ClinVar Miner

List of variants studied for Leber congenital amaurosis 2

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 824
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HGVS dbSNP gnomAD frequency
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.95-18G>A rs75886344 0.00747
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.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.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.963T>G (p.Asn321Lys) rs149916178 0.00054
NM_000329.3(RPE65):c.117C>T (p.Thr39=) rs143929144 0.00050
NM_000329.3(RPE65):c.*588C>A rs541546843 0.00048
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.*886T>C rs111811751 0.00019
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.11+5G>A rs61751276 0.00014
NM_000329.3(RPE65):c.408C>T (p.Val136=) rs373547092 0.00014
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu) rs1191496583 0.00014
NM_000329.3(RPE65):c.298A>C (p.Ile100Leu) rs142626873 0.00013
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.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.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.94+9C>A rs747174742 0.00008
NM_000329.3(RPE65):c.585C>T (p.Cys195=) rs571111378 0.00007
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.1086A>G (p.Gln362=) rs750890448 0.00006
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.1244-20G>A rs772290877 0.00006
NM_000329.3(RPE65):c.245+14C>T rs368381348 0.00006
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871 0.00006
NM_000329.3(RPE65):c.859-10A>G rs752810906 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.1104T>C (p.Tyr368=) rs764797700 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.1244-17T>A rs528268427 0.00004
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln) rs61751282 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.65T>C (p.Leu22Pro) rs61751277 0.00004
NM_000329.3(RPE65):c.75G>A (p.Pro25=) rs199529021 0.00004
NM_000329.3(RPE65):c.845A>G (p.Asn282Ser) rs144612129 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.118G>A (p.Gly40Ser) rs61751281 0.00003
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.1452T>A (p.Gly484=) rs775602082 0.00003
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) rs121917745 0.00003
NM_000329.3(RPE65):c.1548T>C (p.Ala516=) rs546103655 0.00003
NM_000329.3(RPE65):c.224G>A (p.Gly75Glu) rs201062742 0.00003
NM_000329.3(RPE65):c.246-7C>T rs372100362 0.00003
NM_000329.3(RPE65):c.331C>T (p.Pro111Ser) rs886042220 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.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.1243+10T>C rs548537552 0.00002
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) rs368088025 0.00002
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser) rs1420672586 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.1473G>C (p.Val491=) rs748413171 0.00002
NM_000329.3(RPE65):c.1544G>A (p.Arg515Gln) rs559975684 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.304G>T (p.Glu102Ter) rs62642584 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.715T>G (p.Tyr239Asp) rs61752896 0.00002
NM_000329.3(RPE65):c.747T>C (p.Tyr249=) rs764888162 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.825C>T (p.Tyr275=) rs988133284 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.1034A>G (p.Asn345Ser) rs769440649 0.00001
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.11+2T>G rs778768116 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.1221T>C (p.Val407=) rs771095890 0.00001
NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro) rs62636298 0.00001
NM_000329.3(RPE65):c.1233G>A (p.Gly411=) rs373834001 0.00001
NM_000329.3(RPE65):c.1235C>T (p.Pro412Leu) rs199613555 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.1249G>C (p.Glu417Gln) rs62636299 0.00001
NM_000329.3(RPE65):c.124C>T (p.Leu42Phe) rs750724065 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.1334A>G (p.Asp445Gly) rs1645824155 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.1399C>G (p.Pro467Ala) rs1395763356 0.00001
NM_000329.3(RPE65):c.1407A>G (p.Glu469=) rs762977154 0.00001
NM_000329.3(RPE65):c.1445A>G (p.Asp482Gly) rs749242996 0.00001
NM_000329.3(RPE65):c.1451-7T>C rs773933584 0.00001
NM_000329.3(RPE65):c.1451G>T (p.Gly484Val) rs62653015 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.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.1581T>C (p.His527=) rs768915904 0.00001
NM_000329.3(RPE65):c.1597T>A (p.Ser533Thr) rs577335767 0.00001
NM_000329.3(RPE65):c.235T>C (p.Tyr79His) rs61752869 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.2T>C (p.Met1Thr) rs281865285 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.327A>G (p.Pro109=) rs1356737522 0.00001
NM_000329.3(RPE65):c.329A>G (p.Asp110Gly) rs1571170561 0.00001
NM_000329.3(RPE65):c.344T>C (p.Ile115Thr) rs1645929674 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.417G>A (p.Val139=) rs536073181 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.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.494A>T (p.Gln165Leu) rs745338004 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.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.563C>T (p.Thr188Ile) rs1196428445 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.644-2A>C rs61752891 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.717C>T (p.Tyr239=) rs1366781286 0.00001
NM_000329.3(RPE65):c.725+2T>A rs1355979496 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.743A>G (p.Asn248Ser) rs758264644 0.00001
NM_000329.3(RPE65):c.744C>A (p.Asn248Lys) rs1343005273 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.7A>G (p.Ile3Val) rs777461552 0.00001
NM_000329.3(RPE65):c.822C>T (p.Asn274=) rs777207027 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.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.907A>T (p.Lys303Ter) rs61752904 0.00001
NM_000329.3(RPE65):c.909A>C (p.Lys303Asn) rs756160706 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.953A>G (p.Tyr318Cys) rs761284021 0.00001
NM_000329.3(RPE65):c.957A>G (p.Glu319=) rs753954638 0.00001
NM_000329.3(RPE65):c.975T>G (p.Ile325Met) rs761227832 0.00001
NM_000329.3(RPE65):c.987C>T (p.Cys329=) rs1250396948 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
NC_000001.10:g.(?_68895449)_(68915598_?)del
NC_000001.10:g.(?_68895459)_(68915588_?)dup
NC_000001.10:g.(?_68910194)_(68912563_?)del
NC_000001.10:g.(?_68912383)_(68912553_?)del
NC_000001.10:g.(?_68914307)_(68919076_?)dup
NC_000001.11:g.(?_68438187)_(68484090_?)del
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.1002del (p.Phe334fs)
NM_000329.3(RPE65):c.1004A>T (p.Glu335Val) rs1571164534
NM_000329.3(RPE65):c.1004_1005del (p.Glu335fs)
NM_000329.3(RPE65):c.1013A>G (p.Tyr338Cys) rs1645875407
NM_000329.3(RPE65):c.1017T>C (p.Asn339=) rs780869180
NM_000329.3(RPE65):c.101T>C (p.Ile34Thr)
NM_000329.3(RPE65):c.1020C>T (p.Tyr340=) rs2100817149
NM_000329.3(RPE65):c.1023A>G (p.Leu341=)
NM_000329.3(RPE65):c.1028T>G (p.Leu343Ter) rs2100817136
NM_000329.3(RPE65):c.1031C>T (p.Ala344Val)
NM_000329.3(RPE65):c.1038A>C (p.Leu346Phe) rs2100817108
NM_000329.3(RPE65):c.1039C>T (p.Arg347Cys)
NM_000329.3(RPE65):c.1040G>A (p.Arg347His) rs562037932
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.1059dup (p.Lys354fs) rs2100817031
NM_000329.3(RPE65):c.1060A>G (p.Lys354Glu)
NM_000329.3(RPE65):c.1062A>G (p.Lys354=) rs2100817026
NM_000329.3(RPE65):c.1065A>G (p.Lys355=)
NM_000329.3(RPE65):c.1067del (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.1067dup (p.Asn356fs) rs281865520
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.1078G>A (p.Ala360Thr) rs62646883
NM_000329.3(RPE65):c.1078G>C (p.Ala360Pro) rs62646883
NM_000329.3(RPE65):c.1088C>A (p.Pro363His)
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.1098G>C (p.Arg366Ser) rs764589805
NM_000329.3(RPE65):c.10C>T (p.Gln4Ter)
NM_000329.3(RPE65):c.10del (p.Gln4fs) rs747393487
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.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.1115dup (p.Leu372fs) rs2100816844
NM_000329.3(RPE65):c.1118A>G (p.Asn373Ser) rs1645874179
NM_000329.3(RPE65):c.1119T>C (p.Asn373=)
NM_000329.3(RPE65):c.1122T>C (p.Ile374=)
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.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.1148T>G (p.Leu383Ter)
NM_000329.3(RPE65):c.1149A>G (p.Leu383=) rs2100808067
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.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.1169C>T (p.Thr390Ile) rs1645826475
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.1183C>A (p.Leu395Met)
NM_000329.3(RPE65):c.1185G>C (p.Leu395=)
NM_000329.3(RPE65):c.1190G>A (p.Ser397Asn)
NM_000329.3(RPE65):c.119G>A (p.Gly40Asp)
NM_000329.3(RPE65):c.12-1G>C rs1348031618
NM_000329.3(RPE65):c.12-2A>T
NM_000329.3(RPE65):c.12-7A>G rs1645960187
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.1207_1210dup (p.Glu404fs) rs62636295
NM_000329.3(RPE65):c.1209G>A (p.Leu403=)
NM_000329.3(RPE65):c.1209_1210insCTGG (p.Glu404fs) rs1645826120
NM_000329.3(RPE65):c.1213C>G (p.Pro405Ala)
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.1234C>T (p.Pro412Ser)
NM_000329.3(RPE65):c.1243+14G>A
NM_000329.3(RPE65):c.1243+16G>A
NM_000329.3(RPE65):c.1243+1G>A rs1421696563
NM_000329.3(RPE65):c.1243+1G>C
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.1243G>A (p.Ala415Thr) rs1571158755
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.1250A>G (p.Glu417Gly)
NM_000329.3(RPE65):c.1251G>A (p.Glu417=)
NM_000329.3(RPE65):c.1254T>C (p.Phe418=) rs756785114
NM_000329.3(RPE65):c.1265A>G (p.Asn422Ser)
NM_000329.3(RPE65):c.1269C>A (p.Tyr423Ter)
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.1282_1303del (p.Gly428fs)
NM_000329.3(RPE65):c.1291T>C (p.Tyr431His)
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys) rs62636300
NM_000329.3(RPE65):c.1293C>A (p.Tyr431Ter)
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.1299T>A (p.Tyr433Ter)
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.1302G>T (p.Ala434=)
NM_000329.3(RPE65):c.1305T>C (p.Tyr435=)
NM_000329.3(RPE65):c.1307G>A (p.Gly436Glu) rs62637002
NM_000329.3(RPE65):c.1314C>A (p.Gly438=)
NM_000329.3(RPE65):c.131G>C (p.Arg44Pro)
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.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+1G>A rs1057518922
NM_000329.3(RPE65):c.1338+3A>T rs1645824066
NM_000329.3(RPE65):c.1338+9T>A rs2100807262
NM_000329.3(RPE65):c.1339-11C>T
NM_000329.3(RPE65):c.1339-1G>C
NM_000329.3(RPE65):c.1339-2A>G
NM_000329.3(RPE65):c.1339-3C>G
NM_000329.3(RPE65):c.1339-4del
NM_000329.3(RPE65):c.1341C>G (p.Leu447=) rs2100807097
NM_000329.3(RPE65):c.1345A>T (p.Lys449Ter)
NM_000329.3(RPE65):c.1357A>G (p.Lys453Glu)
NM_000329.3(RPE65):c.1359A>T (p.Lys453Asn)
NM_000329.3(RPE65):c.1360del (p.Thr454fs) rs2100807036
NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter) rs1645823028
NM_000329.3(RPE65):c.1380G>T (p.Trp460Cys) 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.1395A>G (p.Ser465=) rs764923358
NM_000329.3(RPE65):c.1396_1397dup (p.Pro467fs)
NM_000329.3(RPE65):c.1398C>A (p.Tyr466Ter)
NM_000329.3(RPE65):c.1399C>A (p.Pro467Thr) rs1395763356
NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser) rs1395763356
NM_000329.3(RPE65):c.1401A>G (p.Pro467=)
NM_000329.3(RPE65):c.1402T>A (p.Ser468Thr) rs2100806926
NM_000329.3(RPE65):c.1404_1413del (p.Glu469fs) rs2100806889
NM_000329.3(RPE65):c.1409C>A (p.Pro470His) rs774211361
NM_000329.3(RPE65):c.1409C>T (p.Pro470Leu) rs774211361
NM_000329.3(RPE65):c.1412T>C (p.Ile471Thr)
NM_000329.3(RPE65):c.1418T>A (p.Val473Asp) rs62637007
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.142_143del (p.Gly48fs)
NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly) rs1571158279
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+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.1450+3A>G
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.1451-6A>T rs2100805367
NM_000329.3(RPE65):c.1451-9G>C rs1291761354
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp) rs62653015
NM_000329.3(RPE65):c.1455A>G (p.Val485=)
NM_000329.3(RPE65):c.1456G>A (p.Val486Ile)
NM_000329.3(RPE65):c.1456G>T (p.Val486Phe) rs2100805317
NM_000329.3(RPE65):c.1458T>A (p.Val486=) rs2100805312
NM_000329.3(RPE65):c.1459del (p.Val486_Leu487insTer)
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.147_148insCAAA (p.Phe50fs) rs1645945978
NM_000329.3(RPE65):c.1491A>G (p.Gln497=) rs766848627
NM_000329.3(RPE65):c.1496C>T (p.Pro499Leu) rs1557595139
NM_000329.3(RPE65):c.1501_1505del (p.Tyr501fs) rs2100805193
NM_000329.3(RPE65):c.1503T>A (p.Tyr501Ter)
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.1524G>C (p.Lys508Asn)
NM_000329.3(RPE65):c.1525G>A (p.Asp509Asn)
NM_000329.3(RPE65):c.1528T>C (p.Leu510=)
NM_000329.3(RPE65):c.1532G>A (p.Ser511Asn) rs1645807408
NM_000329.3(RPE65):c.1534G>A (p.Glu512Lys)
NM_000329.3(RPE65):c.1545G>A (p.Arg515=) rs2100805075
NM_000329.3(RPE65):c.1554G>A (p.Val518=)
NM_000329.3(RPE65):c.1555G>A (p.Glu519Lys) rs373274945
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.1580A>G (p.His527Arg) rs1194458561
NM_000329.3(RPE65):c.1582G>A (p.Gly528Arg) rs150832066
NM_000329.3(RPE65):c.1583G>T (p.Gly528Val) rs1193631220
NM_000329.3(RPE65):c.1584A>G (p.Gly528=) rs2100804966
NM_000329.3(RPE65):c.1587G>C (p.Leu529=)
NM_000329.3(RPE65):c.158G>A (p.Gly53Glu)
NM_000329.3(RPE65):c.158G>T (p.Gly53Val) rs763536294
NM_000329.3(RPE65):c.1590C>A (p.Phe530Leu) rs2100804954
NM_000329.3(RPE65):c.1590del (p.Phe530fs) rs281865292
NM_000329.3(RPE65):c.1596A>G (p.Lys532=)
NM_000329.3(RPE65):c.1596dup (p.Ser533fs) rs1645806893
NM_000329.3(RPE65):c.162T>C (p.Ser54=) rs2100831350
NM_000329.3(RPE65):c.166C>T (p.Pro56Ser)
NM_000329.3(RPE65):c.171T>G (p.Phe57Leu) rs2100831318
NM_000329.3(RPE65):c.174C>T (p.Tyr58=)
NM_000329.3(RPE65):c.180G>C (p.Leu60=) rs2100831297
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.198C>T (p.Leu66=)
NM_000329.3(RPE65):c.199C>T (p.Leu67=) rs1219400458
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.20A>G (p.His7Arg)
NM_000329.3(RPE65):c.213C>T (p.Asp71=) rs1297442944
NM_000329.3(RPE65):c.215T>C (p.Phe72Ser) rs1553153597
NM_000329.3(RPE65):c.219A>G (p.Lys73=)
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.225A>G (p.Gly75=)
NM_000329.3(RPE65):c.225A>T (p.Gly75=)
NM_000329.3(RPE65):c.227A>G (p.His76Arg) rs1571172233
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.246-11A>G rs905365719
NM_000329.3(RPE65):c.246-12A>G
NM_000329.3(RPE65):c.246-24_246-20del rs752554231
NM_000329.3(RPE65):c.247T>C (p.Phe83Leu) rs2100828545
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.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.270A>G (p.Val90=)
NM_000329.3(RPE65):c.272G>C (p.Arg91Pro) rs61752873
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.291G>A (p.Arg97=) rs754533608
NM_000329.3(RPE65):c.293T>C (p.Ile98Thr) rs1645930635
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.308T>C (p.Phe103Ser) rs1645930469
NM_000329.3(RPE65):c.310G>A (p.Gly104Ser)
NM_000329.3(RPE65):c.311G>A (p.Gly104Asp)
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.317G>A (p.Cys106Tyr)
NM_000329.3(RPE65):c.318T>C (p.Cys106=)
NM_000329.3(RPE65):c.325C>T (p.Pro109Ser)
NM_000329.3(RPE65):c.332C>A (p.Pro111His) rs2100828238
NM_000329.3(RPE65):c.336C>A (p.Cys112Ter)
NM_000329.3(RPE65):c.34dup (p.Tyr12fs)
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+1G>A
NM_000329.3(RPE65):c.353+20A>T
NM_000329.3(RPE65):c.353+4A>T rs1299116346
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.354-1G>A rs2100827985
NM_000329.3(RPE65):c.354-1G>T rs2100827985
NM_000329.3(RPE65):c.354-2A>G
NM_000329.3(RPE65):c.354-2del rs2100827990
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>A (p.Tyr122Ter)
NM_000329.3(RPE65):c.366C>T (p.Tyr122=) rs1479443954
NM_000329.3(RPE65):c.36C>G (p.Tyr12Ter)
NM_000329.3(RPE65):c.371G>A (p.Arg124Gln)
NM_000329.3(RPE65):c.372A>C (p.Arg124=) rs2100827903
NM_000329.3(RPE65):c.37A>C (p.Lys13Gln)
NM_000329.3(RPE65):c.37A>G (p.Lys13Glu)
NM_000329.3(RPE65):c.382G>A (p.Val128Ile)
NM_000329.3(RPE65):c.386C>T (p.Thr129Ile) rs768336015
NM_000329.3(RPE65):c.390C>T (p.Asp130=) rs2100827854
NM_000329.3(RPE65):c.395C>T (p.Ala132Val) rs1276965909
NM_000329.3(RPE65):c.3G>A (p.Met1Ile) rs1357241537
NM_000329.3(RPE65):c.400G>A (p.Val134Ile)
NM_000329.3(RPE65):c.400_402del (p.Val134del) rs1170746947
NM_000329.3(RPE65):c.405T>A (p.Asn135Lys) rs1645928294
NM_000329.3(RPE65):c.406G>C (p.Val136Leu)
NM_000329.3(RPE65):c.407T>G (p.Val136Gly) rs1645928251
NM_000329.3(RPE65):c.411C>A (p.Tyr137Ter)
NM_000329.3(RPE65):c.411C>G (p.Tyr137Ter)
NM_000329.3(RPE65):c.414A>C (p.Pro138=) rs777483146
NM_000329.3(RPE65):c.415G>A (p.Val139Met)
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.421G>T (p.Glu141Ter) rs1469460289
NM_000329.3(RPE65):c.425A>T (p.Asp142Val)
NM_000329.3(RPE65):c.430T>G (p.Tyr144Asp) rs61752880
NM_000329.3(RPE65):c.432C>G (p.Tyr144Ter) rs56021047
NM_000329.3(RPE65):c.432C>T (p.Tyr144=) rs56021047
NM_000329.3(RPE65):c.434C>T (p.Ala145Val)
NM_000329.3(RPE65):c.435T>C (p.Ala145=) rs2100827657
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.447C>A (p.Thr149=)
NM_000329.3(RPE65):c.447C>T (p.Thr149=) rs750892483
NM_000329.3(RPE65):c.455T>C (p.Ile152Thr)
NM_000329.3(RPE65):c.456T>C (p.Ile152=)
NM_000329.3(RPE65):c.459A>C (p.Thr153=)
NM_000329.3(RPE65):c.462G>C (p.Lys154Asn) rs2100827532
NM_000329.3(RPE65):c.46_49del (p.Phe16fs) rs866809120
NM_000329.3(RPE65):c.471A>T (p.Pro157=)
NM_000329.3(RPE65):c.485C>T (p.Thr162Ile) rs1360779220
NM_000329.3(RPE65):c.495+12T>C
NM_000329.3(RPE65):c.495+13G>A
NM_000329.3(RPE65):c.495+1dup rs281865288
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.496-1G>A rs2100821984
NM_000329.3(RPE65):c.497T>C (p.Val166Ala) rs2100821973
NM_000329.3(RPE65):c.498T>C (p.Val166=)
NM_000329.3(RPE65):c.501T>C (p.Asp167=) rs2100821961
NM_000329.3(RPE65):c.504_580del (p.Cys169fs) rs2100821707
NM_000329.3(RPE65):c.507C>A (p.Cys169Ter) rs1645898563
NM_000329.3(RPE65):c.513T>A (p.Tyr171Ter)
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.528_529del (p.Ala177fs) rs2100821898
NM_000329.3(RPE65):c.535G>A (p.Ala179Thr) rs1645898290
NM_000329.3(RPE65):c.536C>T (p.Ala179Val) rs1645898265
NM_000329.3(RPE65):c.53C>G (p.Thr18Ser) rs1645959906
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.545A>G (p.His182Arg) rs1459110114
NM_000329.3(RPE65):c.548T>C (p.Ile183Thr)
NM_000329.3(RPE65):c.549del (p.Ile183fs)
NM_000329.3(RPE65):c.556G>A (p.Asp186Asn) rs1553153243
NM_000329.3(RPE65):c.557A>T (p.Asp186Val)
NM_000329.3(RPE65):c.55G>A (p.Val19Met)
NM_000329.3(RPE65):c.56T>A (p.Val19Glu) rs1645959875
NM_000329.3(RPE65):c.571A>G (p.Asn191Asp) rs1189903735
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.58G>A (p.Glu20Lys) rs755545288
NM_000329.3(RPE65):c.596del (p.Asn199fs)
NM_000329.3(RPE65):c.597T>A (p.Asn199Lys)
NM_000329.3(RPE65):c.598T>G (p.Phe200Val) rs1406145019
NM_000329.3(RPE65):c.601del (p.Ser201fs)
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.615_616del (p.Ile206fs) rs61752888
NM_000329.3(RPE65):c.616A>G (p.Ile206Val)
NM_000329.3(RPE65):c.61G>T (p.Glu21Ter)
NM_000329.3(RPE65):c.61del (p.Glu21fs) rs758550330
NM_000329.3(RPE65):c.624G>T (p.Lys208Asn) rs1170839612
NM_000329.3(RPE65):c.625A>T (p.Ile209Phe)
NM_000329.3(RPE65):c.627C>A (p.Ile209=) rs1408756289
NM_000329.3(RPE65):c.629C>G (p.Pro210Arg) rs757538512
NM_000329.3(RPE65):c.633A>G (p.Pro211=)
NM_000329.3(RPE65):c.636G>A (p.Leu212=)
NM_000329.3(RPE65):c.637C>T (p.Gln213Ter) rs777966849
NM_000329.3(RPE65):c.638A>C (p.Gln213Pro) rs1224080719
NM_000329.3(RPE65):c.641C>T (p.Ala214Val)
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+2T>A rs1645896934
NM_000329.3(RPE65):c.643+3G>A rs1277690393
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.644-1G>A
NM_000329.3(RPE65):c.644-2A>G
NM_000329.3(RPE65):c.644-2A>T rs61752891
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.646A>T (p.Lys216Ter)
NM_000329.3(RPE65):c.648G>A (p.Lys216=)
NM_000329.3(RPE65):c.64C>T (p.Leu22=) rs754228407
NM_000329.3(RPE65):c.650A>T (p.Glu217Val) rs777646597
NM_000329.3(RPE65):c.652G>T (p.Asp218Tyr)
NM_000329.3(RPE65):c.658A>G (p.Ile220Val)
NM_000329.3(RPE65):c.672_673del (p.Glu224fs)
NM_000329.3(RPE65):c.675C>T (p.Ile225=) rs114379164
NM_000329.3(RPE65):c.676G>T (p.Val226Phe)
NM_000329.3(RPE65):c.678T>C (p.Val226=)
NM_000329.3(RPE65):c.683A>C (p.Gln228Pro) rs886046510
NM_000329.3(RPE65):c.690C>T (p.Pro230=)
NM_000329.3(RPE65):c.693C>A (p.Cys231Ter) rs2100819756
NM_000329.3(RPE65):c.69C>T (p.Ser23=) rs1645959675
NM_000329.3(RPE65):c.706A>T (p.Lys236Ter) rs1645885900
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.716dup (p.Tyr239Ter)
NM_000329.3(RPE65):c.717C>G (p.Tyr239Ter)
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.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+1G>A rs1260969698
NM_000329.3(RPE65):c.725+1G>T
NM_000329.3(RPE65):c.725+20T>C
NM_000329.3(RPE65):c.725+2T>C rs1355979496
NM_000329.3(RPE65):c.725+5C>T rs923933222
NM_000329.3(RPE65):c.725+6T>C rs2100819643
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.726-1G>A
NM_000329.3(RPE65):c.726-20C>T
NM_000329.3(RPE65):c.726-2A>C rs878853372
NM_000329.3(RPE65):c.726-2A>T rs878853372
NM_000329.3(RPE65):c.726-3C>A
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.72_73insAGGAACTGT (p.Ser24_Pro25insArgAsnCys) rs2100834242
NM_000329.3(RPE65):c.731G>A (p.Gly244Asp) rs2100819283
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.746A>G (p.Tyr249Cys) rs373652862
NM_000329.3(RPE65):c.750del (p.Ile250fs)
NM_000329.3(RPE65):c.751G>A (p.Val251Ile) rs1325815513
NM_000329.3(RPE65):c.755T>C (p.Phe252Ser) rs1553153135
NM_000329.3(RPE65):c.768A>C (p.Pro256=)
NM_000329.3(RPE65):c.770T>G (p.Val257Gly) rs1645883131
NM_000329.3(RPE65):c.775dup (p.Ile259fs) rs2100819197
NM_000329.3(RPE65):c.777dup (p.Asn260Ter) rs2100819190
NM_000329.3(RPE65):c.782T>C (p.Leu261Pro)
NM_000329.3(RPE65):c.785_787del (p.Phe262_Lys263delinsTer) rs2100819151
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.802T>A (p.Trp268Arg)
NM_000329.3(RPE65):c.803G>A (p.Trp268Ter)
NM_000329.3(RPE65):c.818C>A (p.Ala273Asp)
NM_000329.3(RPE65):c.819C>T (p.Ala273=) rs2100819102
NM_000329.3(RPE65):c.825C>G (p.Tyr275Ter) rs988133284
NM_000329.3(RPE65):c.826A>G (p.Met276Val)
NM_000329.3(RPE65):c.829_833del (p.Asp277fs) rs1645882447
NM_000329.3(RPE65):c.82G>T (p.Ala28Ser)
NM_000329.3(RPE65):c.83C>A (p.Ala28Asp)
NM_000329.3(RPE65):c.840G>C (p.Glu280Asp)
NM_000329.3(RPE65):c.842_843del (p.Glu280_Ser281insTer)
NM_000329.3(RPE65):c.843_858+7del rs1645882103
NM_000329.3(RPE65):c.84T>C (p.Ala28=)
NM_000329.3(RPE65):c.851C>T (p.Thr284Ile)
NM_000329.3(RPE65):c.852C>T (p.Thr284=)
NM_000329.3(RPE65):c.853A>T (p.Met285Leu)
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.858+1G>A rs61752899
NM_000329.3(RPE65):c.858+1G>C
NM_000329.3(RPE65):c.858+1G>T rs61752899
NM_000329.3(RPE65):c.858+1dup
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.859-1G>A
NM_000329.3(RPE65):c.859-2A>C
NM_000329.3(RPE65):c.859-4C>G rs1571165470
NM_000329.3(RPE65):c.859-5dup
NM_000329.3(RPE65):c.859G>T (p.Val287Phe) rs281865289
NM_000329.3(RPE65):c.859del rs2100818777
NM_000329.3(RPE65):c.86A>G (p.His29Arg)
NM_000329.3(RPE65):c.871A>G (p.Ile291Val)
NM_000329.3(RPE65):c.872T>C (p.Ile291Thr)
NM_000329.3(RPE65):c.879C>T (p.Asp293=)
NM_000329.3(RPE65):c.87T>C (p.His29=)
NM_000329.3(RPE65):c.880A>G (p.Lys294Glu)
NM_000329.3(RPE65):c.882A>G (p.Lys294=) rs1381189679
NM_000329.3(RPE65):c.885A>G (p.Lys295=)
NM_000329.3(RPE65):c.886del (p.Arg296fs) rs746127684
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.902A>C (p.Asn301Thr)
NM_000329.3(RPE65):c.906_907del (p.Asn302fs)
NM_000329.3(RPE65):c.90A>G (p.Val30=) rs2100834158
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.922C>T (p.Pro308Ser)
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.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.943_950del (p.Ile315fs) rs2100818444
NM_000329.3(RPE65):c.945C>T (p.Ile315=)
NM_000329.3(RPE65):c.946A>G (p.Asn316Asp) rs2100818454
NM_000329.3(RPE65):c.948C>T (p.Asn316=) rs2100818448
NM_000329.3(RPE65):c.94G>T (p.Gly32Cys) rs768448761
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.95-1G>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.962dup (p.Asn321fs) rs61752906
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.982C>T (p.Leu328Phe) rs1169420841
NM_000329.3(RPE65):c.985del (p.Cys329fs)
NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr) rs61752908
NM_000329.3(RPE65):c.991_993dup (p.Trp331dup) rs1571165140
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+1G>A rs1645879495
NM_000329.3(RPE65):c.998+20A>G
NM_000329.3(RPE65):c.998G>A (p.Gly333Glu) rs1173207597
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.999-1G>T
NM_000329.3(RPE65):c.999-2A>G
NM_000329.3(RPE65):c.999-3C>G rs2100817189
NM_000329.3(RPE65):c.999-7T>C
NM_000329.3(RPE65):c.99G>A (p.Arg33=)
NM_000329.3(RPE65):c.[1206G>A;1207_1210dup]

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