NM_025114.4(CEP290):c.6645+67G>A
|
rs2471512
|
0.92687
|
NM_025114.4(CEP290):c.853-12_853-11insG
|
rs71082425
|
0.87640
|
NM_025114.4(CEP290):c.2818-50G>C
|
rs2471532
|
0.76931
|
NM_025114.4(CEP290):c.2055T>C (p.Ala685=)
|
rs45465996
|
0.11965
|
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.-33G>T
|
rs139415563
|
0.00894
|
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_025114.3(CEP290):c.-235T>G
|
rs569632834
|
0.00045
|
NM_025114.4(CEP290):c.1360-4T>G
|
rs200328638
|
0.00040
|
NM_025114.4(CEP290):c.943-4C>T
|
rs199770158
|
0.00037
|
NM_025114.4(CEP290):c.943-8A>T
|
rs200729812
|
0.00037
|
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val)
|
rs201569048
|
0.00036
|
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn)
|
rs199747962
|
0.00032
|
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly)
|
rs192259143
|
0.00032
|
NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser)
|
rs191613017
|
0.00032
|
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp)
|
rs201353893
|
0.00031
|
NM_025114.4(CEP290):c.5226+19T>C
|
rs547955106
|
0.00031
|
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg)
|
rs201504946
|
0.00030
|
NM_025114.4(CEP290):c.2991+1655A>G
|
rs281865192
|
0.00029
|
NM_025114.4(CEP290):c.3102A>G (p.Leu1034=)
|
rs201160801
|
0.00029
|
NM_025114.4(CEP290):c.503G>A (p.Arg168His)
|
rs200063017
|
0.00029
|
NM_025114.4(CEP290):c.6078A>G (p.Gln2026=)
|
rs763570903
|
0.00029
|
NM_025114.3(CEP290):c.-295T>C
|
rs374616539
|
0.00026
|
NM_025114.4(CEP290):c.1742A>C (p.Glu581Ala)
|
rs77579747
|
0.00025
|
NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn)
|
rs201982308
|
0.00024
|
NM_025114.4(CEP290):c.4182G>A (p.Val1394=)
|
rs371530941
|
0.00024
|
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys)
|
rs374852145
|
0.00024
|
NM_025114.4(CEP290):c.2615C>T (p.Ser872Leu)
|
rs373341530
|
0.00023
|
NM_025114.4(CEP290):c.3574-15T>A
|
rs565414938
|
0.00022
|
NM_025114.4(CEP290):c.3787C>A (p.Leu1263Met)
|
rs370395204
|
0.00022
|
NM_025114.4(CEP290):c.6558T>G (p.His2186Gln)
|
rs772603458
|
0.00022
|
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)
|
rs77778467
|
0.00022
|
NM_025114.4(CEP290):c.3408A>G (p.Gln1136=)
|
rs11836796
|
0.00021
|
NM_025114.4(CEP290):c.442-18T>A
|
rs532622908
|
0.00021
|
NM_025114.4(CEP290):c.1729C>T (p.Leu577=)
|
rs201295052
|
0.00020
|
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly)
|
rs184323010
|
0.00020
|
NM_025114.4(CEP290):c.853-9G>A
|
rs974759127
|
0.00020
|
NM_025114.4(CEP290):c.-147A>T
|
rs753567406
|
0.00019
|
NM_025114.4(CEP290):c.2446C>T (p.Arg816Cys)
|
rs374656545
|
0.00019
|
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp)
|
rs200969981
|
0.00019
|
NM_025114.4(CEP290):c.4360G>A (p.Glu1454Lys)
|
rs369902368
|
0.00018
|
NM_025114.4(CEP290):c.1918T>C (p.Leu640=)
|
rs541138095
|
0.00017
|
NM_025114.4(CEP290):c.384T>C (p.Asp128=)
|
rs76267039
|
0.00017
|
NM_025114.4(CEP290):c.3955T>C (p.Leu1319=)
|
rs182851622
|
0.00016
|
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu)
|
rs200817579
|
0.00016
|
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys)
|
rs202159966
|
0.00016
|
NM_025114.4(CEP290):c.6522+15T>C
|
rs1050903820
|
0.00015
|
NM_025114.4(CEP290):c.3135A>G (p.Lys1045=)
|
rs370622537
|
0.00014
|
NM_025114.4(CEP290):c.3442C>G (p.Leu1148Val)
|
rs372190684
|
0.00014
|
NM_025114.4(CEP290):c.4317A>C (p.Thr1439=)
|
rs375966721
|
0.00014
|
NM_025114.4(CEP290):c.7075A>C (p.Ile2359Leu)
|
rs183387506
|
0.00014
|
NM_025114.4(CEP290):c.1384G>A (p.Val462Ile)
|
rs374199052
|
0.00013
|
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter)
|
rs386834153
|
0.00013
|
NM_025114.4(CEP290):c.5338G>A (p.Val1780Ile)
|
rs368492668
|
0.00013
|
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)
|
rs200587974
|
0.00013
|
NM_025114.4(CEP290):c.6876C>T (p.Ser2292=)
|
rs538590274
|
0.00013
|
NM_025114.4(CEP290):c.1667T>A (p.Ile556Asn)
|
rs727503854
|
0.00012
|
NM_025114.4(CEP290):c.31A>G (p.Met11Val)
|
rs185939120
|
0.00012
|
NM_025114.4(CEP290):c.4068T>G (p.Leu1356=)
|
rs377227262
|
0.00012
|
NM_025114.4(CEP290):c.4978T>A (p.Leu1660Ile)
|
rs372557655
|
0.00012
|
NM_025114.4(CEP290):c.5125C>A (p.Gln1709Lys)
|
rs367580207
|
0.00012
|
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val)
|
rs183071230
|
0.00012
|
NM_025114.4(CEP290):c.904A>G (p.Ile302Val)
|
rs764495570
|
0.00012
|
NM_025114.4(CEP290):c.2473G>A (p.Glu825Lys)
|
rs779666225
|
0.00011
|
NM_025114.4(CEP290):c.3195G>A (p.Lys1065=)
|
rs778596948
|
0.00011
|
NM_025114.4(CEP290):c.4088G>A (p.Arg1363Gln)
|
rs188502327
|
0.00011
|
NM_025114.4(CEP290):c.4741C>T (p.Leu1581Phe)
|
rs11831931
|
0.00011
|
NM_025114.4(CEP290):c.5521G>A (p.Glu1841Lys)
|
rs200158553
|
0.00011
|
NM_025114.4(CEP290):c.6142G>C (p.Gly2048Arg)
|
rs377000187
|
0.00011
|
NM_025114.4(CEP290):c.6572A>T (p.His2191Leu)
|
rs368428115
|
0.00011
|
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His)
|
rs371833544
|
0.00011
|
NM_025114.4(CEP290):c.6960+9C>T
|
rs373226012
|
0.00011
|
NM_025114.4(CEP290):c.93C>T (p.Ser31=)
|
rs375955381
|
0.00011
|
NM_025114.4(CEP290):c.298-15G>T
|
rs756197493
|
0.00010
|
NM_025114.4(CEP290):c.3773A>G (p.Asn1258Ser)
|
rs200830750
|
0.00010
|
NM_025114.4(CEP290):c.4438-13T>C
|
rs528298900
|
0.00010
|
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=)
|
rs371582975
|
0.00010
|
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala)
|
rs375817905
|
0.00010
|
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys)
|
rs373307908
|
0.00010
|
NM_025114.4(CEP290):c.6005A>G (p.Tyr2002Cys)
|
rs573872325
|
0.00010
|
NM_025114.4(CEP290):c.6806T>C (p.Ile2269Thr)
|
rs200090371
|
0.00010
|
NM_025114.4(CEP290):c.1523-6T>C
|
rs755202424
|
0.00009
|
NM_025114.4(CEP290):c.1825-8T>G
|
rs769405843
|
0.00009
|
NM_025114.4(CEP290):c.2098C>T (p.His700Tyr)
|
rs369104382
|
0.00009
|
NM_025114.4(CEP290):c.4437+1G>A
|
rs760915898
|
0.00009
|
NM_025114.4(CEP290):c.4577A>T (p.Glu1526Val)
|
rs760625332
|
0.00009
|
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)
|
rs137852834
|
0.00009
|
NM_025114.4(CEP290):c.5012+10C>T
|
rs191369238
|
0.00009
|
NM_025114.4(CEP290):c.5055G>A (p.Ala1685=)
|
rs73192874
|
0.00009
|
NM_025114.4(CEP290):c.5421A>G (p.Thr1807=)
|
rs370464321
|
0.00009
|
NM_025114.4(CEP290):c.102+15A>G
|
rs372102947
|
0.00008
|
NM_025114.4(CEP290):c.1360-10T>C
|
rs372180862
|
0.00008
|
NM_025114.4(CEP290):c.4343C>G (p.Pro1448Arg)
|
rs757356455
|
0.00008
|
NM_025114.4(CEP290):c.6986A>G (p.Glu2329Gly)
|
rs772648931
|
0.00008
|
NM_025114.4(CEP290):c.974T>C (p.Ile325Thr)
|
rs769705837
|
0.00008
|
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)
|
rs140236736
|
0.00007
|
NM_025114.4(CEP290):c.3486C>T (p.Ala1162=)
|
rs376583223
|
0.00007
|
NM_025114.4(CEP290):c.3778G>A (p.Ala1260Thr)
|
rs375609644
|
0.00007
|
NM_025114.4(CEP290):c.4695A>G (p.Lys1565=)
|
rs189871589
|
0.00007
|
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)
|
rs376493409
|
0.00007
|
NM_025114.4(CEP290):c.5395T>G (p.Leu1799Val)
|
rs1289111857
|
0.00007
|
NM_025114.4(CEP290):c.660T>C (p.Asp220=)
|
rs777201814
|
0.00007
|
NM_025114.4(CEP290):c.-41C>T
|
rs759820573
|
0.00006
|
NM_025114.4(CEP290):c.1440A>G (p.Glu480=)
|
rs777299440
|
0.00006
|
NM_025114.4(CEP290):c.1712-14T>A
|
rs765835575
|
0.00006
|
NM_025114.4(CEP290):c.189T>C (p.Ala63=)
|
rs996908777
|
0.00006
|
NM_025114.4(CEP290):c.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.755A>T (p.Lys252Met)
|
rs991079890
|
0.00006
|
NM_025114.4(CEP290):c.1105G>A (p.Glu369Lys)
|
rs373414042
|
0.00005
|
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)
|
rs386834152
|
0.00005
|
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala)
|
rs375038986
|
0.00005
|
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser)
|
rs147362398
|
0.00005
|
NM_025114.4(CEP290):c.2967A>G (p.Arg989=)
|
rs371556205
|
0.00005
|
NM_025114.4(CEP290):c.4186C>G (p.Gln1396Glu)
|
rs1459653241
|
0.00005
|
NM_025114.4(CEP290):c.441+18T>C
|
rs756876705
|
0.00005
|
NM_025114.4(CEP290):c.4865G>A (p.Arg1622His)
|
rs758453972
|
0.00005
|
NM_025114.4(CEP290):c.5127G>T (p.Gln1709His)
|
rs757738553
|
0.00005
|
NM_025114.4(CEP290):c.6358-4G>A
|
rs369154492
|
0.00005
|
NM_025114.4(CEP290):c.998A>C (p.Asn333Thr)
|
rs376033047
|
0.00005
|
NM_025114.4(CEP290):c.-96C>T
|
rs528270888
|
0.00004
|
NM_025114.4(CEP290):c.1104C>T (p.Thr368=)
|
rs483352755
|
0.00004
|
NM_025114.4(CEP290):c.1712-3T>C
|
rs376688469
|
0.00004
|
NM_025114.4(CEP290):c.1905T>C (p.Asn635=)
|
rs778341097
|
0.00004
|
NM_025114.4(CEP290):c.1945G>A (p.Glu649Lys)
|
rs761705359
|
0.00004
|
NM_025114.4(CEP290):c.204G>A (p.Leu68=)
|
rs780930630
|
0.00004
|
NM_025114.4(CEP290):c.2129G>C (p.Gly710Ala)
|
rs969763835
|
0.00004
|
NM_025114.4(CEP290):c.2217+6A>G
|
rs139027723
|
0.00004
|
NM_025114.4(CEP290):c.2218-5T>C
|
rs939517627
|
0.00004
|
NM_025114.4(CEP290):c.2218A>G (p.Ile740Val)
|
rs754736974
|
0.00004
|
NM_025114.4(CEP290):c.2244T>C (p.Ser748=)
|
rs979564116
|
0.00004
|
NM_025114.4(CEP290):c.2740A>G (p.Asn914Asp)
|
rs372321551
|
0.00004
|
NM_025114.4(CEP290):c.2784T>C (p.Val928=)
|
rs774271927
|
0.00004
|
NM_025114.4(CEP290):c.288T>C (p.Asn96=)
|
rs367691481
|
0.00004
|
NM_025114.4(CEP290):c.2907C>T (p.Tyr969=)
|
rs376462144
|
0.00004
|
NM_025114.4(CEP290):c.3028A>G (p.Ile1010Val)
|
rs1038566350
|
0.00004
|
NM_025114.4(CEP290):c.3230A>G (p.Gln1077Arg)
|
rs200668620
|
0.00004
|
NM_025114.4(CEP290):c.3273G>A (p.Glu1091=)
|
rs771584252
|
0.00004
|
NM_025114.4(CEP290):c.332G>A (p.Arg111Gln)
|
rs562747993
|
0.00004
|
NM_025114.4(CEP290):c.3462-11T>C
|
rs1296210160
|
0.00004
|
NM_025114.4(CEP290):c.3747C>T (p.Leu1249=)
|
rs779178851
|
0.00004
|
NM_025114.4(CEP290):c.3758G>A (p.Arg1253His)
|
rs763801479
|
0.00004
|
NM_025114.4(CEP290):c.3791G>A (p.Arg1264His)
|
rs774144082
|
0.00004
|
NM_025114.4(CEP290):c.3810A>G (p.Leu1270=)
|
rs769060806
|
0.00004
|
NM_025114.4(CEP290):c.4064G>A (p.Arg1355His)
|
rs548558619
|
0.00004
|
NM_025114.4(CEP290):c.4132A>G (p.Ile1378Val)
|
rs532041890
|
0.00004
|
NM_025114.4(CEP290):c.4151G>A (p.Arg1384His)
|
rs143152287
|
0.00004
|
NM_025114.4(CEP290):c.4240C>G (p.Leu1414Val)
|
rs762417751
|
0.00004
|
NM_025114.4(CEP290):c.4404A>G (p.Leu1468=)
|
rs779186037
|
0.00004
|
NM_025114.4(CEP290):c.4438-3del
|
rs747323414
|
0.00004
|
NM_025114.4(CEP290):c.4523G>A (p.Arg1508Gln)
|
rs568197175
|
0.00004
|
NM_025114.4(CEP290):c.4809T>C (p.Ala1603=)
|
rs372592245
|
0.00004
|
NM_025114.4(CEP290):c.4963A>C (p.Arg1655=)
|
rs1161295348
|
0.00004
|
NM_025114.4(CEP290):c.5012+11G>A
|
rs778779951
|
0.00004
|
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter)
|
rs772170760
|
0.00004
|
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter)
|
rs370119681
|
0.00004
|
NM_025114.4(CEP290):c.5186G>A (p.Arg1729Gln)
|
rs535531689
|
0.00004
|
NM_025114.4(CEP290):c.5665G>C (p.Glu1889Gln)
|
rs186330724
|
0.00004
|
NM_025114.4(CEP290):c.5724A>C (p.Glu1908Asp)
|
rs769370948
|
0.00004
|
NM_025114.4(CEP290):c.5896A>G (p.Thr1966Ala)
|
rs780570235
|
0.00004
|
NM_025114.4(CEP290):c.609C>T (p.Asp203=)
|
rs767725492
|
0.00004
|
NM_025114.4(CEP290):c.6191A>G (p.Glu2064Gly)
|
rs987259388
|
0.00004
|
NM_025114.4(CEP290):c.7073_7077dup (p.His2360Ter)
|
rs1294402003
|
0.00004
|
NM_025114.4(CEP290):c.7079A>C (p.His2360Pro)
|
rs1006780282
|
0.00004
|
NM_025114.4(CEP290):c.814G>A (p.Asp272Asn)
|
rs866480852
|
0.00004
|
NM_025114.4(CEP290):c.1192G>T (p.Ala398Ser)
|
rs764079993
|
0.00003
|
NM_025114.4(CEP290):c.1359G>A (p.Ser453=)
|
rs779195306
|
0.00003
|
NM_025114.4(CEP290):c.1386C>T (p.Val462=)
|
rs886038689
|
0.00003
|
NM_025114.4(CEP290):c.1387G>A (p.Val463Ile)
|
rs558414868
|
0.00003
|
NM_025114.4(CEP290):c.1669C>T (p.Arg557Cys)
|
rs561018129
|
0.00003
|
NM_025114.4(CEP290):c.2029C>T (p.Pro677Ser)
|
rs375523390
|
0.00003
|
NM_025114.4(CEP290):c.2267C>T (p.Ser756Leu)
|
rs761111801
|
0.00003
|
NM_025114.4(CEP290):c.2367+4T>C
|
rs1413934261
|
0.00003
|
NM_025114.4(CEP290):c.2368-7T>C
|
rs1470044444
|
0.00003
|
NM_025114.4(CEP290):c.2447G>A (p.Arg816His)
|
rs768448895
|
0.00003
|
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)
|
rs886042153
|
0.00003
|
NM_025114.4(CEP290):c.3178A>G (p.Thr1060Ala)
|
rs948383352
|
0.00003
|
NM_025114.4(CEP290):c.3246C>T (p.His1082=)
|
rs539042966
|
0.00003
|
NM_025114.4(CEP290):c.3310-7T>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.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.6444T>C (p.Asn2148=)
|
rs368101871
|
0.00002
|
NM_025114.4(CEP290):c.6522+6_6522+7insA
|
rs748258476
|
0.00002
|
NM_025114.4(CEP290):c.6534A>G (p.Glu2178=)
|
rs759956779
|
0.00002
|
NM_025114.4(CEP290):c.6571C>G (p.His2191Asp)
|
rs769798212
|
0.00002
|
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter)
|
rs760540562
|
0.00002
|
NM_025114.4(CEP290):c.6818+9A>G
|
rs748162184
|
0.00002
|
NM_025114.4(CEP290):c.7083G>T (p.Gln2361His)
|
rs201801456
|
0.00002
|
NM_025114.4(CEP290):c.7169C>G (p.Thr2390Arg)
|
rs776216960
|
0.00002
|
NM_025114.4(CEP290):c.735G>A (p.Glu245=)
|
rs917730125
|
0.00002
|
NM_025114.4(CEP290):c.739G>A (p.Val247Ile)
|
rs1409885182
|
0.00002
|
NM_025114.4(CEP290):c.835G>A (p.Asp279Asn)
|
rs796540607
|
0.00002
|
NM_025114.4(CEP290):c.943-18T>C
|
rs754330511
|
0.00002
|
NM_025114.4(CEP290):c.996T>C (p.His332=)
|
rs746022535
|
0.00002
|
NM_025114.4(CEP290):c.-203C>A
|
rs961052158
|
0.00001
|
NM_025114.4(CEP290):c.-38G>C
|
rs886049886
|
0.00001
|
NM_025114.4(CEP290):c.1002A>G (p.Leu334=)
|
rs757621266
|
0.00001
|
NM_025114.4(CEP290):c.101A>T (p.Lys34Met)
|
rs574089816
|
0.00001
|
NM_025114.4(CEP290):c.102+13T>C
|
rs773325354
|
0.00001
|
NM_025114.4(CEP290):c.102+9T>C
|
rs757243626
|
0.00001
|
NM_025114.4(CEP290):c.1028T>C (p.Leu343Pro)
|
rs1429640081
|
0.00001
|
NM_025114.4(CEP290):c.103-17C>T
|
rs976920583
|
0.00001
|
NM_025114.4(CEP290):c.1042A>T (p.Ser348Cys)
|
rs753281190
|
0.00001
|
NM_025114.4(CEP290):c.1057C>T (p.Leu353=)
|
rs1036812157
|
0.00001
|
NM_025114.4(CEP290):c.1066-17T>C
|
rs761615192
|
0.00001
|
NM_025114.4(CEP290):c.1066-3T>C
|
rs996569804
|
0.00001
|
NM_025114.4(CEP290):c.1066-4A>G
|
rs2039668462
|
0.00001
|
NM_025114.4(CEP290):c.10A>G (p.Asn4Asp)
|
rs997653455
|
0.00001
|
NM_025114.4(CEP290):c.1107A>G (p.Glu369=)
|
rs1202218217
|
0.00001
|
NM_025114.4(CEP290):c.1150A>G (p.Ile384Val)
|
rs375428355
|
0.00001
|
NM_025114.4(CEP290):c.1169A>G (p.Asn390Ser)
|
rs891165640
|
0.00001
|
NM_025114.4(CEP290):c.1190-19T>C
|
rs892306905
|
0.00001
|
NM_025114.4(CEP290):c.1190-2A>G
|
rs200818935
|
0.00001
|
NM_025114.4(CEP290):c.1190-8C>T
|
rs764602507
|
0.00001
|
NM_025114.4(CEP290):c.1198A>G (p.Thr400Ala)
|
rs772026871
|
0.00001
|
NM_025114.4(CEP290):c.1214C>T (p.Thr405Ile)
|
rs781183605
|
0.00001
|
NM_025114.4(CEP290):c.1236G>A (p.Thr412=)
|
rs534187846
|
0.00001
|
NM_025114.4(CEP290):c.1255A>G (p.Lys419Glu)
|
rs376808205
|
0.00001
|
NM_025114.4(CEP290):c.1334_1339del (p.Leu445_Lys446del)
|
rs1323191320
|
0.00001
|
NM_025114.4(CEP290):c.1345A>G (p.Lys449Glu)
|
rs747463477
|
0.00001
|
NM_025114.4(CEP290):c.1359+7A>T
|
rs2039362896
|
0.00001
|
NM_025114.4(CEP290):c.136G>A (p.Glu46Lys)
|
rs1018550969
|
0.00001
|
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter)
|
rs1170451277
|
0.00001
|
NM_025114.4(CEP290):c.1430G>A (p.Arg477Gln)
|
rs748917889
|
0.00001
|
NM_025114.4(CEP290):c.144G>A (p.Val48=)
|
rs752484237
|
0.00001
|
NM_025114.4(CEP290):c.1455A>G (p.Glu485=)
|
rs755893750
|
0.00001
|
NM_025114.4(CEP290):c.1464A>G (p.Lys488=)
|
rs747644093
|
0.00001
|
NM_025114.4(CEP290):c.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.2456A>T (p.Gln819Leu)
|
rs1209421607
|
0.00001
|
NM_025114.4(CEP290):c.2483+3_2483+7dup
|
rs1461768571
|
0.00001
|
NM_025114.4(CEP290):c.2490G>A (p.Lys830=)
|
rs1487806486
|
0.00001
|
NM_025114.4(CEP290):c.2546A>T (p.Asp849Val)
|
rs1313832672
|
0.00001
|
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile)
|
rs764963626
|
0.00001
|
NM_025114.4(CEP290):c.2587-19T>C
|
rs755086278
|
0.00001
|
NM_025114.4(CEP290):c.2587-3C>T
|
rs759025964
|
0.00001
|
NM_025114.4(CEP290):c.2587-6G>A
|
rs2038323989
|
0.00001
|
NM_025114.4(CEP290):c.2587-9T>C
|
rs766982108
|
0.00001
|
NM_025114.4(CEP290):c.2605C>T (p.Gln869Ter)
|
rs903257336
|
0.00001
|
NM_025114.4(CEP290):c.2608A>C (p.Met870Leu)
|
rs2038321332
|
0.00001
|
NM_025114.4(CEP290):c.2688T>C (p.Leu896=)
|
rs2038314751
|
0.00001
|
NM_025114.4(CEP290):c.2691A>G (p.Ile897Met)
|
rs774079924
|
0.00001
|
NM_025114.4(CEP290):c.2712A>G (p.Val904=)
|
rs1371763035
|
0.00001
|
NM_025114.4(CEP290):c.2721G>A (p.Glu907=)
|
rs1238362600
|
0.00001
|
NM_025114.4(CEP290):c.274A>G (p.Met92Val)
|
rs951351175
|
0.00001
|
NM_025114.4(CEP290):c.2756A>G (p.Asn919Ser)
|
rs1489447514
|
0.00001
|
NM_025114.4(CEP290):c.2772G>A (p.Met924Ile)
|
rs1000757966
|
0.00001
|
NM_025114.4(CEP290):c.2778T>C (p.Ala926=)
|
rs767032720
|
0.00001
|
NM_025114.4(CEP290):c.2826C>G (p.Ala942=)
|
rs1456663660
|
0.00001
|
NM_025114.4(CEP290):c.2839G>T (p.Ala947Ser)
|
rs967541984
|
0.00001
|
NM_025114.4(CEP290):c.2861A>G (p.Asp954Gly)
|
rs886049882
|
0.00001
|
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe)
|
rs546463648
|
0.00001
|
NM_025114.4(CEP290):c.2880T>C (p.Ser960=)
|
rs778138631
|
0.00001
|
NM_025114.4(CEP290):c.2909A>G (p.Asn970Ser)
|
rs951200727
|
0.00001
|
NM_025114.4(CEP290):c.291A>G (p.Glu97=)
|
rs757402765
|
0.00001
|
NM_025114.4(CEP290):c.2929A>C (p.Arg977=)
|
rs765840717
|
0.00001
|
NM_025114.4(CEP290):c.2940G>A (p.Leu980=)
|
rs750343200
|
0.00001
|
NM_025114.4(CEP290):c.297+16T>C
|
rs547662093
|
0.00001
|
NM_025114.4(CEP290):c.297+1G>T
|
rs878853360
|
0.00001
|
NM_025114.4(CEP290):c.2974A>G (p.Asn992Asp)
|
rs1265448566
|
0.00001
|
NM_025114.4(CEP290):c.298-11A>G
|
rs748232723
|
0.00001
|
NM_025114.4(CEP290):c.2991+11G>A
|
rs1214417467
|
0.00001
|
NM_025114.4(CEP290):c.2991G>A (p.Glu997=)
|
rs2037995979
|
0.00001
|
NM_025114.4(CEP290):c.2T>A (p.Met1Lys)
|
rs368984997
|
0.00001
|
NM_025114.4(CEP290):c.3006C>T (p.Ser1002=)
|
rs748493455
|
0.00001
|
NM_025114.4(CEP290):c.3016C>G (p.Gln1006Glu)
|
rs1201691161
|
0.00001
|
NM_025114.4(CEP290):c.3024G>A (p.Glu1008=)
|
rs1227765663
|
0.00001
|
NM_025114.4(CEP290):c.3030A>C (p.Ile1010=)
|
rs1280566129
|
0.00001
|
NM_025114.4(CEP290):c.303T>G (p.Ala101=)
|
rs2040376122
|
0.00001
|
NM_025114.4(CEP290):c.3060A>G (p.Lys1020=)
|
rs948320708
|
0.00001
|
NM_025114.4(CEP290):c.3064C>T (p.His1022Tyr)
|
rs916545578
|
0.00001
|
NM_025114.4(CEP290):c.306G>A (p.Gln102=)
|
rs755418283
|
0.00001
|
NM_025114.4(CEP290):c.307C>T (p.Gln103Ter)
|
rs752144368
|
0.00001
|
NM_025114.4(CEP290):c.3098A>C (p.Lys1033Thr)
|
rs1421960607
|
0.00001
|
NM_025114.4(CEP290):c.3104-5T>G
|
rs1302558061
|
0.00001
|
NM_025114.4(CEP290):c.3108T>C (p.Asn1036=)
|
rs2037242478
|
0.00001
|
NM_025114.4(CEP290):c.3129A>G (p.Ala1043=)
|
rs2037240316
|
0.00001
|
NM_025114.4(CEP290):c.3167C>A (p.Ser1056Ter)
|
rs1267970567
|
0.00001
|
NM_025114.4(CEP290):c.3176T>A (p.Ile1059Lys)
|
rs928926898
|
0.00001
|
NM_025114.4(CEP290):c.3180T>G (p.Thr1060=)
|
rs552585004
|
0.00001
|
NM_025114.4(CEP290):c.3185del (p.Leu1062fs)
|
rs863225189
|
0.00001
|
NM_025114.4(CEP290):c.3203A>G (p.Asn1068Ser)
|
rs1276779845
|
0.00001
|
NM_025114.4(CEP290):c.3225T>C (p.His1075=)
|
rs1238044392
|
0.00001
|
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter)
|
rs1290241933
|
0.00001
|
NM_025114.4(CEP290):c.3234A>G (p.Lys1078=)
|
rs376027433
|
0.00001
|
NM_025114.4(CEP290):c.3240T>C (p.Tyr1080=)
|
rs886042467
|
0.00001
|
NM_025114.4(CEP290):c.3257C>T (p.Ser1086Leu)
|
rs760934388
|
0.00001
|
NM_025114.4(CEP290):c.3258G>A (p.Ser1086=)
|
rs775973036
|
0.00001
|
NM_025114.4(CEP290):c.3277C>T (p.Arg1093Cys)
|
rs778508890
|
0.00001
|
NM_025114.4(CEP290):c.3309+2T>C
|
rs1007902545
|
0.00001
|
NM_025114.4(CEP290):c.3310-10A>G
|
rs1178248633
|
0.00001
|
NM_025114.4(CEP290):c.3310-20T>C
|
rs1446567922
|
0.00001
|
NM_025114.4(CEP290):c.331C>T (p.Arg111Trp)
|
rs1051440600
|
0.00001
|
NM_025114.4(CEP290):c.3323A>G (p.Asn1108Ser)
|
rs373207132
|
0.00001
|
NM_025114.4(CEP290):c.3342G>A (p.Val1114=)
|
rs754811220
|
0.00001
|
NM_025114.4(CEP290):c.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.4177A>G (p.Ile1393Val)
|
rs2036709987
|
0.00001
|
NM_025114.4(CEP290):c.419A>G (p.Lys140Arg)
|
rs750776051
|
0.00001
|
NM_025114.4(CEP290):c.4246C>T (p.Arg1416Cys)
|
rs776812442
|
0.00001
|
NM_025114.4(CEP290):c.4251A>G (p.Gln1417=)
|
rs775279240
|
0.00001
|
NM_025114.4(CEP290):c.4257C>A (p.Asp1419Glu)
|
rs771898047
|
0.00001
|
NM_025114.4(CEP290):c.4288A>C (p.Asn1430His)
|
rs749261915
|
0.00001
|
NM_025114.4(CEP290):c.4299A>G (p.Gln1433=)
|
rs1457015763
|
0.00001
|
NM_025114.4(CEP290):c.4302+5G>A
|
rs1013125589
|
0.00001
|
NM_025114.4(CEP290):c.4303-15A>G
|
rs767235408
|
0.00001
|
NM_025114.4(CEP290):c.4320A>T (p.Gly1440=)
|
rs372184970
|
0.00001
|
NM_025114.4(CEP290):c.4337G>A (p.Ser1446Asn)
|
rs746106679
|
0.00001
|
NM_025114.4(CEP290):c.4344C>T (p.Pro1448=)
|
rs2036556391
|
0.00001
|
NM_025114.4(CEP290):c.4365C>T (p.Ile1455=)
|
rs552731286
|
0.00001
|
NM_025114.4(CEP290):c.4368T>G (p.Ala1456=)
|
rs772640114
|
0.00001
|
NM_025114.4(CEP290):c.437del (p.Glu146fs)
|
rs1452465499
|
0.00001
|
NM_025114.4(CEP290):c.4383G>T (p.Lys1461Asn)
|
rs769732992
|
0.00001
|
NM_025114.4(CEP290):c.441+14T>G
|
rs765642954
|
0.00001
|
NM_025114.4(CEP290):c.4431A>G (p.Leu1477=)
|
rs1435937461
|
0.00001
|
NM_025114.4(CEP290):c.4438-18A>G
|
rs761675817
|
0.00001
|
NM_025114.4(CEP290):c.4441C>T (p.Leu1481=)
|
rs1220385672
|
0.00001
|
NM_025114.4(CEP290):c.4471G>A (p.Ala1491Thr)
|
rs771133112
|
0.00001
|
NM_025114.4(CEP290):c.4485A>G (p.Ile1495Met)
|
rs1328019408
|
0.00001
|
NM_025114.4(CEP290):c.4486C>A (p.Leu1496Met)
|
rs1026690396
|
0.00001
|
NM_025114.4(CEP290):c.4501G>A (p.Val1501Ile)
|
rs769989974
|
0.00001
|
NM_025114.4(CEP290):c.4518G>A (p.Arg1506=)
|
rs748296011
|
0.00001
|
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter)
|
rs757641323
|
0.00001
|
NM_025114.4(CEP290):c.452G>A (p.Arg151Gln)
|
rs753374614
|
0.00001
|
NM_025114.4(CEP290):c.4566A>G (p.Leu1522=)
|
rs763991371
|
0.00001
|
NM_025114.4(CEP290):c.4614T>C (p.Ala1538=)
|
rs747484394
|
0.00001
|
NM_025114.4(CEP290):c.4634T>C (p.Met1545Thr)
|
rs1217427527
|
0.00001
|
NM_025114.4(CEP290):c.4651C>T (p.Gln1551Ter)
|
rs746305733
|
0.00001
|
NM_025114.4(CEP290):c.4681C>T (p.Arg1561Cys)
|
rs763605289
|
0.00001
|
NM_025114.4(CEP290):c.4697C>T (p.Ala1566Val)
|
rs751408783
|
0.00001
|
NM_025114.4(CEP290):c.4705-1G>T
|
rs777464278
|
0.00001
|
NM_025114.4(CEP290):c.4730A>G (p.His1577Arg)
|
rs751352443
|
0.00001
|
NM_025114.4(CEP290):c.4734G>A (p.Glu1578=)
|
rs1409082857
|
0.00001
|
NM_025114.4(CEP290):c.4736A>T (p.Glu1579Val)
|
rs760059883
|
0.00001
|
NM_025114.4(CEP290):c.4812+6A>T
|
rs769525877
|
0.00001
|
NM_025114.4(CEP290):c.4812+9C>T
|
rs747569970
|
0.00001
|
NM_025114.4(CEP290):c.4813G>T (p.Asp1605Tyr)
|
rs554863859
|
0.00001
|
NM_025114.4(CEP290):c.4817T>C (p.Leu1606Ser)
|
rs767636506
|
0.00001
|
NM_025114.4(CEP290):c.4824A>G (p.Lys1608=)
|
rs1273344761
|
0.00001
|
NM_025114.4(CEP290):c.4839A>G (p.Pro1613=)
|
rs1273165449
|
0.00001
|
NM_025114.4(CEP290):c.4854G>T (p.Lys1618Asn)
|
rs747852436
|
0.00001
|
NM_025114.4(CEP290):c.4887A>T (p.Thr1629=)
|
rs1179886652
|
0.00001
|
NM_025114.4(CEP290):c.4893A>C (p.Ala1631=)
|
rs752956198
|
0.00001
|
NM_025114.4(CEP290):c.4920C>G (p.Leu1640=)
|
rs1330745435
|
0.00001
|
NM_025114.4(CEP290):c.4936A>C (p.Lys1646Gln)
|
rs1348715646
|
0.00001
|
NM_025114.4(CEP290):c.4941A>G (p.Val1647=)
|
rs776334632
|
0.00001
|
NM_025114.4(CEP290):c.4948G>T (p.Asp1650Tyr)
|
rs368057362
|
0.00001
|
NM_025114.4(CEP290):c.496-4G>A
|
rs1263086196
|
0.00001
|
NM_025114.4(CEP290):c.496-6C>T
|
rs776649058
|
0.00001
|
NM_025114.4(CEP290):c.4C>T (p.Pro2Ser)
|
rs1064795491
|
0.00001
|
NM_025114.4(CEP290):c.5012+2T>C
|
rs1369768287
|
0.00001
|
NM_025114.4(CEP290):c.5012+7C>T
|
rs1459836393
|
0.00001
|
NM_025114.4(CEP290):c.5013-17A>G
|
rs2036114425
|
0.00001
|
NM_025114.4(CEP290):c.5019A>G (p.Gln1673=)
|
rs1259897302
|
0.00001
|
NM_025114.4(CEP290):c.5028T>C (p.His1676=)
|
rs775086368
|
0.00001
|
NM_025114.4(CEP290):c.5073G>A (p.Lys1691=)
|
rs768807929
|
0.00001
|
NM_025114.4(CEP290):c.50A>C (p.Asp17Ala)
|
rs1182703361
|
0.00001
|
NM_025114.4(CEP290):c.5163del (p.Thr1722fs)
|
rs1565827171
|
0.00001
|
NM_025114.4(CEP290):c.5167A>G (p.Met1723Val)
|
rs542400806
|
0.00001
|
NM_025114.4(CEP290):c.517-17T>C
|
rs760912729
|
0.00001
|
NM_025114.4(CEP290):c.5181A>T (p.Val1727=)
|
rs1002651698
|
0.00001
|
NM_025114.4(CEP290):c.5218C>G (p.Gln1740Glu)
|
rs936648881
|
0.00001
|
NM_025114.4(CEP290):c.521A>T (p.Glu174Val)
|
rs774484028
|
0.00001
|
NM_025114.4(CEP290):c.5256G>A (p.Arg1752=)
|
rs754590700
|
0.00001
|
NM_025114.4(CEP290):c.5259A>C (p.Ala1753=)
|
rs747328752
|
0.00001
|
NM_025114.4(CEP290):c.5283A>G (p.Glu1761=)
|
rs749975524
|
0.00001
|
NM_025114.4(CEP290):c.5337C>T (p.Ile1779=)
|
rs1367796637
|
0.00001
|
NM_025114.4(CEP290):c.533A>G (p.Gln178Arg)
|
rs773591434
|
0.00001
|
NM_025114.4(CEP290):c.5385T>C (p.Asn1795=)
|
rs1452561924
|
0.00001
|
NM_025114.4(CEP290):c.5423G>A (p.Ser1808Asn)
|
rs763278328
|
0.00001
|
NM_025114.4(CEP290):c.5442A>G (p.Ser1814=)
|
rs1161234355
|
0.00001
|
NM_025114.4(CEP290):c.5449G>T (p.Asp1817Tyr)
|
rs1565822715
|
0.00001
|
NM_025114.4(CEP290):c.5459A>G (p.Asn1820Ser)
|
rs776980750
|
0.00001
|
NM_025114.4(CEP290):c.5480A>C (p.Gln1827Pro)
|
rs771657596
|
0.00001
|
NM_025114.4(CEP290):c.5523G>A (p.Glu1841=)
|
rs753424189
|
0.00001
|
NM_025114.4(CEP290):c.5526A>G (p.Glu1842=)
|
rs777528087
|
0.00001
|
NM_025114.4(CEP290):c.5541T>C (p.Asn1847=)
|
rs931780353
|
0.00001
|
NM_025114.4(CEP290):c.5543A>G (p.Asp1848Gly)
|
rs563967678
|
0.00001
|
NM_025114.4(CEP290):c.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.6193A>G (p.Asn2065Asp)
|
rs886043119
|
0.00001
|
NM_025114.4(CEP290):c.6207A>G (p.Ser2069=)
|
rs1327169453
|
0.00001
|
NM_025114.4(CEP290):c.6235C>A (p.Leu2079Ile)
|
rs753687613
|
0.00001
|
NM_025114.4(CEP290):c.6256T>C (p.Leu2086=)
|
rs374183249
|
0.00001
|
NM_025114.4(CEP290):c.6270+19A>G
|
rs1181927624
|
0.00001
|
NM_025114.4(CEP290):c.634A>T (p.Asn212Tyr)
|
rs527704077
|
0.00001
|
NM_025114.4(CEP290):c.6358-1G>A
|
rs766670248
|
0.00001
|
NM_025114.4(CEP290):c.6371G>A (p.Gly2124Glu)
|
rs752851135
|
0.00001
|
NM_025114.4(CEP290):c.6375G>A (p.Lys2125=)
|
rs1408298921
|
0.00001
|
NM_025114.4(CEP290):c.6381C>T (p.Ile2127=)
|
rs761864807
|
0.00001
|
NM_025114.4(CEP290):c.6426A>G (p.Glu2142=)
|
rs1303402400
|
0.00001
|
NM_025114.4(CEP290):c.6460G>A (p.Ala2154Thr)
|
rs1319955144
|
0.00001
|
NM_025114.4(CEP290):c.6493A>T (p.Asn2165Tyr)
|
rs769886105
|
0.00001
|
NM_025114.4(CEP290):c.6525T>C (p.Ala2175=)
|
rs2034343634
|
0.00001
|
NM_025114.4(CEP290):c.6547C>T (p.His2183Tyr)
|
rs535765861
|
0.00001
|
NM_025114.4(CEP290):c.6555G>A (p.Gly2185=)
|
rs1282398701
|
0.00001
|
NM_025114.4(CEP290):c.6575A>G (p.Tyr2192Cys)
|
rs1222842886
|
0.00001
|
NM_025114.4(CEP290):c.6580T>A (p.Ser2194Thr)
|
rs768539400
|
0.00001
|
NM_025114.4(CEP290):c.6599A>G (p.Glu2200Gly)
|
rs779145328
|
0.00001
|
NM_025114.4(CEP290):c.6624G>C (p.Arg2208Ser)
|
rs777841957
|
0.00001
|
NM_025114.4(CEP290):c.6642A>G (p.Lys2214=)
|
rs1409872235
|
0.00001
|
NM_025114.4(CEP290):c.6645+6A>T
|
rs765992358
|
0.00001
|
NM_025114.4(CEP290):c.6648A>G (p.Glu2216=)
|
rs1048414150
|
0.00001
|
NM_025114.4(CEP290):c.6666A>G (p.Lys2222=)
|
rs544886883
|
0.00001
|
NM_025114.4(CEP290):c.6671G>A (p.Arg2224Gln)
|
rs1214939378
|
0.00001
|
NM_025114.4(CEP290):c.669+20A>G
|
rs373119842
|
0.00001
|
NM_025114.4(CEP290):c.669+8G>T
|
rs768408897
|
0.00001
|
NM_025114.4(CEP290):c.6697T>C (p.Leu2233=)
|
rs755447230
|
0.00001
|
NM_025114.4(CEP290):c.6703G>T (p.Glu2235Ter)
|
rs1375836634
|
0.00001
|
NM_025114.4(CEP290):c.6778G>C (p.Gly2260Arg)
|
rs371397659
|
0.00001
|
NM_025114.4(CEP290):c.6791A>G (p.Lys2264Arg)
|
rs535571590
|
0.00001
|
NM_025114.4(CEP290):c.6807T>G (p.Ile2269Met)
|
rs1355908667
|
0.00001
|
NM_025114.4(CEP290):c.6818+5G>A
|
rs935214183
|
0.00001
|
NM_025114.4(CEP290):c.6819-10A>G
|
rs150241790
|
0.00001
|
NM_025114.4(CEP290):c.6859G>A (p.Ala2287Thr)
|
rs1212611161
|
0.00001
|
NM_025114.4(CEP290):c.6882T>C (p.Thr2294=)
|
rs759290213
|
0.00001
|
NM_025114.4(CEP290):c.6941A>G (p.Asn2314Ser)
|
rs148173636
|
0.00001
|
NM_025114.4(CEP290):c.6948C>T (p.Asp2316=)
|
rs768771609
|
0.00001
|
NM_025114.4(CEP290):c.7004A>G (p.Gln2335Arg)
|
rs1424407266
|
0.00001
|
NM_025114.4(CEP290):c.7020G>A (p.Glu2340=)
|
rs749716804
|
0.00001
|
NM_025114.4(CEP290):c.7035A>G (p.Arg2345=)
|
rs760964107
|
0.00001
|
NM_025114.4(CEP290):c.7082A>G (p.Gln2361Arg)
|
rs766016762
|
0.00001
|
NM_025114.4(CEP290):c.7104A>G (p.Gln2368=)
|
rs1176691356
|
0.00001
|
NM_025114.4(CEP290):c.7130-16A>G
|
rs1430895394
|
0.00001
|
NM_025114.4(CEP290):c.7131T>C (p.Asp2377=)
|
rs759638203
|
0.00001
|
NM_025114.4(CEP290):c.7155A>G (p.Ile2385Met)
|
rs770168358
|
0.00001
|
NM_025114.4(CEP290):c.7197G>A (p.Lys2399=)
|
rs779550219
|
0.00001
|
NM_025114.4(CEP290):c.722A>G (p.Lys241Arg)
|
rs199790246
|
0.00001
|
NM_025114.4(CEP290):c.726T>A (p.Asn242Lys)
|
rs949161264
|
0.00001
|
NM_025114.4(CEP290):c.726T>C (p.Asn242=)
|
rs949161264
|
0.00001
|
NM_025114.4(CEP290):c.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.(88490777_88496614)_(88500876_88502842)del
|
|
|
NC_000012.11:g.(88519147_88520092)_(88530564_88532921)del
|
|
|
NC_000012.11:g.(?_88447419)_(88448200_?)del
|
|
|
NC_000012.11:g.(?_88447419)_(88448200_?)dup
|
|
|
NC_000012.11:g.(?_88452605)_(88454791_?)dup
|
|
|
NC_000012.11:g.(?_88452605)_(88494960_?)del
|
|
|
NC_000012.11:g.(?_88452605)_(88525015_?)del
|
|
|
NC_000012.11:g.(?_88452615)_(88453807_?)del
|
|
|
NC_000012.11:g.(?_88465051)_(88465723_?)del
|
|
|
NC_000012.11:g.(?_88465051)_(88496808_?)del
|
|
|
NC_000012.11:g.(?_88465051)_(88508979_?)dup
|
|
|
NC_000012.11:g.(?_88470989)_(88473016_?)del
|
|
|
NC_000012.11:g.(?_88471559)_(88471893_?)del
|
|
|
NC_000012.11:g.(?_88472849)_(88535092_?)del
|
|
|
NC_000012.11:g.(?_88479796)_(88514963_?)del
|
|
|
NC_000012.11:g.(?_88481537)_(88523673_?)del
|
|
|
NC_000012.11:g.(?_88484485)_(88487772_?)del
|
|
|
NC_000012.11:g.(?_88494960)_(88512540_?)dup
|
|
|
NC_000012.11:g.(?_88502823)_(88525015_?)del
|
|
|
NC_000012.11:g.(?_88510800)_(88510932_?)del
|
|
|
NC_000012.11:g.(?_88512250)_(88519156_?)del
|
|
|
NC_000012.11:g.(?_88517531)_(88519028_?)del
|
|
|
NC_000012.11:g.(?_88532902)_(88533361_?)del
|
|
|
NM_025114.3(CEP290):c.6819-?_*171+?dup
|
|
|
NM_025114.4(CEP290):c.-118C>G
|
rs886049887
|
|
NM_025114.4(CEP290):c.-208C>T
|
rs551070690
|
|
NM_025114.4(CEP290):c.-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.143_144del (p.Val48fs)
|
|
|
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>A
|
rs377529198
|
|
NM_025114.4(CEP290):c.1623+10G>T
|
rs377529198
|
|
NM_025114.4(CEP290):c.1623+10_1623+11dup
|
|
|
NM_025114.4(CEP290):c.1623+18T>C
|
|
|
NM_025114.4(CEP290):c.1623+1G>A
|
rs863225186
|
|
NM_025114.4(CEP290):c.1623+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.1747A>G (p.Ile583Val)
|
rs1459958084
|
|
NM_025114.4(CEP290):c.174A>G (p.Leu58=)
|
rs1257171303
|
|
NM_025114.4(CEP290):c.174A>T (p.Leu58=)
|
|
|
NM_025114.4(CEP290):c.1750del (p.Ser584fs)
|
rs780954447
|
|
NM_025114.4(CEP290):c.1753C>T (p.Gln585Ter)
|
rs867094910
|
|
NM_025114.4(CEP290):c.1757G>A (p.Gly586Glu)
|
|
|
NM_025114.4(CEP290):c.1758A>G (p.Gly586=)
|
|
|
NM_025114.4(CEP290):c.1761T>C (p.Asp587=)
|
|
|
NM_025114.4(CEP290):c.1767A>G (p.Ile589Met)
|
|
|
NM_025114.4(CEP290):c.1769G>C (p.Ser590Thr)
|
|
|
NM_025114.4(CEP290):c.1781T>C (p.Leu594Ser)
|
rs371496675
|
|
NM_025114.4(CEP290):c.1782G>T (p.Leu594Phe)
|
rs1283118657
|
|
NM_025114.4(CEP290):c.1788A>G (p.Leu596=)
|
rs1223585284
|
|
NM_025114.4(CEP290):c.1789T>C (p.Leu597=)
|
rs2039096949
|
|
NM_025114.4(CEP290):c.1790T>A (p.Leu597Ter)
|
|
|
NM_025114.4(CEP290):c.1790_1805del (p.Leu596_Leu597insTer)
|
|
|
NM_025114.4(CEP290):c.1791G>A (p.Leu597=)
|
rs1346086093
|
|
NM_025114.4(CEP290):c.1797C>A (p.Leu599=)
|
rs2137836275
|
|
NM_025114.4(CEP290):c.1797C>G (p.Leu599=)
|
|
|
NM_025114.4(CEP290):c.1798A>T (p.Lys600Ter)
|
rs2137836218
|
|
NM_025114.4(CEP290):c.180+10_180+11dup
|
|
|
NM_025114.4(CEP290):c.180+11A>G
|
rs2138296866
|
|
NM_025114.4(CEP290):c.180+12G>T
|
|
|
NM_025114.4(CEP290):c.180+13T>C
|
|
|
NM_025114.4(CEP290):c.180+14A>T
|
|
|
NM_025114.4(CEP290):c.180+15G>T
|
|
|
NM_025114.4(CEP290):c.180+18T>G
|
|
|
NM_025114.4(CEP290):c.180+1G>A
|
rs758593134
|
|
NM_025114.4(CEP290):c.180+2T>A
|
rs386834150
|
|
NM_025114.4(CEP290):c.180+8T>C
|
rs750648438
|
|
NM_025114.4(CEP290):c.1801A>G (p.Asn601Asp)
|
|
|
NM_025114.4(CEP290):c.1802del (p.Asn601fs)
|
|
|
NM_025114.4(CEP290):c.1805del (p.Met602fs)
|
|
|
NM_025114.4(CEP290):c.180G>A (p.Lys60=)
|
|
|
NM_025114.4(CEP290):c.181-10T>A
|
|
|
NM_025114.4(CEP290):c.181-10del
|
rs1302625844
|
|
NM_025114.4(CEP290):c.181-10dup
|
|
|
NM_025114.4(CEP290):c.181-17C>A
|
|
|
NM_025114.4(CEP290):c.181-17C>G
|
|
|
NM_025114.4(CEP290):c.181-18C>T
|
|
|
NM_025114.4(CEP290):c.181-4T>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.2869G>A (p.Val957Ile)
|
rs2038007630
|
|
NM_025114.4(CEP290):c.2874T>G (p.Ser958=)
|
|
|
NM_025114.4(CEP290):c.2884C>A (p.Leu962Ile)
|
|
|
NM_025114.4(CEP290):c.2887G>T (p.Glu963Ter)
|
rs1180594304
|
|
NM_025114.4(CEP290):c.2890C>T (p.Leu964=)
|
rs1237834262
|
|
NM_025114.4(CEP290):c.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.3085G>T (p.Glu1029Ter)
|
rs2137423759
|
|
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.3152A>T (p.Asp1051Val)
|
rs2037238288
|
|
NM_025114.4(CEP290):c.3153C>T (p.Asp1051=)
|
rs2037238077
|
|
NM_025114.4(CEP290):c.3156T>A (p.Ile1052=)
|
rs779569679
|
|
NM_025114.4(CEP290):c.315A>G (p.Ala105=)
|
|
|
NM_025114.4(CEP290):c.3161C>T (p.Ser1054Phe)
|
|
|
NM_025114.4(CEP290):c.3162_3167del (p.Ile1055_Ser1056del)
|
rs760503950
|
|
NM_025114.4(CEP290):c.3175A>C (p.Ile1059Leu)
|
|
|
NM_025114.4(CEP290):c.3175A>G (p.Ile1059Val)
|
rs771815959
|
|
NM_025114.4(CEP290):c.3175del (p.Lys1058_Ile1059insTer)
|
rs62640570
|
|
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs)
|
rs62640570
|
|
NM_025114.4(CEP290):c.3176del (p.Ile1059fs)
|
rs863225184
|
|
NM_025114.4(CEP290):c.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+2_3309+3dup
|
rs886049881
|
|
NM_025114.4(CEP290):c.3309+8A>T
|
rs2137362040
|
|
NM_025114.4(CEP290):c.3309G>A (p.Glu1103=)
|
|
|
NM_025114.4(CEP290):c.3310-13T>A
|
|
|
NM_025114.4(CEP290):c.3310-1_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.3446_3447del (p.Lys1149fs)
|
rs386834155
|
|
NM_025114.4(CEP290):c.3448G>A (p.Val1150Ile)
|
rs2137340972
|
|
NM_025114.4(CEP290):c.3449T>C (p.Val1150Ala)
|
rs2037141100
|
|
NM_025114.4(CEP290):c.3451G>T (p.Glu1151Ter)
|
|
|
NM_025114.4(CEP290):c.345T>A (p.Asn115Lys)
|
|
|
NM_025114.4(CEP290):c.3460A>G (p.Lys1154Glu)
|
rs753136596
|
|
NM_025114.4(CEP290):c.3461+10T>A
|
|
|
NM_025114.4(CEP290):c.3461+14A>T
|
rs1469392631
|
|
NM_025114.4(CEP290):c.3461+15G>A
|
rs2137340039
|
|
NM_025114.4(CEP290):c.3461+17A>G
|
|
|
NM_025114.4(CEP290):c.3461+1G>A
|
rs766952056
|
|
NM_025114.4(CEP290):c.3461+7G>T
|
rs1565852636
|
|
NM_025114.4(CEP290):c.3461+8C>T
|
rs1370236429
|
|
NM_025114.4(CEP290):c.3461+9A>G
|
|
|
NM_025114.4(CEP290):c.3461A>C (p.Lys1154Thr)
|
rs1050202680
|
|
NM_025114.4(CEP290):c.3462-10C>A
|
rs2137305901
|
|
NM_025114.4(CEP290):c.3462-12A>T
|
|
|
NM_025114.4(CEP290):c.3462-16C>T
|
|
|
NM_025114.4(CEP290):c.3462-18T>C
|
|
|
NM_025114.4(CEP290):c.3462-19del
|
|
|
NM_025114.4(CEP290):c.3462-5C>T
|
rs2036980891
|
|
NM_025114.4(CEP290):c.3477T>C (p.Ser1159=)
|
rs2137305444
|
|
NM_025114.4(CEP290):c.3481A>T (p.Ile1161Phe)
|
rs2036979298
|
|
NM_025114.4(CEP290):c.3482T>C (p.Ile1161Thr)
|
|
|
NM_025114.4(CEP290):c.3486C>G (p.Ala1162=)
|
rs376583223
|
|
NM_025114.4(CEP290):c.3488_3494dup (p.Val1166fs)
|
rs2036977719
|
|
NM_025114.4(CEP290):c.348A>G (p.Glu116=)
|
|
|
NM_025114.4(CEP290):c.3493C>T (p.Gln1165Ter)
|
rs2036977924
|
|
NM_025114.4(CEP290):c.3495A>G (p.Gln1165=)
|
|
|
NM_025114.4(CEP290):c.3497T>G (p.Val1166Gly)
|
|
|
NM_025114.4(CEP290):c.3499G>C (p.Glu1167Gln)
|
|
|
NM_025114.4(CEP290):c.3512C>G (p.Ala1171Gly)
|
rs1183095802
|
|
NM_025114.4(CEP290):c.3513A>G (p.Ala1171=)
|
|
|
NM_025114.4(CEP290):c.3514C>T (p.Gln1172Ter)
|
rs2036975289
|
|
NM_025114.4(CEP290):c.3514CAA[2] (p.Gln1174del)
|
rs749010290
|
|
NM_025114.4(CEP290):c.3517C>A (p.Gln1173Lys)
|
|
|
NM_025114.4(CEP290):c.3518A>C (p.Gln1173Pro)
|
rs2137303851
|
|
NM_025114.4(CEP290):c.351T>C (p.Ile117=)
|
|
|
NM_025114.4(CEP290):c.3520C>T (p.Gln1174Ter)
|
rs2036974151
|
|
NM_025114.4(CEP290):c.3528G>A (p.Arg1176=)
|
|
|
NM_025114.4(CEP290):c.3533A>G (p.Lys1178Arg)
|
rs2137303115
|
|
NM_025114.4(CEP290):c.3533del (p.Lys1178fs)
|
rs2036971853
|
|
NM_025114.4(CEP290):c.3534G>A (p.Lys1178=)
|
rs756488924
|
|
NM_025114.4(CEP290):c.3537A>G (p.Glu1179=)
|
|
|
NM_025114.4(CEP290):c.3539T>C (p.Val1180Ala)
|
|
|
NM_025114.4(CEP290):c.3540A>G (p.Val1180=)
|
|
|
NM_025114.4(CEP290):c.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.3574-9T>A
|
rs202038547
|
|
NM_025114.4(CEP290):c.3574-9del
|
rs10717563
|
|
NM_025114.4(CEP290):c.3577C>T (p.Gln1193Ter)
|
|
|
NM_025114.4(CEP290):c.3581C>T (p.Ser1194Phe)
|
rs2036852568
|
|
NM_025114.4(CEP290):c.3591G>A (p.Lys1197=)
|
|
|
NM_025114.4(CEP290):c.3593C>A (p.Ser1198Ter)
|
rs372640024
|
|
NM_025114.4(CEP290):c.3603C>T (p.Ala1201=)
|
|
|
NM_025114.4(CEP290):c.3605A>G (p.Lys1202Arg)
|
rs375065584
|
|
NM_025114.4(CEP290):c.3605A>T (p.Lys1202Met)
|
rs375065584
|
|
NM_025114.4(CEP290):c.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.3762G>C (p.Leu1254Phe)
|
rs2036834615
|
|
NM_025114.4(CEP290):c.376C>A (p.Gln126Lys)
|
|
|
NM_025114.4(CEP290):c.3777_3778del (p.Arg1259fs)
|
rs765483163
|
|
NM_025114.4(CEP290):c.377A>T (p.Gln126Leu)
|
rs748429036
|
|
NM_025114.4(CEP290):c.3780A>G (p.Ala1260=)
|
|
|
NM_025114.4(CEP290):c.3783del (p.Lys1261fs)
|
rs2036833257
|
|
NM_025114.4(CEP290):c.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.381_382delinsT (p.Lys127fs)
|
rs386834156
|
|
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.4243G>T (p.Glu1415Ter)
|
rs797044604
|
|
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>A (p.Glu1572Lys)
|
rs1292516576
|
|
NM_025114.4(CEP290):c.4714G>T (p.Glu1572Ter)
|
rs1292516576
|
|
NM_025114.4(CEP290):c.4714_4715del (p.Glu1572fs)
|
|
|
NM_025114.4(CEP290):c.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.4792_4795del (p.Lys1598fs)
|
rs1592833648
|
|
NM_025114.4(CEP290):c.4794A>G (p.Lys1598=)
|
rs760100036
|
|
NM_025114.4(CEP290):c.4795T>C (p.Phe1599Leu)
|
|
|
NM_025114.4(CEP290):c.4798A>T (p.Lys1600Ter)
|
|
|
NM_025114.4(CEP290):c.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.4860_4866delinsA (p.Phe1620_Arg1622delinsLeu)
|
|
|
NM_025114.4(CEP290):c.4860del (p.Phe1620fs)
|
rs2137155245
|
|
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.5023A>G (p.Asn1675Asp)
|
rs886049880
|
|
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.5099A>G (p.Glu1700Gly)
|
rs886049879
|
|
NM_025114.4(CEP290):c.5100G>A (p.Glu1700=)
|
rs2137104806
|
|
NM_025114.4(CEP290):c.5101T>C (p.Ser1701Pro)
|
|
|
NM_025114.4(CEP290):c.5103A>G (p.Ser1701=)
|
rs2137104709
|
|
NM_025114.4(CEP290):c.5104_5105del (p.Gln1702fs)
|
rs766259648
|
|
NM_025114.4(CEP290):c.5109T>C (p.Cys1703=)
|
|
|
NM_025114.4(CEP290):c.5121A>G (p.Glu1707=)
|
rs2137104323
|
|
NM_025114.4(CEP290):c.5127_5143del (p.Ala1710fs)
|
rs2137103699
|
|
NM_025114.4(CEP290):c.5130T>C (p.Ala1710=)
|
|
|
NM_025114.4(CEP290):c.5130del (p.Gln1711fs)
|
|
|
NM_025114.4(CEP290):c.5134A>G (p.Lys1712Glu)
|
rs1241267572
|
|
NM_025114.4(CEP290):c.5136_5139del (p.Glu1713fs)
|
rs995093343
|
|
NM_025114.4(CEP290):c.5137G>T (p.Glu1713Ter)
|
|
|
NM_025114.4(CEP290):c.5143A>G (p.Asn1715Asp)
|
rs1565827241
|
|
NM_025114.4(CEP290):c.5145T>G (p.Asn1715Lys)
|
rs568619750
|
|
NM_025114.4(CEP290):c.5147C>A (p.Ser1716Ter)
|
|
|
NM_025114.4(CEP290):c.5157A>G (p.Pro1719=)
|
rs1215659876
|
|
NM_025114.4(CEP290):c.5158A>G (p.Thr1720Ala)
|
rs1555205391
|
|
NM_025114.4(CEP290):c.5159C>G (p.Thr1720Arg)
|
|
|
NM_025114.4(CEP290):c.516+10T>G
|
rs2138101103
|
|
NM_025114.4(CEP290):c.516+12A>C
|
|
|
NM_025114.4(CEP290):c.516+13G>A
|
|
|
NM_025114.4(CEP290):c.516+15G>A
|
|
|
NM_025114.4(CEP290):c.516+19T>A
|
|
|
NM_025114.4(CEP290):c.516+1G>A
|
|
|
NM_025114.4(CEP290):c.516+9T>C
|
rs771222198
|
|
NM_025114.4(CEP290):c.5166A>G (p.Thr1722=)
|
rs970862392
|
|
NM_025114.4(CEP290):c.517-18G>T
|
|
|
NM_025114.4(CEP290):c.517-5T>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)
|
|
|
NM_025114.4(CEP290):c.5529T>A (p.Ile1843=)
|
|
|
NM_025114.4(CEP290):c.552G>A (p.Gln184=)
|
|
|
NM_025114.4(CEP290):c.5535A>G (p.Gln1845=)
|
|
|
NM_025114.4(CEP290):c.5538G>A (p.Glu1846=)
|
|
|
NM_025114.4(CEP290):c.5549T>C (p.Leu1850Pro)
|
rs1176131735
|
|
NM_025114.4(CEP290):c.5557C>T (p.Gln1853Ter)
|
|
|
NM_025114.4(CEP290):c.5559A>G (p.Gln1853=)
|
rs2035884341
|
|
NM_025114.4(CEP290):c.555A>G (p.Lys185=)
|
rs2138097181
|
|
NM_025114.4(CEP290):c.5564_5566del (p.Lys1855del)
|
|
|
NM_025114.4(CEP290):c.5573C>T (p.Thr1858Ile)
|
|
|
NM_025114.4(CEP290):c.5574C>G (p.Thr1858=)
|
|
|
NM_025114.4(CEP290):c.5574C>T (p.Thr1858=)
|
rs775652694
|
|
NM_025114.4(CEP290):c.5576G>A (p.Ser1859Asn)
|
rs2137056432
|
|
NM_025114.4(CEP290):c.5577_5579del (p.Ser1859_Gly1860delinsArg)
|
rs2035881706
|
|
NM_025114.4(CEP290):c.5580del (p.Leu1861fs)
|
rs1592807018
|
|
NM_025114.4(CEP290):c.5581T>C (p.Leu1861=)
|
|
|
NM_025114.4(CEP290):c.5582T>A (p.Leu1861Ter)
|
rs2137056192
|
|
NM_025114.4(CEP290):c.5583A>C (p.Leu1861Phe)
|
|
|
NM_025114.4(CEP290):c.5584C>T (p.Gln1862Ter)
|
|
|
NM_025114.4(CEP290):c.5586+12T>C
|
|
|
NM_025114.4(CEP290):c.5586+14T>G
|
|
|
NM_025114.4(CEP290):c.5586+17C>T
|
rs2137055900
|
|
NM_025114.4(CEP290):c.5586+19C>T
|
|
|
NM_025114.4(CEP290):c.5586+1G>C
|
rs2035880971
|
|
NM_025114.4(CEP290):c.5586+1G>T
|
rs2035880971
|
|
NM_025114.4(CEP290):c.5586+8_5586+9insGATTACAGGTAATTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
|
|
|
NM_025114.4(CEP290):c.5587-10T>A
|
rs1592805772
|
|
NM_025114.4(CEP290):c.5587-12T>G
|
|
|
NM_025114.4(CEP290):c.5587-14_5588del
|
|
|
NM_025114.4(CEP290):c.5587-15C>T
|
|
|
NM_025114.4(CEP290):c.5587-16dup
|
|
|
NM_025114.4(CEP290):c.5587-19G>A
|
|
|
NM_025114.4(CEP290):c.5587-7T>A
|
|
|
NM_025114.4(CEP290):c.5587-8T>C
|
rs886049878
|
|
NM_025114.4(CEP290):c.5587-9A>C
|
rs2035856064
|
|
NM_025114.4(CEP290):c.558_561del (p.Asp188fs)
|
|
|
NM_025114.4(CEP290):c.5596del (p.Pro1865_Leu1866insTer)
|
|
|
NM_025114.4(CEP290):c.5599A>G (p.Thr1867Ala)
|
|
|
NM_025114.4(CEP290):c.5605A>C (p.Asn1869His)
|
|
|
NM_025114.4(CEP290):c.5607T>C (p.Asn1869=)
|
rs777353443
|
|
NM_025114.4(CEP290):c.560T>C (p.Ile187Thr)
|
|
|
NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs)
|
rs727503853
|
|
NM_025114.4(CEP290):c.5614del (p.Ser1872fs)
|
|
|
NM_025114.4(CEP290):c.5619A>G (p.Leu1873=)
|
rs2035852547
|
|
NM_025114.4(CEP290):c.5625A>G (p.Glu1875=)
|
rs754796813
|
|
NM_025114.4(CEP290):c.5631C>T (p.Leu1877=)
|
rs2137050526
|
|
NM_025114.4(CEP290):c.5632C>T (p.Gln1878Ter)
|
rs2137050478
|
|
NM_025114.4(CEP290):c.5634A>G (p.Gln1878=)
|
|
|
NM_025114.4(CEP290):c.5648A>C (p.Lys1883Thr)
|
|
|
NM_025114.4(CEP290):c.5649A>G (p.Lys1883=)
|
rs2137050153
|
|
NM_025114.4(CEP290):c.5649dup (p.Leu1884fs)
|
rs281865188
|
|
NM_025114.4(CEP290):c.5658C>T (p.Asn1886=)
|
|
|
NM_025114.4(CEP290):c.5659C>A (p.Gln1887Lys)
|
|
|
NM_025114.4(CEP290):c.5676G>A (p.Val1892=)
|
rs2137049568
|
|
NM_025114.4(CEP290):c.567A>G (p.Ser189=)
|
|
|
NM_025114.4(CEP290):c.5682A>G (p.Glu1894=)
|
|
|
NM_025114.4(CEP290):c.5684T>C (p.Val1895Ala)
|
|
|
NM_025114.4(CEP290):c.5689C>T (p.Leu1897=)
|
rs2137049271
|
|
NM_025114.4(CEP290):c.5691A>G (p.Leu1897=)
|
|
|
NM_025114.4(CEP290):c.5698A>G (p.Met1900Val)
|
rs1415835597
|
|
NM_025114.4(CEP290):c.569A>G (p.Gln190Arg)
|
rs2039990572
|
|
NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter)
|
rs267606719
|
|
NM_025114.4(CEP290):c.5709+12A>T
|
|
|
NM_025114.4(CEP290):c.5709+14C>A
|
|
|
NM_025114.4(CEP290):c.5709+17A>C
|
|
|
NM_025114.4(CEP290):c.5709+1G>A
|
rs759850328
|
|
NM_025114.4(CEP290):c.5709+2T>G
|
|
|
NM_025114.4(CEP290):c.5709+7G>A
|
|
|
NM_025114.4(CEP290):c.5710-13G>A
|
|
|
NM_025114.4(CEP290):c.5710-18C>G
|
|
|
NM_025114.4(CEP290):c.5710-7_5710-5del
|
|
|
NM_025114.4(CEP290):c.5710-9T>C
|
|
|
NM_025114.4(CEP290):c.5714del (p.Ala1905fs)
|
rs2136966486
|
|
NM_025114.4(CEP290):c.5715T>C (p.Ala1905=)
|
|
|
NM_025114.4(CEP290):c.5728_5731del (p.Ile1910fs)
|
rs754728136
|
|
NM_025114.4(CEP290):c.5733G>T (p.Arg1911Ser)
|
rs1565813077
|
|
NM_025114.4(CEP290):c.5739A>G (p.Glu1913=)
|
|
|
NM_025114.4(CEP290):c.5745T>C (p.Gly1915=)
|
rs2035404611
|
|
NM_025114.4(CEP290):c.574_577del (p.Glu192fs)
|
|
|
NM_025114.4(CEP290):c.5750del (p.Lys1917fs)
|
|
|
NM_025114.4(CEP290):c.5754G>A (p.Trp1918Ter)
|
|
|
NM_025114.4(CEP290):c.5757A>G (p.Gln1919=)
|
|
|
NM_025114.4(CEP290):c.5766A>T (p.Ile1922=)
|
rs1027531979
|
|
NM_025114.4(CEP290):c.5766_5769del (p.Ile1922fs)
|
|
|
NM_025114.4(CEP290):c.5775T>C (p.Ile1925=)
|
|
|
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter)
|
rs561598805
|
|
NM_025114.4(CEP290):c.5777G>A (p.Arg1926Gln)
|
rs778030031
|
|
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro)
|
rs778030031
|
|
NM_025114.4(CEP290):c.5783del (p.Lys1928fs)
|
rs2136964738
|
|
NM_025114.4(CEP290):c.5784G>A (p.Lys1928=)
|
rs2136964688
|
|
NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter)
|
rs1592784618
|
|
NM_025114.4(CEP290):c.5788_5792del (p.Lys1930fs)
|
rs2035400071
|
|
NM_025114.4(CEP290):c.5790A>C (p.Lys1930Asn)
|
|
|
NM_025114.4(CEP290):c.5790del (p.Glu1931fs)
|
rs2136964542
|
|
NM_025114.4(CEP290):c.5791_5794del (p.Glu1931fs)
|
rs2136964385
|
|
NM_025114.4(CEP290):c.5796A>G (p.Lys1932=)
|
|
|
NM_025114.4(CEP290):c.5798_5799del (p.Glu1933fs)
|
|
|
NM_025114.4(CEP290):c.5799G>A (p.Glu1933=)
|
rs2136964287
|
|
NM_025114.4(CEP290):c.579_580del (p.Leu194fs)
|
|
|
NM_025114.4(CEP290):c.57C>G (p.Pro19=)
|
|
|
NM_025114.4(CEP290):c.57C>T (p.Pro19=)
|
|
|
NM_025114.4(CEP290):c.5801G>A (p.Gly1934Glu)
|
|
|
NM_025114.4(CEP290):c.5802G>A (p.Gly1934=)
|
|
|
NM_025114.4(CEP290):c.5803G>A (p.Glu1935Lys)
|
|
|
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter)
|
rs886042360
|
|
NM_025114.4(CEP290):c.5805A>G (p.Glu1935=)
|
rs2136964084
|
|
NM_025114.4(CEP290):c.5805A>T (p.Glu1935Asp)
|
rs2136964084
|
|
NM_025114.4(CEP290):c.5805dup (p.Val1936fs)
|
|
|
NM_025114.4(CEP290):c.5810T>C (p.Phe1937Ser)
|
rs2035398253
|
|
NM_025114.4(CEP290):c.5811T>C (p.Phe1937=)
|
|
|
NM_025114.4(CEP290):c.5813C>T (p.Thr1938Ile)
|
rs2035397823
|
|
NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs)
|
rs62638180
|
|
NM_025114.4(CEP290):c.5816dup (p.Leu1939fs)
|
|
|
NM_025114.4(CEP290):c.5823G>A (p.Lys1941=)
|
|
|
NM_025114.4(CEP290):c.5824C>A (p.Gln1942Lys)
|
|
|
NM_025114.4(CEP290):c.5825A>G (p.Gln1942Arg)
|
|
|
NM_025114.4(CEP290):c.5828del (p.Gln1942_Leu1943insTer)
|
|
|
NM_025114.4(CEP290):c.5829G>A (p.Leu1943=)
|
rs1195022621
|
|
NM_025114.4(CEP290):c.5830A>T (p.Asn1944Tyr)
|
rs1014034003
|
|
NM_025114.4(CEP290):c.5838G>A (p.Leu1946=)
|
|
|
NM_025114.4(CEP290):c.583_584del (p.Leu195fs)
|
rs1277316340
|
|
NM_025114.4(CEP290):c.5841G>A (p.Lys1947=)
|
rs2136963237
|
|
NM_025114.4(CEP290):c.5842G>T (p.Asp1948Tyr)
|
rs886049877
|
|
NM_025114.4(CEP290):c.584del (p.Leu195fs)
|
rs1277316340
|
|
NM_025114.4(CEP290):c.5850del (p.Phe1950fs)
|
rs386834159
|
|
NM_025114.4(CEP290):c.5852C>G (p.Ala1951Gly)
|
rs2035394009
|
|
NM_025114.4(CEP290):c.5853C>A (p.Ala1951=)
|
rs2136962808
|
|
NM_025114.4(CEP290):c.5853C>G (p.Ala1951=)
|
rs2136962808
|
|
NM_025114.4(CEP290):c.5853C>T (p.Ala1951=)
|
|
|
NM_025114.4(CEP290):c.5854A>T (p.Lys1952Ter)
|
rs2035393800
|
|
NM_025114.4(CEP290):c.5855+11A>C
|
|
|
NM_025114.4(CEP290):c.5855+11A>G
|
|
|
NM_025114.4(CEP290):c.5855+18T>A
|
|
|
NM_025114.4(CEP290):c.5855+18_5855+20del
|
rs1442503417
|
|
NM_025114.4(CEP290):c.5856-13T>C
|
|
|
NM_025114.4(CEP290):c.5856-14A>G
|
|
|
NM_025114.4(CEP290):c.5856-16A>C
|
|
|
NM_025114.4(CEP290):c.5856-16A>G
|
|
|
NM_025114.4(CEP290):c.5856-16A>T
|
rs372444243
|
|
NM_025114.4(CEP290):c.5856-1_5856delinsTT
|
rs2136958216
|
|
NM_025114.4(CEP290):c.5856-2A>C
|
|
|
NM_025114.4(CEP290):c.585A>G (p.Leu195=)
|
rs2138096227
|
|
NM_025114.4(CEP290):c.5868G>A (p.Glu1956=)
|
|
|
NM_025114.4(CEP290):c.5873T>C (p.Leu1958Pro)
|
rs2136957996
|
|
NM_025114.4(CEP290):c.5873_5874del (p.Leu1958fs)
|
rs2035367210
|
|
NM_025114.4(CEP290):c.587C>G (p.Ser196Ter)
|
|
|
NM_025114.4(CEP290):c.5889A>G (p.Lys1963=)
|
|
|
NM_025114.4(CEP290):c.5892A>G (p.Leu1964=)
|
rs2136957684
|
|
NM_025114.4(CEP290):c.5899A>G (p.Thr1967Ala)
|
|
|
NM_025114.4(CEP290):c.58C>T (p.Arg20Cys)
|
rs779867970
|
|
NM_025114.4(CEP290):c.5901T>C (p.Thr1967=)
|
|
|
NM_025114.4(CEP290):c.5910T>C (p.Thr1970=)
|
rs2136957326
|
|
NM_025114.4(CEP290):c.5911G>C (p.Val1971Leu)
|
rs2035364656
|
|
NM_025114.4(CEP290):c.5925G>A (p.Leu1975=)
|
|
|
NM_025114.4(CEP290):c.5927G>A (p.Gly1976Glu)
|
rs2136956748
|
|
NM_025114.4(CEP290):c.5931_5935del (p.Arg1978fs)
|
rs1555201796
|
|
NM_025114.4(CEP290):c.5932C>G (p.Arg1978Gly)
|
rs371525247
|
|
NM_025114.4(CEP290):c.5943G>A (p.Glu1981=)
|
|
|
NM_025114.4(CEP290):c.5944T>A (p.Ser1982Thr)
|
rs2035360147
|
|
NM_025114.4(CEP290):c.594A>G (p.Arg198=)
|
|
|
NM_025114.4(CEP290):c.5953G>T (p.Glu1985Ter)
|
|
|
NM_025114.4(CEP290):c.5956T>C (p.Leu1986=)
|
|
|
NM_025114.4(CEP290):c.5962G>A (p.Glu1988Lys)
|
|
|
NM_025114.4(CEP290):c.5962G>T (p.Glu1988Ter)
|
rs2035358840
|
|
NM_025114.4(CEP290):c.5967A>T (p.Leu1989Phe)
|
|
|
NM_025114.4(CEP290):c.5969A>G (p.Lys1990Arg)
|
|
|
NM_025114.4(CEP290):c.5970A>G (p.Lys1990=)
|
|
|
NM_025114.4(CEP290):c.5972del (p.Lys1991fs)
|
rs1468269366
|
|
NM_025114.4(CEP290):c.597_648del (p.Glu200fs)
|
rs2039985700
|
|
NM_025114.4(CEP290):c.5986T>G (p.Leu1996Val)
|
|
|
NM_025114.4(CEP290):c.5995G>C (p.Asp1999His)
|
rs2136955385
|
|
NM_025114.4(CEP290):c.5997T>C (p.Asp1999=)
|
|
|
NM_025114.4(CEP290):c.5999T>C (p.Ile2000Thr)
|
rs1592782496
|
|
NM_025114.4(CEP290):c.6001T>C (p.Leu2001=)
|
rs112738303
|
|
NM_025114.4(CEP290):c.6003G>A (p.Leu2001=)
|
rs2035355059
|
|
NM_025114.4(CEP290):c.6011+13G>T
|
|
|
NM_025114.4(CEP290):c.6011+14_6011+15del
|
rs1565811649
|
|
NM_025114.4(CEP290):c.6011+15G>A
|
|
|
NM_025114.4(CEP290):c.6011+2T>G
|
|
|
NM_025114.4(CEP290):c.6011+7dup
|
|
|
NM_025114.4(CEP290):c.6011+8A>G
|
|
|
NM_025114.4(CEP290):c.6012-11G>A
|
|
|
NM_025114.4(CEP290):c.6012-13_6012-12insA
|
|
|
NM_025114.4(CEP290):c.6012-14A>G
|
|
|
NM_025114.4(CEP290):c.6012-18T>C
|
rs2035130236
|
|
NM_025114.4(CEP290):c.6012-4A>C
|
rs760029406
|
|
NM_025114.4(CEP290):c.6012-4A>G
|
|
|
NM_025114.4(CEP290):c.6012-5C>A
|
|
|
NM_025114.4(CEP290):c.6012-9T>C
|
rs2136914044
|
|
NM_025114.4(CEP290):c.6012G>A (p.Arg2004=)
|
rs2136913860
|
|
NM_025114.4(CEP290):c.6030T>A (p.Pro2010=)
|
|
|
NM_025114.4(CEP290):c.6032G>A (p.Arg2011Gln)
|
|
|
NM_025114.4(CEP290):c.6037T>C (p.Ser2013Pro)
|
rs2136913105
|
|
NM_025114.4(CEP290):c.6037T>G (p.Ser2013Ala)
|
rs2136913105
|
|
NM_025114.4(CEP290):c.603C>T (p.Asp201=)
|
|
|
NM_025114.4(CEP290):c.6042T>C (p.Val2014=)
|
rs2035125225
|
|
NM_025114.4(CEP290):c.6043_6053del (p.Val2015fs)
|
rs2035124136
|
|
NM_025114.4(CEP290):c.6045AGA[1] (p.Glu2016del)
|
rs1481875615
|
|
NM_025114.4(CEP290):c.6054A>G (p.Leu2018=)
|
rs2136912612
|
|
NM_025114.4(CEP290):c.6057T>C (p.His2019=)
|
|
|
NM_025114.4(CEP290):c.6060A>G (p.Leu2020=)
|
rs2035122755
|
|
NM_025114.4(CEP290):c.6062A>C (p.Gln2021Pro)
|
|
|
NM_025114.4(CEP290):c.6065A>G (p.Asn2022Ser)
|
rs1283291449
|
|
NM_025114.4(CEP290):c.6067A>C (p.Arg2023=)
|
rs764861728
|
|
NM_025114.4(CEP290):c.6067A>G (p.Arg2023Gly)
|
|
|
NM_025114.4(CEP290):c.6076C>T (p.Gln2026Ter)
|
|
|
NM_025114.4(CEP290):c.6079del (p.Glu2027fs)
|
rs2136911634
|
|
NM_025114.4(CEP290):c.6083A>G (p.Lys2028Arg)
|
|
|
NM_025114.4(CEP290):c.6084A>G (p.Lys2028=)
|
rs2136911467
|
|
NM_025114.4(CEP290):c.6084_6085del (p.Lys2028fs)
|
rs2136911405
|
|
NM_025114.4(CEP290):c.6087T>A (p.Leu2029=)
|
rs1592770859
|
|
NM_025114.4(CEP290):c.6087T>C (p.Leu2029=)
|
|
|
NM_025114.4(CEP290):c.6102A>G (p.Lys2034=)
|
rs752291080
|
|
NM_025114.4(CEP290):c.6103del (p.Gln2035fs)
|
rs2136910908
|
|
NM_025114.4(CEP290):c.6105G>A (p.Gln2035=)
|
rs754426182
|
|
NM_025114.4(CEP290):c.6105G>C (p.Gln2035His)
|
|
|
NM_025114.4(CEP290):c.6120A>T (p.Thr2040=)
|
rs766265410
|
|
NM_025114.4(CEP290):c.6130C>T (p.Pro2044Ser)
|
rs750159998
|
|
NM_025114.4(CEP290):c.6134C>T (p.Ser2045Leu)
|
|
|
NM_025114.4(CEP290):c.6135+10T>C
|
rs371097588
|
|
NM_025114.4(CEP290):c.6135+13C>G
|
|
|
NM_025114.4(CEP290):c.6135+15T>C
|
|
|
NM_025114.4(CEP290):c.6135+19T>C
|
|
|
NM_025114.4(CEP290):c.6135+9A>C
|
|
|
NM_025114.4(CEP290):c.6135+9A>G
|
|
|
NM_025114.4(CEP290):c.6135A>G (p.Ser2045=)
|
rs2035114777
|
|
NM_025114.4(CEP290):c.6136-13C>A
|
|
|
NM_025114.4(CEP290):c.6136-6C>G
|
|
|
NM_025114.4(CEP290):c.6136-8C>T
|
|
|
NM_025114.4(CEP290):c.6136A>G (p.Ile2046Val)
|
|
|
NM_025114.4(CEP290):c.6138T>A (p.Ile2046=)
|
|
|
NM_025114.4(CEP290):c.613C>G (p.Arg205Gly)
|
|
|
NM_025114.4(CEP290):c.6141A>G (p.Ser2047=)
|
rs779553989
|
|
NM_025114.4(CEP290):c.614G>A (p.Arg205Gln)
|
|
|
NM_025114.4(CEP290):c.6154_6161del (p.Asp2052fs)
|
rs867904492
|
|
NM_025114.4(CEP290):c.6156_6159del (p.Asp2053fs)
|
|
|
NM_025114.4(CEP290):c.615A>T (p.Arg205=)
|
|
|
NM_025114.4(CEP290):c.6162T>C (p.His2054=)
|
rs867670449
|
|
NM_025114.4(CEP290):c.6163T>G (p.Cys2055Gly)
|
rs2136814953
|
|
NM_025114.4(CEP290):c.6165T>C (p.Cys2055=)
|
rs2034700190
|
|
NM_025114.4(CEP290):c.6170_6173del (p.Arg2057fs)
|
|
|
NM_025114.4(CEP290):c.6175C>T (p.Gln2059Ter)
|
|
|
NM_025114.4(CEP290):c.6187A>T (p.Lys2063Ter)
|
rs2136814350
|
|
NM_025114.4(CEP290):c.6192A>G (p.Glu2064=)
|
rs1565798798
|
|
NM_025114.4(CEP290):c.6196T>C (p.Leu2066=)
|
rs2136814010
|
|
NM_025114.4(CEP290):c.6200A>G (p.Lys2067Arg)
|
|
|
NM_025114.4(CEP290):c.6204G>A (p.Leu2068=)
|
|
|
NM_025114.4(CEP290):c.6207A>T (p.Ser2069=)
|
rs1327169453
|
|
NM_025114.4(CEP290):c.620A>G (p.Gln207Arg)
|
rs2138095264
|
|
NM_025114.4(CEP290):c.6216T>C (p.Asn2072=)
|
|
|
NM_025114.4(CEP290):c.6218T>C (p.Ile2073Thr)
|
rs2034695558
|
|
NM_025114.4(CEP290):c.621G>A (p.Gln207=)
|
|
|
NM_025114.4(CEP290):c.6223C>G (p.Leu2075Val)
|
|
|
NM_025114.4(CEP290):c.6225G>C (p.Leu2075=)
|
|
|
NM_025114.4(CEP290):c.6228A>T (p.Lys2076Asn)
|
rs2136813251
|
|
NM_025114.4(CEP290):c.6234G>A (p.Gln2078=)
|
|
|
NM_025114.4(CEP290):c.6249_6252del (p.Asn2083fs)
|
|
|
NM_025114.4(CEP290):c.6249dup (p.Lys2084Ter)
|
|
|
NM_025114.4(CEP290):c.6254A>T (p.Asp2085Val)
|
rs774510171
|
|
NM_025114.4(CEP290):c.6258G>A (p.Leu2086=)
|
|
|
NM_025114.4(CEP290):c.6261A>C (p.Pro2087=)
|
|
|
NM_025114.4(CEP290):c.6261A>G (p.Pro2087=)
|
rs2136812192
|
|
NM_025114.4(CEP290):c.6264A>G (p.Arg2088=)
|
rs2136812129
|
|
NM_025114.4(CEP290):c.6269A>G (p.Lys2090Arg)
|
|
|
NM_025114.4(CEP290):c.6270+12G>A
|
|
|
NM_025114.4(CEP290):c.6270+17T>G
|
rs1473886719
|
|
NM_025114.4(CEP290):c.6270+18del
|
rs371141771
|
|
NM_025114.4(CEP290):c.6270+19del
|
|
|
NM_025114.4(CEP290):c.6270+1G>T
|
|
|
NM_025114.4(CEP290):c.6270+2T>C
|
|
|
NM_025114.4(CEP290):c.6270+9A>G
|
rs2136811401
|
|
NM_025114.4(CEP290):c.628A>T (p.Lys210Ter)
|
rs763473957
|
|
NM_025114.4(CEP290):c.6358-11T>C
|
|
|
NM_025114.4(CEP290):c.6358-13T>C
|
rs1355948965
|
|
NM_025114.4(CEP290):c.6358-14A>G
|
|
|
NM_025114.4(CEP290):c.6358-16del
|
|
|
NM_025114.4(CEP290):c.6358-17_6358-10del
|
|
|
NM_025114.4(CEP290):c.6358-18_6358-15del
|
|
|
NM_025114.4(CEP290):c.6358-20T>C
|
|
|
NM_025114.4(CEP290):c.6358-6T>C
|
|
|
NM_025114.4(CEP290):c.6358-7T>C
|
rs1323070560
|
|
NM_025114.4(CEP290):c.635_636insG (p.Asn212fs)
|
|
|
NM_025114.4(CEP290):c.635_636insT (p.Tyr213fs)
|
|
|
NM_025114.4(CEP290):c.635del (p.Asn212fs)
|
|
|
NM_025114.4(CEP290):c.635dup (p.Asn212fs)
|
rs769091629
|
|
NM_025114.4(CEP290):c.6360dup (p.Gly2121fs)
|
|
|
NM_025114.4(CEP290):c.6363T>C (p.Gly2121=)
|
rs2136752914
|
|
NM_025114.4(CEP290):c.6369T>C (p.Ser2123=)
|
rs750473077
|
|
NM_025114.4(CEP290):c.6369T>G (p.Ser2123Arg)
|
|
|
NM_025114.4(CEP290):c.6372A>G (p.Gly2124=)
|
|
|
NM_025114.4(CEP290):c.6377_6378del (p.Thr2126fs)
|
|
|
NM_025114.4(CEP290):c.6384A>G (p.Pro2128=)
|
|
|
NM_025114.4(CEP290):c.6387A>G (p.Glu2129=)
|
|
|
NM_025114.4(CEP290):c.6388C>A (p.Leu2130Met)
|
rs1178627897
|
|
NM_025114.4(CEP290):c.6388C>T (p.Leu2130=)
|
|
|
NM_025114.4(CEP290):c.6398C>A (p.Thr2133Asn)
|
rs775860198
|
|
NM_025114.4(CEP290):c.6417dup (p.Val2140fs)
|
|
|
NM_025114.4(CEP290):c.6418_6419insC (p.Val2140fs)
|
rs2136751258
|
|
NM_025114.4(CEP290):c.6420A>G (p.Val2140=)
|
rs2034432859
|
|
NM_025114.4(CEP290):c.6421G>A (p.Val2141Ile)
|
rs2136751097
|
|
NM_025114.4(CEP290):c.6424dup (p.Glu2142fs)
|
|
|
NM_025114.4(CEP290):c.642G>A (p.Glu214=)
|
rs2138094419
|
|
NM_025114.4(CEP290):c.6432C>A (p.Val2144=)
|
|
|
NM_025114.4(CEP290):c.6433C>G (p.Gln2145Glu)
|
rs747203539
|
|
NM_025114.4(CEP290):c.6435G>T (p.Gln2145His)
|
rs1308226735
|
|
NM_025114.4(CEP290):c.6438A>G (p.Arg2146=)
|
|
|
NM_025114.4(CEP290):c.6439G>T (p.Glu2147Ter)
|
rs1234975160
|
|
NM_025114.4(CEP290):c.6445G>A (p.Glu2149Lys)
|
|
|
NM_025114.4(CEP290):c.6447del (p.Glu2149fs)
|
rs1157238971
|
|
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs)
|
rs1364945778
|
|
NM_025114.4(CEP290):c.6452T>G (p.Leu2151Trp)
|
rs191613017
|
|
NM_025114.4(CEP290):c.6461C>A (p.Ala2154Glu)
|
|
|
NM_025114.4(CEP290):c.6468A>G (p.Gly2156=)
|
|
|
NM_025114.4(CEP290):c.6472T>C (p.Leu2158=)
|
|
|
NM_025114.4(CEP290):c.6474G>A (p.Leu2158=)
|
rs2034427417
|
|
NM_025114.4(CEP290):c.6487dup (p.Met2163fs)
|
rs2136748724
|
|
NM_025114.4(CEP290):c.6489G>A (p.Met2163Ile)
|
rs1017249180
|
|
NM_025114.4(CEP290):c.648C>A (p.Ile216=)
|
rs748527265
|
|
NM_025114.4(CEP290):c.6497T>C (p.Ile2166Thr)
|
|
|
NM_025114.4(CEP290):c.64GAA[1] (p.Glu23del)
|
rs780211907
|
|
NM_025114.4(CEP290):c.6505G>A (p.Glu2169Lys)
|
rs2136748183
|
|
NM_025114.4(CEP290):c.6510T>A (p.Asn2170Lys)
|
|
|
NM_025114.4(CEP290):c.6516del (p.Lys2172fs)
|
rs1057519165
|
|
NM_025114.4(CEP290):c.6516dup (p.Leu2173fs)
|
rs1057519165
|
|
NM_025114.4(CEP290):c.6517T>C (p.Leu2173=)
|
|
|
NM_025114.4(CEP290):c.6522+11_6522+12del
|
|
|
NM_025114.4(CEP290):c.6522+11_6522+12dup
|
|
|
NM_025114.4(CEP290):c.6522+12del
|
|
|
NM_025114.4(CEP290):c.6522+13A>T
|
|
|
NM_025114.4(CEP290):c.6522+13_6522+14insC
|
|
|
NM_025114.4(CEP290):c.6522+14_6522+15insC
|
|
|
NM_025114.4(CEP290):c.6522+16G>A
|
|
|
NM_025114.4(CEP290):c.6522+18G>C
|
|
|
NM_025114.4(CEP290):c.6522+19A>T
|
|
|
NM_025114.4(CEP290):c.6522+5dup
|
rs11405846
|
|
NM_025114.4(CEP290):c.6522+6_6522+7insC
|
|
|
NM_025114.4(CEP290):c.6522+8_6522+9insA
|
|
|
NM_025114.4(CEP290):c.6523-12T>C
|
rs761172645
|
|
NM_025114.4(CEP290):c.6523-12T>G
|
|
|
NM_025114.4(CEP290):c.6523-12dup
|
rs1216267478
|
|
NM_025114.4(CEP290):c.6523-13G>T
|
|
|
NM_025114.4(CEP290):c.6523-13_6523-10del
|
rs779782832
|
|
NM_025114.4(CEP290):c.6523-14T>C
|
|
|
NM_025114.4(CEP290):c.6523-14T>G
|
|
|
NM_025114.4(CEP290):c.6523-17_6523-15del
|
rs751359519
|
|
NM_025114.4(CEP290):c.6523-18T>C
|
|
|
NM_025114.4(CEP290):c.6523-18T>G
|
rs954082831
|
|
NM_025114.4(CEP290):c.6523-22_6523-18del
|
rs2034347330
|
|
NM_025114.4(CEP290):c.6523-6del
|
|
|
NM_025114.4(CEP290):c.6523-8T>C
|
|
|
NM_025114.4(CEP290):c.6523-9T>G
|
|
|
NM_025114.4(CEP290):c.6537del (p.Lys2179fs)
|
rs2136728464
|
|
NM_025114.4(CEP290):c.6538C>T (p.Leu2180Phe)
|
rs1381853150
|
|
NM_025114.4(CEP290):c.653A>G (p.Tyr218Cys)
|
|
|
NM_025114.4(CEP290):c.6541A>G (p.Lys2181Glu)
|
|
|
NM_025114.4(CEP290):c.6548A>C (p.His2183Pro)
|
rs2034340081
|
|
NM_025114.4(CEP290):c.654T>G (p.Tyr218Ter)
|
rs863225185
|
|
NM_025114.4(CEP290):c.6553G>C (p.Gly2185Arg)
|
|
|
NM_025114.4(CEP290):c.6561G>A (p.Gln2187=)
|
rs2136727209
|
|
NM_025114.4(CEP290):c.6566G>T (p.Ser2189Ile)
|
rs2034338160
|
|
NM_025114.4(CEP290):c.6570G>A (p.Met2190Ile)
|
rs1480802620
|
|
NM_025114.4(CEP290):c.6572A>G (p.His2191Arg)
|
rs368428115
|
|
NM_025114.4(CEP290):c.6579A>G (p.Glu2193=)
|
|
|
NM_025114.4(CEP290):c.6582C>T (p.Ser2194=)
|
rs1592739990
|
|
NM_025114.4(CEP290):c.6585G>A (p.Lys2195=)
|
|
|
NM_025114.4(CEP290):c.6588C>T (p.Thr2196=)
|
|
|
NM_025114.4(CEP290):c.6592G>T (p.Gly2198Cys)
|
|
|
NM_025114.4(CEP290):c.6595A>T (p.Thr2199Ser)
|
|
|
NM_025114.4(CEP290):c.6600A>G (p.Glu2200=)
|
rs2136725980
|
|
NM_025114.4(CEP290):c.6604del (p.Ile2202fs)
|
rs758329611
|
|
NM_025114.4(CEP290):c.6606T>A (p.Ile2202=)
|
|
|
NM_025114.4(CEP290):c.6606T>C (p.Ile2202=)
|
|
|
NM_025114.4(CEP290):c.661G>T (p.Glu221Ter)
|
rs2138093974
|
|
NM_025114.4(CEP290):c.6624G>A (p.Arg2208=)
|
|
|
NM_025114.4(CEP290):c.6624del (p.Arg2208fs)
|
rs2136725569
|
|
NM_025114.4(CEP290):c.6634G>A (p.Glu2212Lys)
|
rs2034330893
|
|
NM_025114.4(CEP290):c.6634G>T (p.Glu2212Ter)
|
rs2034330893
|
|
NM_025114.4(CEP290):c.6640A>T (p.Lys2214Ter)
|
|
|
NM_025114.4(CEP290):c.6644A>T (p.Lys2215Ile)
|
|
|
NM_025114.4(CEP290):c.6645+4T>A
|
|
|
NM_025114.4(CEP290):c.6645+7C>T
|
rs762527255
|
|
NM_025114.4(CEP290):c.6645del (p.Glu2216fs)
|
rs2136724878
|
|
NM_025114.4(CEP290):c.6646-10T>C
|
rs2136707145
|
|
NM_025114.4(CEP290):c.6646-16del
|
|
|
NM_025114.4(CEP290):c.6646-17T>C
|
|
|
NM_025114.4(CEP290):c.6646-4A>G
|
|
|
NM_025114.4(CEP290):c.6646-9T>C
|
|
|
NM_025114.4(CEP290):c.6649A>G (p.Thr2217Ala)
|
|
|
NM_025114.4(CEP290):c.664del (p.Ile222fs)
|
rs2138093868
|
|
NM_025114.4(CEP290):c.6653A>G (p.Asp2218Gly)
|
rs2136706903
|
|
NM_025114.4(CEP290):c.6661G>T (p.Glu2221Ter)
|
|
|
NM_025114.4(CEP290):c.6662A>C (p.Glu2221Ala)
|
|
|
NM_025114.4(CEP290):c.6670C>T (p.Arg2224Trp)
|
|
|
NM_025114.4(CEP290):c.6672G>A (p.Arg2224=)
|
|
|
NM_025114.4(CEP290):c.667C>G (p.Gln223Glu)
|
rs2138093804
|
|
NM_025114.4(CEP290):c.6684T>G (p.Asn2228Lys)
|
|
|
NM_025114.4(CEP290):c.6686A>G (p.Asn2229Ser)
|
rs2034240934
|
|
NM_025114.4(CEP290):c.669+15A>G
|
|
|
NM_025114.4(CEP290):c.669+16G>A
|
rs1408808578
|
|
NM_025114.4(CEP290):c.669+20A>T
|
|
|
NM_025114.4(CEP290):c.669+6del
|
rs761225874
|
|
NM_025114.4(CEP290):c.669+6dup
|
rs761225874
|
|
NM_025114.4(CEP290):c.669+8G>A
|
rs768408897
|
|
NM_025114.4(CEP290):c.669+9G>A
|
rs746701712
|
|
NM_025114.4(CEP290):c.669+9G>T
|
rs746701712
|
|
NM_025114.4(CEP290):c.6693G>A (p.Glu2231=)
|
rs2136706174
|
|
NM_025114.4(CEP290):c.6694A>G (p.Ile2232Val)
|
rs2034240720
|
|
NM_025114.4(CEP290):c.670-13T>C
|
|
|
NM_025114.4(CEP290):c.670-13_670-12del
|
rs941686794
|
|
NM_025114.4(CEP290):c.670-3dup
|
|
|
NM_025114.4(CEP290):c.670-7T>G
|
|
|
NM_025114.4(CEP290):c.670-9C>T
|
|
|
NM_025114.4(CEP290):c.6714A>C (p.Thr2238=)
|
rs1293521533
|
|
NM_025114.4(CEP290):c.6721C>T (p.Leu2241=)
|
|
|
NM_025114.4(CEP290):c.6734G>A (p.Gly2245Asp)
|
rs766640788
|
|
NM_025114.4(CEP290):c.673_674del (p.Leu225fs)
|
rs886039805
|
|
NM_025114.4(CEP290):c.6742T>C (p.Leu2248=)
|
|
|
NM_025114.4(CEP290):c.6744G>A (p.Leu2248=)
|
rs2136705270
|
|
NM_025114.4(CEP290):c.6750T>G (p.Phe2250Leu)
|
|
|
NM_025114.4(CEP290):c.6753A>G (p.Ala2251=)
|
rs2136704965
|
|
NM_025114.4(CEP290):c.6756A>G (p.Glu2252=)
|
rs750070359
|
|
NM_025114.4(CEP290):c.6760dup (p.Arg2254fs)
|
rs2034235109
|
|
NM_025114.4(CEP290):c.6764G>A (p.Gly2255Asp)
|
rs377561473
|
|
NM_025114.4(CEP290):c.6769C>T (p.Gln2257Ter)
|
rs2136704614
|
|
NM_025114.4(CEP290):c.6774T>G (p.Leu2258=)
|
rs2034234195
|
|
NM_025114.4(CEP290):c.6776A>C (p.Glu2259Ala)
|
|
|
NM_025114.4(CEP290):c.6777A>G (p.Glu2259=)
|
|
|
NM_025114.4(CEP290):c.6797G>A (p.Trp2266Ter)
|
rs2034232539
|
|
NM_025114.4(CEP290):c.679_680del (p.Glu227fs)
|
rs62640578
|
|
NM_025114.4(CEP290):c.6804C>G (p.Ser2268=)
|
rs775553764
|
|
NM_025114.4(CEP290):c.6805A>G (p.Ile2269Val)
|
|
|
NM_025114.4(CEP290):c.6818+10G>C
|
|
|
NM_025114.4(CEP290):c.6818+20C>T
|
|
|
NM_025114.4(CEP290):c.6818+2T>C
|
|
|
NM_025114.4(CEP290):c.6818_6818+1dup
|
rs1060499781
|
|
NM_025114.4(CEP290):c.6819-10A>C
|
rs150241790
|
|
NM_025114.4(CEP290):c.6819-11T>C
|
rs2136657156
|
|
NM_025114.4(CEP290):c.6819-15del
|
|
|
NM_025114.4(CEP290):c.6819-15dup
|
|
|
NM_025114.4(CEP290):c.6819-5T>A
|
|
|
NM_025114.4(CEP290):c.6819-6T>C
|
rs2136656943
|
|
NM_025114.4(CEP290):c.6819-7C>T
|
|
|
NM_025114.4(CEP290):c.6823T>G (p.Tyr2275Asp)
|
|
|
NM_025114.4(CEP290):c.6824A>T (p.Tyr2275Phe)
|
|
|
NM_025114.4(CEP290):c.6831C>A (p.Thr2277=)
|
|
|
NM_025114.4(CEP290):c.6831C>T (p.Thr2277=)
|
|
|
NM_025114.4(CEP290):c.6836T>A (p.Leu2279Ter)
|
rs2033943937
|
|
NM_025114.4(CEP290):c.6837A>G (p.Leu2279=)
|
rs2136656585
|
|
NM_025114.4(CEP290):c.6838A>T (p.Lys2280Ter)
|
|
|
NM_025114.4(CEP290):c.6841G>A (p.Glu2281Lys)
|
|
|
NM_025114.4(CEP290):c.6841G>T (p.Glu2281Ter)
|
rs2136656497
|
|
NM_025114.4(CEP290):c.6842A>T (p.Glu2281Val)
|
rs2033943524
|
|
NM_025114.4(CEP290):c.6846G>A (p.Leu2282=)
|
|
|
NM_025114.4(CEP290):c.6847G>A (p.Glu2283Lys)
|
rs2136656424
|
|
NM_025114.4(CEP290):c.6869A>G (p.Asn2290Ser)
|
rs2033940025
|
|
NM_025114.4(CEP290):c.6869del (p.Asn2290fs)
|
rs587783017
|
|
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs)
|
rs587783017
|
|
NM_025114.4(CEP290):c.6875G>C (p.Ser2292Thr)
|
|
|
NM_025114.4(CEP290):c.6876C>G (p.Ser2292Arg)
|
rs538590274
|
|
NM_025114.4(CEP290):c.6879T>C (p.Ile2293=)
|
rs1592725976
|
|
NM_025114.4(CEP290):c.687T>C (p.Asn229=)
|
rs2138087198
|
|
NM_025114.4(CEP290):c.6892C>G (p.Gln2298Glu)
|
|
|
NM_025114.4(CEP290):c.6892C>T (p.Gln2298Ter)
|
rs2033937635
|
|
NM_025114.4(CEP290):c.6893A>G (p.Gln2298Arg)
|
rs1337960015
|
|
NM_025114.4(CEP290):c.6895C>T (p.Leu2299Phe)
|
|
|
NM_025114.4(CEP290):c.6916A>T (p.Arg2306Ter)
|
|
|
NM_025114.4(CEP290):c.6917G>A (p.Arg2306Lys)
|
rs1772781673
|
|
NM_025114.4(CEP290):c.6917_6920del (p.Arg2306fs)
|
rs1177923180
|
|
NM_025114.4(CEP290):c.6919G>A (p.Glu2307Lys)
|
|
|
NM_025114.4(CEP290):c.6919_6920del (p.Glu2307fs)
|
rs1177923180
|
|
NM_025114.4(CEP290):c.6919_6920dup (p.Gln2308fs)
|
rs1177923180
|
|
NM_025114.4(CEP290):c.6922C>A (p.Gln2308Lys)
|
|
|
NM_025114.4(CEP290):c.6924A>G (p.Gln2308=)
|
rs2033935023
|
|
NM_025114.4(CEP290):c.6927del (p.Val2310fs)
|
|
|
NM_025114.4(CEP290):c.6929T>A (p.Val2310Asp)
|
|
|
NM_025114.4(CEP290):c.6933C>G (p.Asn2311Lys)
|
|
|
NM_025114.4(CEP290):c.6942T>C (p.Asn2314=)
|
rs2136654318
|
|
NM_025114.4(CEP290):c.694dup (p.Ile232fs)
|
|
|
NM_025114.4(CEP290):c.6951T>A (p.Leu2317=)
|
|
|
NM_025114.4(CEP290):c.6954A>G (p.Glu2318=)
|
rs2136653946
|
|
NM_025114.4(CEP290):c.6959A>T (p.Gln2320Leu)
|
rs780375623
|
|
NM_025114.4(CEP290):c.6960+14T>G
|
|
|
NM_025114.4(CEP290):c.6960+5_6960+8del
|
rs2033930168
|
|
NM_025114.4(CEP290):c.6960+9C>A
|
|
|
NM_025114.4(CEP290):c.6960+9_6960+13del
|
|
|
NM_025114.4(CEP290):c.6961-10G>A
|
|
|
NM_025114.4(CEP290):c.6961-12T>C
|
|
|
NM_025114.4(CEP290):c.6961-18T>C
|
|
|
NM_025114.4(CEP290):c.6961-1G>T
|
rs2136637204
|
|
NM_025114.4(CEP290):c.6961-3_6965del
|
|
|
NM_025114.4(CEP290):c.6961-5dup
|
rs2033832669
|
|
NM_025114.4(CEP290):c.6961-6T>C
|
rs768947002
|
|
NM_025114.4(CEP290):c.6969T>A (p.Ile2323=)
|
rs2136637133
|
|
NM_025114.4(CEP290):c.6970C>T (p.Leu2324Phe)
|
rs1261405954
|
|
NM_025114.4(CEP290):c.6972T>C (p.Leu2324=)
|
|
|
NM_025114.4(CEP290):c.6976C>A (p.His2326Asn)
|
rs2136637071
|
|
NM_025114.4(CEP290):c.6977A>G (p.His2326Arg)
|
|
|
NM_025114.4(CEP290):c.6978T>C (p.His2326=)
|
rs775641877
|
|
NM_025114.4(CEP290):c.6981T>C (p.Val2327=)
|
|
|
NM_025114.4(CEP290):c.6987A>G (p.Glu2329=)
|
rs2136636831
|
|
NM_025114.4(CEP290):c.698A>G (p.Glu233Gly)
|
rs2138087140
|
|
NM_025114.4(CEP290):c.6991G>T (p.Ala2331Ser)
|
|
|
NM_025114.4(CEP290):c.6992del (p.Ala2331fs)
|
|
|
NM_025114.4(CEP290):c.6993T>A (p.Ala2331=)
|
rs2136636592
|
|
NM_025114.4(CEP290):c.6994G>T (p.Glu2332Ter)
|
rs1414041522
|
|
NM_025114.4(CEP290):c.6999A>C (p.Thr2333=)
|
|
|
NM_025114.4(CEP290):c.6A>C (p.Pro2=)
|
|
|
NM_025114.4(CEP290):c.7003dup (p.Gln2335fs)
|
|
|
NM_025114.4(CEP290):c.7005A>G (p.Gln2335=)
|
rs1592722143
|
|
NM_025114.4(CEP290):c.7007G>A (p.Gly2336Asp)
|
rs863224794
|
|
NM_025114.4(CEP290):c.7008C>T (p.Gly2336=)
|
rs2136636238
|
|
NM_025114.4(CEP290):c.7015del (p.Arg2339fs)
|
|
|
NM_025114.4(CEP290):c.7016G>T (p.Arg2339Leu)
|
|
|
NM_025114.4(CEP290):c.7027del (p.Val2343fs)
|
rs2033827549
|
|
NM_025114.4(CEP290):c.7031_7034+7delinsAT
|
|
|
NM_025114.4(CEP290):c.7034+13_7034+15del
|
|
|
NM_025114.4(CEP290):c.7034+19T>A
|
|
|
NM_025114.4(CEP290):c.7034+19T>C
|
|
|
NM_025114.4(CEP290):c.7034+8A>C
|
rs1209334887
|
|
NM_025114.4(CEP290):c.7034+8A>G
|
|
|
NM_025114.4(CEP290):c.7035-11T>C
|
|
|
NM_025114.4(CEP290):c.7035-12A>G
|
|
|
NM_025114.4(CEP290):c.7035-14T>C
|
|
|
NM_025114.4(CEP290):c.7035-15A>G
|
|
|
NM_025114.4(CEP290):c.7035-18A>G
|
|
|
NM_025114.4(CEP290):c.7035-19C>T
|
|
|
NM_025114.4(CEP290):c.7035-7G>T
|
|
|
NM_025114.4(CEP290):c.7035-9G>A
|
rs2136625815
|
|
NM_025114.4(CEP290):c.7036T>C (p.Leu2346=)
|
|
|
NM_025114.4(CEP290):c.7055A>T (p.Asp2352Val)
|
rs2033762979
|
|
NM_025114.4(CEP290):c.7056T>G (p.Asp2352Glu)
|
|
|
NM_025114.4(CEP290):c.7066G>A (p.Ala2356Thr)
|
|
|
NM_025114.4(CEP290):c.7067C>G (p.Ala2356Gly)
|
rs2136624871
|
|
NM_025114.4(CEP290):c.7077C>A (p.Ile2359=)
|
|
|
NM_025114.4(CEP290):c.7081C>T (p.Gln2361Ter)
|
|
|
NM_025114.4(CEP290):c.7084A>T (p.Ile2362Leu)
|
rs1364454411
|
|
NM_025114.4(CEP290):c.7107T>A (p.Ser2369Arg)
|
|
|
NM_025114.4(CEP290):c.7111G>T (p.Ala2371Ser)
|
|
|
NM_025114.4(CEP290):c.7113T>C (p.Ala2371=)
|
|
|
NM_025114.4(CEP290):c.7119C>T (p.Ser2373=)
|
rs2136623871
|
|
NM_025114.4(CEP290):c.711A>G (p.Gln237=)
|
|
|
NM_025114.4(CEP290):c.7124T>C (p.Ile2375Thr)
|
rs540340404
|
|
NM_025114.4(CEP290):c.7127del (p.Pro2376fs)
|
|
|
NM_025114.4(CEP290):c.7129+10T>C
|
rs2136623387
|
|
NM_025114.4(CEP290):c.7129+13A>T
|
|
|
NM_025114.4(CEP290):c.7129+18dup
|
|
|
NM_025114.4(CEP290):c.7129+20A>G
|
|
|
NM_025114.4(CEP290):c.7129+20_7129+21del
|
|
|
NM_025114.4(CEP290):c.7129+8A>G
|
rs2136623486
|
|
NM_025114.4(CEP290):c.7129+9T>G
|
|
|
NM_025114.4(CEP290):c.712G>T (p.Glu238Ter)
|
rs2138086844
|
|
NM_025114.4(CEP290):c.7130-18G>A
|
|
|
NM_025114.4(CEP290):c.7130-18G>C
|
rs1258894576
|
|
NM_025114.4(CEP290):c.7130-1G>A
|
|
|
NM_025114.4(CEP290):c.7130-6C>G
|
|
|
NM_025114.4(CEP290):c.7130-6C>T
|
rs1267739576
|
|
NM_025114.4(CEP290):c.7130-8_7130-7del
|
rs1555193620
|
|
NM_025114.4(CEP290):c.7134T>C (p.Ala2378=)
|
|
|
NM_025114.4(CEP290):c.713A>C (p.Glu238Ala)
|
rs2138086785
|
|
NM_025114.4(CEP290):c.7143A>G (p.Leu2381=)
|
|
|
NM_025114.4(CEP290):c.7150A>G (p.Lys2384Glu)
|
|
|
NM_025114.4(CEP290):c.7153A>G (p.Ile2385Val)
|
|
|
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer)
|
rs781310385
|
|
NM_025114.4(CEP290):c.7156A>G (p.Lys2386Glu)
|
|
|
NM_025114.4(CEP290):c.7161T>C (p.Asp2387=)
|
rs1419407850
|
|
NM_025114.4(CEP290):c.7162C>T (p.Leu2388=)
|
|
|
NM_025114.4(CEP290):c.7171_7172del (p.Gln2391fs)
|
rs768864797
|
|
NM_025114.4(CEP290):c.7173G>A (p.Gln2391=)
|
|
|
NM_025114.4(CEP290):c.7174C>T (p.Leu2392Phe)
|
|
|
NM_025114.4(CEP290):c.7175_7176del (p.Leu2392fs)
|
|
|
NM_025114.4(CEP290):c.7176C>A (p.Leu2392=)
|
|
|
NM_025114.4(CEP290):c.7179A>G (p.Lys2393=)
|
rs2136564522
|
|
NM_025114.4(CEP290):c.7186G>C (p.Asp2396His)
|
|
|
NM_025114.4(CEP290):c.7188T>C (p.Asp2396=)
|
rs1373327829
|
|
NM_025114.4(CEP290):c.718A>T (p.Arg240Ter)
|
|
|
NM_025114.4(CEP290):c.7191A>C (p.Leu2397=)
|
|
|
NM_025114.4(CEP290):c.7198C>G (p.Gln2400Glu)
|
rs1478582091
|
|
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter)
|
rs1478582091
|
|
NM_025114.4(CEP290):c.7209+11_7209+14del
|
rs750259100
|
|
NM_025114.4(CEP290):c.7209+11_7209+16del
|
rs1480154927
|
|
NM_025114.4(CEP290):c.7209+1G>A
|
|
|
NM_025114.4(CEP290):c.7209+7T>C
|
rs745813087
|
|
NM_025114.4(CEP290):c.7209+7T>G
|
rs745813087
|
|
NM_025114.4(CEP290):c.7209+7_7209+10del
|
|
|
NM_025114.4(CEP290):c.7209+9_7209+13del
|
|
|
NM_025114.4(CEP290):c.725dup (p.Asn242fs)
|
|
|
NM_025114.4(CEP290):c.727T>A (p.Leu243Ile)
|
|
|
NM_025114.4(CEP290):c.729A>G (p.Leu243=)
|
rs1349591192
|
|
NM_025114.4(CEP290):c.730G>T (p.Glu244Ter)
|
rs2138086329
|
|
NM_025114.4(CEP290):c.732A>G (p.Glu244=)
|
rs2138086280
|
|
NM_025114.4(CEP290):c.734_735del (p.Glu245fs)
|
rs1592671672
|
|
NM_025114.4(CEP290):c.737_738del (p.Ser246fs)
|
rs2039957886
|
|
NM_025114.4(CEP290):c.741A>G (p.Val247=)
|
rs2138085914
|
|
NM_025114.4(CEP290):c.742C>T (p.Gln248Ter)
|
rs2138085855
|
|
NM_025114.4(CEP290):c.74C>T (p.Ala25Val)
|
|
|
NM_025114.4(CEP290):c.753G>T (p.Glu251Asp)
|
rs2039957080
|
|
NM_025114.4(CEP290):c.758_760del (p.Met253del)
|
rs2039956756
|
|
NM_025114.4(CEP290):c.75A>G (p.Ala25=)
|
rs2138304637
|
|
NM_025114.4(CEP290):c.768A>G (p.Glu256=)
|
|
|
NM_025114.4(CEP290):c.78T>G (p.Asp26Glu)
|
|
|
NM_025114.4(CEP290):c.790G>T (p.Val264Leu)
|
rs1242440672
|
|
NM_025114.4(CEP290):c.792G>A (p.Val264=)
|
|
|
NM_025114.4(CEP290):c.794A>G (p.His265Arg)
|
rs902444632
|
|
NM_025114.4(CEP290):c.802_803del (p.Thr267_Asp268insTer)
|
|
|
NM_025114.4(CEP290):c.810A>G (p.Val270=)
|
|
|
NM_025114.4(CEP290):c.816T>C (p.Asp272=)
|
|
|
NM_025114.4(CEP290):c.816del (p.Gln273fs)
|
|
|
NM_025114.4(CEP290):c.817C>T (p.Gln273Ter)
|
|
|
NM_025114.4(CEP290):c.828del (p.Glu277fs)
|
rs1555225566
|
|
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter)
|
rs45502896
|
|
NM_025114.4(CEP290):c.832_852+19del
|
rs2138082472
|
|
NM_025114.4(CEP290):c.833_836dup (p.Asp279fs)
|
rs1489175048
|
|
NM_025114.4(CEP290):c.835G>T (p.Asp279Tyr)
|
rs796540607
|
|
NM_025114.4(CEP290):c.836A>T (p.Asp279Val)
|
|
|
NM_025114.4(CEP290):c.837T>C (p.Asp279=)
|
|
|
NM_025114.4(CEP290):c.839A>G (p.His280Arg)
|
|
|
NM_025114.4(CEP290):c.843_845del (p.Tyr281_Gln282delinsTer)
|
rs2138083048
|
|
NM_025114.4(CEP290):c.846A>G (p.Gln282=)
|
|
|
NM_025114.4(CEP290):c.84del (p.Leu28fs)
|
|
|
NM_025114.4(CEP290):c.850C>G (p.Gln284Glu)
|
|
|
NM_025114.4(CEP290):c.850C>T (p.Gln284Ter)
|
|
|
NM_025114.4(CEP290):c.852+10A>C
|
rs1191374264
|
|
NM_025114.4(CEP290):c.852+10A>G
|
rs1191374264
|
|
NM_025114.4(CEP290):c.852+11C>A
|
|
|
NM_025114.4(CEP290):c.852+16A>G
|
rs2138082584
|
|
NM_025114.4(CEP290):c.852+17G>A
|
|
|
NM_025114.4(CEP290):c.852+7A>G
|
|
|
NM_025114.4(CEP290):c.852A>T (p.Gln284His)
|
rs1592671091
|
|
NM_025114.4(CEP290):c.853-10del
|
rs201265955
|
|
NM_025114.4(CEP290):c.853-11T>G
|
|
|
NM_025114.4(CEP290):c.853-11_853-10insC
|
|
|
NM_025114.4(CEP290):c.853-12_853-11insA
|
|
|
NM_025114.4(CEP290):c.853-14del
|
|
|
NM_025114.4(CEP290):c.853-16T>C
|
|
|
NM_025114.4(CEP290):c.853-18A>C
|
rs2138072197
|
|
NM_025114.4(CEP290):c.853-20G>C
|
rs1565913252
|
|
NM_025114.4(CEP290):c.853-2A>G
|
|
|
NM_025114.4(CEP290):c.853-2A>T
|
|
|
NM_025114.4(CEP290):c.853-7C>A
|
rs2138071676
|
|
NM_025114.4(CEP290):c.853G>A (p.Val285Met)
|
|
|
NM_025114.4(CEP290):c.854T>G (p.Val285Gly)
|
|
|
NM_025114.4(CEP290):c.858G>A (p.Gln286=)
|
|
|
NM_025114.4(CEP290):c.864T>A (p.Leu288=)
|
|
|
NM_025114.4(CEP290):c.867A>C (p.Thr289=)
|
rs2138071158
|
|
NM_025114.4(CEP290):c.871C>A (p.Leu291Ile)
|
|
|
NM_025114.4(CEP290):c.881C>A (p.Ser294Ter)
|
|
|
NM_025114.4(CEP290):c.888T>C (p.Asn296=)
|
|
|
NM_025114.4(CEP290):c.890A>T (p.Glu297Val)
|
|
|
NM_025114.4(CEP290):c.894A>C (p.Glu298Asp)
|
|
|
NM_025114.4(CEP290):c.894A>T (p.Glu298Asp)
|
rs2039900054
|
|
NM_025114.4(CEP290):c.895G>A (p.Asp299Asn)
|
|
|
NM_025114.4(CEP290):c.897T>C (p.Asp299=)
|
|
|
NM_025114.4(CEP290):c.898G>A (p.Asp300Asn)
|
|
|
NM_025114.4(CEP290):c.916G>A (p.Val306Ile)
|
rs558949569
|
|
NM_025114.4(CEP290):c.916G>T (p.Val306Phe)
|
rs558949569
|
|
NM_025114.4(CEP290):c.918C>T (p.Val306=)
|
rs1592668759
|
|
NM_025114.4(CEP290):c.93C>G (p.Ser31=)
|
rs375955381
|
|
NM_025114.4(CEP290):c.942+11del
|
|
|
NM_025114.4(CEP290):c.942+13A>G
|
|
|
NM_025114.4(CEP290):c.942+14A>G
|
|
|
NM_025114.4(CEP290):c.942+1G>A
|
rs2039897317
|
|
NM_025114.4(CEP290):c.942+1G>C
|
rs2039897317
|
|
NM_025114.4(CEP290):c.942+4dup
|
rs558914208
|
|
NM_025114.4(CEP290):c.942+6T>G
|
rs886049884
|
|
NM_025114.4(CEP290):c.943-14G>T
|
|
|
NM_025114.4(CEP290):c.943-16T>C
|
|
|
NM_025114.4(CEP290):c.943-1G>A
|
rs2138025029
|
|
NM_025114.4(CEP290):c.943-1G>C
|
rs2138025029
|
|
NM_025114.4(CEP290):c.943-4C>G
|
|
|
NM_025114.4(CEP290):c.948T>C (p.Ile316=)
|
rs767967987
|
|
NM_025114.4(CEP290):c.948T>G (p.Ile316Met)
|
rs767967987
|
|
NM_025114.4(CEP290):c.955del (p.Ser319fs)
|
rs764507012
|
|
NM_025114.4(CEP290):c.961G>A (p.Asp321Asn)
|
rs2138024512
|
|
NM_025114.4(CEP290):c.962A>T (p.Asp321Val)
|
|
|
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu)
|
rs774072453
|
|
NM_025114.4(CEP290):c.964G>A (p.Asp322Asn)
|
rs536127246
|
|
NM_025114.4(CEP290):c.966T>C (p.Asp322=)
|
rs762450740
|
|
NM_025114.4(CEP290):c.976_979del (p.Glu326fs)
|
|
|
NM_025114.4(CEP290):c.983A>C (p.Gln328Pro)
|
|
|
NM_025114.4(CEP290):c.985C>T (p.Gln329Ter)
|
rs2138023519
|
|
NM_025114.4(CEP290):c.993A>G (p.Leu331=)
|
|
|
NM_025114.4(CEP290):c.994C>T (p.His332Tyr)
|
|
|
NM_025114.4(CEP290):c.99C>T (p.Ser33=)
|
rs866917306
|
|
NM_025114.4(CEP290):c.[943-4C>T;943-8A>T]
|
|
|