ClinVar Miner

List of variants studied for color vision disorder

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 821
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HGVS dbSNP gnomAD frequency
NM_019098.4(CNGB3):c.*1881T>C rs990193 0.91428
NM_019098.5(CNGB3):c.702T>G (p.Cys234Trp) rs6471482 0.88912
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_007348.4(ATF6):c.1434-3T>A rs2257107 0.48568
NM_006204.4(PDE6C):c.1935+10C>A rs1409332 0.43098
NM_019098.5(CNGB3):c.852+55C>T rs3735967 0.39180
NM_006204.4(PDE6C):c.808T>A (p.Ser270Thr) rs701865 0.39072
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_019098.5(CNGB3):c.1481-145A>C rs13258590 0.33289
NM_001385125.1(OPN1SW):c.357A>C (p.Gly119=) rs1799922 0.29989
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_001298.3(CNGA3):c.72T>C (p.Asp24=) rs6727412 0.13838
NM_001377295.2(GNAT2):c.-32A>G rs2304355 0.12857
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_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_019098.5(CNGB3):c.2264A>G (p.Glu755Gly) rs3735972 0.08214
NM_019098.5(CNGB3):c.2214A>G (p.Glu738=) rs3735970 0.08211
NM_006204.4(PDE6C):c.282C>T (p.Asp94=) rs12781149 0.07060
NM_001298.3(CNGA3):c.*838T>C rs13395005 0.06587
NM_001298.2(CNGA3):c.-286C>T rs13408372 0.06490
NM_019098.5(CNGB3):c.919A>G (p.Ile307Val) rs13265557 0.05793
NM_019098.5(CNGB3):c.1356G>A (p.Gln452=) rs34839859 0.05572
NM_006204.4(PDE6C):c.1270-9C>T rs11187564 0.05345
NM_019098.5(CNGB3):c.1179-38T>C rs3735969 0.05147
NM_019098.5(CNGB3):c.608G>A (p.Arg203Gln) rs16916632 0.05057
NM_019098.5(CNGB3):c.1781+10A>T rs7000747 0.05032
NM_019098.5(CNGB3):c.211+13T>G rs66881636 0.04794
NM_001298.2(CNGA3):c.*1351T>G rs28376087 0.03691
NM_001298.3(CNGA3):c.*574C>T rs13429817 0.03505
NM_001377295.2(GNAT2):c.319C>A (p.Leu107Ile) rs3738766 0.02487
NM_006204.4(PDE6C):c.2096A>C (p.Glu699Ala) rs12261131 0.02167
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_019098.5(CNGB3):c.80A>G (p.Asn27Ser) rs35807406 0.01728
NM_006205.3(PDE6H):c.*301A>G rs77796036 0.01482
NM_001298.3(CNGA3):c.592G>A (p.Glu198Lys) rs2271041 0.01129
NM_019098.5(CNGB3):c.354G>T (p.Pro118=) rs75858066 0.01037
NM_019098.5(CNGB3):c.1397T>C (p.Met466Thr) rs35010099 0.00978
NM_001377295.2(GNAT2):c.-53-76A>G rs116819755 0.00917
NM_006205.3(PDE6H):c.-29G>C rs114575851 0.00911
NM_001298.3(CNGA3):c.458C>T (p.Thr153Met) rs34314205 0.00836
NM_006204.4(PDE6C):c.2208+14A>C rs61701022 0.00810
NM_019098.5(CNGB3):c.1626C>T (p.Ser542=) rs35903042 0.00786
NM_006204.4(PDE6C):c.*26A>G rs112520932 0.00703
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_019098.5(CNGB3):c.212-3T>C rs79126074 0.00635
NM_006204.4(PDE6C):c.724-15G>T rs141403797 0.00596
NM_006205.3(PDE6H):c.-73C>A rs188351941 0.00560
NM_006204.4(PDE6C):c.1936-9A>G rs182445749 0.00536
NM_001377295.2(GNAT2):c.933T>C (p.Asn311=) rs34723289 0.00516
NM_001298.3(CNGA3):c.215+11A>G rs199755395 0.00490
NM_001298.3(CNGA3):c.1569C>T (p.Asn523=) rs61752503 0.00467
NM_001298.3(CNGA3):c.143C>T (p.Pro48Leu) rs62156348 0.00451
NM_001377295.2(GNAT2):c.370G>A (p.Val124Met) rs41280330 0.00428
NM_001298.3(CNGA3):c.396-4G>A rs114951127 0.00360
NM_019098.5(CNGB3):c.1179-6T>C rs114127590 0.00352
NM_019098.5(CNGB3):c.1492T>A (p.Leu498Met) rs115246141 0.00350
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_001298.3(CNGA3):c.1626C>T (p.Ser542=) rs78583671 0.00275
NM_001377295.2(GNAT2):c.-53-78G>A rs532113128 0.00275
NM_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp) rs35365413 0.00248
NM_006204.4(PDE6C):c.2037-7T>C rs181296577 0.00234
NM_019098.5(CNGB3):c.1439G>A (p.Arg480Gln) rs77277189 0.00234
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_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_006204.4(PDE6C):c.2082G>A (p.Met694Ile) rs150112560 0.00179
NM_019098.5(CNGB3):c.*1459C>T rs192543896 0.00178
NM_006205.3(PDE6H):c.*319T>C rs3748304 0.00160
NM_001298.3(CNGA3):c.740C>T (p.Thr247Met) rs148616345 0.00158
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_006204.4(PDE6C):c.742A>G (p.Asn248Asp) rs140524715 0.00127
NM_019098.5(CNGB3):c.2159A>G (p.Gln720Arg) rs112573107 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_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_006204.4(PDE6C):c.2425A>C (p.Arg809=) rs1051926 0.00104
NM_001298.3(CNGA3):c.1767C>T (p.Thr589=) rs137950660 0.00102
NM_019098.5(CNGB3):c.*1183T>C rs78927155 0.00096
NM_019098.5(CNGB3):c.*125G>C rs186370374 0.00087
NM_019098.5(CNGB3):c.1534A>G (p.Ile512Val) rs146062161 0.00086
NM_001298.3(CNGA3):c.284C>T (p.Pro95Leu) rs114108462 0.00083
NM_006204.4(PDE6C):c.466C>T (p.Pro156Ser) rs145591492 0.00081
NM_001298.3(CNGA3):c.566+6C>T rs199558955 0.00080
NM_019098.5(CNGB3):c.913G>A (p.Ala305Thr) rs144637286 0.00070
NM_019098.5(CNGB3):c.1510A>G (p.Thr504Ala) rs140286824 0.00065
NM_019098.5(CNGB3):c.494-11T>C rs543970676 0.00062
NM_019098.5(CNGB3):c.319G>A (p.Gly107Arg) rs146688972 0.00057
NM_019098.5(CNGB3):c.1368C>T (p.Arg456=) rs141934736 0.00054
NM_019098.5(CNGB3):c.*51C>T rs189210452 0.00051
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys) rs147415641 0.00049
NM_001298.3(CNGA3):c.1863G>A (p.Ala621=) rs181911949 0.00044
NM_019098.5(CNGB3):c.2130G>A (p.Glu710=) rs149271453 0.00043
NM_019098.5(CNGB3):c.1383C>T (p.Asp461=) rs112847374 0.00039
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_001298.3(CNGA3):c.1279C>T (p.Arg427Cys) rs141386891 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_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_001298.3(CNGA3):c.967G>C (p.Ala323Pro) rs146195955 0.00033
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_001377295.2(GNAT2):c.14C>T (p.Ala5Val) rs199503029 0.00029
NM_019098.5(CNGB3):c.912C>T (p.Val304=) rs117806701 0.00029
NM_001377295.2(GNAT2):c.369C>T (p.Leu123=) rs12046787 0.00028
NM_001298.3(CNGA3):c.211G>A (p.Ala71Thr) rs61756692 0.00026
NM_019098.5(CNGB3):c.*1371G>T rs372688369 0.00025
NM_019098.5(CNGB3):c.2415A>C (p.Glu805Asp) rs186448979 0.00025
NM_001377295.2(GNAT2):c.591-9T>C rs199666763 0.00024
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_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_001377295.2(GNAT2):c.928C>T (p.Leu310Phe) rs200883344 0.00020
NM_001298.3(CNGA3):c.1694C>T (p.Thr565Met) rs201747279 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_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_019098.5(CNGB3):c.1204G>T (p.Val402Phe) rs139825253 0.00018
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_001298.3(CNGA3):c.*516T>C rs886056492 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_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_001298.3(CNGA3):c.101+1G>A rs147118493 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_001298.3(CNGA3):c.*1330A>G rs558882744 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_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_006205.3(PDE6H):c.35C>G (p.Ser12Ter) rs200311463 0.00012
NM_019098.5(CNGB3):c.459A>C (p.Gly153=) rs149945278 0.00012
NM_001298.3(CNGA3):c.1034A>G (p.His345Arg) rs780411290 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_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_006204.4(PDE6C):c.2503G>A (p.Gly835Arg) rs142876079 0.00010
NM_019098.5(CNGB3):c.1811G>A (p.Arg604Gln) rs369526115 0.00010
NM_001377295.2(GNAT2):c.1057C>T (p.Leu353Phe) rs61754627 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_001298.3(CNGA3):c.667C>T (p.Arg223Trp) rs138958917 0.00008
NM_001377295.2(GNAT2):c.609G>T (p.Gly203=) rs551776784 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_001298.3(CNGA3):c.*1085G>A rs573445072 0.00007
NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys) rs104893620 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_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_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_001298.3(CNGA3):c.1117G>A (p.Val373Met) rs552553452 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_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_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_145200.5(CABP4):c.646C>T (p.Arg216Ter) rs150115958 0.00004
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_001385125.1(OPN1SW):c.173G>A (p.Arg58His) rs764582600 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_001048181.3(OPN1MW2):c.292G>A (p.Ala98Thr) rs782410634 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_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_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_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
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_000023.11:g.(154153459_154153462)_(154154925_154154928)del
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_001024630.4(RUNX2):c.*3160G>T rs1200428
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_001708.2(OPN1SW):c.640T>C (p.Ser214Pro) rs104894032
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_025136.4(OPA3):c.206A>C (p.Lys69Thr) rs760083523
NM_145200.5(CABP4):c.773A>T (p.Asn258Ile) rs773516968
Single allele

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