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.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.1991A>G (p.Asp664Gly)
|
rs79705698
|
0.02050
|
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.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.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.6645+211C>T
|
rs142591645
|
0.00815
|
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.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.7186G>T (p.Asp2396Tyr)
|
rs189556433
|
0.00058
|
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)
|
rs201988582
|
0.00054
|
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.6452T>C (p.Leu2151Ser)
|
rs191613017
|
0.00032
|
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.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.6629G>A (p.Arg2210His)
|
rs371833544
|
0.00011
|
NM_025114.4(CEP290):c.4438-13T>C
|
rs528298900
|
0.00010
|
NM_025114.4(CEP290):c.1825-8T>G
|
rs769405843
|
0.00009
|
NM_025114.4(CEP290):c.3273G>A (p.Glu1091=)
|
rs771584252
|
0.00004
|
NM_025114.4(CEP290):c.5665G>C (p.Glu1889Gln)
|
rs186330724
|
0.00004
|
NM_025114.4(CEP290):c.4438-7A>G
|
rs764079476
|
0.00003
|
NM_025114.4(CEP290):c.5112A>G (p.Leu1704=)
|
rs758459529
|
0.00002
|
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.1824+15T>C
|
rs999848467
|
0.00001
|
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile)
|
rs764963626
|
0.00001
|
NM_025114.4(CEP290):c.2778T>C (p.Ala926=)
|
rs767032720
|
0.00001
|
NM_025114.4(CEP290):c.3976A>G (p.Lys1326Glu)
|
rs377156725
|
0.00001
|
NM_025114.4(CEP290):c.1199C>T (p.Thr400Ile)
|
rs773578133
|
|
NM_025114.4(CEP290):c.1360-250_1360-249del
|
rs536091919
|
|
NM_025114.4(CEP290):c.1522+58del
|
rs202232715
|
|
NM_025114.4(CEP290):c.1638G>A (p.Glu546=)
|
|
|
NM_025114.4(CEP290):c.1824+39dup
|
rs890305929
|
|
NM_025114.4(CEP290):c.1825-17CT[2]
|
rs367600498
|
|
NM_025114.4(CEP290):c.1825-715T>C
|
|
|
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly)
|
rs200454865
|
|
NM_025114.4(CEP290):c.2373A>G (p.Leu791=)
|
rs760126835
|
|
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.2574A>G (p.Val858=)
|
rs768235992
|
|
NM_025114.4(CEP290):c.2580A>G (p.Glu860=)
|
rs1592590783
|
|
NM_025114.4(CEP290):c.2991+1356_2991+1357del
|
rs762783922
|
|
NM_025114.4(CEP290):c.2991+1357del
|
rs762783922
|
|
NM_025114.4(CEP290):c.2992-322G>A
|
rs116110864
|
|
NM_025114.4(CEP290):c.3534G>A (p.Lys1178=)
|
rs756488924
|
|
NM_025114.4(CEP290):c.3574-257dup
|
rs1185071952
|
|
NM_025114.4(CEP290):c.3726T>G (p.Leu1242=)
|
rs1592856883
|
|
NM_025114.4(CEP290):c.39T>G (p.Val13=)
|
rs2040642206
|
|
NM_025114.4(CEP290):c.4195-215_4195-214insGATGGATGGATGGATA
|
rs770390958
|
|
NM_025114.4(CEP290):c.442-22dup
|
rs199511358
|
|
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.4578G>A (p.Glu1526=)
|
rs775294433
|
|
NM_025114.4(CEP290):c.517-55G>A
|
rs7309960
|
|
NM_025114.4(CEP290):c.5227-115_5227-113del
|
rs150619947
|
|
NM_025114.4(CEP290):c.5835T>C (p.Thr1945=)
|
|
|
NM_025114.4(CEP290):c.63A>G (p.Gln21=)
|
|
|
NM_025114.4(CEP290):c.670-13_670-12del
|
rs941686794
|
|