NM_000329.3(RPE65):c.*339A>G
|
rs74084043
|
0.00496
|
NM_000329.3(RPE65):c.*192A>G
|
rs142768806
|
0.00291
|
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.1244-5C>T
|
rs202185816
|
0.00074
|
NM_000329.3(RPE65):c.496-4G>A
|
rs138146176
|
0.00069
|
NM_000329.3(RPE65):c.48T>C (p.Phe16=)
|
rs62642581
|
0.00059
|
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.298A>C (p.Ile100Leu)
|
rs142626873
|
0.00013
|
NM_000329.3(RPE65):c.433G>A (p.Ala145Thr)
|
rs767528365
|
0.00012
|
NM_000329.3(RPE65):c.1194C>T (p.Asp398=)
|
rs139640666
|
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.242G>T (p.Arg81Ile)
|
rs1429137932
|
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.253C>T (p.Arg85Cys)
|
rs763317722
|
0.00008
|
NM_000329.3(RPE65):c.676G>A (p.Val226Ile)
|
rs750099371
|
0.00007
|
NM_000329.3(RPE65):c.95-10T>A
|
rs547374432
|
0.00007
|
NM_000329.3(RPE65):c.1195G>A (p.Glu399Lys)
|
rs144673747
|
0.00006
|
NM_000329.3(RPE65):c.1238G>A (p.Arg413His)
|
rs200950327
|
0.00006
|
NM_000329.3(RPE65):c.254G>A (p.Arg85His)
|
rs61752870
|
0.00005
|
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.106C>T (p.Leu36Phe)
|
rs371586530
|
0.00004
|
NM_000329.3(RPE65):c.1129-5C>T
|
rs368533067
|
0.00004
|
NM_000329.3(RPE65):c.1237C>T (p.Arg413Cys)
|
rs369142161
|
0.00004
|
NM_000329.3(RPE65):c.1449T>C (p.Asp483=)
|
rs201116540
|
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.617T>C (p.Ile206Thr)
|
rs768445391
|
0.00004
|
NM_000329.3(RPE65):c.637C>A (p.Gln213Lys)
|
rs777966849
|
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.1198A>T (p.Thr400Ser)
|
rs1645826225
|
0.00003
|
NM_000329.3(RPE65):c.1338+8A>G
|
rs777211540
|
0.00003
|
NM_000329.3(RPE65):c.1366G>C (p.Glu456Gln)
|
rs755805126
|
0.00003
|
NM_000329.3(RPE65):c.1387C>A (p.Pro463Thr)
|
rs375358477
|
0.00003
|
NM_000329.3(RPE65):c.224G>A (p.Gly75Glu)
|
rs201062742
|
0.00003
|
NM_000329.3(RPE65):c.524A>G (p.Asn175Ser)
|
rs771863086
|
0.00003
|
NM_000329.3(RPE65):c.614A>G (p.Asn205Ser)
|
rs61752887
|
0.00003
|
NM_000329.3(RPE65):c.842C>G (p.Ser281Cys)
|
rs753656894
|
0.00003
|
NM_000329.3(RPE65):c.*560C>T
|
rs1045301005
|
0.00002
|
NM_000329.3(RPE65):c.1243+10T>C
|
rs548537552
|
0.00002
|
NM_000329.3(RPE65):c.1339-4A>G
|
rs746665921
|
0.00002
|
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly)
|
rs62637004
|
0.00002
|
NM_000329.3(RPE65):c.1431T>C (p.Asp477=)
|
rs570518981
|
0.00002
|
NM_000329.3(RPE65):c.1544G>A (p.Arg515Gln)
|
rs559975684
|
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.1034A>G (p.Asn345Ser)
|
rs769440649
|
0.00001
|
NM_000329.3(RPE65):c.1189A>G (p.Ser397Gly)
|
rs749942889
|
0.00001
|
NM_000329.3(RPE65):c.1220T>C (p.Val407Ala)
|
rs62636297
|
0.00001
|
NM_000329.3(RPE65):c.1235C>T (p.Pro412Leu)
|
rs199613555
|
0.00001
|
NM_000329.3(RPE65):c.124C>T (p.Leu42Phe)
|
rs750724065
|
0.00001
|
NM_000329.3(RPE65):c.1334A>G (p.Asp445Gly)
|
rs1645824155
|
0.00001
|
NM_000329.3(RPE65):c.1486G>A (p.Gly496Arg)
|
rs1468393625
|
0.00001
|
NM_000329.3(RPE65):c.1519G>T (p.Ala507Ser)
|
rs767931252
|
0.00001
|
NM_000329.3(RPE65):c.1533T>G (p.Ser511Arg)
|
rs190761343
|
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.375A>G (p.Gly125=)
|
rs992113946
|
0.00001
|
NM_000329.3(RPE65):c.382G>T (p.Val128Phe)
|
rs375611153
|
0.00001
|
NM_000329.3(RPE65):c.417G>A (p.Val139=)
|
rs536073181
|
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.494A>T (p.Gln165Leu)
|
rs745338004
|
0.00001
|
NM_000329.3(RPE65):c.547A>G (p.Ile183Val)
|
rs1010958875
|
0.00001
|
NM_000329.3(RPE65):c.563C>T (p.Thr188Ile)
|
rs1196428445
|
0.00001
|
NM_000329.3(RPE65):c.576T>A (p.Ile192=)
|
rs747122876
|
0.00001
|
NM_000329.3(RPE65):c.701G>A (p.Arg234Gln)
|
rs577193739
|
0.00001
|
NM_000329.3(RPE65):c.743A>G (p.Asn248Ser)
|
rs758264644
|
0.00001
|
NM_000329.3(RPE65):c.744C>A (p.Asn248Lys)
|
rs1343005273
|
0.00001
|
NM_000329.3(RPE65):c.783G>T (p.Leu261=)
|
rs188493184
|
0.00001
|
NM_000329.3(RPE65):c.7A>G (p.Ile3Val)
|
rs777461552
|
0.00001
|
NM_000329.3(RPE65):c.858+6T>C
|
rs764221382
|
0.00001
|
NM_000329.3(RPE65):c.874G>A (p.Ala292Thr)
|
rs377762154
|
0.00001
|
NM_000329.3(RPE65):c.909A>C (p.Lys303Asn)
|
rs756160706
|
0.00001
|
NM_000329.3(RPE65):c.920C>T (p.Ser307Phe)
|
rs1261473838
|
0.00001
|
NM_000329.3(RPE65):c.953A>G (p.Tyr318Cys)
|
rs761284021
|
0.00001
|
NM_000329.3(RPE65):c.975T>G (p.Ile325Met)
|
rs761227832
|
0.00001
|
NC_000001.10:g.(?_68895459)_(68915588_?)dup
|
|
|
NC_000001.10:g.(?_68914307)_(68919076_?)dup
|
|
|
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.*735del
|
rs577675068
|
|
NM_000329.3(RPE65):c.*760A>C
|
rs886046508
|
|
NM_000329.3(RPE65):c.*946C>T
|
rs1645800007
|
|
NM_000329.3(RPE65):c.1013A>G (p.Tyr338Cys)
|
rs1645875407
|
|
NM_000329.3(RPE65):c.101T>C (p.Ile34Thr)
|
|
|
NM_000329.3(RPE65):c.1031C>T (p.Ala344Val)
|
|
|
NM_000329.3(RPE65):c.1038A>C (p.Leu346Phe)
|
rs2100817108
|
|
NM_000329.3(RPE65):c.1040G>T (p.Arg347Leu)
|
rs562037932
|
|
NM_000329.3(RPE65):c.1058T>G (p.Val353Gly)
|
rs2100817038
|
|
NM_000329.3(RPE65):c.1060A>G (p.Lys354Glu)
|
|
|
NM_000329.3(RPE65):c.1078G>A (p.Ala360Thr)
|
rs62646883
|
|
NM_000329.3(RPE65):c.1088C>A (p.Pro363His)
|
|
|
NM_000329.3(RPE65):c.1098G>C (p.Arg366Ser)
|
rs764589805
|
|
NM_000329.3(RPE65):c.11+4_11+7del
|
|
|
NM_000329.3(RPE65):c.1101A>G (p.Arg367=)
|
rs1553152989
|
|
NM_000329.3(RPE65):c.1115T>C (p.Leu372Ser)
|
|
|
NM_000329.3(RPE65):c.1118A>G (p.Asn373Ser)
|
rs1645874179
|
|
NM_000329.3(RPE65):c.1123G>A (p.Asp375Asn)
|
rs1645874113
|
|
NM_000329.3(RPE65):c.1123G>C (p.Asp375His)
|
rs1645874113
|
|
NM_000329.3(RPE65):c.1149A>T (p.Leu383Phe)
|
|
|
NM_000329.3(RPE65):c.1150G>T (p.Val384Phe)
|
rs1645826797
|
|
NM_000329.3(RPE65):c.1152C>G (p.Val384=)
|
rs1571158917
|
|
NM_000329.3(RPE65):c.1169C>T (p.Thr390Ile)
|
rs1645826475
|
|
NM_000329.3(RPE65):c.1183C>A (p.Leu395Met)
|
|
|
NM_000329.3(RPE65):c.1190G>A (p.Ser397Asn)
|
|
|
NM_000329.3(RPE65):c.1201_1203dup (p.Ile401dup)
|
rs2100807868
|
|
NM_000329.3(RPE65):c.1205G>C (p.Trp402Ser)
|
rs774130993
|
|
NM_000329.3(RPE65):c.1213C>G (p.Pro405Ala)
|
|
|
NM_000329.3(RPE65):c.1234C>T (p.Pro412Ser)
|
|
|
NM_000329.3(RPE65):c.1265A>G (p.Asn422Ser)
|
|
|
NM_000329.3(RPE65):c.1291T>C (p.Tyr431His)
|
|
|
NM_000329.3(RPE65):c.1294A>C (p.Thr432Pro)
|
rs1645824500
|
|
NM_000329.3(RPE65):c.1294A>T (p.Thr432Ser)
|
rs1645824500
|
|
NM_000329.3(RPE65):c.1298A>G (p.Tyr433Cys)
|
rs147206805
|
|
NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu)
|
rs34627040
|
|
NM_000329.3(RPE65):c.1307G>A (p.Gly436Glu)
|
rs62637002
|
|
NM_000329.3(RPE65):c.131G>T (p.Arg44Leu)
|
rs61751282
|
|
NM_000329.3(RPE65):c.1322A>G (p.His441Arg)
|
rs1645824226
|
|
NM_000329.3(RPE65):c.1328T>C (p.Val443Ala)
|
rs1645824187
|
|
NM_000329.3(RPE65):c.1338+3A>T
|
rs1645824066
|
|
NM_000329.3(RPE65):c.1339-3C>G
|
|
|
NM_000329.3(RPE65):c.1357A>G (p.Lys453Glu)
|
|
|
NM_000329.3(RPE65):c.1359A>T (p.Lys453Asn)
|
|
|
NM_000329.3(RPE65):c.1380G>T (p.Trp460Cys)
|
rs1645823028
|
|
NM_000329.3(RPE65):c.1386G>A (p.Glu462=)
|
rs886046509
|
|
NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser)
|
rs1395763356
|
|
NM_000329.3(RPE65):c.1402T>A (p.Ser468Thr)
|
rs2100806926
|
|
NM_000329.3(RPE65):c.1409C>A (p.Pro470His)
|
rs774211361
|
|
NM_000329.3(RPE65):c.1412T>C (p.Ile471Thr)
|
|
|
NM_000329.3(RPE65):c.1424A>C (p.His475Pro)
|
rs2100806867
|
|
NM_000329.3(RPE65):c.1429G>C (p.Asp477His)
|
rs2100806843
|
|
NM_000329.3(RPE65):c.1432G>A (p.Ala478Thr)
|
rs2100806829
|
|
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.1444G>T (p.Asp482Tyr)
|
rs2100806802
|
|
NM_000329.3(RPE65):c.1450+3A>G
|
|
|
NM_000329.3(RPE65):c.1454T>C (p.Val485Ala)
|
rs1645808193
|
|
NM_000329.3(RPE65):c.1456G>A (p.Val486Ile)
|
|
|
NM_000329.3(RPE65):c.1456G>T (p.Val486Phe)
|
rs2100805317
|
|
NM_000329.3(RPE65):c.1496C>T (p.Pro499Leu)
|
rs1557595139
|
|
NM_000329.3(RPE65):c.1524G>C (p.Lys508Asn)
|
|
|
NM_000329.3(RPE65):c.1525G>A (p.Asp509Asn)
|
|
|
NM_000329.3(RPE65):c.1532G>A (p.Ser511Asn)
|
rs1645807408
|
|
NM_000329.3(RPE65):c.1534G>A (p.Glu512Lys)
|
|
|
NM_000329.3(RPE65):c.1555G>A (p.Glu519Lys)
|
rs373274945
|
|
NM_000329.3(RPE65):c.1574C>A (p.Thr525Asn)
|
rs879123797
|
|
NM_000329.3(RPE65):c.1580A>G (p.His527Arg)
|
rs1194458561
|
|
NM_000329.3(RPE65):c.1582G>A (p.Gly528Arg)
|
rs150832066
|
|
NM_000329.3(RPE65):c.158G>A (p.Gly53Glu)
|
|
|
NM_000329.3(RPE65):c.158G>T (p.Gly53Val)
|
rs763536294
|
|
NM_000329.3(RPE65):c.166C>T (p.Pro56Ser)
|
|
|
NM_000329.3(RPE65):c.171T>G (p.Phe57Leu)
|
rs2100831318
|
|
NM_000329.3(RPE65):c.20A>G (p.His7Arg)
|
|
|
NM_000329.3(RPE65):c.215T>C (p.Phe72Ser)
|
rs1553153597
|
|
NM_000329.3(RPE65):c.220G>A (p.Glu74Lys)
|
rs2100831197
|
|
NM_000329.3(RPE65):c.220G>C (p.Glu74Gln)
|
rs2100831197
|
|
NM_000329.3(RPE65):c.221A>G (p.Glu74Gly)
|
rs2100831191
|
|
NM_000329.3(RPE65):c.227A>G (p.His76Arg)
|
rs1571172233
|
|
NM_000329.3(RPE65):c.256A>G (p.Thr86Ala)
|
rs2100828493
|
|
NM_000329.3(RPE65):c.257C>A (p.Thr86Asn)
|
rs1645931073
|
|
NM_000329.3(RPE65):c.260A>G (p.Asp87Gly)
|
rs1645931040
|
|
NM_000329.3(RPE65):c.280A>G (p.Thr94Ala)
|
rs1645930710
|
|
NM_000329.3(RPE65):c.280A>T (p.Thr94Ser)
|
|
|
NM_000329.3(RPE65):c.284A>G (p.Glu95Gly)
|
|
|
NM_000329.3(RPE65):c.293T>C (p.Ile98Thr)
|
rs1645930635
|
|
NM_000329.3(RPE65):c.308T>C (p.Phe103Ser)
|
rs1645930469
|
|
NM_000329.3(RPE65):c.314C>A (p.Thr105Asn)
|
rs1260914084
|
|
NM_000329.3(RPE65):c.317G>A (p.Cys106Tyr)
|
|
|
NM_000329.3(RPE65):c.325C>T (p.Pro109Ser)
|
|
|
NM_000329.3(RPE65):c.332C>A (p.Pro111His)
|
rs2100828238
|
|
NM_000329.3(RPE65):c.353+4A>T
|
rs1299116346
|
|
NM_000329.3(RPE65):c.354G>T (p.Arg118Ser)
|
rs1015895028
|
|
NM_000329.3(RPE65):c.366C>T (p.Tyr122=)
|
rs1479443954
|
|
NM_000329.3(RPE65):c.371G>A (p.Arg124Gln)
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NM_000329.3(RPE65):c.37A>C (p.Lys13Gln)
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NM_000329.3(RPE65):c.37A>G (p.Lys13Glu)
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NM_000329.3(RPE65):c.382G>A (p.Val128Ile)
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NM_000329.3(RPE65):c.386C>T (p.Thr129Ile)
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rs768336015
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NM_000329.3(RPE65):c.395C>T (p.Ala132Val)
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rs1276965909
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NM_000329.3(RPE65):c.400G>A (p.Val134Ile)
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NM_000329.3(RPE65):c.400_402del (p.Val134del)
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rs1170746947
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NM_000329.3(RPE65):c.406G>C (p.Val136Leu)
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NM_000329.3(RPE65):c.415G>A (p.Val139Met)
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NM_000329.3(RPE65):c.425A>T (p.Asp142Val)
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NM_000329.3(RPE65):c.432C>T (p.Tyr144=)
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rs56021047
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NM_000329.3(RPE65):c.434C>T (p.Ala145Val)
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NM_000329.3(RPE65):c.455T>C (p.Ile152Thr)
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NM_000329.3(RPE65):c.462G>C (p.Lys154Asn)
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rs2100827532
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NM_000329.3(RPE65):c.485C>T (p.Thr162Ile)
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rs1360779220
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NM_000329.3(RPE65):c.497T>C (p.Val166Ala)
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rs2100821973
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NM_000329.3(RPE65):c.505T>C (p.Cys169Arg)
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rs1645898589
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NM_000329.3(RPE65):c.535G>A (p.Ala179Thr)
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rs1645898290
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NM_000329.3(RPE65):c.536C>T (p.Ala179Val)
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rs1645898265
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NM_000329.3(RPE65):c.53C>G (p.Thr18Ser)
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rs1645959906
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NM_000329.3(RPE65):c.548T>C (p.Ile183Thr)
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NM_000329.3(RPE65):c.557A>T (p.Asp186Val)
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NM_000329.3(RPE65):c.55G>A (p.Val19Met)
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NM_000329.3(RPE65):c.56T>A (p.Val19Glu)
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rs1645959875
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NM_000329.3(RPE65):c.571A>G (p.Asn191Asp)
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rs1189903735
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NM_000329.3(RPE65):c.58G>A (p.Glu20Lys)
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rs755545288
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NM_000329.3(RPE65):c.597T>A (p.Asn199Lys)
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NM_000329.3(RPE65):c.598T>G (p.Phe200Val)
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rs1406145019
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NM_000329.3(RPE65):c.616A>G (p.Ile206Val)
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NM_000329.3(RPE65):c.624G>T (p.Lys208Asn)
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rs1170839612
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NM_000329.3(RPE65):c.625A>T (p.Ile209Phe)
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NM_000329.3(RPE65):c.629C>G (p.Pro210Arg)
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rs757538512
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NM_000329.3(RPE65):c.638A>C (p.Gln213Pro)
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rs1224080719
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NM_000329.3(RPE65):c.641C>T (p.Ala214Val)
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NM_000329.3(RPE65):c.643+3G>A
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rs1277690393
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NM_000329.3(RPE65):c.648G>A (p.Lys216=)
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NM_000329.3(RPE65):c.650A>T (p.Glu217Val)
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rs777646597
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NM_000329.3(RPE65):c.652G>T (p.Asp218Tyr)
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NM_000329.3(RPE65):c.658A>G (p.Ile220Val)
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NM_000329.3(RPE65):c.676G>T (p.Val226Phe)
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NM_000329.3(RPE65):c.683A>C (p.Gln228Pro)
|
rs886046510
|
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NM_000329.3(RPE65):c.718G>A (p.Val240Ile)
|
rs192907397
|
|
NM_000329.3(RPE65):c.718G>T (p.Val240Phe)
|
rs192907397
|
|
NM_000329.3(RPE65):c.725+5C>T
|
rs923933222
|
|
NM_000329.3(RPE65):c.725+6T>C
|
rs2100819643
|
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NM_000329.3(RPE65):c.726-3C>A
|
|
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NM_000329.3(RPE65):c.72_73insAGGAACTGT (p.Ser24_Pro25insArgAsnCys)
|
rs2100834242
|
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NM_000329.3(RPE65):c.731G>A (p.Gly244Asp)
|
rs2100819283
|
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NM_000329.3(RPE65):c.751G>A (p.Val251Ile)
|
rs1325815513
|
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NM_000329.3(RPE65):c.755T>C (p.Phe252Ser)
|
rs1553153135
|
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NM_000329.3(RPE65):c.782T>C (p.Leu261Pro)
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|
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NM_000329.3(RPE65):c.802T>A (p.Trp268Arg)
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NM_000329.3(RPE65):c.818C>A (p.Ala273Asp)
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NM_000329.3(RPE65):c.826A>G (p.Met276Val)
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NM_000329.3(RPE65):c.82G>T (p.Ala28Ser)
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NM_000329.3(RPE65):c.83C>A (p.Ala28Asp)
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|
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NM_000329.3(RPE65):c.840G>C (p.Glu280Asp)
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|
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NM_000329.3(RPE65):c.851C>T (p.Thr284Ile)
|
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NM_000329.3(RPE65):c.853A>T (p.Met285Leu)
|
|
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NM_000329.3(RPE65):c.86A>G (p.His29Arg)
|
|
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NM_000329.3(RPE65):c.871A>G (p.Ile291Val)
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|
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NM_000329.3(RPE65):c.872T>C (p.Ile291Thr)
|
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NM_000329.3(RPE65):c.880A>G (p.Lys294Glu)
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|
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NM_000329.3(RPE65):c.902A>C (p.Asn301Thr)
|
|
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NM_000329.3(RPE65):c.922C>T (p.Pro308Ser)
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|
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NM_000329.3(RPE65):c.946A>G (p.Asn316Asp)
|
rs2100818454
|
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NM_000329.3(RPE65):c.975T>C (p.Ile325=)
|
rs761227832
|
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NM_000329.3(RPE65):c.982C>T (p.Leu328Phe)
|
rs1169420841
|
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NM_000329.3(RPE65):c.998G>A (p.Gly333Glu)
|
rs1173207597
|
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NM_000329.3(RPE65):c.999-3C>G
|
rs2100817189
|
|