NM_000843.4(GRM6):c.1131C>T (p.Asp377=)
|
rs2071246
|
0.74455
|
NM_014336.5(AIPL1):c.651A>G (p.Pro217=)
|
rs2292546
|
0.73525
|
NM_000350.3(ABCA4):c.5585-70C>T
|
rs537831
|
0.65778
|
NM_000350.3(ABCA4):c.4773+48C>T
|
rs472908
|
0.62724
|
NM_000843.4(GRM6):c.1500+23A>G
|
rs2256966
|
0.57932
|
NM_000843.4(GRM6):c.176A>C (p.Gln59Pro)
|
rs2645329
|
0.57334
|
NM_000843.4(GRM6):c.1392A>G (p.Gly464=)
|
rs11746675
|
0.57251
|
NM_014336.5(AIPL1):c.277-10A>C
|
rs12453262
|
0.52383
|
NM_000843.4(GRM6):c.1353T>C (p.Asn451=)
|
rs2067011
|
0.50613
|
NM_000843.4(GRM6):c.1227C>T (p.Tyr409=)
|
rs2645339
|
0.49941
|
NM_020366.4(RPGRIP1):c.574A>G (p.Lys192Glu)
|
rs6571751
|
0.48811
|
NM_000350.3(ABCA4):c.302+26A>G
|
rs2297634
|
0.48752
|
NM_004183.4(BEST1):c.109T>C (p.Leu37=)
|
rs1800007
|
0.48331
|
NM_000350.3(ABCA4):c.1240-14C>T
|
rs4147830
|
0.47169
|
NM_004183.4(BEST1):c.1608T>C (p.Thr536=)
|
rs1800009
|
0.41922
|
NM_000843.4(GRM6):c.2436+55G>A
|
rs2071248
|
0.39006
|
NM_003322.6(TULP1):c.776T>C (p.Ile259Thr)
|
rs2064317
|
0.36637
|
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser)
|
rs61749665
|
0.29501
|
NM_000350.3(ABCA4):c.6285T>C (p.Asp2095=)
|
rs1801555
|
0.27862
|
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg)
|
rs3112831
|
0.25928
|
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)
|
rs1042602
|
0.24593
|
NM_000350.3(ABCA4):c.769-32T>C
|
rs526016
|
0.24162
|
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=)
|
rs1801574
|
0.23813
|
NM_000350.3(ABCA4):c.1761-54G>A
|
rs4147833
|
0.23727
|
NM_020366.4(RPGRIP1):c.1797G>A (p.Pro599=)
|
rs9322965
|
0.22187
|
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser)
|
rs10151259
|
0.21790
|
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=)
|
rs4147857
|
0.20473
|
NM_000350.3(ABCA4):c.5715-25A>C
|
rs4147856
|
0.20432
|
NM_000350.3(ABCA4):c.5836-11G>A
|
rs1800739
|
0.20309
|
NM_014336.5(AIPL1):c.268G>C (p.Asp90His)
|
rs12449580
|
0.19586
|
NM_000843.4(GRM6):c.2196G>A (p.Thr732=)
|
rs2071247
|
0.18181
|
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)
|
rs1126809
|
0.18094
|
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile)
|
rs6666652
|
0.17582
|
NM_000372.2(TYR):c.-199C>A
|
rs1799989
|
0.16584
|
NM_020366.4(RPGRIP1):c.525A>G (p.Pro175=)
|
rs17792599
|
0.16008
|
NM_000329.3(RPE65):c.1056G>A (p.Glu352=)
|
rs12145904
|
0.15903
|
NM_004183.4(BEST1):c.1557C>T (p.Ser519=)
|
rs1800008
|
0.15775
|
NM_000350.3(ABCA4):c.6730-3T>C
|
rs1800717
|
0.15096
|
NM_000554.6(CRX):c.100+12C>T
|
rs62128766
|
0.14108
|
NM_001034853.2(RPGR):c.1245+16A>G
|
rs5918522
|
0.13807
|
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=)
|
rs1801359
|
0.13311
|
NM_000350.3(ABCA4):c.6282+7G>A
|
rs17110761
|
0.13306
|
NM_000180.4(GUCY2D):c.2576+37G>T
|
rs12103471
|
0.12387
|
NM_025114.4(CEP290):c.2055T>C (p.Ala685=)
|
rs45465996
|
0.11965
|
NM_001034853.2(RPGR):c.1164G>A (p.Ala388=)
|
rs1801686
|
0.11812
|
NM_000180.4(GUCY2D):c.2109G>A (p.Ala703=)
|
rs56130505
|
0.11446
|
NM_004183.4(BEST1):c.219C>A (p.Ile73=)
|
rs1109748
|
0.10271
|
NM_000180.4(GUCY2D):c.61T>C (p.Trp21Arg)
|
rs9905402
|
0.09880
|
NM_001034853.2(RPGR):c.1697G>A (p.Gly566Glu)
|
rs1801688
|
0.09526
|
NM_000350.3(ABCA4):c.1269C>T (p.His423=)
|
rs4147831
|
0.09402
|
NM_001034853.2(RPGR):c.1572+11A>G
|
rs62635008
|
0.09352
|
NM_001034853.2(RPGR):c.1507-97T>C
|
rs62635007
|
0.09306
|
NM_001034853.2(RPGR):c.1274G>A (p.Arg425Lys)
|
rs1801687
|
0.09261
|
NM_004744.5(LRAT):c.342G>A (p.Glu114=)
|
rs17031981
|
0.09214
|
NM_000273.3(GPR143):c.360+13C>G
|
rs11095520
|
0.08633
|
NM_000330.4(RS1):c.330T>C (p.Cys110=)
|
rs1801161
|
0.06874
|
NM_000843.4(GRM6):c.2420C>T (p.Ala807Val)
|
rs17078874
|
0.06684
|
NM_001034853.2(RPGR):c.1291A>G (p.Ile431Val)
|
rs62635003
|
0.05955
|
NM_020366.4(RPGRIP1):c.287C>A (p.Pro96Gln)
|
rs1040904
|
0.05758
|
NM_014336.5(AIPL1):c.784+18G>A
|
rs7222126
|
0.05323
|
NM_000350.3(ABCA4):c.635G>A (p.Arg212His)
|
rs6657239
|
0.04939
|
NM_000350.3(ABCA4):c.2654-48G>C
|
rs12069723
|
0.04589
|
NM_000843.4(GRM6):c.2397C>T (p.Phe799=)
|
rs17078875
|
0.04568
|
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)
|
rs1801466
|
0.04126
|
NM_004183.4(BEST1):c.696C>A (p.Ile232=)
|
rs1805140
|
0.03928
|
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser)
|
rs34598902
|
0.03505
|
NM_000350.3(ABCA4):c.4254-38G>A
|
rs17110898
|
0.03389
|
NM_001034853.2(RPGR):c.620-41T>C
|
rs45486397
|
0.03373
|
NM_000843.4(GRM6):c.2437-6G>A
|
rs114970739
|
0.03215
|
NM_000843.4(GRM6):c.2134A>G (p.Met712Val)
|
rs17078877
|
0.03212
|
NM_000843.4(GRM6):c.2436+46A>C
|
rs17078872
|
0.03210
|
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu)
|
rs56142141
|
0.03191
|
NM_003322.6(TULP1):c.1362G>A (p.Thr454=)
|
rs41270076
|
0.03061
|
NM_000329.3(RPE65):c.1338+20A>C
|
rs12564647
|
0.03055
|
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_000350.3(ABCA4):c.3329-34A>G
|
rs11810336
|
0.02890
|
NM_004183.4(BEST1):c.1023C>T (p.Pro341=)
|
rs1801390
|
0.02837
|
NM_000554.6(CRX):c.472G>A (p.Ala158Thr)
|
rs61748445
|
0.02598
|
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=)
|
rs77293072
|
0.02574
|
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val)
|
rs34627040
|
0.02403
|
NM_014336.5(AIPL1):c.276+66G>C
|
rs117325136
|
0.02255
|
NM_014336.5(AIPL1):c.277-88C>T
|
rs75839062
|
0.02143
|
NM_000843.4(GRM6):c.504+66A>C
|
rs62638203
|
0.02083
|
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln)
|
rs61750129
|
0.02065
|
NM_001034853.2(RPGR):c.1598C>T (p.Thr533Met)
|
rs41312104
|
0.02014
|
NM_014336.5(AIPL1):c.111C>T (p.Phe37=)
|
rs11650007
|
0.02008
|
NM_004183.4(BEST1):c.201G>C (p.Leu67=)
|
rs1801393
|
0.01850
|
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile)
|
rs8069375
|
0.01781
|
NM_004183.4(BEST1):c.619C>A (p.Leu207Ile)
|
rs74653691
|
0.01704
|
NM_020366.4(RPGRIP1):c.3546C>T (p.Asp1182=)
|
rs34116882
|
0.01609
|
NM_000843.4(GRM6):c.1956C>T (p.Ala652=)
|
rs62638621
|
0.01532
|
NM_000180.4(GUCY2D):c.1724C>T (p.Pro575Leu)
|
rs28743021
|
0.01496
|
NM_000350.3(ABCA4):c.2964C>T (p.Leu988=)
|
rs61754034
|
0.01415
|
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile)
|
rs62619924
|
0.01285
|
NM_000350.3(ABCA4):c.141= (p.Pro47=)
|
rs4847281
|
0.01254
|
NM_000350.3(ABCA4):c.1761-50G>A
|
rs61754022
|
0.01220
|
NM_000843.4(GRM6):c.352C>A (p.Arg118Ser)
|
rs62638201
|
0.01102
|
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn)
|
rs1800555
|
0.01028
|
NM_000350.3(ABCA4):c.3051-14T>A
|
rs17110922
|
0.01008
|
NM_000350.3(ABCA4):c.6729+21C>T
|
rs1800699
|
0.00981
|
NM_020366.4(RPGRIP1):c.256C>T (p.Arg86Trp)
|
rs62646879
|
0.00919
|
NM_001034853.2(RPGR):c.1033A>G (p.Asn345Asp)
|
rs41305223
|
0.00731
|
NM_000843.4(GRM6):c.1566C>T (p.Cys522=)
|
rs62638209
|
0.00729
|
NM_000329.3(RPE65):c.399T>C (p.Leu133=)
|
rs59257923
|
0.00728
|
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)
|
rs62642564
|
0.00654
|
NM_014336.5(AIPL1):c.765T>C (p.Asp255=)
|
rs62637018
|
0.00643
|
NM_000554.6(CRX):c.365G>A (p.Gly122Asp)
|
rs61748441
|
0.00614
|
NM_000843.4(GRM6):c.1953C>T (p.Ala651=)
|
rs62638620
|
0.00587
|
NM_014336.5(AIPL1):c.277-14G>A
|
rs117749485
|
0.00585
|
NM_000843.4(GRM6):c.19G>A (p.Ala7Thr)
|
rs62642053
|
0.00533
|
NM_000554.6(CRX):c.724G>A (p.Val242Met)
|
rs61748459
|
0.00521
|
NM_000350.3(ABCA4):c.302+20C>T
|
rs61753050
|
0.00508
|
NM_000843.4(GRM6):c.2092C>G (p.Leu698Val)
|
rs62638623
|
0.00498
|
NM_000350.3(ABCA4):c.1761-37G>A
|
rs61754021
|
0.00491
|
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met)
|
rs61749417
|
0.00491
|
NM_000350.3(ABCA4):c.3523-28T>C
|
rs55896821
|
0.00489
|
NM_000350.3(ABCA4):c.4253+43G>A
|
rs61754045
|
0.00486
|
NM_000329.3(RPE65):c.1155G>A (p.Thr385=)
|
rs62653014
|
0.00481
|
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser)
|
rs61757484
|
0.00475
|
NM_014336.5(AIPL1):c.97-9G>A
|
rs140124986
|
0.00457
|
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
NM_000350.3(ABCA4):c.4668-38C>T
|
rs61754053
|
0.00423
|
NM_000322.5(PRPH2):c.133C>T (p.Leu45Phe)
|
rs61755770
|
0.00414
|
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala)
|
rs61749435
|
0.00385
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_014336.5(AIPL1):c.267C>T (p.Cys89=)
|
rs62653020
|
0.00366
|
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)
|
rs28938473
|
0.00362
|
NM_000350.3(ABCA4):c.4254-47T>C
|
rs56142328
|
0.00359
|
NM_000350.3(ABCA4):c.1878G>A (p.Ala626=)
|
rs61754023
|
0.00324
|
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)
|
rs41292677
|
0.00308
|
NM_000843.4(GRM6):c.1875C>T (p.Tyr625=)
|
rs62638215
|
0.00277
|
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_000350.3(ABCA4):c.1653G>A (p.Val551=)
|
rs61753963
|
0.00243
|
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr)
|
rs61752901
|
0.00232
|
NM_000554.6(CRX):c.196G>A (p.Val66Ile)
|
rs61748438
|
0.00231
|
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)
|
rs62646863
|
0.00222
|
NM_014336.5(AIPL1):c.516T>C (p.His172=)
|
rs62637017
|
0.00220
|
NM_201253.3(CRB1):c.2306G>A (p.Arg769His)
|
rs62636287
|
0.00208
|
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg)
|
rs61749455
|
0.00194
|
NM_001034853.2(RPGR):c.732G>A (p.Lys244=)
|
rs62638654
|
0.00191
|
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile)
|
rs56357060
|
0.00189
|
NM_000554.6(CRX):c.253-15G>A
|
rs145805694
|
0.00187
|
NM_000329.3(RPE65):c.978G>T (p.Val326=)
|
rs61752907
|
0.00186
|
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.1928T>G (p.Val643Gly)
|
rs61754024
|
0.00178
|
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)
|
rs61751374
|
0.00178
|
NM_000350.3(ABCA4):c.1610G>A (p.Arg537His)
|
rs61752395
|
0.00176
|
NM_000372.5(TYR):c.1366+4A>G
|
rs61754398
|
0.00175
|
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala)
|
rs61754030
|
0.00174
|
NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met)
|
rs1800549
|
0.00160
|
NM_000350.3(ABCA4):c.574G>A (p.Ala192Thr)
|
rs61748535
|
0.00158
|
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)
|
rs1800552
|
0.00153
|
NM_000843.4(GRM6):c.733A>G (p.Ile245Val)
|
rs62638207
|
0.00147
|
NM_004183.4(BEST1):c.637-6C>T
|
rs62639356
|
0.00147
|
NM_000843.4(GRM6):c.1732C>T (p.Arg578Cys)
|
rs62638210
|
0.00146
|
NM_000372.5(TYR):c.650G>A (p.Arg217Gln)
|
rs61754365
|
0.00143
|
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_000350.3(ABCA4):c.3191-20C>T
|
rs61754036
|
0.00130
|
NM_000843.4(GRM6):c.1944G>T (p.Ala648=)
|
rs62638619
|
0.00127
|
NM_004183.4(BEST1):c.624G>A (p.Gln208=)
|
rs150247275
|
0.00114
|
NM_000843.4(GRM6):c.1848C>T (p.Val616=)
|
rs62638213
|
0.00107
|
NM_003322.6(TULP1):c.1486G>A (p.Ala496Thr)
|
rs141980901
|
0.00107
|
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr)
|
rs61752878
|
0.00103
|
NM_014336.5(AIPL1):c.234C>T (p.Ser78=)
|
rs62635774
|
0.00102
|
NM_000180.4(GUCY2D):c.1236C>T (p.Asp412=)
|
rs61749678
|
0.00095
|
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_000322.5(PRPH2):c.866C>T (p.Ser289Leu)
|
rs62645939
|
0.00079
|
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His)
|
rs62636285
|
0.00078
|
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met)
|
rs61753019
|
0.00076
|
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu)
|
rs62637015
|
0.00067
|
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)
|
rs61748549
|
0.00066
|
NM_201253.3(CRB1):c.1647T>C (p.Asn549=)
|
rs62636283
|
0.00064
|
NM_000322.5(PRPH2):c.708C>T (p.Tyr236=)
|
rs61755813
|
0.00062
|
NM_000329.3(RPE65):c.48T>C (p.Phe16=)
|
rs62642581
|
0.00059
|
NM_000350.3(ABCA4):c.4352+13G>A
|
rs61754048
|
0.00059
|
NM_000180.4(GUCY2D):c.1537C>T (p.Leu513Phe)
|
rs61749682
|
0.00057
|
NM_000350.3(ABCA4):c.981C>T (p.Pro327=)
|
rs61753057
|
0.00054
|
NM_000322.5(PRPH2):c.249C>T (p.Tyr83=)
|
rs61755775
|
0.00053
|
NM_000372.5(TYR):c.1037-7T>A
|
rs61754381
|
0.00051
|
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)
|
rs61754388
|
0.00051
|
NM_004183.4(BEST1):c.1740-27T>C
|
rs62640569
|
0.00051
|
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr)
|
rs62645749
|
0.00049
|
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)
|
rs61750641
|
0.00048
|
NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys)
|
rs147192139
|
0.00047
|
NM_000350.3(ABCA4):c.5196+20G>A
|
rs55715124
|
0.00045
|
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu)
|
rs61748434
|
0.00044
|
NM_004183.4(BEST1):c.1699C>T (p.Leu567Phe)
|
rs148060787
|
0.00043
|
NM_000350.3(ABCA4):c.2877C>T (p.Thr959=)
|
rs61754033
|
0.00041
|
NM_000329.3(RPE65):c.644-42del
|
rs61752893
|
0.00039
|
NM_000350.3(ABCA4):c.926C>G (p.Pro309Arg)
|
rs61748545
|
0.00039
|
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter)
|
rs62637014
|
0.00038
|
NM_000843.4(GRM6):c.2341G>A (p.Glu781Lys)
|
rs62638625
|
0.00037
|
NM_000350.3(ABCA4):c.5714+5G>A
|
rs61751407
|
0.00036
|
NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys)
|
rs61750648
|
0.00034
|
NM_000843.4(GRM6):c.1766C>T (p.Pro589Leu)
|
rs62638212
|
0.00034
|
NM_001034853.2(RPGR):c.141T>G (p.Ser47=)
|
rs62638631
|
0.00034
|
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser)
|
rs61748532
|
0.00033
|
NM_000554.6(CRX):c.597C>T (p.Ser199=)
|
rs61748455
|
0.00033
|
NM_004183.4(BEST1):c.422G>A (p.Arg141His)
|
rs121918284
|
0.00033
|
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys)
|
rs61748442
|
0.00032
|
NM_000843.4(GRM6):c.261C>T (p.Pro87=)
|
rs62638199
|
0.00032
|
NM_000350.3(ABCA4):c.5461-10T>C
|
rs1800728
|
0.00031
|
NM_000273.3(GPR143):c.371A>G (p.Gln124Arg)
|
rs62635032
|
0.00029
|
NM_000372.5(TYR):c.140G>A (p.Gly47Asp)
|
rs61753180
|
0.00029
|
NM_000372.5(TYR):c.649C>T (p.Arg217Trp)
|
rs63159160
|
0.00029
|
NM_025114.4(CEP290):c.2991+1655A>G
|
rs281865192
|
0.00029
|
NM_000322.5(PRPH2):c.94A>G (p.Ile32Val)
|
rs61755767
|
0.00026
|
NM_201253.3(CRB1):c.1428C>T (p.Thr476=)
|
rs62636282
|
0.00025
|
NM_201253.3(CRB1):c.866C>T (p.Thr289Met)
|
rs62636263
|
0.00025
|
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met)
|
rs61752424
|
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_201253.3(CRB1):c.430T>G (p.Phe144Val)
|
rs62636262
|
0.00021
|
NM_000554.6(CRX):c.549G>A (p.Gly183=)
|
rs61748451
|
0.00020
|
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)
|
rs61750168
|
0.00019
|
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys)
|
rs61750120
|
0.00019
|
NM_000372.5(TYR):c.823G>T (p.Val275Phe)
|
rs104894314
|
0.00019
|
NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp)
|
rs61754402
|
0.00018
|
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)
|
rs61751408
|
0.00018
|
NM_000372.5(TYR):c.242C>T (p.Pro81Leu)
|
rs28940876
|
0.00018
|
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)
|
rs61751392
|
0.00017
|
NM_000350.3(ABCA4):c.2127G>A (p.Ser709=)
|
rs61754025
|
0.00016
|
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met)
|
rs61750152
|
0.00016
|
NM_000843.4(GRM6):c.1887C>T (p.Thr629=)
|
rs62638216
|
0.00016
|
NM_004183.4(BEST1):c.584C>T (p.Ala195Val)
|
rs200277476
|
0.00016
|
NM_000329.3(RPE65):c.11+5G>A
|
rs61751276
|
0.00014
|
NM_000372.5(TYR):c.1467dup (p.Ala490fs)
|
rs61754399
|
0.00014
|
NM_000180.4(GUCY2D):c.1979G>A (p.Arg660Gln)
|
rs61750162
|
0.00013
|
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)
|
rs61752877
|
0.00013
|
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)
|
rs62645748
|
0.00013
|
NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser)
|
rs62636290
|
0.00012
|
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln)
|
rs61752873
|
0.00011
|
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser)
|
rs104894317
|
0.00011
|
NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter)
|
rs62638214
|
0.00011
|
NM_003322.6(TULP1):c.1496-6C>A
|
rs281865171
|
0.00011
|
NM_000180.4(GUCY2D):c.121C>T (p.Leu41Phe)
|
rs61749664
|
0.00010
|
NM_001378477.3(NYX):c.1034G>A (p.Trp345Ter)
|
rs62637037
|
0.00010
|
NM_201253.3(CRB1):c.3171C>T (p.Asn1057=)
|
rs62636284
|
0.00010
|
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu)
|
rs61750145
|
0.00009
|
NM_000372.5(TYR):c.325G>A (p.Gly109Arg)
|
rs61753253
|
0.00009
|
NM_000843.4(GRM6):c.137C>T (p.Pro46Leu)
|
rs62638197
|
0.00009
|
NM_014336.5(AIPL1):c.277-2A>G
|
rs140808549
|
0.00009
|
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His)
|
rs62653011
|
0.00008
|
NM_000350.3(ABCA4):c.4909G>A (p.Ala1637Thr)
|
rs61754056
|
0.00008
|
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)
|
rs61750200
|
0.00008
|
NM_000372.5(TYR):c.613C>A (p.Pro205Thr)
|
rs61754362
|
0.00008
|
NM_004183.4(BEST1):c.*89dup
|
rs281865284
|
0.00008
|
NM_000350.3(ABCA4):c.2472C>T (p.Ile824=)
|
rs61749434
|
0.00007
|
NM_000350.3(ABCA4):c.5461-52del
|
rs281865392
|
0.00007
|
NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg)
|
rs62636264
|
0.00007
|
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)
|
rs61752871
|
0.00006
|
NM_000350.3(ABCA4):c.1805G>A (p.Arg602Gln)
|
rs61749410
|
0.00006
|
NM_000350.3(ABCA4):c.2453G>A (p.Gly818Glu)
|
rs61750202
|
0.00006
|
NM_000350.3(ABCA4):c.302+1G>A
|
rs61751413
|
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.5019-32G>A
|
rs113014755
|
0.00006
|
NM_000350.3(ABCA4):c.5312+45G>T
|
rs61754059
|
0.00006
|
NM_000350.3(ABCA4):c.71G>A (p.Arg24His)
|
rs62645958
|
0.00006
|
NM_000350.3(ABCA4):c.768G>T (p.Val256=)
|
rs62645944
|
0.00006
|
NM_000372.5(TYR):c.1A>G (p.Met1Val)
|
rs28940881
|
0.00006
|
NM_000372.5(TYR):c.229C>T (p.Arg77Trp)
|
rs61753184
|
0.00006
|
NM_000372.5(TYR):c.230G>A (p.Arg77Gln)
|
rs61753185
|
0.00006
|
NM_000372.5(TYR):c.896G>A (p.Arg299His)
|
rs61754375
|
0.00006
|
NM_000843.4(GRM6):c.721+83G>T
|
rs62638206
|
0.00006
|
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr)
|
rs199529046
|
0.00006
|
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)
|
rs62638179
|
0.00006
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_000273.3(GPR143):c.697G>A (p.Glu233Lys)
|
rs62635038
|
0.00005
|
NM_000329.3(RPE65):c.254G>A (p.Arg85His)
|
rs61752870
|
0.00005
|
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln)
|
rs61748559
|
0.00005
|
NM_000350.3(ABCA4):c.2383-10C>G
|
rs61754026
|
0.00005
|
NM_000350.3(ABCA4):c.2703A>G (p.Thr901=)
|
rs61749442
|
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_000372.5(TYR):c.1063G>C (p.Ala355Pro)
|
rs62645908
|
0.00005
|
NM_000843.4(GRM6):c.2122C>T (p.Gln708Ter)
|
rs62638624
|
0.00005
|
NM_001034853.2(RPGR):c.865A>G (p.Ile289Val)
|
rs62640587
|
0.00005
|
NM_014336.5(AIPL1):c.784G>A (p.Gly262Ser)
|
rs142326926
|
0.00005
|
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys)
|
rs61749668
|
0.00004
|
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)
|
rs61751282
|
0.00004
|
NM_000329.3(RPE65):c.1559T>C (p.Ile520Thr)
|
rs281865291
|
0.00004
|
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro)
|
rs61751277
|
0.00004
|
NM_000330.4(RS1):c.522+5G>A
|
rs200074383
|
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.3940C>A (p.Pro1314Thr)
|
rs61754041
|
0.00004
|
NM_000350.3(ABCA4):c.4169T>C (p.Leu1390Pro)
|
rs61752430
|
0.00004
|
NM_000350.3(ABCA4):c.5242G>A (p.Gly1748Arg)
|
rs61753025
|
0.00004
|
NM_000350.3(ABCA4):c.6112C>T (p.Arg2038Trp)
|
rs61750643
|
0.00004
|
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn)
|
rs121908011
|
0.00004
|
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu)
|
rs62645916
|
0.00004
|
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter)
|
rs62645917
|
0.00004
|
NM_000372.5(TYR):c.832C>T (p.Arg278Ter)
|
rs62645904
|
0.00004
|
NM_000554.6(CRX):c.335C>T (p.Ala112Val)
|
rs61748439
|
0.00004
|
NM_000554.6(CRX):c.818C>T (p.Thr273Met)
|
rs281865203
|
0.00004
|
NM_000843.4(GRM6):c.1565G>A (p.Cys522Tyr)
|
rs62638208
|
0.00004
|
NM_201253.3(CRB1):c.2035C>G (p.Gln679Glu)
|
rs62636286
|
0.00004
|
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)
|
rs62635654
|
0.00004
|
NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter)
|
rs62636273
|
0.00004
|
NM_000180.4(GUCY2D):c.3181G>A (p.Gly1061Ser)
|
rs62641254
|
0.00003
|
NM_000180.4(GUCY2D):c.935C>T (p.Thr312Met)
|
rs61749673
|
0.00003
|
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser)
|
rs61751281
|
0.00003
|
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp)
|
rs121917745
|
0.00003
|
NM_000329.3(RPE65):c.614A>G (p.Asn205Ser)
|
rs61752887
|
0.00003
|
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn)
|
rs61752905
|
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.2147C>T (p.Thr716Met)
|
rs61749426
|
0.00003
|
NM_000350.3(ABCA4):c.2692G>A (p.Glu898Lys)
|
rs61749441
|
0.00003
|
NM_000350.3(ABCA4):c.3323G>A (p.Arg1108His)
|
rs61750121
|
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.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.5761G>A (p.Val1921Met)
|
rs61753032
|
0.00003
|
NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro)
|
rs61753033
|
0.00003
|
NM_000350.3(ABCA4):c.5868C>T (p.Asp1956=)
|
rs62642567
|
0.00003
|
NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val)
|
rs61748521
|
0.00003
|
NM_000372.5(TYR):c.289G>A (p.Gly97Arg)
|
rs61753252
|
0.00003
|
NM_000372.5(TYR):c.346C>T (p.Arg116Ter)
|
rs61753256
|
0.00003
|
NM_000372.5(TYR):c.533G>A (p.Trp178Ter)
|
rs61754360
|
0.00003
|
NM_000372.5(TYR):c.875C>T (p.Thr292Met)
|
rs61754372
|
0.00003
|
NM_000843.4(GRM6):c.448G>A (p.Gly150Ser)
|
rs62638202
|
0.00003
|
NM_000843.4(GRM6):c.664G>A (p.Glu222Lys)
|
rs62638204
|
0.00003
|
NM_003322.6(TULP1):c.1495+1G>A
|
rs281865168
|
0.00003
|
NM_004183.4(BEST1):c.222G>A (p.Gln74=)
|
rs1805141
|
0.00003
|
NM_004183.4(BEST1):c.33T>C (p.Asn11=)
|
rs281865531
|
0.00003
|
NM_004183.4(BEST1):c.355G>C (p.Glu119Gln)
|
rs1805142
|
0.00003
|
NM_004183.4(BEST1):c.647C>T (p.Thr216Ile)
|
rs281865275
|
0.00003
|
NM_004183.4(BEST1):c.933C>T (p.Val311=)
|
rs281865278
|
0.00003
|
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)
|
rs28939720
|
0.00003
|
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg)
|
rs62636275
|
0.00003
|
NM_000180.4(GUCY2D):c.1618C>T (p.Arg540Cys)
|
rs61749754
|
0.00002
|
NM_000180.4(GUCY2D):c.289G>C (p.Glu97Gln)
|
rs61749667
|
0.00002
|
NM_000180.4(GUCY2D):c.937C>T (p.Arg313Cys)
|
rs61749674
|
0.00002
|
NM_000273.3(GPR143):c.360G>A (p.Ala120=)
|
rs281865178
|
0.00002
|
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly)
|
rs62637004
|
0.00002
|
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter)
|
rs62642584
|
0.00002
|
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp)
|
rs61752896
|
0.00002
|
NM_000330.4(RS1):c.325G>C (p.Gly109Arg)
|
rs104894934
|
0.00002
|
NM_000350.3(ABCA4):c.1007C>G (p.Ser336Cys)
|
rs61748547
|
0.00002
|
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.2827C>T (p.Arg943Trp)
|
rs61749446
|
0.00002
|
NM_000350.3(ABCA4):c.3050+5G>A
|
rs61751262
|
0.00002
|
NM_000350.3(ABCA4):c.3291A>G (p.Arg1097=)
|
rs61750118
|
0.00002
|
NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys)
|
rs61751399
|
0.00002
|
NM_000350.3(ABCA4):c.3523-12C>T
|
rs61754037
|
0.00002
|
NM_000350.3(ABCA4):c.3610G>A (p.Asp1204Asn)
|
rs61750127
|
0.00002
|
NM_000350.3(ABCA4):c.3898C>T (p.Arg1300Ter)
|
rs61752427
|
0.00002
|
NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg)
|
rs281865402
|
0.00002
|
NM_000350.3(ABCA4):c.656G>C (p.Arg219Thr)
|
rs61748537
|
0.00002
|
NM_000350.3(ABCA4):c.70C>T (p.Arg24Cys)
|
rs62645942
|
0.00002
|
NM_000372.5(TYR):c.1037-1G>A
|
rs61754382
|
0.00002
|
NM_000372.5(TYR):c.265T>C (p.Cys89Arg)
|
rs28940877
|
0.00002
|
NM_000372.5(TYR):c.646T>A (p.Leu216Met)
|
rs61754363
|
0.00002
|
NM_000554.6(CRX):c.166G>A (p.Ala56Thr)
|
rs61748437
|
0.00002
|
NM_000554.6(CRX):c.268C>T (p.Arg90Trp)
|
rs104894673
|
0.00002
|
NM_000843.4(GRM6):c.1748C>T (p.Ser583Phe)
|
rs62638211
|
0.00002
|
NM_003322.6(TULP1):c.1466A>G (p.Lys489Arg)
|
rs62636511
|
0.00002
|
NM_004183.4(BEST1):c.140G>A (p.Arg47His)
|
rs28940278
|
0.00002
|
NM_004183.4(BEST1):c.313C>T (p.Arg105Cys)
|
rs281865273
|
0.00002
|
NM_014336.5(AIPL1):c.157C>T (p.Arg53Trp)
|
rs62637008
|
0.00002
|
NM_000180.4(GUCY2D):c.1052A>G (p.Tyr351Cys)
|
rs61749676
|
0.00001
|
NM_000180.4(GUCY2D):c.1717A>G (p.Ile573Val)
|
rs61749756
|
0.00001
|
NM_000180.4(GUCY2D):c.1978C>T (p.Arg660Ter)
|
rs61750161
|
0.00001
|
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys)
|
rs61750172
|
0.00001
|
NM_000180.4(GUCY2D):c.2516C>T (p.Thr839Met)
|
rs61750174
|
0.00001
|
NM_000180.4(GUCY2D):c.2837C>T (p.Ala946Val)
|
rs61750180
|
0.00001
|
NM_000180.4(GUCY2D):c.2861T>C (p.Leu954Pro)
|
rs61750182
|
0.00001
|
NM_000180.4(GUCY2D):c.3106C>T (p.Gln1036Ter)
|
rs61750192
|
0.00001
|
NM_000180.4(GUCY2D):c.3G>C (p.Met1Ile)
|
rs281865409
|
0.00001
|
NM_000273.3(GPR143):c.730A>G (p.Ile244Val)
|
rs62635040
|
0.00001
|
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.508G>A (p.Gly170Ser)
|
rs61755791
|
0.00001
|
NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro)
|
rs121918563
|
0.00001
|
NM_000322.5(PRPH2):c.638G>A (p.Cys213Tyr)
|
rs61755803
|
0.00001
|
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu)
|
rs61755806
|
0.00001
|
NM_000322.5(PRPH2):c.659G>A (p.Arg220Gln)
|
rs61755810
|
0.00001
|
NM_000322.5(PRPH2):c.80C>T (p.Ser27Phe)
|
rs61755766
|
0.00001
|
NM_000322.5(PRPH2):c.828+3A>T
|
rs281865373
|
0.00001
|
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)
|
rs61752909
|
0.00001
|
NM_000329.3(RPE65):c.1220T>C (p.Val407Ala)
|
rs62636297
|
0.00001
|
NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro)
|
rs62636298
|
0.00001
|
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln)
|
rs62636299
|
0.00001
|
NM_000329.3(RPE65):c.235T>C (p.Tyr79His)
|
rs61752869
|
0.00001
|
NM_000329.3(RPE65):c.2T>C (p.Met1Thr)
|
rs281865285
|
0.00001
|
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)
|
rs61752883
|
0.00001
|
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter)
|
rs61752895
|
0.00001
|
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter)
|
rs61752904
|
0.00001
|
NM_000329.3(RPE65):c.95-2A>T
|
rs61751279
|
0.00001
|
NM_000330.4(RS1):c.184+1G>C
|
rs281865343
|
0.00001
|
NM_000330.4(RS1):c.194del (p.Tyr65fs)
|
rs62645893
|
0.00001
|
NM_000330.4(RS1):c.214G>A (p.Glu72Lys)
|
rs104894928
|
0.00001
|
NM_000330.4(RS1):c.221G>T (p.Gly74Val)
|
rs104894933
|
0.00001
|
NM_000330.4(RS1):c.304C>T (p.Arg102Trp)
|
rs61752067
|
0.00001
|
NM_000330.4(RS1):c.305G>A (p.Arg102Gln)
|
rs61752068
|
0.00001
|
NM_000330.4(RS1):c.416del (p.Gln139fs)
|
rs61752155
|
0.00001
|
NM_000330.4(RS1):c.544C>T (p.Arg182Cys)
|
rs61753171
|
0.00001
|
NM_000330.4(RS1):c.554C>T (p.Thr185Met)
|
rs61753173
|
0.00001
|
NM_000330.4(RS1):c.590G>A (p.Arg197His)
|
rs281865355
|
0.00001
|
NM_000330.4(RS1):c.655T>G (p.Cys219Gly)
|
rs281865369
|
0.00001
|
NM_000350.3(ABCA4):c.1015T>G (p.Trp339Gly)
|
rs61751420
|
0.00001
|
NM_000350.3(ABCA4):c.1037A>C (p.Lys346Thr)
|
rs61752389
|
0.00001
|
NM_000350.3(ABCA4):c.1335C>G (p.Ser445Arg)
|
rs61748552
|
0.00001
|
NM_000350.3(ABCA4):c.1569T>G (p.Asp523Glu)
|
rs62646868
|
0.00001
|
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg)
|
rs61748558
|
0.00001
|
NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter)
|
rs61749414
|
0.00001
|
NM_000350.3(ABCA4):c.1917C>T (p.Tyr639=)
|
rs61749415
|
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.203C>T (p.Pro68Leu)
|
rs62654397
|
0.00001
|
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg)
|
rs61751412
|
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.2461T>A (p.Trp821Arg)
|
rs61749433
|
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.2617T>C (p.Phe873Leu)
|
rs62642570
|
0.00001
|
NM_000350.3(ABCA4):c.2870A>G (p.Gln957Arg)
|
rs61749448
|
0.00001
|
NM_000350.3(ABCA4):c.2920T>C (p.Ser974Pro)
|
rs281865400
|
0.00001
|
NM_000350.3(ABCA4):c.298T>C (p.Ser100Pro)
|
rs61748530
|
0.00001
|
NM_000350.3(ABCA4):c.2992C>T (p.Leu998=)
|
rs62642566
|
0.00001
|
NM_000350.3(ABCA4):c.3041T>G (p.Leu1014Arg)
|
rs61749456
|
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.3149G>A (p.Gly1050Asp)
|
rs61750062
|
0.00001
|
NM_000350.3(ABCA4):c.3163C>T (p.Arg1055Trp)
|
rs61752412
|
0.00001
|
NM_000350.3(ABCA4):c.3212C>T (p.Ser1071Leu)
|
rs61750065
|
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.3335C>A (p.Thr1112Asn)
|
rs61750122
|
0.00001
|
NM_000350.3(ABCA4):c.3874C>T (p.Gln1292Ter)
|
rs61752426
|
0.00001
|
NM_000350.3(ABCA4):c.3994C>T (p.Gln1332Ter)
|
rs61752428
|
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+4C>T
|
rs61754044
|
0.00001
|
NM_000350.3(ABCA4):c.428C>T (p.Pro143Leu)
|
rs62646860
|
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.4506C>T (p.Cys1502=)
|
rs61750149
|
0.00001
|
NM_000350.3(ABCA4):c.4539+40C>T
|
rs61754050
|
0.00001
|
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter)
|
rs62646861
|
0.00001
|
NM_000350.3(ABCA4):c.4667+2T>C
|
rs61752436
|
0.00001
|
NM_000350.3(ABCA4):c.4732G>A (p.Gly1578Arg)
|
rs1800551
|
0.00001
|
NM_000350.3(ABCA4):c.4746C>T (p.Asp1582=)
|
rs61754055
|
0.00001
|
NM_000350.3(ABCA4):c.4748T>C (p.Leu1583Pro)
|
rs61750153
|
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.4999C>A (p.Gln1667Lys)
|
rs61753018
|
0.00001
|
NM_000350.3(ABCA4):c.5018+2T>C
|
rs61750562
|
0.00001
|
NM_000350.3(ABCA4):c.5186T>C (p.Leu1729Pro)
|
rs61750567
|
0.00001
|
NM_000350.3(ABCA4):c.5196+1G>A
|
rs61751377
|
0.00001
|
NM_000350.3(ABCA4):c.5206T>C (p.Ser1736Pro)
|
rs61750568
|
0.00001
|
NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter)
|
rs61750571
|
0.00001
|
NM_000350.3(ABCA4):c.5337C>G (p.Tyr1779Ter)
|
rs61750573
|
0.00001
|
NM_000350.3(ABCA4):c.5537T>C (p.Ile1846Thr)
|
rs61750575
|
0.00001
|
NM_000350.3(ABCA4):c.5657G>A (p.Gly1886Glu)
|
rs62642579
|
0.00001
|
NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser)
|
rs61750639
|
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.6286G>A (p.Glu2096Lys)
|
rs61750646
|
0.00001
|
NM_000350.3(ABCA4):c.6342G>A (p.Val2114=)
|
rs61748520
|
0.00001
|
NM_000350.3(ABCA4):c.6383A>G (p.His2128Arg)
|
rs61750651
|
0.00001
|
NM_000350.3(ABCA4):c.6386+2C>G
|
rs61753043
|
0.00001
|
NM_000350.3(ABCA4):c.6391G>A (p.Glu2131Lys)
|
rs61750652
|
0.00001
|
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter)
|
rs61750654
|
0.00001
|
NM_000350.3(ABCA4):c.6448T>C (p.Cys2150Arg)
|
rs61750656
|
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.6686T>C (p.Leu2229Pro)
|
rs61750659
|
0.00001
|
NM_000350.3(ABCA4):c.740A>G (p.Asn247Ser)
|
rs62645950
|
0.00001
|
NM_000350.3(ABCA4):c.873G>A (p.Pro291=)
|
rs61753054
|
0.00001
|
NM_000350.3(ABCA4):c.928G>C (p.Glu310Gln)
|
rs61753055
|
0.00001
|
NM_000350.3(ABCA4):c.933C>T (p.Thr311=)
|
rs61753056
|
0.00001
|
NM_000350.3(ABCA4):c.997C>T (p.Arg333Trp)
|
rs61748546
|
0.00001
|
NM_000372.5(TYR):c.1075C>T (p.Gln359Ter)
|
rs62645909
|
0.00001
|
NM_000372.5(TYR):c.1111A>T (p.Asn371Tyr)
|
rs61754386
|
0.00001
|
NM_000372.5(TYR):c.1112A>C (p.Asn371Thr)
|
rs61754387
|
0.00001
|
NM_000372.5(TYR):c.1132C>T (p.Gln378Ter)
|
rs61754390
|
0.00001
|
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser)
|
rs104894316
|
0.00001
|
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg)
|
rs61754392
|
0.00001
|
NM_000372.5(TYR):c.1265G>A (p.Arg422Gln)
|
rs61754393
|
0.00001
|
NM_000372.5(TYR):c.1315T>G (p.Phe439Val)
|
rs281865327
|
0.00001
|
NM_000372.5(TYR):c.1501dup (p.Arg501fs)
|
rs281865328
|
0.00001
|
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr)
|
rs28940879
|
0.00001
|
NM_000372.5(TYR):c.230_232dup (p.Arg77_Glu78insGly)
|
rs61753187
|
0.00001
|
NM_000372.5(TYR):c.238T>C (p.Trp80Arg)
|
rs61753188
|
0.00001
|
NM_000372.5(TYR):c.2T>C (p.Met1Thr)
|
rs281865324
|
0.00001
|
NM_000372.5(TYR):c.61C>T (p.Pro21Ser)
|
rs61753178
|
0.00001
|
NM_000372.5(TYR):c.649del (p.Arg217fs)
|
rs61754364
|
0.00001
|
NM_000372.5(TYR):c.707G>A (p.Trp236Ter)
|
rs61754367
|
0.00001
|
NM_000372.5(TYR):c.766C>T (p.His256Tyr)
|
rs61754370
|
0.00001
|
NM_000554.6(CRX):c.121C>T (p.Arg41Trp)
|
rs104894672
|
0.00001
|
NM_000554.6(CRX):c.122G>A (p.Arg41Gln)
|
rs61748436
|
0.00001
|
NM_001034853.2(RPGR):c.106G>T (p.Val36Phe)
|
rs62638628
|
0.00001
|
NM_001034853.2(RPGR):c.778+5G>A
|
rs62640583
|
0.00001
|
NM_003322.6(TULP1):c.1375A>C (p.Ile459Leu)
|
rs281865533
|
0.00001
|
NM_004183.4(BEST1):c.122T>C (p.Leu41Pro)
|
rs121918288
|
0.00001
|
NM_004183.4(BEST1):c.1574A>C (p.Glu525Ala)
|
rs200582915
|
0.00001
|
NM_004183.4(BEST1):c.165G>A (p.Thr55=)
|
rs62637050
|
0.00001
|
NM_004183.4(BEST1):c.248-26C>T
|
rs62639354
|
0.00001
|
NM_004183.4(BEST1):c.274C>A (p.Arg92Ser)
|
rs281865224
|
0.00001
|
NM_004183.4(BEST1):c.38G>A (p.Arg13His)
|
rs281865209
|
0.00001
|
NM_004183.4(BEST1):c.399C>G (p.Asn133Lys)
|
rs281865233
|
0.00001
|
NM_004183.4(BEST1):c.421C>A (p.Arg141Ser)
|
rs281865236
|
0.00001
|
NM_004183.4(BEST1):c.653G>A (p.Arg218His)
|
rs281865239
|
0.00001
|
NM_004183.4(BEST1):c.74G>A (p.Arg25Gln)
|
rs281865215
|
0.00001
|
NM_004183.4(BEST1):c.823G>A (p.Val275Ile)
|
rs281865276
|
0.00001
|
NM_004183.4(BEST1):c.89A>G (p.Lys30Arg)
|
rs281865218
|
0.00001
|
NM_004183.4(BEST1):c.934G>A (p.Asp312Asn)
|
rs281865277
|
0.00001
|
NM_020366.4(RPGRIP1):c.3780A>T (p.Ile1260=)
|
rs281865294
|
0.00001
|
NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr)
|
rs62636271
|
0.00001
|
NM_201253.3(CRB1):c.2823G>A (p.Pro941=)
|
rs62645757
|
0.00001
|
NM_201253.3(CRB1):c.3122T>C (p.Met1041Thr)
|
rs62635656
|
0.00001
|
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro)
|
rs62636276
|
0.00001
|
NM_201253.3(CRB1):c.3949A>C (p.Asn1317His)
|
rs62636281
|
0.00001
|
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs)
|
rs61749670
|
|
NM_000180.4(GUCY2D):c.1026+172del
|
rs61750197
|
|
NM_000180.4(GUCY2D):c.1084G>T (p.Ala362Ser)
|
rs61749677
|
|
NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter)
|
rs61749679
|
|
NM_000180.4(GUCY2D):c.1379-28A>G
|
rs61749680
|
|
NM_000180.4(GUCY2D):c.1424_1431dup (p.Leu478fs)
|
rs61749681
|
|
NM_000180.4(GUCY2D):c.1566+2T>C
|
rs61749683
|
|
NM_000180.4(GUCY2D):c.1615A>G (p.Ile539Val)
|
rs61749753
|
|
NM_000180.4(GUCY2D):c.1694T>C (p.Phe565Ser)
|
rs61749755
|
|
NM_000180.4(GUCY2D):c.1806_1830del (p.Ala604fs)
|
rs63749078
|
|
NM_000180.4(GUCY2D):c.1956+2T>A
|
rs61749758
|
|
NM_000180.4(GUCY2D):c.1957-1G>A
|
rs61749759
|
|
NM_000180.4(GUCY2D):c.1957-1G>T
|
rs61749759
|
|
NM_000180.4(GUCY2D):c.1957G>A (p.Gly653Arg)
|
rs61750160
|
|
NM_000180.4(GUCY2D):c.2078_2085del (p.Ala693fs)
|
rs61750163
|
|
NM_000180.4(GUCY2D):c.2080C>A (p.Gln694Lys)
|
rs61750164
|
|
NM_000180.4(GUCY2D):c.2237A>G (p.Tyr746Cys)
|
rs61750166
|
|
NM_000180.4(GUCY2D):c.2248G>T (p.Glu750Ter)
|
rs61750167
|
|
NM_000180.4(GUCY2D):c.226_239del (p.Ala76fs)
|
rs281865410
|
|
NM_000180.4(GUCY2D):c.2317A>C (p.Met773Leu)
|
rs61750169
|
|
NM_000180.4(GUCY2D):c.2346C>A (p.Leu782=)
|
rs61750170
|
|
NM_000180.4(GUCY2D):c.2384G>T (p.Arg795Leu)
|
rs61750171
|
|
NM_000180.4(GUCY2D):c.2511G>C (p.Glu837Asp)
|
rs28933695
|
|
NM_000180.4(GUCY2D):c.2512C>A (p.Arg838Ser)
|
rs61750172
|
|
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His)
|
rs61750173
|
|
NM_000180.4(GUCY2D):c.2566A>G (p.Met856Val)
|
rs61750175
|
|
NM_000180.4(GUCY2D):c.2572C>T (p.Pro858Ser)
|
rs61750176
|
|
NM_000180.4(GUCY2D):c.2745C>T (p.Ile915=)
|
rs61750177
|
|
NM_000180.4(GUCY2D):c.2749G>C (p.Gly917Arg)
|
rs61750178
|
|
NM_000180.4(GUCY2D):c.2800G>C (p.Ala934Pro)
|
rs61750179
|
|
NM_000180.4(GUCY2D):c.2849C>T (p.Ala950Val)
|
rs61750181
|
|
NM_000180.4(GUCY2D):c.2899del (p.His967fs)
|
rs61750183
|
|
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu)
|
rs61750184
|
|
NM_000180.4(GUCY2D):c.2944+1del
|
rs61750185
|
|
NM_000180.4(GUCY2D):c.2951G>A (p.Cys984Tyr)
|
rs61750186
|
|
NM_000180.4(GUCY2D):c.2983C>T (p.Arg995Trp)
|
rs61750187
|
|
NM_000180.4(GUCY2D):c.2T>A (p.Met1Lys)
|
rs281865408
|
|
NM_000180.4(GUCY2D):c.3025A>T (p.Met1009Leu)
|
rs61750188
|
|
NM_000180.4(GUCY2D):c.3043+4A>T
|
rs61750189
|
|
NM_000180.4(GUCY2D):c.3055C>A (p.His1019Asn)
|
rs61750190
|
|
NM_000180.4(GUCY2D):c.3078_3079del (p.Ile1027fs)
|
rs281865411
|
|
NM_000180.4(GUCY2D):c.3108G>T (p.Gln1036His)
|
rs61750193
|
|
NM_000180.4(GUCY2D):c.3118C>G (p.Arg1040Gly)
|
rs61750194
|
|
NM_000180.4(GUCY2D):c.3118C>T (p.Arg1040Ter)
|
rs61750194
|
|
NM_000180.4(GUCY2D):c.314G>A (p.Cys105Tyr)
|
rs61749669
|
|
NM_000180.4(GUCY2D):c.3206del (p.Pro1069fs)
|
rs61750196
|
|
NM_000180.4(GUCY2D):c.3237_3238insCAAC (p.Gly1080fs)
|
rs281865412
|
|
NM_000180.4(GUCY2D):c.3282G>T (p.Leu1094=)
|
rs281865413
|
|
NM_000180.4(GUCY2D):c.341T>C (p.Val114Ala)
|
rs61750198
|
|
NM_000180.4(GUCY2D):c.387C>A (p.Asn129Lys)
|
rs63340060
|
|
NM_000180.4(GUCY2D):c.3G>A (p.Met1Ile)
|
rs281865409
|
|
NM_000180.4(GUCY2D):c.52_99dup (p.Gly18_Leu33dup)
|
rs63749076
|
|
NM_000180.4(GUCY2D):c.577C>T (p.Leu193=)
|
rs61750199
|
|
NM_000180.4(GUCY2D):c.622del (p.Arg208fs)
|
rs61749671
|
|
NM_000180.4(GUCY2D):c.779T>C (p.Leu260Pro)
|
rs61749672
|
|
NM_000180.4(GUCY2D):c.91dup (p.Arg31fs)
|
rs61749663
|
|
NM_000180.4(GUCY2D):c.974T>C (p.Leu325Pro)
|
rs61749675
|
|
NM_000273.3(GPR143):c.104G>A (p.Gly35Asp)
|
rs62635018
|
|
NM_000273.3(GPR143):c.116T>G (p.Leu39Arg)
|
rs62635019
|
|
NM_000273.3(GPR143):c.13C>T (p.Arg5Cys)
|
rs62635289
|
|
NM_000273.3(GPR143):c.155_161del (p.Arg52fs)
|
rs281865176
|
|
NM_000273.3(GPR143):c.165_193del (p.Pro57fs)
|
rs63749126
|
|
NM_000273.3(GPR143):c.174_175insC (p.Ser59fs)
|
rs62635022
|
|
NM_000273.3(GPR143):c.175del (p.Ser59fs)
|
rs62635023
|
|
NM_000273.3(GPR143):c.216_232del (p.Ala73fs)
|
rs62645741
|
|
NM_000273.3(GPR143):c.232G>A (p.Asp78Asn)
|
rs62635024
|
|
NM_000273.3(GPR143):c.233A>T (p.Asp78Val)
|
rs62635025
|
|
NM_000273.3(GPR143):c.250G>C (p.Gly84Arg)
|
rs62635026
|
|
NM_000273.3(GPR143):c.251-1G>C
|
rs281865177
|
|
NM_000273.3(GPR143):c.251G>A (p.Gly84Asp)
|
rs62635027
|
|
NM_000273.3(GPR143):c.310del (p.Asp104fs)
|
rs62635028
|
|
NM_000273.3(GPR143):c.346T>C (p.Cys116Arg)
|
rs62635030
|
|
NM_000273.3(GPR143):c.347G>C (p.Cys116Ser)
|
rs62635029
|
|
NM_000273.3(GPR143):c.353G>A (p.Gly118Glu)
|
rs62635031
|
|
NM_000273.3(GPR143):c.360+5G>C
|
rs281865179
|
|
NM_000273.3(GPR143):c.397T>A (p.Trp133Arg)
|
rs137852296
|
|
NM_000273.3(GPR143):c.397T>C (p.Trp133Arg)
|
rs137852296
|
|
NM_000273.3(GPR143):c.402del (p.Cys136fs)
|
rs62635034
|
|
NM_000273.3(GPR143):c.413C>T (p.Ala138Val)
|
rs62635762
|
|
NM_000273.3(GPR143):c.444_445insAGATCGG (p.Ala149fs)
|
rs281865180
|
|
NM_000273.3(GPR143):c.455+1G>C
|
rs281865181
|
|
NM_000273.3(GPR143):c.455G>A (p.Ser152Asn)
|
rs58933950
|
|
NM_000273.3(GPR143):c.518C>A (p.Ala173Asp)
|
rs62635035
|
|
NM_000273.3(GPR143):c.677del (p.Gly226fs)
|
rs281865182
|
|
NM_000273.3(GPR143):c.686G>T (p.Gly229Val)
|
rs62635037
|
|
NM_000273.3(GPR143):c.695C>A (p.Thr232Lys)
|
rs137852297
|
|
NM_000273.3(GPR143):c.705G>A (p.Glu235=)
|
rs62635039
|
|
NM_000273.3(GPR143):c.756_767+2del
|
rs281865183
|
|
NM_000273.3(GPR143):c.779A>T (p.Asn260Ile)
|
rs62635042
|
|
NM_000273.3(GPR143):c.812A>G (p.Glu271Gly)
|
rs62635043
|
|
NM_000273.3(GPR143):c.870_872del (p.Thr291del)
|
rs62635044
|
|
NM_000273.3(GPR143):c.874T>G (p.Trp292Gly)
|
rs62635045
|
|
NM_000273.3(GPR143):c.876G>A (p.Trp292Ter)
|
rs62635046
|
|
NM_000273.3(GPR143):c.876G>T (p.Trp292Cys)
|
rs62635046
|
|
NM_000273.3(GPR143):c.885+1G>A
|
rs281865184
|
|
NM_000273.3(GPR143):c.931_932insCG (p.Tyr311fs)
|
rs62635047
|
|
NM_000322.5(PRPH2):c.*851_*854del
|
rs281865376
|
|
NM_000322.5(PRPH2):c.113del (p.Gly38fs)
|
rs61755769
|
|
NM_000322.5(PRPH2):c.198_202delinsAAGACAGA (p.Met67_Gly68delinsArgGlnArg)
|
rs63749073
|
|
NM_000322.5(PRPH2):c.199_201del (p.Met67del)
|
rs61755773
|
|
NM_000322.5(PRPH2):c.202G>A (p.Gly68Arg)
|
rs61755774
|
|
NM_000322.5(PRPH2):c.2T>C (p.Met1Thr)
|
rs121918565
|
|
NM_000322.5(PRPH2):c.303C>T (p.Tyr101=)
|
rs61755776
|
|
NM_000322.5(PRPH2):c.353GCT[1] (p.Cys119del)
|
rs61755777
|
|
NM_000322.5(PRPH2):c.371del (p.Gly124fs)
|
rs61755778
|
|
NM_000322.5(PRPH2):c.376C>G (p.Leu126Val)
|
rs61755779
|
|
NM_000322.5(PRPH2):c.37C>A (p.Arg13=)
|
rs61754402
|
|
NM_000322.5(PRPH2):c.421T>C (p.Tyr141His)
|
rs61755780
|
|
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys)
|
rs61755781
|
|
NM_000322.5(PRPH2):c.423_424insTACT (p.Arg142fs)
|
rs61755782
|
|
NM_000322.5(PRPH2):c.441del (p.Gly148fs)
|
rs61755784
|
|
NM_000322.5(PRPH2):c.458A>G (p.Lys153Arg)
|
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.494G>A (p.Cys165Tyr)
|
rs61755788
|
|
NM_000322.5(PRPH2):c.500G>A (p.Gly167Asp)
|
rs61755789
|
|
NM_000322.5(PRPH2):c.502AAC[1] (p.Asn169del)
|
rs61755790
|
|
NM_000322.5(PRPH2):c.514C>G (p.Arg172Gly)
|
rs61755792
|
|
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.518A>T (p.Asp173Val)
|
rs61755794
|
|
NM_000322.5(PRPH2):c.533A>G (p.Gln178Arg)
|
rs61755795
|
|
NM_000322.5(PRPH2):c.535T>C (p.Trp179Arg)
|
rs61755796
|
|
NM_000322.5(PRPH2):c.551A>C (p.Tyr184Ser)
|
rs62645926
|
|
NM_000322.5(PRPH2):c.577_579del (p.Lys193del)
|
rs62645928
|
|
NM_000322.5(PRPH2):c.578_579del (p.Lys193fs)
|
rs62645929
|
|
NM_000322.5(PRPH2):c.584G>T (p.Arg195Leu)
|
rs121918567
|
|
NM_000322.5(PRPH2):c.589A>G (p.Lys197Glu)
|
rs62645931
|
|
NM_000322.5(PRPH2):c.599T>A (p.Val200Glu)
|
rs62645932
|
|
NM_000322.5(PRPH2):c.609_625del (p.Tyr204fs)
|
rs281865372
|
|
NM_000322.5(PRPH2):c.616_627del (p.Val206_Val209del)
|
rs62645934
|
|
NM_000322.5(PRPH2):c.623dup (p.Val209fs)
|
rs62641253
|
|
NM_000322.5(PRPH2):c.628C>T (p.Pro210Ser)
|
rs61755797
|
|
NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg)
|
rs61755798
|
|
NM_000322.5(PRPH2):c.629C>T (p.Pro210Leu)
|
rs61755798
|
|
NM_000322.5(PRPH2):c.633C>A (p.Phe211Leu)
|
rs61755799
|
|
NM_000322.5(PRPH2):c.634A>G (p.Ser212Gly)
|
rs61755800
|
|
NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr)
|
rs61755801
|
|
NM_000322.5(PRPH2):c.637T>C (p.Cys213Arg)
|
rs61755802
|
|
NM_000322.5(PRPH2):c.641G>A (p.Cys214Tyr)
|
rs61755804
|
|
NM_000322.5(PRPH2):c.641G>C (p.Cys214Ser)
|
rs61755804
|
|
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser)
|
rs61755805
|
|
NM_000322.5(PRPH2):c.656C>G (p.Pro219Arg)
|
rs61755808
|
|
NM_000322.5(PRPH2):c.656_658del (p.Pro219del)
|
rs61755807
|
|
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp)
|
rs61755809
|
|
NM_000322.5(PRPH2):c.676C>G (p.Gln226Glu)
|
rs61755811
|
|
NM_000322.5(PRPH2):c.700dup (p.Tyr234fs)
|
rs61755812
|
|
NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter)
|
rs61755814
|
|
NM_000322.5(PRPH2):c.730A>C (p.Asn244His)
|
rs61755815
|
|
NM_000322.5(PRPH2):c.732C>A (p.Asn244Lys)
|
rs61755816
|
|
NM_000322.5(PRPH2):c.732C>G (p.Asn244Lys)
|
rs61755816
|
|
NM_000322.5(PRPH2):c.736T>C (p.Trp246Arg)
|
rs61755817
|
|
NM_000322.5(PRPH2):c.73_74del (p.Trp25fs)
|
rs61755765
|
|
NM_000322.5(PRPH2):c.773A>C (p.Tyr258Ser)
|
rs61755818
|
|
NM_000322.5(PRPH2):c.797G>A (p.Gly266Asp)
|
rs62645935
|
|
NM_000322.5(PRPH2):c.802G>A (p.Val268Ile)
|
rs62645936
|
|
NM_000322.5(PRPH2):c.824_825del (p.Leu274_Phe275insTer)
|
rs62645937
|
|
NM_000322.5(PRPH2):c.855C>A (p.Tyr285Ter)
|
rs62645938
|
|
NM_000322.5(PRPH2):c.897_898del (p.Ser301fs)
|
rs61748429
|
|
NM_000322.5(PRPH2):c.904G>T (p.Glu302Ter)
|
rs61748430
|
|
NM_000322.5(PRPH2):c.914G>A (p.Gly305Asp)
|
rs61748432
|
|
NM_000322.5(PRPH2):c.914_922del (p.Gly305_Leu308delinsVal)
|
rs281865374
|
|
NM_000322.5(PRPH2):c.920del (p.Leu307fs)
|
rs61748433
|
|
NM_000322.5(PRPH2):c.947G>A (p.Trp316Ter)
|
rs121918566
|
|
NM_000322.5(PRPH2):c.96dup (p.Ile33fs)
|
rs61755768
|
|
NM_000322.5(PRPH2):c.991C>T (p.Gln331Ter)
|
rs281865375
|
|
NM_000328.2(RPGR):c.*477_*497dup
|
rs281865320
|
|
NM_000328.2(RPGR):c.*624_*635del
|
rs281865321
|
|
NM_000328.2(RPGR):c.*638_*649del
|
rs281865322
|
|
NM_000328.2(RPGR):c.*874_*875insA
|
rs281865323
|
|
NM_000328.3(RPGR):c.*158_*172del
|
rs281865317
|
|
NM_000328.3(RPGR):c.*177dup
|
rs281865318
|
|
NM_000328.3(RPGR):c.*372_*392dup
|
rs281865319
|
|
NM_000328.3(RPGR):c.*76del
|
rs281865315
|
|
NM_000328.3(RPGR):c.*94_*114del
|
rs281865316
|
|
NM_000328.3(RPGR):c.2055A>G (p.Arg685=)
|
rs281865306
|
|
NM_000328.3(RPGR):c.2080A>T (p.Thr694Ser)
|
rs281865307
|
|
NM_000328.3(RPGR):c.2226G>A (p.Met742Ile)
|
rs281865308
|
|
NM_000328.3(RPGR):c.2259A>T (p.Arg753Ser)
|
rs281865309
|
|
NM_000328.3(RPGR):c.2260G>T (p.Val754Phe)
|
rs281865310
|
|
NM_000328.3(RPGR):c.2311del (p.Glu771fs)
|
rs281865311
|
|
NM_000328.3(RPGR):c.2357_2358del (p.Lys786fs)
|
rs281865312
|
|
NM_000328.3(RPGR):c.2357_2375del (p.Lys786fs)
|
rs281865313
|
|
NM_000328.3(RPGR):c.2447_*13del (p.Ter816Xaa)
|
rs281865314
|
|
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs)
|
rs62642583
|
|
NM_000329.3(RPE65):c.1046_1047insTGG (p.Asn349_Trp350insGly)
|
rs61752910
|
|
NM_000329.3(RPE65):c.1053A>G (p.Glu351=)
|
rs62642585
|
|
NM_000329.3(RPE65):c.1067del (p.Asn356fs)
|
rs281865520
|
|
NM_000329.3(RPE65):c.106_114del (p.Leu36_Leu38del)
|
rs61751280
|
|
NM_000329.3(RPE65):c.1078G>C (p.Ala360Pro)
|
rs62646883
|
|
NM_000329.3(RPE65):c.11+34T>A
|
rs61751275
|
|
NM_000329.3(RPE65):c.1103A>G (p.Tyr368Cys)
|
rs62653012
|
|
NM_000329.3(RPE65):c.1120del (p.Ile374fs)
|
rs62653013
|
|
NM_000329.3(RPE65):c.1178C>G (p.Ala393Gly)
|
rs62635773
|
|
NM_000329.3(RPE65):c.1207_1210dup (p.Glu404fs)
|
rs62636295
|
|
NM_000329.3(RPE65):c.1208T>C (p.Leu403Pro)
|
rs62636296
|
|
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)
|
rs62636300
|
|
NM_000329.3(RPE65):c.1302G>C (p.Ala434=)
|
rs62636301
|
|
NM_000329.3(RPE65):c.1304A>G (p.Tyr435Cys)
|
rs62636302
|
|
NM_000329.3(RPE65):c.1307G>T (p.Gly436Val)
|
rs62637002
|
|
NM_000329.3(RPE65):c.1350G>T (p.Leu450=)
|
rs62637003
|
|
NM_000329.3(RPE65):c.1370C>A (p.Thr457Asn)
|
rs62637005
|
|
NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter)
|
rs62637006
|
|
NM_000329.3(RPE65):c.138del (p.Pro47fs)
|
rs61752865
|
|
NM_000329.3(RPE65):c.1418T>A (p.Val473Asp)
|
rs62637007
|
|
NM_000329.3(RPE65):c.1451-22C>T
|
rs281865290
|
|
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)
|
rs62653015
|
|
NM_000329.3(RPE65):c.1590del (p.Phe530fs)
|
rs281865292
|
|
NM_000329.3(RPE65):c.202C>T (p.His68Tyr)
|
rs61752866
|
|
NM_000329.3(RPE65):c.208_209delinsGG (p.Phe70Gly)
|
rs281865287
|
|
NM_000329.3(RPE65):c.231C>A (p.Val77=)
|
rs61752868
|
|
NM_000329.3(RPE65):c.271_272insA (p.Arg91fs)
|
rs61752872
|
|
NM_000329.3(RPE65):c.272G>C (p.Arg91Pro)
|
rs61752873
|
|
NM_000329.3(RPE65):c.283G>C (p.Glu95Gln)
|
rs61752874
|
|
NM_000329.3(RPE65):c.304G>A (p.Glu102Lys)
|
rs62642584
|
|
NM_000329.3(RPE65):c.311G>T (p.Gly104Val)
|
rs61752875
|
|
NM_000329.3(RPE65):c.353+1G>T
|
rs61752876
|
|
NM_000329.3(RPE65):c.430T>G (p.Tyr144Asp)
|
rs61752880
|
|
NM_000329.3(RPE65):c.432C>T (p.Tyr144=)
|
rs56021047
|
|
NM_000329.3(RPE65):c.444G>T (p.Glu148Asp)
|
rs61752882
|
|
NM_000329.3(RPE65):c.495+1dup
|
rs281865288
|
|
NM_000329.3(RPE65):c.544C>A (p.His182Asn)
|
rs61752884
|
|
NM_000329.3(RPE65):c.544C>T (p.His182Tyr)
|
rs61752884
|
|
NM_000329.3(RPE65):c.570C>T (p.Tyr190=)
|
rs61752885
|
|
NM_000329.3(RPE65):c.57_58del (p.Glu20fs)
|
rs62642582
|
|
NM_000329.3(RPE65):c.609C>T (p.Ala203=)
|
rs61752886
|
|
NM_000329.3(RPE65):c.615_616del (p.Ile206fs)
|
rs61752888
|
|
NM_000329.3(RPE65):c.643+1G>C
|
rs61752889
|
|
NM_000329.3(RPE65):c.643+5G>A
|
rs61752890
|
|
NM_000329.3(RPE65):c.644-1G>T
|
rs61752892
|
|
NM_000329.3(RPE65):c.644-2A>T
|
rs61752891
|
|
NM_000329.3(RPE65):c.644-43del
|
rs61752894
|
|
NM_000329.3(RPE65):c.644A>G (p.Asp215Gly)
|
rs62646881
|
|
NM_000329.3(RPE65):c.725+4A>G
|
rs61752897
|
|
NM_000329.3(RPE65):c.778_785del (p.Asn260fs)
|
rs63749059
|
|
NM_000329.3(RPE65):c.858+1G>A
|
rs61752899
|
|
NM_000329.3(RPE65):c.858+1G>T
|
rs61752899
|
|
NM_000329.3(RPE65):c.858+4A>G
|
rs61752900
|
|
NM_000329.3(RPE65):c.859G>T (p.Val287Phe)
|
rs281865289
|
|
NM_000329.3(RPE65):c.893del (p.Lys298fs)
|
rs61752902
|
|
NM_000329.3(RPE65):c.894del (p.Lys298fs)
|
rs61752903
|
|
NM_000329.3(RPE65):c.89dup (p.Thr31fs)
|
rs281865286
|
|
NM_000329.3(RPE65):c.95G>T (p.Gly32Val)
|
rs61751278
|
|
NM_000329.3(RPE65):c.962dup (p.Asn321fs)
|
rs61752906
|
|
NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr)
|
rs61752908
|
|
NM_000330.4(RS1):c.120C>A (p.Cys40Ter)
|
rs62645885
|
|
NM_000330.4(RS1):c.160_163dup (p.Thr55fs)
|
rs281865342
|
|
NM_000330.4(RS1):c.163del (p.Thr55fs)
|
rs62645886
|
|
NM_000330.4(RS1):c.175T>A (p.Cys59Ser)
|
rs62645889
|
|
NM_000330.4(RS1):c.185-1G>C
|
rs281865344
|
|
NM_000330.4(RS1):c.194A>G (p.Tyr65Cys)
|
rs62645892
|
|
NM_000330.4(RS1):c.1A>G (p.Met1Val)
|
rs281865332
|
|
NM_000330.4(RS1):c.208G>C (p.Gly70Arg)
|
rs62645894
|
|
NM_000330.4(RS1):c.209G>A (p.Gly70Asp)
|
rs62645895
|
|
NM_000330.4(RS1):c.214G>C (p.Glu72Gln)
|
rs104894928
|
|
NM_000330.4(RS1):c.216G>C (p.Glu72Asp)
|
rs104894932
|
|
NM_000330.4(RS1):c.217T>C (p.Ser73Pro)
|
rs62645899
|
|
NM_000330.4(RS1):c.219del (p.Glu75fs)
|
rs62645900
|
|
NM_000330.4(RS1):c.223G>T (p.Glu75Ter)
|
rs62641252
|
|
NM_000330.4(RS1):c.242T>A (p.Ile81Asn)
|
rs61750457
|
|
NM_000330.4(RS1):c.253_255del (p.Asn85del)
|
rs61750458
|
|
NM_000330.4(RS1):c.262C>T (p.Gln88Ter)
|
rs61750459
|
|
NM_000330.4(RS1):c.266A>G (p.Tyr89Cys)
|
rs61752060
|
|
NM_000330.4(RS1):c.267T>A (p.Tyr89Ter)
|
rs61752061
|
|
NM_000330.4(RS1):c.276G>C (p.Trp92Cys)
|
rs61752062
|
|
NM_000330.4(RS1):c.286T>C (p.Trp96Arg)
|
rs61752063
|
|
NM_000330.4(RS1):c.288G>A (p.Trp96Ter)
|
rs61752064
|
|
NM_000330.4(RS1):c.293C>A (p.Ala98Glu)
|
rs61752065
|
|
NM_000330.4(RS1):c.2T>C (p.Met1Thr)
|
rs281865333
|
|
NM_000330.4(RS1):c.301G>C (p.Ala101Pro)
|
rs61752066
|
|
NM_000330.4(RS1):c.301del (p.Ala101fs)
|
rs63465862
|
|
NM_000330.4(RS1):c.308T>G (p.Leu103Arg)
|
rs61752069
|
|
NM_000330.4(RS1):c.312C>G (p.Asn104Lys)
|
rs61752070
|
|
NM_000330.4(RS1):c.318dup (p.Gly107fs)
|
rs61752071
|
|
NM_000330.4(RS1):c.323T>G (p.Phe108Cys)
|
rs61752072
|
|
NM_000330.4(RS1):c.325G>T (p.Gly109Trp)
|
rs104894934
|
|
NM_000330.4(RS1):c.326+1G>A
|
rs281865346
|
|
NM_000330.4(RS1):c.326G>A (p.Gly109Glu)
|
rs281865345
|
|
NM_000330.4(RS1):c.329G>A (p.Cys110Tyr)
|
rs61752075
|
|
NM_000330.4(RS1):c.330T>A (p.Cys110Ter)
|
rs1801161
|
|
NM_000330.4(RS1):c.336G>C (p.Trp112Cys)
|
rs61752144
|
|
NM_000330.4(RS1):c.336G>T (p.Trp112Cys)
|
rs61752144
|
|
NM_000330.4(RS1):c.337C>T (p.Leu113Phe)
|
rs61752145
|
|
NM_000330.4(RS1):c.33_36del (p.Leu11fs)
|
rs281865335
|
|
NM_000330.4(RS1):c.349_350insT (p.Gln117fs)
|
rs61752146
|
|
NM_000330.4(RS1):c.35T>A (p.Leu12His)
|
rs62645879
|
|
NM_000330.4(RS1):c.366G>C (p.Trp122Cys)
|
rs61752147
|
|
NM_000330.4(RS1):c.375_378del (p.Ile125_Asp126insTer)
|
rs61752148
|
|
NM_000330.4(RS1):c.380T>C (p.Leu127Pro)
|
rs61752149
|
|
NM_000330.4(RS1):c.38T>C (p.Leu13Pro)
|
rs104894935
|
|
NM_000330.4(RS1):c.392_393del (p.Lys131fs)
|
rs281865347
|
|
NM_000330.4(RS1):c.397A>T (p.Ile133Phe)
|
rs61752151
|
|
NM_000330.4(RS1):c.404G>T (p.Gly135Val)
|
rs61752152
|
|
NM_000330.4(RS1):c.407T>C (p.Ile136Thr)
|
rs61752153
|
|
NM_000330.4(RS1):c.412A>G (p.Thr138Ala)
|
rs61752154
|
|
NM_000330.4(RS1):c.418G>A (p.Gly140Arg)
|
rs61752156
|
|
NM_000330.4(RS1):c.419G>A (p.Gly140Glu)
|
rs61752157
|
|
NM_000330.4(RS1):c.421C>G (p.Arg141Gly)
|
rs61752158
|
|
NM_000330.4(RS1):c.421C>T (p.Arg141Cys)
|
rs61752158
|
|
NM_000330.4(RS1):c.422G>A (p.Arg141His)
|
rs61752159
|
|
NM_000330.4(RS1):c.426T>C (p.Cys142=)
|
rs1800001
|
|
NM_000330.4(RS1):c.426T>G (p.Cys142Trp)
|
rs1800001
|
|
NM_000330.4(RS1):c.426_427del (p.Cys142_Asp143delinsTer)
|
rs61753160
|
|
NM_000330.4(RS1):c.428A>T (p.Asp143Val)
|
rs61753161
|
|
NM_000330.4(RS1):c.436G>A (p.Glu146Lys)
|
rs61753162
|
|
NM_000330.4(RS1):c.438G>C (p.Glu146Asp)
|
rs61753163
|
|
NM_000330.4(RS1):c.460C>T (p.Gln154Ter)
|
rs61753164
|
|
NM_000330.4(RS1):c.464A>G (p.Tyr155Cys)
|
rs61753165
|
|
NM_000330.4(RS1):c.472G>A (p.Asp158Asn)
|
rs1800002
|
|
NM_000330.4(RS1):c.489G>A (p.Trp163Ter)
|
rs61753166
|
|
NM_000330.4(RS1):c.489G>T (p.Trp163Cys)
|
rs61753166
|
|
NM_000330.4(RS1):c.499A>T (p.Lys167Ter)
|
rs61753167
|
|
NM_000330.4(RS1):c.501G>C (p.Lys167Asn)
|
rs61753168
|
|
NM_000330.4(RS1):c.52+1G>A
|
rs281865336
|
|
NM_000330.4(RS1):c.52+1G>T
|
rs281865336
|
|
NM_000330.4(RS1):c.52+2T>C
|
rs281865334
|
|
NM_000330.4(RS1):c.52+2dup
|
rs281865337
|
|
NM_000330.4(RS1):c.52+5G>C
|
rs281865338
|
|
NM_000330.4(RS1):c.522+1G>A
|
rs281865348
|
|
NM_000330.4(RS1):c.522+1G>T
|
rs281865348
|
|
NM_000330.4(RS1):c.523-2A>G
|
rs281865349
|
|
NM_000330.4(RS1):c.533G>A (p.Gly178Asp)
|
rs61753169
|
|
NM_000330.4(RS1):c.535A>G (p.Asn179Asp)
|
rs61753170
|
|
NM_000330.4(RS1):c.53_77del (p.Ala18fs)
|
rs281865339
|
|
NM_000330.4(RS1):c.548_549dup (p.Ser184fs)
|
rs61753172
|
|
NM_000330.4(RS1):c.574C>A (p.Pro192Thr)
|
rs61753174
|
|
NM_000330.4(RS1):c.574C>T (p.Pro192Ser)
|
rs61753174
|
|
NM_000330.4(RS1):c.575C>G (p.Pro192Arg)
|
rs61753175
|
|
NM_000330.4(RS1):c.576_577insT (p.Pro193fs)
|
rs281865350
|
|
NM_000330.4(RS1):c.577C>T (p.Pro193Ser)
|
rs281865351
|
|
NM_000330.4(RS1):c.578C>T (p.Pro193Leu)
|
rs281865352
|
|
NM_000330.4(RS1):c.579dup (p.Ile194fs)
|
rs199469697
|
|
NM_000330.4(RS1):c.589C>T (p.Arg197Cys)
|
rs281865354
|
|
NM_000330.4(RS1):c.590G>C (p.Arg197Pro)
|
rs281865355
|
|
NM_000330.4(RS1):c.596T>C (p.Ile199Thr)
|
rs281865356
|
|
NM_000330.4(RS1):c.598C>T (p.Arg200Cys)
|
rs281865357
|
|
NM_000330.4(RS1):c.599G>A (p.Arg200His)
|
rs281865358
|
|
NM_000330.4(RS1):c.606C>T (p.Ile202=)
|
rs1800003
|
|
NM_000330.4(RS1):c.608C>T (p.Pro203Leu)
|
rs104894930
|
|
NM_000330.4(RS1):c.618G>A (p.Trp206Ter)
|
rs281865359
|
|
NM_000330.4(RS1):c.621C>G (p.His207Gln)
|
rs281865360
|
|
NM_000330.4(RS1):c.625C>G (p.Arg209Gly)
|
rs281865361
|
|
NM_000330.4(RS1):c.625C>T (p.Arg209Cys)
|
rs281865361
|
|
NM_000330.4(RS1):c.626G>A (p.Arg209His)
|
rs281865362
|
|
NM_000330.4(RS1):c.631G>A (p.Ala211Thr)
|
rs281865363
|
|
NM_000330.4(RS1):c.637C>T (p.Arg213Trp)
|
rs281865365
|
|
NM_000330.4(RS1):c.638G>A (p.Arg213Gln)
|
rs281865364
|
|
NM_000330.4(RS1):c.639del (p.Met214fs)
|
rs281865366
|
|
NM_000330.4(RS1):c.643G>A (p.Glu215Lys)
|
rs281865367
|
|
NM_000330.4(RS1):c.643G>C (p.Glu215Gln)
|
rs281865367
|
|
NM_000330.4(RS1):c.647T>C (p.Leu216Pro)
|
rs281865368
|
|
NM_000330.4(RS1):c.655T>C (p.Cys219Arg)
|
rs281865369
|
|
NM_000330.4(RS1):c.655del (p.Cys219fs)
|
rs281865370
|
|
NM_000330.4(RS1):c.658_*7del (p.Val220fs)
|
rs281865371
|
|
NM_000330.4(RS1):c.666G>C (p.Lys222Asn)
|
rs1800004
|
|
NM_000330.4(RS1):c.68C>A (p.Ser23Ter)
|
rs62645882
|
|
NM_000330.4(RS1):c.76G>T (p.Glu26Ter)
|
rs140983930
|
|
NM_000330.4(RS1):c.78+1G>A
|
rs281865341
|
|
NM_000330.4(RS1):c.79-2A>G
|
rs281865340
|
|
NM_000350.2(ABCA4):c.3210_3211insGT (p.Ser1071Valfs)
|
rs61750064
|
|
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.1036A>T (p.Lys346Ter)
|
rs61751422
|
|
NM_000350.3(ABCA4):c.1066A>T (p.Lys356Ter)
|
rs61751391
|
|
NM_000350.3(ABCA4):c.1086T>G (p.Tyr362Ter)
|
rs61752390
|
|
NM_000350.3(ABCA4):c.108del (p.Leu37fs)
|
rs62642569
|
|
NM_000350.3(ABCA4):c.1100-14T>C
|
rs61753059
|
|
NM_000350.3(ABCA4):c.1220C>T (p.Ala407Val)
|
rs61751264
|
|
NM_000350.3(ABCA4):c.122G>A (p.Trp41Ter)
|
rs61751410
|
|
NM_000350.3(ABCA4):c.1248A>C (p.Ser416=)
|
rs61753960
|
|
NM_000350.3(ABCA4):c.1268A>C (p.His423Pro)
|
rs3112831
|
|
NM_000350.3(ABCA4):c.1272T>C (p.Val424=)
|
rs61748551
|
|
NM_000350.3(ABCA4):c.1317G>A (p.Trp439Ter)
|
rs61752391
|
|
NM_000350.3(ABCA4):c.1325T>C (p.Phe442Ser)
|
rs61752392
|
|
NM_000350.3(ABCA4):c.1341del (p.Gln447_Met448insTer)
|
rs61748553
|
|
NM_000350.3(ABCA4):c.1344del (p.Met448fs)
|
rs61748554
|
|
NM_000350.3(ABCA4):c.1356+10del
|
rs281865386
|
|
NM_000350.3(ABCA4):c.1356+5_1356+6insC
|
rs1553193877
|
|
NM_000350.3(ABCA4):c.1356+6G>C
|
rs281865387
|
|
NM_000350.3(ABCA4):c.1390_1391del (p.Leu464fs)
|
rs61748555
|
|
NM_000350.3(ABCA4):c.1506_1514del (p.Phe503_Ile505del)
|
rs62645953
|
|
NM_000350.3(ABCA4):c.1513_1517del (p.Asn504_Ile505insTer)
|
rs281865398
|
|
NM_000350.3(ABCA4):c.1528del (p.Leu510fs)
|
rs62646867
|
|
NM_000350.3(ABCA4):c.1554+1G>A
|
rs61752393
|
|
NM_000350.3(ABCA4):c.1555-1G>A
|
rs61752394
|
|
NM_000350.3(ABCA4):c.1575T>G (p.Phe525Leu)
|
rs62646869
|
|
NM_000350.3(ABCA4):c.160+1G>A
|
rs61748523
|
|
NM_000350.3(ABCA4):c.161-45G>T
|
rs61753048
|
|
NM_000350.3(ABCA4):c.161G>T (p.Cys54Phe)
|
rs150774447
|
|
NM_000350.3(ABCA4):c.1623A>G (p.Leu541=)
|
rs61753962
|
|
NM_000350.3(ABCA4):c.1645G>C (p.Ala549Pro)
|
rs61748557
|
|
NM_000350.3(ABCA4):c.1659C>G (p.Phe553Leu)
|
rs61752396
|
|
NM_000350.3(ABCA4):c.1715G>C (p.Arg572Pro)
|
rs61748559
|
|
NM_000350.3(ABCA4):c.174C>G (p.Asn58Lys)
|
rs61748524
|
|
NM_000350.3(ABCA4):c.1760+22G>T
|
rs61754020
|
|
NM_000350.3(ABCA4):c.1760+2T>G
|
rs61751385
|
|
NM_000350.3(ABCA4):c.1789C>T (p.Pro597Ser)
|
rs61751393
|
|
NM_000350.3(ABCA4):c.178G>A (p.Ala60Thr)
|
rs61751411
|
|
NM_000350.3(ABCA4):c.1798G>T (p.Asp600Tyr)
|
rs61752397
|
|
NM_000350.3(ABCA4):c.1811T>G (p.Ile604Ser)
|
rs61749411
|
|
NM_000350.3(ABCA4):c.1819G>T (p.Gly607Trp)
|
rs61749412
|
|
NM_000350.3(ABCA4):c.1822T>C (p.Phe608Leu)
|
rs61752398
|
|
NM_000350.3(ABCA4):c.1823T>A (p.Phe608Tyr)
|
rs61752399
|
|
NM_000350.3(ABCA4):c.1848del (p.Glu616fs)
|
rs61751386
|
|
NM_000350.3(ABCA4):c.1853G>A (p.Gly618Glu)
|
rs61751394
|
|
NM_000350.3(ABCA4):c.1894del (p.Ile632fs)
|
rs61749413
|
|
NM_000350.3(ABCA4):c.1903C>A (p.Gln635Lys)
|
rs61749414
|
|
NM_000350.3(ABCA4):c.1908G>T (p.Gln636His)
|
rs61752400
|
|
NM_000350.3(ABCA4):c.1917C>A (p.Tyr639Ter)
|
rs61749415
|
|
NM_000350.3(ABCA4):c.1922G>C (p.Cys641Ser)
|
rs61749416
|
|
NM_000350.3(ABCA4):c.1933G>A (p.Asp645Asn)
|
rs61749418
|
|
NM_000350.3(ABCA4):c.1937+2T>C
|
rs61749419
|
|
NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu)
|
rs62654395
|
|
NM_000350.3(ABCA4):c.1989G>A (p.Trp663Ter)
|
rs61749421
|
|
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.2057T>C (p.Leu686Ser)
|
rs61752402
|
|
NM_000350.3(ABCA4):c.2090G>A (p.Trp697Ter)
|
rs61749424
|
|
NM_000350.3(ABCA4):c.2099G>A (p.Trp700Ter)
|
rs61749425
|
|
NM_000350.3(ABCA4):c.2160+1G>C
|
rs61749427
|
|
NM_000350.3(ABCA4):c.2292del (p.Ala763_Cys764insTer)
|
rs61752403
|
|
NM_000350.3(ABCA4):c.2294G>A (p.Ser765Asn)
|
rs61749429
|
|
NM_000350.3(ABCA4):c.2295T>G (p.Ser765Arg)
|
rs61752404
|
|
NM_000350.3(ABCA4):c.230T>A (p.Val77Glu)
|
rs61748527
|
|
NM_000350.3(ABCA4):c.2337C>A (p.Cys779Ter)
|
rs61749430
|
|
NM_000350.3(ABCA4):c.234C>T (p.Asn78=)
|
rs61753049
|
|
NM_000350.3(ABCA4):c.2385_2400del (p.Ser795fs)
|
rs281865399
|
|
NM_000350.3(ABCA4):c.2390T>C (p.Leu797Pro)
|
rs61749432
|
|
NM_000350.3(ABCA4):c.2409_2410del (p.Phe804fs)
|
rs61752405
|
|
NM_000350.3(ABCA4):c.247_250del (p.Gln83fs)
|
rs61748528
|
|
NM_000350.3(ABCA4):c.249_250insCAAA (p.Ser84fs)
|
rs61751390
|
|
NM_000350.3(ABCA4):c.2536G>C (p.Asp846His)
|
rs61754027
|
|
NM_000350.3(ABCA4):c.2552G>A (p.Gly851Asp)
|
rs61749436
|
|
NM_000350.3(ABCA4):c.2565G>A (p.Trp855Ter)
|
rs61749438
|
|
NM_000350.3(ABCA4):c.2571del (p.Asp858fs)
|
rs61752407
|
|
NM_000350.3(ABCA4):c.2585C>T (p.Pro862Leu)
|
rs61751382
|
|
NM_000350.3(ABCA4):c.2587+1G>A
|
rs61749439
|
|
NM_000350.3(ABCA4):c.2616_2617del (p.Phe873fs)
|
rs62642560
|
|
NM_000350.3(ABCA4):c.2653+60G>C
|
rs61754028
|
|
NM_000350.3(ABCA4):c.2654-21A>T
|
rs61754029
|
|
NM_000350.3(ABCA4):c.2703A>T (p.Thr901=)
|
rs61749442
|
|
NM_000350.3(ABCA4):c.2744-38del
|
rs281865389
|
|
NM_000350.3(ABCA4):c.2804T>C (p.Val935Ala)
|
rs61749444
|
|
NM_000350.3(ABCA4):c.2820C>G (p.Pro940=)
|
rs61749445
|
|
NM_000350.3(ABCA4):c.2827C>G (p.Arg943Gly)
|
rs61749446
|
|
NM_000350.3(ABCA4):c.2827del (p.Arg943fs)
|
rs281865513
|
|
NM_000350.3(ABCA4):c.2860T>G (p.Tyr954Asp)
|
rs61749447
|
|
NM_000350.3(ABCA4):c.286A>C (p.Asn96His)
|
rs61748529
|
|
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp)
|
rs61748529
|
|
NM_000350.3(ABCA4):c.2876C>T (p.Thr959Ile)
|
rs61752409
|
|
NM_000350.3(ABCA4):c.2884del (p.Leu962fs)
|
rs61750203
|
|
NM_000350.3(ABCA4):c.2888del (p.Gly963fs)
|
rs61752410
|
|
NM_000350.3(ABCA4):c.2893A>G (p.Asn965Asp)
|
rs61749449
|
|
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.2932G>T (p.Gly978Cys)
|
rs61749452
|
|
NM_000350.3(ABCA4):c.2933G>A (p.Gly978Asp)
|
rs61749453
|
|
NM_000350.3(ABCA4):c.2948C>T (p.Thr983Ile)
|
rs61752411
|
|
NM_000350.3(ABCA4):c.296dup (p.Asn99fs)
|
rs62645948
|
|
NM_000350.3(ABCA4):c.2971G>T (p.Gly991Ter)
|
rs61749455
|
|
NM_000350.3(ABCA4):c.2977_2984del (p.Asp993fs)
|
rs281865401
|
|
NM_000350.3(ABCA4):c.303-71del
|
rs4147877
|
|
NM_000350.3(ABCA4):c.3055A>G (p.Thr1019Ala)
|
rs61749457
|
|
NM_000350.3(ABCA4):c.3057G>T (p.Thr1019=)
|
rs61749458
|
|
NM_000350.3(ABCA4):c.3085C>T (p.Gln1029Ter)
|
rs61751397
|
|
NM_000350.3(ABCA4):c.3091A>G (p.Lys1031Glu)
|
rs61750060
|
|
NM_000350.3(ABCA4):c.3187T>C (p.Ser1063Pro)
|
rs61752413
|
|
NM_000350.3(ABCA4):c.3190+1G>T
|
rs61752414
|
|
NM_000350.3(ABCA4):c.3190+83A>T
|
rs61754035
|
|
NM_000350.3(ABCA4):c.3191-2A>G
|
rs61752415
|
|
NM_000350.3(ABCA4):c.3205_3206dup (p.Leu1070fs)
|
rs61750063
|
|
NM_000350.3(ABCA4):c.3216T>C (p.Val1072=)
|
rs61750066
|
|
NM_000350.3(ABCA4):c.3261A>C (p.Glu1087Asp)
|
rs61752416
|
|
NM_000350.3(ABCA4):c.3272G>A (p.Gly1091Glu)
|
rs61752417
|
|
NM_000350.3(ABCA4):c.3278A>G (p.Asp1093Gly)
|
rs61752418
|
|
NM_000350.3(ABCA4):c.327dup (p.Gln110fs)
|
rs61748531
|
|
NM_000350.3(ABCA4):c.3295T>C (p.Ser1099Pro)
|
rs61750119
|
|
NM_000350.3(ABCA4):c.3303G>A (p.Trp1101Ter)
|
rs61752419
|
|
NM_000350.3(ABCA4):c.3323G>T (p.Arg1108Leu)
|
rs61750121
|
|
NM_000350.3(ABCA4):c.3366G>C (p.Glu1122Asp)
|
rs61750123
|
|
NM_000350.3(ABCA4):c.3393del (p.Ile1132fs)
|
rs61750124
|
|
NM_000350.3(ABCA4):c.3439del (p.Phe1146_Leu1147insTer)
|
rs61752420
|
|
NM_000350.3(ABCA4):c.3527_3528insTGCA (p.Cys1177fs)
|
rs62645954
|
|
NM_000350.3(ABCA4):c.3531C>A (p.Cys1177Ter)
|
rs61750125
|
|
NM_000350.3(ABCA4):c.3607+1G>A
|
rs61752421
|
|
NM_000350.3(ABCA4):c.3607+32G>A
|
rs281865390
|
|
NM_000350.3(ABCA4):c.3608-16T>A
|
rs61754039
|
|
NM_000350.3(ABCA4):c.3696T>G (p.Leu1232=)
|
rs61754040
|
|
NM_000350.3(ABCA4):c.3703A>G (p.Asn1235Asp)
|
rs61752422
|
|
NM_000350.3(ABCA4):c.3749T>C (p.Leu1250Pro)
|
rs61750128
|
|
NM_000350.3(ABCA4):c.3754G>T (p.Glu1252Ter)
|
rs61752423
|
|
NM_000350.3(ABCA4):c.3808G>T (p.Glu1270Ter)
|
rs61752425
|
|
NM_000350.3(ABCA4):c.3819dup (p.Leu1274fs)
|
rs281865514
|
|
NM_000350.3(ABCA4):c.3840_3845del (p.1279DS[1])
|
rs62642572
|
|
NM_000350.3(ABCA4):c.3862+1G>A
|
rs61751400
|
|
NM_000350.3(ABCA4):c.38_46del (p.Lys13_Trp15del)
|
rs62645956
|
|
NM_000350.3(ABCA4):c.4036_4037dup (p.Gly1347fs)
|
rs61751401
|
|
NM_000350.3(ABCA4):c.4073T>C (p.Leu1358Pro)
|
rs61752429
|
|
NM_000350.3(ABCA4):c.4129-35A>T
|
rs61754042
|
|
NM_000350.3(ABCA4):c.4129-71A>T
|
rs61754043
|
|
NM_000350.3(ABCA4):c.4163T>C (p.Leu1388Pro)
|
rs61750131
|
|
NM_000350.3(ABCA4):c.4200C>T (p.Tyr1400=)
|
rs61750132
|
|
NM_000350.3(ABCA4):c.4203C>A (p.Pro1401=)
|
rs1801666
|
|
NM_000350.3(ABCA4):c.4216C>T (p.His1406Tyr)
|
rs61750133
|
|
NM_000350.3(ABCA4):c.4223G>T (p.Trp1408Leu)
|
rs61750134
|
|
NM_000350.3(ABCA4):c.4228_4231dup (p.Gly1411fs)
|
rs61750136
|
|
NM_000350.3(ABCA4):c.4253+1G>T
|
rs61750139
|
|
NM_000350.3(ABCA4):c.4253+5G>T
|
rs61750138
|
|
NM_000350.3(ABCA4):c.4254-2A>G
|
rs61752431
|
|
NM_000350.3(ABCA4):c.4286T>C (p.Val1429Ala)
|
rs61752432
|
|
NM_000350.3(ABCA4):c.4316G>A (p.Gly1439Asp)
|
rs61750140
|
|
NM_000350.3(ABCA4):c.4318T>G (p.Phe1440Val)
|
rs61752433
|
|
NM_000350.3(ABCA4):c.4319T>C (p.Phe1440Ser)
|
rs61750141
|
|
NM_000350.3(ABCA4):c.4346G>A (p.Trp1449Ter)
|
rs61750143
|
|
NM_000350.3(ABCA4):c.4353-1G>T
|
rs61750144
|
|
NM_000350.3(ABCA4):c.4463G>A (p.Cys1488Tyr)
|
rs61750147
|
|
NM_000350.3(ABCA4):c.4468T>A (p.Cys1490Ser)
|
rs61750148
|
|
NM_000350.3(ABCA4):c.4506C>A (p.Cys1502Ter)
|
rs61750149
|
|
NM_000350.3(ABCA4):c.4535C>G (p.Pro1512Arg)
|
rs61750150
|
|
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs)
|
rs281865377
|
|
NM_000350.3(ABCA4):c.4539+1G>T
|
rs61751388
|
|
NM_000350.3(ABCA4):c.4539+24del
|
rs61754052
|
|
NM_000350.3(ABCA4):c.4539+35G>C
|
rs61754049
|
|
NM_000350.3(ABCA4):c.4539+3A>G
|
rs61754051
|
|
NM_000350.3(ABCA4):c.4540-2A>G
|
rs61752435
|
|
NM_000350.3(ABCA4):c.4549C>A (p.Arg1517Ser)
|
rs1800550
|
|
NM_000350.3(ABCA4):c.4574T>C (p.Leu1525Pro)
|
rs61750151
|
|
NM_000350.3(ABCA4):c.45G>A (p.Trp15Ter)
|
rs62645957
|
|
NM_000350.3(ABCA4):c.4668-15C>T
|
rs61754054
|
|
NM_000350.3(ABCA4):c.4710del (p.Ile1571fs)
|
rs281865381
|
|
NM_000350.3(ABCA4):c.4714A>T (p.Thr1572Ser)
|
rs62641255
|
|
NM_000350.3(ABCA4):c.4773+1G>T
|
rs61751376
|
|
NM_000350.3(ABCA4):c.4773+2T>C
|
rs61752437
|
|
NM_000350.3(ABCA4):c.4774-2A>C
|
rs61750154
|
|
NM_000350.3(ABCA4):c.481G>A (p.Glu161Lys)
|
rs62645943
|
|
NM_000350.3(ABCA4):c.4838del (p.Asp1613fs)
|
rs61752438
|
|
NM_000350.3(ABCA4):c.4849-1G>C
|
rs61750156
|
|
NM_000350.3(ABCA4):c.4854G>A (p.Trp1618Ter)
|
rs61752439
|
|
NM_000350.3(ABCA4):c.4867G>A (p.Gly1623Ser)
|
rs61750157
|
|
NM_000350.3(ABCA4):c.4875T>A (p.His1625Gln)
|
rs61752440
|
|
NM_000350.3(ABCA4):c.4892T>C (p.Leu1631Pro)
|
rs61750158
|
|
NM_000350.3(ABCA4):c.4947del (p.Glu1650fs)
|
rs61750159
|
|
NM_000350.3(ABCA4):c.4954T>G (p.Tyr1652Asp)
|
rs61750560
|
|
NM_000350.3(ABCA4):c.4956T>G (p.Tyr1652Ter)
|
rs61750561
|
|
NM_000350.3(ABCA4):c.5018+2T>A
|
rs61750562
|
|
NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del)
|
rs62646872
|
|
NM_000350.3(ABCA4):c.5065T>C (p.Ser1689Pro)
|
rs61753020
|
|
NM_000350.3(ABCA4):c.5107C>G (p.Gln1703Glu)
|
rs61750565
|
|
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.5196+2T>C
|
rs61751405
|
|
NM_000350.3(ABCA4):c.5196+2T>G
|
rs61751405
|
|
NM_000350.3(ABCA4):c.5196+3_5196+6del
|
rs61753023
|
|
NM_000350.3(ABCA4):c.5196+3_5196+8del
|
rs61753024
|
|
NM_000350.3(ABCA4):c.5212_5222del (p.Ser1738fs)
|
rs281865403
|
|
NM_000350.3(ABCA4):c.5222_5232del (p.Leu1741fs)
|
rs61750569
|
|
NM_000350.3(ABCA4):c.5223_5233del (p.Val1742fs)
|
rs61750570
|
|
NM_000350.3(ABCA4):c.5248C>T (p.Gln1750Ter)
|
rs61753026
|
|
NM_000350.3(ABCA4):c.5281_5289del (p.Pro1761_Leu1763del)
|
rs61753027
|
|
NM_000350.3(ABCA4):c.5288T>C (p.Leu1763Pro)
|
rs61753028
|
|
NM_000350.3(ABCA4):c.5327_5328delinsTG (p.Pro1776Leu)
|
rs281865404
|
|
NM_000350.3(ABCA4):c.5337C>A (p.Tyr1779Ter)
|
rs61750573
|
|
NM_000350.3(ABCA4):c.5395A>G (p.Asn1799Asp)
|
rs61750574
|
|
NM_000350.3(ABCA4):c.5459G>C (p.Arg1820Pro)
|
rs62646875
|
|
NM_000350.3(ABCA4):c.5460+1G>A
|
rs61753030
|
|
NM_000350.3(ABCA4):c.5461-36del
|
rs61754661
|
|
NM_000350.3(ABCA4):c.5461-44dup
|
rs281865391
|
|
NM_000350.3(ABCA4):c.5461-50_5461-49insA
|
rs281865393
|
|
NM_000350.3(ABCA4):c.5512C>G (p.His1838Asp)
|
rs62642562
|
|
NM_000350.3(ABCA4):c.5512C>T (p.His1838Tyr)
|
rs62642562
|
|
NM_000350.3(ABCA4):c.5527C>T (p.Arg1843Trp)
|
rs62642576
|
|
NM_000350.3(ABCA4):c.5584+5G>A
|
rs61750576
|
|
NM_000350.3(ABCA4):c.5584+6T>C
|
rs61750633
|
|
NM_000350.3(ABCA4):c.5585-10T>C
|
rs61753031
|
|
NM_000350.3(ABCA4):c.5585-17T>A
|
rs61754664
|
|
NM_000350.3(ABCA4):c.5585-1G>A
|
rs61750634
|
|
NM_000350.3(ABCA4):c.5644A>G (p.Met1882Val)
|
rs62642577
|
|
NM_000350.3(ABCA4):c.5651T>A (p.Val1884Glu)
|
rs62642578
|
|
NM_000350.3(ABCA4):c.5653G>A (p.Glu1885Lys)
|
rs62642563
|
|
NM_000350.3(ABCA4):c.5668_5670del (p.Phe1890del)
|
rs61750635
|
|
NM_000350.3(ABCA4):c.5687T>A (p.Val1896Asp)
|
rs61750636
|
|
NM_000350.3(ABCA4):c.570G>C (p.Gln190His)
|
rs281865397
|
|
NM_000350.3(ABCA4):c.571-1G>T
|
rs61748533
|
|
NM_000350.3(ABCA4):c.571-29G>T
|
rs61753052
|
|
NM_000350.3(ABCA4):c.571-2A>G
|
rs61748534
|
|
NM_000350.3(ABCA4):c.5836-16dup
|
rs281865395
|
|
NM_000350.3(ABCA4):c.5836-2del
|
rs61750637
|
|
NM_000350.3(ABCA4):c.5836-36TC[3]
|
rs281865396
|
|
NM_000350.3(ABCA4):c.5836-40C>A
|
rs281865394
|
|
NM_000350.3(ABCA4):c.5886T>C (p.Val1962=)
|
rs62642568
|
|
NM_000350.3(ABCA4):c.5888del (p.Arg1963fs)
|
rs62642059
|
|
NM_000350.3(ABCA4):c.5898+1G>T
|
rs61750638
|
|
NM_000350.3(ABCA4):c.5912T>G (p.Leu1971Arg)
|
rs61753034
|
|
NM_000350.3(ABCA4):c.5914G>A (p.Gly1972Arg)
|
rs61753035
|
|
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)
|
rs61751389
|
|
NM_000350.3(ABCA4):c.5923G>C (p.Gly1975Arg)
|
rs61753036
|
|
NM_000350.3(ABCA4):c.5936C>T (p.Thr1979Ile)
|
rs61753037
|
|
NM_000350.3(ABCA4):c.5951_5952inv (p.Met1984Thr)
|
|
|
NM_000350.3(ABCA4):c.5961_5964del (p.Asp1988fs)
|
rs61750640
|
|
NM_000350.3(ABCA4):c.6005+1G>T
|
rs61748517
|
|
NM_000350.3(ABCA4):c.6006-16G>A
|
rs4147863
|
|
NM_000350.3(ABCA4):c.6076C>T (p.Leu2026=)
|
rs61748518
|
|
NM_000350.3(ABCA4):c.6104T>C (p.Leu2035Pro)
|
rs61750642
|
|
NM_000350.3(ABCA4):c.6166A>T (p.Lys2056Ter)
|
rs61750644
|
|
NM_000350.3(ABCA4):c.6179T>G (p.Leu2060Arg)
|
rs61753039
|
|
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg)
|
rs61748536
|
|
NM_000350.3(ABCA4):c.6190G>C (p.Ala2064Pro)
|
rs61753040
|
|
NM_000350.3(ABCA4):c.6213C>T (p.Tyr2071=)
|
rs62642580
|
|
NM_000350.3(ABCA4):c.6229C>G (p.Arg2077Gly)
|
rs61750645
|
|
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.6276G>A (p.Val2092=)
|
rs61753042
|
|
NM_000350.3(ABCA4):c.6300del (p.Met2101fs)
|
rs61750647
|
|
NM_000350.3(ABCA4):c.6320G>C (p.Arg2107Pro)
|
rs62642564
|
|
NM_000350.3(ABCA4):c.6329G>A (p.Trp2110Ter)
|
rs62642565
|
|
NM_000350.3(ABCA4):c.6339C>G (p.Ile2113Met)
|
rs61750649
|
|
NM_000350.3(ABCA4):c.6352del (p.Arg2118fs)
|
rs61750650
|
|
NM_000350.3(ABCA4):c.6415C>T (p.Arg2139Trp)
|
rs61750653
|
|
NM_000350.3(ABCA4):c.6437G>A (p.Gly2146Asp)
|
rs61753044
|
|
NM_000350.3(ABCA4):c.6446G>T (p.Arg2149Leu)
|
rs61750655
|
|
NM_000350.3(ABCA4):c.6479A>G (p.Lys2160Arg)
|
rs281865405
|
|
NM_000350.3(ABCA4):c.6498C>G (p.Ile2166Met)
|
rs61751379
|
|
NM_000350.3(ABCA4):c.6519_6529del (p.Lys2175fs)
|
rs63749079
|
|
NM_000350.3(ABCA4):c.6545_6580del (p.Leu2182_Phe2193del)
|
rs63749058
|
|
NM_000350.3(ABCA4):c.6568del (p.Gln2190fs)
|
rs61751381
|
|
NM_000350.3(ABCA4):c.6601_6602del (p.Arg2201fs)
|
rs61751409
|
|
NM_000350.3(ABCA4):c.6609C>A (p.Tyr2203Ter)
|
rs61753045
|
|
NM_000350.3(ABCA4):c.664del (p.Ala222fs)
|
rs61748539
|
|
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)
|
rs61753046
|
|
NM_000350.3(ABCA4):c.666_676del (p.Lys223fs)
|
rs63749056
|
|
NM_000350.3(ABCA4):c.666_678del (p.Lys223fs)
|
rs63749055
|
|
NM_000350.3(ABCA4):c.667_678del (p.Lys223_Arg226del)
|
rs63749081
|
|
NM_000350.3(ABCA4):c.667_680del (p.Lys223fs)
|
rs63749082
|
|
NM_000350.3(ABCA4):c.6693C>T (p.Ile2231=)
|
rs1801626
|
|
NM_000350.3(ABCA4):c.6707_6714del (p.Val2236fs)
|
rs62646877
|
|
NM_000350.3(ABCA4):c.6708_6709insG (p.Thr2237fs)
|
rs61751260
|
|
NM_000350.3(ABCA4):c.6709dup (p.Thr2237fs)
|
rs281865383
|
|
NM_000350.3(ABCA4):c.671del (p.Thr224fs)
|
rs61751417
|
|
NM_000350.3(ABCA4):c.6729+1G>A
|
rs61751261
|
|
NM_000350.3(ABCA4):c.6730-27C>G
|
rs61748522
|
|
NM_000350.3(ABCA4):c.6750del (p.Lys2250fs)
|
rs281865406
|
|
NM_000350.3(ABCA4):c.6788G>T (p.Arg2263Leu)
|
rs281865407
|
|
NM_000350.3(ABCA4):c.6813C>T (p.Ala2271=)
|
rs281865384
|
|
NM_000350.3(ABCA4):c.730_731del (p.Leu244fs)
|
rs62645949
|
|
NM_000350.3(ABCA4):c.731T>C (p.Leu244Pro)
|
rs62646864
|
|
NM_000350.3(ABCA4):c.740A>T (p.Asn247Ile)
|
rs62645950
|
|
NM_000350.3(ABCA4):c.746A>G (p.Asp249Gly)
|
rs62646865
|
|
NM_000350.3(ABCA4):c.763C>G (p.Arg255Gly)
|
rs62645952
|
|
NM_000350.3(ABCA4):c.769-1G>T
|
rs61748542
|
|
NM_000350.3(ABCA4):c.769-5T>G
|
rs61750201
|
|
NM_000350.3(ABCA4):c.832del (p.Ser278fs)
|
rs61748543
|
|
NM_000350.3(ABCA4):c.859-11C>T
|
rs61753053
|
|
NM_000350.3(ABCA4):c.899C>A (p.Thr300Asn)
|
rs61748544
|
|
NM_000350.3(ABCA4):c.982G>T (p.Glu328Ter)
|
rs61751418
|
|
NM_000350.3(ABCA4):c.983A>T (p.Glu328Val)
|
rs61751419
|
|
NM_000350.3(ABCA4):c.989G>A (p.Gly330Asp)
|
rs61753058
|
|
NM_000372.4(TYR):c.-683_-682insG
|
rs281865329
|
|
NM_000372.4(TYR):c.-692_-691insC
|
rs281865330
|
|
NM_000372.4(TYR):c.-802_-801insGAGAGGGAGA
|
rs281865331
|
|
NM_000372.5(TYR):c.1015A>G (p.Ser339Gly)
|
rs62645906
|
|
NM_000372.5(TYR):c.1018T>C (p.Phe340Leu)
|
rs62645907
|
|
NM_000372.5(TYR):c.107G>A (p.Cys36Tyr)
|
rs61753179
|
|
NM_000372.5(TYR):c.1081A>C (p.Ser361Arg)
|
rs61754383
|
|
NM_000372.5(TYR):c.1100A>G (p.His367Arg)
|
rs61754384
|
|
NM_000372.5(TYR):c.1109T>C (p.Met370Thr)
|
rs61754385
|
|
NM_000372.5(TYR):c.1126C>T (p.Gln376Ter)
|
rs61754389
|
|
NM_000372.5(TYR):c.1138T>C (p.Ser380Pro)
|
rs61754391
|
|
NM_000372.5(TYR):c.1146C>A (p.Asn382Lys)
|
rs104894315
|
|
NM_000372.5(TYR):c.1161del (p.Leu388fs)
|
rs281865521
|
|
NM_000372.5(TYR):c.1164del (p.His389fs)
|
rs281865522
|
|
NM_000372.5(TYR):c.1168C>G (p.His390Asp)
|
rs62645914
|
|
NM_000372.5(TYR):c.1183A>G (p.Ser395Gly)
|
rs62645915
|
|
NM_000372.5(TYR):c.1211A>C (p.His404Pro)
|
rs62645920
|
|
NM_000372.5(TYR):c.125A>G (p.Asp42Gly)
|
rs28940878
|
|
NM_000372.5(TYR):c.1292C>T (p.Pro431Leu)
|
rs281865325
|
|
NM_000372.5(TYR):c.1314_1317del (p.Phe438fs)
|
rs281865326
|
|
NM_000372.5(TYR):c.1342G>A (p.Asp448Asn)
|
rs104894318
|
|
NM_000372.5(TYR):c.1357C>T (p.Gln453Ter)
|
rs62645924
|
|
NM_000372.5(TYR):c.1366+5A>G
|
rs61754397
|
|
NM_000372.5(TYR):c.149C>G (p.Ser50Ter)
|
rs61753181
|
|
NM_000372.5(TYR):c.155G>T (p.Arg52Ile)
|
rs61753182
|
|
NM_000372.5(TYR):c.223del (p.Asp75fs)
|
rs281865523
|
|
NM_000372.5(TYR):c.232G>T (p.Glu78Ter)
|
rs61753186
|
|
NM_000372.5(TYR):c.240G>A (p.Trp80Ter)
|
rs61753189
|
|
NM_000372.5(TYR):c.25del (p.Leu9fs)
|
rs281865524
|
|
NM_000372.5(TYR):c.286dup (p.Met96fs)
|
rs61753190
|
|
NM_000372.5(TYR):c.338_339del (p.Thr113fs)
|
rs61753254
|
|
NM_000372.5(TYR):c.344_345del (p.Arg115fs)
|
rs61753255
|
|
NM_000372.5(TYR):c.456C>T (p.Pro152=)
|
rs61753257
|
|
NM_000372.5(TYR):c.458dup (p.Gly154fs)
|
rs61753258
|
|
NM_000372.5(TYR):c.526T>A (p.Phe176Ile)
|
rs61753259
|
|
NM_000372.5(TYR):c.53del (p.Gly18fs)
|
rs61753176
|
|
NM_000372.5(TYR):c.572del (p.Gly191fs)
|
rs61754361
|
|
NM_000372.5(TYR):c.57T>A (p.His19Gln)
|
rs61753177
|
|
NM_000372.5(TYR):c.616G>A (p.Ala206Thr)
|
rs28940880
|
|
NM_000372.5(TYR):c.649C>G (p.Arg217Gly)
|
rs63159160
|
|
NM_000372.5(TYR):c.680_682del (p.Gly227del)
|
rs61754366
|
|
NM_000372.5(TYR):c.707G>C (p.Trp236Ser)
|
rs61754367
|
|
NM_000372.5(TYR):c.732_733del (p.Cys244_Asp245delinsTer)
|
rs61754368
|
|
NM_000372.5(TYR):c.757G>A (p.Gly253Arg)
|
rs61754369
|
|
NM_000372.5(TYR):c.816G>C (p.Trp272Cys)
|
rs62645902
|
|
NM_000372.5(TYR):c.820-3C>G
|
rs61754371
|
|
NM_000372.5(TYR):c.841del (p.Glu281fs)
|
rs281865526
|
|
NM_000372.5(TYR):c.891A>G (p.Leu297=)
|
rs61754373
|
|
NM_000372.5(TYR):c.895C>A (p.Arg299Ser)
|
rs61754374
|
|
NM_000372.5(TYR):c.929dup (p.Arg311fs)
|
rs281865527
|
|
NM_000372.5(TYR):c.934C>G (p.Leu312Val)
|
rs61754377
|
|
NM_000372.5(TYR):c.938C>G (p.Pro313Arg)
|
rs61754378
|
|
NM_000372.5(TYR):c.973A>G (p.Thr325Ala)
|
rs61754379
|
|
NM_000372.5(TYR):c.982G>C (p.Glu328Gln)
|
rs61754380
|
|
NM_000554.6(CRX):c.100+2T>C
|
rs281865198
|
|
NM_000554.6(CRX):c.101-13C>G
|
rs281865199
|
|
NM_000554.6(CRX):c.101-65A>T
|
rs281865200
|
|
NM_000554.6(CRX):c.238G>A (p.Glu80Lys)
|
rs62654391
|
|
NM_000554.6(CRX):c.239A>C (p.Glu80Ala)
|
rs104894671
|
|
NM_000554.6(CRX):c.24dup (p.Pro9fs)
|
rs62636512
|
|
NM_000554.6(CRX):c.253-18T>A
|
rs281865201
|
|
NM_000554.6(CRX):c.351dup (p.Lys118fs)
|
rs61748440
|
|
NM_000554.6(CRX):c.436_447del (p.Leu146_Pro149del)
|
rs281865202
|
|
NM_000554.6(CRX):c.447dup (p.Ser150fs)
|
rs61748444
|
|
NM_000554.6(CRX):c.503_504del (p.Glu168fs)
|
rs61748446
|
|
NM_000554.6(CRX):c.505del (p.Ser169fs)
|
rs61748447
|
|
NM_000554.6(CRX):c.520del (p.Ala174fs)
|
rs281865515
|
|
NM_000554.6(CRX):c.529del (p.Ala177fs)
|
rs61748449
|
|
NM_000554.6(CRX):c.541del (p.Ala181fs)
|
rs61748450
|
|
NM_000554.6(CRX):c.571del (p.Tyr191fs)
|
rs61748452
|
|
NM_000554.6(CRX):c.585dup (p.Ala196fs)
|
rs61748453
|
|
NM_000554.6(CRX):c.587_590del (p.Ala196fs)
|
rs61748454
|
|
NM_000554.6(CRX):c.615del (p.Ser206fs)
|
rs281865516
|
|
NM_000554.6(CRX):c.650del (p.Gly217fs)
|
rs281865517
|
|
NM_000554.6(CRX):c.709del (p.Leu237fs)
|
rs281865518
|
|
NM_000554.6(CRX):c.753del (p.Ser252fs)
|
rs61749660
|
|
NM_000554.6(CRX):c.789del (p.Val264fs)
|
rs281865519
|
|
NM_000843.4(GRM6):c.172G>C (p.Gly58Arg)
|
rs62638198
|
|
NM_000843.4(GRM6):c.1958G>A (p.Arg653His)
|
rs62638622
|
|
NM_000843.4(GRM6):c.336C>T (p.Phe112=)
|
rs62638200
|
|
NM_000843.4(GRM6):c.57_75dup (p.Leu26fs)
|
rs281865185
|
|
NM_000843.4(GRM6):c.686G>A (p.Gly229Glu)
|
rs62638205
|
|
NM_000843.4(GRM6):c.727G>T (p.Val243Phe)
|
rs17078894
|
|
NM_000843.4(GRM6):c.727dup
|
rs281865186
|
|
NM_000843.4(GRM6):c.83G>A (p.Arg28His)
|
rs62638196
|
|
NM_001034853.2(RPGR):c.101del (p.Asn34fs)
|
rs281865295
|
|
NM_001034853.2(RPGR):c.1092dup (p.Ala365fs)
|
rs281865301
|
|
NM_001034853.2(RPGR):c.1100del (p.Pro367fs)
|
rs62635000
|
|
NM_001034853.2(RPGR):c.1120G>T (p.Glu374Ter)
|
rs62635001
|
|
NM_001034853.2(RPGR):c.1243_1244dup (p.Glu416fs)
|
rs281865302
|
|
NM_001034853.2(RPGR):c.1245+3A>G
|
rs62635002
|
|
NM_001034853.2(RPGR):c.1261_1279del (p.Ser421fs)
|
rs281865303
|
|
NM_001034853.2(RPGR):c.127G>A (p.Gly43Arg)
|
rs62638629
|
|
NM_001034853.2(RPGR):c.128G>A (p.Gly43Glu)
|
rs62638630
|
|
NM_001034853.2(RPGR):c.1307G>A (p.Gly436Asp)
|
rs62635004
|
|
NM_001034853.2(RPGR):c.1377_1378del (p.Leu460fs)
|
rs62653029
|
|
NM_001034853.2(RPGR):c.1402_1405del (p.Pro468fs)
|
rs62653030
|
|
NM_001034853.2(RPGR):c.1477del (p.Gly494fs)
|
rs62635005
|
|
NM_001034853.2(RPGR):c.1478T>A (p.Leu493His)
|
rs62635006
|
|
NM_001034853.2(RPGR):c.1507-68T>C
|
rs62643066
|
|
NM_001034853.2(RPGR):c.1512_1513del (p.Ile505fs)
|
rs281865304
|
|
NM_001034853.2(RPGR):c.154G>T (p.Gly52Ter)
|
rs281865296
|
|
NM_001034853.2(RPGR):c.155-2A>G
|
rs62638632
|
|
NM_001034853.2(RPGR):c.1573-1G>A
|
rs62635010
|
|
NM_001034853.2(RPGR):c.1573-2A>G
|
rs62635009
|
|
NM_001034853.2(RPGR):c.1573-8A>G
|
rs62635011
|
|
NM_001034853.2(RPGR):c.1575_1578del (p.Lys525fs)
|
rs281865305
|
|
NM_001034853.2(RPGR):c.1576CAA[1] (p.Gln527del)
|
rs62653033
|
|
NM_001034853.2(RPGR):c.1747G>T (p.Glu583Ter)
|
rs62635013
|
|
NM_001034853.2(RPGR):c.179G>T (p.Gly60Val)
|
rs62638634
|
|
NM_001034853.2(RPGR):c.1835dup (p.Asn612fs)
|
rs62635014
|
|
NM_001034853.2(RPGR):c.237_238del (p.Val81fs)
|
rs62650215
|
|
NM_001034853.2(RPGR):c.248-2A>G
|
rs62638633
|
|
NM_001034853.2(RPGR):c.248-6T>A
|
rs62638635
|
|
NM_001034853.2(RPGR):c.28+1G>A
|
rs62638627
|
|
NM_001034853.2(RPGR):c.28+5G>A
|
rs62638626
|
|
NM_001034853.2(RPGR):c.294C>A (p.His98Gln)
|
rs62638636
|
|
NM_001034853.2(RPGR):c.295_296dup (p.Leu100fs)
|
rs62638638
|
|
NM_001034853.2(RPGR):c.296C>A (p.Thr99Asn)
|
rs62638637
|
|
NM_001034853.2(RPGR):c.310+1G>C
|
rs62638639
|
|
NM_001034853.2(RPGR):c.310+3A>G
|
rs62638640
|
|
NM_001034853.2(RPGR):c.356del (p.Leu119fs)
|
rs62638641
|
|
NM_001034853.2(RPGR):c.372del (p.Glu125fs)
|
rs62638642
|
|
NM_001034853.2(RPGR):c.379A>G (p.Arg127Gly)
|
rs62638643
|
|
NM_001034853.2(RPGR):c.389T>G (p.Phe130Cys)
|
rs62638644
|
|
NM_001034853.2(RPGR):c.415G>T (p.Glu139Ter)
|
rs62638645
|
|
NM_001034853.2(RPGR):c.469+1G>A
|
rs62638646
|
|
NM_001034853.2(RPGR):c.485_486del (p.Phe162fs)
|
rs281865297
|
|
NM_001034853.2(RPGR):c.486del (p.Phe162fs)
|
rs281865297
|
|
NM_001034853.2(RPGR):c.492G>A (p.Trp164Ter)
|
rs62638648
|
|
NM_001034853.2(RPGR):c.581G>A (p.Trp194Ter)
|
rs62650216
|
|
NM_001034853.2(RPGR):c.605C>A (p.Ser202Ter)
|
rs62650217
|
|
NM_001034853.2(RPGR):c.619+5G>A
|
rs62638649
|
|
NM_001034853.2(RPGR):c.644G>T (p.Gly215Val)
|
rs62650218
|
|
NM_001034853.2(RPGR):c.703C>T (p.Pro235Ser)
|
rs62638651
|
|
NM_001034853.2(RPGR):c.706C>T (p.Gln236Ter)
|
rs62638652
|
|
NM_001034853.2(RPGR):c.730A>T (p.Lys244Ter)
|
rs62638653
|
|
NM_001034853.2(RPGR):c.747del (p.Cys250fs)
|
rs62650219
|
|
NM_001034853.2(RPGR):c.748T>C (p.Cys250Arg)
|
rs62650220
|
|
NM_001034853.2(RPGR):c.750_751del (p.Cys250fs)
|
rs281865299
|
|
NM_001034853.2(RPGR):c.779-1G>A
|
rs62638655
|
|
NM_001034853.2(RPGR):c.823G>A (p.Gly275Ser)
|
rs62642057
|
|
NM_001034853.2(RPGR):c.833_836del (p.Thr278fs)
|
rs62640584
|
|
NM_001034853.2(RPGR):c.836_837del (p.Phe279fs)
|
rs62640586
|
|
NM_001034853.2(RPGR):c.837del (p.Leu280fs)
|
rs62640586
|
|
NM_001034853.2(RPGR):c.869del (p.Glu290fs)
|
rs62640588
|
|
NM_001034853.2(RPGR):c.886_900del (p.Thr296_Ile300del)
|
rs62653026
|
|
NM_001034853.2(RPGR):c.904T>C (p.Cys302Arg)
|
rs62640589
|
|
NM_001034853.2(RPGR):c.905G>A (p.Cys302Tyr)
|
rs62640590
|
|
NM_001034853.2(RPGR):c.931A>G (p.Thr311Ala)
|
rs62640591
|
|
NM_001034853.2(RPGR):c.934+1G>A
|
rs62640592
|
|
NM_001034853.2(RPGR):c.934+1G>C
|
rs62640592
|
|
NM_001034853.2(RPGR):c.958G>A (p.Gly320Arg)
|
rs62640593
|
|
NM_001034853.2(RPGR):c.980T>G (p.Leu327Ter)
|
rs62640594
|
|
NM_001034853.2(RPGR):c.994G>T (p.Glu332Ter)
|
rs62642058
|
|
NM_001378477.3(NYX):c.1025T>C (p.Leu342Pro)
|
rs62637036
|
|
NM_001378477.3(NYX):c.1094G>T (p.Gly365Val)
|
rs62637038
|
|
NM_001378477.3(NYX):c.325_339del (p.Glu109_Ala113del)
|
rs63749061
|
|
NM_001378477.3(NYX):c.412G>C (p.Ala138Pro)
|
rs62637023
|
|
NM_001378477.3(NYX):c.437C>T (p.Pro146Leu)
|
rs62637024
|
|
NM_001378477.3(NYX):c.509C>G (p.Pro170Arg)
|
rs62637025
|
|
NM_001378477.3(NYX):c.536T>C (p.Leu179Pro)
|
rs62637026
|
|
NM_001378477.3(NYX):c.623T>A (p.Leu208Gln)
|
rs62637028
|
|
NM_001378477.3(NYX):c.632A>T (p.Asn211Ile)
|
rs62637029
|
|
NM_001378477.3(NYX):c.680T>C (p.Leu227Pro)
|
rs62637030
|
|
NM_001378477.3(NYX):c.70_93del (p.Arg24_Ala31del)
|
rs281865194
|
|
NM_001378477.3(NYX):c.717_728del (p.Glu239_Ala242del)
|
rs63749062
|
|
NM_001378477.3(NYX):c.777C>G (p.Asn259Lys)
|
rs62637032
|
|
NM_001378477.3(NYX):c.77G>C (p.Cys26Ser)
|
rs62637020
|
|
NM_001378477.3(NYX):c.839T>C (p.Leu280Pro)
|
rs62637033
|
|
NM_001378477.3(NYX):c.878T>C (p.Phe293Ser)
|
rs62637034
|
|
NM_001378477.3(NYX):c.90C>A (p.Cys30Ter)
|
rs62637021
|
|
NM_001378477.3(NYX):c.920A>G (p.Asn307Ser)
|
rs62637035
|
|
NM_003322.6(TULP1):c.1259G>C (p.Arg420Pro)
|
rs121909073
|
|
NM_003322.6(TULP1):c.350-2_350del
|
rs281865167
|
|
NM_003322.6(TULP1):c.371_394del (p.Asp124_Glu131del)
|
rs281865169
|
|
NM_003322.6(TULP1):c.719-19T>A
|
rs281865170
|
|
NM_003322.6(TULP1):c.734C>T (p.Ala245Val)
|
rs62636707
|
|
NM_003322.6(TULP1):c.805A>C (p.Lys269Gln)
|
rs62636514
|
|
NM_003322.6(TULP1):c.823-4A>C
|
rs200264819
|
|
NM_003322.6(TULP1):c.901del (p.Gln301fs)
|
rs62636292
|
|
NM_003322.6(TULP1):c.99+1G>A
|
rs281865166
|
|
NM_004183.4(BEST1):c.1026G>A (p.Glu342=)
|
rs281865282
|
|
NM_004183.4(BEST1):c.1470_1471del (p.His490fs)
|
rs281865528
|
|
NM_004183.4(BEST1):c.1681A>G (p.Thr561Ala)
|
rs281865283
|
|
NM_004183.4(BEST1):c.16A>C (p.Thr6Pro)
|
rs28940275
|
|
NM_004183.4(BEST1):c.173A>T (p.Gln58Leu)
|
rs281865529
|
|
NM_004183.4(BEST1):c.17C>G (p.Thr6Arg)
|
rs281865204
|
|
NM_004183.4(BEST1):c.217A>C (p.Ile73Leu)
|
rs281865220
|
|
NM_004183.4(BEST1):c.240C>A (p.Phe80Leu)
|
rs281865221
|
|
NM_004183.4(BEST1):c.244C>G (p.Leu82Val)
|
rs281865530
|
|
NM_004183.4(BEST1):c.248-12C>T
|
rs62639351
|
|
NM_004183.4(BEST1):c.248-32C>T
|
rs62639352
|
|
NM_004183.4(BEST1):c.253T>C (p.Tyr85His)
|
rs28940274
|
|
NM_004183.4(BEST1):c.25G>A (p.Val9Met)
|
rs28940276
|
|
NM_004183.4(BEST1):c.26T>C (p.Val9Ala)
|
rs281865205
|
|
NM_004183.4(BEST1):c.272C>T (p.Thr91Ile)
|
rs281865223
|
|
NM_004183.4(BEST1):c.274C>T (p.Arg92Cys)
|
rs281865224
|
|
NM_004183.4(BEST1):c.275G>A (p.Arg92His)
|
rs281865225
|
|
NM_004183.4(BEST1):c.279G>C (p.Trp93Cys)
|
rs28940273
|
|
NM_004183.4(BEST1):c.288G>C (p.Gln96His)
|
rs281865226
|
|
NM_004183.4(BEST1):c.28G>A (p.Ala10Thr)
|
rs281865206
|
|
NM_004183.4(BEST1):c.297C>A (p.Asn99Lys)
|
rs281865227
|
|
NM_004183.4(BEST1):c.299T>G (p.Leu100Arg)
|
rs281865228
|
|
NM_004183.4(BEST1):c.29C>T (p.Ala10Val)
|
rs281865207
|
|
NM_004183.4(BEST1):c.301C>A (p.Pro101Thr)
|
rs281865229
|
|
NM_004183.4(BEST1):c.304T>C (p.Trp102Arg)
|
rs281865230
|
|
NM_004183.4(BEST1):c.310G>C (p.Asp104His)
|
rs281865231
|
|
NM_004183.4(BEST1):c.312C>A (p.Asp104Glu)
|
rs281865232
|
|
NM_004183.4(BEST1):c.32A>T (p.Asn11Ile)
|
rs281865208
|
|
NM_004183.4(BEST1):c.403G>A (p.Gly135Ser)
|
rs281865234
|
|
NM_004183.4(BEST1):c.419T>G (p.Leu140Arg)
|
rs281865235
|
|
NM_004183.4(BEST1):c.436_437delinsAA (p.Ala146Lys)
|
rs1800995
|
|
NM_004183.4(BEST1):c.445A>T (p.Lys149Ter)
|
rs281865274
|
|
NM_004183.4(BEST1):c.47C>T (p.Ser16Phe)
|
rs281865210
|
|
NM_004183.4(BEST1):c.50T>G (p.Phe17Cys)
|
rs281865211
|
|
NM_004183.4(BEST1):c.61C>G (p.Leu21Val)
|
rs281865212
|
|
NM_004183.4(BEST1):c.626G>A (p.Ser209Asn)
|
rs281865237
|
|
NM_004183.4(BEST1):c.636+1G>C
|
rs62637337
|
|
NM_004183.4(BEST1):c.652C>A (p.Arg218Ser)
|
rs281865238
|
|
NM_004183.4(BEST1):c.652C>T (p.Arg218Cys)
|
rs281865238
|
|
NM_004183.4(BEST1):c.654T>C (p.Arg218=)
|
rs281865280
|
|
NM_004183.4(BEST1):c.663T>G (p.Cys221Trp)
|
rs281865240
|
|
NM_004183.4(BEST1):c.665G>T (p.Gly222Val)
|
rs281865241
|
|
NM_004183.4(BEST1):c.670C>A (p.Leu224Met)
|
rs281865242
|
|
NM_004183.4(BEST1):c.671T>C (p.Leu224Pro)
|
rs281865243
|
|
NM_004183.4(BEST1):c.679T>A (p.Tyr227Asn)
|
rs28941469
|
|
NM_004183.4(BEST1):c.680A>G (p.Tyr227Cys)
|
rs267606677
|
|
NM_004183.4(BEST1):c.693T>G (p.Ser231Arg)
|
rs281865244
|
|
NM_004183.4(BEST1):c.703G>A (p.Val235Met)
|
rs281865245
|
|
NM_004183.4(BEST1):c.703G>C (p.Val235Leu)
|
rs281865245
|
|
NM_004183.4(BEST1):c.710C>G (p.Thr237Arg)
|
rs281865246
|
|
NM_004183.4(BEST1):c.720G>C (p.Val240=)
|
rs281865281
|
|
NM_004183.4(BEST1):c.722C>A (p.Thr241Asn)
|
rs281865247
|
|
NM_004183.4(BEST1):c.727G>A (p.Ala243Thr)
|
rs137853905
|
|
NM_004183.4(BEST1):c.728C>T (p.Ala243Val)
|
rs28940570
|
|
NM_004183.4(BEST1):c.72G>T (p.Trp24Cys)
|
rs281865213
|
|
NM_004183.4(BEST1):c.73C>T (p.Arg25Trp)
|
rs281865214
|
|
NM_004183.4(BEST1):c.81C>G (p.Ser27Arg)
|
rs281865216
|
|
NM_004183.4(BEST1):c.828C>G (p.Phe276Leu)
|
rs281865248
|
|
NM_004183.4(BEST1):c.842TCT[2] (p.Phe283del)
|
rs281865532
|
|
NM_004183.4(BEST1):c.85T>C (p.Tyr29His)
|
rs281865217
|
|
NM_004183.4(BEST1):c.877C>A (p.Gln293Lys)
|
rs281865250
|
|
NM_004183.4(BEST1):c.87C>T (p.Tyr29=)
|
rs121918285
|
|
NM_004183.4(BEST1):c.880C>G (p.Leu294Val)
|
rs281865251
|
|
NM_004183.4(BEST1):c.881TCA[1] (p.Ile295del)
|
rs121918283
|
|
NM_004183.4(BEST1):c.884T>C (p.Ile295Thr)
|
rs281865253
|
|
NM_004183.4(BEST1):c.886A>C (p.Asn296His)
|
rs281865254
|
|
NM_004183.4(BEST1):c.887A>G (p.Asn296Ser)
|
rs281865255
|
|
NM_004183.4(BEST1):c.889C>G (p.Pro297Ala)
|
rs1805143
|
|
NM_004183.4(BEST1):c.889C>T (p.Pro297Ser)
|
rs1805143
|
|
NM_004183.4(BEST1):c.893T>C (p.Phe298Ser)
|
rs281865257
|
|
NM_004183.4(BEST1):c.896G>A (p.Gly299Glu)
|
rs28941468
|
|
NM_004183.4(BEST1):c.898G>A (p.Glu300Lys)
|
rs281865258
|
|
NM_004183.4(BEST1):c.900G>C (p.Glu300Asp)
|
rs1805144
|
|
NM_004183.4(BEST1):c.901G>A (p.Asp301Asn)
|
rs281865259
|
|
NM_004183.4(BEST1):c.901GAT[3] (p.Asp304del)
|
rs281865260
|
|
NM_004183.4(BEST1):c.903T>G (p.Asp301Glu)
|
rs281865261
|
|
NM_004183.4(BEST1):c.904G>C (p.Asp302His)
|
rs281865262
|
|
NM_004183.4(BEST1):c.905A>G (p.Asp302Gly)
|
rs281865263
|
|
NM_004183.4(BEST1):c.905A>T (p.Asp302Val)
|
rs281865263
|
|
NM_004183.4(BEST1):c.909T>A (p.Asp303Glu)
|
rs281865264
|
|
NM_004183.4(BEST1):c.914T>C (p.Phe305Ser)
|
rs281865265
|
|
NM_004183.4(BEST1):c.917A>G (p.Glu306Gly)
|
rs281865266
|
|
NM_004183.4(BEST1):c.918G>C (p.Glu306Asp)
|
rs281865267
|
|
NM_004183.4(BEST1):c.919A>G (p.Thr307Ala)
|
rs281865268
|
|
NM_004183.4(BEST1):c.920C>T (p.Thr307Ile)
|
rs281865269
|
|
NM_004183.4(BEST1):c.923A>G (p.Asn308Ser)
|
rs281865270
|
|
NM_004183.4(BEST1):c.929T>C (p.Ile310Thr)
|
rs281865271
|
|
NM_004183.4(BEST1):c.949-21del
|
rs62640560
|
|
NM_004744.5(LRAT):c.525T>A (p.Ser175Arg)
|
rs104893848
|
|
NM_014336.5(AIPL1):c.1010_1011del (p.Glu337fs)
|
rs62637016
|
|
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del)
|
rs281865195
|
|
NM_014336.5(AIPL1):c.236T>C (p.Met79Thr)
|
rs62653017
|
|
NM_014336.5(AIPL1):c.264G>A (p.Trp88Ter)
|
rs62653018
|
|
NM_014336.5(AIPL1):c.466-22T>C
|
rs281865197
|
|
NM_014336.5(AIPL1):c.466-25C>T
|
rs281865196
|
|
NM_014336.5(AIPL1):c.487C>T (p.Gln163Ter)
|
rs62637009
|
|
NM_014336.5(AIPL1):c.589G>C (p.Ala197Pro)
|
rs62637010
|
|
NM_014336.5(AIPL1):c.617T>A (p.Ile206Asn)
|
rs62637011
|
|
NM_014336.5(AIPL1):c.715T>C (p.Cys239Arg)
|
rs62637012
|
|
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs)
|
rs61751266
|
|
NM_020366.4(RPGRIP1):c.1525C>T (p.Gln509Ter)
|
rs61751267
|
|
NM_020366.4(RPGRIP1):c.1707T>G (p.Asn569Lys)
|
rs61751273
|
|
NM_020366.4(RPGRIP1):c.195G>A (p.Trp65Ter)
|
rs62646878
|
|
NM_020366.4(RPGRIP1):c.2237G>A (p.Gly746Glu)
|
rs61751268
|
|
NM_020366.4(RPGRIP1):c.2480G>T (p.Arg827Leu)
|
rs28937883
|
|
NM_020366.4(RPGRIP1):c.2565_2566insTT (p.Leu856fs)
|
rs61751269
|
|
NM_020366.4(RPGRIP1):c.2627A>G (p.Asp876Gly)
|
rs61751274
|
|
NM_020366.4(RPGRIP1):c.2760dup (p.Val921fs)
|
rs1555302659
|
|
NM_020366.4(RPGRIP1):c.3609del (p.Gln1204fs)
|
rs61751271
|
|
NM_020366.4(RPGRIP1):c.3628_3629insG (p.Thr1210fs)
|
rs61751272
|
|
NM_020366.4(RPGRIP1):c.3835_3837del (p.Glu1279del)
|
rs281865293
|
|
NM_020366.4(RPGRIP1):c.511del (p.Tyr171fs)
|
rs61751265
|
|
NM_022567.2(NYX):c.559_560delinsAA (p.Ala187Lys)
|
rs62637027
|
|
NM_025114.4(CEP290):c.1550del (p.Asp516_Leu517insTer)
|
rs62640579
|
|
NM_025114.4(CEP290):c.181-1G>T
|
rs281865190
|
|
NM_025114.4(CEP290):c.2119_2123dup (p.Thr709fs)
|
rs62640580
|
|
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys)
|
rs62635288
|
|
NM_025114.4(CEP290):c.2218-1_2225del
|
rs281865193
|
|
NM_025114.4(CEP290):c.265dup (p.Thr89fs)
|
rs281865191
|
|
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs)
|
rs62640570
|
|
NM_025114.4(CEP290):c.3176dup (p.Thr1060fs)
|
rs62640571
|
|
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)
|
rs62640581
|
|
NM_025114.4(CEP290):c.4115_4116del (p.Ile1372fs)
|
rs62640582
|
|
NM_025114.4(CEP290):c.4656del (p.Glu1553fs)
|
rs62640572
|
|
NM_025114.4(CEP290):c.4732G>T (p.Glu1578Ter)
|
rs62640573
|
|
NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter)
|
rs62640574
|
|
NM_025114.4(CEP290):c.5424T>C (p.Ser1808=)
|
rs62640575
|
|
NM_025114.4(CEP290):c.5515_5518del (p.Glu1839fs)
|
rs281865187
|
|
NM_025114.4(CEP290):c.5649dup (p.Leu1884fs)
|
rs281865188
|
|
NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs)
|
rs62638180
|
|
NM_025114.4(CEP290):c.6331C>T (p.Gln2111Ter)
|
rs62640577
|
|
NM_025114.4(CEP290):c.679_680del (p.Glu227fs)
|
rs62640578
|
|
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs)
|
rs281865189
|
|
NM_201253.3(CRB1):c.112del (p.Ser38fs)
|
rs62645750
|
|
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr)
|
rs62645754
|
|
NM_201253.3(CRB1):c.1208C>G (p.Ser403Ter)
|
rs62645746
|
|
NM_201253.3(CRB1):c.1298A>G (p.Tyr433Cys)
|
rs62636288
|
|
NM_201253.3(CRB1):c.1439G>A (p.Cys480Tyr)
|
rs62636265
|
|
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr)
|
rs62636266
|
|
NM_201253.3(CRB1):c.2128G>C (p.Glu710Gln)
|
rs62645755
|
|
NM_201253.3(CRB1):c.2222T>C (p.Met741Thr)
|
rs62636267
|
|
NM_201253.3(CRB1):c.2245_2247del (p.Ser749del)
|
rs62635653
|
|
NM_201253.3(CRB1):c.2441T>A (p.Leu814Gln)
|
rs62636268
|
|
NM_201253.3(CRB1):c.2479G>T (p.Gly827Ter)
|
rs62636269
|
|
NM_201253.3(CRB1):c.2509G>C (p.Asp837His)
|
rs62636289
|
|
NM_201253.3(CRB1):c.2549_2552del (p.Gly850fs)
|
rs62636270
|
|
NM_201253.3(CRB1):c.257_258dup (p.Asn87Ter)
|
rs62636260
|
|
NM_201253.3(CRB1):c.2613dup (p.Ala872fs)
|
rs62636272
|
|
NM_201253.3(CRB1):c.2671T>G (p.Cys891Gly)
|
rs62635658
|
|
NM_201253.3(CRB1):c.2842T>A (p.Cys948Ser)
|
rs62645747
|
|
NM_201253.3(CRB1):c.2853dup (p.Ala952fs)
|
rs281865173
|
|
NM_201253.3(CRB1):c.2883ATT[1] (p.Leu962del)
|
rs62645745
|
|
NM_201253.3(CRB1):c.2983G>T (p.Glu995Ter)
|
rs62635655
|
|
NM_201253.3(CRB1):c.3074G>T (p.Ser1025Ile)
|
rs62636274
|
|
NM_201253.3(CRB1):c.3212T>C (p.Leu1071Pro)
|
rs62635657
|
|
NM_201253.3(CRB1):c.3299T>C (p.Ile1100Thr)
|
rs62635659
|
|
NM_201253.3(CRB1):c.3299T>G (p.Ile1100Arg)
|
rs62635659
|
|
NM_201253.3(CRB1):c.3320T>G (p.Leu1107Arg)
|
rs62636276
|
|
NM_201253.3(CRB1):c.3331G>T (p.Glu1111Ter)
|
rs62636277
|
|
NM_201253.3(CRB1):c.3347del (p.Phe1116fs)
|
rs62636278
|
|
NM_201253.3(CRB1):c.3541T>C (p.Cys1181Arg)
|
rs62636291
|
|
NM_201253.3(CRB1):c.3614G>A (p.Gly1205Glu)
|
rs62636279
|
|
NM_201253.3(CRB1):c.3879G>A (p.Trp1293Ter)
|
rs281865174
|
|
NM_201253.3(CRB1):c.3961T>A (p.Cys1321Ser)
|
rs62635649
|
|
NM_201253.3(CRB1):c.3961_3970del (p.Cys1321fs)
|
rs63749127
|
|
NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs)
|
rs281865175
|
|
NM_201253.3(CRB1):c.428_432del (p.Arg143fs)
|
rs62636261
|
|
NM_201253.3(CRB1):c.481dup (p.Ala161fs)
|
rs62635048
|
|
NM_201253.3(CRB1):c.482C>T (p.Ala161Val)
|
rs62635651
|
|
NM_201253.3(CRB1):c.613_619del (p.Ile205fs)
|
rs62645752
|
|
NM_201253.3(CRB1):c.616_621del (p.Gly206_Arg207del)
|
rs62645753
|
|
NM_201253.3(CRB1):c.750T>G (p.Cys250Trp)
|
rs62635652
|
|