NM_000283.4(PDE6B):c.958G>A (p.Val320Ile)
|
rs10902758
|
0.99926
|
NM_000843.4(GRM6):c.1308T>C (p.Thr436=)
|
rs4701014
|
0.98353
|
NM_019098.4(CNGB3):c.*1881T>C
|
rs990193
|
0.91428
|
NM_019098.5(CNGB3):c.702T>G (p.Cys234Trp)
|
rs6471482
|
0.88912
|
NM_001252024.2(TRPM1):c.4-36G>A
|
rs4779817
|
0.85121
|
NM_001252024.2(TRPM1):c.68T>C (p.Met23Thr)
|
rs4779816
|
0.85041
|
NM_001252024.2(TRPM1):c.161G>A (p.Ser54Asn)
|
rs2241493
|
0.79957
|
NM_001252024.2(TRPM1):c.2406T>C (p.Asn802=)
|
rs2288242
|
0.78132
|
NM_000843.4(GRM6):c.1131C>T (p.Asp377=)
|
rs2071246
|
0.74455
|
NM_000541.5(SAG):c.733+31T>G
|
rs745498
|
0.73982
|
NM_006204.4(PDE6C):c.1270-7A>G
|
rs616522
|
0.73216
|
NM_019098.5(CNGB3):c.892A>C (p.Thr298Pro)
|
rs4961206
|
0.64246
|
NM_007348.4(ATF6):c.1896A>G (p.Ser632=)
|
rs9482
|
0.63750
|
NM_019098.4(CNGB3):c.*1639C>A
|
rs990192
|
0.58635
|
NM_000283.4(PDE6B):c.*12A>G
|
rs28675771
|
0.58217
|
NM_000843.4(GRM6):c.1500+23A>G
|
rs2256966
|
0.57932
|
NM_000843.4(GRM6):c.176A>C (p.Gln59Pro)
|
rs2645329
|
0.57334
|
NM_000843.4(GRM6):c.1392A>G (p.Gly464=)
|
rs11746675
|
0.57251
|
NM_198506.5(LRIT3):c.524G>A (p.Ser175Asn)
|
rs4698797
|
0.55919
|
NM_144499.3(GNAT1):c.*1427A>G
|
rs34877766
|
0.55827
|
NM_198506.5(LRIT3):c.1006A>T (p.Met336Leu)
|
rs764205
|
0.55477
|
NM_001252024.2(TRPM1):c.*571G>A
|
rs11070718
|
0.53803
|
NM_145200.5(CABP4):c.541+7C>G
|
rs1638564
|
0.53792
|
NM_000843.4(GRM6):c.1353T>C (p.Asn451=)
|
rs2067011
|
0.50613
|
NM_001378477.3(NYX):c.*509G>C
|
rs3021319
|
0.50557
|
NM_000843.4(GRM6):c.1227C>T (p.Tyr409=)
|
rs2645339
|
0.49941
|
NM_007348.4(ATF6):c.1434-3T>A
|
rs2257107
|
0.48568
|
NM_001252024.2(TRPM1):c.1305G>A (p.Thr435=)
|
rs1035705
|
0.47013
|
NM_002075.4(GNB3):c.825C>T (p.Ser275=)
|
rs5443
|
0.44600
|
NM_006204.4(PDE6C):c.1935+10C>A
|
rs1409332
|
0.43098
|
NM_144499.3(GNAT1):c.*516T>G
|
rs11919418
|
0.41929
|
NM_019098.5(CNGB3):c.852+55C>T
|
rs3735967
|
0.39180
|
NM_006204.4(PDE6C):c.808T>A (p.Ser270Thr)
|
rs701865
|
0.39072
|
NM_000541.5(SAG):c.436-18G>C
|
rs2304774
|
0.38156
|
NM_000539.3(RHO):c.-26A>G
|
rs7984
|
0.38071
|
NM_000539.3(RHO):c.*912A>G
|
rs2855558
|
0.37600
|
NM_006204.4(PDE6C):c.1098G>A (p.Ala366=)
|
rs714550
|
0.36884
|
NM_001377295.2(GNAT2):c.546G>A (p.Thr182=)
|
rs1799875
|
0.35862
|
NM_145200.5(CABP4):c.*876G>A
|
rs11601325
|
0.33447
|
NM_019098.5(CNGB3):c.1481-145A>C
|
rs13258590
|
0.33289
|
NM_144499.3(GNAT1):c.*618C>T
|
rs13064381
|
0.31869
|
NM_000541.5(SAG):c.1207G>A (p.Val403Ile)
|
rs1046974
|
0.30851
|
NM_001385125.1(OPN1SW):c.357A>C (p.Gly119=)
|
rs1799922
|
0.29989
|
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser)
|
rs61749665
|
0.29501
|
NM_001378477.3(NYX):c.-57+60A>G
|
rs3013121
|
0.28288
|
NM_001378477.3(NYX):c.-57+95T>C
|
rs3013122
|
0.28228
|
NM_001004334.4(GPR179):c.909= (p.Val303=)
|
rs9894059
|
0.24635
|
NM_001252024.2(TRPM1):c.2373T>C (p.Tyr791=)
|
rs12913672
|
0.24521
|
NM_006204.4(PDE6C):c.1380C>G (p.Thr460=)
|
rs3737228
|
0.23737
|
NM_007348.4(ATF6):c.199A>G (p.Met67Val)
|
rs1058405
|
0.21366
|
NM_000180.4(GUCY2D):c.2345T>A (p.Leu782His)
|
rs8069344
|
0.20071
|
NM_004727.3(SLC24A1):c.109A>T (p.Thr37Ser)
|
rs3743171
|
0.19289
|
NM_000843.4(GRM6):c.2196G>A (p.Thr732=)
|
rs2071247
|
0.18181
|
NM_001252024.2(TRPM1):c.*251A>G
|
rs17227989
|
0.16454
|
NM_001004334.4(GPR179):c.3448A>G (p.Lys1150Glu)
|
rs55727040
|
0.16088
|
NM_145200.5(CABP4):c.*1697A>G
|
rs2514262
|
0.14831
|
NM_001298.3(CNGA3):c.72T>C (p.Asp24=)
|
rs6727412
|
0.13838
|
NM_000539.3(RHO):c.*232A>G
|
rs2410
|
0.12892
|
NM_001377295.2(GNAT2):c.-32A>G
|
rs2304355
|
0.12857
|
NM_145200.5(CABP4):c.*119T>G
|
rs1790736
|
0.12627
|
NM_145200.5(CABP4):c.*1873C>T
|
rs867214951
|
0.12553
|
NM_145200.5(CABP4):c.*1857T>C
|
rs11227798
|
0.12407
|
NM_000180.4(GUCY2D):c.2576+37G>T
|
rs12103471
|
0.12387
|
NM_001252024.2(TRPM1):c.2541C>T (p.Asn847=)
|
rs12911350
|
0.12346
|
NM_007348.4(ATF6):c.105C>T (p.Leu35=)
|
rs2070151
|
0.11890
|
NM_007348.4(ATF6):c.309G>A (p.Ser103=)
|
rs2271012
|
0.11573
|
NM_000539.3(RHO):c.*925T>C
|
rs60645924
|
0.11065
|
NM_006205.3(PDE6H):c.-59G>C
|
rs11056264
|
0.10957
|
NM_019098.4(CNGB3):c.*1638G>A
|
rs28471019
|
0.09998
|
NM_007348.4(ATF6):c.270T>C (p.Pro90=)
|
rs2271013
|
0.09194
|
NM_006205.3(PDE6H):c.195A>G (p.Pro65=)
|
rs2230872
|
0.08891
|
NM_019098.5(CNGB3):c.*909_*910del
|
rs3217489
|
0.08432
|
NM_000539.3(RHO):c.-51G>A
|
rs2269736
|
0.08270
|
NM_019098.5(CNGB3):c.2264A>G (p.Glu755Gly)
|
rs3735972
|
0.08214
|
NM_019098.5(CNGB3):c.2214A>G (p.Glu738=)
|
rs3735970
|
0.08211
|
NM_000539.3(RHO):c.696+4C>T
|
rs56340615
|
0.07633
|
NM_006204.4(PDE6C):c.282C>T (p.Asp94=)
|
rs12781149
|
0.07060
|
NM_004727.3(SLC24A1):c.*1618A>G
|
rs62014380
|
0.06922
|
NM_001298.3(CNGA3):c.*838T>C
|
rs13395005
|
0.06587
|
NM_004727.3(SLC24A1):c.*732T>G
|
rs62014379
|
0.06512
|
NM_001298.2(CNGA3):c.-286C>T
|
rs13408372
|
0.06490
|
NM_004727.3(SLC24A1):c.937T>G (p.Leu313Val)
|
rs35571449
|
0.06350
|
NM_001252024.2(TRPM1):c.4560T>A (p.His1520Gln)
|
rs12898290
|
0.06327
|
NM_001252024.2(TRPM1):c.4189G>T (p.Glu1397Ter)
|
rs3784589
|
0.06326
|
NM_145200.5(CABP4):c.*2327G>A
|
rs11227799
|
0.06318
|
NM_019098.5(CNGB3):c.919A>G (p.Ile307Val)
|
rs13265557
|
0.05793
|
NM_145200.5(CABP4):c.800-5C>T
|
rs72934713
|
0.05627
|
NM_001004334.4(GPR179):c.7080T>G (p.Thr2360=)
|
rs58740367
|
0.05624
|
NM_019098.5(CNGB3):c.1356G>A (p.Gln452=)
|
rs34839859
|
0.05572
|
NM_001004334.4(GPR179):c.5605C>G (p.Gln1869Glu)
|
rs4399578
|
0.05465
|
NM_006204.4(PDE6C):c.1270-9C>T
|
rs11187564
|
0.05345
|
NM_001252024.2(TRPM1):c.4249G>A (p.Val1417Ile)
|
rs3784588
|
0.05322
|
NM_000283.4(PDE6B):c.915G>A (p.Thr305=)
|
rs75695239
|
0.05186
|
NM_019098.5(CNGB3):c.1179-38T>C
|
rs3735969
|
0.05147
|
NM_001004334.4(GPR179):c.*362G>A
|
rs4794777
|
0.05121
|
NM_019098.5(CNGB3):c.608G>A (p.Arg203Gln)
|
rs16916632
|
0.05057
|
NM_019098.5(CNGB3):c.1781+10A>T
|
rs7000747
|
0.05032
|
NM_001004334.4(GPR179):c.1478= (p.His493=)
|
rs4550493
|
0.04915
|
NM_019098.5(CNGB3):c.211+13T>G
|
rs66881636
|
0.04794
|
NM_198506.5(LRIT3):c.*1194T>A
|
rs56285361
|
0.04634
|
NM_001252024.2(TRPM1):c.3752A>C (p.Asn1251Thr)
|
rs17227996
|
0.04213
|
NM_001256789.3(CACNA1F):c.2673+3G>A
|
rs41312124
|
0.04106
|
NM_001004334.4(GPR179):c.2650C>T (p.Arg884Trp)
|
rs72832277
|
0.04068
|
NM_004727.3(SLC24A1):c.*718C>A
|
rs12148277
|
0.03721
|
NM_001298.2(CNGA3):c.*1351T>G
|
rs28376087
|
0.03691
|
NM_000283.4(PDE6B):c.*20C>A
|
rs61760239
|
0.03551
|
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser)
|
rs34598902
|
0.03505
|
NM_001298.3(CNGA3):c.*574C>T
|
rs13429817
|
0.03505
|
NM_004727.3(SLC24A1):c.*766G>A
|
rs140766380
|
0.03114
|
NM_001252024.2(TRPM1):c.4201C>A (p.Pro1401Thr)
|
rs61734298
|
0.02860
|
NM_000283.4(PDE6B):c.*191C>A
|
rs111449765
|
0.02743
|
NM_001252024.2(TRPM1):c.234T>C (p.Tyr78=)
|
rs74010762
|
0.02659
|
NM_000283.4(PDE6B):c.143G>A (p.Arg48Gln)
|
rs113842820
|
0.02573
|
NM_000283.4(PDE6B):c.123G>A (p.Pro41=)
|
rs113459274
|
0.02570
|
NM_000283.4(PDE6B):c.373C>G (p.Pro125Ala)
|
rs28414606
|
0.02568
|
NM_000283.4(PDE6B):c.384C>T (p.Ser128=)
|
rs28510278
|
0.02567
|
NM_001004334.4(GPR179):c.2040C>T (p.Asp680=)
|
rs111770829
|
0.02523
|
NM_001377295.2(GNAT2):c.319C>A (p.Leu107Ile)
|
rs3738766
|
0.02487
|
NM_001252024.2(TRPM1):c.1879G>A (p.Val627Met)
|
rs17815774
|
0.02393
|
NM_001378477.3(NYX):c.*414C>T
|
rs58930096
|
0.02379
|
NM_001252024.2(TRPM1):c.1572+14A>G
|
rs17228080
|
0.02373
|
NM_000539.3(RHO):c.*313C>T
|
rs55941599
|
0.02366
|
NM_006204.4(PDE6C):c.2096A>C (p.Glu699Ala)
|
rs12261131
|
0.02167
|
NM_001004334.4(GPR179):c.5930C>A (p.Pro1977His)
|
rs62073368
|
0.02067
|
NM_019098.5(CNGB3):c.*778T>C
|
rs16915859
|
0.01933
|
NM_019098.5(CNGB3):c.*389A>C
|
rs16915861
|
0.01929
|
NM_019098.5(CNGB3):c.595G>A (p.Glu199Lys)
|
rs114305748
|
0.01886
|
NM_198506.5(LRIT3):c.*962A>G
|
rs10011256
|
0.01835
|
NM_144499.3(GNAT1):c.*1397G>T
|
rs74718377
|
0.01823
|
NM_001004334.4(GPR179):c.5385C>T (p.Gly1795=)
|
rs72832276
|
0.01811
|
NM_001378477.3(NYX):c.*736G>C
|
rs141612904
|
0.01806
|
NM_001256789.3(CACNA1F):c.1523G>A (p.Arg508Gln)
|
rs34162630
|
0.01756
|
NM_019098.5(CNGB3):c.80A>G (p.Asn27Ser)
|
rs35807406
|
0.01728
|
NM_145200.5(CABP4):c.*2195G>A
|
rs11822066
|
0.01710
|
NM_145200.5(CABP4):c.*1435G>A
|
rs75914794
|
0.01709
|
NM_004727.3(SLC24A1):c.1822G>A (p.Val608Ile)
|
rs35984752
|
0.01683
|
NM_144499.3(GNAT1):c.117G>A (p.Glu39=)
|
rs34797487
|
0.01515
|
NM_000180.4(GUCY2D):c.1724C>T (p.Pro575Leu)
|
rs28743021
|
0.01496
|
NM_001252024.2(TRPM1):c.*447G>C
|
rs35415636
|
0.01490
|
NM_001378477.3(NYX):c.207G>A (p.Leu69=)
|
rs12013709
|
0.01487
|
NM_144499.3(GNAT1):c.*1174G>A
|
rs114828382
|
0.01485
|
NM_006205.3(PDE6H):c.*301A>G
|
rs77796036
|
0.01482
|
NM_001004334.4(GPR179):c.*613G>C
|
rs59996277
|
0.01442
|
NM_001004334.4(GPR179):c.*523G>A
|
rs143241101
|
0.01311
|
NM_001004334.4(GPR179):c.3881G>A (p.Arg1294Gln)
|
rs74742940
|
0.01287
|
NM_000283.4(PDE6B):c.2526C>T (p.Gly842=)
|
rs61733857
|
0.01240
|
NM_001004334.4(GPR179):c.3680A>G (p.Lys1227Arg)
|
rs138451517
|
0.01226
|
NM_001004334.4(GPR179):c.1595G>A (p.Arg532His)
|
rs59208852
|
0.01203
|
NM_001004334.4(GPR179):c.654T>G (p.Asp218Glu)
|
rs74871223
|
0.01200
|
NM_001004334.4(GPR179):c.74C>A (p.Ala25Asp)
|
rs111677298
|
0.01196
|
NM_000539.3(RHO):c.*1601C>T
|
rs187923166
|
0.01177
|
NM_004727.3(SLC24A1):c.931G>C (p.Val311Leu)
|
rs34363823
|
0.01175
|
NM_000283.4(PDE6B):c.2289G>A (p.Lys763=)
|
rs61739716
|
0.01153
|
NM_001004334.4(GPR179):c.3569G>A (p.Arg1190Gln)
|
rs80172972
|
0.01140
|
NM_001298.3(CNGA3):c.592G>A (p.Glu198Lys)
|
rs2271041
|
0.01129
|
NM_000539.3(RHO):c.*488T>C
|
rs78163008
|
0.01127
|
NM_001004334.4(GPR179):c.921T>A (p.Ser307Arg)
|
rs137934209
|
0.01106
|
NM_004727.3(SLC24A1):c.*1199T>C
|
rs114414983
|
0.01090
|
NM_000539.3(RHO):c.*33C>T
|
rs113310993
|
0.01076
|
NM_001004334.4(GPR179):c.2924C>A (p.Ala975Asp)
|
rs111520301
|
0.01045
|
NM_001004334.4(GPR179):c.2392G>A (p.Ala798Thr)
|
rs78470373
|
0.01044
|
NM_019098.5(CNGB3):c.354G>T (p.Pro118=)
|
rs75858066
|
0.01037
|
NM_000283.4(PDE6B):c.2331C>T (p.Phe777=)
|
rs35792756
|
0.01026
|
NM_019098.5(CNGB3):c.1397T>C (p.Met466Thr)
|
rs35010099
|
0.00978
|
NM_001252024.2(TRPM1):c.1644C>T (p.Tyr548=)
|
rs34647453
|
0.00956
|
NM_004727.3(SLC24A1):c.1488C>T (p.Gly496=)
|
rs35366838
|
0.00946
|
NM_000283.4(PDE6B):c.2505A>G (p.Val835=)
|
rs61734864
|
0.00938
|
NM_000283.4(PDE6B):c.*414C>T
|
rs111404897
|
0.00925
|
NM_145200.5(CABP4):c.747C>T (p.Asp249=)
|
rs34573687
|
0.00924
|
NM_001377295.2(GNAT2):c.-53-76A>G
|
rs116819755
|
0.00917
|
NM_000283.4(PDE6B):c.496G>A (p.Glu166Lys)
|
rs115775983
|
0.00911
|
NM_006205.3(PDE6H):c.-29G>C
|
rs114575851
|
0.00911
|
NM_001004334.4(GPR179):c.880C>T (p.Leu294=)
|
rs141320532
|
0.00905
|
NM_206997.1(GPR152):c.181G>A (p.Gly61Arg)
|
rs79423227
|
0.00871
|
NM_001252024.2(TRPM1):c.4744G>A (p.Val1582Met)
|
rs61734295
|
0.00844
|
NM_001004334.4(GPR179):c.2988G>A (p.Glu996=)
|
rs192591837
|
0.00838
|
NM_001298.3(CNGA3):c.458C>T (p.Thr153Met)
|
rs34314205
|
0.00836
|
NM_000283.4(PDE6B):c.873T>C (p.Ser291=)
|
rs142597807
|
0.00827
|
NM_001004334.4(GPR179):c.3979G>A (p.Asp1327Asn)
|
rs112195635
|
0.00812
|
NM_006204.4(PDE6C):c.2208+14A>C
|
rs61701022
|
0.00810
|
NM_001252024.2(TRPM1):c.1261C>A (p.Pro421Thr)
|
rs141540242
|
0.00803
|
NM_019098.5(CNGB3):c.1626C>T (p.Ser542=)
|
rs35903042
|
0.00786
|
NM_000843.4(GRM6):c.1307C>T (p.Thr436Ile)
|
rs5019554
|
0.00766
|
NM_004727.3(SLC24A1):c.*1931C>T
|
rs75577183
|
0.00760
|
NM_004727.3(SLC24A1):c.-164C>T
|
rs79327611
|
0.00743
|
NM_145200.5(CABP4):c.*1859C>T
|
rs7936733
|
0.00732
|
NM_198506.5(LRIT3):c.*232C>G
|
rs116151046
|
0.00720
|
NM_001378477.3(NYX):c.1202C>G (p.Ala401Gly)
|
rs34169326
|
0.00706
|
NM_006204.4(PDE6C):c.*26A>G
|
rs112520932
|
0.00703
|
NM_004727.3(SLC24A1):c.-113C>T
|
rs76680467
|
0.00702
|
NM_004727.3(SLC24A1):c.2594A>G (p.Glu865Gly)
|
rs142249570
|
0.00691
|
NM_001004334.4(GPR179):c.3454T>C (p.Ser1152Pro)
|
rs149252987
|
0.00689
|
NM_001252024.2(TRPM1):c.3980G>A (p.Arg1327His)
|
rs13380059
|
0.00682
|
NM_006204.4(PDE6C):c.1755G>T (p.Lys585Asn)
|
rs45522236
|
0.00677
|
NM_006204.4(PDE6C):c.203C>T (p.Thr68Ile)
|
rs62642544
|
0.00670
|
NM_019098.5(CNGB3):c.*621G>A
|
rs116835980
|
0.00669
|
NM_001252024.2(TRPM1):c.*723T>C
|
rs143353770
|
0.00654
|
NM_001004334.4(GPR179):c.645G>A (p.Pro215=)
|
rs75688084
|
0.00639
|
NM_145200.5(CABP4):c.*963C>T
|
rs76060170
|
0.00637
|
NM_019098.5(CNGB3):c.212-3T>C
|
rs79126074
|
0.00635
|
NM_004727.3(SLC24A1):c.*778C>T
|
rs150126578
|
0.00629
|
NM_001004334.4(GPR179):c.508G>C (p.Gly170Arg)
|
rs77937007
|
0.00605
|
NM_006204.4(PDE6C):c.724-15G>T
|
rs141403797
|
0.00596
|
NM_001004334.4(GPR179):c.4141T>C (p.Cys1381Arg)
|
rs4398144
|
0.00592
|
NM_000283.4(PDE6B):c.615C>T (p.Asp205=)
|
rs149293844
|
0.00577
|
NM_006205.3(PDE6H):c.-73C>A
|
rs188351941
|
0.00560
|
NM_001252024.2(TRPM1):c.4007C>T (p.Thr1336Met)
|
rs111421899
|
0.00551
|
NM_001004334.4(GPR179):c.*824G>A
|
rs191828655
|
0.00537
|
NM_001252024.2(TRPM1):c.1764+9C>G
|
rs147073624
|
0.00537
|
NM_006204.4(PDE6C):c.1936-9A>G
|
rs182445749
|
0.00536
|
NM_001377295.2(GNAT2):c.933T>C (p.Asn311=)
|
rs34723289
|
0.00516
|
NM_000843.4(GRM6):c.1533C>T (p.His511=)
|
rs61733043
|
0.00512
|
NM_001252024.2(TRPM1):c.3938C>T (p.Thr1313Met)
|
rs114875010
|
0.00511
|
NM_145200.5(CABP4):c.*2679A>G
|
rs77828276
|
0.00503
|
NM_001298.3(CNGA3):c.215+11A>G
|
rs199755395
|
0.00490
|
NM_145200.5(CABP4):c.*1636A>G
|
rs532435181
|
0.00479
|
NM_001004334.4(GPR179):c.2604G>C (p.Glu868Asp)
|
rs201214109
|
0.00473
|
NM_001298.3(CNGA3):c.1569C>T (p.Asn523=)
|
rs61752503
|
0.00467
|
NM_000283.4(PDE6B):c.655T>C (p.Tyr219His)
|
rs62295357
|
0.00465
|
NM_004727.3(SLC24A1):c.*1504C>T
|
rs116886540
|
0.00464
|
NM_001004334.4(GPR179):c.628G>A (p.Gly210Ser)
|
rs148060036
|
0.00463
|
NM_001252024.2(TRPM1):c.3444C>T (p.Gly1148=)
|
rs79581534
|
0.00452
|
NM_001298.3(CNGA3):c.143C>T (p.Pro48Leu)
|
rs62156348
|
0.00451
|
NM_000283.4(PDE6B):c.1635C>T (p.Phe545=)
|
rs141813304
|
0.00436
|
NM_000283.4(PDE6B):c.101C>T (p.Ala34Val)
|
rs148829093
|
0.00434
|
NM_001377295.2(GNAT2):c.370G>A (p.Val124Met)
|
rs41280330
|
0.00428
|
NM_000283.4(PDE6B):c.270C>T (p.Asp90=)
|
rs80344633
|
0.00422
|
NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe)
|
rs138886378
|
0.00409
|
NM_145200.5(CABP4):c.53G>A (p.Arg18His)
|
rs140245752
|
0.00399
|
NM_001004334.4(GPR179):c.3847C>T (p.Pro1283Ser)
|
rs150125328
|
0.00382
|
NM_145200.5(CABP4):c.*2709G>A
|
rs189502443
|
0.00380
|
NM_001378477.3(NYX):c.828G>A (p.Glu276=)
|
rs3810733
|
0.00379
|
NM_000283.4(PDE6B):c.1108-9C>T
|
rs200970775
|
0.00373
|
NM_144499.3(GNAT1):c.675C>T (p.Ala225=)
|
rs4688684
|
0.00368
|
NM_000283.4(PDE6B):c.1060-13G>A
|
rs147482093
|
0.00365
|
NM_001298.3(CNGA3):c.396-4G>A
|
rs114951127
|
0.00360
|
NM_145200.5(CABP4):c.*120T>A
|
rs372107215
|
0.00360
|
NM_000539.3(RHO):c.*1278G>T
|
rs113312341
|
0.00359
|
NM_001256789.3(CACNA1F):c.2334+123G>C
|
rs185254714
|
0.00356
|
NM_001252024.2(TRPM1):c.3549G>C (p.Gln1183His)
|
rs182549235
|
0.00354
|
NM_002929.3(GRK1):c.162C>T (p.Leu54=)
|
rs73579342
|
0.00353
|
NM_019098.5(CNGB3):c.1179-6T>C
|
rs114127590
|
0.00352
|
NM_198506.5(LRIT3):c.1442C>T (p.Thr481Met)
|
rs116570736
|
0.00352
|
NM_019098.5(CNGB3):c.1492T>A (p.Leu498Met)
|
rs115246141
|
0.00350
|
NM_145200.5(CABP4):c.360C>T (p.Phe120=)
|
rs192900242
|
0.00342
|
NM_000180.4(GUCY2D):c.1371C>T (p.Cys457=)
|
rs55916957
|
0.00340
|
NM_001252024.2(TRPM1):c.615G>A (p.Lys205=)
|
rs141363524
|
0.00337
|
NM_004727.3(SLC24A1):c.*37A>C
|
rs73470085
|
0.00333
|
NM_001252024.2(TRPM1):c.2316+12G>A
|
rs76451613
|
0.00325
|
NM_144499.3(GNAT1):c.*410A>G
|
rs557823715
|
0.00322
|
NM_001004334.4(GPR179):c.*554C>T
|
rs138942149
|
0.00319
|
NM_198506.5(LRIT3):c.*1490T>C
|
rs183244433
|
0.00317
|
NM_000539.3(RHO):c.360C>T (p.Gly120=)
|
rs79765751
|
0.00312
|
NM_001377295.2(GNAT2):c.*50G>C
|
rs116688317
|
0.00311
|
NM_019098.5(CNGB3):c.*29G>T
|
rs138432513
|
0.00309
|
NM_001298.3(CNGA3):c.353A>G (p.Gln118Arg)
|
rs142837782
|
0.00305
|
NM_019098.5(CNGB3):c.2420C>G (p.Ala807Gly)
|
rs142846289
|
0.00300
|
NM_000539.3(RHO):c.152G>C (p.Gly51Ala)
|
rs149079952
|
0.00296
|
NM_001004334.4(GPR179):c.6336G>A (p.Ala2112=)
|
rs186214845
|
0.00296
|
NM_001004334.4(GPR179):c.5563C>G (p.Leu1855Val)
|
rs79954845
|
0.00280
|
NM_000843.4(GRM6):c.1875C>T (p.Tyr625=)
|
rs62638215
|
0.00277
|
NM_001378477.3(NYX):c.*152A>G
|
rs370733549
|
0.00277
|
NM_004727.3(SLC24A1):c.1859C>T (p.Ala620Val)
|
rs35398714
|
0.00276
|
NM_001298.3(CNGA3):c.1626C>T (p.Ser542=)
|
rs78583671
|
0.00275
|
NM_001377295.2(GNAT2):c.-53-78G>A
|
rs532113128
|
0.00275
|
NM_004727.3(SLC24A1):c.-275G>A
|
rs115370128
|
0.00275
|
NM_001252024.2(TRPM1):c.2991C>T (p.Val997=)
|
rs115529590
|
0.00272
|
NM_001252024.2(TRPM1):c.4349C>T (p.Thr1450Met)
|
rs113814575
|
0.00271
|
NM_004727.3(SLC24A1):c.2764T>C (p.Trp922Arg)
|
rs146253044
|
0.00270
|
NM_198506.5(LRIT3):c.222G>A (p.Ala74=)
|
rs148450929
|
0.00264
|
NM_001252024.2(TRPM1):c.1342G>A (p.Gly448Arg)
|
rs73372436
|
0.00257
|
NM_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp)
|
rs35365413
|
0.00248
|
NM_001004334.4(GPR179):c.4709C>T (p.Thr1570Met)
|
rs187512697
|
0.00241
|
NM_000283.4(PDE6B):c.711+10C>T
|
rs201100689
|
0.00237
|
NM_006204.4(PDE6C):c.2037-7T>C
|
rs181296577
|
0.00234
|
NM_019098.5(CNGB3):c.1439G>A (p.Arg480Gln)
|
rs77277189
|
0.00234
|
NM_198506.5(LRIT3):c.158C>T (p.Thr53Met)
|
rs181200721
|
0.00233
|
NM_001004334.4(GPR179):c.4306C>T (p.Arg1436Trp)
|
rs147966258
|
0.00228
|
NM_198506.5(LRIT3):c.*389G>A
|
rs139529995
|
0.00228
|
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile)
|
rs141010716
|
0.00227
|
NM_001004334.4(GPR179):c.5019C>G (p.Thr1673=)
|
rs182907807
|
0.00219
|
NM_006204.4(PDE6C):c.2501A>G (p.Glu834Gly)
|
rs148661165
|
0.00218
|
NM_006204.4(PDE6C):c.1104A>G (p.Glu368=)
|
rs145836229
|
0.00217
|
NM_006204.4(PDE6C):c.864+13C>T
|
rs199559247
|
0.00216
|
NM_006204.4(PDE6C):c.471T>G (p.Asp157Glu)
|
rs76999928
|
0.00210
|
NM_001298.2(CNGA3):c.-383A>G
|
rs143449407
|
0.00203
|
NM_001004334.4(GPR179):c.959G>A (p.Arg320Gln)
|
rs189931659
|
0.00194
|
NM_004727.3(SLC24A1):c.2778C>T (p.Pro926=)
|
rs117685425
|
0.00190
|
NM_001004334.4(GPR179):c.1029C>T (p.Phe343=)
|
rs149830172
|
0.00183
|
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)
|
rs397515360
|
0.00183
|
NM_000283.4(PDE6B):c.*474C>G
|
rs577140751
|
0.00180
|
NM_000539.3(RHO):c.480C>A (p.Thr160=)
|
rs151063543
|
0.00180
|
NM_144499.3(GNAT1):c.*1187G>A
|
rs192468377
|
0.00180
|
NM_001256789.3(CACNA1F):c.3439-18C>T
|
rs199764042
|
0.00179
|
NM_006204.4(PDE6C):c.2082G>A (p.Met694Ile)
|
rs150112560
|
0.00179
|
NM_144499.3(GNAT1):c.*551C>T
|
rs116031664
|
0.00179
|
NM_019098.5(CNGB3):c.*1459C>T
|
rs192543896
|
0.00178
|
NM_001256789.3(CACNA1F):c.2204A>C (p.Asn735Thr)
|
rs141159097
|
0.00176
|
NM_145200.5(CABP4):c.*2668G>A
|
rs116414393
|
0.00171
|
NM_000539.3(RHO):c.*205C>T
|
rs202215179
|
0.00170
|
NM_145200.5(CABP4):c.-27G>A
|
rs192302421
|
0.00167
|
NM_144499.3(GNAT1):c.939G>A (p.Lys313=)
|
rs201551360
|
0.00163
|
NM_001252024.2(TRPM1):c.1573-10T>C
|
rs202224865
|
0.00162
|
NM_000539.3(RHO):c.*467A>G
|
rs148165044
|
0.00161
|
NM_001004334.4(GPR179):c.5975G>A (p.Gly1992Asp)
|
rs200936863
|
0.00160
|
NM_004727.3(SLC24A1):c.*721G>A
|
rs549899114
|
0.00160
|
NM_006205.3(PDE6H):c.*319T>C
|
rs3748304
|
0.00160
|
NM_145200.5(CABP4):c.455G>A (p.Arg152Gln)
|
rs143257000
|
0.00159
|
NM_001298.3(CNGA3):c.740C>T (p.Thr247Met)
|
rs148616345
|
0.00158
|
NM_001252024.2(TRPM1):c.600A>G (p.Glu200=)
|
rs200934141
|
0.00157
|
NM_006205.3(PDE6H):c.*71C>T
|
rs144778897
|
0.00150
|
NM_001298.3(CNGA3):c.198C>T (p.Thr66=)
|
rs139544302
|
0.00147
|
NM_019098.5(CNGB3):c.1732A>T (p.Thr578Ser)
|
rs145247723
|
0.00145
|
NM_000539.3(RHO):c.381C>G (p.Ser127=)
|
rs146311684
|
0.00144
|
NM_001004334.4(GPR179):c.657A>T (p.Gly219=)
|
rs116896787
|
0.00141
|
NM_144499.3(GNAT1):c.411G>A (p.Glu137=)
|
rs147238978
|
0.00140
|
NM_145200.5(CABP4):c.*1117C>A
|
rs565802060
|
0.00137
|
NM_001004334.4(GPR179):c.1133C>T (p.Ala378Val)
|
rs192426710
|
0.00128
|
NM_006204.4(PDE6C):c.742A>G (p.Asn248Asp)
|
rs140524715
|
0.00127
|
NM_145200.5(CABP4):c.*1190T>C
|
rs7127024
|
0.00126
|
NM_004727.3(SLC24A1):c.2171C>T (p.Thr724Met)
|
rs191146484
|
0.00125
|
NM_019098.5(CNGB3):c.2159A>G (p.Gln720Arg)
|
rs112573107
|
0.00124
|
NM_145200.5(CABP4):c.*1291A>G
|
rs146149609
|
0.00124
|
NM_019098.4(CNGB3):c.-32T>C
|
rs376141938
|
0.00123
|
NM_001298.3(CNGA3):c.*178C>T
|
rs113687827
|
0.00122
|
NM_019098.5(CNGB3):c.43G>C (p.Gly15Arg)
|
rs150260103
|
0.00122
|
NM_006204.4(PDE6C):c.413T>C (p.Leu138Ser)
|
rs139456217
|
0.00121
|
NM_001004334.4(GPR179):c.61G>C (p.Val21Leu)
|
rs150616884
|
0.00120
|
NM_001004334.4(GPR179):c.725G>A (p.Arg242Gln)
|
rs143624972
|
0.00120
|
NM_001298.3(CNGA3):c.1968G>A (p.Met656Ile)
|
rs147293818
|
0.00120
|
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)
|
rs147876778
|
0.00119
|
NM_001377295.2(GNAT2):c.147C>T (p.Ile49=)
|
rs146945932
|
0.00115
|
NM_001298.3(CNGA3):c.1618G>A (p.Val540Ile)
|
rs116448158
|
0.00113
|
NM_145200.5(CABP4):c.*1392T>C
|
rs77807407
|
0.00111
|
NM_198506.5(LRIT3):c.1182A>G (p.Thr394=)
|
rs184650144
|
0.00111
|
NM_004727.3(SLC24A1):c.-182T>C
|
rs190488986
|
0.00110
|
NM_001004334.4(GPR179):c.6824T>C (p.Leu2275Pro)
|
rs148601715
|
0.00108
|
NM_001378477.3(NYX):c.*103G>A
|
rs750048192
|
0.00105
|
NM_001252024.2(TRPM1):c.1255C>T (p.His419Tyr)
|
rs201213623
|
0.00104
|
NM_006204.4(PDE6C):c.2425A>C (p.Arg809=)
|
rs1051926
|
0.00104
|
NM_001298.3(CNGA3):c.1767C>T (p.Thr589=)
|
rs137950660
|
0.00102
|
NM_198506.5(LRIT3):c.*1267C>T
|
rs190337829
|
0.00101
|
NM_000539.3(RHO):c.*1455T>C
|
rs552362456
|
0.00096
|
NM_001004334.4(GPR179):c.2895G>A (p.Leu965=)
|
rs200583958
|
0.00096
|
NM_019098.5(CNGB3):c.*1183T>C
|
rs78927155
|
0.00096
|
NM_000283.4(PDE6B):c.145G>T (p.Asp49Tyr)
|
rs79826315
|
0.00091
|
NM_001378477.3(NYX):c.1183G>A (p.Gly395Ser)
|
rs189924262
|
0.00089
|
NM_019098.5(CNGB3):c.*125G>C
|
rs186370374
|
0.00087
|
NM_145200.5(CABP4):c.652-11G>A
|
rs117175952
|
0.00087
|
NM_000539.3(RHO):c.*1599G>A
|
rs576980794
|
0.00086
|
NM_019098.5(CNGB3):c.1534A>G (p.Ile512Val)
|
rs146062161
|
0.00086
|
NM_198506.5(LRIT3):c.1273A>C (p.Thr425Pro)
|
rs138218384
|
0.00086
|
NM_001298.3(CNGA3):c.284C>T (p.Pro95Leu)
|
rs114108462
|
0.00083
|
NM_001004334.4(GPR179):c.5868C>T (p.Ser1956=)
|
rs202228440
|
0.00082
|
NM_001004334.4(GPR179):c.1477C>T (p.His493Tyr)
|
rs114716738
|
0.00081
|
NM_001378477.3(NYX):c.567C>A (p.Ile189=)
|
rs746383908
|
0.00081
|
NM_006204.4(PDE6C):c.466C>T (p.Pro156Ser)
|
rs145591492
|
0.00081
|
NM_198506.5(LRIT3):c.379G>T (p.Asp127Tyr)
|
rs148810231
|
0.00081
|
NM_001298.3(CNGA3):c.566+6C>T
|
rs199558955
|
0.00080
|
NM_145200.5(CABP4):c.*3043C>T
|
rs571674945
|
0.00080
|
NM_000283.4(PDE6B):c.794G>A (p.Arg265Gln)
|
rs144562730
|
0.00079
|
NM_001004334.4(GPR179):c.5982C>T (p.Ala1994=)
|
rs185715311
|
0.00079
|
NM_001378477.3(NYX):c.1020G>A (p.Glu340=)
|
rs143486101
|
0.00079
|
NM_001378477.3(NYX):c.1212C>T (p.Thr404=)
|
rs187149252
|
0.00079
|
NM_144499.3(GNAT1):c.*2329A>G
|
rs187096133
|
0.00079
|
NM_000283.4(PDE6B):c.1401+4C>T
|
rs113246945
|
0.00077
|
NM_000539.3(RHO):c.969C>T (p.Cys323=)
|
rs142771862
|
0.00075
|
NM_000283.4(PDE6B):c.1083C>T (p.Ser361=)
|
rs142802752
|
0.00073
|
NM_145200.5(CABP4):c.547G>C (p.Gly183Arg)
|
rs146764702
|
0.00073
|
NM_004727.3(SLC24A1):c.1653C>T (p.Leu551=)
|
rs181942192
|
0.00072
|
NM_000283.4(PDE6B):c.852+12G>A
|
rs201676629
|
0.00070
|
NM_019098.5(CNGB3):c.913G>A (p.Ala305Thr)
|
rs144637286
|
0.00070
|
NM_001004334.4(GPR179):c.976G>A (p.Ala326Thr)
|
rs201963254
|
0.00067
|
NM_001004334.4(GPR179):c.991+4T>C
|
rs375898051
|
0.00067
|
NM_145200.5(CABP4):c.*683A>G
|
rs146218513
|
0.00066
|
NM_004727.3(SLC24A1):c.*1699T>C
|
rs772057151
|
0.00065
|
NM_019098.5(CNGB3):c.1510A>G (p.Thr504Ala)
|
rs140286824
|
0.00065
|
NM_001004334.4(GPR179):c.2410C>T (p.Arg804Trp)
|
rs201086495
|
0.00063
|
NM_198506.5(LRIT3):c.583A>G (p.Ile195Val)
|
rs182054858
|
0.00063
|
NM_001252024.2(TRPM1):c.507C>T (p.His169=)
|
rs201157794
|
0.00062
|
NM_019098.5(CNGB3):c.494-11T>C
|
rs543970676
|
0.00062
|
NM_000283.4(PDE6B):c.1218C>T (p.Asp406=)
|
rs148190219
|
0.00061
|
NM_001252024.2(TRPM1):c.4499C>T (p.Thr1500Met)
|
rs201617759
|
0.00058
|
NM_000180.4(GUCY2D):c.1081G>A (p.Val361Met)
|
rs186508466
|
0.00057
|
NM_019098.5(CNGB3):c.319G>A (p.Gly107Arg)
|
rs146688972
|
0.00057
|
NM_000283.4(PDE6B):c.2470A>G (p.Lys824Glu)
|
rs138682290
|
0.00056
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_001004334.4(GPR179):c.3441C>T (p.Ser1147=)
|
rs377711366
|
0.00054
|
NM_001004334.4(GPR179):c.5416G>A (p.Ala1806Thr)
|
rs201654499
|
0.00054
|
NM_001004334.4(GPR179):c.973G>A (p.Gly325Arg)
|
rs200392643
|
0.00054
|
NM_019098.5(CNGB3):c.1368C>T (p.Arg456=)
|
rs141934736
|
0.00054
|
NM_000180.4(GUCY2D):c.2179G>A (p.Gly727Ser)
|
rs146820642
|
0.00053
|
NM_001252024.2(TRPM1):c.4502G>A (p.Arg1501His)
|
rs111649153
|
0.00053
|
NM_145200.5(CABP4):c.*681A>G
|
rs543961015
|
0.00053
|
NM_000539.3(RHO):c.*1200T>C
|
rs538744995
|
0.00051
|
NM_019098.5(CNGB3):c.*51C>T
|
rs189210452
|
0.00051
|
NM_145200.5(CABP4):c.*702C>T
|
rs574323434
|
0.00051
|
NM_145200.5(CABP4):c.522G>A (p.Ser174=)
|
rs143344989
|
0.00051
|
NM_004727.3(SLC24A1):c.*2041C>T
|
rs138458275
|
0.00050
|
NM_001004334.4(GPR179):c.6475A>G (p.Lys2159Glu)
|
rs181844178
|
0.00049
|
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys)
|
rs147415641
|
0.00049
|
NM_145200.5(CABP4):c.651+15G>A
|
rs199749736
|
0.00049
|
NM_000283.4(PDE6B):c.1296C>T (p.Thr432=)
|
rs114100439
|
0.00048
|
NM_001252024.2(TRPM1):c.*664A>G
|
rs573027667
|
0.00048
|
NM_001252024.2(TRPM1):c.*229G>A
|
rs543341268
|
0.00047
|
NM_000283.4(PDE6B):c.220C>T (p.Arg74Cys)
|
rs144590560
|
0.00046
|
NM_000539.3(RHO):c.*948T>C
|
rs529674071
|
0.00046
|
NM_001252024.2(TRPM1):c.4308C>A (p.Pro1436=)
|
rs138216783
|
0.00045
|
NM_004727.3(SLC24A1):c.2183C>T (p.Ala728Val)
|
rs201943537
|
0.00045
|
NM_001252024.2(TRPM1):c.*206A>G
|
rs185083296
|
0.00044
|
NM_001252024.2(TRPM1):c.551G>A (p.Arg184Gln)
|
rs188852505
|
0.00044
|
NM_001298.3(CNGA3):c.1863G>A (p.Ala621=)
|
rs181911949
|
0.00044
|
NM_001378477.3(NYX):c.-57+46T>C
|
rs777981530
|
0.00044
|
NM_145200.5(CABP4):c.*1223G>A
|
rs555941085
|
0.00044
|
NM_198506.5(LRIT3):c.1317G>A (p.Lys439=)
|
rs189069580
|
0.00044
|
NM_001004334.4(GPR179):c.1723C>T (p.Arg575Cys)
|
rs200801090
|
0.00043
|
NM_001004334.4(GPR179):c.691C>T (p.Pro231Ser)
|
rs200731095
|
0.00043
|
NM_019098.5(CNGB3):c.2130G>A (p.Glu710=)
|
rs149271453
|
0.00043
|
NM_000539.3(RHO):c.*1179T>C
|
rs569761830
|
0.00042
|
NM_004727.3(SLC24A1):c.*40C>A
|
rs371028086
|
0.00042
|
NM_000283.4(PDE6B):c.905G>A (p.Gly302Asp)
|
rs146646008
|
0.00041
|
NM_000539.3(RHO):c.*741T>C
|
rs753496233
|
0.00041
|
NM_000539.3(RHO):c.891C>T (p.Ser297=)
|
rs142285818
|
0.00041
|
NM_001004334.4(GPR179):c.2022C>T (p.Asp674=)
|
rs79623844
|
0.00041
|
NM_004727.3(SLC24A1):c.3058G>A (p.Val1020Ile)
|
rs375878760
|
0.00041
|
NM_198506.5(LRIT3):c.*683G>A
|
rs564004924
|
0.00041
|
NM_001378477.3(NYX):c.*383G>T
|
rs148699627
|
0.00040
|
NM_001004334.4(GPR179):c.1533C>T (p.Gly511=)
|
rs200421731
|
0.00039
|
NM_019098.5(CNGB3):c.1383C>T (p.Asp461=)
|
rs112847374
|
0.00039
|
NM_144499.3(GNAT1):c.876C>T (p.Tyr292=)
|
rs142612552
|
0.00039
|
NM_145200.5(CABP4):c.*2186C>T
|
rs191420904
|
0.00039
|
NM_001004334.4(GPR179):c.795-4G>A
|
rs150772690
|
0.00038
|
NM_001377295.2(GNAT2):c.427G>A (p.Ala143Thr)
|
rs149421007
|
0.00038
|
NM_006204.4(PDE6C):c.2087C>T (p.Thr696Met)
|
rs41290222
|
0.00038
|
NM_000843.4(GRM6):c.2341G>A (p.Glu781Lys)
|
rs62638625
|
0.00037
|
NM_001004334.4(GPR179):c.4381G>C (p.Glu1461Gln)
|
rs201149338
|
0.00037
|
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys)
|
rs141386891
|
0.00036
|
NM_004727.3(SLC24A1):c.803T>C (p.Val268Ala)
|
rs202245263
|
0.00036
|
NM_006204.4(PDE6C):c.1935+13C>T
|
rs199704992
|
0.00036
|
NM_006205.3(PDE6H):c.*358T>G
|
rs558075003
|
0.00036
|
NM_006205.3(PDE6H):c.*369A>G
|
rs571862339
|
0.00036
|
NM_019098.5(CNGB3):c.1815T>G (p.Thr605=)
|
rs143131185
|
0.00036
|
NM_144499.3(GNAT1):c.*1990G>A
|
rs184223436
|
0.00035
|
NM_001004334.4(GPR179):c.3752C>T (p.Ser1251Leu)
|
rs368643450
|
0.00034
|
NM_001298.3(CNGA3):c.1343A>G (p.Lys448Arg)
|
rs190014426
|
0.00034
|
NM_006204.4(PDE6C):c.792G>A (p.Ala264=)
|
rs375235184
|
0.00034
|
NM_019098.5(CNGB3):c.*737T>C
|
rs146999298
|
0.00034
|
NM_144499.3(GNAT1):c.*1274G>A
|
rs891084737
|
0.00034
|
NM_198506.5(LRIT3):c.*1157T>C
|
rs572997541
|
0.00034
|
NM_198506.5(LRIT3):c.1445A>C (p.Glu482Ala)
|
rs75722024
|
0.00034
|
NM_000283.4(PDE6B):c.2352+3G>A
|
rs111504036
|
0.00033
|
NM_001252024.2(TRPM1):c.2877C>T (p.Phe959=)
|
rs370822722
|
0.00033
|
NM_001252024.2(TRPM1):c.4645G>C (p.Asp1549His)
|
rs117105175
|
0.00033
|
NM_001298.3(CNGA3):c.967G>C (p.Ala323Pro)
|
rs146195955
|
0.00033
|
NM_004727.3(SLC24A1):c.*1628C>A
|
rs983795023
|
0.00033
|
NM_000283.4(PDE6B):c.1401+5G>A
|
rs201623488
|
0.00032
|
NM_000283.4(PDE6B):c.966C>T (p.His322=)
|
rs143711050
|
0.00032
|
NM_001252024.2(TRPM1):c.1795-8C>G
|
rs183856964
|
0.00032
|
NM_144499.3(GNAT1):c.*1369G>T
|
rs563891409
|
0.00032
|
NM_001004334.4(GPR179):c.5927G>A (p.Arg1976His)
|
rs200274687
|
0.00031
|
NM_001252024.2(TRPM1):c.2701-10T>A
|
rs201747375
|
0.00031
|
NM_001298.3(CNGA3):c.1116C>T (p.Pro372=)
|
rs201649850
|
0.00031
|
NM_001298.3(CNGA3):c.440C>G (p.Thr147Arg)
|
rs144099488
|
0.00031
|
NM_006204.4(PDE6C):c.*247A>C
|
rs563701427
|
0.00031
|
NM_019098.5(CNGB3):c.1936T>C (p.Leu646=)
|
rs149119556
|
0.00031
|
NM_019098.5(CNGB3):c.2308G>T (p.Val770Phe)
|
rs78239264
|
0.00031
|
NM_000283.4(PDE6B):c.2504-1G>C
|
rs201870319
|
0.00029
|
NM_000539.3(RHO):c.519C>T (p.Ala173=)
|
rs149722668
|
0.00029
|
NM_001252024.2(TRPM1):c.*482A>G
|
rs188493932
|
0.00029
|
NM_001252024.2(TRPM1):c.3919G>A (p.Glu1307Lys)
|
rs200906550
|
0.00029
|
NM_001252024.2(TRPM1):c.729C>T (p.Gly243=)
|
rs188427342
|
0.00029
|
NM_001377295.2(GNAT2):c.14C>T (p.Ala5Val)
|
rs199503029
|
0.00029
|
NM_004727.3(SLC24A1):c.2577C>T (p.Ser859=)
|
rs371059164
|
0.00029
|
NM_019098.5(CNGB3):c.912C>T (p.Val304=)
|
rs117806701
|
0.00029
|
NM_144499.3(GNAT1):c.*1954C>T
|
rs377634380
|
0.00029
|
NM_145200.5(CABP4):c.10G>C (p.Glu4Gln)
|
rs143494300
|
0.00029
|
NM_001004334.4(GPR179):c.3656_3657del (p.Pro1219fs)
|
rs779266036
|
0.00028
|
NM_001377295.2(GNAT2):c.369C>T (p.Leu123=)
|
rs12046787
|
0.00028
|
NM_145200.5(CABP4):c.309C>T (p.Ser103=)
|
rs555315887
|
0.00028
|
NM_145200.5(CABP4):c.318C>T (p.Asp106=)
|
rs375330570
|
0.00028
|
NM_001252024.2(TRPM1):c.1089C>T (p.Leu363=)
|
rs202130526
|
0.00027
|
NM_004727.3(SLC24A1):c.1891-6T>C
|
rs372058206
|
0.00027
|
NM_145200.5(CABP4):c.*1158A>G
|
rs539741322
|
0.00027
|
NM_001252024.2(TRPM1):c.2496A>G (p.Lys832=)
|
rs34915313
|
0.00026
|
NM_001252024.2(TRPM1):c.30C>T (p.Thr10=)
|
rs180878088
|
0.00026
|
NM_001298.3(CNGA3):c.211G>A (p.Ala71Thr)
|
rs61756692
|
0.00026
|
NM_144499.3(GNAT1):c.*5C>T
|
rs554301590
|
0.00026
|
NM_144499.3(GNAT1):c.241G>A (p.Val81Ile)
|
rs201849628
|
0.00026
|
NM_145200.5(CABP4):c.799+15C>T
|
rs374925466
|
0.00026
|
NM_001004334.4(GPR179):c.6798T>G (p.Phe2266Leu)
|
rs141146547
|
0.00025
|
NM_001004334.4(GPR179):c.989G>T (p.Gly330Val)
|
rs372908857
|
0.00025
|
NM_019098.5(CNGB3):c.*1371G>T
|
rs372688369
|
0.00025
|
NM_019098.5(CNGB3):c.2415A>C (p.Glu805Asp)
|
rs186448979
|
0.00025
|
NM_145200.5(CABP4):c.*1040C>A
|
rs186530202
|
0.00025
|
NM_000283.4(PDE6B):c.*545T>C
|
rs149186081
|
0.00024
|
NM_001004334.4(GPR179):c.627C>T (p.Leu209=)
|
rs143660134
|
0.00024
|
NM_001252024.2(TRPM1):c.3970T>C (p.Cys1324Arg)
|
rs201888584
|
0.00024
|
NM_001377295.2(GNAT2):c.591-9T>C
|
rs199666763
|
0.00024
|
NM_004727.3(SLC24A1):c.*809G>A
|
rs755760960
|
0.00024
|
NM_145200.5(CABP4):c.214A>C (p.Asn72His)
|
rs143788427
|
0.00024
|
NM_000283.4(PDE6B):c.*271G>A
|
rs552530901
|
0.00023
|
NM_001252024.2(TRPM1):c.3294-15G>A
|
rs376352901
|
0.00023
|
NM_001298.3(CNGA3):c.1746C>T (p.Asp582=)
|
rs77311157
|
0.00023
|
NM_019098.5(CNGB3):c.1117T>C (p.Trp373Arg)
|
rs145619853
|
0.00023
|
NM_001298.3(CNGA3):c.1949A>C (p.Glu650Ala)
|
rs139368657
|
0.00022
|
NM_001298.3(CNGA3):c.473C>T (p.Ala158Val)
|
rs138934573
|
0.00022
|
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala)
|
rs149802213
|
0.00022
|
NM_145200.5(CABP4):c.370C>T (p.Arg124Cys)
|
rs121917828
|
0.00022
|
NM_000180.4(GUCY2D):c.1984G>A (p.Val662Met)
|
rs143585840
|
0.00021
|
NM_001004334.4(GPR179):c.*453C>T
|
rs539092082
|
0.00021
|
NM_001004334.4(GPR179):c.3900A>T (p.Ile1300=)
|
rs200167781
|
0.00021
|
NM_001252024.2(TRPM1):c.795G>C (p.Leu265=)
|
rs371394864
|
0.00021
|
NM_001298.2(CNGA3):c.-271G>A
|
rs192111633
|
0.00021
|
NM_001298.2(CNGA3):c.-388C>G
|
rs748374868
|
0.00021
|
NM_006204.4(PDE6C):c.*235A>T
|
rs543722110
|
0.00021
|
NM_198506.5(LRIT3):c.*1038C>T
|
rs182511132
|
0.00021
|
NM_198506.5(LRIT3):c.1029G>T (p.Val343=)
|
rs199943498
|
0.00021
|
NM_198506.5(LRIT3):c.30C>A (p.Val10=)
|
rs373793629
|
0.00021
|
NM_000539.3(RHO):c.630C>T (p.Val210=)
|
rs371192803
|
0.00020
|
NM_000541.5(SAG):c.577C>T (p.Arg193Ter)
|
rs201153410
|
0.00020
|
NM_001377295.2(GNAT2):c.928C>T (p.Leu310Phe)
|
rs200883344
|
0.00020
|
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)
|
rs61750168
|
0.00019
|
NM_000180.4(GUCY2D):c.2318T>C (p.Met773Thr)
|
rs143650826
|
0.00019
|
NM_000283.4(PDE6B):c.1805G>A (p.Arg602His)
|
rs752846577
|
0.00019
|
NM_001004334.4(GPR179):c.*454G>A
|
rs138028812
|
0.00019
|
NM_001004334.4(GPR179):c.3508C>T (p.Arg1170Trp)
|
rs201856624
|
0.00019
|
NM_001004334.4(GPR179):c.3726G>A (p.Glu1242=)
|
rs118133878
|
0.00019
|
NM_001004334.4(GPR179):c.5606A>C (p.Gln1869Pro)
|
rs201516786
|
0.00019
|
NM_001298.3(CNGA3):c.1694C>T (p.Thr565Met)
|
rs201747279
|
0.00019
|
NM_001378477.3(NYX):c.1379G>T (p.Cys460Phe)
|
rs374968384
|
0.00019
|
NM_006204.4(PDE6C):c.2144+15T>C
|
rs201956926
|
0.00019
|
NM_006204.4(PDE6C):c.939+4C>T
|
rs371814026
|
0.00019
|
NM_019098.5(CNGB3):c.*798A>C
|
rs886063157
|
0.00019
|
NM_019098.5(CNGB3):c.2410A>T (p.Lys804Ter)
|
rs151039691
|
0.00019
|
NM_198506.5(LRIT3):c.*626G>A
|
rs550462658
|
0.00019
|
NM_198506.5(LRIT3):c.1046C>T (p.Thr349Ile)
|
rs199662798
|
0.00019
|
NM_000283.4(PDE6B):c.2548A>G (p.Thr850Ala)
|
rs141647790
|
0.00018
|
NM_000541.5(SAG):c.1132G>A (p.Val378Ile)
|
rs200602069
|
0.00018
|
NM_001252024.2(TRPM1):c.3252C>T (p.Val1084=)
|
rs773508261
|
0.00018
|
NM_001252024.2(TRPM1):c.4367C>G (p.Thr1456Arg)
|
rs61734297
|
0.00018
|
NM_001298.2(CNGA3):c.-326G>A
|
rs886056487
|
0.00018
|
NM_001298.3(CNGA3):c.110C>T (p.Ser37Leu)
|
rs141086649
|
0.00018
|
NM_001298.3(CNGA3):c.869G>A (p.Arg290His)
|
rs199837807
|
0.00018
|
NM_002905.5(RDH5):c.712G>T (p.Gly238Trp)
|
rs62638191
|
0.00018
|
NM_019098.5(CNGB3):c.1204G>T (p.Val402Phe)
|
rs139825253
|
0.00018
|
NM_001004334.4(GPR179):c.5083G>A (p.Glu1695Lys)
|
rs199697891
|
0.00017
|
NM_001252024.2(TRPM1):c.1602G>A (p.Leu534=)
|
rs368601558
|
0.00017
|
NM_001252024.2(TRPM1):c.2460C>G (p.Gly820=)
|
rs185129255
|
0.00017
|
NM_001708.2(OPN1SW):c.235G>A (p.Gly79Arg)
|
rs104894031
|
0.00017
|
NM_019098.5(CNGB3):c.1178+6T>C
|
rs151236891
|
0.00017
|
NM_019098.5(CNGB3):c.1898A>G (p.Asp633Gly)
|
rs139337746
|
0.00017
|
NM_000283.4(PDE6B):c.1414C>T (p.Arg472Cys)
|
rs143908642
|
0.00016
|
NM_000283.4(PDE6B):c.170C>T (p.Thr57Met)
|
rs149359860
|
0.00016
|
NM_001004334.4(GPR179):c.3568C>T (p.Arg1190Trp)
|
rs200978744
|
0.00016
|
NM_001004334.4(GPR179):c.5859G>A (p.Glu1953=)
|
rs370586289
|
0.00016
|
NM_001252024.2(TRPM1):c.2440-12T>A
|
rs200151910
|
0.00016
|
NM_001252024.2(TRPM1):c.2653A>G (p.Ile885Val)
|
rs201650867
|
0.00016
|
NM_001252024.2(TRPM1):c.362T>C (p.Leu121Pro)
|
rs191205969
|
0.00016
|
NM_001252024.2(TRPM1):c.4812G>C (p.Val1604=)
|
rs143866050
|
0.00016
|
NM_001298.3(CNGA3):c.*516T>C
|
rs886056492
|
0.00016
|
NM_004727.3(SLC24A1):c.754_755del (p.Met252fs)
|
rs777989874
|
0.00016
|
NM_006205.3(PDE6H):c.237G>C (p.Gln79His)
|
rs564659543
|
0.00016
|
NM_019098.5(CNGB3):c.*499G>C
|
rs540507221
|
0.00016
|
NM_019098.5(CNGB3):c.474C>T (p.Pro158=)
|
rs151230930
|
0.00016
|
NM_145200.5(CABP4):c.*394T>A
|
rs1047325440
|
0.00016
|
NM_198506.5(LRIT3):c.1307T>C (p.Met436Thr)
|
rs371356043
|
0.00016
|
NM_000283.4(PDE6B):c.1920+4G>A
|
rs370313003
|
0.00015
|
NM_000539.3(RHO):c.310G>A (p.Val104Ile)
|
rs144317206
|
0.00015
|
NM_001298.3(CNGA3):c.*60G>A
|
rs546240673
|
0.00015
|
NM_006204.4(PDE6C):c.446C>T (p.Thr149Met)
|
rs139652451
|
0.00015
|
NM_019098.5(CNGB3):c.*84C>T
|
rs372938106
|
0.00015
|
NM_019098.5(CNGB3):c.12G>A (p.Ser4=)
|
rs139284415
|
0.00015
|
NM_000539.3(RHO):c.624C>T (p.Phe208=)
|
rs113751838
|
0.00014
|
NM_001004334.4(GPR179):c.5058C>T (p.Ala1686=)
|
rs376750375
|
0.00014
|
NM_001004334.4(GPR179):c.6335C>T (p.Ala2112Val)
|
rs542057732
|
0.00014
|
NM_001252024.2(TRPM1):c.*228C>T
|
rs544752312
|
0.00014
|
NM_001252024.2(TRPM1):c.2297G>A (p.Arg766Gln)
|
rs376234885
|
0.00014
|
NM_001298.3(CNGA3):c.101+1G>A
|
rs147118493
|
0.00014
|
NM_004727.3(SLC24A1):c.1542C>T (p.Ile514=)
|
rs372658740
|
0.00014
|
NM_004727.3(SLC24A1):c.309A>G (p.Thr103=)
|
rs375495390
|
0.00014
|
NM_019098.5(CNGB3):c.*649A>G
|
rs778028865
|
0.00014
|
NM_019098.5(CNGB3):c.*997A>G
|
rs141428300
|
0.00014
|
NM_019098.5(CNGB3):c.2235G>C (p.Glu745Asp)
|
rs201770811
|
0.00014
|
NM_019098.5(CNGB3):c.886_890del (p.Thr296fs)
|
rs759748892
|
0.00014
|
NM_145200.5(CABP4):c.*1413C>T
|
rs563724143
|
0.00014
|
NM_198506.5(LRIT3):c.*1108A>G
|
rs749828551
|
0.00014
|
NM_198506.5(LRIT3):c.1644G>A (p.Gly548=)
|
rs528069315
|
0.00014
|
NM_000283.4(PDE6B):c.133G>A (p.Asp45Asn)
|
rs138423108
|
0.00013
|
NM_000539.3(RHO):c.*1255T>C
|
rs774496991
|
0.00013
|
NM_001004334.4(GPR179):c.1784+8C>T
|
rs137860025
|
0.00013
|
NM_001004334.4(GPR179):c.3145G>A (p.Ala1049Thr)
|
rs188307315
|
0.00013
|
NM_001298.3(CNGA3):c.*1330A>G
|
rs558882744
|
0.00013
|
NM_004727.3(SLC24A1):c.-73A>G
|
rs886051346
|
0.00013
|
NM_004727.3(SLC24A1):c.1374C>T (p.His458=)
|
rs370043190
|
0.00013
|
NM_019098.5(CNGB3):c.*1470G>C
|
rs568808064
|
0.00013
|
NM_019098.5(CNGB3):c.*293T>C
|
rs141717983
|
0.00013
|
NM_019098.5(CNGB3):c.1833C>T (p.His611=)
|
rs368787128
|
0.00013
|
NM_019098.5(CNGB3):c.624C>T (p.Asn208=)
|
rs144347980
|
0.00013
|
NM_019098.5(CNGB3):c.715C>T (p.Arg239Cys)
|
rs200019416
|
0.00013
|
NM_000843.4(GRM6):c.1537G>A (p.Val513Met)
|
rs201396068
|
0.00012
|
NM_001298.2(CNGA3):c.-406C>T
|
rs529394802
|
0.00012
|
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg)
|
rs104893615
|
0.00012
|
NM_001298.3(CNGA3):c.2005G>C (p.Val669Leu)
|
rs148496805
|
0.00012
|
NM_001378477.3(NYX):c.1238C>G (p.Ser413Cys)
|
rs776029387
|
0.00012
|
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter)
|
rs200311463
|
0.00012
|
NM_019098.5(CNGB3):c.459A>C (p.Gly153=)
|
rs149945278
|
0.00012
|
NM_144499.3(GNAT1):c.39G>A (p.Arg13=)
|
rs201955783
|
0.00012
|
NM_000283.4(PDE6B):c.2293G>C (p.Ala765Pro)
|
rs199521106
|
0.00011
|
NM_000539.3(RHO):c.959C>A (p.Thr320Asn)
|
rs138831590
|
0.00011
|
NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter)
|
rs62638214
|
0.00011
|
NM_001252024.2(TRPM1):c.4781A>G (p.His1594Arg)
|
rs200626726
|
0.00011
|
NM_001298.3(CNGA3):c.1034A>G (p.His345Arg)
|
rs780411290
|
0.00011
|
NM_002905.5(RDH5):c.839G>A (p.Arg280His)
|
rs62638193
|
0.00011
|
NM_004727.3(SLC24A1):c.1925A>G (p.Gln642Arg)
|
rs376244274
|
0.00011
|
NM_004727.3(SLC24A1):c.2751C>T (p.Ile917=)
|
rs368057501
|
0.00011
|
NM_019098.5(CNGB3):c.*108C>T
|
rs1031324821
|
0.00011
|
NM_019098.5(CNGB3):c.1369G>A (p.Ala457Thr)
|
rs192568942
|
0.00011
|
NM_019098.5(CNGB3):c.2087G>A (p.Arg696Gln)
|
rs377730576
|
0.00011
|
NM_019098.5(CNGB3):c.721G>A (p.Val241Ile)
|
rs138320784
|
0.00011
|
NM_144499.3(GNAT1):c.38G>A (p.Arg13Lys)
|
rs201006405
|
0.00011
|
NM_144499.3(GNAT1):c.83G>A (p.Arg28Gln)
|
rs149936603
|
0.00011
|
NM_145200.5(CABP4):c.*2004G>T
|
rs570209950
|
0.00011
|
NM_145200.5(CABP4):c.*2836C>T
|
rs145684543
|
0.00011
|
NM_145200.5(CABP4):c.*2860A>T
|
rs148932555
|
0.00011
|
NM_198506.5(LRIT3):c.*1322T>C
|
rs146584985
|
0.00011
|
NM_000180.4(GUCY2D):c.121C>T (p.Leu41Phe)
|
rs61749664
|
0.00010
|
NM_000283.4(PDE6B):c.*309T>A
|
rs559243245
|
0.00010
|
NM_000283.4(PDE6B):c.*504A>G
|
rs886059550
|
0.00010
|
NM_000283.4(PDE6B):c.1927_1948del (p.Asn643fs)
|
rs1325957874
|
0.00010
|
NM_000283.4(PDE6B):c.2352+14G>A
|
rs752968664
|
0.00010
|
NM_000539.3(RHO):c.361+10G>A
|
rs372128112
|
0.00010
|
NM_000539.3(RHO):c.744G>A (p.Lys248=)
|
rs141185480
|
0.00010
|
NM_001004334.4(GPR179):c.2248T>A (p.Ser750Thr)
|
rs772088402
|
0.00010
|
NM_001004334.4(GPR179):c.3348C>T (p.Ser1116=)
|
rs78284900
|
0.00010
|
NM_001004334.4(GPR179):c.5350C>A (p.Pro1784Thr)
|
rs117255299
|
0.00010
|
NM_001298.3(CNGA3):c.129G>A (p.Ser43=)
|
rs372489647
|
0.00010
|
NM_001298.3(CNGA3):c.485A>T (p.Asp162Val)
|
rs747447519
|
0.00010
|
NM_001298.3(CNGA3):c.848G>A (p.Arg283Gln)
|
rs104893614
|
0.00010
|
NM_001378477.3(NYX):c.1034G>A (p.Trp345Ter)
|
rs62637037
|
0.00010
|
NM_004727.3(SLC24A1):c.*2083C>T
|
rs886051360
|
0.00010
|
NM_004727.3(SLC24A1):c.-161G>A
|
rs886051345
|
0.00010
|
NM_006204.4(PDE6C):c.2503G>A (p.Gly835Arg)
|
rs142876079
|
0.00010
|
NM_019098.5(CNGB3):c.1811G>A (p.Arg604Gln)
|
rs369526115
|
0.00010
|
NM_144499.3(GNAT1):c.*728C>T
|
rs774324843
|
0.00010
|
NM_145200.5(CABP4):c.*1390C>T
|
rs564944745
|
0.00010
|
NM_000283.4(PDE6B):c.2193+5G>A
|
rs576895229
|
0.00009
|
NM_000283.4(PDE6B):c.2326G>A (p.Asp776Asn)
|
rs141563823
|
0.00009
|
NM_000283.4(PDE6B):c.967G>A (p.Gly323Ser)
|
rs140224236
|
0.00009
|
NM_000843.4(GRM6):c.137C>T (p.Pro46Leu)
|
rs62638197
|
0.00009
|
NM_001004334.4(GPR179):c.3426C>T (p.Ala1142=)
|
rs371169614
|
0.00009
|
NM_001004334.4(GPR179):c.4459G>A (p.Val1487Met)
|
rs187514572
|
0.00009
|
NM_001004334.4(GPR179):c.5382G>A (p.Met1794Ile)
|
rs199726938
|
0.00009
|
NM_001004334.4(GPR179):c.5905G>A (p.Val1969Ile)
|
rs144104172
|
0.00009
|
NM_001377295.2(GNAT2):c.1057C>T (p.Leu353Phe)
|
rs61754627
|
0.00009
|
NM_004727.3(SLC24A1):c.235C>G (p.Pro79Ala)
|
rs779538393
|
0.00009
|
NM_004727.3(SLC24A1):c.47G>A (p.Arg16Gln)
|
rs201549936
|
0.00009
|
NM_019098.5(CNGB3):c.1149T>C (p.Thr383=)
|
rs554368357
|
0.00009
|
NM_019098.5(CNGB3):c.1367G>A (p.Arg456His)
|
rs150650617
|
0.00009
|
NM_019098.5(CNGB3):c.1982_1984dup (p.Asp661_Leu662insHis)
|
rs780866922
|
0.00009
|
NM_019098.5(CNGB3):c.2047A>C (p.Thr683Pro)
|
rs144474033
|
0.00009
|
NM_019098.5(CNGB3):c.2086C>T (p.Arg696Ter)
|
rs192448853
|
0.00009
|
NM_019098.5(CNGB3):c.419G>A (p.Arg140His)
|
rs373216514
|
0.00009
|
NM_019098.5(CNGB3):c.503C>T (p.Thr168Met)
|
rs755130011
|
0.00009
|
NM_144499.3(GNAT1):c.*903G>A
|
rs912176233
|
0.00009
|
NM_145200.5(CABP4):c.398-8C>T
|
rs372275562
|
0.00009
|
NM_000283.4(PDE6B):c.2269-11C>T
|
rs370169775
|
0.00008
|
NM_000539.3(RHO):c.399C>A (p.Ile133=)
|
rs372812523
|
0.00008
|
NM_001004334.4(GPR179):c.1220G>A (p.Arg407Gln)
|
rs568763662
|
0.00008
|
NM_001004334.4(GPR179):c.3383G>A (p.Arg1128Gln)
|
rs370214602
|
0.00008
|
NM_001252024.2(TRPM1):c.2088-8C>T
|
rs762208610
|
0.00008
|
NM_001252024.2(TRPM1):c.4755T>C (p.Ile1585=)
|
rs201668928
|
0.00008
|
NM_001298.3(CNGA3):c.667C>T (p.Arg223Trp)
|
rs138958917
|
0.00008
|
NM_001377295.2(GNAT2):c.609G>T (p.Gly203=)
|
rs551776784
|
0.00008
|
NM_004727.3(SLC24A1):c.1910C>T (p.Ala637Val)
|
rs375420645
|
0.00008
|
NM_004727.3(SLC24A1):c.776T>C (p.Phe259Ser)
|
rs370617242
|
0.00008
|
NM_006204.4(PDE6C):c.1935+4C>T
|
rs373290960
|
0.00008
|
NM_019098.5(CNGB3):c.1376T>C (p.Met459Thr)
|
rs375886578
|
0.00008
|
NM_019098.5(CNGB3):c.2245A>G (p.Lys749Glu)
|
rs190864281
|
0.00008
|
NM_145200.5(CABP4):c.*2000A>G
|
rs927120262
|
0.00008
|
NM_198506.5(LRIT3):c.*1191T>C
|
rs574005997
|
0.00008
|
NM_000283.4(PDE6B):c.787A>G (p.Thr263Ala)
|
rs761281062
|
0.00007
|
NM_000283.4(PDE6B):c.926G>A (p.Arg309Gln)
|
rs145756948
|
0.00007
|
NM_000541.5(SAG):c.682G>A (p.Val228Met)
|
rs377019945
|
0.00007
|
NM_001004334.4(GPR179):c.4047G>A (p.Ala1349=)
|
rs201461684
|
0.00007
|
NM_001004334.4(GPR179):c.5872T>C (p.Cys1958Arg)
|
rs368927813
|
0.00007
|
NM_001252024.2(TRPM1):c.2514C>T (p.Ile838=)
|
rs376705938
|
0.00007
|
NM_001252024.2(TRPM1):c.3624T>C (p.Ser1208=)
|
rs370122578
|
0.00007
|
NM_001256789.3(CACNA1F):c.1936G>A (p.Ala646Thr)
|
rs986816548
|
0.00007
|
NM_001298.3(CNGA3):c.*1085G>A
|
rs573445072
|
0.00007
|
NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys)
|
rs104893620
|
0.00007
|
NM_004727.3(SLC24A1):c.1890+6G>A
|
rs375850066
|
0.00007
|
NM_004727.3(SLC24A1):c.1945-14C>G
|
rs761704353
|
0.00007
|
NM_004727.3(SLC24A1):c.2884-9G>A
|
rs374590721
|
0.00007
|
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter)
|
rs373862340
|
0.00007
|
NM_019098.5(CNGB3):c.1110T>C (p.Val370=)
|
rs148884146
|
0.00007
|
NM_019098.5(CNGB3):c.1672G>T (p.Gly558Cys)
|
rs749413012
|
0.00007
|
NM_019098.5(CNGB3):c.613A>C (p.Lys205Gln)
|
rs760767009
|
0.00007
|
NM_144499.3(GNAT1):c.882C>T (p.Asp294=)
|
rs775329814
|
0.00007
|
NM_145200.5(CABP4):c.*1527C>T
|
rs547246461
|
0.00007
|
NM_145200.5(CABP4):c.816C>T (p.Leu272=)
|
rs371952355
|
0.00007
|
NM_000283.3(PDE6B):c.*764G>A
|
rs575639886
|
0.00006
|
NM_000283.4(PDE6B):c.*611G>A
|
rs1374125665
|
0.00006
|
NM_000283.4(PDE6B):c.1506C>T (p.Tyr502=)
|
rs750323428
|
0.00006
|
NM_000283.4(PDE6B):c.1798G>A (p.Asp600Asn)
|
rs764605140
|
0.00006
|
NM_000283.4(PDE6B):c.2098T>A (p.Ser700Thr)
|
rs149880099
|
0.00006
|
NM_000283.4(PDE6B):c.344C>T (p.Pro115Leu)
|
rs189172362
|
0.00006
|
NM_000283.4(PDE6B):c.59G>A (p.Arg20His)
|
rs781251175
|
0.00006
|
NM_000283.4(PDE6B):c.682C>A (p.Leu228Ile)
|
rs201584824
|
0.00006
|
NM_000283.4(PDE6B):c.699G>A (p.Thr233=)
|
rs148264146
|
0.00006
|
NM_000539.3(RHO):c.*551G>A
|
rs933661466
|
0.00006
|
NM_001004334.4(GPR179):c.1217G>A (p.Arg406His)
|
rs770208418
|
0.00006
|
NM_001004334.4(GPR179):c.2809G>A (p.Val937Ile)
|
rs765764314
|
0.00006
|
NM_001004334.4(GPR179):c.3400C>T (p.Arg1134Trp)
|
rs376874534
|
0.00006
|
NM_001004334.4(GPR179):c.3806C>T (p.Thr1269Met)
|
rs754266923
|
0.00006
|
NM_001004334.4(GPR179):c.4188A>G (p.Gln1396=)
|
rs201368251
|
0.00006
|
NM_001004334.4(GPR179):c.4739C>T (p.Pro1580Leu)
|
rs778263955
|
0.00006
|
NM_001004334.4(GPR179):c.983C>T (p.Pro328Leu)
|
rs370808770
|
0.00006
|
NM_001252024.2(TRPM1):c.2246C>G (p.Thr749Ser)
|
rs371356729
|
0.00006
|
NM_001252024.2(TRPM1):c.2285G>C (p.Arg762Thr)
|
rs199546092
|
0.00006
|
NM_001252024.2(TRPM1):c.2888G>A (p.Arg963His)
|
rs771644561
|
0.00006
|
NM_001256789.3(CACNA1F):c.4886A>C (p.Glu1629Ala)
|
rs376524533
|
0.00006
|
NM_001298.3(CNGA3):c.*1240C>T
|
rs886056495
|
0.00006
|
NM_001298.3(CNGA3):c.*166G>A
|
rs746901363
|
0.00006
|
NM_001298.3(CNGA3):c.*283G>A
|
rs140093444
|
0.00006
|
NM_001298.3(CNGA3):c.-65G>C
|
rs750494086
|
0.00006
|
NM_001298.3(CNGA3):c.1982G>A (p.Arg661His)
|
rs144715956
|
0.00006
|
NM_001298.3(CNGA3):c.80G>A (p.Arg27His)
|
rs769433253
|
0.00006
|
NM_001377295.2(GNAT2):c.246G>A (p.Leu82=)
|
rs192176115
|
0.00006
|
NM_001377295.2(GNAT2):c.461+10A>T
|
rs772538094
|
0.00006
|
NM_001378477.3(NYX):c.*140G>A
|
rs1011570912
|
0.00006
|
NM_004727.3(SLC24A1):c.175C>G (p.Pro59Ala)
|
rs533092441
|
0.00006
|
NM_004727.3(SLC24A1):c.1818C>T (p.Ile606=)
|
rs368241269
|
0.00006
|
NM_004727.3(SLC24A1):c.2884-15G>A
|
rs371022531
|
0.00006
|
NM_004727.3(SLC24A1):c.3021G>A (p.Val1007=)
|
rs201199381
|
0.00006
|
NM_004727.3(SLC24A1):c.76C>T (p.Leu26Phe)
|
rs755508009
|
0.00006
|
NM_006204.4(PDE6C):c.*209T>C
|
rs530054025
|
0.00006
|
NM_006204.4(PDE6C):c.124G>A (p.Val42Met)
|
rs774245507
|
0.00006
|
NM_006204.4(PDE6C):c.1580G>A (p.Arg527Gln)
|
rs554790963
|
0.00006
|
NM_006204.4(PDE6C):c.356C>T (p.Pro119Leu)
|
rs142772345
|
0.00006
|
NM_006204.4(PDE6C):c.537G>T (p.Leu179=)
|
rs752478645
|
0.00006
|
NM_006204.4(PDE6C):c.85C>T (p.Arg29Trp)
|
rs121918537
|
0.00006
|
NM_006204.4(PDE6C):c.873C>T (p.Tyr291=)
|
rs138970846
|
0.00006
|
NM_007348.4(ATF6):c.970C>T (p.Arg324Cys)
|
rs761357250
|
0.00006
|
NM_019098.5(CNGB3):c.115C>A (p.Gln39Lys)
|
rs375530321
|
0.00006
|
NM_019098.5(CNGB3):c.1531G>A (p.Ala511Thr)
|
rs150642676
|
0.00006
|
NM_019098.5(CNGB3):c.2387A>G (p.Glu796Gly)
|
rs781481819
|
0.00006
|
NM_019098.5(CNGB3):c.670C>T (p.Leu224Phe)
|
rs373286939
|
0.00006
|
NM_019098.5(CNGB3):c.677C>A (p.Thr226Asn)
|
rs202240228
|
0.00006
|
NM_019098.5(CNGB3):c.720C>T (p.Leu240=)
|
rs770816095
|
0.00006
|
NM_198506.5(LRIT3):c.1318C>T (p.Arg440Ter)
|
rs397509378
|
0.00006
|
NM_198506.5(LRIT3):c.327G>A (p.Glu109=)
|
rs992042707
|
0.00006
|
NM_198506.5(LRIT3):c.492A>G (p.Arg164=)
|
rs890325688
|
0.00006
|
NM_198506.5(LRIT3):c.919G>A (p.Gly307Arg)
|
rs145061437
|
0.00006
|
NM_000180.4(GUCY2D):c.2059C>T (p.His687Tyr)
|
rs751340355
|
0.00005
|
NM_000180.4(GUCY2D):c.2281C>T (p.Arg761Trp)
|
rs200637525
|
0.00005
|
NM_000283.3(PDE6B):c.*797G>A
|
rs1463865281
|
0.00005
|
NM_000283.4(PDE6B):c.2344G>A (p.Val782Met)
|
rs145124626
|
0.00005
|
NM_000539.3(RHO):c.*285G>A
|
rs1487459358
|
0.00005
|
NM_000539.3(RHO):c.697-11G>A
|
rs367631575
|
0.00005
|
NM_000843.4(GRM6):c.2122C>T (p.Gln708Ter)
|
rs62638624
|
0.00005
|
NM_001004334.4(GPR179):c.1441C>T (p.Arg481Trp)
|
rs374449680
|
0.00005
|
NM_001004334.4(GPR179):c.3411G>A (p.Ala1137=)
|
rs539071271
|
0.00005
|
NM_001004334.4(GPR179):c.522C>T (p.Ile174=)
|
rs377062748
|
0.00005
|
NM_001252024.2(TRPM1):c.1890C>T (p.Phe630=)
|
rs369315253
|
0.00005
|
NM_001298.3(CNGA3):c.1117G>A (p.Val373Met)
|
rs552553452
|
0.00005
|
NM_001378477.3(NYX):c.-57+99T>C
|
rs945750526
|
0.00005
|
NM_001378477.3(NYX):c.368C>T (p.Ala123Val)
|
rs778437203
|
0.00005
|
NM_004727.3(SLC24A1):c.1911G>A (p.Ala637=)
|
rs372995067
|
0.00005
|
NM_019098.5(CNGB3):c.1924G>A (p.Ala642Thr)
|
rs371424750
|
0.00005
|
NM_019098.5(CNGB3):c.206T>C (p.Ile69Thr)
|
rs777636370
|
0.00005
|
NM_019098.5(CNGB3):c.2342G>A (p.Arg781His)
|
rs772444831
|
0.00005
|
NM_019098.5(CNGB3):c.467C>T (p.Ser156Phe)
|
rs139207764
|
0.00005
|
NM_019098.5(CNGB3):c.968T>G (p.Phe323Cys)
|
rs759770735
|
0.00005
|
NM_145200.5(CABP4):c.*2716T>C
|
rs192454438
|
0.00005
|
NM_145200.5(CABP4):c.69G>A (p.Ala23=)
|
rs775292545
|
0.00005
|
NM_000283.4(PDE6B):c.*381C>T
|
rs1023673457
|
0.00004
|
NM_000283.4(PDE6B):c.204G>C (p.Glu68Asp)
|
rs200079698
|
0.00004
|
NM_000283.4(PDE6B):c.2150G>A (p.Cys717Tyr)
|
rs142936195
|
0.00004
|
NM_000283.4(PDE6B):c.698C>T (p.Thr233Met)
|
rs752852029
|
0.00004
|
NM_000283.4(PDE6B):c.789G>A (p.Thr263=)
|
rs138789637
|
0.00004
|
NM_000539.3(RHO):c.1025C>T (p.Thr342Met)
|
rs183318466
|
0.00004
|
NM_000843.4(GRM6):c.1565G>A (p.Cys522Tyr)
|
rs62638208
|
0.00004
|
NM_001004334.4(GPR179):c.1589G>A (p.Ser530Asn)
|
rs371905233
|
0.00004
|
NM_001004334.4(GPR179):c.7035C>T (p.Gly2345=)
|
rs368426715
|
0.00004
|
NM_001252024.2(TRPM1):c.-101A>G
|
rs574197357
|
0.00004
|
NM_001252024.2(TRPM1):c.1285C>A (p.Pro429Thr)
|
rs374376006
|
0.00004
|
NM_001252024.2(TRPM1):c.1905C>T (p.His635=)
|
rs377099385
|
0.00004
|
NM_001252024.2(TRPM1):c.2169C>T (p.Tyr723=)
|
rs370305789
|
0.00004
|
NM_001252024.2(TRPM1):c.2542G>A (p.Ala848Thr)
|
rs376766834
|
0.00004
|
NM_001252024.2(TRPM1):c.2543C>T (p.Ala848Val)
|
rs180869804
|
0.00004
|
NM_001252024.2(TRPM1):c.2631C>G (p.Gly877=)
|
rs150735353
|
0.00004
|
NM_001252024.2(TRPM1):c.602A>T (p.Asp201Val)
|
rs761283836
|
0.00004
|
NM_001256789.3(CACNA1F):c.5863G>A (p.Asp1955Asn)
|
rs376042913
|
0.00004
|
NM_001298.3(CNGA3):c.*1050A>G
|
rs886056493
|
0.00004
|
NM_001298.3(CNGA3):c.1228C>T (p.Arg410Trp)
|
rs137852608
|
0.00004
|
NM_001298.3(CNGA3):c.144G>A (p.Pro48=)
|
rs199670952
|
0.00004
|
NM_001298.3(CNGA3):c.1557G>A (p.Met519Ile)
|
rs199655686
|
0.00004
|
NM_001298.3(CNGA3):c.1585G>A (p.Val529Met)
|
rs104893619
|
0.00004
|
NM_001298.3(CNGA3):c.1687C>T (p.Arg563Cys)
|
rs150153987
|
0.00004
|
NM_001298.3(CNGA3):c.1688G>A (p.Arg563His)
|
rs552069173
|
0.00004
|
NM_001298.3(CNGA3):c.566+14G>A
|
rs367748425
|
0.00004
|
NM_001377295.2(GNAT2):c.481C>T (p.Arg161Ter)
|
rs745308973
|
0.00004
|
NM_001708.2(OPN1SW):c.790C>T (p.Pro264Ser)
|
rs104894033
|
0.00004
|
NM_002929.3(GRK1):c.1139T>A (p.Val380Asp)
|
rs777094000
|
0.00004
|
NM_004727.3(SLC24A1):c.*1608C>T
|
rs886051358
|
0.00004
|
NM_004727.3(SLC24A1):c.1963C>T (p.Arg655Ter)
|
rs201452975
|
0.00004
|
NM_004727.3(SLC24A1):c.2166G>A (p.Ala722=)
|
rs565350549
|
0.00004
|
NM_004727.3(SLC24A1):c.2349T>C (p.Gly783=)
|
rs886051351
|
0.00004
|
NM_004727.3(SLC24A1):c.2917A>G (p.Met973Val)
|
rs201810804
|
0.00004
|
NM_006204.4(PDE6C):c.-21C>T
|
rs374900090
|
0.00004
|
NM_006204.4(PDE6C):c.1579C>T (p.Arg527Ter)
|
rs1028838062
|
0.00004
|
NM_006204.4(PDE6C):c.283C>T (p.Arg95Cys)
|
rs757099539
|
0.00004
|
NM_019098.5(CNGB3):c.*206G>A
|
rs886063159
|
0.00004
|
NM_019098.5(CNGB3):c.*570T>C
|
rs965656666
|
0.00004
|
NM_019098.5(CNGB3):c.*731C>T
|
rs886063158
|
0.00004
|
NM_019098.5(CNGB3):c.1696C>T (p.His566Tyr)
|
rs144605411
|
0.00004
|
NM_019098.5(CNGB3):c.2248C>T (p.Pro750Ser)
|
rs3735971
|
0.00004
|
NM_019098.5(CNGB3):c.2375C>T (p.Ala792Val)
|
rs140932384
|
0.00004
|
NM_019098.5(CNGB3):c.2383G>A (p.Gly795Arg)
|
rs753083465
|
0.00004
|
NM_019098.5(CNGB3):c.2419G>A (p.Ala807Thr)
|
rs375288585
|
0.00004
|
NM_019098.5(CNGB3):c.450G>T (p.Leu150Phe)
|
rs201881873
|
0.00004
|
NM_019098.5(CNGB3):c.739G>A (p.Ala247Thr)
|
rs150490913
|
0.00004
|
NM_144499.3(GNAT1):c.*2046G>C
|
rs942292553
|
0.00004
|
NM_144499.3(GNAT1):c.*2267C>T
|
rs886058693
|
0.00004
|
NM_144499.3(GNAT1):c.15C>T (p.Ala5=)
|
rs376502535
|
0.00004
|
NM_144499.3(GNAT1):c.773C>T (p.Thr258Met)
|
rs769077570
|
0.00004
|
NM_145200.5(CABP4):c.*1510T>C
|
rs1303691994
|
0.00004
|
NM_145200.5(CABP4):c.646C>T (p.Arg216Ter)
|
rs150115958
|
0.00004
|
NM_198506.5(LRIT3):c.1238C>T (p.Ser413Phe)
|
rs770968977
|
0.00004
|
NM_000283.4(PDE6B):c.132C>G (p.Cys44Trp)
|
rs199974771
|
0.00003
|
NM_000283.4(PDE6B):c.1426G>A (p.Glu476Lys)
|
rs746783836
|
0.00003
|
NM_000283.4(PDE6B):c.1954C>T (p.Gln652Ter)
|
rs373037737
|
0.00003
|
NM_000283.4(PDE6B):c.285C>T (p.Phe95=)
|
rs746211772
|
0.00003
|
NM_000283.4(PDE6B):c.387G>T (p.Glu129Asp)
|
rs752303143
|
0.00003
|
NM_000539.3(RHO):c.*115G>A
|
rs886057969
|
0.00003
|
NM_000539.3(RHO):c.*1294A>G
|
rs1047324551
|
0.00003
|
NM_000539.3(RHO):c.*440C>G
|
rs886057971
|
0.00003
|
NM_000539.3(RHO):c.440G>A (p.Arg147His)
|
rs746468201
|
0.00003
|
NM_000843.4(GRM6):c.1214T>C (p.Ile405Thr)
|
rs121434304
|
0.00003
|
NM_000843.4(GRM6):c.2240C>T (p.Ser747Leu)
|
rs759761288
|
0.00003
|
NM_000843.4(GRM6):c.448G>A (p.Gly150Ser)
|
rs62638202
|
0.00003
|
NM_001004334.4(GPR179):c.*304A>G
|
rs541537671
|
0.00003
|
NM_001004334.4(GPR179):c.*522C>T
|
rs147084359
|
0.00003
|
NM_001004334.4(GPR179):c.131C>A (p.Pro44Gln)
|
rs376962885
|
0.00003
|
NM_001004334.4(GPR179):c.1466G>A (p.Arg489Gln)
|
rs551972571
|
0.00003
|
NM_001004334.4(GPR179):c.2332C>T (p.Arg778Cys)
|
rs759512521
|
0.00003
|
NM_001004334.4(GPR179):c.2348C>T (p.Pro783Leu)
|
rs200492514
|
0.00003
|
NM_001004334.4(GPR179):c.4550dup (p.Met1517fs)
|
rs756928373
|
0.00003
|
NM_001004334.4(GPR179):c.5774T>G (p.Phe1925Cys)
|
rs770905475
|
0.00003
|
NM_001004334.4(GPR179):c.6351G>A (p.Trp2117Ter)
|
rs766582295
|
0.00003
|
NM_001004334.4(GPR179):c.659A>G (p.Tyr220Cys)
|
rs281875236
|
0.00003
|
NM_001252024.2(TRPM1):c.-143G>C
|
rs995949757
|
0.00003
|
NM_001252024.2(TRPM1):c.3017G>A (p.Arg1006His)
|
rs775810789
|
0.00003
|
NM_001252024.2(TRPM1):c.3070A>T (p.Ile1024Phe)
|
rs369484186
|
0.00003
|
NM_001252024.2(TRPM1):c.3191T>G (p.Leu1064Arg)
|
rs200561247
|
0.00003
|
NM_001252024.2(TRPM1):c.3563A>T (p.His1188Leu)
|
rs577672274
|
0.00003
|
NM_001298.2(CNGA3):c.-287C>T
|
rs775933048
|
0.00003
|
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp)
|
rs104893621
|
0.00003
|
NM_001298.3(CNGA3):c.1679C>T (p.Ser560Leu)
|
rs370911601
|
0.00003
|
NM_001298.3(CNGA3):c.1705C>T (p.Arg569Cys)
|
rs757167624
|
0.00003
|
NM_001298.3(CNGA3):c.395+9C>T
|
rs375494943
|
0.00003
|
NM_001298.3(CNGA3):c.572G>A (p.Cys191Tyr)
|
rs761554853
|
0.00003
|
NM_001298.3(CNGA3):c.67C>T (p.Arg23Ter)
|
rs777509481
|
0.00003
|
NM_001298.3(CNGA3):c.68G>A (p.Arg23Gln)
|
rs746563618
|
0.00003
|
NM_001298.3(CNGA3):c.778G>A (p.Asp260Asn)
|
rs374258471
|
0.00003
|
NM_001298.3(CNGA3):c.822G>T (p.Arg274Ser)
|
rs368513591
|
0.00003
|
NM_001377295.2(GNAT2):c.818T>A (p.Leu273His)
|
rs368906691
|
0.00003
|
NM_001378477.3(NYX):c.-56-45T>G
|
rs755997910
|
0.00003
|
NM_001378477.3(NYX):c.787C>G (p.Arg263Gly)
|
rs375834225
|
0.00003
|
NM_001385125.1(OPN1SW):c.173G>A (p.Arg58His)
|
rs764582600
|
0.00003
|
NM_002075.4(GNB3):c.200C>T (p.Ser67Phe)
|
rs140263599
|
0.00003
|
NM_004727.3(SLC24A1):c.*1474A>G
|
rs886051357
|
0.00003
|
NM_004727.3(SLC24A1):c.*2027G>A
|
rs886051359
|
0.00003
|
NM_004727.3(SLC24A1):c.2782G>A (p.Val928Ile)
|
rs536096021
|
0.00003
|
NM_004727.3(SLC24A1):c.2794-11C>A
|
rs879718216
|
0.00003
|
NM_004727.3(SLC24A1):c.980C>T (p.Thr327Ile)
|
rs746176031
|
0.00003
|
NM_006204.4(PDE6C):c.101G>A (p.Gly34Glu)
|
rs772889663
|
0.00003
|
NM_006204.4(PDE6C):c.1120-6T>C
|
rs202031903
|
0.00003
|
NM_006204.4(PDE6C):c.1505G>A (p.Arg502His)
|
rs779174659
|
0.00003
|
NM_006204.4(PDE6C):c.2156T>C (p.Met719Thr)
|
rs1460255181
|
0.00003
|
NM_006204.4(PDE6C):c.2190C>G (p.Pro730=)
|
rs200939953
|
0.00003
|
NM_006204.4(PDE6C):c.986A>C (p.Glu329Ala)
|
rs758391651
|
0.00003
|
NM_019098.5(CNGB3):c.*1476T>A
|
rs914165933
|
0.00003
|
NM_019098.5(CNGB3):c.129G>C (p.Gln43His)
|
rs773587353
|
0.00003
|
NM_019098.5(CNGB3):c.1566C>T (p.Val522=)
|
rs201787120
|
0.00003
|
NM_019098.5(CNGB3):c.1738G>A (p.Val580Ile)
|
rs1256886489
|
0.00003
|
NM_019098.5(CNGB3):c.1829C>T (p.Ala610Val)
|
rs201093395
|
0.00003
|
NM_019098.5(CNGB3):c.1834G>T (p.Gly612Trp)
|
rs201675902
|
0.00003
|
NM_019098.5(CNGB3):c.183G>A (p.Thr61=)
|
rs767130603
|
0.00003
|
NM_019098.5(CNGB3):c.2103G>C (p.Gln701His)
|
rs770214046
|
0.00003
|
NM_019098.5(CNGB3):c.489A>T (p.Gln163His)
|
rs752150266
|
0.00003
|
NM_019098.5(CNGB3):c.607C>T (p.Arg203Ter)
|
rs267606739
|
0.00003
|
NM_144499.3(GNAT1):c.*1379G>A
|
rs886058689
|
0.00003
|
NM_144499.3(GNAT1):c.*1991G>A
|
rs886058690
|
0.00003
|
NM_144499.3(GNAT1):c.294C>T (p.Asp98=)
|
rs374784713
|
0.00003
|
NM_144499.3(GNAT1):c.359C>A (p.Ser120Ter)
|
rs778497200
|
0.00003
|
NM_144499.3(GNAT1):c.904C>T (p.Gln302Ter)
|
rs374913800
|
0.00003
|
NM_145200.5(CABP4):c.*1939A>G
|
rs886048574
|
0.00003
|
NM_145200.5(CABP4):c.*2089T>C
|
rs886048576
|
0.00003
|
NM_145200.5(CABP4):c.*2187G>C
|
rs886048579
|
0.00003
|
NM_198506.5(LRIT3):c.1151C>G (p.Ser384Ter)
|
rs397509379
|
0.00003
|
NM_198506.5(LRIT3):c.733C>T (p.Arg245Trp)
|
rs538101562
|
0.00003
|
NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn)
|
rs188568530
|
0.00002
|
NM_000180.4(GUCY2D):c.760G>T (p.Glu254Ter)
|
rs756730335
|
0.00002
|
NM_000283.4(PDE6B):c.1297G>A (p.Asp433Asn)
|
rs539768252
|
0.00002
|
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro)
|
rs760766981
|
0.00002
|
NM_000283.4(PDE6B):c.1703C>T (p.Thr568Met)
|
rs369980987
|
0.00002
|
NM_000283.4(PDE6B):c.1779C>T (p.Ala593=)
|
rs769147926
|
0.00002
|
NM_000283.4(PDE6B):c.2352+13C>T
|
rs374527841
|
0.00002
|
NM_000283.4(PDE6B):c.258C>T (p.Leu86=)
|
rs886059520
|
0.00002
|
NM_000283.4(PDE6B):c.297G>A (p.Gln99=)
|
rs768652560
|
0.00002
|
NM_000283.4(PDE6B):c.313G>A (p.Glu105Lys)
|
rs398123299
|
0.00002
|
NM_000283.4(PDE6B):c.316C>T (p.Leu106=)
|
rs752429712
|
0.00002
|
NM_000283.4(PDE6B):c.469-5G>A
|
rs530695084
|
0.00002
|
NM_000326.5(RLBP1):c.362G>A (p.Arg121Gln)
|
rs139108078
|
0.00002
|
NM_000539.3(RHO):c.205C>T (p.Arg69Cys)
|
rs761101263
|
0.00002
|
NM_000539.3(RHO):c.491C>T (p.Ala164Val)
|
rs104893793
|
0.00002
|
NM_001004334.4(GPR179):c.2150G>A (p.Arg717His)
|
rs757722345
|
0.00002
|
NM_001004334.4(GPR179):c.2581G>A (p.Glu861Lys)
|
rs756212907
|
0.00002
|
NM_001004334.4(GPR179):c.2605C>T (p.Arg869Trp)
|
rs576833922
|
0.00002
|
NM_001004334.4(GPR179):c.274C>A (p.Pro92Thr)
|
rs1331610447
|
0.00002
|
NM_001004334.4(GPR179):c.3442G>A (p.Asp1148Asn)
|
rs202183326
|
0.00002
|
NM_001004334.4(GPR179):c.4180C>G (p.Pro1394Ala)
|
rs371158139
|
0.00002
|
NM_001004334.4(GPR179):c.4555G>A (p.Glu1519Lys)
|
rs201569873
|
0.00002
|
NM_001004334.4(GPR179):c.5627G>C (p.Trp1876Ser)
|
rs1290248528
|
0.00002
|
NM_001004334.4(GPR179):c.619G>C (p.Gly207Arg)
|
rs1329542100
|
0.00002
|
NM_001004334.4(GPR179):c.663G>T (p.Val221=)
|
rs547308706
|
0.00002
|
NM_001048181.3(OPN1MW2):c.292G>A (p.Ala98Thr)
|
rs782410634
|
0.00002
|
NM_001252024.2(TRPM1):c.1764G>C (p.Arg588Ser)
|
rs779709494
|
0.00002
|
NM_001252024.2(TRPM1):c.1936C>T (p.Arg646Cys)
|
rs387906862
|
0.00002
|
NM_001252024.2(TRPM1):c.2316+11C>T
|
rs369026007
|
0.00002
|
NM_001252024.2(TRPM1):c.2778C>T (p.Leu926=)
|
rs761531039
|
0.00002
|
NM_001252024.2(TRPM1):c.4501C>T (p.Arg1501Cys)
|
rs561717036
|
0.00002
|
NM_001252024.2(TRPM1):c.942G>A (p.Ala314=)
|
rs768420045
|
0.00002
|
NM_001256789.3(CACNA1F):c.1108G>A (p.Val370Ile)
|
rs782458308
|
0.00002
|
NM_001256789.3(CACNA1F):c.1276+34G>A
|
rs782575860
|
0.00002
|
NM_001298.3(CNGA3):c.*470C>T
|
rs1273341168
|
0.00002
|
NM_001298.3(CNGA3):c.1126G>A (p.Glu376Lys)
|
rs1377555853
|
0.00002
|
NM_001298.3(CNGA3):c.1615G>A (p.Val539Met)
|
rs374275399
|
0.00002
|
NM_001298.3(CNGA3):c.1642G>A (p.Gly548Arg)
|
rs781227859
|
0.00002
|
NM_001298.3(CNGA3):c.1658T>A (p.Leu553Gln)
|
rs745779023
|
0.00002
|
NM_001298.3(CNGA3):c.450-1G>A
|
rs754158805
|
0.00002
|
NM_001298.3(CNGA3):c.471T>G (p.Asp157Glu)
|
rs199631623
|
0.00002
|
NM_001298.3(CNGA3):c.59C>T (p.Thr20Ile)
|
rs143489966
|
0.00002
|
NM_001298.3(CNGA3):c.62C>G (p.Ser21Ter)
|
rs1402442627
|
0.00002
|
NM_001298.3(CNGA3):c.830G>A (p.Arg277His)
|
rs778114016
|
0.00002
|
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp)
|
rs104893613
|
0.00002
|
NM_001377295.2(GNAT2):c.724C>T (p.Arg242Cys)
|
rs754414120
|
0.00002
|
NM_001378477.3(NYX):c.*744C>T
|
rs780639009
|
0.00002
|
NM_002929.3(GRK1):c.1138G>T (p.Val380Phe)
|
rs995065177
|
0.00002
|
NM_002929.3(GRK1):c.1177C>T (p.Arg393Ter)
|
rs137877289
|
0.00002
|
NM_004727.3(SLC24A1):c.*295G>A
|
rs886051353
|
0.00002
|
NM_004727.3(SLC24A1):c.1287C>T (p.Pro429=)
|
rs769956786
|
0.00002
|
NM_004727.3(SLC24A1):c.2226C>T (p.Gly742=)
|
rs372137068
|
0.00002
|
NM_004727.3(SLC24A1):c.2533G>A (p.Glu845Lys)
|
rs532808985
|
0.00002
|
NM_004727.3(SLC24A1):c.3051-9A>G
|
rs774208027
|
0.00002
|
NM_004727.3(SLC24A1):c.3179C>T (p.Ala1060Val)
|
rs760183851
|
0.00002
|
NM_006204.4(PDE6C):c.2512G>A (p.Glu838Lys)
|
rs777275171
|
0.00002
|
NM_006204.4(PDE6C):c.558G>A (p.Val186=)
|
rs200979646
|
0.00002
|
NM_006204.4(PDE6C):c.775C>T (p.Arg259Ter)
|
rs757622521
|
0.00002
|
NM_019098.5(CNGB3):c.*183A>C
|
rs1199541859
|
0.00002
|
NM_019098.5(CNGB3):c.1126A>G (p.Asn376Asp)
|
rs754937899
|
0.00002
|
NM_019098.5(CNGB3):c.1320+4A>G
|
rs1026427970
|
0.00002
|
NM_019098.5(CNGB3):c.1432C>T (p.Arg478Ter)
|
rs201320564
|
0.00002
|
NM_019098.5(CNGB3):c.1578+1G>A
|
rs372006750
|
0.00002
|
NM_019098.5(CNGB3):c.1663-1205G>A
|
rs1000861056
|
0.00002
|
NM_019098.5(CNGB3):c.221C>T (p.Ser74Phe)
|
rs762689312
|
0.00002
|
NM_019098.5(CNGB3):c.2267G>A (p.Cys756Tyr)
|
rs758659088
|
0.00002
|
NM_019098.5(CNGB3):c.475G>A (p.Glu159Lys)
|
rs777404947
|
0.00002
|
NM_019098.5(CNGB3):c.646C>T (p.Arg216Ter)
|
rs768345097
|
0.00002
|
NM_019098.5(CNGB3):c.995C>T (p.Thr332Ile)
|
rs1027900338
|
0.00002
|
NM_144499.3(GNAT1):c.165C>T (p.Asp55=)
|
rs776566245
|
0.00002
|
NM_145200.5(CABP4):c.*1063G>A
|
rs191030743
|
0.00002
|
NM_145200.5(CABP4):c.*2098C>T
|
rs886048577
|
0.00002
|
NM_145200.5(CABP4):c.*26C>T
|
rs747352890
|
0.00002
|
NM_145200.5(CABP4):c.*2958T>C
|
rs936395339
|
0.00002
|
NM_145200.5(CABP4):c.230G>C (p.Gly77Ala)
|
rs748865845
|
0.00002
|
NM_145200.5(CABP4):c.292C>T (p.Arg98Ter)
|
rs777555935
|
0.00002
|
NM_145200.5(CABP4):c.673C>T (p.Arg225Ter)
|
rs531851447
|
0.00002
|
NM_198506.5(LRIT3):c.332G>A (p.Arg111His)
|
rs867751556
|
0.00002
|
NM_198506.5(LRIT3):c.983G>A (p.Cys328Tyr)
|
rs376610215
|
0.00002
|
NM_206933.4(USH2A):c.10808C>T (p.Ala3603Val)
|
rs753430531
|
0.00002
|
NM_000180.4(GUCY2D):c.1633C>T (p.Gln545Ter)
|
rs1290420698
|
0.00001
|
NM_000180.4(GUCY2D):c.2146G>A (p.Asp716Asn)
|
rs755464893
|
0.00001
|
NM_000283.3(PDE6B):c.*692G>A
|
rs1444528398
|
0.00001
|
NM_000283.4(PDE6B):c.*187G>A
|
rs1014159767
|
0.00001
|
NM_000283.4(PDE6B):c.*215A>G
|
rs1040628827
|
0.00001
|
NM_000283.4(PDE6B):c.*21C>T
|
rs371005251
|
0.00001
|
NM_000283.4(PDE6B):c.*279G>A
|
rs886059548
|
0.00001
|
NM_000283.4(PDE6B):c.*79A>G
|
rs753277194
|
0.00001
|
NM_000283.4(PDE6B):c.109G>A (p.Glu37Lys)
|
rs376908835
|
0.00001
|
NM_000283.4(PDE6B):c.1459G>A (p.Glu487Lys)
|
rs139369984
|
0.00001
|
NM_000283.4(PDE6B):c.1590C>T (p.Val530=)
|
rs202244041
|
0.00001
|
NM_000283.4(PDE6B):c.1624C>T (p.Arg542Trp)
|
rs760042062
|
0.00001
|
NM_000283.4(PDE6B):c.1945A>G (p.Asn649Asp)
|
rs768939011
|
0.00001
|
NM_000283.4(PDE6B):c.1996G>A (p.Ala666Thr)
|
rs779474710
|
0.00001
|
NM_000283.4(PDE6B):c.2091G>A (p.Glu697=)
|
rs886059545
|
0.00001
|
NM_000283.4(PDE6B):c.262C>T (p.Gln88Ter)
|
rs970768801
|
0.00001
|
NM_000283.4(PDE6B):c.293G>A (p.Arg98His)
|
rs776050413
|
0.00001
|
NM_000283.4(PDE6B):c.482G>A (p.Ser161Asn)
|
rs574098823
|
0.00001
|
NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile)
|
rs780521818
|
0.00001
|
NM_000283.4(PDE6B):c.932T>C (p.Ile311Thr)
|
rs886059543
|
0.00001
|
NM_000539.3(RHO):c.*1144C>T
|
rs886057977
|
0.00001
|
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)
|
rs29001566
|
0.00001
|
NM_000539.3(RHO):c.48G>A (p.Ala16=)
|
rs766112074
|
0.00001
|
NM_000539.3(RHO):c.551A>G (p.Gln184Arg)
|
rs1402468701
|
0.00001
|
NM_000539.3(RHO):c.62G>A (p.Arg21His)
|
rs552455660
|
0.00001
|
NM_000539.3(RHO):c.732G>A (p.Gln244=)
|
rs148222991
|
0.00001
|
NM_000539.3(RHO):c.754C>T (p.Arg252Cys)
|
rs752805805
|
0.00001
|
NM_000539.3(RHO):c.87C>T (p.Tyr29=)
|
rs149084537
|
0.00001
|
NM_000539.3(RHO):c.962T>A (p.Ile321Asn)
|
rs1316267671
|
0.00001
|
NM_000541.5(SAG):c.208C>T (p.Arg70Cys)
|
rs777934036
|
0.00001
|
NM_001004334.4(GPR179):c.*359C>G
|
rs143494935
|
0.00001
|
NM_001004334.4(GPR179):c.1070T>C (p.Leu357Pro)
|
rs747110718
|
0.00001
|
NM_001004334.4(GPR179):c.1417C>T (p.Leu473=)
|
rs762389933
|
0.00001
|
NM_001004334.4(GPR179):c.148C>T (p.Gln50Ter)
|
rs767430727
|
0.00001
|
NM_001004334.4(GPR179):c.1785-3C>T
|
rs1394125999
|
0.00001
|
NM_001004334.4(GPR179):c.180C>T (p.Leu60=)
|
rs770286670
|
0.00001
|
NM_001004334.4(GPR179):c.1947C>T (p.Asp649=)
|
rs372049950
|
0.00001
|
NM_001004334.4(GPR179):c.2149C>T (p.Arg717Cys)
|
rs767911479
|
0.00001
|
NM_001004334.4(GPR179):c.272T>C (p.Leu91Pro)
|
rs867417666
|
0.00001
|
NM_001004334.4(GPR179):c.296C>T (p.Ala99Val)
|
rs201405656
|
0.00001
|
NM_001004334.4(GPR179):c.3110T>C (p.Val1037Ala)
|
rs2037343188
|
0.00001
|
NM_001004334.4(GPR179):c.3349G>A (p.Gly1117Arg)
|
rs771334464
|
0.00001
|
NM_001004334.4(GPR179):c.3357G>A (p.Ala1119=)
|
rs547577586
|
0.00001
|
NM_001004334.4(GPR179):c.3447C>T (p.Asp1149=)
|
rs1262445850
|
0.00001
|
NM_001004334.4(GPR179):c.3466C>G (p.Gln1156Glu)
|
rs1184314233
|
0.00001
|
NM_001004334.4(GPR179):c.4071G>A (p.Lys1357=)
|
rs1168693630
|
0.00001
|
NM_001004334.4(GPR179):c.4810G>T (p.Glu1604Ter)
|
rs1464221989
|
0.00001
|
NM_001004334.4(GPR179):c.489C>T (p.Ala163=)
|
rs749471277
|
0.00001
|
NM_001004334.4(GPR179):c.4996C>T (p.Gln1666Ter)
|
rs1460626520
|
0.00001
|
NM_001004334.4(GPR179):c.5639A>G (p.Asp1880Gly)
|
rs745835590
|
0.00001
|
NM_001004334.4(GPR179):c.598C>T (p.Arg200Ter)
|
rs387907138
|
0.00001
|
NM_001004334.4(GPR179):c.6457G>A (p.Gly2153Arg)
|
rs757565461
|
0.00001
|
NM_001004334.4(GPR179):c.6621C>T (p.Ser2207=)
|
rs781391422
|
0.00001
|
NM_001004334.4(GPR179):c.6965C>T (p.Thr2322Ile)
|
rs759484427
|
0.00001
|
NM_001004334.4(GPR179):c.858A>G (p.Pro286=)
|
rs758285150
|
0.00001
|
NM_001004334.4(GPR179):c.952C>T (p.Arg318Cys)
|
rs773004800
|
0.00001
|
NM_001004334.4(GPR179):c.98G>A (p.Arg33His)
|
rs886052900
|
0.00001
|
NM_001039348.3(EFEMP1):c.1189T>C (p.Tyr397His)
|
rs1553348960
|
0.00001
|
NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr)
|
rs1356639316
|
0.00001
|
NM_001252024.2(TRPM1):c.*350C>G
|
rs934884046
|
0.00001
|
NM_001252024.2(TRPM1):c.1126G>A (p.Asp376Asn)
|
rs765946115
|
0.00001
|
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=)
|
rs768701595
|
0.00001
|
NM_001252024.2(TRPM1):c.1333A>C (p.Thr445Pro)
|
rs886051031
|
0.00001
|
NM_001252024.2(TRPM1):c.1455A>G (p.Gln485=)
|
rs755094572
|
0.00001
|
NM_001252024.2(TRPM1):c.1623+5G>A
|
rs765895314
|
0.00001
|
NM_001252024.2(TRPM1):c.1867G>A (p.Asp623Asn)
|
rs769362413
|
0.00001
|
NM_001252024.2(TRPM1):c.1898C>A (p.Pro633His)
|
rs267607139
|
0.00001
|
NM_001252024.2(TRPM1):c.191G>C (p.Trp64Ser)
|
rs754980973
|
0.00001
|
NM_001252024.2(TRPM1):c.1966C>T (p.Arg656Ter)
|
rs763546583
|
0.00001
|
NM_001252024.2(TRPM1):c.2087+2T>C
|
rs766862238
|
0.00001
|
NM_001252024.2(TRPM1):c.2087+6T>C
|
rs760758606
|
0.00001
|
NM_001252024.2(TRPM1):c.2268C>T (p.Thr756=)
|
rs756489745
|
0.00001
|
NM_001252024.2(TRPM1):c.2269G>A (p.Asp757Asn)
|
rs369155075
|
0.00001
|
NM_001252024.2(TRPM1):c.2308G>A (p.Gly770Ser)
|
rs746594891
|
0.00001
|
NM_001252024.2(TRPM1):c.2317-1G>C
|
rs756690940
|
0.00001
|
NM_001252024.2(TRPM1):c.2440-2A>G
|
rs762634272
|
0.00001
|
NM_001252024.2(TRPM1):c.2633G>A (p.Trp878Ter)
|
rs765645888
|
0.00001
|
NM_001252024.2(TRPM1):c.2695C>T (p.Arg899Ter)
|
rs1485132228
|
0.00001
|
NM_001252024.2(TRPM1):c.279+147T>G
|
rs150441866
|
0.00001
|
NM_001252024.2(TRPM1):c.2834A>G (p.Tyr945Cys)
|
rs756380069
|
0.00001
|
NM_001252024.2(TRPM1):c.3007G>A (p.Gly1003Arg)
|
rs769138762
|
0.00001
|
NM_001252024.2(TRPM1):c.3148+1G>A
|
rs779821510
|
0.00001
|
NM_001252024.2(TRPM1):c.3214dup (p.Trp1072fs)
|
rs770380556
|
0.00001
|
NM_001252024.2(TRPM1):c.3410G>T (p.Ser1137Ile)
|
rs375136665
|
0.00001
|
NM_001252024.2(TRPM1):c.3533A>G (p.His1178Arg)
|
rs776483887
|
0.00001
|
NM_001252024.2(TRPM1):c.378T>C (p.His126=)
|
rs769783908
|
0.00001
|
NM_001252024.2(TRPM1):c.386T>C (p.Leu129Pro)
|
rs2034428006
|
0.00001
|
NM_001252024.2(TRPM1):c.4838A>T (p.Lys1613Met)
|
rs753089696
|
0.00001
|
NM_001252024.2(TRPM1):c.494-8G>A
|
rs757371423
|
0.00001
|
NM_001252024.2(TRPM1):c.75C>T (p.Asp25=)
|
rs777321357
|
0.00001
|
NM_001256789.3(CACNA1F):c.1840C>T (p.Arg614Ter)
|
rs886039559
|
0.00001
|
NM_001256789.3(CACNA1F):c.2086-2A>G
|
rs1358925739
|
0.00001
|
NM_001256789.3(CACNA1F):c.2543+1G>A
|
rs886044841
|
0.00001
|
NM_001256789.3(CACNA1F):c.4051C>T (p.Arg1351Ter)
|
rs782740998
|
0.00001
|
NM_001256789.3(CACNA1F):c.5446C>T (p.Arg1816Ter)
|
rs782034481
|
0.00001
|
NM_001298.3(CNGA3):c.*316A>G
|
rs1260317371
|
0.00001
|
NM_001298.3(CNGA3):c.*469A>G
|
rs536138883
|
0.00001
|
NM_001298.3(CNGA3):c.*894C>T
|
rs540492671
|
0.00001
|
NM_001298.3(CNGA3):c.1061A>G (p.Tyr354Cys)
|
rs760524816
|
0.00001
|
NM_001298.3(CNGA3):c.1063A>G (p.Ser355Gly)
|
rs748583869
|
0.00001
|
NM_001298.3(CNGA3):c.1114C>T (p.Pro372Ser)
|
rs1464167194
|
0.00001
|
NM_001298.3(CNGA3):c.1315C>T (p.Arg439Trp)
|
rs749842881
|
0.00001
|
NM_001298.3(CNGA3):c.1320G>A (p.Trp440Ter)
|
rs1553450764
|
0.00001
|
NM_001298.3(CNGA3):c.1347G>A (p.Lys449=)
|
rs778251470
|
0.00001
|
NM_001298.3(CNGA3):c.1537G>A (p.Gly513Arg)
|
rs764918448
|
0.00001
|
NM_001298.3(CNGA3):c.154A>G (p.Met52Val)
|
rs368962370
|
0.00001
|
NM_001298.3(CNGA3):c.1717T>C (p.Tyr573His)
|
rs1330420689
|
0.00001
|
NM_001298.3(CNGA3):c.1768G>A (p.Glu590Lys)
|
rs763041373
|
0.00001
|
NM_001298.3(CNGA3):c.1777G>A (p.Glu593Lys)
|
rs774676415
|
0.00001
|
NM_001298.3(CNGA3):c.1784A>G (p.Lys595Arg)
|
rs1558821005
|
0.00001
|
NM_001298.3(CNGA3):c.1866C>T (p.Asp622=)
|
rs886056490
|
0.00001
|
NM_001298.3(CNGA3):c.1A>T (p.Met1Leu)
|
rs1324338876
|
0.00001
|
NM_001298.3(CNGA3):c.2050G>A (p.Gly684Arg)
|
rs754086920
|
0.00001
|
NM_001298.3(CNGA3):c.225C>T (p.Arg75=)
|
rs200404774
|
0.00001
|
NM_001298.3(CNGA3):c.238C>T (p.Leu80=)
|
rs575326068
|
0.00001
|
NM_001298.3(CNGA3):c.373G>A (p.Glu125Lys)
|
rs994092587
|
0.00001
|
NM_001298.3(CNGA3):c.449+13A>G
|
rs1692582037
|
0.00001
|
NM_001298.3(CNGA3):c.478G>A (p.Val160Met)
|
rs373542579
|
0.00001
|
NM_001298.3(CNGA3):c.488C>T (p.Pro163Leu)
|
rs104893612
|
0.00001
|
NM_001298.3(CNGA3):c.513G>A (p.Trp171Ter)
|
rs762773298
|
0.00001
|
NM_001298.3(CNGA3):c.609G>T (p.Trp203Cys)
|
rs757650055
|
0.00001
|
NM_001298.3(CNGA3):c.955T>C (p.Cys319Arg)
|
rs753625117
|
0.00001
|
NM_001298.3(CNGA3):c.983T>C (p.Ile328Thr)
|
rs752170364
|
0.00001
|
NM_001377295.2(GNAT2):c.1031T>C (p.Ile344Thr)
|
rs753014058
|
0.00001
|
NM_001377295.2(GNAT2):c.107T>G (p.Leu36Arg)
|
rs1240543072
|
0.00001
|
NM_001377295.2(GNAT2):c.139A>G (p.Ser47Gly)
|
rs146606352
|
0.00001
|
NM_001377295.2(GNAT2):c.213T>G (p.Ala71=)
|
rs577261001
|
0.00001
|
NM_001377295.2(GNAT2):c.243C>G (p.Ile81Met)
|
rs200316722
|
0.00001
|
NM_001377295.2(GNAT2):c.313C>T (p.Arg105Ter)
|
rs1403825722
|
0.00001
|
NM_001377295.2(GNAT2):c.672T>C (p.Cys224=)
|
rs201230566
|
0.00001
|
NM_001377295.2(GNAT2):c.715G>A (p.Glu239Lys)
|
rs140788789
|
0.00001
|
NM_001377295.2(GNAT2):c.937C>T (p.Arg313Ter)
|
rs748981899
|
0.00001
|
NM_004727.3(SLC24A1):c.*1363G>A
|
rs886051356
|
0.00001
|
NM_004727.3(SLC24A1):c.*1616A>T
|
rs1433961660
|
0.00001
|
NM_004727.3(SLC24A1):c.*203G>A
|
rs1022815934
|
0.00001
|
NM_004727.3(SLC24A1):c.*2040T>C
|
rs927721327
|
0.00001
|
NM_004727.3(SLC24A1):c.-127+10G>A
|
rs562775135
|
0.00001
|
NM_004727.3(SLC24A1):c.-49T>C
|
rs777522531
|
0.00001
|
NM_004727.3(SLC24A1):c.134G>A (p.Arg45Gln)
|
rs886051348
|
0.00001
|
NM_004727.3(SLC24A1):c.1441C>G (p.Leu481Val)
|
rs755476531
|
0.00001
|
NM_004727.3(SLC24A1):c.1892C>T (p.Pro631Leu)
|
rs771446643
|
0.00001
|
NM_004727.3(SLC24A1):c.2401G>T (p.Glu801Ter)
|
rs1410075831
|
0.00001
|
NM_004727.3(SLC24A1):c.2884-1G>C
|
rs766014688
|
0.00001
|
NM_004727.3(SLC24A1):c.3206T>A (p.Ile1069Asn)
|
rs771727416
|
0.00001
|
NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter)
|
rs771409809
|
0.00001
|
NM_006204.4(PDE6C):c.*87C>T
|
rs540915530
|
0.00001
|
NM_006204.4(PDE6C):c.1072-8C>T
|
rs781649493
|
0.00001
|
NM_006204.4(PDE6C):c.1307C>G (p.Thr436Ser)
|
rs762249684
|
0.00001
|
NM_006204.4(PDE6C):c.1482+9T>C
|
rs201702907
|
0.00001
|
NM_006204.4(PDE6C):c.1557C>T (p.His519=)
|
rs762809900
|
0.00001
|
NM_006204.4(PDE6C):c.2037-13G>C
|
rs765202218
|
0.00001
|
NM_006204.4(PDE6C):c.211G>T (p.Glu71Ter)
|
rs756324901
|
0.00001
|
NM_006204.4(PDE6C):c.2284-10C>A
|
rs1199306848
|
0.00001
|
NM_006204.4(PDE6C):c.2304A>G (p.Lys768=)
|
rs768365686
|
0.00001
|
NM_006204.4(PDE6C):c.306G>A (p.Arg102=)
|
rs545034158
|
0.00001
|
NM_006204.4(PDE6C):c.316G>A (p.Gly106Ser)
|
rs201231586
|
0.00001
|
NM_006204.4(PDE6C):c.542C>T (p.Ala181Val)
|
rs760690854
|
0.00001
|
NM_006204.4(PDE6C):c.712C>T (p.Arg238Ter)
|
rs762426409
|
0.00001
|
NM_006204.4(PDE6C):c.836T>C (p.Ile279Thr)
|
rs762152984
|
0.00001
|
NM_006205.3(PDE6H):c.*47G>C
|
rs886049108
|
0.00001
|
NM_006205.3(PDE6H):c.-42C>T
|
rs955172114
|
0.00001
|
NM_007348.4(ATF6):c.677C>A (p.Ala226Glu)
|
rs1386210791
|
0.00001
|
NM_007348.4(ATF6):c.950G>A (p.Arg317Gln)
|
rs771933147
|
0.00001
|
NM_019098.4(CNGB3):c.*1701C>T
|
rs886063154
|
0.00001
|
NM_019098.5(CNGB3):c.*1218C>T
|
rs1054383456
|
0.00001
|
NM_019098.5(CNGB3):c.*1368T>C
|
rs886063155
|
0.00001
|
NM_019098.5(CNGB3):c.*1431G>A
|
rs1337904740
|
0.00001
|
NM_019098.5(CNGB3):c.1052A>G (p.Tyr351Cys)
|
rs777359145
|
0.00001
|
NM_019098.5(CNGB3):c.1063C>T (p.Arg355Ter)
|
rs764742792
|
0.00001
|
NM_019098.5(CNGB3):c.1160A>G (p.Tyr387Cys)
|
rs886063160
|
0.00001
|
NM_019098.5(CNGB3):c.1167_1168insC (p.Glu390fs)
|
rs1389959147
|
0.00001
|
NM_019098.5(CNGB3):c.1207C>T (p.Arg403Ter)
|
rs770786127
|
0.00001
|
NM_019098.5(CNGB3):c.1255G>T (p.Glu419Ter)
|
rs372302139
|
0.00001
|
NM_019098.5(CNGB3):c.1422T>C (p.Leu474=)
|
rs908750016
|
0.00001
|
NM_019098.5(CNGB3):c.1447T>G (p.Tyr483Asp)
|
rs373270306
|
0.00001
|
NM_019098.5(CNGB3):c.1498A>G (p.Lys500Glu)
|
rs373679269
|
0.00001
|
NM_019098.5(CNGB3):c.1515G>A (p.Thr505=)
|
rs751667290
|
0.00001
|
NM_019098.5(CNGB3):c.1607T>C (p.Met536Thr)
|
rs367652647
|
0.00001
|
NM_019098.5(CNGB3):c.168G>C (p.Lys56Asn)
|
rs1410218983
|
0.00001
|
NM_019098.5(CNGB3):c.1775A>G (p.Glu592Gly)
|
rs566844518
|
0.00001
|
NM_019098.5(CNGB3):c.1778T>G (p.Ile593Ser)
|
rs780344162
|
0.00001
|
NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter)
|
rs200805087
|
0.00001
|
NM_019098.5(CNGB3):c.1856T>C (p.Leu619Pro)
|
rs1358482909
|
0.00001
|
NM_019098.5(CNGB3):c.1929-1G>A
|
rs750257554
|
0.00001
|
NM_019098.5(CNGB3):c.2050G>A (p.Gly684Arg)
|
rs1488638223
|
0.00001
|
NM_019098.5(CNGB3):c.2103+4A>G
|
rs762261801
|
0.00001
|
NM_019098.5(CNGB3):c.2180A>G (p.Gln727Arg)
|
rs758606162
|
0.00001
|
NM_019098.5(CNGB3):c.2350C>T (p.Leu784Phe)
|
rs750535143
|
0.00001
|
NM_019098.5(CNGB3):c.241G>A (p.Asp81Asn)
|
rs148834016
|
0.00001
|
NM_019098.5(CNGB3):c.260A>G (p.Asp87Gly)
|
rs1165080500
|
0.00001
|
NM_019098.5(CNGB3):c.2T>C (p.Met1Thr)
|
rs1554619514
|
0.00001
|
NM_019098.5(CNGB3):c.441G>T (p.Lys147Asn)
|
rs769966310
|
0.00001
|
NM_019098.5(CNGB3):c.460G>T (p.Asp154Tyr)
|
rs1823848358
|
0.00001
|
NM_019098.5(CNGB3):c.468C>T (p.Ser156=)
|
rs1442224621
|
0.00001
|
NM_019098.5(CNGB3):c.644-1G>C
|
rs201794629
|
0.00001
|
NM_019098.5(CNGB3):c.680T>C (p.Leu227Pro)
|
rs752920111
|
0.00001
|
NM_019098.5(CNGB3):c.738C>T (p.Thr246=)
|
rs781628736
|
0.00001
|
NM_019098.5(CNGB3):c.756C>G (p.Tyr252Ter)
|
rs371318766
|
0.00001
|
NM_019098.5(CNGB3):c.768G>A (p.Ala256=)
|
rs767128005
|
0.00001
|
NM_019098.5(CNGB3):c.773T>C (p.Ile258Thr)
|
rs886063162
|
0.00001
|
NM_019098.5(CNGB3):c.782A>G (p.Asp261Gly)
|
rs1233466909
|
0.00001
|
NM_019098.5(CNGB3):c.818C>T (p.Pro273Leu)
|
rs1466687341
|
0.00001
|
NM_019098.5(CNGB3):c.82G>A (p.Glu28Lys)
|
rs752910520
|
0.00001
|
NM_019098.5(CNGB3):c.831T>G (p.Phe277Leu)
|
rs1420784567
|
0.00001
|
NM_019098.5(CNGB3):c.852+1G>C
|
rs1201521544
|
0.00001
|
NM_019098.5(CNGB3):c.853G>A (p.Val285Met)
|
rs1042970165
|
0.00001
|
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter)
|
rs1290241933
|
0.00001
|
NM_144499.3(GNAT1):c.*1101C>T
|
rs886058687
|
0.00001
|
NM_144499.3(GNAT1):c.*183C>G
|
rs556104512
|
0.00001
|
NM_144499.3(GNAT1):c.*2074T>C
|
rs886058691
|
0.00001
|
NM_144499.3(GNAT1):c.*2129G>A
|
rs886058692
|
0.00001
|
NM_144499.3(GNAT1):c.*678C>T
|
rs1004131014
|
0.00001
|
NM_144499.3(GNAT1):c.273C>A (p.Tyr91Ter)
|
rs143481438
|
0.00001
|
NM_144499.3(GNAT1):c.926G>C (p.Arg309Pro)
|
rs367790137
|
0.00001
|
NM_145200.5(CABP4):c.*1402G>A
|
rs949888937
|
0.00001
|
NM_145200.5(CABP4):c.*1662G>A
|
rs1257789507
|
0.00001
|
NM_145200.5(CABP4):c.*1827C>T
|
rs886048566
|
0.00001
|
NM_145200.5(CABP4):c.*1957A>G
|
rs1181533164
|
0.00001
|
NM_145200.5(CABP4):c.*2438G>A
|
rs886048582
|
0.00001
|
NM_145200.5(CABP4):c.*2583C>T
|
rs886048583
|
0.00001
|
NM_145200.5(CABP4):c.*295G>A
|
rs181113902
|
0.00001
|
NM_145200.5(CABP4):c.*669T>C
|
rs886048564
|
0.00001
|
NM_145200.5(CABP4):c.228T>G (p.Thr76=)
|
rs1050306159
|
0.00001
|
NM_145200.5(CABP4):c.367-8C>T
|
rs200871690
|
0.00001
|
NM_145200.5(CABP4):c.397G>A (p.Glu133Lys)
|
rs763497383
|
0.00001
|
NM_145200.5(CABP4):c.432C>T (p.Asp144=)
|
rs766247910
|
0.00001
|
NM_145200.5(CABP4):c.541+14C>T
|
rs886048561
|
0.00001
|
NM_198506.5(LRIT3):c.*1516C>A
|
rs886058987
|
0.00001
|
NM_198506.5(LRIT3):c.*82C>T
|
rs942045086
|
0.00001
|
NM_198506.5(LRIT3):c.1018G>A (p.Val340Met)
|
rs746795751
|
0.00001
|
NM_198506.5(LRIT3):c.1157T>G (p.Leu386Arg)
|
rs151283521
|
0.00001
|
NM_198506.5(LRIT3):c.1314C>A (p.Asn438Lys)
|
rs886058986
|
0.00001
|
NM_198506.5(LRIT3):c.1677G>A (p.Val559=)
|
rs762638752
|
0.00001
|
NM_198506.5(LRIT3):c.1913G>C (p.Ser638Thr)
|
rs550500577
|
0.00001
|
NM_198506.5(LRIT3):c.1966C>G (p.Leu656Val)
|
rs1195746556
|
0.00001
|
NM_198506.5(LRIT3):c.660C>T (p.Asp220=)
|
rs761469951
|
0.00001
|
NM_198506.5(LRIT3):c.667A>G (p.Ile223Val)
|
rs145327749
|
0.00001
|
NM_198506.5(LRIT3):c.966C>T (p.Asp322=)
|
rs141753583
|
0.00001
|
NC_000002.12:g.98393909_98399093del
|
|
|
NC_000008.11:g.86688947_86688948ins[MF045863.1:g.1_36978]
|
|
|
NC_000008.11:g.86711345_86711346ins[MF045864.2:g.1_98770]
|
|
|
NC_000015.10:g.(?_31001061)_(31161273_?)del
|
|
|
NC_000023.11:g.(154153459_154153462)_(154154925_154154928)del
|
|
|
NG_016453.2:g.66830_103274del
|
|
|
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs)
|
rs61749670
|
|
NM_000180.4(GUCY2D):c.247C>T (p.Arg83Cys)
|
|
|
NM_000180.4(GUCY2D):c.2618C>G (p.Pro873Arg)
|
rs1567961680
|
|
NM_000180.4(GUCY2D):c.2731C>T (p.Leu911Phe)
|
|
|
NM_000180.4(GUCY2D):c.49T>C (p.Cys17Arg)
|
rs1008930073
|
|
NM_000283.4(PDE6B):c.*115T>A
|
rs1194338211
|
|
NM_000283.4(PDE6B):c.*390T>C
|
rs886059549
|
|
NM_000283.4(PDE6B):c.*561C>T
|
rs886059551
|
|
NM_000283.4(PDE6B):c.*592A>G
|
rs886059552
|
|
NM_000283.4(PDE6B):c.*626T>C
|
rs886059553
|
|
NM_000283.4(PDE6B):c.1026C>T (p.Ser342=)
|
rs754298712
|
|
NM_000283.4(PDE6B):c.110A>G (p.Glu37Gly)
|
rs1208473466
|
|
NM_000283.4(PDE6B):c.117G>T (p.Gly39=)
|
rs140538420
|
|
NM_000283.4(PDE6B):c.1239G>A (p.Gln413=)
|
rs1736347354
|
|
NM_000283.4(PDE6B):c.1592G>A (p.Arg531Gln)
|
rs144664551
|
|
NM_000283.4(PDE6B):c.1804C>A (p.Arg602Ser)
|
rs754298498
|
|
NM_000283.4(PDE6B):c.1811C>G (p.Thr604Ser)
|
rs752738349
|
|
NM_000283.4(PDE6B):c.1896T>C (p.Phe632=)
|
rs1737323722
|
|
NM_000283.4(PDE6B):c.2073C>T (p.Asp691=)
|
rs886059544
|
|
NM_000283.4(PDE6B):c.2129+9G>C
|
rs753943492
|
|
NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn)
|
rs150639487
|
|
NM_000283.4(PDE6B):c.2174C>T (p.Pro725Leu)
|
rs886059546
|
|
NM_000283.4(PDE6B):c.2193+1G>A
|
rs727504075
|
|
NM_000283.4(PDE6B):c.2269-7C>T
|
rs1268705787
|
|
NM_000283.4(PDE6B):c.2353-13C>T
|
rs369466418
|
|
NM_000283.4(PDE6B):c.298C>T (p.Arg100Cys)
|
rs537263212
|
|
NM_000283.4(PDE6B):c.483C>T (p.Ser161=)
|
rs886059526
|
|
NM_000283.4(PDE6B):c.711+12C>T
|
rs886059527
|
|
NM_000283.4(PDE6B):c.772C>A (p.His258Asn)
|
rs121918582
|
|
NM_000283.4(PDE6B):c.853-9T>C
|
rs886059542
|
|
NM_000283.4(PDE6B):c.986T>C (p.Val329Ala)
|
rs1736021671
|
|
NM_000350.3(ABCA4):c.3259G>T (p.Glu1087Ter)
|
rs61751398
|
|
NM_000350.3(ABCA4):c.6226A>G (p.Lys2076Glu)
|
rs1553186509
|
|
NM_000390.4(CHM):c.75_77del (p.Ala26del)
|
rs1555968874
|
|
NM_000513.2(OPN1MW):c.-112A>C
|
rs724159983
|
|
NM_000513.2(OPN1MW):c.282C>A (p.Asn94Lys)
|
rs104894915
|
|
NM_000513.2(OPN1MW):c.529T>C (p.Trp177Arg)
|
rs267606927
|
|
NM_000513.2(OPN1MW):c.607T>C (p.Cys203Arg)
|
rs104894914
|
|
NM_000513.2(OPN1MW):c.807_948del (p.Met269fs)
|
rs2148787747
|
|
NM_000513.2(OPN1MW):c.989G>A (p.Arg330Gln)
|
rs104894916
|
|
NM_000539.3(RHO):c.*1099G>A
|
rs3733148
|
|
NM_000539.3(RHO):c.*1454G>A
|
rs2084812090
|
|
NM_000539.3(RHO):c.*224C>T
|
rs886057970
|
|
NM_000539.3(RHO):c.*26C>T
|
rs773347364
|
|
NM_000539.3(RHO):c.*276C>T
|
rs759322778
|
|
NM_000539.3(RHO):c.*406G>C
|
rs2084804479
|
|
NM_000539.3(RHO):c.*40C>T
|
rs886057968
|
|
NM_000539.3(RHO):c.*43C>A
|
rs2071093
|
|
NM_000539.3(RHO):c.*542G>A
|
rs369408405
|
|
NM_000539.3(RHO):c.*573C>T
|
rs2084806235
|
|
NM_000539.3(RHO):c.*633G>A
|
rs886057972
|
|
NM_000539.3(RHO):c.*645G>C
|
rs886057973
|
|
NM_000539.3(RHO):c.*670A>C
|
rs2084806843
|
|
NM_000539.3(RHO):c.*679A>G
|
rs1359424642
|
|
NM_000539.3(RHO):c.*815G>T
|
rs2084807511
|
|
NM_000539.3(RHO):c.*838A>T
|
rs886057974
|
|
NM_000539.3(RHO):c.*887G>C
|
rs886057975
|
|
NM_000539.3(RHO):c.*959A>G
|
rs368910470
|
|
NM_000539.3(RHO):c.*970C>T
|
rs886057976
|
|
NM_000539.3(RHO):c.-24G>T
|
rs771188148
|
|
NM_000539.3(RHO):c.194_205del (p.His65_Leu68del)
|
|
|
NM_000539.3(RHO):c.269G>A (p.Gly90Asp)
|
rs104893790
|
|
NM_000539.3(RHO):c.281C>T (p.Thr94Ile)
|
rs104893796
|
|
NM_000539.3(RHO):c.328T>C (p.Cys110Arg)
|
rs1578278438
|
|
NM_000539.3(RHO):c.362G>T (p.Gly121Val)
|
rs2084774644
|
|
NM_000539.3(RHO):c.586C>A (p.Pro196Thr)
|
rs765931092
|
|
NM_000539.3(RHO):c.614T>G (p.Ile205Ser)
|
rs886057967
|
|
NM_000539.3(RHO):c.647T>A (p.Met216Lys)
|
rs984572250
|
|
NM_000539.3(RHO):c.68C>A (p.Pro23His)
|
rs104893768
|
|
NM_000539.3(RHO):c.696+12G>A
|
rs55915536
|
|
NM_000539.3(RHO):c.704C>A (p.Ala235Asp)
|
rs1390478420
|
|
NM_000539.3(RHO):c.806C>A (p.Ala269Asp)
|
rs2084789658
|
|
NM_000539.3(RHO):c.847T>C (p.Phe283Leu)
|
rs2084790979
|
|
NM_000539.3(RHO):c.875C>A (p.Ala292Glu)
|
rs104893789
|
|
NM_000539.3(RHO):c.948C>T (p.Cys316=)
|
rs754809715
|
|
NM_000541.5(SAG):c.648+1G>C
|
rs1700648887
|
|
NM_000541.5(SAG):c.874C>T (p.Arg292Ter)
|
rs397514681
|
|
NM_000843.4(GRM6):c.118_132del (p.Thr40_Leu44del)
|
rs1237461749
|
|
NM_000843.4(GRM6):c.1336C>T (p.Arg446Ter)
|
rs764476239
|
|
NM_000843.4(GRM6):c.2003T>C (p.Leu668Pro)
|
rs777168556
|
|
NM_000843.4(GRM6):c.2054C>G (p.Ser685Trp)
|
rs144657366
|
|
NM_000843.4(GRM6):c.2066del (p.Pro689fs)
|
rs755967391
|
|
NM_000843.4(GRM6):c.2213_2219del (p.Ala738fs)
|
rs770025079
|
|
NM_000843.4(GRM6):c.340C>T (p.Gln114Ter)
|
|
|
NM_000843.4(GRM6):c.527C>T (p.Ser176Phe)
|
rs1581898677
|
|
NM_000843.4(GRM6):c.577del (p.Val193fs)
|
rs781463257
|
|
NM_000843.4(GRM6):c.722-1G>T
|
rs766594761
|
|
NM_000843.4(GRM6):c.727G>T (p.Val243Phe)
|
rs17078894
|
|
NM_000843.4(GRM6):c.727dup
|
rs281865186
|
|
NM_000843.4(GRM6):c.824G>A (p.Gly275Asp)
|
|
|
NM_001004334.4(GPR179):c.*17G>C
|
rs770311999
|
|
NM_001004334.4(GPR179):c.*388A>C
|
rs1018088318
|
|
NM_001004334.4(GPR179):c.*516T>C
|
rs886052893
|
|
NM_001004334.4(GPR179):c.*640G>T
|
rs2037280359
|
|
NM_001004334.4(GPR179):c.1294C>A (p.Pro432Thr)
|
rs772895584
|
|
NM_001004334.4(GPR179):c.134G>T (p.Gly45Val)
|
rs886052899
|
|
NM_001004334.4(GPR179):c.1388T>A (p.Ile463Asn)
|
rs886052897
|
|
NM_001004334.4(GPR179):c.1477C>A (p.His493Asn)
|
rs114716738
|
|
NM_001004334.4(GPR179):c.1667G>A (p.Trp556Ter)
|
|
|
NM_001004334.4(GPR179):c.1727del (p.Tyr576fs)
|
rs1567725425
|
|
NM_001004334.4(GPR179):c.1784+1G>A
|
rs773126191
|
|
NM_001004334.4(GPR179):c.1784+9G>A
|
rs774545222
|
|
NM_001004334.4(GPR179):c.1807C>T (p.His603Tyr)
|
rs281875234
|
|
NM_001004334.4(GPR179):c.187del (p.Leu63fs)
|
rs794726686
|
|
NM_001004334.4(GPR179):c.1916G>A (p.Arg639Gln)
|
rs62073369
|
|
NM_001004334.4(GPR179):c.2002T>C (p.Trp668Arg)
|
rs2037374851
|
|
NM_001004334.4(GPR179):c.2413G>C (p.Glu805Gln)
|
rs199619898
|
|
NM_001004334.4(GPR179):c.2419G>A (p.Val807Met)
|
rs2037354573
|
|
NM_001004334.4(GPR179):c.2556C>T (p.Leu852=)
|
rs777488974
|
|
NM_001004334.4(GPR179):c.2706_2707dup (p.Pro903fs)
|
rs1200683561
|
|
NM_001004334.4(GPR179):c.278del (p.Pro93fs)
|
rs794726685
|
|
NM_001004334.4(GPR179):c.278dup (p.Ser94fs)
|
rs794726685
|
|
NM_001004334.4(GPR179):c.3092G>A (p.Arg1031Lys)
|
|
|
NM_001004334.4(GPR179):c.3125C>G (p.Ala1042Gly)
|
rs886052896
|
|
NM_001004334.4(GPR179):c.3364_3365del (p.Ser1122fs)
|
rs1205982736
|
|
NM_001004334.4(GPR179):c.3451G>A (p.Glu1151Lys)
|
rs1170813264
|
|
NM_001004334.4(GPR179):c.3460C>T (p.Gln1154Ter)
|
rs757044884
|
|
NM_001004334.4(GPR179):c.3474C>A (p.Asn1158Lys)
|
rs755044433
|
|
NM_001004334.4(GPR179):c.3518G>C (p.Ser1173Thr)
|
rs565610587
|
|
NM_001004334.4(GPR179):c.3699= (p.Leu1233=)
|
rs35803744
|
|
NM_001004334.4(GPR179):c.3699G>T (p.Leu1233=)
|
rs35803744
|
|
NM_001004334.4(GPR179):c.3819C>G (p.Ala1273=)
|
rs201777145
|
|
NM_001004334.4(GPR179):c.3846C>T (p.Asp1282=)
|
rs2037332515
|
|
NM_001004334.4(GPR179):c.3876G>A (p.Glu1292=)
|
rs1699475935
|
|
NM_001004334.4(GPR179):c.3919C>T (p.Arg1307Trp)
|
rs765046358
|
|
NM_001004334.4(GPR179):c.4073T>G (p.Val1358Gly)
|
rs752363198
|
|
NM_001004334.4(GPR179):c.4081C>G (p.Pro1361Ala)
|
rs1471292987
|
|
NM_001004334.4(GPR179):c.4172A>C (p.Asp1391Ala)
|
rs2144259445
|
|
NM_001004334.4(GPR179):c.4888G>A (p.Glu1630Lys)
|
rs149998444
|
|
NM_001004334.4(GPR179):c.4888G>C (p.Glu1630Gln)
|
rs149998444
|
|
NM_001004334.4(GPR179):c.5119T>C (p.Trp1707Arg)
|
rs769294419
|
|
NM_001004334.4(GPR179):c.5386T>G (p.Cys1796Gly)
|
rs369190209
|
|
NM_001004334.4(GPR179):c.5769T>C (p.Gly1923=)
|
rs2037304044
|
|
NM_001004334.4(GPR179):c.6012T>A (p.Asp2004Glu)
|
rs886052895
|
|
NM_001004334.4(GPR179):c.6169G>A (p.Val2057Met)
|
rs762962801
|
|
NM_001004334.4(GPR179):c.6494C>A (p.Thr2165Lys)
|
rs114844749
|
|
NM_001004334.4(GPR179):c.779_780dup (p.Pro262fs)
|
rs1567728372
|
|
NM_001004334.4(GPR179):c.799_803delinsTGATCTAC (p.Gln267_Val268delinsTer)
|
rs886043488
|
|
NM_001004334.4(GPR179):c.984del (p.Ser329fs)
|
rs770066665
|
|
NM_001024630.4(RUNX2):c.*3160G>T
|
rs1200428
|
|
NM_001034853.2(RPGR):c.633del (p.Tyr212fs)
|
rs1555966753
|
|
NM_001252024.2(TRPM1):c.*240G>T
|
rs138295515
|
|
NM_001252024.2(TRPM1):c.*250T>C
|
rs2031763037
|
|
NM_001252024.2(TRPM1):c.*549T>C
|
rs112061822
|
|
NM_001252024.2(TRPM1):c.*651C>T
|
rs184781100
|
|
NM_001252024.2(TRPM1):c.*65A>G
|
rs2031769261
|
|
NM_001252024.2(TRPM1):c.1089+3_1089+6del
|
rs772011426
|
|
NM_001252024.2(TRPM1):c.108C>A (p.Asn36Lys)
|
rs886051034
|
|
NM_001252024.2(TRPM1):c.1265C>T (p.Pro422Leu)
|
rs2033921068
|
|
NM_001252024.2(TRPM1):c.1305_1324del (p.Glu436fs)
|
|
|
NM_001252024.2(TRPM1):c.1460T>A (p.Met487Lys)
|
rs1596017653
|
|
NM_001252024.2(TRPM1):c.1525A>G (p.Met509Val)
|
rs2033876591
|
|
NM_001252024.2(TRPM1):c.1623+1G>A
|
rs2033825467
|
|
NM_001252024.2(TRPM1):c.2013C>A (p.Tyr671Ter)
|
rs1195734631
|
|
NM_001252024.2(TRPM1):c.2149G>A (p.Ala717Thr)
|
rs138944426
|
|
NM_001252024.2(TRPM1):c.2149G>C (p.Ala717Pro)
|
rs138944426
|
|
NM_001252024.2(TRPM1):c.2268C>A (p.Thr756=)
|
rs756489745
|
|
NM_001252024.2(TRPM1):c.2440-13C>A
|
rs751355642
|
|
NM_001252024.2(TRPM1):c.254del (p.Gly85fs)
|
rs1567032774
|
|
NM_001252024.2(TRPM1):c.2572A>G (p.Ile858Val)
|
rs886051030
|
|
NM_001252024.2(TRPM1):c.2653A>C (p.Ile885Leu)
|
rs201650867
|
|
NM_001252024.2(TRPM1):c.2711C>A (p.Ser904Ter)
|
rs786205113
|
|
NM_001252024.2(TRPM1):c.282T>G (p.Tyr94Ter)
|
rs372529012
|
|
NM_001252024.2(TRPM1):c.2843A>G (p.Tyr948Cys)
|
rs1356433853
|
|
NM_001252024.2(TRPM1):c.2860T>G (p.Cys954Gly)
|
|
|
NM_001252024.2(TRPM1):c.3104_3105dup (p.Val1036fs)
|
rs754705612
|
|
NM_001252024.2(TRPM1):c.3155G>A (p.Cys1052Tyr)
|
rs1555418784
|
|
NM_001252024.2(TRPM1):c.3171T>A (p.Tyr1057Ter)
|
rs267607140
|
|
NM_001252024.2(TRPM1):c.3174T>A (p.Asp1058Glu)
|
rs748046539
|
|
NM_001252024.2(TRPM1):c.3187C>T (p.Arg1063Trp)
|
rs184390324
|
|
NM_001252024.2(TRPM1):c.330G>T (p.Met110Ile)
|
rs886051033
|
|
NM_001252024.2(TRPM1):c.3496+2T>C
|
rs773030662
|
|
NM_001252024.2(TRPM1):c.3571del (p.Glu1191fs)
|
rs778390089
|
|
NM_001252024.2(TRPM1):c.3590del (p.Gln1197fs)
|
rs1566996007
|
|
NM_001252024.2(TRPM1):c.3666dup (p.Glu1223Ter)
|
rs1566982738
|
|
NM_001252024.2(TRPM1):c.380G>A (p.Gly127Glu)
|
rs1555424849
|
|
NM_001252024.2(TRPM1):c.3907G>A (p.Glu1303Lys)
|
rs117855013
|
|
NM_001252024.2(TRPM1):c.4286T>C (p.Ile1429Thr)
|
rs886051029
|
|
NM_001252024.2(TRPM1):c.4330C>G (p.Arg1444Gly)
|
rs3784587
|
|
NM_001252024.2(TRPM1):c.4330C>T (p.Arg1444Cys)
|
rs3784587
|
|
NM_001252024.2(TRPM1):c.4452G>A (p.Thr1484=)
|
rs16956430
|
|
NM_001252024.2(TRPM1):c.4694T>C (p.Leu1565Ser)
|
rs2031784574
|
|
NM_001252024.2(TRPM1):c.4793_4796dup (p.Ser1600fs)
|
rs2031777349
|
|
NM_001252024.2(TRPM1):c.482del (p.Gly161fs)
|
rs1226505973
|
|
NM_001252024.2(TRPM1):c.4842del (p.Lys1615fs)
|
rs2141098146
|
|
NM_001252024.2(TRPM1):c.493+13C>T
|
rs372144508
|
|
NM_001252024.2(TRPM1):c.618+3_618+6del
|
rs781610444
|
|
NM_001252024.2(TRPM1):c.773T>C (p.Leu258Pro)
|
rs869312176
|
|
NM_001252024.2(TRPM1):c.832G>A (p.Gly278Arg)
|
rs1555424166
|
|
NM_001252024.2(TRPM1):c.846G>C (p.Val282=)
|
rs773186865
|
|
NM_001252024.2(TRPM1):c.946A>T (p.Lys316Ter)
|
rs1596029830
|
|
NM_001252024.2(TRPM1):c.970A>G (p.Ile324Val)
|
rs886051032
|
|
NM_001252024.2(TRPM1):c.97C>T (p.Gln33Ter)
|
rs267607141
|
|
NM_001256789.3(CACNA1F):c.1044del (p.Trp349fs)
|
|
|
NM_001256789.3(CACNA1F):c.1106G>A (p.Gly369Asp)
|
rs122456133
|
|
NM_001256789.3(CACNA1F):c.1118+1G>C
|
rs2065841382
|
|
NM_001256789.3(CACNA1F):c.1218del (p.Trp407fs)
|
rs1557110192
|
|
NM_001256789.3(CACNA1F):c.1234dup (p.Glu412fs)
|
|
|
NM_001256789.3(CACNA1F):c.1305_1306insT (p.Arg436Ter)
|
rs1557110046
|
|
NM_001256789.3(CACNA1F):c.1433_1463+7del
|
rs1557109912
|
|
NM_001256789.3(CACNA1F):c.149_156del (p.Arg50fs)
|
|
|
NM_001256789.3(CACNA1F):c.1505_1509del (p.Arg502fs)
|
rs1557109796
|
|
NM_001256789.3(CACNA1F):c.1535G>A (p.Arg512His)
|
rs146847449
|
|
NM_001256789.3(CACNA1F):c.1579_1599del (p.Leu527_Leu533del)
|
rs2147917984
|
|
NM_001256789.3(CACNA1F):c.1686G>A (p.Thr562=)
|
rs782527288
|
|
NM_001256789.3(CACNA1F):c.1723del (p.Ser575fs)
|
rs2065808928
|
|
NM_001256789.3(CACNA1F):c.187_193dup (p.Ala65fs)
|
rs1602658505
|
|
NM_001256789.3(CACNA1F):c.1933A>T (p.Ile645Phe)
|
rs1344295491
|
|
NM_001256789.3(CACNA1F):c.1982T>G (p.Leu661Arg)
|
rs2065788651
|
|
NM_001256789.3(CACNA1F):c.2007del (p.Lys670fs)
|
|
|
NM_001256789.3(CACNA1F):c.2225T>G (p.Phe742Cys)
|
rs1602644716
|
|
NM_001256789.3(CACNA1F):c.245G>A (p.Arg82Gln)
|
rs2065880189
|
|
NM_001256789.3(CACNA1F):c.2470G>T (p.Glu824Ter)
|
rs1602641426
|
|
NM_001256789.3(CACNA1F):c.2624T>A (p.Val875Glu)
|
rs2065752304
|
|
NM_001256789.3(CACNA1F):c.2650C>T (p.Arg884Ter)
|
rs122456135
|
|
NM_001256789.3(CACNA1F):c.2733+1G>A
|
rs1557108147
|
|
NM_001256789.3(CACNA1F):c.2772del (p.Cys925fs)
|
rs1602639607
|
|
NM_001256789.3(CACNA1F):c.2872C>T (p.Arg958Ter)
|
rs122456134
|
|
NM_001256789.3(CACNA1F):c.2928+5C>T
|
rs2147908085
|
|
NM_001256789.3(CACNA1F):c.3019G>A (p.Gly1007Arg)
|
rs1249437161
|
|
NM_001256789.3(CACNA1F):c.3037-30G>A
|
rs2065733290
|
|
NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs)
|
rs80359870
|
|
NM_001256789.3(CACNA1F):c.3153G>A (p.Trp1051Ter)
|
rs2065717735
|
|
NM_001256789.3(CACNA1F):c.3180T>G (p.Asn1060Lys)
|
rs1557107417
|
|
NM_001256789.3(CACNA1F):c.3182T>A (p.Val1061Asp)
|
rs2065717075
|
|
NM_001256789.3(CACNA1F):c.3308_3309del (p.Ser1103fs)
|
rs1557107192
|
|
NM_001256789.3(CACNA1F):c.3458C>A (p.Ala1153Asp)
|
|
|
NM_001256789.3(CACNA1F):c.3481del (p.Arg1161fs)
|
|
|
NM_001256789.3(CACNA1F):c.3921G>A (p.Trp1307Ter)
|
rs1602630650
|
|
NM_001256789.3(CACNA1F):c.4054AAC[2] (p.Asn1354del)
|
rs2065661046
|
|
NM_001256789.3(CACNA1F):c.4261-9G>A
|
rs1602628429
|
|
NM_001256789.3(CACNA1F):c.4439C>T (p.Pro1480Leu)
|
rs1557106008
|
|
NM_001256789.3(CACNA1F):c.4454G>A (p.Gly1485Glu)
|
rs1602627593
|
|
NM_001256789.3(CACNA1F):c.4471C>T (p.Arg1491Ter)
|
rs782581701
|
|
NM_001256789.3(CACNA1F):c.4548del (p.Phe1517fs)
|
rs2147895629
|
|
NM_001256789.3(CACNA1F):c.4561C>G (p.Arg1521Gly)
|
rs1335615080
|
|
NM_001256789.3(CACNA1F):c.465_466insGT (p.Ser156fs)
|
|
|
NM_001256789.3(CACNA1F):c.4827del (p.Leu1610fs)
|
|
|
NM_001256789.3(CACNA1F):c.5372C>T (p.Ser1791Phe)
|
rs1602621312
|
|
NM_001256789.3(CACNA1F):c.694A>T (p.Lys232Ter)
|
rs1057518829
|
|
NM_001256789.3(CACNA1F):c.784C>T (p.Arg262Ter)
|
rs1557110988
|
|
NM_001256789.3(CACNA1F):c.818-820del
|
rs2065854138
|
|
NM_001256789.3(CACNA1F):c.946TTC[2] (p.Phe318del)
|
rs1557110499
|
|
NM_001298.2(CNGA3):c.-381A>G
|
rs1691615064
|
|
NM_001298.3(CNGA3):c.*1209del
|
rs886056494
|
|
NM_001298.3(CNGA3):c.*269A>G
|
rs1692950011
|
|
NM_001298.3(CNGA3):c.*418T>C
|
rs886056491
|
|
NM_001298.3(CNGA3):c.*751T>C
|
rs1692960843
|
|
NM_001298.3(CNGA3):c.*765G>A
|
rs1692961283
|
|
NM_001298.3(CNGA3):c.*904C>T
|
rs867630128
|
|
NM_001298.3(CNGA3):c.-37-1G>C
|
rs1553447991
|
|
NM_001298.3(CNGA3):c.-43G>A
|
rs886056488
|
|
NM_001298.3(CNGA3):c.1004G>A (p.Trp335Ter)
|
rs2104246464
|
|
NM_001298.3(CNGA3):c.102-16A>G
|
rs2279859
|
|
NM_001298.3(CNGA3):c.1076C>T (p.Ser359Phe)
|
rs2104246690
|
|
NM_001298.3(CNGA3):c.1085C>T (p.Thr362Ile)
|
rs1574390811
|
|
NM_001298.3(CNGA3):c.1100G>T (p.Gly367Val)
|
|
|
NM_001298.3(CNGA3):c.1115C>T (p.Pro372Leu)
|
rs2104246962
|
|
NM_001298.3(CNGA3):c.1116del (p.Pro372_Val373insTer)
|
rs958089715
|
|
NM_001298.3(CNGA3):c.1134T>C (p.Tyr378=)
|
rs1692911635
|
|
NM_001298.3(CNGA3):c.1168_1169del (p.Leu390fs)
|
|
|
NM_001298.3(CNGA3):c.1217T>C (p.Met406Thr)
|
rs1553450734
|
|
NM_001298.3(CNGA3):c.1235_1236del (p.Glu412fs)
|
rs1692914478
|
|
NM_001298.3(CNGA3):c.1254T>G (p.Asp418Glu)
|
rs1162745859
|
|
NM_001298.3(CNGA3):c.1255T>C (p.Ser419Pro)
|
rs371558158
|
|
NM_001298.3(CNGA3):c.1268A>C (p.Tyr423Ser)
|
rs2104247562
|
|
NM_001298.3(CNGA3):c.1273C>T (p.Gln425Ter)
|
rs571419754
|
|
NM_001298.3(CNGA3):c.1280G>T (p.Arg427Leu)
|
rs771172885
|
|
NM_001298.3(CNGA3):c.1286T>C (p.Val429Ala)
|
rs1692916541
|
|
NM_001298.3(CNGA3):c.1294del (p.Asp432fs)
|
rs1574391103
|
|
NM_001298.3(CNGA3):c.130_151dup (p.Ala51fs)
|
rs1558811557
|
|
NM_001298.3(CNGA3):c.1310_1312delinsAG (p.Val437fs)
|
rs1558820471
|
|
NM_001298.3(CNGA3):c.1320del (p.Trp440fs)
|
rs1553450762
|
|
NM_001298.3(CNGA3):c.1366del (p.Val456fs)
|
rs2104248068
|
|
NM_001298.3(CNGA3):c.1379del (p.Leu460fs)
|
rs2104248132
|
|
NM_001298.3(CNGA3):c.1395_1412del (p.Lys465_Ile470del)
|
rs1692921014
|
|
NM_001298.3(CNGA3):c.1443dup (p.Ile482fs)
|
|
|
NM_001298.3(CNGA3):c.1451A>C (p.Gln484Pro)
|
|
|
NM_001298.3(CNGA3):c.1466G>T (p.Gly489Val)
|
rs2104248683
|
|
NM_001298.3(CNGA3):c.1486C>T (p.Leu496=)
|
rs747895951
|
|
NM_001298.3(CNGA3):c.1519del (p.Asp507fs)
|
rs745592705
|
|
NM_001298.3(CNGA3):c.1573G>A (p.Gly525Ser)
|
rs786205532
|
|
NM_001298.3(CNGA3):c.1579C>A (p.Leu527Met)
|
rs375928335
|
|
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu)
|
rs104893617
|
|
NM_001298.3(CNGA3):c.1645G>T (p.Glu549Ter)
|
rs1282613813
|
|
NM_001298.3(CNGA3):c.1653_1654delinsGC (p.Ser551_Ile552delinsArgLeu)
|
|
|
NM_001298.3(CNGA3):c.1682_1683insACGCG (p.Asn562fs)
|
rs2104249738
|
|
NM_001298.3(CNGA3):c.1708A>G (p.Ser570Gly)
|
rs2104249895
|
|
NM_001298.3(CNGA3):c.1719C>G (p.Tyr573Ter)
|
|
|
NM_001298.3(CNGA3):c.1736T>G (p.Leu579Arg)
|
rs2104250058
|
|
NM_001298.3(CNGA3):c.1749del (p.Leu584fs)
|
rs2104250161
|
|
NM_001298.3(CNGA3):c.1771T>C (p.Tyr591His)
|
rs2104250253
|
|
NM_001298.3(CNGA3):c.1775C>T (p.Pro592Leu)
|
rs1374130283
|
|
NM_001298.3(CNGA3):c.181G>A (p.Gly61Arg)
|
|
|
NM_001298.3(CNGA3):c.1845G>T (p.Glu615Asp)
|
rs886056489
|
|
NM_001298.3(CNGA3):c.1889T>C (p.Val630Ala)
|
rs2104250774
|
|
NM_001298.3(CNGA3):c.215+151T>C
|
rs937725
|
|
NM_001298.3(CNGA3):c.332C>A (p.Ser111Tyr)
|
|
|
NM_001298.3(CNGA3):c.332_333delinsAA (p.Ser111Ter)
|
rs1692508715
|
|
NM_001298.3(CNGA3):c.340G>T (p.Glu114Ter)
|
rs1692509021
|
|
NM_001298.3(CNGA3):c.384_387del (p.Asp128fs)
|
rs2104205990
|
|
NM_001298.3(CNGA3):c.387del (p.Arg131fs)
|
rs2104206033
|
|
NM_001298.3(CNGA3):c.396-2_398dup
|
rs2104213507
|
|
NM_001298.3(CNGA3):c.450-15T>G
|
rs2104229048
|
|
NM_001298.3(CNGA3):c.464del (p.Lys155fs)
|
rs2104229154
|
|
NM_001298.3(CNGA3):c.479T>G (p.Val160Gly)
|
rs201713771
|
|
NM_001298.3(CNGA3):c.499del (p.Leu167fs)
|
rs1692739030
|
|
NM_001298.3(CNGA3):c.544A>G (p.Asn182Asp)
|
rs2104229884
|
|
NM_001298.3(CNGA3):c.545A>G (p.Asn182Ser)
|
rs2104229897
|
|
NM_001298.3(CNGA3):c.553C>G (p.Leu185Val)
|
rs779715055
|
|
NM_001298.3(CNGA3):c.560T>C (p.Ile187Thr)
|
rs1574385431
|
|
NM_001298.3(CNGA3):c.566G>A (p.Arg189Lys)
|
rs2104229996
|
|
NM_001298.3(CNGA3):c.580G>T (p.Glu194Ter)
|
|
|
NM_001298.3(CNGA3):c.584T>C (p.Leu195Pro)
|
rs1692797695
|
|
NM_001298.3(CNGA3):c.589T>C (p.Ser197Pro)
|
rs1330263985
|
|
NM_001298.3(CNGA3):c.591del (p.Glu198fs)
|
rs2104235623
|
|
NM_001298.3(CNGA3):c.667C>G (p.Arg223Gly)
|
rs138958917
|
|
NM_001298.3(CNGA3):c.66C>T (p.Asp22=)
|
rs2104175460
|
|
NM_001298.3(CNGA3):c.670A>G (p.Thr224Ala)
|
rs2104236067
|
|
NM_001298.3(CNGA3):c.674-1G>A
|
rs949254623
|
|
NM_001298.3(CNGA3):c.704A>T (p.Asp235Val)
|
rs1692898861
|
|
NM_001298.3(CNGA3):c.715C>T (p.Leu239=)
|
rs768456172
|
|
NM_001298.3(CNGA3):c.742C>T (p.Gln248Ter)
|
rs2104245397
|
|
NM_001298.3(CNGA3):c.743A>G (p.Gln248Arg)
|
rs2104245407
|
|
NM_001298.3(CNGA3):c.772C>G (p.Pro258Ala)
|
rs1477725731
|
|
NM_001298.3(CNGA3):c.777C>A (p.Thr259=)
|
rs138921037
|
|
NM_001298.3(CNGA3):c.778G>C (p.Asp260His)
|
rs374258471
|
|
NM_001298.3(CNGA3):c.778dup (p.Asp260fs)
|
rs756172609
|
|
NM_001298.3(CNGA3):c.77del (p.Asn26fs)
|
rs2104175554
|
|
NM_001298.3(CNGA3):c.796G>A (p.Val266Met)
|
rs536335712
|
|
NM_001298.3(CNGA3):c.811C>A (p.Pro271Thr)
|
rs149802213
|
|
NM_001298.3(CNGA3):c.827A>G (p.Asn276Ser)
|
rs199474697
|
|
NM_001298.3(CNGA3):c.851del (p.Leu284fs)
|
rs1377331975
|
|
NM_001298.3(CNGA3):c.872C>G (p.Thr291Arg)
|
rs104893616
|
|
NM_001298.3(CNGA3):c.902_903delinsAA (p.Phe301Ter)
|
rs1692904914
|
|
NM_001298.3(CNGA3):c.904A>G (p.Arg302Gly)
|
rs1574390600
|
|
NM_001298.3(CNGA3):c.934ATC[2] (p.Ile314del)
|
rs777878533
|
|
NM_001298.3(CNGA3):c.955_963delinsACCAATGAAATGGAAAT (p.Cys319fs)
|
rs2104246318
|
|
NM_001298.3(CNGA3):c.985G>T (p.Gly329Cys)
|
rs1558820134
|
|
NM_001298.3(CNGA3):c.992G>A (p.Gly331Glu)
|
rs1311451829
|
|
NM_001377295.2(GNAT2):c.*102C>A
|
rs572222112
|
|
NM_001377295.2(GNAT2):c.-53-35C>G
|
rs886045029
|
|
NM_001377295.2(GNAT2):c.235C>T (p.Gln79Ter)
|
rs121434585
|
|
NM_001377295.2(GNAT2):c.257G>A (p.Arg86Gln)
|
rs140250745
|
|
NM_001377295.2(GNAT2):c.281A>C (p.Asp94Ala)
|
|
|
NM_001377295.2(GNAT2):c.285_291delinsCTGTAT (p.Ala96fs)
|
rs1557920291
|
|
NM_001377295.2(GNAT2):c.303+365_461+974del
|
|
|
NM_001377295.2(GNAT2):c.303+365_461+974dup
|
|
|
NM_001377295.2(GNAT2):c.461+24G>A
|
rs397515384
|
|
NM_001377295.2(GNAT2):c.503dup (p.Pro169_Ser170insTer)
|
rs1557918911
|
|
NM_001377295.2(GNAT2):c.591-2A>C
|
rs1557918638
|
|
NM_001377295.2(GNAT2):c.593T>A (p.Met198Lys)
|
rs1557918635
|
|
NM_001377295.2(GNAT2):c.605G>A (p.Gly202Glu)
|
rs1570562309
|
|
NM_001377295.2(GNAT2):c.620A>T (p.Glu207Val)
|
rs1557918619
|
|
NM_001377295.2(GNAT2):c.623G>C (p.Arg208Thr)
|
rs995152260
|
|
NM_001377295.2(GNAT2):c.720+2T>C
|
rs1557918544
|
|
NM_001377295.2(GNAT2):c.803_806dup (p.Lys270fs)
|
rs1557917899
|
|
NM_001377295.2(GNAT2):c.808AAG[1] (p.Lys271del)
|
rs1268228697
|
|
NM_001377295.2(GNAT2):c.842_843insTCAG (p.His282fs)
|
rs2101121827
|
|
NM_001377295.2(GNAT2):c.845A>C (p.His282Pro)
|
rs779967692
|
|
NM_001377295.2(GNAT2):c.886T>C (p.Tyr296His)
|
rs757147586
|
|
NM_001377295.2(GNAT2):c.943G>A (p.Asp315Asn)
|
rs950519744
|
|
NM_001377295.2(GNAT2):c.955del (p.Ile319fs)
|
rs1557917535
|
|
NM_001378477.3(NYX):c.*157C>G
|
rs1057515884
|
|
NM_001378477.3(NYX):c.*16del
|
rs762960396
|
|
NM_001378477.3(NYX):c.*72T>C
|
rs1057515883
|
|
NM_001378477.3(NYX):c.*734_*735dup
|
rs201620180
|
|
NM_001378477.3(NYX):c.1003T>G (p.Cys335Gly)
|
rs1602181006
|
|
NM_001378477.3(NYX):c.1054_1055del (p.Val352fs)
|
rs1602181043
|
|
NM_001378477.3(NYX):c.1246_1247dup (p.Ala417fs)
|
rs1602181253
|
|
NM_001378477.3(NYX):c.1293dup (p.Leu432fs)
|
rs2147026677
|
|
NM_001378477.3(NYX):c.148C>T (p.Arg50Trp)
|
rs1287556040
|
|
NM_001378477.3(NYX):c.22+5G>A
|
|
|
NM_001378477.3(NYX):c.23-1_23delinsTT
|
rs1555967031
|
|
NM_001378477.3(NYX):c.266G>C (p.Arg89Pro)
|
rs104894910
|
|
NM_001378477.3(NYX):c.287T>C (p.Ile96Thr)
|
rs104894911
|
|
NM_001378477.3(NYX):c.335T>A (p.Leu112Gln)
|
rs1602180352
|
|
NM_001378477.3(NYX):c.371_372dup (p.Thr125fs)
|
rs2147025534
|
|
NM_001378477.3(NYX):c.419_420delinsAA (p.Cys140Ter)
|
|
|
NM_001378477.3(NYX):c.467T>C (p.Leu156Pro)
|
rs1245924306
|
|
NM_001378477.3(NYX):c.481G>C (p.Ala161Pro)
|
rs1602180478
|
|
NM_001378477.3(NYX):c.604_612dup (p.Arg202_Arg204dup)
|
rs2064376509
|
|
NM_001378477.3(NYX):c.645C>G (p.Ala215=)
|
rs924692905
|
|
NM_001378477.3(NYX):c.70_93del (p.Arg24_Ala31del)
|
rs281865194
|
|
NM_001378477.3(NYX):c.722C>T (p.Pro241Leu)
|
rs763017414
|
|
NM_001378477.3(NYX):c.782T>C (p.Leu261Pro)
|
rs1602180791
|
|
NM_001378477.3(NYX):c.90C>A (p.Cys30Ter)
|
rs62637021
|
|
NM_001378477.3(NYX):c.944_971dup (p.Phe327fs)
|
|
|
NM_001378477.3(NYX):c.977TCTTCC[1] (p.326LF[1])
|
rs1555967281
|
|
NM_001708.2(OPN1SW):c.640T>C (p.Ser214Pro)
|
rs104894032
|
|
NM_001822.7(CHN1):c.667G>A (p.Ala223Thr)
|
rs1558939623
|
|
NM_002075.4(GNB3):c.1017G>A (p.Trp339Ter)
|
rs879253773
|
|
NM_002075.4(GNB3):c.170_172del (p.Lys57del)
|
rs879253774
|
|
NM_002900.3(RBP3):c.826TTC[2] (p.Phe278del)
|
rs782604129
|
|
NM_002929.3(GRK1):c.1069+3317_1195-753del
|
|
|
NM_002929.3(GRK1):c.1084G>A (p.Glu362Lys)
|
rs1441327018
|
|
NM_002929.3(GRK1):c.1129G>C (p.Ala377Pro)
|
rs2049935254
|
|
NM_002929.3(GRK1):c.1172C>A (p.Pro391His)
|
rs570621429
|
|
NM_002929.3(GRK1):c.1312C>T (p.Arg438Cys)
|
rs765070399
|
|
NM_002929.3(GRK1):c.1384C>T (p.Gln462Ter)
|
rs1594580431
|
|
NM_002929.3(GRK1):c.1411_1412del (p.Pro471fs)
|
rs2049992612
|
|
NM_002929.3(GRK1):c.142_145del (p.Glu48fs)
|
rs748680704
|
|
NM_002929.3(GRK1):c.1549_1559del (p.Pro517fs)
|
rs2049994399
|
|
NM_002929.3(GRK1):c.1610_1613del (p.Asp537fs)
|
rs756235051
|
|
NM_002929.3(GRK1):c.470T>C (p.Leu157Pro)
|
rs2049829612
|
|
NM_002929.3(GRK1):c.508_516del (p.Tyr170_Leu172del)
|
|
|
NM_002929.3(GRK1):c.55C>T (p.Arg19Ter)
|
rs370713047
|
|
NM_002929.3(GRK1):c.595G>C (p.Gly199Arg)
|
rs2049830881
|
|
NM_002929.3(GRK1):c.614C>A (p.Ser205Ter)
|
rs761138317
|
|
NM_002929.3(GRK1):c.827+625_883del
|
|
|
NM_002929.3(GRK1):c.923T>C (p.Leu308Pro)
|
rs753470112
|
|
NM_002929.3(GRK1):c.971del (p.Leu324fs)
|
rs2049858551
|
|
NM_004727.3(SLC24A1):c.*1016G>A
|
rs1319803654
|
|
NM_004727.3(SLC24A1):c.*1099A>T
|
rs886051354
|
|
NM_004727.3(SLC24A1):c.*1346C>A
|
rs777291212
|
|
NM_004727.3(SLC24A1):c.*1883A>G
|
rs2075670262
|
|
NM_004727.3(SLC24A1):c.*1959A>G
|
rs1596361110
|
|
NM_004727.3(SLC24A1):c.*2146T>G
|
rs77255459
|
|
NM_004727.3(SLC24A1):c.*349C>T
|
rs184758393
|
|
NM_004727.3(SLC24A1):c.*858C>T
|
rs2075630737
|
|
NM_004727.3(SLC24A1):c.*986G>T
|
rs2075635357
|
|
NM_004727.3(SLC24A1):c.1271C>A (p.Pro424His)
|
rs919442711
|
|
NM_004727.3(SLC24A1):c.1613_1614del (p.Phe538fs)
|
|
|
NM_004727.3(SLC24A1):c.1691_1693del (p.Phe564del)
|
rs1555403793
|
|
NM_004727.3(SLC24A1):c.1886G>A (p.Ser629Asn)
|
rs2074500484
|
|
NM_004727.3(SLC24A1):c.1976C>A (p.Ser659Ter)
|
rs367858805
|
|
NM_004727.3(SLC24A1):c.2053+6C>T
|
rs886051350
|
|
NM_004727.3(SLC24A1):c.2106C>T (p.Ala702=)
|
rs2075238543
|
|
NM_004727.3(SLC24A1):c.222G>T (p.Met74Ile)
|
rs370527618
|
|
NM_004727.3(SLC24A1):c.2516G>T (p.Gly839Val)
|
rs2075464806
|
|
NM_004727.3(SLC24A1):c.2574T>G (p.Asp858Glu)
|
rs2075467314
|
|
NM_004727.3(SLC24A1):c.2661A>G (p.Glu887=)
|
rs886051352
|
|
NM_004727.3(SLC24A1):c.2838G>A (p.Met946Ile)
|
rs760348512
|
|
NM_004727.3(SLC24A1):c.2968A>C (p.Ser990Arg)
|
rs1555407654
|
|
NM_004727.3(SLC24A1):c.2T>C (p.Met1Thr)
|
rs886051347
|
|
NM_004727.3(SLC24A1):c.3050+3G>C
|
rs758702980
|
|
NM_004727.3(SLC24A1):c.3072T>C (p.Leu1024=)
|
rs139757342
|
|
NM_004727.3(SLC24A1):c.3291_3294del (p.Val1099fs)
|
rs766780281
|
|
NM_004727.3(SLC24A1):c.425_428del (p.Glu142fs)
|
rs886051349
|
|
NM_004727.3(SLC24A1):c.639G>T (p.Ala213=)
|
rs781442429
|
|
NM_006204.4(PDE6C):c.*64A>C
|
rs1781280550
|
|
NM_006204.4(PDE6C):c.-7C>A
|
rs2058397201
|
|
NM_006204.4(PDE6C):c.1004+1G>A
|
|
|
NM_006204.4(PDE6C):c.1004C>A (p.Pro335Gln)
|
rs777483878
|
|
NM_006204.4(PDE6C):c.1269+1G>A
|
rs1554889905
|
|
NM_006204.4(PDE6C):c.1308T>G (p.Thr436=)
|
rs2058524276
|
|
NM_006204.4(PDE6C):c.1336G>T (p.Glu446Ter)
|
|
|
NM_006204.4(PDE6C):c.1413+3A>T
|
|
|
NM_006204.4(PDE6C):c.1589T>C (p.Phe530Ser)
|
rs1564801134
|
|
NM_006204.4(PDE6C):c.1595T>G (p.Ile532Arg)
|
rs766703340
|
|
NM_006204.4(PDE6C):c.1629G>T (p.Glu543Asp)
|
rs2058552494
|
|
NM_006204.4(PDE6C):c.1630-4T>C
|
rs368331638
|
|
NM_006204.4(PDE6C):c.1637C>A (p.Thr546Asn)
|
rs143394832
|
|
NM_006204.4(PDE6C):c.1711G>C (p.Gly571Arg)
|
|
|
NM_006204.4(PDE6C):c.1847+3_1847+6del
|
rs1554890513
|
|
NM_006204.4(PDE6C):c.1958T>C (p.Leu653Pro)
|
rs863224908
|
|
NM_006204.4(PDE6C):c.2018A>G (p.Asp673Gly)
|
|
|
NM_006204.4(PDE6C):c.2036+2T>G
|
rs1589704707
|
|
NM_006204.4(PDE6C):c.2053del (p.Gln685fs)
|
|
|
NM_006204.4(PDE6C):c.2141T>A (p.Ile714Asn)
|
rs1064797148
|
|
NM_006204.4(PDE6C):c.2192G>A (p.Trp731Ter)
|
rs1589705946
|
|
NM_006204.4(PDE6C):c.2208+13_2208+17del
|
rs886047483
|
|
NM_006204.4(PDE6C):c.2242C>A (p.Gln748Lys)
|
|
|
NM_006204.4(PDE6C):c.2246G>A (p.Gly749Glu)
|
rs1554892155
|
|
NM_006204.4(PDE6C):c.2254G>A (p.Glu752Lys)
|
rs2133878975
|
|
NM_006204.4(PDE6C):c.2269C>A (p.Gln757Lys)
|
rs2058668455
|
|
NM_006204.4(PDE6C):c.2283+1G>T
|
rs760343056
|
|
NM_006204.4(PDE6C):c.2288T>C (p.Met763Thr)
|
rs1554892197
|
|
NM_006204.4(PDE6C):c.2294A>G (p.Asp765Gly)
|
rs1554892199
|
|
NM_006204.4(PDE6C):c.2367+1_2367+5del
|
rs796051871
|
|
NM_006204.4(PDE6C):c.2367G>A (p.Lys789=)
|
rs2058671471
|
|
NM_006204.4(PDE6C):c.2386A>G (p.Lys796Glu)
|
rs768171384
|
|
NM_006204.4(PDE6C):c.2424C>G (p.Asn808Lys)
|
rs912743767
|
|
NM_006204.4(PDE6C):c.2466G>A (p.Lys822=)
|
rs79487435
|
|
NM_006204.4(PDE6C):c.2466G>C (p.Lys822Asn)
|
rs79487435
|
|
NM_006204.4(PDE6C):c.2481A>C (p.Glu827Asp)
|
rs779769374
|
|
NM_006204.4(PDE6C):c.252G>A (p.Leu84=)
|
rs1131978
|
|
NM_006204.4(PDE6C):c.252G>T (p.Leu84=)
|
rs1131978
|
|
NM_006204.4(PDE6C):c.304C>T (p.Arg102Trp)
|
rs375795507
|
|
NM_006204.4(PDE6C):c.435G>A (p.Trp145Ter)
|
rs1589690942
|
|
NM_006204.4(PDE6C):c.480+1del
|
|
|
NM_006204.4(PDE6C):c.480G>T (p.Lys160Asn)
|
rs765296989
|
|
NM_006204.4(PDE6C):c.497del (p.Asp166fs)
|
rs1554888848
|
|
NM_006204.4(PDE6C):c.503T>A (p.Met168Lys)
|
rs200506932
|
|
NM_006204.4(PDE6C):c.595A>G (p.Lys199Glu)
|
rs1554888858
|
|
NM_006204.4(PDE6C):c.623A>G (p.Gln208Arg)
|
rs886047481
|
|
NM_006204.4(PDE6C):c.631G>T (p.Glu211Ter)
|
rs1554888861
|
|
NM_006204.4(PDE6C):c.669C>T (p.Ile223=)
|
rs2058442754
|
|
NM_006204.4(PDE6C):c.78del (p.Lys27fs)
|
rs1554888353
|
|
NM_006204.4(PDE6C):c.857del (p.Lys286fs)
|
rs1554888978
|
|
NM_006204.4(PDE6C):c.864+1G>A
|
rs1023522305
|
|
NM_006204.4(PDE6C):c.939+9A>G
|
rs886047482
|
|
NM_006205.3(PDE6H):c.*134G>A
|
rs886049110
|
|
NM_006205.3(PDE6H):c.*77C>G
|
rs886049109
|
|
NM_006205.3(PDE6H):c.232G>T (p.Ala78Ser)
|
rs199740819
|
|
NM_006205.3(PDE6H):c.59G>A (p.Arg20His)
|
rs775561506
|
|
NM_007348.3(ATF6):c.160dup (p.Glu54Glyfs)
|
rs1553227755
|
|
NM_007348.3(ATF6):c.355dup
|
rs869320751
|
|
NM_007348.3:c.355_356dupG
|
|
|
NM_007348.4(ATF6):c.1110dup (p.Val371fs)
|
rs797045174
|
|
NM_007348.4(ATF6):c.1187+5G>C
|
rs761129859
|
|
NM_007348.4(ATF6):c.1190_1191insTTTTT (p.Met397fs)
|
rs1571184566
|
|
NM_007348.4(ATF6):c.1191G>T (p.Met397Ile)
|
rs1285628089
|
|
NM_007348.4(ATF6):c.1533+1G>C
|
rs797045172
|
|
NM_007348.4(ATF6):c.1699T>A (p.Tyr567Asn)
|
rs796065053
|
|
NM_007348.4(ATF6):c.1720-2A>T
|
|
|
NM_007348.4(ATF6):c.1784del (p.Leu595fs)
|
rs1558022158
|
|
NM_007348.4(ATF6):c.353del (p.Pro118fs)
|
rs797045171
|
|
NM_007348.4(ATF6):c.3G>T (p.Met1Ile)
|
rs915211840
|
|
NM_007348.4(ATF6):c.417dup (p.Asn140Ter)
|
rs765383904
|
|
NM_007348.4(ATF6):c.484+1G>T
|
rs764142241
|
|
NM_007348.4(ATF6):c.511del (p.Ile171fs)
|
rs1571134523
|
|
NM_007348.4(ATF6):c.709C>T (p.Gln237Ter)
|
rs1571143590
|
|
NM_007348.4(ATF6):c.797dup (p.Pro266_Asn267insTer)
|
rs797045173
|
|
NM_007348.4(ATF6):c.82+5G>T
|
rs797045170
|
|
NM_007348.4(ATF6):c.854A>G (p.Lys285Arg)
|
rs1685168329
|
|
NM_007348.4(ATF6):c.949C>T (p.Arg317Ter)
|
rs146640460
|
|
NM_019098.4(CNGB3):c.(1578+1_1579-1)_(*1_?)del
|
|
|
NM_019098.4(CNGB3):c.(211+1_212-1)_(338+1_339-1)del
|
|
|
NM_019098.4(CNGB3):c.(338+1_339-1)_(*1_?)del
|
|
|
NM_019098.4(CNGB3):c.(?_-1)_(129+1_130-1)del
|
|
|
NM_019098.4(CNGB3):c.*1654C>T
|
rs796676165
|
|
NM_019098.4(CNGB3):c.*1705A>C
|
rs982329960
|
|
NM_019098.4(CNGB3):c.*1733T>C
|
rs970889903
|
|
NM_019098.4(CNGB3):c.-36T>G
|
rs7812496
|
|
NM_019098.4(CNGB3):c.1430_1431delinsC (p.Lys477fs)
|
rs1554610279
|
|
NM_019098.4(CNGB3):c.1534delinsGT (p.Ile512fs)
|
rs1554609956
|
|
NM_019098.4(CNGB3):c.393_394delinsTCCTGGTGA (p.Gln131fs)
|
rs1554614423
|
|
NM_019098.4(CNGB3):c.702_706delinsGTTTTT (p.Cys234fs)
|
rs1554614024
|
|
NM_019098.4(CNGB3):c.706delinsTT (p.Ile236fs)
|
rs1554614022
|
|
NM_019098.4(CNGB3):c.852+4013_903+1698dup
|
|
|
NM_019098.4(CNGB3):c.873delinsCAAAC (p.Arg291fs)
|
rs1554612806
|
|
NM_019098.4(CNGB3):c.904-2824_1782-8208delins[KY923049.1:g.1_466]
|
|
|
NM_019098.5(CNGB3):c.*1093C>T
|
rs886063156
|
|
NM_019098.5(CNGB3):c.*1143T>C
|
rs1821625317
|
|
NM_019098.5(CNGB3):c.*1303G>A
|
rs17683284
|
|
NM_019098.5(CNGB3):c.*272G>T
|
rs1821641223
|
|
NM_019098.5(CNGB3):c.*291T>A
|
rs1821640855
|
|
NM_019098.5(CNGB3):c.*379T>G
|
rs188787381
|
|
NM_019098.5(CNGB3):c.*435G>A
|
rs964834349
|
|
NM_019098.5(CNGB3):c.*735A>G
|
rs73269601
|
|
NM_019098.5(CNGB3):c.*800C>G
|
rs1028298142
|
|
NM_019098.5(CNGB3):c.*915G>C
|
rs189446254
|
|
NM_019098.5(CNGB3):c.-1G>A
|
rs1825379377
|
|
NM_019098.5(CNGB3):c.1005dup (p.Glu336Ter)
|
rs1554611860
|
|
NM_019098.5(CNGB3):c.1013A>G (p.Asn338Ser)
|
rs548817727
|
|
NM_019098.5(CNGB3):c.1019_1020del (p.His340fs)
|
|
|
NM_019098.5(CNGB3):c.1025_1026del (p.Glu342fs)
|
|
|
NM_019098.5(CNGB3):c.1052del (p.Tyr351fs)
|
|
|
NM_019098.5(CNGB3):c.1055+1G>C
|
rs1823261605
|
|
NM_019098.5(CNGB3):c.1056-2A>G
|
rs1385347376
|
|
NM_019098.5(CNGB3):c.1056-3C>G
|
rs1554611763
|
|
NM_019098.5(CNGB3):c.105_114del (p.Gln36fs)
|
rs1586047969
|
|
NM_019098.5(CNGB3):c.1107T>A (p.Cys369Ter)
|
|
|
NM_019098.5(CNGB3):c.1119G>A (p.Trp373Ter)
|
rs786204762
|
|
NM_019098.5(CNGB3):c.112C>T (p.Gln38Ter)
|
rs786204498
|
|
NM_019098.5(CNGB3):c.1131T>G (p.Tyr377Ter)
|
|
|
NM_019098.5(CNGB3):c.1155G>A (p.Trp385Ter)
|
|
|
NM_019098.5(CNGB3):c.1178+5G>T
|
rs1823236444
|
|
NM_019098.5(CNGB3):c.1178+9T>C
|
rs549858104
|
|
NM_019098.5(CNGB3):c.1179-2A>T
|
rs1057517167
|
|
NM_019098.5(CNGB3):c.1190_1192del (p.Cys397del)
|
rs765574129
|
|
NM_019098.5(CNGB3):c.1193A>G (p.Tyr398Cys)
|
rs564759960
|
|
NM_019098.5(CNGB3):c.1194T>G (p.Tyr398Ter)
|
rs775038513
|
|
NM_019098.5(CNGB3):c.11C>A (p.Ser4Ter)
|
rs376711003
|
|
NM_019098.5(CNGB3):c.1214T>C (p.Leu405Ser)
|
rs1178528306
|
|
NM_019098.5(CNGB3):c.1243C>T (p.Gln415Ter)
|
rs1554610668
|
|
NM_019098.5(CNGB3):c.1260del (p.Ile420fs)
|
rs1057516866
|
|
NM_019098.5(CNGB3):c.1285del (p.Ser429fs)
|
rs776896038
|
|
NM_019098.5(CNGB3):c.1285dup (p.Ser429fs)
|
rs776896038
|
|
NM_019098.5(CNGB3):c.129+2T>C
|
rs1554619498
|
|
NM_019098.5(CNGB3):c.1299_1300del (p.Phe434fs)
|
rs1554610655
|
|
NM_019098.5(CNGB3):c.130-1G>A
|
rs1554619303
|
|
NM_019098.5(CNGB3):c.130-1G>T
|
rs1554619303
|
|
NM_019098.5(CNGB3):c.1304C>T (p.Ser435Phe)
|
rs121918344
|
|
NM_019098.5(CNGB3):c.1347A>T (p.Thr449=)
|
rs768959472
|
|
NM_019098.5(CNGB3):c.1366del (p.Arg456fs)
|
rs1057516878
|
|
NM_019098.5(CNGB3):c.1378G>A (p.Asp460Asn)
|
rs148572872
|
|
NM_019098.5(CNGB3):c.1397T>A (p.Met466Lys)
|
rs35010099
|
|
NM_019098.5(CNGB3):c.1405del (p.Tyr469fs)
|
|
|
NM_019098.5(CNGB3):c.1426C>T (p.Gln476Ter)
|
rs1554610284
|
|
NM_019098.5(CNGB3):c.1460G>A (p.Trp487Ter)
|
rs999921351
|
|
NM_019098.5(CNGB3):c.1480+1G>A
|
rs1057516825
|
|
NM_019098.5(CNGB3):c.1481-2A>C
|
rs1554609978
|
|
NM_019098.5(CNGB3):c.1493del (p.Leu498fs)
|
rs773381712
|
|
NM_019098.5(CNGB3):c.1496_1497del (p.Leu499fs)
|
|
|
NM_019098.5(CNGB3):c.1516del (p.Val506fs)
|
rs768735888
|
|
NM_019098.5(CNGB3):c.1566_1569dup (p.Leu524fs)
|
rs1554609946
|
|
NM_019098.5(CNGB3):c.1578+1G>T
|
rs372006750
|
|
NM_019098.5(CNGB3):c.1578+2C>G
|
rs1554609943
|
|
NM_019098.5(CNGB3):c.1579-1G>A
|
rs1057516504
|
|
NM_019098.5(CNGB3):c.1579-2A>G
|
rs772725807
|
|
NM_019098.5(CNGB3):c.1619T>A (p.Leu540Ter)
|
|
|
NM_019098.5(CNGB3):c.1635T>A (p.Tyr545Ter)
|
rs1554608319
|
|
NM_019098.5(CNGB3):c.163dup (p.Thr55fs)
|
rs1057516782
|
|
NM_019098.5(CNGB3):c.1663-2137C>T
|
rs998703203
|
|
NM_019098.5(CNGB3):c.1663-2660_1781+5516del
|
|
|
NM_019098.5(CNGB3):c.1663-5T>G
|
rs964530890
|
|
NM_019098.5(CNGB3):c.1673G>T (p.Gly558Val)
|
rs1262707163
|
|
NM_019098.5(CNGB3):c.1700G>A (p.Gly567Glu)
|
rs267602029
|
|
NM_019098.5(CNGB3):c.1714C>G (p.Leu572Val)
|
rs771889150
|
|
NM_019098.5(CNGB3):c.1751T>C (p.Leu584Pro)
|
rs1554607553
|
|
NM_019098.5(CNGB3):c.1773A>G (p.Gly591=)
|
rs1822365271
|
|
NM_019098.5(CNGB3):c.1774dup (p.Glu592fs)
|
rs1554607548
|
|
NM_019098.5(CNGB3):c.1781+1G>A
|
rs1375507464
|
|
NM_019098.5(CNGB3):c.1781+1G>C
|
rs1375507464
|
|
NM_019098.5(CNGB3):c.1781+1G>T
|
rs1375507464
|
|
NM_019098.5(CNGB3):c.1781+1del
|
rs1554607546
|
|
NM_019098.5(CNGB3):c.1782-2A>C
|
rs1554604851
|
|
NM_019098.5(CNGB3):c.1782-3723_2103+739del
|
|
|
NM_019098.5(CNGB3):c.1783C>T (p.Leu595Phe)
|
rs1554604849
|
|
NM_019098.5(CNGB3):c.1815del (p.Ala606fs)
|
rs1362472371
|
|
NM_019098.5(CNGB3):c.1823T>A (p.Val608Glu)
|
rs1554604833
|
|
NM_019098.5(CNGB3):c.1849_1850del (p.Leu617fs)
|
|
|
NM_019098.5(CNGB3):c.1883T>C (p.Leu628Pro)
|
|
|
NM_019098.5(CNGB3):c.1908del (p.Ile637fs)
|
rs1057516571
|
|
NM_019098.5(CNGB3):c.190del (p.Glu64fs)
|
rs1554619292
|
|
NM_019098.5(CNGB3):c.1928+2T>C
|
rs1057517454
|
|
NM_019098.5(CNGB3):c.1929-2A>G
|
rs1057517388
|
|
NM_019098.5(CNGB3):c.1937del (p.Leu645_Leu646insTer)
|
rs745557293
|
|
NM_019098.5(CNGB3):c.1956C>T (p.Thr652=)
|
rs767430685
|
|
NM_019098.5(CNGB3):c.2008G>T (p.Glu670Ter)
|
rs1554604775
|
|
NM_019098.5(CNGB3):c.2085del (p.Lys695fs)
|
rs1585942791
|
|
NM_019098.5(CNGB3):c.208C>T (p.Gln70Ter)
|
rs1052078370
|
|
NM_019098.5(CNGB3):c.2101C>T (p.Gln701Ter)
|
rs1554604769
|
|
NM_019098.5(CNGB3):c.2103+1G>A
|
rs1554604767
|
|
NM_019098.5(CNGB3):c.2107A>G (p.Lys703Glu)
|
rs748785588
|
|
NM_019098.5(CNGB3):c.212-2527_338+2854del
|
|
|
NM_019098.5(CNGB3):c.212-6del
|
rs745969238
|
|
NM_019098.5(CNGB3):c.2124A>G (p.Gly708=)
|
rs769689524
|
|
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[1] (p.720QKENEDK[1])
|
rs746549330
|
|
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[3] (p.720QKENEDK[3])
|
rs746549330
|
|
NM_019098.5(CNGB3):c.220_221del (p.Ser74fs)
|
rs1057517434
|
|
NM_019098.5(CNGB3):c.2217T>C (p.Asp739=)
|
rs1425570775
|
|
NM_019098.5(CNGB3):c.2221del (p.Asp741fs)
|
rs1554604552
|
|
NM_019098.5(CNGB3):c.2301_2304dup (p.Ser769fs)
|
rs199570140
|
|
NM_019098.5(CNGB3):c.2313_2315del (p.Arg772del)
|
rs758914061
|
|
NM_019098.5(CNGB3):c.2328del (p.Arg777fs)
|
rs1585941011
|
|
NM_019098.5(CNGB3):c.2359del (p.Ser787fs)
|
rs1554604525
|
|
NM_019098.5(CNGB3):c.2419G>T (p.Ala807Ser)
|
rs375288585
|
|
NM_019098.5(CNGB3):c.2423A>C (p.Lys808Thr)
|
rs1821645749
|
|
NM_019098.5(CNGB3):c.257del (p.Pro86fs)
|
rs1554618420
|
|
NM_019098.5(CNGB3):c.265C>T (p.Gln89Ter)
|
rs1554618417
|
|
NM_019098.5(CNGB3):c.269del (p.Asn90fs)
|
|
|
NM_019098.5(CNGB3):c.281_284del (p.Pro94fs)
|
rs1554618413
|
|
NM_019098.5(CNGB3):c.29dup (p.Val11fs)
|
rs1442286151
|
|
NM_019098.5(CNGB3):c.301C>T (p.Gln101Ter)
|
rs1554618404
|
|
NM_019098.5(CNGB3):c.31dup (p.Val11fs)
|
rs1554619509
|
|
NM_019098.5(CNGB3):c.331C>G (p.Pro111Ala)
|
rs778184687
|
|
NM_019098.5(CNGB3):c.339-10dup
|
rs200792506
|
|
NM_019098.5(CNGB3):c.353C>T (p.Pro118Leu)
|
rs755429797
|
|
NM_019098.5(CNGB3):c.387T>G (p.Asp129Glu)
|
rs758681401
|
|
NM_019098.5(CNGB3):c.391C>T (p.Gln131Ter)
|
rs786204492
|
|
NM_019098.5(CNGB3):c.3G>A (p.Met1Ile)
|
rs1554619513
|
|
NM_019098.5(CNGB3):c.412del (p.Arg138fs)
|
rs1057516791
|
|
NM_019098.5(CNGB3):c.442_446delinsGAAAAT (p.Lys148fs)
|
rs2131618938
|
|
NM_019098.5(CNGB3):c.445_446insT (p.Lys149fs)
|
rs1823849258
|
|
NM_019098.5(CNGB3):c.445_447delinsT (p.Lys149fs)
|
rs1554614402
|
|
NM_019098.5(CNGB3):c.446_447insT (p.Lys149fs)
|
rs748993388
|
|
NM_019098.5(CNGB3):c.473C>T (p.Pro158Leu)
|
rs1456633980
|
|
NM_019098.5(CNGB3):c.494-11del
|
rs36008065
|
|
NM_019098.5(CNGB3):c.494-11dup
|
rs36008065
|
|
NM_019098.5(CNGB3):c.494-2A>T
|
rs1554614157
|
|
NM_019098.5(CNGB3):c.494-8dup
|
rs763273522
|
|
NM_019098.5(CNGB3):c.504G>T (p.Thr168=)
|
rs751547136
|
|
NM_019098.5(CNGB3):c.556_559del (p.Arg186fs)
|
rs1057517053
|
|
NM_019098.5(CNGB3):c.567del (p.Trp189fs)
|
rs1057517052
|
|
NM_019098.5(CNGB3):c.589_590del (p.Leu197fs)
|
rs1554614131
|
|
NM_019098.5(CNGB3):c.595del (p.Glu199fs)
|
rs1823778696
|
|
NM_019098.5(CNGB3):c.59_61delinsCTGTCTCTTGTTCTCAT (p.Asn20fs)
|
|
|
NM_019098.5(CNGB3):c.643+2T>C
|
rs1391492794
|
|
NM_019098.5(CNGB3):c.643G>C (p.Asp215His)
|
rs1174949911
|
|
NM_019098.5(CNGB3):c.682dup (p.Ala228fs)
|
rs1554614038
|
|
NM_019098.5(CNGB3):c.701G>A (p.Cys234Tyr)
|
rs766852205
|
|
NM_019098.5(CNGB3):c.702T>A (p.Cys234Ter)
|
rs6471482
|
|
NM_019098.5(CNGB3):c.715C>A (p.Arg239Ser)
|
rs200019416
|
|
NM_019098.5(CNGB3):c.74G>A (p.Arg25His)
|
rs141098074
|
|
NM_019098.5(CNGB3):c.791_794del (p.Tyr264fs)
|
rs1554613998
|
|
NM_019098.5(CNGB3):c.803T>C (p.Met268Thr)
|
rs1440942177
|
|
NM_019098.5(CNGB3):c.806T>C (p.Leu269Pro)
|
rs1189928623
|
|
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs)
|
rs775796581
|
|
NM_019098.5(CNGB3):c.819del (p.Arg274fs)
|
rs1586003680
|
|
NM_019098.5(CNGB3):c.852+1G>T
|
rs1201521544
|
|
NM_019098.5(CNGB3):c.852+4010_903+1699dup
|
|
|
NM_019098.5(CNGB3):c.874A>T (p.Lys292Ter)
|
|
|
NM_019098.5(CNGB3):c.882C>G (p.Tyr294Ter)
|
rs1554612805
|
|
NM_019098.5(CNGB3):c.886_896delinsT (p.Thr296fs)
|
rs886063161
|
|
NM_019098.5(CNGB3):c.893_897del (p.Thr298fs)
|
|
|
NM_019098.5(CNGB3):c.904-2A>T
|
rs1554612159
|
|
NM_019098.5(CNGB3):c.910G>T (p.Val304Phe)
|
rs1454679758
|
|
NM_019098.5(CNGB3):c.926C>T (p.Pro309Leu)
|
rs1554612145
|
|
NM_019098.5(CNGB3):c.95dup (p.His32fs)
|
rs1554619500
|
|
NM_019098.5(CNGB3):c.969del (p.Phe323fs)
|
|
|
NM_019098.5(CNGB3):c.989A>G (p.Lys330Arg)
|
rs1823317372
|
|
NM_019098.5(CNGB3):c.991-3T>G
|
rs773372519
|
|
NM_019098.5(CNGB3):c.[442A>G;446_447insT]
|
|
|
NM_020061.6(OPN1LW):c.1013G>A (p.Gly338Glu)
|
rs104894913
|
|
NM_020061.6(OPN1LW):c.269G>A (p.Trp90Ter)
|
rs2067071714
|
|
NM_020061.6(OPN1LW):c.511G>A (p.Val171Met)
|
rs5986963
|
|
NM_020061.6(OPN1LW):c.513G>T (p.Val171=)
|
rs5986964
|
|
NM_020061.6(OPN1LW):c.607T>C (p.Cys203Arg)
|
rs121434621
|
|
NM_020061.6(OPN1LW):c.739C>T (p.Arg247Ter)
|
rs104894912
|
|
NM_020061.6(OPN1LW):c.764_765del (p.Glu255fs)
|
|
|
NM_020061.6(OPN1LW):c.843G>T (p.Trp281Cys)
|
|
|
NM_022567.2(NYX):c.559_560delinsAA (p.Ala187Lys)
|
rs62637027
|
|
NM_025136.4(OPA3):c.206A>C (p.Lys69Thr)
|
rs760083523
|
|
NM_144499.3(GNAT1):c.*1205C>T
|
rs886058688
|
|
NM_144499.3(GNAT1):c.*128T>A
|
rs886058686
|
|
NM_144499.3(GNAT1):c.*1789A>G
|
rs187475557
|
|
NM_144499.3(GNAT1):c.*2128C>A
|
rs879841527
|
|
NM_144499.3(GNAT1):c.*806G>A
|
rs574271694
|
|
NM_144499.3(GNAT1):c.*834T>A
|
rs760716503
|
|
NM_144499.3(GNAT1):c.-2C>G
|
rs151191490
|
|
NM_144499.3(GNAT1):c.1015A>G (p.Ile339Val)
|
rs1699480267
|
|
NM_144499.3(GNAT1):c.113G>A (p.Gly38Asp)
|
rs104893740
|
|
NM_144499.3(GNAT1):c.149+8C>A
|
rs1699440055
|
|
NM_144499.3(GNAT1):c.259C>T (p.Leu87Phe)
|
rs1699444080
|
|
NM_144499.3(GNAT1):c.386A>G (p.Asp129Gly)
|
rs786205854
|
|
NM_144499.3(GNAT1):c.450-11G>T
|
rs2109139018
|
|
NM_144499.3(GNAT1):c.488A>C (p.Tyr163Ser)
|
rs1559746613
|
|
NM_144499.3(GNAT1):c.598C>G (p.Gln200Glu)
|
rs786205853
|
|
NM_144499.3(GNAT1):c.830C>T (p.Ala277Val)
|
rs886058685
|
|
NM_145200.3(CABP4):c.800_801delAG
|
rs786205249
|
|
NM_145200.5(CABP4):c.*1285G>A
|
rs373857371
|
|
NM_145200.5(CABP4):c.*1758G>A
|
rs545370587
|
|
NM_145200.5(CABP4):c.*1933C>A
|
rs886048573
|
|
NM_145200.5(CABP4):c.*2061C>T
|
rs1382811119
|
|
NM_145200.5(CABP4):c.*2065T>G
|
rs886048575
|
|
NM_145200.5(CABP4):c.*2331A>G
|
rs886048581
|
|
NM_145200.5(CABP4):c.*2357A>G
|
rs1461232183
|
|
NM_145200.5(CABP4):c.*262C>G
|
rs886048562
|
|
NM_145200.5(CABP4):c.*2886T>A
|
rs1865015075
|
|
NM_145200.5(CABP4):c.*2896T>C
|
rs1865015731
|
|
NM_145200.5(CABP4):c.*2905G>A
|
rs1865015969
|
|
NM_145200.5(CABP4):c.*324C>A
|
rs886048563
|
|
NM_145200.5(CABP4):c.*408C>T
|
rs376738871
|
|
NM_145200.5(CABP4):c.*62A>T
|
rs899658098
|
|
NM_145200.5(CABP4):c.154C>T (p.Arg52Ter)
|
rs745382789
|
|
NM_145200.5(CABP4):c.192C>T (p.Pro64=)
|
rs1790765
|
|
NM_145200.5(CABP4):c.194A>G (p.Glu65Gly)
|
rs886048559
|
|
NM_145200.5(CABP4):c.246C>A (p.Gly82=)
|
rs147329388
|
|
NM_145200.5(CABP4):c.281G>A (p.Arg94His)
|
rs143040005
|
|
NM_145200.5(CABP4):c.315C>T (p.His105=)
|
rs756570102
|
|
NM_145200.5(CABP4):c.415G>A (p.Glu139Lys)
|
rs769103245
|
|
NM_145200.5(CABP4):c.524A>G (p.Gln175Arg)
|
rs886048560
|
|
NM_145200.5(CABP4):c.541+8A>C
|
rs1638565
|
|
NM_145200.5(CABP4):c.619_633dup (p.Gly207_Leu211dup)
|
rs2135182933
|
|
NM_145200.5(CABP4):c.61_62delinsA (p.Pro21fs)
|
rs1590998813
|
|
NM_145200.5(CABP4):c.625C>T (p.Arg209Ter)
|
rs779788706
|
|
NM_145200.5(CABP4):c.65del (p.Pro22fs)
|
rs775166854
|
|
NM_145200.5(CABP4):c.773A>T (p.Asn258Ile)
|
rs773516968
|
|
NM_145200.5(CABP4):c.799+7C>T
|
rs370492431
|
|
NM_145200.5(CABP4):c.81_82insA (p.Pro28fs)
|
rs786205852
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NM_198506.5(LRIT3):c.*1070C>T
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rs1734844540
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NM_198506.5(LRIT3):c.*1155G>A
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rs1214674799
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NM_198506.5(LRIT3):c.*1182T>C
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rs1579384911
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NM_198506.5(LRIT3):c.*258G>A
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rs1734822393
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NM_198506.5(LRIT3):c.*303G>A
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rs556856274
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NM_198506.5(LRIT3):c.*959C>T
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rs954666885
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NM_198506.5(LRIT3):c.1109A>T (p.Gln370Leu)
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rs778238467
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NM_198506.5(LRIT3):c.1159T>G (p.Trp387Gly)
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rs140494004
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NM_198506.5(LRIT3):c.1538_1539del (p.Ser513fs)
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rs397509380
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NM_198506.5(LRIT3):c.15_16insAT (p.Cys6fs)
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rs1560588083
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NM_198506.5(LRIT3):c.696C>A (p.Cys232Ter)
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rs2125900955
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NM_198506.5(LRIT3):c.848C>T (p.Pro283Leu)
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rs886058985
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NM_198506.5(LRIT3):c.900A>G (p.Ile300Met)
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rs996641458
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NM_198506.5(LRIT3):c.99T>C (p.Asn33=)
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rs1054476083
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Single allele
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