NM_000329.3(RPE65):c.644-33C>G
|
rs1925955
|
0.54169
|
NM_000329.3(RPE65):c.*915C>G
|
rs3118416
|
0.42177
|
NM_000329.3(RPE65):c.*611G>A
|
rs2182315
|
0.42147
|
NM_000329.3(RPE65):c.*531A>G
|
rs3118418
|
0.18178
|
NM_000329.3(RPE65):c.1056G>A (p.Glu352=)
|
rs12145904
|
0.15903
|
NM_000329.3(RPE65):c.1338+20A>C
|
rs12564647
|
0.03055
|
NM_000329.3(RPE65):c.643+22C>T
|
rs2274321
|
0.03055
|
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val)
|
rs34627040
|
0.02403
|
NM_000329.3(RPE65):c.*680G>A
|
rs56113622
|
0.00888
|
NM_000329.3(RPE65):c.*341T>C
|
rs74084042
|
0.00885
|
NM_000329.3(RPE65):c.399T>C (p.Leu133=)
|
rs59257923
|
0.00728
|
NM_000329.3(RPE65):c.*339A>G
|
rs74084043
|
0.00496
|
NM_000329.3(RPE65):c.1155G>A (p.Thr385=)
|
rs62653014
|
0.00481
|
NM_000329.3(RPE65):c.*192A>G
|
rs142768806
|
0.00291
|
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr)
|
rs61752901
|
0.00232
|
NM_000329.3(RPE65):c.*511G>A
|
rs149449684
|
0.00214
|
NM_000329.3(RPE65):c.978G>T (p.Val326=)
|
rs61752907
|
0.00186
|
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr)
|
rs61752878
|
0.00103
|
NM_000329.3(RPE65):c.1129-14A>G
|
rs113329701
|
0.00086
|
NM_000329.3(RPE65):c.48T>C (p.Phe16=)
|
rs62642581
|
0.00059
|
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys)
|
rs149916178
|
0.00054
|
NM_000329.3(RPE65):c.*588C>A
|
rs541546843
|
0.00048
|
NM_000329.3(RPE65):c.102C>A (p.Ile34=)
|
rs146357166
|
0.00034
|
NM_000329.3(RPE65):c.*886T>C
|
rs111811751
|
0.00019
|
NM_000329.3(RPE65):c.11+5G>A
|
rs61751276
|
0.00014
|
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu)
|
rs1191496583
|
0.00014
|
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)
|
rs61752877
|
0.00013
|
NM_000329.3(RPE65):c.441A>G (p.Thr147=)
|
rs185049543
|
0.00012
|
NM_000329.3(RPE65):c.1194C>T (p.Asp398=)
|
rs139640666
|
0.00011
|
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln)
|
rs61752873
|
0.00011
|
NM_000329.3(RPE65):c.859-11C>T
|
rs369772824
|
0.00010
|
NM_000329.3(RPE65):c.1154C>T (p.Thr385Met)
|
rs201379753
|
0.00009
|
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)
|
rs774130993
|
0.00009
|
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile)
|
rs1429137932
|
0.00009
|
NM_000329.3(RPE65):c.295G>A (p.Val99Ile)
|
rs143056561
|
0.00009
|
NM_000329.3(RPE65):c.902A>G (p.Asn301Ser)
|
rs201075875
|
0.00009
|
NM_000329.3(RPE65):c.1070C>A (p.Ala357Asp)
|
rs187198628
|
0.00008
|
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His)
|
rs62653011
|
0.00008
|
NM_000329.3(RPE65):c.253C>T (p.Arg85Cys)
|
rs763317722
|
0.00008
|
NM_000329.3(RPE65):c.95-10T>A
|
rs547374432
|
0.00007
|
NM_000329.3(RPE65):c.1238G>A (p.Arg413His)
|
rs200950327
|
0.00006
|
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)
|
rs61752871
|
0.00006
|
NM_000329.3(RPE65):c.565G>A (p.Val189Ile)
|
rs752990312
|
0.00005
|
NM_000329.3(RPE65):c.*517G>A
|
rs574708413
|
0.00004
|
NM_000329.3(RPE65):c.1129-5C>T
|
rs368533067
|
0.00004
|
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)
|
rs61751282
|
0.00004
|
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro)
|
rs61751277
|
0.00004
|
NM_000329.3(RPE65):c.845A>G (p.Asn282Ser)
|
rs144612129
|
0.00004
|
NM_000329.3(RPE65):c.942C>T (p.His314=)
|
rs752875512
|
0.00004
|
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser)
|
rs61751281
|
0.00003
|
NM_000329.3(RPE65):c.1338+8A>G
|
rs777211540
|
0.00003
|
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp)
|
rs121917745
|
0.00003
|
NM_000329.3(RPE65):c.224G>A (p.Gly75Glu)
|
rs201062742
|
0.00003
|
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn)
|
rs61752905
|
0.00003
|
NM_000329.3(RPE65):c.*560C>T
|
rs1045301005
|
0.00002
|
NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr)
|
rs121917744
|
0.00002
|
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)
|
rs368088025
|
0.00002
|
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter)
|
rs62642584
|
0.00002
|
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp)
|
rs61752896
|
0.00002
|
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)
|
rs199683808
|
0.00002
|
NM_000329.3(RPE65):c.807T>C (p.Ser269=)
|
rs774896870
|
0.00002
|
NM_000329.3(RPE65):c.*546A>C
|
rs1462746486
|
0.00001
|
NM_000329.3(RPE65):c.*554C>T
|
rs1645802843
|
0.00001
|
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)
|
rs61752909
|
0.00001
|
NM_000329.3(RPE65):c.11+2T>G
|
rs778768116
|
0.00001
|
NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro)
|
rs62636298
|
0.00001
|
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln)
|
rs62636299
|
0.00001
|
NM_000329.3(RPE65):c.1399C>G (p.Pro467Ala)
|
rs1395763356
|
0.00001
|
NM_000329.3(RPE65):c.1597T>A (p.Ser533Thr)
|
rs577335767
|
0.00001
|
NM_000329.3(RPE65):c.267C>T (p.Tyr89=)
|
rs372620785
|
0.00001
|
NM_000329.3(RPE65):c.302C>T (p.Thr101Ile)
|
rs1444234037
|
0.00001
|
NM_000329.3(RPE65):c.314C>T (p.Thr105Ile)
|
rs1260914084
|
0.00001
|
NM_000329.3(RPE65):c.344T>C (p.Ile115Thr)
|
rs1645929674
|
0.00001
|
NM_000329.3(RPE65):c.375A>G (p.Gly125=)
|
rs992113946
|
0.00001
|
NM_000329.3(RPE65):c.474G>C (p.Glu158Asp)
|
rs1645927491
|
0.00001
|
NM_000329.3(RPE65):c.484A>C (p.Thr162Pro)
|
rs774309607
|
0.00001
|
NM_000329.3(RPE65):c.493C>T (p.Gln165Ter)
|
rs1202384396
|
0.00001
|
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)
|
rs61752883
|
0.00001
|
NM_000329.3(RPE65):c.547A>G (p.Ile183Val)
|
rs1010958875
|
0.00001
|
NM_000329.3(RPE65):c.560G>A (p.Gly187Glu)
|
rs752058510
|
0.00001
|
NM_000329.3(RPE65):c.576T>A (p.Ile192=)
|
rs747122876
|
0.00001
|
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter)
|
rs61752895
|
0.00001
|
NM_000329.3(RPE65):c.701G>A (p.Arg234Gln)
|
rs577193739
|
0.00001
|
NM_000329.3(RPE65):c.725+2T>A
|
rs1355979496
|
0.00001
|
NM_000329.3(RPE65):c.783G>T (p.Leu261=)
|
rs188493184
|
0.00001
|
NM_000329.3(RPE65):c.858+6T>C
|
rs764221382
|
0.00001
|
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter)
|
rs61752904
|
0.00001
|
NM_000329.3(RPE65):c.917C>T (p.Thr306Ile)
|
rs1171545533
|
0.00001
|
NM_000329.3(RPE65):c.920C>T (p.Ser307Phe)
|
rs1261473838
|
0.00001
|
NM_000329.3(RPE65):c.938A>G (p.His313Arg)
|
rs1375943362
|
0.00001
|
NM_000329.3(RPE65):c.95-2A>T
|
rs61751279
|
0.00001
|
NM_000329.3(RPE65):c.975T>G (p.Ile325Met)
|
rs761227832
|
0.00001
|
NM_000329.3(RPE65):c.992G>A (p.Trp331Ter)
|
rs761471961
|
0.00001
|
NM_000329.3(RPE65):c.993G>A (p.Trp331Ter)
|
rs1645879569
|
0.00001
|
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs)
|
rs62642583
|
|
NM_000329.2:c.1_1602del
|
|
|
NM_000329.3(RPE65):c.*128G>A
|
rs1385513974
|
|
NM_000329.3(RPE65):c.*424C>A
|
rs1645803830
|
|
NM_000329.3(RPE65):c.*630C>T
|
rs1645802157
|
|
NM_000329.3(RPE65):c.*760A>C
|
rs886046508
|
|
NM_000329.3(RPE65):c.*946C>T
|
rs1645800007
|
|
NM_000329.3(RPE65):c.1004A>T (p.Glu335Val)
|
rs1571164534
|
|
NM_000329.3(RPE65):c.1004_1005del (p.Glu335fs)
|
|
|
NM_000329.3(RPE65):c.1040G>A (p.Arg347His)
|
rs562037932
|
|
NM_000329.3(RPE65):c.1059dup (p.Lys354fs)
|
rs2100817031
|
|
NM_000329.3(RPE65):c.1067del (p.Asn356fs)
|
rs281865520
|
|
NM_000329.3(RPE65):c.1067dup (p.Asn356fs)
|
rs281865520
|
|
NM_000329.3(RPE65):c.10C>T (p.Gln4Ter)
|
|
|
NM_000329.3(RPE65):c.10del (p.Gln4fs)
|
rs747393487
|
|
NM_000329.3(RPE65):c.1101A>G (p.Arg367=)
|
rs1553152989
|
|
NM_000329.3(RPE65):c.1205G>C (p.Trp402Ser)
|
rs774130993
|
|
NM_000329.3(RPE65):c.1207_1210dup (p.Glu404fs)
|
rs62636295
|
|
NM_000329.3(RPE65):c.1209_1210insCTGG (p.Glu404fs)
|
rs1645826120
|
|
NM_000329.3(RPE65):c.1243G>A (p.Ala415Thr)
|
rs1571158755
|
|
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)
|
rs62636300
|
|
NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu)
|
rs34627040
|
|
NM_000329.3(RPE65):c.1302G>A (p.Ala434=)
|
rs62636301
|
|
NM_000329.3(RPE65):c.1302G>C (p.Ala434=)
|
rs62636301
|
|
NM_000329.3(RPE65):c.1328T>C (p.Val443Ala)
|
rs1645824187
|
|
NM_000329.3(RPE65):c.1338+1G>A
|
rs1057518922
|
|
NM_000329.3(RPE65):c.1339-1G>C
|
|
|
NM_000329.3(RPE65):c.1345A>T (p.Lys449Ter)
|
|
|
NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter)
|
rs1645823028
|
|
NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter)
|
rs62637006
|
|
NM_000329.3(RPE65):c.1386G>A (p.Glu462=)
|
rs886046509
|
|
NM_000329.3(RPE65):c.138del (p.Pro47fs)
|
rs61752865
|
|
NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser)
|
rs1395763356
|
|
NM_000329.3(RPE65):c.1409C>T (p.Pro470Leu)
|
rs774211361
|
|
NM_000329.3(RPE65):c.1418T>A (p.Val473Asp)
|
rs62637007
|
|
NM_000329.3(RPE65):c.143G>A (p.Gly48Glu)
|
rs2100831413
|
|
NM_000329.3(RPE65):c.1440AGA[1] (p.Glu481del)
|
rs1557595745
|
|
NM_000329.3(RPE65):c.1451-1G>A
|
rs1317871521
|
|
NM_000329.3(RPE65):c.1451-2A>C
|
rs1557595199
|
|
NM_000329.3(RPE65):c.1451-2del
|
rs2100805351
|
|
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)
|
rs62653015
|
|
NM_000329.3(RPE65):c.1503T>A (p.Tyr501Ter)
|
|
|
NM_000329.3(RPE65):c.1583G>T (p.Gly528Val)
|
rs1193631220
|
|
NM_000329.3(RPE65):c.1590C>A (p.Phe530Leu)
|
rs2100804954
|
|
NM_000329.3(RPE65):c.1590del (p.Phe530fs)
|
rs281865292
|
|
NM_000329.3(RPE65):c.1596dup (p.Ser533fs)
|
rs1645806893
|
|
NM_000329.3(RPE65):c.186_191del (p.Asp62_Gln64delinsGlu)
|
rs1645945582
|
|
NM_000329.3(RPE65):c.187G>C (p.Gly63Arg)
|
rs1645945643
|
|
NM_000329.3(RPE65):c.190C>T (p.Gln64Ter)
|
rs1645945599
|
|
NM_000329.3(RPE65):c.190del (p.Gln64fs)
|
|
|
NM_000329.3(RPE65):c.200T>G (p.Leu67Arg)
|
rs1344724754
|
|
NM_000329.3(RPE65):c.202C>T (p.His68Tyr)
|
rs61752866
|
|
NM_000329.3(RPE65):c.208T>G (p.Phe70Val)
|
|
|
NM_000329.3(RPE65):c.215T>C (p.Phe72Ser)
|
rs1553153597
|
|
NM_000329.3(RPE65):c.246-11A>G
|
rs905365719
|
|
NM_000329.3(RPE65):c.272G>C (p.Arg91Pro)
|
rs61752873
|
|
NM_000329.3(RPE65):c.310G>A (p.Gly104Ser)
|
|
|
NM_000329.3(RPE65):c.311G>T (p.Gly104Val)
|
rs61752875
|
|
NM_000329.3(RPE65):c.314C>A (p.Thr105Asn)
|
rs1260914084
|
|
NM_000329.3(RPE65):c.332C>A (p.Pro111His)
|
rs2100828238
|
|
NM_000329.3(RPE65):c.353+1G>A
|
|
|
NM_000329.3(RPE65):c.354-2A>G
|
|
|
NM_000329.3(RPE65):c.354G>T (p.Arg118Ser)
|
rs1015895028
|
|
NM_000329.3(RPE65):c.361del (p.Ser121fs)
|
rs121918844
|
|
NM_000329.3(RPE65):c.361dup (p.Ser121fs)
|
rs121918844
|
|
NM_000329.3(RPE65):c.366C>T (p.Tyr122=)
|
rs1479443954
|
|
NM_000329.3(RPE65):c.36C>G (p.Tyr12Ter)
|
|
|
NM_000329.3(RPE65):c.395C>T (p.Ala132Val)
|
rs1276965909
|
|
NM_000329.3(RPE65):c.407T>G (p.Val136Gly)
|
rs1645928251
|
|
NM_000329.3(RPE65):c.411C>A (p.Tyr137Ter)
|
|
|
NM_000329.3(RPE65):c.432C>T (p.Tyr144=)
|
rs56021047
|
|
NM_000329.3(RPE65):c.440_441del (p.Thr147fs)
|
rs1201299067
|
|
NM_000329.3(RPE65):c.444G>T (p.Glu148Asp)
|
rs61752882
|
|
NM_000329.3(RPE65):c.444_445del (p.Glu148fs)
|
rs1645927790
|
|
NM_000329.3(RPE65):c.46_49del (p.Phe16fs)
|
rs866809120
|
|
NM_000329.3(RPE65):c.544C>A (p.His182Asn)
|
rs61752884
|
|
NM_000329.3(RPE65):c.545A>G (p.His182Arg)
|
rs1459110114
|
|
NM_000329.3(RPE65):c.549del (p.Ile183fs)
|
|
|
NM_000329.3(RPE65):c.556G>A (p.Asp186Asn)
|
rs1553153243
|
|
NM_000329.3(RPE65):c.571A>G (p.Asn191Asp)
|
rs1189903735
|
|
NM_000329.3(RPE65):c.615_616del (p.Ile206fs)
|
rs61752888
|
|
NM_000329.3(RPE65):c.61del (p.Glu21fs)
|
rs758550330
|
|
NM_000329.3(RPE65):c.637C>T (p.Gln213Ter)
|
rs777966849
|
|
NM_000329.3(RPE65):c.643+2T>A
|
rs1645896934
|
|
NM_000329.3(RPE65):c.644-2A>G
|
|
|
NM_000329.3(RPE65):c.644-2A>T
|
rs61752891
|
|
NM_000329.3(RPE65):c.672_673del (p.Glu224fs)
|
|
|
NM_000329.3(RPE65):c.683A>C (p.Gln228Pro)
|
rs886046510
|
|
NM_000329.3(RPE65):c.693C>A (p.Cys231Ter)
|
rs2100819756
|
|
NM_000329.3(RPE65):c.706A>T (p.Lys236Ter)
|
rs1645885900
|
|
NM_000329.3(RPE65):c.718G>A (p.Val240Ile)
|
rs192907397
|
|
NM_000329.3(RPE65):c.725+1G>A
|
rs1260969698
|
|
NM_000329.3(RPE65):c.726-2A>T
|
rs878853372
|
|
NM_000329.3(RPE65):c.746A>G (p.Tyr249Cys)
|
rs373652862
|
|
NM_000329.3(RPE65):c.770T>G (p.Val257Gly)
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rs1645883131
|
|
NM_000329.3(RPE65):c.785_787del (p.Phe262_Lys263delinsTer)
|
rs2100819151
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NM_000329.3(RPE65):c.842_843del (p.Glu280_Ser281insTer)
|
|
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NM_000329.3(RPE65):c.843_858+7del
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rs1645882103
|
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NM_000329.3(RPE65):c.858+1G>A
|
rs61752899
|
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NM_000329.3(RPE65):c.858+1G>T
|
rs61752899
|
|
NM_000329.3(RPE65):c.858+1dup
|
|
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NM_000329.3(RPE65):c.859-1G>A
|
|
|
NM_000329.3(RPE65):c.859G>T (p.Val287Phe)
|
rs281865289
|
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NM_000329.3(RPE65):c.859del
|
rs2100818777
|
|
NM_000329.3(RPE65):c.886del (p.Arg296fs)
|
rs746127684
|
|
NM_000329.3(RPE65):c.893del (p.Lys298fs)
|
rs61752902
|
|
NM_000329.3(RPE65):c.894del (p.Lys298fs)
|
rs61752903
|
|
NM_000329.3(RPE65):c.906_907del (p.Asn302fs)
|
|
|
NM_000329.3(RPE65):c.90delinsGAGCTC (p.Thr31fs)
|
|
|
NM_000329.3(RPE65):c.912C>G (p.Tyr304Ter)
|
rs2100818575
|
|
NM_000329.3(RPE65):c.914G>T (p.Arg305Ile)
|
rs1645880293
|
|
NM_000329.3(RPE65):c.923C>T (p.Pro308Leu)
|
rs1645880232
|
|
NM_000329.3(RPE65):c.93A>G (p.Thr31=)
|
rs2100834154
|
|
NM_000329.3(RPE65):c.94G>T (p.Gly32Cys)
|
rs768448761
|
|
NM_000329.3(RPE65):c.962dup (p.Asn321fs)
|
rs61752906
|
|
NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr)
|
rs61752908
|
|
NM_000329.3(RPE65):c.998+1G>A
|
rs1645879495
|
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NM_000329.3(RPE65):c.999-1G>T
|
|
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NM_000329.3(RPE65):c.[1206G>A;1207_1210dup]
|
|
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