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
|
|
|