NM_001142800.2(EYS):c.1599+96A>C
|
rs1502963
|
0.99413
|
NM_001142800.2(EYS):c.1600-38G>A
|
rs1502965
|
0.98305
|
NM_001142800.2(EYS):c.1600-79A>G
|
rs1502964
|
0.98305
|
NM_001142800.2(EYS):c.4256T>C (p.Leu1419Ser)
|
rs624851
|
0.77065
|
NM_001142800.2(EYS):c.6191+132G>A
|
rs9362694
|
0.75800
|
NM_001142800.2(EYS):c.5928-35T>C
|
rs587278
|
0.72606
|
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.2641+198A>C
|
rs10046141
|
0.67344
|
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.1767-136T>G
|
rs9342465
|
0.49843
|
NM_001142800.2(EYS):c.2260-76G>A
|
rs9453115
|
0.39093
|
NM_001142800.2(EYS):c.6835-124A>G
|
rs1482456
|
0.37737
|
NM_001142800.2(EYS):c.7056-146_7056-145insGA
|
rs10645485
|
0.36862
|
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln)
|
rs4710457
|
0.35152
|
NM_001142800.2(EYS):c.-447-123A>C
|
rs17779372
|
0.35107
|
NM_001142800.2(EYS):c.6835-64C>T
|
rs1482457
|
0.35084
|
NM_001142800.2(EYS):c.6834+61T>G
|
rs66502009
|
0.29500
|
NM_001142800.2(EYS):c.8071+84T>G
|
rs4710257
|
0.28040
|
NM_001142800.2(EYS):c.6078+68A>G
|
rs36133910
|
0.27370
|
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.2847-221C>T
|
rs59191409
|
0.14892
|
NM_001142800.2(EYS):c.2847-157A>G
|
rs58449017
|
0.14846
|
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.3877+112T>C
|
rs16895524
|
0.10701
|
NM_001142800.2(EYS):c.5244A>C (p.Leu1748Phe)
|
rs57312007
|
0.10595
|
NM_001142800.2(EYS):c.3568+99C>A
|
rs62415853
|
0.10485
|
NM_001142800.2(EYS):c.3936A>G (p.Thr1312=)
|
rs12662610
|
0.10143
|
NM_001142800.2(EYS):c.3877+133T>A
|
rs75420781
|
0.09880
|
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.3878-92C>G
|
rs12663927
|
0.09857
|
NM_001142800.2(EYS):c.4593G>A (p.Glu1531=)
|
rs62415825
|
0.09856
|
NM_001142800.2(EYS):c.5644+131T>G
|
rs17217966
|
0.09855
|
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.3685-179A>G
|
rs17290119
|
0.09837
|
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.748+225G>A
|
rs35009856
|
0.09401
|
NM_001142800.2(EYS):c.862+87T>C
|
rs4710522
|
0.09325
|
NM_001142800.2(EYS):c.-198+83T>A
|
rs13217899
|
0.09211
|
NM_001142800.2(EYS):c.7666A>T (p.Ser2556Cys)
|
rs66462731
|
0.08861
|
NM_001142800.2(EYS):c.2846+192A>G
|
rs57706332
|
0.08761
|
NM_001142800.2(EYS):c.2846+229G>A
|
rs11754649
|
0.08752
|
NM_001142800.2(EYS):c.7723+64T>A
|
rs72886371
|
0.08145
|
NM_001142800.2(EYS):c.2137+239A>G
|
rs10455567
|
0.07589
|
NM_001142800.2(EYS):c.2137+114C>T
|
rs10455568
|
0.07557
|
NM_001142800.2(EYS):c.1766+2642A>C
|
rs12207746
|
0.07122
|
NM_001142800.2(EYS):c.1766+106T>C
|
rs61109372
|
0.06367
|
NM_001142800.2(EYS):c.2382-200G>T
|
rs41516844
|
0.04854
|
NM_001142800.2(EYS):c.2382-133T>C
|
rs74484316
|
0.04848
|
NM_001142800.2(EYS):c.3244-160G>A
|
rs140283964
|
0.04452
|
NM_001142800.2(EYS):c.1766+61A>G
|
rs76148513
|
0.04429
|
NM_001142800.2(EYS):c.-197-86T>C
|
rs41273633
|
0.04258
|
NM_001142800.2(EYS):c.5836-41G>A
|
rs73767811
|
0.04182
|
NM_001142800.2(EYS):c.1767-74G>A
|
rs77126533
|
0.03956
|
NM_001142800.2(EYS):c.7055+31C>T
|
rs59755848
|
0.03511
|
NM_001142800.2(EYS):c.6079-82C>A
|
rs56884225
|
0.03374
|
NM_001142800.2(EYS):c.6191+210A>T
|
rs79945794
|
0.03323
|
NM_001142800.2(EYS):c.1766+2778T>G
|
rs79262713
|
0.02874
|
NM_001142800.2(EYS):c.1600-176A>G
|
rs73741294
|
0.02873
|
NM_001142800.2(EYS):c.3444-86G>A
|
rs6939915
|
0.02727
|
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.2260-234C>G
|
rs73767192
|
0.02437
|
NM_001142800.2(EYS):c.2642-136G>A
|
rs79920226
|
0.02057
|
NM_001142800.2(EYS):c.1599+180C>T
|
rs78419333
|
0.01946
|
NM_001142800.2(EYS):c.2733T>C (p.Asn911=)
|
rs75634595
|
0.01917
|
NM_001142800.2(EYS):c.2846+174T>G
|
rs142709378
|
0.01911
|
NM_001142800.2(EYS):c.-448+133A>C
|
rs78321112
|
0.01671
|
NM_001142800.2(EYS):c.748+52T>C
|
rs141159211
|
0.01611
|
NM_001142800.2(EYS):c.5927+44A>G
|
rs145170471
|
0.01608
|
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.777G>A (p.Gln259=)
|
rs78079047
|
0.01169
|
NM_001142800.2(EYS):c.5044G>T (p.Asp1682Tyr)
|
rs75831552
|
0.01062
|
NM_001142800.2(EYS):c.3843A>C (p.Ile1281=)
|
rs199667034
|
0.01016
|
NM_001142800.2(EYS):c.4093A>G (p.Lys1365Glu)
|
rs16895519
|
0.00905
|
NM_001142800.2(EYS):c.6079-23C>A
|
rs149568304
|
0.00892
|
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.977G>A (p.Ser326Asn)
|
rs112822256
|
0.00379
|
NM_001142800.2(EYS):c.7578+18C>T
|
rs147210136
|
0.00376
|
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.2641+35A>G
|
rs117137733
|
0.00237
|
NM_001142800.2(EYS):c.3329C>G (p.Thr1110Ser)
|
rs143327210
|
0.00223
|
NM_001142800.2(EYS):c.-337T>A
|
rs145321084
|
0.00201
|
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp)
|
rs201580493
|
0.00166
|
NM_001142800.2(EYS):c.6632C>T (p.Ser2211Leu)
|
rs145623359
|
0.00148
|
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.5743A>G (p.Ser1915Gly)
|
rs188093810
|
0.00124
|
NM_001142800.2(EYS):c.2039T>C (p.Ile680Thr)
|
rs376807770
|
0.00108
|
NM_001142800.2(EYS):c.1599+13T>C
|
rs182876572
|
0.00058
|
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.1852G>A (p.Gly618Ser)
|
rs142450703
|
0.00043
|
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.3443+1G>T
|
rs373441420
|
0.00022
|
NM_001142800.2(EYS):c.4991C>T (p.Thr1664Ile)
|
rs561830314
|
0.00021
|
NM_001142800.2(EYS):c.1673G>A (p.Trp558Ter)
|
rs201823777
|
0.00012
|
NM_001142800.2(EYS):c.1382G>A (p.Cys461Tyr)
|
rs76754818
|
0.00011
|
NM_001142800.2(EYS):c.1107C>T (p.Ser369=)
|
rs755023434
|
0.00008
|
NM_001142800.2(EYS):c.5928-2A>G
|
rs181169439
|
0.00008
|
NM_001142800.2(EYS):c.7811G>A (p.Arg2604His)
|
rs368798160
|
0.00007
|
NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter)
|
rs760798455
|
0.00006
|
NM_001142800.2(EYS):c.6473T>C (p.Leu2158Pro)
|
rs777735735
|
0.00005
|
NM_001142800.2(EYS):c.6763A>G (p.Met2255Val)
|
rs1015509320
|
0.00004
|
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter)
|
rs398123575
|
0.00004
|
NM_001142800.2(EYS):c.7810C>T (p.Arg2604Cys)
|
rs1015857165
|
0.00003
|
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter)
|
rs779983752
|
0.00003
|
NM_001142800.2(EYS):c.1766+1G>T
|
rs776204925
|
0.00002
|
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu)
|
rs74419361
|
0.00002
|
NM_001142800.2(EYS):c.32dup (p.Met12fs)
|
rs779372264
|
0.00002
|
NM_001142800.2(EYS):c.1766+2777T>C
|
rs1191955188
|
0.00001
|
NM_001142800.2(EYS):c.2811C>A (p.Cys937Ter)
|
rs1466666397
|
0.00001
|
NM_001142800.2(EYS):c.2992+12T>A
|
rs1064794365
|
0.00001
|
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter)
|
rs930421180
|
0.00001
|
NM_001142800.2(EYS):c.5505A>C (p.Ser1835=)
|
rs1172059380
|
0.00001
|
NM_001142800.2(EYS):c.5644+5G>A
|
rs794727412
|
0.00001
|
NM_001142800.2(EYS):c.5651G>A (p.Ser1884Asn)
|
rs1045693834
|
0.00001
|
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter)
|
rs797045089
|
0.00001
|
NM_001142800.2(EYS):c.6726-12T>C
|
rs545960584
|
0.00001
|
NM_001142800.2(EYS):c.6911G>A (p.Gly2304Glu)
|
rs773046364
|
0.00001
|
NM_001142800.2(EYS):c.7654del (p.Tyr2551_Val2552insTer)
|
rs1064796020
|
0.00001
|
NM_001142800.2(EYS):c.7899C>A (p.Tyr2633Ter)
|
rs1197863938
|
0.00001
|
NM_001142800.2(EYS):c.8035T>G (p.Cys2679Gly)
|
rs1064797324
|
0.00001
|
GRCh38/hg38 6q12(chr6:65084129-65104371)x1
|
|
|
NC_000006.12:g.65707335C>A
|
|
|
NM_001142800.2(EYS):c.1219A>G (p.Lys407Glu)
|
|
|
NM_001142800.2(EYS):c.1274G>A (p.Cys425Tyr)
|
rs1064796021
|
|
NM_001142800.2(EYS):c.1459+103C>T
|
rs9453265
|
|
NM_001142800.2(EYS):c.1766+156A>T
|
rs1444355508
|
|
NM_001142800.2(EYS):c.1766+2021A>G
|
rs2150312191
|
|
NM_001142800.2(EYS):c.1766+2077A>C
|
rs1360320631
|
|
NM_001142800.2(EYS):c.1766+2140G>A
|
rs2150312116
|
|
NM_001142800.2(EYS):c.1766+2170G>A
|
rs2150312095
|
|
NM_001142800.2(EYS):c.1766+2260A>G
|
rs1769840698
|
|
NM_001142800.2(EYS):c.1766+2315C>T
|
rs1352867412
|
|
NM_001142800.2(EYS):c.1766+2586C>T
|
rs1769830483
|
|
NM_001142800.2(EYS):c.1766+2783A>G
|
rs2150311626
|
|
NM_001142800.2(EYS):c.1766+2827T>C
|
rs2150311598
|
|
NM_001142800.2(EYS):c.1766+3478G>T
|
rs2150311249
|
|
NM_001142800.2(EYS):c.1766+4353T>A
|
rs2150310685
|
|
NM_001142800.2(EYS):c.2023+146del
|
rs34666704
|
|
NM_001142800.2(EYS):c.2023+15del
|
rs35045551
|
|
NM_001142800.2(EYS):c.2023+15dup
|
rs35045551
|
|
NM_001142800.2(EYS):c.2023+16_2023+17insT
|
rs1768646194
|
|
NM_001142800.2(EYS):c.2023+1G>A
|
rs980430860
|
|
NM_001142800.2(EYS):c.2024-15del
|
rs202085379
|
|
NM_001142800.2(EYS):c.2024-15dup
|
rs202085379
|
|
NM_001142800.2(EYS):c.2055T>A (p.Cys685Ter)
|
rs372354156
|
|
NM_001142800.2(EYS):c.2138-136G>A
|
rs9363312
|
|
NM_001142800.2(EYS):c.2259+10C>A
|
rs78511049
|
|
NM_001142800.2(EYS):c.2259+164del
|
rs376045129
|
|
NM_001142800.2(EYS):c.2382-26C>G
|
rs9445437
|
|
NM_001142800.2(EYS):c.2846+53_2846+54insTAAT
|
rs59518422
|
|
NM_001142800.2(EYS):c.2847-24C>T
|
rs7743515
|
|
NM_001142800.2(EYS):c.334G>A (p.Val112Ile)
|
rs112609906
|
|
NM_001142800.2(EYS):c.3443+160T>G
|
rs9345532
|
|
NM_001142800.2(EYS):c.3569-6G>T
|
rs940919017
|
|
NM_001142800.2(EYS):c.359C>T (p.Thr120Met)
|
rs12193967
|
|
NM_001142800.2(EYS):c.3775C>T (p.Gln1259Ter)
|
rs1291867456
|
|
NM_001142800.2(EYS):c.3877+17_3877+18insT
|
rs2149833245
|
|
NM_001142800.2(EYS):c.3877+18_3877+22del
|
rs139235690
|
|
NM_001142800.2(EYS):c.3877+93_3877+94del
|
rs11331907
|
|
NM_001142800.2(EYS):c.3877+94del
|
rs11331907
|
|
NM_001142800.2(EYS):c.403_423delinsCTTTT (p.Thr135fs)
|
rs1582376398
|
|
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs)
|
rs761238771
|
|
NM_001142800.2(EYS):c.4610_4611del (p.Arg1537fs)
|
rs886042613
|
|
NM_001142800.2(EYS):c.5470A>G (p.Met1824Val)
|
|
|
NM_001142800.2(EYS):c.5573T>C (p.Leu1858Pro)
|
|
|
NM_001142800.2(EYS):c.5645-102C>T
|
rs3857528
|
|
NM_001142800.2(EYS):c.5835+155T>C
|
rs3904083
|
|
NM_001142800.2(EYS):c.5944T>C (p.Cys1982Arg)
|
|
|
NM_001142800.2(EYS):c.6079-216C>T
|
|
|
NM_001142800.2(EYS):c.6079-24TC[10]
|
rs35395170
|
|
NM_001142800.2(EYS):c.6079-85A>G
|
|
|
NM_001142800.2(EYS):c.6794del (p.Pro2265fs)
|
rs758109813
|
|
NM_001142800.2(EYS):c.7056-145_7056-144dup
|
rs10638627
|
|
NM_001142800.2(EYS):c.7187G>C (p.Cys2396Ser)
|
|
|
NM_001142800.2(EYS):c.7411+95dup
|
|
|
NM_001142800.2(EYS):c.7723+1G>A
|
rs1770412895
|
|
NM_001142800.2(EYS):c.8000C>A (p.Thr2667Asn)
|
|
|
NM_001142800.2(EYS):c.8196_8200del (p.Phe2734fs)
|
rs2149631759
|
|
NM_001142800.2(EYS):c.863-20_863-19dup
|
rs751896006
|
|
NM_001142800.2(EYS):c.863-22_863-21insTTC
|
rs1554192996
|
|
NM_001142800.2(EYS):c.863-30_863-28dup
|
rs34154043
|
|
NM_001142800.2(EYS):c.863-30_863-29dup
|
rs34154043
|
|