Ser2249fs)
|
|
|
NM_001142800.2(EYS):c.6753A>G (p.Gly2251=)
|
|
|
NM_001142800.2(EYS):c.6756T>A (p.Val2252=)
|
|
|
NM_001142800.2(EYS):c.6759T>C (p.Val2253=)
|
rs1007699066
|
|
NM_001142800.2(EYS):c.6767T>G (p.Ile2256Ser)
|
rs1582105077
|
|
NM_001142800.2(EYS):c.6769G>T (p.Glu2257Ter)
|
rs2149802318
|
|
NM_001142800.2(EYS):c.676G>A (p.Gly226Ser)
|
rs1766178015
|
|
NM_001142800.2(EYS):c.6772A>G (p.Met2258Val)
|
rs1767966521
|
|
NM_001142800.2(EYS):c.6772dup (p.Met2258fs)
|
|
|
NM_001142800.2(EYS):c.6774G>A (p.Met2258Ile)
|
rs1767966242
|
|
NM_001142800.2(EYS):c.6777T>C (p.Thr2259=)
|
rs2149802312
|
|
NM_001142800.2(EYS):c.677G>A (p.Gly226Asp)
|
|
|
NM_001142800.2(EYS):c.6780del (p.Asp2261fs)
|
|
|
NM_001142800.2(EYS):c.6781G>C (p.Asp2261His)
|
rs1005440976
|
|
NM_001142800.2(EYS):c.6783T>C (p.Asp2261=)
|
rs2149802299
|
|
NM_001142800.2(EYS):c.6786A>G (p.Gly2262=)
|
rs2149802298
|
|
NM_001142800.2(EYS):c.678C>T (p.Gly226=)
|
|
|
NM_001142800.2(EYS):c.6791dup (p.Pro2265fs)
|
rs1582105016
|
|
NM_001142800.2(EYS):c.6792T>G (p.Pro2264=)
|
rs2149802290
|
|
NM_001142800.2(EYS):c.6794del (p.Pro2265fs)
|
rs758109813
|
|
NM_001142800.2(EYS):c.6795A>G (p.Pro2265=)
|
|
|
NM_001142800.2(EYS):c.6798A>G (p.Val2266=)
|
rs2149802283
|
|
NM_001142800.2(EYS):c.6799C>T (p.Gln2267Ter)
|
|
|
NM_001142800.2(EYS):c.6799_6800del (p.Gln2267fs)
|
|
|
NM_001142800.2(EYS):c.67dup (p.Thr23fs)
|
rs1766217655
|
|
NM_001142800.2(EYS):c.6808G>C (p.Asp2270His)
|
|
|
NM_001142800.2(EYS):c.6810C>T (p.Asp2270=)
|
|
|
NM_001142800.2(EYS):c.6812_6813del (p.Thr2271fs)
|
rs2149802267
|
|
NM_001142800.2(EYS):c.6816_6817del (p.Glu2272fs)
|
rs2149802264
|
|
NM_001142800.2(EYS):c.681T>C (p.Ser227=)
|
rs1582375831
|
|
NM_001142800.2(EYS):c.6834+17C>A
|
|
|
NM_001142800.2(EYS):c.6834+18C>T
|
|
|
NM_001142800.2(EYS):c.6834+20G>C
|
rs2149802230
|
|
NM_001142800.2(EYS):c.6834+2T>C
|
|
|
NM_001142800.2(EYS):c.6834+7A>G
|
rs1582104893
|
|
NM_001142800.2(EYS):c.6834+7A>T
|
|
|
NM_001142800.2(EYS):c.6834+8T>A
|
|
|
NM_001142800.2(EYS):c.6834+8T>C
|
rs2149802239
|
|
NM_001142800.2(EYS):c.6834G>T (p.Gln2278His)
|
|
|
NM_001142800.2(EYS):c.6835-19G>T
|
|
|
NM_001142800.2(EYS):c.6835-20del
|
|
|
NM_001142800.2(EYS):c.6835-4A>G
|
|
|
NM_001142800.2(EYS):c.6835-8T>C
|
rs2149792431
|
|
NM_001142800.2(EYS):c.6837A>G (p.Ala2279=)
|
rs2149792419
|
|
NM_001142800.2(EYS):c.6839A>G (p.Tyr2280Cys)
|
|
|
NM_001142800.2(EYS):c.683G>T (p.Cys228Phe)
|
rs999213534
|
|
NM_001142800.2(EYS):c.6842_6843del (p.Tyr2280_Phe2281insTer)
|
rs1767268980
|
|
NM_001142800.2(EYS):c.6847T>C (p.Ser2283Pro)
|
|
|
NM_001142800.2(EYS):c.6853T>C (p.Phe2285Leu)
|
rs2149792407
|
|
NM_001142800.2(EYS):c.6864T>C (p.His2288=)
|
|
|
NM_001142800.2(EYS):c.6870T>C (p.Pro2290=)
|
rs1582080249
|
|
NM_001142800.2(EYS):c.687T>C (p.Ile229=)
|
|
|
NM_001142800.2(EYS):c.6880C>T (p.Gln2294Ter)
|
rs1767266871
|
|
NM_001142800.2(EYS):c.6889A>G (p.Lys2297Glu)
|
|
|
NM_001142800.2(EYS):c.6899G>T (p.Gly2300Val)
|
rs531588707
|
|
NM_001142800.2(EYS):c.6900T>C (p.Gly2300=)
|
|
|
NM_001142800.2(EYS):c.6903T>A (p.Pro2301=)
|
|
|
NM_001142800.2(EYS):c.6918G>A (p.Arg2306=)
|
rs944103202
|
|
NM_001142800.2(EYS):c.6920G>A (p.Gly2307Asp)
|
rs1171456122
|
|
NM_001142800.2(EYS):c.6920del (p.Gly2307fs)
|
|
|
NM_001142800.2(EYS):c.6922T>C (p.Cys2308Arg)
|
|
|
NM_001142800.2(EYS):c.6922del (p.Cys2308fs)
|
|
|
NM_001142800.2(EYS):c.6928C>T (p.Leu2310=)
|
rs1470569799
|
|
NM_001142800.2(EYS):c.6934C>A (p.Leu2312Ile)
|
rs564315274
|
|
NM_001142800.2(EYS):c.6938A>C (p.Gln2313Pro)
|
|
|
NM_001142800.2(EYS):c.6939A>G (p.Gln2313=)
|
|
|
NM_001142800.2(EYS):c.6948C>G (p.Asn2316Lys)
|
|
|
NM_001142800.2(EYS):c.694A>G (p.Arg232Gly)
|
|
|
NM_001142800.2(EYS):c.694del (p.Arg232fs)
|
|
|
NM_001142800.2(EYS):c.6952G>A (p.Glu2318Lys)
|
|
|
NM_001142800.2(EYS):c.6952G>T (p.Glu2318Ter)
|
|
|
NM_001142800.2(EYS):c.6953A>T (p.Glu2318Val)
|
rs1309758535
|
|
NM_001142800.2(EYS):c.6954A>C (p.Glu2318Asp)
|
rs1280775639
|
|
NM_001142800.2(EYS):c.6955TTC[1] (p.Phe2320del)
|
|
|
NM_001142800.2(EYS):c.695G>A (p.Arg232Lys)
|
rs139634679
|
|
NM_001142800.2(EYS):c.695G>T (p.Arg232Ile)
|
|
|
NM_001142800.2(EYS):c.6961ATC[1] (p.Ile2322del)
|
rs2149792286
|
|
NM_001142800.2(EYS):c.6962T>C (p.Ile2321Thr)
|
rs2149792294
|
|
NM_001142800.2(EYS):c.6979C>T (p.His2327Tyr)
|
|
|
NM_001142800.2(EYS):c.697G>T (p.Glu233Ter)
|
rs866997713
|
|
NM_001142800.2(EYS):c.6981T>C (p.His2327=)
|
rs2149792275
|
|
NM_001142800.2(EYS):c.6984A>G (p.Gly2328=)
|
|
|
NM_001142800.2(EYS):c.6987G>C (p.Lys2329Asn)
|
|
|
NM_001142800.2(EYS):c.6T>C (p.Thr2=)
|
rs2127272020
|
|
NM_001142800.2(EYS):c.7008C>A (p.Val2336=)
|
|
|
NM_001142800.2(EYS):c.7008C>G (p.Val2336=)
|
|
|
NM_001142800.2(EYS):c.7010C>T (p.Pro2337Leu)
|
|
|
NM_001142800.2(EYS):c.7013G>A (p.Trp2338Ter)
|
rs1231505438
|
|
NM_001142800.2(EYS):c.7013G>T (p.Trp2338Leu)
|
|
|
NM_001142800.2(EYS):c.7016del (p.Cys2339fs)
|
rs2149792238
|
|
NM_001142800.2(EYS):c.7019C>A (p.Ala2340Asp)
|
rs1767255412
|
|
NM_001142800.2(EYS):c.7020T>C (p.Ala2340=)
|
rs1582079748
|
|
NM_001142800.2(EYS):c.7029G>A (p.Leu2343=)
|
rs2149792224
|
|
NM_001142800.2(EYS):c.702T>C (p.Asn234=)
|
rs2127270826
|
|
NM_001142800.2(EYS):c.7041T>C (p.Asn2347=)
|
|
|
NM_001142800.2(EYS):c.7047C>A (p.Thr2349=)
|
rs1767253468
|
|
NM_001142800.2(EYS):c.7048T>A (p.Cys2350Ser)
|
rs935531910
|
|
NM_001142800.2(EYS):c.7048del (p.Cys2350fs)
|
rs527236069
|
|
NM_001142800.2(EYS):c.7053C>T (p.Ile2351=)
|
rs377036936
|
|
NM_001142800.2(EYS):c.7055+10A>C
|
|
|
NM_001142800.2(EYS):c.7055+10A>G
|
|
|
NM_001142800.2(EYS):c.7055+12T>C
|
rs897188278
|
|
NM_001142800.2(EYS):c.7055+16C>T
|
|
|
NM_001142800.2(EYS):c.7055+1G>A
|
rs1582079626
|
|
NM_001142800.2(EYS):c.7055+2T>C
|
|
|
NM_001142800.2(EYS):c.7056-10C>T
|
rs1772621475
|
|
NM_001142800.2(EYS):c.7056-11del
|
|
|
NM_001142800.2(EYS):c.7056-11dup
|
rs2149709768
|
|
NM_001142800.2(EYS):c.7056-18A>T
|
|
|
NM_001142800.2(EYS):c.7056-1G>C
|
rs1772620934
|
|
NM_001142800.2(EYS):c.7056-2A>C
|
rs1772621012
|
|
NM_001142800.2(EYS):c.7056-2A>G
|
rs1772621012
|
|
NM_001142800.2(EYS):c.7056-3C>T
|
|
|
NM_001142800.2(EYS):c.7056-7T>G
|
|
|
NM_001142800.2(EYS):c.7056-9C>A
|
|
|
NM_001142800.2(EYS):c.7068T>C (p.Asn2356=)
|
|
|
NM_001142800.2(EYS):c.7071G>A (p.Leu2357=)
|
rs1440203963
|
|
NM_001142800.2(EYS):c.7073_7081dup (p.Phe2358_Glu2360dup)
|
rs1372494388
|
|
NM_001142800.2(EYS):c.7074T>C (p.Phe2358=)
|
rs1772620298
|
|
NM_001142800.2(EYS):c.7085del (p.Pro2362fs)
|
|
|
NM_001142800.2(EYS):c.7103A>G (p.Lys2368Arg)
|
rs2149709736
|
|
NM_001142800.2(EYS):c.7105C>T (p.Leu2369=)
|
rs2149709733
|
|
NM_001142800.2(EYS):c.7107G>C (p.Leu2369=)
|
|
|
NM_001142800.2(EYS):c.7110C>T (p.Cys2370=)
|
rs1481791270
|
|
NM_001142800.2(EYS):c.7115T>A (p.Phe2372Tyr)
|
|
|
NM_001142800.2(EYS):c.7117G>C (p.Ala2373Pro)
|
rs372512515
|
|
NM_001142800.2(EYS):c.7125T>C (p.Cys2375=)
|
rs2149709718
|
|
NM_001142800.2(EYS):c.712C>T (p.Gln238Ter)
|
rs1212010105
|
|
NM_001142800.2(EYS):c.7137A>G (p.Pro2379=)
|
|
|
NM_001142800.2(EYS):c.7140T>G (p.Cys2380Trp)
|
|
|
NM_001142800.2(EYS):c.7142G>A (p.Gly2381Glu)
|
|
|
NM_001142800.2(EYS):c.7147G>A (p.Gly2383Ser)
|
rs1374599500
|
|
NM_001142800.2(EYS):c.7150G>A (p.Ala2384Thr)
|
rs954585421
|
|
NM_001142800.2(EYS):c.7162C>T (p.Pro2388Ser)
|
|
|
NM_001142800.2(EYS):c.7164A>C (p.Pro2388=)
|
rs1233804845
|
|
NM_001142800.2(EYS):c.7164A>G (p.Pro2388=)
|
rs1233804845
|
|
NM_001142800.2(EYS):c.716_717delinsGC (p.Ala239Gly)
|
|
|
NM_001142800.2(EYS):c.7170C>G (p.Ser2390=)
|
rs201364943
|
|
NM_001142800.2(EYS):c.7176A>T (p.Thr2392=)
|
rs2149709693
|
|
NM_001142800.2(EYS):c.7182T>C (p.Ile2394=)
|
rs1438190625
|
|
NM_001142800.2(EYS):c.7184T>G (p.Val2395Gly)
|
rs1389763357
|
|
NM_001142800.2(EYS):c.7194C>A (p.Cys2398Ter)
|
rs2149709686
|
|
NM_001142800.2(EYS):c.7198T>C (p.Tyr2400His)
|
|
|
NM_001142800.2(EYS):c.7200T>C (p.Tyr2400=)
|
|
|
NM_001142800.2(EYS):c.7205G>A (p.Arg2402Lys)
|
rs766515998
|
|
NM_001142800.2(EYS):c.7212A>G (p.Gly2404=)
|
rs1178964789
|
|
NM_001142800.2(EYS):c.7228+10T>C
|
|
|
NM_001142800.2(EYS):c.7228+13G>A
|
|
|
NM_001142800.2(EYS):c.7228+15T>C
|
|
|
NM_001142800.2(EYS):c.7228+16T>C
|
|
|
NM_001142800.2(EYS):c.7228+16del
|
|
|
NM_001142800.2(EYS):c.7228+20A>C
|
|
|
NM_001142800.2(EYS):c.7228+7G>T
|
rs1200302625
|
|
NM_001142800.2(EYS):c.7228+8C>T
|
rs2149709665
|
|
NM_001142800.2(EYS):c.7228+9A>C
|
|
|
NM_001142800.2(EYS):c.7228G>T (p.Ala2410Ser)
|
rs915505702
|
|
NM_001142800.2(EYS):c.7228_7228+1delinsTA
|
rs1772614934
|
|
NM_001142800.2(EYS):c.7229-12G>T
|
|
|
NM_001142800.2(EYS):c.7229-1G>A
|
rs1554171033
|
|
NM_001142800.2(EYS):c.7229-1G>T
|
rs1554171033
|
|
NM_001142800.2(EYS):c.7229-5del
|
|
|
NM_001142800.2(EYS):c.7229-6del
|
rs1174597152
|
|
NM_001142800.2(EYS):c.7229-7T>G
|
rs2149679018
|
|
NM_001142800.2(EYS):c.7243C>T (p.Gln2415Ter)
|
|
|
NM_001142800.2(EYS):c.7251G>T (p.Arg2417Ser)
|
rs572836860
|
|
NM_001142800.2(EYS):c.7258G>A (p.Gly2420Ser)
|
|
|
NM_001142800.2(EYS):c.7260C>T (p.Gly2420=)
|
rs1770908773
|
|
NM_001142800.2(EYS):c.7269C>T (p.Ala2423=)
|
rs537662286
|
|
NM_001142800.2(EYS):c.7272T>C (p.Phe2424=)
|
rs567167108
|
|
NM_001142800.2(EYS):c.7281C>G (p.Thr2427=)
|
|
|
NM_001142800.2(EYS):c.7283C>A (p.Ser2428Ter)
|
rs2149678975
|
|
NM_001142800.2(EYS):c.7283C>G (p.Ser2428Ter)
|
rs2149678975
|
|
NM_001142800.2(EYS):c.7296T>A (p.Tyr2432Ter)
|
|
|
NM_001142800.2(EYS):c.7302G>A (p.Arg2434=)
|
rs2149678965
|
|
NM_001142800.2(EYS):c.7302G>C (p.Arg2434=)
|
|
|
NM_001142800.2(EYS):c.7305C>T (p.Ile2435=)
|
rs1770907276
|
|
NM_001142800.2(EYS):c.730T>C (p.Cys244Arg)
|
|
|
NM_001142800.2(EYS):c.7316G>C (p.Ser2439Thr)
|
|
|
NM_001142800.2(EYS):c.7318T>C (p.Phe2440Leu)
|
|
|
NM_001142800.2(EYS):c.731G>C (p.Cys244Ser)
|
rs1766174358
|
|
NM_001142800.2(EYS):c.7322A>G (p.His2441Arg)
|
|
|
NM_001142800.2(EYS):c.7326T>G (p.Tyr2442Ter)
|
rs1770906719
|
|
NM_001142800.2(EYS):c.732T>A (p.Cys244Ter)
|
rs1562220891
|
|
NM_001142800.2(EYS):c.7332C>T (p.Phe2444=)
|
|
|
NM_001142800.2(EYS):c.7335C>T (p.His2445=)
|
|
|
NM_001142800.2(EYS):c.7346A>T (p.Gln2449Leu)
|
rs2149678948
|
|
NM_001142800.2(EYS):c.734A>G (p.His245Arg)
|
|
|
NM_001142800.2(EYS):c.7359C>T (p.Asn2453=)
|
rs748614028
|
|
NM_001142800.2(EYS):c.7361_7362dup (p.Ser2455fs)
|
|
|
NM_001142800.2(EYS):c.7365A>G (p.Ser2455=)
|
|
|
NM_001142800.2(EYS):c.7368A>G (p.Ala2456=)
|
|
|
NM_001142800.2(EYS):c.7369C>T (p.Leu2457=)
|
rs551500915
|
|
NM_001142800.2(EYS):c.7371G>T (p.Leu2457=)
|
rs1228795659
|
|
NM_001142800.2(EYS):c.737C>T (p.Pro246Leu)
|
|
|
NM_001142800.2(EYS):c.737del (p.Pro246fs)
|
rs2127270768
|
|
NM_001142800.2(EYS):c.7385dup (p.Phe2463fs)
|
|
|
NM_001142800.2(EYS):c.7392T>A (p.Phe2464Leu)
|
rs754984757
|
|
NM_001142800.2(EYS):c.7392dup (p.Thr2465fs)
|
rs1770904723
|
|
NM_001142800.2(EYS):c.7401G>A (p.Gln2467=)
|
|
|
NM_001142800.2(EYS):c.7407C>A (p.Gly2469=)
|
rs780311041
|
|
NM_001142800.2(EYS):c.7411+13G>A
|
|
|
NM_001142800.2(EYS):c.7411+16C>A
|
|
|
NM_001142800.2(EYS):c.7411+20C>G
|
|
|
NM_001142800.2(EYS):c.7411+7T>C
|
|
|
NM_001142800.2(EYS):c.7411+8T>A
|
rs1438024536
|
|
NM_001142800.2(EYS):c.7411+9A>C
|
|
|
NM_001142800.2(EYS):c.7412-16del
|
rs2149670956
|
|
NM_001142800.2(EYS):c.7412-17G>A
|
rs2149670957
|
|
NM_001142800.2(EYS):c.7412-18T>C
|
|
|
NM_001142800.2(EYS):c.7412-1G>A
|
rs1167742176
|
|
NM_001142800.2(EYS):c.7412-20C>T
|
|
|
NM_001142800.2(EYS):c.7412-20del
|
|
|
NM_001142800.2(EYS):c.7412-2A>G
|
rs2149670951
|
|
NM_001142800.2(EYS):c.7412-8C>T
|
|
|
NM_001142800.2(EYS):c.7412-9T>C
|
|
|
NM_001142800.2(EYS):c.7414T>C (p.Leu2472=)
|
rs1582208836
|
|
NM_001142800.2(EYS):c.741A>G (p.Pro247=)
|
|
|
NM_001142800.2(EYS):c.7423G>A (p.Asp2475Asn)
|
rs140594243
|
|
NM_001142800.2(EYS):c.7430_7433del (p.Phe2477fs)
|
|
|
NM_001142800.2(EYS):c.7433T>G (p.Leu2478Arg)
|
|
|
NM_001142800.2(EYS):c.7437T>G (p.Ala2479=)
|
|
|
NM_001142800.2(EYS):c.7439T>C (p.Val2480Ala)
|
|
|
NM_001142800.2(EYS):c.7441G>C (p.Gly2481Arg)
|
|
|
NM_001142800.2(EYS):c.7447dup (p.Leu2483fs)
|
|
|
NM_001142800.2(EYS):c.744T>C (p.Phe248=)
|
rs768173246
|
|
NM_001142800.2(EYS):c.744T>G (p.Phe248Leu)
|
|
|
NM_001142800.2(EYS):c.7455C>T (p.Gly2485=)
|
|
|
NM_001142800.2(EYS):c.7456A>T (p.Ser2486Cys)
|
rs2149670919
|
|
NM_001142800.2(EYS):c.7458T>C (p.Ser2486=)
|
|
|
NM_001142800.2(EYS):c.7460_7461del (p.Val2487fs)
|
|
|
NM_001142800.2(EYS):c.7461G>A (p.Val2487=)
|
rs1582208753
|
|
NM_001142800.2(EYS):c.7467T>C (p.Tyr2489=)
|
|
|
NM_001142800.2(EYS):c.7476C>T (p.Asn2492=)
|
|
|
NM_001142800.2(EYS):c.748+16A>G
|
|
|
NM_001142800.2(EYS):c.748+17T>C
|
|
|
NM_001142800.2(EYS):c.748+1G>A
|
rs1766169568
|
|
NM_001142800.2(EYS):c.748+7T>G
|
|
|
NM_001142800.2(EYS):c.748+8T>A
|
rs908158495
|
|
NM_001142800.2(EYS):c.748+8del
|
rs2127270735
|
|
NM_001142800.2(EYS):c.748+9G>A
|
|
|
NM_001142800.2(EYS):c.7482G>T (p.Gly2494=)
|
rs1276511581
|
|
NM_001142800.2(EYS):c.748G>T (p.Gly250Ter)
|
|
|
NM_001142800.2(EYS):c.749-10A>T
|
|
|
NM_001142800.2(EYS):c.749-12del
|
|
|
NM_001142800.2(EYS):c.749-12dup
|
|
|
NM_001142800.2(EYS):c.749-15T>G
|
|
|
NM_001142800.2(EYS):c.749-16T>A
|
|
|
NM_001142800.2(EYS):c.749-18T>A
|
|
|
NM_001142800.2(EYS):c.749-19C>T
|
|
|
NM_001142800.2(EYS):c.749-1G>A
|
rs368159852
|
|
NM_001142800.2(EYS):c.749-1G>C
|
rs368159852
|
|
NM_001142800.2(EYS):c.749-20A>C
|
|
|
NM_001142800.2(EYS):c.749-20del
|
rs751379141
|
|
NM_001142800.2(EYS):c.749-20dup
|
rs751379141
|
|
NM_001142800.2(EYS):c.749-2A>G
|
rs1766011028
|
|
NM_001142800.2(EYS):c.749-4A>C
|
rs755100802
|
|
NM_001142800.2(EYS):c.749-8T>C
|
|
|
NM_001142800.2(EYS):c.7497C>T (p.Ser2499=)
|
|
|
NM_001142800.2(EYS):c.7501A>G (p.Arg2501Gly)
|
|
|
NM_001142800.2(EYS):c.750A>G (p.Gly250=)
|
|
|
NM_001142800.2(EYS):c.7510C>A (p.Pro2504Thr)
|
|
|
NM_001142800.2(EYS):c.7517A>T (p.Asn2506Ile)
|
|
|
NM_001142800.2(EYS):c.7530A>G (p.Gly2510=)
|
rs2149670876
|
|
NM_001142800.2(EYS):c.7533C>A (p.Val2511=)
|
rs1181640297
|
|
NM_001142800.2(EYS):c.7538C>A (p.Thr2513Asn)
|
|
|
NM_001142800.2(EYS):c.7540_7541del (p.Val2514fs)
|
rs2149670871
|
|
NM_001142800.2(EYS):c.7549G>A (p.Gly2517Ser)
|
rs199754359
|
|
NM_001142800.2(EYS):c.7550_7554del (p.Gly2517fs)
|
|
|
NM_001142800.2(EYS):c.7551C>A (p.Gly2517=)
|
rs2149670865
|
|
NM_001142800.2(EYS):c.7551C>G (p.Gly2517=)
|
|
|
NM_001142800.2(EYS):c.7559T>C (p.Phe2520Ser)
|
rs2149670858
|
|
NM_001142800.2(EYS):c.7570del (p.Trp2524fs)
|
|
|
NM_001142800.2(EYS):c.7571G>A (p.Trp2524Ter)
|
rs2149670847
|
|
NM_001142800.2(EYS):c.7572G>A (p.Trp2524Ter)
|
rs902462590
|
|
NM_001142800.2(EYS):c.7573C>T (p.Leu2525=)
|
|
|
NM_001142800.2(EYS):c.7575G>T (p.Leu2525=)
|
rs2149670844
|
|
NM_001142800.2(EYS):c.7578+11A>C
|
|
|
NM_001142800.2(EYS):c.7578+15C>T
|
|
|
NM_001142800.2(EYS):c.7578+19G>C
|
|
|
NM_001142800.2(EYS):c.7578+3A>G
|
|
|
NM_001142800.2(EYS):c.7578+5A>G
|
rs1770441002
|
|
NM_001142800.2(EYS):c.7578+7A>G
|
rs1020797365
|
|
NM_001142800.2(EYS):c.7578+8G>C
|
|
|
NM_001142800.2(EYS):c.7579-11dup
|
rs1044534941
|
|
NM_001142800.2(EYS):c.7579-12del
|
|
|
NM_001142800.2(EYS):c.7579-12dup
|
rs752462530
|
|
NM_001142800.2(EYS):c.7579-17T>A
|
|
|
NM_001142800.2(EYS):c.7579-18T>A
|
|
|
NM_001142800.2(EYS):c.7579-18T>G
|
|
|
NM_001142800.2(EYS):c.7579-19T>C
|
|
|
NM_001142800.2(EYS):c.7579-1G>T
|
|
|
NM_001142800.2(EYS):c.7579-4G>A
|
rs1320489387
|
|
NM_001142800.2(EYS):c.7579-4G>T
|
|
|
NM_001142800.2(EYS):c.7579-6T>A
|
|
|
NM_001142800.2(EYS):c.7579-9C>T
|
rs897499177
|
|
NM_001142800.2(EYS):c.7583del (p.Asp2528fs)
|
|
|
NM_001142800.2(EYS):c.7585G>A (p.Asp2529Asn)
|
|
|
NM_001142800.2(EYS):c.7596T>C (p.Asn2532=)
|
rs2149670404
|
|
NM_001142800.2(EYS):c.7597A>T (p.Lys2533Ter)
|
rs114512007
|
|
NM_001142800.2(EYS):c.759C>G (p.Cys253Trp)
|
|
|
NM_001142800.2(EYS):c.7602C>A (p.Ser2534=)
|
|
|
NM_001142800.2(EYS):c.7602C>G (p.Ser2534=)
|
|
|
NM_001142800.2(EYS):c.7609G>T (p.Ala2537Ser)
|
rs189406424
|
|
NM_001142800.2(EYS):c.7610C>T (p.Ala2537Val)
|
rs1770416806
|
|
NM_001142800.2(EYS):c.7611C>T (p.Ala2537=)
|
|
|
NM_001142800.2(EYS):c.7617A>G (p.Gly2539=)
|
|
|
NM_001142800.2(EYS):c.7624del (p.Val2542fs)
|
|
|
NM_001142800.2(EYS):c.7627G>A (p.Gly2543Ser)
|
rs1770415980
|
|
NM_001142800.2(EYS):c.7645_7646del (p.Gln2549fs)
|
rs2149670368
|
|
NM_001142800.2(EYS):c.7650T>C (p.Phe2550=)
|
|
|
NM_001142800.2(EYS):c.7656A>G (p.Val2552=)
|
|
|
NM_001142800.2(EYS):c.7658G>A (p.Gly2553Asp)
|
rs2149670360
|
|
NM_001142800.2(EYS):c.7665C>T (p.Tyr2555=)
|
rs2149670358
|
|
NM_001142800.2(EYS):c.7666A>G (p.Ser2556Gly)
|
|
|
NM_001142800.2(EYS):c.7667G>A (p.Ser2556Asn)
|
|
|
NM_001142800.2(EYS):c.7672T>C (p.Tyr2558His)
|
rs2149670342
|
|
NM_001142800.2(EYS):c.7675A>G (p.Thr2559Ala)
|
rs1770414715
|
|
NM_001142800.2(EYS):c.7684C>G (p.Leu2562Val)
|
rs1770414327
|
|
NM_001142800.2(EYS):c.7689A>G (p.Leu2563=)
|
rs1450993106
|
|
NM_001142800.2(EYS):c.7695T>C (p.Asn2565=)
|
|
|
NM_001142800.2(EYS):c.7696G>T (p.Gly2566Ter)
|
|
|
NM_001142800.2(EYS):c.7698A>G (p.Gly2566=)
|
|
|
NM_001142800.2(EYS):c.769A>G (p.Ile257Val)
|
rs2127266533
|
|
NM_001142800.2(EYS):c.7700_7702del (p.Ala2567del)
|
rs371899196
|
|
NM_001142800.2(EYS):c.7701A>C (p.Ala2567=)
|
rs1582207658
|
|
NM_001142800.2(EYS):c.7708A>T (p.Lys2570Ter)
|
|
|
NM_001142800.2(EYS):c.7716T>C (p.Gly2572=)
|
|
|
NM_001142800.2(EYS):c.7719T>C (p.Phe2573=)
|
rs1224190792
|
|
NM_001142800.2(EYS):c.7723+13C>T
|
|
|
NM_001142800.2(EYS):c.7723+14A>G
|
|
|
NM_001142800.2(EYS):c.7723+1G>A
|
rs1770412895
|
|
NM_001142800.2(EYS):c.7723+2T>G
|
rs2149670301
|
|
NM_001142800.2(EYS):c.7724-2A>G
|
rs1770114606
|
|
NM_001142800.2(EYS):c.7724-4C>T
|
rs1582197606
|
|
NM_001142800.2(EYS):c.7724-6T>C
|
rs1770114815
|
|
NM_001142800.2(EYS):c.7727G>C (p.Cys2576Ser)
|
|
|
NM_001142800.2(EYS):c.7736_7742del (p.Thr2579fs)
|
rs1431427428
|
|
NM_001142800.2(EYS):c.7737T>G (p.Thr2579=)
|
rs191846522
|
|
NM_001142800.2(EYS):c.7746_7762del (p.Arg2583fs)
|
|
|
NM_001142800.2(EYS):c.7747C>T (p.Arg2583Cys)
|
|
|
NM_001142800.2(EYS):c.7748G>A (p.Arg2583His)
|
rs564020009
|
|
NM_001142800.2(EYS):c.7748G>T (p.Arg2583Leu)
|
|
|
NM_001142800.2(EYS):c.7749C>T (p.Arg2583=)
|
rs2149664363
|
|
NM_001142800.2(EYS):c.7758G>A (p.Lys2586=)
|
rs2149664358
|
|
NM_001142800.2(EYS):c.775C>T (p.Gln259Ter)
|
|
|
NM_001142800.2(EYS):c.7779G>C (p.Leu2593=)
|
rs1582197516
|
|
NM_001142800.2(EYS):c.7798_7802del (p.Pro2600fs)
|
rs1770112191
|
|
NM_001142800.2(EYS):c.7799C>A (p.Pro2600Gln)
|
rs2149664334
|
|
NM_001142800.2(EYS):c.7806T>C (p.Ala2602=)
|
|
|
NM_001142800.2(EYS):c.7809A>T (p.Gly2603=)
|
rs1200066004
|
|
NM_001142800.2(EYS):c.7810C>A (p.Arg2604Ser)
|
rs1015857165
|
|
NM_001142800.2(EYS):c.7812C>A (p.Arg2604=)
|
|
|
NM_001142800.2(EYS):c.7815T>C (p.Ser2605=)
|
rs2149664311
|
|
NM_001142800.2(EYS):c.7821C>G (p.Gly2607=)
|
|
|
NM_001142800.2(EYS):c.7824G>A (p.Gln2608=)
|
rs2149664299
|
|
NM_001142800.2(EYS):c.7826G>A (p.Cys2609Tyr)
|
rs755966517
|
|
NM_001142800.2(EYS):c.7826G>C (p.Cys2609Ser)
|
rs755966517
|
|
NM_001142800.2(EYS):c.7839C>A (p.Pro2613=)
|
rs2149664283
|
|
NM_001142800.2(EYS):c.7842C>T (p.Cys2614=)
|
rs374494800
|
|
NM_001142800.2(EYS):c.7869G>C (p.Gly2623=)
|
|
|
NM_001142800.2(EYS):c.786dup (p.His263fs)
|
rs1766009155
|
|
NM_001142800.2(EYS):c.7872A>G (p.Thr2624=)
|
|
|
NM_001142800.2(EYS):c.7874G>T (p.Cys2625Phe)
|
|
|
NM_001142800.2(EYS):c.7876A>G (p.Ile2626Val)
|
rs2149664250
|
|
NM_001142800.2(EYS):c.7883G>A (p.Ser2628Asn)
|
|
|
NM_001142800.2(EYS):c.7886G>C (p.Gly2629Ala)
|
rs2149664242
|
|
NM_001142800.2(EYS):c.7888del (p.Thr2630fs)
|
rs2149664241
|
|
NM_001142800.2(EYS):c.7898+10A>G
|
rs1582197337
|
|
NM_001142800.2(EYS):c.7898+11C>A
|
|
|
NM_001142800.2(EYS):c.7898+11C>T
|
|
|
NM_001142800.2(EYS):c.7898+12_7898+14del
|
rs2149664227
|
|
NM_001142800.2(EYS):c.7898+13T>C
|
|
|
NM_001142800.2(EYS):c.7898+15A>C
|
|
|
NM_001142800.2(EYS):c.7898+1G>A
|
rs1206861190
|
|
NM_001142800.2(EYS):c.7898+20G>A
|
|
|
NM_001142800.2(EYS):c.7898+9G>C
|
|
|
NM_001142800.2(EYS):c.7899-16_7899-15del
|
|
|
NM_001142800.2(EYS):c.7899-17T>C
|
|
|
NM_001142800.2(EYS):c.7899-6C>T
|
|
|
NM_001142800.2(EYS):c.7905T>C (p.Asn2635=)
|
|
|
NM_001142800.2(EYS):c.7908T>C (p.Cys2636=)
|
rs1769674017
|
|
NM_001142800.2(EYS):c.7911C>G (p.Thr2637=)
|
rs1562014368
|
|
NM_001142800.2(EYS):c.7911C>T (p.Thr2637=)
|
rs1562014368
|
|
NM_001142800.2(EYS):c.7914T>G (p.Thr2638=)
|
|
|
NM_001142800.2(EYS):c.7915G>C (p.Gly2639Arg)
|
|
|
NM_001142800.2(EYS):c.7917G>A (p.Gly2639=)
|
|
|
NM_001142800.2(EYS):c.792C>T (p.Val264=)
|
|
|
NM_001142800.2(EYS):c.7935C>T (p.Cys2645=)
|
|
|
NM_001142800.2(EYS):c.7938A>G (p.Thr2646=)
|
rs2149655866
|
|
NM_001142800.2(EYS):c.7941G>A (p.Glu2647=)
|
|
|
NM_001142800.2(EYS):c.7943_7944del (p.Thr2648fs)
|
rs1278985995
|
|
NM_001142800.2(EYS):c.7951A>G (p.Thr2651Ala)
|
|
|
NM_001142800.2(EYS):c.7953del (p.Cys2652fs)
|
|
|
NM_001142800.2(EYS):c.7955G>A (p.Cys2652Tyr)
|
rs1389551814
|
|
NM_001142800.2(EYS):c.7973C>T (p.Pro2658Leu)
|
|
|
NM_001142800.2(EYS):c.7974T>G (p.Pro2658=)
|
|
|
NM_001142800.2(EYS):c.7990A>T (p.Arg2664Ter)
|
|
|
NM_001142800.2(EYS):c.7995A>G (p.Gly2665=)
|
rs1217814272
|
|
NM_001142800.2(EYS):c.8004C>T (p.Cys2668=)
|
rs1705369976
|
|
NM_001142800.2(EYS):c.8008del (p.Ser2670fs)
|
|
|
NM_001142800.2(EYS):c.8015del (p.Pro2672fs)
|
|
|
NM_001142800.2(EYS):c.8022A>G (p.Gly2674=)
|
|
|
NM_001142800.2(EYS):c.8025C>T (p.Tyr2675=)
|
|
|
NM_001142800.2(EYS):c.8031T>A (p.Cys2677Ter)
|
|
|
NM_001142800.2(EYS):c.803del (p.Gly268fs)
|
rs1766006937
|
|
NM_001142800.2(EYS):c.8041C>G (p.Leu2681Val)
|
rs1769668244
|
|
NM_001142800.2(EYS):c.8052T>C (p.Thr2684=)
|
rs2149655757
|
|
NM_001142800.2(EYS):c.8061C>T (p.Tyr2687=)
|
rs2149655747
|
|
NM_001142800.2(EYS):c.8064T>C (p.Cys2688=)
|
|
|
NM_001142800.2(EYS):c.8071+17A>G
|
|
|
NM_001142800.2(EYS):c.8071+5G>A
|
|
|
NM_001142800.2(EYS):c.8071+7C>A
|
|
|
NM_001142800.2(EYS):c.8072-13C>G
|
|
|
NM_001142800.2(EYS):c.8072-15C>T
|
|
|
NM_001142800.2(EYS):c.8072-17T>C
|
|
|
NM_001142800.2(EYS):c.8072-18T>C
|
|
|
NM_001142800.2(EYS):c.8072-19_8072-18del
|
|
|
NM_001142800.2(EYS):c.8072-1G>T
|
|
|
NM_001142800.2(EYS):c.8072-2A>G
|
|
|
NM_001142800.2(EYS):c.8072-6C>T
|
rs2149631949
|
|
NM_001142800.2(EYS):c.8082A>C (p.Ile2694=)
|
|
|
NM_001142800.2(EYS):c.8088T>C (p.Asp2696=)
|
|
|
NM_001142800.2(EYS):c.808T>C (p.Cys270Arg)
|
rs2127266453
|
|
NM_001142800.2(EYS):c.8092T>A (p.Ser2698Thr)
|
rs2149631916
|
|
NM_001142800.2(EYS):c.8092T>C (p.Ser2698Pro)
|
|
|
NM_001142800.2(EYS):c.8098A>T (p.Arg2700Ter)
|
|
|
NM_001142800.2(EYS):c.8102del (p.Ser2701fs)
|
rs2149631907
|
|
NM_001142800.2(EYS):c.8104A>C (p.Asn2702His)
|
rs1768627778
|
|
NM_001142800.2(EYS):c.8109G>A (p.Glu2703=)
|
rs1392872599
|
|
NM_001142800.2(EYS):c.810C>A (p.Cys270Ter)
|
rs2127266443
|
|
NM_001142800.2(EYS):c.810del (p.Asn269_Cys270insTer)
|
|
|
NM_001142800.2(EYS):c.8113T>C (p.Ser2705Pro)
|
rs1325363549
|
|
NM_001142800.2(EYS):c.8114C>G (p.Ser2705Cys)
|
rs1230647637
|
|
NM_001142800.2(EYS):c.8115C>A (p.Ser2705=)
|
|
|
NM_001142800.2(EYS):c.8115C>G (p.Ser2705=)
|
rs868203134
|
|
NM_001142800.2(EYS):c.8124T>C (p.Ser2708=)
|
rs2149631870
|
|
NM_001142800.2(EYS):c.8128G>T (p.Ala2710Ser)
|
rs750011709
|
|
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs)
|
rs751629543
|
|
NM_001142800.2(EYS):c.8139T>C (p.His2713=)
|
rs1768626166
|
|
NM_001142800.2(EYS):c.8150del (p.Lys2717fs)
|
rs1251637752
|
|
NM_001142800.2(EYS):c.8151G>T (p.Lys2717Asn)
|
rs983603381
|
|
NM_001142800.2(EYS):c.8155_8156del (p.His2719fs)
|
rs764229134
|
|
NM_001142800.2(EYS):c.8158_8159del (p.Ile2720fs)
|
rs2149631831
|
|
NM_001142800.2(EYS):c.8159T>C (p.Ile2720Thr)
|
rs756985941
|
|
NM_001142800.2(EYS):c.8162A>C (p.Gln2721Pro)
|
|
|
NM_001142800.2(EYS):c.8164T>C (p.Leu2722=)
|
|
|
NM_001142800.2(EYS):c.8169G>A (p.Gln2723=)
|
|
|
NM_001142800.2(EYS):c.8178T>G (p.Pro2726=)
|
rs767955491
|
|
NM_001142800.2(EYS):c.8184T>C (p.Ala2728=)
|
|
|
NM_001142800.2(EYS):c.8184T>G (p.Ala2728=)
|
rs1582145928
|
|
NM_001142800.2(EYS):c.8185G>A (p.Ala2729Thr)
|
|
|
NM_001142800.2(EYS):c.8187A>G (p.Ala2729=)
|
rs2149631783
|
|
NM_001142800.2(EYS):c.8189A>G (p.Asp2730Gly)
|
rs1768623734
|
|
NM_001142800.2(EYS):c.8189dup (p.Asp2730fs)
|
rs2149631777
|
|
NM_001142800.2(EYS):c.8193T>C (p.Gly2731=)
|
|
|
NM_001142800.2(EYS):c.8196C>A (p.Ile2732=)
|
|
|
NM_001142800.2(EYS):c.8196C>T (p.Ile2732=)
|
|
|
NM_001142800.2(EYS):c.8199A>G (p.Leu2733=)
|
|
|
NM_001142800.2(EYS):c.81A>G (p.Gln27=)
|
|
|
NM_001142800.2(EYS):c.8203T>C (p.Tyr2735His)
|
rs1768623493
|
|
NM_001142800.2(EYS):c.8208T>C (p.Ala2736=)
|
rs1582145891
|
|
NM_001142800.2(EYS):c.8210C>T (p.Ala2737Val)
|
rs1481779086
|
|
NM_001142800.2(EYS):c.8211A>C (p.Ala2737=)
|
rs1011193191
|
|
NM_001142800.2(EYS):c.8211A>G (p.Ala2737=)
|
rs1011193191
|
|
NM_001142800.2(EYS):c.8217C>A (p.His2739Gln)
|
rs773389004
|
|
NM_001142800.2(EYS):c.8217C>T (p.His2739=)
|
|
|
NM_001142800.2(EYS):c.8218T>C (p.Leu2740=)
|
rs2149631727
|
|
NM_001142800.2(EYS):c.8223del (p.Ala2742fs)
|
|
|
NM_001142800.2(EYS):c.822T>C (p.Thr274=)
|
rs2127266431
|
|
NM_001142800.2(EYS):c.8230T>C (p.Ser2744Pro)
|
rs1768622052
|
|
NM_001142800.2(EYS):c.8233+15C>T
|
|
|
NM_001142800.2(EYS):c.8233+17G>C
|
|
|
NM_001142800.2(EYS):c.8233+18T>C
|
|
|
NM_001142800.2(EYS):c.8233+19_8233+20del
|
|
|
NM_001142800.2(EYS):c.8233+1del
|
rs1768621880
|
|
NM_001142800.2(EYS):c.82T>C (p.Leu28=)
|
|
|
NM_001142800.2(EYS):c.837T>C (p.Ile279=)
|
rs2127266410
|
|
NM_001142800.2(EYS):c.839G>T (p.Cys280Phe)
|
rs1766004190
|
|
NM_001142800.2(EYS):c.843A>G (p.Glu281=)
|
|
|
NM_001142800.2(EYS):c.846T>C (p.Cys282=)
|
|
|
NM_001142800.2(EYS):c.849T>C (p.Asp283=)
|
|
|
NM_001142800.2(EYS):c.852G>A (p.Glu284=)
|
rs2127266382
|
|
NM_001142800.2(EYS):c.855A>G (p.Gln285=)
|
rs2127266373
|
|
NM_001142800.2(EYS):c.862+10G>C
|
rs2127266343
|
|
NM_001142800.2(EYS):c.862+13T>C
|
|
|
NM_001142800.2(EYS):c.862+14A>G
|
|
|
NM_001142800.2(EYS):c.862+15T>C
|
rs2127266325
|
|
NM_001142800.2(EYS):c.862+18A>C
|
rs2127266320
|
|
NM_001142800.2(EYS):c.862+18A>G
|
|
|
NM_001142800.2(EYS):c.862+1G>A
|
|
|
NM_001142800.2(EYS):c.862+2T>C
|
|
|
NM_001142800.2(EYS):c.862+8dup
|
|
|
NM_001142800.2(EYS):c.862+9T>G
|
|
|
NM_001142800.2(EYS):c.863-13T>C
|
|
|
NM_001142800.2(EYS):c.863-16G>A
|
|
|
NM_001142800.2(EYS):c.863-16_872del
|
|
|
NM_001142800.2(EYS):c.863-18G>C
|
|
|
NM_001142800.2(EYS):c.863-18G>T
|
|
|
NM_001142800.2(EYS):c.863-19T>C
|
|
|
NM_001142800.2(EYS):c.863-19_863-18insCTC
|
|
|
NM_001142800.2(EYS):c.863-20T>G
|
|
|
NM_001142800.2(EYS):c.863-21_863-20dup
|
|
|
NM_001142800.2(EYS):c.863-4T>A
|
rs2150365635
|
|
NM_001142800.2(EYS):c.863-4del
|
rs199517256
|
|
NM_001142800.2(EYS):c.863-4dup
|
rs199517256
|
|
NM_001142800.2(EYS):c.863-6T>C
|
|
|
NM_001142800.2(EYS):c.863-6T>G
|
|
|
NM_001142800.2(EYS):c.863-8T>C
|
rs2150365642
|
|
NM_001142800.2(EYS):c.867A>C (p.Pro289=)
|
rs746039939
|
|
NM_001142800.2(EYS):c.870C>T (p.Phe290=)
|
|
|
NM_001142800.2(EYS):c.872G>A (p.Cys291Tyr)
|
|
|
NM_001142800.2(EYS):c.873T>C (p.Cys291=)
|
|
|
NM_001142800.2(EYS):c.876G>A (p.Glu292=)
|
|
|
NM_001142800.2(EYS):c.877G>T (p.Val293Leu)
|
rs756070544
|
|
NM_001142800.2(EYS):c.882A>G (p.Ser294=)
|
|
|
NM_001142800.2(EYS):c.885A>C (p.Ala295=)
|
rs1766687516
|
|
NM_001142800.2(EYS):c.897T>G (p.Val299=)
|
rs2150365584
|
|
NM_001142800.2(EYS):c.910T>C (p.Trp304Arg)
|
rs2150365572
|
|
NM_001142800.2(EYS):c.910dup (p.Trp304fs)
|
rs34676630
|
|
NM_001142800.2(EYS):c.919G>A (p.Gly307Arg)
|
rs1766684069
|
|
NM_001142800.2(EYS):c.91G>T (p.Glu31Ter)
|
rs572189652
|
|
NM_001142800.2(EYS):c.927C>T (p.Cys309=)
|
|
|
NM_001142800.2(EYS):c.929C>G (p.Pro310Arg)
|
|
|
NM_001142800.2(EYS):c.942del (p.Ala315fs)
|
|
|
NM_001142800.2(EYS):c.951T>G (p.Thr317=)
|
rs993944802
|
|
NM_001142800.2(EYS):c.960C>T (p.Cys320=)
|
rs2150365535
|
|
NM_001142800.2(EYS):c.962C>G (p.Pro321Arg)
|
rs534421846
|
|
NM_001142800.2(EYS):c.962del (p.Pro321fs)
|
|
|
NM_001142800.2(EYS):c.963A>C (p.Pro321=)
|
rs2150365523
|
|
NM_001142800.2(EYS):c.969A>T (p.Gly323=)
|
|
|
NM_001142800.2(EYS):c.975C>T (p.Ser325=)
|
|
|
NM_001142800.2(EYS):c.975del (p.Ser326fs)
|
|
|
NM_001142800.2(EYS):c.984T>C (p.Asn328=)
|
|
|
NM_001142800.2(EYS):c.984del (p.Asn328fs)
|
rs1766679809
|
|
NM_001142800.2(EYS):c.987T>C (p.Gly329=)
|
|
|
NM_001142800.2(EYS):c.990_991del (p.Glu330fs)
|
rs1766679390
|
|
NM_001142800.2(EYS):c.993T>C (p.Thr331=)
|
|
|
NM_001142800.2(EYS):c.995A>T (p.Asp332Val)
|
|
|
NM_001142800.2(EYS):c.997G>A (p.Val333Ile)
|
|
|
NM_001142800.2(EYS):c.9C>T (p.Asp3=)
|
|
|