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.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.2733T>C (p.Asn911=)
|
rs75634595
|
0.01917
|
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.5601T>C (p.Ser1867=)
|
rs182322608
|
0.00464
|
NM_001142800.2(EYS):c.281C>A (p.Pro94Gln)
|
rs111947397
|
0.00404
|
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn)
|
rs112822256
|
0.00379
|
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.988G>A (p.Glu330Lys)
|
rs144803840
|
0.00217
|
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.7737T>C (p.Thr2579=)
|
rs191846522
|
0.00175
|
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp)
|
rs201580493
|
0.00166
|
NM_001142800.2(EYS):c.1899A>G (p.Gln633=)
|
rs373197894
|
0.00153
|
NM_001142800.2(EYS):c.1184+14T>C
|
rs182780299
|
0.00132
|
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=)
|
rs772339340
|
0.00124
|
NM_001142800.2(EYS):c.4891C>T (p.Pro1631Ser)
|
rs200935518
|
0.00083
|
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser)
|
rs201652272
|
0.00066
|
NM_001142800.2(EYS):c.1599+13T>C
|
rs182876572
|
0.00058
|
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser)
|
rs142450703
|
0.00043
|
NM_001142800.2(EYS):c.3568+5T>C
|
rs539477235
|
0.00034
|
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe)
|
rs201819948
|
0.00023
|
NM_001142800.2(EYS):c.5038A>G (p.Asn1680Asp)
|
rs540546920
|
0.00013
|
NM_001142800.2(EYS):c.7608C>T (p.Ile2536=)
|
rs562496683
|
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.6416G>A (p.Cys2139Tyr)
|
rs749909863
|
0.00007
|
NM_001142800.2(EYS):c.35T>C (p.Met12Thr)
|
rs755947942
|
0.00006
|
NM_001142800.2(EYS):c.586A>C (p.Lys196Gln)
|
rs749038401
|
0.00005
|
NM_001142800.2(EYS):c.904C>T (p.Leu302Phe)
|
rs202064483
|
0.00005
|
NM_001142800.2(EYS):c.3164+7A>T
|
rs963551759
|
0.00004
|
NM_001142800.2(EYS):c.3226T>C (p.Cys1076Arg)
|
rs780935714
|
0.00004
|
NM_001142800.2(EYS):c.2886C>G (p.Phe962Leu)
|
rs766153322
|
0.00003
|
NM_001142800.2(EYS):c.7810C>T (p.Arg2604Cys)
|
rs1015857165
|
0.00003
|
NM_001142800.2(EYS):c.1999C>T (p.Arg667Cys)
|
rs765763663
|
0.00002
|
NM_001142800.2(EYS):c.1871C>T (p.Ser624Leu)
|
rs548565748
|
0.00001
|
NM_001142800.2(EYS):c.2892A>C (p.Glu964Asp)
|
rs762212630
|
0.00001
|
NM_001142800.2(EYS):c.2992+12T>A
|
rs1064794365
|
0.00001
|
NM_001142800.2(EYS):c.3443G>A (p.Arg1148Lys)
|
rs1334016191
|
0.00001
|
NM_001142800.2(EYS):c.5959A>C (p.Thr1987Pro)
|
rs1278246029
|
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.7775G>A (p.Gly2592Glu)
|
rs1471859071
|
0.00001
|
NM_001142800.2(EYS):c.939T>G (p.Ser313Arg)
|
rs774342993
|
0.00001
|
GRCh37/hg19 6q12(chr6:65518898-65930927)
|
|
|
GRCh37/hg19 6q12(chr6:65564377-65671149)
|
|
|
GRCh37/hg19 6q12(chr6:65807262-66064094)
|
|
|
GRCh37/hg19 6q12(chr6:66302699-66360268)
|
|
|
NC_000006.11:g.(65707597_65767506)_(65767621_66005755)dup
|
|
|
NC_000006.11:g.(66063511_66094278)_(66205887_66349670)dup
|
|
|
NC_000006.11:g.(66115261_66200486)_(66200601_66204555)dup
|
|
|
NM_001142800.2(EYS):c.1418G>T (p.Gly473Val)
|
rs540611114
|
|
NM_001142800.2(EYS):c.2024-15dup
|
rs202085379
|
|
NM_001142800.2(EYS):c.2803G>A (p.Glu935Lys)
|
rs1403474828
|
|
NM_001142800.2(EYS):c.3131A>G (p.Asn1044Ser)
|
|
|
NM_001142800.2(EYS):c.334G>A (p.Val112Ile)
|
rs112609906
|
|
NM_001142800.2(EYS):c.359C>T (p.Thr120Met)
|
rs12193967
|
|
NM_001142800.2(EYS):c.3877+18_3877+22del
|
rs139235690
|
|
NM_001142800.2(EYS):c.400C>T (p.His134Tyr)
|
|
|
NM_001142800.2(EYS):c.4606C>G (p.Gln1536Glu)
|
rs557152369
|
|
NM_001142800.2(EYS):c.4963T>A (p.Leu1655Met)
|
|
|
NM_001142800.2(EYS):c.6079-24TC[10]
|
rs35395170
|
|
NM_001142800.2(EYS):c.7228G>T (p.Ala2410Ser)
|
rs915505702
|
|
NM_001142800.2(EYS):c.7624G>T (p.Val2542Phe)
|
rs2149670380
|
|
NM_001142800.2(EYS):c.7793G>A (p.Gly2598Asp)
|
rs527236064
|
|