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.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.942+28T>C
|
rs56149649
|
0.04349
|
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp)
|
rs7970228
|
0.04262
|
NM_025114.4(CEP290):c.5709+25A>C
|
rs17015438
|
0.03950
|
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.297+36A>G
|
rs45468703
|
0.02898
|
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.2817+48A>G
|
rs76460170
|
0.01228
|
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.2217+45T>C
|
rs45461003
|
0.00636
|
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.2991+39A>G
|
rs147626659
|
0.00519
|
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.5322C>T (p.Leu1774=)
|
rs117370446
|
0.00329
|
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)
|
rs182369459
|
0.00241
|
NM_025114.4(CEP290):c.7034+40T>A
|
rs184044181
|
0.00232
|
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.2368-36T>G
|
rs547843877
|
0.00108
|
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=)
|
rs201614215
|
0.00091
|
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.5013-21A>G
|
rs368215443
|
0.00066
|
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.2306T>C (p.Ile769Thr)
|
rs199583200
|
0.00055
|
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.4813-2A>G
|
rs369523378
|
0.00046
|
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val)
|
rs201569048
|
0.00036
|
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_025114.4(CEP290):c.6078A>G (p.Gln2026=)
|
rs763570903
|
0.00029
|
NM_025114.4(CEP290):c.1742A>C (p.Glu581Ala)
|
rs77579747
|
0.00025
|
NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn)
|
rs201982308
|
0.00024
|
NM_025114.4(CEP290):c.4182G>A (p.Val1394=)
|
rs371530941
|
0.00024
|
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys)
|
rs374852145
|
0.00024
|
NM_025114.4(CEP290):c.2615C>T (p.Ser872Leu)
|
rs373341530
|
0.00023
|
NM_025114.4(CEP290):c.3787C>A (p.Leu1263Met)
|
rs370395204
|
0.00022
|
NM_025114.4(CEP290):c.6558T>G (p.His2186Gln)
|
rs772603458
|
0.00022
|
NM_025114.4(CEP290):c.3408A>G (p.Gln1136=)
|
rs11836796
|
0.00021
|
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.4555A>T (p.Ile1519Leu)
|
rs200817579
|
0.00016
|
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys)
|
rs202159966
|
0.00016
|
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.5338G>A (p.Val1780Ile)
|
rs368492668
|
0.00013
|
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)
|
rs200587974
|
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.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.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.6572A>T (p.His2191Leu)
|
rs368428115
|
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.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.4437+1G>A
|
rs760915898
|
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.4343C>G (p.Pro1448Arg)
|
rs757356455
|
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.-41C>T
|
rs759820573
|
0.00006
|
NM_025114.4(CEP290):c.1440A>G (p.Glu480=)
|
rs777299440
|
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.5227-9A>G
|
rs571981633
|
0.00006
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
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.755A>T (p.Lys252Met)
|
rs991079890
|
0.00006
|
NM_025114.4(CEP290):c.1105G>A (p.Glu369Lys)
|
rs373414042
|
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.6358-4G>A
|
rs369154492
|
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.2218A>G (p.Ile740Val)
|
rs754736974
|
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.4404A>G (p.Leu1468=)
|
rs779186037
|
0.00004
|
NM_025114.4(CEP290):c.4438-3del
|
rs747323414
|
0.00004
|
NM_025114.4(CEP290):c.4809T>C (p.Ala1603=)
|
rs372592245
|
0.00004
|
NM_025114.4(CEP290):c.5665G>C (p.Glu1889Gln)
|
rs186330724
|
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.814G>A (p.Asp272Asn)
|
rs866480852
|
0.00004
|
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.2367+4T>C
|
rs1413934261
|
0.00003
|
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)
|
rs886042153
|
0.00003
|
NM_025114.4(CEP290):c.3310-48C>A
|
rs764488172
|
0.00003
|
NM_025114.4(CEP290):c.3593C>T (p.Ser1198Leu)
|
rs372640024
|
0.00003
|
NM_025114.4(CEP290):c.4837C>G (p.Pro1613Ala)
|
rs769280708
|
0.00003
|
NM_025114.4(CEP290):c.5776C>A (p.Arg1926=)
|
rs561598805
|
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.1235C>T (p.Thr412Met)
|
rs189280108
|
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.1756G>A (p.Gly586Arg)
|
rs759047003
|
0.00002
|
NM_025114.4(CEP290):c.2060A>T (p.Glu687Val)
|
rs932362741
|
0.00002
|
NM_025114.4(CEP290):c.2211T>C (p.Asn737=)
|
rs763182158
|
0.00002
|
NM_025114.4(CEP290):c.3056A>G (p.Glu1019Gly)
|
rs746666486
|
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.4391T>C (p.Ile1464Thr)
|
rs761761702
|
0.00002
|
NM_025114.4(CEP290):c.5129C>T (p.Ala1710Val)
|
rs754184488
|
0.00002
|
NM_025114.4(CEP290):c.549C>T (p.Tyr183=)
|
rs781004914
|
0.00002
|
NM_025114.4(CEP290):c.6571C>G (p.His2191Asp)
|
rs769798212
|
0.00002
|
NM_025114.4(CEP290):c.996T>C (p.His332=)
|
rs746022535
|
0.00002
|
NM_025114.4(CEP290):c.-38G>C
|
rs886049886
|
0.00001
|
NM_025114.4(CEP290):c.1190-8C>T
|
rs764602507
|
0.00001
|
NM_025114.4(CEP290):c.1523-4G>A
|
rs746906765
|
0.00001
|
NM_025114.4(CEP290):c.1626T>G (p.Ile542Met)
|
rs762272190
|
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.181-9A>G
|
rs745494615
|
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+27T>C
|
rs748630707
|
0.00001
|
NM_025114.4(CEP290):c.2053-5G>T
|
rs764694042
|
0.00001
|
NM_025114.4(CEP290):c.2068A>C (p.Asn690His)
|
rs398124411
|
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.2320G>C (p.Ala774Pro)
|
rs777365811
|
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.2587-19T>C
|
rs755086278
|
0.00001
|
NM_025114.4(CEP290):c.2587-3C>T
|
rs759025964
|
0.00001
|
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe)
|
rs546463648
|
0.00001
|
NM_025114.4(CEP290):c.2T>A (p.Met1Lys)
|
rs368984997
|
0.00001
|
NM_025114.4(CEP290):c.3277C>T (p.Arg1093Cys)
|
rs778508890
|
0.00001
|
NM_025114.4(CEP290):c.3409C>T (p.Arg1137Trp)
|
rs759961956
|
0.00001
|
NM_025114.4(CEP290):c.3550A>C (p.Arg1184=)
|
rs1275942966
|
0.00001
|
NM_025114.4(CEP290):c.3561G>A (p.Leu1187=)
|
rs771857714
|
0.00001
|
NM_025114.4(CEP290):c.3757C>T (p.Arg1253Cys)
|
rs547677441
|
0.00001
|
NM_025114.4(CEP290):c.3826G>A (p.Gly1276Arg)
|
rs267603712
|
0.00001
|
NM_025114.4(CEP290):c.3858C>A (p.Phe1286Leu)
|
rs1353300022
|
0.00001
|
NM_025114.4(CEP290):c.3922C>T (p.Gln1308Ter)
|
rs1417251616
|
0.00001
|
NM_025114.4(CEP290):c.4045A>G (p.Met1349Val)
|
rs923112337
|
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.4365C>T (p.Ile1455=)
|
rs552731286
|
0.00001
|
NM_025114.4(CEP290):c.4518G>A (p.Arg1506=)
|
rs748296011
|
0.00001
|
NM_025114.4(CEP290):c.4705-1G>T
|
rs777464278
|
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.496-6C>T
|
rs776649058
|
0.00001
|
NM_025114.4(CEP290):c.5423G>A (p.Ser1808Asn)
|
rs763278328
|
0.00001
|
NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys)
|
rs562477272
|
0.00001
|
NM_025114.4(CEP290):c.6132T>G (p.Pro2044=)
|
rs765002773
|
0.00001
|
NM_025114.4(CEP290):c.669+8G>T
|
rs768408897
|
0.00001
|
NM_025114.4(CEP290):c.6818+5G>A
|
rs935214183
|
0.00001
|
NM_025114.4(CEP290):c.6948C>T (p.Asp2316=)
|
rs768771609
|
0.00001
|
NM_025114.4(CEP290):c.7104A>G (p.Gln2368=)
|
rs1176691356
|
0.00001
|
NM_025114.4(CEP290):c.103-30_103-24del
|
|
|
NM_025114.4(CEP290):c.104T>G (p.Val35Gly)
|
|
|
NM_025114.4(CEP290):c.1054G>T (p.Ala352Ser)
|
|
|
NM_025114.4(CEP290):c.1081G>T (p.Asp361Tyr)
|
|
|
NM_025114.4(CEP290):c.1103C>T (p.Thr368Ile)
|
|
|
NM_025114.4(CEP290):c.1122T>C (p.Tyr374=)
|
rs758472041
|
|
NM_025114.4(CEP290):c.1199C>T (p.Thr400Ile)
|
rs773578133
|
|
NM_025114.4(CEP290):c.1403G>A (p.Cys468Tyr)
|
|
|
NM_025114.4(CEP290):c.1554T>A (p.Thr518=)
|
|
|
NM_025114.4(CEP290):c.1666dup (p.Ile556fs)
|
rs727503855
|
|
NM_025114.4(CEP290):c.1712-4A>G
|
|
|
NM_025114.4(CEP290):c.1824+15dup
|
rs746448124
|
|
NM_025114.4(CEP290):c.1825-17CT[2]
|
rs367600498
|
|
NM_025114.4(CEP290):c.1830A>G (p.Glu610=)
|
rs2038962868
|
|
NM_025114.4(CEP290):c.1910-10_1910-9del
|
rs773520477
|
|
NM_025114.4(CEP290):c.2052+30del
|
rs11358611
|
|
NM_025114.4(CEP290):c.2067G>A (p.Lys689=)
|
rs1425613490
|
|
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly)
|
rs200454865
|
|
NM_025114.4(CEP290):c.2213del (p.Asn737_Leu738insTer)
|
rs2137720951
|
|
NM_025114.4(CEP290):c.2252G>A (p.Arg751Gln)
|
rs1360220092
|
|
NM_025114.4(CEP290):c.2279T>C (p.Phe760Ser)
|
rs1488946278
|
|
NM_025114.4(CEP290):c.2317A>T (p.Ser773Cys)
|
rs748976722
|
|
NM_025114.4(CEP290):c.2390del (p.Lys797fs)
|
rs781670422
|
|
NM_025114.4(CEP290):c.2483+7G>T
|
rs886038692
|
|
NM_025114.4(CEP290):c.2484-18GTTTT[4]
|
rs745522483
|
|
NM_025114.4(CEP290):c.2484-8G>T
|
|
|
NM_025114.4(CEP290):c.250+10T>C
|
rs1317384355
|
|
NM_025114.4(CEP290):c.250+28G>C
|
rs886038693
|
|
NM_025114.4(CEP290):c.2506_2507del (p.Glu836fs)
|
rs1223251937
|
|
NM_025114.4(CEP290):c.251-19dup
|
rs752284551
|
|
NM_025114.4(CEP290):c.2554C>A (p.Gln852Lys)
|
rs886038694
|
|
NM_025114.4(CEP290):c.2586T>C (p.Asn862=)
|
rs886038695
|
|
NM_025114.4(CEP290):c.2632del (p.Ile878fs)
|
rs1404507934
|
|
NM_025114.4(CEP290):c.2723G>A (p.Arg908Gln)
|
|
|
NM_025114.4(CEP290):c.298-10T>C
|
|
|
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.3375T>A (p.Ser1125Arg)
|
|
|
NM_025114.4(CEP290):c.3378G>A (p.Val1126=)
|
rs546939043
|
|
NM_025114.4(CEP290):c.3514CAA[2] (p.Gln1174del)
|
rs749010290
|
|
NM_025114.4(CEP290):c.3517C>A (p.Gln1173Lys)
|
|
|
NM_025114.4(CEP290):c.3573+7G>T
|
rs2137301511
|
|
NM_025114.4(CEP290):c.3574-9del
|
rs10717563
|
|
NM_025114.4(CEP290):c.3633A>G (p.Gln1211=)
|
|
|
NM_025114.4(CEP290):c.3634C>A (p.Leu1212Met)
|
|
|
NM_025114.4(CEP290):c.3670A>G (p.Ile1224Val)
|
|
|
NM_025114.4(CEP290):c.3785A>T (p.His1262Leu)
|
|
|
NM_025114.4(CEP290):c.3808C>G (p.Leu1270Val)
|
|
|
NM_025114.4(CEP290):c.382G>C (p.Asp128His)
|
|
|
NM_025114.4(CEP290):c.384_387del (p.Asp128fs)
|
rs386834157
|
|
NM_025114.4(CEP290):c.4050A>C (p.Lys1350Asn)
|
|
|
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp)
|
rs181121175
|
|
NM_025114.4(CEP290):c.4088G>T (p.Arg1363Leu)
|
|
|
NM_025114.4(CEP290):c.4194+8T>G
|
|
|
NM_025114.4(CEP290):c.4271A>C (p.Gln1424Pro)
|
|
|
NM_025114.4(CEP290):c.4302+15T>C
|
rs886038696
|
|
NM_025114.4(CEP290):c.4303-7T>C
|
|
|
NM_025114.4(CEP290):c.4343C>T (p.Pro1448Leu)
|
|
|
NM_025114.4(CEP290):c.4356A>G (p.Gln1452=)
|
|
|
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs)
|
rs780624853
|
|
NM_025114.4(CEP290):c.4631A>T (p.Asn1544Ile)
|
|
|
NM_025114.4(CEP290):c.4661A>T (p.Glu1554Val)
|
|
|
NM_025114.4(CEP290):c.4677T>C (p.Tyr1559=)
|
rs2137182509
|
|
NM_025114.4(CEP290):c.4682G>A (p.Arg1561His)
|
rs371157150
|
|
NM_025114.4(CEP290):c.4704+46del
|
rs11356711
|
|
NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter)
|
rs62640574
|
|
NM_025114.4(CEP290):c.4832C>T (p.Pro1611Leu)
|
|
|
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs)
|
rs764309755
|
|
NM_025114.4(CEP290):c.5056G>C (p.Glu1686Gln)
|
|
|
NM_025114.4(CEP290):c.5226+6T>G
|
|
|
NM_025114.4(CEP290):c.5226+6_5226+7insGG
|
|
|
NM_025114.4(CEP290):c.5226+7_5226+8insC
|
|
|
NM_025114.4(CEP290):c.5228C>T (p.Ala1743Val)
|
rs951910051
|
|
NM_025114.4(CEP290):c.5677G>A (p.Glu1893Lys)
|
|
|
NM_025114.4(CEP290):c.5709+45G>C
|
rs45477793
|
|
NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs)
|
rs62638180
|
|
NM_025114.4(CEP290):c.5953G>T (p.Glu1985Ter)
|
|
|
NM_025114.4(CEP290):c.5997T>C (p.Asp1999=)
|
|
|
NM_025114.4(CEP290):c.6012-10T>A
|
|
|
NM_025114.4(CEP290):c.6012-5C>A
|
|
|
NM_025114.4(CEP290):c.6037T>G (p.Ser2013Ala)
|
rs2136913105
|
|
NM_025114.4(CEP290):c.6141A>G (p.Ser2047=)
|
rs779553989
|
|
NM_025114.4(CEP290):c.614G>A (p.Arg205Gln)
|
|
|
NM_025114.4(CEP290):c.6162T>C (p.His2054=)
|
rs867670449
|
|
NM_025114.4(CEP290):c.6369T>G (p.Ser2123Arg)
|
|
|
NM_025114.4(CEP290):c.6445G>A (p.Glu2149Lys)
|
|
|
NM_025114.4(CEP290):c.6452T>G (p.Leu2151Trp)
|
rs191613017
|
|
NM_025114.4(CEP290):c.64GAA[1] (p.Glu23del)
|
rs780211907
|
|
NM_025114.4(CEP290):c.6522+5dup
|
rs11405846
|
|
NM_025114.4(CEP290):c.6538C>G (p.Leu2180Val)
|
|
|
NM_025114.4(CEP290):c.6604del (p.Ile2202fs)
|
rs758329611
|
|
NM_025114.4(CEP290):c.6684T>G (p.Asn2228Lys)
|
|
|
NM_025114.4(CEP290):c.6819-34G>T
|
rs750838874
|
|
NM_025114.4(CEP290):c.6857T>C (p.Ile2286Thr)
|
|
|
NM_025114.4(CEP290):c.6893A>G (p.Gln2298Arg)
|
rs1337960015
|
|
NM_025114.4(CEP290):c.6961-1G>T
|
rs2136637204
|
|
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer)
|
rs781310385
|
|
NM_025114.4(CEP290):c.739G>T (p.Val247Leu)
|
|
|
NM_025114.4(CEP290):c.76G>A (p.Asp26Asn)
|
|
|
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu)
|
rs774072453
|
|