NM_001008212.2(OPTN):c.553-5C>T
|
rs2244380
|
0.80823
|
NM_001008212.2(OPTN):c.369+39T>G
|
rs79529484
|
0.22121
|
NM_001008212.2(OPTN):c.166+66A>G
|
rs10906303
|
0.20691
|
NM_001008212.2(OPTN):c.102G>A (p.Thr34=)
|
rs2234968
|
0.19474
|
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys)
|
rs11258194
|
0.05969
|
NM_001008212.2(OPTN):c.626+24G>A
|
rs11258211
|
0.03152
|
NM_001008212.2(OPTN):c.627-10T>C
|
rs80327830
|
0.00853
|
NM_001008212.2(OPTN):c.123G>A (p.Leu41=)
|
rs11591687
|
0.00729
|
NM_001008212.2(OPTN):c.964G>A (p.Glu322Lys)
|
rs523747
|
0.00719
|
NM_001008212.2(OPTN):c.553-10G>A
|
rs11258210
|
0.00492
|
NM_001008212.2(OPTN):c.876G>A (p.Pro292=)
|
rs151065414
|
0.00118
|
NM_001008212.2(OPTN):c.489A>G (p.Glu163=)
|
rs113811959
|
0.00108
|
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln)
|
rs75654767
|
0.00101
|
NM_001008212.2(OPTN):c.779+20G>A
|
rs79733653
|
0.00095
|
NM_001008212.2(OPTN):c.1148+13A>G
|
rs368654623
|
0.00061
|
NM_001008212.2(OPTN):c.1612+10G>A
|
rs191671333
|
0.00053
|
NM_001008212.2(OPTN):c.147C>T (p.Thr49=)
|
rs187734249
|
0.00045
|
NM_001008212.2(OPTN):c.606G>A (p.Thr202=)
|
rs143437860
|
0.00038
|
NM_001008212.2(OPTN):c.777A>T (p.Glu259Asp)
|
rs532842754
|
0.00035
|
NM_001008212.2(OPTN):c.1396G>T (p.Ala466Ser)
|
rs144466778
|
0.00034
|
NM_001008212.2(OPTN):c.1559G>A (p.Arg520His)
|
rs200088838
|
0.00033
|
NM_001008212.2(OPTN):c.909C>A (p.Asn303Lys)
|
rs200114679
|
0.00015
|
NM_001008212.2(OPTN):c.403G>A (p.Glu135Lys)
|
rs140599944
|
0.00014
|
NM_001008212.2(OPTN):c.779+10A>G
|
rs200899194
|
0.00011
|
NM_001008212.2(OPTN):c.1401+4A>G
|
rs371470839
|
0.00009
|
NM_001008212.2(OPTN):c.883-17G>T
|
rs561692004
|
0.00009
|
NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu)
|
rs142812715
|
0.00007
|
NM_001008212.2(OPTN):c.127C>T (p.Gln43Ter)
|
rs934287314
|
0.00006
|
NM_001008212.2(OPTN):c.1401+21C>G
|
rs553828705
|
0.00006
|
NM_001008212.2(OPTN):c.263T>C (p.Ile88Thr)
|
rs760492259
|
0.00006
|
NM_001008212.2(OPTN):c.619A>G (p.Thr207Ala)
|
rs750995656
|
0.00006
|
NM_001008212.2(OPTN):c.1442C>T (p.Ala481Val)
|
rs377219791
|
0.00004
|
NM_001008212.2(OPTN):c.1588C>A (p.Gln530Lys)
|
rs759605171
|
0.00004
|
NM_001008212.2(OPTN):c.1618G>C (p.Glu540Gln)
|
rs577097767
|
0.00004
|
NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs)
|
rs774258585
|
0.00004
|
NM_001008212.2(OPTN):c.425A>C (p.Gln142Pro)
|
rs757411888
|
0.00004
|
NM_001008212.2(OPTN):c.597T>C (p.Pro199=)
|
rs373699827
|
0.00004
|
NM_001008212.2(OPTN):c.883-9G>A
|
rs372118360
|
0.00004
|
NM_001008212.2(OPTN):c.1533-10G>A
|
rs202006990
|
0.00003
|
NM_001008212.2(OPTN):c.1533-3C>T
|
rs373981784
|
0.00003
|
NM_001008212.2(OPTN):c.1569G>A (p.Ala523=)
|
rs771316696
|
0.00003
|
NM_001008212.2(OPTN):c.1643G>A (p.Arg548Gln)
|
rs550042475
|
0.00003
|
NM_001008212.2(OPTN):c.1713C>T (p.His571=)
|
rs187326591
|
0.00003
|
NM_001008212.2(OPTN):c.219G>A (p.Ser73=)
|
rs1430621754
|
0.00003
|
NM_001008212.2(OPTN):c.275A>T (p.Glu92Val)
|
rs202044898
|
0.00003
|
NM_001008212.2(OPTN):c.448C>T (p.Leu150=)
|
rs768270236
|
0.00003
|
NM_001008212.2(OPTN):c.799A>G (p.Lys267Glu)
|
rs780122817
|
0.00003
|
NM_001008212.2(OPTN):c.811C>T (p.Arg271Cys)
|
rs540943401
|
0.00003
|
NM_001008212.2(OPTN):c.1312G>A (p.Ala438Thr)
|
rs768591421
|
0.00002
|
NM_001008212.2(OPTN):c.1324C>T (p.Leu442=)
|
rs367641761
|
0.00002
|
NM_001008212.2(OPTN):c.1330A>G (p.Met444Val)
|
rs900961302
|
0.00002
|
NM_001008212.2(OPTN):c.1428T>C (p.His476=)
|
rs767738080
|
0.00002
|
NM_001008212.2(OPTN):c.1546G>C (p.Glu516Gln)
|
rs757107215
|
0.00002
|
NM_001008212.2(OPTN):c.287G>A (p.Arg96His)
|
rs184561087
|
0.00002
|
NM_001008212.2(OPTN):c.407C>T (p.Ala136Val)
|
rs764364218
|
0.00002
|
NM_001008212.2(OPTN):c.480C>T (p.Ile160=)
|
rs146593599
|
0.00002
|
NM_001008212.2(OPTN):c.513C>T (p.Ser171=)
|
rs369760173
|
0.00002
|
NM_001008212.2(OPTN):c.626+5del
|
rs776938424
|
0.00002
|
NM_001008212.2(OPTN):c.718C>T (p.Leu240=)
|
rs372486382
|
0.00002
|
NM_001008212.2(OPTN):c.882+3G>A
|
rs761196996
|
0.00002
|
NM_001008212.2(OPTN):c.1038A>T (p.Ser346=)
|
rs181131178
|
0.00001
|
NM_001008212.2(OPTN):c.1149-2A>G
|
rs867368757
|
0.00001
|
NM_001008212.2(OPTN):c.1174A>G (p.Thr392Ala)
|
rs751226367
|
0.00001
|
NM_001008212.2(OPTN):c.1372C>T (p.Leu458=)
|
rs760304751
|
0.00001
|
NM_001008212.2(OPTN):c.1490C>G (p.Ala497Gly)
|
rs956159636
|
0.00001
|
NM_001008212.2(OPTN):c.1612+9C>T
|
rs763985749
|
0.00001
|
NM_001008212.2(OPTN):c.1633C>T (p.Arg545Trp)
|
rs774245711
|
0.00001
|
NM_001008212.2(OPTN):c.177G>C (p.Lys59Asn)
|
rs1487584331
|
0.00001
|
NM_001008212.2(OPTN):c.247C>T (p.Arg83Cys)
|
rs756622651
|
0.00001
|
NM_001008212.2(OPTN):c.444G>A (p.Val148=)
|
rs780011442
|
0.00001
|
NM_001008212.2(OPTN):c.447G>A (p.Arg149=)
|
rs555741399
|
0.00001
|
NM_001008212.2(OPTN):c.46C>G (p.Pro16Ala)
|
rs758942502
|
0.00001
|
NM_001008212.2(OPTN):c.481G>A (p.Val161Met)
|
rs776058639
|
0.00001
|
NM_001008212.2(OPTN):c.528T>C (p.Asp176=)
|
rs754892837
|
0.00001
|
NM_001008212.2(OPTN):c.605C>T (p.Thr202Met)
|
rs199700857
|
0.00001
|
NM_001008212.2(OPTN):c.626+1G>A
|
rs756957223
|
0.00001
|
NM_001008212.2(OPTN):c.626+4T>C
|
rs1564360523
|
0.00001
|
NM_001008212.2(OPTN):c.676T>C (p.Phe226Leu)
|
rs1189662370
|
0.00001
|
NM_001008212.2(OPTN):c.682C>T (p.His228Tyr)
|
rs775448931
|
0.00001
|
NM_001008212.2(OPTN):c.780-2A>C
|
rs768117011
|
0.00001
|
NM_001008212.2(OPTN):c.785C>A (p.Ser262Ter)
|
rs750571210
|
0.00001
|
NM_001008212.2(OPTN):c.867G>C (p.Glu289Asp)
|
rs143727251
|
0.00001
|
NM_001008212.2(OPTN):c.882+5G>C
|
rs766398912
|
0.00001
|
NM_001008212.2(OPTN):c.891C>T (p.Ser297=)
|
rs200169099
|
0.00001
|
NM_001008212.2(OPTN):c.910C>T (p.Leu304Phe)
|
rs1833407652
|
0.00001
|
NM_001008212.2(OPTN):c.950A>G (p.His317Arg)
|
rs747365111
|
0.00001
|
NC_000010.10:g.(?_12833157)_(13178866_?)del
|
|
|
NC_000010.10:g.(?_13151123)_(13154655_?)dup
|
|
|
NC_000010.10:g.(?_13151123)_(13158360_?)del
|
|
|
NC_000010.10:g.(?_13151123)_(13178866_?)del
|
|
|
NC_000010.10:g.(?_13152254)_(13161060_?)del
|
|
|
NC_000010.10:g.(?_13152353)_(13162081_?)del
|
|
|
NC_000010.10:g.(?_13154433)_(13161060_?)del
|
|
|
NC_000010.10:g.(?_13158247)_(13158360_?)del
|
|
|
NC_000010.10:g.(?_13158247)_(13169923_?)dup
|
|
|
NC_000010.10:g.(?_13160868)_(13161060_?)del
|
|
|
NC_000010.10:g.(?_13160868)_(13161060_?)dup
|
|
|
NC_000010.10:g.(?_13164365)_(13168059_?)del
|
|
|
NC_000010.11:g.(?_13109103)_(13136886_?)del
|
|
|
NC_000010.11:g.(?_13109113)_(13112645_?)del
|
|
|
NC_000010.11:g.(?_13109123)_(13183100_?)del
|
|
|
NC_000010.11:g.(?_13116257)_(13116350_?)del
|
|
|
NC_000010.11:g.(?_13118878)_(13119050_?)del
|
|
|
NC_000010.11:g.13122383AG[1]
|
rs757559365
|
|
NM_001008212.2(OPTN):c.1006G>T (p.Ala336Ser)
|
rs1248850820
|
|
NM_001008212.2(OPTN):c.101C>T (p.Thr34Met)
|
|
|
NM_001008212.2(OPTN):c.1022A>T (p.Asn341Ile)
|
|
|
NM_001008212.2(OPTN):c.1071T>C (p.Thr357=)
|
|
|
NM_001008212.2(OPTN):c.1078_1079del (p.Lys360fs)
|
rs1833438306
|
|
NM_001008212.2(OPTN):c.1088T>C (p.Leu363Pro)
|
|
|
NM_001008212.2(OPTN):c.1103del (p.Met368fs)
|
|
|
NM_001008212.2(OPTN):c.1107A>G (p.Leu369=)
|
rs149806984
|
|
NM_001008212.2(OPTN):c.110C>T (p.Pro37Leu)
|
|
|
NM_001008212.2(OPTN):c.1128G>A (p.Gln376=)
|
|
|
NM_001008212.2(OPTN):c.1132A>G (p.Lys378Glu)
|
|
|
NM_001008212.2(OPTN):c.1149-13T>A
|
|
|
NM_001008212.2(OPTN):c.1195G>T (p.Glu399Ter)
|
|
|
NM_001008212.2(OPTN):c.1197_1198inv (p.His400Tyr)
|
|
|
NM_001008212.2(OPTN):c.1220T>C (p.Ile407Thr)
|
|
|
NM_001008212.2(OPTN):c.1229T>C (p.Leu410Pro)
|
|
|
NM_001008212.2(OPTN):c.1241_1242del (p.Glu414fs)
|
rs774772178
|
|
NM_001008212.2(OPTN):c.1242+6C>T
|
rs906152658
|
|
NM_001008212.2(OPTN):c.1243-11T>G
|
|
|
NM_001008212.2(OPTN):c.1243-4T>G
|
|
|
NM_001008212.2(OPTN):c.1250A>C (p.Lys417Thr)
|
|
|
NM_001008212.2(OPTN):c.1269G>A (p.Leu423=)
|
|
|
NM_001008212.2(OPTN):c.1289_1290del (p.Leu430fs)
|
|
|
NM_001008212.2(OPTN):c.1298C>T (p.Ala433Val)
|
|
|
NM_001008212.2(OPTN):c.1304dup (p.Ala436fs)
|
rs1588449569
|
|
NM_001008212.2(OPTN):c.1318_1334dup (p.Asp445fs)
|
|
|
NM_001008212.2(OPTN):c.1319A>G (p.Lys440Arg)
|
|
|
NM_001008212.2(OPTN):c.1320A>G (p.Lys440=)
|
|
|
NM_001008212.2(OPTN):c.1333G>C (p.Asp445His)
|
|
|
NM_001008212.2(OPTN):c.1340T>G (p.Met447Arg)
|
rs1045159479
|
|
NM_001008212.2(OPTN):c.1352T>C (p.Ile451Thr)
|
|
|
NM_001008212.2(OPTN):c.1386C>T (p.Thr462=)
|
|
|
NM_001008212.2(OPTN):c.1401+1G>A
|
rs1370982012
|
|
NM_001008212.2(OPTN):c.1401+9C>T
|
|
|
NM_001008212.2(OPTN):c.1402-11del
|
|
|
NM_001008212.2(OPTN):c.1402-3C>G
|
rs1588452749
|
|
NM_001008212.2(OPTN):c.1402-7C>T
|
|
|
NM_001008212.2(OPTN):c.1443G>A (p.Ala481=)
|
|
|
NM_001008212.2(OPTN):c.1447G>C (p.Glu483Gln)
|
rs2131528196
|
|
NM_001008212.2(OPTN):c.1456C>T (p.His486Tyr)
|
|
|
NM_001008212.2(OPTN):c.1457A>G (p.His486Arg)
|
|
|
NM_001008212.2(OPTN):c.1465A>G (p.Lys489Glu)
|
rs1363384405
|
|
NM_001008212.2(OPTN):c.1468G>A (p.Glu490Lys)
|
|
|
NM_001008212.2(OPTN):c.14C>G (p.Pro5Arg)
|
rs1564354765
|
|
NM_001008212.2(OPTN):c.1509T>G (p.Asn503Lys)
|
|
|
NM_001008212.2(OPTN):c.1510G>T (p.Asp504Tyr)
|
|
|
NM_001008212.2(OPTN):c.1532+14A>G
|
|
|
NM_001008212.2(OPTN):c.1552C>T (p.Gln518Ter)
|
|
|
NM_001008212.2(OPTN):c.1556G>A (p.Ser519Asn)
|
|
|
NM_001008212.2(OPTN):c.1558C>T (p.Arg520Cys)
|
|
|
NM_001008212.2(OPTN):c.1558dup (p.Arg520fs)
|
|
|
NM_001008212.2(OPTN):c.156C>T (p.His52=)
|
|
|
NM_001008212.2(OPTN):c.1583_1584del (p.Asp527_Ser528insTer)
|
rs1446908199
|
|
NM_001008212.2(OPTN):c.158_161dup (p.Lys55fs)
|
rs1564354968
|
|
NM_001008212.2(OPTN):c.1612+17C>A
|
|
|
NM_001008212.2(OPTN):c.1612+17C>T
|
|
|
NM_001008212.2(OPTN):c.1613-13T>C
|
|
|
NM_001008212.2(OPTN):c.1613-1G>A
|
|
|
NM_001008212.2(OPTN):c.1613-3C>T
|
rs2131534998
|
|
NM_001008212.2(OPTN):c.1613G>A (p.Gly538Glu)
|
rs967459877
|
|
NM_001008212.2(OPTN):c.161T>A (p.Leu54Gln)
|
|
|
NM_001008212.2(OPTN):c.1627_1628delinsCT (p.Asp543Leu)
|
rs2131535039
|
|
NM_001008212.2(OPTN):c.1636C>T (p.Gln546Ter)
|
|
|
NM_001008212.2(OPTN):c.1642C>A (p.Arg548=)
|
rs767360238
|
|
NM_001008212.2(OPTN):c.1642C>T (p.Arg548Trp)
|
rs767360238
|
|
NM_001008212.2(OPTN):c.1653G>T (p.Pro551=)
|
|
|
NM_001008212.2(OPTN):c.1666C>T (p.Pro556Ser)
|
|
|
NM_001008212.2(OPTN):c.1670A>C (p.Lys557Thr)
|
|
|
NM_001008212.2(OPTN):c.1670A>G (p.Lys557Arg)
|
|
|
NM_001008212.2(OPTN):c.1674T>C (p.Cys558=)
|
rs1833710699
|
|
NM_001008212.2(OPTN):c.1688C>T (p.Pro563Leu)
|
|
|
NM_001008212.2(OPTN):c.1691A>G (p.Asp564Gly)
|
|
|
NM_001008212.2(OPTN):c.16C>T (p.Leu6Phe)
|
|
|
NM_001008212.2(OPTN):c.1704A>C (p.Leu568Phe)
|
|
|
NM_001008212.2(OPTN):c.1705C>T (p.Gln569Ter)
|
rs1275810602
|
|
NM_001008212.2(OPTN):c.1714G>A (p.Val572Met)
|
|
|
NM_001008212.2(OPTN):c.1718T>C (p.Met573Thr)
|
rs1564370960
|
|
NM_001008212.2(OPTN):c.1722T>C (p.Asp574=)
|
|
|
NM_001008212.2(OPTN):c.1724G>A (p.Cys575Tyr)
|
|
|
NM_001008212.2(OPTN):c.194T>C (p.Met65Thr)
|
|
|
NM_001008212.2(OPTN):c.200G>A (p.Gly67Glu)
|
|
|
NM_001008212.2(OPTN):c.213G>A (p.Glu71=)
|
|
|
NM_001008212.2(OPTN):c.226A>G (p.Thr76Ala)
|
|
|
NM_001008212.2(OPTN):c.235C>T (p.Gln79Ter)
|
|
|
NM_001008212.2(OPTN):c.241G>T (p.Glu81Ter)
|
|
|
NM_001008212.2(OPTN):c.254T>G (p.Phe85Cys)
|
|
|
NM_001008212.2(OPTN):c.261G>A (p.Glu87=)
|
rs749333165
|
|
NM_001008212.2(OPTN):c.295G>T (p.Ala99Ser)
|
|
|
NM_001008212.2(OPTN):c.2T>A (p.Met1Lys)
|
|
|
NM_001008212.2(OPTN):c.309G>C (p.Glu103Asp)
|
|
|
NM_001008212.2(OPTN):c.352T>C (p.Ser118Pro)
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NM_001008212.2(OPTN):c.358A>G (p.Arg120Gly)
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NM_001008212.2(OPTN):c.368A>C (p.Glu123Ala)
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NM_001008212.2(OPTN):c.369+11C>G
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NM_001008212.2(OPTN):c.369+11C>T
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NM_001008212.2(OPTN):c.369+12G>A
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NM_001008212.2(OPTN):c.369+2T>C
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NM_001008212.2(OPTN):c.370-13T>C
|
rs1410187067
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NM_001008212.2(OPTN):c.370-1G>A
|
rs2131488754
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NM_001008212.2(OPTN):c.377C>A (p.Thr126Asn)
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NM_001008212.2(OPTN):c.385T>C (p.Ser129Pro)
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rs369071606
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NM_001008212.2(OPTN):c.38A>T (p.Glu13Val)
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NM_001008212.2(OPTN):c.398G>C (p.Arg133Thr)
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rs1269604352
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NM_001008212.2(OPTN):c.402C>A (p.Ala134=)
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rs113955718
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NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter)
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rs140599944
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NM_001008212.2(OPTN):c.404A>C (p.Glu135Ala)
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rs372714385
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NM_001008212.2(OPTN):c.408G>A (p.Ala136=)
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NM_001008212.2(OPTN):c.412C>A (p.Gln138Lys)
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NM_001008212.2(OPTN):c.419_420insTC (p.Lys140fs)
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NM_001008212.2(OPTN):c.433A>G (p.Thr145Ala)
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NM_001008212.2(OPTN):c.435C>T (p.Thr145=)
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rs1042488570
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NM_001008212.2(OPTN):c.440T>A (p.Val147Glu)
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NM_001008212.2(OPTN):c.450dup (p.Gln151fs)
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NM_001008212.2(OPTN):c.463G>T (p.Ala155Ser)
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NM_001008212.2(OPTN):c.489A>T (p.Glu163Asp)
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rs113811959
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NM_001008212.2(OPTN):c.490C>T (p.Leu164=)
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NM_001008212.2(OPTN):c.493C>T (p.Gln165Ter)
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NM_001008212.2(OPTN):c.50G>A (p.Ser17Asn)
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NM_001008212.2(OPTN):c.523del (p.Glu175fs)
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NM_001008212.2(OPTN):c.536T>A (p.Val179Asp)
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NM_001008212.2(OPTN):c.552+11G>C
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rs1015367767
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NM_001008212.2(OPTN):c.553-12C>T
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NM_001008212.2(OPTN):c.553-17C>T
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NM_001008212.2(OPTN):c.553-6_553-5delinsGT
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NM_001008212.2(OPTN):c.582A>G (p.Glu194=)
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NM_001008212.2(OPTN):c.589C>A (p.His197Asn)
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NM_001008212.2(OPTN):c.591T>G (p.His197Gln)
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NM_001008212.2(OPTN):c.598G>A (p.Gly200Arg)
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NM_001008212.2(OPTN):c.609A>T (p.Arg203Ser)
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rs1833208430
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NM_001008212.2(OPTN):c.612A>G (p.Thr204=)
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rs1588441388
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NM_001008212.2(OPTN):c.616T>G (p.Ser206Ala)
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NM_001008212.2(OPTN):c.626+17T>A
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NM_001008212.2(OPTN):c.626+18C>T
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NM_001008212.2(OPTN):c.626C>T (p.Thr209Met)
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NM_001008212.2(OPTN):c.627-16C>T
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NM_001008212.2(OPTN):c.633G>A (p.Leu211=)
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NM_001008212.2(OPTN):c.635C>A (p.Ser212Tyr)
|
rs1450047435
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NM_001008212.2(OPTN):c.644G>A (p.Arg215Lys)
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NM_001008212.2(OPTN):c.649A>T (p.Arg217Ter)
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NM_001008212.2(OPTN):c.666del (p.Lys223fs)
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NM_001008212.2(OPTN):c.669G>T (p.Lys223Asn)
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NM_001008212.2(OPTN):c.675C>T (p.Tyr225=)
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NM_001008212.2(OPTN):c.678C>T (p.Phe226=)
|
rs560438634
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NM_001008212.2(OPTN):c.679G>A (p.Glu227Lys)
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NM_001008212.2(OPTN):c.701G>A (p.Ser234Asn)
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NM_001008212.2(OPTN):c.703C>T (p.Gln235Ter)
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NM_001008212.2(OPTN):c.729G>T (p.Gly243=)
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NM_001008212.2(OPTN):c.754G>C (p.Val252Leu)
|
rs760339006
|
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NM_001008212.2(OPTN):c.759A>C (p.Ala253=)
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NM_001008212.2(OPTN):c.762C>T (p.Leu254=)
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NM_001008212.2(OPTN):c.76C>A (p.His26Asn)
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NM_001008212.2(OPTN):c.76C>G (p.His26Asp)
|
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NM_001008212.2(OPTN):c.76del (p.His26fs)
|
rs753966040
|
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NM_001008212.2(OPTN):c.76dup (p.His26fs)
|
rs753966040
|
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NM_001008212.2(OPTN):c.779+8A>G
|
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|
NM_001008212.2(OPTN):c.779G>A (p.Arg260Lys)
|
|
|
NM_001008212.2(OPTN):c.780-1G>C
|
rs759311192
|
|
NM_001008212.2(OPTN):c.780-3C>T
|
|
|
NM_001008212.2(OPTN):c.78C>T (p.His26=)
|
rs1588433321
|
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NM_001008212.2(OPTN):c.7C>T (p.His3Tyr)
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NM_001008212.2(OPTN):c.804A>C (p.Thr268=)
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NM_001008212.2(OPTN):c.822T>A (p.Ile274=)
|
rs747912539
|
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NM_001008212.2(OPTN):c.843C>T (p.Ser281=)
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|
|
NM_001008212.2(OPTN):c.847G>C (p.Glu283Gln)
|
rs1833371043
|
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NM_001008212.2(OPTN):c.882+19C>T
|
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|
NM_001008212.2(OPTN):c.882+20G>A
|
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NM_001008212.2(OPTN):c.882+2_882+3del
|
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|
NM_001008212.2(OPTN):c.882+5G>A
|
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NM_001008212.2(OPTN):c.883-10C>T
|
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|
NM_001008212.2(OPTN):c.883-6T>C
|
rs1588446686
|
|
NM_001008212.2(OPTN):c.892G>A (p.Glu298Lys)
|
rs1833407271
|
|
NM_001008212.2(OPTN):c.918_922del (p.Thr307fs)
|
rs786205611
|
|
NM_001008212.2(OPTN):c.924T>G (p.Ser308=)
|
|
|
NM_001008212.2(OPTN):c.949C>G (p.His317Asp)
|
rs1387105883
|
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NM_001008212.2(OPTN):c.94C>T (p.Leu32=)
|
|
|
NM_001008212.2(OPTN):c.953C>G (p.Thr318Arg)
|
|
|
NM_001008212.2(OPTN):c.964= (p.Glu322=)
|
|
|
NM_001008212.2(OPTN):c.97G>C (p.Asp33His)
|
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|
NM_001008212.2(OPTN):c.980A>G (p.Lys327Arg)
|
|
|
NM_001008212.2(OPTN):c.985A>G (p.Arg329Gly)
|
rs1564364468
|
|
NM_001008212.2(OPTN):c.986_990del (p.Arg329fs)
|
rs778911925
|
|
NM_001008212.2(OPTN):c.998+18A>G
|
rs1833410378
|
|
NM_001008212.2(OPTN):c.998+19T>C
|
rs1833410442
|
|
NM_001008212.2(OPTN):c.999-16T>C
|
|
|
NM_001008212.2(OPTN):c.999-20G>A
|
|
|