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_006204.4(PDE6C):c.1935+10C>A
|
rs1409332
|
0.43098
|
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_006204.4(PDE6C):c.1380C>G (p.Thr460=)
|
rs3737228
|
0.23737
|
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_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.608G>A (p.Arg203Gln)
|
rs16916632
|
0.05057
|
NM_019098.5(CNGB3):c.1781+10A>T
|
rs7000747
|
0.05032
|
NM_001298.2(CNGA3):c.*1351T>G
|
rs28376087
|
0.03691
|
NM_006204.4(PDE6C):c.2096A>C (p.Glu699Ala)
|
rs12261131
|
0.02167
|
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_019098.5(CNGB3):c.354G>T (p.Pro118=)
|
rs75858066
|
0.01037
|
NM_019098.5(CNGB3):c.1397T>C (p.Met466Thr)
|
rs35010099
|
0.00978
|
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.212-3T>C
|
rs79126074
|
0.00635
|
NM_006204.4(PDE6C):c.724-15G>T
|
rs141403797
|
0.00596
|
NM_006204.4(PDE6C):c.1936-9A>G
|
rs182445749
|
0.00536
|
NM_019098.5(CNGB3):c.1179-6T>C
|
rs114127590
|
0.00352
|
NM_019098.5(CNGB3):c.1492T>A (p.Leu498Met)
|
rs115246141
|
0.00350
|
NM_019098.5(CNGB3):c.2420C>G (p.Ala807Gly)
|
rs142846289
|
0.00300
|
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_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.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_019098.5(CNGB3):c.43G>C (p.Gly15Arg)
|
rs150260103
|
0.00122
|
NM_006204.4(PDE6C):c.413T>C (p.Leu138Ser)
|
rs139456217
|
0.00121
|
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)
|
rs147876778
|
0.00119
|
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_019098.5(CNGB3):c.1534A>G (p.Ile512Val)
|
rs146062161
|
0.00086
|
NM_006204.4(PDE6C):c.466C>T (p.Pro156Ser)
|
rs145591492
|
0.00081
|
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.319G>A (p.Gly107Arg)
|
rs146688972
|
0.00057
|
NM_019098.5(CNGB3):c.1368C>T (p.Arg456=)
|
rs141934736
|
0.00054
|
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys)
|
rs147415641
|
0.00049
|
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_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_019098.5(CNGB3):c.1815T>G (p.Thr605=)
|
rs143131185
|
0.00036
|
NM_006204.4(PDE6C):c.792G>A (p.Ala264=)
|
rs375235184
|
0.00034
|
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.912C>T (p.Val304=)
|
rs117806701
|
0.00029
|
NM_019098.5(CNGB3):c.2415A>C (p.Glu805Asp)
|
rs186448979
|
0.00025
|
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.811C>G (p.Pro271Ala)
|
rs149802213
|
0.00022
|
NM_006204.4(PDE6C):c.*235A>T
|
rs543722110
|
0.00021
|
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.2410A>T (p.Lys804Ter)
|
rs151039691
|
0.00019
|
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_019098.5(CNGB3):c.1178+6T>C
|
rs151236891
|
0.00017
|
NM_019098.5(CNGB3):c.474C>T (p.Pro158=)
|
rs151230930
|
0.00016
|
NM_006204.4(PDE6C):c.446C>T (p.Thr149Met)
|
rs139652451
|
0.00015
|
NM_019098.5(CNGB3):c.12G>A (p.Ser4=)
|
rs139284415
|
0.00015
|
NM_019098.5(CNGB3):c.2235G>C (p.Glu745Asp)
|
rs201770811
|
0.00014
|
NM_019098.5(CNGB3):c.1833C>T (p.His611=)
|
rs368787128
|
0.00013
|
NM_019098.5(CNGB3):c.715C>T (p.Arg239Cys)
|
rs200019416
|
0.00013
|
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg)
|
rs104893615
|
0.00012
|
NM_019098.5(CNGB3):c.459A>C (p.Gly153=)
|
rs149945278
|
0.00012
|
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_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_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.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_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.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_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.873C>T (p.Tyr291=)
|
rs138970846
|
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.720C>T (p.Leu240=)
|
rs770816095
|
0.00006
|
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.1585G>A (p.Val529Met)
|
rs104893619
|
0.00004
|
NM_001377295.2(GNAT2):c.481C>T (p.Arg161Ter)
|
rs745308973
|
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.1696C>T (p.His566Tyr)
|
rs144605411
|
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.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.67C>T (p.Arg23Ter)
|
rs777509481
|
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.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_001298.3(CNGA3):c.1642G>A (p.Gly548Arg)
|
rs781227859
|
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.1126A>G (p.Asn376Asp)
|
rs754937899
|
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.1114C>T (p.Pro372Ser)
|
rs1464167194
|
0.00001
|
NM_001298.3(CNGA3):c.1320G>A (p.Trp440Ter)
|
rs1553450764
|
0.00001
|
NM_001298.3(CNGA3):c.1777G>A (p.Glu593Lys)
|
rs774676415
|
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.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.836T>C (p.Ile279Thr)
|
rs762152984
|
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.1207C>T (p.Arg403Ter)
|
rs770786127
|
0.00001
|
NM_019098.5(CNGB3):c.1422T>C (p.Leu474=)
|
rs908750016
|
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.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.241G>A (p.Asp81Asn)
|
rs148834016
|
0.00001
|
NM_019098.5(CNGB3):c.260A>G (p.Asp87Gly)
|
rs1165080500
|
0.00001
|
NM_019098.5(CNGB3):c.441G>T (p.Lys147Asn)
|
rs769966310
|
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.768G>A (p.Ala256=)
|
rs767128005
|
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.853G>A (p.Val285Met)
|
rs1042970165
|
0.00001
|
NM_000513.2(OPN1MW):c.807_948del (p.Met269fs)
|
rs2148787747
|
|
NM_001298.3(CNGA3):c.*1209del
|
rs886056494
|
|
NM_001298.3(CNGA3):c.-37-1G>C
|
rs1553447991
|
|
NM_001298.3(CNGA3):c.1217T>C (p.Met406Thr)
|
rs1553450734
|
|
NM_001298.3(CNGA3):c.1255T>C (p.Ser419Pro)
|
rs371558158
|
|
NM_001298.3(CNGA3):c.1294del (p.Asp432fs)
|
rs1574391103
|
|
NM_001298.3(CNGA3):c.130_151dup (p.Ala51fs)
|
rs1558811557
|
|
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu)
|
rs104893617
|
|
NM_001298.3(CNGA3):c.1719C>G (p.Tyr573Ter)
|
|
|
NM_001298.3(CNGA3):c.1749del (p.Leu584fs)
|
rs2104250161
|
|
NM_001298.3(CNGA3):c.332C>A (p.Ser111Tyr)
|
|
|
NM_001298.3(CNGA3):c.499del (p.Leu167fs)
|
rs1692739030
|
|
NM_001298.3(CNGA3):c.667C>G (p.Arg223Gly)
|
rs138958917
|
|
NM_001298.3(CNGA3):c.704A>T (p.Asp235Val)
|
rs1692898861
|
|
NM_001298.3(CNGA3):c.796G>A (p.Val266Met)
|
rs536335712
|
|
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.985G>T (p.Gly329Cys)
|
rs1558820134
|
|
NM_001377295.2(GNAT2):c.591-2A>C
|
rs1557918638
|
|
NM_006204.4(PDE6C):c.*64A>C
|
rs1781280550
|
|
NM_006204.4(PDE6C):c.-7C>A
|
rs2058397201
|
|
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.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.1847+3_1847+6del
|
rs1554890513
|
|
NM_006204.4(PDE6C):c.2141T>A (p.Ile714Asn)
|
rs1064797148
|
|
NM_006204.4(PDE6C):c.2208+13_2208+17del
|
rs886047483
|
|
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.2288T>C (p.Met763Thr)
|
rs1554892197
|
|
NM_006204.4(PDE6C):c.2294A>G (p.Asp765Gly)
|
rs1554892199
|
|
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.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.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_007348.3(ATF6):c.160dup (p.Glu54Glyfs)
|
rs1553227755
|
|
NM_007348.4(ATF6):c.417dup (p.Asn140Ter)
|
rs765383904
|
|
NM_007348.4(ATF6):c.484+1G>T
|
rs764142241
|
|
NM_019098.4(CNGB3):c.(211+1_212-1)_(338+1_339-1)del
|
|
|
NM_019098.5(CNGB3):c.1013A>G (p.Asn338Ser)
|
rs548817727
|
|
NM_019098.5(CNGB3):c.1055+1G>C
|
rs1823261605
|
|
NM_019098.5(CNGB3):c.105_114del (p.Gln36fs)
|
rs1586047969
|
|
NM_019098.5(CNGB3):c.112C>T (p.Gln38Ter)
|
rs786204498
|
|
NM_019098.5(CNGB3):c.1178+9T>C
|
rs549858104
|
|
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.1285dup (p.Ser429fs)
|
rs776896038
|
|
NM_019098.5(CNGB3):c.130-1G>A
|
rs1554619303
|
|
NM_019098.5(CNGB3):c.1347A>T (p.Thr449=)
|
rs768959472
|
|
NM_019098.5(CNGB3):c.1378G>A (p.Asp460Asn)
|
rs148572872
|
|
NM_019098.5(CNGB3):c.1578+1G>T
|
rs372006750
|
|
NM_019098.5(CNGB3):c.1579-1G>A
|
rs1057516504
|
|
NM_019098.5(CNGB3):c.1663-2137C>T
|
rs998703203
|
|
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.1781+1del
|
rs1554607546
|
|
NM_019098.5(CNGB3):c.1783C>T (p.Leu595Phe)
|
rs1554604849
|
|
NM_019098.5(CNGB3):c.1956C>T (p.Thr652=)
|
rs767430685
|
|
NM_019098.5(CNGB3):c.2107A>G (p.Lys703Glu)
|
rs748785588
|
|
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.2217T>C (p.Asp739=)
|
rs1425570775
|
|
NM_019098.5(CNGB3):c.2313_2315del (p.Arg772del)
|
rs758914061
|
|
NM_019098.5(CNGB3):c.2328del (p.Arg777fs)
|
rs1585941011
|
|
NM_019098.5(CNGB3):c.2419G>T (p.Ala807Ser)
|
rs375288585
|
|
NM_019098.5(CNGB3):c.339-10dup
|
rs200792506
|
|
NM_019098.5(CNGB3):c.353C>T (p.Pro118Leu)
|
rs755429797
|
|
NM_019098.5(CNGB3):c.391C>T (p.Gln131Ter)
|
rs786204492
|
|
NM_019098.5(CNGB3):c.494-11del
|
rs36008065
|
|
NM_019098.5(CNGB3):c.494-11dup
|
rs36008065
|
|
NM_019098.5(CNGB3):c.494-8dup
|
rs763273522
|
|
NM_019098.5(CNGB3):c.504G>T (p.Thr168=)
|
rs751547136
|
|
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.803T>C (p.Met268Thr)
|
rs1440942177
|
|
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs)
|
rs775796581
|
|
NM_019098.5(CNGB3):c.819del (p.Arg274fs)
|
rs1586003680
|
|
NM_019098.5(CNGB3):c.910G>T (p.Val304Phe)
|
rs1454679758
|
|
NM_025136.4(OPA3):c.206A>C (p.Lys69Thr)
|
rs760083523
|
|
NM_145200.5(CABP4):c.773A>T (p.Asn258Ile)
|
rs773516968
|
|