ClinVar Miner

List of variants reported as not provided by Retina International

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Minimum conflict level:
ClinVar version:
Total variants: 1545
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HGVS dbSNP
NM_000180.3(GUCY2D):c.1026+171delG rs61750197
NM_000180.3(GUCY2D):c.1052A>G (p.Tyr351Cys) rs61749676
NM_000180.3(GUCY2D):c.1084G>T (p.Ala362Ser) rs61749677
NM_000180.3(GUCY2D):c.121C>T (p.Leu41Phe) rs61749664
NM_000180.3(GUCY2D):c.1236C>T (p.Asp412=) rs61749678
NM_000180.3(GUCY2D):c.1343C>A (p.Ser448Ter) rs61749679
NM_000180.3(GUCY2D):c.1379-28A>G rs61749680
NM_000180.3(GUCY2D):c.1424_1431dup (p.Leu478Glyfs) rs61749681
NM_000180.3(GUCY2D):c.1537C>T (p.Leu513Phe) rs61749682
NM_000180.3(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665
NM_000180.3(GUCY2D):c.1566+2T>C rs61749683
NM_000180.3(GUCY2D):c.1615A>G (p.Ile539Val) rs61749753
NM_000180.3(GUCY2D):c.1618C>T (p.Arg540Cys) rs61749754
NM_000180.3(GUCY2D):c.1694T>C (p.Phe565Ser) rs61749755
NM_000180.3(GUCY2D):c.1717A>G (p.Ile573Val) rs61749756
NM_000180.3(GUCY2D):c.1724C>T (p.Pro575Leu) rs28743021
NM_000180.3(GUCY2D):c.1806_1830del (p.Ala604Argfs) rs63749078
NM_000180.3(GUCY2D):c.1956+2T>A rs61749758
NM_000180.3(GUCY2D):c.1957-1G>A rs61749759
NM_000180.3(GUCY2D):c.1957-1G>T rs61749759
NM_000180.3(GUCY2D):c.1957G>A (p.Gly653Arg) rs61750160
NM_000180.3(GUCY2D):c.1978C>T (p.Arg660Ter) rs61750161
NM_000180.3(GUCY2D):c.1979G>A (p.Arg660Gln) rs61750162
NM_000180.3(GUCY2D):c.2078_2085del (p.Ala693Glyfs) rs61750163
NM_000180.3(GUCY2D):c.2080C>A (p.Gln694Lys) rs61750164
NM_000180.3(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902
NM_000180.3(GUCY2D):c.2109G>A (p.Ala703=) rs56130505
NM_000180.3(GUCY2D):c.2237A>G (p.Tyr746Cys) rs61750166
NM_000180.3(GUCY2D):c.2248G>T (p.Glu750Ter) rs61750167
NM_000180.3(GUCY2D):c.226_239del (p.Ala76Argfs) rs281865410
NM_000180.3(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168
NM_000180.3(GUCY2D):c.2317A>C (p.Met773Leu) rs61750169
NM_000180.3(GUCY2D):c.2346C>A (p.Leu782=) rs61750170
NM_000180.3(GUCY2D):c.2384G>T (p.Arg795Leu) rs61750171
NM_000180.3(GUCY2D):c.2511G>C (p.Glu837Asp) rs28933695
NM_000180.3(GUCY2D):c.2512C>A (p.Arg838Ser) rs61750172
NM_000180.3(GUCY2D):c.2512C>T (p.Arg838Cys) rs61750172
NM_000180.3(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000180.3(GUCY2D):c.2516C>T (p.Thr839Met) rs61750174
NM_000180.3(GUCY2D):c.2566A>G (p.Met856Val) rs61750175
NM_000180.3(GUCY2D):c.2572C>T (p.Pro858Ser) rs61750176
NM_000180.3(GUCY2D):c.2576+37G>T rs12103471
NM_000180.3(GUCY2D):c.2745C>T (p.Ile915=) rs61750177
NM_000180.3(GUCY2D):c.2749G>C (p.Gly917Arg) rs61750178
NM_000180.3(GUCY2D):c.2800G>C (p.Ala934Pro) rs61750179
NM_000180.3(GUCY2D):c.2837C>T (p.Ala946Val) rs61750180
NM_000180.3(GUCY2D):c.2849C>T (p.Ala950Val) rs61750181
NM_000180.3(GUCY2D):c.2861T>C (p.Leu954Pro) rs61750182
NM_000180.3(GUCY2D):c.2899delC (p.His967Ilefs) rs61750183
NM_000180.3(GUCY2D):c.289G>C (p.Glu97Gln) rs61749667
NM_000180.3(GUCY2D):c.2927G>T (p.Arg976Leu) rs61750184
NM_000180.3(GUCY2D):c.2943delG (p.Gly982Valfs) rs61750185
NM_000180.3(GUCY2D):c.2951G>A (p.Cys984Tyr) rs61750186
NM_000180.3(GUCY2D):c.2983C>T (p.Arg995Trp) rs61750187
NM_000180.3(GUCY2D):c.2T>A (p.Met1Lys) rs281865408
NM_000180.3(GUCY2D):c.3025A>T (p.Met1009Leu) rs61750188
NM_000180.3(GUCY2D):c.3043+4A>T rs61750189
NM_000180.3(GUCY2D):c.3055C>A (p.His1019Asn) rs61750190
NM_000180.3(GUCY2D):c.3078_3079delGA (p.Ile1027Serfs) rs281865411
NM_000180.3(GUCY2D):c.307G>A (p.Glu103Lys) rs61749668
NM_000180.3(GUCY2D):c.3106C>T (p.Gln1036Ter) rs61750192
NM_000180.3(GUCY2D):c.3108G>T (p.Gln1036His) rs61750193
NM_000180.3(GUCY2D):c.3118C>G (p.Arg1040Gly) rs61750194
NM_000180.3(GUCY2D):c.3118C>T (p.Arg1040Ter) rs61750194
NM_000180.3(GUCY2D):c.314G>A (p.Cys105Tyr) rs61749669
NM_000180.3(GUCY2D):c.3181G>A (p.Gly1061Ser) rs62641254
NM_000180.3(GUCY2D):c.3205delC (p.Pro1069Argfs) rs61750196
NM_000180.3(GUCY2D):c.3235_3236insACCA (p.Gly1080Glnfs) rs281865412
NM_000180.3(GUCY2D):c.3282G>T (p.Leu1094=) rs281865413
NM_000180.3(GUCY2D):c.341T>C (p.Val114Ala) rs61750198
NM_000180.3(GUCY2D):c.387C>A (p.Asn129Lys) rs63340060
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.3(GUCY2D):c.3G>A (p.Met1Ile) rs281865409
NM_000180.3(GUCY2D):c.3G>C (p.Met1Ile) rs281865409
NM_000180.3(GUCY2D):c.52_99dup (p.Leu33_Pro34insGlyProAlaTrpTrpAlaProSerLeuProArgLeuProArgAlaLeu) rs63749076
NM_000180.3(GUCY2D):c.577C>T (p.Leu193=) rs61750199
NM_000180.3(GUCY2D):c.61T>C (p.Trp21Arg) rs9905402
NM_000180.3(GUCY2D):c.620delC (p.Arg208Glyfs) rs61749671
NM_000180.3(GUCY2D):c.779T>C (p.Leu260Pro) rs61749672
NM_000180.3(GUCY2D):c.87dupC (p.Arg31Profs) rs61749663
NM_000180.3(GUCY2D):c.935C>T (p.Thr312Met) rs61749673
NM_000180.3(GUCY2D):c.937C>T (p.Arg313Cys) rs61749674
NM_000180.3(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+13C>G rs11095520
NM_000273.3(GPR143):c.360+5G>C rs281865179
NM_000273.3(GPR143):c.360G>A (p.Ala120=) rs281865178
NM_000273.3(GPR143):c.371A>G (p.Gln124Arg) rs62635032
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.697G>A (p.Glu233Lys) rs62635038
NM_000273.3(GPR143):c.705G>A (p.Glu235=) rs62635039
NM_000273.3(GPR143):c.730A>G (p.Ile244Val) rs62635040
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_000322.4(PRPH2):c.356_358delGCT (p.Cys119del) rs61755777
NM_000322.5(PRPH2):c.*851_*854del rs281865376
NM_000322.5(PRPH2):c.113del (p.Gly38fs) rs61755769
NM_000322.5(PRPH2):c.133C>T (p.Leu45Phe) rs61755770
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter) rs61755771
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.249C>T (p.Tyr83=) rs61755775
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.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.37C>T (p.Arg13Trp) 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.424C>T (p.Arg142Trp) rs61755783
NM_000322.5(PRPH2):c.441del (p.Gly148fs) rs61755784
NM_000322.5(PRPH2):c.458A>G (p.Lys153Arg) rs61755785
NM_000322.5(PRPH2):c.458_460AGA[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.502_504AAC[1] (p.Asn169del) rs61755790
NM_000322.5(PRPH2):c.508G>A (p.Gly170Ser) rs61755791
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.554T>C (p.Leu185Pro) rs121918563
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.638G>A (p.Cys213Tyr) rs61755803
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.647C>T (p.Pro216Leu) rs61755806
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.659G>A (p.Arg220Gln) rs61755810
NM_000322.5(PRPH2):c.676C>G (p.Gln226Glu) rs61755811
NM_000322.5(PRPH2):c.700dup (p.Tyr234fs) rs61755812
NM_000322.5(PRPH2):c.708C>T (p.Tyr236=) rs61755813
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.80C>T (p.Ser27Phe) rs61755766
NM_000322.5(PRPH2):c.824_825del (p.Leu274_Phe275insTer) rs62645937
NM_000322.5(PRPH2):c.828+3A>T rs281865373
NM_000322.5(PRPH2):c.855C>A (p.Tyr285Ter) rs62645938
NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu) rs62645939
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.938C>T (p.Pro313Leu) rs61748434
NM_000322.5(PRPH2):c.947G>A (p.Trp316Ter) rs121918566
NM_000322.5(PRPH2):c.94A>G (p.Ile32Val) rs61755767
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.101del (p.Asn34fs) rs281865295
NM_000328.3(RPGR):c.1033A>G (p.Asn345Asp) rs41305223
NM_000328.3(RPGR):c.106G>T (p.Val36Phe) rs62638628
NM_000328.3(RPGR):c.1092dup (p.Ala365fs) rs281865301
NM_000328.3(RPGR):c.1100del (p.Pro367fs) rs62635000
NM_000328.3(RPGR):c.1120G>T (p.Glu374Ter) rs62635001
NM_000328.3(RPGR):c.1164G>A (p.Ala388=) rs1801686
NM_000328.3(RPGR):c.1237_1238AG[5] (p.Glu416fs) rs281865302
NM_000328.3(RPGR):c.1245+16A>G rs5918522
NM_000328.3(RPGR):c.1245+3A>G rs62635002
NM_000328.3(RPGR):c.1261_1279del (p.Ser421fs) rs281865303
NM_000328.3(RPGR):c.1274G>A (p.Arg425Lys) rs1801687
NM_000328.3(RPGR):c.127G>A (p.Gly43Arg) rs62638629
NM_000328.3(RPGR):c.128G>A (p.Gly43Glu) rs62638630
NM_000328.3(RPGR):c.1291A>G (p.Ile431Val) rs62635003
NM_000328.3(RPGR):c.1307G>A (p.Gly436Asp) rs62635004
NM_000328.3(RPGR):c.1377_1378del (p.Leu460fs) rs62653029
NM_000328.3(RPGR):c.1402_1405del (p.Pro468fs) rs62653030
NM_000328.3(RPGR):c.141T>G (p.Ser47=) rs62638631
NM_000328.3(RPGR):c.1477del (p.Gly494fs) rs62635005
NM_000328.3(RPGR):c.1478T>A (p.Leu493His) rs62635006
NM_000328.3(RPGR):c.1507-68T>C rs62643066
NM_000328.3(RPGR):c.1507-97T>C rs62635007
NM_000328.3(RPGR):c.1508_1509CA[2] (p.Ile505fs) rs281865304
NM_000328.3(RPGR):c.154G>T (p.Gly52Ter) rs281865296
NM_000328.3(RPGR):c.155-2A>G rs62638632
NM_000328.3(RPGR):c.1572+11A>G rs62635008
NM_000328.3(RPGR):c.1573-1G>A rs62635010
NM_000328.3(RPGR):c.1573-2A>G rs62635009
NM_000328.3(RPGR):c.1573-8A>G rs62635011
NM_000328.3(RPGR):c.1575_1578del (p.Lys525fs) rs281865305
NM_000328.3(RPGR):c.1576_1578CAA[1] (p.Gln527del) rs62653033
NM_000328.3(RPGR):c.1598C>T (p.Thr533Met) rs41312104
NM_000328.3(RPGR):c.1697G>A (p.Gly566Glu) rs1801688
NM_000328.3(RPGR):c.1747G>T (p.Glu583Ter) rs62635013
NM_000328.3(RPGR):c.179G>T (p.Gly60Val) rs62638634
NM_000328.3(RPGR):c.1835dup (p.Asn612fs) rs62635014
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.237_238del (p.Val81fs) rs62650215
NM_000328.3(RPGR):c.2447_*13del (p.Ter816Xaa) rs281865314
NM_000328.3(RPGR):c.248-2A>G rs62638633
NM_000328.3(RPGR):c.248-6T>A rs62638635
NM_000328.3(RPGR):c.28+1G>A rs62638627
NM_000328.3(RPGR):c.28+5G>A rs62638626
NM_000328.3(RPGR):c.293_294AC[3] (p.Leu100fs) rs62638638
NM_000328.3(RPGR):c.294C>A (p.His98Gln) rs62638636
NM_000328.3(RPGR):c.296C>A (p.Thr99Asn) rs62638637
NM_000328.3(RPGR):c.310+1G>C rs62638639
NM_000328.3(RPGR):c.310+3A>G rs62638640
NM_000328.3(RPGR):c.356del (p.Leu119fs) rs62638641
NM_000328.3(RPGR):c.372del (p.Glu125fs) rs62638642
NM_000328.3(RPGR):c.379A>G (p.Arg127Gly) rs62638643
NM_000328.3(RPGR):c.389T>G (p.Phe130Cys) rs62638644
NM_000328.3(RPGR):c.415G>T (p.Glu139Ter) rs62638645
NM_000328.3(RPGR):c.469+1G>A rs62638646
NM_000328.3(RPGR):c.485_486del (p.Phe162fs) rs281865297
NM_000328.3(RPGR):c.486del (p.Phe162fs) rs281865297
NM_000328.3(RPGR):c.492G>A (p.Trp164Ter) rs62638648
NM_000328.3(RPGR):c.581G>A (p.Trp194Ter) rs62650216
NM_000328.3(RPGR):c.605C>A (p.Ser202Ter) rs62650217
NM_000328.3(RPGR):c.619+5G>A rs62638649
NM_000328.3(RPGR):c.620-41T>C rs45486397
NM_000328.3(RPGR):c.644G>T (p.Gly215Val) rs62650218
NM_000328.3(RPGR):c.703C>T (p.Pro235Ser) rs62638651
NM_000328.3(RPGR):c.706C>T (p.Gln236Ter) rs62638652
NM_000328.3(RPGR):c.730A>T (p.Lys244Ter) rs62638653
NM_000328.3(RPGR):c.732G>A (p.Lys244=) rs62638654
NM_000328.3(RPGR):c.747del (p.Cys250fs) rs62650219
NM_000328.3(RPGR):c.748T>C (p.Cys250Arg) rs62650220
NM_000328.3(RPGR):c.748_749TG[1] (p.Cys250fs) rs281865299
NM_000328.3(RPGR):c.778+5G>A rs62640583
NM_000328.3(RPGR):c.779-1G>A rs62638655
NM_000328.3(RPGR):c.823G>A (p.Gly275Ser) rs62642057
NM_000328.3(RPGR):c.833_836del (p.Thr278fs) rs62640584
NM_000328.3(RPGR):c.836_837del (p.Phe279fs) rs62640586
NM_000328.3(RPGR):c.837del (p.Leu280fs) rs62640586
NM_000328.3(RPGR):c.865A>G (p.Ile289Val) rs62640587
NM_000328.3(RPGR):c.869del (p.Glu290fs) rs62640588
NM_000328.3(RPGR):c.886_900del (p.Thr296_Ile300del) rs62653026
NM_000328.3(RPGR):c.904T>C (p.Cys302Arg) rs62640589
NM_000328.3(RPGR):c.905G>A (p.Cys302Tyr) rs62640590
NM_000328.3(RPGR):c.931A>G (p.Thr311Ala) rs62640591
NM_000328.3(RPGR):c.934+1G>A rs62640592
NM_000328.3(RPGR):c.934+1G>C rs62640592
NM_000328.3(RPGR):c.958G>A (p.Gly320Arg) rs62640593
NM_000328.3(RPGR):c.980T>G (p.Leu327Ter) rs62640594
NM_000328.3(RPGR):c.994G>T (p.Glu332Ter) rs62642058
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) rs62642583
NM_000329.2(RPE65):c.495_495+1insG rs281865288
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) rs61752909
NM_000329.3(RPE65):c.1046_1047insTGG (p.Trp350_Glu351insGly) rs61752910
NM_000329.3(RPE65):c.1053A>G (p.Glu351=) rs62642585
NM_000329.3(RPE65):c.1056G>A (p.Glu352=) rs12145904
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.11+5G>A rs61751276
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His) rs62653011
NM_000329.3(RPE65):c.1103A>G (p.Tyr368Cys) rs62653012
NM_000329.3(RPE65):c.1120del (p.Ile374fs) rs62653013
NM_000329.3(RPE65):c.1155G>A (p.Thr385=) rs62653014
NM_000329.3(RPE65):c.1178C>G (p.Ala393Gly) rs62635773
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser) rs61751281
NM_000329.3(RPE65):c.1203_1206CTGG[3] (p.Glu404fs) rs62636295
NM_000329.3(RPE65):c.1208T>C (p.Leu403Pro) rs62636296
NM_000329.3(RPE65):c.1220T>C (p.Val407Ala) rs62636297
NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro) rs62636298
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln) rs62636299
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys) rs62636300
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040
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.131G>A (p.Arg44Gln) rs61751282
NM_000329.3(RPE65):c.1338+20A>C rs12564647
NM_000329.3(RPE65):c.1350G>T (p.Leu450=) rs62637003
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly) rs62637004
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.1543C>T (p.Arg515Trp) rs121917745
NM_000329.3(RPE65):c.1559T>C (p.Ile520Thr) rs281865291
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.235T>C (p.Tyr79His) rs61752869
NM_000329.3(RPE65):c.254G>A (p.Arg85His) rs61752870
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871
NM_000329.3(RPE65):c.271_272insA (p.Arg91fs) rs61752872
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln) rs61752873
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.2T>C (p.Met1Thr) rs281865285
NM_000329.3(RPE65):c.304G>A (p.Glu102Lys) rs62642584
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter) 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.370C>T (p.Arg124Ter) rs61752877
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878
NM_000329.3(RPE65):c.399T>C (p.Leu133=) rs59257923
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.48T>C (p.Phe16=) rs62642581
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr) rs61752883
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.614A>G (p.Asn205Ser) rs61752887
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.644-42del rs61752893
NM_000329.3(RPE65):c.644-43del rs61752894
NM_000329.3(RPE65):c.644A>G (p.Asp215Gly) rs62646881
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro) rs61751277
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter) rs61752895
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp) rs61752896
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.881A>C (p.Lys294Thr) rs61752901
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.907A>T (p.Lys303Ter) rs61752904
NM_000329.3(RPE65):c.95-2A>T rs61751279
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn) rs61752905
NM_000329.3(RPE65):c.95G>T (p.Gly32Val) rs61751278
NM_000329.3(RPE65):c.962dup (p.Asn321fs) rs61752906
NM_000329.3(RPE65):c.978G>T (p.Val326=) rs61752907
NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr) rs61752908
NM_000330.3(RS1):c.120C>A (p.Cys40Ter) rs62645885
NM_000330.3(RS1):c.160_163dup (p.Thr55fs) rs281865342
NM_000330.3(RS1):c.163del (p.Thr55fs) rs62645886
NM_000330.3(RS1):c.175T>A (p.Cys59Ser) rs62645889
NM_000330.3(RS1):c.184+1G>C rs281865343
NM_000330.3(RS1):c.1A>G (p.Met1Val) rs281865332
NM_000330.3(RS1):c.2T>C (p.Met1Thr) rs281865333
NM_000330.3(RS1):c.33_36del (p.Leu11fs) rs281865335
NM_000330.3(RS1):c.35T>A (p.Leu12His) rs62645879
NM_000330.3(RS1):c.38T>C (p.Leu13Pro) rs104894935
NM_000330.3(RS1):c.52+1G>A rs281865336
NM_000330.3(RS1):c.52+1G>T rs281865336
NM_000330.3(RS1):c.52+2T>C rs281865334
NM_000330.3(RS1):c.52+2dup rs281865337
NM_000330.3(RS1):c.52+5G>C rs281865338
NM_000330.3(RS1):c.53_77del (p.Ala18fs) rs281865339
NM_000330.3(RS1):c.68C>A (p.Ser23Ter) rs62645882
NM_000330.3(RS1):c.76G>T (p.Glu26Ter) rs140983930
NM_000330.3(RS1):c.78+1G>A rs281865341
NM_000330.3(RS1):c.79-2A>G rs281865340
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.2(ABCA4):c.3210_3211insGT (p.Ser1071Valfs) rs61750064
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.3(ABCA4):c.1007C>G (p.Ser336Cys) rs61748547
NM_000350.3(ABCA4):c.1015T>G (p.Trp339Gly) rs61751420
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.1037A>C (p.Lys346Thr) rs61752389
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.1140T>A (p.Asn380Lys) rs61748549
NM_000350.3(ABCA4):c.1220C>T (p.Ala407Val) rs61751264
NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter) rs61748550
NM_000350.3(ABCA4):c.122G>A (p.Trp41Ter) rs61751410
NM_000350.3(ABCA4):c.1240-14C>T rs4147830
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.1268A>G (p.His423Arg) rs3112831
NM_000350.3(ABCA4):c.1269C>T (p.His423=) rs4147831
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.1335C>G (p.Ser445Arg) rs61748552
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.1411G>A (p.Glu471Lys) rs1800548
NM_000350.3(ABCA4):c.141= (p.Pro47=) rs4847281
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.1569T>G (p.Asp523Glu) rs62646868
NM_000350.3(ABCA4):c.1575T>G (p.Phe525Leu) rs62646869
NM_000350.3(ABCA4):c.160+1G>A rs61748523
NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys) rs61748556
NM_000350.3(ABCA4):c.161-45G>T rs61753048
NM_000350.3(ABCA4):c.1610G>A (p.Arg537His) rs61752395
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr) rs150774447
NM_000350.3(ABCA4):c.161G>T (p.Cys54Phe) rs150774447
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
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.1648G>A (p.Gly550Arg) rs61748558
NM_000350.3(ABCA4):c.1653G>A (p.Val551=) rs61753963
NM_000350.3(ABCA4):c.1659C>G (p.Phe553Leu) rs61752396
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln) rs61748559
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.1761-37G>A rs61754021
NM_000350.3(ABCA4):c.1761-50G>A rs61754022
NM_000350.3(ABCA4):c.1761-54G>A rs4147833
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.179C>T (p.Ala60Val) rs55732384
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409
NM_000350.3(ABCA4):c.1805G>A (p.Arg602Gln) rs61749410
NM_000350.3(ABCA4):c.1811T>G (p.Ile604Ser) rs61749411
NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg) rs61749412
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.1878G>A (p.Ala626=) rs61754023
NM_000350.3(ABCA4):c.1894del (p.Ile632fs) rs61749413
NM_000350.3(ABCA4):c.1903C>A (p.Gln635Lys) rs61749414
NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter) 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.1917C>T (p.Tyr639=) rs61749415
NM_000350.3(ABCA4):c.1922G>C (p.Cys641Ser) rs61749416
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) rs61749417
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024
NM_000350.3(ABCA4):c.1933G>A (p.Asp645Asn) rs61749418
NM_000350.3(ABCA4):c.1937+1G>A rs61752401
NM_000350.3(ABCA4):c.1937+2T>C rs61749419
NM_000350.3(ABCA4):c.1938-1G>A rs61751263
NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu) rs62654395
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) rs61749420
NM_000350.3(ABCA4):c.1989G>A (p.Trp663Ter) rs61749421
NM_000350.3(ABCA4):c.1A>G (p.Met1Val) rs201738997
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.203C>T (p.Pro68Leu) 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.2127G>A (p.Ser709=) rs61754025
NM_000350.3(ABCA4):c.2147C>T (p.Thr716Met) rs61749426
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg) rs61751412
NM_000350.3(ABCA4):c.2160+1G>C rs61749427
NM_000350.3(ABCA4):c.223T>G (p.Cys75Gly) rs61748526
NM_000350.3(ABCA4):c.2291G>A (p.Cys764Tyr) rs61749428
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.2300T>A (p.Val767Asp) rs61751395
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.2383-10C>G rs61754026
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.2453G>A (p.Gly818Glu) rs61750202
NM_000350.3(ABCA4):c.2461T>A (p.Trp821Arg) rs61749433
NM_000350.3(ABCA4):c.2472C>T (p.Ile824=) rs61749434
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.2546T>C (p.Val849Ala) rs61749435
NM_000350.3(ABCA4):c.2552G>A (p.Gly851Asp) rs61749436
NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr) rs61749437
NM_000350.3(ABCA4):c.2564G>A (p.Trp855Ter) rs61752406
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.2588-12C>G rs61751396
NM_000350.3(ABCA4):c.2616_2617del (p.Phe873fs) rs62642560
NM_000350.3(ABCA4):c.2617T>C (p.Phe873Leu) rs62642570
NM_000350.3(ABCA4):c.2653+60G>C rs61754028
NM_000350.3(ABCA4):c.2654-21A>T rs61754029
NM_000350.3(ABCA4):c.2654-48G>C rs12069723
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440
NM_000350.3(ABCA4):c.2692G>A (p.Glu898Lys) rs61749441
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala) rs61754030
NM_000350.3(ABCA4):c.2703A>G (p.Thr901=) rs61749442
NM_000350.3(ABCA4):c.2703A>T (p.Thr901=) rs61749442
NM_000350.3(ABCA4):c.2744-38del rs281865389
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) rs58331765
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.2827C>T (p.Arg943Trp) rs61749446
NM_000350.3(ABCA4):c.2827del (p.Arg943fs) rs281865513
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581
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.2870A>G (p.Gln957Arg) rs61749448
NM_000350.3(ABCA4):c.2876C>T (p.Thr959Ile) rs61752409
NM_000350.3(ABCA4):c.2877C>T (p.Thr959=) rs61754033
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.2920T>C (p.Ser974Pro) rs281865400
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.2964C>T (p.Leu988=) rs61754034
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala) rs61749454
NM_000350.3(ABCA4):c.296dup (p.Asn99fs) rs62645948
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455
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.298T>C (p.Ser100Pro) rs61748530
NM_000350.3(ABCA4):c.2992C>T (p.Leu998=) rs62642566
NM_000350.3(ABCA4):c.302+1G>A rs61751413
NM_000350.3(ABCA4):c.302+20C>T rs61753050
NM_000350.3(ABCA4):c.302+26A>G rs2297634
NM_000350.3(ABCA4):c.303-71del rs4147877
NM_000350.3(ABCA4):c.3041T>G (p.Leu1014Arg) rs61749456
NM_000350.3(ABCA4):c.3050+5G>A rs61751262
NM_000350.3(ABCA4):c.3051-14T>A rs17110922
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.3064G>A (p.Glu1022Lys) rs61749459
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.3106G>A (p.Glu1036Lys) rs61750061
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.3(ABCA4):c.3149G>A (p.Gly1050Asp) rs61750062
NM_000350.3(ABCA4):c.3163C>T (p.Arg1055Trp) rs61752412
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.3191-20C>T rs61754036
NM_000350.3(ABCA4):c.3191-2A>G rs61752415
NM_000350.3(ABCA4):c.3205_3206dup (p.Leu1070fs) rs61750063
NM_000350.3(ABCA4):c.3212C>T (p.Ser1071Leu) rs61750065
NM_000350.3(ABCA4):c.3216T>C (p.Val1072=) rs61750066
NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys) rs61751398
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.3291A>G (p.Arg1097=) rs61750118
NM_000350.3(ABCA4):c.3295T>C (p.Ser1099Pro) rs61750119
NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro) rs62645946
NM_000350.3(ABCA4):c.3303G>A (p.Trp1101Ter) rs61752419
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120
NM_000350.3(ABCA4):c.3323G>A (p.Arg1108His) rs61750121
NM_000350.3(ABCA4):c.3323G>T (p.Arg1108Leu) rs61750121
NM_000350.3(ABCA4):c.3329-34A>G rs11810336
NM_000350.3(ABCA4):c.3335C>A (p.Thr1112Asn) rs61750122
NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys) rs61751399
NM_000350.3(ABCA4):c.3366G>C (p.Glu1122Asp) rs61750123
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu) rs1801269
NM_000350.3(ABCA4):c.3393del (p.Ile1132fs) rs61750124
NM_000350.3(ABCA4):c.3439del (p.Phe1146_Leu1147insTer) rs61752420
NM_000350.3(ABCA4):c.3523-12C>T rs61754037
NM_000350.3(ABCA4):c.3523-28T>C rs55896821
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.3602T>G (p.Leu1201Arg) rs61750126
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.3610G>A (p.Asp1204Asn) rs61750127
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.3758C>T (p.Thr1253Met) rs61752424
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.1279_1280DS[1]) rs62642572
NM_000350.3(ABCA4):c.3862+1G>A rs61751400
NM_000350.3(ABCA4):c.3874C>T (p.Gln1292Ter) rs61752426
NM_000350.3(ABCA4):c.3898C>T (p.Arg1300Ter) rs61752427
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129
NM_000350.3(ABCA4):c.38_46del (p.Lys13_Trp15del) rs62645956
NM_000350.3(ABCA4):c.3940C>A (p.Pro1314Thr) rs61754041
NM_000350.3(ABCA4):c.3994C>T (p.Gln1332Ter) rs61752428
NM_000350.3(ABCA4):c.4034_4035AC[3] (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.4139C>T (p.Pro1380Leu) rs61750130
NM_000350.3(ABCA4):c.4163T>C (p.Leu1388Pro) rs61750131
NM_000350.3(ABCA4):c.4169T>C (p.Leu1390Pro) rs61752430
NM_000350.3(ABCA4):c.4195G>A (p.Glu1399Lys) rs62642573
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.4222T>C (p.Trp1408Arg) rs61750135
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.4234C>T (p.Gln1412Ter) rs61750137
NM_000350.3(ABCA4):c.4253+1G>T rs61750139
NM_000350.3(ABCA4):c.4253+43G>A rs61754045
NM_000350.3(ABCA4):c.4253+4C>T rs61754044
NM_000350.3(ABCA4):c.4253+5G>T rs61750138
NM_000350.3(ABCA4):c.4254-2A>G rs61752431
NM_000350.3(ABCA4):c.4254-38G>A rs17110898
NM_000350.3(ABCA4):c.4254-47T>C rs56142328
NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met) rs1800549
NM_000350.3(ABCA4):c.4286T>C (p.Val1429Ala) rs61752432
NM_000350.3(ABCA4):c.428C>T (p.Pro143Leu) rs62646860
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile) rs56357060
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.4328G>A (p.Arg1443His) rs61750142
NM_000350.3(ABCA4):c.4346G>A (p.Trp1449Ter) rs61750143
NM_000350.3(ABCA4):c.4352+13G>A rs61754048
NM_000350.3(ABCA4):c.4353-1G>T rs61750144
NM_000350.3(ABCA4):c.4436G>A (p.Trp1479Ter) rs61752434
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) rs61750145
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) rs61750146
NM_000350.3(ABCA4):c.4463G>A (p.Cys1488Tyr) rs61750147
NM_000350.3(ABCA4):c.4463G>T (p.Cys1488Phe) rs61750147
NM_000350.3(ABCA4):c.4468T>A (p.Cys1490Ser) rs61750148
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402
NM_000350.3(ABCA4):c.4506C>A (p.Cys1502Ter) rs61750149
NM_000350.3(ABCA4):c.4506C>T (p.Cys1502=) 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.4538A>G (p.Gln1513Arg) rs281865402
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.4539+40C>T rs61754050
NM_000350.3(ABCA4):c.4540-2A>G rs61752435
NM_000350.3(ABCA4):c.4549C>A (p.Arg1517Ser) rs1800550
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter) rs62646861
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862
NM_000350.3(ABCA4):c.4574T>C (p.Leu1525Pro) rs61750151
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) rs62642574
NM_000350.3(ABCA4):c.45G>A (p.Trp15Ter) rs62645957
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met) rs62642575
NM_000350.3(ABCA4):c.4667+2T>C rs61752436
NM_000350.3(ABCA4):c.4668-15C>T rs61754054
NM_000350.3(ABCA4):c.4668-38C>T rs61754053
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) rs62646863
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111
NM_000350.3(ABCA4):c.4710del (p.Ile1571fs) rs281865381
NM_000350.3(ABCA4):c.4714A>T (p.Thr1572Ser) rs62641255
NM_000350.3(ABCA4):c.4732G>A (p.Gly1578Arg) rs1800551
NM_000350.3(ABCA4):c.4746C>T (p.Asp1582=) rs61754055
NM_000350.3(ABCA4):c.4748T>C (p.Leu1583Pro) rs61750153
NM_000350.3(ABCA4):c.4773+1G>T rs61751376
NM_000350.3(ABCA4):c.4773+2T>C rs61752437
NM_000350.3(ABCA4):c.4773+48C>T rs472908
NM_000350.3(ABCA4):c.4774-2A>C rs61750154
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp) rs61750155
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.4909G>A (p.Ala1637Thr) rs61754056
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg) rs61753017
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.4999C>A (p.Gln1667Lys) rs61753018
NM_000350.3(ABCA4):c.5018+2T>A rs61750562
NM_000350.3(ABCA4):c.5018+2T>C rs61750562
NM_000350.3(ABCA4):c.5019-32G>A rs113014755
NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del) rs62646872
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met) rs61753019
NM_000350.3(ABCA4):c.5065T>C (p.Ser1689Pro) rs61753020
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile) rs61750563
NM_000350.3(ABCA4):c.5087G>A (p.Ser1696Asn) rs61750564
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.514G>A (p.Gly172Ser) rs61748532
NM_000350.3(ABCA4):c.5161_5162del (p.Thr1721fs) rs61750566
NM_000350.3(ABCA4):c.5186T>C (p.Leu1729Pro) rs61750567
NM_000350.3(ABCA4):c.5196+1G>A rs61751377
NM_000350.3(ABCA4):c.5196+20G>A rs55715124
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.5206T>C (p.Ser1736Pro) rs61750568
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.5242G>A (p.Gly1748Arg) rs61753025
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.52C>T (p.Arg18Trp) rs121909205
NM_000350.3(ABCA4):c.5312+45G>T rs61754059
NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter) rs61750571
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.5337C>G (p.Tyr1779Ter) rs61750573
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp) rs61751406
NM_000350.3(ABCA4):c.5395A>G (p.Asn1799Asp) rs61750574
NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp) rs61753029
NM_000350.3(ABCA4):c.5459G>C (p.Arg1820Pro) rs62646875
NM_000350.3(ABCA4):c.5460+1G>A rs61753030
NM_000350.3(ABCA4):c.5461-10T>C rs1800728
NM_000350.3(ABCA4):c.5461-36del rs61754661
NM_000350.3(ABCA4):c.5461-50_5461-49insA rs281865393
NM_000350.3(ABCA4):c.5461-50dup rs281865391
NM_000350.3(ABCA4):c.5461-52del rs281865392
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.5537T>C (p.Ile1846Thr) rs61750575
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.5585-70C>T rs537831
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466
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.5657G>A (p.Gly1886Glu) rs62642579
NM_000350.3(ABCA4):c.5668_5670del (p.Phe1890del) rs61750635
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574
NM_000350.3(ABCA4):c.5687T>A (p.Val1896Asp) rs61750636
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552
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.5714+5G>A rs61751407
NM_000350.3(ABCA4):c.5715-25A>C rs4147856
NM_000350.3(ABCA4):c.574G>A (p.Ala192Thr) rs61748535
NM_000350.3(ABCA4):c.5761G>A (p.Val1921Met) rs61753032
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=) rs4147857
NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro) rs61753033
NM_000350.3(ABCA4):c.5836-11G>A rs1800739
NM_000350.3(ABCA4):c.5836-18dup 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.5843C>T (p.Pro1948Leu) rs56142141
NM_000350.3(ABCA4):c.5868C>T (p.Asp1956=) rs62642567
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.5908C>T (p.Leu1970Phe) rs28938473
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.5929G>A (p.Gly1977Ser) rs61750639
NM_000350.3(ABCA4):c.5936C>T (p.Thr1979Ile) rs61753037
NM_000350.3(ABCA4):c.5951_5952inv (p.Met1984Thr) rs61748516
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.6079C>T (p.Leu2027Phe) rs61751408
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641
NM_000350.3(ABCA4):c.6104T>C (p.Leu2035Pro) rs61750642
NM_000350.3(ABCA4):c.6112C>T (p.Arg2038Trp) rs61750643
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter) rs61753038
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
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.6236_6237TC[1] (p.Ser2080fs) rs281865382
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=) rs1801359
NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=) rs61748519
NM_000350.3(ABCA4):c.6276G>A (p.Val2092=) rs61753042
NM_000350.3(ABCA4):c.6282+7G>A rs17110761
NM_000350.3(ABCA4):c.6285T>C (p.Asp2095=) rs1801555
NM_000350.3(ABCA4):c.6286G>A (p.Glu2096Lys) rs61750646
NM_000350.3(ABCA4):c.6300del (p.Met2101fs) rs61750647
NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys) rs61750648
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
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.6342G>A (p.Val2114=) rs61748520
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200
NM_000350.3(ABCA4):c.6352del (p.Arg2118fs) rs61750650
NM_000350.3(ABCA4):c.635G>A (p.Arg212His) rs6657239
NM_000350.3(ABCA4):c.6383A>G (p.His2128Arg) rs61750651
NM_000350.3(ABCA4):c.6386+2C>G rs61753043
NM_000350.3(ABCA4):c.6391G>A (p.Glu2131Lys) rs61750652
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.6445C>T (p.Arg2149Ter) rs61750654
NM_000350.3(ABCA4):c.6446G>T (p.Arg2149Leu) rs61750655
NM_000350.3(ABCA4):c.6448T>C (p.Cys2150Arg) rs61750656
NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr) rs61751384
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.6529G>A (p.Asp2177Asn) rs1800555
NM_000350.3(ABCA4):c.6545_6580del (p.Leu2182_Phe2193del) rs63749058
NM_000350.3(ABCA4):c.6563T>C (p.Phe2188Ser) rs61750658
NM_000350.3(ABCA4):c.6568del (p.Gln2190fs) rs61751381
NM_000350.3(ABCA4):c.656G>C (p.Arg219Thr) rs61748537
NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys) rs61748538
NM_000350.3(ABCA4):c.6599_6600AG[1] (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.6686T>C (p.Leu2229Pro) rs61750659
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.6721C>G (p.Leu2241Val) rs61748521
NM_000350.3(ABCA4):c.6729+1G>A rs61751261
NM_000350.3(ABCA4):c.6729+21C>T rs1800699
NM_000350.3(ABCA4):c.6730-27C>G rs61748522
NM_000350.3(ABCA4):c.6730-3T>C rs1800717
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=) rs77293072
NM_000350.3(ABCA4):c.6750del (p.Lys2250fs) rs281865406
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652
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.70C>T (p.Arg24Cys) rs62645942
NM_000350.3(ABCA4):c.71G>A (p.Arg24His) rs62645958
NM_000350.3(ABCA4):c.728_729CT[1] (p.Leu244fs) rs62645949
NM_000350.3(ABCA4):c.731T>C (p.Leu244Pro) rs62646864
NM_000350.3(ABCA4):c.740A>G (p.Asn247Ser) rs62645950
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.768G>T (p.Val256=) rs62645944
NM_000350.3(ABCA4):c.769-1G>T rs61748542
NM_000350.3(ABCA4):c.769-32T>C rs526016
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.873G>A (p.Pro291=) rs61753054
NM_000350.3(ABCA4):c.899C>A (p.Thr300Asn) rs61748544
NM_000350.3(ABCA4):c.926C>G (p.Pro309Arg) rs61748545
NM_000350.3(ABCA4):c.928G>C (p.Glu310Gln) rs61753055
NM_000350.3(ABCA4):c.933C>T (p.Thr311=) rs61753056
NM_000350.3(ABCA4):c.981C>T (p.Pro327=) rs61753057
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_000350.3(ABCA4):c.997C>T (p.Arg333Trp) rs61748546
NM_000372.4(TYR):c.-199C>A rs1799989
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_000372.4(TYR):c.286dupA (p.Met96fs) rs61753190
NM_000372.4(TYR):c.732_733delTG (p.Cys244Terfs) rs61754368
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.1037-1G>A rs61754382
NM_000372.5(TYR):c.1037-7T>A rs61754381
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro) rs62645908
NM_000372.5(TYR):c.1075C>T (p.Gln359Ter) rs62645909
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.1111A>T (p.Asn371Tyr) rs61754386
NM_000372.5(TYR):c.1112A>C (p.Asn371Thr) rs61754387
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388
NM_000372.5(TYR):c.1126C>T (p.Gln376Ter) rs61754389
NM_000372.5(TYR):c.1132C>T (p.Gln378Ter) rs61754390
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.1147G>A (p.Asp383Asn) rs121908011
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.1199G>T (p.Trp400Leu) rs62645916
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter) rs62645917
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser) rs104894316
NM_000372.5(TYR):c.1211A>C (p.His404Pro) rs62645920
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg) rs61754392
NM_000372.5(TYR):c.125A>G (p.Asp42Gly) rs28940878
NM_000372.5(TYR):c.1265G>A (p.Arg422Gln) rs61754393
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.1315T>G (p.Phe439Val) rs281865327
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser) rs104894317
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+4A>G rs61754398
NM_000372.5(TYR):c.1366+5A>G rs61754397
NM_000372.5(TYR):c.140G>A (p.Gly47Asp) rs61753180
NM_000372.5(TYR):c.1467dup (p.Ala490fs) rs61754399
NM_000372.5(TYR):c.149C>G (p.Ser50Ter) rs61753181
NM_000372.5(TYR):c.1501dup (p.Arg501fs) rs281865328
NM_000372.5(TYR):c.155G>T (p.Arg52Ile) rs61753182
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr) rs28940879
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881
NM_000372.5(TYR):c.223del (p.Asp75fs) rs281865523
NM_000372.5(TYR):c.229C>T (p.Arg77Trp) rs61753184
NM_000372.5(TYR):c.230G>A (p.Arg77Gln) rs61753185
NM_000372.5(TYR):c.230_232dup (p.Glu78_Ser79insGly) rs61753187
NM_000372.5(TYR):c.232G>T (p.Glu78Ter) rs61753186
NM_000372.5(TYR):c.238T>C (p.Trp80Arg) rs61753188
NM_000372.5(TYR):c.240G>A (p.Trp80Ter) rs61753189
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876
NM_000372.5(TYR):c.25del (p.Leu9fs) rs281865524
NM_000372.5(TYR):c.265T>C (p.Cys89Arg) rs28940877
NM_000372.5(TYR):c.289G>A (p.Gly97Arg) rs61753252
NM_000372.5(TYR):c.2T>C (p.Met1Thr) rs281865324
NM_000372.5(TYR):c.325G>A (p.Gly109Arg) rs61753253
NM_000372.5(TYR):c.336_337CA[1] (p.Thr113fs) rs61753254
NM_000372.5(TYR):c.340_341GA[2] (p.Arg115fs) rs61753255
NM_000372.5(TYR):c.346C>T (p.Arg116Ter) rs61753256
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.533G>A (p.Trp178Ter) rs61754360
NM_000372.5(TYR):c.53del (p.Gly18fs) rs61753176
NM_000372.5(TYR):c.572del (p.Gly191fs) rs61754361
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602
NM_000372.5(TYR):c.57T>A (p.His19Gln) rs61753177
NM_000372.5(TYR):c.613C>A (p.Pro205Thr) rs61754362
NM_000372.5(TYR):c.616G>A (p.Ala206Thr) rs28940880
NM_000372.5(TYR):c.61C>T (p.Pro21Ser) rs61753178
NM_000372.5(TYR):c.646T>A (p.Leu216Met) rs61754363
NM_000372.5(TYR):c.649C>G (p.Arg217Gly) rs63159160
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160
NM_000372.5(TYR):c.649del (p.Arg217fs) rs61754364
NM_000372.5(TYR):c.650G>A (p.Arg217Gln) rs61754365
NM_000372.5(TYR):c.680_682del (p.Gly227del) rs61754366
NM_000372.5(TYR):c.707G>A (p.Trp236Ter) rs61754367
NM_000372.5(TYR):c.707G>C (p.Trp236Ser) rs61754367
NM_000372.5(TYR):c.757G>A (p.Gly253Arg) rs61754369
NM_000372.5(TYR):c.766C>T (p.His256Tyr) rs61754370
NM_000372.5(TYR):c.816G>C (p.Trp272Cys) rs62645902
NM_000372.5(TYR):c.820-3C>G rs61754371
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904
NM_000372.5(TYR):c.841del (p.Glu281fs) rs281865526
NM_000372.5(TYR):c.875C>T (p.Thr292Met) rs61754372
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.896G>A (p.Arg299His) rs61754375
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+12C>T rs62128766
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.121C>T (p.Arg41Trp) rs104894672
NM_000554.6(CRX):c.122G>A (p.Arg41Gln) rs61748436
NM_000554.6(CRX):c.166G>A (p.Ala56Thr) rs61748437
NM_000554.6(CRX):c.196G>A (p.Val66Ile) rs61748438
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.253-15G>A rs145805694
NM_000554.6(CRX):c.253-18T>A rs281865201
NM_000554.6(CRX):c.268C>T (p.Arg90Trp) rs104894673
NM_000554.6(CRX):c.335C>T (p.Ala112Val) rs61748439
NM_000554.6(CRX):c.351dup (p.Lys118fs) rs61748440
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) rs61748442
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.472G>A (p.Ala158Thr) rs61748445
NM_000554.6(CRX):c.501_502AG[1] (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.549G>A (p.Gly183=) rs61748451
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.597C>T (p.Ser199=) rs61748455
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.724G>A (p.Val242Met) rs61748459
NM_000554.6(CRX):c.753del (p.Ser252fs) rs61749660
NM_000554.6(CRX):c.789del (p.Val264fs) rs281865519
NM_000554.6(CRX):c.818C>T (p.Thr273Met) rs281865203
NM_000843.4(GRM6):c.1131C>T (p.Asp377=) rs2071246
NM_000843.4(GRM6):c.1227C>T (p.Tyr409=) rs2645339
NM_000843.4(GRM6):c.1353T>C (p.Asn451=) rs2067011
NM_000843.4(GRM6):c.137C>T (p.Pro46Leu) rs62638197
NM_000843.4(GRM6):c.1392A>G (p.Gly464=) rs11746675
NM_000843.4(GRM6):c.1500+23A>G rs2256966
NM_000843.4(GRM6):c.1565G>A (p.Cys522Tyr) rs62638208
NM_000843.4(GRM6):c.1566C>T (p.Cys522=) rs62638209
NM_000843.4(GRM6):c.172G>C (p.Gly58Arg) rs62638198
NM_000843.4(GRM6):c.1732C>T (p.Arg578Cys) rs62638210
NM_000843.4(GRM6):c.1748C>T (p.Ser583Phe) rs62638211
NM_000843.4(GRM6):c.1766C>T (p.Pro589Leu) rs62638212
NM_000843.4(GRM6):c.176A>C (p.Gln59Pro) rs2645329
NM_000843.4(GRM6):c.1848C>T (p.Val616=) rs62638213
NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter) rs62638214
NM_000843.4(GRM6):c.1875C>T (p.Tyr625=) rs62638215
NM_000843.4(GRM6):c.1887C>T (p.Thr629=) rs62638216
NM_000843.4(GRM6):c.1944G>T (p.Ala648=) rs62638619
NM_000843.4(GRM6):c.1953C>T (p.Ala651=) rs62638620
NM_000843.4(GRM6):c.1956C>T (p.Ala652=) rs62638621
NM_000843.4(GRM6):c.1958G>A (p.Arg653His) rs62638622
NM_000843.4(GRM6):c.19G>A (p.Ala7Thr) rs62642053
NM_000843.4(GRM6):c.2092C>G (p.Leu698Val) rs62638623
NM_000843.4(GRM6):c.2122C>T (p.Gln708Ter) rs62638624
NM_000843.4(GRM6):c.2134A>G (p.Met712Val) rs17078877
NM_000843.4(GRM6):c.2196G>A (p.Thr732=) rs2071247
NM_000843.4(GRM6):c.2341G>A (p.Glu781Lys) rs62638625
NM_000843.4(GRM6):c.2397C>T (p.Phe799=) rs17078875
NM_000843.4(GRM6):c.2420C>T (p.Ala807Val) rs17078874
NM_000843.4(GRM6):c.2436+46A>C rs17078872
NM_000843.4(GRM6):c.2436+55G>A rs2071248
NM_000843.4(GRM6):c.2437-6G>A rs114970739
NM_000843.4(GRM6):c.261C>T (p.Pro87=) rs62638199
NM_000843.4(GRM6):c.336C>T (p.Phe112=) rs62638200
NM_000843.4(GRM6):c.352C>A (p.Arg118Ser) rs62638201
NM_000843.4(GRM6):c.448G>A (p.Gly150Ser) rs62638202
NM_000843.4(GRM6):c.504+66A>C rs62638203
NM_000843.4(GRM6):c.57_75dup (p.Leu26fs) rs281865185
NM_000843.4(GRM6):c.664G>A (p.Glu222Lys) rs62638204
NM_000843.4(GRM6):c.686G>A (p.Gly229Glu) rs62638205
NM_000843.4(GRM6):c.721+83G>T rs62638206
NM_000843.4(GRM6):c.722-1dup rs281865186
NM_000843.4(GRM6):c.727G>T (p.Val243Phe) rs17078894
NM_000843.4(GRM6):c.733A>G (p.Ile245Val) rs62638207
NM_000843.4(GRM6):c.83G>A (p.Arg28His) rs62638196
NM_001009894.3(C12orf29):c.*867dup rs281865189
NM_003159.2(CDKL5):c.2714-1384C>T rs61752075
NM_003159.2(CDKL5):c.2714-1385A>G rs1801161
NM_003159.2(CDKL5):c.2714-1385A>T rs1801161
NM_003159.2(CDKL5):c.2714-1391C>A rs61752144
NM_003159.2(CDKL5):c.2714-1391C>G rs61752144
NM_003159.2(CDKL5):c.2714-1392G>A rs61752145
NM_003159.2(CDKL5):c.2714-1405_2714-1404insA rs61752146
NM_003159.2(CDKL5):c.2714-1421C>G rs61752147
NM_003159.2(CDKL5):c.2714-1429_2714-1426del rs61752148
NM_003159.2(CDKL5):c.2714-1435A>G rs61752149
NM_003159.2(CDKL5):c.2714-1447_2714-1446del rs281865347
NM_003159.2(CDKL5):c.2714-1452T>A rs61752151
NM_003159.2(CDKL5):c.2714-1459C>A rs61752152
NM_003159.2(CDKL5):c.2714-1462A>G rs61752153
NM_003159.2(CDKL5):c.2714-1467T>C rs61752154
NM_003159.2(CDKL5):c.2714-1471del rs61752155
NM_003159.2(CDKL5):c.2714-1473C>T rs61752156
NM_003159.2(CDKL5):c.2714-1474C>T rs61752157
NM_003159.2(CDKL5):c.2714-1476G>A rs61752158
NM_003159.2(CDKL5):c.2714-1476G>C rs61752158
NM_003159.2(CDKL5):c.2714-1477C>T rs61752159
NM_003159.2(CDKL5):c.2714-1480_2714-1479del rs61753160
NM_003159.2(CDKL5):c.2714-1481A>C rs1800001
NM_003159.2(CDKL5):c.2714-1481A>G rs1800001
NM_003159.2(CDKL5):c.2714-1483T>A rs61753161
NM_003159.2(CDKL5):c.2714-1491C>T rs61753162
NM_003159.2(CDKL5):c.2714-1493C>G rs61753163
NM_003159.2(CDKL5):c.2714-1515G>A rs61753164
NM_003159.2(CDKL5):c.2714-1519T>C rs61753165
NM_003159.2(CDKL5):c.2714-1527C>T rs1800002
NM_003159.2(CDKL5):c.2714-1544C>A rs61753166
NM_003159.2(CDKL5):c.2714-1544C>T rs61753166
NM_003159.2(CDKL5):c.2714-1554T>A rs61753167
NM_003159.2(CDKL5):c.2714-1556C>G rs61753168
NM_003159.2(CDKL5):c.2714-1578C>A rs281865348
NM_003159.2(CDKL5):c.2714-1578C>T rs281865348
NM_003159.2(CDKL5):c.2714-1582C>T rs200074383
NM_003159.2(CDKL5):c.2714-3849T>C rs281865349
NM_003159.2(CDKL5):c.2714-3861C>T rs61753169
NM_003159.2(CDKL5):c.2714-3863T>C rs61753170
NM_003159.2(CDKL5):c.2714-3872G>A rs61753171
NM_003159.2(CDKL5):c.2714-3877_2714-3876dup rs61753172
NM_003159.2(CDKL5):c.2714-3882G>A rs61753173
NM_003159.2(CDKL5):c.2714-3902G>A rs61753174
NM_003159.2(CDKL5):c.2714-3902G>T rs61753174
NM_003159.2(CDKL5):c.2714-3902dup rs199469697
NM_003159.2(CDKL5):c.2714-3903G>C rs61753175
NM_003159.2(CDKL5):c.2714-3905G>A rs281865351
NM_003159.2(CDKL5):c.2714-3905_2714-3904insA rs281865350
NM_003159.2(CDKL5):c.2714-3906G>A rs281865352
NM_003159.2(CDKL5):c.2714-3917G>A rs281865354
NM_003159.2(CDKL5):c.2714-3918C>G rs281865355
NM_003159.2(CDKL5):c.2714-3918C>T rs281865355
NM_003159.2(CDKL5):c.2714-3924A>G rs281865356
NM_003159.2(CDKL5):c.2714-3926G>A rs281865357
NM_003159.2(CDKL5):c.2714-3927C>T rs281865358
NM_003159.2(CDKL5):c.2714-3934G>A rs1800003
NM_003159.2(CDKL5):c.2714-3936G>A rs104894930
NM_003159.2(CDKL5):c.2714-3946C>T rs281865359
NM_003159.2(CDKL5):c.2714-3949G>C rs281865360
NM_003159.2(CDKL5):c.2714-3953G>A rs281865361
NM_003159.2(CDKL5):c.2714-3953G>C rs281865361
NM_003159.2(CDKL5):c.2714-3954C>T rs281865362
NM_003159.2(CDKL5):c.2714-3959C>T rs281865363
NM_003159.2(CDKL5):c.2714-3965G>A rs281865365
NM_003159.2(CDKL5):c.2714-3966C>T rs281865364
NM_003159.2(CDKL5):c.2714-3966del rs281865366
NM_003159.2(CDKL5):c.2714-3971C>G rs281865367
NM_003159.2(CDKL5):c.2714-3971C>T rs281865367
NM_003159.2(CDKL5):c.2714-3975A>G rs281865368
NM_003159.2(CDKL5):c.2714-3983A>C rs281865369
NM_003159.2(CDKL5):c.2714-3983A>G rs281865369
NM_003159.2(CDKL5):c.2714-3983del rs281865370
NM_003159.2(CDKL5):c.2714-3994C>G rs1800004
NM_003159.2(CDKL5):c.2714-4007_2714-3983del rs281865371
NM_003159.2(CDKL5):c.2797+1100C>T rs281865346
NM_003159.2(CDKL5):c.2797+1101C>T rs281865345
NM_003159.2(CDKL5):c.2797+1102C>A rs104894934
NM_003159.2(CDKL5):c.2797+1102C>G rs104894934
NM_003159.2(CDKL5):c.2797+1104A>C rs61752072
NM_003159.2(CDKL5):c.2797+1110dup rs61752071
NM_003159.2(CDKL5):c.2797+1115G>C rs61752070
NM_003159.2(CDKL5):c.2797+1119A>C rs61752069
NM_003159.2(CDKL5):c.2797+1122C>T rs61752068
NM_003159.2(CDKL5):c.2797+1123G>A rs61752067
NM_003159.2(CDKL5):c.2797+1126C>G rs61752066
NM_003159.2(CDKL5):c.2797+1127del rs63465862
NM_003159.2(CDKL5):c.2797+1134G>T rs61752065
NM_003159.2(CDKL5):c.2797+1139C>T rs61752064
NM_003159.2(CDKL5):c.2797+1141A>G rs61752063
NM_003159.2(CDKL5):c.2797+1151C>G rs61752062
NM_003159.2(CDKL5):c.2797+1160A>T rs61752061
NM_003159.2(CDKL5):c.2797+1161T>C rs61752060
NM_003159.2(CDKL5):c.2797+1165G>A rs61750459
NM_003159.2(CDKL5):c.2797+1172_2797+1174del rs61750458
NM_003159.2(CDKL5):c.2797+1185A>T rs61750457
NM_003159.2(CDKL5):c.2797+1204C>A rs62641252
NM_003159.2(CDKL5):c.2797+1206C>A rs104894933
NM_003159.2(CDKL5):c.2797+1208del rs62645900
NM_003159.2(CDKL5):c.2797+1210A>G rs62645899
NM_003159.2(CDKL5):c.2797+1211C>G rs104894932
NM_003159.2(CDKL5):c.2797+1213C>G rs104894928
NM_003159.2(CDKL5):c.2797+1213C>T rs104894928
NM_003159.2(CDKL5):c.2797+1218C>T rs62645895
NM_003159.2(CDKL5):c.2797+1219C>G rs62645894
NM_003159.2(CDKL5):c.2797+1233T>C rs62645892
NM_003159.2(CDKL5):c.2797+1233del rs62645893
NM_003159.2(CDKL5):c.2797+1243C>G rs281865344
NM_003322.6(TULP1):c.1259G>C (p.Arg420Pro) rs121909073
NM_003322.6(TULP1):c.1362G>A (p.Thr454=) rs41270076
NM_003322.6(TULP1):c.1375A>C (p.Ile459Leu) rs281865533
NM_003322.6(TULP1):c.1466A>G (p.Lys489Arg) rs62636511
NM_003322.6(TULP1):c.1486G>A (p.Ala496Thr) rs141980901
NM_003322.6(TULP1):c.1495+1G>A rs281865168
NM_003322.6(TULP1):c.1496-6C>A rs281865171
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.776T>C (p.Ile259Thr) rs2064317
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_004183.3(BEST1):c.884_886delTCA (p.Ile295del) rs121918283
NM_004183.4(BEST1):c.*89dup rs281865284
NM_004183.4(BEST1):c.1023C>T (p.Pro341=) rs1801390
NM_004183.4(BEST1):c.1026G>A (p.Glu342=) rs281865282
NM_004183.4(BEST1):c.109T>C (p.Leu37=) rs1800007
NM_004183.4(BEST1):c.122T>C (p.Leu41Pro) rs121918288
NM_004183.4(BEST1):c.140G>A (p.Arg47His) rs28940278
NM_004183.4(BEST1):c.1468_1469CA[1] (p.His490fs) rs281865528
NM_004183.4(BEST1):c.1557C>T (p.Ser519=) rs1800008
NM_004183.4(BEST1):c.1574A>C (p.Glu525Ala) rs200582915
NM_004183.4(BEST1):c.1608T>C (p.Thr536=) rs1800009
NM_004183.4(BEST1):c.165G>A (p.Thr55=) rs62637050
NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys) rs147192139
NM_004183.4(BEST1):c.1681A>G (p.Thr561Ala) rs281865283
NM_004183.4(BEST1):c.1699C>T (p.Leu567Phe) rs148060787
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.1740-27T>C rs62640569
NM_004183.4(BEST1):c.17C>G (p.Thr6Arg) rs281865204
NM_004183.4(BEST1):c.201G>C (p.Leu67=) rs1801393
NM_004183.4(BEST1):c.217A>C (p.Ile73Leu) rs281865220
NM_004183.4(BEST1):c.219C>A (p.Ile73=) rs1109748
NM_004183.4(BEST1):c.222G>A (p.Gln74=) rs1805141
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.248-26C>T rs62639354
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>A (p.Arg92Ser) rs281865224
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.313C>T (p.Arg105Cys) rs281865273
NM_004183.4(BEST1):c.32A>T (p.Asn11Ile) rs281865208
NM_004183.4(BEST1):c.33T>C (p.Asn11=) rs281865531
NM_004183.4(BEST1):c.355G>C (p.Glu119Gln) rs1805142
NM_004183.4(BEST1):c.38G>A (p.Arg13His) rs281865209
NM_004183.4(BEST1):c.399C>G (p.Asn133Lys) rs281865233
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.421C>A (p.Arg141Ser) rs281865236
NM_004183.4(BEST1):c.422G>A (p.Arg141His) rs121918284
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.584C>T (p.Ala195Val) rs200277476
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr) rs199529046
NM_004183.4(BEST1):c.619C>A (p.Leu207Ile) rs74653691
NM_004183.4(BEST1):c.61C>G (p.Leu21Val) rs281865212
NM_004183.4(BEST1):c.624G>A (p.Gln208=) rs150247275
NM_004183.4(BEST1):c.626G>A (p.Ser209Asn) rs281865237
NM_004183.4(BEST1):c.636+1G>C rs62637337
NM_004183.4(BEST1):c.637-6C>T rs62639356
NM_004183.4(BEST1):c.647C>T (p.Thr216Ile) rs281865275
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.653G>A (p.Arg218His) rs281865239
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.696C>A (p.Ile232=) rs1805140
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.74G>A (p.Arg25Gln) rs281865215
NM_004183.4(BEST1):c.81C>G (p.Ser27Arg) rs281865216
NM_004183.4(BEST1):c.823G>A (p.Val275Ile) rs281865276
NM_004183.4(BEST1):c.828C>G (p.Phe276Leu) rs281865248
NM_004183.4(BEST1):c.842_844TCT[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.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.89A>G (p.Lys30Arg) rs281865218
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.901_903GAT[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.933C>T (p.Val311=) rs281865278
NM_004183.4(BEST1):c.934G>A (p.Asp312Asn) rs281865277
NM_004183.4(BEST1):c.949-21del rs62640560
NM_004744.5(LRAT):c.342G>A (p.Glu114=) rs17031981
NM_004744.5(LRAT):c.525T>A (p.Ser175Arg) rs104893848
NM_014336.5(AIPL1):c.1008_1009AG[1] (p.Glu337fs) rs62637016
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) rs281865195
NM_014336.5(AIPL1):c.111C>T (p.Phe37=) rs11650007
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484
NM_014336.5(AIPL1):c.157C>T (p.Arg53Trp) rs62637008
NM_014336.5(AIPL1):c.234C>T (p.Ser78=) rs62635774
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.267C>T (p.Cys89=) rs62653020
NM_014336.5(AIPL1):c.268G>C (p.Asp90His) rs12449580
NM_014336.5(AIPL1):c.276+66G>C rs117325136
NM_014336.5(AIPL1):c.277-10A>C rs12453262
NM_014336.5(AIPL1):c.277-14G>A rs117749485
NM_014336.5(AIPL1):c.277-2A>G rs140808549
NM_014336.5(AIPL1):c.277-88C>T rs75839062
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile) rs62619924
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile) rs8069375
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.516T>C (p.His172=) rs62637017
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.651A>G (p.Pro217=) rs2292546
NM_014336.5(AIPL1):c.715T>C (p.Cys239Arg) rs62637012
NM_014336.5(AIPL1):c.765T>C (p.Asp255=) rs62637018
NM_014336.5(AIPL1):c.784+18G>A rs7222126
NM_014336.5(AIPL1):c.784G>A (p.Gly262Ser) rs142326926
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu) rs62637015
NM_014336.5(AIPL1):c.97-9G>A rs140124986
NM_020366.3(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020366.3(RPGRIP1):c.1525C>T (p.Gln509Ter) rs61751267
NM_020366.3(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259
NM_020366.3(RPGRIP1):c.1707T>G (p.Asn569Lys) rs61751273
NM_020366.3(RPGRIP1):c.1797G>A (p.Pro599=) rs9322965
NM_020366.3(RPGRIP1):c.195G>A (p.Trp65Ter) rs62646878
NM_020366.3(RPGRIP1):c.2237G>A (p.Gly746Glu) rs61751268
NM_020366.3(RPGRIP1):c.2480G>T (p.Arg827Leu) rs28937883
NM_020366.3(RPGRIP1):c.2565_2566insTT (p.Leu856fs) rs61751269
NM_020366.3(RPGRIP1):c.256C>T (p.Arg86Trp) rs62646879
NM_020366.3(RPGRIP1):c.2627A>G (p.Asp876Gly) rs61751274
NM_020366.3(RPGRIP1):c.2760dup (p.Val921fs) rs1555302659
NM_020366.3(RPGRIP1):c.287C>A (p.Pro96Gln) rs1040904
NM_020366.3(RPGRIP1):c.3546C>T (p.Asp1182=) rs34116882
NM_020366.3(RPGRIP1):c.3609del (p.Gln1204fs) rs61751271
NM_020366.3(RPGRIP1):c.3628_3629insG (p.Thr1210fs) rs61751272
NM_020366.3(RPGRIP1):c.3780A>T (p.Ile1260=) rs281865294
NM_020366.3(RPGRIP1):c.3835_3837del (p.Glu1279del) rs281865293
NM_020366.3(RPGRIP1):c.511del (p.Tyr171fs) rs61751265
NM_020366.3(RPGRIP1):c.525A>G (p.Pro175=) rs17792599
NM_020366.3(RPGRIP1):c.574A>G (p.Lys192Glu) rs6571751
NM_022567.2(NYX):c.1040T>C (p.Leu347Pro) rs62637036
NM_022567.2(NYX):c.1049G>A (p.Trp350Ter) rs62637037
NM_022567.2(NYX):c.105C>A (p.Cys35Ter) rs62637021
NM_022567.2(NYX):c.1109G>T (p.Gly370Val) rs62637038
NM_022567.2(NYX):c.340_354del (p.Glu114_Ala118del) rs63749061
NM_022567.2(NYX):c.427G>C (p.Ala143Pro) rs62637023
NM_022567.2(NYX):c.452C>T (p.Pro151Leu) rs62637024
NM_022567.2(NYX):c.524C>G (p.Pro175Arg) rs62637025
NM_022567.2(NYX):c.551T>C (p.Leu184Pro) rs62637026
NM_022567.2(NYX):c.559_560delinsAA (p.Ala187Lys) rs62637027
NM_022567.2(NYX):c.638T>A (p.Leu213Gln) rs62637028
NM_022567.2(NYX):c.647A>T (p.Asn216Ile) rs62637029
NM_022567.2(NYX):c.695T>C (p.Leu232Pro) rs62637030
NM_022567.2(NYX):c.732_743del (p.Glu244_Ala247del) rs63749062
NM_022567.2(NYX):c.792C>G (p.Asn264Lys) rs62637032
NM_022567.2(NYX):c.854T>C (p.Leu285Pro) rs62637033
NM_022567.2(NYX):c.85_108del (p.Arg29_Ala36del) rs281865194
NM_022567.2(NYX):c.893T>C (p.Phe298Ser) rs62637034
NM_022567.2(NYX):c.92G>C (p.Cys31Ser) rs62637020
NM_022567.2(NYX):c.935A>G (p.Asn312Ser) rs62637035
NM_025114.3(CEP290):c.1550delT (p.Leu517Terfs) rs62640579
NM_025114.3(CEP290):c.181-1G>T rs281865190
NM_025114.3(CEP290):c.2055T>C (p.Ala685=) rs45465996
NM_025114.3(CEP290):c.2118_2122dupTCAGC (p.Thr709Serfs) rs62640580
NM_025114.3(CEP290):c.21G>T (p.Trp7Cys) rs62635288
NM_025114.3(CEP290):c.2218-4_2222del rs281865193
NM_025114.3(CEP290):c.265dupA (p.Thr89Asnfs) rs281865191
NM_025114.3(CEP290):c.2991+1655A>G rs281865192
NM_025114.3(CEP290):c.3175dupA (p.Ile1059Asnfs) rs62640570
NM_025114.3(CEP290):c.3176dupT (p.Thr1060Asnfs) rs62640571
NM_025114.3(CEP290):c.3814C>T (p.Arg1272Ter) rs62640581
NM_025114.3(CEP290):c.4115_4116delTA (p.Ile1372Lysfs) rs62640582
NM_025114.3(CEP290):c.4656delA (p.Glu1553Lysfs) rs62640572
NM_025114.3(CEP290):c.4732G>T (p.Glu1578Ter) rs62640573
NM_025114.3(CEP290):c.4771C>T (p.Gln1591Ter) rs62640574
NM_025114.3(CEP290):c.4966G>T (p.Glu1656Ter) rs62638179
NM_025114.3(CEP290):c.5424T>C (p.Ser1808=) rs62640575
NM_025114.3(CEP290):c.5515_5518delGAGA (p.Glu1839Lysfs) rs281865187
NM_025114.3(CEP290):c.5649dupA (p.Leu1884Thrfs) rs281865188
NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_025114.3(CEP290):c.5813_5817delCTTTA (p.Thr1938Asnfs) rs62638180
NM_025114.3(CEP290):c.6331C>T (p.Gln2111Ter) rs62640577
NM_025114.3(CEP290):c.679_680delGA (p.Glu227Serfs) rs62640578
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.1428C>T (p.Thr476=) rs62636282
NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg) rs62636264
NM_201253.3(CRB1):c.1439G>A (p.Cys480Tyr) rs62636265
NM_201253.3(CRB1):c.1647T>C (p.Asn549=) rs62636283
NM_201253.3(CRB1):c.2035C>G (p.Gln679Glu) rs62636286
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.2234C>T (p.Thr745Met) rs28939720
NM_201253.3(CRB1):c.2245_2247del (p.Ser749del) rs62635653
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654
NM_201253.3(CRB1):c.2306G>A (p.Arg769His) rs62636287
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.253_254TG[4] (p.Asn87Ter) rs62636260
NM_201253.3(CRB1):c.2549_2552del (p.Gly850fs) rs62636270
NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr) rs62636271
NM_201253.3(CRB1):c.2613dup (p.Ala872fs) rs62636272
NM_201253.3(CRB1):c.2671T>G (p.Cys891Gly) rs62635658
NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser) rs62636290
NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter) rs62636273
NM_201253.3(CRB1):c.2823G>A (p.Pro941=) rs62645757
NM_201253.3(CRB1):c.2842T>A (p.Cys948Ser) rs62645747
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748
NM_201253.3(CRB1):c.2853dup (p.Ala952fs) rs281865173
NM_201253.3(CRB1):c.2883_2885ATT[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.3122T>C (p.Met1041Thr) rs62635656
NM_201253.3(CRB1):c.3171C>T (p.Asn1057=) rs62636284
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.3307G>A (p.Gly1103Arg) rs62636275
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro) rs62636276
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.3949A>C (p.Asn1317His) rs62636281
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.3992G>A (p.Arg1331His) rs62636285
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.430T>G (p.Phe144Val) rs62636262
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.614T>C (p.Ile205Thr) rs62645749
NM_201253.3(CRB1):c.616_621del (p.Gly206_Arg207del) rs62645753
NM_201253.3(CRB1):c.750T>G (p.Cys250Trp) rs62635652
NM_201253.3(CRB1):c.866C>T (p.Thr289Met) rs62636263

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