NM_025114.4(CEP290):c.942+28T>C
|
rs56149649
|
0.04349
|
NM_025114.4(CEP290):c.2368-37T>G
|
rs115837670
|
0.03623
|
NM_025114.4(CEP290):c.2217+45T>C
|
rs45461003
|
0.00636
|
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.2980G>A (p.Glu994Lys)
|
rs182369459
|
0.00241
|
NM_025114.4(CEP290):c.7034+40T>A
|
rs184044181
|
0.00232
|
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.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.503G>A (p.Arg168His)
|
rs200063017
|
0.00029
|
NM_025114.4(CEP290):c.6078A>G (p.Gln2026=)
|
rs763570903
|
0.00029
|
NM_025114.4(CEP290):c.4182G>A (p.Val1394=)
|
rs371530941
|
0.00024
|
NM_025114.4(CEP290):c.3408A>G (p.Gln1136=)
|
rs11836796
|
0.00021
|
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.671C>T (p.Thr224Ile)
|
rs200587974
|
0.00013
|
NM_025114.4(CEP290):c.1667T>A (p.Ile556Asn)
|
rs727503854
|
0.00012
|
NM_025114.4(CEP290):c.5521G>A (p.Glu1841Lys)
|
rs200158553
|
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.5164A>G (p.Thr1722Ala)
|
rs375817905
|
0.00010
|
NM_025114.4(CEP290):c.6005A>G (p.Tyr2002Cys)
|
rs573872325
|
0.00010
|
NM_025114.4(CEP290):c.5012+10C>T
|
rs191369238
|
0.00009
|
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.5227-9A>G
|
rs571981633
|
0.00006
|
NM_025114.4(CEP290):c.6358-5C>T
|
rs372986399
|
0.00006
|
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser)
|
rs147362398
|
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.4404A>G (p.Leu1468=)
|
rs779186037
|
0.00004
|
NM_025114.4(CEP290):c.4809T>C (p.Ala1603=)
|
rs372592245
|
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.1386C>T (p.Val462=)
|
rs886038689
|
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.3310-48C>A
|
rs764488172
|
0.00003
|
NM_025114.4(CEP290):c.5776C>A (p.Arg1926=)
|
rs561598805
|
0.00003
|
NM_025114.4(CEP290):c.2211T>C (p.Asn737=)
|
rs763182158
|
0.00002
|
NM_025114.4(CEP290):c.4293G>A (p.Ala1431=)
|
rs377614744
|
0.00002
|
NM_025114.4(CEP290):c.549C>T (p.Tyr183=)
|
rs781004914
|
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.1712-6A>G
|
rs1452155200
|
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.2587-19T>C
|
rs755086278
|
0.00001
|
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe)
|
rs546463648
|
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.4365C>T (p.Ile1455=)
|
rs552731286
|
0.00001
|
NM_025114.4(CEP290):c.4518G>A (p.Arg1506=)
|
rs748296011
|
0.00001
|
NM_025114.4(CEP290):c.496-6C>T
|
rs776649058
|
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.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.1122T>C (p.Tyr374=)
|
rs758472041
|
|
NM_025114.4(CEP290):c.1554T>A (p.Thr518=)
|
|
|
NM_025114.4(CEP290):c.1712-4A>G
|
|
|
NM_025114.4(CEP290):c.1824+15dup
|
rs746448124
|
|
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.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.251-19dup
|
rs752284551
|
|
NM_025114.4(CEP290):c.2586T>C (p.Asn862=)
|
rs886038695
|
|
NM_025114.4(CEP290):c.298-10T>C
|
|
|
NM_025114.4(CEP290):c.3378G>A (p.Val1126=)
|
rs546939043
|
|
NM_025114.4(CEP290):c.3573+7G>T
|
rs2137301511
|
|
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp)
|
rs181121175
|
|
NM_025114.4(CEP290):c.4194+8T>G
|
|
|
NM_025114.4(CEP290):c.4302+15T>C
|
rs886038696
|
|
NM_025114.4(CEP290):c.4303-7T>C
|
|
|
NM_025114.4(CEP290):c.4677T>C (p.Tyr1559=)
|
rs2137182509
|
|
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.5997T>C (p.Asp1999=)
|
|
|
NM_025114.4(CEP290):c.6012-5C>A
|
|
|
NM_025114.4(CEP290):c.6141A>G (p.Ser2047=)
|
rs779553989
|
|
NM_025114.4(CEP290):c.6162T>C (p.His2054=)
|
rs867670449
|
|
NM_025114.4(CEP290):c.6819-34G>T
|
rs750838874
|
|