ClinVar Miner

List of variants studied for Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis

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ClinVar version:
Total variants: 3205
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.2268A>G (p.Ser756=) rs2468255 0.91372
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425 0.87640
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
NM_025114.4(CEP290):c.2268= (p.Ser756=) rs2468255 0.08628
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738 0.05247
NM_025114.4(CEP290):c.6357+20A>T rs7971699 0.05185
NM_025114.4(CEP290):c.442-19T>A rs113132803 0.05166
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793 0.05017
NM_025114.4(CEP290):c.5709+18C>A rs7973969 0.05003
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp) rs7970228 0.04262
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459 0.02377
NM_025114.4(CEP290):c.251-10A>T rs190383141 0.02052
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698 0.02050
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=) rs150138016 0.00760
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00714
NM_025114.4(CEP290):c.1624-5T>C rs142742071 0.00704
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=) rs79644671 0.00692
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808 0.00637
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu) rs147371999 0.00585
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00488
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729 0.00463
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_025114.4(CEP290):c.1522+6C>T rs148446546 0.00371
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_025114.4(CEP290):c.6960+10G>A rs75011402 0.00305
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459 0.00231
NM_025114.4(CEP290):c.251-11T>A rs200666995 0.00200
NM_025114.4(CEP290):c.5255G>A (p.Arg1752Gln) rs116469117 0.00196
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038 0.00187
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276 0.00187
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly) rs200211587 0.00134
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492 0.00133
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn) rs184143186 0.00125
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=) rs181248369 0.00106
NM_025114.4(CEP290):c.1716A>G (p.Leu572=) rs372349042 0.00098
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=) rs201614215 0.00091
NM_025114.4(CEP290):c.6646-16T>C rs367543543 0.00076
NM_025114.4(CEP290):c.2487A>G (p.Glu829=) rs371159780 0.00073
NM_025114.4(CEP290):c.341G>A (p.Arg114His) rs150296134 0.00073
NM_025114.4(CEP290):c.4031T>C (p.Val1344Ala) rs369227219 0.00067
NM_025114.4(CEP290):c.1670G>A (p.Arg557His) rs184018899 0.00064
NM_025114.4(CEP290):c.3574-3C>G rs781450470 0.00062
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433 0.00058
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr) rs373913704 0.00057
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582 0.00054
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr) rs199583200 0.00053
NM_025114.4(CEP290):c.4705-18C>T rs199751805 0.00052
NM_025114.4(CEP290):c.854T>G (p.Val285Gly) rs1307751555 0.00052
NM_025114.4(CEP290):c.6136-19T>G rs377613416 0.00050
NM_025114.4(CEP290):c.2595C>T (p.Leu865=) rs114632733 0.00046
NM_025114.4(CEP290):c.2667G>T (p.Leu889Phe) rs142038791 0.00046
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_025114.4(CEP290):c.1360-4T>G rs200328638 0.00040
NM_025114.4(CEP290):c.943-8A>T rs200729812 0.00037
NM_025114.4(CEP290):c.943-4C>T rs199770158 0.00034
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn) rs199747962 0.00032
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val) rs201569048 0.00032
NM_025114.4(CEP290):c.5364+14C>T rs529387927 0.00032
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly) rs192259143 0.00032
NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser) rs191613017 0.00032
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp) rs201353893 0.00031
NM_025114.4(CEP290):c.2615C>T (p.Ser872Leu) rs373341530 0.00030
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946 0.00030
NM_025114.4(CEP290):c.3102A>G (p.Leu1034=) rs201160801 0.00029
NM_025114.4(CEP290):c.503G>A (p.Arg168His) rs200063017 0.00029
NM_025114.4(CEP290):c.6078A>G (p.Gln2026=) rs763570903 0.00029
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00028
NM_025114.4(CEP290):c.384T>C (p.Asp128=) rs76267039 0.00026
NM_025114.4(CEP290):c.1742A>C (p.Glu581Ala) rs77579747 0.00025
NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn) rs201982308 0.00023
NM_025114.4(CEP290):c.3574-15T>A rs565414938 0.00022
NM_025114.4(CEP290):c.3787C>A (p.Leu1263Met) rs370395204 0.00022
NM_025114.4(CEP290):c.6558T>G (p.His2186Gln) rs772603458 0.00022
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys) rs374852145 0.00022
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467 0.00022
NM_025114.4(CEP290):c.3408A>G (p.Gln1136=) rs11836796 0.00021
NM_025114.4(CEP290):c.442-18T>A rs532622908 0.00021
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly) rs184323010 0.00021
NM_025114.4(CEP290):c.1729C>T (p.Leu577=) rs201295052 0.00020
NM_025114.4(CEP290):c.4182G>A (p.Val1394=) rs371530941 0.00020
NM_025114.4(CEP290):c.2446C>T (p.Arg816Cys) rs374656545 0.00019
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp) rs200969981 0.00019
NM_025114.4(CEP290):c.7276G>A (p.Asp2426Asn) rs200178519 0.00019
NM_025114.4(CEP290):c.853-9G>A rs974759127 0.00019
NM_025114.4(CEP290):c.4360G>A (p.Glu1454Lys) rs369902368 0.00018
NM_025114.4(CEP290):c.3955T>C (p.Leu1319=) rs182851622 0.00017
NM_025114.4(CEP290):c.495+16A>G rs759513874 0.00017
NM_025114.4(CEP290):c.853G>A (p.Val285Met) rs555462587 0.00017
NM_025114.4(CEP290):c.1918T>C (p.Leu640=) rs541138095 0.00016
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) rs140236736 0.00016
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu) rs200817579 0.00016
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys) rs202159966 0.00016
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val) rs183071230 0.00015
NM_025114.4(CEP290):c.3135A>G (p.Lys1045=) rs370622537 0.00014
NM_025114.4(CEP290):c.4317A>C (p.Thr1439=) rs375966721 0.00014
NM_025114.4(CEP290):c.1384G>A (p.Val462Ile) rs374199052 0.00013
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter) rs386834153 0.00013
NM_025114.4(CEP290):c.3442C>G (p.Leu1148Val) rs372190684 0.00013
NM_025114.4(CEP290):c.4978T>A (p.Leu1660Ile) rs372557655 0.00013
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile) rs200587974 0.00013
NM_025114.4(CEP290):c.6876C>T (p.Ser2292=) rs538590274 0.00013
NM_025114.4(CEP290):c.1667T>A (p.Ile556Asn) rs727503854 0.00012
NM_025114.4(CEP290):c.31A>G (p.Met11Val) rs185939120 0.00012
NM_025114.4(CEP290):c.4068T>G (p.Leu1356=) rs377227262 0.00012
NM_025114.4(CEP290):c.5125C>A (p.Gln1709Lys) rs367580207 0.00012
NM_025114.4(CEP290):c.5338G>A (p.Val1780Ile) rs368492668 0.00012
NM_025114.4(CEP290):c.7075A>C (p.Ile2359Leu) rs183387506 0.00012
NM_025114.4(CEP290):c.904A>G (p.Ile302Val) rs764495570 0.00012
NM_025114.4(CEP290):c.2473G>A (p.Glu825Lys) rs779666225 0.00011
NM_025114.4(CEP290):c.4088G>A (p.Arg1363Gln) rs188502327 0.00011
NM_025114.4(CEP290):c.4741C>T (p.Leu1581Phe) rs11831931 0.00011
NM_025114.4(CEP290):c.5521G>A (p.Glu1841Lys) rs200158553 0.00011
NM_025114.4(CEP290):c.6142G>C (p.Gly2048Arg) rs377000187 0.00011
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His) rs371833544 0.00011
NM_025114.4(CEP290):c.6806T>C (p.Ile2269Thr) rs200090371 0.00011
NM_025114.4(CEP290):c.6960+9C>T rs373226012 0.00011
NM_025114.4(CEP290):c.298-15G>T rs756197493 0.00010
NM_025114.4(CEP290):c.3375T>A (p.Ser1125Arg) rs746874509 0.00010
NM_025114.4(CEP290):c.3773A>G (p.Asn1258Ser) rs200830750 0.00010
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=) rs371582975 0.00010
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala) rs375817905 0.00010
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908 0.00010
NM_025114.4(CEP290):c.6005A>G (p.Tyr2002Cys) rs573872325 0.00010
NM_025114.4(CEP290):c.6572A>T (p.His2191Leu) rs368428115 0.00010
NM_025114.4(CEP290):c.6684T>G (p.Asn2228Lys) rs373711746 0.00010
NM_025114.4(CEP290):c.834C>T (p.Asn278=) rs567493515 0.00010
NM_025114.4(CEP290):c.93C>T (p.Ser31=) rs375955381 0.00010
NM_025114.4(CEP290):c.2098C>T (p.His700Tyr) rs369104382 0.00009
NM_025114.4(CEP290):c.3195G>A (p.Lys1065=) rs778596948 0.00009
NM_025114.4(CEP290):c.4437+1G>A rs760915898 0.00009
NM_025114.4(CEP290):c.4438-13T>C rs528298900 0.00009
NM_025114.4(CEP290):c.4577A>T (p.Glu1526Val) rs760625332 0.00009
NM_025114.4(CEP290):c.5012+10C>T rs191369238 0.00009
NM_025114.4(CEP290):c.5055G>A (p.Ala1685=) rs73192874 0.00009
NM_025114.4(CEP290):c.5421A>G (p.Thr1807=) rs370464321 0.00009
NM_025114.4(CEP290):c.102+15A>G rs372102947 0.00008
NM_025114.4(CEP290):c.1825-8T>G rs769405843 0.00008
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe) rs546463648 0.00008
NM_025114.4(CEP290):c.4343C>G (p.Pro1448Arg) rs757356455 0.00008
NM_025114.4(CEP290):c.4695A>G (p.Lys1565=) rs189871589 0.00008
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00008
NM_025114.4(CEP290):c.5226+19T>C rs547955106 0.00008
NM_025114.4(CEP290):c.6320A>G (p.Lys2107Arg) rs755933899 0.00008
NM_025114.4(CEP290):c.974T>C (p.Ile325Thr) rs769705837 0.00008
NM_025114.4(CEP290):c.1360-10T>C rs372180862 0.00007
NM_025114.4(CEP290):c.1523-6T>C rs755202424 0.00007
NM_025114.4(CEP290):c.2128G>A (p.Gly710Arg) rs377142184 0.00007
NM_025114.4(CEP290):c.3573+3A>G rs199520739 0.00007
NM_025114.4(CEP290):c.3778G>A (p.Ala1260Thr) rs375609644 0.00007
NM_025114.4(CEP290):c.3785A>T (p.His1262Leu) rs752253318 0.00007
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409 0.00007
NM_025114.4(CEP290):c.5227-9A>G rs571981633 0.00007
NM_025114.4(CEP290):c.5395T>G (p.Leu1799Val) rs1289111857 0.00007
NM_025114.4(CEP290):c.660T>C (p.Asp220=) rs777201814 0.00007
NM_025114.4(CEP290):c.1440A>G (p.Glu480=) rs777299440 0.00006
NM_025114.4(CEP290):c.189T>C (p.Ala63=) rs996908777 0.00006
NM_025114.4(CEP290):c.2616G>A (p.Ser872=) rs776360559 0.00006
NM_025114.4(CEP290):c.3309+19T>C rs777835628 0.00006
NM_025114.4(CEP290):c.3486C>T (p.Ala1162=) rs376583223 0.00006
NM_025114.4(CEP290):c.3564A>G (p.Leu1188=) rs900618917 0.00006
NM_025114.4(CEP290):c.4063C>T (p.Arg1355Cys) rs376425111 0.00006
NM_025114.4(CEP290):c.4411C>T (p.Arg1471Trp) rs771110294 0.00006
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg) rs199826787 0.00006
NM_025114.4(CEP290):c.4805C>T (p.Thr1602Met) rs369451049 0.00006
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter) rs62638179 0.00006
NM_025114.4(CEP290):c.5012+15T>C rs538803349 0.00006
NM_025114.4(CEP290):c.5186G>A (p.Arg1729Gln) rs535531689 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_025114.4(CEP290):c.5709+12A>G rs371010287 0.00006
NM_025114.4(CEP290):c.6358-5C>T rs372986399 0.00006
NM_025114.4(CEP290):c.6477T>A (p.Thr2159=) rs556820066 0.00006
NM_025114.4(CEP290):c.6909A>C (p.Ala2303=) rs774138995 0.00006
NM_025114.4(CEP290):c.6986A>G (p.Glu2329Gly) rs772648931 0.00006
NM_025114.4(CEP290):c.7340A>C (p.Lys2447Thr) rs201382524 0.00006
NM_025114.4(CEP290):c.1105G>A (p.Glu369Lys) rs373414042 0.00005
NM_025114.4(CEP290):c.1712-14T>A rs765835575 0.00005
NM_025114.4(CEP290):c.1945G>A (p.Glu649Lys) rs761705359 0.00005
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) rs386834152 0.00005
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala) rs375038986 0.00005
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser) rs147362398 0.00005
NM_025114.4(CEP290):c.2967A>G (p.Arg989=) rs371556205 0.00005
NM_025114.4(CEP290):c.4132A>G (p.Ile1378Val) rs532041890 0.00005
NM_025114.4(CEP290):c.4186C>G (p.Gln1396Glu) rs1459653241 0.00005
NM_025114.4(CEP290):c.441+18T>C rs756876705 0.00005
NM_025114.4(CEP290):c.442-20_442-19insA rs772322663 0.00005
NM_025114.4(CEP290):c.4865G>A (p.Arg1622His) rs758453972 0.00005
NM_025114.4(CEP290):c.5127G>T (p.Gln1709His) rs757738553 0.00005
NM_025114.4(CEP290):c.6134C>T (p.Ser2045Leu) rs546731422 0.00005
NM_025114.4(CEP290):c.6358-4G>A rs369154492 0.00005
NM_025114.4(CEP290):c.6522+7T>G rs754878322 0.00005
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00005
NM_025114.4(CEP290):c.755A>T (p.Lys252Met) rs991079890 0.00005
NM_025114.4(CEP290):c.998A>C (p.Asn333Thr) rs376033047 0.00005
NM_025114.4(CEP290):c.1712-3T>C rs376688469 0.00004
NM_025114.4(CEP290):c.1905T>C (p.Asn635=) rs778341097 0.00004
NM_025114.4(CEP290):c.2217+6A>G rs139027723 0.00004
NM_025114.4(CEP290):c.2218-5T>C rs939517627 0.00004
NM_025114.4(CEP290):c.2218A>G (p.Ile740Val) rs754736974 0.00004
NM_025114.4(CEP290):c.2244T>C (p.Ser748=) rs979564116 0.00004
NM_025114.4(CEP290):c.2740A>G (p.Asn914Asp) rs372321551 0.00004
NM_025114.4(CEP290):c.2784T>C (p.Val928=) rs774271927 0.00004
NM_025114.4(CEP290):c.288T>C (p.Asn96=) rs367691481 0.00004
NM_025114.4(CEP290):c.2907C>T (p.Tyr969=) rs376462144 0.00004
NM_025114.4(CEP290):c.3028A>G (p.Ile1010Val) rs1038566350 0.00004
NM_025114.4(CEP290):c.3230A>G (p.Gln1077Arg) rs200668620 0.00004
NM_025114.4(CEP290):c.3251G>A (p.Arg1084Gln) rs769274354 0.00004
NM_025114.4(CEP290):c.3273G>A (p.Glu1091=) rs771584252 0.00004
NM_025114.4(CEP290):c.3517C>A (p.Gln1173Lys) rs776053422 0.00004
NM_025114.4(CEP290):c.3747C>T (p.Leu1249=) rs779178851 0.00004
NM_025114.4(CEP290):c.3758G>A (p.Arg1253His) rs763801479 0.00004
NM_025114.4(CEP290):c.3791G>A (p.Arg1264His) rs774144082 0.00004
NM_025114.4(CEP290):c.4064G>A (p.Arg1355His) rs548558619 0.00004
NM_025114.4(CEP290):c.4151G>A (p.Arg1384His) rs143152287 0.00004
NM_025114.4(CEP290):c.4240C>G (p.Leu1414Val) rs762417751 0.00004
NM_025114.4(CEP290):c.4404A>G (p.Leu1468=) rs779186037 0.00004
NM_025114.4(CEP290):c.4438-3del rs747323414 0.00004
NM_025114.4(CEP290):c.4523G>A (p.Arg1508Gln) rs568197175 0.00004
NM_025114.4(CEP290):c.4809T>C (p.Ala1603=) rs372592245 0.00004
NM_025114.4(CEP290):c.4963A>C (p.Arg1655=) rs1161295348 0.00004
NM_025114.4(CEP290):c.5012+11G>A rs778779951 0.00004
NM_025114.4(CEP290):c.534G>T (p.Gln178His) rs368025801 0.00004
NM_025114.4(CEP290):c.5967A>T (p.Leu1989Phe) rs368095421 0.00004
NM_025114.4(CEP290):c.6191A>G (p.Glu2064Gly) rs987259388 0.00004
NM_025114.4(CEP290):c.6271-15C>T rs764251517 0.00004
NM_025114.4(CEP290):c.814G>A (p.Asp272Asn) rs866480852 0.00004
NM_025114.4(CEP290):c.852+14T>C rs571313482 0.00004
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter) rs776645403 0.00003
NM_025114.4(CEP290):c.1104C>T (p.Thr368=) rs483352755 0.00003
NM_025114.4(CEP290):c.1189+16T>C rs1325439943 0.00003
NM_025114.4(CEP290):c.1306G>A (p.Glu436Lys) rs551533386 0.00003
NM_025114.4(CEP290):c.1359G>A (p.Ser453=) rs779195306 0.00003
NM_025114.4(CEP290):c.1386C>T (p.Val462=) rs886038689 0.00003
NM_025114.4(CEP290):c.1387G>A (p.Val463Ile) rs558414868 0.00003
NM_025114.4(CEP290):c.1448C>T (p.Thr483Ile) rs373303674 0.00003
NM_025114.4(CEP290):c.1523-18T>C rs770216955 0.00003
NM_025114.4(CEP290):c.1664A>T (p.Lys555Ile) rs369231584 0.00003
NM_025114.4(CEP290):c.1669C>T (p.Arg557Cys) rs561018129 0.00003
NM_025114.4(CEP290):c.2029C>T (p.Pro677Ser) rs375523390 0.00003
NM_025114.4(CEP290):c.204G>A (p.Leu68=) rs780930630 0.00003
NM_025114.4(CEP290):c.2129G>C (p.Gly710Ala) rs969763835 0.00003
NM_025114.4(CEP290):c.2367+4T>C rs1413934261 0.00003
NM_025114.4(CEP290):c.2394A>G (p.Leu798=) rs542236778 0.00003
NM_025114.4(CEP290):c.2447G>A (p.Arg816His) rs768448895 0.00003
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter) rs886042153 0.00003
NM_025114.4(CEP290):c.2723G>A (p.Arg908Gln) rs369746468 0.00003
NM_025114.4(CEP290):c.2763G>A (p.Leu921=) rs760283430 0.00003
NM_025114.4(CEP290):c.2901A>T (p.Lys967Asn) rs756472731 0.00003
NM_025114.4(CEP290):c.3178A>G (p.Thr1060Ala) rs948383352 0.00003
NM_025114.4(CEP290):c.3246C>T (p.His1082=) rs539042966 0.00003
NM_025114.4(CEP290):c.3310-7T>G rs373298179 0.00003
NM_025114.4(CEP290):c.3462-11T>C rs1296210160 0.00003
NM_025114.4(CEP290):c.3462-12A>G rs778134699 0.00003
NM_025114.4(CEP290):c.3539T>C (p.Val1180Ala) rs996255630 0.00003
NM_025114.4(CEP290):c.3593C>T (p.Ser1198Leu) rs372640024 0.00003
NM_025114.4(CEP290):c.3664G>A (p.Glu1222Lys) rs770015278 0.00003
NM_025114.4(CEP290):c.3843A>G (p.Ala1281=) rs777382672 0.00003
NM_025114.4(CEP290):c.4121A>G (p.Tyr1374Cys) rs1337676817 0.00003
NM_025114.4(CEP290):c.4195-9T>C rs546957016 0.00003
NM_025114.4(CEP290):c.4356A>G (p.Gln1452=) rs756607245 0.00003
NM_025114.4(CEP290):c.4437+11G>T rs145529128 0.00003
NM_025114.4(CEP290):c.4578G>A (p.Glu1526=) rs775294433 0.00003
NM_025114.4(CEP290):c.4707G>A (p.Glu1569=) rs376242512 0.00003
NM_025114.4(CEP290):c.4837C>G (p.Pro1613Ala) rs769280708 0.00003
NM_025114.4(CEP290):c.4972A>G (p.Thr1658Ala) rs1237184267 0.00003
NM_025114.4(CEP290):c.5010A>C (p.Leu1670Phe) rs1264789609 0.00003
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter) rs772170760 0.00003
NM_025114.4(CEP290):c.5112A>G (p.Leu1704=) rs758459529 0.00003
NM_025114.4(CEP290):c.5145T>G (p.Asn1715Lys) rs568619750 0.00003
NM_025114.4(CEP290):c.514A>C (p.Lys172Gln) rs765944337 0.00003
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter) rs370119681 0.00003
NM_025114.4(CEP290):c.5271A>C (p.Ala1757=) rs368906813 0.00003
NM_025114.4(CEP290):c.5552A>T (p.Lys1851Ile) rs372565248 0.00003
NM_025114.4(CEP290):c.5724A>C (p.Glu1908Asp) rs769370948 0.00003
NM_025114.4(CEP290):c.5753G>T (p.Trp1918Leu) rs371737956 0.00003
NM_025114.4(CEP290):c.5776C>A (p.Arg1926=) rs561598805 0.00003
NM_025114.4(CEP290):c.5855+11A>C rs776215675 0.00003
NM_025114.4(CEP290):c.5896A>G (p.Thr1966Ala) rs780570235 0.00003
NM_025114.4(CEP290):c.6090T>C (p.His2030=) rs1055944923 0.00003
NM_025114.4(CEP290):c.609C>T (p.Asp203=) rs767725492 0.00003
NM_025114.4(CEP290):c.6523-6T>C rs794727692 0.00003
NM_025114.4(CEP290):c.6666A>G (p.Lys2222=) rs544886883 0.00003
NM_025114.4(CEP290):c.6670C>T (p.Arg2224Trp) rs771123241 0.00003
NM_025114.4(CEP290):c.6720A>G (p.Gln2240=) rs751895513 0.00003
NM_025114.4(CEP290):c.6752C>G (p.Ala2251Gly) rs758864226 0.00003
NM_025114.4(CEP290):c.6820A>G (p.Met2274Val) rs1326611388 0.00003
NM_025114.4(CEP290):c.6870T>C (p.Asn2290=) rs572443869 0.00003
NM_025114.4(CEP290):c.7034+10G>A rs1057522783 0.00003
NM_025114.4(CEP290):c.7048C>T (p.Gln2350Ter) rs375548374 0.00003
NM_025114.4(CEP290):c.7070A>G (p.Glu2357Gly) rs759725378 0.00003
NM_025114.4(CEP290):c.7073_7077dup (p.His2360Ter) rs1294402003 0.00003
NM_025114.4(CEP290):c.7079A>C (p.His2360Pro) rs1006780282 0.00003
NM_025114.4(CEP290):c.7126C>T (p.Pro2376Ser) rs754462052 0.00003
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=) rs765709669 0.00003
NM_025114.4(CEP290):c.7397T>A (p.Phe2466Tyr) rs1159836808 0.00003
NM_025114.4(CEP290):c.836A>T (p.Asp279Val) rs547702101 0.00003
NM_025114.4(CEP290):c.853-11_853-10insC rs777770340 0.00003
NM_025114.4(CEP290):c.853-2A>G rs2039902653 0.00003
NM_025114.4(CEP290):c.105G>A (p.Val35=) rs371969282 0.00002
NM_025114.4(CEP290):c.1066-1G>A rs965522059 0.00002
NM_025114.4(CEP290):c.1094A>C (p.Lys365Thr) rs1250515491 0.00002
NM_025114.4(CEP290):c.1113A>G (p.Val371=) rs370095967 0.00002
NM_025114.4(CEP290):c.1122T>C (p.Tyr374=) rs758472041 0.00002
NM_025114.4(CEP290):c.1189+9A>G rs1044392018 0.00002
NM_025114.4(CEP290):c.1192G>T (p.Ala398Ser) rs764079993 0.00002
NM_025114.4(CEP290):c.1235C>T (p.Thr412Met) rs189280108 0.00002
NM_025114.4(CEP290):c.1288G>C (p.Ala430Pro) rs767366207 0.00002
NM_025114.4(CEP290):c.1522+17G>C rs1269048571 0.00002
NM_025114.4(CEP290):c.1623+1G>A rs863225186 0.00002
NM_025114.4(CEP290):c.1712-5T>C rs994843668 0.00002
NM_025114.4(CEP290):c.1756G>A (p.Gly586Arg) rs759047003 0.00002
NM_025114.4(CEP290):c.181-1G>A rs281865190 0.00002
NM_025114.4(CEP290):c.2052+17A>G rs886038691 0.00002
NM_025114.4(CEP290):c.2052+20T>C rs142162258 0.00002
NM_025114.4(CEP290):c.2060A>T (p.Glu687Val) rs932362741 0.00002
NM_025114.4(CEP290):c.2167C>T (p.Arg723Trp) rs372963403 0.00002
NM_025114.4(CEP290):c.2211T>C (p.Asn737=) rs763182158 0.00002
NM_025114.4(CEP290):c.223A>G (p.Lys75Glu) rs779010679 0.00002
NM_025114.4(CEP290):c.2249T>G (p.Leu750Ter) rs137852833 0.00002
NM_025114.4(CEP290):c.2259A>G (p.Ser753=) rs1269755462 0.00002
NM_025114.4(CEP290):c.2273T>C (p.Val758Ala) rs369868981 0.00002
NM_025114.4(CEP290):c.2368-7T>C rs1470044444 0.00002
NM_025114.4(CEP290):c.2373A>C (p.Leu791=) rs760126835 0.00002
NM_025114.4(CEP290):c.2424C>T (p.Tyr808=) rs911134690 0.00002
NM_025114.4(CEP290):c.2597A>G (p.Asn866Ser) rs934685879 0.00002
NM_025114.4(CEP290):c.2818-20G>A rs1463784322 0.00002
NM_025114.4(CEP290):c.2992-18T>C rs930173600 0.00002
NM_025114.4(CEP290):c.3103+1G>A rs1592550848 0.00002
NM_025114.4(CEP290):c.3123dup (p.Lys1042Ter) rs1555212271 0.00002
NM_025114.4(CEP290):c.3238T>G (p.Tyr1080Asp) rs750466529 0.00002
NM_025114.4(CEP290):c.3310-9T>C rs752729387 0.00002
NM_025114.4(CEP290):c.3402T>C (p.Asp1134=) rs976423527 0.00002
NM_025114.4(CEP290):c.3410G>A (p.Arg1137Gln) rs774900495 0.00002
NM_025114.4(CEP290):c.3428A>G (p.Lys1143Arg) rs772550529 0.00002
NM_025114.4(CEP290):c.3429G>A (p.Lys1143=) rs769362204 0.00002
NM_025114.4(CEP290):c.3498T>G (p.Val1166=) rs750099379 0.00002
NM_025114.4(CEP290):c.351T>C (p.Ile117=) rs771707256 0.00002
NM_025114.4(CEP290):c.3643G>A (p.Ala1215Thr) rs1308720371 0.00002
NM_025114.4(CEP290):c.3708dup (p.Arg1237fs) rs758991387 0.00002
NM_025114.4(CEP290):c.3899T>C (p.Ile1300Thr) rs1460182061 0.00002
NM_025114.4(CEP290):c.4030-14A>G rs910563325 0.00002
NM_025114.4(CEP290):c.4107A>G (p.Lys1369=) rs1380584703 0.00002
NM_025114.4(CEP290):c.4123T>C (p.Leu1375=) rs368322148 0.00002
NM_025114.4(CEP290):c.4156A>G (p.Ile1386Val) rs1427374639 0.00002
NM_025114.4(CEP290):c.4267C>T (p.Arg1423Cys) rs1353027764 0.00002
NM_025114.4(CEP290):c.4268G>A (p.Arg1423His) rs774025278 0.00002
NM_025114.4(CEP290):c.4292C>T (p.Ala1431Val) rs564214956 0.00002
NM_025114.4(CEP290):c.4293G>A (p.Ala1431=) rs377614744 0.00002
NM_025114.4(CEP290):c.4314T>G (p.Ala1438=) rs773185972 0.00002
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286 0.00002
NM_025114.4(CEP290):c.4415C>A (p.Ala1472Glu) rs557052114 0.00002
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750 0.00002
NM_025114.4(CEP290):c.4812G>T (p.Trp1604Cys) rs369030385 0.00002
NM_025114.4(CEP290):c.4813-11A>G rs373565486 0.00002
NM_025114.4(CEP290):c.4899A>G (p.Gln1633=) rs1184261298 0.00002
NM_025114.4(CEP290):c.4908T>G (p.Ser1636=) rs755025364 0.00002
NM_025114.4(CEP290):c.4910T>C (p.Leu1637Pro) rs368886655 0.00002
NM_025114.4(CEP290):c.5013-7A>C rs762217156 0.00002
NM_025114.4(CEP290):c.5027A>G (p.His1676Arg) rs375246057 0.00002
NM_025114.4(CEP290):c.5166A>G (p.Thr1722=) rs970862392 0.00002
NM_025114.4(CEP290):c.5167A>G (p.Met1723Val) rs542400806 0.00002
NM_025114.4(CEP290):c.5211G>A (p.Lys1737=) rs747996508 0.00002
NM_025114.4(CEP290):c.5256G>A (p.Arg1752=) rs754590700 0.00002
NM_025114.4(CEP290):c.5285G>A (p.Arg1762His) rs761763799 0.00002
NM_025114.4(CEP290):c.5364+17G>A rs1449083631 0.00002
NM_025114.4(CEP290):c.5367A>T (p.Thr1789=) rs1481891599 0.00002
NM_025114.4(CEP290):c.5371G>C (p.Val1791Leu) rs955877363 0.00002
NM_025114.4(CEP290):c.5379T>C (p.Asp1793=) rs1031513373 0.00002
NM_025114.4(CEP290):c.5413C>T (p.Leu1805Phe) rs1366280320 0.00002
NM_025114.4(CEP290):c.5431A>G (p.Arg1811Gly) rs1460898199 0.00002
NM_025114.4(CEP290):c.549C>T (p.Tyr183=) rs781004914 0.00002
NM_025114.4(CEP290):c.551A>G (p.Gln184Arg) rs374752439 0.00002
NM_025114.4(CEP290):c.5577T>C (p.Ser1859=) rs1481341836 0.00002
NM_025114.4(CEP290):c.5583A>C (p.Leu1861Phe) rs1374659944 0.00002
NM_025114.4(CEP290):c.563A>T (p.Asp188Val) rs746511786 0.00002
NM_025114.4(CEP290):c.5709+10G>A rs1019366465 0.00002
NM_025114.4(CEP290):c.5814T>C (p.Thr1938=) rs752046733 0.00002
NM_025114.4(CEP290):c.6011+8A>G rs1565811656 0.00002
NM_025114.4(CEP290):c.6012-12T>A rs752197734 0.00002
NM_025114.4(CEP290):c.6023C>T (p.Ala2008Val) rs376307540 0.00002
NM_025114.4(CEP290):c.6069A>G (p.Arg2023=) rs772038500 0.00002
NM_025114.4(CEP290):c.6120A>G (p.Thr2040=) rs766265410 0.00002
NM_025114.4(CEP290):c.6135+7G>A rs772383636 0.00002
NM_025114.4(CEP290):c.6218T>C (p.Ile2073Thr) rs2034695558 0.00002
NM_025114.4(CEP290):c.6277del (p.Val2093fs) rs771454167 0.00002
NM_025114.4(CEP290):c.6335G>A (p.Arg2112Gln) rs773459272 0.00002
NM_025114.4(CEP290):c.6398C>A (p.Thr2133Asn) rs775860198 0.00002
NM_025114.4(CEP290):c.6444T>C (p.Asn2148=) rs368101871 0.00002
NM_025114.4(CEP290):c.6522+13_6522+14insC rs2034420276 0.00002
NM_025114.4(CEP290):c.6522+15T>C rs1050903820 0.00002
NM_025114.4(CEP290):c.6522+16G>A rs1049310567 0.00002
NM_025114.4(CEP290):c.6522+6_6522+7insA rs748258476 0.00002
NM_025114.4(CEP290):c.6523-18T>C rs954082831 0.00002
NM_025114.4(CEP290):c.6534A>G (p.Glu2178=) rs759956779 0.00002
NM_025114.4(CEP290):c.6571C>G (p.His2191Asp) rs769798212 0.00002
NM_025114.4(CEP290):c.6624G>C (p.Arg2208Ser) rs777841957 0.00002
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter) rs760540562 0.00002
NM_025114.4(CEP290):c.6805A>G (p.Ile2269Val) rs377711472 0.00002
NM_025114.4(CEP290):c.6818+9A>G rs748162184 0.00002
NM_025114.4(CEP290):c.6859G>A (p.Ala2287Thr) rs1212611161 0.00002
NM_025114.4(CEP290):c.6919G>A (p.Glu2307Lys) rs569543965 0.00002
NM_025114.4(CEP290):c.7083G>T (p.Gln2361His) rs201801456 0.00002
NM_025114.4(CEP290):c.7162C>T (p.Leu2388=) rs1459370644 0.00002
NM_025114.4(CEP290):c.7169C>G (p.Thr2390Arg) rs776216960 0.00002
NM_025114.4(CEP290):c.722A>G (p.Lys241Arg) rs199790246 0.00002
NM_025114.4(CEP290):c.7243A>G (p.Asn2415Asp) rs951324086 0.00002
NM_025114.4(CEP290):c.7282_7283dup (p.Tyr2429fs) rs767231715 0.00002
NM_025114.4(CEP290):c.735G>A (p.Glu245=) rs917730125 0.00002
NM_025114.4(CEP290):c.739G>A (p.Val247Ile) rs1409885182 0.00002
NM_025114.4(CEP290):c.835G>A (p.Asp279Asn) rs796540607 0.00002
NM_025114.4(CEP290):c.943-18T>C rs754330511 0.00002
NM_025114.4(CEP290):c.1002A>G (p.Leu334=) rs757621266 0.00001
NM_025114.4(CEP290):c.101A>T (p.Lys34Met) rs574089816 0.00001
NM_025114.4(CEP290):c.102+13T>C rs773325354 0.00001
NM_025114.4(CEP290):c.102+17T>C rs2040635602 0.00001
NM_025114.4(CEP290):c.102+2T>A rs763226787 0.00001
NM_025114.4(CEP290):c.102+9T>C rs757243626 0.00001
NM_025114.4(CEP290):c.1028T>C (p.Leu343Pro) rs1429640081 0.00001
NM_025114.4(CEP290):c.103-17C>T rs976920583 0.00001
NM_025114.4(CEP290):c.1035T>C (p.Ala345=) rs778053081 0.00001
NM_025114.4(CEP290):c.1042A>T (p.Ser348Cys) rs753281190 0.00001
NM_025114.4(CEP290):c.1044T>C (p.Ser348=) rs1354425821 0.00001
NM_025114.4(CEP290):c.1057C>T (p.Leu353=) rs1036812157 0.00001
NM_025114.4(CEP290):c.1066-17T>C rs761615192 0.00001
NM_025114.4(CEP290):c.1066-20T>A rs1472056992 0.00001
NM_025114.4(CEP290):c.1066-3T>C rs996569804 0.00001
NM_025114.4(CEP290):c.1066-4A>G rs2039668462 0.00001
NM_025114.4(CEP290):c.1072C>T (p.Gln358Ter) rs1592656929 0.00001
NM_025114.4(CEP290):c.1082A>G (p.Asp361Gly) rs2039666544 0.00001
NM_025114.4(CEP290):c.1083C>A (p.Asp361Glu) rs2039666201 0.00001
NM_025114.4(CEP290):c.10A>G (p.Asn4Asp) rs997653455 0.00001
NM_025114.4(CEP290):c.1103C>T (p.Thr368Ile) rs886648506 0.00001
NM_025114.4(CEP290):c.1107A>G (p.Glu369=) rs1202218217 0.00001
NM_025114.4(CEP290):c.1131A>G (p.Glu377=) rs1248968401 0.00001
NM_025114.4(CEP290):c.1140G>A (p.Lys380=) rs2039661519 0.00001
NM_025114.4(CEP290):c.1150A>G (p.Ile384Val) rs375428355 0.00001
NM_025114.4(CEP290):c.1169A>G (p.Asn390Ser) rs891165640 0.00001
NM_025114.4(CEP290):c.1189+10T>G rs1304723301 0.00001
NM_025114.4(CEP290):c.1190-19T>C rs892306905 0.00001
NM_025114.4(CEP290):c.1190-2A>G rs200818935 0.00001
NM_025114.4(CEP290):c.1190-8C>T rs764602507 0.00001
NM_025114.4(CEP290):c.1195T>G (p.Ser399Ala) rs760581741 0.00001
NM_025114.4(CEP290):c.1198A>G (p.Thr400Ala) rs772026871 0.00001
NM_025114.4(CEP290):c.1214C>T (p.Thr405Ile) rs781183605 0.00001
NM_025114.4(CEP290):c.1229A>G (p.Gln410Arg) rs750012169 0.00001
NM_025114.4(CEP290):c.1230G>A (p.Gln410=) rs2137920073 0.00001
NM_025114.4(CEP290):c.1236G>A (p.Thr412=) rs534187846 0.00001
NM_025114.4(CEP290):c.1255A>G (p.Lys419Glu) rs376808205 0.00001
NM_025114.4(CEP290):c.1280C>T (p.Ala427Val) rs2039369004 0.00001
NM_025114.4(CEP290):c.1296T>C (p.Ala432=) rs1478240732 0.00001
NM_025114.4(CEP290):c.1320A>G (p.Glu440=) rs1311391471 0.00001
NM_025114.4(CEP290):c.1334_1339del (p.Leu445_Lys446del) rs1323191320 0.00001
NM_025114.4(CEP290):c.1359+13A>G rs2039362646 0.00001
NM_025114.4(CEP290):c.1359+7A>T rs2039362896 0.00001
NM_025114.4(CEP290):c.136G>A (p.Glu46Lys) rs1018550969 0.00001
NM_025114.4(CEP290):c.13A>T (p.Ile5Leu) rs1046797710 0.00001
NM_025114.4(CEP290):c.1403G>A (p.Cys468Tyr) rs771224749 0.00001
NM_025114.4(CEP290):c.1405A>G (p.Lys469Glu) rs1361189290 0.00001
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter) rs1170451277 0.00001
NM_025114.4(CEP290):c.1430G>A (p.Arg477Gln) rs748917889 0.00001
NM_025114.4(CEP290):c.144G>A (p.Val48=) rs752484237 0.00001
NM_025114.4(CEP290):c.1455A>G (p.Glu485=) rs755893750 0.00001
NM_025114.4(CEP290):c.1460A>G (p.Asn487Ser) rs1331263277 0.00001
NM_025114.4(CEP290):c.1464A>G (p.Lys488=) rs747644093 0.00001
NM_025114.4(CEP290):c.1466T>C (p.Leu489Pro) rs1340148485 0.00001
NM_025114.4(CEP290):c.1471T>A (p.Leu491Met) rs1232443399 0.00001
NM_025114.4(CEP290):c.1474A>T (p.Lys492Ter) rs1278679056 0.00001
NM_025114.4(CEP290):c.1482T>C (p.Ser494=) rs1295495930 0.00001
NM_025114.4(CEP290):c.1484A>G (p.Asp495Gly) rs1228969929 0.00001
NM_025114.4(CEP290):c.1501G>T (p.Glu501Ter) rs780896294 0.00001
NM_025114.4(CEP290):c.1512A>G (p.Arg504=) rs1592639705 0.00001
NM_025114.4(CEP290):c.1517G>A (p.Arg506His) rs866571949 0.00001
NM_025114.4(CEP290):c.1522+14T>G rs1194834988 0.00001
NM_025114.4(CEP290):c.1523-4G>A rs746906765 0.00001
NM_025114.4(CEP290):c.1523-7A>G rs1413722193 0.00001
NM_025114.4(CEP290):c.1536G>T (p.Lys512Asn) rs750163383 0.00001
NM_025114.4(CEP290):c.1549T>C (p.Leu517=) rs752942122 0.00001
NM_025114.4(CEP290):c.1593C>A (p.Tyr531Ter) rs763559949 0.00001
NM_025114.4(CEP290):c.1596A>G (p.Arg532=) rs770310236 0.00001
NM_025114.4(CEP290):c.1600G>A (p.Glu534Lys) rs895126773 0.00001
NM_025114.4(CEP290):c.1611T>C (p.Ile537=) rs1565897528 0.00001
NM_025114.4(CEP290):c.1623+13G>A rs746496743 0.00001
NM_025114.4(CEP290):c.1623+18T>C rs1032285434 0.00001
NM_025114.4(CEP290):c.1623+2C>A rs2039218006 0.00001
NM_025114.4(CEP290):c.1626T>G (p.Ile542Met) rs762272190 0.00001
NM_025114.4(CEP290):c.1644A>G (p.Glu548=) rs763632792 0.00001
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter) rs760415289 0.00001
NM_025114.4(CEP290):c.1646G>A (p.Arg549Gln) rs774824252 0.00001
NM_025114.4(CEP290):c.1665A>T (p.Lys555Asn) rs374824892 0.00001
NM_025114.4(CEP290):c.1677G>C (p.Met559Ile) rs1000099371 0.00001
NM_025114.4(CEP290):c.1680T>C (p.Ala560=) rs777669368 0.00001
NM_025114.4(CEP290):c.1683A>G (p.Gln561=) rs2039202229 0.00001
NM_025114.4(CEP290):c.168G>A (p.Gln56=) rs1382787422 0.00001
NM_025114.4(CEP290):c.1711+1G>A rs587783009 0.00001
NM_025114.4(CEP290):c.1711+6C>T rs1285486059 0.00001
NM_025114.4(CEP290):c.1711+8C>T rs765158159 0.00001
NM_025114.4(CEP290):c.1712-20G>T rs1017064259 0.00001
NM_025114.4(CEP290):c.1712-2A>T rs764551108 0.00001
NM_025114.4(CEP290):c.1712-6A>G rs1452155200 0.00001
NM_025114.4(CEP290):c.1712-8A>G rs757895570 0.00001
NM_025114.4(CEP290):c.1712-9T>C rs1412442444 0.00001
NM_025114.4(CEP290):c.1725G>A (p.Glu575=) rs1278197433 0.00001
NM_025114.4(CEP290):c.174A>T (p.Leu58=) rs1257171303 0.00001
NM_025114.4(CEP290):c.1765A>T (p.Ile589Leu) rs770829686 0.00001
NM_025114.4(CEP290):c.1779A>G (p.Lys593=) rs374292851 0.00001
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter) rs371496675 0.00001
NM_025114.4(CEP290):c.1789T>C (p.Leu597=) rs2039096949 0.00001
NM_025114.4(CEP290):c.180+9G>A rs2040617810 0.00001
NM_025114.4(CEP290):c.181-17C>A rs772605831 0.00001
NM_025114.4(CEP290):c.181-2A>G rs886042359 0.00001
NM_025114.4(CEP290):c.181-9A>G rs745494615 0.00001
NM_025114.4(CEP290):c.1824+14A>G rs368072243 0.00001
NM_025114.4(CEP290):c.1824+15T>C rs999848467 0.00001
NM_025114.4(CEP290):c.1824+16T>G rs769650506 0.00001
NM_025114.4(CEP290):c.1824+17G>A rs2500864818 0.00001
NM_025114.4(CEP290):c.1826A>G (p.Asn609Ser) rs761662102 0.00001
NM_025114.4(CEP290):c.1850T>C (p.Ile617Thr) rs776346956 0.00001
NM_025114.4(CEP290):c.188C>T (p.Ala63Val) rs769705891 0.00001
NM_025114.4(CEP290):c.1910-4A>G rs2038923328 0.00001
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter) rs780225183 0.00001
NM_025114.4(CEP290):c.1952T>C (p.Met651Thr) rs772165172 0.00001
NM_025114.4(CEP290):c.1977G>A (p.Lys659=) rs1313927656 0.00001
NM_025114.4(CEP290):c.1992T>C (p.Asp664=) rs1430141121 0.00001
NM_025114.4(CEP290):c.1992del (p.Pro665fs) rs770175184 0.00001
NM_025114.4(CEP290):c.1999G>A (p.Val667Ile) rs1374826842 0.00001
NM_025114.4(CEP290):c.2016A>G (p.Thr672=) rs886038690 0.00001
NM_025114.4(CEP290):c.201G>A (p.Glu67=) rs2040522940 0.00001
NM_025114.4(CEP290):c.2052+18T>A rs2038913409 0.00001
NM_025114.4(CEP290):c.2052+7T>A rs1341344972 0.00001
NM_025114.4(CEP290):c.2053-16A>G rs2038716437 0.00001
NM_025114.4(CEP290):c.2053-5G>T rs764694042 0.00001
NM_025114.4(CEP290):c.2056A>G (p.Ile686Val) rs1189284598 0.00001
NM_025114.4(CEP290):c.2068A>C (p.Asn690His) rs398124411 0.00001
NM_025114.4(CEP290):c.2073A>G (p.Ala691=) rs766690438 0.00001
NM_025114.4(CEP290):c.2091G>A (p.Ala697=) rs1399023990 0.00001
NM_025114.4(CEP290):c.2113G>A (p.Val705Ile) rs769216455 0.00001
NM_025114.4(CEP290):c.2127C>T (p.Thr709=) rs756894456 0.00001
NM_025114.4(CEP290):c.2131A>G (p.Arg711Gly) rs758037479 0.00001
NM_025114.4(CEP290):c.2132G>C (p.Arg711Thr) rs745530399 0.00001
NM_025114.4(CEP290):c.2168G>A (p.Arg723Gln) rs764117043 0.00001
NM_025114.4(CEP290):c.2180T>C (p.Ile727Thr) rs2137721924 0.00001
NM_025114.4(CEP290):c.2183A>G (p.Asn728Ser) rs752513342 0.00001
NM_025114.4(CEP290):c.2191C>A (p.Gln731Lys) rs767250881 0.00001
NM_025114.4(CEP290):c.2205A>G (p.Lys735=) rs1398701243 0.00001
NM_025114.4(CEP290):c.2216A>T (p.Lys739Met) rs1378036383 0.00001
NM_025114.4(CEP290):c.2217+5G>T rs992339079 0.00001
NM_025114.4(CEP290):c.2218-10T>C rs1433595237 0.00001
NM_025114.4(CEP290):c.2227C>T (p.Leu743Phe) rs751441268 0.00001
NM_025114.4(CEP290):c.2277T>C (p.Val759=) rs1253940761 0.00001
NM_025114.4(CEP290):c.2279T>C (p.Phe760Ser) rs1488946278 0.00001
NM_025114.4(CEP290):c.2317A>T (p.Ser773Cys) rs748976722 0.00001
NM_025114.4(CEP290):c.231A>G (p.Gly77=) rs753852812 0.00001
NM_025114.4(CEP290):c.2320G>C (p.Ala774Pro) rs777365811 0.00001
NM_025114.4(CEP290):c.2329A>G (p.Ile777Val) rs2038667110 0.00001
NM_025114.4(CEP290):c.2343T>C (p.Asn781=) rs748034744 0.00001
NM_025114.4(CEP290):c.2348A>G (p.Tyr783Cys) rs780990839 0.00001
NM_025114.4(CEP290):c.2367+8A>C rs1373970415 0.00001
NM_025114.4(CEP290):c.2368-10C>T rs1483385915 0.00001
NM_025114.4(CEP290):c.2368-16C>A rs2500685967 0.00001
NM_025114.4(CEP290):c.2368-8C>T rs73412695 0.00001
NM_025114.4(CEP290):c.237A>G (p.Glu79=) rs1206035309 0.00001
NM_025114.4(CEP290):c.2408A>G (p.Asp803Gly) rs927571972 0.00001
NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro) rs762633090 0.00001
NM_025114.4(CEP290):c.2423A>G (p.Tyr808Cys) rs773007151 0.00001
NM_025114.4(CEP290):c.2427C>G (p.Asn809Lys) rs368436564 0.00001
NM_025114.4(CEP290):c.2448T>C (p.Arg816=) rs371851348 0.00001
NM_025114.4(CEP290):c.2483+19C>T rs1388463012 0.00001
NM_025114.4(CEP290):c.2483+3_2483+7dup rs1461768571 0.00001
NM_025114.4(CEP290):c.2484-12T>C rs2038343902 0.00001
NM_025114.4(CEP290):c.2484-18G>A rs1360463402 0.00001
NM_025114.4(CEP290):c.249T>C (p.Phe83=) rs1357267883 0.00001
NM_025114.4(CEP290):c.2518A>T (p.Ile840Leu) rs1327835175 0.00001
NM_025114.4(CEP290):c.2533A>C (p.Arg845=) rs371475408 0.00001
NM_025114.4(CEP290):c.2546A>T (p.Asp849Val) rs1313832672 0.00001
NM_025114.4(CEP290):c.2547T>C (p.Asp849=) rs1417219342 0.00001
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile) rs764963626 0.00001
NM_025114.4(CEP290):c.2569A>T (p.Lys857Ter) rs1168542133 0.00001
NM_025114.4(CEP290):c.2574A>G (p.Val858=) rs768235992 0.00001
NM_025114.4(CEP290):c.2586+20C>A rs1340794257 0.00001
NM_025114.4(CEP290):c.2587-19T>C rs755086278 0.00001
NM_025114.4(CEP290):c.2587-20A>G rs2038325985 0.00001
NM_025114.4(CEP290):c.2587-3C>T rs759025964 0.00001
NM_025114.4(CEP290):c.2587-6G>A rs2038323989 0.00001
NM_025114.4(CEP290):c.2587-9T>C rs766982108 0.00001
NM_025114.4(CEP290):c.2605C>T (p.Gln869Ter) rs903257336 0.00001
NM_025114.4(CEP290):c.2608A>C (p.Met870Leu) rs2038321332 0.00001
NM_025114.4(CEP290):c.2623A>G (p.Met875Val) rs2500622391 0.00001
NM_025114.4(CEP290):c.2688T>C (p.Leu896=) rs2038314751 0.00001
NM_025114.4(CEP290):c.2691A>G (p.Ile897Met) rs774079924 0.00001
NM_025114.4(CEP290):c.2712A>G (p.Val904=) rs1371763035 0.00001
NM_025114.4(CEP290):c.2713G>A (p.Glu905Lys) rs747065944 0.00001
NM_025114.4(CEP290):c.2721G>A (p.Glu907=) rs1238362600 0.00001
NM_025114.4(CEP290):c.2750A>C (p.Gln917Pro) rs763778682 0.00001
NM_025114.4(CEP290):c.2756A>G (p.Asn919Ser) rs1489447514 0.00001
NM_025114.4(CEP290):c.2772G>A (p.Met924Ile) rs1000757966 0.00001
NM_025114.4(CEP290):c.2778T>C (p.Ala926=) rs767032720 0.00001
NM_025114.4(CEP290):c.2781A>G (p.Glu927=) rs2137612847 0.00001
NM_025114.4(CEP290):c.2818-14C>A rs762841660 0.00001
NM_025114.4(CEP290):c.2839G>T (p.Ala947Ser) rs967541984 0.00001
NM_025114.4(CEP290):c.2880T>C (p.Ser960=) rs778138631 0.00001
NM_025114.4(CEP290):c.2898T>C (p.Asn966=) rs2137542191 0.00001
NM_025114.4(CEP290):c.2909A>G (p.Asn970Ser) rs951200727 0.00001
NM_025114.4(CEP290):c.291A>G (p.Glu97=) rs757402765 0.00001
NM_025114.4(CEP290):c.2929A>C (p.Arg977=) rs765840717 0.00001
NM_025114.4(CEP290):c.2940G>A (p.Leu980=) rs750343200 0.00001
NM_025114.4(CEP290):c.2951A>T (p.Asn984Ile) rs2037998907 0.00001
NM_025114.4(CEP290):c.297+11T>C rs567497615 0.00001
NM_025114.4(CEP290):c.297+16T>C rs547662093 0.00001
NM_025114.4(CEP290):c.297+1G>T rs878853360 0.00001
NM_025114.4(CEP290):c.2974A>G (p.Asn992Asp) rs1265448566 0.00001
NM_025114.4(CEP290):c.298-11A>G rs748232723 0.00001
NM_025114.4(CEP290):c.2983C>T (p.His995Tyr) rs2137539514 0.00001
NM_025114.4(CEP290):c.2991+11G>A rs1214417467 0.00001
NM_025114.4(CEP290):c.2991+17C>T rs551791639 0.00001
NM_025114.4(CEP290):c.2991+3A>C rs2500522397 0.00001
NM_025114.4(CEP290):c.2991G>A (p.Glu997=) rs2037995979 0.00001
NM_025114.4(CEP290):c.2992-20del rs1565861026 0.00001
NM_025114.4(CEP290):c.2T>A (p.Met1Lys) rs368984997 0.00001
NM_025114.4(CEP290):c.3000C>T (p.Asn1000=) rs551610750 0.00001
NM_025114.4(CEP290):c.3014A>G (p.Glu1005Gly) rs1487962552 0.00001
NM_025114.4(CEP290):c.3016C>G (p.Gln1006Glu) rs1201691161 0.00001
NM_025114.4(CEP290):c.3024G>A (p.Glu1008=) rs1227765663 0.00001
NM_025114.4(CEP290):c.303T>G (p.Ala101=) rs2040376122 0.00001
NM_025114.4(CEP290):c.3060A>G (p.Lys1020=) rs948320708 0.00001
NM_025114.4(CEP290):c.3064C>T (p.His1022Tyr) rs916545578 0.00001
NM_025114.4(CEP290):c.306G>A (p.Gln102=) rs755418283 0.00001
NM_025114.4(CEP290):c.307C>T (p.Gln103Ter) rs752144368 0.00001
NM_025114.4(CEP290):c.3098A>C (p.Lys1033Thr) rs1421960607 0.00001
NM_025114.4(CEP290):c.309G>A (p.Gln103=) rs1340786440 0.00001
NM_025114.4(CEP290):c.3103+17T>C rs1197167750 0.00001
NM_025114.4(CEP290):c.3104-11A>T rs774438697 0.00001
NM_025114.4(CEP290):c.3104-14A>G rs2037245790 0.00001
NM_025114.4(CEP290):c.3104-5T>G rs1302558061 0.00001
NM_025114.4(CEP290):c.3108T>C (p.Asn1036=) rs2037242478 0.00001
NM_025114.4(CEP290):c.3116G>A (p.Ser1039Asn) rs1279900967 0.00001
NM_025114.4(CEP290):c.3124A>G (p.Lys1042Glu) rs1468626083 0.00001
NM_025114.4(CEP290):c.3129A>G (p.Ala1043=) rs2037240316 0.00001
NM_025114.4(CEP290):c.3148A>C (p.Ser1050Arg) rs1240996430 0.00001
NM_025114.4(CEP290):c.3167C>A (p.Ser1056Ter) rs1267970567 0.00001
NM_025114.4(CEP290):c.3176T>A (p.Ile1059Lys) rs928926898 0.00001
NM_025114.4(CEP290):c.3180T>G (p.Thr1060=) rs552585004 0.00001
NM_025114.4(CEP290):c.3185del (p.Leu1062fs) rs863225189 0.00001
NM_025114.4(CEP290):c.3203A>G (p.Asn1068Ser) rs1276779845 0.00001
NM_025114.4(CEP290):c.3215G>A (p.Arg1072Gln) rs1298561837 0.00001
NM_025114.4(CEP290):c.3225T>C (p.His1075=) rs1238044392 0.00001
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter) rs1290241933 0.00001
NM_025114.4(CEP290):c.3234A>G (p.Lys1078=) rs376027433 0.00001
NM_025114.4(CEP290):c.3240T>C (p.Tyr1080=) rs886042467 0.00001
NM_025114.4(CEP290):c.3253A>G (p.Thr1085Ala) rs966339864 0.00001
NM_025114.4(CEP290):c.3257C>T (p.Ser1086Leu) rs760934388 0.00001
NM_025114.4(CEP290):c.3258G>A (p.Ser1086=) rs775973036 0.00001
NM_025114.4(CEP290):c.3277C>T (p.Arg1093Cys) rs778508890 0.00001
NM_025114.4(CEP290):c.328A>G (p.Thr110Ala) rs750018041 0.00001
NM_025114.4(CEP290):c.3309+2T>C rs1007902545 0.00001
NM_025114.4(CEP290):c.3310-10A>G rs1178248633 0.00001
NM_025114.4(CEP290):c.3310-13T>A rs2500238527 0.00001
NM_025114.4(CEP290):c.3310-20T>C rs1446567922 0.00001
NM_025114.4(CEP290):c.3315C>T (p.Thr1105=) rs2500237209 0.00001
NM_025114.4(CEP290):c.331C>T (p.Arg111Trp) rs1051440600 0.00001
NM_025114.4(CEP290):c.3323A>G (p.Asn1108Ser) rs373207132 0.00001
NM_025114.4(CEP290):c.332G>A (p.Arg111Gln) rs562747993 0.00001
NM_025114.4(CEP290):c.3338A>C (p.Lys1113Thr) rs780796789 0.00001
NM_025114.4(CEP290):c.3342G>A (p.Val1114=) rs754811220 0.00001
NM_025114.4(CEP290):c.3352T>G (p.Leu1118Val) rs1323441443 0.00001
NM_025114.4(CEP290):c.3359A>G (p.Asp1120Gly) rs1171335377 0.00001
NM_025114.4(CEP290):c.3378G>A (p.Val1126=) rs546939043 0.00001
NM_025114.4(CEP290):c.3399T>C (p.Ala1133=) rs2037145628 0.00001
NM_025114.4(CEP290):c.3409C>T (p.Arg1137Trp) rs759961956 0.00001
NM_025114.4(CEP290):c.3420A>G (p.Glu1140=) rs762723146 0.00001
NM_025114.4(CEP290):c.3435A>G (p.Glu1145=) rs747972826 0.00001
NM_025114.4(CEP290):c.3449T>C (p.Val1150Ala) rs2037141100 0.00001
NM_025114.4(CEP290):c.3461+16C>T rs1191430138 0.00001
NM_025114.4(CEP290):c.3461+8C>T rs1370236429 0.00001
NM_025114.4(CEP290):c.3512C>G (p.Ala1171Gly) rs1183095802 0.00001
NM_025114.4(CEP290):c.3534G>A (p.Lys1178=) rs756488924 0.00001
NM_025114.4(CEP290):c.3546C>T (p.Ser1182=) rs760639256 0.00001
NM_025114.4(CEP290):c.3550A>C (p.Arg1184=) rs1275942966 0.00001
NM_025114.4(CEP290):c.3553A>G (p.Met1185Val) rs2036969617 0.00001
NM_025114.4(CEP290):c.3557A>G (p.Gln1186Arg) rs920028502 0.00001
NM_025114.4(CEP290):c.3561G>A (p.Leu1187=) rs771857714 0.00001
NM_025114.4(CEP290):c.3562C>T (p.Leu1188=) rs1241950761 0.00001
NM_025114.4(CEP290):c.3573+2T>C rs1219277452 0.00001
NM_025114.4(CEP290):c.3594G>A (p.Ser1198=) rs376645523 0.00001
NM_025114.4(CEP290):c.3617A>G (p.His1206Arg) rs1356145243 0.00001
NM_025114.4(CEP290):c.3621T>C (p.Asn1207=) rs761412978 0.00001
NM_025114.4(CEP290):c.3624C>T (p.Val1208=) rs1331516324 0.00001
NM_025114.4(CEP290):c.3626C>G (p.Ser1209Cys) rs753350609 0.00001
NM_025114.4(CEP290):c.3633A>G (p.Gln1211=) rs747474049 0.00001
NM_025114.4(CEP290):c.3644C>T (p.Ala1215Val) rs1420933299 0.00001
NM_025114.4(CEP290):c.3651T>C (p.Ala1217=) rs772054202 0.00001
NM_025114.4(CEP290):c.3663G>A (p.Leu1221=) rs1268722686 0.00001
NM_025114.4(CEP290):c.366A>G (p.Lys122=) rs774352665 0.00001
NM_025114.4(CEP290):c.3677C>T (p.Ser1226Phe) rs1188505248 0.00001
NM_025114.4(CEP290):c.3682C>G (p.Leu1228Val) rs1282211647 0.00001
NM_025114.4(CEP290):c.3687G>A (p.Gln1229=) rs1345968216 0.00001
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys) rs768864296 0.00001
NM_025114.4(CEP290):c.3717G>A (p.Glu1239=) rs1159465602 0.00001
NM_025114.4(CEP290):c.3722A>G (p.Lys1241Arg) rs892089815 0.00001
NM_025114.4(CEP290):c.3757C>T (p.Arg1253Cys) rs547677441 0.00001
NM_025114.4(CEP290):c.379A>C (p.Lys127Gln) rs781101346 0.00001
NM_025114.4(CEP290):c.3802C>T (p.Gln1268Ter) rs1468942944 0.00001
NM_025114.4(CEP290):c.3810A>G (p.Leu1270=) rs769060806 0.00001
NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter) rs1412133967 0.00001
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter) rs62640581 0.00001
NM_025114.4(CEP290):c.3815G>A (p.Arg1272Gln) rs775753103 0.00001
NM_025114.4(CEP290):c.3826G>A (p.Gly1276Arg) rs267603712 0.00001
NM_025114.4(CEP290):c.3853A>G (p.Lys1285Glu) rs765521933 0.00001
NM_025114.4(CEP290):c.3858C>A (p.Phe1286Leu) rs1353300022 0.00001
NM_025114.4(CEP290):c.3911T>C (p.Met1304Thr) rs761010723 0.00001
NM_025114.4(CEP290):c.3922C>T (p.Gln1308Ter) rs1417251616 0.00001
NM_025114.4(CEP290):c.3925C>T (p.Gln1309Ter) rs2036816455 0.00001
NM_025114.4(CEP290):c.3931C>G (p.His1311Asp) rs772060641 0.00001
NM_025114.4(CEP290):c.393G>A (p.Leu131=) rs780621500 0.00001
NM_025114.4(CEP290):c.3949A>G (p.Lys1317Glu) rs2137270029 0.00001
NM_025114.4(CEP290):c.3954A>G (p.Thr1318=) rs2036813116 0.00001
NM_025114.4(CEP290):c.3960G>A (p.Glu1320=) rs2036812497 0.00001
NM_025114.4(CEP290):c.3967T>C (p.Leu1323=) rs1433273506 0.00001
NM_025114.4(CEP290):c.3976A>G (p.Lys1326Glu) rs377156725 0.00001
NM_025114.4(CEP290):c.3G>A (p.Met1Ile) rs773525033 0.00001
NM_025114.4(CEP290):c.4037A>G (p.Asn1346Ser) rs1470809740 0.00001
NM_025114.4(CEP290):c.4041G>A (p.Trp1347Ter) rs2137251821 0.00001
NM_025114.4(CEP290):c.4044T>C (p.His1348=) rs771298371 0.00001
NM_025114.4(CEP290):c.4045A>G (p.Met1349Val) rs923112337 0.00001
NM_025114.4(CEP290):c.4083A>G (p.Leu1361=) rs528988184 0.00001
NM_025114.4(CEP290):c.4131C>T (p.Asn1377=) rs1217345596 0.00001
NM_025114.4(CEP290):c.4150C>T (p.Arg1384Cys) rs794727563 0.00001
NM_025114.4(CEP290):c.4194+5T>G rs938376883 0.00001
NM_025114.4(CEP290):c.419A>G (p.Lys140Arg) rs750776051 0.00001
NM_025114.4(CEP290):c.4246C>T (p.Arg1416Cys) rs776812442 0.00001
NM_025114.4(CEP290):c.4251A>G (p.Gln1417=) rs775279240 0.00001
NM_025114.4(CEP290):c.4257C>A (p.Asp1419Glu) rs771898047 0.00001
NM_025114.4(CEP290):c.4276A>C (p.Asn1426His) rs2500016487 0.00001
NM_025114.4(CEP290):c.4294G>A (p.Ala1432Thr) rs747949998 0.00001
NM_025114.4(CEP290):c.4302+10A>G rs1318830991 0.00001
NM_025114.4(CEP290):c.4302+5G>A rs1013125589 0.00001
NM_025114.4(CEP290):c.4303-12A>G rs2137214390 0.00001
NM_025114.4(CEP290):c.4303-15A>G rs767235408 0.00001
NM_025114.4(CEP290):c.4303-7T>C rs368961895 0.00001
NM_025114.4(CEP290):c.4320A>T (p.Gly1440=) rs372184970 0.00001
NM_025114.4(CEP290):c.4337G>A (p.Ser1446Asn) rs746106679 0.00001
NM_025114.4(CEP290):c.4338T>C (p.Ser1446=) rs778901888 0.00001
NM_025114.4(CEP290):c.4344C>T (p.Pro1448=) rs2036556391 0.00001
NM_025114.4(CEP290):c.434A>G (p.Asn145Ser) rs1261226265 0.00001
NM_025114.4(CEP290):c.4358T>C (p.Leu1453Pro) rs753059143 0.00001
NM_025114.4(CEP290):c.435T>C (p.Asn145=) rs2040367783 0.00001
NM_025114.4(CEP290):c.4365C>T (p.Ile1455=) rs552731286 0.00001
NM_025114.4(CEP290):c.4368T>G (p.Ala1456=) rs772640114 0.00001
NM_025114.4(CEP290):c.437del (p.Glu146fs) rs1452465499 0.00001
NM_025114.4(CEP290):c.4383G>T (p.Lys1461Asn) rs769732992 0.00001
NM_025114.4(CEP290):c.4391T>C (p.Ile1464Thr) rs761761702 0.00001
NM_025114.4(CEP290):c.4394G>A (p.Arg1465Gln) rs576877716 0.00001
NM_025114.4(CEP290):c.441+14T>G rs765642954 0.00001
NM_025114.4(CEP290):c.442-7A>G rs1252546173 0.00001
NM_025114.4(CEP290):c.4431A>G (p.Leu1477=) rs1435937461 0.00001
NM_025114.4(CEP290):c.4438-18A>G rs761675817 0.00001
NM_025114.4(CEP290):c.4438-7A>G rs764079476 0.00001
NM_025114.4(CEP290):c.4441C>T (p.Leu1481=) rs1220385672 0.00001
NM_025114.4(CEP290):c.4446A>G (p.Lys1482=) rs1424714355 0.00001
NM_025114.4(CEP290):c.4471G>A (p.Ala1491Thr) rs771133112 0.00001
NM_025114.4(CEP290):c.447T>G (p.Ala149=) rs2138114644 0.00001
NM_025114.4(CEP290):c.4485A>G (p.Ile1495Met) rs1328019408 0.00001
NM_025114.4(CEP290):c.4486C>A (p.Leu1496Met) rs1026690396 0.00001
NM_025114.4(CEP290):c.4501G>A (p.Val1501Ile) rs769989974 0.00001
NM_025114.4(CEP290):c.4506C>T (p.Ile1502=) rs1592837830 0.00001
NM_025114.4(CEP290):c.4512A>G (p.Glu1504=) rs1177088224 0.00001
NM_025114.4(CEP290):c.4518G>A (p.Arg1506=) rs748296011 0.00001
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter) rs757641323 0.00001
NM_025114.4(CEP290):c.452G>A (p.Arg151Gln) rs753374614 0.00001
NM_025114.4(CEP290):c.4548A>G (p.Glu1516=) rs2137186609 0.00001
NM_025114.4(CEP290):c.454A>G (p.Asn152Asp) rs2040045927 0.00001
NM_025114.4(CEP290):c.4566A>G (p.Leu1522=) rs763991371 0.00001
NM_025114.4(CEP290):c.4569C>T (p.Gly1523=) rs1322766048 0.00001
NM_025114.4(CEP290):c.4599C>T (p.His1533=) rs932264519 0.00001
NM_025114.4(CEP290):c.4603T>C (p.Leu1535=) rs1242594612 0.00001
NM_025114.4(CEP290):c.4614T>C (p.Ala1538=) rs747484394 0.00001
NM_025114.4(CEP290):c.4628C>T (p.Ala1543Val) rs2036441054 0.00001
NM_025114.4(CEP290):c.4634T>C (p.Met1545Thr) rs1217427527 0.00001
NM_025114.4(CEP290):c.4680A>G (p.Gln1560=) rs2036436821 0.00001
NM_025114.4(CEP290):c.4681C>T (p.Arg1561Cys) rs763605289 0.00001
NM_025114.4(CEP290):c.468A>G (p.Glu156=) rs967600444 0.00001
NM_025114.4(CEP290):c.4693A>G (p.Lys1565Glu) rs767548455 0.00001
NM_025114.4(CEP290):c.4697C>T (p.Ala1566Val) rs751408783 0.00001
NM_025114.4(CEP290):c.4705-17G>A rs779284571 0.00001
NM_025114.4(CEP290):c.4705-1G>T rs777464278 0.00001
NM_025114.4(CEP290):c.4730A>G (p.His1577Arg) rs751352443 0.00001
NM_025114.4(CEP290):c.4734G>A (p.Glu1578=) rs1409082857 0.00001
NM_025114.4(CEP290):c.4758C>T (p.His1586=) rs896218309 0.00001
NM_025114.4(CEP290):c.4788A>G (p.Leu1596=) rs775682517 0.00001
NM_025114.4(CEP290):c.4794A>G (p.Lys1598=) rs760100036 0.00001
NM_025114.4(CEP290):c.4795T>C (p.Phe1599Leu) rs372850927 0.00001
NM_025114.4(CEP290):c.4812+6A>T rs769525877 0.00001
NM_025114.4(CEP290):c.4812+9C>T rs747569970 0.00001
NM_025114.4(CEP290):c.4813-4A>G rs2036324053 0.00001
NM_025114.4(CEP290):c.4813G>T (p.Asp1605Tyr) rs554863859 0.00001
NM_025114.4(CEP290):c.4824A>G (p.Lys1608=) rs1273344761 0.00001
NM_025114.4(CEP290):c.4832C>T (p.Pro1611Leu) rs766917802 0.00001
NM_025114.4(CEP290):c.4839A>G (p.Pro1613=) rs1273165449 0.00001
NM_025114.4(CEP290):c.4854G>T (p.Lys1618Asn) rs747852436 0.00001
NM_025114.4(CEP290):c.4881A>G (p.Glu1627=) rs778794581 0.00001
NM_025114.4(CEP290):c.4887A>T (p.Thr1629=) rs1179886652 0.00001
NM_025114.4(CEP290):c.4893A>C (p.Ala1631=) rs752956198 0.00001
NM_025114.4(CEP290):c.4920C>G (p.Leu1640=) rs1330745435 0.00001
NM_025114.4(CEP290):c.4933A>T (p.Lys1645Ter) rs773390201 0.00001
NM_025114.4(CEP290):c.4936A>C (p.Lys1646Gln) rs1348715646 0.00001
NM_025114.4(CEP290):c.4941A>G (p.Val1647=) rs776334632 0.00001
NM_025114.4(CEP290):c.4948G>T (p.Asp1650Tyr) rs368057362 0.00001
NM_025114.4(CEP290):c.495+17G>T rs181956234 0.00001
NM_025114.4(CEP290):c.495+9T>G rs2138113170 0.00001
NM_025114.4(CEP290):c.496-4G>A rs1263086196 0.00001
NM_025114.4(CEP290):c.496-6C>T rs776649058 0.00001
NM_025114.4(CEP290):c.4997A>G (p.Glu1666Gly) rs566018288 0.00001
NM_025114.4(CEP290):c.4C>T (p.Pro2Ser) rs1064795491 0.00001
NM_025114.4(CEP290):c.5012+2T>C rs1369768287 0.00001
NM_025114.4(CEP290):c.5012+5G>A rs967797801 0.00001
NM_025114.4(CEP290):c.5012+7C>T rs1459836393 0.00001
NM_025114.4(CEP290):c.5013-17A>G rs2036114425 0.00001
NM_025114.4(CEP290):c.5013-19A>G rs750938430 0.00001
NM_025114.4(CEP290):c.5019A>G (p.Gln1673=) rs1259897302 0.00001
NM_025114.4(CEP290):c.5028T>C (p.His1676=) rs775086368 0.00001
NM_025114.4(CEP290):c.5056G>A (p.Glu1686Lys) rs377143954 0.00001
NM_025114.4(CEP290):c.5073G>A (p.Lys1691=) rs768807929 0.00001
NM_025114.4(CEP290):c.50A>C (p.Asp17Ala) rs1182703361 0.00001
NM_025114.4(CEP290):c.5129C>T (p.Ala1710Val) rs754184488 0.00001
NM_025114.4(CEP290):c.5147C>A (p.Ser1716Ter) rs771864158 0.00001
NM_025114.4(CEP290):c.516+15G>A rs1429420384 0.00001
NM_025114.4(CEP290):c.516+1G>A rs779409629 0.00001
NM_025114.4(CEP290):c.516+9T>C rs771222198 0.00001
NM_025114.4(CEP290):c.5163del (p.Thr1722fs) rs1565827171 0.00001
NM_025114.4(CEP290):c.517-17T>C rs760912729 0.00001
NM_025114.4(CEP290):c.517-6C>T rs550300326 0.00001
NM_025114.4(CEP290):c.5181A>T (p.Val1727=) rs1002651698 0.00001
NM_025114.4(CEP290):c.5218C>G (p.Gln1740Glu) rs936648881 0.00001
NM_025114.4(CEP290):c.521A>T (p.Glu174Val) rs774484028 0.00001
NM_025114.4(CEP290):c.5250A>G (p.Glu1750=) rs1359087341 0.00001
NM_025114.4(CEP290):c.5259A>C (p.Ala1753=) rs747328752 0.00001
NM_025114.4(CEP290):c.5283A>G (p.Glu1761=) rs749975524 0.00001
NM_025114.4(CEP290):c.5337C>T (p.Ile1779=) rs1367796637 0.00001
NM_025114.4(CEP290):c.533A>G (p.Gln178Arg) rs773591434 0.00001
NM_025114.4(CEP290):c.5341G>A (p.Asp1781Asn) rs773445041 0.00001
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter) rs575767207 0.00001
NM_025114.4(CEP290):c.5345G>A (p.Arg1782Gln) rs1044256302 0.00001
NM_025114.4(CEP290):c.5364+3G>A rs747450920 0.00001
NM_025114.4(CEP290):c.5385T>C (p.Asn1795=) rs1452561924 0.00001
NM_025114.4(CEP290):c.5423G>A (p.Ser1808Asn) rs763278328 0.00001
NM_025114.4(CEP290):c.5442A>G (p.Ser1814=) rs1161234355 0.00001
NM_025114.4(CEP290):c.5449G>T (p.Asp1817Tyr) rs1565822715 0.00001
NM_025114.4(CEP290):c.5459A>G (p.Asn1820Ser) rs776980750 0.00001
NM_025114.4(CEP290):c.5480A>C (p.Gln1827Pro) rs771657596 0.00001
NM_025114.4(CEP290):c.5508A>T (p.Ile1836=) rs1565822532 0.00001
NM_025114.4(CEP290):c.5523G>A (p.Glu1841=) rs753424189 0.00001
NM_025114.4(CEP290):c.5526A>G (p.Glu1842=) rs777528087 0.00001
NM_025114.4(CEP290):c.5527A>G (p.Ile1843Val) rs756097381 0.00001
NM_025114.4(CEP290):c.5535A>G (p.Gln1845=) rs2035887534 0.00001
NM_025114.4(CEP290):c.5541T>C (p.Asn1847=) rs931780353 0.00001
NM_025114.4(CEP290):c.5543A>G (p.Asp1848Gly) rs563967678 0.00001
NM_025114.4(CEP290):c.5574C>T (p.Thr1858=) rs775652694 0.00001
NM_025114.4(CEP290):c.5586+9A>G rs746293904 0.00001
NM_025114.4(CEP290):c.5587-1G>C rs968692633 0.00001
NM_025114.4(CEP290):c.5589C>A (p.Gly1863=) rs1391226067 0.00001
NM_025114.4(CEP290):c.5605A>C (p.Asn1869His) rs748110593 0.00001
NM_025114.4(CEP290):c.5607T>C (p.Asn1869=) rs777353443 0.00001
NM_025114.4(CEP290):c.560T>C (p.Ile187Thr) rs1452019494 0.00001
NM_025114.4(CEP290):c.5619A>G (p.Leu1873=) rs2035852547 0.00001
NM_025114.4(CEP290):c.5621T>C (p.Ile1874Thr) rs781335780 0.00001
NM_025114.4(CEP290):c.5640A>G (p.Lys1880=) rs1225010541 0.00001
NM_025114.4(CEP290):c.5658C>T (p.Asn1886=) rs1368307580 0.00001
NM_025114.4(CEP290):c.5665G>C (p.Glu1889Gln) rs186330724 0.00001
NM_025114.4(CEP290):c.5670A>C (p.Gly1890=) rs545964640 0.00001
NM_025114.4(CEP290):c.567A>G (p.Ser189=) rs2039990725 0.00001
NM_025114.4(CEP290):c.5682A>G (p.Glu1894=) rs1460806176 0.00001
NM_025114.4(CEP290):c.5688C>T (p.Asp1896=) rs1166115017 0.00001
NM_025114.4(CEP290):c.5707A>G (p.Lys1903Glu) rs878855334 0.00001
NM_025114.4(CEP290):c.5709+5G>A rs2035845308 0.00001
NM_025114.4(CEP290):c.5710-13G>A rs1272493019 0.00001
NM_025114.4(CEP290):c.5710-14C>T rs766723760 0.00001
NM_025114.4(CEP290):c.5710-18C>G rs751852207 0.00001
NM_025114.4(CEP290):c.5710-9T>C rs2035409144 0.00001
NM_025114.4(CEP290):c.5745dup (p.Lys1916Ter) rs751361090 0.00001
NM_025114.4(CEP290):c.5751G>A (p.Lys1917=) rs1384070051 0.00001
NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu) rs746949236 0.00001
NM_025114.4(CEP290):c.57C>G (p.Pro19=) rs746614039 0.00001
NM_025114.4(CEP290):c.5808C>T (p.Val1936=) rs905571067 0.00001
NM_025114.4(CEP290):c.5825A>G (p.Gln1942Arg) rs750783436 0.00001
NM_025114.4(CEP290):c.5856-14A>G rs1308812317 0.00001
NM_025114.4(CEP290):c.5859C>T (p.Ala1953=) rs727503852 0.00001
NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys) rs562477272 0.00001
NM_025114.4(CEP290):c.5892A>G (p.Leu1964=) rs2136957684 0.00001
NM_025114.4(CEP290):c.5919G>A (p.Gln1973=) rs1231554118 0.00001
NM_025114.4(CEP290):c.5921T>C (p.Val1974Ala) rs1354836663 0.00001
NM_025114.4(CEP290):c.5932C>T (p.Arg1978Ter) rs371525247 0.00001
NM_025114.4(CEP290):c.5933G>A (p.Arg1978Gln) rs774881412 0.00001
NM_025114.4(CEP290):c.5941G>T (p.Glu1981Ter) rs767426153 0.00001
NM_025114.4(CEP290):c.597G>A (p.Gly199=) rs757015598 0.00001
NM_025114.4(CEP290):c.5986T>G (p.Leu1996Val) rs1460342479 0.00001
NM_025114.4(CEP290):c.6003G>A (p.Leu2001=) rs2035355059 0.00001
NM_025114.4(CEP290):c.6012-2A>G rs555755221 0.00001
NM_025114.4(CEP290):c.6027T>C (p.Leu2009=) rs766355219 0.00001
NM_025114.4(CEP290):c.6031C>T (p.Arg2011Ter) rs750073051 0.00001
NM_025114.4(CEP290):c.6032G>A (p.Arg2011Gln) rs773022969 0.00001
NM_025114.4(CEP290):c.6037T>G (p.Ser2013Ala) rs2136913105 0.00001
NM_025114.4(CEP290):c.6065A>G (p.Asn2022Ser) rs1283291449 0.00001
NM_025114.4(CEP290):c.6067A>G (p.Arg2023Gly) rs764861728 0.00001
NM_025114.4(CEP290):c.6070T>C (p.Tyr2024His) rs745998591 0.00001
NM_025114.4(CEP290):c.6072C>T (p.Tyr2024=) rs779262951 0.00001
NM_025114.4(CEP290):c.6098A>G (p.Glu2033Gly) rs756608200 0.00001
NM_025114.4(CEP290):c.6132T>G (p.Pro2044=) rs765002773 0.00001
NM_025114.4(CEP290):c.6135+8T>A rs759481991 0.00001
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter) rs137852835 0.00001
NM_025114.4(CEP290):c.614G>A (p.Arg205Gln) rs547665147 0.00001
NM_025114.4(CEP290):c.6150G>A (p.Glu2050=) rs1175295227 0.00001
NM_025114.4(CEP290):c.6162T>C (p.His2054=) rs867670449 0.00001
NM_025114.4(CEP290):c.6200A>G (p.Lys2067Arg) rs765197228 0.00001
NM_025114.4(CEP290):c.6207A>G (p.Ser2069=) rs1327169453 0.00001
NM_025114.4(CEP290):c.621G>A (p.Gln207=) rs2501499076 0.00001
NM_025114.4(CEP290):c.6225G>C (p.Leu2075=) rs2034695327 0.00001
NM_025114.4(CEP290):c.6234G>A (p.Gln2078=) rs916982542 0.00001
NM_025114.4(CEP290):c.6235C>A (p.Leu2079Ile) rs753687613 0.00001
NM_025114.4(CEP290):c.6256T>C (p.Leu2086=) rs374183249 0.00001
NM_025114.4(CEP290):c.6270+19A>G rs1181927624 0.00001
NM_025114.4(CEP290):c.6271-8T>C rs1039146791 0.00001
NM_025114.4(CEP290):c.6299G>A (p.Cys2100Tyr) rs1274778299 0.00001
NM_025114.4(CEP290):c.6327A>G (p.Glu2109=) rs184095604 0.00001
NM_025114.4(CEP290):c.6346C>T (p.His2116Tyr) rs2034573032 0.00001
NM_025114.4(CEP290):c.634A>T (p.Asn212Tyr) rs527704077 0.00001
NM_025114.4(CEP290):c.6353G>C (p.Arg2118Thr) rs1208196086 0.00001
NM_025114.4(CEP290):c.6357+3A>G rs777062671 0.00001
NM_025114.4(CEP290):c.6357+9_6357+14del rs1295355611 0.00001
NM_025114.4(CEP290):c.6358-14A>G rs1226870274 0.00001
NM_025114.4(CEP290):c.6358-1G>A rs766670248 0.00001
NM_025114.4(CEP290):c.6358-6T>C rs1280309350 0.00001
NM_025114.4(CEP290):c.6369T>G (p.Ser2123Arg) rs750473077 0.00001
NM_025114.4(CEP290):c.6371G>A (p.Gly2124Glu) rs752851135 0.00001
NM_025114.4(CEP290):c.6375G>A (p.Lys2125=) rs1408298921 0.00001
NM_025114.4(CEP290):c.6381C>T (p.Ile2127=) rs761864807 0.00001
NM_025114.4(CEP290):c.6426A>G (p.Glu2142=) rs1303402400 0.00001
NM_025114.4(CEP290):c.6460G>A (p.Ala2154Thr) rs1319955144 0.00001
NM_025114.4(CEP290):c.6461C>A (p.Ala2154Glu) rs759220460 0.00001
NM_025114.4(CEP290):c.6468A>G (p.Gly2156=) rs1255749762 0.00001
NM_025114.4(CEP290):c.6522+13A>T rs1592743605 0.00001
NM_025114.4(CEP290):c.6523-12T>G rs761172645 0.00001
NM_025114.4(CEP290):c.6523-14T>C rs375105314 0.00001
NM_025114.4(CEP290):c.6525T>C (p.Ala2175=) rs2034343634 0.00001
NM_025114.4(CEP290):c.6541A>G (p.Lys2181Glu) rs1301427015 0.00001
NM_025114.4(CEP290):c.6547C>T (p.His2183Tyr) rs535765861 0.00001
NM_025114.4(CEP290):c.6555G>A (p.Gly2185=) rs1282398701 0.00001
NM_025114.4(CEP290):c.6575A>G (p.Tyr2192Cys) rs1222842886 0.00001
NM_025114.4(CEP290):c.6580T>A (p.Ser2194Thr) rs768539400 0.00001
NM_025114.4(CEP290):c.6599A>G (p.Glu2200Gly) rs779145328 0.00001
NM_025114.4(CEP290):c.6642A>G (p.Lys2214=) rs1409872235 0.00001
NM_025114.4(CEP290):c.6645+6A>T rs765992358 0.00001
NM_025114.4(CEP290):c.6645+7C>T rs762527255 0.00001
NM_025114.4(CEP290):c.6646-4A>G rs1395035284 0.00001
NM_025114.4(CEP290):c.6648A>G (p.Glu2216=) rs1048414150 0.00001
NM_025114.4(CEP290):c.6661G>T (p.Glu2221Ter) rs2034243912 0.00001
NM_025114.4(CEP290):c.6671G>A (p.Arg2224Gln) rs1214939378 0.00001
NM_025114.4(CEP290):c.667C>G (p.Gln223Glu) rs2138093804 0.00001
NM_025114.4(CEP290):c.669+15A>G rs1165909730 0.00001
NM_025114.4(CEP290):c.669+20A>G rs373119842 0.00001
NM_025114.4(CEP290):c.669+8G>T rs768408897 0.00001
NM_025114.4(CEP290):c.6697T>C (p.Leu2233=) rs755447230 0.00001
NM_025114.4(CEP290):c.6703G>T (p.Glu2235Ter) rs1375836634 0.00001
NM_025114.4(CEP290):c.6756A>G (p.Glu2252=) rs750070359 0.00001
NM_025114.4(CEP290):c.6769C>T (p.Gln2257Ter) rs2136704614 0.00001
NM_025114.4(CEP290):c.6776A>C (p.Glu2259Ala) rs2499528847 0.00001
NM_025114.4(CEP290):c.6778G>C (p.Gly2260Arg) rs371397659 0.00001
NM_025114.4(CEP290):c.6791A>G (p.Lys2264Arg) rs535571590 0.00001
NM_025114.4(CEP290):c.6807T>G (p.Ile2269Met) rs1355908667 0.00001
NM_025114.4(CEP290):c.6818+20C>T rs781266350 0.00001
NM_025114.4(CEP290):c.6818+5G>A rs935214183 0.00001
NM_025114.4(CEP290):c.6819-10A>G rs150241790 0.00001
NM_025114.4(CEP290):c.6819-5T>A rs1343925602 0.00001
NM_025114.4(CEP290):c.6819-7C>T rs1161025933 0.00001
NM_025114.4(CEP290):c.6823T>G (p.Tyr2275Asp) rs973231335 0.00001
NM_025114.4(CEP290):c.6882T>C (p.Thr2294=) rs759290213 0.00001
NM_025114.4(CEP290):c.6922C>A (p.Gln2308Lys) rs1159666069 0.00001
NM_025114.4(CEP290):c.6933C>G (p.Asn2311Lys) rs762012958 0.00001
NM_025114.4(CEP290):c.6941A>G (p.Asn2314Ser) rs148173636 0.00001
NM_025114.4(CEP290):c.6948C>T (p.Asp2316=) rs768771609 0.00001
NM_025114.4(CEP290):c.6961-10G>A rs952777472 0.00001
NM_025114.4(CEP290):c.6961-12T>C rs762776921 0.00001
NM_025114.4(CEP290):c.6961-6T>C rs768947002 0.00001
NM_025114.4(CEP290):c.6978T>C (p.His2326=) rs775641877 0.00001
NM_025114.4(CEP290):c.6993T>A (p.Ala2331=) rs2136636592 0.00001
NM_025114.4(CEP290):c.7004A>G (p.Gln2335Arg) rs1424407266 0.00001
NM_025114.4(CEP290):c.7020G>A (p.Glu2340=) rs749716804 0.00001
NM_025114.4(CEP290):c.7027del (p.Val2343fs) rs2033827549 0.00001
NM_025114.4(CEP290):c.7035-11T>C rs764153212 0.00001
NM_025114.4(CEP290):c.7035-19C>T rs1010286620 0.00001
NM_025114.4(CEP290):c.7035A>G (p.Arg2345=) rs760964107 0.00001
NM_025114.4(CEP290):c.7036T>C (p.Leu2346=) rs1325530095 0.00001
NM_025114.4(CEP290):c.7055A>T (p.Asp2352Val) rs2033762979 0.00001
NM_025114.4(CEP290):c.7082A>G (p.Gln2361Arg) rs766016762 0.00001
NM_025114.4(CEP290):c.7104A>G (p.Gln2368=) rs1176691356 0.00001
NM_025114.4(CEP290):c.7124T>C (p.Ile2375Thr) rs540340404 0.00001
NM_025114.4(CEP290):c.7129+13A>T rs1238598063 0.00001
NM_025114.4(CEP290):c.7130-16A>G rs1430895394 0.00001
NM_025114.4(CEP290):c.7131T>C (p.Asp2377=) rs759638203 0.00001
NM_025114.4(CEP290):c.7134T>C (p.Ala2378=) rs2033385986 0.00001
NM_025114.4(CEP290):c.7153A>G (p.Ile2385Val) rs191581359 0.00001
NM_025114.4(CEP290):c.7155A>G (p.Ile2385Met) rs770168358 0.00001
NM_025114.4(CEP290):c.7161T>C (p.Asp2387=) rs1419407850 0.00001
NM_025114.4(CEP290):c.7174C>T (p.Leu2392Phe) rs1344978851 0.00001
NM_025114.4(CEP290):c.7197G>A (p.Lys2399=) rs779550219 0.00001
NM_025114.4(CEP290):c.7210-16A>G rs762987255 0.00001
NM_025114.4(CEP290):c.7210-5A>T rs2033257006 0.00001
NM_025114.4(CEP290):c.7213G>A (p.Glu2405Lys) rs1393659962 0.00001
NM_025114.4(CEP290):c.7222A>C (p.Lys2408Gln) rs750921465 0.00001
NM_025114.4(CEP290):c.7240G>A (p.Glu2414Lys) rs1233939358 0.00001
NM_025114.4(CEP290):c.726T>A (p.Asn242Lys) rs949161264 0.00001
NM_025114.4(CEP290):c.726T>C (p.Asn242=) rs949161264 0.00001
NM_025114.4(CEP290):c.7287T>A (p.Tyr2429Ter) rs775189201 0.00001
NM_025114.4(CEP290):c.7293C>T (p.Tyr2431=) rs1397480003 0.00001
NM_025114.4(CEP290):c.729A>G (p.Leu243=) rs1349591192 0.00001
NM_025114.4(CEP290):c.7311G>T (p.Lys2437Asn) rs534440681 0.00001
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter) rs1374014119 0.00001
NM_025114.4(CEP290):c.7333G>A (p.Val2445Ile) rs756042946 0.00001
NM_025114.4(CEP290):c.7335A>C (p.Val2445=) rs565729847 0.00001
NM_025114.4(CEP290):c.7341A>G (p.Lys2447=) rs1415533078 0.00001
NM_025114.4(CEP290):c.7372A>G (p.Ser2458Gly) rs762238709 0.00001
NM_025114.4(CEP290):c.7375C>T (p.Pro2459Ser) rs754398792 0.00001
NM_025114.4(CEP290):c.7411G>A (p.Glu2471Lys) rs1406377321 0.00001
NM_025114.4(CEP290):c.7416T>A (p.Ser2472Arg) rs794727762 0.00001
NM_025114.4(CEP290):c.7422T>C (p.Val2474=) rs1161343186 0.00001
NM_025114.4(CEP290):c.7430C>G (p.Pro2477Arg) rs2033224468 0.00001
NM_025114.4(CEP290):c.753G>T (p.Glu251Asp) rs2039957080 0.00001
NM_025114.4(CEP290):c.772A>C (p.Asn258His) rs979378806 0.00001
NM_025114.4(CEP290):c.784G>A (p.Ala262Thr) rs1331352301 0.00001
NM_025114.4(CEP290):c.787A>G (p.Ile263Val) rs1477583890 0.00001
NM_025114.4(CEP290):c.78T>C (p.Asp26=) rs2040639110 0.00001
NM_025114.4(CEP290):c.792G>A (p.Val264=) rs1217903059 0.00001
NM_025114.4(CEP290):c.79A>G (p.Asn27Asp) rs753760503 0.00001
NM_025114.4(CEP290):c.838C>T (p.His280Tyr) rs575493480 0.00001
NM_025114.4(CEP290):c.852+17G>A rs2039948768 0.00001
NM_025114.4(CEP290):c.853-11T>G rs112227200 0.00001
NM_025114.4(CEP290):c.869A>G (p.Asp290Gly) rs958209779 0.00001
NM_025114.4(CEP290):c.890A>T (p.Glu297Val) rs765404668 0.00001
NM_025114.4(CEP290):c.942+14A>G rs188187579 0.00001
NM_025114.4(CEP290):c.942+20A>G rs1409061084 0.00001
NM_025114.4(CEP290):c.964G>A (p.Asp322Asn) rs536127246 0.00001
NM_025114.4(CEP290):c.978G>A (p.Glu326=) rs935755196 0.00001
NM_025114.4(CEP290):c.996T>C (p.His332=) rs746022535 0.00001
NC_000012.11:g.(?_88209612)_(88484553_?)del
NC_000012.11:g.(?_88209614)_(88484553_?)del
NC_000012.11:g.(?_88442955)_(88449500_?)dup
NC_000012.11:g.(?_88442961)_(88449494_?)dup
NC_000012.11:g.(?_88442961)_(88452817_?)del
NC_000012.11:g.(?_88447419)_(88448200_?)del
NC_000012.11:g.(?_88447419)_(88448200_?)dup
NC_000012.11:g.(?_88452605)_(88454791_?)dup
NC_000012.11:g.(?_88452605)_(88494960_?)del
NC_000012.11:g.(?_88452605)_(88525015_?)del
NC_000012.11:g.(?_88452615)_(88453807_?)del
NC_000012.11:g.(?_88465051)_(88465723_?)del
NC_000012.11:g.(?_88465051)_(88496808_?)del
NC_000012.11:g.(?_88465051)_(88508979_?)dup
NC_000012.11:g.(?_88470989)_(88473016_?)del
NC_000012.11:g.(?_88471559)_(88471893_?)del
NC_000012.11:g.(?_88472849)_(88535092_?)del
NC_000012.11:g.(?_88479796)_(88514963_?)del
NC_000012.11:g.(?_88481537)_(88523673_?)del
NC_000012.11:g.(?_88484485)_(88487772_?)del
NC_000012.11:g.(?_88494960)_(88512540_?)dup
NC_000012.11:g.(?_88502823)_(88525015_?)del
NC_000012.11:g.(?_88510800)_(88510932_?)del
NC_000012.11:g.(?_88512250)_(88519156_?)del
NC_000012.11:g.(?_88517531)_(88519028_?)del
NC_000012.11:g.(?_88532902)_(88533361_?)del
NC_000012.12:g.(?_87983103)_(88507137_?)del
NM_025114.3(CEP290):c.4438-318_7243del
NM_025114.3(CEP290):c.6819-?_*171+?dup
NM_025114.4(CEP290):c.-8_2del (p.Met1fs) rs2040644607
NM_025114.4(CEP290):c.1000C>T (p.Leu334=) rs2138022943
NM_025114.4(CEP290):c.1002A>T (p.Leu334=) rs757621266
NM_025114.4(CEP290):c.1004G>A (p.Arg335Lys) rs2039729147
NM_025114.4(CEP290):c.1005G>A (p.Arg335=) rs1043933772
NM_025114.4(CEP290):c.1006dup (p.Glu336fs) rs2501333823
NM_025114.4(CEP290):c.1008G>A (p.Glu336=) rs2501333572
NM_025114.4(CEP290):c.100A>C (p.Lys34Gln) rs2040637392
NM_025114.4(CEP290):c.102+2T>G rs763226787
NM_025114.4(CEP290):c.102+7A>T rs2501861847
NM_025114.4(CEP290):c.102+8A>T rs2138303509
NM_025114.4(CEP290):c.1020T>C (p.Asn340=) rs2039728474
NM_025114.4(CEP290):c.1024C>T (p.Gln342Ter)
NM_025114.4(CEP290):c.1025A>G (p.Gln342Arg) rs2138022289
NM_025114.4(CEP290):c.1026G>A (p.Gln342=) rs2501331622
NM_025114.4(CEP290):c.103-20T>C rs1029795688
NM_025114.4(CEP290):c.103-4T>G rs2501854059
NM_025114.4(CEP290):c.103-5C>T rs2138299257
NM_025114.4(CEP290):c.1031A>G (p.Asp344Gly)
NM_025114.4(CEP290):c.1035T>A (p.Ala345=) rs778053081
NM_025114.4(CEP290):c.1039A>T (p.Lys347Ter) rs1411950710
NM_025114.4(CEP290):c.1052T>C (p.Met351Thr) rs1415965131
NM_025114.4(CEP290):c.1054G>T (p.Ala352Ser) rs1206964618
NM_025114.4(CEP290):c.1059A>G (p.Leu353=) rs2138021415
NM_025114.4(CEP290):c.1060C>T (p.Gln354Ter) rs2138021345
NM_025114.4(CEP290):c.1065+11A>G rs766007691
NM_025114.4(CEP290):c.1065+12_1065+14del rs2039725287
NM_025114.4(CEP290):c.1065+15_1065+16del rs2501327459
NM_025114.4(CEP290):c.1065+1G>A rs2138021203
NM_025114.4(CEP290):c.1065+1G>C rs2138021203
NM_025114.4(CEP290):c.1065+9T>G rs2501328143
NM_025114.4(CEP290):c.1066-10T>C rs2501281357
NM_025114.4(CEP290):c.1066-5T>C rs2501281051
NM_025114.4(CEP290):c.1066-8T>A rs181962590
NM_025114.4(CEP290):c.1067G>A (p.Gly356Asp) rs1403887401
NM_025114.4(CEP290):c.1068T>A (p.Gly356=) rs1173989518
NM_025114.4(CEP290):c.1068T>C (p.Gly356=)
NM_025114.4(CEP290):c.1069A>C (p.Ile357Leu) rs2138003595
NM_025114.4(CEP290):c.1069A>G (p.Ile357Val) rs2138003595
NM_025114.4(CEP290):c.106G>T (p.Glu36Ter) rs868347260
NM_025114.4(CEP290):c.1078C>A (p.Arg360=) rs776645403
NM_025114.4(CEP290):c.1092T>C (p.Ile364=) rs201988582
NM_025114.4(CEP290):c.1095G>A (p.Lys365=) rs2138002953
NM_025114.4(CEP290):c.1096del (p.Met366fs) rs2501278271
NM_025114.4(CEP290):c.1108C>G (p.Gln370Glu) rs2039663676
NM_025114.4(CEP290):c.1111G>A (p.Val371Ile) rs2138002338
NM_025114.4(CEP290):c.1117C>A (p.Gln373Lys) rs2501275835
NM_025114.4(CEP290):c.1128A>G (p.Lys376=) rs2138001930
NM_025114.4(CEP290):c.1142A>G (p.Asn381Ser) rs1295338042
NM_025114.4(CEP290):c.1158A>G (p.Glu386=) rs2039660413
NM_025114.4(CEP290):c.1163T>A (p.Leu388Ter) rs2501272074
NM_025114.4(CEP290):c.1165A>T (p.Lys389Ter) rs2138000998
NM_025114.4(CEP290):c.1166A>T (p.Lys389Ile) rs2138000943
NM_025114.4(CEP290):c.1172A>G (p.Glu391Gly) rs2501270995
NM_025114.4(CEP290):c.1179A>G (p.Gln393=) rs2138000643
NM_025114.4(CEP290):c.1182A>G (p.Arg394=) rs2138000548
NM_025114.4(CEP290):c.1185C>T (p.Asn395=)
NM_025114.4(CEP290):c.1189+13A>G rs2039658519
NM_025114.4(CEP290):c.1189+15A>G rs2501268577
NM_025114.4(CEP290):c.1189+19A>G rs948770167
NM_025114.4(CEP290):c.1189+19_1189+21del rs2501267914
NM_025114.4(CEP290):c.1189+1G>A rs2039659434
NM_025114.4(CEP290):c.1189+20G>A rs1420714707
NM_025114.4(CEP290):c.1189+20_1189+23del rs1460774098
NM_025114.4(CEP290):c.1189+2T>C rs2501269442
NM_025114.4(CEP290):c.1190-10T>C rs750104849
NM_025114.4(CEP290):c.1190-15G>T rs757757271
NM_025114.4(CEP290):c.1190-4G>C rs2039375104
NM_025114.4(CEP290):c.1190-6C>G rs373668917
NM_025114.4(CEP290):c.1190-6C>T rs373668917
NM_025114.4(CEP290):c.1190-8C>G rs764602507
NM_025114.4(CEP290):c.1190-8_1190-7delinsTC rs2137921603
NM_025114.4(CEP290):c.1197A>C (p.Ser399=) rs2501101695
NM_025114.4(CEP290):c.1199C>T (p.Thr400Ile) rs773578133
NM_025114.4(CEP290):c.1205C>G (p.Ser402Cys) rs2137920983
NM_025114.4(CEP290):c.1209A>G (p.Gln403=) rs748251474
NM_025114.4(CEP290):c.120A>G (p.Leu40=) rs2138298973
NM_025114.4(CEP290):c.1217_1218delinsTC (p.His406Leu) rs2137920625
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs) rs386834148
NM_025114.4(CEP290):c.1225del (p.Ile409fs) rs1287628446
NM_025114.4(CEP290):c.1232C>G (p.Ser411Ter) rs2501098066
NM_025114.4(CEP290):c.1236G>T (p.Thr412=) rs534187846
NM_025114.4(CEP290):c.1240G>A (p.Asp414Asn) rs2501097205
NM_025114.4(CEP290):c.1242C>T (p.Asp414=)
NM_025114.4(CEP290):c.1247T>G (p.Leu416Ter) rs1269182131
NM_025114.4(CEP290):c.1248A>G (p.Leu416=) rs1490932099
NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs) rs897997464
NM_025114.4(CEP290):c.1258dup (p.Thr420fs) rs868650061
NM_025114.4(CEP290):c.1263A>G (p.Lys421=) rs2501094821
NM_025114.4(CEP290):c.1266G>A (p.Glu422=) rs372196608
NM_025114.4(CEP290):c.1268C>A (p.Ala423Asp) rs2501094071
NM_025114.4(CEP290):c.1273del (p.Arg425fs) rs2501093691
NM_025114.4(CEP290):c.1281T>C (p.Ala427=) rs2137918647
NM_025114.4(CEP290):c.1284A>G (p.Glu428=) rs2501092402
NM_025114.4(CEP290):c.1293G>A (p.Glu431=) rs1367715172
NM_025114.4(CEP290):c.1296_1299dup (p.Ala434Ter) rs2501090110
NM_025114.4(CEP290):c.1297G>A (p.Asp433Asn) rs2501090442
NM_025114.4(CEP290):c.12T>C (p.Asn4=) rs748657371
NM_025114.4(CEP290):c.1305G>A (p.Arg435=) rs2501089378
NM_025114.4(CEP290):c.1307A>G (p.Glu436Gly) rs2039366661
NM_025114.4(CEP290):c.1313A>G (p.Asp438Gly) rs2137917175
NM_025114.4(CEP290):c.1318G>T (p.Glu440Ter) rs2137917114
NM_025114.4(CEP290):c.1325T>A (p.Val442Asp) rs1238835456
NM_025114.4(CEP290):c.1338del (p.Arg447fs) rs2039364798
NM_025114.4(CEP290):c.133del (p.Gln45fs) rs2501852178
NM_025114.4(CEP290):c.1347dup (p.Asp450fs) rs774490795
NM_025114.4(CEP290):c.1350T>C (p.Asp450=) rs780550670
NM_025114.4(CEP290):c.1353T>C (p.Tyr451=) rs2137916151
NM_025114.4(CEP290):c.1358C>T (p.Ser453Leu) rs772635605
NM_025114.4(CEP290):c.1359+15C>G rs2039362450
NM_025114.4(CEP290):c.1359+15C>T rs2039362450
NM_025114.4(CEP290):c.1359+16T>C rs2039362251
NM_025114.4(CEP290):c.1359+18G>T rs2501083550
NM_025114.4(CEP290):c.1359+19T>C rs2501083414
NM_025114.4(CEP290):c.1359+1G>A rs935130451
NM_025114.4(CEP290):c.1359+20C>A rs2501083261
NM_025114.4(CEP290):c.1359+20C>T rs2501083261
NM_025114.4(CEP290):c.1359+2dup rs2501084400
NM_025114.4(CEP290):c.135A>C (p.Gln45His) rs2138298764
NM_025114.4(CEP290):c.135A>G (p.Gln45=) rs2138298764
NM_025114.4(CEP290):c.1360-11A>G rs1190370620
NM_025114.4(CEP290):c.1360-14T>G rs2137905530
NM_025114.4(CEP290):c.1360-1G>C rs2501054131
NM_025114.4(CEP290):c.1360-4T>C rs200328638
NM_025114.4(CEP290):c.1360-7T>C rs2501054481
NM_025114.4(CEP290):c.1360-9A>C rs2137905309
NM_025114.4(CEP290):c.1360-9del rs1332584083
NM_025114.4(CEP290):c.1362A>G (p.Gly454=) rs2501053854
NM_025114.4(CEP290):c.1365A>G (p.Val455=) rs2501053477
NM_025114.4(CEP290):c.1371T>C (p.Gly457=) rs1048761169
NM_025114.4(CEP290):c.1380T>C (p.Asp460=) rs2501052231
NM_025114.4(CEP290):c.1386C>A (p.Val462=) rs886038689
NM_025114.4(CEP290):c.1386C>G (p.Val462=)
NM_025114.4(CEP290):c.1389T>A (p.Val463=) rs746403117
NM_025114.4(CEP290):c.1390G>C (p.Glu464Gln) rs1437841365
NM_025114.4(CEP290):c.1390G>T (p.Glu464Ter) rs1437841365
NM_025114.4(CEP290):c.1392A>G (p.Glu464=) rs1459082332
NM_025114.4(CEP290):c.1393del (p.Glu464_Ile465insTer) rs2039321844
NM_025114.4(CEP290):c.1400del (p.Asn467fs) rs2137903965
NM_025114.4(CEP290):c.1405A>T (p.Lys469Ter) rs1361189290
NM_025114.4(CEP290):c.1419A>G (p.Lys473=) rs2137903473
NM_025114.4(CEP290):c.1419_1423del (p.Ile474fs) rs771266705
NM_025114.4(CEP290):c.141T>C (p.Asn47=) rs1267471683
NM_025114.4(CEP290):c.1429C>A (p.Arg477=) rs1170451277
NM_025114.4(CEP290):c.1434G>A (p.Glu478=) rs1423902630
NM_025114.4(CEP290):c.1435_1436del (p.Glu478_Ile479insTer) rs1366385653
NM_025114.4(CEP290):c.1436T>C (p.Ile479Thr) rs371088254
NM_025114.4(CEP290):c.143_144dup (p.Ile49Ter)
NM_025114.4(CEP290):c.1451del (p.Lys484fs) rs386834149
NM_025114.4(CEP290):c.147A>G (p.Ile49Met) rs2501850748
NM_025114.4(CEP290):c.1480del (p.Ser494fs) rs2501040632
NM_025114.4(CEP290):c.148C>T (p.His50Tyr) rs878853363
NM_025114.4(CEP290):c.1493A>T (p.Asp498Val) rs2039315374
NM_025114.4(CEP290):c.149A>G (p.His50Arg) rs2138298302
NM_025114.4(CEP290):c.1504G>A (p.Ala502Thr) rs1035966537
NM_025114.4(CEP290):c.1508T>G (p.Leu503Arg) rs761301690
NM_025114.4(CEP290):c.1512_1515del (p.Arg504fs) rs886043303
NM_025114.4(CEP290):c.1514_1515del (p.Glu505fs) rs886043303
NM_025114.4(CEP290):c.1515G>A (p.Glu505=) rs370057064
NM_025114.4(CEP290):c.1518dup (p.Val507fs) rs2501035387
NM_025114.4(CEP290):c.151C>T (p.Leu51Phe) rs1264332374
NM_025114.4(CEP290):c.1522+11T>C rs1180955717
NM_025114.4(CEP290):c.1522+15A>C rs2501033693
NM_025114.4(CEP290):c.1522+20A>T rs2501032984
NM_025114.4(CEP290):c.1522+8A>G rs1410927153
NM_025114.4(CEP290):c.1522+9T>C rs982222564
NM_025114.4(CEP290):c.1523-10del rs2039228878
NM_025114.4(CEP290):c.1523-11T>G rs747839947
NM_025114.4(CEP290):c.1523-13C>T rs2500963270
NM_025114.4(CEP290):c.1523-14G>A rs2500963428
NM_025114.4(CEP290):c.1523-15del rs2137876506
NM_025114.4(CEP290):c.1523-19A>G rs1348017820
NM_025114.4(CEP290):c.1523-1G>T rs1192112844
NM_025114.4(CEP290):c.1523G>A (p.Gly508Asp) rs2039227577
NM_025114.4(CEP290):c.1524C>T (p.Gly508=) rs2039227328
NM_025114.4(CEP290):c.1527T>G (p.Leu509=) rs2500961117
NM_025114.4(CEP290):c.1550dup (p.Leu517fs) rs62640579
NM_025114.4(CEP290):c.1564A>C (p.Asn522His) rs2500958196
NM_025114.4(CEP290):c.1565A>G (p.Asn522Ser) rs751732097
NM_025114.4(CEP290):c.1584G>A (p.Gln528=) rs1191893065
NM_025114.4(CEP290):c.1585C>T (p.Gln529Ter) rs1325063481
NM_025114.4(CEP290):c.1589A>G (p.Gln530Arg) rs1390141039
NM_025114.4(CEP290):c.1590G>C (p.Gln530His) rs766779533
NM_025114.4(CEP290):c.1593C>T (p.Tyr531=) rs763559949
NM_025114.4(CEP290):c.1596A>C (p.Arg532Ser) rs770310236
NM_025114.4(CEP290):c.1597G>T (p.Ala533Ser) rs761507465
NM_025114.4(CEP290):c.1599T>G (p.Ala533=) rs2137874116
NM_025114.4(CEP290):c.1601A>C (p.Glu534Ala)
NM_025114.4(CEP290):c.1602A>G (p.Glu534=) rs2500955173
NM_025114.4(CEP290):c.1605C>T (p.Asn535=) rs2500954761
NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter) rs1465414886
NM_025114.4(CEP290):c.1611T>A (p.Ile537=) rs1565897528
NM_025114.4(CEP290):c.1615T>G (p.Leu539Val) rs2137873551
NM_025114.4(CEP290):c.1616del (p.Leu538_Leu539insTer) rs1346690922
NM_025114.4(CEP290):c.1623+10G>T rs377529198
NM_025114.4(CEP290):c.1623+10_1623+11dup rs1442448272
NM_025114.4(CEP290):c.1623+7G>T rs2137873070
NM_025114.4(CEP290):c.1624-10T>C rs2137871528
NM_025114.4(CEP290):c.1624-12T>G rs2500948069
NM_025114.4(CEP290):c.1624-13T>C rs2500948284
NM_025114.4(CEP290):c.1624-13T>G rs2500948284
NM_025114.4(CEP290):c.1624-14T>G rs2500948429
NM_025114.4(CEP290):c.1624-18A>C rs2500948942
NM_025114.4(CEP290):c.1624-5T>G rs142742071
NM_025114.4(CEP290):c.1625T>C (p.Ile542Thr) rs1180698614
NM_025114.4(CEP290):c.1626T>A (p.Ile542=) rs762272190
NM_025114.4(CEP290):c.1627G>T (p.Glu543Ter) rs1186821575
NM_025114.4(CEP290):c.1635A>G (p.Leu545=) rs1446495640
NM_025114.4(CEP290):c.1636G>C (p.Glu546Gln) rs373498346
NM_025114.4(CEP290):c.1638G>A (p.Glu546=) rs2500945615
NM_025114.4(CEP290):c.1644A>C (p.Glu548Asp) rs763632792
NM_025114.4(CEP290):c.1646G>T (p.Arg549Leu) rs774824252
NM_025114.4(CEP290):c.1648C>T (p.Leu550Phe) rs2039207431
NM_025114.4(CEP290):c.164_167del (p.Thr55fs) rs758550675
NM_025114.4(CEP290):c.1650T>A (p.Leu550=) rs1393047320
NM_025114.4(CEP290):c.1654C>A (p.Leu552Met) rs1446939096
NM_025114.4(CEP290):c.165T>A (p.Thr55=) rs2138297919
NM_025114.4(CEP290):c.165T>C (p.Thr55=) rs2138297919
NM_025114.4(CEP290):c.1665_1666del (p.Lys555fs) rs727503855
NM_025114.4(CEP290):c.1666del (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.1666dup (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.1668T>A (p.Ile556=) rs1458242843
NM_025114.4(CEP290):c.1668del (p.Arg557fs) rs2039204524
NM_025114.4(CEP290):c.166C>T (p.Gln56Ter) rs1592706963
NM_025114.4(CEP290):c.1672C>G (p.Gln558Glu) rs2500940744
NM_025114.4(CEP290):c.1675del (p.Met559fs) rs2137868361
NM_025114.4(CEP290):c.167dup (p.Ser57fs) rs2138297703
NM_025114.4(CEP290):c.1681C>T (p.Gln561Ter) rs1475139450
NM_025114.4(CEP290):c.1709C>G (p.Ser570Ter) rs1272411609
NM_025114.4(CEP290):c.1710A>C (p.Ser570=) rs2137866803
NM_025114.4(CEP290):c.1711+13A>T rs2500934865
NM_025114.4(CEP290):c.1711+18A>G rs2137866354
NM_025114.4(CEP290):c.1711+2T>A rs2500935910
NM_025114.4(CEP290):c.1711+7T>C rs2500935313
NM_025114.4(CEP290):c.1711+9A>G rs1354489737
NM_025114.4(CEP290):c.1712-17A>T
NM_025114.4(CEP290):c.1712-4A>G rs1207619750
NM_025114.4(CEP290):c.1712-7T>C rs1211882783
NM_025114.4(CEP290):c.1712-9TA[5] rs2137838962
NM_025114.4(CEP290):c.171A>G (p.Ser57=) rs2138297496
NM_025114.4(CEP290):c.1721C>G (p.Thr574Ser) rs1187828326
NM_025114.4(CEP290):c.1737A>T (p.Leu579=) rs1173906301
NM_025114.4(CEP290):c.1741G>A (p.Glu581Lys) rs2039101381
NM_025114.4(CEP290):c.1746C>T (p.Asn582=) rs1317137881
NM_025114.4(CEP290):c.174A>G (p.Leu58=) rs1257171303
NM_025114.4(CEP290):c.1750del (p.Ser584fs) rs780954447
NM_025114.4(CEP290):c.1753C>T (p.Gln585Ter) rs867094910
NM_025114.4(CEP290):c.1757G>A (p.Gly586Glu) rs2039099676
NM_025114.4(CEP290):c.1758A>G (p.Gly586=) rs773912796
NM_025114.4(CEP290):c.1761T>C (p.Asp587=) rs2500868391
NM_025114.4(CEP290):c.1767A>G (p.Ile589Met) rs2500868132
NM_025114.4(CEP290):c.1769G>C (p.Ser590Thr) rs1191606002
NM_025114.4(CEP290):c.1781T>C (p.Leu594Ser) rs371496675
NM_025114.4(CEP290):c.1782G>T (p.Leu594Phe) rs1283118657
NM_025114.4(CEP290):c.1788A>G (p.Leu596=) rs1223585284
NM_025114.4(CEP290):c.1790T>A (p.Leu597Ter) rs2500867184
NM_025114.4(CEP290):c.1790_1805del (p.Leu596_Leu597insTer) rs2500866434
NM_025114.4(CEP290):c.1791G>A (p.Leu597=) rs1346086093
NM_025114.4(CEP290):c.1797C>A (p.Leu599=) rs2137836275
NM_025114.4(CEP290):c.1797C>G (p.Leu599=) rs2137836275
NM_025114.4(CEP290):c.1798A>T (p.Lys600Ter) rs2137836218
NM_025114.4(CEP290):c.180+10_180+11dup rs2501848539
NM_025114.4(CEP290):c.180+11A>G rs2138296866
NM_025114.4(CEP290):c.180+12G>T rs2501848377
NM_025114.4(CEP290):c.180+13T>C rs1400876926
NM_025114.4(CEP290):c.180+14A>T rs2501848226
NM_025114.4(CEP290):c.180+15G>T rs2040617128
NM_025114.4(CEP290):c.180+18T>G rs765316729
NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025114.4(CEP290):c.180+8T>C rs750648438
NM_025114.4(CEP290):c.1801A>G (p.Asn601Asp) rs2500866652
NM_025114.4(CEP290):c.1802del (p.Asn601fs) rs2500866580
NM_025114.4(CEP290):c.1805del (p.Met602fs) rs2500866381
NM_025114.4(CEP290):c.180G>A (p.Lys60=) rs2501849042
NM_025114.4(CEP290):c.181-10T>A rs2501805733
NM_025114.4(CEP290):c.181-10del rs1302625844
NM_025114.4(CEP290):c.181-10dup rs1302625844
NM_025114.4(CEP290):c.181-17C>G rs772605831
NM_025114.4(CEP290):c.181-18C>T rs1341545657
NM_025114.4(CEP290):c.181-4T>A rs773899264
NM_025114.4(CEP290):c.181-6G>A rs975947396
NM_025114.4(CEP290):c.181-6G>T
NM_025114.4(CEP290):c.181-7T>C rs2138267601
NM_025114.4(CEP290):c.1816C>T (p.Gln606Ter) rs2500865968
NM_025114.4(CEP290):c.1818del (p.Gln606fs)
NM_025114.4(CEP290):c.1820C>A (p.Ser607Ter)
NM_025114.4(CEP290):c.1824+12G>A rs2500865125
NM_025114.4(CEP290):c.1824+15dup rs746448124
NM_025114.4(CEP290):c.1824+18C>A rs1592628893
NM_025114.4(CEP290):c.1824+7G>A rs1171490250
NM_025114.4(CEP290):c.1824+7G>C rs1171490250
NM_025114.4(CEP290):c.1824+9A>G rs2137835565
NM_025114.4(CEP290):c.1825-11G>C rs2038963936
NM_025114.4(CEP290):c.1825-16T>C rs2500829858
NM_025114.4(CEP290):c.1825-17C>A rs1271533024
NM_025114.4(CEP290):c.1825-17C>T rs1271533024
NM_025114.4(CEP290):c.1825-17CT[2] rs367600498
NM_025114.4(CEP290):c.1825-19T>G rs1010835042
NM_025114.4(CEP290):c.1827T>C (p.Asn609=) rs2500829341
NM_025114.4(CEP290):c.1830A>G (p.Glu610=) rs2038962868
NM_025114.4(CEP290):c.1830del (p.Glu610fs) rs992032116
NM_025114.4(CEP290):c.1839A>T (p.Ser613=) rs2500829166
NM_025114.4(CEP290):c.1844_1845dup (p.Leu616fs) rs2500829029
NM_025114.4(CEP290):c.1851T>C (p.Ile617=) rs1391587607
NM_025114.4(CEP290):c.1854A>G (p.Glu618=) rs1457478471
NM_025114.4(CEP290):c.1858G>T (p.Glu620Ter) rs1203763812
NM_025114.4(CEP290):c.1860_1861del (p.Asp622fs) rs386834151
NM_025114.4(CEP290):c.1860_1863del (p.Arg621fs) rs766608755
NM_025114.4(CEP290):c.1862G>C (p.Arg621Thr) rs2038960989
NM_025114.4(CEP290):c.1863A>G (p.Arg621=) rs2500828298
NM_025114.4(CEP290):c.1864_1865del (p.Asp622fs) rs1033594764
NM_025114.4(CEP290):c.1875G>A (p.Arg625=) rs2137795302
NM_025114.4(CEP290):c.1878T>C (p.Ser626=) rs2500827732
NM_025114.4(CEP290):c.1884A>C (p.Thr628=) rs2500827535
NM_025114.4(CEP290):c.1884A>G (p.Thr628=) rs2500827535
NM_025114.4(CEP290):c.1899T>C (p.Phe633=) rs1449699158
NM_025114.4(CEP290):c.1908A>G (p.Lys636=) rs199747962
NM_025114.4(CEP290):c.1909+14A>T rs1368658745
NM_025114.4(CEP290):c.1909+17T>C rs754581115
NM_025114.4(CEP290):c.1909+9C>G rs2038957507
NM_025114.4(CEP290):c.190C>T (p.Gln64Ter) rs1166981120
NM_025114.4(CEP290):c.1910-10_1910-9del rs773520477
NM_025114.4(CEP290):c.1910-1G>A rs2500817276
NM_025114.4(CEP290):c.1910-27_1910-19del rs1485440549
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter) rs1555220625
NM_025114.4(CEP290):c.191AAG[1] (p.Glu65del) rs1312256490
NM_025114.4(CEP290):c.1921G>C (p.Val641Leu) rs886049883
NM_025114.4(CEP290):c.1926A>T (p.Glu642Asp) rs2500816563
NM_025114.4(CEP290):c.1935G>A (p.Lys645=) rs2500816321
NM_025114.4(CEP290):c.1944A>G (p.Glu648=) rs2500816131
NM_025114.4(CEP290):c.1953G>A (p.Met651Ile) rs1402439930
NM_025114.4(CEP290):c.1963T>C (p.Leu655=) rs2137782192
NM_025114.4(CEP290):c.1965G>A (p.Leu655=) rs2137782106
NM_025114.4(CEP290):c.1968A>G (p.Gln656=) rs2038920205
NM_025114.4(CEP290):c.1970C>A (p.Ala657Glu) rs2038920051
NM_025114.4(CEP290):c.1972A>G (p.Ile658Val) rs2038919900
NM_025114.4(CEP290):c.1982T>G (p.Met661Arg) rs2137781691
NM_025114.4(CEP290):c.1986G>A (p.Gln662=) rs2500815056
NM_025114.4(CEP290):c.1987A>G (p.Lys663Glu) rs2038919221
NM_025114.4(CEP290):c.1987A>T (p.Lys663Ter) rs2038919221
NM_025114.4(CEP290):c.1989A>G (p.Lys663=)
NM_025114.4(CEP290):c.1989dup (p.Asp664fs) rs2500814936
NM_025114.4(CEP290):c.1998T>C (p.Asp666=) rs376320828
NM_025114.4(CEP290):c.1A>G (p.Met1Val) rs2040644756
NM_025114.4(CEP290):c.2033G>T (p.Ser678Ile) rs2038915965
NM_025114.4(CEP290):c.2041_2052+23del rs2137779120
NM_025114.4(CEP290):c.2043A>G (p.Arg681=) rs2500813395
NM_025114.4(CEP290):c.2047_2050del (p.Val683fs) rs2500813302
NM_025114.4(CEP290):c.2052+14T>C rs2137779486
NM_025114.4(CEP290):c.2052+15T>C rs2500812634
NM_025114.4(CEP290):c.2052+15dup rs1249161159
NM_025114.4(CEP290):c.2052+1G>A rs2038915208
NM_025114.4(CEP290):c.2052+1_2052+2del rs747835249
NM_025114.4(CEP290):c.2052+4A>T rs2500813056
NM_025114.4(CEP290):c.2052+8A>G rs1380951133
NM_025114.4(CEP290):c.2052+9T>C rs2500812806
NM_025114.4(CEP290):c.2053-11A>C rs2137726477
NM_025114.4(CEP290):c.2053-14T>C rs2137726582
NM_025114.4(CEP290):c.2053-14_2053-10del rs1190266955
NM_025114.4(CEP290):c.2053-17T>C rs2500769762
NM_025114.4(CEP290):c.2053-20A>C rs749925872
NM_025114.4(CEP290):c.2053-20A>G rs749925872
NM_025114.4(CEP290):c.2053-4C>G rs757170207
NM_025114.4(CEP290):c.2053G>A (p.Ala685Thr) rs2038714969
NM_025114.4(CEP290):c.2058A>G (p.Ile686Met) rs1439546880
NM_025114.4(CEP290):c.2064A>C (p.Ser688=) rs2137725550
NM_025114.4(CEP290):c.2064A>G (p.Ser688=) rs2137725550
NM_025114.4(CEP290):c.2067G>A (p.Lys689=) rs1425613490
NM_025114.4(CEP290):c.2070T>C (p.Asn690=) rs1173678598
NM_025114.4(CEP290):c.2073A>C (p.Ala691=) rs766690438
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly) rs200454865
NM_025114.4(CEP290):c.2090C>T (p.Ala697Val) rs200454865
NM_025114.4(CEP290):c.2092A>C (p.Ser698Arg) rs2500766446
NM_025114.4(CEP290):c.2095C>T (p.Leu699=) rs748627817
NM_025114.4(CEP290):c.2097G>T (p.Leu699=) rs2500766039
NM_025114.4(CEP290):c.2099A>G (p.His700Arg) rs2500765891
NM_025114.4(CEP290):c.20G>A (p.Trp7Ter)
NM_025114.4(CEP290):c.2112del (p.Val705fs) rs863225183
NM_025114.4(CEP290):c.2115T>G (p.Val705=)
NM_025114.4(CEP290):c.2119_2123dup (p.Thr709fs) rs62640580
NM_025114.4(CEP290):c.2127C>G (p.Thr709=) rs756894456
NM_025114.4(CEP290):c.2140G>T (p.Glu714Ter) rs1440259390
NM_025114.4(CEP290):c.2144T>G (p.Leu715Ter) rs1231122388
NM_025114.4(CEP290):c.2149C>T (p.Gln717Ter) rs2500763272
NM_025114.4(CEP290):c.214G>T (p.Glu72Ter) rs1292246271
NM_025114.4(CEP290):c.2156T>A (p.Leu719His)
NM_025114.4(CEP290):c.2163A>G (p.Glu721=) rs2137722314
NM_025114.4(CEP290):c.216A>T (p.Glu72Asp) rs750607382
NM_025114.4(CEP290):c.2173G>A (p.Glu725Lys) rs2500761755
NM_025114.4(CEP290):c.2177C>T (p.Ala726Val) rs1592608053
NM_025114.4(CEP290):c.2179A>G (p.Ile727Val) rs1278326023
NM_025114.4(CEP290):c.2186A>T (p.Tyr729Phe) rs1372332421
NM_025114.4(CEP290):c.2187T>C (p.Tyr729=)
NM_025114.4(CEP290):c.2191C>T (p.Gln731Ter) rs767250881
NM_025114.4(CEP290):c.2194C>T (p.Gln732Ter) rs1438792443
NM_025114.4(CEP290):c.2197T>C (p.Leu733=) rs2500760460
NM_025114.4(CEP290):c.2199G>A (p.Leu733=) rs2137721385
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys) rs62635288
NM_025114.4(CEP290):c.2202A>G (p.Ala734=) rs2137721256
NM_025114.4(CEP290):c.2213del (p.Asn737_Leu738insTer) rs2137720951
NM_025114.4(CEP290):c.2217+17A>G rs2137720557
NM_025114.4(CEP290):c.2217+19A>G rs2038701600
NM_025114.4(CEP290):c.2217+1G>T rs2500759351
NM_025114.4(CEP290):c.2217+2T>C rs2038702746
NM_025114.4(CEP290):c.2217+3G>A rs765291878
NM_025114.4(CEP290):c.2217+3G>C rs765291878
NM_025114.4(CEP290):c.2217+7A>G rs2500759015
NM_025114.4(CEP290):c.2218-13T>A rs780987235
NM_025114.4(CEP290):c.2218-13dup rs143621850
NM_025114.4(CEP290):c.2218-15G>A rs993016017
NM_025114.4(CEP290):c.2218-16G>A rs2500747406
NM_025114.4(CEP290):c.2218-4C>T rs2137713156
NM_025114.4(CEP290):c.2218-5del rs143621850
NM_025114.4(CEP290):c.2218-6T>C rs1372868530
NM_025114.4(CEP290):c.2218A>T (p.Ile740Leu) rs754736974
NM_025114.4(CEP290):c.2233A>G (p.Lys745Glu) rs1193394531
NM_025114.4(CEP290):c.2235A>G (p.Lys745=) rs2500745766
NM_025114.4(CEP290):c.2245C>T (p.Leu749Phe) rs2038674474
NM_025114.4(CEP290):c.2247T>C (p.Leu749=) rs762072403
NM_025114.4(CEP290):c.2250A>G (p.Leu750=) rs1273866774
NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter) rs753884599
NM_025114.4(CEP290):c.2252G>A (p.Arg751Gln) rs1360220092
NM_025114.4(CEP290):c.2254C>T (p.Gln752Ter) rs2137711696
NM_025114.4(CEP290):c.2258C>A (p.Ser753Ter) rs2500744133
NM_025114.4(CEP290):c.225A>G (p.Lys75=) rs2040521242
NM_025114.4(CEP290):c.2267_2268inv (p.Ser756Leu)
NM_025114.4(CEP290):c.2268A>T (p.Ser756=) rs2468255
NM_025114.4(CEP290):c.2268_2284del (p.Asn757_Val758insTer) rs2500742395
NM_025114.4(CEP290):c.226_227insA (p.Ala76fs)
NM_025114.4(CEP290):c.2276T>G (p.Val759Gly) rs2038671061
NM_025114.4(CEP290):c.2286A>G (p.Gly762=) rs1171982729
NM_025114.4(CEP290):c.228T>C (p.Ala76=) rs2040520776
NM_025114.4(CEP290):c.2293T>C (p.Leu765=) rs2500741720
NM_025114.4(CEP290):c.2296C>A (p.Pro766Thr) rs2500741529
NM_025114.4(CEP290):c.2301T>C (p.Asp767=) rs2038668978
NM_025114.4(CEP290):c.2304G>C (p.Gly768=) rs2500740754
NM_025114.4(CEP290):c.2315C>A (p.Ser772Tyr) rs2137709342
NM_025114.4(CEP290):c.2321C>G (p.Ala774Gly) rs1475759325
NM_025114.4(CEP290):c.2322C>T (p.Ala774=) rs2500739689
NM_025114.4(CEP290):c.2328C>T (p.Ile776=) rs2137708829
NM_025114.4(CEP290):c.2332_2334del (p.Asn778del) rs2038666741
NM_025114.4(CEP290):c.2337T>G (p.Ser779=) rs2500738837
NM_025114.4(CEP290):c.2340_2341del (p.Gln780_Asn781insTer) rs1382701532
NM_025114.4(CEP290):c.2361G>A (p.Leu787=) rs1337194775
NM_025114.4(CEP290):c.2365C>A (p.Gln789Lys) rs2137707386
NM_025114.4(CEP290):c.2367+10A>G rs2500736496
NM_025114.4(CEP290):c.2367+20A>C
NM_025114.4(CEP290):c.2367+2T>C rs2137707354
NM_025114.4(CEP290):c.2367+8A>G rs1373970415
NM_025114.4(CEP290):c.2367+9A>C rs751292446
NM_025114.4(CEP290):c.2368-10del rs2137665854
NM_025114.4(CEP290):c.2368-19T>C rs2137665948
NM_025114.4(CEP290):c.2368-1G>T rs2137665576
NM_025114.4(CEP290):c.2368-4T>A rs2137665617
NM_025114.4(CEP290):c.2368-5_2368-4del rs2500685517
NM_025114.4(CEP290):c.2371C>T (p.Leu791=) rs2137665532
NM_025114.4(CEP290):c.2373A>G (p.Leu791=) rs760126835
NM_025114.4(CEP290):c.2379_2381del (p.Asn793del) rs2038499476
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_025114.4(CEP290):c.2400T>C (p.Asn800=) rs2038497441
NM_025114.4(CEP290):c.2406del (p.Asp803fs) rs2500683218
NM_025114.4(CEP290):c.2418A>G (p.Glu806=) rs2137663910
NM_025114.4(CEP290):c.2428A>C (p.Arg810=) rs2137663513
NM_025114.4(CEP290):c.2433del (p.Lys811fs) rs2137663442
NM_025114.4(CEP290):c.2435T>A (p.Phe812Tyr) rs2038494496
NM_025114.4(CEP290):c.243A>T (p.Ala81=) rs2501800937
NM_025114.4(CEP290):c.2440G>T (p.Val814Leu) rs955251811
NM_025114.4(CEP290):c.2447G>C (p.Arg816Pro) rs768448895
NM_025114.4(CEP290):c.2447G>T (p.Arg816Leu) rs768448895
NM_025114.4(CEP290):c.2450A>G (p.His817Arg) rs1251392498
NM_025114.4(CEP290):c.2451T>A (p.His817Gln) rs2038492778
NM_025114.4(CEP290):c.2455C>A (p.Gln819Lys) rs2137662565
NM_025114.4(CEP290):c.2455C>T (p.Gln819Ter) rs2137662565
NM_025114.4(CEP290):c.2459G>A (p.Ser820Asn) rs2500680211
NM_025114.4(CEP290):c.2466G>A (p.Leu822=) rs2137662331
NM_025114.4(CEP290):c.2468A>G (p.Tyr823Cys) rs2137662247
NM_025114.4(CEP290):c.246A>C (p.Lys82Asn) rs761233532
NM_025114.4(CEP290):c.246A>G (p.Lys82=) rs761233532
NM_025114.4(CEP290):c.2478C>T (p.Tyr826=) rs758193337
NM_025114.4(CEP290):c.2482A>T (p.Ser828Cys) rs2038490984
NM_025114.4(CEP290):c.2483+10T>G rs1327914633
NM_025114.4(CEP290):c.2483+13G>A rs2500678779
NM_025114.4(CEP290):c.2483+15A>G rs2500678723
NM_025114.4(CEP290):c.2483+1G>A rs2137661795
NM_025114.4(CEP290):c.2483+5A>G rs2137661741
NM_025114.4(CEP290):c.2483+7G>T rs886038692
NM_025114.4(CEP290):c.2484-13G>T
NM_025114.4(CEP290):c.2484-18G>T
NM_025114.4(CEP290):c.2484-18GTTTT[2] rs745522483
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.2484-18GTTTT[5] rs745522483
NM_025114.4(CEP290):c.2484-18del
NM_025114.4(CEP290):c.2484-2A>C rs1555217024
NM_025114.4(CEP290):c.2484-3dup rs2500633011
NM_025114.4(CEP290):c.2484-8G>A rs1436691712
NM_025114.4(CEP290):c.2484-8G>T rs1436691712
NM_025114.4(CEP290):c.2484-9del rs1189055838
NM_025114.4(CEP290):c.2490G>A (p.Lys830=) rs1487806486
NM_025114.4(CEP290):c.2497del (p.Trp833fs) rs2137624524
NM_025114.4(CEP290):c.2499G>A (p.Trp833Ter) rs2137624440
NM_025114.4(CEP290):c.250+10T>C rs1317384355
NM_025114.4(CEP290):c.250+11T>A rs2040518690
NM_025114.4(CEP290):c.250+13G>A rs2501799612
NM_025114.4(CEP290):c.250+14A>G rs2501799527
NM_025114.4(CEP290):c.250+16A>G rs1243557818
NM_025114.4(CEP290):c.250+1G>A rs2501800454
NM_025114.4(CEP290):c.250+20T>C
NM_025114.4(CEP290):c.250+2T>G
NM_025114.4(CEP290):c.250+9C>G rs2040519029
NM_025114.4(CEP290):c.2506_2507del (p.Glu836fs) rs1223251937
NM_025114.4(CEP290):c.251-11del rs752284551
NM_025114.4(CEP290):c.251-19dup rs752284551
NM_025114.4(CEP290):c.251-1G>C rs2138259162
NM_025114.4(CEP290):c.251-20del rs879405859
NM_025114.4(CEP290):c.251-2A>G rs951979448
NM_025114.4(CEP290):c.251-4del rs759170743
NM_025114.4(CEP290):c.251-4dup rs759170743
NM_025114.4(CEP290):c.2510del (p.Ser837fs) rs1345613057
NM_025114.4(CEP290):c.2515A>G (p.Thr839Ala) rs1227513489
NM_025114.4(CEP290):c.2526G>T (p.Glu842Asp) rs2500630783
NM_025114.4(CEP290):c.2536A>G (p.Lys846Glu) rs2137623175
NM_025114.4(CEP290):c.2538A>G (p.Lys846=) rs2500630224
NM_025114.4(CEP290):c.2544G>A (p.Glu848=) rs1201358340
NM_025114.4(CEP290):c.2545G>C (p.Asp849His) rs1565877637
NM_025114.4(CEP290):c.254del (p.Asn85fs) rs2138259100
NM_025114.4(CEP290):c.254dup (p.Asn85fs) rs2138259100
NM_025114.4(CEP290):c.2550A>G (p.Gln850=) rs2500629532
NM_025114.4(CEP290):c.2554C>T (p.Gln852Ter) rs886038694
NM_025114.4(CEP290):c.2557C>T (p.Gln853Ter) rs2038335853
NM_025114.4(CEP290):c.2559A>G (p.Gln853=) rs2500629159
NM_025114.4(CEP290):c.2565T>C (p.Ala855=) rs2500628807
NM_025114.4(CEP290):c.2566A>G (p.Ile856Val) rs1003364525
NM_025114.4(CEP290):c.2567dup (p.Val858fs) rs2500628699
NM_025114.4(CEP290):c.2568A>C (p.Ile856=) rs775965379
NM_025114.4(CEP290):c.256C>A (p.Gln86Lys) rs1004064531
NM_025114.4(CEP290):c.256_259del (p.Asn85_Gln86insTer) rs2138258864
NM_025114.4(CEP290):c.2571del (p.Lys857_Val858insTer) rs2500628432
NM_025114.4(CEP290):c.2578G>T (p.Glu860Ter) rs2500627820
NM_025114.4(CEP290):c.2583T>C (p.Tyr861=) rs775402106
NM_025114.4(CEP290):c.2586_2586+4del rs2500627262
NM_025114.4(CEP290):c.2587-10C>G rs2137619649
NM_025114.4(CEP290):c.2587-14G>T rs1267720776
NM_025114.4(CEP290):c.2587-16A>T rs2038325509
NM_025114.4(CEP290):c.2587-17G>A rs2500624663
NM_025114.4(CEP290):c.2587-1G>A rs1247861318
NM_025114.4(CEP290):c.2587-1G>T rs1247861318
NM_025114.4(CEP290):c.2587-2A>G
NM_025114.4(CEP290):c.258A>G (p.Gln86=) rs2501787133
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs) rs1221464366
NM_025114.4(CEP290):c.259T>C (p.Leu87=) rs2501786982
NM_025114.4(CEP290):c.2600C>T (p.Ala867Val) rs2038321746
NM_025114.4(CEP290):c.2602C>T (p.Leu868Phe) rs2500623125
NM_025114.4(CEP290):c.2608A>G (p.Met870Val) rs2038321332
NM_025114.4(CEP290):c.2615C>A (p.Ser872Ter) rs373341530
NM_025114.4(CEP290):c.2618A>T (p.Asp873Val) rs1164443581
NM_025114.4(CEP290):c.2621A>T (p.Glu874Val) rs2500622437
NM_025114.4(CEP290):c.2632del (p.Ile878fs) rs1404507934
NM_025114.4(CEP290):c.2640A>C (p.Ala880=) rs2137617832
NM_025114.4(CEP290):c.2646T>C (p.Asn882=) rs2038318253
NM_025114.4(CEP290):c.2646TAG[1] (p.Ser883del) rs2500620944
NM_025114.4(CEP290):c.2652G>A (p.Arg884=) rs2137617412
NM_025114.4(CEP290):c.2655A>G (p.Lys885=) rs2038317712
NM_025114.4(CEP290):c.2661T>C (p.Thr887=) rs2137617168
NM_025114.4(CEP290):c.2668C>T (p.Gln890Ter) rs886044332
NM_025114.4(CEP290):c.2668del (p.Gln890fs) rs2500620311
NM_025114.4(CEP290):c.2673G>A (p.Val891=) rs200156425
NM_025114.4(CEP290):c.267T>G (p.Thr89=) rs2501786684
NM_025114.4(CEP290):c.2681A>T (p.Lys894Ile) rs2137616560
NM_025114.4(CEP290):c.2682del (p.Lys894fs) rs1555216730
NM_025114.4(CEP290):c.2689dup (p.Ile897fs) rs2500619029
NM_025114.4(CEP290):c.2694G>A (p.Arg898=) rs2038314186
NM_025114.4(CEP290):c.2694G>C (p.Arg898Ser) rs2038314186
NM_025114.4(CEP290):c.2695C>T (p.Gln899Ter) rs2500618622
NM_025114.4(CEP290):c.2697A>G (p.Gln899=) rs770769486
NM_025114.4(CEP290):c.2704A>T (p.Thr902Ser) rs1353471879
NM_025114.4(CEP290):c.2706C>G (p.Thr902=) rs2500617878
NM_025114.4(CEP290):c.270_274del (p.Lys90fs) rs1027368517
NM_025114.4(CEP290):c.2728C>T (p.Leu910Phe) rs375348494
NM_025114.4(CEP290):c.272_276del (p.Val91fs) rs2040498071
NM_025114.4(CEP290):c.2730T>C (p.Leu910=) rs2500616650
NM_025114.4(CEP290):c.2732_2735del (p.Arg911fs) rs2137614623
NM_025114.4(CEP290):c.2737G>T (p.Glu913Ter) rs2500616179
NM_025114.4(CEP290):c.273A>G (p.Val91=) rs768434171
NM_025114.4(CEP290):c.2746A>T (p.Lys916Ter) rs2500615773
NM_025114.4(CEP290):c.274_280del (p.Met92fs) rs2138258171
NM_025114.4(CEP290):c.2757T>C (p.Asn919=) rs2500615254
NM_025114.4(CEP290):c.2761T>C (p.Leu921=)
NM_025114.4(CEP290):c.2776G>C (p.Ala926Pro) rs2500614358
NM_025114.4(CEP290):c.2782G>C (p.Val928Leu) rs961715276
NM_025114.4(CEP290):c.2784T>G (p.Val928=) rs774271927
NM_025114.4(CEP290):c.2785T>A (p.Cys929Ser) rs770836483
NM_025114.4(CEP290):c.2794dup (p.Ile932fs) rs2500613493
NM_025114.4(CEP290):c.2801_2802del (p.Cys934fs) rs2500613030
NM_025114.4(CEP290):c.2813T>C (p.Phe938Ser) rs2038302717
NM_025114.4(CEP290):c.2817+10A>G rs2137611795
NM_025114.4(CEP290):c.2817+10A>T rs2137611795
NM_025114.4(CEP290):c.2817+14T>C rs2500611947
NM_025114.4(CEP290):c.2817+16A>G rs2500611894
NM_025114.4(CEP290):c.2817+17T>C rs780234370
NM_025114.4(CEP290):c.2817+17T>G rs780234370
NM_025114.4(CEP290):c.2817+19T>A rs2500611761
NM_025114.4(CEP290):c.2817+1G>T rs2500612408
NM_025114.4(CEP290):c.2817G>A (p.Lys939=)
NM_025114.4(CEP290):c.2818-10A>G rs2137544573
NM_025114.4(CEP290):c.2818-14C>T rs762841660
NM_025114.4(CEP290):c.2818-15T>A rs766322259
NM_025114.4(CEP290):c.2818-4A>G rs2137544449
NM_025114.4(CEP290):c.2818-6A>G rs2500531138
NM_025114.4(CEP290):c.2821A>G (p.Met941Val) rs2038012227
NM_025114.4(CEP290):c.2826C>G (p.Ala942=) rs1456663660
NM_025114.4(CEP290):c.2826C>T (p.Ala942=) rs1456663660
NM_025114.4(CEP290):c.282G>A (p.Leu94=) rs2501785645
NM_025114.4(CEP290):c.2841A>T (p.Ala947=) rs1252435155
NM_025114.4(CEP290):c.2844T>A (p.Ala948=) rs2137543585
NM_025114.4(CEP290):c.2847C>T (p.Leu949=) rs2500530020
NM_025114.4(CEP290):c.2853A>G (p.Lys951=) rs2038009620
NM_025114.4(CEP290):c.2864A>G (p.Asn955Ser) rs1443848622
NM_025114.4(CEP290):c.2865_2866del (p.Asn955fs)
NM_025114.4(CEP290):c.2874T>G (p.Ser958=) rs2500528833
NM_025114.4(CEP290):c.2884C>A (p.Leu962Ile) rs2500528187
NM_025114.4(CEP290):c.2887G>T (p.Glu963Ter) rs1180594304
NM_025114.4(CEP290):c.2890C>T (p.Leu964=) rs1237834262
NM_025114.4(CEP290):c.2902C>T (p.Gln968Ter) rs1592574519
NM_025114.4(CEP290):c.2911G>A (p.Glu971Lys) rs780805963
NM_025114.4(CEP290):c.2911G>T (p.Glu971Ter) rs780805963
NM_025114.4(CEP290):c.291A>T (p.Glu97Asp) rs757402765
NM_025114.4(CEP290):c.2927A>G (p.Tyr976Cys) rs1039332206
NM_025114.4(CEP290):c.2928C>T (p.Tyr976=) rs1393060819
NM_025114.4(CEP290):c.2929A>G (p.Arg977Gly) rs765840717
NM_025114.4(CEP290):c.292_293insA (p.Leu98fs) rs2040497202
NM_025114.4(CEP290):c.2930G>A (p.Arg977Lys)
NM_025114.4(CEP290):c.2931G>A (p.Arg977=) rs2500525000
NM_025114.4(CEP290):c.2932G>T (p.Asp978Tyr) rs2137541060
NM_025114.4(CEP290):c.2933A>G (p.Asp978Gly) rs758309007
NM_025114.4(CEP290):c.2933del (p.Asp978fs) rs2500524863
NM_025114.4(CEP290):c.2934C>T (p.Asp978=) rs2038000673
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter) rs1057518822
NM_025114.4(CEP290):c.2952T>C (p.Asn984=) rs1007548055
NM_025114.4(CEP290):c.2953A>G (p.Met985Val) rs1160930595
NM_025114.4(CEP290):c.2955G>A (p.Met985Ile) rs2037998320
NM_025114.4(CEP290):c.2958del (p.Val987fs) rs2500523689
NM_025114.4(CEP290):c.2965A>C (p.Arg989=) rs2037997734
NM_025114.4(CEP290):c.297+10T>C rs2138257173
NM_025114.4(CEP290):c.297+1G>A rs878853360
NM_025114.4(CEP290):c.297+1G>C rs878853360
NM_025114.4(CEP290):c.297+1del rs2138257533
NM_025114.4(CEP290):c.297+7C>G
NM_025114.4(CEP290):c.297+8T>A rs2138257277
NM_025114.4(CEP290):c.297+9T>C rs2138257225
NM_025114.4(CEP290):c.2975A>G (p.Asn992Ser) rs2137539633
NM_025114.4(CEP290):c.298-15G>A rs756197493
NM_025114.4(CEP290):c.298-16G>A rs531851010
NM_025114.4(CEP290):c.298-16G>C rs531851010
NM_025114.4(CEP290):c.298-16G>T rs531851010
NM_025114.4(CEP290):c.298-20T>G rs2501715610
NM_025114.4(CEP290):c.298-7C>T rs2040376906
NM_025114.4(CEP290):c.2986C>T (p.Leu996=) rs759867592
NM_025114.4(CEP290):c.2991+20G>T rs2500521977
NM_025114.4(CEP290):c.2992-10C>G rs2137426807
NM_025114.4(CEP290):c.2992-11C>T rs2500377739
NM_025114.4(CEP290):c.2992-17A>G rs1467596467
NM_025114.4(CEP290):c.2992-2A>C rs2037480406
NM_025114.4(CEP290):c.2992-6dup rs2137426720
NM_025114.4(CEP290):c.2992-7T>C rs2500377538
NM_025114.4(CEP290):c.2992T>G (p.Cys998Gly) rs2037480137
NM_025114.4(CEP290):c.2997A>G (p.Glu999=) rs2137426535
NM_025114.4(CEP290):c.3006C>T (p.Ser1002=) rs748493455
NM_025114.4(CEP290):c.3012del (p.Glu1005fs) rs1555213204
NM_025114.4(CEP290):c.3013G>C (p.Glu1005Gln) rs2037478393
NM_025114.4(CEP290):c.3013G>T (p.Glu1005Ter) rs2037478393
NM_025114.4(CEP290):c.3018A>G (p.Gln1006=) rs2500375900
NM_025114.4(CEP290):c.3019G>A (p.Val1007Met) rs2137425726
NM_025114.4(CEP290):c.3020T>C (p.Val1007Ala) rs898733071
NM_025114.4(CEP290):c.3022G>T (p.Glu1008Ter) rs2037477197
NM_025114.4(CEP290):c.3023_3024insCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAACAAGTGGA (p.Glu1008delinsAspLeuTer) rs2137425453
NM_025114.4(CEP290):c.3030A>C (p.Ile1010=) rs1280566129
NM_025114.4(CEP290):c.3032A>G (p.Asn1011Ser)
NM_025114.4(CEP290):c.3036A>G (p.Lys1012=) rs2137424983
NM_025114.4(CEP290):c.3037G>A (p.Glu1013Lys) rs2500374573
NM_025114.4(CEP290):c.303T>C (p.Ala101=) rs2040376122
NM_025114.4(CEP290):c.3045G>A (p.Glu1015=) rs2137424685
NM_025114.4(CEP290):c.305A>G (p.Gln102Arg) rs2501714367
NM_025114.4(CEP290):c.3066C>T (p.His1022=) rs2500372482
NM_025114.4(CEP290):c.3070A>G (p.Ile1024Val) rs2500372248
NM_025114.4(CEP290):c.3081C>A (p.Ala1027=) rs779561006
NM_025114.4(CEP290):c.3081C>T (p.Ala1027=) rs779561006
NM_025114.4(CEP290):c.3082T>G (p.Trp1028Gly) rs2037472723
NM_025114.4(CEP290):c.3093A>G (p.Glu1031=) rs1418518691
NM_025114.4(CEP290):c.30A>C (p.Ile10=) rs2501865644
NM_025114.4(CEP290):c.3103+13A>G rs750017567
NM_025114.4(CEP290):c.3103+15T>C rs2500369601
NM_025114.4(CEP290):c.3103+19A>G rs904040491
NM_025114.4(CEP290):c.3103G>T (p.Gly1035Cys) rs1195864585
NM_025114.4(CEP290):c.3104-16A>G rs2037246037
NM_025114.4(CEP290):c.3104-2A>G rs773386777
NM_025114.4(CEP290):c.3104-5T>A rs1302558061
NM_025114.4(CEP290):c.3104-8G>A rs1367753672
NM_025114.4(CEP290):c.3104-8G>T rs1367753672
NM_025114.4(CEP290):c.3104-9T>C rs766688095
NM_025114.4(CEP290):c.3111A>T (p.Glu1037Asp) rs1232167894
NM_025114.4(CEP290):c.3115A>C (p.Ser1039Arg) rs2037241839
NM_025114.4(CEP290):c.3119T>C (p.Met1040Thr) rs2137369505
NM_025114.4(CEP290):c.3121G>A (p.Asp1041Asn) rs1267990663
NM_025114.4(CEP290):c.312T>G (p.Ser104=) rs2138217275
NM_025114.4(CEP290):c.3130A>G (p.Lys1044Glu) rs2500282473
NM_025114.4(CEP290):c.3132G>T (p.Lys1044Asn) rs762342726
NM_025114.4(CEP290):c.3139A>G (p.Ile1047Val) rs2137368973
NM_025114.4(CEP290):c.3150dup (p.Asp1051Ter) rs2137368561
NM_025114.4(CEP290):c.3153C>T (p.Asp1051=) rs2037238077
NM_025114.4(CEP290):c.3156T>A (p.Ile1052=) rs779569679
NM_025114.4(CEP290):c.315A>G (p.Ala105=) rs2501713543
NM_025114.4(CEP290):c.3161C>T (p.Ser1054Phe) rs2500279438
NM_025114.4(CEP290):c.3162_3167del (p.Ile1055_Ser1056del) rs760503950
NM_025114.4(CEP290):c.3175A>C (p.Ile1059Leu) rs771815959
NM_025114.4(CEP290):c.3175A>G (p.Ile1059Val) rs771815959
NM_025114.4(CEP290):c.3175del (p.Lys1058_Ile1059insTer) rs62640570
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs) rs62640570
NM_025114.4(CEP290):c.3176del (p.Ile1059fs) rs863225184
NM_025114.4(CEP290):c.3178_3181del (p.Thr1060fs) rs1450189463
NM_025114.4(CEP290):c.3181A>G (p.Met1061Val) rs1201486566
NM_025114.4(CEP290):c.3181A>T (p.Met1061Leu)
NM_025114.4(CEP290):c.3181_3182del (p.Met1061fs) rs878853362
NM_025114.4(CEP290):c.3184C>T (p.Leu1062=) rs2137366862
NM_025114.4(CEP290):c.318T>G (p.Gly106=) rs2138217159
NM_025114.4(CEP290):c.3198A>T (p.Glu1066Asp) rs2037232190
NM_025114.4(CEP290):c.3204T>C (p.Asn1068=) rs2500275988
NM_025114.4(CEP290):c.3205G>T (p.Glu1069Ter) rs2137365958
NM_025114.4(CEP290):c.3205_3206delinsTG (p.Glu1069Ter) rs1555212150
NM_025114.4(CEP290):c.3210G>A (p.Arg1070=) rs1592539040
NM_025114.4(CEP290):c.3212dup (p.Arg1072fs) rs778407127
NM_025114.4(CEP290):c.3214C>A (p.Arg1072=) rs780870106
NM_025114.4(CEP290):c.3214C>T (p.Arg1072Trp) rs780870106
NM_025114.4(CEP290):c.321A>T (p.Gly107=) rs2501713273
NM_025114.4(CEP290):c.3235A>C (p.Met1079Leu) rs2037228349
NM_025114.4(CEP290):c.3239A>G (p.Tyr1080Cys) rs902039539
NM_025114.4(CEP290):c.3240T>A (p.Tyr1080Ter) rs886042467
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter) rs886042467
NM_025114.4(CEP290):c.3249A>G (p.Leu1083=) rs1405336841
NM_025114.4(CEP290):c.3249_3250insAA (p.Arg1084fs) rs2037226237
NM_025114.4(CEP290):c.3249dup (p.Arg1084fs) rs2037226237
NM_025114.4(CEP290):c.3250C>A (p.Arg1084=) rs372918770
NM_025114.4(CEP290):c.3250C>G (p.Arg1084Gly) rs372918770
NM_025114.4(CEP290):c.3250C>T (p.Arg1084Trp) rs372918770
NM_025114.4(CEP290):c.3252G>A (p.Arg1084=) rs2137363882
NM_025114.4(CEP290):c.3265C>T (p.Gln1089Ter) rs2500271417
NM_025114.4(CEP290):c.3267A>G (p.Gln1089=) rs2500271224
NM_025114.4(CEP290):c.3278G>C (p.Arg1093Pro) rs1049569883
NM_025114.4(CEP290):c.3285del (p.Phe1095fs) rs1017496924
NM_025114.4(CEP290):c.3286G>T (p.Glu1096Ter) rs2500270196
NM_025114.4(CEP290):c.3288A>G (p.Glu1096=) rs1338354123
NM_025114.4(CEP290):c.3291G>A (p.Leu1097=) rs2037221962
NM_025114.4(CEP290):c.3297C>G (p.Thr1099=) rs1277434581
NM_025114.4(CEP290):c.3304G>A (p.Ala1102Thr) rs770569475
NM_025114.4(CEP290):c.3309+14A>C rs2500268145
NM_025114.4(CEP290):c.3309+16T>G rs1400483491
NM_025114.4(CEP290):c.3309+8A>T rs2137362040
NM_025114.4(CEP290):c.3309G>A (p.Glu1103=) rs2500269301
NM_025114.4(CEP290):c.3310-1_3310delinsAA rs2037150824
NM_025114.4(CEP290):c.3310-2A>G rs2137345150
NM_025114.4(CEP290):c.3310-5C>A rs2137345196
NM_025114.4(CEP290):c.3310-6C>T rs774139392
NM_025114.4(CEP290):c.3310-7del rs2037151700
NM_025114.4(CEP290):c.3313A>C (p.Thr1105Pro) rs772886007
NM_025114.4(CEP290):c.3321C>T (p.Ile1107=) rs2037149786
NM_025114.4(CEP290):c.3330T>C (p.Asp1110=) rs567185914
NM_025114.4(CEP290):c.3334C>T (p.Gln1112Ter) rs2137344539
NM_025114.4(CEP290):c.333G>T (p.Arg111=) rs2138216422
NM_025114.4(CEP290):c.3351G>A (p.Met1117Ile) rs2037147645
NM_025114.4(CEP290):c.3363A>G (p.Glu1121=) rs2500234412
NM_025114.4(CEP290):c.3380G>A (p.Ser1127Asn) rs757526726
NM_025114.4(CEP290):c.338T>A (p.Leu113Ter) rs2040373653
NM_025114.4(CEP290):c.3390_3393del (p.Ser1131fs) rs2137342973
NM_025114.4(CEP290):c.3396T>C (p.Asp1132=) rs1291200387
NM_025114.4(CEP290):c.3398C>T (p.Ala1133Val) rs2500232968
NM_025114.4(CEP290):c.3405G>A (p.Arg1135=) rs2500232263
NM_025114.4(CEP290):c.3418G>A (p.Glu1140Lys) rs766095901
NM_025114.4(CEP290):c.3418G>C (p.Glu1140Gln) rs766095901
NM_025114.4(CEP290):c.3418G>T (p.Glu1140Ter) rs766095901
NM_025114.4(CEP290):c.3422dup (p.Leu1141fs) rs770474857
NM_025114.4(CEP290):c.3426G>A (p.Glu1142=) rs2137341818
NM_025114.4(CEP290):c.3431A>G (p.Asn1144Ser) rs2137341520
NM_025114.4(CEP290):c.3432_3434dup (p.Asn1144_Glu1145insAsp) rs2137341409
NM_025114.4(CEP290):c.3441A>G (p.Glu1147=) rs2137341183
NM_025114.4(CEP290):c.3448G>A (p.Val1150Ile) rs2137340972
NM_025114.4(CEP290):c.3451G>T (p.Glu1151Ter) rs2500228774
NM_025114.4(CEP290):c.345T>A (p.Asn115Lys) rs2501711671
NM_025114.4(CEP290):c.3460A>G (p.Lys1154Glu) rs753136596
NM_025114.4(CEP290):c.3461+10T>A rs2500227427
NM_025114.4(CEP290):c.3461+14A>T rs1469392631
NM_025114.4(CEP290):c.3461+15G>A rs2137340039
NM_025114.4(CEP290):c.3461+17A>G rs749524009
NM_025114.4(CEP290):c.3461+1G>A rs766952056
NM_025114.4(CEP290):c.3461+2_3461+3delinsGT
NM_025114.4(CEP290):c.3461+7G>T rs1565852636
NM_025114.4(CEP290):c.3461+9A>G rs1301659851
NM_025114.4(CEP290):c.3461A>C (p.Lys1154Thr) rs1050202680
NM_025114.4(CEP290):c.3462-10C>A rs2137305901
NM_025114.4(CEP290):c.3462-12A>T rs778134699
NM_025114.4(CEP290):c.3462-16C>T rs185796433
NM_025114.4(CEP290):c.3462-18T>C rs2036982664
NM_025114.4(CEP290):c.3462-19del rs2500167092
NM_025114.4(CEP290):c.3462-5C>T rs2036980891
NM_025114.4(CEP290):c.3477T>C (p.Ser1159=) rs2137305444
NM_025114.4(CEP290):c.3481A>T (p.Ile1161Phe) rs2036979298
NM_025114.4(CEP290):c.3482T>C (p.Ile1161Thr) rs2036979094
NM_025114.4(CEP290):c.3486C>G (p.Ala1162=) rs376583223
NM_025114.4(CEP290):c.3488_3494dup (p.Val1166fs) rs2036977719
NM_025114.4(CEP290):c.348A>G (p.Glu116=) rs2501711612
NM_025114.4(CEP290):c.3493C>T (p.Gln1165Ter) rs2036977924
NM_025114.4(CEP290):c.3495A>G (p.Gln1165=) rs1477997673
NM_025114.4(CEP290):c.3497T>G (p.Val1166Gly) rs2500163184
NM_025114.4(CEP290):c.3499G>C (p.Glu1167Gln) rs764868103
NM_025114.4(CEP290):c.3513A>G (p.Ala1171=) rs2036975492
NM_025114.4(CEP290):c.3514C>T (p.Gln1172Ter) rs2036975289
NM_025114.4(CEP290):c.3514CAA[2] (p.Gln1174del) rs749010290
NM_025114.4(CEP290):c.3520C>T (p.Gln1174Ter) rs2036974151
NM_025114.4(CEP290):c.3528G>A (p.Arg1176=) rs2500159458
NM_025114.4(CEP290):c.3533A>G (p.Lys1178Arg) rs2137303115
NM_025114.4(CEP290):c.3533del (p.Lys1178fs) rs2036971853
NM_025114.4(CEP290):c.3537A>G (p.Glu1179=) rs2500158511
NM_025114.4(CEP290):c.3540A>G (p.Val1180=) rs2500158236
NM_025114.4(CEP290):c.3542A>G (p.Glu1181Gly) rs1402260550
NM_025114.4(CEP290):c.3543G>A (p.Glu1181=) rs2137302632
NM_025114.4(CEP290):c.3545C>A (p.Ser1182Tyr) rs2500157929
NM_025114.4(CEP290):c.3546C>A (p.Ser1182=) rs760639256
NM_025114.4(CEP290):c.3546C>G (p.Ser1182=) rs760639256
NM_025114.4(CEP290):c.354C>T (p.Cys118=) rs370725951
NM_025114.4(CEP290):c.3552A>G (p.Arg1184=) rs2137302452
NM_025114.4(CEP290):c.3558A>C (p.Gln1186His) rs1189042096
NM_025114.4(CEP290):c.3558A>G (p.Gln1186=) rs1189042096
NM_025114.4(CEP290):c.355C>T (p.Gln119Ter) rs2138215835
NM_025114.4(CEP290):c.3571C>T (p.Gln1191Ter) rs2500156012
NM_025114.4(CEP290):c.3572A>G (p.Gln1191Arg) rs867172785
NM_025114.4(CEP290):c.3573+10G>T rs2036965346
NM_025114.4(CEP290):c.3573+13T>C rs2137301378
NM_025114.4(CEP290):c.3573+17C>A rs1447876101
NM_025114.4(CEP290):c.3573+1G>A rs1339320666
NM_025114.4(CEP290):c.3573+1G>C rs1339320666
NM_025114.4(CEP290):c.3573+1G>T rs1339320666
NM_025114.4(CEP290):c.3573+1del rs2137301783
NM_025114.4(CEP290):c.3573+5G>A rs974204266
NM_025114.4(CEP290):c.3573+7G>T rs2137301511
NM_025114.4(CEP290):c.3574-10_3574-9del rs10717563
NM_025114.4(CEP290):c.3574-15T>G rs565414938
NM_025114.4(CEP290):c.3574-16_3574-15insA rs2036855666
NM_025114.4(CEP290):c.3574-16dup rs10717563
NM_025114.4(CEP290):c.3574-17A>G rs2036856390
NM_025114.4(CEP290):c.3574-19A>G rs2137281532
NM_025114.4(CEP290):c.3574-1G>A rs2500121878
NM_025114.4(CEP290):c.3574-20T>A rs1565847074
NM_025114.4(CEP290):c.3574-2A>G rs2500121943
NM_025114.4(CEP290):c.3574-5A>G rs2036853648
NM_025114.4(CEP290):c.3574-7A>T rs2500122261
NM_025114.4(CEP290):c.3574-7del rs2500122332
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.3577C>T (p.Gln1193Ter) rs2500121621
NM_025114.4(CEP290):c.3591G>A (p.Lys1197=) rs2500120961
NM_025114.4(CEP290):c.3593C>A (p.Ser1198Ter) rs372640024
NM_025114.4(CEP290):c.3603C>T (p.Ala1201=) rs2500120052
NM_025114.4(CEP290):c.3605A>G (p.Lys1202Arg) rs375065584
NM_025114.4(CEP290):c.3609G>A (p.Leu1203=) rs2500119596
NM_025114.4(CEP290):c.361G>T (p.Glu121Ter) rs2138215714
NM_025114.4(CEP290):c.362A>C (p.Glu121Ala) rs2040372439
NM_025114.4(CEP290):c.362A>G (p.Glu121Gly) rs2040372439
NM_025114.4(CEP290):c.3630T>G (p.Leu1210=) rs2500118476
NM_025114.4(CEP290):c.3633_3637del (p.Gln1211_Leu1212insTer) rs2137279498
NM_025114.4(CEP290):c.3638G>C (p.Ser1213Thr) rs1298290891
NM_025114.4(CEP290):c.3643_3652del (p.Ala1215fs) rs2500117363
NM_025114.4(CEP290):c.3650C>T (p.Ala1217Val) rs2500117525
NM_025114.4(CEP290):c.3660G>A (p.Lys1220=) rs201982308
NM_025114.4(CEP290):c.3669A>C (p.Ser1223=) rs968207045
NM_025114.4(CEP290):c.3669A>G (p.Ser1223=) rs968207045
NM_025114.4(CEP290):c.3675A>T (p.Thr1225=) rs2036843900
NM_025114.4(CEP290):c.367C>T (p.Gln123Ter) rs770126103
NM_025114.4(CEP290):c.3693G>T (p.Met1231Ile) rs1221399740
NM_025114.4(CEP290):c.3697G>A (p.Ala1233Thr) rs2500115290
NM_025114.4(CEP290):c.369del (p.Gln123fs) rs773622064
NM_025114.4(CEP290):c.3704A>G (p.Asn1235Ser) rs1344828907
NM_025114.4(CEP290):c.3708G>A (p.Leu1236=) rs2500114598
NM_025114.4(CEP290):c.3710G>T (p.Arg1237Leu) rs7307793
NM_025114.4(CEP290):c.3714A>G (p.Leu1238=) rs2500114248
NM_025114.4(CEP290):c.3721A>T (p.Lys1241Ter) rs2500113822
NM_025114.4(CEP290):c.3723A>G (p.Lys1241=) rs1592856911
NM_025114.4(CEP290):c.3729T>C (p.Asp1243=) rs2500113416
NM_025114.4(CEP290):c.372A>G (p.Leu124=) rs2040371763
NM_025114.4(CEP290):c.3730G>T (p.Glu1244Ter) rs2137277291
NM_025114.4(CEP290):c.3731A>G (p.Glu1244Gly) rs1342978055
NM_025114.4(CEP290):c.3732A>G (p.Glu1244=) rs2137277122
NM_025114.4(CEP290):c.3733_3735del (p.Lys1245del) rs2137277006
NM_025114.4(CEP290):c.3738del (p.Glu1246fs) rs2500112677
NM_025114.4(CEP290):c.373G>A (p.Glu125Lys) rs2040371663
NM_025114.4(CEP290):c.3741_3752dup (p.Tyr1251Ter) rs2500111542
NM_025114.4(CEP290):c.3744T>C (p.Ala1248=) rs2137276523
NM_025114.4(CEP290):c.3745C>T (p.Leu1249Phe) rs746213611
NM_025114.4(CEP290):c.3745_3748del (p.Leu1249fs) rs2137276301
NM_025114.4(CEP290):c.3756T>C (p.Ala1252=) rs2500110916
NM_025114.4(CEP290):c.3761dup (p.Leu1254fs) rs750520052
NM_025114.4(CEP290):c.376C>A (p.Gln126Lys) rs1222421581
NM_025114.4(CEP290):c.3777_3778del (p.Arg1259fs) rs765483163
NM_025114.4(CEP290):c.377A>T (p.Gln126Leu) rs748429036
NM_025114.4(CEP290):c.3780A>G (p.Ala1260=) rs2500109514
NM_025114.4(CEP290):c.3783del (p.Lys1261fs) rs2036833257
NM_025114.4(CEP290):c.3786_3798del (p.His1262fs) rs2500108418
NM_025114.4(CEP290):c.3787C>T (p.Leu1263=) rs370395204
NM_025114.4(CEP290):c.3803del (p.Gln1268fs) rs2036830890
NM_025114.4(CEP290):c.3807T>C (p.Ser1269=) rs1405878362
NM_025114.4(CEP290):c.3808_3809del (p.Leu1270fs) rs1565846034
NM_025114.4(CEP290):c.3810A>C (p.Leu1270=) rs769060806
NM_025114.4(CEP290):c.3810A>T (p.Leu1270=) rs769060806
NM_025114.4(CEP290):c.3817C>A (p.Gln1273Lys)
NM_025114.4(CEP290):c.3818A>G (p.Gln1273Arg) rs2500106964
NM_025114.4(CEP290):c.3823A>G (p.Ser1275Gly) rs2036828226
NM_025114.4(CEP290):c.3829_3830delinsCT (p.Ala1277Leu) rs1565845877
NM_025114.4(CEP290):c.382G>C (p.Asp128His) rs755112866
NM_025114.4(CEP290):c.382G>T (p.Asp128Tyr) rs755112866
NM_025114.4(CEP290):c.3830C>T (p.Ala1277Val) rs749710169
NM_025114.4(CEP290):c.3831T>A (p.Ala1277=) rs2500105860
NM_025114.4(CEP290):c.3831T>C (p.Ala1277=) rs2500105860
NM_025114.4(CEP290):c.3832T>C (p.Leu1278=) rs2500105783
NM_025114.4(CEP290):c.3838_3840dup (p.Leu1280_Ala1281insLeu) rs2500105472
NM_025114.4(CEP290):c.3847C>T (p.Gln1283Ter) rs2036824785
NM_025114.4(CEP290):c.384_385del (p.Asp128fs) rs1288619268
NM_025114.4(CEP290):c.384_387del (p.Asp128fs) rs386834157
NM_025114.4(CEP290):c.3855G>A (p.Lys1285=) rs766410040
NM_025114.4(CEP290):c.385A>G (p.Arg129Gly) rs2138214415
NM_025114.4(CEP290):c.3860C>T (p.Ser1287Phe) rs1328822477
NM_025114.4(CEP290):c.3867A>G (p.Thr1289=) rs1387223378
NM_025114.4(CEP290):c.3879A>G (p.Leu1293=) rs2137272114
NM_025114.4(CEP290):c.3884dup (p.Asn1295fs) rs1381090737
NM_025114.4(CEP290):c.3885T>C (p.Asn1295=) rs2500102576
NM_025114.4(CEP290):c.3888C>T (p.Asp1296=) rs2137271829
NM_025114.4(CEP290):c.3894dup (p.Lys1299Ter) rs761907569
NM_025114.4(CEP290):c.389A>G (p.Glu130Gly) rs2501709322
NM_025114.4(CEP290):c.38T>A (p.Val13Asp) rs2501865235
NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter) rs587783016
NM_025114.4(CEP290):c.3906A>G (p.Gln1302=)
NM_025114.4(CEP290):c.3909A>G (p.Glu1303=) rs2137271264
NM_025114.4(CEP290):c.3911_3915del (p.Met1304fs) rs2500101115
NM_025114.4(CEP290):c.3915A>G (p.Lys1305=) rs2500101041
NM_025114.4(CEP290):c.3917del (p.Asn1306fs) rs2036817502
NM_025114.4(CEP290):c.3920C>A (p.Ser1307Tyr)
NM_025114.4(CEP290):c.3921T>C (p.Ser1307=) rs369567962
NM_025114.4(CEP290):c.3924A>G (p.Gln1308=) rs2036816675
NM_025114.4(CEP290):c.3925C>G (p.Gln1309Glu) rs2036816455
NM_025114.4(CEP290):c.3930A>G (p.Glu1310=) rs775663498
NM_025114.4(CEP290):c.3934A>T (p.Arg1312Ter) rs774705706
NM_025114.4(CEP290):c.3938A>T (p.Asn1313Ile) rs2500099938
NM_025114.4(CEP290):c.3945G>A (p.Glu1315=) rs1367935035
NM_025114.4(CEP290):c.3948C>G (p.Asn1316Lys) rs1361449401
NM_025114.4(CEP290):c.3948C>T (p.Asn1316=) rs1361449401
NM_025114.4(CEP290):c.3950A>C (p.Lys1317Thr) rs778137534
NM_025114.4(CEP290):c.3951_3977del (p.Thr1318_Lys1326del) rs2500097763
NM_025114.4(CEP290):c.3956del (p.Leu1319fs) rs2137269723
NM_025114.4(CEP290):c.3972A>G (p.Lys1324=) rs2137269381
NM_025114.4(CEP290):c.3980G>T (p.Gly1327Val) rs959651787
NM_025114.4(CEP290):c.3981C>G (p.Gly1327=) rs2500097472
NM_025114.4(CEP290):c.3982del (p.Leu1328fs)
NM_025114.4(CEP290):c.3987A>G (p.Glu1329=) rs1224624148
NM_025114.4(CEP290):c.3988G>T (p.Glu1330Ter) rs1285349002
NM_025114.4(CEP290):c.3992T>A (p.Leu1331Ter) rs2500096910
NM_025114.4(CEP290):c.39T>G (p.Val13=) rs2040642206
NM_025114.4(CEP290):c.4006A>G (p.Lys1336Glu) rs2036809812
NM_025114.4(CEP290):c.4008G>A (p.Lys1336=) rs2500096012
NM_025114.4(CEP290):c.4020A>C (p.Gly1340=) rs2500095329
NM_025114.4(CEP290):c.4028del (p.Lys1343fs) rs1213286417
NM_025114.4(CEP290):c.4029+14C>T rs574650335
NM_025114.4(CEP290):c.4029+17G>A rs758453953
NM_025114.4(CEP290):c.4029+17G>C rs758453953
NM_025114.4(CEP290):c.4029+17G>T rs758453953
NM_025114.4(CEP290):c.4029+7A>G rs2500094400
NM_025114.4(CEP290):c.4030-11G>A rs2500067872
NM_025114.4(CEP290):c.4030-14A>T rs910563325
NM_025114.4(CEP290):c.4030-19T>C
NM_025114.4(CEP290):c.4030-2A>G rs2036722229
NM_025114.4(CEP290):c.4030-5del rs2137252186
NM_025114.4(CEP290):c.4030-9A>T
NM_025114.4(CEP290):c.4033del (p.Ile1345fs) rs771939468
NM_025114.4(CEP290):c.4035C>A (p.Ile1345=) rs2500067340
NM_025114.4(CEP290):c.4038C>T (p.Asn1346=) rs2137251909
NM_025114.4(CEP290):c.4040G>A (p.Trp1347Ter) rs1339975972
NM_025114.4(CEP290):c.4043A>G (p.His1348Arg) rs1285246761
NM_025114.4(CEP290):c.4050A>G (p.Lys1350=) rs763469027
NM_025114.4(CEP290):c.4054GAA[1] (p.Glu1353del) rs2036719008
NM_025114.4(CEP290):c.4057G>T (p.Glu1353Ter) rs2500066079
NM_025114.4(CEP290):c.405A>G (p.Glu135=) rs2501708671
NM_025114.4(CEP290):c.4069C>T (p.Gln1357Ter) rs2500065308
NM_025114.4(CEP290):c.4071A>G (p.Gln1357=) rs2500065242
NM_025114.4(CEP290):c.4074A>G (p.Glu1358=) rs1031453040
NM_025114.4(CEP290):c.4076_4077del (p.Leu1359fs) rs2500065047
NM_025114.4(CEP290):c.4077T>C (p.Leu1359=) rs2137250800
NM_025114.4(CEP290):c.4078_4081del (p.Leu1359_Lys1360insTer) rs2036717675
NM_025114.4(CEP290):c.4087C>A (p.Arg1363=) rs181121175
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.4(CEP290):c.4088G>T (p.Arg1363Leu) rs188502327
NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter) rs779645669
NM_025114.4(CEP290):c.4095A>G (p.Leu1365=) rs1006145739
NM_025114.4(CEP290):c.4096_4099del (p.Val1366fs) rs1308598847
NM_025114.4(CEP290):c.4097T>G (p.Val1366Gly) rs1270381017
NM_025114.4(CEP290):c.4098C>A (p.Val1366=) rs1314303594
NM_025114.4(CEP290):c.4098C>T (p.Val1366=) rs1314303594
NM_025114.4(CEP290):c.40G>A (p.Asp14Asn) rs769179397
NM_025114.4(CEP290):c.4101G>A (p.Lys1367=) rs2500062102
NM_025114.4(CEP290):c.4102G>T (p.Asp1368Tyr) rs184143186
NM_025114.4(CEP290):c.4110A>G (p.Glu1370=) rs1190210677
NM_025114.4(CEP290):c.4115_4116del (p.Ile1372fs) rs62640582
NM_025114.4(CEP290):c.4115_4118del (p.Ile1372fs) rs2500060832
NM_025114.4(CEP290):c.4116A>C (p.Ile1372=) rs2137249532
NM_025114.4(CEP290):c.4121del (p.Tyr1374fs) rs2500060504
NM_025114.4(CEP290):c.4124T>A (p.Leu1375Ter) rs2500060132
NM_025114.4(CEP290):c.412T>C (p.Leu138=) rs1592693326
NM_025114.4(CEP290):c.4133_4134del (p.Ile1378fs) rs2036712105
NM_025114.4(CEP290):c.4137T>C (p.Ile1379=) rs2500059520
NM_025114.4(CEP290):c.4142A>C (p.Glu1381Ala) rs1175360748
NM_025114.4(CEP290):c.4152T>A (p.Arg1384=) rs2137248717
NM_025114.4(CEP290):c.4160_4164delinsATGAACGTACATAATTTCTGAATATGAA (p.Ser1387_Ser1388delinsAsnGluArgThrTer) rs2137248487
NM_025114.4(CEP290):c.4167T>G (p.Leu1389=) rs2137248362
NM_025114.4(CEP290):c.4175A>T (p.Glu1392Val) rs2137248175
NM_025114.4(CEP290):c.4176A>G (p.Glu1392=) rs2137248119
NM_025114.4(CEP290):c.4179T>C (p.Ile1393=) rs2500055898
NM_025114.4(CEP290):c.4186C>T (p.Gln1396Ter) rs1459653241
NM_025114.4(CEP290):c.4187A>G (p.Gln1396Arg) rs2500055145
NM_025114.4(CEP290):c.4194+10T>C rs2500053702
NM_025114.4(CEP290):c.4194+11A>G rs773702056
NM_025114.4(CEP290):c.4194+11A>T rs773702056
NM_025114.4(CEP290):c.4194+13A>G rs770347122
NM_025114.4(CEP290):c.4194+16T>C rs2500053070
NM_025114.4(CEP290):c.4194+17A>T rs377548352
NM_025114.4(CEP290):c.4194+19T>G rs2500052868
NM_025114.4(CEP290):c.4194+1G>C rs1306782857
NM_025114.4(CEP290):c.4194+2T>A rs2137247685
NM_025114.4(CEP290):c.4194+8T>G rs1203422704
NM_025114.4(CEP290):c.4194+8_4194+12del rs1223134777
NM_025114.4(CEP290):c.4195-13G>A rs2500019931
NM_025114.4(CEP290):c.4195-13G>T
NM_025114.4(CEP290):c.4195-18A>G rs1422708697
NM_025114.4(CEP290):c.4195-19C>A rs1046247551
NM_025114.4(CEP290):c.4195-1G>T rs751807811
NM_025114.4(CEP290):c.4195-3del rs748771739
NM_025114.4(CEP290):c.4195-3dup rs748771739
NM_025114.4(CEP290):c.4195-5T>C rs1014066992
NM_025114.4(CEP290):c.4195-8T>C rs2137221868
NM_025114.4(CEP290):c.4200T>C (p.His1400=) rs2137221395
NM_025114.4(CEP290):c.4201G>T (p.Glu1401Ter) rs2500019381
NM_025114.4(CEP290):c.420del (p.Glu141fs) rs868858346
NM_025114.4(CEP290):c.4215G>A (p.Met1405Ile) rs797045457
NM_025114.4(CEP290):c.4224T>C (p.Asp1408=) rs2137220817
NM_025114.4(CEP290):c.4239C>A (p.Asp1413Glu) rs2500017941
NM_025114.4(CEP290):c.4239C>T (p.Asp1413=) rs2500017941
NM_025114.4(CEP290):c.4240C>T (p.Leu1414=) rs762417751
NM_025114.4(CEP290):c.4249C>T (p.Gln1417Ter)
NM_025114.4(CEP290):c.4254A>G (p.Leu1418=) rs1180101916
NM_025114.4(CEP290):c.4263T>C (p.Phe1421=) rs2137219486
NM_025114.4(CEP290):c.4263del (p.Phe1421fs) rs2137219551
NM_025114.4(CEP290):c.4276_4277del (p.Gln1425_Asn1426insTer) rs863224523
NM_025114.4(CEP290):c.4285C>T (p.Leu1429=) rs2137218765
NM_025114.4(CEP290):c.4286T>A (p.Leu1429Gln) rs2137218717
NM_025114.4(CEP290):c.4288A>C (p.Asn1430His) rs749261915
NM_025114.4(CEP290):c.4296A>C (p.Ala1432=) rs2137218338
NM_025114.4(CEP290):c.4296A>G (p.Ala1432=) rs2137218338
NM_025114.4(CEP290):c.4298A>G (p.Gln1433Arg) rs1157241942
NM_025114.4(CEP290):c.4299A>G (p.Gln1433=) rs1457015763
NM_025114.4(CEP290):c.4302+12T>G rs2500015227
NM_025114.4(CEP290):c.4302+13A>G rs2500015192
NM_025114.4(CEP290):c.4302+18T>G
NM_025114.4(CEP290):c.4302+19G>A rs2036573344
NM_025114.4(CEP290):c.4302+8T>C rs374185481
NM_025114.4(CEP290):c.4302+9G>C rs2137217907
NM_025114.4(CEP290):c.4303-16T>C rs2500011983
NM_025114.4(CEP290):c.4303-17A>G
NM_025114.4(CEP290):c.4303-18C>A rs761089675
NM_025114.4(CEP290):c.4303-18C>T rs761089675
NM_025114.4(CEP290):c.4303-6T>C rs2500011780
NM_025114.4(CEP290):c.4305T>C (p.Phe1435=) rs138095601
NM_025114.4(CEP290):c.4322C>G (p.Ser1441Ter) rs2500011110
NM_025114.4(CEP290):c.4326C>T (p.Ile1442=) rs772233823
NM_025114.4(CEP290):c.4365C>A (p.Ile1455=) rs552731286
NM_025114.4(CEP290):c.4366G>A (p.Ala1456Thr) rs375111436
NM_025114.4(CEP290):c.4371A>G (p.Leu1457=) rs2137212322
NM_025114.4(CEP290):c.4373G>C (p.Arg1458Thr) rs2500009581
NM_025114.4(CEP290):c.4380T>A (p.Ile1460=) rs1014763442
NM_025114.4(CEP290):c.4380T>C (p.Ile1460=) rs1014763442
NM_025114.4(CEP290):c.4384G>T (p.Glu1462Ter) rs2500009261
NM_025114.4(CEP290):c.4384del (p.Glu1462fs) rs863225182
NM_025114.4(CEP290):c.438G>A (p.Glu146=) rs2138213152
NM_025114.4(CEP290):c.4402C>T (p.Leu1468=) rs1565838540
NM_025114.4(CEP290):c.4407A>G (p.Glu1469=) rs2137211343
NM_025114.4(CEP290):c.441+11T>C rs2501706636
NM_025114.4(CEP290):c.441+15T>G rs2501706374
NM_025114.4(CEP290):c.441+16T>G
NM_025114.4(CEP290):c.441+17_441+18del
NM_025114.4(CEP290):c.441+18del rs543419084
NM_025114.4(CEP290):c.441+18dup rs543419084
NM_025114.4(CEP290):c.441+1G>A rs1184012636
NM_025114.4(CEP290):c.441+1G>C rs1184012636
NM_025114.4(CEP290):c.441+9C>A
NM_025114.4(CEP290):c.442-11del rs199511358
NM_025114.4(CEP290):c.442-14_442-11del rs199511358
NM_025114.4(CEP290):c.442-15T>G
NM_025114.4(CEP290):c.442-17T>A rs2040048473
NM_025114.4(CEP290):c.442-18T>C rs532622908
NM_025114.4(CEP290):c.442-18_442-17insA
NM_025114.4(CEP290):c.442-19T>C rs113132803
NM_025114.4(CEP290):c.442-19_442-18insA rs1232328623
NM_025114.4(CEP290):c.442-1G>A rs2040047006
NM_025114.4(CEP290):c.442-20T>A rs1463393290
NM_025114.4(CEP290):c.442-22_442-21dup rs199511358
NM_025114.4(CEP290):c.442-22dup rs199511358
NM_025114.4(CEP290):c.442-23_442-20del rs746139755
NM_025114.4(CEP290):c.442-8T>G rs2501546015
NM_025114.4(CEP290):c.4428A>G (p.Ser1476=) rs1206552589
NM_025114.4(CEP290):c.4429C>T (p.Leu1477=) rs2137210634
NM_025114.4(CEP290):c.4435G>T (p.Glu1479Ter)
NM_025114.4(CEP290):c.4437+10A>C rs1222563359
NM_025114.4(CEP290):c.4437+17G>A rs1312510179
NM_025114.4(CEP290):c.4437+19A>G
NM_025114.4(CEP290):c.4437+7A>T rs2137210220
NM_025114.4(CEP290):c.4438-10A>C rs2499992350
NM_025114.4(CEP290):c.4438-12T>C rs1004143005
NM_025114.4(CEP290):c.4438-13_4438-9del rs2499992330
NM_025114.4(CEP290):c.4438-17T>C rs2499992466
NM_025114.4(CEP290):c.4438-20T>A
NM_025114.4(CEP290):c.4438-4G>T rs2036460485
NM_025114.4(CEP290):c.4438-8_4438-7del rs2137190016
NM_025114.4(CEP290):c.4443A>G (p.Leu1481=) rs2036459644
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs) rs780624853
NM_025114.4(CEP290):c.4453G>T (p.Glu1485Ter) rs2499991573
NM_025114.4(CEP290):c.4454A>C (p.Glu1485Ala) rs2036458518
NM_025114.4(CEP290):c.4473A>G (p.Ala1491=) rs2499991242
NM_025114.4(CEP290):c.447T>A (p.Ala149=) rs2138114644
NM_025114.4(CEP290):c.447T>C (p.Ala149=) rs2138114644
NM_025114.4(CEP290):c.4482T>C (p.Asn1494=) rs2137188752
NM_025114.4(CEP290):c.4486C>T (p.Leu1496=) rs1026690396
NM_025114.4(CEP290):c.4488G>A (p.Leu1496=) rs2137188485
NM_025114.4(CEP290):c.448C>T (p.Leu150Phe) rs1162631374
NM_025114.4(CEP290):c.4496A>T (p.Asp1499Val) rs2036455482
NM_025114.4(CEP290):c.4507A>C (p.Asn1503His) rs1410895455
NM_025114.4(CEP290):c.4513C>T (p.Leu1505=) rs1481340734
NM_025114.4(CEP290):c.4515G>A (p.Leu1505=) rs2499989781
NM_025114.4(CEP290):c.4517G>C (p.Arg1506Thr) rs1266234548
NM_025114.4(CEP290):c.4535del (p.Thr1512fs) rs2499989379
NM_025114.4(CEP290):c.4539A>C (p.Ala1513=) rs750049263
NM_025114.4(CEP290):c.4539A>G (p.Ala1513=) rs750049263
NM_025114.4(CEP290):c.4542A>G (p.Glu1514=) rs765011862
NM_025114.4(CEP290):c.4547A>G (p.Glu1516Gly) rs367941106
NM_025114.4(CEP290):c.4551G>A (p.Lys1517=) rs2499988972
NM_025114.4(CEP290):c.4555A>G (p.Ile1519Val) rs200817579
NM_025114.4(CEP290):c.4561G>T (p.Glu1521Ter) rs1475658217
NM_025114.4(CEP290):c.4562dup (p.Leu1522fs) rs2499988736
NM_025114.4(CEP290):c.4566A>C (p.Leu1522=) rs763991371
NM_025114.4(CEP290):c.4576G>T (p.Glu1526Ter) rs1337146202
NM_025114.4(CEP290):c.457G>T (p.Glu153Ter) rs2501544530
NM_025114.4(CEP290):c.4586C>G (p.Pro1529Arg) rs759438587
NM_025114.4(CEP290):c.4590A>G (p.Lys1530=) rs1295512943
NM_025114.4(CEP290):c.45A>G (p.Pro15=) rs1383191175
NM_025114.4(CEP290):c.4600A>C (p.Thr1534Pro) rs2036443574
NM_025114.4(CEP290):c.4604T>C (p.Leu1535Ser) rs2137184439
NM_025114.4(CEP290):c.4614T>G (p.Ala1538=) rs747484394
NM_025114.4(CEP290):c.4614_4615delinsCT (p.His1539Tyr) rs2499987265
NM_025114.4(CEP290):c.4619A>C (p.Gln1540Pro) rs2499987030
NM_025114.4(CEP290):c.4619A>G (p.Gln1540Arg) rs2499987030
NM_025114.4(CEP290):c.4621del (p.Thr1541fs) rs587779733
NM_025114.4(CEP290):c.4629A>C (p.Ala1543=) rs2137183853
NM_025114.4(CEP290):c.462G>A (p.Glu154=) rs1244739752
NM_025114.4(CEP290):c.4634_4637dup (p.Gln1546fs) rs746413821
NM_025114.4(CEP290):c.4638A>G (p.Gln1546=) rs2499986466
NM_025114.4(CEP290):c.4638A>T (p.Gln1546His) rs2499986466
NM_025114.4(CEP290):c.463G>A (p.Ala155Thr) rs2138114070
NM_025114.4(CEP290):c.4642A>G (p.Arg1548Gly)
NM_025114.4(CEP290):c.4644G>A (p.Arg1548=) rs2137183393
NM_025114.4(CEP290):c.4648_4649insCA (p.Asn1550fs) rs2137183334
NM_025114.4(CEP290):c.4650T>C (p.Asn1550=) rs2137183194
NM_025114.4(CEP290):c.4651C>A (p.Gln1551Lys) rs746305733
NM_025114.4(CEP290):c.4651C>T (p.Gln1551Ter) rs746305733
NM_025114.4(CEP290):c.4653A>G (p.Gln1551=) rs2137183063
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del) rs757309583
NM_025114.4(CEP290):c.4656del (p.Glu1553fs) rs62640572
NM_025114.4(CEP290):c.4672A>G (p.Lys1558Glu)
NM_025114.4(CEP290):c.4674G>T (p.Lys1558Asn) rs2499985515
NM_025114.4(CEP290):c.4676A>G (p.Tyr1559Cys) rs2499985482
NM_025114.4(CEP290):c.4677T>C (p.Tyr1559=) rs2137182509
NM_025114.4(CEP290):c.4677T>G (p.Tyr1559Ter) rs2137182509
NM_025114.4(CEP290):c.4682G>A (p.Arg1561His) rs371157150
NM_025114.4(CEP290):c.4682G>C (p.Arg1561Pro) rs371157150
NM_025114.4(CEP290):c.4683T>A (p.Arg1561=) rs2137182194
NM_025114.4(CEP290):c.4683T>C (p.Arg1561=) rs2137182194
NM_025114.4(CEP290):c.4692A>G (p.Glu1564=) rs2137181983
NM_025114.4(CEP290):c.4698C>T (p.Ala1566=)
NM_025114.4(CEP290):c.46G>C (p.Asp16His) rs2040641439
NM_025114.4(CEP290):c.4700G>C (p.Arg1567Thr) rs765514039
NM_025114.4(CEP290):c.4701A>G (p.Arg1567=) rs2137181574
NM_025114.4(CEP290):c.4704+11A>T rs1592836648
NM_025114.4(CEP290):c.4704+12T>C rs2137181292
NM_025114.4(CEP290):c.4704+13_4704+17del rs2036432998
NM_025114.4(CEP290):c.4704+19A>C rs2499984447
NM_025114.4(CEP290):c.4704+1G>A rs1565835538
NM_025114.4(CEP290):c.4704+3A>G rs762149519
NM_025114.4(CEP290):c.4704+7T>C rs2499984665
NM_025114.4(CEP290):c.4705-11C>G
NM_025114.4(CEP290):c.4705-12T>C rs770509074
NM_025114.4(CEP290):c.4705-15T>C rs2499975302
NM_025114.4(CEP290):c.4705-19T>G rs1428499947
NM_025114.4(CEP290):c.4705-2A>C rs2137170380
NM_025114.4(CEP290):c.4705-7A>G rs1367159797
NM_025114.4(CEP290):c.4705G>A (p.Glu1569Lys) rs2137170285
NM_025114.4(CEP290):c.4705G>T (p.Glu1569Ter) rs2137170285
NM_025114.4(CEP290):c.4714G>T (p.Glu1572Ter) rs1292516576
NM_025114.4(CEP290):c.4714_4715del (p.Glu1572fs) rs2499974587
NM_025114.4(CEP290):c.4717A>T (p.Ile1573Phe) rs2499974471
NM_025114.4(CEP290):c.471T>C (p.Asn157=) rs2501543528
NM_025114.4(CEP290):c.4726A>G (p.Lys1576Glu) rs1203769698
NM_025114.4(CEP290):c.4734_4735delinsAT (p.Glu1579Ter)
NM_025114.4(CEP290):c.4737A>G (p.Glu1579=) rs2137169332
NM_025114.4(CEP290):c.4737del (p.Asp1580fs) rs1304430926
NM_025114.4(CEP290):c.4745A>G (p.His1582Arg) rs2499973651
NM_025114.4(CEP290):c.4763T>G (p.Leu1588Ter) rs760653238
NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter) rs62640574
NM_025114.4(CEP290):c.4785A>C (p.Ser1595=) rs2499972753
NM_025114.4(CEP290):c.4785A>G (p.Ser1595=) rs2499972753
NM_025114.4(CEP290):c.4790A>G (p.Asn1597Ser) rs1352598713
NM_025114.4(CEP290):c.4798A>T (p.Lys1600Ter) rs2499972252
NM_025114.4(CEP290):c.4806G>C (p.Thr1602=) rs201614215
NM_025114.4(CEP290):c.4806G>T (p.Thr1602=) rs201614215
NM_025114.4(CEP290):c.4808_4812del (p.Ala1603fs) rs2036372197
NM_025114.4(CEP290):c.4812+15A>T rs1011820485
NM_025114.4(CEP290):c.4812+16C>G
NM_025114.4(CEP290):c.4812+18_4812+19del rs1362916745
NM_025114.4(CEP290):c.4812+1G>A rs2137167420
NM_025114.4(CEP290):c.4812+1G>T rs2137167420
NM_025114.4(CEP290):c.4813-10T>C rs2499962456
NM_025114.4(CEP290):c.4813-1G>C
NM_025114.4(CEP290):c.4813-5T>C rs2137156921
NM_025114.4(CEP290):c.4813-7T>A rs2137156966
NM_025114.4(CEP290):c.4813-9A>G rs1229239400
NM_025114.4(CEP290):c.4815T>C (p.Asp1605=) rs2137156688
NM_025114.4(CEP290):c.4817T>C (p.Leu1606Ser) rs767636506
NM_025114.4(CEP290):c.4819A>T (p.Met1607Leu) rs2499962029
NM_025114.4(CEP290):c.4820dup (p.Met1607fs) rs2499961991
NM_025114.4(CEP290):c.4825C>T (p.Gln1609Ter) rs2137156392
NM_025114.4(CEP290):c.4825_4826del (p.Gln1609fs) rs2499961754
NM_025114.4(CEP290):c.4833C>T (p.Pro1611=) rs763271689
NM_025114.4(CEP290):c.4834_4835del (p.Thr1612fs) rs1207944612
NM_025114.4(CEP290):c.483del (p.Lys161fs) rs2501542597
NM_025114.4(CEP290):c.4840G>T (p.Val1614Phe) rs147714205
NM_025114.4(CEP290):c.4844C>G (p.Pro1615Arg) rs2499960916
NM_025114.4(CEP290):c.4848C>A (p.Thr1616=) rs2036320186
NM_025114.4(CEP290):c.4855dup (p.His1619fs) rs2499960522
NM_025114.4(CEP290):c.4857T>C (p.His1619=) rs1273499608
NM_025114.4(CEP290):c.4864_4865delinsT (p.Arg1622fs) rs2036318355
NM_025114.4(CEP290):c.4867C>T (p.Leu1623=) rs868821370
NM_025114.4(CEP290):c.4877T>C (p.Met1626Thr) rs1413188289
NM_025114.4(CEP290):c.4879G>T (p.Glu1627Ter) rs868148490
NM_025114.4(CEP290):c.4879dup (p.Glu1627fs) rs2499959456
NM_025114.4(CEP290):c.4882C>A (p.Gln1628Lys) rs376493409
NM_025114.4(CEP290):c.4887A>G (p.Thr1629=) rs1179886652
NM_025114.4(CEP290):c.4888G>A (p.Val1630Ile) rs2036315177
NM_025114.4(CEP290):c.4894G>A (p.Glu1632Lys) rs916470951
NM_025114.4(CEP290):c.4897C>T (p.Gln1633Ter) rs1159120623
NM_025114.4(CEP290):c.489A>G (p.Arg163=)
NM_025114.4(CEP290):c.4909_4910del (p.Leu1637fs) rs2499958555
NM_025114.4(CEP290):c.4914C>T (p.Ser1638=) rs2137153390
NM_025114.4(CEP290):c.4916C>A (p.Ser1639Ter) rs2499958316
NM_025114.4(CEP290):c.4923G>T (p.Leu1641Phe) rs1323137920
NM_025114.4(CEP290):c.4926C>A (p.Val1642=) rs766831969
NM_025114.4(CEP290):c.4926C>G (p.Val1642=) rs766831969
NM_025114.4(CEP290):c.4931T>A (p.Leu1644Gln) rs763470977
NM_025114.4(CEP290):c.4943_4944insTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCCACAGCCAATATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAAGTATC (p.Gln1649_Asp1650insTerGln) rs2499957344
NM_025114.4(CEP290):c.4944A>G (p.Ser1648=) rs2499957195
NM_025114.4(CEP290):c.4945C>T (p.Gln1649Ter) rs2137152484
NM_025114.4(CEP290):c.4947A>G (p.Gln1649=) rs2137152427
NM_025114.4(CEP290):c.495+7A>T rs2138113223
NM_025114.4(CEP290):c.495+8dup rs2501541194
NM_025114.4(CEP290):c.495+9T>A rs2138113170
NM_025114.4(CEP290):c.4950T>C (p.Asp1650=) rs1404583172
NM_025114.4(CEP290):c.4954G>T (p.Glu1652Ter) rs2499956762
NM_025114.4(CEP290):c.496-12C>T rs2138102416
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs) rs764309755
NM_025114.4(CEP290):c.4963del (p.Arg1655fs) rs764309755
NM_025114.4(CEP290):c.4966_4967del (p.Glu1656fs) rs756302731
NM_025114.4(CEP290):c.4977A>G (p.Glu1659=) rs2499956019
NM_025114.4(CEP290):c.4983del (p.Lys1661_Val1662insTer) rs879447211
NM_025114.4(CEP290):c.4985_4986del (p.Val1662fs) rs2036306894
NM_025114.4(CEP290):c.4986A>G (p.Val1662=) rs2499955696
NM_025114.4(CEP290):c.4990G>T (p.Glu1664Ter) rs2499955544
NM_025114.4(CEP290):c.4995T>G (p.Phe1665Leu) rs772088416
NM_025114.4(CEP290):c.5002dup (p.Ile1668fs) rs2137151163
NM_025114.4(CEP290):c.5009_5012del (p.Leu1670fs) rs2137150860
NM_025114.4(CEP290):c.5010A>G (p.Leu1670=) rs1264789609
NM_025114.4(CEP290):c.5012+13A>G rs2499954231
NM_025114.4(CEP290):c.5012+19T>C rs2499953999
NM_025114.4(CEP290):c.5012+20T>A rs367796884
NM_025114.4(CEP290):c.5012+20T>C rs367796884
NM_025114.4(CEP290):c.5012+7C>A rs1459836393
NM_025114.4(CEP290):c.5012+7_5012+8del rs2137150584
NM_025114.4(CEP290):c.5013-17_5013-16del rs774225453
NM_025114.4(CEP290):c.5013-1G>A rs2499914261
NM_025114.4(CEP290):c.5013-20C>T rs1299195353
NM_025114.4(CEP290):c.5013-2A>C
NM_025114.4(CEP290):c.5013-30CA[5] rs759447937
NM_025114.4(CEP290):c.5013-30CA[7] rs759447937
NM_025114.4(CEP290):c.5013-6C>T rs2137107114
NM_025114.4(CEP290):c.5013-7A>G rs762217156
NM_025114.4(CEP290):c.5013G>C (p.Gln1671His) rs1173154577
NM_025114.4(CEP290):c.5027A>T (p.His1676Leu) rs375246057
NM_025114.4(CEP290):c.5029_5030del (p.Glu1677fs) rs2036111540
NM_025114.4(CEP290):c.502C>T (p.Arg168Cys) rs760856790
NM_025114.4(CEP290):c.5032G>C (p.Asp1678His) rs2499913826
NM_025114.4(CEP290):c.5033A>T (p.Asp1678Val) rs1174731379
NM_025114.4(CEP290):c.5040G>A (p.Val1680=) rs2137106401
NM_025114.4(CEP290):c.504T>C (p.Arg168=) rs2138101728
NM_025114.4(CEP290):c.5055G>T (p.Ala1685=) rs73192874
NM_025114.4(CEP290):c.5057A>G (p.Glu1686Gly) rs2499913057
NM_025114.4(CEP290):c.5067T>C (p.Asp1689=) rs2137105805
NM_025114.4(CEP290):c.5070A>C (p.Leu1690Phe) rs2499912402
NM_025114.4(CEP290):c.5075A>G (p.Tyr1692Cys) rs1565827486
NM_025114.4(CEP290):c.507A>G (p.Leu169=) rs2138101663
NM_025114.4(CEP290):c.5083G>T (p.Asp1695Tyr) rs1209477107
NM_025114.4(CEP290):c.5086C>G (p.Gln1696Glu) rs2036106218
NM_025114.4(CEP290):c.5086C>T (p.Gln1696Ter) rs2036106218
NM_025114.4(CEP290):c.5091A>G (p.Ser1697=) rs2499911552
NM_025114.4(CEP290):c.5092C>T (p.Gln1698Ter) rs2499911513
NM_025114.4(CEP290):c.5097G>A (p.Lys1699=) rs2499911358
NM_025114.4(CEP290):c.5098G>T (p.Glu1700Ter) rs2499911272
NM_025114.4(CEP290):c.5100G>A (p.Glu1700=) rs2137104806
NM_025114.4(CEP290):c.5101T>C (p.Ser1701Pro) rs2499911141
NM_025114.4(CEP290):c.5103A>G (p.Ser1701=) rs2137104709
NM_025114.4(CEP290):c.5104_5105del (p.Gln1702fs) rs766259648
NM_025114.4(CEP290):c.5109T>C (p.Cys1703=) rs2499910947
NM_025114.4(CEP290):c.5121A>G (p.Glu1707=) rs2137104323
NM_025114.4(CEP290):c.5127_5143del (p.Ala1710fs) rs2137103699
NM_025114.4(CEP290):c.5130T>C (p.Ala1710=) rs2499910380
NM_025114.4(CEP290):c.5130del (p.Gln1711fs) rs2499910412
NM_025114.4(CEP290):c.5134A>G (p.Lys1712Glu) rs1241267572
NM_025114.4(CEP290):c.5136_5139del (p.Glu1713fs) rs995093343
NM_025114.4(CEP290):c.5137G>T (p.Glu1713Ter) rs2499910206
NM_025114.4(CEP290):c.5143A>G (p.Asn1715Asp) rs1565827241
NM_025114.4(CEP290):c.5157A>G (p.Pro1719=) rs1215659876
NM_025114.4(CEP290):c.5158A>G (p.Thr1720Ala) rs1555205391
NM_025114.4(CEP290):c.5159C>G (p.Thr1720Arg) rs927020750
NM_025114.4(CEP290):c.516+10T>G rs2138101103
NM_025114.4(CEP290):c.516+12A>C rs2501515624
NM_025114.4(CEP290):c.516+13G>A rs2501515529
NM_025114.4(CEP290):c.516+19T>A rs912130216
NM_025114.4(CEP290):c.517-18G>T rs2501509370
NM_025114.4(CEP290):c.517-5T>G rs1449231524
NM_025114.4(CEP290):c.5178A>G (p.Leu1726=) rs2137102455
NM_025114.4(CEP290):c.5181A>G (p.Val1727=) rs1002651698
NM_025114.4(CEP290):c.5187G>A (p.Arg1729=) rs2499908436
NM_025114.4(CEP290):c.5190A>G (p.Leu1730=) rs1203367950
NM_025114.4(CEP290):c.5193G>A (p.Lys1731=) rs2137101998
NM_025114.4(CEP290):c.5197C>T (p.Gln1733Ter) rs1367899236
NM_025114.4(CEP290):c.519T>C (p.Asn173=) rs2501508145
NM_025114.4(CEP290):c.51C>T (p.Asp17=) rs2138305629
NM_025114.4(CEP290):c.5203G>A (p.Ala1735Thr) rs2036093152
NM_025114.4(CEP290):c.5204C>T (p.Ala1735Val) rs1311947993
NM_025114.4(CEP290):c.5205C>T (p.Ala1735=) rs2499907830
NM_025114.4(CEP290):c.5212G>T (p.Glu1738Ter) rs1555205328
NM_025114.4(CEP290):c.5217del (p.Lys1739fs) rs2137101209
NM_025114.4(CEP290):c.5218_5226del (p.Gln1740_Lys1742del) rs1565826928
NM_025114.4(CEP290):c.5219A>C (p.Gln1740Pro) rs2499907436
NM_025114.4(CEP290):c.5221C>T (p.Gln1741Ter) rs2499907395
NM_025114.4(CEP290):c.5225A>G (p.Lys1742Arg) rs2499907302
NM_025114.4(CEP290):c.5226+11_5226+13del rs2499906503
NM_025114.4(CEP290):c.5226+12_5226+16del rs2036088937
NM_025114.4(CEP290):c.5226+18A>C rs369678673
NM_025114.4(CEP290):c.5226+5_5226+8del rs1353301232
NM_025114.4(CEP290):c.5226+7A>G rs2036089729
NM_025114.4(CEP290):c.5226+7_5226+8insGAC rs2036089498
NM_025114.4(CEP290):c.5226+9C>G rs2137100623
NM_025114.4(CEP290):c.5226+9C>T rs2137100623
NM_025114.4(CEP290):c.5227-13G>C rs1487172126
NM_025114.4(CEP290):c.5227-14del rs747878752
NM_025114.4(CEP290):c.5227-15T>G rs776442779
NM_025114.4(CEP290):c.5227-23dup rs747878752
NM_025114.4(CEP290):c.5227-2A>G rs367676646
NM_025114.4(CEP290):c.5227-4T>G rs2137083466
NM_025114.4(CEP290):c.5228C>T (p.Ala1743Val) rs951910051
NM_025114.4(CEP290):c.5230C>T (p.Leu1744Phe) rs1391434429
NM_025114.4(CEP290):c.5235_5238del (p.Ser1745fs) rs775969711
NM_025114.4(CEP290):c.5236C>A (p.Arg1746=) rs774427529
NM_025114.4(CEP290):c.5241A>C (p.Ala1747=) rs2499889191
NM_025114.4(CEP290):c.5254C>A (p.Arg1752=) rs748471942
NM_025114.4(CEP290):c.5254C>T (p.Arg1752Trp) rs748471942
NM_025114.4(CEP290):c.5259A>G (p.Ala1753=) rs747328752
NM_025114.4(CEP290):c.525A>G (p.Gln175=) rs2039993836
NM_025114.4(CEP290):c.5263A>G (p.Met1755Val) rs1276102857
NM_025114.4(CEP290):c.5268A>G (p.Thr1756=) rs2499887942
NM_025114.4(CEP290):c.5277T>C (p.Ala1759=) rs2499887481
NM_025114.4(CEP290):c.5277dup (p.Glu1760Ter) rs1158268529
NM_025114.4(CEP290):c.5282A>G (p.Glu1761Gly) rs2499887339
NM_025114.4(CEP290):c.5287A>C (p.Ile1763Leu) rs1394670172
NM_025114.4(CEP290):c.5298A>C (p.Ala1766=) rs2137081487
NM_025114.4(CEP290):c.5299A>G (p.Thr1767Ala) rs1451115875
NM_025114.4(CEP290):c.52C>T (p.Leu18=) rs2138305571
NM_025114.4(CEP290):c.5301T>G (p.Thr1767=) rs891496300
NM_025114.4(CEP290):c.530G>T (p.Cys177Phe) rs2501507223
NM_025114.4(CEP290):c.5313G>A (p.Glu1771=) rs2137081165
NM_025114.4(CEP290):c.5316C>T (p.Ala1772=)
NM_025114.4(CEP290):c.5319T>C (p.His1773=) rs2499886206
NM_025114.4(CEP290):c.5324A>G (p.Asn1775Ser) rs527586777
NM_025114.4(CEP290):c.5325T>C (p.Asn1775=)
NM_025114.4(CEP290):c.5329C>T (p.Gln1777Ter) rs774410421
NM_025114.4(CEP290):c.532C>T (p.Gln178Ter) rs2039993548
NM_025114.4(CEP290):c.5340T>C (p.Val1780=) rs2137080571
NM_025114.4(CEP290):c.5343T>G (p.Asp1781Glu) rs1341571451
NM_025114.4(CEP290):c.5346A>G (p.Arg1782=) rs2499885195
NM_025114.4(CEP290):c.5348_5351del (p.His1783fs) rs2137080156
NM_025114.4(CEP290):c.534G>A (p.Gln178=) rs368025801
NM_025114.4(CEP290):c.5364+14C>A rs529387927
NM_025114.4(CEP290):c.5364+15G>A rs778411377
NM_025114.4(CEP290):c.5364+8T>A rs2137079741
NM_025114.4(CEP290):c.5364+8T>G rs2137079741
NM_025114.4(CEP290):c.5364+9C>T rs2137079700
NM_025114.4(CEP290):c.5365-12T>G rs1489213326
NM_025114.4(CEP290):c.5365-13T>C
NM_025114.4(CEP290):c.5365-17dup rs1265886917
NM_025114.4(CEP290):c.5365-8C>T rs1592808400
NM_025114.4(CEP290):c.5365-9T>C rs2499862468
NM_025114.4(CEP290):c.5366C>T (p.Thr1789Ile) rs2035901966
NM_025114.4(CEP290):c.5387A>C (p.Glu1796Ala) rs2137060627
NM_025114.4(CEP290):c.5391T>C (p.Asn1797=) rs1034544936
NM_025114.4(CEP290):c.5392C>G (p.Leu1798Val) rs1232064286
NM_025114.4(CEP290):c.5409A>G (p.Glu1803=) rs978733367
NM_025114.4(CEP290):c.5415del (p.Thr1807fs) rs1592808035
NM_025114.4(CEP290):c.5416A>T (p.Lys1806Ter) rs2499860456
NM_025114.4(CEP290):c.5418_5422del (p.Lys1806_Thr1807insTer) rs2499860162
NM_025114.4(CEP290):c.5421A>C (p.Thr1807=) rs370464321
NM_025114.4(CEP290):c.5423_5426del (p.Ser1808fs) rs2499859881
NM_025114.4(CEP290):c.5428A>G (p.Asn1810Asp) rs1351470304
NM_025114.4(CEP290):c.5432G>A (p.Arg1811Lys) rs2499859599
NM_025114.4(CEP290):c.5434_5435del (p.Glu1812fs) rs757609119
NM_025114.4(CEP290):c.5439C>T (p.Asn1813=) rs2137059444
NM_025114.4(CEP290):c.5445A>C (p.Leu1815=) rs1401075815
NM_025114.4(CEP290):c.5445_5448del (p.Thr1816fs) rs749331348
NM_025114.4(CEP290):c.5455T>C (p.Leu1819=) rs2035893944
NM_025114.4(CEP290):c.5460T>C (p.Asn1820=) rs2499858744
NM_025114.4(CEP290):c.5468A>G (p.Asn1823Ser) rs769247579
NM_025114.4(CEP290):c.5468_5471del (p.Asn1823fs) rs2499858442
NM_025114.4(CEP290):c.5483A>G (p.Lys1828Arg) rs2035892171
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.5499T>C (p.Tyr1833=) rs2499857418
NM_025114.4(CEP290):c.54G>A (p.Leu18=) rs886049885
NM_025114.4(CEP290):c.54G>C (p.Leu18=) rs886049885
NM_025114.4(CEP290):c.5507T>C (p.Ile1836Thr) rs1211065759
NM_025114.4(CEP290):c.5509_5512del (p.Leu1837fs) rs2499856690
NM_025114.4(CEP290):c.5512dup (p.Arg1838fs) rs1565822519
NM_025114.4(CEP290):c.5515_5518del (p.Glu1839fs) rs281865187
NM_025114.4(CEP290):c.5517G>A (p.Glu1839=) rs2499856409
NM_025114.4(CEP290):c.5529T>A (p.Ile1843=) rs2499856028
NM_025114.4(CEP290):c.552G>A (p.Gln184=) rs2501505218
NM_025114.4(CEP290):c.5538G>A (p.Glu1846=) rs2035887338
NM_025114.4(CEP290):c.5549T>C (p.Leu1850Pro) rs1176131735
NM_025114.4(CEP290):c.5557C>T (p.Gln1853Ter) rs2035884532
NM_025114.4(CEP290):c.5559A>G (p.Gln1853=) rs2035884341
NM_025114.4(CEP290):c.555A>G (p.Lys185=) rs2138097181
NM_025114.4(CEP290):c.5564_5566del (p.Lys1855del) rs756323347
NM_025114.4(CEP290):c.5573C>T (p.Thr1858Ile) rs761261059
NM_025114.4(CEP290):c.5574C>G (p.Thr1858=) rs775652694
NM_025114.4(CEP290):c.5576G>A (p.Ser1859Asn) rs2137056432
NM_025114.4(CEP290):c.5577_5579del (p.Ser1859_Gly1860delinsArg) rs2035881706
NM_025114.4(CEP290):c.5580del (p.Leu1861fs) rs1592807018
NM_025114.4(CEP290):c.5581T>C (p.Leu1861=) rs2499853311
NM_025114.4(CEP290):c.5582T>A (p.Leu1861Ter) rs2137056192
NM_025114.4(CEP290):c.5584C>T (p.Gln1862Ter) rs2499853126
NM_025114.4(CEP290):c.5586+12T>C rs2499852717
NM_025114.4(CEP290):c.5586+14T>G rs2035880486
NM_025114.4(CEP290):c.5586+17C>T rs2137055900
NM_025114.4(CEP290):c.5586+19C>T rs2499852379
NM_025114.4(CEP290):c.5586+1G>C rs2035880971
NM_025114.4(CEP290):c.5586+1G>T rs2035880971
NM_025114.4(CEP290):c.5586+8_5586+9insGATTACAGGTAATTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
NM_025114.4(CEP290):c.5587-10T>A rs1592805772
NM_025114.4(CEP290):c.5587-12T>G rs2499844481
NM_025114.4(CEP290):c.5587-14A>G
NM_025114.4(CEP290):c.5587-14_5588del rs2499844187
NM_025114.4(CEP290):c.5587-15C>T rs2499844570
NM_025114.4(CEP290):c.5587-16dup rs2035856775
NM_025114.4(CEP290):c.5587-19G>A rs2035857040
NM_025114.4(CEP290):c.5587-7T>A rs1172634505
NM_025114.4(CEP290):c.5587-9A>C rs2035856064
NM_025114.4(CEP290):c.558_561del (p.Asp188fs) rs751223288
NM_025114.4(CEP290):c.5596del (p.Pro1865_Leu1866insTer) rs2499843752
NM_025114.4(CEP290):c.5599A>G (p.Thr1867Ala) rs777347446
NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs) rs727503853
NM_025114.4(CEP290):c.5614del (p.Ser1872fs) rs1565821736
NM_025114.4(CEP290):c.5625A>G (p.Glu1875=) rs754796813
NM_025114.4(CEP290):c.5631C>T (p.Leu1877=) rs2137050526
NM_025114.4(CEP290):c.5632C>T (p.Gln1878Ter) rs2137050478
NM_025114.4(CEP290):c.5634A>G (p.Gln1878=) rs2035851225
NM_025114.4(CEP290):c.5648A>C (p.Lys1883Thr) rs2499841448
NM_025114.4(CEP290):c.5649A>G (p.Lys1883=) rs2137050153
NM_025114.4(CEP290):c.5649dup (p.Leu1884fs) rs281865188
NM_025114.4(CEP290):c.5659C>A (p.Gln1887Lys) rs1353100864
NM_025114.4(CEP290):c.5659C>T (p.Gln1887Ter)
NM_025114.4(CEP290):c.5676G>A (p.Val1892=) rs2137049568
NM_025114.4(CEP290):c.5684T>C (p.Val1895Ala) rs764240457
NM_025114.4(CEP290):c.5689C>T (p.Leu1897=) rs2137049271
NM_025114.4(CEP290):c.5691A>G (p.Leu1897=) rs2499839455
NM_025114.4(CEP290):c.5698A>G (p.Met1900Val) rs1415835597
NM_025114.4(CEP290):c.569A>G (p.Gln190Arg) rs2039990572
NM_025114.4(CEP290):c.5709+12A>T rs371010287
NM_025114.4(CEP290):c.5709+14C>A rs2499838174
NM_025114.4(CEP290):c.5709+17A>C rs2499837980
NM_025114.4(CEP290):c.5709+1G>A rs759850328
NM_025114.4(CEP290):c.5709+2T>G rs2499838601
NM_025114.4(CEP290):c.5709+7G>A rs2499838376
NM_025114.4(CEP290):c.5710-18C>A
NM_025114.4(CEP290):c.5710-6T>C rs772896946
NM_025114.4(CEP290):c.5710-7_5710-5del rs2499746416
NM_025114.4(CEP290):c.5714del (p.Ala1905fs) rs2136966486
NM_025114.4(CEP290):c.5715T>C (p.Ala1905=) rs1322010288
NM_025114.4(CEP290):c.5728_5731del (p.Ile1910fs) rs754728136
NM_025114.4(CEP290):c.5733G>A (p.Arg1911=)
NM_025114.4(CEP290):c.5733G>T (p.Arg1911Ser) rs1565813077
NM_025114.4(CEP290):c.5739A>G (p.Glu1913=) rs1387313428
NM_025114.4(CEP290):c.5745T>C (p.Gly1915=) rs2035404611
NM_025114.4(CEP290):c.574_577del (p.Glu192fs) rs2501503340
NM_025114.4(CEP290):c.5750del (p.Lys1917fs) rs2499744612
NM_025114.4(CEP290):c.5754G>A (p.Trp1918Ter) rs2499744201
NM_025114.4(CEP290):c.5757A>G (p.Gln1919=) rs2035403198
NM_025114.4(CEP290):c.5766A>T (p.Ile1922=) rs1027531979
NM_025114.4(CEP290):c.5766_5769del (p.Ile1922fs) rs908238464
NM_025114.4(CEP290):c.5775T>C (p.Ile1925=) rs2499743340
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter) rs561598805
NM_025114.4(CEP290):c.5777G>A (p.Arg1926Gln) rs778030031
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro) rs778030031
NM_025114.4(CEP290):c.5783del (p.Lys1928fs) rs2136964738
NM_025114.4(CEP290):c.5784G>A (p.Lys1928=) rs2136964688
NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter) rs1592784618
NM_025114.4(CEP290):c.5788_5792del (p.Lys1930fs) rs2035400071
NM_025114.4(CEP290):c.5790A>C (p.Lys1930Asn) rs2499742665
NM_025114.4(CEP290):c.5790del (p.Glu1931fs) rs2136964542
NM_025114.4(CEP290):c.5791_5794del (p.Glu1931fs) rs2136964385
NM_025114.4(CEP290):c.5796A>G (p.Lys1932=) rs2499742328
NM_025114.4(CEP290):c.5798_5799del (p.Glu1933fs) rs2035399616
NM_025114.4(CEP290):c.5799G>A (p.Glu1933=) rs2136964287
NM_025114.4(CEP290):c.579_580del (p.Leu194fs) rs2501502939
NM_025114.4(CEP290):c.57C>T (p.Pro19=) rs746614039
NM_025114.4(CEP290):c.5801G>A (p.Gly1934Glu) rs2499742125
NM_025114.4(CEP290):c.5802G>A (p.Gly1934=) rs2499742077
NM_025114.4(CEP290):c.5803G>A (p.Glu1935Lys) rs886042360
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter) rs886042360
NM_025114.4(CEP290):c.5805A>G (p.Glu1935=) rs2136964084
NM_025114.4(CEP290):c.5805A>T (p.Glu1935Asp) rs2136964084
NM_025114.4(CEP290):c.5805dup (p.Val1936fs) rs2499741922
NM_025114.4(CEP290):c.5810T>C (p.Phe1937Ser) rs2035398253
NM_025114.4(CEP290):c.5811T>C (p.Phe1937=) rs1346252811
NM_025114.4(CEP290):c.5813C>T (p.Thr1938Ile) rs2035397823
NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs) rs62638180
NM_025114.4(CEP290):c.5816dup (p.Leu1939fs) rs2499741312
NM_025114.4(CEP290):c.5823G>A (p.Lys1941=) rs2035396901
NM_025114.4(CEP290):c.5824C>A (p.Gln1942Lys) rs763345078
NM_025114.4(CEP290):c.5828del (p.Gln1942_Leu1943insTer) rs2499740973
NM_025114.4(CEP290):c.5829G>A (p.Leu1943=) rs1195022621
NM_025114.4(CEP290):c.5830A>T (p.Asn1944Tyr) rs1014034003
NM_025114.4(CEP290):c.5838G>A (p.Leu1946=) rs2499740676
NM_025114.4(CEP290):c.583T>C (p.Leu195=) rs1429521689
NM_025114.4(CEP290):c.583_584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.5841G>A (p.Lys1947=) rs2136963237
NM_025114.4(CEP290):c.584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.5850del (p.Phe1950fs) rs386834159
NM_025114.4(CEP290):c.5852C>G (p.Ala1951Gly) rs2035394009
NM_025114.4(CEP290):c.5853C>A (p.Ala1951=) rs2136962808
NM_025114.4(CEP290):c.5853C>G (p.Ala1951=) rs2136962808
NM_025114.4(CEP290):c.5853C>T (p.Ala1951=) rs2136962808
NM_025114.4(CEP290):c.5854A>T (p.Lys1952Ter) rs2035393800
NM_025114.4(CEP290):c.5855+11A>G rs776215675
NM_025114.4(CEP290):c.5855+18T>A rs2499739497
NM_025114.4(CEP290):c.5855+18_5855+20del rs1442503417
NM_025114.4(CEP290):c.5856-13T>C rs2499732131
NM_025114.4(CEP290):c.5856-16A>C rs372444243
NM_025114.4(CEP290):c.5856-16A>G rs372444243
NM_025114.4(CEP290):c.5856-16A>T rs372444243
NM_025114.4(CEP290):c.5856-1_5856delinsTT rs2136958216
NM_025114.4(CEP290):c.5856-2A>C rs2499731924
NM_025114.4(CEP290):c.585A>G (p.Leu195=) rs2138096227
NM_025114.4(CEP290):c.5868G>A (p.Glu1956=) rs2499731541
NM_025114.4(CEP290):c.5873T>C (p.Leu1958Pro) rs2136957996
NM_025114.4(CEP290):c.5873_5874del (p.Leu1958fs) rs2035367210
NM_025114.4(CEP290):c.587C>G (p.Ser196Ter) rs2039989513
NM_025114.4(CEP290):c.5889A>G (p.Lys1963=) rs2499730988
NM_025114.4(CEP290):c.5899A>G (p.Thr1967Ala) rs750741976
NM_025114.4(CEP290):c.58C>T (p.Arg20Cys) rs779867970
NM_025114.4(CEP290):c.5901T>C (p.Thr1967=) rs765531923
NM_025114.4(CEP290):c.5910T>C (p.Thr1970=) rs2136957326
NM_025114.4(CEP290):c.5911G>C (p.Val1971Leu) rs2035364656
NM_025114.4(CEP290):c.5925G>A (p.Leu1975=) rs2499729624
NM_025114.4(CEP290):c.5927G>A (p.Gly1976Glu) rs2136956748
NM_025114.4(CEP290):c.5931_5935del (p.Arg1978fs) rs1555201796
NM_025114.4(CEP290):c.5932C>G (p.Arg1978Gly) rs371525247
NM_025114.4(CEP290):c.5942_5943del (p.Glu1981fs)
NM_025114.4(CEP290):c.5943G>A (p.Glu1981=) rs1396645704
NM_025114.4(CEP290):c.5944T>A (p.Ser1982Thr) rs2035360147
NM_025114.4(CEP290):c.594A>G (p.Arg198=) rs2501501270
NM_025114.4(CEP290):c.5952A>G (p.Lys1984=)
NM_025114.4(CEP290):c.5953G>T (p.Glu1985Ter) rs1014354752
NM_025114.4(CEP290):c.5956T>C (p.Leu1986=) rs2499728711
NM_025114.4(CEP290):c.5962G>A (p.Glu1988Lys) rs2035358840
NM_025114.4(CEP290):c.5962G>T (p.Glu1988Ter) rs2035358840
NM_025114.4(CEP290):c.5969A>G (p.Lys1990Arg) rs1373775602
NM_025114.4(CEP290):c.5970A>G (p.Lys1990=) rs1045384235
NM_025114.4(CEP290):c.5972del (p.Lys1991fs) rs1468269366
NM_025114.4(CEP290):c.597_648del (p.Glu200fs) rs2039985700
NM_025114.4(CEP290):c.5995G>C (p.Asp1999His) rs2136955385
NM_025114.4(CEP290):c.5997T>C (p.Asp1999=) rs1181495089
NM_025114.4(CEP290):c.5999T>C (p.Ile2000Thr) rs1592782496
NM_025114.4(CEP290):c.6001T>C (p.Leu2001=) rs112738303
NM_025114.4(CEP290):c.6011+13G>T rs2499726772
NM_025114.4(CEP290):c.6011+14_6011+15del rs1565811649
NM_025114.4(CEP290):c.6011+15G>A rs2499726694
NM_025114.4(CEP290):c.6011+16G>A
NM_025114.4(CEP290):c.6011+2T>G rs2499726960
NM_025114.4(CEP290):c.6011+7dup rs764698078
NM_025114.4(CEP290):c.6012-11G>A rs2499679023
NM_025114.4(CEP290):c.6012-13_6012-12insA rs1565807187
NM_025114.4(CEP290):c.6012-14A>G rs2499679175
NM_025114.4(CEP290):c.6012-18T>C rs2035130236
NM_025114.4(CEP290):c.6012-4A>C rs760029406
NM_025114.4(CEP290):c.6012-4A>G rs760029406
NM_025114.4(CEP290):c.6012-5C>A rs2499678725
NM_025114.4(CEP290):c.6012-9T>C rs2136914044
NM_025114.4(CEP290):c.6012G>A (p.Arg2004=) rs2136913860
NM_025114.4(CEP290):c.6030T>A (p.Pro2010=) rs2499677750
NM_025114.4(CEP290):c.6037T>C (p.Ser2013Pro) rs2136913105
NM_025114.4(CEP290):c.603C>T (p.Asp201=) rs752854214
NM_025114.4(CEP290):c.6042T>C (p.Val2014=) rs2035125225
NM_025114.4(CEP290):c.6043_6053del (p.Val2015fs) rs2035124136
NM_025114.4(CEP290):c.6045AGA[1] (p.Glu2016del) rs1481875615
NM_025114.4(CEP290):c.6054A>G (p.Leu2018=) rs2136912612
NM_025114.4(CEP290):c.6057T>C (p.His2019=) rs747208451
NM_025114.4(CEP290):c.6060A>G (p.Leu2020=) rs2035122755
NM_025114.4(CEP290):c.6062A>C (p.Gln2021Pro) rs2499676707
NM_025114.4(CEP290):c.6067A>C (p.Arg2023=) rs764861728
NM_025114.4(CEP290):c.6076C>T (p.Gln2026Ter) rs2499676199
NM_025114.4(CEP290):c.6079del (p.Glu2027fs) rs2136911634
NM_025114.4(CEP290):c.6083A>G (p.Lys2028Arg) rs749626770
NM_025114.4(CEP290):c.6084A>G (p.Lys2028=) rs2136911467
NM_025114.4(CEP290):c.6084_6085del (p.Lys2028fs) rs2136911405
NM_025114.4(CEP290):c.6087T>A (p.Leu2029=) rs1592770859
NM_025114.4(CEP290):c.6087T>C (p.Leu2029=) rs1592770859
NM_025114.4(CEP290):c.6102A>G (p.Lys2034=) rs752291080
NM_025114.4(CEP290):c.6103del (p.Gln2035fs) rs2136910908
NM_025114.4(CEP290):c.6105G>A (p.Gln2035=) rs754426182
NM_025114.4(CEP290):c.6105G>C (p.Gln2035His) rs754426182
NM_025114.4(CEP290):c.6120A>T (p.Thr2040=) rs766265410
NM_025114.4(CEP290):c.6130C>T (p.Pro2044Ser) rs750159998
NM_025114.4(CEP290):c.6135+10T>C rs371097588
NM_025114.4(CEP290):c.6135+11A>G
NM_025114.4(CEP290):c.6135+12T>A
NM_025114.4(CEP290):c.6135+13C>A
NM_025114.4(CEP290):c.6135+13C>G rs2035112395
NM_025114.4(CEP290):c.6135+15T>C rs2499673866
NM_025114.4(CEP290):c.6135+19T>C rs2499673783
NM_025114.4(CEP290):c.6135+9A>C rs774600024
NM_025114.4(CEP290):c.6135+9A>G rs774600024
NM_025114.4(CEP290):c.6135A>G (p.Ser2045=) rs2035114777
NM_025114.4(CEP290):c.6136-13C>A rs2499621151
NM_025114.4(CEP290):c.6136-6C>G rs2499620939
NM_025114.4(CEP290):c.6136-8C>T rs1047571112
NM_025114.4(CEP290):c.6136A>G (p.Ile2046Val) rs2034703407
NM_025114.4(CEP290):c.6138T>A (p.Ile2046=) rs750969524
NM_025114.4(CEP290):c.613C>G (p.Arg205Gly) rs137852835
NM_025114.4(CEP290):c.6141A>G (p.Ser2047=) rs779553989
NM_025114.4(CEP290):c.6154_6161del (p.Asp2052fs) rs867904492
NM_025114.4(CEP290):c.6156_6159del (p.Asp2053fs) rs2499620281
NM_025114.4(CEP290):c.615A>T (p.Arg205=) rs2501499442
NM_025114.4(CEP290):c.6163T>G (p.Cys2055Gly) rs2136814953
NM_025114.4(CEP290):c.6165T>C (p.Cys2055=) rs2034700190
NM_025114.4(CEP290):c.6170_6173del (p.Arg2057fs) rs2499619686
NM_025114.4(CEP290):c.6175C>T (p.Gln2059Ter) rs2499619599
NM_025114.4(CEP290):c.6187A>T (p.Lys2063Ter) rs2136814350
NM_025114.4(CEP290):c.6192A>G (p.Glu2064=) rs1565798798
NM_025114.4(CEP290):c.6196T>C (p.Leu2066=) rs2136814010
NM_025114.4(CEP290):c.6204G>A (p.Leu2068=) rs2499618886
NM_025114.4(CEP290):c.6207A>T (p.Ser2069=) rs1327169453
NM_025114.4(CEP290):c.620A>G (p.Gln207Arg) rs2138095264
NM_025114.4(CEP290):c.6216T>C (p.Asn2072=) rs2499618648
NM_025114.4(CEP290):c.6223C>G (p.Leu2075Val) rs2499618517
NM_025114.4(CEP290):c.6228A>T (p.Lys2076Asn) rs2136813251
NM_025114.4(CEP290):c.6241C>T (p.Gln2081Ter)
NM_025114.4(CEP290):c.6249_6252del (p.Asn2083fs) rs2499617642
NM_025114.4(CEP290):c.6254A>T (p.Asp2085Val) rs774510171
NM_025114.4(CEP290):c.6258G>A (p.Leu2086=) rs1195491242
NM_025114.4(CEP290):c.6261A>C (p.Pro2087=) rs2136812192
NM_025114.4(CEP290):c.6261A>G (p.Pro2087=) rs2136812192
NM_025114.4(CEP290):c.6264A>G (p.Arg2088=) rs2136812129
NM_025114.4(CEP290):c.6269A>G (p.Lys2090Arg) rs770358437
NM_025114.4(CEP290):c.626del (p.Ser209fs) rs2039987359
NM_025114.4(CEP290):c.6270+12G>A rs2499616589
NM_025114.4(CEP290):c.6270+17T>G rs1473886719
NM_025114.4(CEP290):c.6270+18del rs371141771
NM_025114.4(CEP290):c.6270+19del rs2499616376
NM_025114.4(CEP290):c.6270+1G>T rs1237799214
NM_025114.4(CEP290):c.6270+2T>C rs2499616926
NM_025114.4(CEP290):c.6270+9A>G rs2136811401
NM_025114.4(CEP290):c.6271-11T>C rs2499597871
NM_025114.4(CEP290):c.6271-12_6271-10del
NM_025114.4(CEP290):c.6271-13T>G rs2499597896
NM_025114.4(CEP290):c.6271-14T>G
NM_025114.4(CEP290):c.6271-16G>A rs2499597977
NM_025114.4(CEP290):c.6271-6_6274del rs2034579427
NM_025114.4(CEP290):c.6271-8T>G rs1039146791
NM_025114.4(CEP290):c.6271-9A>T rs1259051617
NM_025114.4(CEP290):c.6291G>A (p.Lys2097=) rs2136785499
NM_025114.4(CEP290):c.6294A>G (p.Glu2098=) rs1213494233
NM_025114.4(CEP290):c.6297G>T (p.Met2099Ile) rs753507165
NM_025114.4(CEP290):c.6311A>C (p.Lys2104Thr) rs763959276
NM_025114.4(CEP290):c.6312_6314del (p.Lys2105del) rs749826807
NM_025114.4(CEP290):c.6324A>G (p.Ala2108=) rs751804638
NM_025114.4(CEP290):c.6336G>A (p.Arg2112=) rs1475220538
NM_025114.4(CEP290):c.6347A>G (p.His2116Arg) rs2499595409
NM_025114.4(CEP290):c.6348T>C (p.His2116=) rs2499595370
NM_025114.4(CEP290):c.6351T>C (p.Val2117=) rs2136784239
NM_025114.4(CEP290):c.6354A>G (p.Arg2118=) rs762397066
NM_025114.4(CEP290):c.6354A>T (p.Arg2118Ser) rs762397066
NM_025114.4(CEP290):c.6357+11A>C rs1214060253
NM_025114.4(CEP290):c.6357+16C>T rs2499594427
NM_025114.4(CEP290):c.6357+17C>T rs747413727
NM_025114.4(CEP290):c.6357+1G>A rs1196938557
NM_025114.4(CEP290):c.6357+20A>G rs7971699
NM_025114.4(CEP290):c.6358-11T>C rs2499572874
NM_025114.4(CEP290):c.6358-13T>C rs1355948965
NM_025114.4(CEP290):c.6358-16del rs769817760
NM_025114.4(CEP290):c.6358-17_6358-10del rs2034440499
NM_025114.4(CEP290):c.6358-18_6358-15del rs2034441485
NM_025114.4(CEP290):c.6358-20T>C rs2499573153
NM_025114.4(CEP290):c.6358-7T>C rs1323070560
NM_025114.4(CEP290):c.635_636insG (p.Asn212fs) rs2501497769
NM_025114.4(CEP290):c.635_636insT (p.Tyr213fs) rs2501497769
NM_025114.4(CEP290):c.635del (p.Asn212fs) rs769091629
NM_025114.4(CEP290):c.635dup (p.Asn212fs) rs769091629
NM_025114.4(CEP290):c.6360dup (p.Gly2121fs) rs2499572404
NM_025114.4(CEP290):c.6363T>C (p.Gly2121=) rs2136752914
NM_025114.4(CEP290):c.6369T>C (p.Ser2123=) rs750473077
NM_025114.4(CEP290):c.6372A>G (p.Gly2124=) rs2499572001
NM_025114.4(CEP290):c.6377_6378del (p.Thr2126fs) rs2499571894
NM_025114.4(CEP290):c.6384A>G (p.Pro2128=) rs2499571593
NM_025114.4(CEP290):c.6387A>G (p.Glu2129=) rs2499571493
NM_025114.4(CEP290):c.6388C>A (p.Leu2130Met) rs1178627897
NM_025114.4(CEP290):c.6388C>T (p.Leu2130=) rs1178627897
NM_025114.4(CEP290):c.6417dup (p.Val2140fs) rs1225676118
NM_025114.4(CEP290):c.6418_6419insC (p.Val2140fs) rs2136751258
NM_025114.4(CEP290):c.6420A>G (p.Val2140=) rs2034432859
NM_025114.4(CEP290):c.6421G>A (p.Val2141Ile) rs2136751097
NM_025114.4(CEP290):c.6424dup (p.Glu2142fs) rs2499570339
NM_025114.4(CEP290):c.642G>A (p.Glu214=) rs2138094419
NM_025114.4(CEP290):c.6432C>A (p.Val2144=) rs2034431774
NM_025114.4(CEP290):c.6433C>G (p.Gln2145Glu) rs747203539
NM_025114.4(CEP290):c.6435G>T (p.Gln2145His) rs1308226735
NM_025114.4(CEP290):c.6438A>G (p.Arg2146=) rs2034430935
NM_025114.4(CEP290):c.6439G>T (p.Glu2147Ter) rs1234975160
NM_025114.4(CEP290):c.6445G>A (p.Glu2149Lys) rs1323758514
NM_025114.4(CEP290):c.6447del (p.Glu2149fs) rs1157238971
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs) rs1364945778
NM_025114.4(CEP290):c.6452T>G (p.Leu2151Trp) rs191613017
NM_025114.4(CEP290):c.6472T>C (p.Leu2158=) rs1592743957
NM_025114.4(CEP290):c.6474G>A (p.Leu2158=) rs2034427417
NM_025114.4(CEP290):c.6487dup (p.Met2163fs) rs2136748724
NM_025114.4(CEP290):c.6489G>A (p.Met2163Ile) rs1017249180
NM_025114.4(CEP290):c.648C>A (p.Ile216=) rs748527265
NM_025114.4(CEP290):c.6497T>C (p.Ile2166Thr) rs1242760376
NM_025114.4(CEP290):c.64GAA[1] (p.Glu23del) rs780211907
NM_025114.4(CEP290):c.6502C>T (p.Gln2168Ter)
NM_025114.4(CEP290):c.6505G>A (p.Glu2169Lys) rs2136748183
NM_025114.4(CEP290):c.6510T>A (p.Asn2170Lys) rs2499567868
NM_025114.4(CEP290):c.6516del (p.Lys2172fs) rs1057519165
NM_025114.4(CEP290):c.6516dup (p.Leu2173fs) rs1057519165
NM_025114.4(CEP290):c.6517T>C (p.Leu2173=) rs2499567642
NM_025114.4(CEP290):c.6522+11_6522+12del rs11405846
NM_025114.4(CEP290):c.6522+11_6522+12dup rs11405846
NM_025114.4(CEP290):c.6522+12T>G
NM_025114.4(CEP290):c.6522+12del rs11405846
NM_025114.4(CEP290):c.6522+14_6522+15insC rs2499567025
NM_025114.4(CEP290):c.6522+18G>C rs1359522025
NM_025114.4(CEP290):c.6522+19A>T rs2499566855
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_025114.4(CEP290):c.6522+6_6522+7insC rs748258476
NM_025114.4(CEP290):c.6522+8_6522+9insA rs2499567271
NM_025114.4(CEP290):c.6523-11T>G
NM_025114.4(CEP290):c.6523-12T>C rs761172645
NM_025114.4(CEP290):c.6523-12dup rs1216267478
NM_025114.4(CEP290):c.6523-13G>T rs976826367
NM_025114.4(CEP290):c.6523-13_6523-10del rs779782832
NM_025114.4(CEP290):c.6523-14T>G rs375105314
NM_025114.4(CEP290):c.6523-17_6523-15del rs751359519
NM_025114.4(CEP290):c.6523-18T>G rs954082831
NM_025114.4(CEP290):c.6523-22_6523-18del rs2034347330
NM_025114.4(CEP290):c.6523-6del rs1216267478
NM_025114.4(CEP290):c.6523-8T>C rs2499552324
NM_025114.4(CEP290):c.6523-9T>G rs2034344628
NM_025114.4(CEP290):c.6537del (p.Lys2179fs) rs2136728464
NM_025114.4(CEP290):c.6538C>T (p.Leu2180Phe) rs1381853150
NM_025114.4(CEP290):c.653A>G (p.Tyr218Cys) rs1443831395
NM_025114.4(CEP290):c.6548A>C (p.His2183Pro) rs2034340081
NM_025114.4(CEP290):c.654T>G (p.Tyr218Ter) rs863225185
NM_025114.4(CEP290):c.6553G>C (p.Gly2185Arg) rs770515697
NM_025114.4(CEP290):c.6561G>A (p.Gln2187=) rs2136727209
NM_025114.4(CEP290):c.6570G>A (p.Met2190Ile) rs1480802620
NM_025114.4(CEP290):c.6572A>G (p.His2191Arg) rs368428115
NM_025114.4(CEP290):c.6579A>G (p.Glu2193=) rs2499550389
NM_025114.4(CEP290):c.6582C>T (p.Ser2194=) rs1592739990
NM_025114.4(CEP290):c.6585G>A (p.Lys2195=) rs2034335512
NM_025114.4(CEP290):c.6588C>T (p.Thr2196=) rs2136726321
NM_025114.4(CEP290):c.6592G>T (p.Gly2198Cys) rs1033637356
NM_025114.4(CEP290):c.6595A>T (p.Thr2199Ser) rs1319582077
NM_025114.4(CEP290):c.6600A>G (p.Glu2200=) rs2136725980
NM_025114.4(CEP290):c.6604del (p.Ile2202fs) rs758329611
NM_025114.4(CEP290):c.6606T>A (p.Ile2202=) rs757449880
NM_025114.4(CEP290):c.6606T>C (p.Ile2202=) rs757449880
NM_025114.4(CEP290):c.661G>T (p.Glu221Ter) rs2138093974
NM_025114.4(CEP290):c.6624G>A (p.Arg2208=) rs777841957
NM_025114.4(CEP290):c.6624del (p.Arg2208fs) rs2136725569
NM_025114.4(CEP290):c.6634G>T (p.Glu2212Ter) rs2034330893
NM_025114.4(CEP290):c.6640A>T (p.Lys2214Ter) rs768065164
NM_025114.4(CEP290):c.6644A>T (p.Lys2215Ile) rs1457236601
NM_025114.4(CEP290):c.6645+4T>A rs2034328716
NM_025114.4(CEP290):c.6645del (p.Glu2216fs) rs2136724878
NM_025114.4(CEP290):c.6646-10T>C rs2136707145
NM_025114.4(CEP290):c.6646-15A>G
NM_025114.4(CEP290):c.6646-16del rs1200834763
NM_025114.4(CEP290):c.6646-17T>C rs2499533132
NM_025114.4(CEP290):c.6646-9T>C rs2499532840
NM_025114.4(CEP290):c.6649A>G (p.Thr2217Ala) rs2034244316
NM_025114.4(CEP290):c.664del (p.Ile222fs) rs2138093868
NM_025114.4(CEP290):c.6653A>G (p.Asp2218Gly) rs2136706903
NM_025114.4(CEP290):c.6662A>C (p.Glu2221Ala) rs2499532128
NM_025114.4(CEP290):c.6672G>A (p.Arg2224=) rs778031524
NM_025114.4(CEP290):c.6686A>G (p.Asn2229Ser) rs2034240934
NM_025114.4(CEP290):c.669+16G>A rs1408808578
NM_025114.4(CEP290):c.669+20A>T rs373119842
NM_025114.4(CEP290):c.669+6del rs761225874
NM_025114.4(CEP290):c.669+6dup rs761225874
NM_025114.4(CEP290):c.669+8G>A rs768408897
NM_025114.4(CEP290):c.669+9G>A rs746701712
NM_025114.4(CEP290):c.669+9G>T rs746701712
NM_025114.4(CEP290):c.6693G>A (p.Glu2231=) rs2136706174
NM_025114.4(CEP290):c.670-13T>C rs1271155425
NM_025114.4(CEP290):c.670-13_670-12del rs941686794
NM_025114.4(CEP290):c.670-3dup rs2039961279
NM_025114.4(CEP290):c.670-7T>G rs2039961462
NM_025114.4(CEP290):c.670-9C>T rs2501478303
NM_025114.4(CEP290):c.6714A>C (p.Thr2238=) rs1293521533
NM_025114.4(CEP290):c.6721C>T (p.Leu2241=) rs2499530483
NM_025114.4(CEP290):c.6734G>A (p.Gly2245Asp) rs766640788
NM_025114.4(CEP290):c.6742T>C (p.Leu2248=) rs2499529861
NM_025114.4(CEP290):c.6744G>A (p.Leu2248=) rs2136705270
NM_025114.4(CEP290):c.6750T>G (p.Phe2250Leu) rs1478489747
NM_025114.4(CEP290):c.6753A>G (p.Ala2251=) rs2136704965
NM_025114.4(CEP290):c.6760dup (p.Arg2254fs) rs2034235109
NM_025114.4(CEP290):c.6764G>A (p.Gly2255Asp) rs377561473
NM_025114.4(CEP290):c.6774T>G (p.Leu2258=) rs2034234195
NM_025114.4(CEP290):c.6777A>G (p.Glu2259=) rs2499528794
NM_025114.4(CEP290):c.6788del (p.Ser2263fs)
NM_025114.4(CEP290):c.6797G>A (p.Trp2266Ter) rs2034232539
NM_025114.4(CEP290):c.679_680del (p.Glu227fs) rs62640578
NM_025114.4(CEP290):c.6804C>G (p.Ser2268=) rs775553764
NM_025114.4(CEP290):c.6817A>G (p.Arg2273Gly)
NM_025114.4(CEP290):c.6818+10G>C rs2499527437
NM_025114.4(CEP290):c.6818+2T>C rs2499527666
NM_025114.4(CEP290):c.6818_6818+1dup rs1060499781
NM_025114.4(CEP290):c.6819-10A>C rs150241790
NM_025114.4(CEP290):c.6819-11T>C rs2136657156
NM_025114.4(CEP290):c.6819-12T>G
NM_025114.4(CEP290):c.6819-15del rs1376803507
NM_025114.4(CEP290):c.6819-15dup rs1376803507
NM_025114.4(CEP290):c.6819-6T>C rs2136656943
NM_025114.4(CEP290):c.6824A>T (p.Tyr2275Phe) rs1179874340
NM_025114.4(CEP290):c.6831C>A (p.Thr2277=) rs2499473001
NM_025114.4(CEP290):c.6831C>T (p.Thr2277=) rs2499473001
NM_025114.4(CEP290):c.6836T>A (p.Leu2279Ter) rs2033943937
NM_025114.4(CEP290):c.6837A>G (p.Leu2279=) rs2136656585
NM_025114.4(CEP290):c.6838A>T (p.Lys2280Ter) rs2499472817
NM_025114.4(CEP290):c.6841G>A (p.Glu2281Lys) rs2136656497
NM_025114.4(CEP290):c.6841G>T (p.Glu2281Ter) rs2136656497
NM_025114.4(CEP290):c.6842A>T (p.Glu2281Val) rs2033943524
NM_025114.4(CEP290):c.6844T>C (p.Leu2282=)
NM_025114.4(CEP290):c.6846G>A (p.Leu2282=) rs2499472597
NM_025114.4(CEP290):c.6847G>A (p.Glu2283Lys) rs2136656424
NM_025114.4(CEP290):c.6869A>G (p.Asn2290Ser) rs2033940025
NM_025114.4(CEP290):c.6869del (p.Asn2290fs) rs587783017
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs) rs587783017
NM_025114.4(CEP290):c.6875G>C (p.Ser2292Thr) rs1241998041
NM_025114.4(CEP290):c.6876C>G (p.Ser2292Arg) rs538590274
NM_025114.4(CEP290):c.6879T>C (p.Ile2293=) rs1592725976
NM_025114.4(CEP290):c.687T>C (p.Asn229=) rs2138087198
NM_025114.4(CEP290):c.6892C>G (p.Gln2298Glu) rs2033937635
NM_025114.4(CEP290):c.6892C>T (p.Gln2298Ter) rs2033937635
NM_025114.4(CEP290):c.6893A>G (p.Gln2298Arg) rs1337960015
NM_025114.4(CEP290):c.6895C>T (p.Leu2299Phe) rs2499470732
NM_025114.4(CEP290):c.6916A>T (p.Arg2306Ter) rs2499470143
NM_025114.4(CEP290):c.6917G>A (p.Arg2306Lys) rs1772781673
NM_025114.4(CEP290):c.6917_6920del (p.Arg2306fs) rs1177923180
NM_025114.4(CEP290):c.6919_6920del (p.Glu2307fs) rs1177923180
NM_025114.4(CEP290):c.6919_6920dup (p.Gln2308fs) rs1177923180
NM_025114.4(CEP290):c.6924A>G (p.Gln2308=) rs2033935023
NM_025114.4(CEP290):c.6927del (p.Val2310fs) rs1441877386
NM_025114.4(CEP290):c.6929T>A (p.Val2310Asp) rs2499469478
NM_025114.4(CEP290):c.6942T>C (p.Asn2314=) rs2136654318
NM_025114.4(CEP290):c.694dup (p.Ile232fs) rs2501476639
NM_025114.4(CEP290):c.6951T>A (p.Leu2317=) rs2499468484
NM_025114.4(CEP290):c.6954A>G (p.Glu2318=) rs2136653946
NM_025114.4(CEP290):c.6959A>T (p.Gln2320Leu) rs780375623
NM_025114.4(CEP290):c.6960+14T>G rs1029688867
NM_025114.4(CEP290):c.6960+5_6960+8del rs2033930168
NM_025114.4(CEP290):c.6960+9C>A rs373226012
NM_025114.4(CEP290):c.6960+9_6960+13del rs2499467648
NM_025114.4(CEP290):c.6961-18T>C rs2499447060
NM_025114.4(CEP290):c.6961-1G>T rs2136637204
NM_025114.4(CEP290):c.6961-3_6965del rs2499446500
NM_025114.4(CEP290):c.6961-5dup rs2033832669
NM_025114.4(CEP290):c.6969T>A (p.Ile2323=) rs2136637133
NM_025114.4(CEP290):c.6970C>T (p.Leu2324Phe) rs1261405954
NM_025114.4(CEP290):c.6972T>C (p.Leu2324=) rs2499446309
NM_025114.4(CEP290):c.6976C>A (p.His2326Asn) rs2136637071
NM_025114.4(CEP290):c.6977A>G (p.His2326Arg) rs2499446173
NM_025114.4(CEP290):c.6981T>C (p.Val2327=) rs2033831271
NM_025114.4(CEP290):c.6985G>T (p.Glu2329Ter)
NM_025114.4(CEP290):c.6987A>G (p.Glu2329=) rs2136636831
NM_025114.4(CEP290):c.698A>G (p.Glu233Gly) rs2138087140
NM_025114.4(CEP290):c.6991G>T (p.Ala2331Ser) rs779626256
NM_025114.4(CEP290):c.6992del (p.Ala2331fs) rs2499445529
NM_025114.4(CEP290):c.6994G>T (p.Glu2332Ter) rs1414041522
NM_025114.4(CEP290):c.6999A>C (p.Thr2333=) rs2499445249
NM_025114.4(CEP290):c.6A>C (p.Pro2=) rs2501866895
NM_025114.4(CEP290):c.7003dup (p.Gln2335fs) rs2499445099
NM_025114.4(CEP290):c.7005A>G (p.Gln2335=) rs1592722143
NM_025114.4(CEP290):c.7007G>A (p.Gly2336Asp) rs863224794
NM_025114.4(CEP290):c.7008C>T (p.Gly2336=) rs2136636238
NM_025114.4(CEP290):c.7015del (p.Arg2339fs) rs2499444567
NM_025114.4(CEP290):c.7016G>T (p.Arg2339Leu) rs1262698711
NM_025114.4(CEP290):c.7021C>A (p.Leu2341Ile)
NM_025114.4(CEP290):c.7031_7034+7delinsAT rs2499443322
NM_025114.4(CEP290):c.7034+13_7034+15del rs2499442866
NM_025114.4(CEP290):c.7034+19T>A rs1410588291
NM_025114.4(CEP290):c.7034+19T>C rs1410588291
NM_025114.4(CEP290):c.7034+8A>C rs1209334887
NM_025114.4(CEP290):c.7034+8A>G rs1209334887
NM_025114.4(CEP290):c.7035-12A>G rs2499429738
NM_025114.4(CEP290):c.7035-14T>C rs2499429836
NM_025114.4(CEP290):c.7035-15A>G rs1456879136
NM_025114.4(CEP290):c.7035-18A>G rs2499429965
NM_025114.4(CEP290):c.7035-7G>T rs2499429562
NM_025114.4(CEP290):c.7035-9G>A rs2136625815
NM_025114.4(CEP290):c.7056T>G (p.Asp2352Glu) rs2033762743
NM_025114.4(CEP290):c.7066G>A (p.Ala2356Thr) rs767697315
NM_025114.4(CEP290):c.7067C>G (p.Ala2356Gly) rs2136624871
NM_025114.4(CEP290):c.7077C>A (p.Ile2359=) rs1459281322
NM_025114.4(CEP290):c.7081C>T (p.Gln2361Ter) rs878896889
NM_025114.4(CEP290):c.7084A>T (p.Ile2362Leu) rs1364454411
NM_025114.4(CEP290):c.7107T>A (p.Ser2369Arg) rs2499426707
NM_025114.4(CEP290):c.7111G>T (p.Ala2371Ser) rs747836241
NM_025114.4(CEP290):c.7113T>C (p.Ala2371=) rs2499426501
NM_025114.4(CEP290):c.7119C>T (p.Ser2373=) rs2136623871
NM_025114.4(CEP290):c.711A>G (p.Gln237=) rs1223559085
NM_025114.4(CEP290):c.7127del (p.Pro2376fs) rs2499426087
NM_025114.4(CEP290):c.7129+10T>C rs2136623387
NM_025114.4(CEP290):c.7129+18dup rs2499425293
NM_025114.4(CEP290):c.7129+20A>G rs1303507745
NM_025114.4(CEP290):c.7129+20_7129+21del rs2499425083
NM_025114.4(CEP290):c.7129+8A>G rs2136623486
NM_025114.4(CEP290):c.7129+9T>G rs61940997
NM_025114.4(CEP290):c.712G>T (p.Glu238Ter) rs2138086844
NM_025114.4(CEP290):c.7130-18G>A rs1258894576
NM_025114.4(CEP290):c.7130-18G>C rs1258894576
NM_025114.4(CEP290):c.7130-1G>A rs2499370007
NM_025114.4(CEP290):c.7130-6C>G rs1267739576
NM_025114.4(CEP290):c.7130-6C>T rs1267739576
NM_025114.4(CEP290):c.7130-8_7130-7del rs1555193620
NM_025114.4(CEP290):c.713A>C (p.Glu238Ala) rs2138086785
NM_025114.4(CEP290):c.7143A>G (p.Leu2381=) rs766938807
NM_025114.4(CEP290):c.7150A>G (p.Lys2384Glu) rs1235516395
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer) rs781310385
NM_025114.4(CEP290):c.7156A>G (p.Lys2386Glu) rs2499368835
NM_025114.4(CEP290):c.7171_7172del (p.Gln2391fs) rs768864797
NM_025114.4(CEP290):c.7173G>A (p.Gln2391=) rs2499368051
NM_025114.4(CEP290):c.7175_7176del (p.Leu2392fs) rs747239148
NM_025114.4(CEP290):c.7176C>A (p.Leu2392=) rs2499367912
NM_025114.4(CEP290):c.7179A>G (p.Lys2393=) rs2136564522
NM_025114.4(CEP290):c.7186G>C (p.Asp2396His) rs189556433
NM_025114.4(CEP290):c.7188T>C (p.Asp2396=) rs1373327829
NM_025114.4(CEP290):c.718A>T (p.Arg240Ter) rs2501474958
NM_025114.4(CEP290):c.7191A>C (p.Leu2397=) rs2499367308
NM_025114.4(CEP290):c.7198C>G (p.Gln2400Glu) rs1478582091
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter) rs1478582091
NM_025114.4(CEP290):c.7209+11_7209+14del rs750259100
NM_025114.4(CEP290):c.7209+11_7209+16del rs1480154927
NM_025114.4(CEP290):c.7209+17T>C
NM_025114.4(CEP290):c.7209+1G>A rs1420974027
NM_025114.4(CEP290):c.7209+2T>G
NM_025114.4(CEP290):c.7209+7T>C rs745813087
NM_025114.4(CEP290):c.7209+7T>G rs745813087
NM_025114.4(CEP290):c.7209+7_7209+10del rs779880515
NM_025114.4(CEP290):c.7209+9_7209+13del rs758075889
NM_025114.4(CEP290):c.7210-14_7210-12dup rs1397674495
NM_025114.4(CEP290):c.7210-18_7210-13del rs753383814
NM_025114.4(CEP290):c.7210-3T>G rs2499344788
NM_025114.4(CEP290):c.7212G>A (p.Glu2404=) rs1592705118
NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs) rs763762899
NM_025114.4(CEP290):c.7233A>G (p.Lys2411=) rs1443360393
NM_025114.4(CEP290):c.7233del (p.Glu2412fs) rs2033254449
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs) rs2033254449
NM_025114.4(CEP290):c.7237C>A (p.Leu2413Met) rs2136547632
NM_025114.4(CEP290):c.7239G>C (p.Leu2413=) rs2136547545
NM_025114.4(CEP290):c.7251T>C (p.Asp2417=) rs2136547270
NM_025114.4(CEP290):c.7256C>T (p.Ser2419Leu) rs2136547201
NM_025114.4(CEP290):c.7257A>C (p.Ser2419=) rs2033251374
NM_025114.4(CEP290):c.725dup (p.Asn242fs) rs1440468666
NM_025114.4(CEP290):c.7263del (p.Phe2421fs) rs1219184437
NM_025114.4(CEP290):c.7263dup (p.Glu2422Ter) rs1219184437
NM_025114.4(CEP290):c.7264G>T (p.Glu2422Ter) rs2136547054
NM_025114.4(CEP290):c.7275A>G (p.Glu2425=) rs2136546932
NM_025114.4(CEP290):c.727T>A (p.Leu243Ile) rs2501474107
NM_025114.4(CEP290):c.7282_7284dup (p.Lys2428_Tyr2429insLys) rs763161211
NM_025114.4(CEP290):c.7282_7286dup (p.Tyr2429Ter) rs2136546576
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter) rs773642187
NM_025114.4(CEP290):c.7284G>A (p.Lys2428=) rs2033247646
NM_025114.4(CEP290):c.7288_7289dup (p.Asn2430fs) rs1482471100
NM_025114.4(CEP290):c.7289_7292dup (p.Tyr2431Ter) rs2136546348
NM_025114.4(CEP290):c.7303G>A (p.Val2435Met) rs2136546112
NM_025114.4(CEP290):c.7305G>C (p.Val2435=) rs745414652
NM_025114.4(CEP290):c.7305GAA[2] (p.Lys2437del) rs768777116
NM_025114.4(CEP290):c.7305GAA[4] (p.Lys2437_Asn2438insLys) rs768777116
NM_025114.4(CEP290):c.7308G>A (p.Lys2436=) rs2136545903
NM_025114.4(CEP290):c.730G>T (p.Glu244Ter) rs2138086329
NM_025114.4(CEP290):c.7314T>C (p.Asn2438=) rs1555193066
NM_025114.4(CEP290):c.7316T>C (p.Ile2439Thr) rs2499340359
NM_025114.4(CEP290):c.7317T>A (p.Ile2439=) rs2499340304
NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs) rs747138345
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs) rs747138345
NM_025114.4(CEP290):c.7329G>A (p.Glu2443=) rs1592704594
NM_025114.4(CEP290):c.732A>G (p.Glu244=) rs2138086280
NM_025114.4(CEP290):c.7331del (p.Lys2444fs) rs2499339598
NM_025114.4(CEP290):c.7341_7344dup (p.Ser2449fs) rs778907433
NM_025114.4(CEP290):c.7341del (p.Lys2447fs) rs281865189
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs) rs281865189
NM_025114.4(CEP290):c.7347A>G (p.Ser2449=) rs1296518157
NM_025114.4(CEP290):c.734_735del (p.Glu245fs) rs1592671672
NM_025114.4(CEP290):c.7354T>C (p.Leu2452=) rs2136544711
NM_025114.4(CEP290):c.7358_7359delinsAG (p.Gly2453Glu) rs2499338004
NM_025114.4(CEP290):c.7366T>C (p.Leu2456=) rs1248803237
NM_025114.4(CEP290):c.7370C>T (p.Thr2457Ile) rs2033234687
NM_025114.4(CEP290):c.7374C>T (p.Ser2458=) rs2499337369
NM_025114.4(CEP290):c.737_738del (p.Ser246fs) rs2039957886
NM_025114.4(CEP290):c.7380T>A (p.Val2460=) rs2499337112
NM_025114.4(CEP290):c.7381GCT[1] (p.Ala2462del) rs1345322609
NM_025114.4(CEP290):c.7386T>G (p.Ala2462=) rs2499336754
NM_025114.4(CEP290):c.7389T>C (p.Ser2463=)
NM_025114.4(CEP290):c.7392_7393insCA (p.Glu2465fs) rs757255407
NM_025114.4(CEP290):c.7393_7395dup (p.Glu2465_Phe2466insGlu) rs2499336386
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs) rs569673313
NM_025114.4(CEP290):c.7394_7397dup (p.Phe2466fs) rs2499336333
NM_025114.4(CEP290):c.7397T>C (p.Phe2466Ser) rs1159836808
NM_025114.4(CEP290):c.7405GAA[2] (p.Glu2471del) rs777398895
NM_025114.4(CEP290):c.7411_7412del (p.Glu2471fs) rs1368325179
NM_025114.4(CEP290):c.7416T>C (p.Ser2472=) rs794727762
NM_025114.4(CEP290):c.741A>G (p.Val247=) rs2138085914
NM_025114.4(CEP290):c.7425T>C (p.Asn2475=) rs2136543130
NM_025114.4(CEP290):c.742C>T (p.Gln248Ter) rs2138085855
NM_025114.4(CEP290):c.7437C>T (p.Tyr2479=) rs2136542833
NM_025114.4(CEP290):c.74C>T (p.Ala25Val) rs1356762631
NM_025114.4(CEP290):c.758_760del (p.Met253del) rs2039956756
NM_025114.4(CEP290):c.75A>G (p.Ala25=) rs2138304637
NM_025114.4(CEP290):c.768A>G (p.Glu256=) rs2501470822
NM_025114.4(CEP290):c.78T>G (p.Asp26Glu) rs2040639110
NM_025114.4(CEP290):c.790G>T (p.Val264Leu) rs1242440672
NM_025114.4(CEP290):c.794A>G (p.His265Arg) rs902444632
NM_025114.4(CEP290):c.802_803del (p.Thr267_Asp268insTer) rs2501468319
NM_025114.4(CEP290):c.810A>G (p.Val270=) rs1463521363
NM_025114.4(CEP290):c.816T>C (p.Asp272=) rs1325063947
NM_025114.4(CEP290):c.816del (p.Gln273fs) rs2501466847
NM_025114.4(CEP290):c.817C>T (p.Gln273Ter) rs1592671313
NM_025114.4(CEP290):c.828del (p.Glu277fs) rs1555225566
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter) rs45502896
NM_025114.4(CEP290):c.832_852+19del rs2138082472
NM_025114.4(CEP290):c.833_836dup (p.Asp279fs) rs1489175048
NM_025114.4(CEP290):c.835G>T (p.Asp279Tyr) rs796540607
NM_025114.4(CEP290):c.837T>C (p.Asp279=) rs2501464041
NM_025114.4(CEP290):c.839A>G (p.His280Arg) rs745369780
NM_025114.4(CEP290):c.843_845del (p.Tyr281_Gln282delinsTer) rs2138083048
NM_025114.4(CEP290):c.846A>G (p.Gln282=) rs2501463144
NM_025114.4(CEP290):c.84del (p.Leu28fs) rs2501862857
NM_025114.4(CEP290):c.850C>G (p.Gln284Glu) rs2501462993
NM_025114.4(CEP290):c.850C>T (p.Gln284Ter) rs2501462993
NM_025114.4(CEP290):c.852+10A>C rs1191374264
NM_025114.4(CEP290):c.852+10A>G rs1191374264
NM_025114.4(CEP290):c.852+11C>A rs1408321407
NM_025114.4(CEP290):c.852+16A>G rs2138082584
NM_025114.4(CEP290):c.852+7A>G rs1470348762
NM_025114.4(CEP290):c.852A>T (p.Gln284His) rs1592671091
NM_025114.4(CEP290):c.853-10del rs201265955
NM_025114.4(CEP290):c.853-12T>G
NM_025114.4(CEP290):c.853-12_853-11insA rs71082425
NM_025114.4(CEP290):c.853-14del rs2501434663
NM_025114.4(CEP290):c.853-16T>C rs2501434751
NM_025114.4(CEP290):c.853-18A>C rs2138072197
NM_025114.4(CEP290):c.853-20G>C rs1565913252
NM_025114.4(CEP290):c.853-2A>T rs2039902653
NM_025114.4(CEP290):c.853-7C>A rs2138071676
NM_025114.4(CEP290):c.858G>A (p.Gln286=) rs2501432001
NM_025114.4(CEP290):c.864T>A (p.Leu288=) rs758713139
NM_025114.4(CEP290):c.867A>C (p.Thr289=) rs2138071158
NM_025114.4(CEP290):c.871C>A (p.Leu291Ile) rs2501430974
NM_025114.4(CEP290):c.881C>A (p.Ser294Ter) rs1592668925
NM_025114.4(CEP290):c.888T>C (p.Asn296=) rs750455700
NM_025114.4(CEP290):c.894A>C (p.Glu298Asp) rs2039900054
NM_025114.4(CEP290):c.894A>T (p.Glu298Asp) rs2039900054
NM_025114.4(CEP290):c.895G>A (p.Asp299Asn) rs762372051
NM_025114.4(CEP290):c.897T>C (p.Asp299=) rs2501428816
NM_025114.4(CEP290):c.898G>A (p.Asp300Asn) rs754420383
NM_025114.4(CEP290):c.916G>T (p.Val306Phe) rs558949569
NM_025114.4(CEP290):c.918C>T (p.Val306=) rs1592668759
NM_025114.4(CEP290):c.93C>G (p.Ser31=) rs375955381
NM_025114.4(CEP290):c.942+11del rs558914208
NM_025114.4(CEP290):c.942+13A>G rs2039895978
NM_025114.4(CEP290):c.942+1G>A rs2039897317
NM_025114.4(CEP290):c.942+1G>C rs2039897317
NM_025114.4(CEP290):c.942+4dup rs558914208
NM_025114.4(CEP290):c.943-14G>T rs1250462482
NM_025114.4(CEP290):c.943-16T>C rs764693893
NM_025114.4(CEP290):c.943-1G>A rs2138025029
NM_025114.4(CEP290):c.943-1G>C rs2138025029
NM_025114.4(CEP290):c.943-4C>G rs199770158
NM_025114.4(CEP290):c.943-9T>C
NM_025114.4(CEP290):c.948T>C (p.Ile316=) rs767967987
NM_025114.4(CEP290):c.948T>G (p.Ile316Met) rs767967987
NM_025114.4(CEP290):c.955del (p.Ser319fs) rs764507012
NM_025114.4(CEP290):c.961G>A (p.Asp321Asn) rs2138024512
NM_025114.4(CEP290):c.962A>T (p.Asp321Val) rs759074453
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu) rs774072453
NM_025114.4(CEP290):c.966T>C (p.Asp322=) rs762450740
NM_025114.4(CEP290):c.976_979del (p.Glu326fs) rs1231036283
NM_025114.4(CEP290):c.983A>C (p.Gln328Pro) rs2501335928
NM_025114.4(CEP290):c.985C>T (p.Gln329Ter) rs2138023519
NM_025114.4(CEP290):c.993A>G (p.Leu331=) rs2501335103
NM_025114.4(CEP290):c.994C>T (p.His332Tyr) rs768520045
NM_025114.4(CEP290):c.99C>T (p.Ser33=) rs866917306

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