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.251-11T>A
|
rs200666995
|
0.00198
|
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)
|
rs139998038
|
0.00187
|
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn)
|
rs184143186
|
0.00138
|
NM_025114.4(CEP290):c.1716A>G (p.Leu572=)
|
rs372349042
|
0.00107
|
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.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.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.5185C>T (p.Arg1729Trp)
|
rs201353893
|
0.00031
|
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg)
|
rs201504946
|
0.00030
|
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.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.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.5164A>G (p.Thr1722Ala)
|
rs375817905
|
0.00010
|
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys)
|
rs373307908
|
0.00010
|
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.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.6023C>T (p.Ala2008Val)
|
rs376307540
|
0.00006
|
NM_025114.4(CEP290):c.6645+1G>A
|
rs201218801
|
0.00006
|
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.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.4523G>A (p.Arg1508Gln)
|
rs568197175
|
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.3593C>T (p.Ser1198Leu)
|
rs372640024
|
0.00003
|
NM_025114.4(CEP290):c.4195-9T>C
|
rs546957016
|
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.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.7070A>G (p.Glu2357Gly)
|
rs759725378
|
0.00003
|
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.5013-7A>C
|
rs762217156
|
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.739G>A (p.Val247Ile)
|
rs1409885182
|
0.00002
|
NM_025114.4(CEP290):c.1214C>T (p.Thr405Ile)
|
rs781183605
|
0.00001
|
NM_025114.4(CEP290):c.1517G>A (p.Arg506His)
|
rs866571949
|
0.00001
|
NM_025114.4(CEP290):c.192A>C (p.Gln64His)
|
rs965922201
|
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.2772G>A (p.Met924Ile)
|
rs1000757966
|
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.3826G>A (p.Gly1276Arg)
|
rs267603712
|
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.4736A>T (p.Glu1579Val)
|
rs760059883
|
0.00001
|
NM_025114.4(CEP290):c.4C>T (p.Pro2Ser)
|
rs1064795491
|
0.00001
|
NM_025114.4(CEP290):c.50A>C (p.Asp17Ala)
|
rs1182703361
|
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.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.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(chr12:88485224-88505633)x1
|
|
|
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.1392_1393insCTACTTA (p.Ile465fs)
|
rs1565900023
|
|
NM_025114.4(CEP290):c.1554T>A (p.Thr518=)
|
|
|
NM_025114.4(CEP290):c.1655T>C (p.Leu552Pro)
|
rs2039206485
|
|
NM_025114.4(CEP290):c.1676T>C (p.Met559Thr)
|
|
|
NM_025114.4(CEP290):c.180+196G>T
|
rs1029384340
|
|
NM_025114.4(CEP290):c.1858G>T (p.Glu620Ter)
|
rs1203763812
|
|
NM_025114.4(CEP290):c.1894A>G (p.Lys632Glu)
|
|
|
NM_025114.4(CEP290):c.1921G>C (p.Val641Leu)
|
rs886049883
|
|
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.2138A>G (p.Glu713Gly)
|
rs2137723121
|
|
NM_025114.4(CEP290):c.2191C>A (p.Gln731Lys)
|
rs767250881
|
|
NM_025114.4(CEP290):c.2484-18GTTTT[4]
|
rs745522483
|
|
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.2683T>C (p.Ser895Pro)
|
rs1555216720
|
|
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.2953A>G (p.Met985Val)
|
rs1160930595
|
|
NM_025114.4(CEP290):c.2992T>G (p.Cys998Gly)
|
rs2037480137
|
|
NM_025114.4(CEP290):c.3104-6A>G
|
|
|
NM_025114.4(CEP290):c.3107A>G (p.Asn1036Ser)
|
rs1064797172
|
|
NM_025114.4(CEP290):c.3162_3167del (p.Ile1055_Ser1056del)
|
rs760503950
|
|
NM_025114.4(CEP290):c.3250C>G (p.Arg1084Gly)
|
rs372918770
|
|
NM_025114.4(CEP290):c.3310-5C>A
|
rs2137345196
|
|
NM_025114.4(CEP290):c.3338A>C (p.Lys1113Thr)
|
rs780796789
|
|
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.379A>C (p.Lys127Gln)
|
rs781101346
|
|
NM_025114.4(CEP290):c.3829_3830delinsCT (p.Ala1277Leu)
|
rs1565845877
|
|
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.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.4043A>C (p.His1348Pro)
|
rs1285246761
|
|
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp)
|
rs181121175
|
|
NM_025114.4(CEP290):c.43C>G (p.Pro15Ala)
|
rs1425716932
|
|
NM_025114.4(CEP290):c.4510G>A (p.Glu1504Lys)
|
rs886043748
|
|
NM_025114.4(CEP290):c.4654_4659del (p.Lys1552_Glu1553del)
|
rs1555207186
|
|
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.4711A>G (p.Arg1571Gly)
|
|
|
NM_025114.4(CEP290):c.473A>G (p.Glu158Gly)
|
|
|
NM_025114.4(CEP290):c.4864C>T (p.Arg1622Cys)
|
|
|
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.5145T>G (p.Asn1715Lys)
|
rs568619750
|
|
NM_025114.4(CEP290):c.5203G>A (p.Ala1735Thr)
|
rs2036093152
|
|
NM_025114.4(CEP290):c.5254C>T (p.Arg1752Trp)
|
rs748471942
|
|
NM_025114.4(CEP290):c.5973G>C (p.Lys1991Asn)
|
rs1064795773
|
|
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.6444T>A (p.Asn2148Lys)
|
rs368101871
|
|
NM_025114.4(CEP290):c.6469A>G (p.Ile2157Val)
|
rs2136749270
|
|
NM_025114.4(CEP290):c.6522+75G>A
|
rs2136746324
|
|
NM_025114.4(CEP290):c.6764G>A (p.Gly2255Asp)
|
rs377561473
|
|
NM_025114.4(CEP290):c.6929T>A (p.Val2310Asp)
|
|
|
NM_025114.4(CEP290):c.6960+10G>C
|
rs75011402
|
|
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.823A>C (p.Lys275Gln)
|
|
|
NM_025114.4(CEP290):c.852+3A>G
|
rs1555225551
|
|
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
|
|