NM_001008212.2(OPTN):c.553-5C>T
|
rs2244380
|
0.80844
|
NM_001008212.2(OPTN):c.626+24G>A
|
rs11258211
|
0.03259
|
NM_001008212.2(OPTN):c.627-10T>C
|
rs80327830
|
0.00853
|
NM_001008212.2(OPTN):c.964G>A (p.Glu322Lys)
|
rs523747
|
0.00679
|
NM_001008212.2(OPTN):c.553-10G>A
|
rs11258210
|
0.00492
|
NM_001008212.2(OPTN):c.963C>T (p.Ser321=)
|
rs150381274
|
0.00491
|
NM_001008212.2(OPTN):c.779+20G>A
|
rs79733653
|
0.00133
|
NM_001008212.2(OPTN):c.876G>A (p.Pro292=)
|
rs151065414
|
0.00109
|
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.1148+13A>G
|
rs368654623
|
0.00061
|
NM_001008212.2(OPTN):c.1612+10G>A
|
rs191671333
|
0.00053
|
NM_001008212.2(OPTN):c.606G>A (p.Thr202=)
|
rs143437860
|
0.00038
|
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.1243-11T>G
|
rs371605680
|
0.00026
|
NM_001008212.2(OPTN):c.882+19C>T
|
rs2277219
|
0.00015
|
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.780-3C>T
|
rs757862728
|
0.00013
|
NM_001008212.2(OPTN):c.779+10A>G
|
rs200899194
|
0.00011
|
NM_001008212.2(OPTN):c.1401+21C>G
|
rs553828705
|
0.00008
|
NM_001008212.2(OPTN):c.1401+4A>G
|
rs371470839
|
0.00008
|
NM_001008212.2(OPTN):c.1457A>G (p.His486Arg)
|
rs373425395
|
0.00007
|
NM_001008212.2(OPTN):c.589C>A (p.His197Asn)
|
rs759378585
|
0.00007
|
NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu)
|
rs142812715
|
0.00007
|
NM_001008212.2(OPTN):c.573A>G (p.Ser191=)
|
rs773095721
|
0.00006
|
NM_001008212.2(OPTN):c.619A>G (p.Thr207Ala)
|
rs750995656
|
0.00006
|
NM_001008212.2(OPTN):c.1220T>C (p.Ile407Thr)
|
rs557678153
|
0.00005
|
NM_001008212.2(OPTN):c.1713C>T (p.His571=)
|
rs187326591
|
0.00005
|
NM_001008212.2(OPTN):c.408G>A (p.Ala136=)
|
rs144561412
|
0.00005
|
NM_001008212.2(OPTN):c.553-17C>T
|
rs201995280
|
0.00005
|
NM_001008212.2(OPTN):c.777A>T (p.Glu259Asp)
|
rs532842754
|
0.00005
|
NM_001008212.2(OPTN):c.1442C>T (p.Ala481Val)
|
rs377219791
|
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.490C>T (p.Leu164=)
|
rs144640313
|
0.00004
|
NM_001008212.2(OPTN):c.597T>C (p.Pro199=)
|
rs373699827
|
0.00004
|
NM_001008212.2(OPTN):c.679G>A (p.Glu227Lys)
|
rs368244180
|
0.00004
|
NM_001008212.2(OPTN):c.883-9G>A
|
rs372118360
|
0.00004
|
NM_001008212.2(OPTN):c.1269G>A (p.Leu423=)
|
rs769491262
|
0.00003
|
NM_001008212.2(OPTN):c.1298C>T (p.Ala433Val)
|
rs1350829993
|
0.00003
|
NM_001008212.2(OPTN):c.1465A>G (p.Lys489Glu)
|
rs1363384405
|
0.00003
|
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.1588C>A (p.Gln530Lys)
|
rs759605171
|
0.00003
|
NM_001008212.2(OPTN):c.1618G>C (p.Glu540Gln)
|
rs577097767
|
0.00003
|
NM_001008212.2(OPTN):c.1643G>A (p.Arg548Gln)
|
rs550042475
|
0.00003
|
NM_001008212.2(OPTN):c.448C>T (p.Leu150=)
|
rs768270236
|
0.00003
|
NM_001008212.2(OPTN):c.675C>T (p.Tyr225=)
|
rs745394420
|
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.882+20G>A
|
rs758172702
|
0.00003
|
NM_001008212.2(OPTN):c.1312G>A (p.Ala438Thr)
|
rs768591421
|
0.00002
|
NM_001008212.2(OPTN):c.1319A>G (p.Lys440Arg)
|
rs577925671
|
0.00002
|
NM_001008212.2(OPTN):c.1324C>T (p.Leu442=)
|
rs367641761
|
0.00002
|
NM_001008212.2(OPTN):c.1402-7C>T
|
rs762343666
|
0.00002
|
NM_001008212.2(OPTN):c.1569G>A (p.Ala523=)
|
rs771316696
|
0.00002
|
NM_001008212.2(OPTN):c.1612+17C>T
|
rs767328211
|
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.883-10C>T
|
rs774128248
|
0.00002
|
NM_001008212.2(OPTN):c.883-17G>T
|
rs561692004
|
0.00002
|
NM_001008212.2(OPTN):c.1006G>T (p.Ala336Ser)
|
rs1248850820
|
0.00001
|
NM_001008212.2(OPTN):c.1038A>T (p.Ser346=)
|
rs181131178
|
0.00001
|
NM_001008212.2(OPTN):c.1071T>C (p.Thr357=)
|
rs2539067230
|
0.00001
|
NM_001008212.2(OPTN):c.1088T>C (p.Leu363Pro)
|
rs778506831
|
0.00001
|
NM_001008212.2(OPTN):c.1128G>A (p.Gln376=)
|
rs780536013
|
0.00001
|
NM_001008212.2(OPTN):c.1132A>G (p.Lys378Glu)
|
rs2539067341
|
0.00001
|
NM_001008212.2(OPTN):c.1149-2A>G
|
rs867368757
|
0.00001
|
NM_001008212.2(OPTN):c.1229T>C (p.Leu410Pro)
|
rs747263866
|
0.00001
|
NM_001008212.2(OPTN):c.1242+6C>T
|
rs906152658
|
0.00001
|
NM_001008212.2(OPTN):c.1250A>C (p.Lys417Thr)
|
rs758895451
|
0.00001
|
NM_001008212.2(OPTN):c.1289_1290del (p.Leu430fs)
|
rs1206423781
|
0.00001
|
NM_001008212.2(OPTN):c.1320A>G (p.Lys440=)
|
rs1459115466
|
0.00001
|
NM_001008212.2(OPTN):c.1330A>G (p.Met444Val)
|
rs900961302
|
0.00001
|
NM_001008212.2(OPTN):c.1352T>C (p.Ile451Thr)
|
rs772864480
|
0.00001
|
NM_001008212.2(OPTN):c.1372C>T (p.Leu458=)
|
rs760304751
|
0.00001
|
NM_001008212.2(OPTN):c.1386C>T (p.Thr462=)
|
rs765547990
|
0.00001
|
NM_001008212.2(OPTN):c.1403T>G (p.Met468Arg)
|
rs747481280
|
0.00001
|
NM_001008212.2(OPTN):c.1428T>C (p.His476=)
|
rs767738080
|
0.00001
|
NM_001008212.2(OPTN):c.1443G>A (p.Ala481=)
|
rs370287061
|
0.00001
|
NM_001008212.2(OPTN):c.1468G>A (p.Glu490Lys)
|
rs771943938
|
0.00001
|
NM_001008212.2(OPTN):c.1490C>G (p.Ala497Gly)
|
rs956159636
|
0.00001
|
NM_001008212.2(OPTN):c.1510G>T (p.Asp504Tyr)
|
rs774816761
|
0.00001
|
NM_001008212.2(OPTN):c.1532+14A>G
|
rs1402791510
|
0.00001
|
NM_001008212.2(OPTN):c.1546G>C (p.Glu516Gln)
|
rs757107215
|
0.00001
|
NM_001008212.2(OPTN):c.1556G>A (p.Ser519Asn)
|
rs745350388
|
0.00001
|
NM_001008212.2(OPTN):c.1558C>T (p.Arg520Cys)
|
rs755873234
|
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.1670A>C (p.Lys557Thr)
|
rs1357375850
|
0.00001
|
NM_001008212.2(OPTN):c.1714G>A (p.Val572Met)
|
rs1258718059
|
0.00001
|
NM_001008212.2(OPTN):c.1722T>C (p.Asp574=)
|
rs1470603982
|
0.00001
|
NM_001008212.2(OPTN):c.1724G>A (p.Cys575Tyr)
|
rs896672755
|
0.00001
|
NM_001008212.2(OPTN):c.398G>A (p.Arg133Lys)
|
rs1269604352
|
0.00001
|
NM_001008212.2(OPTN):c.435C>T (p.Thr145=)
|
rs1042488570
|
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.450dup (p.Gln151fs)
|
rs1283443715
|
0.00001
|
NM_001008212.2(OPTN):c.481G>A (p.Val161Met)
|
rs776058639
|
0.00001
|
NM_001008212.2(OPTN):c.493C>T (p.Gln165Ter)
|
rs1401721711
|
0.00001
|
NM_001008212.2(OPTN):c.528T>C (p.Asp176=)
|
rs754892837
|
0.00001
|
NM_001008212.2(OPTN):c.582A>G (p.Glu194=)
|
rs776613114
|
0.00001
|
NM_001008212.2(OPTN):c.605C>T (p.Thr202Met)
|
rs199700857
|
0.00001
|
NM_001008212.2(OPTN):c.626+18C>T
|
rs754267730
|
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.626C>T (p.Thr209Met)
|
rs1026407971
|
0.00001
|
NM_001008212.2(OPTN):c.644G>A (p.Arg215Lys)
|
rs369585614
|
0.00001
|
NM_001008212.2(OPTN):c.669G>T (p.Lys223Asn)
|
rs778107336
|
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.701G>A (p.Ser234Asn)
|
rs768679465
|
0.00001
|
NM_001008212.2(OPTN):c.703C>T (p.Gln235Ter)
|
rs1371904281
|
0.00001
|
NM_001008212.2(OPTN):c.729G>T (p.Gly243=)
|
rs1313009234
|
0.00001
|
NM_001008212.2(OPTN):c.754G>C (p.Val252Leu)
|
rs760339006
|
0.00001
|
NM_001008212.2(OPTN):c.779G>A (p.Arg260Lys)
|
rs1173642910
|
0.00001
|
NM_001008212.2(OPTN):c.785C>A (p.Ser262Ter)
|
rs750571210
|
0.00001
|
NM_001008212.2(OPTN):c.804A>C (p.Thr268=)
|
rs2539062179
|
0.00001
|
NM_001008212.2(OPTN):c.867G>C (p.Glu289Asp)
|
rs143727251
|
0.00001
|
NM_001008212.2(OPTN):c.875C>T (p.Pro292Leu)
|
rs762237396
|
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.924T>G (p.Ser308=)
|
rs779638416
|
0.00001
|
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)_(13164507_?)del
|
|
|
NC_000010.10:g.(?_13164365)_(13168059_?)del
|
|
|
NC_000010.10:g.(?_13164365)_(13168059_?)dup
|
|
|
NC_000010.10:g.(?_13169725)_(13175601_?)del
|
|
|
NC_000010.11:g.(?_13109113)_(13112645_?)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.1022A>T (p.Asn341Ile)
|
rs1166767647
|
|
NM_001008212.2(OPTN):c.1077A>G (p.Lys359=)
|
|
|
NM_001008212.2(OPTN):c.1078_1079del (p.Lys360fs)
|
rs1833438306
|
|
NM_001008212.2(OPTN):c.1103del (p.Met368fs)
|
rs1564365123
|
|
NM_001008212.2(OPTN):c.1107A>G (p.Leu369=)
|
rs149806984
|
|
NM_001008212.2(OPTN):c.1149-13T>A
|
rs1833449149
|
|
NM_001008212.2(OPTN):c.1174A>G (p.Thr392Ala)
|
rs751226367
|
|
NM_001008212.2(OPTN):c.1192C>G (p.Gln398Glu)
|
|
|
NM_001008212.2(OPTN):c.1195G>T (p.Glu399Ter)
|
rs1657737496
|
|
NM_001008212.2(OPTN):c.1197_1198inv (p.His400Tyr)
|
|
|
NM_001008212.2(OPTN):c.1204_1210del (p.Asn401_Asn402insTer)
|
rs764596973
|
|
NM_001008212.2(OPTN):c.1240G>T (p.Glu414Ter)
|
|
|
NM_001008212.2(OPTN):c.1241_1242del (p.Glu414fs)
|
rs774772178
|
|
NM_001008212.2(OPTN):c.1243-4T>G
|
rs2539070735
|
|
NM_001008212.2(OPTN):c.1243T>G (p.Ser415Ala)
|
|
|
NM_001008212.2(OPTN):c.1253T>C (p.Val418Ala)
|
|
|
NM_001008212.2(OPTN):c.1254G>A (p.Val418=)
|
|
|
NM_001008212.2(OPTN):c.1287del (p.Lys429fs)
|
|
|
NM_001008212.2(OPTN):c.1304dup (p.Ala436fs)
|
rs1588449569
|
|
NM_001008212.2(OPTN):c.1318_1334dup (p.Asp445fs)
|
rs2539070896
|
|
NM_001008212.2(OPTN):c.1329A>G (p.Gln443=)
|
|
|
NM_001008212.2(OPTN):c.1333G>C (p.Asp445His)
|
rs866078831
|
|
NM_001008212.2(OPTN):c.1339A>G (p.Met447Val)
|
|
|
NM_001008212.2(OPTN):c.1340T>G (p.Met447Arg)
|
rs1045159479
|
|
NM_001008212.2(OPTN):c.1401+19C>T
|
|
|
NM_001008212.2(OPTN):c.1401+1G>A
|
rs1370982012
|
|
NM_001008212.2(OPTN):c.1401+9C>T
|
rs375398306
|
|
NM_001008212.2(OPTN):c.1402-11del
|
rs753381280
|
|
NM_001008212.2(OPTN):c.1402-3C>G
|
rs1588452749
|
|
NM_001008212.2(OPTN):c.1447G>C (p.Glu483Gln)
|
rs2131528196
|
|
NM_001008212.2(OPTN):c.1456C>T (p.His486Tyr)
|
rs1564368754
|
|
NM_001008212.2(OPTN):c.1508A>G (p.Asn503Ser)
|
|
|
NM_001008212.2(OPTN):c.1509T>G (p.Asn503Lys)
|
rs769148305
|
|
NM_001008212.2(OPTN):c.1532+10AG[3]
|
rs374302388
|
|
NM_001008212.2(OPTN):c.1552C>T (p.Gln518Ter)
|
rs780777015
|
|
NM_001008212.2(OPTN):c.1558dup (p.Arg520fs)
|
rs2539080525
|
|
NM_001008212.2(OPTN):c.1562A>G (p.His521Arg)
|
|
|
NM_001008212.2(OPTN):c.1568C>A (p.Ala523Glu)
|
rs747569110
|
|
NM_001008212.2(OPTN):c.1568C>T (p.Ala523Val)
|
|
|
NM_001008212.2(OPTN):c.1578T>C (p.Ser526=)
|
|
|
NM_001008212.2(OPTN):c.1583_1584del (p.Asp527_Ser528insTer)
|
rs1446908199
|
|
NM_001008212.2(OPTN):c.1603G>C (p.Val535Leu)
|
|
|
NM_001008212.2(OPTN):c.1612+17C>A
|
rs767328211
|
|
NM_001008212.2(OPTN):c.1613-13T>C
|
rs1833708819
|
|
NM_001008212.2(OPTN):c.1613-1G>A
|
rs2539086992
|
|
NM_001008212.2(OPTN):c.1613-3C>T
|
rs2131534998
|
|
NM_001008212.2(OPTN):c.1613G>A (p.Gly538Glu)
|
rs967459877
|
|
NM_001008212.2(OPTN):c.1627_1628delinsCT (p.Asp543Leu)
|
rs2131535039
|
|
NM_001008212.2(OPTN):c.1636C>T (p.Gln546Ter)
|
rs2539087061
|
|
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>A (p.Pro551=)
|
rs563795803
|
|
NM_001008212.2(OPTN):c.1653G>T (p.Pro551=)
|
rs563795803
|
|
NM_001008212.2(OPTN):c.1666C>T (p.Pro556Ser)
|
rs2539087117
|
|
NM_001008212.2(OPTN):c.1670A>G (p.Lys557Arg)
|
rs1357375850
|
|
NM_001008212.2(OPTN):c.1674T>C (p.Cys558=)
|
rs1833710699
|
|
NM_001008212.2(OPTN):c.1688C>T (p.Pro563Leu)
|
rs754699044
|
|
NM_001008212.2(OPTN):c.1691A>G (p.Asp564Gly)
|
rs981878192
|
|
NM_001008212.2(OPTN):c.1704A>C (p.Leu568Phe)
|
rs1588456364
|
|
NM_001008212.2(OPTN):c.1705C>T (p.Gln569Ter)
|
rs1275810602
|
|
NM_001008212.2(OPTN):c.1718T>C (p.Met573Thr)
|
rs1564370960
|
|
NM_001008212.2(OPTN):c.370-13T>C
|
rs1410187067
|
|
NM_001008212.2(OPTN):c.370-13T>G
|
|
|
NM_001008212.2(OPTN):c.370-1G>A
|
rs2131488754
|
|
NM_001008212.2(OPTN):c.377C>A (p.Thr126Asn)
|
rs142282480
|
|
NM_001008212.2(OPTN):c.385T>C (p.Ser129Pro)
|
rs369071606
|
|
NM_001008212.2(OPTN):c.398G>C (p.Arg133Thr)
|
rs1269604352
|
|
NM_001008212.2(OPTN):c.402C>A (p.Ala134=)
|
rs113955718
|
|
NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter)
|
rs140599944
|
|
NM_001008212.2(OPTN):c.404A>C (p.Glu135Ala)
|
rs372714385
|
|
NM_001008212.2(OPTN):c.412C>A (p.Gln138Lys)
|
rs2539041511
|
|
NM_001008212.2(OPTN):c.419_420insTC (p.Lys140fs)
|
rs2539041527
|
|
NM_001008212.2(OPTN):c.433A>G (p.Thr145Ala)
|
rs2539041552
|
|
NM_001008212.2(OPTN):c.440T>A (p.Val147Glu)
|
rs200863693
|
|
NM_001008212.2(OPTN):c.463G>T (p.Ala155Ser)
|
rs2539041653
|
|
NM_001008212.2(OPTN):c.475G>C (p.Gly159Arg)
|
|
|
NM_001008212.2(OPTN):c.489A>T (p.Glu163Asp)
|
rs113811959
|
|
NM_001008212.2(OPTN):c.523del (p.Glu175fs)
|
rs771268520
|
|
NM_001008212.2(OPTN):c.536T>A (p.Val179Asp)
|
rs778593114
|
|
NM_001008212.2(OPTN):c.552+11G>C
|
rs1015367767
|
|
NM_001008212.2(OPTN):c.553-12C>T
|
rs2539051037
|
|
NM_001008212.2(OPTN):c.553-6_553-5delinsGT
|
rs2539051058
|
|
NM_001008212.2(OPTN):c.560A>C (p.Glu187Ala)
|
|
|
NM_001008212.2(OPTN):c.568G>A (p.Gly190Arg)
|
|
|
NM_001008212.2(OPTN):c.591T>G (p.His197Gln)
|
rs2539051155
|
|
NM_001008212.2(OPTN):c.598G>A (p.Gly200Arg)
|
rs2539051176
|
|
NM_001008212.2(OPTN):c.609A>T (p.Arg203Ser)
|
rs1833208430
|
|
NM_001008212.2(OPTN):c.612A>G (p.Thr204=)
|
rs1588441388
|
|
NM_001008212.2(OPTN):c.616T>G (p.Ser206Ala)
|
rs960735645
|
|
NM_001008212.2(OPTN):c.617C>T (p.Ser206Phe)
|
|
|
NM_001008212.2(OPTN):c.621T>C (p.Thr207=)
|
|
|
NM_001008212.2(OPTN):c.626+14G>A
|
|
|
NM_001008212.2(OPTN):c.626+17T>A
|
rs2539051300
|
|
NM_001008212.2(OPTN):c.627-16C>T
|
rs769726736
|
|
NM_001008212.2(OPTN):c.627-7T>C
|
|
|
NM_001008212.2(OPTN):c.633G>A (p.Leu211=)
|
rs761224831
|
|
NM_001008212.2(OPTN):c.635C>A (p.Ser212Tyr)
|
rs1450047435
|
|
NM_001008212.2(OPTN):c.649A>T (p.Arg217Ter)
|
rs1328890259
|
|
NM_001008212.2(OPTN):c.666del (p.Lys223fs)
|
rs2539056279
|
|
NM_001008212.2(OPTN):c.678C>T (p.Phe226=)
|
rs560438634
|
|
NM_001008212.2(OPTN):c.759A>C (p.Ala253=)
|
rs147991854
|
|
NM_001008212.2(OPTN):c.759A>G (p.Ala253=)
|
|
|
NM_001008212.2(OPTN):c.762C>T (p.Leu254=)
|
rs1833282939
|
|
NM_001008212.2(OPTN):c.779+8A>G
|
rs2539056539
|
|
NM_001008212.2(OPTN):c.780-1G>C
|
rs759311192
|
|
NM_001008212.2(OPTN):c.780-2A>C
|
rs768117011
|
|
NM_001008212.2(OPTN):c.822T>A (p.Ile274=)
|
rs747912539
|
|
NM_001008212.2(OPTN):c.843C>T (p.Ser281=)
|
rs1833370843
|
|
NM_001008212.2(OPTN):c.847G>C (p.Glu283Gln)
|
rs1833371043
|
|
NM_001008212.2(OPTN):c.882+2_882+3del
|
rs2539062305
|
|
NM_001008212.2(OPTN):c.882+5G>A
|
rs766398912
|
|
NM_001008212.2(OPTN):c.883-10C>G
|
|
|
NM_001008212.2(OPTN):c.883-6T>C
|
rs1588446686
|
|
NM_001008212.2(OPTN):c.892G>A (p.Glu298Lys)
|
rs1833407271
|
|
NM_001008212.2(OPTN):c.898G>C (p.Glu300Gln)
|
|
|
NM_001008212.2(OPTN):c.918_922del (p.Thr307fs)
|
rs786205611
|
|
NM_001008212.2(OPTN):c.934G>A (p.Glu312Lys)
|
|
|
NM_001008212.2(OPTN):c.949C>G (p.His317Asp)
|
rs1387105883
|
|
NM_001008212.2(OPTN):c.950A>G (p.His317Arg)
|
rs747365111
|
|
NM_001008212.2(OPTN):c.951T>A (p.His317Gln)
|
|
|
NM_001008212.2(OPTN):c.953C>G (p.Thr318Arg)
|
rs2539065127
|
|
NM_001008212.2(OPTN):c.964= (p.Glu322=)
|
|
|
NM_001008212.2(OPTN):c.980A>G (p.Lys327Arg)
|
rs2539065197
|
|
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>A
|
|
|
NM_001008212.2(OPTN):c.999-16T>C
|
rs373405178
|
|
NM_001008212.2(OPTN):c.999-20G>A
|
rs2539067046
|
|