NM_000329.3(RPE65):c.998+207T>C
|
rs3118421
|
0.96692
|
NM_000329.3(RPE65):c.644-33C>G
|
rs1925955
|
0.54169
|
NM_000329.3(RPE65):c.999-267A>G
|
rs3125902
|
0.53829
|
NM_000329.3(RPE65):c.998+270C>A
|
rs3118420
|
0.42212
|
NM_000329.3(RPE65):c.95-212A>G
|
rs2012235
|
0.42043
|
NM_000329.3(RPE65):c.1450+104C>T
|
rs932783
|
0.41964
|
NM_000329.3(RPE65):c.1056G>A (p.Glu352=)
|
rs12145904
|
0.15903
|
NM_000329.3(RPE65):c.998+112T>C
|
rs12138573
|
0.15886
|
NM_000329.3(RPE65):c.11+99T>A
|
rs3125907
|
0.10865
|
NM_000329.3(RPE65):c.12-281T>C
|
rs2277874
|
0.06010
|
NM_000329.3(RPE65):c.245+284T>G
|
rs2148138
|
0.04609
|
NM_000329.3(RPE65):c.246-46G>A
|
rs3790471
|
0.03558
|
NM_000329.3(RPE65):c.1339-39T>C
|
rs13375676
|
0.03084
|
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.245+243C>T
|
rs11209301
|
0.01817
|
NM_000329.3(RPE65):c.1243+29G>A
|
rs116540274
|
0.01138
|
NM_000329.3(RPE65):c.1128+2585A>C
|
rs1555847
|
0.00955
|
NM_000329.3(RPE65):c.399T>C (p.Leu133=)
|
rs59257923
|
0.00728
|
NM_000329.3(RPE65):c.1155G>A (p.Thr385=)
|
rs62653014
|
0.00481
|
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr)
|
rs61752901
|
0.00232
|
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.48T>C (p.Phe16=)
|
rs62642581
|
0.00059
|
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys)
|
rs149916178
|
0.00054
|
NM_000329.3(RPE65):c.644-42del
|
rs61752893
|
0.00039
|
NM_000329.3(RPE65):c.102C>A (p.Ile34=)
|
rs146357166
|
0.00034
|
NM_000329.3(RPE65):c.168A>G (p.Pro56=)
|
rs150260489
|
0.00016
|
NM_000329.3(RPE65):c.11+5G>A
|
rs61751276
|
0.00014
|
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)
|
rs61752877
|
0.00013
|
NM_000329.3(RPE65):c.433G>A (p.Ala145Thr)
|
rs767528365
|
0.00012
|
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln)
|
rs61752873
|
0.00011
|
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.1102T>C (p.Tyr368His)
|
rs62653011
|
0.00008
|
NM_000329.3(RPE65):c.585C>T (p.Cys195=)
|
rs571111378
|
0.00007
|
NM_000329.3(RPE65):c.95-10T>A
|
rs547374432
|
0.00007
|
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)
|
rs61752871
|
0.00006
|
NM_000329.3(RPE65):c.254G>A (p.Arg85His)
|
rs61752870
|
0.00005
|
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)
|
rs61751282
|
0.00004
|
NM_000329.3(RPE65):c.1559T>C (p.Ile520Thr)
|
rs281865291
|
0.00004
|
NM_000329.3(RPE65):c.268G>A (p.Val90Ile)
|
rs370076628
|
0.00004
|
NM_000329.3(RPE65):c.449A>G (p.Asn150Ser)
|
rs891340302
|
0.00004
|
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro)
|
rs61751277
|
0.00004
|
NM_000329.3(RPE65):c.94+10G>A
|
rs777879312
|
0.00004
|
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser)
|
rs61751281
|
0.00003
|
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp)
|
rs121917745
|
0.00003
|
NM_000329.3(RPE65):c.331C>T (p.Pro111Ser)
|
rs886042220
|
0.00003
|
NM_000329.3(RPE65):c.614A>G (p.Asn205Ser)
|
rs61752887
|
0.00003
|
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn)
|
rs61752905
|
0.00003
|
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)
|
rs368088025
|
0.00002
|
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly)
|
rs62637004
|
0.00002
|
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter)
|
rs62642584
|
0.00002
|
NM_000329.3(RPE65):c.564C>T (p.Thr188=)
|
rs764476046
|
0.00002
|
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp)
|
rs61752896
|
0.00002
|
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)
|
rs61752909
|
0.00001
|
NM_000329.3(RPE65):c.1178C>A (p.Ala393Glu)
|
rs62635773
|
0.00001
|
NM_000329.3(RPE65):c.1220T>C (p.Val407Ala)
|
rs62636297
|
0.00001
|
NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro)
|
rs62636298
|
0.00001
|
NM_000329.3(RPE65):c.1244C>T (p.Ala415Val)
|
rs1064795255
|
0.00001
|
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln)
|
rs62636299
|
0.00001
|
NM_000329.3(RPE65):c.124C>T (p.Leu42Phe)
|
rs750724065
|
0.00001
|
NM_000329.3(RPE65):c.1445A>G (p.Asp482Gly)
|
rs749242996
|
0.00001
|
NM_000329.3(RPE65):c.1485A>C (p.Ala495=)
|
rs753956649
|
0.00001
|
NM_000329.3(RPE65):c.235T>C (p.Tyr79His)
|
rs61752869
|
0.00001
|
NM_000329.3(RPE65):c.2T>C (p.Met1Thr)
|
rs281865285
|
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.700C>T (p.Arg234Ter)
|
rs61752895
|
0.00001
|
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter)
|
rs61752904
|
0.00001
|
NM_000329.3(RPE65):c.95-2A>T
|
rs61751279
|
0.00001
|
NM_000329.3(RPE65):c.953A>G (p.Tyr318Cys)
|
rs761284021
|
0.00001
|
NM_000329.3(RPE65):c.992G>A (p.Trp331Ter)
|
rs761471961
|
0.00001
|
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs)
|
rs62642583
|
|
NM_000329.3(RPE65):c.1046_1047insTGG (p.Asn349_Trp350insGly)
|
rs61752910
|
|
NM_000329.3(RPE65):c.1053A>G (p.Glu351=)
|
rs62642585
|
|
NM_000329.3(RPE65):c.1067del (p.Asn356fs)
|
rs281865520
|
|
NM_000329.3(RPE65):c.1067dup (p.Asn356fs)
|
rs281865520
|
|
NM_000329.3(RPE65):c.106_114del (p.Leu36_Leu38del)
|
rs61751280
|
|
NM_000329.3(RPE65):c.1078G>A (p.Ala360Thr)
|
rs62646883
|
|
NM_000329.3(RPE65):c.1078G>C (p.Ala360Pro)
|
rs62646883
|
|
NM_000329.3(RPE65):c.11+34T>A
|
rs61751275
|
|
NM_000329.3(RPE65):c.1103A>G (p.Tyr368Cys)
|
rs62653012
|
|
NM_000329.3(RPE65):c.1120del (p.Ile374fs)
|
rs62653013
|
|
NM_000329.3(RPE65):c.1178C>G (p.Ala393Gly)
|
rs62635773
|
|
NM_000329.3(RPE65):c.119G>A (p.Gly40Asp)
|
|
|
NM_000329.3(RPE65):c.1207_1210dup (p.Glu404fs)
|
rs62636295
|
|
NM_000329.3(RPE65):c.1208T>C (p.Leu403Pro)
|
rs62636296
|
|
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)
|
rs62636300
|
|
NM_000329.3(RPE65):c.12G>T (p.Gln4His)
|
rs1645960147
|
|
NM_000329.3(RPE65):c.1302G>C (p.Ala434=)
|
rs62636301
|
|
NM_000329.3(RPE65):c.1304A>G (p.Tyr435Cys)
|
rs62636302
|
|
NM_000329.3(RPE65):c.1306G>A (p.Gly436Arg)
|
rs2100807345
|
|
NM_000329.3(RPE65):c.1307G>T (p.Gly436Val)
|
rs62637002
|
|
NM_000329.3(RPE65):c.1322A>G (p.His441Arg)
|
rs1645824226
|
|
NM_000329.3(RPE65):c.1339-3C>G
|
|
|
NM_000329.3(RPE65):c.1350G>T (p.Leu450=)
|
rs62637003
|
|
NM_000329.3(RPE65):c.1366del (p.Glu456fs)
|
rs786205444
|
|
NM_000329.3(RPE65):c.1370C>A (p.Thr457Asn)
|
rs62637005
|
|
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.138del (p.Pro47fs)
|
rs61752865
|
|
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.1430A>G (p.Asp477Gly)
|
rs1571158279
|
|
NM_000329.3(RPE65):c.1441G>A (p.Glu481Lys)
|
rs768710948
|
|
NM_000329.3(RPE65):c.1451-22C>T
|
rs281865290
|
|
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)
|
rs62653015
|
|
NM_000329.3(RPE65):c.1456G>A (p.Val486Ile)
|
|
|
NM_000329.3(RPE65):c.1496C>T (p.Pro499Leu)
|
rs1557595139
|
|
NM_000329.3(RPE65):c.149_150del (p.Leu49_Phe50insTer)
|
rs886042807
|
|
NM_000329.3(RPE65):c.1562A>T (p.Asn521Ile)
|
|
|
NM_000329.3(RPE65):c.1590del (p.Phe530fs)
|
rs281865292
|
|
NM_000329.3(RPE65):c.202C>T (p.His68Tyr)
|
rs61752866
|
|
NM_000329.3(RPE65):c.208_209delinsGG (p.Phe70Gly)
|
rs281865287
|
|
NM_000329.3(RPE65):c.209T>C (p.Phe70Ser)
|
rs1645945363
|
|
NM_000329.3(RPE65):c.231C>A (p.Val77=)
|
rs61752868
|
|
NM_000329.3(RPE65):c.257C>A (p.Thr86Asn)
|
rs1645931073
|
|
NM_000329.3(RPE65):c.271_272insA (p.Arg91fs)
|
rs61752872
|
|
NM_000329.3(RPE65):c.272G>C (p.Arg91Pro)
|
rs61752873
|
|
NM_000329.3(RPE65):c.283G>C (p.Glu95Gln)
|
rs61752874
|
|
NM_000329.3(RPE65):c.304G>A (p.Glu102Lys)
|
rs62642584
|
|
NM_000329.3(RPE65):c.311G>T (p.Gly104Val)
|
rs61752875
|
|
NM_000329.3(RPE65):c.317G>A (p.Cys106Tyr)
|
|
|
NM_000329.3(RPE65):c.353+1G>T
|
rs61752876
|
|
NM_000329.3(RPE65):c.430T>G (p.Tyr144Asp)
|
rs61752880
|
|
NM_000329.3(RPE65):c.432C>T (p.Tyr144=)
|
rs56021047
|
|
NM_000329.3(RPE65):c.444G>T (p.Glu148Asp)
|
rs61752882
|
|
NM_000329.3(RPE65):c.495+1dup
|
rs281865288
|
|
NM_000329.3(RPE65):c.544C>A (p.His182Asn)
|
rs61752884
|
|
NM_000329.3(RPE65):c.544C>T (p.His182Tyr)
|
rs61752884
|
|
NM_000329.3(RPE65):c.570C>T (p.Tyr190=)
|
rs61752885
|
|
NM_000329.3(RPE65):c.57_58del (p.Glu20fs)
|
rs62642582
|
|
NM_000329.3(RPE65):c.609C>T (p.Ala203=)
|
rs61752886
|
|
NM_000329.3(RPE65):c.615_616del (p.Ile206fs)
|
rs61752888
|
|
NM_000329.3(RPE65):c.643+1G>C
|
rs61752889
|
|
NM_000329.3(RPE65):c.643+5G>A
|
rs61752890
|
|
NM_000329.3(RPE65):c.644-1G>T
|
rs61752892
|
|
NM_000329.3(RPE65):c.644-2A>T
|
rs61752891
|
|
NM_000329.3(RPE65):c.644-43del
|
rs61752894
|
|
NM_000329.3(RPE65):c.644A>G (p.Asp215Gly)
|
rs62646881
|
|
NM_000329.3(RPE65):c.675C>A (p.Ile225=)
|
rs114379164
|
|
NM_000329.3(RPE65):c.725+4A>G
|
rs61752897
|
|
NM_000329.3(RPE65):c.755T>C (p.Phe252Ser)
|
rs1553153135
|
|
NM_000329.3(RPE65):c.778_785del (p.Asn260fs)
|
rs63749059
|
|
NM_000329.3(RPE65):c.793C>T (p.Leu265Phe)
|
rs1457086571
|
|
NM_000329.3(RPE65):c.80C>T (p.Thr27Ile)
|
rs794727245
|
|
NM_000329.3(RPE65):c.858+1G>A
|
rs61752899
|
|
NM_000329.3(RPE65):c.858+1G>T
|
rs61752899
|
|
NM_000329.3(RPE65):c.858+4A>G
|
rs61752900
|
|
NM_000329.3(RPE65):c.859G>T (p.Val287Phe)
|
rs281865289
|
|
NM_000329.3(RPE65):c.886dup (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.89dup (p.Thr31fs)
|
rs281865286
|
|
NM_000329.3(RPE65):c.946A>G (p.Asn316Asp)
|
rs2100818454
|
|
NM_000329.3(RPE65):c.95G>T (p.Gly32Val)
|
rs61751278
|
|
NM_000329.3(RPE65):c.962dup (p.Asn321fs)
|
rs61752906
|
|
NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr)
|
rs61752908
|
|