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.1155G>A (p.Thr385=)
|
rs62653014
|
0.00481
|
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr)
|
rs61752901
|
0.00232
|
NM_000329.3(RPE65):c.675C>G (p.Ile225Met)
|
rs114379164
|
0.00199
|
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.496-4G>A
|
rs138146176
|
0.00069
|
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.117C>T (p.Thr39=)
|
rs143929144
|
0.00050
|
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.1435T>C (p.Leu479=)
|
rs373882259
|
0.00034
|
NM_000329.3(RPE65):c.1446T>C (p.Asp482=)
|
rs72926953
|
0.00017
|
NM_000329.3(RPE65):c.168A>G (p.Pro56=)
|
rs150260489
|
0.00016
|
NM_000329.3(RPE65):c.408C>T (p.Val136=)
|
rs373547092
|
0.00014
|
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.237C>T (p.Tyr79=)
|
rs371095928
|
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.295G>A (p.Val99Ile)
|
rs143056561
|
0.00009
|
NM_000329.3(RPE65):c.94+9C>A
|
rs747174742
|
0.00008
|
NM_000329.3(RPE65):c.95-10T>A
|
rs547374432
|
0.00007
|
NM_000329.3(RPE65):c.1244-20G>A
|
rs772290877
|
0.00006
|
NM_000329.3(RPE65):c.245+14C>T
|
rs368381348
|
0.00006
|
NM_000329.3(RPE65):c.859-10A>G
|
rs752810906
|
0.00006
|
NM_000329.3(RPE65):c.1104T>C (p.Tyr368=)
|
rs764797700
|
0.00004
|
NM_000329.3(RPE65):c.1129-5C>T
|
rs368533067
|
0.00004
|
NM_000329.3(RPE65):c.1244-17T>A
|
rs528268427
|
0.00004
|
NM_000329.3(RPE65):c.75G>A (p.Pro25=)
|
rs199529021
|
0.00004
|
NM_000329.3(RPE65):c.94+10G>A
|
rs777879312
|
0.00004
|
NM_000329.3(RPE65):c.942C>T (p.His314=)
|
rs752875512
|
0.00004
|
NM_000329.3(RPE65):c.1338+8A>G
|
rs777211540
|
0.00003
|
NM_000329.3(RPE65):c.1452T>A (p.Gly484=)
|
rs775602082
|
0.00003
|
NM_000329.3(RPE65):c.1548T>C (p.Ala516=)
|
rs546103655
|
0.00003
|
NM_000329.3(RPE65):c.246-7C>T
|
rs372100362
|
0.00003
|
NM_000329.3(RPE65):c.1243+10T>C
|
rs548537552
|
0.00002
|
NM_000329.3(RPE65):c.1431T>C (p.Asp477=)
|
rs570518981
|
0.00002
|
NM_000329.3(RPE65):c.1473G>C (p.Val491=)
|
rs748413171
|
0.00002
|
NM_000329.3(RPE65):c.1575C>T (p.Thr525=)
|
rs145318478
|
0.00002
|
NM_000329.3(RPE65):c.165G>A (p.Glu55=)
|
rs375272714
|
0.00002
|
NM_000329.3(RPE65):c.353+7G>A
|
rs773557127
|
0.00002
|
NM_000329.3(RPE65):c.402T>C (p.Val134=)
|
rs1467212381
|
0.00002
|
NM_000329.3(RPE65):c.496-5C>T
|
rs769548166
|
0.00002
|
NM_000329.3(RPE65):c.564C>T (p.Thr188=)
|
rs764476046
|
0.00002
|
NM_000329.3(RPE65):c.621A>G (p.Val207=)
|
rs746032112
|
0.00002
|
NM_000329.3(RPE65):c.747T>C (p.Tyr249=)
|
rs764888162
|
0.00002
|
NM_000329.3(RPE65):c.807T>C (p.Ser269=)
|
rs774896870
|
0.00002
|
NM_000329.3(RPE65):c.825C>T (p.Tyr275=)
|
rs988133284
|
0.00002
|
NM_000329.3(RPE65):c.105C>T (p.Pro35=)
|
rs996390276
|
0.00001
|
NM_000329.3(RPE65):c.1083C>A (p.Pro361=)
|
rs756209191
|
0.00001
|
NM_000329.3(RPE65):c.1092A>G (p.Glu364=)
|
rs751860030
|
0.00001
|
NM_000329.3(RPE65):c.1221T>C (p.Val407=)
|
rs771095890
|
0.00001
|
NM_000329.3(RPE65):c.1233G>A (p.Gly411=)
|
rs373834001
|
0.00001
|
NM_000329.3(RPE65):c.1243+18A>G
|
rs749922257
|
0.00001
|
NM_000329.3(RPE65):c.1244-6T>C
|
rs1290347377
|
0.00001
|
NM_000329.3(RPE65):c.126C>T (p.Leu42=)
|
rs148973921
|
0.00001
|
NM_000329.3(RPE65):c.1299T>C (p.Tyr433=)
|
rs763437650
|
0.00001
|
NM_000329.3(RPE65):c.1371T>C (p.Thr457=)
|
rs372273815
|
0.00001
|
NM_000329.3(RPE65):c.1398C>T (p.Tyr466=)
|
rs764189309
|
0.00001
|
NM_000329.3(RPE65):c.1407A>G (p.Glu469=)
|
rs762977154
|
0.00001
|
NM_000329.3(RPE65):c.1451-7T>C
|
rs773933584
|
0.00001
|
NM_000329.3(RPE65):c.1459C>T (p.Leu487=)
|
rs1404827828
|
0.00001
|
NM_000329.3(RPE65):c.1485A>C (p.Ala495=)
|
rs753956649
|
0.00001
|
NM_000329.3(RPE65):c.1581T>C (p.His527=)
|
rs768915904
|
0.00001
|
NM_000329.3(RPE65):c.264T>C (p.Ala88=)
|
rs771159132
|
0.00001
|
NM_000329.3(RPE65):c.267C>T (p.Tyr89=)
|
rs372620785
|
0.00001
|
NM_000329.3(RPE65):c.327A>G (p.Pro109=)
|
rs1356737522
|
0.00001
|
NM_000329.3(RPE65):c.354-7T>C
|
rs776756253
|
0.00001
|
NM_000329.3(RPE65):c.375A>G (p.Gly125=)
|
rs992113946
|
0.00001
|
NM_000329.3(RPE65):c.450C>T (p.Asn150=)
|
rs370004418
|
0.00001
|
NM_000329.3(RPE65):c.45G>T (p.Leu15=)
|
rs1292301823
|
0.00001
|
NM_000329.3(RPE65):c.495+10A>G
|
rs1186657454
|
0.00001
|
NM_000329.3(RPE65):c.496-10A>C
|
rs372059562
|
0.00001
|
NM_000329.3(RPE65):c.496-14C>T
|
rs763256793
|
0.00001
|
NM_000329.3(RPE65):c.576T>A (p.Ile192=)
|
rs747122876
|
0.00001
|
NM_000329.3(RPE65):c.624G>A (p.Lys208=)
|
rs1170839612
|
0.00001
|
NM_000329.3(RPE65):c.634C>T (p.Leu212=)
|
rs1020549411
|
0.00001
|
NM_000329.3(RPE65):c.63A>G (p.Glu21=)
|
rs1043155791
|
0.00001
|
NM_000329.3(RPE65):c.643+10C>A
|
rs758825902
|
0.00001
|
NM_000329.3(RPE65):c.643+19C>T
|
rs371106770
|
0.00001
|
NM_000329.3(RPE65):c.717C>T (p.Tyr239=)
|
rs1366781286
|
0.00001
|
NM_000329.3(RPE65):c.726-19C>A
|
rs1219424509
|
0.00001
|
NM_000329.3(RPE65):c.726-9T>C
|
rs751054481
|
0.00001
|
NM_000329.3(RPE65):c.750C>T (p.Ile250=)
|
rs759403626
|
0.00001
|
NM_000329.3(RPE65):c.774A>G (p.Lys258=)
|
rs1264648487
|
0.00001
|
NM_000329.3(RPE65):c.777T>C (p.Ile259=)
|
rs762186209
|
0.00001
|
NM_000329.3(RPE65):c.783G>T (p.Leu261=)
|
rs188493184
|
0.00001
|
NM_000329.3(RPE65):c.798T>C (p.Ser266=)
|
rs1645882700
|
0.00001
|
NM_000329.3(RPE65):c.822C>T (p.Asn274=)
|
rs777207027
|
0.00001
|
NM_000329.3(RPE65):c.886A>C (p.Arg296=)
|
rs1399365841
|
0.00001
|
NM_000329.3(RPE65):c.888G>A (p.Arg296=)
|
rs778422718
|
0.00001
|
NM_000329.3(RPE65):c.894G>A (p.Lys298=)
|
rs768068723
|
0.00001
|
NM_000329.3(RPE65):c.957A>G (p.Glu319=)
|
rs753954638
|
0.00001
|
NM_000329.3(RPE65):c.987C>T (p.Cys329=)
|
rs1250396948
|
0.00001
|
NM_000329.3(RPE65):c.1017T>C (p.Asn339=)
|
rs780869180
|
|
NM_000329.3(RPE65):c.1020C>T (p.Tyr340=)
|
rs2100817149
|
|
NM_000329.3(RPE65):c.1023A>G (p.Leu341=)
|
|
|
NM_000329.3(RPE65):c.1062A>G (p.Lys354=)
|
rs2100817026
|
|
NM_000329.3(RPE65):c.1065A>G (p.Lys355=)
|
|
|
NM_000329.3(RPE65):c.1071C>G (p.Ala357=)
|
|
|
NM_000329.3(RPE65):c.1072A>C (p.Arg358=)
|
rs1307155552
|
|
NM_000329.3(RPE65):c.1077G>A (p.Lys359=)
|
|
|
NM_000329.3(RPE65):c.108C>T (p.Leu36=)
|
rs749757610
|
|
NM_000329.3(RPE65):c.1098G>A (p.Arg366=)
|
rs764589805
|
|
NM_000329.3(RPE65):c.11+10T>C
|
|
|
NM_000329.3(RPE65):c.11+12T>C
|
|
|
NM_000329.3(RPE65):c.11+13G>A
|
|
|
NM_000329.3(RPE65):c.11+17G>A
|
|
|
NM_000329.3(RPE65):c.11+18A>T
|
|
|
NM_000329.3(RPE65):c.1119T>C (p.Asn373=)
|
|
|
NM_000329.3(RPE65):c.1122T>C (p.Ile374=)
|
|
|
NM_000329.3(RPE65):c.1125C>T (p.Asp375=)
|
rs771869960
|
|
NM_000329.3(RPE65):c.1128+20A>G
|
|
|
NM_000329.3(RPE65):c.1128+7T>C
|
|
|
NM_000329.3(RPE65):c.1129-12C>G
|
|
|
NM_000329.3(RPE65):c.1129-13T>A
|
rs374162988
|
|
NM_000329.3(RPE65):c.1129-16T>G
|
|
|
NM_000329.3(RPE65):c.1129-18T>G
|
|
|
NM_000329.3(RPE65):c.1129-7C>G
|
|
|
NM_000329.3(RPE65):c.1137A>G (p.Thr379=)
|
rs2100808086
|
|
NM_000329.3(RPE65):c.1149A>G (p.Leu383=)
|
rs2100808067
|
|
NM_000329.3(RPE65):c.1152C>G (p.Val384=)
|
rs1571158917
|
|
NM_000329.3(RPE65):c.1158C>T (p.Leu386=)
|
rs2100808030
|
|
NM_000329.3(RPE65):c.1161C>T (p.Pro387=)
|
|
|
NM_000329.3(RPE65):c.1167A>C (p.Thr389=)
|
rs2100807982
|
|
NM_000329.3(RPE65):c.1179A>C (p.Ala393=)
|
|
|
NM_000329.3(RPE65):c.1179A>G (p.Ala393=)
|
|
|
NM_000329.3(RPE65):c.117C>G (p.Thr39=)
|
rs143929144
|
|
NM_000329.3(RPE65):c.1185G>C (p.Leu395=)
|
|
|
NM_000329.3(RPE65):c.12-7A>G
|
rs1645960187
|
|
NM_000329.3(RPE65):c.1209G>A (p.Leu403=)
|
|
|
NM_000329.3(RPE65):c.1215T>A (p.Pro405=)
|
|
|
NM_000329.3(RPE65):c.1218A>G (p.Glu406=)
|
rs1571158792
|
|
NM_000329.3(RPE65):c.1230A>C (p.Ser410=)
|
|
|
NM_000329.3(RPE65):c.1243+14G>A
|
|
|
NM_000329.3(RPE65):c.1243+16G>A
|
|
|
NM_000329.3(RPE65):c.1243+7T>C
|
|
|
NM_000329.3(RPE65):c.1243+8G>A
|
|
|
NM_000329.3(RPE65):c.1243+8G>C
|
|
|
NM_000329.3(RPE65):c.1243+9A>T
|
rs375375768
|
|
NM_000329.3(RPE65):c.1244-19C>A
|
|
|
NM_000329.3(RPE65):c.1244-19C>T
|
|
|
NM_000329.3(RPE65):c.1244-4G>A
|
|
|
NM_000329.3(RPE65):c.1244-4G>T
|
|
|
NM_000329.3(RPE65):c.1244-9A>G
|
rs1042120764
|
|
NM_000329.3(RPE65):c.1245A>G (p.Ala415=)
|
|
|
NM_000329.3(RPE65):c.1248T>C (p.Phe416=)
|
rs780625967
|
|
NM_000329.3(RPE65):c.1251G>A (p.Glu417=)
|
|
|
NM_000329.3(RPE65):c.1254T>C (p.Phe418=)
|
rs756785114
|
|
NM_000329.3(RPE65):c.1269C>T (p.Tyr423=)
|
rs1355323529
|
|
NM_000329.3(RPE65):c.126C>G (p.Leu42=)
|
rs148973921
|
|
NM_000329.3(RPE65):c.1278T>C (p.Tyr426=)
|
|
|
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.1302G>T (p.Ala434=)
|
|
|
NM_000329.3(RPE65):c.1305T>C (p.Tyr435=)
|
|
|
NM_000329.3(RPE65):c.1314C>A (p.Gly438=)
|
|
|
NM_000329.3(RPE65):c.1335T>C (p.Asp445=)
|
rs746506594
|
|
NM_000329.3(RPE65):c.1338+10C>T
|
rs2100807260
|
|
NM_000329.3(RPE65):c.1338+11C>G
|
|
|
NM_000329.3(RPE65):c.1338+13T>C
|
|
|
NM_000329.3(RPE65):c.1338+15T>C
|
|
|
NM_000329.3(RPE65):c.1338+17A>T
|
|
|
NM_000329.3(RPE65):c.1338+19T>A
|
|
|
NM_000329.3(RPE65):c.1338+9T>A
|
rs2100807262
|
|
NM_000329.3(RPE65):c.1339-11C>T
|
|
|
NM_000329.3(RPE65):c.1339-4del
|
|
|
NM_000329.3(RPE65):c.1341C>G (p.Leu447=)
|
rs2100807097
|
|
NM_000329.3(RPE65):c.1395A>G (p.Ser465=)
|
rs764923358
|
|
NM_000329.3(RPE65):c.1401A>G (p.Pro467=)
|
|
|
NM_000329.3(RPE65):c.1450+10G>A
|
rs1009277050
|
|
NM_000329.3(RPE65):c.1450+13A>C
|
rs371783875
|
|
NM_000329.3(RPE65):c.1450+13A>G
|
|
|
NM_000329.3(RPE65):c.1450+19G>C
|
|
|
NM_000329.3(RPE65):c.1450+20T>C
|
|
|
NM_000329.3(RPE65):c.1450+20T>G
|
|
|
NM_000329.3(RPE65):c.1451-6A>T
|
rs2100805367
|
|
NM_000329.3(RPE65):c.1451-9G>C
|
rs1291761354
|
|
NM_000329.3(RPE65):c.1455A>G (p.Val485=)
|
|
|
NM_000329.3(RPE65):c.1458T>A (p.Val486=)
|
rs2100805312
|
|
NM_000329.3(RPE65):c.1461G>C (p.Leu487=)
|
|
|
NM_000329.3(RPE65):c.1464T>C (p.Ser488=)
|
rs769814819
|
|
NM_000329.3(RPE65):c.1473G>A (p.Val491=)
|
|
|
NM_000329.3(RPE65):c.1476C>T (p.Ser492=)
|
rs778912170
|
|
NM_000329.3(RPE65):c.1491A>G (p.Gln497=)
|
rs766848627
|
|
NM_000329.3(RPE65):c.1509G>A (p.Leu503=)
|
rs750750345
|
|
NM_000329.3(RPE65):c.1513C>T (p.Leu505=)
|
|
|
NM_000329.3(RPE65):c.1515G>A (p.Leu505=)
|
rs2100805164
|
|
NM_000329.3(RPE65):c.1518T>C (p.Asn506=)
|
rs2100805159
|
|
NM_000329.3(RPE65):c.1524G>A (p.Lys508=)
|
rs369335287
|
|
NM_000329.3(RPE65):c.1528T>C (p.Leu510=)
|
|
|
NM_000329.3(RPE65):c.1545G>A (p.Arg515=)
|
rs2100805075
|
|
NM_000329.3(RPE65):c.1554G>A (p.Val518=)
|
|
|
NM_000329.3(RPE65):c.1560T>A (p.Ile520=)
|
|
|
NM_000329.3(RPE65):c.1563C>T (p.Asn521=)
|
|
|
NM_000329.3(RPE65):c.156T>G (p.Val52=)
|
rs1645945856
|
|
NM_000329.3(RPE65):c.1578T>C (p.Phe526=)
|
|
|
NM_000329.3(RPE65):c.1584A>G (p.Gly528=)
|
rs2100804966
|
|
NM_000329.3(RPE65):c.1587G>C (p.Leu529=)
|
|
|
NM_000329.3(RPE65):c.1596A>G (p.Lys532=)
|
|
|
NM_000329.3(RPE65):c.162T>C (p.Ser54=)
|
rs2100831350
|
|
NM_000329.3(RPE65):c.174C>T (p.Tyr58=)
|
|
|
NM_000329.3(RPE65):c.180G>C (p.Leu60=)
|
rs2100831297
|
|
NM_000329.3(RPE65):c.198C>T (p.Leu66=)
|
|
|
NM_000329.3(RPE65):c.199C>T (p.Leu67=)
|
rs1219400458
|
|
NM_000329.3(RPE65):c.213C>T (p.Asp71=)
|
rs1297442944
|
|
NM_000329.3(RPE65):c.219A>G (p.Lys73=)
|
|
|
NM_000329.3(RPE65):c.225A>G (p.Gly75=)
|
|
|
NM_000329.3(RPE65):c.225A>T (p.Gly75=)
|
|
|
NM_000329.3(RPE65):c.234A>G (p.Thr78=)
|
|
|
NM_000329.3(RPE65):c.240C>T (p.His80=)
|
|
|
NM_000329.3(RPE65):c.243A>G (p.Arg81=)
|
|
|
NM_000329.3(RPE65):c.245+11del
|
|
|
NM_000329.3(RPE65):c.245+18G>A
|
|
|
NM_000329.3(RPE65):c.245+7C>G
|
|
|
NM_000329.3(RPE65):c.246-12A>G
|
|
|
NM_000329.3(RPE65):c.246-24_246-20del
|
rs752554231
|
|
NM_000329.3(RPE65):c.24T>C (p.Pro8=)
|
rs2100834378
|
|
NM_000329.3(RPE65):c.252C>A (p.Ile84=)
|
rs1645931175
|
|
NM_000329.3(RPE65):c.270A>G (p.Val90=)
|
|
|
NM_000329.3(RPE65):c.291G>A (p.Arg97=)
|
rs754533608
|
|
NM_000329.3(RPE65):c.294C>A (p.Ile98=)
|
rs367983478
|
|
NM_000329.3(RPE65):c.294C>T (p.Ile98=)
|
rs367983478
|
|
NM_000329.3(RPE65):c.297C>T (p.Val99=)
|
rs2100828363
|
|
NM_000329.3(RPE65):c.303A>G (p.Thr101=)
|
rs2100828338
|
|
NM_000329.3(RPE65):c.318T>C (p.Cys106=)
|
|
|
NM_000329.3(RPE65):c.353+10C>T
|
rs2100828143
|
|
NM_000329.3(RPE65):c.353+11C>G
|
|
|
NM_000329.3(RPE65):c.353+14A>C
|
|
|
NM_000329.3(RPE65):c.353+15A>G
|
|
|
NM_000329.3(RPE65):c.353+20A>T
|
|
|
NM_000329.3(RPE65):c.353+8A>C
|
|
|
NM_000329.3(RPE65):c.353+8A>G
|
rs1645929465
|
|
NM_000329.3(RPE65):c.354-10G>T
|
|
|
NM_000329.3(RPE65):c.354-15C>T
|
|
|
NM_000329.3(RPE65):c.366C>T (p.Tyr122=)
|
rs1479443954
|
|
NM_000329.3(RPE65):c.372A>C (p.Arg124=)
|
rs2100827903
|
|
NM_000329.3(RPE65):c.390C>T (p.Asp130=)
|
rs2100827854
|
|
NM_000329.3(RPE65):c.414A>C (p.Pro138=)
|
rs777483146
|
|
NM_000329.3(RPE65):c.417G>T (p.Val139=)
|
rs536073181
|
|
NM_000329.3(RPE65):c.420G>A (p.Gly140=)
|
rs1571170264
|
|
NM_000329.3(RPE65):c.435T>C (p.Ala145=)
|
rs2100827657
|
|
NM_000329.3(RPE65):c.447C>A (p.Thr149=)
|
|
|
NM_000329.3(RPE65):c.447C>T (p.Thr149=)
|
rs750892483
|
|
NM_000329.3(RPE65):c.456T>C (p.Ile152=)
|
|
|
NM_000329.3(RPE65):c.459A>C (p.Thr153=)
|
|
|
NM_000329.3(RPE65):c.471A>T (p.Pro157=)
|
|
|
NM_000329.3(RPE65):c.495+12T>C
|
|
|
NM_000329.3(RPE65):c.495+13G>A
|
|
|
NM_000329.3(RPE65):c.495+7C>T
|
|
|
NM_000329.3(RPE65):c.495+8A>G
|
rs780898366
|
|
NM_000329.3(RPE65):c.496-12T>C
|
|
|
NM_000329.3(RPE65):c.496-19A>G
|
|
|
NM_000329.3(RPE65):c.498T>C (p.Val166=)
|
|
|
NM_000329.3(RPE65):c.501T>C (p.Asp167=)
|
rs2100821961
|
|
NM_000329.3(RPE65):c.513T>C (p.Tyr171=)
|
|
|
NM_000329.3(RPE65):c.528G>A (p.Gly176=)
|
|
|
NM_000329.3(RPE65):c.528G>C (p.Gly176=)
|
|
|
NM_000329.3(RPE65):c.576T>C (p.Ile192=)
|
rs747122876
|
|
NM_000329.3(RPE65):c.579T>G (p.Gly193=)
|
rs2100821713
|
|
NM_000329.3(RPE65):c.609C>T (p.Ala203=)
|
rs61752886
|
|
NM_000329.3(RPE65):c.612C>T (p.Tyr204=)
|
rs1557600983
|
|
NM_000329.3(RPE65):c.627C>A (p.Ile209=)
|
rs1408756289
|
|
NM_000329.3(RPE65):c.633A>G (p.Pro211=)
|
|
|
NM_000329.3(RPE65):c.636G>A (p.Leu212=)
|
|
|
NM_000329.3(RPE65):c.643+15C>A
|
|
|
NM_000329.3(RPE65):c.643+18T>C
|
|
|
NM_000329.3(RPE65):c.643+19C>A
|
|
|
NM_000329.3(RPE65):c.643+20C>T
|
|
|
NM_000329.3(RPE65):c.643+9del
|
|
|
NM_000329.3(RPE65):c.644-13C>T
|
|
|
NM_000329.3(RPE65):c.644-14C>G
|
rs1645886573
|
|
NM_000329.3(RPE65):c.644-14C>T
|
|
|
NM_000329.3(RPE65):c.644-43del
|
rs61752894
|
|
NM_000329.3(RPE65):c.644-7A>C
|
|
|
NM_000329.3(RPE65):c.644-9T>G
|
rs2100819936
|
|
NM_000329.3(RPE65):c.645C>T (p.Asp215=)
|
rs1202083660
|
|
NM_000329.3(RPE65):c.64C>T (p.Leu22=)
|
rs754228407
|
|
NM_000329.3(RPE65):c.675C>T (p.Ile225=)
|
rs114379164
|
|
NM_000329.3(RPE65):c.678T>C (p.Val226=)
|
|
|
NM_000329.3(RPE65):c.690C>T (p.Pro230=)
|
|
|
NM_000329.3(RPE65):c.69C>T (p.Ser23=)
|
rs1645959675
|
|
NM_000329.3(RPE65):c.708G>A (p.Lys236=)
|
rs2100819732
|
|
NM_000329.3(RPE65):c.711A>G (p.Pro237=)
|
|
|
NM_000329.3(RPE65):c.714T>C (p.Ser238=)
|
rs1159440503
|
|
NM_000329.3(RPE65):c.723T>C (p.His241=)
|
|
|
NM_000329.3(RPE65):c.725+12G>T
|
|
|
NM_000329.3(RPE65):c.725+19A>G
|
|
|
NM_000329.3(RPE65):c.725+20T>C
|
|
|
NM_000329.3(RPE65):c.725+8G>A
|
rs1286528844
|
|
NM_000329.3(RPE65):c.725+8G>C
|
rs1286528844
|
|
NM_000329.3(RPE65):c.725+9A>G
|
rs111518661
|
|
NM_000329.3(RPE65):c.726-13T>C
|
|
|
NM_000329.3(RPE65):c.726-16T>C
|
rs2100819317
|
|
NM_000329.3(RPE65):c.726-17T>C
|
|
|
NM_000329.3(RPE65):c.726-20C>T
|
|
|
NM_000329.3(RPE65):c.72G>A (p.Ser24=)
|
rs1282164855
|
|
NM_000329.3(RPE65):c.72G>C (p.Ser24=)
|
rs1282164855
|
|
NM_000329.3(RPE65):c.72G>T (p.Ser24=)
|
|
|
NM_000329.3(RPE65):c.735G>C (p.Leu245=)
|
rs2100819271
|
|
NM_000329.3(RPE65):c.744C>T (p.Asn248=)
|
rs1343005273
|
|
NM_000329.3(RPE65):c.768A>C (p.Pro256=)
|
|
|
NM_000329.3(RPE65):c.786C>T (p.Phe262=)
|
|
|
NM_000329.3(RPE65):c.78C>T (p.Leu26=)
|
|
|
NM_000329.3(RPE65):c.798T>A (p.Ser266=)
|
rs1645882700
|
|
NM_000329.3(RPE65):c.819C>T (p.Ala273=)
|
rs2100819102
|
|
NM_000329.3(RPE65):c.84T>C (p.Ala28=)
|
|
|
NM_000329.3(RPE65):c.852C>T (p.Thr284=)
|
|
|
NM_000329.3(RPE65):c.858+10A>C
|
rs2100818982
|
|
NM_000329.3(RPE65):c.858+13T>C
|
rs2100818973
|
|
NM_000329.3(RPE65):c.858+14A>G
|
|
|
NM_000329.3(RPE65):c.858+15T>C
|
|
|
NM_000329.3(RPE65):c.859-13C>T
|
|
|
NM_000329.3(RPE65):c.859-17T>G
|
rs1418885901
|
|
NM_000329.3(RPE65):c.859-19A>G
|
|
|
NM_000329.3(RPE65):c.859-4C>G
|
rs1571165470
|
|
NM_000329.3(RPE65):c.879C>T (p.Asp293=)
|
|
|
NM_000329.3(RPE65):c.87T>C (p.His29=)
|
|
|
NM_000329.3(RPE65):c.882A>G (p.Lys294=)
|
rs1381189679
|
|
NM_000329.3(RPE65):c.885A>G (p.Lys295=)
|
|
|
NM_000329.3(RPE65):c.90A>G (p.Val30=)
|
rs2100834158
|
|
NM_000329.3(RPE65):c.94+10G>C
|
|
|
NM_000329.3(RPE65):c.94+10G>T
|
rs777879312
|
|
NM_000329.3(RPE65):c.94+11C>A
|
|
|
NM_000329.3(RPE65):c.94+13C>T
|
|
|
NM_000329.3(RPE65):c.94+14A>G
|
|
|
NM_000329.3(RPE65):c.94+15T>C
|
|
|
NM_000329.3(RPE65):c.94+17T>A
|
|
|
NM_000329.3(RPE65):c.94+18T>G
|
rs748142481
|
|
NM_000329.3(RPE65):c.94+9C>T
|
rs747174742
|
|
NM_000329.3(RPE65):c.945C>T (p.Ile315=)
|
|
|
NM_000329.3(RPE65):c.948C>T (p.Asn316=)
|
rs2100818448
|
|
NM_000329.3(RPE65):c.95-12C>A
|
|
|
NM_000329.3(RPE65):c.95-13C>T
|
|
|
NM_000329.3(RPE65):c.95-14C>G
|
|
|
NM_000329.3(RPE65):c.95-14C>T
|
|
|
NM_000329.3(RPE65):c.95-15_95-13dup
|
|
|
NM_000329.3(RPE65):c.95-18G>C
|
|
|
NM_000329.3(RPE65):c.95-5C>T
|
rs2100831568
|
|
NM_000329.3(RPE65):c.95-8C>T
|
|
|
NM_000329.3(RPE65):c.951C>T (p.Thr317=)
|
rs1645880052
|
|
NM_000329.3(RPE65):c.954T>C (p.Tyr318=)
|
rs1444997062
|
|
NM_000329.3(RPE65):c.960C>T (p.Asp320=)
|
|
|
NM_000329.3(RPE65):c.963T>C (p.Asn321=)
|
|
|
NM_000329.3(RPE65):c.966G>A (p.Gly322=)
|
rs1400399381
|
|
NM_000329.3(RPE65):c.96C>G (p.Gly32=)
|
rs2100831551
|
|
NM_000329.3(RPE65):c.972G>C (p.Leu324=)
|
|
|
NM_000329.3(RPE65):c.972G>T (p.Leu324=)
|
rs2100818359
|
|
NM_000329.3(RPE65):c.975T>C (p.Ile325=)
|
rs761227832
|
|
NM_000329.3(RPE65):c.981T>C (p.Asp327=)
|
rs2100818330
|
|
NM_000329.3(RPE65):c.996A>G (p.Lys332=)
|
rs2100818284
|
|
NM_000329.3(RPE65):c.998+11A>G
|
|
|
NM_000329.3(RPE65):c.998+12C>T
|
|
|
NM_000329.3(RPE65):c.998+13A>C
|
|
|
NM_000329.3(RPE65):c.998+15T>C
|
|
|
NM_000329.3(RPE65):c.998+16G>A
|
|
|
NM_000329.3(RPE65):c.998+20A>G
|
|
|
NM_000329.3(RPE65):c.999-10_999-9del
|
rs2100817210
|
|
NM_000329.3(RPE65):c.999-12T>C
|
|
|
NM_000329.3(RPE65):c.999-17A>G
|
|
|
NM_000329.3(RPE65):c.999-7T>C
|
|
|
NM_000329.3(RPE65):c.99G>A (p.Arg33=)
|
|
|