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.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.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.1298A>G (p.Asp433Gly)
|
rs200211587
|
0.00146
|
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)
|
rs201838492
|
0.00133
|
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.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.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.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.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.503G>A (p.Arg168His)
|
rs200063017
|
0.00029
|
NM_025114.3(CEP290):c.-295T>C
|
rs374616539
|
0.00026
|
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.3574-15T>A
|
rs565414938
|
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.-147A>T
|
rs753567406
|
0.00019
|
NM_025114.4(CEP290):c.384T>C (p.Asp128=)
|
rs76267039
|
0.00017
|
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.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.31A>G (p.Met11Val)
|
rs185939120
|
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.5284C>T (p.Arg1762Cys)
|
rs373307908
|
0.00010
|
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.5421A>G (p.Thr1807=)
|
rs370464321
|
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.-41C>T
|
rs759820573
|
0.00006
|
NM_025114.4(CEP290):c.2616G>A (p.Ser872=)
|
rs776360559
|
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.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.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.2638G>T (p.Ala880Ser)
|
rs147362398
|
0.00005
|
NM_025114.4(CEP290):c.5127G>T (p.Gln1709His)
|
rs757738553
|
0.00005
|
NM_025114.4(CEP290):c.-96C>T
|
rs528270888
|
0.00004
|
NM_025114.4(CEP290):c.3230A>G (p.Gln1077Arg)
|
rs200668620
|
0.00004
|
NM_025114.4(CEP290):c.4064G>A (p.Arg1355His)
|
rs548558619
|
0.00004
|
NM_025114.4(CEP290):c.4151G>A (p.Arg1384His)
|
rs143152287
|
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.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.1359G>A (p.Ser453=)
|
rs779195306
|
0.00003
|
NM_025114.4(CEP290):c.2267C>T (p.Ser756Leu)
|
rs761111801
|
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.5344C>T (p.Arg1782Ter)
|
rs575767207
|
0.00003
|
NM_025114.4(CEP290):c.5745dup (p.Lys1916Ter)
|
rs751361090
|
0.00003
|
NM_025114.4(CEP290):c.6870T>C (p.Asn2290=)
|
rs572443869
|
0.00003
|
NM_025114.4(CEP290):c.7048C>T (p.Gln2350Ter)
|
rs375548374
|
0.00003
|
NM_025114.4(CEP290):c.7126C>T (p.Pro2376Ser)
|
rs754462052
|
0.00003
|
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.1549T>C (p.Leu517=)
|
rs752942122
|
0.00002
|
NM_025114.4(CEP290):c.2249T>G (p.Leu750Ter)
|
rs137852833
|
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.4293G>A (p.Ala1431=)
|
rs377614744
|
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.5285G>A (p.Arg1762His)
|
rs761763799
|
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.6798G>A (p.Trp2266Ter)
|
rs760540562
|
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.1190-2A>G
|
rs200818935
|
0.00001
|
NM_025114.4(CEP290):c.1345A>G (p.Lys449Glu)
|
rs747463477
|
0.00001
|
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter)
|
rs1170451277
|
0.00001
|
NM_025114.4(CEP290):c.1593C>A (p.Tyr531Ter)
|
rs763559949
|
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.1711+1G>A
|
rs587783009
|
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.1936C>T (p.Gln646Ter)
|
rs780225183
|
0.00001
|
NM_025114.4(CEP290):c.2216A>T (p.Lys739Met)
|
rs1378036383
|
0.00001
|
NM_025114.4(CEP290):c.2348A>G (p.Tyr783Cys)
|
rs780990839
|
0.00001
|
NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro)
|
rs762633090
|
0.00001
|
NM_025114.4(CEP290):c.274A>G (p.Met92Val)
|
rs951351175
|
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.297+1G>T
|
rs878853360
|
0.00001
|
NM_025114.4(CEP290):c.307C>T (p.Gln103Ter)
|
rs752144368
|
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.3185del (p.Leu1062fs)
|
rs863225189
|
0.00001
|
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter)
|
rs1290241933
|
0.00001
|
NM_025114.4(CEP290):c.3309+2T>C
|
rs1007902545
|
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.3802C>T (p.Gln1268Ter)
|
rs1468942944
|
0.00001
|
NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter)
|
rs1412133967
|
0.00001
|
NM_025114.4(CEP290):c.4177A>G (p.Ile1393Val)
|
rs2036709987
|
0.00001
|
NM_025114.4(CEP290):c.4257C>A (p.Asp1419Glu)
|
rs771898047
|
0.00001
|
NM_025114.4(CEP290):c.437del (p.Glu146fs)
|
rs1452465499
|
0.00001
|
NM_025114.4(CEP290):c.4485A>G (p.Ile1495Met)
|
rs1328019408
|
0.00001
|
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter)
|
rs757641323
|
0.00001
|
NM_025114.4(CEP290):c.4651C>T (p.Gln1551Ter)
|
rs746305733
|
0.00001
|
NM_025114.4(CEP290):c.4705-1G>T
|
rs777464278
|
0.00001
|
NM_025114.4(CEP290):c.4854G>T (p.Lys1618Asn)
|
rs747852436
|
0.00001
|
NM_025114.4(CEP290):c.5012+2T>C
|
rs1369768287
|
0.00001
|
NM_025114.4(CEP290):c.5163del (p.Thr1722fs)
|
rs1565827171
|
0.00001
|
NM_025114.4(CEP290):c.5543A>G (p.Asp1848Gly)
|
rs563967678
|
0.00001
|
NM_025114.4(CEP290):c.5587-1G>C
|
rs968692633
|
0.00001
|
NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu)
|
rs746949236
|
0.00001
|
NM_025114.4(CEP290):c.5932C>T (p.Arg1978Ter)
|
rs371525247
|
0.00001
|
NM_025114.4(CEP290):c.5941G>T (p.Glu1981Ter)
|
rs767426153
|
0.00001
|
NM_025114.4(CEP290):c.6012-2A>G
|
rs555755221
|
0.00001
|
NM_025114.4(CEP290):c.6031C>T (p.Arg2011Ter)
|
rs750073051
|
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.634A>T (p.Asn212Tyr)
|
rs527704077
|
0.00001
|
NM_025114.4(CEP290):c.6358-1G>A
|
rs766670248
|
0.00001
|
NM_025114.4(CEP290):c.6493A>T (p.Asn2165Tyr)
|
rs769886105
|
0.00001
|
NM_025114.4(CEP290):c.6703G>T (p.Glu2235Ter)
|
rs1375836634
|
0.00001
|
NM_025114.4(CEP290):c.-118C>G
|
rs886049887
|
|
NM_025114.4(CEP290):c.-208C>T
|
rs551070690
|
|
NM_025114.4(CEP290):c.102+2T>A
|
|
|
NM_025114.4(CEP290):c.102+2T>G
|
rs763226787
|
|
NM_025114.4(CEP290):c.1039A>T (p.Lys347Ter)
|
|
|
NM_025114.4(CEP290):c.1060C>T (p.Gln354Ter)
|
rs2138021345
|
|
NM_025114.4(CEP290):c.1142A>G (p.Asn381Ser)
|
rs1295338042
|
|
NM_025114.4(CEP290):c.1169dup (p.Asn390fs)
|
|
|
NM_025114.4(CEP290):c.1171G>T (p.Glu391Ter)
|
|
|
NM_025114.4(CEP290):c.1189+1G>A
|
rs2039659434
|
|
NM_025114.4(CEP290):c.1189+2T>C
|
|
|
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)
|
rs386834148
|
|
NM_025114.4(CEP290):c.1225del (p.Ile409fs)
|
rs1287628446
|
|
NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs)
|
rs897997464
|
|
NM_025114.4(CEP290):c.1258dup (p.Thr420fs)
|
rs868650061
|
|
NM_025114.4(CEP290):c.1347dup (p.Asp450fs)
|
rs774490795
|
|
NM_025114.4(CEP290):c.1359+1G>A
|
rs935130451
|
|
NM_025114.4(CEP290):c.1390G>T (p.Glu464Ter)
|
rs1437841365
|
|
NM_025114.4(CEP290):c.1397_1400del (p.Lys466fs)
|
|
|
NM_025114.4(CEP290):c.1419_1423del (p.Ile474fs)
|
rs771266705
|
|
NM_025114.4(CEP290):c.1439_1450delinsG (p.Glu480fs)
|
|
|
NM_025114.4(CEP290):c.1451del (p.Lys484fs)
|
rs386834149
|
|
NM_025114.4(CEP290):c.1453dup (p.Glu485fs)
|
|
|
NM_025114.4(CEP290):c.1471_1475del (p.Leu491fs)
|
|
|
NM_025114.4(CEP290):c.1495G>T (p.Glu499Ter)
|
|
|
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.1516del (p.Arg506fs)
|
|
|
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+1G>A
|
rs863225186
|
|
NM_025114.4(CEP290):c.164_167del (p.Thr55fs)
|
rs758550675
|
|
NM_025114.4(CEP290):c.1657A>T (p.Lys553Ter)
|
|
|
NM_025114.4(CEP290):c.1666del (p.Ile556fs)
|
rs727503855
|
|
NM_025114.4(CEP290):c.1666dup (p.Ile556fs)
|
rs727503855
|
|
NM_025114.4(CEP290):c.1668del (p.Arg557fs)
|
rs2039204524
|
|
NM_025114.4(CEP290):c.1709C>G (p.Ser570Ter)
|
rs1272411609
|
|
NM_025114.4(CEP290):c.180+1G>T
|
|
|
NM_025114.4(CEP290):c.1824+1G>A
|
|
|
NM_025114.4(CEP290):c.1830del (p.Glu610fs)
|
rs992032116
|
|
NM_025114.4(CEP290):c.1835_1838del (p.Leu612fs)
|
|
|
NM_025114.4(CEP290):c.1860_1863del (p.Arg621fs)
|
rs766608755
|
|
NM_025114.4(CEP290):c.1864_1865del (p.Asp622fs)
|
rs1033594764
|
|
NM_025114.4(CEP290):c.1909+1G>T
|
|
|
NM_025114.4(CEP290):c.1910-11T>G
|
rs1555220638
|
|
NM_025114.4(CEP290):c.1914del (p.Glu639fs)
|
|
|
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.1987A>T (p.Lys663Ter)
|
rs2038919221
|
|
NM_025114.4(CEP290):c.1992del (p.Pro665fs)
|
rs770175184
|
|
NM_025114.4(CEP290):c.2052+1_2052+2del
|
rs747835249
|
|
NM_025114.4(CEP290):c.2053-22A>G
|
|
|
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly)
|
rs200454865
|
|
NM_025114.4(CEP290):c.2112del (p.Val705fs)
|
rs863225183
|
|
NM_025114.4(CEP290):c.2140G>T (p.Glu714Ter)
|
rs1440259390
|
|
NM_025114.4(CEP290):c.2144T>G (p.Leu715Ter)
|
|
|
NM_025114.4(CEP290):c.2176del (p.Ala726fs)
|
|
|
NM_025114.4(CEP290):c.2213del (p.Asn737_Leu738insTer)
|
rs2137720951
|
|
NM_025114.4(CEP290):c.2217+2T>C
|
rs2038702746
|
|
NM_025114.4(CEP290):c.2217+2T>G
|
|
|
NM_025114.4(CEP290):c.2217+3G>A
|
rs765291878
|
|
NM_025114.4(CEP290):c.2218-2A>G
|
|
|
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.2268A>G (p.Ser756=)
|
rs2468255
|
|
NM_025114.4(CEP290):c.2304del (p.Gly768_Ile769insTer)
|
|
|
NM_025114.4(CEP290):c.2355dup (p.His786fs)
|
|
|
NM_025114.4(CEP290):c.2389_2390del (p.Lys797fs)
|
|
|
NM_025114.4(CEP290):c.2390del (p.Lys797fs)
|
rs781670422
|
|
NM_025114.4(CEP290):c.2404_2433delinsAC (p.Glu802fs)
|
|
|
NM_025114.4(CEP290):c.2433del (p.Lys811fs)
|
rs2137663442
|
|
NM_025114.4(CEP290):c.2478C>G (p.Tyr826Ter)
|
|
|
NM_025114.4(CEP290):c.2506_2507del (p.Glu836fs)
|
rs1223251937
|
|
NM_025114.4(CEP290):c.2510del (p.Ser837fs)
|
|
|
NM_025114.4(CEP290):c.2569A>T (p.Lys857Ter)
|
|
|
NM_025114.4(CEP290):c.2586+1G>A
|
|
|
NM_025114.4(CEP290):c.2587-1G>T
|
|
|
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs)
|
rs1221464366
|
|
NM_025114.4(CEP290):c.2632del (p.Ile878fs)
|
rs1404507934
|
|
NM_025114.4(CEP290):c.2632dup (p.Ile878fs)
|
|
|
NM_025114.4(CEP290):c.270_274del (p.Lys90fs)
|
|
|
NM_025114.4(CEP290):c.2794dup (p.Ile932fs)
|
|
|
NM_025114.4(CEP290):c.2869G>A (p.Val957Ile)
|
rs2038007630
|
|
NM_025114.4(CEP290):c.2887G>T (p.Glu963Ter)
|
rs1180594304
|
|
NM_025114.4(CEP290):c.292_293insA (p.Leu98fs)
|
rs2040497202
|
|
NM_025114.4(CEP290):c.2933del (p.Asp978fs)
|
|
|
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter)
|
rs1057518822
|
|
NM_025114.4(CEP290):c.2991+1G>A
|
|
|
NM_025114.4(CEP290):c.2992-1G>A
|
|
|
NM_025114.4(CEP290):c.3012del (p.Glu1005fs)
|
rs1555213204
|
|
NM_025114.4(CEP290):c.3104-2A>G
|
rs773386777
|
|
NM_025114.4(CEP290):c.3123dup (p.Lys1042Ter)
|
rs1555212271
|
|
NM_025114.4(CEP290):c.3152A>T (p.Asp1051Val)
|
rs2037238288
|
|
NM_025114.4(CEP290):c.3175del (p.Lys1058_Ile1059insTer)
|
rs62640570
|
|
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs)
|
rs62640570
|
|
NM_025114.4(CEP290):c.3187G>T (p.Glu1063Ter)
|
|
|
NM_025114.4(CEP290):c.3200T>G (p.Leu1067Ter)
|
|
|
NM_025114.4(CEP290):c.3234_3235del (p.Lys1078fs)
|
|
|
NM_025114.4(CEP290):c.3310-1G>A
|
|
|
NM_025114.4(CEP290):c.3418G>T (p.Glu1140Ter)
|
|
|
NM_025114.4(CEP290):c.3422dup (p.Leu1141fs)
|
rs770474857
|
|
NM_025114.4(CEP290):c.3493C>T (p.Gln1165Ter)
|
rs2036977924
|
|
NM_025114.4(CEP290):c.3574-9T>A
|
rs202038547
|
|
NM_025114.4(CEP290):c.3574-9del
|
rs10717563
|
|
NM_025114.4(CEP290):c.3581C>T (p.Ser1194Phe)
|
rs2036852568
|
|
NM_025114.4(CEP290):c.3596del (p.Leu1199fs)
|
|
|
NM_025114.4(CEP290):c.3606_3615del (p.Lys1202fs)
|
|
|
NM_025114.4(CEP290):c.369del (p.Gln123fs)
|
rs773622064
|
|
NM_025114.4(CEP290):c.3736G>T (p.Glu1246Ter)
|
|
|
NM_025114.4(CEP290):c.3739C>T (p.Gln1247Ter)
|
|
|
NM_025114.4(CEP290):c.3745_3748del (p.Leu1249fs)
|
rs2137276301
|
|
NM_025114.4(CEP290):c.3750_3753delinsA (p.Tyr1250_Tyr1251delinsTer)
|
|
|
NM_025114.4(CEP290):c.3762G>C (p.Leu1254Phe)
|
rs2036834615
|
|
NM_025114.4(CEP290):c.3783del (p.Lys1261fs)
|
rs2036833257
|
|
NM_025114.4(CEP290):c.3799del (p.Ile1267fs)
|
|
|
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)
|
rs62640581
|
|
NM_025114.4(CEP290):c.3825_3829del (p.Gly1276fs)
|
|
|
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.3894dup (p.Lys1299Ter)
|
rs761907569
|
|
NM_025114.4(CEP290):c.3897_3901del (p.Lys1299fs)
|
|
|
NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter)
|
rs587783016
|
|
NM_025114.4(CEP290):c.3917del (p.Asn1306fs)
|
|
|
NM_025114.4(CEP290):c.3925C>T (p.Gln1309Ter)
|
rs2036816455
|
|
NM_025114.4(CEP290):c.3950A>C (p.Lys1317Thr)
|
rs778137534
|
|
NM_025114.4(CEP290):c.3988G>T (p.Glu1330Ter)
|
|
|
NM_025114.4(CEP290):c.4028del (p.Lys1343fs)
|
rs1213286417
|
|
NM_025114.4(CEP290):c.4033del (p.Ile1345fs)
|
|
|
NM_025114.4(CEP290):c.4040G>A (p.Trp1347Ter)
|
rs1339975972
|
|
NM_025114.4(CEP290):c.4081_4084del (p.Leu1361fs)
|
|
|
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp)
|
rs181121175
|
|
NM_025114.4(CEP290):c.4115_4116del (p.Ile1372fs)
|
rs62640582
|
|
NM_025114.4(CEP290):c.4348_4356delinsTC (p.Pro1450fs)
|
|
|
NM_025114.4(CEP290):c.4384del (p.Glu1462fs)
|
rs863225182
|
|
NM_025114.4(CEP290):c.441+1G>C
|
|
|
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs)
|
rs780624853
|
|
NM_025114.4(CEP290):c.4555A>G (p.Ile1519Val)
|
rs200817579
|
|
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del)
|
rs757309583
|
|
NM_025114.4(CEP290):c.4704+1G>T
|
rs1565835538
|
|
NM_025114.4(CEP290):c.476del (p.Asn159fs)
|
|
|
NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter)
|
rs62640574
|
|
NM_025114.4(CEP290):c.4771del (p.Gln1591fs)
|
|
|
NM_025114.4(CEP290):c.4855dup (p.His1619fs)
|
|
|
NM_025114.4(CEP290):c.4864_4865delinsT (p.Arg1622fs)
|
rs2036318355
|
|
NM_025114.4(CEP290):c.4879G>T (p.Glu1627Ter)
|
|
|
NM_025114.4(CEP290):c.4897C>T (p.Gln1633Ter)
|
|
|
NM_025114.4(CEP290):c.4943C>G (p.Ser1648Ter)
|
|
|
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs)
|
rs764309755
|
|
NM_025114.4(CEP290):c.4985_4986del (p.Val1662fs)
|
rs2036306894
|
|
NM_025114.4(CEP290):c.5011C>T (p.Gln1671Ter)
|
|
|
NM_025114.4(CEP290):c.5012+1G>A
|
|
|
NM_025114.4(CEP290):c.5012+2T>G
|
|
|
NM_025114.4(CEP290):c.5023A>G (p.Asn1675Asp)
|
rs886049880
|
|
NM_025114.4(CEP290):c.5046del (p.Lys1682_Val1683insTer)
|
|
|
NM_025114.4(CEP290):c.5098G>T (p.Glu1700Ter)
|
|
|
NM_025114.4(CEP290):c.5099A>G (p.Glu1700Gly)
|
rs886049879
|
|
NM_025114.4(CEP290):c.5104_5105del (p.Gln1702fs)
|
rs766259648
|
|
NM_025114.4(CEP290):c.5136_5139del (p.Glu1713fs)
|
rs995093343
|
|
NM_025114.4(CEP290):c.5147C>A (p.Ser1716Ter)
|
|
|
NM_025114.4(CEP290):c.5192dup (p.Ser1732fs)
|
|
|
NM_025114.4(CEP290):c.5223_5224del (p.Lys1742fs)
|
|
|
NM_025114.4(CEP290):c.5226+5_5226+8del
|
rs1353301232
|
|
NM_025114.4(CEP290):c.5235_5238del (p.Ser1745fs)
|
rs775969711
|
|
NM_025114.4(CEP290):c.5242del (p.Leu1748fs)
|
|
|
NM_025114.4(CEP290):c.5254C>T (p.Arg1752Trp)
|
rs748471942
|
|
NM_025114.4(CEP290):c.532C>T (p.Gln178Ter)
|
rs2039993548
|
|
NM_025114.4(CEP290):c.5418_5422del (p.Lys1806_Thr1807insTer)
|
|
|
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.54G>A (p.Leu18=)
|
rs886049885
|
|
NM_025114.4(CEP290):c.54G>C (p.Leu18=)
|
rs886049885
|
|
NM_025114.4(CEP290):c.5515_5518del (p.Glu1839fs)
|
rs281865187
|
|
NM_025114.4(CEP290):c.5519_5537del (p.Lys1840fs)
|
|
|
NM_025114.4(CEP290):c.5587-8T>C
|
rs886049878
|
|
NM_025114.4(CEP290):c.5607T>C (p.Asn1869=)
|
rs777353443
|
|
NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs)
|
rs727503853
|
|
NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter)
|
rs267606719
|
|
NM_025114.4(CEP290):c.5709+2T>G
|
|
|
NM_025114.4(CEP290):c.5722G>T (p.Glu1908Ter)
|
|
|
NM_025114.4(CEP290):c.5728_5731del (p.Ile1910fs)
|
rs754728136
|
|
NM_025114.4(CEP290):c.574_577del (p.Glu192fs)
|
|
|
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter)
|
rs561598805
|
|
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro)
|
rs778030031
|
|
NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter)
|
rs1592784618
|
|
NM_025114.4(CEP290):c.5791_5794del (p.Glu1931fs)
|
rs2136964385
|
|
NM_025114.4(CEP290):c.5794A>T (p.Lys1932Ter)
|
|
|
NM_025114.4(CEP290):c.5798_5799del (p.Glu1933fs)
|
|
|
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.5822del (p.Lys1941fs)
|
|
|
NM_025114.4(CEP290):c.5824C>T (p.Gln1942Ter)
|
|
|
NM_025114.4(CEP290):c.5842G>T (p.Asp1948Tyr)
|
rs886049877
|
|
NM_025114.4(CEP290):c.584T>G (p.Leu195Ter)
|
|
|
NM_025114.4(CEP290):c.584del (p.Leu195fs)
|
rs1277316340
|
|
NM_025114.4(CEP290):c.5850del (p.Phe1950fs)
|
rs386834159
|
|
NM_025114.4(CEP290):c.5855+1G>A
|
|
|
NM_025114.4(CEP290):c.5855+2T>G
|
|
|
NM_025114.4(CEP290):c.5953del (p.Glu1985fs)
|
|
|
NM_025114.4(CEP290):c.5962G>T (p.Glu1988Ter)
|
rs2035358840
|
|
NM_025114.4(CEP290):c.5972del (p.Lys1991fs)
|
rs1468269366
|
|
NM_025114.4(CEP290):c.6011+2T>G
|
|
|
NM_025114.4(CEP290):c.6138_6139delinsC (p.Ser2047fs)
|
|
|
NM_025114.4(CEP290):c.6152C>G (p.Ser2051Ter)
|
|
|
NM_025114.4(CEP290):c.6226A>T (p.Lys2076Ter)
|
|
|
NM_025114.4(CEP290):c.6249dup (p.Lys2084Ter)
|
|
|
NM_025114.4(CEP290):c.626del (p.Ser209fs)
|
|
|
NM_025114.4(CEP290):c.6270+1G>T
|
|
|
NM_025114.4(CEP290):c.6270+2T>C
|
|
|
NM_025114.4(CEP290):c.635dup (p.Asn212fs)
|
rs769091629
|
|
NM_025114.4(CEP290):c.6364A>T (p.Arg2122Ter)
|
rs1555197766
|
|
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs)
|
rs1364945778
|
|
NM_025114.4(CEP290):c.6487dup (p.Met2163fs)
|
rs2136748724
|
|
NM_025114.4(CEP290):c.6490del (p.Ala2164fs)
|
|
|
NM_025114.4(CEP290):c.6516del (p.Lys2172fs)
|
rs1057519165
|
|
NM_025114.4(CEP290):c.6522+5dup
|
rs11405846
|
|
NM_025114.4(CEP290):c.6566G>T (p.Ser2189Ile)
|
rs2034338160
|
|
NM_025114.4(CEP290):c.6604del (p.Ile2202fs)
|
rs758329611
|
|
NM_025114.4(CEP290):c.6624del (p.Arg2208fs)
|
rs2136725569
|
|
NM_025114.4(CEP290):c.6634G>A (p.Glu2212Lys)
|
rs2034330893
|
|
NM_025114.4(CEP290):c.6640A>T (p.Lys2214Ter)
|
|
|
NM_025114.4(CEP290):c.6694A>G (p.Ile2232Val)
|
rs2034240720
|
|
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.6818_6818+1dup
|
rs1060499781
|
|
NM_025114.4(CEP290):c.6831del (p.Lys2278fs)
|
|
|
NM_025114.4(CEP290):c.6838A>T (p.Lys2280Ter)
|
|
|
NM_025114.4(CEP290):c.6869del (p.Asn2290fs)
|
rs587783017
|
|
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs)
|
rs587783017
|
|
NM_025114.4(CEP290):c.6871C>T (p.Gln2291Ter)
|
rs1592726020
|
|
NM_025114.4(CEP290):c.6892C>T (p.Gln2298Ter)
|
rs2033937635
|
|
NM_025114.4(CEP290):c.6917_6920del (p.Arg2306fs)
|
rs1177923180
|
|
NM_025114.4(CEP290):c.6919_6920del (p.Glu2307fs)
|
rs1177923180
|
|
NM_025114.4(CEP290):c.6927del (p.Val2310fs)
|
|
|
NM_025114.4(CEP290):c.6928dup (p.Val2310fs)
|
|
|
NM_025114.4(CEP290):c.6933del (p.Asn2311fs)
|
|
|
NM_025114.4(CEP290):c.7024C>T (p.Gln2342Ter)
|
|
|
NM_025114.4(CEP290):c.7027del (p.Val2343fs)
|
rs2033827549
|
|
NM_025114.4(CEP290):c.7081C>T (p.Gln2361Ter)
|
|
|
NM_025114.4(CEP290):c.712G>T (p.Glu238Ter)
|
rs2138086844
|
|
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer)
|
rs781310385
|
|
NM_025114.4(CEP290):c.7157_7158del (p.Lys2386fs)
|
|
|
NM_025114.4(CEP290):c.7162_7163del (p.Leu2388fs)
|
|
|
NM_025114.4(CEP290):c.7175_7176del (p.Leu2392fs)
|
|
|
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter)
|
rs1478582091
|
|
NM_025114.4(CEP290):c.7209+1G>A
|
|
|
NM_025114.4(CEP290):c.7209+7T>G
|
rs745813087
|
|
NM_025114.4(CEP290):c.828del (p.Glu277fs)
|
rs1555225566
|
|
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter)
|
rs45502896
|
|
NM_025114.4(CEP290):c.833del (p.Asn278fs)
|
|
|
NM_025114.4(CEP290):c.853-2A>G
|
|
|
NM_025114.4(CEP290):c.942+1G>C
|
rs2039897317
|
|
NM_025114.4(CEP290):c.942+6T>G
|
rs886049884
|
|
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu)
|
rs774072453
|
|