NM_000350.3(ABCA4):c.141A>G (p.Pro47=)
|
rs4847281
|
0.98746
|
NM_019098.5(CNGB3):c.702T>G (p.Cys234Trp)
|
rs6471482
|
0.88912
|
NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=)
|
rs1762114
|
0.78856
|
NM_000350.3(ABCA4):c.5585-70C>T
|
rs537831
|
0.65778
|
NM_019098.5(CNGB3):c.892A>C (p.Thr298Pro)
|
rs4961206
|
0.64246
|
NM_000350.3(ABCA4):c.4773+48C>T
|
rs472908
|
0.62724
|
NM_019098.4(CNGB3):c.*1639C>A
|
rs990192
|
0.58635
|
NM_000350.3(ABCA4):c.4128+156C>T
|
rs4147841
|
0.56024
|
NM_006017.3(PROM1):c.*1078A>G
|
rs3130
|
0.53265
|
NM_000350.3(ABCA4):c.302+26A>G
|
rs2297634
|
0.48752
|
NM_000350.3(ABCA4):c.1240-14C>T
|
rs4147830
|
0.47169
|
NM_006017.3(PROM1):c.303+6G>A
|
rs2078622
|
0.39397
|
NM_006017.3(PROM1):c.2374-6T>C
|
rs6449209
|
0.34571
|
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=)
|
rs1801574
|
0.23813
|
NM_006017.3(PROM1):c.2582+43C>T
|
rs11725522
|
0.22440
|
NM_006017.3(PROM1):c.*667A>C
|
rs2240688
|
0.21643
|
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=)
|
rs4147857
|
0.20473
|
NM_000350.3(ABCA4):c.5715-25A>C
|
rs4147856
|
0.20432
|
NM_006017.3(PROM1):c.2281-6C>G
|
rs3815344
|
0.20394
|
NM_000350.3(ABCA4):c.5836-11G>A
|
rs1800739
|
0.20309
|
NM_000350.3(ABCA4):c.5836-43C>A
|
rs2275031
|
0.19847
|
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=)
|
rs2275029
|
0.19626
|
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile)
|
rs6666652
|
0.17582
|
NM_022726.4(ELOVL4):c.895A>G (p.Met299Val)
|
rs3812153
|
0.15428
|
NM_022726.4(ELOVL4):c.*142G>C
|
rs1512118
|
0.15383
|
NM_022726.4(ELOVL4):c.*667T>C
|
rs16891260
|
0.15372
|
NM_000350.3(ABCA4):c.6730-3T>C
|
rs1800717
|
0.15096
|
NM_022726.4(ELOVL4):c.-236C>T
|
rs240307
|
0.14804
|
NM_022726.4(ELOVL4):c.*1669T>G
|
rs2991
|
0.14296
|
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=)
|
rs1801359
|
0.13311
|
NM_000350.3(ABCA4):c.6282+7G>A
|
rs17110761
|
0.13306
|
NM_019098.4(CNGB3):c.*1638G>A
|
rs28471019
|
0.09998
|
NM_006017.3(PROM1):c.1003-35A>C
|
rs2286458
|
0.09908
|
NM_006017.3(PROM1):c.786G>A (p.Ala262=)
|
rs2286455
|
0.09727
|
NM_006017.3(PROM1):c.129C>T (p.Thr43=)
|
rs10033086
|
0.09038
|
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_006017.3(PROM1):c.15C>T (p.Leu5=)
|
rs10033189
|
0.06194
|
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_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_006017.3(PROM1):c.1983+14G>A
|
rs4698436
|
0.04259
|
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)
|
rs1801466
|
0.04126
|
NM_006017.3(PROM1):c.228G>A (p.Leu76=)
|
rs76963591
|
0.03578
|
NM_006017.3(PROM1):c.1768-5C>T
|
rs55708318
|
0.03551
|
NM_022726.4(ELOVL4):c.*361C>T
|
rs41270557
|
0.03380
|
NM_022726.4(ELOVL4):c.*609G>A
|
rs41270555
|
0.03374
|
NM_022726.4(ELOVL4):c.*1066T>G
|
rs45594338
|
0.03371
|
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln)
|
rs1801581
|
0.02951
|
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg)
|
rs61750126
|
0.02895
|
NM_022726.4(ELOVL4):c.*1551A>G
|
rs55808788
|
0.02617
|
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=)
|
rs77293072
|
0.02574
|
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_006017.3(PROM1):c.631-14T>C
|
rs16892824
|
0.01810
|
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_022726.4(ELOVL4):c.814G>C (p.Glu272Gln)
|
rs148919174
|
0.00936
|
NM_006017.3(PROM1):c.55T>G (p.Ser19Ala)
|
rs189108830
|
0.00928
|
NM_019098.5(CNGB3):c.1626C>T (p.Ser542=)
|
rs35903042
|
0.00786
|
NM_019098.5(CNGB3):c.*621G>A
|
rs116835980
|
0.00669
|
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)
|
rs62642564
|
0.00654
|
NM_022726.4(ELOVL4):c.800T>C (p.Ile267Thr)
|
rs148594713
|
0.00636
|
NM_019098.5(CNGB3):c.212-3T>C
|
rs79126074
|
0.00635
|
NM_006017.3(PROM1):c.1751A>G (p.His584Arg)
|
rs140027620
|
0.00608
|
NM_006017.3(PROM1):c.1911+14G>A
|
rs79077926
|
0.00565
|
NM_006017.3(PROM1):c.1683-3C>T
|
rs143470288
|
0.00518
|
NM_006017.3(PROM1):c.*684C>T
|
rs140362696
|
0.00496
|
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met)
|
rs61749417
|
0.00491
|
NM_000350.3(ABCA4):c.4253+43G>A
|
rs61754045
|
0.00486
|
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
NM_022726.4(ELOVL4):c.*509C>T
|
rs149410136
|
0.00424
|
NM_022726.4(ELOVL4):c.*8T>C
|
rs144822141
|
0.00421
|
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala)
|
rs61749435
|
0.00385
|
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)
|
rs28938473
|
0.00362
|
NM_019098.5(CNGB3):c.1492T>A (p.Leu498Met)
|
rs115246141
|
0.00350
|
NM_022726.4(ELOVL4):c.-98C>T
|
rs562763990
|
0.00344
|
NM_022726.4(ELOVL4):c.-268T>G
|
rs546271509
|
0.00343
|
NM_000350.3(ABCA4):c.1878G>A (p.Ala626=)
|
rs61754023
|
0.00324
|
NM_006017.3(PROM1):c.1497C>T (p.Ile499=)
|
rs113895168
|
0.00322
|
NM_019098.5(CNGB3):c.*29G>T
|
rs138432513
|
0.00309
|
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)
|
rs41292677
|
0.00308
|
NM_019098.5(CNGB3):c.2420C>G (p.Ala807Gly)
|
rs142846289
|
0.00300
|
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln)
|
rs62646862
|
0.00276
|
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
|
rs1800553
|
0.00269
|
NM_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp)
|
rs35365413
|
0.00248
|
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile)
|
rs145525174
|
0.00246
|
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg)
|
rs113106943
|
0.00239
|
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)
|
rs62646863
|
0.00222
|
NM_006017.3(PROM1):c.1977C>T (p.Asn659=)
|
rs149028760
|
0.00222
|
NM_006017.3(PROM1):c.-25T>A
|
rs149845694
|
0.00194
|
NM_000350.3(ABCA4):c.5196+1159G>A
|
rs80110715
|
0.00191
|
NM_006017.3(PROM1):c.1579-6T>C
|
rs181261277
|
0.00190
|
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile)
|
rs56357060
|
0.00189
|
NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=)
|
rs61748519
|
0.00185
|
NM_000350.3(ABCA4):c.2588-12C>G
|
rs61751396
|
0.00183
|
NM_000350.3(ABCA4):c.838A>T (p.Met280Leu)
|
rs138682163
|
0.00183
|
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly)
|
rs61754024
|
0.00178
|
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)
|
rs61751374
|
0.00178
|
NM_019098.5(CNGB3):c.*1459C>T
|
rs192543896
|
0.00178
|
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala)
|
rs61754030
|
0.00174
|
NM_022726.4(ELOVL4):c.*1050A>G
|
rs114429396
|
0.00158
|
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)
|
rs1800552
|
0.00153
|
NM_006017.3(PROM1):c.1345G>A (p.Val449Met)
|
rs200620291
|
0.00152
|
NM_006017.3(PROM1):c.2211+7C>T
|
rs372262346
|
0.00150
|
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)
|
rs58331765
|
0.00136
|
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile)
|
rs61749440
|
0.00133
|
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr)
|
rs1762111
|
0.00132
|
NM_006017.3(PROM1):c.868A>C (p.Ser290Arg)
|
rs182096110
|
0.00128
|
NM_019098.5(CNGB3):c.2159A>G (p.Gln720Arg)
|
rs112573107
|
0.00124
|
NM_019098.4(CNGB3):c.-32T>C
|
rs376141938
|
0.00123
|
NM_019098.5(CNGB3):c.43G>C (p.Gly15Arg)
|
rs150260103
|
0.00122
|
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=)
|
rs145483148
|
0.00120
|
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)
|
rs147876778
|
0.00119
|
NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe)
|
rs201150919
|
0.00100
|
NM_000350.3(ABCA4):c.1500G>A (p.Arg500=)
|
rs139050119
|
0.00097
|
NM_019098.5(CNGB3):c.*1183T>C
|
rs78927155
|
0.00096
|
NM_022726.4(ELOVL4):c.-103G>C
|
rs530801492
|
0.00096
|
NM_022726.4(ELOVL4):c.*40A>C
|
rs185190995
|
0.00091
|
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys)
|
rs1800548
|
0.00090
|
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala)
|
rs61749454
|
0.00089
|
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile)
|
rs61750563
|
0.00088
|
NM_006017.3(PROM1):c.714A>G (p.Gly238=)
|
rs201662148
|
0.00088
|
NM_019098.5(CNGB3):c.*125G>C
|
rs186370374
|
0.00087
|
NM_019098.5(CNGB3):c.1534A>G (p.Ile512Val)
|
rs146062161
|
0.00086
|
NM_006017.3(PROM1):c.*1149A>G
|
rs543722299
|
0.00083
|
NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu)
|
rs62645939
|
0.00079
|
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met)
|
rs61753019
|
0.00076
|
NM_022726.4(ELOVL4):c.699G>A (p.Thr233=)
|
rs17853840
|
0.00073
|
NM_006017.3(PROM1):c.1491G>T (p.Leu497Phe)
|
rs200520976
|
0.00070
|
NM_019098.5(CNGB3):c.913G>A (p.Ala305Thr)
|
rs144637286
|
0.00070
|
NM_006017.3(PROM1):c.*189A>G
|
rs537324748
|
0.00068
|
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)
|
rs61748549
|
0.00066
|
NM_006017.3(PROM1):c.1928C>G (p.Ala643Gly)
|
rs62617075
|
0.00065
|
NM_019098.5(CNGB3):c.1510A>G (p.Thr504Ala)
|
rs140286824
|
0.00065
|
NM_019098.5(CNGB3):c.494-11T>C
|
rs543970676
|
0.00062
|
NM_001142800.2(EYS):c.1459+5C>T
|
rs200387978
|
0.00061
|
NM_006017.3(PROM1):c.2284A>G (p.Ser762Gly)
|
rs202029748
|
0.00058
|
NM_019098.5(CNGB3):c.319G>A (p.Gly107Arg)
|
rs146688972
|
0.00057
|
NM_000350.3(ABCA4):c.981C>T (p.Pro327=)
|
rs61753057
|
0.00054
|
NM_019098.5(CNGB3):c.1368C>T (p.Arg456=)
|
rs141934736
|
0.00054
|
NM_019098.5(CNGB3):c.*51C>T
|
rs189210452
|
0.00051
|
NM_022726.4(ELOVL4):c.*217C>G
|
rs537775144
|
0.00051
|
NM_022726.4(ELOVL4):c.*1511G>A
|
rs547251322
|
0.00049
|
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)
|
rs61750641
|
0.00048
|
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu)
|
rs61748434
|
0.00044
|
NM_000350.3(ABCA4):c.2877C>T (p.Thr959=)
|
rs61754033
|
0.00041
|
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)
|
rs140482171
|
0.00037
|
NM_000350.3(ABCA4):c.1692A>G (p.Pro564=)
|
rs143263315
|
0.00037
|
NM_006017.3(PROM1):c.-168G>A
|
rs180926533
|
0.00037
|
NM_000350.3(ABCA4):c.5714+5G>A
|
rs61751407
|
0.00036
|
NM_006017.3(PROM1):c.2112C>T (p.Arg704=)
|
rs375358457
|
0.00036
|
NM_019098.5(CNGB3):c.1815T>G (p.Thr605=)
|
rs143131185
|
0.00036
|
NM_000350.3(ABCA4):c.2819C>G (p.Pro940Arg)
|
rs144995371
|
0.00034
|
NM_000350.3(ABCA4):c.3416A>G (p.Tyr1139Cys)
|
rs150895509
|
0.00034
|
NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys)
|
rs61750648
|
0.00034
|
NM_019098.5(CNGB3):c.*737T>C
|
rs146999298
|
0.00034
|
NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys)
|
rs200692438
|
0.00033
|
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser)
|
rs61748532
|
0.00033
|
NM_004183.4(BEST1):c.422G>A (p.Arg141His)
|
rs121918284
|
0.00033
|
NM_006017.3(PROM1):c.1911+8G>A
|
rs370302107
|
0.00033
|
NM_000350.3(ABCA4):c.5461-10T>C
|
rs1800728
|
0.00031
|
NM_019098.5(CNGB3):c.2308G>T (p.Val770Phe)
|
rs78239264
|
0.00031
|
NM_022726.4(ELOVL4):c.351T>A (p.Asn117Lys)
|
rs148018494
|
0.00031
|
NM_022726.4(ELOVL4):c.*1048G>A
|
rs569179100
|
0.00030
|
NM_019098.5(CNGB3):c.912C>T (p.Val304=)
|
rs117806701
|
0.00029
|
NM_000350.3(ABCA4):c.3076T>C (p.Phe1026Leu)
|
rs369703217
|
0.00028
|
NM_022726.4(ELOVL4):c.*377T>A
|
rs77249894
|
0.00027
|
NM_000322.5(PRPH2):c.94A>G (p.Ile32Val)
|
rs61755767
|
0.00026
|
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly)
|
rs140872693
|
0.00026
|
NM_006017.3(PROM1):c.963G>T (p.Leu321Phe)
|
rs202041422
|
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_000350.3(ABCA4):c.3758C>T (p.Thr1253Met)
|
rs61752424
|
0.00024
|
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln)
|
rs148460146
|
0.00024
|
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)
|
rs61750130
|
0.00023
|
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu)
|
rs1801269
|
0.00022
|
NM_006017.3(PROM1):c.2271C>T (p.Ile757=)
|
rs375986111
|
0.00022
|
NM_178857.6(RP1L1):c.2927C>T (p.Ala976Val)
|
rs200854148
|
0.00022
|
NM_006017.3(PROM1):c.181A>G (p.Ile61Val)
|
rs201701647
|
0.00021
|
NM_006017.3(PROM1):c.678G>A (p.Ala226=)
|
rs187116049
|
0.00020
|
NM_000350.3(ABCA4):c.2473G>A (p.Gly825Arg)
|
rs368367104
|
0.00019
|
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys)
|
rs61750120
|
0.00019
|
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu)
|
rs146786552
|
0.00019
|
NM_000350.3(ABCA4):c.5606C>T (p.Pro1869Leu)
|
rs376925793
|
0.00019
|
NM_006017.3(PROM1):c.843C>T (p.His281=)
|
rs374394451
|
0.00019
|
NM_019098.5(CNGB3):c.*798A>C
|
rs886063157
|
0.00019
|
NM_022726.4(ELOVL4):c.*349C>T
|
rs1042694825
|
0.00019
|
NM_000322.5(PRPH2):c.541A>T (p.Ser181Cys)
|
rs1465783712
|
0.00018
|
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)
|
rs61751408
|
0.00018
|
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)
|
rs61751392
|
0.00017
|
NM_019098.5(CNGB3):c.1898A>G (p.Asp633Gly)
|
rs139337746
|
0.00017
|
NM_022726.4(ELOVL4):c.*146A>T
|
rs1042725955
|
0.00017
|
NM_022726.4(ELOVL4):c.*327A>G
|
rs1001220828
|
0.00017
|
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met)
|
rs61750152
|
0.00016
|
NM_006017.3(PROM1):c.1279T>C (p.Leu427=)
|
rs200710798
|
0.00016
|
NM_019098.5(CNGB3):c.*499G>C
|
rs540507221
|
0.00016
|
NM_019098.5(CNGB3):c.*84C>T
|
rs372938106
|
0.00015
|
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=)
|
rs201602424
|
0.00014
|
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala)
|
rs121909207
|
0.00014
|
NM_000350.3(ABCA4):c.6560A>G (p.Gln2187Arg)
|
rs1339233014
|
0.00014
|
NM_019098.5(CNGB3):c.*649A>G
|
rs778028865
|
0.00014
|
NM_019098.5(CNGB3):c.*997A>G
|
rs141428300
|
0.00014
|
NM_000350.3(ABCA4):c.5196+1137G>A
|
rs778234759
|
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_000350.3(ABCA4):c.1522C>T (p.Arg508Cys)
|
rs138157885
|
0.00011
|
NM_006017.3(PROM1):c.556C>T (p.Arg186Trp)
|
rs369512467
|
0.00011
|
NM_006017.3(PROM1):c.731G>A (p.Arg244Gln)
|
rs369815021
|
0.00011
|
NM_019098.5(CNGB3):c.*108C>T
|
rs1031324821
|
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_000322.5(PRPH2):c.623G>A (p.Gly208Asp)
|
rs139185976
|
0.00010
|
NM_006017.3(PROM1):c.-127A>G
|
rs886059206
|
0.00010
|
NM_006017.3(PROM1):c.2485G>A (p.Asp829Asn)
|
rs146434364
|
0.00010
|
NM_022726.4(ELOVL4):c.*1020A>G
|
rs563759730
|
0.00010
|
NM_022726.4(ELOVL4):c.*1506A>G
|
rs886061798
|
0.00010
|
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu)
|
rs61750145
|
0.00009
|
NM_000350.3(ABCA4):c.5714+4C>T
|
rs376586802
|
0.00009
|
NM_006017.3(PROM1):c.376G>A (p.Val126Met)
|
rs199556426
|
0.00009
|
NM_000350.3(ABCA4):c.3608-35A>G
|
rs372604876
|
0.00008
|
NM_000350.3(ABCA4):c.5329A>T (p.Met1777Leu)
|
rs375184282
|
0.00008
|
NM_000350.3(ABCA4):c.5460+3G>A
|
rs371777196
|
0.00008
|
NM_000350.3(ABCA4):c.5478C>T (p.Asn1826=)
|
rs762632312
|
0.00008
|
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)
|
rs61750200
|
0.00008
|
NM_022726.4(ELOVL4):c.311C>T (p.Ala104Val)
|
rs200915130
|
0.00008
|
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser)
|
rs201471607
|
0.00007
|
NM_000350.3(ABCA4):c.5881G>A (p.Gly1961Arg)
|
rs142253670
|
0.00007
|
NM_006017.3(PROM1):c.1576C>T (p.Arg526Trp)
|
rs201870277
|
0.00007
|
NM_006017.3(PROM1):c.717C>T (p.Gly239=)
|
rs763697898
|
0.00007
|
NM_022726.4(ELOVL4):c.*1568A>G
|
rs886061796
|
0.00007
|
NM_000350.3(ABCA4):c.2453G>A (p.Gly818Glu)
|
rs61750202
|
0.00006
|
NM_000350.3(ABCA4):c.2576A>G (p.Gln859Arg)
|
rs140281495
|
0.00006
|
NM_000350.3(ABCA4):c.302+68C>T
|
rs761188244
|
0.00006
|
NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys)
|
rs756840095
|
0.00006
|
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)
|
rs61751402
|
0.00006
|
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn)
|
rs62642574
|
0.00006
|
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met)
|
rs62642575
|
0.00006
|
NM_000350.3(ABCA4):c.4715C>T (p.Thr1572Met)
|
rs185093512
|
0.00006
|
NM_000350.3(ABCA4):c.768G>T (p.Val256=)
|
rs62645944
|
0.00006
|
NM_006017.3(PROM1):c.*580T>A
|
rs1250583925
|
0.00006
|
NM_006017.3(PROM1):c.277-15C>T
|
rs372599685
|
0.00006
|
NM_019098.5(CNGB3):c.1531G>A (p.Ala511Thr)
|
rs150642676
|
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_022726.4(ELOVL4):c.-163C>A
|
rs374986643
|
0.00006
|
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys)
|
rs201117452
|
0.00005
|
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln)
|
rs61748559
|
0.00005
|
NM_000350.3(ABCA4):c.4417C>A (p.Leu1473Met)
|
rs142732109
|
0.00005
|
NM_000350.3(ABCA4):c.4519G>A (p.Gly1507Arg)
|
rs568792949
|
0.00005
|
NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp)
|
rs121909205
|
0.00005
|
NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr)
|
rs61751384
|
0.00005
|
NM_006017.3(PROM1):c.1152G>C (p.Arg384Ser)
|
rs201748228
|
0.00005
|
NM_006017.3(PROM1):c.1344C>T (p.Ile448=)
|
rs147174580
|
0.00005
|
NM_006017.3(PROM1):c.2582+9A>C
|
rs200033458
|
0.00005
|
NM_006017.3(PROM1):c.718G>A (p.Gly240Arg)
|
rs752543587
|
0.00005
|
NM_022726.4(ELOVL4):c.-35C>T
|
rs751105802
|
0.00005
|
NM_000322.5(PRPH2):c.271T>A (p.Tyr91Asn)
|
rs747893076
|
0.00004
|
NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter)
|
rs61748550
|
0.00004
|
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr)
|
rs150774447
|
0.00004
|
NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg)
|
rs61749412
|
0.00004
|
NM_000350.3(ABCA4):c.2300T>A (p.Val767Asp)
|
rs61751395
|
0.00004
|
NM_000350.3(ABCA4):c.320G>A (p.Arg107Gln)
|
rs759799179
|
0.00004
|
NM_000350.3(ABCA4):c.4539+2028C>T
|
rs869320785
|
0.00004
|
NM_000350.3(ABCA4):c.4773+3A>G
|
rs759672616
|
0.00004
|
NM_000350.3(ABCA4):c.6112C>T (p.Arg2038Trp)
|
rs61750643
|
0.00004
|
NM_000350.3(ABCA4):c.6319C>T (p.Arg2107Cys)
|
rs2297669
|
0.00004
|
NM_000350.3(ABCA4):c.766G>T (p.Val256Leu)
|
rs374851665
|
0.00004
|
NM_006017.3(PROM1):c.*1052G>A
|
rs577484119
|
0.00004
|
NM_006017.3(PROM1):c.*1070A>G
|
rs886059195
|
0.00004
|
NM_006017.3(PROM1):c.1195C>T (p.Arg399Cys)
|
rs770268627
|
0.00004
|
NM_006017.3(PROM1):c.1199T>C (p.Leu400Pro)
|
rs140682455
|
0.00004
|
NM_006017.3(PROM1):c.1407G>A (p.Pro469=)
|
rs763710252
|
0.00004
|
NM_006017.3(PROM1):c.155T>C (p.Ile52Thr)
|
rs778896066
|
0.00004
|
NM_006017.3(PROM1):c.1579-12A>C
|
rs370183490
|
0.00004
|
NM_006017.3(PROM1):c.1632G>T (p.Gly544=)
|
rs753308387
|
0.00004
|
NM_006017.3(PROM1):c.2364C>T (p.Ile788=)
|
rs551849678
|
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.2248C>T (p.Pro750Ser)
|
rs3735971
|
0.00004
|
NM_019098.5(CNGB3):c.2419G>A (p.Ala807Thr)
|
rs375288585
|
0.00004
|
NM_019098.5(CNGB3):c.739G>A (p.Ala247Thr)
|
rs150490913
|
0.00004
|
NM_000322.5(PRPH2):c.380A>G (p.Glu127Gly)
|
rs543703718
|
0.00003
|
NM_000322.5(PRPH2):c.425G>A (p.Arg142Gln)
|
rs554945964
|
0.00003
|
NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys)
|
rs61748556
|
0.00003
|
NM_000350.3(ABCA4):c.1937+1G>A
|
rs61752401
|
0.00003
|
NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys)
|
rs138359497
|
0.00003
|
NM_000350.3(ABCA4):c.4195G>A (p.Glu1399Lys)
|
rs62642573
|
0.00003
|
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His)
|
rs61750142
|
0.00003
|
NM_000350.3(ABCA4):c.4539+2001G>A
|
rs1457937638
|
0.00003
|
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp)
|
rs61750155
|
0.00003
|
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)
|
rs61751404
|
0.00003
|
NM_000350.3(ABCA4):c.5087G>A (p.Ser1696Asn)
|
rs61750564
|
0.00003
|
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp)
|
rs61751406
|
0.00003
|
NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp)
|
rs61753029
|
0.00003
|
NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro)
|
rs61753033
|
0.00003
|
NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val)
|
rs61748521
|
0.00003
|
NM_000539.3(RHO):c.361G>A (p.Gly121Ser)
|
rs771637224
|
0.00003
|
NM_006017.3(PROM1):c.1301+10T>A
|
rs192338518
|
0.00003
|
NM_006017.3(PROM1):c.1301+11C>A
|
rs189953160
|
0.00003
|
NM_006017.3(PROM1):c.1450A>G (p.Met484Val)
|
rs574974703
|
0.00003
|
NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu)
|
rs761911901
|
0.00003
|
NM_006017.3(PROM1):c.2446G>C (p.Ala816Pro)
|
rs368515078
|
0.00003
|
NM_006017.3(PROM1):c.276+15G>T
|
rs766012920
|
0.00003
|
NM_019098.5(CNGB3):c.*1476T>A
|
rs914165933
|
0.00003
|
NM_022726.4(ELOVL4):c.-235C>T
|
rs886061804
|
0.00003
|
NM_133497.4(KCNV2):c.357dup (p.Lys120fs)
|
rs1402837406
|
0.00003
|
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val)
|
rs55732384
|
0.00002
|
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)
|
rs61749409
|
0.00002
|
NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter)
|
rs145961131
|
0.00002
|
NM_000350.3(ABCA4):c.2827C>T (p.Arg943Trp)
|
rs61749446
|
0.00002
|
NM_000350.3(ABCA4):c.2932G>A (p.Gly978Ser)
|
rs61749452
|
0.00002
|
NM_000350.3(ABCA4):c.303-3C>T
|
rs777945195
|
0.00002
|
NM_000350.3(ABCA4):c.3050+5G>A
|
rs61751262
|
0.00002
|
NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met)
|
rs201855602
|
0.00002
|
NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys)
|
rs61751399
|
0.00002
|
NM_000350.3(ABCA4):c.3898C>T (p.Arg1300Ter)
|
rs61752427
|
0.00002
|
NM_000350.3(ABCA4):c.4140G>A (p.Pro1380=)
|
rs139109485
|
0.00002
|
NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg)
|
rs281865402
|
0.00002
|
NM_000350.3(ABCA4):c.4739T>C (p.Leu1580Ser)
|
rs777415466
|
0.00002
|
NM_000350.3(ABCA4):c.6113G>A (p.Arg2038Gln)
|
rs767729255
|
0.00002
|
NM_000350.3(ABCA4):c.656G>C (p.Arg219Thr)
|
rs61748537
|
0.00002
|
NM_000350.3(ABCA4):c.6647C>T (p.Ala2216Val)
|
rs886044763
|
0.00002
|
NM_000350.3(ABCA4):c.885del (p.Leu296fs)
|
rs764759172
|
0.00002
|
NM_006017.3(PROM1):c.1377C>T (p.Gly459=)
|
rs779072238
|
0.00002
|
NM_006017.3(PROM1):c.1468A>T (p.Ser490Cys)
|
rs536622788
|
0.00002
|
NM_006017.3(PROM1):c.1982T>C (p.Leu661Ser)
|
rs372632641
|
0.00002
|
NM_006017.3(PROM1):c.2578A>G (p.Thr860Ala)
|
rs747844753
|
0.00002
|
NM_006017.3(PROM1):c.792G>A (p.Lys264=)
|
rs776605111
|
0.00002
|
NM_019098.5(CNGB3):c.*183A>C
|
rs1199541859
|
0.00002
|
NM_022726.4(ELOVL4):c.*1193T>C
|
rs975960939
|
0.00002
|
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)
|
rs61755771
|
0.00001
|
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)
|
rs61755783
|
0.00001
|
NM_000322.5(PRPH2):c.638G>A (p.Cys213Tyr)
|
rs61755803
|
0.00001
|
NM_000322.5(PRPH2):c.683C>T (p.Thr228Ile)
|
rs369507460
|
0.00001
|
NM_000322.5(PRPH2):c.828+3A>T
|
rs281865373
|
0.00001
|
NM_000350.3(ABCA4):c.1009T>C (p.Phe337Leu)
|
rs886044724
|
0.00001
|
NM_000350.3(ABCA4):c.1239+1G>C
|
rs765707028
|
0.00001
|
NM_000350.3(ABCA4):c.1293G>A (p.Trp431Ter)
|
rs886044725
|
0.00001
|
NM_000350.3(ABCA4):c.1335C>G (p.Ser445Arg)
|
rs61748552
|
0.00001
|
NM_000350.3(ABCA4):c.1364T>A (p.Leu455Gln)
|
rs1366296798
|
0.00001
|
NM_000350.3(ABCA4):c.1584C>A (p.Tyr528Ter)
|
rs886044727
|
0.00001
|
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg)
|
rs61748558
|
0.00001
|
NM_000350.3(ABCA4):c.1694C>A (p.Pro565His)
|
rs765891059
|
0.00001
|
NM_000350.3(ABCA4):c.1761-2A>G
|
rs754765164
|
0.00001
|
NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile)
|
rs61752398
|
0.00001
|
NM_000350.3(ABCA4):c.184C>T (p.Pro62Ser)
|
rs1355238974
|
0.00001
|
NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter)
|
rs61749414
|
0.00001
|
NM_000350.3(ABCA4):c.1938-1G>A
|
rs61751263
|
0.00001
|
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys)
|
rs61749420
|
0.00001
|
NM_000350.3(ABCA4):c.1A>G (p.Met1Val)
|
rs201738997
|
0.00001
|
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile)
|
rs575453437
|
0.00001
|
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg)
|
rs61751412
|
0.00001
|
NM_000350.3(ABCA4):c.2160+1G>T
|
rs61749427
|
0.00001
|
NM_000350.3(ABCA4):c.223T>G (p.Cys75Gly)
|
rs61748526
|
0.00001
|
NM_000350.3(ABCA4):c.2291G>A (p.Cys764Tyr)
|
rs61749428
|
0.00001
|
NM_000350.3(ABCA4):c.2396C>T (p.Pro799Leu)
|
rs542919944
|
0.00001
|
NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr)
|
rs374410829
|
0.00001
|
NM_000350.3(ABCA4):c.247_250dup (p.Ser84fs)
|
rs1005271380
|
0.00001
|
NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr)
|
rs61749437
|
0.00001
|
NM_000350.3(ABCA4):c.2564G>A (p.Trp855Ter)
|
rs61752406
|
0.00001
|
NM_000350.3(ABCA4):c.2609C>T (p.Pro870Leu)
|
rs746566873
|
0.00001
|
NM_000350.3(ABCA4):c.2744-402G>A
|
rs1251023127
|
0.00001
|
NM_000350.3(ABCA4):c.2779C>T (p.Pro927Ser)
|
rs985690206
|
0.00001
|
NM_000350.3(ABCA4):c.2919-10T>C
|
rs886044733
|
0.00001
|
NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys)
|
rs61749459
|
0.00001
|
NM_000350.3(ABCA4):c.3106G>A (p.Glu1036Lys)
|
rs61750061
|
0.00001
|
NM_000350.3(ABCA4):c.319C>T (p.Arg107Ter)
|
rs765429911
|
0.00001
|
NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys)
|
rs61751398
|
0.00001
|
NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro)
|
rs62645946
|
0.00001
|
NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His)
|
rs768278935
|
0.00001
|
NM_000350.3(ABCA4):c.3523-1G>A
|
rs766239144
|
0.00001
|
NM_000350.3(ABCA4):c.3900A>G (p.Arg1300=)
|
rs886044739
|
0.00001
|
NM_000350.3(ABCA4):c.4069G>A (p.Ala1357Thr)
|
rs754899711
|
0.00001
|
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg)
|
rs61750135
|
0.00001
|
NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter)
|
rs61750137
|
0.00001
|
NM_000350.3(ABCA4):c.4253+5G>A
|
rs61750138
|
0.00001
|
NM_000350.3(ABCA4):c.428C>T (p.Pro143Leu)
|
rs62646860
|
0.00001
|
NM_000350.3(ABCA4):c.4326C>A (p.Asn1442Lys)
|
rs762150575
|
0.00001
|
NM_000350.3(ABCA4):c.4347G>T (p.Trp1449Cys)
|
rs886044741
|
0.00001
|
NM_000350.3(ABCA4):c.4352+1G>A
|
rs200967229
|
0.00001
|
NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg)
|
rs758835368
|
0.00001
|
NM_000350.3(ABCA4):c.4436G>A (p.Trp1479Ter)
|
rs61752434
|
0.00001
|
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)
|
rs61750146
|
0.00001
|
NM_000350.3(ABCA4):c.4463G>T (p.Cys1488Phe)
|
rs61750147
|
0.00001
|
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter)
|
rs62646861
|
0.00001
|
NM_000350.3(ABCA4):c.4748T>C (p.Leu1583Pro)
|
rs61750153
|
0.00001
|
NM_000350.3(ABCA4):c.4765G>A (p.Val1589Met)
|
rs767980304
|
0.00001
|
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)
|
rs61751403
|
0.00001
|
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg)
|
rs61753017
|
0.00001
|
NM_000350.3(ABCA4):c.4978C>T (p.Pro1660Ser)
|
rs1211325812
|
0.00001
|
NM_000350.3(ABCA4):c.5018+2T>C
|
rs61750562
|
0.00001
|
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp)
|
rs771038310
|
0.00001
|
NM_000350.3(ABCA4):c.5137C>A (p.Gln1713Lys)
|
rs374343397
|
0.00001
|
NM_000350.3(ABCA4):c.5196+1G>A
|
rs61751377
|
0.00001
|
NM_000350.3(ABCA4):c.5209G>A (p.Val1737Met)
|
rs761017794
|
0.00001
|
NM_000350.3(ABCA4):c.5312+1G>A
|
rs886044750
|
0.00001
|
NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter)
|
rs61750571
|
0.00001
|
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val)
|
rs760549861
|
0.00001
|
NM_000350.3(ABCA4):c.5327C>T (p.Pro1776Leu)
|
rs1553187939
|
0.00001
|
NM_000350.3(ABCA4):c.5383T>G (p.Leu1795Val)
|
rs1188515677
|
0.00001
|
NM_000350.3(ABCA4):c.5463G>A (p.Thr1821=)
|
rs367857935
|
0.00001
|
NM_000350.3(ABCA4):c.5549T>C (p.Leu1850Pro)
|
rs377311148
|
0.00001
|
NM_000350.3(ABCA4):c.5572T>A (p.Tyr1858Asn)
|
rs371489809
|
0.00001
|
NM_000350.3(ABCA4):c.5774G>T (p.Arg1925Ile)
|
rs1208195953
|
0.00001
|
NM_000350.3(ABCA4):c.5973G>C (p.Val1991=)
|
rs886044757
|
0.00001
|
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)
|
rs61751383
|
0.00001
|
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter)
|
rs61753038
|
0.00001
|
NM_000350.3(ABCA4):c.6122G>A (p.Gly2041Asp)
|
rs1462350577
|
0.00001
|
NM_000350.3(ABCA4):c.6230G>A (p.Arg2077Gln)
|
rs886044759
|
0.00001
|
NM_000350.3(ABCA4):c.6282+1G>C
|
rs770453727
|
0.00001
|
NM_000350.3(ABCA4):c.6342G>A (p.Val2114=)
|
rs61748520
|
0.00001
|
NM_000350.3(ABCA4):c.6386+2C>G
|
rs61753043
|
0.00001
|
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter)
|
rs61750654
|
0.00001
|
NM_000350.3(ABCA4):c.6563T>C (p.Phe2188Ser)
|
rs61750658
|
0.00001
|
NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys)
|
rs61748538
|
0.00001
|
NM_000350.3(ABCA4):c.6805C>T (p.Arg2269Ter)
|
rs372234578
|
0.00001
|
NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp)
|
rs781716640
|
0.00001
|
NM_006017.3(PROM1):c.*198T>C
|
rs1713762475
|
0.00001
|
NM_006017.3(PROM1):c.*681C>G
|
rs947805890
|
0.00001
|
NM_006017.3(PROM1):c.*781G>A
|
rs1713636052
|
0.00001
|
NM_006017.3(PROM1):c.*963A>G
|
rs886059196
|
0.00001
|
NM_006017.3(PROM1):c.*985C>G
|
rs937617123
|
0.00001
|
NM_006017.3(PROM1):c.-148G>A
|
rs75531222
|
0.00001
|
NM_006017.3(PROM1):c.1002+5G>A
|
rs1196489060
|
0.00001
|
NM_006017.3(PROM1):c.1142-1G>A
|
rs752619497
|
0.00001
|
NM_006017.3(PROM1):c.1157T>A (p.Leu386Ter)
|
rs886037880
|
0.00001
|
NM_006017.3(PROM1):c.1387T>C (p.Tyr463His)
|
rs1297490531
|
0.00001
|
NM_006017.3(PROM1):c.1578+9G>C
|
rs747638667
|
0.00001
|
NM_006017.3(PROM1):c.1710C>T (p.Tyr570=)
|
rs201644238
|
0.00001
|
NM_006017.3(PROM1):c.1717C>T (p.Leu573Phe)
|
rs886059201
|
0.00001
|
NM_006017.3(PROM1):c.1738A>C (p.Asn580His)
|
rs199674847
|
0.00001
|
NM_006017.3(PROM1):c.1984-1G>T
|
rs373680665
|
0.00001
|
NM_006017.3(PROM1):c.2309C>A (p.Pro770His)
|
rs568361529
|
0.00001
|
NM_006017.3(PROM1):c.2327A>T (p.Asp776Val)
|
rs1033920857
|
0.00001
|
NM_006017.3(PROM1):c.2397A>G (p.Gly799=)
|
rs931618095
|
0.00001
|
NM_006017.3(PROM1):c.2551G>A (p.Val851Ile)
|
rs201910962
|
0.00001
|
NM_006017.3(PROM1):c.400C>T (p.Arg134Cys)
|
rs768526003
|
0.00001
|
NM_006017.3(PROM1):c.677C>T (p.Ala226Val)
|
rs376198840
|
0.00001
|
NM_006017.3(PROM1):c.706G>A (p.Val236Met)
|
rs536161084
|
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.1160A>G (p.Tyr387Cys)
|
rs886063160
|
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.168G>C (p.Lys56Asn)
|
rs1410218983
|
0.00001
|
NM_019098.5(CNGB3):c.2350C>T (p.Leu784Phe)
|
rs750535143
|
0.00001
|
NM_019098.5(CNGB3):c.460G>T (p.Asp154Tyr)
|
rs1823848358
|
0.00001
|
NM_019098.5(CNGB3):c.644-1G>C
|
rs201794629
|
0.00001
|
NM_019098.5(CNGB3):c.738C>T (p.Thr246=)
|
rs781628736
|
0.00001
|
NM_019098.5(CNGB3):c.773T>C (p.Ile258Thr)
|
rs886063162
|
0.00001
|
NM_022726.4(ELOVL4):c.*125C>A
|
rs181283522
|
0.00001
|
NM_022726.4(ELOVL4):c.*240C>T
|
rs886061801
|
0.00001
|
NM_022726.4(ELOVL4):c.*309T>C
|
rs1034507611
|
0.00001
|
NM_022726.4(ELOVL4):c.*363G>A
|
rs1376229769
|
0.00001
|
NM_022726.4(ELOVL4):c.*606G>T
|
rs907879501
|
0.00001
|
NM_022726.4(ELOVL4):c.*803T>C
|
rs542722575
|
0.00001
|
NM_022726.4(ELOVL4):c.*905T>C
|
rs886061799
|
0.00001
|
NM_022726.4(ELOVL4):c.*950T>C
|
rs1458099165
|
0.00001
|
NM_022726.4(ELOVL4):c.*999A>G
|
rs1172216845
|
0.00001
|
NM_022726.4(ELOVL4):c.192A>C (p.Pro64=)
|
rs201014417
|
0.00001
|
NM_022726.4(ELOVL4):c.735A>G (p.Lys245=)
|
rs769435926
|
0.00001
|
NM_201548.5(CERKL):c.678-1G>A
|
rs1209393896
|
0.00001
|
NM_000322.5(PRPH2):c.113del (p.Gly38fs)
|
rs61755769
|
|
NM_000322.5(PRPH2):c.163del (p.Ser55fs)
|
rs1761917286
|
|
NM_000322.5(PRPH2):c.246C>A (p.Cys82Ter)
|
rs1242862941
|
|
NM_000322.5(PRPH2):c.259_266del (p.Asp87fs)
|
rs1554270834
|
|
NM_000322.5(PRPH2):c.310_313del (p.Ile104fs)
|
rs1761913253
|
|
NM_000322.5(PRPH2):c.318del (p.Leu107fs)
|
rs1761913048
|
|
NM_000322.5(PRPH2):c.394del (p.Gln132fs)
|
rs769723975
|
|
NM_000322.5(PRPH2):c.403A>G (p.Lys135Glu)
|
rs1761910611
|
|
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys)
|
rs61755781
|
|
NM_000322.5(PRPH2):c.441del (p.Gly148fs)
|
rs61755784
|
|
NM_000322.5(PRPH2):c.458A>C (p.Lys153Thr)
|
rs61755785
|
|
NM_000322.5(PRPH2):c.458AGA[1] (p.Lys154del)
|
rs61755786
|
|
NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn)
|
rs61755787
|
|
NM_000322.5(PRPH2):c.478C>T (p.Gln160Ter)
|
rs1582780550
|
|
NM_000322.5(PRPH2):c.483C>G (p.Ile161Met)
|
rs76989855
|
|
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser)
|
rs527236098
|
|
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)
|
rs61755792
|
|
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)
|
rs61755793
|
|
NM_000322.5(PRPH2):c.582-1G>A
|
rs1800118693
|
|
NM_000322.5(PRPH2):c.588_589dup (p.Lys197fs)
|
rs1800118385
|
|
NM_000322.5(PRPH2):c.612C>A (p.Tyr204Ter)
|
rs1554269081
|
|
NM_000322.5(PRPH2):c.614T>C (p.Leu205Pro)
|
rs1800117244
|
|
NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg)
|
rs61755798
|
|
NM_000322.5(PRPH2):c.638G>C (p.Cys213Ser)
|
rs61755803
|
|
NM_000322.5(PRPH2):c.642C>A (p.Cys214Ter)
|
rs1388865786
|
|
NM_000322.5(PRPH2):c.653C>T (p.Ser218Leu)
|
rs986748364
|
|
NM_000322.5(PRPH2):c.665G>A (p.Cys222Tyr)
|
rs1442844778
|
|
NM_000322.5(PRPH2):c.708C>G (p.Tyr236Ter)
|
rs61755813
|
|
NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter)
|
rs61755814
|
|
NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly)
|
rs542296728
|
|
NM_000322.5(PRPH2):c.748T>A (p.Cys250Ser)
|
rs1064793931
|
|
NM_000322.5(PRPH2):c.828+2T>C
|
rs1800108496
|
|
NM_000322.5(PRPH2):c.961G>T (p.Glu321Ter)
|
rs749391375
|
|
NM_000350.2(ABCA4):c.3210_3211insGT (p.Ser1071Valfs)
|
rs61750064
|
|
NM_000350.2(ABCA4):c.571_580dup
|
rs1662216783
|
|
NM_000350.2(ABCA4):c.[1622T>C;3113C>T]
|
|
|
NM_000350.2(ABCA4):c.[1A>G;6089G>A]
|
|
|
NM_000350.2(ABCA4):c.[2588G>C;3289A>T]
|
|
|
NM_000350.2(ABCA4):c.[2588G>C;5153T>G]
|
|
|
NM_000350.2(ABCA4):c.[2588G>C];[5882G>A]
|
|
|
NM_000350.2(ABCA4):c.[302+68C>T;4539+2028C>T]
|
|
|
NM_000350.2(ABCA4):c.[5381C>A;6148G>C]
|
|
|
NM_000350.2(ABCA4):c.[5512C>G;5882G>A]
|
|
|
NM_000350.2:c.(2918+765_2918+775)_(3328+618_3328+662)del
|
|
|
NM_000350.2:c.(6816+1_6817-1)_(*1_?)del
|
|
|
NM_000350.3(ABCA4):c.1018T>G (p.Tyr340Asp)
|
rs61748548
|
|
NM_000350.3(ABCA4):c.1025_1038del (p.Asp342fs)
|
rs63749083
|
|
NM_000350.3(ABCA4):c.1086T>A (p.Tyr362Ter)
|
rs61752390
|
|
NM_000350.3(ABCA4):c.1172del (p.Lys391fs)
|
rs1570407032
|
|
NM_000350.3(ABCA4):c.1201A>T (p.Thr401Ser)
|
rs559674920
|
|
NM_000350.3(ABCA4):c.122G>A (p.Trp41Ter)
|
rs61751410
|
|
NM_000350.3(ABCA4):c.1240-65del
|
rs3215952
|
|
NM_000350.3(ABCA4):c.1248_1554+248del
|
|
|
NM_000350.3(ABCA4):c.1254T>A (p.Phe418Leu)
|
|
|
NM_000350.3(ABCA4):c.1267_1268inv (p.His423Cys)
|
|
|
NM_000350.3(ABCA4):c.1344del (p.Met448fs)
|
rs61748554
|
|
NM_000350.3(ABCA4):c.1356+4dup
|
rs1661600677
|
|
NM_000350.3(ABCA4):c.1357-2A>G
|
rs886044726
|
|
NM_000350.3(ABCA4):c.1391T>A (p.Leu464Ter)
|
rs2101101348
|
|
NM_000350.3(ABCA4):c.1454del (p.Gly485fs)
|
rs1661577361
|
|
NM_000350.3(ABCA4):c.1508T>C (p.Phe503Ser)
|
|
|
NM_000350.3(ABCA4):c.1555-2A>C
|
rs2101079462
|
|
NM_000350.3(ABCA4):c.160+2T>C
|
rs886044721
|
|
NM_000350.3(ABCA4):c.160T>G (p.Cys54Gly)
|
rs886044720
|
|
NM_000350.3(ABCA4):c.161G>T (p.Cys54Phe)
|
rs150774447
|
|
NM_000350.3(ABCA4):c.1621_1622del (p.Leu541fs)
|
rs1553192715
|
|
NM_000350.3(ABCA4):c.1645G>A (p.Ala549Thr)
|
rs61748557
|
|
NM_000350.3(ABCA4):c.1719G>A (p.Met573Ile)
|
rs886044728
|
|
NM_000350.3(ABCA4):c.173A>T (p.Asn58Ile)
|
|
|
NM_000350.3(ABCA4):c.1742C>A (p.Thr581Asn)
|
rs1661175744
|
|
NM_000350.3(ABCA4):c.1749_1750del (p.Lys583fs)
|
rs2101079015
|
|
NM_000350.3(ABCA4):c.1758C>A (p.Asp586Glu)
|
rs1570393727
|
|
NM_000350.3(ABCA4):c.1760+2T>G
|
rs61751385
|
|
NM_000350.3(ABCA4):c.1789C>T (p.Pro597Ser)
|
rs61751393
|
|
NM_000350.3(ABCA4):c.1792G>A (p.Val598Met)
|
rs201838557
|
|
NM_000350.3(ABCA4):c.1793T>G (p.Val598Gly)
|
rs886044729
|
|
NM_000350.3(ABCA4):c.180G>C (p.Ala60=)
|
rs756647171
|
|
NM_000350.3(ABCA4):c.1820G>T (p.Gly607Val)
|
|
|
NM_000350.3(ABCA4):c.1846G>A (p.Glu616Lys)
|
rs1557787473
|
|
NM_000350.3(ABCA4):c.1891G>A (p.Gly631Arg)
|
rs886044730
|
|
NM_000350.3(ABCA4):c.1901T>C (p.Leu634Pro)
|
|
|
NM_000350.3(ABCA4):c.1918C>G (p.Pro640Ala)
|
rs766570903
|
|
NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu)
|
rs62654395
|
|
NM_000350.3(ABCA4):c.1958G>T (p.Arg653Leu)
|
rs141823837
|
|
NM_000350.3(ABCA4):c.1995C>A (p.Tyr665Ter)
|
rs757302286
|
|
NM_000350.3(ABCA4):c.2005_2006del (p.Met669fs)
|
rs61749422
|
|
NM_000350.3(ABCA4):c.203C>G (p.Pro68Arg)
|
rs62654397
|
|
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)
|
rs61749423
|
|
NM_000350.3(ABCA4):c.2069del (p.Gly690fs)
|
rs2101075191
|
|
NM_000350.3(ABCA4):c.206G>A (p.Trp69Ter)
|
rs886044722
|
|
NM_000350.3(ABCA4):c.2099G>T (p.Trp700Leu)
|
rs61749425
|
|
NM_000350.3(ABCA4):c.2105T>C (p.Leu702Pro)
|
|
|
NM_000350.3(ABCA4):c.2161-1G>A
|
rs1401924846
|
|
NM_000350.3(ABCA4):c.2292_2295delinsAGG (p.Cys764_Ser765delinsTer)
|
rs2101069758
|
|
NM_000350.3(ABCA4):c.2294G>A (p.Ser765Asn)
|
rs61749429
|
|
NM_000350.3(ABCA4):c.2327A>G (p.His776Arg)
|
|
|
NM_000350.3(ABCA4):c.2347C>T (p.Gln783Ter)
|
rs2101069632
|
|
NM_000350.3(ABCA4):c.2408del (p.Gly803fs)
|
rs1570386206
|
|
NM_000350.3(ABCA4):c.2424C>G (p.Tyr808Ter)
|
|
|
NM_000350.3(ABCA4):c.242G>C (p.Cys81Ser)
|
rs1570433137
|
|
NM_000350.3(ABCA4):c.2453G>C (p.Gly818Ala)
|
|
|
NM_000350.3(ABCA4):c.2461T>C (p.Trp821Arg)
|
rs61749433
|
|
NM_000350.3(ABCA4):c.2522_2530del (p.Gln841_Met843del)
|
|
|
NM_000350.3(ABCA4):c.2537A>G (p.Asp846Gly)
|
rs779466403
|
|
NM_000350.3(ABCA4):c.2565G>A (p.Trp855Ter)
|
rs61749438
|
|
NM_000350.3(ABCA4):c.2587+2T>C
|
rs1557783989
|
|
NM_000350.3(ABCA4):c.2653+2del
|
rs766646086
|
|
NM_000350.3(ABCA4):c.2680dup (p.Leu894fs)
|
rs1570380080
|
|
NM_000350.3(ABCA4):c.2692G>T (p.Glu898Ter)
|
rs61749441
|
|
NM_000350.3(ABCA4):c.2731_2732del (p.Glu911fs)
|
rs1660761326
|
|
NM_000350.3(ABCA4):c.2741_2742del (p.His914fs)
|
rs2101059717
|
|
NM_000350.3(ABCA4):c.2798A>T (p.Asn933Ile)
|
rs527236129
|
|
NM_000350.3(ABCA4):c.2807del (p.Lys936fs)
|
rs2101057370
|
|
NM_000350.3(ABCA4):c.2828G>T (p.Arg943Leu)
|
rs1801581
|
|
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp)
|
rs61748529
|
|
NM_000350.3(ABCA4):c.2873T>A (p.Ile958Asn)
|
rs754082669
|
|
NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala)
|
rs368846708
|
|
NM_000350.3(ABCA4):c.287del (p.Asn96fs)
|
rs1553196583
|
|
NM_000350.3(ABCA4):c.2888del (p.Gly963fs)
|
rs61752410
|
|
NM_000350.3(ABCA4):c.2895T>G (p.Asn965Lys)
|
rs1570377861
|
|
NM_000350.3(ABCA4):c.2908del (p.Thr970fs)
|
rs2101057076
|
|
NM_000350.3(ABCA4):c.2912C>A (p.Thr971Asn)
|
rs61749450
|
|
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn)
|
rs61749451
|
|
NM_000350.3(ABCA4):c.2918+1060G>T
|
rs763003887
|
|
NM_000350.3(ABCA4):c.2922_2949del (p.Ile975fs)
|
rs2101053587
|
|
NM_000350.3(ABCA4):c.2940G>C (p.Leu980Phe)
|
rs886044734
|
|
NM_000350.3(ABCA4):c.2947A>G (p.Thr983Ala)
|
rs1368508052
|
|
NM_000350.3(ABCA4):c.296dup (p.Asn99fs)
|
rs62645948
|
|
NM_000350.3(ABCA4):c.2T>C (p.Met1Thr)
|
|
|
NM_000350.3(ABCA4):c.3016G>C (p.Gly1006Arg)
|
rs1660620409
|
|
NM_000350.3(ABCA4):c.3081T>G (p.Tyr1027Ter)
|
rs1553190664
|
|
NM_000350.3(ABCA4):c.3083C>T (p.Ala1028Val)
|
rs121909204
|
|
NM_000350.3(ABCA4):c.3085C>T (p.Gln1029Ter)
|
rs61751397
|
|
NM_000350.3(ABCA4):c.3093del (p.Gly1032fs)
|
rs886044735
|
|
NM_000350.3(ABCA4):c.3179A>C (p.Gln1060Pro)
|
rs772663974
|
|
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs)
|
rs387906385
|
|
NM_000350.3(ABCA4):c.3261A>C (p.Glu1087Asp)
|
rs61752416
|
|
NM_000350.3(ABCA4):c.3263C>G (p.Pro1088Arg)
|
rs1660531525
|
|
NM_000350.3(ABCA4):c.3266C>A (p.Thr1089Asn)
|
rs2101050605
|
|
NM_000350.3(ABCA4):c.3272G>A (p.Gly1091Glu)
|
rs61752417
|
|
NM_000350.3(ABCA4):c.3296C>G (p.Ser1099Ter)
|
rs776773510
|
|
NM_000350.3(ABCA4):c.3304G>T (p.Asp1102Tyr)
|
rs138641544
|
|
NM_000350.3(ABCA4):c.3323G>T (p.Arg1108Leu)
|
rs61750121
|
|
NM_000350.3(ABCA4):c.3323del (p.Arg1108fs)
|
rs1660527879
|
|
NM_000350.3(ABCA4):c.3349A>C (p.Thr1117Pro)
|
rs2101048742
|
|
NM_000350.3(ABCA4):c.3377T>C (p.Leu1126Pro)
|
rs1047376
|
|
NM_000350.3(ABCA4):c.3380G>A (p.Gly1127Glu)
|
rs1570370929
|
|
NM_000350.3(ABCA4):c.3385C>G (p.Arg1129Gly)
|
rs779426136
|
|
NM_000350.3(ABCA4):c.3415T>G (p.Tyr1139Asp)
|
rs2101048577
|
|
NM_000350.3(ABCA4):c.3449_3451del (p.Cys1150del)
|
rs1570370826
|
|
NM_000350.3(ABCA4):c.3470T>G (p.Leu1157Ter)
|
rs2101048479
|
|
NM_000350.3(ABCA4):c.3529_3532dup (p.Ser1178fs)
|
rs886044736
|
|
NM_000350.3(ABCA4):c.3540del (p.Ser1181fs)
|
rs2101047075
|
|
NM_000350.3(ABCA4):c.3608-1G>A
|
|
|
NM_000350.3(ABCA4):c.3664_3669del (p.Val1222_Glu1223del)
|
rs1570367367
|
|
NM_000350.3(ABCA4):c.3698T>C (p.Leu1233Pro)
|
rs1366653130
|
|
NM_000350.3(ABCA4):c.36G>A (p.Trp12Ter)
|
rs761209432
|
|
NM_000350.3(ABCA4):c.3729T>A (p.Tyr1243Ter)
|
rs1570367230
|
|
NM_000350.3(ABCA4):c.3732del (p.Ser1245fs)
|
|
|
NM_000350.3(ABCA4):c.3767_3768dup (p.Leu1257fs)
|
rs1570367144
|
|
NM_000350.3(ABCA4):c.3808G>T (p.Glu1270Ter)
|
rs61752425
|
|
NM_000350.3(ABCA4):c.3812A>G (p.Glu1271Gly)
|
rs1660360744
|
|
NM_000350.3(ABCA4):c.3813G>A (p.Glu1271=)
|
rs886044737
|
|
NM_000350.3(ABCA4):c.3814-2A>T
|
rs1660350150
|
|
NM_000350.3(ABCA4):c.3815T>C (p.Ile1272Thr)
|
rs886044738
|
|
NM_000350.3(ABCA4):c.3862+1G>A
|
rs61751400
|
|
NM_000350.3(ABCA4):c.3871C>T (p.Gln1291Ter)
|
rs746541266
|
|
NM_000350.3(ABCA4):c.3898del (p.Arg1300fs)
|
|
|
NM_000350.3(ABCA4):c.3941C>T (p.Pro1314Leu)
|
rs2101037181
|
|
NM_000350.3(ABCA4):c.4003_4004del (p.Pro1335fs)
|
rs1571265241
|
|
NM_000350.3(ABCA4):c.4036_4037del (p.Thr1346fs)
|
rs61751401
|
|
NM_000350.3(ABCA4):c.4102C>T (p.Arg1368Cys)
|
rs1183074086
|
|
NM_000350.3(ABCA4):c.4108del (p.His1370fs)
|
rs1571265125
|
|
NM_000350.3(ABCA4):c.4128+1G>A
|
rs2101036750
|
|
NM_000350.3(ABCA4):c.4129-1G>A
|
rs1553189507
|
|
NM_000350.3(ABCA4):c.4192G>A (p.Gly1398Ser)
|
|
|
NM_000350.3(ABCA4):c.4195G>T (p.Glu1399Ter)
|
rs62642573
|
|
NM_000350.3(ABCA4):c.4222del (p.Trp1408fs)
|
rs1571264574
|
|
NM_000350.3(ABCA4):c.4243A>C (p.Thr1415Pro)
|
rs1571264551
|
|
NM_000350.3(ABCA4):c.4243dup (p.Thr1415fs)
|
|
|
NM_000350.3(ABCA4):c.4253+5G>T
|
rs61750138
|
|
NM_000350.3(ABCA4):c.4254-1G>A
|
rs886044740
|
|
NM_000350.3(ABCA4):c.4254-1G>C
|
rs886044740
|
|
NM_000350.3(ABCA4):c.428del (p.Pro143fs)
|
rs1662504407
|
|
NM_000350.3(ABCA4):c.4313C>A (p.Pro1438Gln)
|
|
|
NM_000350.3(ABCA4):c.4319T>C (p.Phe1440Ser)
|
rs61750141
|
|
NM_000350.3(ABCA4):c.4352+54A>G
|
rs547806
|
|
NM_000350.3(ABCA4):c.4354G>T (p.Glu1452Ter)
|
rs886044742
|
|
NM_000350.3(ABCA4):c.4383G>C (p.Trp1461Cys)
|
rs1347261858
|
|
NM_000350.3(ABCA4):c.442+2T>A
|
rs1662504014
|
|
NM_000350.3(ABCA4):c.443-2A>G
|
|
|
NM_000350.3(ABCA4):c.4463G>A (p.Cys1488Tyr)
|
rs61750147
|
|
NM_000350.3(ABCA4):c.452T>C (p.Ile151Thr)
|
rs1012017728
|
|
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs)
|
rs281865377
|
|
NM_000350.3(ABCA4):c.4539+2064C>T
|
rs1553189179
|
|
NM_000350.3(ABCA4):c.4539+2066C>G
|
rs1571261864
|
|
NM_000350.3(ABCA4):c.4540-1573C>T
|
|
|
NM_000350.3(ABCA4):c.4540-2036C>A
|
rs886044743
|
|
NM_000350.3(ABCA4):c.4567C>T (p.Gln1523Ter)
|
rs1553188916
|
|
NM_000350.3(ABCA4):c.4598T>C (p.Phe1533Ser)
|
rs1557770154
|
|
NM_000350.3(ABCA4):c.45G>A (p.Trp15Ter)
|
rs62645957
|
|
NM_000350.3(ABCA4):c.4609del (p.Thr1537fs)
|
rs1659998657
|
|
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=)
|
rs138475920
|
|
NM_000350.3(ABCA4):c.4635C>T (p.Ser1545=)
|
rs886044744
|
|
NM_000350.3(ABCA4):c.4640del (p.Lys1547fs)
|
rs886044745
|
|
NM_000350.3(ABCA4):c.4679T>A (p.Ile1560Asn)
|
rs1571258567
|
|
NM_000350.3(ABCA4):c.4720G>T (p.Glu1574Ter)
|
rs1282472315
|
|
NM_000350.3(ABCA4):c.4727T>G (p.Leu1576Arg)
|
rs1553188682
|
|
NM_000350.3(ABCA4):c.4734_4739del (p.Phe1579_Leu1580del)
|
rs1571258440
|
|
NM_000350.3(ABCA4):c.4734_4739delinsCC (p.Phe1579fs)
|
rs2101024039
|
|
NM_000350.3(ABCA4):c.4774-17_4774-16del
|
rs55860151
|
|
NM_000350.3(ABCA4):c.4774-9G>A
|
rs2101023661
|
|
NM_000350.3(ABCA4):c.4838del (p.Asp1613fs)
|
rs61752438
|
|
NM_000350.3(ABCA4):c.4842C>G (p.Asn1614Lys)
|
rs1265079301
|
|
NM_000350.3(ABCA4):c.4848+1G>T
|
rs1659900228
|
|
NM_000350.3(ABCA4):c.4854G>C (p.Trp1618Cys)
|
rs61752439
|
|
NM_000350.3(ABCA4):c.488_491del (p.Leu163fs)
|
rs747950242
|
|
NM_000350.3(ABCA4):c.4897G>A (p.Val1633Met)
|
|
|
NM_000350.3(ABCA4):c.4958G>A (p.Gly1653Glu)
|
rs1659888526
|
|
NM_000350.3(ABCA4):c.4979C>T (p.Pro1660Leu)
|
rs886044746
|
|
NM_000350.3(ABCA4):c.5012_5016del (p.Ile1671fs)
|
rs1571257754
|
|
NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del)
|
rs62646872
|
|
NM_000350.3(ABCA4):c.5059del (p.Ile1687fs)
|
rs1571256775
|
|
NM_000350.3(ABCA4):c.5065T>C (p.Ser1689Pro)
|
rs61753020
|
|
NM_000350.3(ABCA4):c.5088C>G (p.Ser1696Arg)
|
rs1435203678
|
|
NM_000350.3(ABCA4):c.5113C>G (p.Arg1705Gly)
|
|
|
NM_000350.3(ABCA4):c.5114G>T (p.Arg1705Leu)
|
rs61753021
|
|
NM_000350.3(ABCA4):c.5161_5162del (p.Thr1721fs)
|
rs61750566
|
|
NM_000350.3(ABCA4):c.5169C>G (p.Tyr1723Ter)
|
rs1437993640
|
|
NM_000350.3(ABCA4):c.5172G>A (p.Trp1724Ter)
|
rs1557767754
|
|
NM_000350.3(ABCA4):c.517dup (p.Leu173fs)
|
rs1662327418
|
|
NM_000350.3(ABCA4):c.5189G>A (p.Trp1730Ter)
|
rs886044747
|
|
NM_000350.3(ABCA4):c.5196+1013A>G
|
rs886044748
|
|
NM_000350.3(ABCA4):c.5196+1056A>G
|
rs886044749
|
|
NM_000350.3(ABCA4):c.5196+1136C>A
|
rs114147805
|
|
NM_000350.3(ABCA4):c.5196+2T>C
|
rs61751405
|
|
NM_000350.3(ABCA4):c.5278C>A (p.Leu1760Ile)
|
|
|
NM_000350.3(ABCA4):c.5285C>A (p.Ala1762Asp)
|
rs121909206
|
|
NM_000350.3(ABCA4):c.5288T>C (p.Leu1763Pro)
|
rs61753028
|
|
NM_000350.3(ABCA4):c.5311G>A (p.Gly1771Arg)
|
rs374015407
|
|
NM_000350.3(ABCA4):c.5351T>G (p.Leu1784Arg)
|
rs746252741
|
|
NM_000350.3(ABCA4):c.5363C>T (p.Pro1788Leu)
|
rs886044751
|
|
NM_000350.3(ABCA4):c.5371dup (p.Ala1791fs)
|
|
|
NM_000350.3(ABCA4):c.5377G>A (p.Val1793Met)
|
rs1659672463
|
|
NM_000350.3(ABCA4):c.5380G>C (p.Ala1794Pro)
|
rs1571252997
|
|
NM_000350.3(ABCA4):c.5453del (p.Asn1818fs)
|
rs2101013633
|
|
NM_000350.3(ABCA4):c.5460+1G>A
|
rs61753030
|
|
NM_000350.3(ABCA4):c.5460+2T>C
|
|
|
NM_000350.3(ABCA4):c.5461-1G>T
|
rs2101008577
|
|
NM_000350.3(ABCA4):c.5461-6T>C
|
rs1659543067
|
|
NM_000350.3(ABCA4):c.5512C>A (p.His1838Asn)
|
rs62642562
|
|
NM_000350.3(ABCA4):c.5512C>G (p.His1838Asp)
|
rs62642562
|
|
NM_000350.3(ABCA4):c.5513A>G (p.His1838Arg)
|
rs886044752
|
|
NM_000350.3(ABCA4):c.5516T>C (p.Phe1839Ser)
|
rs1297857869
|
|
NM_000350.3(ABCA4):c.5530G>T (p.Gly1844Cys)
|
rs2101008373
|
|
NM_000350.3(ABCA4):c.5558C>A (p.Ala1853Asp)
|
rs886044753
|
|
NM_000350.3(ABCA4):c.5584+6T>C
|
rs61750633
|
|
NM_000350.3(ABCA4):c.5637del (p.Phe1880fs)
|
|
|
NM_000350.3(ABCA4):c.5656G>A (p.Gly1886Arg)
|
rs886044754
|
|
NM_000350.3(ABCA4):c.5690_5704del (p.Gln1897_Phe1901del)
|
rs1659522195
|
|
NM_000350.3(ABCA4):c.5691G>T (p.Gln1897His)
|
rs771092150
|
|
NM_000350.3(ABCA4):c.570+1818G>T
|
|
|
NM_000350.3(ABCA4):c.571-2A>G
|
rs61748534
|
|
NM_000350.3(ABCA4):c.5714+103A>G
|
|
|
NM_000350.3(ABCA4):c.5714+1G>T
|
rs1232476760
|
|
NM_000350.3(ABCA4):c.5762_5763del (p.Val1921fs)
|
rs1659469884
|
|
NM_000350.3(ABCA4):c.5828T>C (p.Leu1943Pro)
|
rs886044755
|
|
NM_000350.3(ABCA4):c.5905G>A (p.Gly1969Ser)
|
|
|
NM_000350.3(ABCA4):c.5907CCT[3] (p.Leu1971_Gly1972insLeu)
|
rs1659430629
|
|
NM_000350.3(ABCA4):c.5909T>C (p.Leu1970Pro)
|
rs886044756
|
|
NM_000350.3(ABCA4):c.5912T>G (p.Leu1971Arg)
|
rs61753034
|
|
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)
|
rs61751389
|
|
NM_000350.3(ABCA4):c.5924G>T (p.Gly1975Val)
|
rs1659429594
|
|
NM_000350.3(ABCA4):c.5932A>G (p.Lys1978Glu)
|
rs1064793014
|
|
NM_000350.3(ABCA4):c.5936C>T (p.Thr1979Ile)
|
rs61753037
|
|
NM_000350.3(ABCA4):c.5942C>G (p.Thr1981Arg)
|
rs752147871
|
|
NM_000350.3(ABCA4):c.5959_5964delinsTG (p.Thr1986_Gly1987insTer)
|
rs1659427600
|
|
NM_000350.3(ABCA4):c.6006-16G>A
|
rs4147863
|
|
NM_000350.3(ABCA4):c.6007A>T (p.Ile2003Phe)
|
rs1170554250
|
|
NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro)
|
rs886044758
|
|
NM_000350.3(ABCA4):c.6077del (p.Leu2026fs)
|
rs1571245809
|
|
NM_000350.3(ABCA4):c.6098T>C (p.Leu2033Pro)
|
rs1553186896
|
|
NM_000350.3(ABCA4):c.6098T>G (p.Leu2033Arg)
|
rs1553186896
|
|
NM_000350.3(ABCA4):c.6104T>C (p.Leu2035Pro)
|
rs61750642
|
|
NM_000350.3(ABCA4):c.6113G>C (p.Arg2038Pro)
|
rs767729255
|
|
NM_000350.3(ABCA4):c.6146del (p.Lys2049fs)
|
rs1659351261
|
|
NM_000350.3(ABCA4):c.6148-698_6670del
|
|
|
NM_000350.3(ABCA4):c.6179T>G (p.Leu2060Arg)
|
rs61753039
|
|
NM_000350.3(ABCA4):c.6181_6184del (p.Thr2061fs)
|
rs1659200106
|
|
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg)
|
rs61748536
|
|
NM_000350.3(ABCA4):c.61C>T (p.Gln21Ter)
|
rs770272033
|
|
NM_000350.3(ABCA4):c.6221G>T (p.Gly2074Val)
|
rs367839100
|
|
NM_000350.3(ABCA4):c.6221del (p.Gly2074fs)
|
rs1571243037
|
|
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp)
|
rs61750645
|
|
NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs)
|
rs281865382
|
|
NM_000350.3(ABCA4):c.6283-3_6283-2delinsAG
|
rs886044760
|
|
NM_000350.3(ABCA4):c.6299G>A (p.Gly2100Glu)
|
rs2100994077
|
|
NM_000350.3(ABCA4):c.6308C>A (p.Pro2103His)
|
rs2100994049
|
|
NM_000350.3(ABCA4):c.6323_6331delinsGGC (p.Met2108_Asn2111delinsArgHis)
|
rs1659159979
|
|
NM_000350.3(ABCA4):c.6326T>C (p.Leu2109Pro)
|
rs886044761
|
|
NM_000350.3(ABCA4):c.6329G>A (p.Trp2110Ter)
|
rs62642565
|
|
NM_000350.3(ABCA4):c.6379T>C (p.Ser2127Pro)
|
rs2100993895
|
|
NM_000350.3(ABCA4):c.6401A>G (p.Glu2134Gly)
|
rs2100993742
|
|
NM_000350.3(ABCA4):c.6428T>A (p.Met2143Lys)
|
rs1659153516
|
|
NM_000350.3(ABCA4):c.6446G>C (p.Arg2149Pro)
|
rs61750655
|
|
NM_000350.3(ABCA4):c.6454G>A (p.Gly2152Ser)
|
|
|
NM_000350.3(ABCA4):c.6454G>T (p.Gly2152Cys)
|
rs1571241947
|
|
NM_000350.3(ABCA4):c.6471del (p.Lys2158fs)
|
rs1373168392
|
|
NM_000350.3(ABCA4):c.6478A>G (p.Lys2160Glu)
|
rs1571241930
|
|
NM_000350.3(ABCA4):c.6515A>G (p.Lys2172Arg)
|
rs886044762
|
|
NM_000350.3(ABCA4):c.6609C>A (p.Tyr2203Ter)
|
rs61753045
|
|
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)
|
rs61753046
|
|
NM_000350.3(ABCA4):c.666_678del (p.Lys223fs)
|
rs63749055
|
|
NM_000350.3(ABCA4):c.6698A>T (p.Glu2233Val)
|
rs2100987881
|
|
NM_000350.3(ABCA4):c.67-1G>C
|
rs778908435
|
|
NM_000350.3(ABCA4):c.67-2A>G
|
rs398123339
|
|
NM_000350.3(ABCA4):c.6713A>G (p.Gln2238Arg)
|
rs886044764
|
|
NM_000350.3(ABCA4):c.6729+5_6729+19del
|
rs749526785
|
|
NM_000350.3(ABCA4):c.6731T>A (p.Val2244Glu)
|
rs1658995249
|
|
NM_000350.3(ABCA4):c.676C>A (p.Arg226Ser)
|
rs149780335
|
|
NM_000350.3(ABCA4):c.6816+2T>A
|
rs112005636
|
|
NM_000350.3(ABCA4):c.689G>T (p.Cys230Phe)
|
|
|
NM_000350.3(ABCA4):c.758T>A (p.Leu253His)
|
rs2101135424
|
|
NM_000350.3(ABCA4):c.768+1G>A
|
|
|
NM_000350.3(ABCA4):c.834del (p.Asp279fs)
|
rs779743222
|
|
NM_000350.3(ABCA4):c.859-13T>C
|
rs1246188478
|
|
NM_000350.3(ABCA4):c.86T>G (p.Leu29Arg)
|
rs886044719
|
|
NM_000350.3(ABCA4):c.956T>G (p.Leu319Arg)
|
rs886044723
|
|
NM_000350.3(ABCA4):c.982G>T (p.Glu328Ter)
|
rs61751418
|
|
NM_000350.3(ABCA4):c.[1610G>A;5603A>T]
|
|
|
NM_000350.3(ABCA4):c.[2588G>C;5603A>T]
|
|
|
NM_000350.3(ABCA4):c.[3322C>T;6320G>A]
|
|
|
NM_000350.3(ABCA4):c.[52C>T;5603A>T]
|
|
|
NM_000350.3(ABCA4):c.[5461-10T>C;5603A>T]
|
|
|
NM_000350.3(ABCA4):c.[5603A>T;5714+5G>A]
|
|
|
NM_000350.3:c.1876_1999del
|
|
|
NM_000554.6(CRX):c.381dup (p.Ser128fs)
|
rs1599991268
|
|
NM_000554.6(CRX):c.590del (p.Pro197fs)
|
rs1968169100
|
|
NM_000554.6(CRX):c.827G>A (p.Trp276Ter)
|
rs1599992622
|
|
NM_001029883.3(PCARE):c.947del (p.Asn316fs)
|
rs779886453
|
|
NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr)
|
rs559155109
|
|
NM_001844.5(COL2A1):c.1527+135G>A
|
rs1592218346
|
|
NM_003322.6(TULP1):c.1201C>T (p.Gln401Ter)
|
rs1761021773
|
|
NM_004183.4(BEST1):c.1030C>T (p.Gln344Ter)
|
rs1591303900
|
|
NM_004183.4(BEST1):c.1566_1576dup (p.His526delinsProTer)
|
rs1389863115
|
|
NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys)
|
rs727503824
|
|
NM_004183.4(BEST1):c.95T>C (p.Leu32Pro)
|
rs1591266591
|
|
NM_006017.3(PROM1):c.*107G>T
|
rs1024479425
|
|
NM_006017.3(PROM1):c.*1143A>C
|
rs544424652
|
|
NM_006017.3(PROM1):c.*1160A>G
|
rs886059194
|
|
NM_006017.3(PROM1):c.*551A>T
|
rs886059197
|
|
NM_006017.3(PROM1):c.*640T>A
|
rs1713667197
|
|
NM_006017.3(PROM1):c.1036A>G (p.Asn346Asp)
|
rs1414948996
|
|
NM_006017.3(PROM1):c.105A>G (p.Glu35=)
|
rs886059205
|
|
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)
|
rs137853006
|
|
NM_006017.3(PROM1):c.1218C>G (p.Leu406=)
|
rs886059203
|
|
NM_006017.3(PROM1):c.1271T>C (p.Leu424Ser)
|
rs886059202
|
|
NM_006017.3(PROM1):c.1279T>A (p.Leu427Met)
|
rs200710798
|
|
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)
|
rs543698823
|
|
NM_006017.3(PROM1):c.1424T>A (p.Val475Asp)
|
rs2149234796
|
|
NM_006017.3(PROM1):c.1579-3T>G
|
rs1355865032
|
|
NM_006017.3(PROM1):c.158G>A (p.Gly53Asp)
|
rs755064227
|
|
NM_006017.3(PROM1):c.1871G>A (p.Cys624Tyr)
|
rs886059200
|
|
NM_006017.3(PROM1):c.1954T>G (p.Tyr652Asp)
|
rs768320190
|
|
NM_006017.3(PROM1):c.2023C>T (p.Gln675Ter)
|
rs1324631413
|
|
NM_006017.3(PROM1):c.2050C>G (p.Arg684Gly)
|
rs530749007
|
|
NM_006017.3(PROM1):c.2094C>A (p.Ser698Arg)
|
rs199727800
|
|
NM_006017.3(PROM1):c.2281-5C>G
|
rs777654968
|
|
NM_006017.3(PROM1):c.2373+13C>G
|
rs886059199
|
|
NM_006017.3(PROM1):c.2480T>C (p.Val827Ala)
|
rs886059198
|
|
NM_006017.3(PROM1):c.2489+8T>C
|
rs1433533825
|
|
NM_006017.3(PROM1):c.2508G>A (p.Met836Ile)
|
rs534529507
|
|
NM_006017.3(PROM1):c.250T>A (p.Tyr84Asn)
|
rs1734560540
|
|
NM_006017.3(PROM1):c.380G>T (p.Gly127Val)
|
rs1733212554
|
|
NM_006017.3(PROM1):c.734T>C (p.Leu245Pro)
|
rs1730403199
|
|
NM_006017.3(PROM1):c.784+1G>A
|
rs745704627
|
|
NM_014014.5(SNRNP200):c.210-5A>G
|
rs745775178
|
|
NM_014053.4(FLVCR1):c.1557_1561del (p.Asn519fs)
|
rs748989557
|
|
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.[1193A>G];[1208G>A]
|
|
|
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.1178+9T>C
|
rs549858104
|
|
NM_019098.5(CNGB3):c.1347A>T (p.Thr449=)
|
rs768959472
|
|
NM_019098.5(CNGB3):c.1714C>G (p.Leu572Val)
|
rs771889150
|
|
NM_019098.5(CNGB3):c.1773A>G (p.Gly591=)
|
rs1822365271
|
|
NM_019098.5(CNGB3):c.1781+1G>T
|
rs1375507464
|
|
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[1] (p.720QKENEDK[1])
|
rs746549330
|
|
NM_019098.5(CNGB3):c.2423A>C (p.Lys808Thr)
|
rs1821645749
|
|
NM_019098.5(CNGB3):c.331C>G (p.Pro111Ala)
|
rs778184687
|
|
NM_019098.5(CNGB3):c.387T>G (p.Asp129Glu)
|
rs758681401
|
|
NM_019098.5(CNGB3):c.473C>T (p.Pro158Leu)
|
rs1456633980
|
|
NM_019098.5(CNGB3):c.989A>G (p.Lys330Arg)
|
rs1823317372
|
|
NM_022726.4(ELOVL4):c.*1038A>G
|
rs578261043
|
|
NM_022726.4(ELOVL4):c.*1241T>G
|
rs1582042288
|
|
NM_022726.4(ELOVL4):c.*1423A>G
|
rs1774136809
|
|
NM_022726.4(ELOVL4):c.*163C>T
|
rs945949866
|
|
NM_022726.4(ELOVL4):c.*360A>G
|
rs537318852
|
|
NM_022726.4(ELOVL4):c.*373A>T
|
rs886061800
|
|
NM_022726.4(ELOVL4):c.-125C>G
|
rs886061803
|
|
NM_022726.4(ELOVL4):c.-1G>A
|
rs1330070846
|
|
NM_022726.4(ELOVL4):c.-236C>G
|
rs240307
|
|
NM_022726.4(ELOVL4):c.-248G>A
|
rs886061805
|
|
NM_022726.4(ELOVL4):c.-252G>A
|
rs539142746
|
|
NM_022726.4(ELOVL4):c.-258C>T
|
rs886061806
|
|
NM_022726.4(ELOVL4):c.-262A>G
|
rs886061807
|
|
NM_022726.4(ELOVL4):c.-90G>C
|
rs62407622
|
|
NM_022726.4(ELOVL4):c.101-6C>G
|
rs1774344408
|
|
NM_022726.4(ELOVL4):c.215del (p.Pro72fs)
|
rs746047636
|
|
NM_022726.4(ELOVL4):c.502T>C (p.Leu168=)
|
rs886061802
|
|
NM_022726.4(ELOVL4):c.504G>C (p.Leu168Phe)
|
rs587777598
|
|
NM_022726.4(ELOVL4):c.789_793delinsAAC (p.Asn264fs)
|
rs587776613
|
|
NM_022726.4(ELOVL4):c.790_794del (p.Asn264fs)
|
rs1131690770
|
|
NM_022726.4(ELOVL4):c.810C>G (p.Tyr270Ter)
|
rs104893946
|
|
NM_130837.3(OPA1):c.800_801del (p.Lys267fs)
|
rs794727804
|
|
NM_152443.3(RDH12):c.607A>G (p.Ser203Gly)
|
rs2140145566
|
|
NM_198506.5(LRIT3):c.277G>T (p.Val93Leu)
|
rs1479270315
|
|
NM_198506.5(LRIT3):c.59_61del (p.Leu20del)
|
|
|
NM_201253.3(CRB1):c.3172G>T (p.Glu1058Ter)
|
rs564754426
|
|
NM_201253.3(CRB1):c.849-26A>G
|
rs1558070004
|
|
Single allele
|
|
|