ClinVar Miner

List of variants studied for blindness (disorder)

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1994
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HGVS dbSNP gnomAD frequency
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
NM_198506.5(LRIT3):c.*1070C>T rs1734844540
NM_198506.5(LRIT3):c.*1155G>A rs1214674799
NM_198506.5(LRIT3):c.*1182T>C rs1579384911
NM_198506.5(LRIT3):c.*258G>A rs1734822393
NM_198506.5(LRIT3):c.*303G>A rs556856274
NM_198506.5(LRIT3):c.*959C>T rs954666885
NM_198506.5(LRIT3):c.1109A>T (p.Gln370Leu) rs778238467
NM_198506.5(LRIT3):c.1159T>G (p.Trp387Gly) rs140494004
NM_198506.5(LRIT3):c.1538_1539del (p.Ser513fs) rs397509380
NM_198506.5(LRIT3):c.15_16insAT (p.Cys6fs) rs1560588083
NM_198506.5(LRIT3):c.696C>A (p.Cys232Ter) rs2125900955
NM_198506.5(LRIT3):c.848C>T (p.Pro283Leu) rs886058985
NM_198506.5(LRIT3):c.900A>G (p.Ile300Met) rs996641458
NM_198506.5(LRIT3):c.99T>C (p.Asn33=) rs1054476083
Single allele

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