NM_025114.4(CEP290):c.6960+257T>C
|
rs2468242
|
0.92704
|
NM_025114.4(CEP290):c.6645+67G>A
|
rs2471512
|
0.92687
|
NM_025114.4(CEP290):c.4195-348C>T
|
rs2468249
|
0.89010
|
NM_025114.4(CEP290):c.943-213G>A
|
rs2471521
|
0.87693
|
NM_025114.4(CEP290):c.1066-255T>C
|
rs2468260
|
0.87677
|
NM_025114.4(CEP290):c.853-12_853-11insG
|
rs71082425
|
0.87640
|
NM_025114.4(CEP290):c.2818-50G>C
|
rs2471532
|
0.76931
|
NM_025114.4(CEP290):c.5227-43G>A
|
rs2468245
|
0.76925
|
NM_025114.4(CEP290):c.1824+368T>G
|
rs2960425
|
0.76923
|
NM_025114.4(CEP290):c.4704+281G>A
|
rs2468248
|
0.76918
|
NM_025114.4(CEP290):c.942+271A>G
|
rs2471520
|
0.76896
|
NM_025114.4(CEP290):c.-28+101C>T
|
rs2468222
|
0.74729
|
NM_025114.4(CEP290):c.2991+1897G>A
|
rs2471534
|
0.50509
|
NM_025114.4(CEP290):c.-27-188dup
|
rs71082427
|
0.50493
|
NM_025114.4(CEP290):c.2991+205T>C
|
rs10466971
|
0.30254
|
NM_025114.4(CEP290):c.6646-275T>C
|
rs12426625
|
0.13876
|
NM_025114.4(CEP290):c.6961-138A>T
|
rs17418744
|
0.12927
|
NM_025114.4(CEP290):c.2055T>C (p.Ala685=)
|
rs45465996
|
0.11965
|
NM_025114.4(CEP290):c.5227-301A>C
|
rs59247112
|
0.10763
|
NM_025114.4(CEP290):c.1824+81T>G
|
rs190820871
|
0.10429
|
NM_025114.4(CEP290):c.496-269G>T
|
rs7310461
|
0.09932
|
NM_025114.4(CEP290):c.2217+135A>T
|
rs78143067
|
0.09910
|
NM_025114.4(CEP290):c.4705-257A>G
|
rs11104732
|
0.08006
|
NM_025114.4(CEP290):c.1360-65A>T
|
rs11104741
|
0.07517
|
NM_025114.4(CEP290):c.1189+257A>C
|
rs28393959
|
0.07511
|
NM_025114.4(CEP290):c.6645+184T>A
|
rs73207079
|
0.07320
|
NM_025114.4(CEP290):c.6960+64A>G
|
rs76663684
|
0.05574
|
NM_025114.4(CEP290):c.1910-207G>A
|
rs7952847
|
0.05378
|
NM_025114.4(CEP290):c.2052+268A>G
|
rs60380764
|
0.05370
|
NM_025114.4(CEP290):c.5587-98A>G
|
rs7960861
|
0.05359
|
NM_025114.4(CEP290):c.442-19T>A
|
rs113132803
|
0.05334
|
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu)
|
rs11104738
|
0.05247
|
NM_025114.4(CEP290):c.942+28T>C
|
rs56149649
|
0.04349
|
NM_025114.4(CEP290):c.7130-129A>G
|
rs59691324
|
0.04347
|
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp)
|
rs7970228
|
0.04262
|
NM_025114.4(CEP290):c.3309+225T>G
|
rs76560287
|
0.04257
|
NM_025114.4(CEP290):c.442-85C>T
|
rs115764060
|
0.04025
|
NM_025114.4(CEP290):c.5709+25A>C
|
rs17015438
|
0.03950
|
NM_025114.4(CEP290):c.3573+187C>A
|
rs112112148
|
0.03946
|
NM_025114.4(CEP290):c.2483+226G>A
|
rs79549870
|
0.03740
|
NM_025114.4(CEP290):c.7035-38C>G
|
rs45477492
|
0.03735
|
NM_025114.4(CEP290):c.2368-37T>G
|
rs115837670
|
0.03623
|
NM_025114.4(CEP290):c.4704+314A>T
|
rs17015443
|
0.03598
|
NM_025114.4(CEP290):c.1066-200A>G
|
rs17335506
|
0.02972
|
NM_025114.4(CEP290):c.5012+142A>G
|
rs78015808
|
0.02918
|
NM_025114.4(CEP290):c.297+36A>G
|
rs45468703
|
0.02898
|
NM_025114.4(CEP290):c.1189+91T>C
|
rs116707638
|
0.02525
|
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=)
|
rs117122459
|
0.02390
|
NM_025114.4(CEP290):c.670-116A>G
|
rs77623866
|
0.02275
|
NM_025114.4(CEP290):c.6270+248T>C
|
rs117508700
|
0.02206
|
NM_025114.4(CEP290):c.251-10A>T
|
rs190383141
|
0.02052
|
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly)
|
rs79705698
|
0.02050
|
NM_025114.4(CEP290):c.3462-286A>G
|
rs77707234
|
0.01976
|
NM_025114.4(CEP290):c.-27-56A>C
|
rs28636672
|
0.01737
|
NM_025114.4(CEP290):c.3573+318A>G
|
rs116467530
|
0.01635
|
NM_025114.4(CEP290):c.6136-254G>C
|
rs80192319
|
0.01609
|
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln)
|
rs45502896
|
0.01608
|
NM_025114.4(CEP290):c.181-249G>A
|
rs116692715
|
0.01505
|
NM_025114.4(CEP290):c.251-93A>G
|
rs111437173
|
0.01295
|
NM_025114.4(CEP290):c.2817+48A>G
|
rs76460170
|
0.01228
|
NM_025114.4(CEP290):c.298-301C>T
|
rs80213495
|
0.01225
|
NM_025114.4(CEP290):c.7035-140T>C
|
rs150353864
|
0.01189
|
NM_025114.4(CEP290):c.2991+208A>G
|
rs114745585
|
0.01111
|
NM_025114.4(CEP290):c.4437+324T>G
|
rs115578573
|
0.00920
|
NM_025114.4(CEP290):c.181-288G>A
|
rs141907559
|
0.00896
|
NM_025114.4(CEP290):c.-33G>T
|
rs139415563
|
0.00894
|
NM_025114.4(CEP290):c.4195-340G>A
|
rs115471416
|
0.00825
|
NM_025114.4(CEP290):c.7034+275G>A
|
rs74338819
|
0.00821
|
NM_025114.4(CEP290):c.5710-159C>T
|
rs115166743
|
0.00820
|
NM_025114.4(CEP290):c.6358-291C>A
|
rs114526714
|
0.00819
|
NM_025114.4(CEP290):c.7130-73G>A
|
rs114725040
|
0.00819
|
NM_025114.4(CEP290):c.1909+179G>C
|
rs75511160
|
0.00817
|
NM_025114.4(CEP290):c.3462-215A>G
|
rs77508014
|
0.00817
|
NM_025114.4(CEP290):c.6011+160_6011+161insAT
|
rs145898720
|
0.00817
|
NM_025114.4(CEP290):c.2367+63G>A
|
rs75731877
|
0.00816
|
NM_025114.4(CEP290):c.442-250T>C
|
rs143450226
|
0.00816
|
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=)
|
rs150138016
|
0.00815
|
NM_025114.4(CEP290):c.6645+211C>T
|
rs142591645
|
0.00815
|
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=)
|
rs79644671
|
0.00740
|
NM_025114.4(CEP290):c.4195-341C>T
|
rs149499240
|
0.00735
|
NM_025114.4(CEP290):c.6136-109C>T
|
rs76564263
|
0.00681
|
NM_025114.4(CEP290):c.4438-253C>T
|
rs75939111
|
0.00680
|
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val)
|
rs75220808
|
0.00678
|
NM_025114.4(CEP290):c.2217+45T>C
|
rs45461003
|
0.00636
|
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu)
|
rs147371999
|
0.00585
|
NM_025114.4(CEP290):c.853-197C>G
|
rs147937851
|
0.00584
|
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln)
|
rs61941020
|
0.00577
|
NM_025114.4(CEP290):c.1824+72C>T
|
rs565542317
|
0.00565
|
NM_025114.4(CEP290):c.853-276A>G
|
rs12298094
|
0.00527
|
NM_025114.4(CEP290):c.2991+39A>G
|
rs147626659
|
0.00519
|
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)
|
rs117852025
|
0.00488
|
NM_025114.4(CEP290):c.1523-162G>A
|
rs138019050
|
0.00479
|
NM_025114.4(CEP290):c.5226+231C>T
|
rs146237577
|
0.00479
|
NM_025114.4(CEP290):c.6012-98C>T
|
rs141714178
|
0.00466
|
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val)
|
rs11104729
|
0.00463
|
NM_025114.4(CEP290):c.7129+157T>C
|
rs140267645
|
0.00462
|
NM_025114.4(CEP290):c.180+181A>G
|
rs115165018
|
0.00460
|
NM_025114.4(CEP290):c.3573+227C>T
|
rs148047873
|
0.00432
|
NM_025114.4(CEP290):c.1825-165G>A
|
rs115517765
|
0.00408
|
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)
|
rs188164241
|
0.00405
|
NM_025114.4(CEP290):c.1711+251T>G
|
rs116932106
|
0.00378
|
NM_025114.4(CEP290):c.1522+6C>T
|
rs148446546
|
0.00371
|
NM_025114.4(CEP290):c.6136-123G>A
|
rs144023799
|
0.00345
|
NM_025114.4(CEP290):c.7129+105A>G
|
rs114920093
|
0.00339
|
NM_025114.4(CEP290):c.1066-111C>T
|
rs141158869
|
0.00335
|
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)
|
rs117370446
|
0.00329
|
NM_025114.4(CEP290):c.496-118A>C
|
rs114866189
|
0.00300
|
NM_025114.4(CEP290):c.496-195A>G
|
rs76233478
|
0.00298
|
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)
|
rs182369459
|
0.00241
|
NM_025114.4(CEP290):c.251-11T>A
|
rs200666995
|
0.00198
|
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)
|
rs139998038
|
0.00187
|
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)
|
rs183655276
|
0.00187
|
NM_025114.4(CEP290):c.3573+215G>A
|
rs374887934
|
0.00153
|
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly)
|
rs200211587
|
0.00146
|
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn)
|
rs184143186
|
0.00138
|
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)
|
rs201838492
|
0.00133
|
NM_025114.4(CEP290):c.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.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.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.2667G>T (p.Leu889Phe)
|
rs142038791
|
0.00049
|
NM_025114.4(CEP290):c.4813-2A>G
|
rs369523378
|
0.00046
|
NM_025114.4(CEP290):c.1360-4T>G
|
rs200328638
|
0.00040
|
NM_025114.4(CEP290):c.943-4C>T
|
rs199770158
|
0.00037
|
NM_025114.4(CEP290):c.943-8A>T
|
rs200729812
|
0.00037
|
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val)
|
rs201569048
|
0.00036
|
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn)
|
rs199747962
|
0.00032
|
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly)
|
rs192259143
|
0.00032
|
NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser)
|
rs191613017
|
0.00032
|
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp)
|
rs201353893
|
0.00031
|
NM_025114.4(CEP290):c.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.3660G>T (p.Lys1220Asn)
|
rs201982308
|
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.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.1729C>T (p.Leu577=)
|
rs201295052
|
0.00020
|
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly)
|
rs184323010
|
0.00020
|
NM_025114.4(CEP290):c.2446C>T (p.Arg816Cys)
|
rs374656545
|
0.00019
|
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp)
|
rs200969981
|
0.00019
|
NM_025114.4(CEP290):c.1918T>C (p.Leu640=)
|
rs541138095
|
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.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.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.4088G>A (p.Arg1363Gln)
|
rs188502327
|
0.00011
|
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His)
|
rs371833544
|
0.00011
|
NM_025114.4(CEP290):c.4438-13T>C
|
rs528298900
|
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.1825-8T>G
|
rs769405843
|
0.00009
|
NM_025114.4(CEP290):c.4437+1G>A
|
rs760915898
|
0.00009
|
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)
|
rs137852834
|
0.00009
|
NM_025114.4(CEP290):c.5055G>A (p.Ala1685=)
|
rs73192874
|
0.00009
|
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)
|
rs140236736
|
0.00007
|
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)
|
rs376493409
|
0.00007
|
NM_025114.4(CEP290):c.6646-11T>G
|
rs1431021703
|
0.00007
|
NM_025114.4(CEP290):c.4063C>T (p.Arg1355Cys)
|
rs376425111
|
0.00006
|
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg)
|
rs199826787
|
0.00006
|
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)
|
rs62638179
|
0.00006
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_025114.4(CEP290):c.6023C>T (p.Ala2008Val)
|
rs376307540
|
0.00006
|
NM_025114.4(CEP290):c.6645+1G>A
|
rs201218801
|
0.00006
|
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.998A>C (p.Asn333Thr)
|
rs376033047
|
0.00005
|
NM_025114.4(CEP290):c.1104C>T (p.Thr368=)
|
rs483352755
|
0.00004
|
NM_025114.4(CEP290):c.1945G>A (p.Glu649Lys)
|
rs761705359
|
0.00004
|
NM_025114.4(CEP290):c.2129G>C (p.Gly710Ala)
|
rs969763835
|
0.00004
|
NM_025114.4(CEP290):c.3273G>A (p.Glu1091=)
|
rs771584252
|
0.00004
|
NM_025114.4(CEP290):c.3791G>A (p.Arg1264His)
|
rs774144082
|
0.00004
|
NM_025114.4(CEP290):c.4064G>A (p.Arg1355His)
|
rs548558619
|
0.00004
|
NM_025114.4(CEP290):c.4240C>G (p.Leu1414Val)
|
rs762417751
|
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.5182G>T (p.Glu1728Ter)
|
rs370119681
|
0.00004
|
NM_025114.4(CEP290):c.5665G>C (p.Glu1889Gln)
|
rs186330724
|
0.00004
|
NM_025114.4(CEP290):c.6191A>G (p.Glu2064Gly)
|
rs987259388
|
0.00004
|
NM_025114.4(CEP290):c.814G>A (p.Asp272Asn)
|
rs866480852
|
0.00004
|
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)
|
rs886042153
|
0.00003
|
NM_025114.4(CEP290):c.3593C>T (p.Ser1198Leu)
|
rs372640024
|
0.00003
|
NM_025114.4(CEP290):c.4195-9T>C
|
rs546957016
|
0.00003
|
NM_025114.4(CEP290):c.4438-7A>G
|
rs764079476
|
0.00003
|
NM_025114.4(CEP290):c.4704+16A>G
|
rs559388032
|
0.00003
|
NM_025114.4(CEP290):c.514A>C (p.Lys172Gln)
|
rs765944337
|
0.00003
|
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter)
|
rs575767207
|
0.00003
|
NM_025114.4(CEP290):c.5570T>C (p.Leu1857Pro)
|
rs1485169564
|
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.7048C>T (p.Gln2350Ter)
|
rs375548374
|
0.00003
|
NM_025114.4(CEP290):c.7070A>G (p.Glu2357Gly)
|
rs759725378
|
0.00003
|
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter)
|
rs776645403
|
0.00002
|
NM_025114.4(CEP290):c.1549T>C (p.Leu517=)
|
rs752942122
|
0.00002
|
NM_025114.4(CEP290):c.2273T>C (p.Val758Ala)
|
rs369868981
|
0.00002
|
NM_025114.4(CEP290):c.3238T>G (p.Tyr1080Asp)
|
rs750466529
|
0.00002
|
NM_025114.4(CEP290):c.4156A>G (p.Ile1386Val)
|
rs1427374639
|
0.00002
|
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)
|
rs539400286
|
0.00002
|
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)
|
rs749439750
|
0.00002
|
NM_025114.4(CEP290):c.5013-7A>C
|
rs762217156
|
0.00002
|
NM_025114.4(CEP290):c.5112A>G (p.Leu1704=)
|
rs758459529
|
0.00002
|
NM_025114.4(CEP290):c.551A>G (p.Gln184Arg)
|
rs374752439
|
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.739G>A (p.Val247Ile)
|
rs1409885182
|
0.00002
|
NM_025114.4(CEP290):c.1190-2A>G
|
rs200818935
|
0.00001
|
NM_025114.4(CEP290):c.1214C>T (p.Thr405Ile)
|
rs781183605
|
0.00001
|
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter)
|
rs1170451277
|
0.00001
|
NM_025114.4(CEP290):c.1517G>A (p.Arg506His)
|
rs866571949
|
0.00001
|
NM_025114.4(CEP290):c.1593C>A (p.Tyr531Ter)
|
rs763559949
|
0.00001
|
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter)
|
rs760415289
|
0.00001
|
NM_025114.4(CEP290):c.1711+8C>T
|
rs765158159
|
0.00001
|
NM_025114.4(CEP290):c.1712-6A>G
|
rs1452155200
|
0.00001
|
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter)
|
rs371496675
|
0.00001
|
NM_025114.4(CEP290):c.181-2A>G
|
rs886042359
|
0.00001
|
NM_025114.4(CEP290):c.1824+15T>C
|
rs999848467
|
0.00001
|
NM_025114.4(CEP290):c.192A>C (p.Gln64His)
|
rs965922201
|
0.00001
|
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter)
|
rs780225183
|
0.00001
|
NM_025114.4(CEP290):c.2068A>C (p.Asn690His)
|
rs398124411
|
0.00001
|
NM_025114.4(CEP290):c.2348A>G (p.Tyr783Cys)
|
rs780990839
|
0.00001
|
NM_025114.4(CEP290):c.2423A>G (p.Tyr808Cys)
|
rs773007151
|
0.00001
|
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile)
|
rs764963626
|
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.297+1G>T
|
rs878853360
|
0.00001
|
NM_025114.4(CEP290):c.2T>A (p.Met1Lys)
|
rs368984997
|
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.3240T>C (p.Tyr1080=)
|
rs886042467
|
0.00001
|
NM_025114.4(CEP290):c.3385G>A (p.Ala1129Thr)
|
rs71454116
|
0.00001
|
NM_025114.4(CEP290):c.3409C>T (p.Arg1137Trp)
|
rs759961956
|
0.00001
|
NM_025114.4(CEP290):c.3557A>G (p.Gln1186Arg)
|
rs920028502
|
0.00001
|
NM_025114.4(CEP290):c.3594G>A (p.Ser1198=)
|
rs376645523
|
0.00001
|
NM_025114.4(CEP290):c.3613C>A (p.Gln1205Lys)
|
rs1240887746
|
0.00001
|
NM_025114.4(CEP290):c.3644C>T (p.Ala1215Val)
|
rs1420933299
|
0.00001
|
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys)
|
rs768864296
|
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.3976A>G (p.Lys1326Glu)
|
rs377156725
|
0.00001
|
NM_025114.4(CEP290):c.4029G>A (p.Lys1343=)
|
rs1057519245
|
0.00001
|
NM_025114.4(CEP290):c.4150C>T (p.Arg1384Cys)
|
rs794727563
|
0.00001
|
NM_025114.4(CEP290):c.4257C>A (p.Asp1419Glu)
|
rs771898047
|
0.00001
|
NM_025114.4(CEP290):c.4337G>A (p.Ser1446Asn)
|
rs746106679
|
0.00001
|
NM_025114.4(CEP290):c.437del (p.Glu146fs)
|
rs1452465499
|
0.00001
|
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter)
|
rs757641323
|
0.00001
|
NM_025114.4(CEP290):c.4705-1G>T
|
rs777464278
|
0.00001
|
NM_025114.4(CEP290):c.4736A>T (p.Glu1579Val)
|
rs760059883
|
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.50A>C (p.Asp17Ala)
|
rs1182703361
|
0.00001
|
NM_025114.4(CEP290):c.5587-1G>C
|
rs968692633
|
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.5932C>T (p.Arg1978Ter)
|
rs371525247
|
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.6098A>G (p.Glu2033Gly)
|
rs756608200
|
0.00001
|
NM_025114.4(CEP290):c.6132T>G (p.Pro2044=)
|
rs765002773
|
0.00001
|
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)
|
rs137852835
|
0.00001
|
NM_025114.4(CEP290):c.6193A>G (p.Asn2065Asp)
|
rs886043119
|
0.00001
|
NM_025114.4(CEP290):c.6235C>A (p.Leu2079Ile)
|
rs753687613
|
0.00001
|
NM_025114.4(CEP290):c.6859G>A (p.Ala2287Thr)
|
rs1212611161
|
0.00001
|
NM_025114.4(CEP290):c.6941A>G (p.Asn2314Ser)
|
rs148173636
|
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
|
GRCh37/hg19 12q21.32(chr12:88447483-88530520)x3
|
|
|
GRCh37/hg19 12q21.32(chr12:88448136-88524191)x3
|
|
|
GRCh37/hg19 12q21.32(chr12:88448136-88530520)x3
|
|
|
GRCh37/hg19 12q21.32(chr12:88453608-88530520)x3
|
|
|
GRCh37/hg19 12q21.32(chr12:88454677-88524191)x3
|
|
|
GRCh37/hg19 12q21.32(chr12:88462318-88524191)x3
|
|
|
GRCh37/hg19 12q21.32(chr12:88485224-88505633)x1
|
|
|
NM_025114.4(CEP290):c.102+1G>T
|
rs2040637111
|
|
NM_025114.4(CEP290):c.104T>C (p.Val35Ala)
|
|
|
NM_025114.4(CEP290):c.1097T>C (p.Met366Thr)
|
|
|
NM_025114.4(CEP290):c.1175T>G (p.Leu392Arg)
|
rs794727106
|
|
NM_025114.4(CEP290):c.1199C>T (p.Thr400Ile)
|
rs773578133
|
|
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)
|
rs386834148
|
|
NM_025114.4(CEP290):c.1360-250_1360-249del
|
rs536091919
|
|
NM_025114.4(CEP290):c.1392_1393insCTACTTA (p.Ile465fs)
|
rs1565900023
|
|
NM_025114.4(CEP290):c.1419_1423del (p.Ile474fs)
|
rs771266705
|
|
NM_025114.4(CEP290):c.1512_1515del (p.Arg504fs)
|
rs886043303
|
|
NM_025114.4(CEP290):c.1522+58del
|
rs202232715
|
|
NM_025114.4(CEP290):c.1550del (p.Asp516_Leu517insTer)
|
rs62640579
|
|
NM_025114.4(CEP290):c.1554T>A (p.Thr518=)
|
|
|
NM_025114.4(CEP290):c.1638G>A (p.Glu546=)
|
|
|
NM_025114.4(CEP290):c.1655T>C (p.Leu552Pro)
|
rs2039206485
|
|
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.1676T>C (p.Met559Thr)
|
|
|
NM_025114.4(CEP290):c.1709C>G (p.Ser570Ter)
|
rs1272411609
|
|
NM_025114.4(CEP290):c.180+196G>T
|
rs1029384340
|
|
NM_025114.4(CEP290):c.180+1G>A
|
rs758593134
|
|
NM_025114.4(CEP290):c.181-1G>T
|
rs281865190
|
|
NM_025114.4(CEP290):c.1824+39dup
|
rs890305929
|
|
NM_025114.4(CEP290):c.1824+59del
|
rs890305929
|
|
NM_025114.4(CEP290):c.1824+60G>T
|
rs1351164770
|
|
NM_025114.4(CEP290):c.1825-17CT[2]
|
rs367600498
|
|
NM_025114.4(CEP290):c.1825-715T>C
|
|
|
NM_025114.4(CEP290):c.1858G>T (p.Glu620Ter)
|
rs1203763812
|
|
NM_025114.4(CEP290):c.1860_1863del (p.Arg621fs)
|
rs766608755
|
|
NM_025114.4(CEP290):c.1894A>G (p.Lys632Glu)
|
|
|
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter)
|
rs1555220625
|
|
NM_025114.4(CEP290):c.1921G>C (p.Val641Leu)
|
rs886049883
|
|
NM_025114.4(CEP290):c.1A>G (p.Met1Val)
|
rs2040644756
|
|
NM_025114.4(CEP290):c.2052+1_2052+2del
|
rs747835249
|
|
NM_025114.4(CEP290):c.2052+30del
|
rs11358611
|
|
NM_025114.4(CEP290):c.2067G>A (p.Lys689=)
|
rs1425613490
|
|
NM_025114.4(CEP290):c.2089G>C (p.Ala697Pro)
|
rs886044122
|
|
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly)
|
rs200454865
|
|
NM_025114.4(CEP290):c.2112del (p.Val705fs)
|
rs863225183
|
|
NM_025114.4(CEP290):c.2119_2123dup (p.Thr709fs)
|
rs62640580
|
|
NM_025114.4(CEP290):c.2138A>G (p.Glu713Gly)
|
rs2137723121
|
|
NM_025114.4(CEP290):c.2191C>A (p.Gln731Lys)
|
rs767250881
|
|
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys)
|
rs62635288
|
|
NM_025114.4(CEP290):c.2213del (p.Asn737_Leu738insTer)
|
rs2137720951
|
|
NM_025114.4(CEP290):c.2218-1_2225del
|
rs281865193
|
|
NM_025114.4(CEP290):c.2248_2249del (p.Leu750fs)
|
rs587783010
|
|
NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter)
|
rs753884599
|
|
NM_025114.4(CEP290):c.2351T>A (p.Leu784Ter)
|
rs1206723575
|
|
NM_025114.4(CEP290):c.2373A>G (p.Leu791=)
|
rs760126835
|
|
NM_025114.4(CEP290):c.2390del (p.Lys797fs)
|
rs781670422
|
|
NM_025114.4(CEP290):c.2484-151A>G
|
|
|
NM_025114.4(CEP290):c.2484-18GTTTT[4]
|
rs745522483
|
|
NM_025114.4(CEP290):c.251-114_251-96del
|
rs552449427
|
|
NM_025114.4(CEP290):c.251-19dup
|
rs752284551
|
|
NM_025114.4(CEP290):c.251-4del
|
rs759170743
|
|
NM_025114.4(CEP290):c.2515A>T (p.Thr839Ser)
|
rs1227513489
|
|
NM_025114.4(CEP290):c.255T>A (p.Asn85Lys)
|
|
|
NM_025114.4(CEP290):c.2574A>G (p.Val858=)
|
rs768235992
|
|
NM_025114.4(CEP290):c.2580A>G (p.Glu860=)
|
rs1592590783
|
|
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs)
|
rs1221464366
|
|
NM_025114.4(CEP290):c.265dup (p.Thr89fs)
|
rs281865191
|
|
NM_025114.4(CEP290):c.2668C>T (p.Gln890Ter)
|
rs886044332
|
|
NM_025114.4(CEP290):c.2682dup (p.Ser895fs)
|
rs1555216730
|
|
NM_025114.4(CEP290):c.2683T>C (p.Ser895Pro)
|
rs1555216720
|
|
NM_025114.4(CEP290):c.268A>T (p.Lys90Ter)
|
rs1057517886
|
|
NM_025114.4(CEP290):c.2708T>G (p.Leu903Ter)
|
rs768822859
|
|
NM_025114.4(CEP290):c.2738_2742del (p.Glu913fs)
|
rs1565876618
|
|
NM_025114.4(CEP290):c.2817+4C>T
|
rs768895932
|
|
NM_025114.4(CEP290):c.2823G>A (p.Met941Ile)
|
rs2137544228
|
|
NM_025114.4(CEP290):c.2856_2858del (p.Val953del)
|
|
|
NM_025114.4(CEP290):c.2911G>T (p.Glu971Ter)
|
rs780805963
|
|
NM_025114.4(CEP290):c.2953A>G (p.Met985Val)
|
rs1160930595
|
|
NM_025114.4(CEP290):c.2969del (p.Thr990fs)
|
rs1064793733
|
|
NM_025114.4(CEP290):c.297+2T>C
|
rs2040496802
|
|
NM_025114.4(CEP290):c.297+3A>G
|
|
|
NM_025114.4(CEP290):c.298-144del
|
rs112841615
|
|
NM_025114.4(CEP290):c.2991+1325C>G
|
rs10858687
|
|
NM_025114.4(CEP290):c.2991+1333dup
|
rs762783922
|
|
NM_025114.4(CEP290):c.2991+1356_2991+1357del
|
rs762783922
|
|
NM_025114.4(CEP290):c.2991+1357del
|
rs762783922
|
|
NM_025114.4(CEP290):c.2991+1358G>T
|
rs1409280810
|
|
NM_025114.4(CEP290):c.2991+179CA[8]
|
rs59853208
|
|
NM_025114.4(CEP290):c.2992-322G>A
|
rs116110864
|
|
NM_025114.4(CEP290):c.2992T>G (p.Cys998Gly)
|
rs2037480137
|
|
NM_025114.4(CEP290):c.3012del (p.Glu1005fs)
|
rs1555213204
|
|
NM_025114.4(CEP290):c.3097A>T (p.Lys1033Ter)
|
rs1555213161
|
|
NM_025114.4(CEP290):c.3104-6A>G
|
|
|
NM_025114.4(CEP290):c.3107A>G (p.Asn1036Ser)
|
rs1064797172
|
|
NM_025114.4(CEP290):c.3123dup (p.Lys1042Ter)
|
rs1555212271
|
|
NM_025114.4(CEP290):c.3162_3167del (p.Ile1055_Ser1056del)
|
rs760503950
|
|
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs)
|
rs62640570
|
|
NM_025114.4(CEP290):c.3176dup (p.Thr1060fs)
|
rs62640571
|
|
NM_025114.4(CEP290):c.3190del (p.Glu1063_Met1064insTer)
|
rs786205620
|
|
NM_025114.4(CEP290):c.3212dup (p.Arg1072fs)
|
rs778407127
|
|
NM_025114.4(CEP290):c.3250C>G (p.Arg1084Gly)
|
rs372918770
|
|
NM_025114.4(CEP290):c.3310-1_3310delinsAA
|
rs2037150824
|
|
NM_025114.4(CEP290):c.3310-5C>A
|
rs2137345196
|
|
NM_025114.4(CEP290):c.3338A>C (p.Lys1113Thr)
|
rs780796789
|
|
NM_025114.4(CEP290):c.3355del (p.Arg1119fs)
|
|
|
NM_025114.4(CEP290):c.3461+1G>A
|
rs766952056
|
|
NM_025114.4(CEP290):c.3462dup (p.Leu1155fs)
|
rs2037140260
|
|
NM_025114.4(CEP290):c.3534G>A (p.Lys1178=)
|
rs756488924
|
|
NM_025114.4(CEP290):c.3574-257dup
|
rs1185071952
|
|
NM_025114.4(CEP290):c.3574-2A>G
|
|
|
NM_025114.4(CEP290):c.3574-9del
|
rs10717563
|
|
NM_025114.4(CEP290):c.3605A>T (p.Lys1202Met)
|
rs375065584
|
|
NM_025114.4(CEP290):c.3617A>G (p.His1206Arg)
|
|
|
NM_025114.4(CEP290):c.3693G>T (p.Met1231Ile)
|
|
|
NM_025114.4(CEP290):c.369del (p.Gln123fs)
|
rs773622064
|
|
NM_025114.4(CEP290):c.3726T>G (p.Leu1242=)
|
rs1592856883
|
|
NM_025114.4(CEP290):c.3777_3778del (p.Arg1259fs)
|
rs765483163
|
|
NM_025114.4(CEP290):c.3784_3785insTT (p.His1262fs)
|
rs1064797171
|
|
NM_025114.4(CEP290):c.379A>C (p.Lys127Gln)
|
rs781101346
|
|
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)
|
rs62640581
|
|
NM_025114.4(CEP290):c.3829_3830delinsCT (p.Ala1277Leu)
|
rs1565845877
|
|
NM_025114.4(CEP290):c.384_387del (p.Asp128fs)
|
rs386834157
|
|
NM_025114.4(CEP290):c.3878T>G (p.Leu1293Arg)
|
|
|
NM_025114.4(CEP290):c.3905A>C (p.Gln1302Pro)
|
rs1064794650
|
|
NM_025114.4(CEP290):c.3931C>G (p.His1311Asp)
|
|
|
NM_025114.4(CEP290):c.3943G>T (p.Glu1315Ter)
|
rs886042020
|
|
NM_025114.4(CEP290):c.3944A>G (p.Glu1315Gly)
|
|
|
NM_025114.4(CEP290):c.3962T>C (p.Met1321Thr)
|
rs1346175871
|
|
NM_025114.4(CEP290):c.3980G>A (p.Gly1327Asp)
|
rs959651787
|
|
NM_025114.4(CEP290):c.39T>G (p.Val13=)
|
rs2040642206
|
|
NM_025114.4(CEP290):c.4028del (p.Lys1343fs)
|
rs1213286417
|
|
NM_025114.4(CEP290):c.4029+1G>A
|
rs2036808766
|
|
NM_025114.4(CEP290):c.4043A>C (p.His1348Pro)
|
rs1285246761
|
|
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp)
|
rs181121175
|
|
NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter)
|
rs779645669
|
|
NM_025114.4(CEP290):c.4115_4116del (p.Ile1372fs)
|
rs62640582
|
|
NM_025114.4(CEP290):c.4159dup (p.Ser1387fs)
|
rs1555208870
|
|
NM_025114.4(CEP290):c.4195-215_4195-214insGATGGATGGATGGATA
|
rs770390958
|
|
NM_025114.4(CEP290):c.4207del (p.Arg1403fs)
|
rs2036582730
|
|
NM_025114.4(CEP290):c.4257dup (p.Ile1420fs)
|
rs1555208180
|
|
NM_025114.4(CEP290):c.43C>G (p.Pro15Ala)
|
rs1425716932
|
|
NM_025114.4(CEP290):c.442-22dup
|
rs199511358
|
|
NM_025114.4(CEP290):c.442-54del
|
rs59949315
|
|
NM_025114.4(CEP290):c.4437+72_4437+75del
|
rs199937112
|
|
NM_025114.4(CEP290):c.4443A>G (p.Leu1481=)
|
rs2036459644
|
|
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs)
|
rs780624853
|
|
NM_025114.4(CEP290):c.4510G>A (p.Glu1504Lys)
|
rs886043748
|
|
NM_025114.4(CEP290):c.4578G>A (p.Glu1526=)
|
rs775294433
|
|
NM_025114.4(CEP290):c.4636C>T (p.Gln1546Ter)
|
|
|
NM_025114.4(CEP290):c.4654_4659del (p.Lys1552_Glu1553del)
|
rs1555207186
|
|
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del)
|
rs757309583
|
|
NM_025114.4(CEP290):c.4656del (p.Glu1553fs)
|
rs62640572
|
|
NM_025114.4(CEP290):c.467A>G (p.Glu156Gly)
|
rs2138113947
|
|
NM_025114.4(CEP290):c.4682G>A (p.Arg1561His)
|
rs371157150
|
|
NM_025114.4(CEP290):c.4704+1G>T
|
rs1565835538
|
|
NM_025114.4(CEP290):c.4704+264del
|
rs5799853
|
|
NM_025114.4(CEP290):c.4704+46del
|
rs11356711
|
|
NM_025114.4(CEP290):c.4711A>G (p.Arg1571Gly)
|
|
|
NM_025114.4(CEP290):c.4714G>T (p.Glu1572Ter)
|
rs1292516576
|
|
NM_025114.4(CEP290):c.4732G>T (p.Glu1578Ter)
|
rs62640573
|
|
NM_025114.4(CEP290):c.473A>G (p.Glu158Gly)
|
|
|
NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter)
|
rs62640574
|
|
NM_025114.4(CEP290):c.4864C>T (p.Arg1622Cys)
|
|
|
NM_025114.4(CEP290):c.4960C>T (p.Gln1654Ter)
|
rs1226324483
|
|
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs)
|
rs764309755
|
|
NM_025114.4(CEP290):c.4997A>G (p.Glu1666Gly)
|
rs566018288
|
|
NM_025114.4(CEP290):c.502C>T (p.Arg168Cys)
|
rs760856790
|
|
NM_025114.4(CEP290):c.5075A>G (p.Tyr1692Cys)
|
rs1565827486
|
|
NM_025114.4(CEP290):c.5104_5105del (p.Gln1702fs)
|
rs766259648
|
|
NM_025114.4(CEP290):c.5145T>G (p.Asn1715Lys)
|
rs568619750
|
|
NM_025114.4(CEP290):c.517-55G>A
|
rs7309960
|
|
NM_025114.4(CEP290):c.5203G>A (p.Ala1735Thr)
|
rs2036093152
|
|
NM_025114.4(CEP290):c.5226+134T>C
|
rs2468246
|
|
NM_025114.4(CEP290):c.5227-115_5227-113del
|
rs150619947
|
|
NM_025114.4(CEP290):c.5254C>T (p.Arg1752Trp)
|
rs748471942
|
|
NM_025114.4(CEP290):c.5424T>C (p.Ser1808=)
|
rs62640575
|
|
NM_025114.4(CEP290):c.5434_5435del (p.Glu1812fs)
|
rs757609119
|
|
NM_025114.4(CEP290):c.5445_5448del (p.Thr1816fs)
|
rs749331348
|
|
NM_025114.4(CEP290):c.5493del (p.Ala1832fs)
|
rs386834158
|
|
NM_025114.4(CEP290):c.5515_5518del (p.Glu1839fs)
|
rs281865187
|
|
NM_025114.4(CEP290):c.5580del (p.Leu1861fs)
|
rs1592807018
|
|
NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs)
|
rs727503853
|
|
NM_025114.4(CEP290):c.5649dup (p.Leu1884fs)
|
rs281865188
|
|
NM_025114.4(CEP290):c.5709+45G>C
|
rs45477793
|
|
NM_025114.4(CEP290):c.5740G>T (p.Glu1914Ter)
|
rs2035405646
|
|
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter)
|
rs561598805
|
|
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter)
|
rs886042360
|
|
NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs)
|
rs62638180
|
|
NM_025114.4(CEP290):c.5824C>T (p.Gln1942Ter)
|
|
|
NM_025114.4(CEP290):c.5835T>C (p.Thr1945=)
|
|
|
NM_025114.4(CEP290):c.5973G>C (p.Lys1991Asn)
|
rs1064795773
|
|
NM_025114.4(CEP290):c.6135+2T>A
|
rs1555200648
|
|
NM_025114.4(CEP290):c.6136-182dup
|
rs11426323
|
|
NM_025114.4(CEP290):c.6230T>C (p.Phe2077Ser)
|
rs2136813103
|
|
NM_025114.4(CEP290):c.6245C>T (p.Ala2082Val)
|
rs767592034
|
|
NM_025114.4(CEP290):c.628A>T (p.Lys210Ter)
|
rs763473957
|
|
NM_025114.4(CEP290):c.6364A>T (p.Arg2122Ter)
|
rs1555197766
|
|
NM_025114.4(CEP290):c.63A>G (p.Gln21=)
|
|
|
NM_025114.4(CEP290):c.6444T>A (p.Asn2148Lys)
|
rs368101871
|
|
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs)
|
rs1364945778
|
|
NM_025114.4(CEP290):c.6469A>G (p.Ile2157Val)
|
rs2136749270
|
|
NM_025114.4(CEP290):c.6516del (p.Lys2172fs)
|
rs1057519165
|
|
NM_025114.4(CEP290):c.6522+5dup
|
rs11405846
|
|
NM_025114.4(CEP290):c.6522+75G>A
|
rs2136746324
|
|
NM_025114.4(CEP290):c.654T>G (p.Tyr218Ter)
|
rs863225185
|
|
NM_025114.4(CEP290):c.6604del (p.Ile2202fs)
|
rs758329611
|
|
NM_025114.4(CEP290):c.6640A>T (p.Lys2214Ter)
|
|
|
NM_025114.4(CEP290):c.670-13_670-12del
|
rs941686794
|
|
NM_025114.4(CEP290):c.6764G>A (p.Gly2255Asp)
|
rs377561473
|
|
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.6919_6920dup (p.Gln2308fs)
|
rs1177923180
|
|
NM_025114.4(CEP290):c.6929T>A (p.Val2310Asp)
|
|
|
NM_025114.4(CEP290):c.6960+10G>C
|
rs75011402
|
|
NM_025114.4(CEP290):c.7034+272C>A
|
rs7980746
|
|
NM_025114.4(CEP290):c.7034+41dup
|
rs201140440
|
|
NM_025114.4(CEP290):c.7048C>A (p.Gln2350Lys)
|
rs375548374
|
|
NM_025114.4(CEP290):c.7062_7063del (p.Lys2355fs)
|
rs886042734
|
|
NM_025114.4(CEP290):c.7129+73del
|
rs372674637
|
|
NM_025114.4(CEP290):c.712G>T (p.Glu238Ter)
|
rs2138086844
|
|
NM_025114.4(CEP290):c.7133C>G (p.Ala2378Gly)
|
rs1565777729
|
|
NM_025114.4(CEP290):c.7198_7209del (p.Gln2400_Lys2403del)
|
|
|
NM_025114.4(CEP290):c.7209+7T>G
|
rs745813087
|
|
NM_025114.4(CEP290):c.739G>C (p.Val247Leu)
|
|
|
NM_025114.4(CEP290):c.739_740del (p.Val247fs)
|
rs1592671618
|
|
NM_025114.4(CEP290):c.823A>C (p.Lys275Gln)
|
|
|
NM_025114.4(CEP290):c.828del (p.Glu277fs)
|
rs1555225566
|
|
NM_025114.4(CEP290):c.852+3A>G
|
rs1555225551
|
|
NM_025114.4(CEP290):c.852+73A>G
|
rs61265751
|
|
NM_025114.4(CEP290):c.853-127_853-125dup
|
rs71082426
|
|
NM_025114.4(CEP290):c.895G>A (p.Asp299Asn)
|
|
|
NM_025114.4(CEP290):c.916G>A (p.Val306Ile)
|
rs558949569
|
|
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu)
|
rs774072453
|
|
NM_025114.4(CEP290):c.970A>G (p.Ile324Val)
|
rs1555224610
|
|