ClinVar Miner

List of variants in gene CEP290

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Gene type:
ClinVar version:
Total variants: 3498
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.6960+257T>C rs2468242 0.92704
NM_025114.4(CEP290):c.6645+67G>A rs2471512 0.92687
NM_025114.4(CEP290):c.4195-348C>T rs2468249 0.89010
NM_025114.4(CEP290):c.943-213G>A rs2471521 0.87693
NM_025114.4(CEP290):c.1066-255T>C rs2468260 0.87677
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425 0.87640
NM_025114.4(CEP290):c.2818-50G>C rs2471532 0.76931
NM_025114.4(CEP290):c.5227-43G>A rs2468245 0.76925
NM_025114.4(CEP290):c.1824+368T>G rs2960425 0.76923
NM_025114.4(CEP290):c.4704+281G>A rs2468248 0.76918
NM_025114.4(CEP290):c.942+271A>G rs2471520 0.76896
NM_025114.4(CEP290):c.-28+101C>T rs2468222 0.74729
NM_025114.4(CEP290):c.2991+1897G>A rs2471534 0.50509
NM_025114.4(CEP290):c.-27-188dup rs71082427 0.50493
NM_025114.4(CEP290):c.2991+205T>C rs10466971 0.30254
NM_025114.4(CEP290):c.6646-275T>C rs12426625 0.13876
NM_025114.4(CEP290):c.6961-138A>T rs17418744 0.12927
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
NM_025114.4(CEP290):c.5227-301A>C rs59247112 0.10763
NM_025114.4(CEP290):c.1824+81T>G rs190820871 0.10429
NM_025114.4(CEP290):c.496-269G>T rs7310461 0.09932
NM_025114.4(CEP290):c.2217+135A>T rs78143067 0.09910
NM_025114.4(CEP290):c.4705-257A>G rs11104732 0.08006
NM_025114.4(CEP290):c.1360-65A>T rs11104741 0.07517
NM_025114.4(CEP290):c.1189+257A>C rs28393959 0.07511
NM_025114.4(CEP290):c.6645+184T>A rs73207079 0.07320
NM_025114.4(CEP290):c.6960+64A>G rs76663684 0.05574
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793 0.05381
NM_025114.4(CEP290):c.1910-207G>A rs7952847 0.05378
NM_025114.4(CEP290):c.2052+268A>G rs60380764 0.05370
NM_025114.4(CEP290):c.5709+18C>A rs7973969 0.05367
NM_025114.4(CEP290):c.5587-98A>G rs7960861 0.05359
NM_025114.4(CEP290):c.442-19T>A rs113132803 0.05334
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738 0.05247
NM_025114.4(CEP290):c.942+28T>C rs56149649 0.04349
NM_025114.4(CEP290):c.7130-129A>G rs59691324 0.04347
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp) rs7970228 0.04262
NM_025114.4(CEP290):c.3309+225T>G rs76560287 0.04257
NM_025114.4(CEP290):c.442-85C>T rs115764060 0.04025
NM_025114.4(CEP290):c.5709+25A>C rs17015438 0.03950
NM_025114.4(CEP290):c.3573+187C>A rs112112148 0.03946
NM_025114.4(CEP290):c.2483+226G>A rs79549870 0.03740
NM_025114.4(CEP290):c.7035-38C>G rs45477492 0.03735
NM_025114.4(CEP290):c.2368-37T>G rs115837670 0.03623
NM_025114.4(CEP290):c.4704+314A>T rs17015443 0.03598
NM_025114.4(CEP290):c.1066-200A>G rs17335506 0.02972
NM_025114.4(CEP290):c.5012+142A>G rs78015808 0.02918
NM_025114.4(CEP290):c.297+36A>G rs45468703 0.02898
NM_025114.4(CEP290):c.1189+91T>C rs116707638 0.02525
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459 0.02390
NM_025114.4(CEP290):c.670-116A>G rs77623866 0.02275
NM_025114.4(CEP290):c.6270+248T>C rs117508700 0.02206
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.3462-286A>G rs77707234 0.01976
NM_025114.4(CEP290):c.-27-56A>C rs28636672 0.01737
NM_025114.4(CEP290):c.3573+318A>G rs116467530 0.01635
NM_025114.4(CEP290):c.6136-254G>C rs80192319 0.01609
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_025114.4(CEP290):c.181-249G>A rs116692715 0.01505
NM_025114.4(CEP290):c.251-93A>G rs111437173 0.01295
NM_025114.4(CEP290):c.2817+48A>G rs76460170 0.01228
NM_025114.4(CEP290):c.298-301C>T rs80213495 0.01225
NM_025114.4(CEP290):c.7035-140T>C rs150353864 0.01189
NM_025114.4(CEP290):c.2991+208A>G rs114745585 0.01111
NM_025114.4(CEP290):c.4437+324T>G rs115578573 0.00920
NM_025114.4(CEP290):c.181-288G>A rs141907559 0.00896
NM_025114.4(CEP290):c.-33G>T rs139415563 0.00894
NM_025114.4(CEP290):c.4195-340G>A rs115471416 0.00825
NM_025114.4(CEP290):c.7034+275G>A rs74338819 0.00821
NM_025114.4(CEP290):c.5710-159C>T rs115166743 0.00820
NM_025114.4(CEP290):c.6358-291C>A rs114526714 0.00819
NM_025114.4(CEP290):c.7130-73G>A rs114725040 0.00819
NM_025114.4(CEP290):c.1909+179G>C rs75511160 0.00817
NM_025114.4(CEP290):c.3462-215A>G rs77508014 0.00817
NM_025114.4(CEP290):c.6011+160_6011+161insAT rs145898720 0.00817
NM_025114.4(CEP290):c.2367+63G>A rs75731877 0.00816
NM_025114.4(CEP290):c.442-250T>C rs143450226 0.00816
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=) rs150138016 0.00815
NM_025114.4(CEP290):c.6645+211C>T rs142591645 0.00815
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=) rs79644671 0.00740
NM_025114.4(CEP290):c.4195-341C>T rs149499240 0.00735
NM_025114.4(CEP290):c.1624-5T>C rs142742071 0.00704
NM_025114.4(CEP290):c.6136-109C>T rs76564263 0.00681
NM_025114.4(CEP290):c.4438-253C>T rs75939111 0.00680
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808 0.00678
NM_025114.4(CEP290):c.2217+45T>C rs45461003 0.00636
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu) rs147371999 0.00585
NM_025114.4(CEP290):c.853-197C>G rs147937851 0.00584
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_025114.4(CEP290):c.1824+72C>T rs565542317 0.00565
NM_025114.4(CEP290):c.853-276A>G rs12298094 0.00527
NM_025114.4(CEP290):c.2991+39A>G rs147626659 0.00519
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00488
NM_025114.4(CEP290):c.1523-162G>A rs138019050 0.00479
NM_025114.4(CEP290):c.5226+231C>T rs146237577 0.00479
NM_025114.4(CEP290):c.6012-98C>T rs141714178 0.00466
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729 0.00463
NM_025114.4(CEP290):c.7129+157T>C rs140267645 0.00462
NM_025114.4(CEP290):c.180+181A>G rs115165018 0.00460
NM_025114.4(CEP290):c.3573+227C>T rs148047873 0.00432
NM_025114.4(CEP290):c.1825-165G>A rs115517765 0.00408
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_025114.4(CEP290):c.1711+251T>G rs116932106 0.00378
NM_025114.4(CEP290):c.1522+6C>T rs148446546 0.00371
NM_025114.4(CEP290):c.6136-123G>A rs144023799 0.00345
NM_025114.4(CEP290):c.7129+105A>G rs114920093 0.00339
NM_025114.4(CEP290):c.1066-111C>T rs141158869 0.00335
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.496-118A>C rs114866189 0.00300
NM_025114.4(CEP290):c.496-195A>G rs76233478 0.00298
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459 0.00241
NM_025114.4(CEP290):c.7034+40T>A rs184044181 0.00232
NM_025114.4(CEP290):c.251-11T>A rs200666995 0.00198
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.3573+215G>A rs374887934 0.00153
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly) rs200211587 0.00146
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn) rs184143186 0.00138
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492 0.00133
NM_025114.4(CEP290):c.2368-36T>G rs547843877 0.00108
NM_025114.4(CEP290):c.1716A>G (p.Leu572=) rs372349042 0.00107
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=) rs181248369 0.00106
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=) rs201614215 0.00091
NM_025114.4(CEP290):c.2487A>G (p.Glu829=) rs371159780 0.00080
NM_025114.4(CEP290):c.6646-16T>C rs367543543 0.00076
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.5013-21A>G rs368215443 0.00066
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.226G>A (p.Ala76Thr) rs373913704 0.00059
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433 0.00058
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr) rs199583200 0.00055
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582 0.00054
NM_025114.4(CEP290):c.4705-18C>T rs199751805 0.00052
NM_025114.4(CEP290):c.6136-19T>G rs377613416 0.00050
NM_025114.4(CEP290):c.2667G>T (p.Leu889Phe) rs142038791 0.00049
NM_025114.4(CEP290):c.2595C>T (p.Leu865=) rs114632733 0.00046
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_025114.3(CEP290):c.-235T>G rs569632834 0.00045
NM_025114.4(CEP290):c.1360-4T>G rs200328638 0.00040
NM_025114.4(CEP290):c.943-4C>T rs199770158 0.00037
NM_025114.4(CEP290):c.943-8A>T rs200729812 0.00037
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val) rs201569048 0.00036
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn) rs199747962 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.5226+19T>C rs547955106 0.00031
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946 0.00030
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
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_025114.3(CEP290):c.-295T>C rs374616539 0.00026
NM_025114.4(CEP290):c.1742A>C (p.Glu581Ala) rs77579747 0.00025
NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn) rs201982308 0.00024
NM_025114.4(CEP290):c.4182G>A (p.Val1394=) rs371530941 0.00024
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys) rs374852145 0.00024
NM_025114.4(CEP290):c.2615C>T (p.Ser872Leu) rs373341530 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.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.1729C>T (p.Leu577=) rs201295052 0.00020
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly) rs184323010 0.00020
NM_025114.4(CEP290):c.853-9G>A rs974759127 0.00020
NM_025114.4(CEP290):c.-147A>T rs753567406 0.00019
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.4360G>A (p.Glu1454Lys) rs369902368 0.00018
NM_025114.4(CEP290):c.1918T>C (p.Leu640=) rs541138095 0.00017
NM_025114.4(CEP290):c.384T>C (p.Asp128=) rs76267039 0.00017
NM_025114.4(CEP290):c.3955T>C (p.Leu1319=) rs182851622 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.6522+15T>C rs1050903820 0.00015
NM_025114.4(CEP290):c.3135A>G (p.Lys1045=) rs370622537 0.00014
NM_025114.4(CEP290):c.3442C>G (p.Leu1148Val) rs372190684 0.00014
NM_025114.4(CEP290):c.4317A>C (p.Thr1439=) rs375966721 0.00014
NM_025114.4(CEP290):c.7075A>C (p.Ile2359Leu) rs183387506 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.5338G>A (p.Val1780Ile) rs368492668 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.4978T>A (p.Leu1660Ile) rs372557655 0.00012
NM_025114.4(CEP290):c.5125C>A (p.Gln1709Lys) rs367580207 0.00012
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val) rs183071230 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.3195G>A (p.Lys1065=) rs778596948 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.6572A>T (p.His2191Leu) rs368428115 0.00011
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His) rs371833544 0.00011
NM_025114.4(CEP290):c.6960+9C>T rs373226012 0.00011
NM_025114.4(CEP290):c.93C>T (p.Ser31=) rs375955381 0.00011
NM_025114.4(CEP290):c.298-15G>T rs756197493 0.00010
NM_025114.4(CEP290):c.3773A>G (p.Asn1258Ser) rs200830750 0.00010
NM_025114.4(CEP290):c.4438-13T>C rs528298900 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.6806T>C (p.Ile2269Thr) rs200090371 0.00010
NM_025114.4(CEP290):c.1523-6T>C rs755202424 0.00009
NM_025114.4(CEP290):c.1825-8T>G rs769405843 0.00009
NM_025114.4(CEP290):c.2098C>T (p.His700Tyr) rs369104382 0.00009
NM_025114.4(CEP290):c.4437+1G>A rs760915898 0.00009
NM_025114.4(CEP290):c.4577A>T (p.Glu1526Val) rs760625332 0.00009
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 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.1360-10T>C rs372180862 0.00008
NM_025114.4(CEP290):c.4343C>G (p.Pro1448Arg) rs757356455 0.00008
NM_025114.4(CEP290):c.6986A>G (p.Glu2329Gly) rs772648931 0.00008
NM_025114.4(CEP290):c.974T>C (p.Ile325Thr) rs769705837 0.00008
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) rs140236736 0.00007
NM_025114.4(CEP290):c.3486C>T (p.Ala1162=) rs376583223 0.00007
NM_025114.4(CEP290):c.3778G>A (p.Ala1260Thr) rs375609644 0.00007
NM_025114.4(CEP290):c.4695A>G (p.Lys1565=) rs189871589 0.00007
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409 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.6646-11T>G rs1431021703 0.00007
NM_025114.4(CEP290):c.-41C>T rs759820573 0.00006
NM_025114.4(CEP290):c.1440A>G (p.Glu480=) rs777299440 0.00006
NM_025114.4(CEP290):c.1712-14T>A rs765835575 0.00006
NM_025114.4(CEP290):c.189T>C (p.Ala63=) rs996908777 0.00006
NM_025114.4(CEP290):c.2546A>T (p.Asp849Val) rs1313832672 0.00006
NM_025114.4(CEP290):c.2616G>A (p.Ser872=) rs776360559 0.00006
NM_025114.4(CEP290):c.3564A>G (p.Leu1188=) rs900618917 0.00006
NM_025114.4(CEP290):c.3573+3A>G rs199520739 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.5227-9A>G rs571981633 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.6023C>T (p.Ala2008Val) rs376307540 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.6522+7T>G rs754878322 0.00006
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_025114.4(CEP290):c.6909A>C (p.Ala2303=) rs774138995 0.00006
NM_025114.4(CEP290):c.755A>T (p.Lys252Met) rs991079890 0.00006
NM_025114.4(CEP290):c.1105G>A (p.Glu369Lys) rs373414042 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.4186C>G (p.Gln1396Glu) rs1459653241 0.00005
NM_025114.4(CEP290):c.441+18T>C rs756876705 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.6358-4G>A rs369154492 0.00005
NM_025114.4(CEP290):c.998A>C (p.Asn333Thr) rs376033047 0.00005
NM_025114.4(CEP290):c.-96C>T rs528270888 0.00004
NM_025114.4(CEP290):c.1104C>T (p.Thr368=) rs483352755 0.00004
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.1945G>A (p.Glu649Lys) rs761705359 0.00004
NM_025114.4(CEP290):c.204G>A (p.Leu68=) rs780930630 0.00004
NM_025114.4(CEP290):c.2129G>C (p.Gly710Ala) rs969763835 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.3273G>A (p.Glu1091=) rs771584252 0.00004
NM_025114.4(CEP290):c.332G>A (p.Arg111Gln) rs562747993 0.00004
NM_025114.4(CEP290):c.3462-11T>C rs1296210160 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.3810A>G (p.Leu1270=) rs769060806 0.00004
NM_025114.4(CEP290):c.4064G>A (p.Arg1355His) rs548558619 0.00004
NM_025114.4(CEP290):c.4132A>G (p.Ile1378Val) rs532041890 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.508A>T (p.Lys170Ter) rs772170760 0.00004
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter) rs370119681 0.00004
NM_025114.4(CEP290):c.5186G>A (p.Arg1729Gln) rs535531689 0.00004
NM_025114.4(CEP290):c.5665G>C (p.Glu1889Gln) rs186330724 0.00004
NM_025114.4(CEP290):c.5724A>C (p.Glu1908Asp) rs769370948 0.00004
NM_025114.4(CEP290):c.5896A>G (p.Thr1966Ala) rs780570235 0.00004
NM_025114.4(CEP290):c.609C>T (p.Asp203=) rs767725492 0.00004
NM_025114.4(CEP290):c.6191A>G (p.Glu2064Gly) rs987259388 0.00004
NM_025114.4(CEP290):c.7073_7077dup (p.His2360Ter) rs1294402003 0.00004
NM_025114.4(CEP290):c.7079A>C (p.His2360Pro) rs1006780282 0.00004
NM_025114.4(CEP290):c.814G>A (p.Asp272Asn) rs866480852 0.00004
NM_025114.4(CEP290):c.1192G>T (p.Ala398Ser) rs764079993 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.1523-412C>T rs1381940328 0.00003
NM_025114.4(CEP290):c.1669C>T (p.Arg557Cys) rs561018129 0.00003
NM_025114.4(CEP290):c.1877G>A (p.Ser626Asn) rs746124813 0.00003
NM_025114.4(CEP290):c.2029C>T (p.Pro677Ser) rs375523390 0.00003
NM_025114.4(CEP290):c.2267C>T (p.Ser756Leu) rs761111801 0.00003
NM_025114.4(CEP290):c.2367+4T>C rs1413934261 0.00003
NM_025114.4(CEP290):c.2368-7T>C rs1470044444 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.3178A>G (p.Thr1060Ala) rs948383352 0.00003
NM_025114.4(CEP290):c.3246C>T (p.His1082=) rs539042966 0.00003
NM_025114.4(CEP290):c.3310-48C>A rs764488172 0.00003
NM_025114.4(CEP290):c.3310-7T>G rs373298179 0.00003
NM_025114.4(CEP290):c.3462-12A>G rs778134699 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.442-20_442-19insA rs772322663 0.00003
NM_025114.4(CEP290):c.4438-7A>G rs764079476 0.00003
NM_025114.4(CEP290):c.4704+16A>G rs559388032 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.514A>C (p.Lys172Gln) rs765944337 0.00003
NM_025114.4(CEP290):c.5271A>C (p.Ala1757=) rs368906813 0.00003
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter) rs575767207 0.00003
NM_025114.4(CEP290):c.534G>T (p.Gln178His) rs368025801 0.00003
NM_025114.4(CEP290):c.5552A>T (p.Lys1851Ile) rs372565248 0.00003
NM_025114.4(CEP290):c.5570T>C (p.Leu1857Pro) rs1485169564 0.00003
NM_025114.4(CEP290):c.5745dup (p.Lys1916Ter) rs751361090 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.6090T>C (p.His2030=) rs1055944923 0.00003
NM_025114.4(CEP290):c.6523-6T>C rs794727692 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.7126C>T (p.Pro2376Ser) rs754462052 0.00003
NM_025114.4(CEP290):c.852+14T>C rs571313482 0.00003
NM_025114.4(CEP290):c.1035T>C (p.Ala345=) rs778053081 0.00002
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.1078C>T (p.Arg360Ter) rs776645403 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.1235C>T (p.Thr412Met) rs189280108 0.00002
NM_025114.4(CEP290):c.1288G>C (p.Ala430Pro) rs767366207 0.00002
NM_025114.4(CEP290):c.1448C>T (p.Thr483Ile) rs373303674 0.00002
NM_025114.4(CEP290):c.1460A>G (p.Asn487Ser) rs1331263277 0.00002
NM_025114.4(CEP290):c.1522+17G>C rs1269048571 0.00002
NM_025114.4(CEP290):c.1549T>C (p.Leu517=) rs752942122 0.00002
NM_025114.4(CEP290):c.1677G>C (p.Met559Ile) rs1000099371 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.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.2249T>G (p.Leu750Ter) rs137852833 0.00002
NM_025114.4(CEP290):c.2273T>C (p.Val758Ala) rs369868981 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.3056A>G (p.Glu1019Gly) rs746666486 0.00002
NM_025114.4(CEP290):c.3124A>G (p.Lys1042Glu) rs1468626083 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.367C>T (p.Gln123Ter) rs770126103 0.00002
NM_025114.4(CEP290):c.3708dup (p.Arg1237fs) rs758991387 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.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.4391T>C (p.Ile1464Thr) rs761761702 0.00002
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286 0.00002
NM_025114.4(CEP290):c.4394G>A (p.Arg1465Gln) rs576877716 0.00002
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750 0.00002
NM_025114.4(CEP290):c.4881A>G (p.Glu1627=) rs778794581 0.00002
NM_025114.4(CEP290):c.495+17G>T rs181956234 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.5112A>G (p.Leu1704=) rs758459529 0.00002
NM_025114.4(CEP290):c.5129C>T (p.Ala1710Val) rs754184488 0.00002
NM_025114.4(CEP290):c.5211G>A (p.Lys1737=) rs747996508 0.00002
NM_025114.4(CEP290):c.5285G>A (p.Arg1762His) rs761763799 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.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.6012-12T>A rs752197734 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.6444T>C (p.Asn2148=) rs368101871 0.00002
NM_025114.4(CEP290):c.6522+6_6522+7insA rs748258476 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.6798G>A (p.Trp2266Ter) rs760540562 0.00002
NM_025114.4(CEP290):c.6818+9A>G rs748162184 0.00002
NM_025114.4(CEP290):c.7083G>T (p.Gln2361His) rs201801456 0.00002
NM_025114.4(CEP290):c.7169C>G (p.Thr2390Arg) rs776216960 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.996T>C (p.His332=) rs746022535 0.00002
NM_025114.4(CEP290):c.-203C>A rs961052158 0.00001
NM_025114.4(CEP290):c.-38G>C rs886049886 0.00001
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+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.1038T>G (p.Asp346Glu) rs372923864 0.00001
NM_025114.4(CEP290):c.1042A>T (p.Ser348Cys) rs753281190 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.1066-3T>C rs996569804 0.00001
NM_025114.4(CEP290):c.1066-4A>G rs2039668462 0.00001
NM_025114.4(CEP290):c.10A>G (p.Asn4Asp) rs997653455 0.00001
NM_025114.4(CEP290):c.1107A>G (p.Glu369=) rs1202218217 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.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.1198A>G (p.Thr400Ala) rs772026871 0.00001
NM_025114.4(CEP290):c.1214C>T (p.Thr405Ile) rs781183605 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.1334_1339del (p.Leu445_Lys446del) rs1323191320 0.00001
NM_025114.4(CEP290):c.1345A>G (p.Lys449Glu) rs747463477 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.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.1464A>G (p.Lys488=) rs747644093 0.00001
NM_025114.4(CEP290):c.1465C>A (p.Leu489Ile) rs1231028240 0.00001
NM_025114.4(CEP290):c.1474A>T (p.Lys492Ter) rs1278679056 0.00001
NM_025114.4(CEP290):c.1484A>G (p.Asp495Gly) rs1228969929 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.1523-11T>G rs747839947 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.1593C>A (p.Tyr531Ter) rs763559949 0.00001
NM_025114.4(CEP290):c.1596A>G (p.Arg532=) rs770310236 0.00001
NM_025114.4(CEP290):c.1623+13G>A rs746496743 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.1627G>T (p.Glu543Ter) rs1186821575 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.1680T>C (p.Ala560=) rs777669368 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.1712-2A>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.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.180+9G>A rs2040617810 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+15T>C rs999848467 0.00001
NM_025114.4(CEP290):c.1824+16T>G rs769650506 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.192A>C (p.Gln64His) rs965922201 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.1953G>A (p.Met651Ile) rs1402439930 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.1999G>A (p.Val667Ile) rs1374826842 0.00001
NM_025114.4(CEP290):c.2016A>G (p.Thr672=) rs886038690 0.00001
NM_025114.4(CEP290):c.2052+17A>G rs886038691 0.00001
NM_025114.4(CEP290):c.2052+20T>C rs142162258 0.00001
NM_025114.4(CEP290):c.2052+27T>C rs748630707 0.00001
NM_025114.4(CEP290):c.2052+7T>A rs1341344972 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.2168G>A (p.Arg723Gln) rs764117043 0.00001
NM_025114.4(CEP290):c.2183A>G (p.Asn728Ser) rs752513342 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.2218-10T>C rs1433595237 0.00001
NM_025114.4(CEP290):c.2277T>C (p.Val759=) rs1253940761 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.237A>G (p.Glu79=) rs1206035309 0.00001
NM_025114.4(CEP290):c.2394A>G (p.Leu798=) rs542236778 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.2448T>C (p.Arg816=) rs371851348 0.00001
NM_025114.4(CEP290):c.2456A>T (p.Gln819Leu) rs1209421607 0.00001
NM_025114.4(CEP290):c.2483+3_2483+7dup rs1461768571 0.00001
NM_025114.4(CEP290):c.2490G>A (p.Lys830=) rs1487806486 0.00001
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile) rs764963626 0.00001
NM_025114.4(CEP290):c.2587-19T>C rs755086278 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.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.2721G>A (p.Glu907=) rs1238362600 0.00001
NM_025114.4(CEP290):c.274A>G (p.Met92Val) rs951351175 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.2826C>G (p.Ala942=) rs1456663660 0.00001
NM_025114.4(CEP290):c.2839G>T (p.Ala947Ser) rs967541984 0.00001
NM_025114.4(CEP290):c.2861A>G (p.Asp954Gly) rs886049882 0.00001
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe) rs546463648 0.00001
NM_025114.4(CEP290):c.2880T>C (p.Ser960=) rs778138631 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.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.2991+11G>A rs1214417467 0.00001
NM_025114.4(CEP290):c.2991G>A (p.Glu997=) rs2037995979 0.00001
NM_025114.4(CEP290):c.2T>A (p.Met1Lys) rs368984997 0.00001
NM_025114.4(CEP290):c.3006C>T (p.Ser1002=) rs748493455 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.3030A>C (p.Ile1010=) rs1280566129 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.3104-5T>G rs1302558061 0.00001
NM_025114.4(CEP290):c.3108T>C (p.Asn1036=) rs2037242478 0.00001
NM_025114.4(CEP290):c.3129A>G (p.Ala1043=) rs2037240316 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.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.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.3309+2T>C rs1007902545 0.00001
NM_025114.4(CEP290):c.3310-10A>G rs1178248633 0.00001
NM_025114.4(CEP290):c.3310-20T>C rs1446567922 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.3342G>A (p.Val1114=) rs754811220 0.00001
NM_025114.4(CEP290):c.3385G>A (p.Ala1129Thr) rs71454116 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.3461+16C>T rs1191430138 0.00001
NM_025114.4(CEP290):c.3529G>C (p.Asp1177His) rs1030787885 0.00001
NM_025114.4(CEP290):c.3550A>C (p.Arg1184=) rs1275942966 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.3613C>A (p.Gln1205Lys) rs1240887746 0.00001
NM_025114.4(CEP290):c.3621T>C (p.Asn1207=) rs761412978 0.00001
NM_025114.4(CEP290):c.3626C>G (p.Ser1209Cys) rs753350609 0.00001
NM_025114.4(CEP290):c.3644C>T (p.Ala1215Val) rs1420933299 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.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.3731A>G (p.Glu1244Gly) rs1342978055 0.00001
NM_025114.4(CEP290):c.3757C>T (p.Arg1253Cys) rs547677441 0.00001
NM_025114.4(CEP290):c.3802C>T (p.Gln1268Ter) rs1468942944 0.00001
NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter) rs1412133967 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.3899T>C (p.Ile1300Thr) rs1460182061 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.393G>A (p.Leu131=) rs780621500 0.00001
NM_025114.4(CEP290):c.3960G>A (p.Glu1320=) rs2036812497 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.4029G>A (p.Lys1343=) rs1057519245 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.4177A>G (p.Ile1393Val) rs2036709987 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.4288A>C (p.Asn1430His) rs749261915 0.00001
NM_025114.4(CEP290):c.4299A>G (p.Gln1433=) rs1457015763 0.00001
NM_025114.4(CEP290):c.4302+5G>A rs1013125589 0.00001
NM_025114.4(CEP290):c.4303-15A>G rs767235408 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.4344C>T (p.Pro1448=) rs2036556391 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.441+14T>G rs765642954 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.4441C>T (p.Leu1481=) rs1220385672 0.00001
NM_025114.4(CEP290):c.4471G>A (p.Ala1491Thr) rs771133112 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.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.4566A>G (p.Leu1522=) rs763991371 0.00001
NM_025114.4(CEP290):c.4614T>C (p.Ala1538=) rs747484394 0.00001
NM_025114.4(CEP290):c.4634T>C (p.Met1545Thr) rs1217427527 0.00001
NM_025114.4(CEP290):c.4651C>T (p.Gln1551Ter) rs746305733 0.00001
NM_025114.4(CEP290):c.4681C>T (p.Arg1561Cys) rs763605289 0.00001
NM_025114.4(CEP290):c.4697C>T (p.Ala1566Val) rs751408783 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.4736A>T (p.Glu1579Val) rs760059883 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.4813G>T (p.Asp1605Tyr) rs554863859 0.00001
NM_025114.4(CEP290):c.4817T>C (p.Leu1606Ser) rs767636506 0.00001
NM_025114.4(CEP290):c.4824A>G (p.Lys1608=) rs1273344761 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.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.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.496-4G>A rs1263086196 0.00001
NM_025114.4(CEP290):c.496-6C>T rs776649058 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+7C>T rs1459836393 0.00001
NM_025114.4(CEP290):c.5013-17A>G rs2036114425 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.5073G>A (p.Lys1691=) rs768807929 0.00001
NM_025114.4(CEP290):c.50A>C (p.Asp17Ala) rs1182703361 0.00001
NM_025114.4(CEP290):c.5163del (p.Thr1722fs) rs1565827171 0.00001
NM_025114.4(CEP290):c.5167A>G (p.Met1723Val) rs542400806 0.00001
NM_025114.4(CEP290):c.517-17T>C rs760912729 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.5256G>A (p.Arg1752=) rs754590700 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.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.5523G>A (p.Glu1841=) rs753424189 0.00001
NM_025114.4(CEP290):c.5526A>G (p.Glu1842=) rs777528087 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.5573C>G (p.Thr1858Ser) rs761261059 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.5621T>C (p.Ile1874Thr) rs781335780 0.00001
NM_025114.4(CEP290):c.5640A>G (p.Lys1880=) rs1225010541 0.00001
NM_025114.4(CEP290):c.5670A>C (p.Gly1890=) rs545964640 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.5710-14C>T rs766723760 0.00001
NM_025114.4(CEP290):c.5710-6T>C rs772896946 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.5808C>T (p.Val1936=) rs905571067 0.00001
NM_025114.4(CEP290):c.583T>C (p.Leu195=) rs1429521689 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.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.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.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.6145A>G (p.Ile2049Val) rs750355861 0.00001
NM_025114.4(CEP290):c.6150G>A (p.Glu2050=) rs1175295227 0.00001
NM_025114.4(CEP290):c.6193A>G (p.Asn2065Asp) rs886043119 0.00001
NM_025114.4(CEP290):c.6207A>G (p.Ser2069=) rs1327169453 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.634A>T (p.Asn212Tyr) rs527704077 0.00001
NM_025114.4(CEP290):c.6358-1G>A rs766670248 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.6493A>T (p.Asn2165Tyr) rs769886105 0.00001
NM_025114.4(CEP290):c.6525T>C (p.Ala2175=) rs2034343634 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.6624G>C (p.Arg2208Ser) rs777841957 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.6648A>G (p.Glu2216=) rs1048414150 0.00001
NM_025114.4(CEP290):c.6666A>G (p.Lys2222=) rs544886883 0.00001
NM_025114.4(CEP290):c.6671G>A (p.Arg2224Gln) rs1214939378 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.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+5G>A rs935214183 0.00001
NM_025114.4(CEP290):c.6819-10A>G rs150241790 0.00001
NM_025114.4(CEP290):c.6859G>A (p.Ala2287Thr) rs1212611161 0.00001
NM_025114.4(CEP290):c.6882T>C (p.Thr2294=) rs759290213 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.7004A>G (p.Gln2335Arg) rs1424407266 0.00001
NM_025114.4(CEP290):c.7020G>A (p.Glu2340=) rs749716804 0.00001
NM_025114.4(CEP290):c.7035A>G (p.Arg2345=) rs760964107 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.7130-16A>G rs1430895394 0.00001
NM_025114.4(CEP290):c.7131T>C (p.Asp2377=) rs759638203 0.00001
NM_025114.4(CEP290):c.7155A>G (p.Ile2385Met) rs770168358 0.00001
NM_025114.4(CEP290):c.7197G>A (p.Lys2399=) rs779550219 0.00001
NM_025114.4(CEP290):c.722A>G (p.Lys241Arg) rs199790246 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.770A>G (p.Tyr257Cys) rs367772168 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.79A>G (p.Asn27Asp) rs753760503 0.00001
NM_025114.4(CEP290):c.834C>T (p.Asn278=) rs567493515 0.00001
NM_025114.4(CEP290):c.838C>T (p.His280Tyr) rs575493480 0.00001
NM_025114.4(CEP290):c.869A>G (p.Asp290Gly) rs958209779 0.00001
NM_025114.4(CEP290):c.942+20A>G rs1409061084 0.00001
NM_025114.4(CEP290):c.978G>A (p.Glu326=) rs935755196 0.00001
NM_025114.4(CEP290):c.990G>A (p.Met330Ile) rs1388365600 0.00001
GRCh37/hg19 12q21.32(chr12:88447483-88530520)x3
GRCh37/hg19 12q21.32(chr12:88448136-88524191)x3
GRCh37/hg19 12q21.32(chr12:88448136-88530520)x3
GRCh37/hg19 12q21.32(chr12:88453608-88530520)x3
GRCh37/hg19 12q21.32(chr12:88454677-88524191)x3
GRCh37/hg19 12q21.32(chr12:88462318-88524191)x3
GRCh37/hg19 12q21.32(chr12:88485224-88505633)x1
NC_000012.11:g.(88500876_88502842)_(88505636_88508196)del
NC_000012.11:g.(?_88447419)_(88448200_?)del
NC_000012.11:g.(?_88447419)_(88448200_?)dup
NC_000012.11:g.(?_88452605)_(88494960_?)del
NC_000012.11:g.(?_88452615)_(88453807_?)del
NC_000012.11:g.(?_88465051)_(88465723_?)del
NC_000012.11:g.(?_88465051)_(88508979_?)dup
NC_000012.11:g.(?_88470989)_(88473016_?)del
NC_000012.11:g.(?_88479796)_(88514963_?)del
NC_000012.11:g.(?_88494960)_(88512540_?)dup
NC_000012.11:g.(?_88510800)_(88510932_?)del
NC_000012.11:g.(?_88512250)_(88519156_?)del
NC_000012.11:g.(?_88532902)_(88533361_?)del
NM_025114.3(CEP290):c.6819-?_*171+?dup
NM_025114.4(CEP290):c.-118C>G rs886049887
NM_025114.4(CEP290):c.-208C>T rs551070690
NM_025114.4(CEP290):c.-28+15G>A rs1555230267
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)
NM_025114.4(CEP290):c.1005G>A (p.Arg335=) rs1043933772
NM_025114.4(CEP290):c.1006dup (p.Glu336fs)
NM_025114.4(CEP290):c.1008G>A (p.Glu336=)
NM_025114.4(CEP290):c.100A>C (p.Lys34Gln)
NM_025114.4(CEP290):c.102+17T>C
NM_025114.4(CEP290):c.102+1G>T rs2040637111
NM_025114.4(CEP290):c.102+2T>A
NM_025114.4(CEP290):c.102+2T>G rs763226787
NM_025114.4(CEP290):c.102+7A>T
NM_025114.4(CEP290):c.102+8A>T rs2138303509
NM_025114.4(CEP290):c.1020T>C (p.Asn340=)
NM_025114.4(CEP290):c.1025A>G (p.Gln342Arg) rs2138022289
NM_025114.4(CEP290):c.1026G>A (p.Gln342=)
NM_025114.4(CEP290):c.103-1G>T rs863225188
NM_025114.4(CEP290):c.103-20T>C
NM_025114.4(CEP290):c.103-30_103-24del
NM_025114.4(CEP290):c.103-4T>G
NM_025114.4(CEP290):c.103-5C>T rs2138299257
NM_025114.4(CEP290):c.1035T>A (p.Ala345=)
NM_025114.4(CEP290):c.1039A>T (p.Lys347Ter)
NM_025114.4(CEP290):c.1044T>C (p.Ser348=)
NM_025114.4(CEP290):c.104T>C (p.Val35Ala)
NM_025114.4(CEP290):c.104T>G (p.Val35Gly)
NM_025114.4(CEP290):c.1052T>C (p.Met351Thr) rs1415965131
NM_025114.4(CEP290):c.1054G>T (p.Ala352Ser)
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
NM_025114.4(CEP290):c.1065+12_1065+14del
NM_025114.4(CEP290):c.1065+15_1065+16del
NM_025114.4(CEP290):c.1065+1G>A
NM_025114.4(CEP290):c.1065+1G>C rs2138021203
NM_025114.4(CEP290):c.1065+9T>G
NM_025114.4(CEP290):c.1066-10T>C
NM_025114.4(CEP290):c.1066-20T>A rs1472056992
NM_025114.4(CEP290):c.1066-5T>C
NM_025114.4(CEP290):c.1066-8T>A
NM_025114.4(CEP290):c.1067G>A (p.Gly356Asp) rs1403887401
NM_025114.4(CEP290):c.1068T>A (p.Gly356=)
NM_025114.4(CEP290):c.1069A>C (p.Ile357Leu) rs2138003595
NM_025114.4(CEP290):c.1069A>G (p.Ile357Val)
NM_025114.4(CEP290):c.106G>T (p.Glu36Ter)
NM_025114.4(CEP290):c.1072C>T (p.Gln358Ter) rs1592656929
NM_025114.4(CEP290):c.1078C>A (p.Arg360=) rs776645403
NM_025114.4(CEP290):c.1081G>T (p.Asp361Tyr)
NM_025114.4(CEP290):c.1082A>G (p.Asp361Gly)
NM_025114.4(CEP290):c.1083C>A (p.Asp361Glu)
NM_025114.4(CEP290):c.1092T>C (p.Ile364=)
NM_025114.4(CEP290):c.1095G>A (p.Lys365=) rs2138002953
NM_025114.4(CEP290):c.1096del (p.Met366fs)
NM_025114.4(CEP290):c.1097T>C (p.Met366Thr)
NM_025114.4(CEP290):c.1103C>A (p.Thr368Asn)
NM_025114.4(CEP290):c.1103C>T (p.Thr368Ile)
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)
NM_025114.4(CEP290):c.1122T>C (p.Tyr374=) rs758472041
NM_025114.4(CEP290):c.1128A>G (p.Lys376=) rs2138001930
NM_025114.4(CEP290):c.1131A>G (p.Glu377=) rs1248968401
NM_025114.4(CEP290):c.1134G>A (p.Met378Ile)
NM_025114.4(CEP290):c.1140G>A (p.Lys380=)
NM_025114.4(CEP290):c.1142A>G (p.Asn381Ser) rs1295338042
NM_025114.4(CEP290):c.1158A>G (p.Glu386=)
NM_025114.4(CEP290):c.1163T>A (p.Leu388Ter)
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.1169dup (p.Asn390fs)
NM_025114.4(CEP290):c.1171G>T (p.Glu391Ter)
NM_025114.4(CEP290):c.1172A>G (p.Glu391Gly)
NM_025114.4(CEP290):c.1175T>G (p.Leu392Arg) rs794727106
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.1189+10T>G
NM_025114.4(CEP290):c.1189+13A>G rs2039658519
NM_025114.4(CEP290):c.1189+15A>G
NM_025114.4(CEP290):c.1189+16T>C
NM_025114.4(CEP290):c.1189+19A>G
NM_025114.4(CEP290):c.1189+19_1189+21del
NM_025114.4(CEP290):c.1189+1G>A rs2039659434
NM_025114.4(CEP290):c.1189+20G>A
NM_025114.4(CEP290):c.1189+20_1189+23del rs1460774098
NM_025114.4(CEP290):c.1189+2T>C
NM_025114.4(CEP290):c.1189+9A>G
NM_025114.4(CEP290):c.1190-10T>C rs750104849
NM_025114.4(CEP290):c.1190-15G>T
NM_025114.4(CEP290):c.1190-4G>C rs2039375104
NM_025114.4(CEP290):c.1190-6C>G
NM_025114.4(CEP290):c.1190-6C>T
NM_025114.4(CEP290):c.1190-8C>G rs764602507
NM_025114.4(CEP290):c.1190-8_1190-7delinsTC rs2137921603
NM_025114.4(CEP290):c.1195T>G (p.Ser399Ala)
NM_025114.4(CEP290):c.1197A>C (p.Ser399=)
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.1229A>G (p.Gln410Arg)
NM_025114.4(CEP290):c.1230G>A (p.Gln410=) rs2137920073
NM_025114.4(CEP290):c.1232C>G (p.Ser411Ter)
NM_025114.4(CEP290):c.1236G>T (p.Thr412=)
NM_025114.4(CEP290):c.1240G>A (p.Asp414Asn)
NM_025114.4(CEP290):c.1247T>G (p.Leu416Ter) rs1269182131
NM_025114.4(CEP290):c.1248A>G (p.Leu416=)
NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs) rs897997464
NM_025114.4(CEP290):c.1258dup (p.Thr420fs) rs868650061
NM_025114.4(CEP290):c.1260_1264del (p.Lys421fs) rs2137919146
NM_025114.4(CEP290):c.1263A>G (p.Lys421=)
NM_025114.4(CEP290):c.1266G>A (p.Glu422=)
NM_025114.4(CEP290):c.1268C>A (p.Ala423Asp)
NM_025114.4(CEP290):c.1271A>G (p.Glu424Gly)
NM_025114.4(CEP290):c.1273del (p.Arg425fs)
NM_025114.4(CEP290):c.1280C>T (p.Ala427Val) rs2039369004
NM_025114.4(CEP290):c.1281T>C (p.Ala427=) rs2137918647
NM_025114.4(CEP290):c.1284A>G (p.Glu428=)
NM_025114.4(CEP290):c.1293G>A (p.Glu431=) rs1367715172
NM_025114.4(CEP290):c.1296T>C (p.Ala432=)
NM_025114.4(CEP290):c.1296_1299dup (p.Ala434Ter)
NM_025114.4(CEP290):c.1297G>A (p.Asp433Asn)
NM_025114.4(CEP290):c.12T>C (p.Asn4=)
NM_025114.4(CEP290):c.1305G>A (p.Arg435=)
NM_025114.4(CEP290):c.1306G>A (p.Glu436Lys)
NM_025114.4(CEP290):c.1307A>G (p.Glu436Gly) rs2039366661
NM_025114.4(CEP290):c.1310del (p.Lys437fs) rs2137917381
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.1320A>G (p.Glu440=)
NM_025114.4(CEP290):c.1325T>A (p.Val442Asp)
NM_025114.4(CEP290):c.1325T>C (p.Val442Ala)
NM_025114.4(CEP290):c.1331C>T (p.Ala444Val)
NM_025114.4(CEP290):c.1333C>G (p.Leu445Val) rs2039364974
NM_025114.4(CEP290):c.1338del (p.Arg447fs) rs2039364798
NM_025114.4(CEP290):c.133_136del (p.Gln45fs) rs2138298697
NM_025114.4(CEP290):c.133del (p.Gln45fs)
NM_025114.4(CEP290):c.1347dup (p.Asp450fs) rs774490795
NM_025114.4(CEP290):c.1349A>G (p.Asp450Gly) rs777867610
NM_025114.4(CEP290):c.1350T>C (p.Asp450=)
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+13A>G
NM_025114.4(CEP290):c.1359+15C>G
NM_025114.4(CEP290):c.1359+15C>T
NM_025114.4(CEP290):c.1359+16T>C
NM_025114.4(CEP290):c.1359+18G>T
NM_025114.4(CEP290):c.1359+19T>C
NM_025114.4(CEP290):c.1359+1G>A rs935130451
NM_025114.4(CEP290):c.1359+20C>A
NM_025114.4(CEP290):c.1359+20C>T
NM_025114.4(CEP290):c.1359+2dup
NM_025114.4(CEP290):c.135A>C (p.Gln45His) rs2138298764
NM_025114.4(CEP290):c.135A>G (p.Gln45=)
NM_025114.4(CEP290):c.1360-11A>G
NM_025114.4(CEP290):c.1360-14T>G
NM_025114.4(CEP290):c.1360-1G>C
NM_025114.4(CEP290):c.1360-250_1360-249del rs536091919
NM_025114.4(CEP290):c.1360-4T>C
NM_025114.4(CEP290):c.1360-7T>C
NM_025114.4(CEP290):c.1360-9A>C rs2137905309
NM_025114.4(CEP290):c.1360-9del
NM_025114.4(CEP290):c.1362A>G (p.Gly454=)
NM_025114.4(CEP290):c.1365A>G (p.Val455=)
NM_025114.4(CEP290):c.1371T>C (p.Gly457=)
NM_025114.4(CEP290):c.1380T>C (p.Asp460=)
NM_025114.4(CEP290):c.1386C>A (p.Val462=) rs886038689
NM_025114.4(CEP290):c.1389T>A (p.Val463=)
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=)
NM_025114.4(CEP290):c.1392_1393insCTACTTA (p.Ile465fs) rs1565900023
NM_025114.4(CEP290):c.1393del (p.Glu464_Ile465insTer) rs2039321844
NM_025114.4(CEP290):c.1397_1400del (p.Lys466fs)
NM_025114.4(CEP290):c.13A>T (p.Ile5Leu)
NM_025114.4(CEP290):c.1400del (p.Asn467fs) rs2137903965
NM_025114.4(CEP290):c.1403G>A (p.Cys468Tyr)
NM_025114.4(CEP290):c.1405A>G (p.Lys469Glu)
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=)
NM_025114.4(CEP290):c.1435_1436del (p.Glu478_Ile479insTer)
NM_025114.4(CEP290):c.1436T>C (p.Ile479Thr)
NM_025114.4(CEP290):c.1439_1450delinsG (p.Glu480fs)
NM_025114.4(CEP290):c.143_144del (p.Val48fs)
NM_025114.4(CEP290):c.1451del (p.Lys484fs) rs386834149
NM_025114.4(CEP290):c.1453dup (p.Glu485fs)
NM_025114.4(CEP290):c.1466T>C (p.Leu489Pro)
NM_025114.4(CEP290):c.1471T>A (p.Leu491Met)
NM_025114.4(CEP290):c.1471_1475del (p.Leu491fs)
NM_025114.4(CEP290):c.147A>G (p.Ile49Met)
NM_025114.4(CEP290):c.1480del (p.Ser494fs)
NM_025114.4(CEP290):c.1482T>C (p.Ser494=) rs1295495930
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.1495G>T (p.Glu499Ter)
NM_025114.4(CEP290):c.149A>G (p.His50Arg) rs2138298302
NM_025114.4(CEP290):c.14T>C (p.Ile5Thr) rs1434632102
NM_025114.4(CEP290):c.14T>G (p.Ile5Arg)
NM_025114.4(CEP290):c.1501G>T (p.Glu501Ter)
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=)
NM_025114.4(CEP290):c.1516C>T (p.Arg506Cys) rs368427967
NM_025114.4(CEP290):c.1516del (p.Arg506fs)
NM_025114.4(CEP290):c.1518dup (p.Val507fs)
NM_025114.4(CEP290):c.151C>T (p.Leu51Phe) rs1264332374
NM_025114.4(CEP290):c.1522+11T>C
NM_025114.4(CEP290):c.1522+14T>G
NM_025114.4(CEP290):c.1522+15A>C
NM_025114.4(CEP290):c.1522+1G>C rs1592639588
NM_025114.4(CEP290):c.1522+20A>T
NM_025114.4(CEP290):c.1522+58del rs202232715
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.1523-13C>T
NM_025114.4(CEP290):c.1523-14G>A
NM_025114.4(CEP290):c.1523-15del rs2137876506
NM_025114.4(CEP290):c.1523-18T>C
NM_025114.4(CEP290):c.1523-19A>G
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=)
NM_025114.4(CEP290):c.1527T>G (p.Leu509=)
NM_025114.4(CEP290):c.1550del (p.Asp516_Leu517insTer) rs62640579
NM_025114.4(CEP290):c.1550dup (p.Leu517fs) rs62640579
NM_025114.4(CEP290):c.1554T>A (p.Thr518=)
NM_025114.4(CEP290):c.1564A>C (p.Asn522His)
NM_025114.4(CEP290):c.1565A>G (p.Asn522Ser) rs751732097
NM_025114.4(CEP290):c.1584G>A (p.Gln528=)
NM_025114.4(CEP290):c.1585C>T (p.Gln529Ter)
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)
NM_025114.4(CEP290):c.1599T>G (p.Ala533=) rs2137874116
NM_025114.4(CEP290):c.1600G>A (p.Glu534Lys)
NM_025114.4(CEP290):c.1602A>G (p.Glu534=)
NM_025114.4(CEP290):c.1605C>T (p.Asn535=)
NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter) rs1465414886
NM_025114.4(CEP290):c.1611T>A (p.Ile537=)
NM_025114.4(CEP290):c.1611T>C (p.Ile537=)
NM_025114.4(CEP290):c.1615T>G (p.Leu539Val) rs2137873551
NM_025114.4(CEP290):c.1616del (p.Leu538_Leu539insTer)
NM_025114.4(CEP290):c.1623+10G>A rs377529198
NM_025114.4(CEP290):c.1623+10G>T rs377529198
NM_025114.4(CEP290):c.1623+10_1623+11dup
NM_025114.4(CEP290):c.1623+18T>C
NM_025114.4(CEP290):c.1623+1G>A rs863225186
NM_025114.4(CEP290):c.1623+5G>A rs1555222073
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
NM_025114.4(CEP290):c.1624-13T>C
NM_025114.4(CEP290):c.1624-13T>G
NM_025114.4(CEP290):c.1624-14T>G
NM_025114.4(CEP290):c.1624-18A>C
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.1635A>G (p.Leu545=)
NM_025114.4(CEP290):c.1636G>C (p.Glu546Gln) rs373498346
NM_025114.4(CEP290):c.1638G>A (p.Glu546=)
NM_025114.4(CEP290):c.1644A>C (p.Glu548Asp)
NM_025114.4(CEP290):c.1644A>G (p.Glu548=)
NM_025114.4(CEP290):c.1646G>T (p.Arg549Leu)
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=)
NM_025114.4(CEP290):c.1654C>A (p.Leu552Met)
NM_025114.4(CEP290):c.1655T>C (p.Leu552Pro) rs2039206485
NM_025114.4(CEP290):c.1657A>T (p.Lys553Ter)
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.1664A>T (p.Lys555Ile)
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)
NM_025114.4(CEP290):c.1675del (p.Met559fs) rs2137868361
NM_025114.4(CEP290):c.1676T>C (p.Met559Thr)
NM_025114.4(CEP290):c.167dup (p.Ser57fs) rs2138297703
NM_025114.4(CEP290):c.1681C>T (p.Gln561Ter)
NM_025114.4(CEP290):c.1683A>G (p.Gln561=)
NM_025114.4(CEP290):c.1684G>A (p.Glu562Lys)
NM_025114.4(CEP290):c.1691del (p.Gly564fs)
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
NM_025114.4(CEP290):c.1711+18A>G rs2137866354
NM_025114.4(CEP290):c.1711+2T>A
NM_025114.4(CEP290):c.1711+7T>C
NM_025114.4(CEP290):c.1711+9A>G rs1354489737
NM_025114.4(CEP290):c.1712-20G>T
NM_025114.4(CEP290):c.1712-4A>G
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)
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=)
NM_025114.4(CEP290):c.1747A>G (p.Ile583Val) rs1459958084
NM_025114.4(CEP290):c.174A>G (p.Leu58=) rs1257171303
NM_025114.4(CEP290):c.174A>T (p.Leu58=)
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)
NM_025114.4(CEP290):c.1758A>G (p.Gly586=)
NM_025114.4(CEP290):c.1761T>C (p.Asp587=)
NM_025114.4(CEP290):c.1767A>G (p.Ile589Met)
NM_025114.4(CEP290):c.1769G>C (p.Ser590Thr)
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.1789T>C (p.Leu597=) rs2039096949
NM_025114.4(CEP290):c.1790T>A (p.Leu597Ter)
NM_025114.4(CEP290):c.1790_1805del (p.Leu596_Leu597insTer)
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=)
NM_025114.4(CEP290):c.1798A>T (p.Lys600Ter) rs2137836218
NM_025114.4(CEP290):c.180+10_180+11dup
NM_025114.4(CEP290):c.180+11A>G rs2138296866
NM_025114.4(CEP290):c.180+12G>T
NM_025114.4(CEP290):c.180+13T>C
NM_025114.4(CEP290):c.180+14A>T
NM_025114.4(CEP290):c.180+15G>T
NM_025114.4(CEP290):c.180+18T>G
NM_025114.4(CEP290):c.180+196G>T rs1029384340
NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025114.4(CEP290):c.180+1G>T
NM_025114.4(CEP290):c.180+2T>A rs386834150
NM_025114.4(CEP290):c.180+8T>C rs750648438
NM_025114.4(CEP290):c.1801A>G (p.Asn601Asp)
NM_025114.4(CEP290):c.1802del (p.Asn601fs)
NM_025114.4(CEP290):c.1805del (p.Met602fs)
NM_025114.4(CEP290):c.180G>A (p.Lys60=)
NM_025114.4(CEP290):c.181-10T>A
NM_025114.4(CEP290):c.181-10del rs1302625844
NM_025114.4(CEP290):c.181-10dup
NM_025114.4(CEP290):c.181-17C>A
NM_025114.4(CEP290):c.181-17C>G
NM_025114.4(CEP290):c.181-18C>T
NM_025114.4(CEP290):c.181-1G>T rs281865190
NM_025114.4(CEP290):c.181-3T>C rs770415774
NM_025114.4(CEP290):c.181-4T>A rs773899264
NM_025114.4(CEP290):c.181-6G>A rs975947396
NM_025114.4(CEP290):c.181-7T>C rs2138267601
NM_025114.4(CEP290):c.1816C>T (p.Gln606Ter)
NM_025114.4(CEP290):c.1824+12G>A
NM_025114.4(CEP290):c.1824+14A>G
NM_025114.4(CEP290):c.1824+15dup rs746448124
NM_025114.4(CEP290):c.1824+17G>A
NM_025114.4(CEP290):c.1824+18C>A
NM_025114.4(CEP290):c.1824+1G>A
NM_025114.4(CEP290):c.1824+39dup rs890305929
NM_025114.4(CEP290):c.1824+59del rs890305929
NM_025114.4(CEP290):c.1824+60G>T rs1351164770
NM_025114.4(CEP290):c.1824+7G>A
NM_025114.4(CEP290):c.1824+7G>C
NM_025114.4(CEP290):c.1824+9A>G rs2137835565
NM_025114.4(CEP290):c.1825-11G>C
NM_025114.4(CEP290):c.1825-16T>C
NM_025114.4(CEP290):c.1825-17C>A rs1271533024
NM_025114.4(CEP290):c.1825-17C>T
NM_025114.4(CEP290):c.1825-17CT[2] rs367600498
NM_025114.4(CEP290):c.1825-19T>G
NM_025114.4(CEP290):c.1825-715T>C
NM_025114.4(CEP290):c.1827T>C (p.Asn609=)
NM_025114.4(CEP290):c.1830A>G (p.Glu610=) rs2038962868
NM_025114.4(CEP290):c.1830del (p.Glu610fs) rs992032116
NM_025114.4(CEP290):c.1835_1838del (p.Leu612fs)
NM_025114.4(CEP290):c.1839A>T (p.Ser613=)
NM_025114.4(CEP290):c.1844_1845dup (p.Leu616fs)
NM_025114.4(CEP290):c.1851T>C (p.Ile617=)
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)
NM_025114.4(CEP290):c.1863A>G (p.Arg621=)
NM_025114.4(CEP290):c.1864_1865del (p.Asp622fs) rs1033594764
NM_025114.4(CEP290):c.1875G>A (p.Arg625=)
NM_025114.4(CEP290):c.1878T>C (p.Ser626=)
NM_025114.4(CEP290):c.1884A>C (p.Thr628=)
NM_025114.4(CEP290):c.1884A>G (p.Thr628=)
NM_025114.4(CEP290):c.188C>T (p.Ala63Val) rs769705891
NM_025114.4(CEP290):c.1894A>G (p.Lys632Glu)
NM_025114.4(CEP290):c.1899T>C (p.Phe633=)
NM_025114.4(CEP290):c.1908A>G (p.Lys636=)
NM_025114.4(CEP290):c.1909+14A>T
NM_025114.4(CEP290):c.1909+17T>C
NM_025114.4(CEP290):c.1909+1G>T
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.1910-11T>G rs1555220638
NM_025114.4(CEP290):c.1910-1G>A
NM_025114.4(CEP290):c.1910-27_1910-19del
NM_025114.4(CEP290):c.1910-4A>G
NM_025114.4(CEP290):c.1914del (p.Glu639fs)
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)
NM_025114.4(CEP290):c.1935G>A (p.Lys645=)
NM_025114.4(CEP290):c.1944A>G (p.Glu648=)
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=)
NM_025114.4(CEP290):c.1987A>G (p.Lys663Glu)
NM_025114.4(CEP290):c.1987A>T (p.Lys663Ter) rs2038919221
NM_025114.4(CEP290):c.1989dup (p.Asp664fs)
NM_025114.4(CEP290):c.1992del (p.Pro665fs) rs770175184
NM_025114.4(CEP290):c.1998T>C (p.Asp666=)
NM_025114.4(CEP290):c.1A>G (p.Met1Val) rs2040644756
NM_025114.4(CEP290):c.2009G>A (p.Gly670Glu) rs2038917373
NM_025114.4(CEP290):c.201G>A (p.Glu67=)
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=)
NM_025114.4(CEP290):c.2047_2050del (p.Val683fs)
NM_025114.4(CEP290):c.2052+14T>C rs2137779486
NM_025114.4(CEP290):c.2052+15T>C
NM_025114.4(CEP290):c.2052+15dup
NM_025114.4(CEP290):c.2052+18T>A
NM_025114.4(CEP290):c.2052+1G>A
NM_025114.4(CEP290):c.2052+1_2052+2del rs747835249
NM_025114.4(CEP290):c.2052+30del rs11358611
NM_025114.4(CEP290):c.2052+4A>T
NM_025114.4(CEP290):c.2052+8A>G
NM_025114.4(CEP290):c.2052+9T>C
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
NM_025114.4(CEP290):c.2053-16A>G
NM_025114.4(CEP290):c.2053-17T>C
NM_025114.4(CEP290):c.2053-20A>C
NM_025114.4(CEP290):c.2053-20A>G
NM_025114.4(CEP290):c.2053-22A>G
NM_025114.4(CEP290):c.2053-4C>G
NM_025114.4(CEP290):c.2053G>A (p.Ala685Thr) rs2038714969
NM_025114.4(CEP290):c.2058A>G (p.Ile686Met)
NM_025114.4(CEP290):c.2064A>C (p.Ser688=) rs2137725550
NM_025114.4(CEP290):c.2064A>G (p.Ser688=)
NM_025114.4(CEP290):c.2067G>A (p.Lys689=) rs1425613490
NM_025114.4(CEP290):c.2070T>C (p.Asn690=)
NM_025114.4(CEP290):c.2073A>C (p.Ala691=)
NM_025114.4(CEP290):c.2089G>C (p.Ala697Pro) rs886044122
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)
NM_025114.4(CEP290):c.2095C>T (p.Leu699=) rs748627817
NM_025114.4(CEP290):c.2097G>T (p.Leu699=)
NM_025114.4(CEP290):c.2099A>G (p.His700Arg)
NM_025114.4(CEP290):c.2107G>A (p.Ala703Thr)
NM_025114.4(CEP290):c.2112del (p.Val705fs) rs863225183
NM_025114.4(CEP290):c.2119_2123dup (p.Thr709fs) rs62640580
NM_025114.4(CEP290):c.2124_2125insGGCTTTCA (p.Thr709fs)
NM_025114.4(CEP290):c.2127C>G (p.Thr709=)
NM_025114.4(CEP290):c.2128G>A (p.Gly710Arg)
NM_025114.4(CEP290):c.2132G>C (p.Arg711Thr)
NM_025114.4(CEP290):c.2138A>G (p.Glu713Gly) rs2137723121
NM_025114.4(CEP290):c.2140G>T (p.Glu714Ter) rs1440259390
NM_025114.4(CEP290):c.2144T>G (p.Leu715Ter)
NM_025114.4(CEP290):c.2149C>T (p.Gln717Ter)
NM_025114.4(CEP290):c.214G>T (p.Glu72Ter)
NM_025114.4(CEP290):c.2163A>G (p.Glu721=) rs2137722314
NM_025114.4(CEP290):c.2165C>T (p.Ser722Phe)
NM_025114.4(CEP290):c.216A>T (p.Glu72Asp)
NM_025114.4(CEP290):c.2173G>A (p.Glu725Lys)
NM_025114.4(CEP290):c.2176del (p.Ala726fs)
NM_025114.4(CEP290):c.2177C>T (p.Ala726Val) rs1592608053
NM_025114.4(CEP290):c.2179A>G (p.Ile727Val)
NM_025114.4(CEP290):c.2180T>C (p.Ile727Thr) rs2137721924
NM_025114.4(CEP290):c.2186A>T (p.Tyr729Phe)
NM_025114.4(CEP290):c.2191C>A (p.Gln731Lys) rs767250881
NM_025114.4(CEP290):c.2191C>T (p.Gln731Ter)
NM_025114.4(CEP290):c.2194C>T (p.Gln732Ter)
NM_025114.4(CEP290):c.2197T>C (p.Leu733=)
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
NM_025114.4(CEP290):c.2217+1G>T
NM_025114.4(CEP290):c.2217+2T>C rs2038702746
NM_025114.4(CEP290):c.2217+2T>G
NM_025114.4(CEP290):c.2217+3G>A rs765291878
NM_025114.4(CEP290):c.2217+3G>C rs765291878
NM_025114.4(CEP290):c.2217+5G>T
NM_025114.4(CEP290):c.2217+7A>G
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
NM_025114.4(CEP290):c.2218-1_2225del rs281865193
NM_025114.4(CEP290):c.2218-2A>G
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
NM_025114.4(CEP290):c.2218A>T (p.Ile740Leu) rs754736974
NM_025114.4(CEP290):c.2218_2222del (p.Ile740fs) rs2137713030
NM_025114.4(CEP290):c.2227C>T (p.Leu743Phe)
NM_025114.4(CEP290):c.2233A>G (p.Lys745Glu) rs1193394531
NM_025114.4(CEP290):c.2235A>G (p.Lys745=)
NM_025114.4(CEP290):c.223A>G (p.Lys75Glu) rs779010679
NM_025114.4(CEP290):c.2241T>C (p.Thr747=)
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.2248_2249del (p.Leu750fs) rs587783010
NM_025114.4(CEP290):c.2250A>G (p.Leu750=)
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)
NM_025114.4(CEP290):c.2259A>G (p.Ser753=)
NM_025114.4(CEP290):c.225A>G (p.Lys75=) rs2040521242
NM_025114.4(CEP290):c.2267_2268inv (p.Ser756Leu)
NM_025114.4(CEP290):c.2268= (p.Ser756=) rs2468255
NM_025114.4(CEP290):c.2268A>G (p.Ser756=) rs2468255
NM_025114.4(CEP290):c.2268A>T (p.Ser756=) rs2468255
NM_025114.4(CEP290):c.2268_2284del (p.Asn757_Val758insTer)
NM_025114.4(CEP290):c.2276T>G (p.Val759Gly) rs2038671061
NM_025114.4(CEP290):c.2279T>C (p.Phe760Ser) rs1488946278
NM_025114.4(CEP290):c.2279_2280del (p.Val759_Phe760insTer) rs2137710225
NM_025114.4(CEP290):c.2286A>G (p.Gly762=) rs1171982729
NM_025114.4(CEP290):c.2288T>C (p.Ile763Thr)
NM_025114.4(CEP290):c.228T>C (p.Ala76=)
NM_025114.4(CEP290):c.2293T>C (p.Leu765=)
NM_025114.4(CEP290):c.2296C>A (p.Pro766Thr)
NM_025114.4(CEP290):c.2301T>C (p.Asp767=)
NM_025114.4(CEP290):c.2304G>C (p.Gly768=)
NM_025114.4(CEP290):c.2304del (p.Gly768_Ile769insTer)
NM_025114.4(CEP290):c.2311C>T (p.Pro771Ser)
NM_025114.4(CEP290):c.2315C>A (p.Ser772Tyr) rs2137709342
NM_025114.4(CEP290):c.2317A>T (p.Ser773Cys) rs748976722
NM_025114.4(CEP290):c.2317dup (p.Ser773fs) rs1555218898
NM_025114.4(CEP290):c.231A>G (p.Gly77=) rs753852812
NM_025114.4(CEP290):c.2321C>G (p.Ala774Gly)
NM_025114.4(CEP290):c.2322C>T (p.Ala774=)
NM_025114.4(CEP290):c.2323A>T (p.Ser775Cys)
NM_025114.4(CEP290):c.2326A>G (p.Ile776Val) rs2038667289
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=)
NM_025114.4(CEP290):c.2340_2341del (p.Gln780_Asn781insTer)
NM_025114.4(CEP290):c.2342A>G (p.Asn781Ser)
NM_025114.4(CEP290):c.2351T>A (p.Leu784Ter) rs1206723575
NM_025114.4(CEP290):c.2355dup (p.His786fs)
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
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
NM_025114.4(CEP290):c.2368-10del rs2137665854
NM_025114.4(CEP290):c.2368-16C>A
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
NM_025114.4(CEP290):c.2368-8C>T
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.2389_2390del (p.Lys797fs)
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_025114.4(CEP290):c.2396A>G (p.Lys799Arg)
NM_025114.4(CEP290):c.2400T>C (p.Asn800=) rs2038497441
NM_025114.4(CEP290):c.2400T>G (p.Asn800Lys) rs2038497441
NM_025114.4(CEP290):c.2404G>C (p.Glu802Gln) rs1326068086
NM_025114.4(CEP290):c.2404_2433delinsAC (p.Glu802fs)
NM_025114.4(CEP290):c.2406del (p.Asp803fs)
NM_025114.4(CEP290):c.2411C>A (p.Ser804Tyr)
NM_025114.4(CEP290):c.2418A>G (p.Glu806=) rs2137663910
NM_025114.4(CEP290):c.2427C>G (p.Asn809Lys)
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=)
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)
NM_025114.4(CEP290):c.2459G>A (p.Ser820Asn)
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)
NM_025114.4(CEP290):c.246A>G (p.Lys82=) rs761233532
NM_025114.4(CEP290):c.2478C>G (p.Tyr826Ter)
NM_025114.4(CEP290):c.2478C>T (p.Tyr826=)
NM_025114.4(CEP290):c.2482A>T (p.Ser828Cys)
NM_025114.4(CEP290):c.2483+10T>G rs1327914633
NM_025114.4(CEP290):c.2483+13G>A
NM_025114.4(CEP290):c.2483+15A>G
NM_025114.4(CEP290):c.2483+19C>T
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.2484-12T>C
NM_025114.4(CEP290):c.2484-151A>G
NM_025114.4(CEP290):c.2484-18G>A
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.2484-2A>C
NM_025114.4(CEP290):c.2484-3dup
NM_025114.4(CEP290):c.2484-8G>A rs1436691712
NM_025114.4(CEP290):c.2484-8G>T
NM_025114.4(CEP290):c.2484-9del rs1189055838
NM_025114.4(CEP290):c.2497del (p.Trp833fs) rs2137624524
NM_025114.4(CEP290):c.2499G>A (p.Trp833Ter) rs2137624440
NM_025114.4(CEP290):c.249T>C (p.Phe83=)
NM_025114.4(CEP290):c.250+10T>C rs1317384355
NM_025114.4(CEP290):c.250+11T>A
NM_025114.4(CEP290):c.250+13G>A
NM_025114.4(CEP290):c.250+14A>G
NM_025114.4(CEP290):c.250+16A>G
NM_025114.4(CEP290):c.250+1G>A
NM_025114.4(CEP290):c.250+28G>C rs886038693
NM_025114.4(CEP290):c.250+9C>G rs2040519029
NM_025114.4(CEP290):c.2506G>T (p.Glu836Ter)
NM_025114.4(CEP290):c.2506_2507del (p.Glu836fs) rs1223251937
NM_025114.4(CEP290):c.251-114_251-96del rs552449427
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
NM_025114.4(CEP290):c.2510del (p.Ser837fs)
NM_025114.4(CEP290):c.2515A>G (p.Thr839Ala) rs1227513489
NM_025114.4(CEP290):c.2515A>T (p.Thr839Ser) rs1227513489
NM_025114.4(CEP290):c.2518A>T (p.Ile840Leu)
NM_025114.4(CEP290):c.2526G>T (p.Glu842Asp)
NM_025114.4(CEP290):c.2533A>C (p.Arg845=) rs371475408
NM_025114.4(CEP290):c.2536A>G (p.Lys846Glu) rs2137623175
NM_025114.4(CEP290):c.2538A>G (p.Lys846=)
NM_025114.4(CEP290):c.2542G>A (p.Glu848Lys)
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.2547T>C (p.Asp849=) rs1417219342
NM_025114.4(CEP290):c.254del (p.Asn85fs)
NM_025114.4(CEP290):c.254dup (p.Asn85fs) rs2138259100
NM_025114.4(CEP290):c.2550A>G (p.Gln850=)
NM_025114.4(CEP290):c.2554C>A (p.Gln852Lys) rs886038694
NM_025114.4(CEP290):c.2554C>T (p.Gln852Ter)
NM_025114.4(CEP290):c.2557C>T (p.Gln853Ter) rs2038335853
NM_025114.4(CEP290):c.2559A>G (p.Gln853=)
NM_025114.4(CEP290):c.255T>A (p.Asn85Lys)
NM_025114.4(CEP290):c.2565T>C (p.Ala855=)
NM_025114.4(CEP290):c.2566A>G (p.Ile856Val)
NM_025114.4(CEP290):c.2567dup (p.Val858fs)
NM_025114.4(CEP290):c.2568A>C (p.Ile856=)
NM_025114.4(CEP290):c.2569A>T (p.Lys857Ter)
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)
NM_025114.4(CEP290):c.2574A>G (p.Val858=) rs768235992
NM_025114.4(CEP290):c.2578G>T (p.Glu860Ter)
NM_025114.4(CEP290):c.2580A>G (p.Glu860=) rs1592590783
NM_025114.4(CEP290):c.2583T>C (p.Tyr861=)
NM_025114.4(CEP290):c.2586+1G>A
NM_025114.4(CEP290):c.2586+20C>A
NM_025114.4(CEP290):c.2586T>C (p.Asn862=) rs886038695
NM_025114.4(CEP290):c.2586_2586+4del
NM_025114.4(CEP290):c.2587-10C>G rs2137619649
NM_025114.4(CEP290):c.2587-14G>T
NM_025114.4(CEP290):c.2587-16A>T
NM_025114.4(CEP290):c.2587-17G>A
NM_025114.4(CEP290):c.2587-1G>A
NM_025114.4(CEP290):c.2587-1G>T
NM_025114.4(CEP290):c.2587-20A>G
NM_025114.4(CEP290):c.258A>G (p.Gln86=)
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs) rs1221464366
NM_025114.4(CEP290):c.2597A>G (p.Asn866Ser)
NM_025114.4(CEP290):c.259T>C (p.Leu87=)
NM_025114.4(CEP290):c.2600C>T (p.Ala867Val) rs2038321746
NM_025114.4(CEP290):c.2602C>T (p.Leu868Phe)
NM_025114.4(CEP290):c.2608A>G (p.Met870Val)
NM_025114.4(CEP290):c.2615C>A (p.Ser872Ter)
NM_025114.4(CEP290):c.2618A>T (p.Asp873Val)
NM_025114.4(CEP290):c.2621A>T (p.Glu874Val)
NM_025114.4(CEP290):c.2623A>G (p.Met875Val)
NM_025114.4(CEP290):c.2632del (p.Ile878fs) rs1404507934
NM_025114.4(CEP290):c.2632dup (p.Ile878fs)
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)
NM_025114.4(CEP290):c.2652G>A (p.Arg884=) rs2137617412
NM_025114.4(CEP290):c.2655A>G (p.Lys885=)
NM_025114.4(CEP290):c.265dup (p.Thr89fs) rs281865191
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)
NM_025114.4(CEP290):c.2670A>C (p.Gln890His) rs2038316964
NM_025114.4(CEP290):c.2673G>A (p.Val891=)
NM_025114.4(CEP290):c.267T>G (p.Thr89=)
NM_025114.4(CEP290):c.2681A>T (p.Lys894Ile) rs2137616560
NM_025114.4(CEP290):c.2682del (p.Lys894fs)
NM_025114.4(CEP290):c.2682dup (p.Ser895fs) rs1555216730
NM_025114.4(CEP290):c.2683T>C (p.Ser895Pro) rs1555216720
NM_025114.4(CEP290):c.2689dup (p.Ile897fs)
NM_025114.4(CEP290):c.268A>T (p.Lys90Ter) rs1057517886
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)
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=)
NM_025114.4(CEP290):c.2708T>G (p.Leu903Ter) rs768822859
NM_025114.4(CEP290):c.270_274del (p.Lys90fs)
NM_025114.4(CEP290):c.2713G>A (p.Glu905Lys)
NM_025114.4(CEP290):c.2723G>A (p.Arg908Gln)
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=)
NM_025114.4(CEP290):c.2732_2735del (p.Arg911fs) rs2137614623
NM_025114.4(CEP290):c.2737G>T (p.Glu913Ter)
NM_025114.4(CEP290):c.2738_2742del (p.Glu913fs) rs1565876618
NM_025114.4(CEP290):c.273A>G (p.Val91=) rs768434171
NM_025114.4(CEP290):c.2746A>T (p.Lys916Ter)
NM_025114.4(CEP290):c.274_280del (p.Met92fs) rs2138258171
NM_025114.4(CEP290):c.2750A>C (p.Gln917Pro)
NM_025114.4(CEP290):c.2757T>C (p.Asn919=)
NM_025114.4(CEP290):c.2763G>A (p.Leu921=) rs760283430
NM_025114.4(CEP290):c.2776G>C (p.Ala926Pro)
NM_025114.4(CEP290):c.2781A>G (p.Glu927=) rs2137612847
NM_025114.4(CEP290):c.2782G>C (p.Val928Leu)
NM_025114.4(CEP290):c.2784T>G (p.Val928=)
NM_025114.4(CEP290):c.2785T>A (p.Cys929Ser) rs770836483
NM_025114.4(CEP290):c.2794dup (p.Ile932fs)
NM_025114.4(CEP290):c.2801_2802del (p.Cys934fs)
NM_025114.4(CEP290):c.2813T>C (p.Phe938Ser)
NM_025114.4(CEP290):c.2817+10A>G
NM_025114.4(CEP290):c.2817+10A>T rs2137611795
NM_025114.4(CEP290):c.2817+14T>C
NM_025114.4(CEP290):c.2817+16A>G
NM_025114.4(CEP290):c.2817+17T>C
NM_025114.4(CEP290):c.2817+17T>G
NM_025114.4(CEP290):c.2817+19T>A
NM_025114.4(CEP290):c.2817+1G>T
NM_025114.4(CEP290):c.2817+4C>T rs768895932
NM_025114.4(CEP290):c.2818-10A>G rs2137544573
NM_025114.4(CEP290):c.2818-14C>A
NM_025114.4(CEP290):c.2818-14C>T
NM_025114.4(CEP290):c.2818-15T>A
NM_025114.4(CEP290):c.2818-20G>A
NM_025114.4(CEP290):c.2818-2A>G rs2038012556
NM_025114.4(CEP290):c.2818-4A>G rs2137544449
NM_025114.4(CEP290):c.2818-6A>G
NM_025114.4(CEP290):c.2821A>G (p.Met941Val) rs2038012227
NM_025114.4(CEP290):c.2823G>A (p.Met941Ile) rs2137544228
NM_025114.4(CEP290):c.2826C>T (p.Ala942=) rs1456663660
NM_025114.4(CEP290):c.282G>A (p.Leu94=)
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=)
NM_025114.4(CEP290):c.2853A>G (p.Lys951=) rs2038009620
NM_025114.4(CEP290):c.2856_2858del (p.Val953del)
NM_025114.4(CEP290):c.2861A>C (p.Asp954Ala) rs886049882
NM_025114.4(CEP290):c.2864A>G (p.Asn955Ser) rs1443848622
NM_025114.4(CEP290):c.2869G>A (p.Val957Ile) rs2038007630
NM_025114.4(CEP290):c.2874T>G (p.Ser958=)
NM_025114.4(CEP290):c.2884C>A (p.Leu962Ile)
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.2893G>T (p.Ala965Ser)
NM_025114.4(CEP290):c.2898T>C (p.Asn966=) rs2137542191
NM_025114.4(CEP290):c.2901A>T (p.Lys967Asn)
NM_025114.4(CEP290):c.2902C>T (p.Gln968Ter) rs1592574519
NM_025114.4(CEP290):c.2908A>G (p.Asn970Asp)
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.2931G>A (p.Arg977=)
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)
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.2946A>T (p.Lys982Asn) rs2037999495
NM_025114.4(CEP290):c.2948A>G (p.Asp983Gly)
NM_025114.4(CEP290):c.2951A>T (p.Asn984Ile) rs2037998907
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.2954del (p.Met985fs)
NM_025114.4(CEP290):c.2955G>A (p.Met985Ile) rs2037998320
NM_025114.4(CEP290):c.2958del (p.Val987fs)
NM_025114.4(CEP290):c.2965A>C (p.Arg989=) rs2037997734
NM_025114.4(CEP290):c.2969del (p.Thr990fs) rs1064793733
NM_025114.4(CEP290):c.297+10T>C rs2138257173
NM_025114.4(CEP290):c.297+11T>C
NM_025114.4(CEP290):c.297+1G>A rs878853360
NM_025114.4(CEP290):c.297+1G>C
NM_025114.4(CEP290):c.297+1del rs2138257533
NM_025114.4(CEP290):c.297+2T>C rs2040496802
NM_025114.4(CEP290):c.297+3A>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.298-10T>C
NM_025114.4(CEP290):c.298-144del rs112841615
NM_025114.4(CEP290):c.298-15G>A
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
NM_025114.4(CEP290):c.298-20T>G
NM_025114.4(CEP290):c.298-7C>T rs2040376906
NM_025114.4(CEP290):c.2983C>T (p.His995Tyr) rs2137539514
NM_025114.4(CEP290):c.2986C>T (p.Leu996=) rs759867592
NM_025114.4(CEP290):c.2991+1325C>G rs10858687
NM_025114.4(CEP290):c.2991+1333dup rs762783922
NM_025114.4(CEP290):c.2991+1356_2991+1357del rs762783922
NM_025114.4(CEP290):c.2991+1357del rs762783922
NM_025114.4(CEP290):c.2991+1358G>T rs1409280810
NM_025114.4(CEP290):c.2991+179CA[8] rs59853208
NM_025114.4(CEP290):c.2991+17C>T
NM_025114.4(CEP290):c.2991+1G>A
NM_025114.4(CEP290):c.2991+20G>T
NM_025114.4(CEP290):c.2991+3A>C
NM_025114.4(CEP290):c.2992-10C>G rs2137426807
NM_025114.4(CEP290):c.2992-11C>T
NM_025114.4(CEP290):c.2992-17A>G
NM_025114.4(CEP290):c.2992-18T>C
NM_025114.4(CEP290):c.2992-1G>A
NM_025114.4(CEP290):c.2992-1G>T
NM_025114.4(CEP290):c.2992-20del
NM_025114.4(CEP290):c.2992-2A>C
NM_025114.4(CEP290):c.2992-2A>T
NM_025114.4(CEP290):c.2992-322G>A rs116110864
NM_025114.4(CEP290):c.2992-6dup rs2137426720
NM_025114.4(CEP290):c.2992-7T>C
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.3000C>T (p.Asn1000=)
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.3014A>G (p.Glu1005Gly)
NM_025114.4(CEP290):c.3018A>G (p.Gln1006=)
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.3036A>G (p.Lys1012=) rs2137424983
NM_025114.4(CEP290):c.3037G>A (p.Glu1013Lys)
NM_025114.4(CEP290):c.303T>C (p.Ala101=) rs2040376122
NM_025114.4(CEP290):c.3040C>T (p.Leu1014=) rs2037475960
NM_025114.4(CEP290):c.3041T>C (p.Leu1014Pro)
NM_025114.4(CEP290):c.3045G>A (p.Glu1015=) rs2137424685
NM_025114.4(CEP290):c.305A>G (p.Gln102Arg)
NM_025114.4(CEP290):c.3066C>T (p.His1022=)
NM_025114.4(CEP290):c.3070A>G (p.Ile1024Val)
NM_025114.4(CEP290):c.3079G>T (p.Ala1027Ser)
NM_025114.4(CEP290):c.3081C>A (p.Ala1027=) rs779561006
NM_025114.4(CEP290):c.3081C>T (p.Ala1027=)
NM_025114.4(CEP290):c.3082T>G (p.Trp1028Gly) rs2037472723
NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter) rs2137423759
NM_025114.4(CEP290):c.3093A>G (p.Glu1031=)
NM_025114.4(CEP290):c.3097A>T (p.Lys1033Ter) rs1555213161
NM_025114.4(CEP290):c.309G>A (p.Gln103=)
NM_025114.4(CEP290):c.30A>C (p.Ile10=)
NM_025114.4(CEP290):c.3103+13A>G
NM_025114.4(CEP290):c.3103+15T>C
NM_025114.4(CEP290):c.3103+17T>C
NM_025114.4(CEP290):c.3103+19A>G
NM_025114.4(CEP290):c.3103+1G>A
NM_025114.4(CEP290):c.3103G>T (p.Gly1035Cys) rs1195864585
NM_025114.4(CEP290):c.3104-11A>T
NM_025114.4(CEP290):c.3104-14A>G
NM_025114.4(CEP290):c.3104-16A>G
NM_025114.4(CEP290):c.3104-2A>G rs773386777
NM_025114.4(CEP290):c.3104-5T>A rs1302558061
NM_025114.4(CEP290):c.3104-6A>G
NM_025114.4(CEP290):c.3104-8G>A
NM_025114.4(CEP290):c.3104-8G>T
NM_025114.4(CEP290):c.3104-9T>C
NM_025114.4(CEP290):c.3107A>G (p.Asn1036Ser) rs1064797172
NM_025114.4(CEP290):c.3111A>T (p.Glu1037Asp)
NM_025114.4(CEP290):c.3115A>C (p.Ser1039Arg) rs2037241839
NM_025114.4(CEP290):c.3116G>A (p.Ser1039Asn)
NM_025114.4(CEP290):c.3119T>C (p.Met1040Thr) rs2137369505
NM_025114.4(CEP290):c.3121G>A (p.Asp1041Asn)
NM_025114.4(CEP290):c.3123dup (p.Lys1042Ter) rs1555212271
NM_025114.4(CEP290):c.3128C>G (p.Ala1043Gly)
NM_025114.4(CEP290):c.312T>G (p.Ser104=) rs2138217275
NM_025114.4(CEP290):c.3130A>G (p.Lys1044Glu)
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.3148A>C (p.Ser1050Arg) rs1240996430
NM_025114.4(CEP290):c.3150dup (p.Asp1051Ter) rs2137368561
NM_025114.4(CEP290):c.3152A>T (p.Asp1051Val) rs2037238288
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=)
NM_025114.4(CEP290):c.3161C>T (p.Ser1054Phe)
NM_025114.4(CEP290):c.3162_3167del (p.Ile1055_Ser1056del) rs760503950
NM_025114.4(CEP290):c.3175A>C (p.Ile1059Leu)
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.3176dup (p.Thr1060fs) rs62640571
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.3181_3182del (p.Met1061fs) rs878853362
NM_025114.4(CEP290):c.3184C>T (p.Leu1062=) rs2137366862
NM_025114.4(CEP290):c.3187G>T (p.Glu1063Ter)
NM_025114.4(CEP290):c.318T>G (p.Gly106=) rs2138217159
NM_025114.4(CEP290):c.3190del (p.Glu1063_Met1064insTer) rs786205620
NM_025114.4(CEP290):c.3198A>T (p.Glu1066Asp)
NM_025114.4(CEP290):c.3200T>G (p.Leu1067Ter)
NM_025114.4(CEP290):c.3204T>C (p.Asn1068=)
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)
NM_025114.4(CEP290):c.3215G>A (p.Arg1072Gln) rs1298561837
NM_025114.4(CEP290):c.321A>T (p.Gly107=)
NM_025114.4(CEP290):c.3220G>T (p.Glu1074Ter) rs2037229663
NM_025114.4(CEP290):c.322C>A (p.Arg108=)
NM_025114.4(CEP290):c.3234_3235del (p.Lys1078fs)
NM_025114.4(CEP290):c.3235A>C (p.Met1079Leu)
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=)
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.3251G>A (p.Arg1084Gln)
NM_025114.4(CEP290):c.3252G>A (p.Arg1084=) rs2137363882
NM_025114.4(CEP290):c.3253A>G (p.Thr1085Ala)
NM_025114.4(CEP290):c.3265C>T (p.Gln1089Ter)
NM_025114.4(CEP290):c.3267A>G (p.Gln1089=)
NM_025114.4(CEP290):c.3278G>C (p.Arg1093Pro) rs1049569883
NM_025114.4(CEP290):c.3282T>G (p.Asn1094Lys) rs1565855129
NM_025114.4(CEP290):c.3285del (p.Phe1095fs) rs1017496924
NM_025114.4(CEP290):c.3286G>T (p.Glu1096Ter)
NM_025114.4(CEP290):c.3288A>G (p.Glu1096=)
NM_025114.4(CEP290):c.328A>G (p.Thr110Ala) rs750018041
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)
NM_025114.4(CEP290):c.3309+14A>C
NM_025114.4(CEP290):c.3309+16T>G
NM_025114.4(CEP290):c.3309+19T>C
NM_025114.4(CEP290):c.3309+2_3309+3dup rs886049881
NM_025114.4(CEP290):c.3309+8A>T rs2137362040
NM_025114.4(CEP290):c.3309G>A (p.Glu1103=)
NM_025114.4(CEP290):c.3310-13T>A
NM_025114.4(CEP290):c.3310-1G>A
NM_025114.4(CEP290):c.3310-1_3310delinsAA rs2037150824
NM_025114.4(CEP290):c.3310-21dup rs1555211687
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.3315C>T (p.Thr1105=)
NM_025114.4(CEP290):c.3321C>T (p.Ile1107=) rs2037149786
NM_025114.4(CEP290):c.3330T>C (p.Asp1110=)
NM_025114.4(CEP290):c.3334C>T (p.Gln1112Ter) rs2137344539
NM_025114.4(CEP290):c.3338A>C (p.Lys1113Thr) rs780796789
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.3352T>G (p.Leu1118Val)
NM_025114.4(CEP290):c.3355del (p.Arg1119fs)
NM_025114.4(CEP290):c.3359A>G (p.Asp1120Gly)
NM_025114.4(CEP290):c.3361G>T (p.Glu1121Ter)
NM_025114.4(CEP290):c.3363A>G (p.Glu1121=)
NM_025114.4(CEP290):c.3375T>A (p.Ser1125Arg)
NM_025114.4(CEP290):c.3378G>A (p.Val1126=) rs546939043
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)
NM_025114.4(CEP290):c.3399T>C (p.Ala1133=)
NM_025114.4(CEP290):c.3405G>A (p.Arg1135=)
NM_025114.4(CEP290):c.3410G>T (p.Arg1137Leu)
NM_025114.4(CEP290):c.3418G>A (p.Glu1140Lys) rs766095901
NM_025114.4(CEP290):c.3418G>C (p.Glu1140Gln)
NM_025114.4(CEP290):c.3418G>T (p.Glu1140Ter)
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.3446_3447del (p.Lys1149fs) rs386834155
NM_025114.4(CEP290):c.3448G>A (p.Val1150Ile) rs2137340972
NM_025114.4(CEP290):c.3449T>C (p.Val1150Ala) rs2037141100
NM_025114.4(CEP290):c.3451G>T (p.Glu1151Ter)
NM_025114.4(CEP290):c.345T>A (p.Asn115Lys)
NM_025114.4(CEP290):c.3460A>G (p.Lys1154Glu) rs753136596
NM_025114.4(CEP290):c.3461+10T>A
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
NM_025114.4(CEP290):c.3461+1G>A rs766952056
NM_025114.4(CEP290):c.3461+7G>T rs1565852636
NM_025114.4(CEP290):c.3461+8C>T rs1370236429
NM_025114.4(CEP290):c.3461+9A>G
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
NM_025114.4(CEP290):c.3462-16C>T
NM_025114.4(CEP290):c.3462-18T>C
NM_025114.4(CEP290):c.3462-19del
NM_025114.4(CEP290):c.3462-5C>T rs2036980891
NM_025114.4(CEP290):c.3462dup (p.Leu1155fs) rs2037140260
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)
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=)
NM_025114.4(CEP290):c.3493C>T (p.Gln1165Ter) rs2036977924
NM_025114.4(CEP290):c.3495A>G (p.Gln1165=)
NM_025114.4(CEP290):c.3497T>G (p.Val1166Gly)
NM_025114.4(CEP290):c.3499G>C (p.Glu1167Gln)
NM_025114.4(CEP290):c.3512C>G (p.Ala1171Gly) rs1183095802
NM_025114.4(CEP290):c.3513A>G (p.Ala1171=)
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.3517C>A (p.Gln1173Lys)
NM_025114.4(CEP290):c.3518A>C (p.Gln1173Pro) rs2137303851
NM_025114.4(CEP290):c.351T>C (p.Ile117=)
NM_025114.4(CEP290):c.3520C>T (p.Gln1174Ter) rs2036974151
NM_025114.4(CEP290):c.3528G>A (p.Arg1176=)
NM_025114.4(CEP290):c.3533A>G (p.Lys1178Arg) rs2137303115
NM_025114.4(CEP290):c.3533del (p.Lys1178fs) rs2036971853
NM_025114.4(CEP290):c.3534G>A (p.Lys1178=) rs756488924
NM_025114.4(CEP290):c.3537A>G (p.Glu1179=)
NM_025114.4(CEP290):c.3539T>C (p.Val1180Ala)
NM_025114.4(CEP290):c.3540A>G (p.Val1180=)
NM_025114.4(CEP290):c.3541G>C (p.Glu1181Gln) rs1466311097
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)
NM_025114.4(CEP290):c.3546C>A (p.Ser1182=)
NM_025114.4(CEP290):c.3546C>G (p.Ser1182=) rs760639256
NM_025114.4(CEP290):c.3546C>T (p.Ser1182=)
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.3553A>G (p.Met1185Val)
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)
NM_025114.4(CEP290):c.3572A>G (p.Gln1191Arg)
NM_025114.4(CEP290):c.3573+10G>T
NM_025114.4(CEP290):c.3573+13T>C rs2137301378
NM_025114.4(CEP290):c.3573+17C>A
NM_025114.4(CEP290):c.3573+1G>A
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
NM_025114.4(CEP290):c.3574-15T>G rs565414938
NM_025114.4(CEP290):c.3574-16_3574-15insA
NM_025114.4(CEP290):c.3574-16dup rs10717563
NM_025114.4(CEP290):c.3574-17A>G
NM_025114.4(CEP290):c.3574-19A>G rs2137281532
NM_025114.4(CEP290):c.3574-1G>A
NM_025114.4(CEP290):c.3574-20T>A
NM_025114.4(CEP290):c.3574-257dup rs1185071952
NM_025114.4(CEP290):c.3574-2A>G
NM_025114.4(CEP290):c.3574-5A>G rs2036853648
NM_025114.4(CEP290):c.3574-7A>T
NM_025114.4(CEP290):c.3574-7del
NM_025114.4(CEP290):c.3574-9T>A rs202038547
NM_025114.4(CEP290):c.3574-9T>G rs202038547
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.3577C>T (p.Gln1193Ter)
NM_025114.4(CEP290):c.3581C>T (p.Ser1194Phe) rs2036852568
NM_025114.4(CEP290):c.3591G>A (p.Lys1197=)
NM_025114.4(CEP290):c.3593C>A (p.Ser1198Ter) rs372640024
NM_025114.4(CEP290):c.3596del (p.Leu1199fs)
NM_025114.4(CEP290):c.3603C>T (p.Ala1201=)
NM_025114.4(CEP290):c.3605A>G (p.Lys1202Arg) rs375065584
NM_025114.4(CEP290):c.3605A>T (p.Lys1202Met) rs375065584
NM_025114.4(CEP290):c.3606_3615del (p.Lys1202fs)
NM_025114.4(CEP290):c.3608T>C (p.Leu1203Ser)
NM_025114.4(CEP290):c.3609G>A (p.Leu1203=)
NM_025114.4(CEP290):c.3617A>G (p.His1206Arg)
NM_025114.4(CEP290):c.361G>T (p.Glu121Ter) rs2138215714
NM_025114.4(CEP290):c.3624C>T (p.Val1208=) rs1331516324
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=)
NM_025114.4(CEP290):c.3633A>G (p.Gln1211=)
NM_025114.4(CEP290):c.3633_3637del (p.Gln1211_Leu1212insTer) rs2137279498
NM_025114.4(CEP290):c.3634C>A (p.Leu1212Met)
NM_025114.4(CEP290):c.3638G>C (p.Ser1213Thr)
NM_025114.4(CEP290):c.3643G>A (p.Ala1215Thr)
NM_025114.4(CEP290):c.3643_3652del (p.Ala1215fs)
NM_025114.4(CEP290):c.3650C>T (p.Ala1217Val)
NM_025114.4(CEP290):c.3651T>C (p.Ala1217=)
NM_025114.4(CEP290):c.3660G>A (p.Lys1220=)
NM_025114.4(CEP290):c.3669A>C (p.Ser1223=) rs968207045
NM_025114.4(CEP290):c.3669A>G (p.Ser1223=)
NM_025114.4(CEP290):c.366del (p.Lys122fs)
NM_025114.4(CEP290):c.3670A>G (p.Ile1224Val)
NM_025114.4(CEP290):c.3675A>C (p.Thr1225=) rs2036843900
NM_025114.4(CEP290):c.3675A>T (p.Thr1225=)
NM_025114.4(CEP290):c.3677C>T (p.Ser1226Phe)
NM_025114.4(CEP290):c.3682C>G (p.Leu1228Val) rs1282211647
NM_025114.4(CEP290):c.3693G>T (p.Met1231Ile)
NM_025114.4(CEP290):c.3697G>A (p.Ala1233Thr)
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=)
NM_025114.4(CEP290):c.3710G>T (p.Arg1237Leu) rs7307793
NM_025114.4(CEP290):c.3714A>G (p.Leu1238=)
NM_025114.4(CEP290):c.3721A>T (p.Lys1241Ter)
NM_025114.4(CEP290):c.3722A>G (p.Lys1241Arg)
NM_025114.4(CEP290):c.3723A>G (p.Lys1241=) rs1592856911
NM_025114.4(CEP290):c.3726T>G (p.Leu1242=) rs1592856883
NM_025114.4(CEP290):c.3729T>C (p.Asp1243=)
NM_025114.4(CEP290):c.372A>G (p.Leu124=)
NM_025114.4(CEP290):c.3730G>T (p.Glu1244Ter) rs2137277291
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.3736G>T (p.Glu1246Ter)
NM_025114.4(CEP290):c.3738del (p.Glu1246fs)
NM_025114.4(CEP290):c.3739C>T (p.Gln1247Ter)
NM_025114.4(CEP290):c.373G>A (p.Glu125Lys)
NM_025114.4(CEP290):c.373G>T (p.Glu125Ter) rs2040371663
NM_025114.4(CEP290):c.3741_3752dup (p.Tyr1251Ter)
NM_025114.4(CEP290):c.3744T>C (p.Ala1248=) rs2137276523
NM_025114.4(CEP290):c.3745C>T (p.Leu1249Phe)
NM_025114.4(CEP290):c.3745_3748del (p.Leu1249fs) rs2137276301
NM_025114.4(CEP290):c.3750_3753delinsA (p.Tyr1250_Tyr1251delinsTer)
NM_025114.4(CEP290):c.3756T>C (p.Ala1252=)
NM_025114.4(CEP290):c.3761dup (p.Leu1254fs) rs750520052
NM_025114.4(CEP290):c.3762G>C (p.Leu1254Phe) rs2036834615
NM_025114.4(CEP290):c.376C>A (p.Gln126Lys)
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=)
NM_025114.4(CEP290):c.3783del (p.Lys1261fs) rs2036833257
NM_025114.4(CEP290):c.3784_3785insTT (p.His1262fs) rs1064797171
NM_025114.4(CEP290):c.3785A>T (p.His1262Leu)
NM_025114.4(CEP290):c.3786_3798del (p.His1262fs)
NM_025114.4(CEP290):c.3787C>T (p.Leu1263=) rs370395204
NM_025114.4(CEP290):c.3799del (p.Ile1267fs)
NM_025114.4(CEP290):c.379A>C (p.Lys127Gln) rs781101346
NM_025114.4(CEP290):c.3803del (p.Gln1268fs) rs2036830890
NM_025114.4(CEP290):c.3807T>C (p.Ser1269=) rs1405878362
NM_025114.4(CEP290):c.3808C>G (p.Leu1270Val)
NM_025114.4(CEP290):c.3808_3809del (p.Leu1270fs) rs1565846034
NM_025114.4(CEP290):c.3810A>C (p.Leu1270=)
NM_025114.4(CEP290):c.3810A>T (p.Leu1270=)
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter) rs62640581
NM_025114.4(CEP290):c.3815G>A (p.Arg1272Gln)
NM_025114.4(CEP290):c.3818A>G (p.Gln1273Arg)
NM_025114.4(CEP290):c.381_382delinsT (p.Lys127fs) rs386834156
NM_025114.4(CEP290):c.381del (p.Asp128fs) rs1295893226
NM_025114.4(CEP290):c.3823A>G (p.Ser1275Gly)
NM_025114.4(CEP290):c.3825_3829del (p.Gly1276fs)
NM_025114.4(CEP290):c.3829G>C (p.Ala1277Pro)
NM_025114.4(CEP290):c.3829_3830delinsCT (p.Ala1277Leu) rs1565845877
NM_025114.4(CEP290):c.382G>C (p.Asp128His)
NM_025114.4(CEP290):c.382G>T (p.Asp128Tyr) rs755112866
NM_025114.4(CEP290):c.3830C>T (p.Ala1277Val)
NM_025114.4(CEP290):c.3831T>A (p.Ala1277=)
NM_025114.4(CEP290):c.3831T>C (p.Ala1277=)
NM_025114.4(CEP290):c.3832T>C (p.Leu1278=)
NM_025114.4(CEP290):c.3838_3840dup (p.Leu1280_Ala1281insLeu)
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.3850G>A (p.Glu1284Lys)
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)
NM_025114.4(CEP290):c.3867A>G (p.Thr1289=) rs1387223378
NM_025114.4(CEP290):c.3878T>G (p.Leu1293Arg)
NM_025114.4(CEP290):c.3879A>G (p.Leu1293=) rs2137272114
NM_025114.4(CEP290):c.3884dup (p.Asn1295fs)
NM_025114.4(CEP290):c.3885T>C (p.Asn1295=)
NM_025114.4(CEP290):c.3888C>T (p.Asp1296=) rs2137271829
NM_025114.4(CEP290):c.3894dup (p.Lys1299Ter) rs761907569
NM_025114.4(CEP290):c.3897_3901del (p.Lys1299fs)
NM_025114.4(CEP290):c.389A>G (p.Glu130Gly)
NM_025114.4(CEP290):c.38T>A (p.Val13Asp)
NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter) rs587783016
NM_025114.4(CEP290):c.3905A>C (p.Gln1302Pro) rs1064794650
NM_025114.4(CEP290):c.3909A>G (p.Glu1303=) rs2137271264
NM_025114.4(CEP290):c.3911_3915del (p.Met1304fs)
NM_025114.4(CEP290):c.3915A>G (p.Lys1305=)
NM_025114.4(CEP290):c.3917del (p.Asn1306fs)
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)
NM_025114.4(CEP290):c.3925C>T (p.Gln1309Ter) rs2036816455
NM_025114.4(CEP290):c.3930A>G (p.Glu1310=) rs775663498
NM_025114.4(CEP290):c.3931C>G (p.His1311Asp)
NM_025114.4(CEP290):c.3934A>T (p.Arg1312Ter) rs774705706
NM_025114.4(CEP290):c.3938A>T (p.Asn1313Ile)
NM_025114.4(CEP290):c.3943G>T (p.Glu1315Ter) rs886042020
NM_025114.4(CEP290):c.3944A>G (p.Glu1315Gly)
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.3949A>G (p.Lys1317Glu) rs2137270029
NM_025114.4(CEP290):c.3950A>C (p.Lys1317Thr) rs778137534
NM_025114.4(CEP290):c.3951_3977del (p.Thr1318_Lys1326del)
NM_025114.4(CEP290):c.3954A>G (p.Thr1318=)
NM_025114.4(CEP290):c.3956del (p.Leu1319fs) rs2137269723
NM_025114.4(CEP290):c.3962T>C (p.Met1321Thr) rs1346175871
NM_025114.4(CEP290):c.3967T>C (p.Leu1323=)
NM_025114.4(CEP290):c.3972A>G (p.Lys1324=) rs2137269381
NM_025114.4(CEP290):c.3980G>A (p.Gly1327Asp) rs959651787
NM_025114.4(CEP290):c.3980G>T (p.Gly1327Val) rs959651787
NM_025114.4(CEP290):c.3981C>G (p.Gly1327=)
NM_025114.4(CEP290):c.3987A>G (p.Glu1329=) rs1224624148
NM_025114.4(CEP290):c.3988G>T (p.Glu1330Ter)
NM_025114.4(CEP290):c.3992T>A (p.Leu1331Ter)
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=)
NM_025114.4(CEP290):c.4020A>C (p.Gly1340=)
NM_025114.4(CEP290):c.4028del (p.Lys1343fs) rs1213286417
NM_025114.4(CEP290):c.4029+14C>T
NM_025114.4(CEP290):c.4029+17G>A
NM_025114.4(CEP290):c.4029+17G>C
NM_025114.4(CEP290):c.4029+17G>T
NM_025114.4(CEP290):c.4029+1G>A rs2036808766
NM_025114.4(CEP290):c.4029+7A>G
NM_025114.4(CEP290):c.4030-11G>A
NM_025114.4(CEP290):c.4030-14A>T
NM_025114.4(CEP290):c.4030-2A>G rs2036722229
NM_025114.4(CEP290):c.4030-5del rs2137252186
NM_025114.4(CEP290):c.4033del (p.Ile1345fs)
NM_025114.4(CEP290):c.4035C>A (p.Ile1345=)
NM_025114.4(CEP290):c.4037A>G (p.Asn1346Ser)
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.4041G>A (p.Trp1347Ter) rs2137251821
NM_025114.4(CEP290):c.4043A>C (p.His1348Pro) rs1285246761
NM_025114.4(CEP290):c.4043A>G (p.His1348Arg)
NM_025114.4(CEP290):c.4044T>C (p.His1348=) rs771298371
NM_025114.4(CEP290):c.4045_4046del (p.Met1349fs) rs2036720274
NM_025114.4(CEP290):c.4050A>C (p.Lys1350Asn)
NM_025114.4(CEP290):c.4050A>G (p.Lys1350=)
NM_025114.4(CEP290):c.4054G>C (p.Glu1352Gln)
NM_025114.4(CEP290):c.4054GAA[1] (p.Glu1353del) rs2036719008
NM_025114.4(CEP290):c.4057G>T (p.Glu1353Ter)
NM_025114.4(CEP290):c.405A>G (p.Glu135=)
NM_025114.4(CEP290):c.4069C>T (p.Gln1357Ter)
NM_025114.4(CEP290):c.4071A>G (p.Gln1357=)
NM_025114.4(CEP290):c.4074A>G (p.Glu1358=) rs1031453040
NM_025114.4(CEP290):c.4076_4077del (p.Leu1359fs)
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.4081_4084del (p.Leu1361fs)
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)
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)
NM_025114.4(CEP290):c.4097T>G (p.Val1366Gly) rs1270381017
NM_025114.4(CEP290):c.4098C>A (p.Val1366=)
NM_025114.4(CEP290):c.4098C>T (p.Val1366=)
NM_025114.4(CEP290):c.40G>A (p.Asp14Asn) rs769179397
NM_025114.4(CEP290):c.4101G>A (p.Lys1367=)
NM_025114.4(CEP290):c.4102G>C (p.Asp1368His) rs184143186
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)
NM_025114.4(CEP290):c.4116A>C (p.Ile1372=) rs2137249532
NM_025114.4(CEP290):c.4119A>C (p.Lys1373Asn)
NM_025114.4(CEP290):c.4121del (p.Tyr1374fs)
NM_025114.4(CEP290):c.4124T>A (p.Leu1375Ter)
NM_025114.4(CEP290):c.412T>C (p.Leu138=)
NM_025114.4(CEP290):c.4133_4134del (p.Ile1378fs)
NM_025114.4(CEP290):c.4137T>C (p.Ile1379=)
NM_025114.4(CEP290):c.4142A>C (p.Glu1381Ala)
NM_025114.4(CEP290):c.4152T>A (p.Arg1384=) rs2137248717
NM_025114.4(CEP290):c.4159dup (p.Ser1387fs) rs1555208870
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=)
NM_025114.4(CEP290):c.4186C>T (p.Gln1396Ter) rs1459653241
NM_025114.4(CEP290):c.4187A>G (p.Gln1396Arg)
NM_025114.4(CEP290):c.4194+10T>C
NM_025114.4(CEP290):c.4194+11A>G
NM_025114.4(CEP290):c.4194+11A>T
NM_025114.4(CEP290):c.4194+13A>G
NM_025114.4(CEP290):c.4194+16T>C
NM_025114.4(CEP290):c.4194+17A>T
NM_025114.4(CEP290):c.4194+19T>G
NM_025114.4(CEP290):c.4194+1G>C
NM_025114.4(CEP290):c.4194+2T>A rs2137247685
NM_025114.4(CEP290):c.4194+5T>G
NM_025114.4(CEP290):c.4194+8T>G
NM_025114.4(CEP290):c.4194+8_4194+12del rs1223134777
NM_025114.4(CEP290):c.4195-13G>A
NM_025114.4(CEP290):c.4195-18A>G
NM_025114.4(CEP290):c.4195-19C>A
NM_025114.4(CEP290):c.4195-1G>T rs751807811
NM_025114.4(CEP290):c.4195-215_4195-214insGATGGATGGATGGATA rs770390958
NM_025114.4(CEP290):c.4195-3del
NM_025114.4(CEP290):c.4195-3dup
NM_025114.4(CEP290):c.4195-5T>C rs1014066992
NM_025114.4(CEP290):c.4195-8T>C rs2137221868
NM_025114.4(CEP290):c.41A>G (p.Asp14Gly) rs2138306044
NM_025114.4(CEP290):c.4200T>C (p.His1400=) rs2137221395
NM_025114.4(CEP290):c.4201G>T (p.Glu1401Ter)
NM_025114.4(CEP290):c.4205A>G (p.Glu1402Gly)
NM_025114.4(CEP290):c.4207del (p.Arg1403fs) rs2036582730
NM_025114.4(CEP290):c.420del (p.Glu141fs)
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)
NM_025114.4(CEP290):c.4239C>T (p.Asp1413=)
NM_025114.4(CEP290):c.4240C>T (p.Leu1414=)
NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter) rs797044604
NM_025114.4(CEP290):c.4247G>A (p.Arg1416His)
NM_025114.4(CEP290):c.4254A>G (p.Leu1418=)
NM_025114.4(CEP290):c.4257dup (p.Ile1420fs) rs1555208180
NM_025114.4(CEP290):c.4263T>C (p.Phe1421=) rs2137219486
NM_025114.4(CEP290):c.4263del (p.Phe1421fs) rs2137219551
NM_025114.4(CEP290):c.4267C>T (p.Arg1423Cys)
NM_025114.4(CEP290):c.4271A>C (p.Gln1424Pro)
NM_025114.4(CEP290):c.4276A>C (p.Asn1426His)
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.4294G>A (p.Ala1432Thr)
NM_025114.4(CEP290):c.4296A>C (p.Ala1432=)
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.4302+10A>G
NM_025114.4(CEP290):c.4302+12T>G
NM_025114.4(CEP290):c.4302+13A>G
NM_025114.4(CEP290):c.4302+15T>C rs886038696
NM_025114.4(CEP290):c.4302+19G>A
NM_025114.4(CEP290):c.4302+8T>C
NM_025114.4(CEP290):c.4302+9G>C rs2137217907
NM_025114.4(CEP290):c.4303-12A>G
NM_025114.4(CEP290):c.4303-16T>C
NM_025114.4(CEP290):c.4303-18C>A
NM_025114.4(CEP290):c.4303-18C>T
NM_025114.4(CEP290):c.4303-6T>C
NM_025114.4(CEP290):c.4303-7T>C
NM_025114.4(CEP290):c.4305T>C (p.Phe1435=) rs138095601
NM_025114.4(CEP290):c.4322C>G (p.Ser1441Ter)
NM_025114.4(CEP290):c.4324A>G (p.Ile1442Val)
NM_025114.4(CEP290):c.4326C>G (p.Ile1442Met)
NM_025114.4(CEP290):c.4326C>T (p.Ile1442=)
NM_025114.4(CEP290):c.4330G>A (p.Asp1444Asn)
NM_025114.4(CEP290):c.4338T>C (p.Ser1446=)
NM_025114.4(CEP290):c.4343C>T (p.Pro1448Leu)
NM_025114.4(CEP290):c.4348_4356delinsTC (p.Pro1450fs)
NM_025114.4(CEP290):c.434A>G (p.Asn145Ser)
NM_025114.4(CEP290):c.4356A>G (p.Gln1452=)
NM_025114.4(CEP290):c.4358T>C (p.Leu1453Pro)
NM_025114.4(CEP290):c.435T>C (p.Asn145=) rs2040367783
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)
NM_025114.4(CEP290):c.4380T>A (p.Ile1460=) rs1014763442
NM_025114.4(CEP290):c.4380T>C (p.Ile1460=)
NM_025114.4(CEP290):c.4384G>T (p.Glu1462Ter)
NM_025114.4(CEP290):c.4384del (p.Glu1462fs) rs863225182
NM_025114.4(CEP290):c.438G>A (p.Glu146=) rs2138213152
NM_025114.4(CEP290):c.43C>G (p.Pro15Ala) rs1425716932
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
NM_025114.4(CEP290):c.441+15T>G
NM_025114.4(CEP290):c.441+18del
NM_025114.4(CEP290):c.441+18dup
NM_025114.4(CEP290):c.441+1G>A
NM_025114.4(CEP290):c.441+1G>C
NM_025114.4(CEP290):c.4415C>A (p.Ala1472Glu)
NM_025114.4(CEP290):c.442-11del rs199511358
NM_025114.4(CEP290):c.442-14_442-11del
NM_025114.4(CEP290):c.442-17T>A rs2040048473
NM_025114.4(CEP290):c.442-18T>C
NM_025114.4(CEP290):c.442-19T>C rs113132803
NM_025114.4(CEP290):c.442-19_442-18insA
NM_025114.4(CEP290):c.442-1G>A
NM_025114.4(CEP290):c.442-20T>A
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.442-54del rs59949315
NM_025114.4(CEP290):c.442-7A>G rs1252546173
NM_025114.4(CEP290):c.442-8T>G
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.4437+10A>C
NM_025114.4(CEP290):c.4437+11G>T
NM_025114.4(CEP290):c.4437+17G>A
NM_025114.4(CEP290):c.4437+72_4437+75del rs199937112
NM_025114.4(CEP290):c.4437+7A>T rs2137210220
NM_025114.4(CEP290):c.4438-10A>C
NM_025114.4(CEP290):c.4438-12T>C
NM_025114.4(CEP290):c.4438-13_4438-9del
NM_025114.4(CEP290):c.4438-17T>C
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.4446A>G (p.Lys1482=)
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs) rs780624853
NM_025114.4(CEP290):c.4453G>T (p.Glu1485Ter)
NM_025114.4(CEP290):c.4454A>C (p.Glu1485Ala)
NM_025114.4(CEP290):c.4473A>G (p.Ala1491=)
NM_025114.4(CEP290):c.447T>A (p.Ala149=) rs2138114644
NM_025114.4(CEP290):c.447T>C (p.Ala149=)
NM_025114.4(CEP290):c.447T>G (p.Ala149=)
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)
NM_025114.4(CEP290):c.4490C>A (p.Ser1497Ter) rs1345994179
NM_025114.4(CEP290):c.4496A>T (p.Asp1499Val) rs2036455482
NM_025114.4(CEP290):c.4506C>T (p.Ile1502=) rs1592837830
NM_025114.4(CEP290):c.4507A>C (p.Asn1503His)
NM_025114.4(CEP290):c.4510G>A (p.Glu1504Lys) rs886043748
NM_025114.4(CEP290):c.4512A>G (p.Glu1504=) rs1177088224
NM_025114.4(CEP290):c.4513C>T (p.Leu1505=) rs1481340734
NM_025114.4(CEP290):c.4515G>A (p.Leu1505=)
NM_025114.4(CEP290):c.4517G>C (p.Arg1506Thr) rs1266234548
NM_025114.4(CEP290):c.4535del (p.Thr1512fs)
NM_025114.4(CEP290):c.4539A>C (p.Ala1513=) rs750049263
NM_025114.4(CEP290):c.4539A>G (p.Ala1513=)
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.4548A>G (p.Glu1516=) rs2137186609
NM_025114.4(CEP290):c.454A>G (p.Asn152Asp)
NM_025114.4(CEP290):c.4551G>A (p.Lys1517=)
NM_025114.4(CEP290):c.4555A>G (p.Ile1519Val) rs200817579
NM_025114.4(CEP290):c.4561G>T (p.Glu1521Ter)
NM_025114.4(CEP290):c.4562dup (p.Leu1522fs)
NM_025114.4(CEP290):c.4566A>C (p.Leu1522=) rs763991371
NM_025114.4(CEP290):c.4569C>T (p.Gly1523=)
NM_025114.4(CEP290):c.4576G>T (p.Glu1526Ter)
NM_025114.4(CEP290):c.4578G>A (p.Glu1526=) rs775294433
NM_025114.4(CEP290):c.457G>T (p.Glu153Ter)
NM_025114.4(CEP290):c.4586C>G (p.Pro1529Arg) rs759438587
NM_025114.4(CEP290):c.4590A>G (p.Lys1530=)
NM_025114.4(CEP290):c.4599C>T (p.His1533=) rs932264519
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.4603T>C (p.Leu1535=)
NM_025114.4(CEP290):c.4604T>C (p.Leu1535Ser) rs2137184439
NM_025114.4(CEP290):c.4614T>G (p.Ala1538=)
NM_025114.4(CEP290):c.4614_4615delinsCT (p.His1539Tyr)
NM_025114.4(CEP290):c.4619A>C (p.Gln1540Pro)
NM_025114.4(CEP290):c.4619A>G (p.Gln1540Arg)
NM_025114.4(CEP290):c.4621del (p.Thr1541fs) rs587779733
NM_025114.4(CEP290):c.4628C>T (p.Ala1543Val) rs2036441054
NM_025114.4(CEP290):c.4629A>C (p.Ala1543=) rs2137183853
NM_025114.4(CEP290):c.462G>A (p.Glu154=)
NM_025114.4(CEP290):c.4631A>T (p.Asn1544Ile)
NM_025114.4(CEP290):c.4634_4637dup (p.Gln1546fs)
NM_025114.4(CEP290):c.4636C>T (p.Gln1546Ter)
NM_025114.4(CEP290):c.4638A>G (p.Gln1546=)
NM_025114.4(CEP290):c.4638A>T (p.Gln1546His)
NM_025114.4(CEP290):c.463G>A (p.Ala155Thr) rs2138114070
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)
NM_025114.4(CEP290):c.4653A>G (p.Gln1551=) rs2137183063
NM_025114.4(CEP290):c.4654_4659del (p.Lys1552_Glu1553del) rs1555207186
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del) rs757309583
NM_025114.4(CEP290):c.4656del (p.Glu1553fs) rs62640572
NM_025114.4(CEP290):c.4661A>T (p.Glu1554Val)
NM_025114.4(CEP290):c.4674G>T (p.Lys1558Asn)
NM_025114.4(CEP290):c.4676A>G (p.Tyr1559Cys)
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.467A>G (p.Glu156Gly) rs2138113947
NM_025114.4(CEP290):c.4680A>G (p.Gln1560=)
NM_025114.4(CEP290):c.4682G>A (p.Arg1561His) rs371157150
NM_025114.4(CEP290):c.4682G>C (p.Arg1561Pro)
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.468A>G (p.Glu156=) rs967600444
NM_025114.4(CEP290):c.4692A>G (p.Glu1564=) rs2137181983
NM_025114.4(CEP290):c.4693A>G (p.Lys1565Glu)
NM_025114.4(CEP290):c.46G>C (p.Asp16His) rs2040641439
NM_025114.4(CEP290):c.4700G>C (p.Arg1567Thr)
NM_025114.4(CEP290):c.4701A>G (p.Arg1567=) rs2137181574
NM_025114.4(CEP290):c.4704+11A>T
NM_025114.4(CEP290):c.4704+12T>C rs2137181292
NM_025114.4(CEP290):c.4704+13_4704+17del
NM_025114.4(CEP290):c.4704+19A>C
NM_025114.4(CEP290):c.4704+1G>A
NM_025114.4(CEP290):c.4704+1G>T rs1565835538
NM_025114.4(CEP290):c.4704+264del rs5799853
NM_025114.4(CEP290):c.4704+3A>G
NM_025114.4(CEP290):c.4704+46del rs11356711
NM_025114.4(CEP290):c.4704+7T>C
NM_025114.4(CEP290):c.4704G>C (p.Glu1568Asp) rs1592836704
NM_025114.4(CEP290):c.4705-12T>C
NM_025114.4(CEP290):c.4705-15T>C
NM_025114.4(CEP290):c.4705-17G>A
NM_025114.4(CEP290):c.4705-19T>G
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.4711A>G (p.Arg1571Gly)
NM_025114.4(CEP290):c.4714G>A (p.Glu1572Lys) rs1292516576
NM_025114.4(CEP290):c.4714G>T (p.Glu1572Ter) rs1292516576
NM_025114.4(CEP290):c.4714_4715del (p.Glu1572fs)
NM_025114.4(CEP290):c.4716A>C (p.Glu1572Asp) rs780960290
NM_025114.4(CEP290):c.4717A>T (p.Ile1573Phe)
NM_025114.4(CEP290):c.471T>C (p.Asn157=)
NM_025114.4(CEP290):c.4726A>G (p.Lys1576Glu) rs1203769698
NM_025114.4(CEP290):c.4732G>T (p.Glu1578Ter) rs62640573
NM_025114.4(CEP290):c.4737A>G (p.Glu1579=) rs2137169332
NM_025114.4(CEP290):c.4737del (p.Asp1580fs) rs1304430926
NM_025114.4(CEP290):c.4739A>G (p.Asp1580Gly)
NM_025114.4(CEP290):c.473A>G (p.Glu158Gly)
NM_025114.4(CEP290):c.4745A>G (p.His1582Arg)
NM_025114.4(CEP290):c.4758C>T (p.His1586=) rs896218309
NM_025114.4(CEP290):c.4763T>G (p.Leu1588Ter) rs760653238
NM_025114.4(CEP290):c.476del (p.Asn159fs)
NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter) rs62640574
NM_025114.4(CEP290):c.4771del (p.Gln1591fs)
NM_025114.4(CEP290):c.4777G>A (p.Asp1593Asn) rs1201073418
NM_025114.4(CEP290):c.4785A>C (p.Ser1595=)
NM_025114.4(CEP290):c.4785A>G (p.Ser1595=)
NM_025114.4(CEP290):c.4788A>G (p.Leu1596=) rs775682517
NM_025114.4(CEP290):c.4790A>G (p.Asn1597Ser) rs1352598713
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs) rs1592833648
NM_025114.4(CEP290):c.4794A>G (p.Lys1598=) rs760100036
NM_025114.4(CEP290):c.4795T>C (p.Phe1599Leu)
NM_025114.4(CEP290):c.4798A>T (p.Lys1600Ter)
NM_025114.4(CEP290):c.4801C>T (p.Gln1601Ter) rs878853361
NM_025114.4(CEP290):c.4806G>C (p.Thr1602=)
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.4811G>A (p.Trp1604Ter) rs886039808
NM_025114.4(CEP290):c.4812+15A>T rs1011820485
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
NM_025114.4(CEP290):c.4812G>T (p.Trp1604Cys)
NM_025114.4(CEP290):c.4813-10T>C
NM_025114.4(CEP290):c.4813-11A>G
NM_025114.4(CEP290):c.4813-4A>G rs2036324053
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
NM_025114.4(CEP290):c.4815T>C (p.Asp1605=) rs2137156688
NM_025114.4(CEP290):c.4819A>T (p.Met1607Leu)
NM_025114.4(CEP290):c.4820dup (p.Met1607fs)
NM_025114.4(CEP290):c.4825C>T (p.Gln1609Ter) rs2137156392
NM_025114.4(CEP290):c.4825_4826del (p.Gln1609fs)
NM_025114.4(CEP290):c.4832C>T (p.Pro1611Leu)
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)
NM_025114.4(CEP290):c.4840G>T (p.Val1614Phe)
NM_025114.4(CEP290):c.4844C>G (p.Pro1615Arg)
NM_025114.4(CEP290):c.4848C>A (p.Thr1616=)
NM_025114.4(CEP290):c.4855dup (p.His1619fs)
NM_025114.4(CEP290):c.4857T>C (p.His1619=)
NM_025114.4(CEP290):c.4860_4866delinsA (p.Phe1620_Arg1622delinsLeu)
NM_025114.4(CEP290):c.4860del (p.Phe1620fs) rs2137155245
NM_025114.4(CEP290):c.4864C>T (p.Arg1622Cys)
NM_025114.4(CEP290):c.4864_4865delinsT (p.Arg1622fs) rs2036318355
NM_025114.4(CEP290):c.4867C>T (p.Leu1623=)
NM_025114.4(CEP290):c.4877T>C (p.Met1626Thr) rs1413188289
NM_025114.4(CEP290):c.4879G>T (p.Glu1627Ter)
NM_025114.4(CEP290):c.4879dup (p.Glu1627fs)
NM_025114.4(CEP290):c.4882C>A (p.Gln1628Lys)
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.4889T>C (p.Val1630Ala)
NM_025114.4(CEP290):c.4894G>A (p.Glu1632Lys) rs916470951
NM_025114.4(CEP290):c.4897C>T (p.Gln1633Ter)
NM_025114.4(CEP290):c.4899A>G (p.Gln1633=)
NM_025114.4(CEP290):c.4908T>G (p.Ser1636=)
NM_025114.4(CEP290):c.4909_4910del (p.Leu1637fs)
NM_025114.4(CEP290):c.4910T>C (p.Leu1637Pro)
NM_025114.4(CEP290):c.4914C>T (p.Ser1638=) rs2137153390
NM_025114.4(CEP290):c.4916C>A (p.Ser1639Ter)
NM_025114.4(CEP290):c.4923G>T (p.Leu1641Phe)
NM_025114.4(CEP290):c.4926C>A (p.Val1642=)
NM_025114.4(CEP290):c.4926C>G (p.Val1642=)
NM_025114.4(CEP290):c.4931T>A (p.Leu1644Gln) rs763470977
NM_025114.4(CEP290):c.4933A>T (p.Lys1645Ter)
NM_025114.4(CEP290):c.4943C>G (p.Ser1648Ter)
NM_025114.4(CEP290):c.4943_4944insTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCCACAGCCAATATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAAGTATC (p.Gln1649_Asp1650insTerGln)
NM_025114.4(CEP290):c.4944A>G (p.Ser1648=)
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+16A>G
NM_025114.4(CEP290):c.495+7A>T rs2138113223
NM_025114.4(CEP290):c.495+8dup
NM_025114.4(CEP290):c.495+9T>A
NM_025114.4(CEP290):c.495+9T>G rs2138113170
NM_025114.4(CEP290):c.4950T>C (p.Asp1650=)
NM_025114.4(CEP290):c.4954G>T (p.Glu1652Ter)
NM_025114.4(CEP290):c.496-12C>T rs2138102416
NM_025114.4(CEP290):c.4960C>T (p.Gln1654Ter) rs1226324483
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs) rs764309755
NM_025114.4(CEP290):c.4963del (p.Arg1655fs)
NM_025114.4(CEP290):c.4966_4967del (p.Glu1656fs) rs756302731
NM_025114.4(CEP290):c.4977A>G (p.Glu1659=)
NM_025114.4(CEP290):c.4983A>G (p.Lys1661=)
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=)
NM_025114.4(CEP290):c.4990G>T (p.Glu1664Ter)
NM_025114.4(CEP290):c.4995T>C (p.Phe1665=)
NM_025114.4(CEP290):c.4995T>G (p.Phe1665Leu)
NM_025114.4(CEP290):c.4997A>G (p.Glu1666Gly) rs566018288
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=)
NM_025114.4(CEP290):c.5011C>T (p.Gln1671Ter)
NM_025114.4(CEP290):c.5012+13A>G
NM_025114.4(CEP290):c.5012+19T>C
NM_025114.4(CEP290):c.5012+1G>A
NM_025114.4(CEP290):c.5012+20T>A
NM_025114.4(CEP290):c.5012+20T>C
NM_025114.4(CEP290):c.5012+2T>G
NM_025114.4(CEP290):c.5012+5G>A
NM_025114.4(CEP290):c.5012+7C>A
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.5013-19A>G
NM_025114.4(CEP290):c.5013-1G>A
NM_025114.4(CEP290):c.5013-20C>T rs1299195353
NM_025114.4(CEP290):c.5013-30CA[5] rs759447937
NM_025114.4(CEP290):c.5013-30CA[7]
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.5023A>G (p.Asn1675Asp) rs886049880
NM_025114.4(CEP290):c.5025C>T (p.Asn1675=)
NM_025114.4(CEP290):c.5027A>T (p.His1676Leu)
NM_025114.4(CEP290):c.5029_5030del (p.Glu1677fs)
NM_025114.4(CEP290):c.502C>T (p.Arg168Cys) rs760856790
NM_025114.4(CEP290):c.5032G>C (p.Asp1678His)
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.5046del (p.Lys1682_Val1683insTer)
NM_025114.4(CEP290):c.504T>C (p.Arg168=) rs2138101728
NM_025114.4(CEP290):c.5055G>T (p.Ala1685=)
NM_025114.4(CEP290):c.5056G>A (p.Glu1686Lys)
NM_025114.4(CEP290):c.5056G>C (p.Glu1686Gln)
NM_025114.4(CEP290):c.5057A>G (p.Glu1686Gly)
NM_025114.4(CEP290):c.5067T>C (p.Asp1689=) rs2137105805
NM_025114.4(CEP290):c.5070A>C (p.Leu1690Phe)
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.5085C>G (p.Asp1695Glu)
NM_025114.4(CEP290):c.5086C>G (p.Gln1696Glu) rs2036106218
NM_025114.4(CEP290):c.5086C>T (p.Gln1696Ter)
NM_025114.4(CEP290):c.5091A>G (p.Ser1697=)
NM_025114.4(CEP290):c.5092C>T (p.Gln1698Ter)
NM_025114.4(CEP290):c.5097G>A (p.Lys1699=)
NM_025114.4(CEP290):c.5098G>T (p.Glu1700Ter)
NM_025114.4(CEP290):c.5099A>G (p.Glu1700Gly) rs886049879
NM_025114.4(CEP290):c.5100G>A (p.Glu1700=) rs2137104806
NM_025114.4(CEP290):c.5101T>C (p.Ser1701Pro)
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=)
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=)
NM_025114.4(CEP290):c.5130del (p.Gln1711fs)
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)
NM_025114.4(CEP290):c.5143A>G (p.Asn1715Asp) rs1565827241
NM_025114.4(CEP290):c.5145T>G (p.Asn1715Lys) rs568619750
NM_025114.4(CEP290):c.5147C>A (p.Ser1716Ter)
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)
NM_025114.4(CEP290):c.516+10T>G rs2138101103
NM_025114.4(CEP290):c.516+12A>C
NM_025114.4(CEP290):c.516+13G>A
NM_025114.4(CEP290):c.516+15G>A
NM_025114.4(CEP290):c.516+19T>A
NM_025114.4(CEP290):c.516+1G>A
NM_025114.4(CEP290):c.516+9T>C rs771222198
NM_025114.4(CEP290):c.5166A>G (p.Thr1722=) rs970862392
NM_025114.4(CEP290):c.517-18G>T
NM_025114.4(CEP290):c.517-55G>A rs7309960
NM_025114.4(CEP290):c.517-5T>G
NM_025114.4(CEP290):c.517-6C>T
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=)
NM_025114.4(CEP290):c.5190A>G (p.Leu1730=) rs1203367950
NM_025114.4(CEP290):c.5192dup (p.Ser1732fs)
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=)
NM_025114.4(CEP290):c.51C>T (p.Asp17=) rs2138305629
NM_025114.4(CEP290):c.5201_5202del (p.Leu1734fs)
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=)
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)
NM_025114.4(CEP290):c.5219A>C (p.Gln1740Pro)
NM_025114.4(CEP290):c.5221C>T (p.Gln1741Ter)
NM_025114.4(CEP290):c.5223_5224del (p.Lys1742fs)
NM_025114.4(CEP290):c.5225A>G (p.Lys1742Arg)
NM_025114.4(CEP290):c.5226+11_5226+13del
NM_025114.4(CEP290):c.5226+12_5226+16del
NM_025114.4(CEP290):c.5226+134T>C rs2468246
NM_025114.4(CEP290):c.5226+18A>C
NM_025114.4(CEP290):c.5226+5_5226+8del rs1353301232
NM_025114.4(CEP290):c.5226+6T>G
NM_025114.4(CEP290):c.5226+6_5226+7insGG
NM_025114.4(CEP290):c.5226+7A>G rs2036089729
NM_025114.4(CEP290):c.5226+7_5226+8insC
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
NM_025114.4(CEP290):c.5227-115_5227-113del rs150619947
NM_025114.4(CEP290):c.5227-13G>C
NM_025114.4(CEP290):c.5227-14del rs747878752
NM_025114.4(CEP290):c.5227-15T>G
NM_025114.4(CEP290):c.5227-23dup rs747878752
NM_025114.4(CEP290):c.5227-2A>G
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)
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=)
NM_025114.4(CEP290):c.5242del (p.Leu1748fs)
NM_025114.4(CEP290):c.5250A>G (p.Glu1750=)
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=)
NM_025114.4(CEP290):c.525A>G (p.Gln175=) rs2039993836
NM_025114.4(CEP290):c.5263A>G (p.Met1755Val)
NM_025114.4(CEP290):c.5268A>G (p.Thr1756=)
NM_025114.4(CEP290):c.5277T>C (p.Ala1759=)
NM_025114.4(CEP290):c.5277dup (p.Glu1760Ter)
NM_025114.4(CEP290):c.5282A>G (p.Glu1761Gly)
NM_025114.4(CEP290):c.5287A>C (p.Ile1763Leu)
NM_025114.4(CEP290):c.5298A>C (p.Ala1766=) rs2137081487
NM_025114.4(CEP290):c.5299A>G (p.Thr1767Ala)
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)
NM_025114.4(CEP290):c.5313G>A (p.Glu1771=) rs2137081165
NM_025114.4(CEP290):c.5319T>C (p.His1773=)
NM_025114.4(CEP290):c.5324A>G (p.Asn1775Ser) rs527586777
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.5341G>A (p.Asp1781Asn)
NM_025114.4(CEP290):c.5343T>G (p.Asp1781Glu)
NM_025114.4(CEP290):c.5345G>A (p.Arg1782Gln)
NM_025114.4(CEP290):c.5346A>G (p.Arg1782=)
NM_025114.4(CEP290):c.5348_5351del (p.His1783fs) rs2137080156
NM_025114.4(CEP290):c.534G>A (p.Gln178=)
NM_025114.4(CEP290):c.5364+14C>A
NM_025114.4(CEP290):c.5364+14C>T
NM_025114.4(CEP290):c.5364+15G>A
NM_025114.4(CEP290):c.5364+17G>A
NM_025114.4(CEP290):c.5364+3G>A
NM_025114.4(CEP290):c.5364+8T>A rs2137079741
NM_025114.4(CEP290):c.5364+8T>G
NM_025114.4(CEP290):c.5364+9C>T rs2137079700
NM_025114.4(CEP290):c.5365-12T>G
NM_025114.4(CEP290):c.5365-17dup
NM_025114.4(CEP290):c.5365-8C>T
NM_025114.4(CEP290):c.5365-9T>C
NM_025114.4(CEP290):c.5366C>T (p.Thr1789Ile) rs2035901966
NM_025114.4(CEP290):c.5367A>T (p.Thr1789=)
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)
NM_025114.4(CEP290):c.5409A>G (p.Glu1803=)
NM_025114.4(CEP290):c.5410G>C (p.Ala1804Pro)
NM_025114.4(CEP290):c.5415del (p.Thr1807fs) rs1592808035
NM_025114.4(CEP290):c.5416A>T (p.Lys1806Ter)
NM_025114.4(CEP290):c.5418_5422del (p.Lys1806_Thr1807insTer)
NM_025114.4(CEP290):c.5421A>C (p.Thr1807=)
NM_025114.4(CEP290):c.5423_5426del (p.Ser1808fs)
NM_025114.4(CEP290):c.5424T>C (p.Ser1808=) rs62640575
NM_025114.4(CEP290):c.5428A>G (p.Asn1810Asp) rs1351470304
NM_025114.4(CEP290):c.5432G>A (p.Arg1811Lys)
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=)
NM_025114.4(CEP290):c.5460T>C (p.Asn1820=)
NM_025114.4(CEP290):c.5468A>G (p.Asn1823Ser)
NM_025114.4(CEP290):c.5468_5471del (p.Asn1823fs)
NM_025114.4(CEP290):c.5476C>A (p.Leu1826Met)
NM_025114.4(CEP290):c.5483A>G (p.Lys1828Arg)
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.5499T>C (p.Tyr1833=)
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)
NM_025114.4(CEP290):c.5508A>T (p.Ile1836=)
NM_025114.4(CEP290):c.5509_5512del (p.Leu1837fs)
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=)
NM_025114.4(CEP290):c.5519_5537del (p.Lys1840fs)
NM_025114.4(CEP290):c.5527A>G (p.Ile1843Val)
NM_025114.4(CEP290):c.5529T>A (p.Ile1843=)
NM_025114.4(CEP290):c.552G>A (p.Gln184=)
NM_025114.4(CEP290):c.5535A>G (p.Gln1845=)
NM_025114.4(CEP290):c.5538G>A (p.Glu1846=)
NM_025114.4(CEP290):c.5549T>C (p.Leu1850Pro) rs1176131735
NM_025114.4(CEP290):c.5557C>T (p.Gln1853Ter)
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)
NM_025114.4(CEP290):c.5573C>T (p.Thr1858Ile)
NM_025114.4(CEP290):c.5574C>G (p.Thr1858=)
NM_025114.4(CEP290):c.5574C>T (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=)
NM_025114.4(CEP290):c.5582T>A (p.Leu1861Ter) rs2137056192
NM_025114.4(CEP290):c.5583A>C (p.Leu1861Phe)
NM_025114.4(CEP290):c.5584C>T (p.Gln1862Ter)
NM_025114.4(CEP290):c.5586+12T>C
NM_025114.4(CEP290):c.5586+14T>G
NM_025114.4(CEP290):c.5586+17C>T rs2137055900
NM_025114.4(CEP290):c.5586+19C>T
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
NM_025114.4(CEP290):c.5587-14_5588del
NM_025114.4(CEP290):c.5587-15C>T
NM_025114.4(CEP290):c.5587-16dup
NM_025114.4(CEP290):c.5587-19G>A
NM_025114.4(CEP290):c.5587-7T>A
NM_025114.4(CEP290):c.5587-8T>C rs886049878
NM_025114.4(CEP290):c.5587-9A>C rs2035856064
NM_025114.4(CEP290):c.558_561del (p.Asp188fs)
NM_025114.4(CEP290):c.5596del (p.Pro1865_Leu1866insTer)
NM_025114.4(CEP290):c.5599A>G (p.Thr1867Ala)
NM_025114.4(CEP290):c.5605A>C (p.Asn1869His)
NM_025114.4(CEP290):c.5607T>C (p.Asn1869=) rs777353443
NM_025114.4(CEP290):c.560T>C (p.Ile187Thr)
NM_025114.4(CEP290):c.560_561insTT (p.Ile187_Asp188insTer)
NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs) rs727503853
NM_025114.4(CEP290):c.5614del (p.Ser1872fs)
NM_025114.4(CEP290):c.5619A>G (p.Leu1873=) rs2035852547
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=)
NM_025114.4(CEP290):c.5648A>C (p.Lys1883Thr)
NM_025114.4(CEP290):c.5649A>G (p.Lys1883=) rs2137050153
NM_025114.4(CEP290):c.5649dup (p.Leu1884fs) rs281865188
NM_025114.4(CEP290):c.5658C>T (p.Asn1886=)
NM_025114.4(CEP290):c.5659C>A (p.Gln1887Lys)
NM_025114.4(CEP290):c.5676G>A (p.Val1892=) rs2137049568
NM_025114.4(CEP290):c.5677G>A (p.Glu1893Lys)
NM_025114.4(CEP290):c.567A>G (p.Ser189=)
NM_025114.4(CEP290):c.5682A>G (p.Glu1894=)
NM_025114.4(CEP290):c.5684T>C (p.Val1895Ala)
NM_025114.4(CEP290):c.5689C>T (p.Leu1897=) rs2137049271
NM_025114.4(CEP290):c.5691A>G (p.Leu1897=)
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.5704G>T (p.Glu1902Ter) rs267606719
NM_025114.4(CEP290):c.5707A>T (p.Lys1903Ter) rs878855334
NM_025114.4(CEP290):c.5709+12A>T
NM_025114.4(CEP290):c.5709+14C>A
NM_025114.4(CEP290):c.5709+17A>C
NM_025114.4(CEP290):c.5709+1G>A rs759850328
NM_025114.4(CEP290):c.5709+2T>G
NM_025114.4(CEP290):c.5709+45G>C rs45477793
NM_025114.4(CEP290):c.5709+7G>A
NM_025114.4(CEP290):c.5710-13G>A
NM_025114.4(CEP290):c.5710-18C>G
NM_025114.4(CEP290):c.5710-3C>G rs1555202126
NM_025114.4(CEP290):c.5710-7_5710-5del
NM_025114.4(CEP290):c.5710-9T>C
NM_025114.4(CEP290):c.5714del (p.Ala1905fs) rs2136966486
NM_025114.4(CEP290):c.5715T>C (p.Ala1905=)
NM_025114.4(CEP290):c.5722G>T (p.Glu1908Ter)
NM_025114.4(CEP290):c.5726T>G (p.Leu1909Ter)
NM_025114.4(CEP290):c.5728_5731del (p.Ile1910fs) rs754728136
NM_025114.4(CEP290):c.5733G>T (p.Arg1911Ser) rs1565813077
NM_025114.4(CEP290):c.5739A>G (p.Glu1913=)
NM_025114.4(CEP290):c.5740G>T (p.Glu1914Ter) rs2035405646
NM_025114.4(CEP290):c.5742A>C (p.Glu1914Asp) rs2035405223
NM_025114.4(CEP290):c.5745T>C (p.Gly1915=) rs2035404611
NM_025114.4(CEP290):c.574_577del (p.Glu192fs)
NM_025114.4(CEP290):c.5750del (p.Lys1917fs)
NM_025114.4(CEP290):c.5754G>A (p.Trp1918Ter)
NM_025114.4(CEP290):c.5757A>G (p.Gln1919=)
NM_025114.4(CEP290):c.5766A>T (p.Ile1922=) rs1027531979
NM_025114.4(CEP290):c.5766_5769del (p.Ile1922fs)
NM_025114.4(CEP290):c.5775T>C (p.Ile1925=)
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)
NM_025114.4(CEP290):c.5790del (p.Glu1931fs) rs2136964542
NM_025114.4(CEP290):c.5791_5794del (p.Glu1931fs) rs2136964385
NM_025114.4(CEP290):c.5794A>T (p.Lys1932Ter)
NM_025114.4(CEP290):c.5796A>G (p.Lys1932=)
NM_025114.4(CEP290):c.5798_5799del (p.Glu1933fs)
NM_025114.4(CEP290):c.5799G>A (p.Glu1933=) rs2136964287
NM_025114.4(CEP290):c.579_580del (p.Leu194fs)
NM_025114.4(CEP290):c.57C>G (p.Pro19=)
NM_025114.4(CEP290):c.57C>T (p.Pro19=)
NM_025114.4(CEP290):c.5801G>A (p.Gly1934Glu)
NM_025114.4(CEP290):c.5802G>A (p.Gly1934=)
NM_025114.4(CEP290):c.5803G>A (p.Glu1935Lys)
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter) rs886042360
NM_025114.4(CEP290):c.5803del (p.Glu1935fs)
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)
NM_025114.4(CEP290):c.5810T>C (p.Phe1937Ser) rs2035398253
NM_025114.4(CEP290):c.5811T>C (p.Phe1937=)
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)
NM_025114.4(CEP290):c.5822del (p.Lys1941fs)
NM_025114.4(CEP290):c.5823G>A (p.Lys1941=)
NM_025114.4(CEP290):c.5824C>A (p.Gln1942Lys)
NM_025114.4(CEP290):c.5824C>T (p.Gln1942Ter)
NM_025114.4(CEP290):c.5825A>G (p.Gln1942Arg)
NM_025114.4(CEP290):c.5828del (p.Gln1942_Leu1943insTer)
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.5835T>C (p.Thr1945=)
NM_025114.4(CEP290):c.5838G>A (p.Leu1946=)
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.5842G>T (p.Asp1948Tyr) rs886049877
NM_025114.4(CEP290):c.584T>G (p.Leu195Ter)
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=)
NM_025114.4(CEP290):c.5854A>T (p.Lys1952Ter) rs2035393800
NM_025114.4(CEP290):c.5855+11A>C
NM_025114.4(CEP290):c.5855+11A>G
NM_025114.4(CEP290):c.5855+18T>A
NM_025114.4(CEP290):c.5855+18_5855+20del rs1442503417
NM_025114.4(CEP290):c.5855+1G>A
NM_025114.4(CEP290):c.5855+2T>G
NM_025114.4(CEP290):c.5856-13T>C
NM_025114.4(CEP290):c.5856-14A>G
NM_025114.4(CEP290):c.5856-16A>C
NM_025114.4(CEP290):c.5856-16A>G
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
NM_025114.4(CEP290):c.585A>G (p.Leu195=) rs2138096227
NM_025114.4(CEP290):c.5868G>A (p.Glu1956=)
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)
NM_025114.4(CEP290):c.5889A>G (p.Lys1963=)
NM_025114.4(CEP290):c.5892A>G (p.Leu1964=) rs2136957684
NM_025114.4(CEP290):c.5899A>G (p.Thr1967Ala)
NM_025114.4(CEP290):c.58C>T (p.Arg20Cys) rs779867970
NM_025114.4(CEP290):c.5901T>C (p.Thr1967=)
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=)
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.593G>T (p.Arg198Ile)
NM_025114.4(CEP290):c.5943G>A (p.Glu1981=)
NM_025114.4(CEP290):c.5944T>A (p.Ser1982Thr) rs2035360147
NM_025114.4(CEP290):c.594A>G (p.Arg198=)
NM_025114.4(CEP290):c.5953G>T (p.Glu1985Ter)
NM_025114.4(CEP290):c.5953del (p.Glu1985fs)
NM_025114.4(CEP290):c.5956T>C (p.Leu1986=)
NM_025114.4(CEP290):c.5962G>A (p.Glu1988Lys)
NM_025114.4(CEP290):c.5962G>T (p.Glu1988Ter) rs2035358840
NM_025114.4(CEP290):c.5967A>T (p.Leu1989Phe)
NM_025114.4(CEP290):c.5969A>G (p.Lys1990Arg)
NM_025114.4(CEP290):c.5970A>G (p.Lys1990=)
NM_025114.4(CEP290):c.5972A>C (p.Lys1991Thr) rs1178644600
NM_025114.4(CEP290):c.5972del (p.Lys1991fs) rs1468269366
NM_025114.4(CEP290):c.5973G>C (p.Lys1991Asn) rs1064795773
NM_025114.4(CEP290):c.597_648del (p.Glu200fs) rs2039985700
NM_025114.4(CEP290):c.5986T>G (p.Leu1996Val)
NM_025114.4(CEP290):c.5995G>C (p.Asp1999His) rs2136955385
NM_025114.4(CEP290):c.5997T>C (p.Asp1999=)
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.6003G>A (p.Leu2001=) rs2035355059
NM_025114.4(CEP290):c.6011+13G>T
NM_025114.4(CEP290):c.6011+14_6011+15del rs1565811649
NM_025114.4(CEP290):c.6011+15G>A
NM_025114.4(CEP290):c.6011+2T>G
NM_025114.4(CEP290):c.6011+7dup
NM_025114.4(CEP290):c.6011+8A>G
NM_025114.4(CEP290):c.6012-10T>A
NM_025114.4(CEP290):c.6012-11G>A
NM_025114.4(CEP290):c.6012-13_6012-12insA
NM_025114.4(CEP290):c.6012-14A>G
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
NM_025114.4(CEP290):c.6012-5C>A
NM_025114.4(CEP290):c.6012-9T>C rs2136914044
NM_025114.4(CEP290):c.6012G>A (p.Arg2004=) rs2136913860
NM_025114.4(CEP290):c.6022G>A (p.Ala2008Thr)
NM_025114.4(CEP290):c.6030T>A (p.Pro2010=)
NM_025114.4(CEP290):c.6032G>A (p.Arg2011Gln)
NM_025114.4(CEP290):c.6037T>C (p.Ser2013Pro) rs2136913105
NM_025114.4(CEP290):c.6037T>G (p.Ser2013Ala) rs2136913105
NM_025114.4(CEP290):c.603C>T (p.Asp201=)
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=)
NM_025114.4(CEP290):c.6060A>G (p.Leu2020=) rs2035122755
NM_025114.4(CEP290):c.6062A>C (p.Gln2021Pro)
NM_025114.4(CEP290):c.6065A>G (p.Asn2022Ser) rs1283291449
NM_025114.4(CEP290):c.6067A>C (p.Arg2023=) rs764861728
NM_025114.4(CEP290):c.6067A>G (p.Arg2023Gly)
NM_025114.4(CEP290):c.6072C>A (p.Tyr2024Ter) rs779262951
NM_025114.4(CEP290):c.6076C>T (p.Gln2026Ter)
NM_025114.4(CEP290):c.6079del (p.Glu2027fs) rs2136911634
NM_025114.4(CEP290):c.6083A>G (p.Lys2028Arg)
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=)
NM_025114.4(CEP290):c.6092C>A (p.Ala2031Asp) rs1057522651
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)
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.6134C>T (p.Ser2045Leu)
NM_025114.4(CEP290):c.6135+10T>C rs371097588
NM_025114.4(CEP290):c.6135+13C>G
NM_025114.4(CEP290):c.6135+15T>C
NM_025114.4(CEP290):c.6135+19T>C
NM_025114.4(CEP290):c.6135+1G>A rs2035114607
NM_025114.4(CEP290):c.6135+2T>A rs1555200648
NM_025114.4(CEP290):c.6135+9A>C
NM_025114.4(CEP290):c.6135+9A>G
NM_025114.4(CEP290):c.6135A>G (p.Ser2045=) rs2035114777
NM_025114.4(CEP290):c.6136-13C>A
NM_025114.4(CEP290):c.6136-182dup rs11426323
NM_025114.4(CEP290):c.6136-6C>G
NM_025114.4(CEP290):c.6136-8C>T
NM_025114.4(CEP290):c.6136A>G (p.Ile2046Val)
NM_025114.4(CEP290):c.6138T>A (p.Ile2046=)
NM_025114.4(CEP290):c.6138_6139delinsC (p.Ser2047fs)
NM_025114.4(CEP290):c.613C>G (p.Arg205Gly)
NM_025114.4(CEP290):c.6141A>G (p.Ser2047=) rs779553989
NM_025114.4(CEP290):c.614G>A (p.Arg205Gln)
NM_025114.4(CEP290):c.614G>T (p.Arg205Leu)
NM_025114.4(CEP290):c.6152C>G (p.Ser2051Ter)
NM_025114.4(CEP290):c.6154_6161del (p.Asp2052fs) rs867904492
NM_025114.4(CEP290):c.6156_6159del (p.Asp2053fs)
NM_025114.4(CEP290):c.615A>T (p.Arg205=)
NM_025114.4(CEP290):c.6162T>C (p.His2054=) rs867670449
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)
NM_025114.4(CEP290):c.6175C>T (p.Gln2059Ter)
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.6200A>G (p.Lys2067Arg)
NM_025114.4(CEP290):c.6204G>A (p.Leu2068=)
NM_025114.4(CEP290):c.6207A>T (p.Ser2069=) rs1327169453
NM_025114.4(CEP290):c.6209C>A (p.Ser2070Tyr)
NM_025114.4(CEP290):c.620A>G (p.Gln207Arg) rs2138095264
NM_025114.4(CEP290):c.6216T>C (p.Asn2072=)
NM_025114.4(CEP290):c.6218T>C (p.Ile2073Thr) rs2034695558
NM_025114.4(CEP290):c.621G>A (p.Gln207=)
NM_025114.4(CEP290):c.6223C>G (p.Leu2075Val)
NM_025114.4(CEP290):c.6225G>C (p.Leu2075=)
NM_025114.4(CEP290):c.6226A>T (p.Lys2076Ter)
NM_025114.4(CEP290):c.6228A>T (p.Lys2076Asn) rs2136813251
NM_025114.4(CEP290):c.6230T>C (p.Phe2077Ser) rs2136813103
NM_025114.4(CEP290):c.6234G>A (p.Gln2078=)
NM_025114.4(CEP290):c.623T>G (p.Leu208Trp) rs2039987503
NM_025114.4(CEP290):c.6245C>T (p.Ala2082Val) rs767592034
NM_025114.4(CEP290):c.6249_6252del (p.Asn2083fs)
NM_025114.4(CEP290):c.6249dup (p.Lys2084Ter)
NM_025114.4(CEP290):c.6254A>T (p.Asp2085Val) rs774510171
NM_025114.4(CEP290):c.6258G>A (p.Leu2086=)
NM_025114.4(CEP290):c.6261A>C (p.Pro2087=)
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)
NM_025114.4(CEP290):c.626del (p.Ser209fs)
NM_025114.4(CEP290):c.6270+12G>A
NM_025114.4(CEP290):c.6270+17T>G rs1473886719
NM_025114.4(CEP290):c.6270+18del rs371141771
NM_025114.4(CEP290):c.6270+19del
NM_025114.4(CEP290):c.6270+1G>T
NM_025114.4(CEP290):c.6270+2T>C
NM_025114.4(CEP290):c.6270+9A>G rs2136811401
NM_025114.4(CEP290):c.628A>T (p.Lys210Ter) rs763473957
NM_025114.4(CEP290):c.6358-11T>C
NM_025114.4(CEP290):c.6358-13T>C rs1355948965
NM_025114.4(CEP290):c.6358-14A>G
NM_025114.4(CEP290):c.6358-16del
NM_025114.4(CEP290):c.6358-17_6358-10del
NM_025114.4(CEP290):c.6358-18_6358-15del
NM_025114.4(CEP290):c.6358-20T>C
NM_025114.4(CEP290):c.6358-6T>C
NM_025114.4(CEP290):c.6358-7T>C rs1323070560
NM_025114.4(CEP290):c.635_636insG (p.Asn212fs)
NM_025114.4(CEP290):c.635_636insT (p.Tyr213fs)
NM_025114.4(CEP290):c.635del (p.Asn212fs)
NM_025114.4(CEP290):c.635dup (p.Asn212fs) rs769091629
NM_025114.4(CEP290):c.6360dup (p.Gly2121fs)
NM_025114.4(CEP290):c.6363T>C (p.Gly2121=) rs2136752914
NM_025114.4(CEP290):c.6364A>T (p.Arg2122Ter) rs1555197766
NM_025114.4(CEP290):c.6369T>C (p.Ser2123=) rs750473077
NM_025114.4(CEP290):c.6369T>G (p.Ser2123Arg)
NM_025114.4(CEP290):c.6372A>G (p.Gly2124=)
NM_025114.4(CEP290):c.6377_6378del (p.Thr2126fs)
NM_025114.4(CEP290):c.6384A>G (p.Pro2128=)
NM_025114.4(CEP290):c.6386A>G (p.Glu2129Gly)
NM_025114.4(CEP290):c.6387A>G (p.Glu2129=)
NM_025114.4(CEP290):c.6388C>A (p.Leu2130Met) rs1178627897
NM_025114.4(CEP290):c.6388C>T (p.Leu2130=)
NM_025114.4(CEP290):c.6398C>A (p.Thr2133Asn) rs775860198
NM_025114.4(CEP290):c.63A>G (p.Gln21=)
NM_025114.4(CEP290):c.6417A>C (p.Lys2139Asn)
NM_025114.4(CEP290):c.6417dup (p.Val2140fs)
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)
NM_025114.4(CEP290):c.642G>A (p.Glu214=) rs2138094419
NM_025114.4(CEP290):c.6432C>A (p.Val2144=)
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=)
NM_025114.4(CEP290):c.6439G>T (p.Glu2147Ter) rs1234975160
NM_025114.4(CEP290):c.6444T>A (p.Asn2148Lys) rs368101871
NM_025114.4(CEP290):c.6445G>A (p.Glu2149Lys)
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.6461C>A (p.Ala2154Glu)
NM_025114.4(CEP290):c.6468A>G (p.Gly2156=)
NM_025114.4(CEP290):c.6469A>G (p.Ile2157Val) rs2136749270
NM_025114.4(CEP290):c.6472T>C (p.Leu2158=)
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.6490del (p.Ala2164fs)
NM_025114.4(CEP290):c.6497T>C (p.Ile2166Thr)
NM_025114.4(CEP290):c.64GAA[1] (p.Glu23del) rs780211907
NM_025114.4(CEP290):c.6505G>A (p.Glu2169Lys) rs2136748183
NM_025114.4(CEP290):c.6510T>A (p.Asn2170Lys)
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=)
NM_025114.4(CEP290):c.6522+11_6522+12del
NM_025114.4(CEP290):c.6522+11_6522+12dup
NM_025114.4(CEP290):c.6522+12del
NM_025114.4(CEP290):c.6522+13A>T
NM_025114.4(CEP290):c.6522+13_6522+14insC
NM_025114.4(CEP290):c.6522+14_6522+15insC
NM_025114.4(CEP290):c.6522+16G>A
NM_025114.4(CEP290):c.6522+18G>C
NM_025114.4(CEP290):c.6522+19A>T
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_025114.4(CEP290):c.6522+6_6522+7insC
NM_025114.4(CEP290):c.6522+75G>A rs2136746324
NM_025114.4(CEP290):c.6522+8_6522+9insA
NM_025114.4(CEP290):c.6523-12T>C rs761172645
NM_025114.4(CEP290):c.6523-12T>G
NM_025114.4(CEP290):c.6523-12dup rs1216267478
NM_025114.4(CEP290):c.6523-13G>T
NM_025114.4(CEP290):c.6523-13_6523-10del rs779782832
NM_025114.4(CEP290):c.6523-14T>C
NM_025114.4(CEP290):c.6523-14T>G
NM_025114.4(CEP290):c.6523-17_6523-15del rs751359519
NM_025114.4(CEP290):c.6523-18T>C
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
NM_025114.4(CEP290):c.6523-8T>C
NM_025114.4(CEP290):c.6523-9T>G
NM_025114.4(CEP290):c.6537del (p.Lys2179fs) rs2136728464
NM_025114.4(CEP290):c.6538C>G (p.Leu2180Val)
NM_025114.4(CEP290):c.6538C>T (p.Leu2180Phe) rs1381853150
NM_025114.4(CEP290):c.653A>G (p.Tyr218Cys)
NM_025114.4(CEP290):c.6541A>G (p.Lys2181Glu)
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)
NM_025114.4(CEP290):c.6561G>A (p.Gln2187=) rs2136727209
NM_025114.4(CEP290):c.6566G>T (p.Ser2189Ile) rs2034338160
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.6573C>G (p.His2191Gln) rs1316821873
NM_025114.4(CEP290):c.6579A>G (p.Glu2193=)
NM_025114.4(CEP290):c.6582C>T (p.Ser2194=) rs1592739990
NM_025114.4(CEP290):c.6583A>C (p.Lys2195Gln)
NM_025114.4(CEP290):c.6585G>A (p.Lys2195=)
NM_025114.4(CEP290):c.6588C>T (p.Thr2196=)
NM_025114.4(CEP290):c.6592G>T (p.Gly2198Cys)
NM_025114.4(CEP290):c.6595A>T (p.Thr2199Ser)
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=)
NM_025114.4(CEP290):c.6606T>C (p.Ile2202=)
NM_025114.4(CEP290):c.661G>T (p.Glu221Ter) rs2138093974
NM_025114.4(CEP290):c.6624G>A (p.Arg2208=)
NM_025114.4(CEP290):c.6624del (p.Arg2208fs) rs2136725569
NM_025114.4(CEP290):c.6634G>A (p.Glu2212Lys) rs2034330893
NM_025114.4(CEP290):c.6634G>T (p.Glu2212Ter) rs2034330893
NM_025114.4(CEP290):c.6640A>T (p.Lys2214Ter)
NM_025114.4(CEP290):c.6644A>T (p.Lys2215Ile)
NM_025114.4(CEP290):c.6645+4T>A
NM_025114.4(CEP290):c.6645+7C>T rs762527255
NM_025114.4(CEP290):c.6645del (p.Glu2216fs) rs2136724878
NM_025114.4(CEP290):c.6646-10T>C rs2136707145
NM_025114.4(CEP290):c.6646-16del
NM_025114.4(CEP290):c.6646-17T>C
NM_025114.4(CEP290):c.6646-18A>G rs978362109
NM_025114.4(CEP290):c.6646-4A>G
NM_025114.4(CEP290):c.6646-9T>C
NM_025114.4(CEP290):c.6649A>G (p.Thr2217Ala)
NM_025114.4(CEP290):c.664del (p.Ile222fs) rs2138093868
NM_025114.4(CEP290):c.6653A>G (p.Asp2218Gly) rs2136706903
NM_025114.4(CEP290):c.6661G>T (p.Glu2221Ter)
NM_025114.4(CEP290):c.6662A>C (p.Glu2221Ala)
NM_025114.4(CEP290):c.6670C>T (p.Arg2224Trp)
NM_025114.4(CEP290):c.6672G>A (p.Arg2224=)
NM_025114.4(CEP290):c.667C>G (p.Gln223Glu) rs2138093804
NM_025114.4(CEP290):c.6684T>G (p.Asn2228Lys)
NM_025114.4(CEP290):c.6686A>G (p.Asn2229Ser) rs2034240934
NM_025114.4(CEP290):c.669+15A>G
NM_025114.4(CEP290):c.669+16G>A rs1408808578
NM_025114.4(CEP290):c.669+20A>T
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.6694A>G (p.Ile2232Val) rs2034240720
NM_025114.4(CEP290):c.670-13T>C
NM_025114.4(CEP290):c.670-13_670-12del rs941686794
NM_025114.4(CEP290):c.670-3dup
NM_025114.4(CEP290):c.670-7T>G
NM_025114.4(CEP290):c.670-9C>T
NM_025114.4(CEP290):c.6714A>C (p.Thr2238=) rs1293521533
NM_025114.4(CEP290):c.6721C>T (p.Leu2241=)
NM_025114.4(CEP290):c.6734G>A (p.Gly2245Asp) rs766640788
NM_025114.4(CEP290):c.673_674del (p.Leu225fs) rs886039805
NM_025114.4(CEP290):c.6742T>C (p.Leu2248=)
NM_025114.4(CEP290):c.6744G>A (p.Leu2248=) rs2136705270
NM_025114.4(CEP290):c.6750T>G (p.Phe2250Leu)
NM_025114.4(CEP290):c.6753A>G (p.Ala2251=) rs2136704965
NM_025114.4(CEP290):c.6756A>G (p.Glu2252=) rs750070359
NM_025114.4(CEP290):c.6760dup (p.Arg2254fs) rs2034235109
NM_025114.4(CEP290):c.6764G>A (p.Gly2255Asp) rs377561473
NM_025114.4(CEP290):c.6769C>T (p.Gln2257Ter) rs2136704614
NM_025114.4(CEP290):c.6774T>G (p.Leu2258=) rs2034234195
NM_025114.4(CEP290):c.6776A>C (p.Glu2259Ala)
NM_025114.4(CEP290):c.6777A>G (p.Glu2259=)
NM_025114.4(CEP290):c.6793_6794del (p.Ser2265fs)
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.6805A>G (p.Ile2269Val)
NM_025114.4(CEP290):c.6818+10G>C
NM_025114.4(CEP290):c.6818+20C>T
NM_025114.4(CEP290):c.6818+2T>C
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.6819-15del
NM_025114.4(CEP290):c.6819-15dup
NM_025114.4(CEP290):c.6819-34G>T rs750838874
NM_025114.4(CEP290):c.6819-5T>A
NM_025114.4(CEP290):c.6819-6T>C rs2136656943
NM_025114.4(CEP290):c.6819-7C>T
NM_025114.4(CEP290):c.6823T>G (p.Tyr2275Asp)
NM_025114.4(CEP290):c.6824A>T (p.Tyr2275Phe)
NM_025114.4(CEP290):c.6831C>A (p.Thr2277=)
NM_025114.4(CEP290):c.6831C>T (p.Thr2277=)
NM_025114.4(CEP290):c.6831del (p.Lys2278fs)
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)
NM_025114.4(CEP290):c.6841G>A (p.Glu2281Lys)
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.6846G>A (p.Leu2282=)
NM_025114.4(CEP290):c.6847G>A (p.Glu2283Lys) rs2136656424
NM_025114.4(CEP290):c.6857T>C (p.Ile2286Thr)
NM_025114.4(CEP290):c.6860C>G (p.Ala2287Gly)
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.6871C>T (p.Gln2291Ter) rs1592726020
NM_025114.4(CEP290):c.6875G>C (p.Ser2292Thr)
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)
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)
NM_025114.4(CEP290):c.6916A>T (p.Arg2306Ter)
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.6919G>A (p.Glu2307Lys)
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.6922C>A (p.Gln2308Lys)
NM_025114.4(CEP290):c.6924A>G (p.Gln2308=) rs2033935023
NM_025114.4(CEP290):c.6926A>G (p.Lys2309Arg)
NM_025114.4(CEP290):c.6927del (p.Val2310fs)
NM_025114.4(CEP290):c.6928dup (p.Val2310fs)
NM_025114.4(CEP290):c.6929T>A (p.Val2310Asp)
NM_025114.4(CEP290):c.6933C>G (p.Asn2311Lys)
NM_025114.4(CEP290):c.6933del (p.Asn2311fs)
NM_025114.4(CEP290):c.6939C>A (p.Tyr2313Ter) rs863225187
NM_025114.4(CEP290):c.6942T>C (p.Asn2314=) rs2136654318
NM_025114.4(CEP290):c.694dup (p.Ile232fs)
NM_025114.4(CEP290):c.6951T>A (p.Leu2317=)
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+10G>C rs75011402
NM_025114.4(CEP290):c.6960+14T>G
NM_025114.4(CEP290):c.6960+5_6960+8del rs2033930168
NM_025114.4(CEP290):c.6960+9C>A
NM_025114.4(CEP290):c.6960+9_6960+13del
NM_025114.4(CEP290):c.6961-10G>A
NM_025114.4(CEP290):c.6961-12T>C
NM_025114.4(CEP290):c.6961-18T>C
NM_025114.4(CEP290):c.6961-1G>T rs2136637204
NM_025114.4(CEP290):c.6961-3_6965del
NM_025114.4(CEP290):c.6961-5dup rs2033832669
NM_025114.4(CEP290):c.6961-6T>C rs768947002
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=)
NM_025114.4(CEP290):c.6976C>A (p.His2326Asn) rs2136637071
NM_025114.4(CEP290):c.6977A>G (p.His2326Arg)
NM_025114.4(CEP290):c.6978T>C (p.His2326=) rs775641877
NM_025114.4(CEP290):c.6981T>C (p.Val2327=)
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)
NM_025114.4(CEP290):c.6992del (p.Ala2331fs)
NM_025114.4(CEP290):c.6993T>A (p.Ala2331=) rs2136636592
NM_025114.4(CEP290):c.6994G>A (p.Glu2332Lys)
NM_025114.4(CEP290):c.6994G>T (p.Glu2332Ter) rs1414041522
NM_025114.4(CEP290):c.6999A>C (p.Thr2333=)
NM_025114.4(CEP290):c.6A>C (p.Pro2=)
NM_025114.4(CEP290):c.7003dup (p.Gln2335fs)
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)
NM_025114.4(CEP290):c.7016G>T (p.Arg2339Leu)
NM_025114.4(CEP290):c.7024C>T (p.Gln2342Ter)
NM_025114.4(CEP290):c.7027del (p.Val2343fs) rs2033827549
NM_025114.4(CEP290):c.7031_7034+7delinsAT
NM_025114.4(CEP290):c.7034+13_7034+15del
NM_025114.4(CEP290):c.7034+19T>A
NM_025114.4(CEP290):c.7034+19T>C
NM_025114.4(CEP290):c.7034+272C>A rs7980746
NM_025114.4(CEP290):c.7034+41dup rs201140440
NM_025114.4(CEP290):c.7034+8A>C rs1209334887
NM_025114.4(CEP290):c.7034+8A>G
NM_025114.4(CEP290):c.7035-11T>C
NM_025114.4(CEP290):c.7035-12A>G
NM_025114.4(CEP290):c.7035-14T>C
NM_025114.4(CEP290):c.7035-15A>G
NM_025114.4(CEP290):c.7035-18A>G
NM_025114.4(CEP290):c.7035-19C>T
NM_025114.4(CEP290):c.7035-7G>T
NM_025114.4(CEP290):c.7035-9G>A rs2136625815
NM_025114.4(CEP290):c.7036T>C (p.Leu2346=)
NM_025114.4(CEP290):c.7048C>A (p.Gln2350Lys) rs375548374
NM_025114.4(CEP290):c.7055A>T (p.Asp2352Val) rs2033762979
NM_025114.4(CEP290):c.7056T>G (p.Asp2352Glu)
NM_025114.4(CEP290):c.7062_7063del (p.Lys2355fs) rs886042734
NM_025114.4(CEP290):c.7066G>A (p.Ala2356Thr)
NM_025114.4(CEP290):c.7067C>G (p.Ala2356Gly) rs2136624871
NM_025114.4(CEP290):c.7071A>C (p.Glu2357Asp)
NM_025114.4(CEP290):c.7077C>A (p.Ile2359=)
NM_025114.4(CEP290):c.7081C>T (p.Gln2361Ter)
NM_025114.4(CEP290):c.7084A>T (p.Ile2362Leu) rs1364454411
NM_025114.4(CEP290):c.7107T>A (p.Ser2369Arg)
NM_025114.4(CEP290):c.7111G>T (p.Ala2371Ser)
NM_025114.4(CEP290):c.7113T>C (p.Ala2371=)
NM_025114.4(CEP290):c.7119C>T (p.Ser2373=) rs2136623871
NM_025114.4(CEP290):c.711A>G (p.Gln237=)
NM_025114.4(CEP290):c.7124T>C (p.Ile2375Thr) rs540340404
NM_025114.4(CEP290):c.7127del (p.Pro2376fs)
NM_025114.4(CEP290):c.7129+10T>C rs2136623387
NM_025114.4(CEP290):c.7129+13A>T
NM_025114.4(CEP290):c.7129+18dup
NM_025114.4(CEP290):c.7129+20A>G
NM_025114.4(CEP290):c.7129+20_7129+21del
NM_025114.4(CEP290):c.7129+73del rs372674637
NM_025114.4(CEP290):c.7129+8A>G rs2136623486
NM_025114.4(CEP290):c.7129+9T>G
NM_025114.4(CEP290):c.712G>T (p.Glu238Ter) rs2138086844
NM_025114.4(CEP290):c.7130-18G>A
NM_025114.4(CEP290):c.7130-18G>C rs1258894576
NM_025114.4(CEP290):c.7130-1G>A
NM_025114.4(CEP290):c.7130-6C>G
NM_025114.4(CEP290):c.7130-6C>T rs1267739576
NM_025114.4(CEP290):c.7130-8_7130-7del rs1555193620
NM_025114.4(CEP290):c.7133C>G (p.Ala2378Gly) rs1565777729
NM_025114.4(CEP290):c.7134T>C (p.Ala2378=)
NM_025114.4(CEP290):c.713A>C (p.Glu238Ala) rs2138086785
NM_025114.4(CEP290):c.7143A>G (p.Leu2381=)
NM_025114.4(CEP290):c.7150A>G (p.Lys2384Glu)
NM_025114.4(CEP290):c.7153A>G (p.Ile2385Val)
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer) rs781310385
NM_025114.4(CEP290):c.7156A>G (p.Lys2386Glu)
NM_025114.4(CEP290):c.7157_7158del (p.Lys2386fs)
NM_025114.4(CEP290):c.7161T>C (p.Asp2387=) rs1419407850
NM_025114.4(CEP290):c.7162C>T (p.Leu2388=)
NM_025114.4(CEP290):c.7162_7163del (p.Leu2388fs)
NM_025114.4(CEP290):c.7171_7172del (p.Gln2391fs) rs768864797
NM_025114.4(CEP290):c.7173G>A (p.Gln2391=)
NM_025114.4(CEP290):c.7174C>T (p.Leu2392Phe)
NM_025114.4(CEP290):c.7175_7176del (p.Leu2392fs)
NM_025114.4(CEP290):c.7176C>A (p.Leu2392=)
NM_025114.4(CEP290):c.7179A>G (p.Lys2393=) rs2136564522
NM_025114.4(CEP290):c.7186G>C (p.Asp2396His)
NM_025114.4(CEP290):c.7188T>C (p.Asp2396=) rs1373327829
NM_025114.4(CEP290):c.718A>T (p.Arg240Ter)
NM_025114.4(CEP290):c.7191A>C (p.Leu2397=)
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.7198_7209del (p.Gln2400_Lys2403del)
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+1G>A
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
NM_025114.4(CEP290):c.7209+9_7209+13del
NM_025114.4(CEP290):c.725dup (p.Asn242fs)
NM_025114.4(CEP290):c.727T>A (p.Leu243Ile)
NM_025114.4(CEP290):c.729A>G (p.Leu243=) rs1349591192
NM_025114.4(CEP290):c.730G>T (p.Glu244Ter) rs2138086329
NM_025114.4(CEP290):c.732A>G (p.Glu244=) rs2138086280
NM_025114.4(CEP290):c.734_735del (p.Glu245fs) rs1592671672
NM_025114.4(CEP290):c.737_738del (p.Ser246fs) rs2039957886
NM_025114.4(CEP290):c.739G>C (p.Val247Leu)
NM_025114.4(CEP290):c.739G>T (p.Val247Leu)
NM_025114.4(CEP290):c.739_740del (p.Val247fs) rs1592671618
NM_025114.4(CEP290):c.741A>G (p.Val247=) rs2138085914
NM_025114.4(CEP290):c.742C>T (p.Gln248Ter) rs2138085855
NM_025114.4(CEP290):c.74C>T (p.Ala25Val)
NM_025114.4(CEP290):c.753G>T (p.Glu251Asp) rs2039957080
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=)
NM_025114.4(CEP290):c.76G>A (p.Asp26Asn)
NM_025114.4(CEP290):c.78T>G (p.Asp26Glu)
NM_025114.4(CEP290):c.790G>T (p.Val264Leu) rs1242440672
NM_025114.4(CEP290):c.792G>A (p.Val264=)
NM_025114.4(CEP290):c.794A>G (p.His265Arg) rs902444632
NM_025114.4(CEP290):c.802_803del (p.Thr267_Asp268insTer)
NM_025114.4(CEP290):c.810A>G (p.Val270=)
NM_025114.4(CEP290):c.816T>C (p.Asp272=)
NM_025114.4(CEP290):c.816del (p.Gln273fs)
NM_025114.4(CEP290):c.817C>T (p.Gln273Ter)
NM_025114.4(CEP290):c.823A>C (p.Lys275Gln)
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.833del (p.Asn278fs)
NM_025114.4(CEP290):c.835G>T (p.Asp279Tyr) rs796540607
NM_025114.4(CEP290):c.836A>T (p.Asp279Val)
NM_025114.4(CEP290):c.837T>C (p.Asp279=)
NM_025114.4(CEP290):c.839A>G (p.His280Arg)
NM_025114.4(CEP290):c.843_845del (p.Tyr281_Gln282delinsTer) rs2138083048
NM_025114.4(CEP290):c.846A>G (p.Gln282=)
NM_025114.4(CEP290):c.84del (p.Leu28fs)
NM_025114.4(CEP290):c.850C>G (p.Gln284Glu)
NM_025114.4(CEP290):c.850C>T (p.Gln284Ter)
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
NM_025114.4(CEP290):c.852+16A>G rs2138082584
NM_025114.4(CEP290):c.852+17G>A
NM_025114.4(CEP290):c.852+3A>G rs1555225551
NM_025114.4(CEP290):c.852+73A>G rs61265751
NM_025114.4(CEP290):c.852+7A>G
NM_025114.4(CEP290):c.852A>T (p.Gln284His) rs1592671091
NM_025114.4(CEP290):c.853-10del rs201265955
NM_025114.4(CEP290):c.853-11T>G
NM_025114.4(CEP290):c.853-11_853-10insC
NM_025114.4(CEP290):c.853-127_853-125dup rs71082426
NM_025114.4(CEP290):c.853-12_853-11insA
NM_025114.4(CEP290):c.853-14del
NM_025114.4(CEP290):c.853-16T>C
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>G
NM_025114.4(CEP290):c.853-2A>T
NM_025114.4(CEP290):c.853-7C>A rs2138071676
NM_025114.4(CEP290):c.853G>A (p.Val285Met)
NM_025114.4(CEP290):c.854T>G (p.Val285Gly)
NM_025114.4(CEP290):c.858G>A (p.Gln286=)
NM_025114.4(CEP290):c.864T>A (p.Leu288=)
NM_025114.4(CEP290):c.867A>C (p.Thr289=) rs2138071158
NM_025114.4(CEP290):c.871C>A (p.Leu291Ile)
NM_025114.4(CEP290):c.881C>A (p.Ser294Ter)
NM_025114.4(CEP290):c.881C>G (p.Ser294Ter) rs1592668925
NM_025114.4(CEP290):c.888T>C (p.Asn296=)
NM_025114.4(CEP290):c.890A>T (p.Glu297Val)
NM_025114.4(CEP290):c.894A>C (p.Glu298Asp)
NM_025114.4(CEP290):c.894A>T (p.Glu298Asp) rs2039900054
NM_025114.4(CEP290):c.895G>A (p.Asp299Asn)
NM_025114.4(CEP290):c.897T>C (p.Asp299=)
NM_025114.4(CEP290):c.898G>A (p.Asp300Asn)
NM_025114.4(CEP290):c.916G>A (p.Val306Ile) rs558949569
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.92C>T (p.Ser31Phe) rs1378106199
NM_025114.4(CEP290):c.93C>G (p.Ser31=) rs375955381
NM_025114.4(CEP290):c.942+11del
NM_025114.4(CEP290):c.942+13A>G
NM_025114.4(CEP290):c.942+14A>G
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.942+6T>G rs886049884
NM_025114.4(CEP290):c.943-14G>T
NM_025114.4(CEP290):c.943-16T>C
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
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)
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu) rs774072453
NM_025114.4(CEP290):c.964G>A (p.Asp322Asn) rs536127246
NM_025114.4(CEP290):c.966T>C (p.Asp322=) rs762450740
NM_025114.4(CEP290):c.970A>G (p.Ile324Val) rs1555224610
NM_025114.4(CEP290):c.976_979del (p.Glu326fs)
NM_025114.4(CEP290):c.983A>C (p.Gln328Pro)
NM_025114.4(CEP290):c.984G>C (p.Gln328His) rs776256270
NM_025114.4(CEP290):c.985C>T (p.Gln329Ter) rs2138023519
NM_025114.4(CEP290):c.993A>G (p.Leu331=)
NM_025114.4(CEP290):c.994C>T (p.His332Tyr)
NM_025114.4(CEP290):c.99C>T (p.Ser33=) rs866917306
NM_025114.4(CEP290):c.[1429C>T];[322C>T]
NM_025114.4(CEP290):c.[1666del];[6012-12T>A]
NM_025114.4(CEP290):c.[3904C>T];[4655AAG[2]]
NM_025114.4(CEP290):c.[4655AAG[2]];[6012-12T>A]
NM_025114.4(CEP290):c.[943-4C>T;943-8A>T]

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