ClinVar Miner

List of variants studied for frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 409
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_013254.4(TBK1):c.978T>A (p.Ile326=) rs7486100 0.43650
NM_013254.4(TBK1):c.66T>C (p.Asn22=) rs41292019 0.03018
NM_013254.4(TBK1):c.1391T>C (p.Val464Ala) rs35635889 0.01470
NM_013254.4(TBK1):c.2139-11G>A rs41292027 0.00800
NM_013254.4(TBK1):c.1761-11C>T rs145696668 0.00344
NM_013254.4(TBK1):c.519G>A (p.Leu173=) rs73313869 0.00315
NM_013254.4(TBK1):c.9C>T (p.Ser3=) rs115692983 0.00280
NM_013254.4(TBK1):c.1522C>A (p.Leu508Ile) rs144424516 0.00245
NM_013254.4(TBK1):c.1110C>T (p.Phe370=) rs143590388 0.00155
NM_013254.4(TBK1):c.135C>T (p.Phe45=) rs11538420 0.00108
NM_013254.4(TBK1):c.1227C>T (p.Asp409=) rs150609728 0.00088
NM_013254.4(TBK1):c.1189+10G>A rs185457813 0.00061
NM_013254.4(TBK1):c.964C>T (p.His322Tyr) rs145905497 0.00033
NM_013254.4(TBK1):c.812G>A (p.Arg271Gln) rs56196591 0.00024
NM_013254.4(TBK1):c.1176A>G (p.Leu392=) rs141806113 0.00021
NM_013254.4(TBK1):c.1865A>G (p.Lys622Arg) rs199605037 0.00018
NM_013254.4(TBK1):c.916C>A (p.Leu306Ile) rs201970436 0.00018
NM_013254.4(TBK1):c.1957G>C (p.Glu653Gln) rs144370662 0.00015
NM_013254.4(TBK1):c.1659A>C (p.Gln553His) rs772256797 0.00014
NM_013254.4(TBK1):c.108T>C (p.Ala36=) rs202056661 0.00012
NM_013254.4(TBK1):c.378A>G (p.Leu126=) rs144462850 0.00011
NM_013254.4(TBK1):c.871A>G (p.Lys291Glu) rs34774243 0.00011
NM_013254.4(TBK1):c.1073G>A (p.Arg358His) rs374208742 0.00010
NM_013254.4(TBK1):c.175T>C (p.Leu59=) rs545011546 0.00010
NM_013254.4(TBK1):c.630A>T (p.Thr210=) rs201336522 0.00008
NM_013254.4(TBK1):c.87+8C>T rs148982416 0.00008
NM_013254.4(TBK1):c.1179A>G (p.Ile393Met) rs755520364 0.00007
NM_013254.4(TBK1):c.1190-9A>G rs375547018 0.00007
NM_013254.4(TBK1):c.2175C>T (p.Asn725=) rs369222946 0.00007
NM_013254.4(TBK1):c.1797G>A (p.Thr599=) rs758803587 0.00006
NM_013254.4(TBK1):c.1718G>A (p.Arg573His) rs186475789 0.00005
NM_013254.4(TBK1):c.1057A>G (p.Ile353Val) rs755655622 0.00004
NM_013254.4(TBK1):c.1062C>T (p.Tyr354=) rs141340205 0.00004
NM_013254.4(TBK1):c.125A>G (p.Asn42Ser) rs748061846 0.00004
NM_013254.4(TBK1):c.1508C>T (p.Thr503Ile) rs779715292 0.00004
NM_013254.4(TBK1):c.1603G>A (p.Ala535Thr) rs199905735 0.00004
NM_013254.4(TBK1):c.1792A>G (p.Met598Val) rs899858451 0.00004
NM_013254.4(TBK1):c.2170C>T (p.Arg724Cys) rs185524052 0.00004
NM_013254.4(TBK1):c.723G>A (p.Lys241=) rs371799560 0.00004
NM_013254.4(TBK1):c.1072C>T (p.Arg358Cys) rs780192375 0.00003
NM_013254.4(TBK1):c.1190T>C (p.Ile397Thr) rs755069538 0.00003
NM_013254.4(TBK1):c.1207C>T (p.His403Tyr) rs749709445 0.00003
NM_013254.4(TBK1):c.1521+20C>T rs769754825 0.00003
NM_013254.4(TBK1):c.1839G>T (p.Leu613Phe) rs368859659 0.00003
NM_013254.4(TBK1):c.2177T>C (p.Val726Ala) rs765585935 0.00003
NM_013254.4(TBK1):c.40A>G (p.Ile14Val) rs781325780 0.00003
NM_013254.4(TBK1):c.454G>C (p.Val152Leu) rs202011771 0.00003
NM_013254.4(TBK1):c.992C>T (p.Thr331Ile) rs200758840 0.00003
NM_013254.4(TBK1):c.996T>A (p.Ala332=) rs752407982 0.00003
NM_013254.4(TBK1):c.1070G>A (p.Arg357Gln) rs758357594 0.00002
NM_013254.4(TBK1):c.1091G>A (p.Gly364Glu) rs748571947 0.00002
NM_013254.4(TBK1):c.1116A>G (p.Lys372=) rs775134475 0.00002
NM_013254.4(TBK1):c.1292C>T (p.Thr431Ile) rs1433610854 0.00002
NM_013254.4(TBK1):c.1485A>G (p.Leu495=) rs771930992 0.00002
NM_013254.4(TBK1):c.1644-10C>T rs926345096 0.00002
NM_013254.4(TBK1):c.1717C>T (p.Arg573Cys) rs772820487 0.00002
NM_013254.4(TBK1):c.1751A>G (p.Lys584Arg) rs375610142 0.00002
NM_013254.4(TBK1):c.314A>G (p.Tyr105Cys) rs1366668789 0.00002
NM_013254.4(TBK1):c.802A>G (p.Ser268Gly) rs746971642 0.00002
NM_013254.4(TBK1):c.1037T>C (p.Ile346Thr) rs763874949 0.00001
NM_013254.4(TBK1):c.1069C>T (p.Arg357Ter) rs1328949478 0.00001
NM_013254.4(TBK1):c.1135A>G (p.Ile379Val) rs748864346 0.00001
NM_013254.4(TBK1):c.1150C>T (p.Arg384Trp) rs753595352 0.00001
NM_013254.4(TBK1):c.1201A>G (p.Lys401Glu) rs756751089 0.00001
NM_013254.4(TBK1):c.1330C>T (p.Arg444Ter) rs142030898 0.00001
NM_013254.4(TBK1):c.1340+13T>C rs1010954287 0.00001
NM_013254.4(TBK1):c.1340+8A>G rs2040817313 0.00001
NM_013254.4(TBK1):c.1422C>T (p.Asn474=) rs747788401 0.00001
NM_013254.4(TBK1):c.1443A>T (p.Val481=) rs1396706988 0.00001
NM_013254.4(TBK1):c.1476G>A (p.Ala492=) rs139653737 0.00001
NM_013254.4(TBK1):c.1505A>G (p.His502Arg) rs1206925876 0.00001
NM_013254.4(TBK1):c.1584A>G (p.Pro528=) rs1592375893 0.00001
NM_013254.4(TBK1):c.1619A>T (p.Glu540Val) rs768023625 0.00001
NM_013254.4(TBK1):c.1960-19_1960-18insC rs1213123906 0.00001
NM_013254.4(TBK1):c.2047T>C (p.Leu683=) rs369067312 0.00001
NM_013254.4(TBK1):c.2086G>A (p.Glu696Lys) rs748112833 0.00001
NM_013254.4(TBK1):c.301C>G (p.Pro101Ala) rs371955059 0.00001
NM_013254.4(TBK1):c.380G>A (p.Arg127Gln) rs1337698475 0.00001
NM_013254.4(TBK1):c.381A>C (p.Arg127=) rs749847349 0.00001
NM_013254.4(TBK1):c.421dup (p.Ile141fs) rs1565814492 0.00001
NM_013254.4(TBK1):c.437G>C (p.Gly146Ala) rs41292021 0.00001
NM_013254.4(TBK1):c.438G>A (p.Gly146=) rs751439290 0.00001
NM_013254.4(TBK1):c.51A>G (p.Gln17=) rs769584803 0.00001
NM_013254.4(TBK1):c.540+8_540+9del rs761043079 0.00001
NM_013254.4(TBK1):c.683G>A (p.Arg228His) rs748622208 0.00001
NM_013254.4(TBK1):c.734C>T (p.Ala245Val) rs751890932 0.00001
NM_013254.4(TBK1):c.829C>G (p.Leu277Val) rs905184241 0.00001
NM_013254.4(TBK1):c.88-9T>C rs758061744 0.00001
NM_013254.4(TBK1):c.945G>A (p.Ser315=) rs775905530 0.00001
NM_013254.4(TBK1):c.962C>T (p.Ala321Val) rs762705031 0.00001
NM_013254.4(TBK1):c.992+1G>A rs1341055534 0.00001
GRCh37/hg19 12q14.2(chr12:64868010-64895161)
NC_000012.11:g.(?_64849651)_(64854129_?)del
NC_000012.11:g.(?_64849651)_(64895161_?)del
NC_000012.11:g.(?_64875602)_(64879817_?)del
NC_000012.12:g.64496949del
NM_004984.4(KIF5A):c.3005A>G (p.Asp1002Gly) rs1882640177
NM_013254.3(TBK1):c.1644-5_1644-2del rs755646937
NM_013254.4(TBK1):c.1000A>G (p.Ile334Val)
NM_013254.4(TBK1):c.101T>G (p.Leu34Ter)
NM_013254.4(TBK1):c.1028C>G (p.Thr343Ser)
NM_013254.4(TBK1):c.1051G>A (p.Glu351Lys)
NM_013254.4(TBK1):c.1058T>C (p.Ile353Thr)
NM_013254.4(TBK1):c.1067G>A (p.Gly356Glu)
NM_013254.4(TBK1):c.1089T>C (p.Pro363=)
NM_013254.4(TBK1):c.110T>G (p.Ile37Ser) rs2136056628
NM_013254.4(TBK1):c.1148G>T (p.Ser383Ile) rs1592369002
NM_013254.4(TBK1):c.1151G>A (p.Arg384Gln)
NM_013254.4(TBK1):c.1153G>T (p.Glu385Ter) rs765106259
NM_013254.4(TBK1):c.1180T>G (p.Tyr394Asp) rs1267274595
NM_013254.4(TBK1):c.1189+1G>A rs2136078402
NM_013254.4(TBK1):c.1189+1G>T rs2136078402
NM_013254.4(TBK1):c.1195C>T (p.Leu399Phe)
NM_013254.4(TBK1):c.1206A>G (p.Val402=)
NM_013254.4(TBK1):c.1213C>T (p.Arg405Cys)
NM_013254.4(TBK1):c.1219G>C (p.Asp407His)
NM_013254.4(TBK1):c.1225G>T (p.Asp409Tyr)
NM_013254.4(TBK1):c.1228G>A (p.Gly410Arg)
NM_013254.4(TBK1):c.1234del (p.Ala412fs)
NM_013254.4(TBK1):c.1244C>A (p.Ala415Asp)
NM_013254.4(TBK1):c.1248+11A>T
NM_013254.4(TBK1):c.1248+18T>A
NM_013254.4(TBK1):c.1249-5A>C
NM_013254.4(TBK1):c.1255A>G (p.Thr419Ala)
NM_013254.4(TBK1):c.1259_1264dup (p.Val421_Val422insGlyVal)
NM_013254.4(TBK1):c.1260G>C (p.Gly420=)
NM_013254.4(TBK1):c.1261G>A (p.Val421Ile) rs201332131
NM_013254.4(TBK1):c.1272del (p.Cys423_Tyr424insTer) rs2040816609
NM_013254.4(TBK1):c.1286C>G (p.Ala429Gly)
NM_013254.4(TBK1):c.128T>G (p.Ile43Arg)
NM_013254.4(TBK1):c.1305T>A (p.Tyr435Ter)
NM_013254.4(TBK1):c.1307A>G (p.Gln436Arg)
NM_013254.4(TBK1):c.1318C>T (p.Arg440Ter) rs769588220
NM_013254.4(TBK1):c.1319G>A (p.Arg440Gln)
NM_013254.4(TBK1):c.1321A>C (p.Lys441Gln) rs2136079527
NM_013254.4(TBK1):c.1323G>A (p.Lys441=)
NM_013254.4(TBK1):c.1324G>C (p.Gly442Arg)
NM_013254.4(TBK1):c.1331G>C (p.Arg444Pro)
NM_013254.4(TBK1):c.1333T>C (p.Trp445Arg)
NM_013254.4(TBK1):c.1335G>A (p.Trp445Ter) rs2136079548
NM_013254.4(TBK1):c.1338G>T (p.Leu446=)
NM_013254.4(TBK1):c.1340+1G>A rs767898276
NM_013254.4(TBK1):c.1340+2dup
NM_013254.4(TBK1):c.1340+3A>G
NM_013254.4(TBK1):c.1341-10_1341-9del
NM_013254.4(TBK1):c.1341-1G>A
NM_013254.4(TBK1):c.1341-1G>C
NM_013254.4(TBK1):c.1341-3del rs201728462
NM_013254.4(TBK1):c.1349_1352del (p.Ile450fs) rs876657404
NM_013254.4(TBK1):c.1359T>G (p.Asp453Glu) rs1565821771
NM_013254.4(TBK1):c.1364A>G (p.Asn455Ser)
NM_013254.4(TBK1):c.1364A>T (p.Asn455Ile)
NM_013254.4(TBK1):c.1372_1373del (p.Val458fs)
NM_013254.4(TBK1):c.1382dup (p.Thr462fs) rs1178717934
NM_013254.4(TBK1):c.1385_1388del (p.Thr462fs)
NM_013254.4(TBK1):c.1387_1388del (p.Glu463fs) rs1555204731
NM_013254.4(TBK1):c.140G>A (p.Arg47His)
NM_013254.4(TBK1):c.1412G>A (p.Cys471Tyr)
NM_013254.4(TBK1):c.1412G>C (p.Cys471Ser) rs369875862
NM_013254.4(TBK1):c.1414A>G (p.Ile472Val)
NM_013254.4(TBK1):c.142C>G (p.Pro48Ala) rs2136056652
NM_013254.4(TBK1):c.1436_1437del (p.Val479fs) rs876657405
NM_013254.4(TBK1):c.1441G>A (p.Val481Ile)
NM_013254.4(TBK1):c.1442+17C>T
NM_013254.4(TBK1):c.1442+18T>G
NM_013254.4(TBK1):c.1443-15T>C
NM_013254.4(TBK1):c.1443-1G>T
NM_013254.4(TBK1):c.1443-6A>G rs1033675488
NM_013254.4(TBK1):c.1451A>G (p.Lys484Arg)
NM_013254.4(TBK1):c.1466A>G (p.Asn489Ser) rs2136082596
NM_013254.4(TBK1):c.1475C>G (p.Ala492Gly)
NM_013254.4(TBK1):c.147G>A (p.Val49=)
NM_013254.4(TBK1):c.1496C>G (p.Ser499Ter)
NM_013254.4(TBK1):c.149A>C (p.Asp50Ala) rs1010930015
NM_013254.4(TBK1):c.14C>A (p.Ser5Tyr)
NM_013254.4(TBK1):c.1521+3_1521+6del
NM_013254.4(TBK1):c.1522-8_1522-7del
NM_013254.4(TBK1):c.1532C>T (p.Ser511Phe)
NM_013254.4(TBK1):c.1537G>A (p.Gly513Arg)
NM_013254.4(TBK1):c.1539A>C (p.Gly513=)
NM_013254.4(TBK1):c.153T>C (p.Val51=)
NM_013254.4(TBK1):c.1543A>G (p.Ile515Val)
NM_013254.4(TBK1):c.1551C>T (p.Thr517=) rs1460627390
NM_013254.4(TBK1):c.1554T>C (p.Ser518=)
NM_013254.4(TBK1):c.1566C>G (p.Ile522Met) rs375618295
NM_013254.4(TBK1):c.1566C>T (p.Ile522=) rs375618295
NM_013254.4(TBK1):c.1567G>A (p.Asp523Asn)
NM_013254.4(TBK1):c.1580C>G (p.Ser527Cys) rs922333386
NM_013254.4(TBK1):c.1588G>A (p.Gly530Arg) rs2040916858
NM_013254.4(TBK1):c.1595T>C (p.Leu532Pro) rs1192216525
NM_013254.4(TBK1):c.1602C>T (p.Asp534=)
NM_013254.4(TBK1):c.1612C>T (p.His538Tyr)
NM_013254.4(TBK1):c.1622G>A (p.Gly541Asp) rs2040917422
NM_013254.4(TBK1):c.1631C>T (p.Pro544Leu)
NM_013254.4(TBK1):c.1638_1641del (p.Asp546fs)
NM_013254.4(TBK1):c.1643+19C>T
NM_013254.4(TBK1):c.1643+20G>A
NM_013254.4(TBK1):c.1644-2A>T
NM_013254.4(TBK1):c.1656A>G (p.Leu552=)
NM_013254.4(TBK1):c.1675A>G (p.Met559Val)
NM_013254.4(TBK1):c.1691A>G (p.Tyr564Cys) rs776059942
NM_013254.4(TBK1):c.1693C>T (p.Gln565Ter)
NM_013254.4(TBK1):c.1717C>A (p.Arg573Ser)
NM_013254.4(TBK1):c.1720+16T>A
NM_013254.4(TBK1):c.1720+2dup rs2136087264
NM_013254.4(TBK1):c.1721-9T>A
NM_013254.4(TBK1):c.1727C>G (p.Ala576Gly) rs767446906
NM_013254.4(TBK1):c.172G>A (p.Val58Met) rs1042991833
NM_013254.4(TBK1):c.1739A>G (p.Glu580Gly) rs2040925135
NM_013254.4(TBK1):c.1740del (p.Glu580fs) rs2136087722
NM_013254.4(TBK1):c.1751A>C (p.Lys584Thr)
NM_013254.4(TBK1):c.1760+1G>A
NM_013254.4(TBK1):c.1760+4_1760+7del rs753802322
NM_013254.4(TBK1):c.1761-3C>G
NM_013254.4(TBK1):c.1761-7A>C
NM_013254.4(TBK1):c.1770G>A (p.Leu590=) rs753990284
NM_013254.4(TBK1):c.1770_1771del (p.Tyr591fs) rs2040932099
NM_013254.4(TBK1):c.1779T>A (p.His593Gln)
NM_013254.4(TBK1):c.1785A>G (p.Thr595=)
NM_013254.4(TBK1):c.1796C>T (p.Thr599Met)
NM_013254.4(TBK1):c.1803T>G (p.Phe601Leu) rs1565824642
NM_013254.4(TBK1):c.1816G>A (p.Val606Ile) rs2136088188
NM_013254.4(TBK1):c.1832_1833insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGTATGAGGC (p.Ala611_Phe612insProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysLysValTer)
NM_013254.4(TBK1):c.1846_1849del (p.Ser616fs) rs2136088227
NM_013254.4(TBK1):c.184_187del (p.Leu62fs)
NM_013254.4(TBK1):c.1852G>A (p.Glu618Lys)
NM_013254.4(TBK1):c.1856G>A (p.Trp619Ter)
NM_013254.4(TBK1):c.1862+13_1862+15del
NM_013254.4(TBK1):c.1862+4del
NM_013254.4(TBK1):c.1862+7A>C rs2040933572
NM_013254.4(TBK1):c.1863-1G>A
NM_013254.4(TBK1):c.1876C>A (p.Leu626Ile) rs2136088345
NM_013254.4(TBK1):c.1879A>G (p.Arg627Gly)
NM_013254.4(TBK1):c.1887G>C (p.Gln629His) rs752047246
NM_013254.4(TBK1):c.1889TAT[1] (p.Leu631del) rs2136088359
NM_013254.4(TBK1):c.188A>G (p.Asn63Ser)
NM_013254.4(TBK1):c.1895C>T (p.Ser632Leu)
NM_013254.4(TBK1):c.1917T>C (p.Asp639=)
NM_013254.4(TBK1):c.1917del (p.Asp639fs)
NM_013254.4(TBK1):c.1922AAG[2] (p.Glu643del) rs1402092579
NM_013254.4(TBK1):c.1924G>A (p.Glu642Lys)
NM_013254.4(TBK1):c.1934C>G (p.Ser645Ter) rs2136088420
NM_013254.4(TBK1):c.1952C>A (p.Thr651Asn) rs1592376939
NM_013254.4(TBK1):c.1954_1956del (p.Asn652del) rs141727722
NM_013254.4(TBK1):c.1956del (p.Asn652fs)
NM_013254.4(TBK1):c.1959+13G>A
NM_013254.4(TBK1):c.1959+17A>C
NM_013254.4(TBK1):c.1960-10G>T rs371275822
NM_013254.4(TBK1):c.1960-20_1960-19insC
NM_013254.4(TBK1):c.1960-2A>T
NM_013254.4(TBK1):c.1960-7G>T rs768189768
NM_013254.4(TBK1):c.1969A>G (p.Thr657Ala)
NM_013254.4(TBK1):c.1972_1973del (p.Leu658fs) rs2136088934
NM_013254.4(TBK1):c.1978C>T (p.Gln660Ter) rs2136088954
NM_013254.4(TBK1):c.198T>C (p.Asn66=)
NM_013254.4(TBK1):c.1991C>T (p.Thr664Ile)
NM_013254.4(TBK1):c.201T>C (p.Ile67=)
NM_013254.4(TBK1):c.2035A>G (p.Ser679Gly) rs2136089009
NM_013254.4(TBK1):c.2043C>T (p.Asn681=) rs759638468
NM_013254.4(TBK1):c.2048T>C (p.Leu683Ser) rs1306279522
NM_013254.4(TBK1):c.204C>G (p.Val68=)
NM_013254.4(TBK1):c.2066+11C>G
NM_013254.4(TBK1):c.2067-14_2067-11del
NM_013254.4(TBK1):c.2067-18G>C
NM_013254.4(TBK1):c.2067-7T>A rs1187318445
NM_013254.4(TBK1):c.2067-7_2067-3del
NM_013254.4(TBK1):c.2067-9T>G
NM_013254.4(TBK1):c.2069T>G (p.Met690Arg)
NM_013254.4(TBK1):c.2075A>G (p.Lys692Arg)
NM_013254.4(TBK1):c.2078T>C (p.Leu693Ser) rs2136089194
NM_013254.4(TBK1):c.2079_2082del (p.Glu695fs)
NM_013254.4(TBK1):c.2080_2082del (p.Lys694del) rs2040947403
NM_013254.4(TBK1):c.2095G>A (p.Gly699Arg)
NM_013254.4(TBK1):c.2100G>T (p.Val700=)
NM_013254.4(TBK1):c.2125_2133del (p.His709_Leu711del)
NM_013254.4(TBK1):c.2129T>A (p.Ile710Asn)
NM_013254.4(TBK1):c.2138+12A>C
NM_013254.4(TBK1):c.2138+2T>C rs876657406
NM_013254.4(TBK1):c.2139-5_2139-3dup
NM_013254.4(TBK1):c.2139-7G>A rs534404556
NM_013254.4(TBK1):c.2139-9G>A
NM_013254.4(TBK1):c.2139G>T (p.Arg713Ser) rs2136092217
NM_013254.4(TBK1):c.2155A>G (p.Met719Val)
NM_013254.4(TBK1):c.2165G>A (p.Gly722Asp)
NM_013254.4(TBK1):c.2167C>G (p.Leu723Val) rs2136092255
NM_013254.4(TBK1):c.2171G>A (p.Arg724His)
NM_013254.4(TBK1):c.2174A>G (p.Asn725Ser) rs2136092274
NM_013254.4(TBK1):c.2176G>A (p.Val726Ile)
NM_013254.4(TBK1):c.217A>G (p.Ile73Val)
NM_013254.4(TBK1):c.2185C>T (p.Leu729Phe)
NM_013254.4(TBK1):c.228+19A>G
NM_013254.4(TBK1):c.228+4A>C rs2136056750
NM_013254.4(TBK1):c.229-12_229-11insG
NM_013254.4(TBK1):c.229-14_229-13insC
NM_013254.4(TBK1):c.229-4dup rs57810028
NM_013254.4(TBK1):c.229-5_229-4dup
NM_013254.4(TBK1):c.229-9_229-8insG rs2136060930
NM_013254.4(TBK1):c.22C>T (p.Leu8=)
NM_013254.4(TBK1):c.230C>T (p.Thr77Ile)
NM_013254.4(TBK1):c.230CAA[2] (p.Thr79del) rs748007618
NM_013254.4(TBK1):c.236C>G (p.Thr79Arg)
NM_013254.4(TBK1):c.236C>T (p.Thr79Ile)
NM_013254.4(TBK1):c.253A>G (p.Ile85Val)
NM_013254.4(TBK1):c.270A>C (p.Pro90=)
NM_013254.4(TBK1):c.281T>C (p.Leu94Ser)
NM_013254.4(TBK1):c.286A>G (p.Thr96Ala)
NM_013254.4(TBK1):c.289G>A (p.Val97Ile)
NM_013254.4(TBK1):c.292T>A (p.Leu98Ile) rs767134050
NM_013254.4(TBK1):c.2T>C (p.Met1Thr)
NM_013254.4(TBK1):c.300_309del (p.Ser102fs)
NM_013254.4(TBK1):c.312C>T (p.Ala104=)
NM_013254.4(TBK1):c.318A>T (p.Gly106=)
NM_013254.4(TBK1):c.330T>C (p.Ser110=) rs1592356440
NM_013254.4(TBK1):c.337T>G (p.Leu113Val)
NM_013254.4(TBK1):c.349C>T (p.Arg117Ter) rs757203783
NM_013254.4(TBK1):c.350G>A (p.Arg117Gln)
NM_013254.4(TBK1):c.352G>A (p.Asp118Asn)
NM_013254.4(TBK1):c.353A>T (p.Asp118Val)
NM_013254.4(TBK1):c.358+13A>G
NM_013254.4(TBK1):c.358+17A>G
NM_013254.4(TBK1):c.358+4T>C
NM_013254.4(TBK1):c.358+5G>A rs2136061124
NM_013254.4(TBK1):c.358+9_358+12del rs769662604
NM_013254.4(TBK1):c.385A>T (p.Asn129Tyr)
NM_013254.4(TBK1):c.401G>A (p.Arg134His)
NM_013254.4(TBK1):c.402T>C (p.Arg134=)
NM_013254.4(TBK1):c.41T>C (p.Ile14Thr) rs2136052738
NM_013254.4(TBK1):c.422T>C (p.Ile141Thr)
NM_013254.4(TBK1):c.427C>T (p.Arg143Cys) rs1027249002
NM_013254.4(TBK1):c.428G>A (p.Arg143His)
NM_013254.4(TBK1):c.430G>A (p.Val144Ile)
NM_013254.4(TBK1):c.440A>G (p.Glu147Gly)
NM_013254.4(TBK1):c.447A>G (p.Gly149=)
NM_013254.4(TBK1):c.452C>G (p.Ser151Cys) rs55824172
NM_013254.4(TBK1):c.452C>T (p.Ser151Phe) rs55824172
NM_013254.4(TBK1):c.456_457del (p.Tyr153fs)
NM_013254.4(TBK1):c.4C>T (p.Gln2Ter)
NM_013254.4(TBK1):c.506A>G (p.Gln169Arg)
NM_013254.4(TBK1):c.511G>A (p.Val171Ile) rs2136063606
NM_013254.4(TBK1):c.519del (p.Tyr174fs)
NM_013254.4(TBK1):c.527C>T (p.Thr176Ile) rs2136063629
NM_013254.4(TBK1):c.533A>G (p.Glu178Gly)
NM_013254.4(TBK1):c.535T>C (p.Tyr179His) rs2136063631
NM_013254.4(TBK1):c.541-18T>C
NM_013254.4(TBK1):c.541-3T>G rs747738866
NM_013254.4(TBK1):c.541-9del rs369498196
NM_013254.4(TBK1):c.541-9dup rs369498196
NM_013254.4(TBK1):c.550A>G (p.Met184Val)
NM_013254.4(TBK1):c.563C>T (p.Ala188Val)
NM_013254.4(TBK1):c.574A>G (p.Lys192Glu) rs781700275
NM_013254.4(TBK1):c.591A>C (p.Lys197Asn)
NM_013254.4(TBK1):c.5A>G (p.Gln2Arg)
NM_013254.4(TBK1):c.608A>G (p.Asp203Gly)
NM_013254.4(TBK1):c.629C>T (p.Thr210Ile) rs2136069875
NM_013254.4(TBK1):c.639T>C (p.His213=)
NM_013254.4(TBK1):c.641C>A (p.Ala214Glu)
NM_013254.4(TBK1):c.649G>A (p.Gly217Arg)
NM_013254.4(TBK1):c.64A>G (p.Asn22Asp) rs576726084
NM_013254.4(TBK1):c.682C>T (p.Arg228Cys)
NM_013254.4(TBK1):c.68_70delinsCC (p.Val23fs)
NM_013254.4(TBK1):c.699G>A (p.Val233=)
NM_013254.4(TBK1):c.701+16A>T rs2136069949
NM_013254.4(TBK1):c.701+1G>A rs1592362719
NM_013254.4(TBK1):c.701+2T>G
NM_013254.4(TBK1):c.722del (p.Lys241fs)
NM_013254.4(TBK1):c.729T>G (p.Ser243=)
NM_013254.4(TBK1):c.72dup (p.Arg25fs) rs1279619378
NM_013254.4(TBK1):c.731G>T (p.Gly244Val)
NM_013254.4(TBK1):c.738_739del (p.Ser247fs)
NM_013254.4(TBK1):c.739T>C (p.Ser247Pro)
NM_013254.4(TBK1):c.73C>T (p.Arg25Cys)
NM_013254.4(TBK1):c.744A>C (p.Gly248=)
NM_013254.4(TBK1):c.745G>A (p.Val249Ile)
NM_013254.4(TBK1):c.748C>T (p.Gln250Ter)
NM_013254.4(TBK1):c.758A>C (p.Glu253Ala)
NM_013254.4(TBK1):c.763G>A (p.Gly255Arg)
NM_013254.4(TBK1):c.770T>C (p.Ile257Thr) rs1555203984
NM_013254.4(TBK1):c.780T>C (p.Ser260=)
NM_013254.4(TBK1):c.794T>C (p.Val265Ala)
NM_013254.4(TBK1):c.79A>G (p.Arg27Gly)
NM_013254.4(TBK1):c.805C>G (p.Leu269Val)
NM_013254.4(TBK1):c.812+18A>G
NM_013254.4(TBK1):c.812+7A>G
NM_013254.4(TBK1):c.812+9G>A
NM_013254.4(TBK1):c.813-3T>C rs2040770701
NM_013254.4(TBK1):c.813-7A>C rs376075252
NM_013254.4(TBK1):c.816T>G (p.Gly272=)
NM_013254.4(TBK1):c.828A>G (p.Leu276=)
NM_013254.4(TBK1):c.82_83delinsTT (p.His28Phe) rs2136052800
NM_013254.4(TBK1):c.864T>C (p.Asp288=)
NM_013254.4(TBK1):c.86dup (p.Lys30fs) rs1592350883
NM_013254.4(TBK1):c.87+17C>T
NM_013254.4(TBK1):c.87G>A (p.Lys29=) rs1592350887
NM_013254.4(TBK1):c.87G>T (p.Lys29Asn)
NM_013254.4(TBK1):c.88-4A>G
NM_013254.4(TBK1):c.880G>A (p.Gly294Ser)
NM_013254.4(TBK1):c.889C>T (p.Gln297Ter)
NM_013254.4(TBK1):c.905C>G (p.Thr302Ser)
NM_013254.4(TBK1):c.922C>T (p.Arg308Ter) rs1284582102
NM_013254.4(TBK1):c.926T>C (p.Met309Thr)
NM_013254.4(TBK1):c.935A>G (p.His312Arg)
NM_013254.4(TBK1):c.935dup (p.His312fs)
NM_013254.4(TBK1):c.944C>A (p.Ser315Ter)
NM_013254.4(TBK1):c.948A>G (p.Leu316=)
NM_013254.4(TBK1):c.94G>A (p.Gly32Ser) rs1943095779
NM_013254.4(TBK1):c.958del (p.Thr320fs) rs755950225
NM_013254.4(TBK1):c.992+13A>G
NM_013254.4(TBK1):c.992+21_992+23del rs138753162
NM_013254.4(TBK1):c.993T>C (p.Thr331=)

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