ClinVar Miner

List of variants studied for Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis by Invitae

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Minimum conflict level:
ClinVar version:
Total variants: 3093
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425 0.87640
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
NM_025114.4(CEP290):c.6357+20A>T rs7971699 0.05562
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793 0.05381
NM_025114.4(CEP290):c.5709+18C>A rs7973969 0.05367
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.2717T>G (p.Leu906Trp) rs7970228 0.04262
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459 0.02390
NM_025114.4(CEP290):c.251-10A>T rs190383141 0.02052
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698 0.02050
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=) rs150138016 0.00815
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=) rs79644671 0.00740
NM_025114.4(CEP290):c.1624-5T>C rs142742071 0.00704
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808 0.00678
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu) rs147371999 0.00585
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00488
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729 0.00463
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_025114.4(CEP290):c.1522+6C>T rs148446546 0.00371
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_025114.4(CEP290):c.6960+10G>A rs75011402 0.00305
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459 0.00241
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.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.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.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_025114.4(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_025114.4(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.7276G>A (p.Asp2426Asn) rs200178519 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.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.6320A>G (p.Lys2107Arg) rs755933899 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.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.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.7340A>C (p.Lys2447Thr) rs201382524 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.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.6271-15C>T rs764251517 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.7365A>G (p.Glu2455=) rs765709669 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.1669C>T (p.Arg557Cys) rs561018129 0.00003
NM_025114.4(CEP290):c.2029C>T (p.Pro677Ser) rs375523390 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.3310-7T>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.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.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.7375C>T (p.Pro2459Ser) rs754398792 0.00003
NM_025114.4(CEP290):c.7397T>A (p.Phe2466Tyr) rs1159836808 0.00003
NM_025114.4(CEP290):c.7416T>A (p.Ser2472Arg) rs794727762 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.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.6023C>T (p.Ala2008Val) rs376307540 0.00002
NM_025114.4(CEP290):c.6069A>G (p.Arg2023=) rs772038500 0.00002
NM_025114.4(CEP290):c.6120A>G (p.Thr2040=) rs766265410 0.00002
NM_025114.4(CEP290):c.6135+7G>A rs772383636 0.00002
NM_025114.4(CEP290):c.6277del (p.Val2093fs) rs771454167 0.00002
NM_025114.4(CEP290):c.6335G>A (p.Arg2112Gln) rs773459272 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.7282_7283dup (p.Tyr2429fs) rs767231715 0.00002
NM_025114.4(CEP290):c.7287T>A (p.Tyr2429Ter) rs775189201 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_001009894.3(RLIG1):c.*1008T>C rs762987255 0.00001
NM_001009894.3(RLIG1):c.*997T>A rs2033257006 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.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.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.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+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.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+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.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.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.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.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.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.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.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.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.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.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.6150G>A (p.Glu2050=) rs1175295227 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.6271-8T>C rs1039146791 0.00001
NM_025114.4(CEP290):c.6346C>T (p.His2116Tyr) rs2034573032 0.00001
NM_025114.4(CEP290):c.634A>T (p.Asn212Tyr) rs527704077 0.00001
NM_025114.4(CEP290):c.6353G>C (p.Arg2118Thr) rs1208196086 0.00001
NM_025114.4(CEP290):c.6357+3A>G rs777062671 0.00001
NM_025114.4(CEP290):c.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.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.7213G>A (p.Glu2405Lys) rs1393659962 0.00001
NM_025114.4(CEP290):c.722A>G (p.Lys241Arg) rs199790246 0.00001
NM_025114.4(CEP290):c.7240G>A (p.Glu2414Lys) rs1233939358 0.00001
NM_025114.4(CEP290):c.726T>A (p.Asn242Lys) rs949161264 0.00001
NM_025114.4(CEP290):c.726T>C (p.Asn242=) rs949161264 0.00001
NM_025114.4(CEP290):c.7293C>T (p.Tyr2431=) rs1397480003 0.00001
NM_025114.4(CEP290):c.7311G>T (p.Lys2437Asn) rs534440681 0.00001
NM_025114.4(CEP290):c.7314T>C (p.Asn2438=) rs1555193066 0.00001
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter) rs1374014119 0.00001
NM_025114.4(CEP290):c.7333G>A (p.Val2445Ile) rs756042946 0.00001
NM_025114.4(CEP290):c.7341A>G (p.Lys2447=) rs1415533078 0.00001
NM_025114.4(CEP290):c.7341_7344dup (p.Ser2449fs) rs778907433 0.00001
NM_025114.4(CEP290):c.7372A>G (p.Ser2458Gly) rs762238709 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
NC_000012.11:g.(?_88442955)_(88449500_?)dup
NC_000012.11:g.(?_88442961)_(88449494_?)dup
NC_000012.11:g.(?_88442961)_(88452817_?)del
NC_000012.11:g.(?_88447419)_(88448200_?)del
NC_000012.11:g.(?_88447419)_(88448200_?)dup
NC_000012.11:g.(?_88452605)_(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
NC_000012.12:g.(?_87983103)_(88507137_?)del
NM_001009894.3(RLIG1):c.*1006_*1008dup
NM_001009894.3(RLIG1):c.*1008_*1013del rs753383814
NM_001009894.3(RLIG1):c.*995A>C
NM_025114.3(CEP290):c.4438-318_7243del
NM_025114.3(CEP290):c.6819-?_*171+?dup
NM_025114.4(CEP290):c.-8_2del (p.Met1fs) rs2040644607
NM_025114.4(CEP290):c.1000C>T (p.Leu334=) rs2138022943
NM_025114.4(CEP290):c.1002A>T (p.Leu334=) rs757621266
NM_025114.4(CEP290):c.1004G>A (p.Arg335Lys)
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+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.103-20T>C
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.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.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.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.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.1172A>G (p.Glu391Gly)
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.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.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.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.1338del (p.Arg447fs) rs2039364798
NM_025114.4(CEP290):c.133del (p.Gln45fs)
NM_025114.4(CEP290):c.1347dup (p.Asp450fs) rs774490795
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.1360-4T>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.1393del (p.Glu464_Ile465insTer) rs2039321844
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.1451del (p.Lys484fs) rs386834149
NM_025114.4(CEP290):c.1466T>C (p.Leu489Pro)
NM_025114.4(CEP290):c.1471T>A (p.Leu491Met)
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.149A>G (p.His50Arg) rs2138298302
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.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+20A>T
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.1550dup (p.Leu517fs) rs62640579
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>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+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.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.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.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.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+1G>A rs758593134
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.181-4T>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+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.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.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.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+9C>G rs2038957507
NM_025114.4(CEP290):c.190C>T (p.Gln64Ter) rs1166981120
NM_025114.4(CEP290):c.1910-10_1910-9del rs773520477
NM_025114.4(CEP290):c.1910-1G>A
NM_025114.4(CEP290):c.1910-27_1910-19del
NM_025114.4(CEP290):c.1910-4A>G
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.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+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.2053-4C>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.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.2112del (p.Val705fs) rs863225183
NM_025114.4(CEP290):c.2119_2123dup (p.Thr709fs) rs62640580
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.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.216A>T (p.Glu72Asp)
NM_025114.4(CEP290):c.2173G>A (p.Glu725Lys)
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+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.2218-4C>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.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.2245C>T (p.Leu749Phe) rs2038674474
NM_025114.4(CEP290):c.2247T>C (p.Leu749=) rs762072403
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.2286A>G (p.Gly762=) rs1171982729
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.2315C>A (p.Ser772Tyr) rs2137709342
NM_025114.4(CEP290):c.2317A>T (p.Ser773Cys) rs748976722
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.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.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.2390del (p.Lys797fs) rs781670422
NM_025114.4(CEP290):c.2400T>C (p.Asn800=) rs2038497441
NM_025114.4(CEP290):c.2406del (p.Asp803fs)
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>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.2484-18G>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.2484-9del 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+9C>G rs2040519029
NM_025114.4(CEP290):c.2506_2507del (p.Glu836fs) rs1223251937
NM_025114.4(CEP290):c.251-11del rs752284551
NM_025114.4(CEP290):c.251-19dup rs752284551
NM_025114.4(CEP290):c.251-1G>C rs2138259162
NM_025114.4(CEP290):c.251-20del rs879405859
NM_025114.4(CEP290):c.251-2A>G rs951979448
NM_025114.4(CEP290):c.251-4del rs759170743
NM_025114.4(CEP290):c.251-4dup
NM_025114.4(CEP290):c.2515A>G (p.Thr839Ala) 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.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>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.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.2583T>C (p.Tyr861=)
NM_025114.4(CEP290):c.2586+20C>A
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.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.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.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.2689dup (p.Ile897fs)
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.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.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.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.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.2818-4A>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.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.2864A>G (p.Asn955Ser) rs1443848622
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.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.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.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.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.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+8T>A rs2138257277
NM_025114.4(CEP290):c.297+9T>C rs2138257225
NM_025114.4(CEP290):c.2975A>G (p.Asn992Ser) rs2137539633
NM_025114.4(CEP290):c.298-15G>A
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+17C>T
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.2992-20del
NM_025114.4(CEP290):c.2992-2A>C
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.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.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.3093A>G (p.Glu1031=)
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.3104-8G>A
NM_025114.4(CEP290):c.3104-8G>T
NM_025114.4(CEP290):c.3104-9T>C
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.3121G>A (p.Asp1041Asn)
NM_025114.4(CEP290):c.3123dup (p.Lys1042Ter) rs1555212271
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.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.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.318T>G (p.Gly106=) rs2138217159
NM_025114.4(CEP290):c.3198A>T (p.Glu1066Asp)
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.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.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+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.3310-1_3310delinsAA rs2037150824
NM_025114.4(CEP290):c.3310-2A>G rs2137345150
NM_025114.4(CEP290):c.3310-5C>A rs2137345196
NM_025114.4(CEP290):c.3310-6C>T rs774139392
NM_025114.4(CEP290):c.3310-7del rs2037151700
NM_025114.4(CEP290):c.3313A>C (p.Thr1105Pro) rs772886007
NM_025114.4(CEP290):c.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.3359A>G (p.Asp1120Gly)
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.3418G>A (p.Glu1140Lys) rs766095901
NM_025114.4(CEP290):c.3418G>C (p.Glu1140Gln)
NM_025114.4(CEP290):c.3422dup (p.Leu1141fs) rs770474857
NM_025114.4(CEP290):c.3426G>A (p.Glu1142=) rs2137341818
NM_025114.4(CEP290):c.3431A>G (p.Asn1144Ser) rs2137341520
NM_025114.4(CEP290):c.3432_3434dup (p.Asn1144_Glu1145insAsp) rs2137341409
NM_025114.4(CEP290):c.3441A>G (p.Glu1147=) rs2137341183
NM_025114.4(CEP290):c.3448G>A (p.Val1150Ile) rs2137340972
NM_025114.4(CEP290):c.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.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.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.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.3574-2A>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.3574-9del rs10717563
NM_025114.4(CEP290):c.3577C>T (p.Gln1193Ter)
NM_025114.4(CEP290):c.3591G>A (p.Lys1197=)
NM_025114.4(CEP290):c.3593C>A (p.Ser1198Ter) rs372640024
NM_025114.4(CEP290):c.3603C>T (p.Ala1201=)
NM_025114.4(CEP290):c.3605A>G (p.Lys1202Arg) rs375065584
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.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.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.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.3738del (p.Glu1246fs)
NM_025114.4(CEP290):c.373G>A (p.Glu125Lys)
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.3756T>C (p.Ala1252=)
NM_025114.4(CEP290):c.3761dup (p.Leu1254fs) rs750520052
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.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.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.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.3823A>G (p.Ser1275Gly)
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.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.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.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.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.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.3967T>C (p.Leu1323=)
NM_025114.4(CEP290):c.3972A>G (p.Lys1324=) rs2137269381
NM_025114.4(CEP290):c.3980G>T (p.Gly1327Val) rs959651787
NM_025114.4(CEP290):c.3981C>G (p.Gly1327=)
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.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+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.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>G (p.His1348Arg)
NM_025114.4(CEP290):c.4044T>C (p.His1348=) rs771298371
NM_025114.4(CEP290):c.4050A>G (p.Lys1350=)
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.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>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.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.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.4195-3del
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.4200T>C (p.His1400=) rs2137221395
NM_025114.4(CEP290):c.4201G>T (p.Glu1401Ter)
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.4254A>G (p.Leu1418=)
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.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.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+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.4326C>T (p.Ile1442=)
NM_025114.4(CEP290):c.4338T>C (p.Ser1446=)
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.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.442-7A>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+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.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.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.4634_4637dup (p.Gln1546fs)
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.4655AAG[2] (p.Glu1554del) rs757309583
NM_025114.4(CEP290):c.4656del (p.Glu1553fs) rs62640572
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.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+3A>G
NM_025114.4(CEP290):c.4704+7T>C
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.4714G>T (p.Glu1572Ter) rs1292516576
NM_025114.4(CEP290):c.4714_4715del (p.Glu1572fs)
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.4737A>G (p.Glu1579=) rs2137169332
NM_025114.4(CEP290):c.4737del (p.Asp1580fs) rs1304430926
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.4771C>T (p.Gln1591Ter) rs62640574
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.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.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.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.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.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.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.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.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>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.5012+13A>G
NM_025114.4(CEP290):c.5012+19T>C
NM_025114.4(CEP290):c.5012+20T>A
NM_025114.4(CEP290):c.5012+20T>C
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.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.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.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.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.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.517-5T>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.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.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.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+18A>C
NM_025114.4(CEP290):c.5226+5_5226+8del rs1353301232
NM_025114.4(CEP290):c.5226+7A>G rs2036089729
NM_025114.4(CEP290):c.5226+7_5226+8insGAC rs2036089498
NM_025114.4(CEP290):c.5226+9C>G rs2137100623
NM_025114.4(CEP290):c.5226+9C>T
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.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.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.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.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.5527A>G (p.Ile1843Val)