ClinVar Miner

List of variants in gene IFT80, TRIM59-IFT80 studied for Jeune thoracic dystrophy

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Gene type:
ClinVar version:
Total variants: 516
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HGVS dbSNP gnomAD frequency
NM_020800.3(IFT80):c.1756A>T (p.Thr586Ser) rs6778728 0.31629
NM_020800.3(IFT80):c.1926+13T>C rs3737214 0.17528
NM_020800.3(IFT80):c.462G>A (p.Ala154=) rs34182424 0.02371
NM_020800.3(IFT80):c.1076C>T (p.Ser359Phe) rs144099135 0.00760
NM_020800.3(IFT80):c.2139T>C (p.Asp713=) rs16831157 0.00485
NM_020800.3(IFT80):c.371-10C>A rs188321058 0.00420
NM_020800.3(IFT80):c.1076+9C>G rs139408398 0.00283
NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr) rs138161346 0.00241
NM_020800.3(IFT80):c.880G>A (p.Val294Ile) rs148926415 0.00224
NM_020800.3(IFT80):c.777+20A>G rs192387448 0.00217
NM_020800.3(IFT80):c.897G>A (p.Val299=) rs145776235 0.00156
NM_020800.3(IFT80):c.550-18T>C rs150600821 0.00128
NM_020800.2(IFT80):c.-183C>T rs545378240 0.00070
NM_020800.3(IFT80):c.1771A>G (p.Ile591Val) rs142518115 0.00051
NM_020800.3(IFT80):c.60G>A (p.Val20=) rs201088893 0.00051
NM_020800.3(IFT80):c.937A>G (p.Thr313Ala) rs146065418 0.00048
NM_020800.3(IFT80):c.721G>C (p.Gly241Arg) rs138004478 0.00043
NM_020800.3(IFT80):c.1883G>A (p.Arg628Gln) rs150370681 0.00039
NM_020800.3(IFT80):c.846T>C (p.Thr282=) rs141134950 0.00028
NM_020800.3(IFT80):c.371-19T>G rs557249203 0.00027
NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala) rs140202230 0.00023
NM_020800.3(IFT80):c.2158C>A (p.Gln720Lys) rs201820395 0.00021
NM_020800.3(IFT80):c.933A>G (p.Thr311=) rs138798955 0.00020
NM_020800.3(IFT80):c.1826G>A (p.Arg609His) rs540494495 0.00019
NM_020800.3(IFT80):c.213A>C (p.Val71=) rs560970159 0.00017
NM_020800.3(IFT80):c.2049C>T (p.Gly683=) rs367915575 0.00016
NM_020800.3(IFT80):c.634T>C (p.Tyr212His) rs756009771 0.00016
NM_020800.3(IFT80):c.640-8T>A rs770339585 0.00016
NM_020800.3(IFT80):c.912G>A (p.Glu304=) rs199575501 0.00016
NM_020800.3(IFT80):c.758G>A (p.Arg253His) rs144738877 0.00015
NM_020800.3(IFT80):c.2099+10A>G rs376944901 0.00014
NM_020800.3(IFT80):c.640-4G>A rs376056124 0.00014
NM_020800.3(IFT80):c.655G>A (p.Gly219Ser) rs201365447 0.00014
NM_020800.3(IFT80):c.807T>C (p.Thr269=) rs372419950 0.00014
NM_020800.3(IFT80):c.869A>G (p.Asn290Ser) rs138081429 0.00014
NM_020800.2(IFT80):c.-392T>G rs886058139 0.00012
NM_020800.3(IFT80):c.1204C>T (p.Arg402Cys) rs190990464 0.00011
NM_020800.3(IFT80):c.1678A>G (p.Asn560Asp) rs202145480 0.00011
NM_020800.3(IFT80):c.36G>A (p.Lys12=) rs764052178 0.00011
NM_020800.3(IFT80):c.879C>T (p.Val293=) rs143660757 0.00011
NM_020800.2(IFT80):c.-410G>T rs113776466 0.00010
NM_020800.3(IFT80):c.1350G>A (p.Pro450=) rs201146135 0.00010
NM_020800.2(IFT80):c.-376G>C rs886058138 0.00009
NM_020800.3(IFT80):c.1052C>T (p.Thr351Met) rs199778285 0.00009
NM_020800.3(IFT80):c.2289A>G (p.Gln763=) rs142438830 0.00009
NM_020800.3(IFT80):c.550-16T>C rs773225164 0.00009
NM_020800.3(IFT80):c.707C>T (p.Ala236Val) rs774857269 0.00009
NM_020800.2(IFT80):c.-243G>A rs559709322 0.00008
NM_020800.3(IFT80):c.192G>T (p.Trp64Cys) rs151263345 0.00008
NM_020800.3(IFT80):c.691C>T (p.Pro231Ser) rs149447674 0.00008
NM_020800.3(IFT80):c.804C>T (p.Asn268=) rs375407595 0.00008
NM_020800.3(IFT80):c.1664+16G>A rs371952748 0.00007
NM_020800.3(IFT80):c.2142A>T (p.Thr714=) rs751917876 0.00007
NM_020800.3(IFT80):c.2224-9C>T rs752574778 0.00007
NM_020800.3(IFT80):c.38-4A>G rs368059086 0.00007
NM_020800.3(IFT80):c.1205G>A (p.Arg402His) rs147955112 0.00006
NM_020800.3(IFT80):c.1380+15C>A rs772668269 0.00006
NM_020800.3(IFT80):c.2100G>C (p.Arg700Ser) rs373671362 0.00006
NM_020800.3(IFT80):c.381T>C (p.Asp127=) rs369785345 0.00006
NM_020800.3(IFT80):c.1076+8T>C rs778101637 0.00005
NM_020800.3(IFT80):c.1126G>C (p.Val376Leu) rs753617262 0.00005
NM_020800.3(IFT80):c.1381-6T>A rs781482459 0.00005
NM_020800.3(IFT80):c.2014A>G (p.Ile672Val) rs767128122 0.00005
NM_020800.3(IFT80):c.2099+4A>G rs754398043 0.00005
NM_020800.3(IFT80):c.2156G>A (p.Arg719His) rs551983792 0.00005
NM_020800.3(IFT80):c.2286G>A (p.Glu762=) rs774118255 0.00005
NM_020800.3(IFT80):c.468C>T (p.Gly156=) rs145679417 0.00005
NM_020800.3(IFT80):c.511A>G (p.Ile171Val) rs140163837 0.00005
NM_020800.2(IFT80):c.-296G>A rs886058136 0.00004
NM_020800.3(IFT80):c.1077-8T>C rs184413952 0.00004
NM_020800.3(IFT80):c.1104A>T (p.Ile368=) rs369114064 0.00004
NM_020800.3(IFT80):c.1151+14T>C rs549769036 0.00004
NM_020800.3(IFT80):c.1516+17A>G rs375692165 0.00004
NM_020800.3(IFT80):c.1545C>T (p.Asn515=) rs376003348 0.00004
NM_020800.3(IFT80):c.209G>A (p.Gly70Asp) rs752892324 0.00004
NM_020800.3(IFT80):c.394A>C (p.Ile132Leu) rs376849101 0.00004
NM_020800.3(IFT80):c.659G>A (p.Arg220His) rs754818191 0.00004
NM_020800.3(IFT80):c.757C>T (p.Arg253Cys) rs138656118 0.00004
NM_020800.3(IFT80):c.835A>G (p.Ile279Val) rs772283130 0.00004
NM_020800.3(IFT80):c.1229C>T (p.Pro410Leu) rs148396265 0.00003
NM_020800.3(IFT80):c.1292T>C (p.Ile431Thr) rs777754118 0.00003
NM_020800.3(IFT80):c.1386A>G (p.Glu462=) rs1039675371 0.00003
NM_020800.3(IFT80):c.1412A>G (p.Lys471Arg) rs766798264 0.00003
NM_020800.3(IFT80):c.1413A>C (p.Lys471Asn) rs891175325 0.00003
NM_020800.3(IFT80):c.2034A>T (p.Val678=) rs773068068 0.00003
NM_020800.3(IFT80):c.2101G>C (p.Ala701Pro) rs137853116 0.00003
NM_020800.3(IFT80):c.2307C>T (p.Ser769=) rs565364572 0.00003
NM_020800.3(IFT80):c.370+6T>C rs754136912 0.00003
NM_020800.3(IFT80):c.371-20A>T rs1225608232 0.00003
NM_020800.3(IFT80):c.549+16T>C rs554487138 0.00003
NM_020800.3(IFT80):c.571A>G (p.Ile191Val) rs376853807 0.00003
NM_020800.3(IFT80):c.1069G>A (p.Val357Met) rs530805244 0.00002
NM_020800.3(IFT80):c.1079C>T (p.Thr360Met) rs371152741 0.00002
NM_020800.3(IFT80):c.1315A>G (p.Ile439Val) rs750652226 0.00002
NM_020800.3(IFT80):c.1316-4del rs758421505 0.00002
NM_020800.3(IFT80):c.1320C>A (p.Ile440=) rs746090893 0.00002
NM_020800.3(IFT80):c.1381-15T>A rs753249289 0.00002
NM_020800.3(IFT80):c.1665-6del rs747849008 0.00002
NM_020800.3(IFT80):c.1910A>G (p.Tyr637Cys) rs949267903 0.00002
NM_020800.3(IFT80):c.2225T>A (p.Leu742His) rs763284318 0.00002
NM_020800.3(IFT80):c.286G>A (p.Gly96Arg) rs760332663 0.00002
NM_020800.3(IFT80):c.371T>C (p.Val124Ala) rs775678547 0.00002
NM_020800.3(IFT80):c.377A>C (p.Glu126Ala) rs574860967 0.00002
NM_020800.3(IFT80):c.938C>T (p.Thr313Met) rs753478409 0.00002
NM_020800.3(IFT80):c.954G>A (p.Met318Ile) rs957922344 0.00002
NM_020800.3(IFT80):c.1006A>G (p.Arg336Gly) rs775835775 0.00001
NM_020800.3(IFT80):c.1053G>A (p.Thr351=) rs746236656 0.00001
NM_020800.3(IFT80):c.1121G>A (p.Gly374Glu) rs1448235153 0.00001
NM_020800.3(IFT80):c.1151+15T>A rs1334712064 0.00001
NM_020800.3(IFT80):c.1151+8A>G rs759719560 0.00001
NM_020800.3(IFT80):c.1158T>A (p.Phe386Leu) rs755957651 0.00001
NM_020800.3(IFT80):c.1215A>G (p.Ser405=) rs761190913 0.00001
NM_020800.3(IFT80):c.1219C>T (p.Pro407Ser) rs1345262813 0.00001
NM_020800.3(IFT80):c.1293A>T (p.Ile431=) rs1716374776 0.00001
NM_020800.3(IFT80):c.1303G>A (p.Ala435Thr) rs747879864 0.00001
NM_020800.3(IFT80):c.1315+8T>C rs765339125 0.00001
NM_020800.3(IFT80):c.1316T>G (p.Ile439Arg) rs780934693 0.00001
NM_020800.3(IFT80):c.1326C>T (p.Leu442=) rs886058131 0.00001
NM_020800.3(IFT80):c.1341C>T (p.Thr447=) rs779074288 0.00001
NM_020800.3(IFT80):c.1342G>A (p.Gly448Arg) rs757507718 0.00001
NM_020800.3(IFT80):c.1376A>G (p.His459Arg) rs1351949409 0.00001
NM_020800.3(IFT80):c.13A>C (p.Ile5Leu) rs184680258 0.00001
NM_020800.3(IFT80):c.1499A>G (p.Glu500Gly) rs554335278 0.00001
NM_020800.3(IFT80):c.1522A>G (p.Met508Val) rs747457756 0.00001
NM_020800.3(IFT80):c.1546G>A (p.Asp516Asn) rs1328308378 0.00001
NM_020800.3(IFT80):c.1552T>C (p.Cys518Arg) rs1418914019 0.00001
NM_020800.3(IFT80):c.1554C>T (p.Cys518=) rs1163987189 0.00001
NM_020800.3(IFT80):c.1560C>T (p.Ile520=) rs572926587 0.00001
NM_020800.3(IFT80):c.156G>A (p.Lys52=) rs746919440 0.00001
NM_020800.3(IFT80):c.1607A>G (p.Asn536Ser) rs1299756605 0.00001
NM_020800.3(IFT80):c.1610C>G (p.Thr537Arg) rs149274965 0.00001
NM_020800.3(IFT80):c.1627G>A (p.Asp543Asn) rs535870220 0.00001
NM_020800.3(IFT80):c.1628A>G (p.Asp543Gly) rs746408528 0.00001
NM_020800.3(IFT80):c.1664+15C>T rs752199749 0.00001
NM_020800.3(IFT80):c.1664+8T>C rs755731425 0.00001
NM_020800.3(IFT80):c.1665-15T>C rs749606176 0.00001
NM_020800.3(IFT80):c.1675A>G (p.Lys559Glu) rs1248669654 0.00001
NM_020800.3(IFT80):c.1715C>T (p.Thr572Ile) rs751538474 0.00001
NM_020800.3(IFT80):c.178A>G (p.Ile60Val) rs780018349 0.00001
NM_020800.3(IFT80):c.1836+5T>C rs373116334 0.00001
NM_020800.3(IFT80):c.1858C>G (p.Leu620Val) rs1037844686 0.00001
NM_020800.3(IFT80):c.1882C>T (p.Arg628Ter) rs781436346 0.00001
NM_020800.3(IFT80):c.1954A>G (p.Ile652Val) rs779103873 0.00001
NM_020800.3(IFT80):c.1962T>C (p.Asn654=) rs757868715 0.00001
NM_020800.3(IFT80):c.1997T>C (p.Leu666Pro) rs754345105 0.00001
NM_020800.3(IFT80):c.2116G>A (p.Val706Ile) rs943067730 0.00001
NM_020800.3(IFT80):c.2149G>A (p.Ala717Thr) rs370294182 0.00001
NM_020800.3(IFT80):c.2151T>A (p.Ala717=) rs749975436 0.00001
NM_020800.3(IFT80):c.2155C>T (p.Arg719Cys) rs764764460 0.00001
NM_020800.3(IFT80):c.2179G>A (p.Gly727Ser) rs977361551 0.00001
NM_020800.3(IFT80):c.2200C>T (p.Arg734Ter) rs375941259 0.00001
NM_020800.3(IFT80):c.2244A>T (p.Lys748Asn) rs769905264 0.00001
NM_020800.3(IFT80):c.2245A>G (p.Ile749Val) rs891421267 0.00001
NM_020800.3(IFT80):c.2297G>C (p.Ser766Thr) rs745522185 0.00001
NM_020800.3(IFT80):c.259+18A>G rs555123804 0.00001
NM_020800.3(IFT80):c.260-9T>G rs1366678504 0.00001
NM_020800.3(IFT80):c.269A>G (p.His90Arg) rs762134619 0.00001
NM_020800.3(IFT80):c.348T>C (p.Tyr116=) rs1223074347 0.00001
NM_020800.3(IFT80):c.352G>A (p.Gly118Arg) rs1193677073 0.00001
NM_020800.3(IFT80):c.37+20A>G rs1382715287 0.00001
NM_020800.3(IFT80):c.371-11T>C rs1339121948 0.00001
NM_020800.3(IFT80):c.371-7T>C rs773095033 0.00001
NM_020800.3(IFT80):c.38-1C>G rs779785603 0.00001
NM_020800.3(IFT80):c.440-8T>A rs367575772 0.00001
NM_020800.3(IFT80):c.461C>T (p.Ala154Val) rs899479641 0.00001
NM_020800.3(IFT80):c.517A>C (p.Lys173Gln) rs1327849611 0.00001
NM_020800.3(IFT80):c.521C>T (p.Pro174Leu) rs554727578 0.00001
NM_020800.3(IFT80):c.599A>G (p.Asn200Ser) rs1468017879 0.00001
NM_020800.3(IFT80):c.612A>G (p.Leu204=) rs1359553849 0.00001
NM_020800.3(IFT80):c.619G>A (p.Gly207Ser) rs756838676 0.00001
NM_020800.3(IFT80):c.624A>C (p.Glu208Asp) rs1278015440 0.00001
NM_020800.3(IFT80):c.639+5A>G rs527856744 0.00001
NM_020800.3(IFT80):c.658C>T (p.Arg220Cys) rs373133351 0.00001
NM_020800.3(IFT80):c.680C>T (p.Pro227Leu) rs764107423 0.00001
NM_020800.3(IFT80):c.685G>A (p.Glu229Lys) rs1721069446 0.00001
NM_020800.3(IFT80):c.743C>T (p.Ser248Leu) rs754764834 0.00001
NM_020800.3(IFT80):c.819T>C (p.Phe273=) rs1576803474 0.00001
NM_020800.3(IFT80):c.837C>T (p.Ile279=) rs750697170 0.00001
NM_020800.3(IFT80):c.939G>A (p.Thr313=) rs763666588 0.00001
NM_020800.3(IFT80):c.958-7T>C rs766913544 0.00001
NM_020800.3(IFT80):c.991C>T (p.Leu331=) rs920853278 0.00001
NC_000003.12:g.160307782_160307783insACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAACATTACGAACC
NM_020800.2(IFT80):c.-321A>G rs886058137
NM_020800.3(IFT80):c.*1210TA[8] rs150435844
NM_020800.3(IFT80):c.-31G>A rs886058135
NM_020800.3(IFT80):c.1001G>A (p.Arg334His)
NM_020800.3(IFT80):c.1009G>A (p.Val337Ile) rs1226978230
NM_020800.3(IFT80):c.1028A>T (p.Asn343Ile)
NM_020800.3(IFT80):c.1030T>C (p.Tyr344His) rs2108277043
NM_020800.3(IFT80):c.1038C>T (p.His346=)
NM_020800.3(IFT80):c.1060C>A (p.Gln354Lys)
NM_020800.3(IFT80):c.1066del (p.Tyr356fs) rs1386720978
NM_020800.3(IFT80):c.1068C>T (p.Tyr356=)
NM_020800.3(IFT80):c.1076+1G>A
NM_020800.3(IFT80):c.1076+6C>A rs1478232526
NM_020800.3(IFT80):c.1080G>A (p.Thr360=)
NM_020800.3(IFT80):c.1086C>T (p.Asn362=)
NM_020800.3(IFT80):c.1094C>T (p.Thr365Ile) rs2108271630
NM_020800.3(IFT80):c.1102A>G (p.Ile368Val)
NM_020800.3(IFT80):c.1104A>G (p.Ile368Met) rs369114064
NM_020800.3(IFT80):c.1115A>G (p.Lys372Arg) rs2108271596
NM_020800.3(IFT80):c.1126G>A (p.Val376Ile) rs753617262
NM_020800.3(IFT80):c.1129A>G (p.Ser377Gly)
NM_020800.3(IFT80):c.1140G>T (p.Leu380=)
NM_020800.3(IFT80):c.1150A>G (p.Arg384Gly)
NM_020800.3(IFT80):c.1152-13C>A
NM_020800.3(IFT80):c.1152-1G>C rs777519235
NM_020800.3(IFT80):c.1152-7T>G
NM_020800.3(IFT80):c.1167A>G (p.Val389=) rs2108267310
NM_020800.3(IFT80):c.1187del (p.Leu396fs) rs1716383227
NM_020800.3(IFT80):c.118T>A (p.Trp40Arg)
NM_020800.3(IFT80):c.1198G>A (p.Glu400Lys)
NM_020800.3(IFT80):c.1200A>G (p.Glu400=) rs2108267274
NM_020800.3(IFT80):c.1208T>G (p.Phe403Cys) rs142536602
NM_020800.3(IFT80):c.120G>A (p.Trp40Ter)
NM_020800.3(IFT80):c.1215A>C (p.Ser405=)
NM_020800.3(IFT80):c.1222A>G (p.Lys408Glu) rs776006563
NM_020800.3(IFT80):c.1224A>G (p.Lys408=) rs2108267227
NM_020800.3(IFT80):c.1229C>A (p.Pro410His) rs148396265
NM_020800.3(IFT80):c.1229C>G (p.Pro410Arg)
NM_020800.3(IFT80):c.1281T>C (p.Asp427=) rs1716376329
NM_020800.3(IFT80):c.1283C>A (p.Thr428Asn) rs770394750
NM_020800.3(IFT80):c.1285A>G (p.Ile429Val)
NM_020800.3(IFT80):c.1286T>C (p.Ile429Thr) rs2108267139
NM_020800.3(IFT80):c.1287A>G (p.Ile429Met)
NM_020800.3(IFT80):c.1288G>A (p.Ala430Thr) rs1716375276
NM_020800.3(IFT80):c.128T>G (p.Leu43Ter)
NM_020800.3(IFT80):c.1291A>G (p.Ile431Val)
NM_020800.3(IFT80):c.1295G>C (p.Arg432Thr) rs1716374436
NM_020800.3(IFT80):c.1297G>A (p.Asp433Asn) rs527756323
NM_020800.3(IFT80):c.12G>A (p.Lys4=)
NM_020800.3(IFT80):c.1315+10_1315+17dup
NM_020800.3(IFT80):c.1315+14T>C
NM_020800.3(IFT80):c.1315+17A>G rs971761468
NM_020800.3(IFT80):c.1319T>C (p.Ile440Thr)
NM_020800.3(IFT80):c.131C>A (p.Thr44Asn) rs1712527833
NM_020800.3(IFT80):c.1320C>T (p.Ile440=) rs746090893
NM_020800.3(IFT80):c.1324C>T (p.Leu442Phe) rs2108240755
NM_020800.3(IFT80):c.1339A>G (p.Thr447Ala) rs1715048069
NM_020800.3(IFT80):c.1343G>T (p.Gly448Val) rs1715047540
NM_020800.3(IFT80):c.1350G>C (p.Pro450=) rs201146135
NM_020800.3(IFT80):c.1354G>A (p.Gly452Ser) rs1424771271
NM_020800.3(IFT80):c.135T>G (p.Ser45Arg) rs762238566
NM_020800.3(IFT80):c.1380+10A>G rs1256481351
NM_020800.3(IFT80):c.1380+12T>A
NM_020800.3(IFT80):c.1380+15C>T
NM_020800.3(IFT80):c.1380+2del rs2108240653
NM_020800.3(IFT80):c.1381-14dup rs762163693
NM_020800.3(IFT80):c.1381-20A>C
NM_020800.3(IFT80):c.1381-9A>C
NM_020800.3(IFT80):c.1388del (p.Ile463fs) rs2108234807
NM_020800.3(IFT80):c.1389_1397del (p.Leu464_Ile466del) rs752515612
NM_020800.3(IFT80):c.1405G>T (p.Asp469Tyr) rs1210834952
NM_020800.3(IFT80):c.141A>G (p.Thr47=)
NM_020800.3(IFT80):c.1420A>G (p.Thr474Ala) rs750126857
NM_020800.3(IFT80):c.142A>G (p.Thr48Ala) rs2108404384
NM_020800.3(IFT80):c.1436T>A (p.Ile479Asn) rs1714767611
NM_020800.3(IFT80):c.1452A>T (p.Lys484Asn) rs1714765993
NM_020800.3(IFT80):c.1468A>G (p.Ile490Val) rs1559917807
NM_020800.3(IFT80):c.1473T>C (p.Thr491=)
NM_020800.3(IFT80):c.1483C>T (p.Arg495Ter)
NM_020800.3(IFT80):c.1484G>A (p.Arg495Gln)
NM_020800.3(IFT80):c.1486T>C (p.Phe496Leu)
NM_020800.3(IFT80):c.1495G>A (p.Glu499Lys) rs555093543
NM_020800.3(IFT80):c.1507A>G (p.Ile503Val)
NM_020800.3(IFT80):c.1512G>T (p.Lys504Asn) rs772287249
NM_020800.3(IFT80):c.1516+18C>T rs1714757221
NM_020800.3(IFT80):c.1516+2T>C
NM_020800.3(IFT80):c.1517-10T>C
NM_020800.3(IFT80):c.1517-11T>C
NM_020800.3(IFT80):c.1517-9_1517-7del rs2108231566
NM_020800.3(IFT80):c.1520C>T (p.Thr507Ile) rs2108231550
NM_020800.3(IFT80):c.1525G>A (p.Val509Met) rs758912357
NM_020800.3(IFT80):c.1525G>T (p.Val509Leu) rs758912357
NM_020800.3(IFT80):c.1549A>G (p.Thr517Ala)
NM_020800.3(IFT80):c.1550C>T (p.Thr517Ile) rs1408265295
NM_020800.3(IFT80):c.1556A>G (p.Asn519Ser) rs1714628390
NM_020800.3(IFT80):c.1561C>T (p.Leu521Phe) rs1553753582
NM_020800.3(IFT80):c.156G>C (p.Lys52Asn)
NM_020800.3(IFT80):c.1583G>A (p.Arg528Gln)
NM_020800.3(IFT80):c.1624A>G (p.Arg542Gly)
NM_020800.3(IFT80):c.1625G>A (p.Arg542Lys) rs1027265275
NM_020800.3(IFT80):c.1635G>A (p.Leu545=)
NM_020800.3(IFT80):c.1655G>C (p.Arg552Thr)
NM_020800.3(IFT80):c.1664+1G>A
NM_020800.3(IFT80):c.1665-11T>C rs2108229213
NM_020800.3(IFT80):c.1665-12T>A rs908547988
NM_020800.3(IFT80):c.1665-7del rs769406658
NM_020800.3(IFT80):c.1665-7dup rs769406658
NM_020800.3(IFT80):c.1689T>A (p.Ile563=)
NM_020800.3(IFT80):c.1694G>A (p.Ser565Asn) rs1714507782
NM_020800.3(IFT80):c.1717A>G (p.Ile573Val) rs371520687
NM_020800.3(IFT80):c.1726G>A (p.Ala576Thr) rs1714506395
NM_020800.3(IFT80):c.1738C>T (p.Leu580=) rs750185428
NM_020800.3(IFT80):c.1753A>T (p.Ile585Leu) rs864622337
NM_020800.3(IFT80):c.1755A>C (p.Ile585=)
NM_020800.3(IFT80):c.1761A>G (p.Pro587=)
NM_020800.3(IFT80):c.1775T>C (p.Leu592Pro) rs2108229016
NM_020800.3(IFT80):c.1777C>T (p.His593Tyr)
NM_020800.3(IFT80):c.1797A>G (p.Ser599=) rs2108228989
NM_020800.3(IFT80):c.1815G>A (p.Val605=)
NM_020800.3(IFT80):c.1818A>G (p.Arg606=)
NM_020800.3(IFT80):c.1836+20C>T
NM_020800.3(IFT80):c.1836+8A>G
NM_020800.3(IFT80):c.1836G>A (p.Lys612=) rs758317567
NM_020800.3(IFT80):c.1837-13T>C
NM_020800.3(IFT80):c.1837-3T>C rs1714373421
NM_020800.3(IFT80):c.1837-6_1837-2del rs780412409
NM_020800.3(IFT80):c.1837G>A (p.Glu613Lys)
NM_020800.3(IFT80):c.1845C>T (p.Thr615=)
NM_020800.3(IFT80):c.1847T>C (p.Met616Thr)
NM_020800.3(IFT80):c.1866dup (p.Met623fs)
NM_020800.3(IFT80):c.1868T>C (p.Met623Thr) rs1441644666
NM_020800.3(IFT80):c.1891A>G (p.Thr631Ala)
NM_020800.3(IFT80):c.189C>T (p.His63=)
NM_020800.3(IFT80):c.1907C>T (p.Ala636Val)
NM_020800.3(IFT80):c.1913C>G (p.Ala638Gly) rs751685555
NM_020800.3(IFT80):c.1918A>G (p.Ile640Val)
NM_020800.3(IFT80):c.1922G>C (p.Gly641Ala) rs758343586
NM_020800.3(IFT80):c.1926+11A>G rs531201934
NM_020800.3(IFT80):c.1926+11A>T
NM_020800.3(IFT80):c.1926+13_1926+14inv
NM_020800.3(IFT80):c.1926+9T>G
NM_020800.3(IFT80):c.1936G>A (p.Val646Ile)
NM_020800.3(IFT80):c.1936G>C (p.Val646Leu) rs752617502
NM_020800.3(IFT80):c.1936G>T (p.Val646Phe) rs752617502
NM_020800.3(IFT80):c.1949A>G (p.Asn650Ser)
NM_020800.3(IFT80):c.1954A>T (p.Ile652Leu)
NM_020800.3(IFT80):c.1961del (p.Asn654fs) rs779179710
NM_020800.3(IFT80):c.1961dup (p.Asn654fs)
NM_020800.3(IFT80):c.1989_1990del (p.Ile665fs)
NM_020800.3(IFT80):c.1993A>G (p.Ile665Val)
NM_020800.3(IFT80):c.2020G>A (p.Glu674Lys)
NM_020800.3(IFT80):c.2025T>G (p.Ala675=)
NM_020800.3(IFT80):c.2028A>C (p.Glu676Asp) rs1714347314
NM_020800.3(IFT80):c.2033T>G (p.Val678Gly) rs762893736
NM_020800.3(IFT80):c.2040T>A (p.Leu680=) rs2108225990
NM_020800.3(IFT80):c.2043G>A (p.Gln681=)
NM_020800.3(IFT80):c.2050C>T (p.Leu684Phe)
NM_020800.3(IFT80):c.2061A>G (p.Gln687=)
NM_020800.3(IFT80):c.206T>G (p.Leu69Trp) rs2108404301
NM_020800.3(IFT80):c.2073C>A (p.Ile691=) rs1441275758
NM_020800.3(IFT80):c.207G>A (p.Leu69=) rs2108404298
NM_020800.3(IFT80):c.2083C>G (p.Leu695Val)
NM_020800.3(IFT80):c.2085C>A (p.Leu695=)
NM_020800.3(IFT80):c.2085del (p.Tyr696fs)
NM_020800.3(IFT80):c.2086T>C (p.Tyr696His)
NM_020800.3(IFT80):c.2094G>A (p.Trp698Ter)
NM_020800.3(IFT80):c.2094G>C (p.Trp698Cys) rs1273119646
NM_020800.3(IFT80):c.2099+19A>C rs539564457
NM_020800.3(IFT80):c.2099G>A (p.Arg700Lys)
NM_020800.3(IFT80):c.2100-13T>C
NM_020800.3(IFT80):c.2100-17T>C
NM_020800.3(IFT80):c.2103A>G (p.Ala701=)
NM_020800.3(IFT80):c.2119A>T (p.Lys707Ter)
NM_020800.3(IFT80):c.2124C>G (p.Tyr708Ter)
NM_020800.3(IFT80):c.2132A>G (p.His711Arg)
NM_020800.3(IFT80):c.2138A>G (p.Asp713Gly) rs1713528985
NM_020800.3(IFT80):c.2174C>T (p.Thr725Ile) rs997566753
NM_020800.3(IFT80):c.2215G>A (p.Ala739Thr) rs2108209837
NM_020800.3(IFT80):c.2223+11C>G
NM_020800.3(IFT80):c.2223+15A>G
NM_020800.3(IFT80):c.2223+20G>A rs115849906
NM_020800.3(IFT80):c.2223+4_2223+7del rs751433239
NM_020800.3(IFT80):c.2224-10del rs58665245
NM_020800.3(IFT80):c.2224-10dup rs58665245
NM_020800.3(IFT80):c.2224-13_2224-10del rs58665245
NM_020800.3(IFT80):c.2224-18T>C rs1300785034
NM_020800.3(IFT80):c.2224-19_2224-18dup rs58665245
NM_020800.3(IFT80):c.2224-20_2224-17del
NM_020800.3(IFT80):c.2224-20dup rs397969922
NM_020800.3(IFT80):c.2224-7A>G
NM_020800.3(IFT80):c.2229A>G (p.Gln743=)
NM_020800.3(IFT80):c.2244A>G (p.Lys748=) rs769905264
NM_020800.3(IFT80):c.225_226insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAACAAACC (p.Gln76fs) rs2108404264
NM_020800.3(IFT80):c.2282G>C (p.Arg761Thr) rs112640410
NM_020800.3(IFT80):c.2292A>G (p.Ser764=) rs376683399
NM_020800.3(IFT80):c.2302C>T (p.Gln768Ter) rs778690591
NM_020800.3(IFT80):c.230C>A (p.Ala77Glu) rs866504439
NM_020800.3(IFT80):c.2318T>C (p.Ile773Thr)
NM_020800.3(IFT80):c.2322T>C (p.Gly774=)
NM_020800.3(IFT80):c.2329C>T (p.Pro777Ser)
NM_020800.3(IFT80):c.239_250delinsGGGTTT (p.Phe80_Ser84delinsTrpValCys) rs1712517309
NM_020800.3(IFT80):c.24A>G (p.Leu8=)
NM_020800.3(IFT80):c.259+16_259+18del rs2108404186
NM_020800.3(IFT80):c.260-14G>A
NM_020800.3(IFT80):c.260-4T>G
NM_020800.3(IFT80):c.260-8T>G
NM_020800.3(IFT80):c.266T>C (p.Phe89Ser) rs965701938
NM_020800.3(IFT80):c.282G>A (p.Lys94=) rs548358266
NM_020800.3(IFT80):c.28G>T (p.Glu10Ter)
NM_020800.3(IFT80):c.301A>G (p.Ser101Gly)
NM_020800.3(IFT80):c.304G>A (p.Val102Ile)
NM_020800.3(IFT80):c.317G>C (p.Cys106Ser)
NM_020800.3(IFT80):c.331G>A (p.Ala111Thr) rs1712114570
NM_020800.3(IFT80):c.332C>T (p.Ala111Val) rs557375681
NM_020800.3(IFT80):c.335G>A (p.Gly112Glu) rs1712113940
NM_020800.3(IFT80):c.351A>G (p.Glu117=) rs2108396942
NM_020800.3(IFT80):c.360A>G (p.Ala120=) rs2108396922
NM_020800.3(IFT80):c.37+15C>T rs1483835849
NM_020800.3(IFT80):c.37+16T>A
NM_020800.3(IFT80):c.37+6C>A rs865963221
NM_020800.3(IFT80):c.370+20G>A
NM_020800.3(IFT80):c.371-11del rs34613811
NM_020800.3(IFT80):c.371-11dup
NM_020800.3(IFT80):c.379G>T (p.Asp127Tyr) rs1711973722
NM_020800.3(IFT80):c.37C>G (p.His13Asp)
NM_020800.3(IFT80):c.38-17C>T
NM_020800.3(IFT80):c.38-9dup
NM_020800.3(IFT80):c.387A>G (p.Gln129=)
NM_020800.3(IFT80):c.396T>C (p.Ile132=)
NM_020800.3(IFT80):c.403A>C (p.Lys135Gln)
NM_020800.3(IFT80):c.411dup (p.Met138fs) rs778324141
NM_020800.3(IFT80):c.437A>G (p.Gln146Arg) rs2108394316
NM_020800.3(IFT80):c.439+12A>C
NM_020800.3(IFT80):c.439+14T>C
NM_020800.3(IFT80):c.440-17C>A
NM_020800.3(IFT80):c.440-18T>A
NM_020800.3(IFT80):c.440-18T>C
NM_020800.3(IFT80):c.440-18del rs199675485
NM_020800.3(IFT80):c.440-22_440-18del
NM_020800.3(IFT80):c.440-27dup rs199675485
NM_020800.3(IFT80):c.440-2A>G rs1721846338
NM_020800.3(IFT80):c.440-4A>G
NM_020800.3(IFT80):c.447A>G (p.Pro149=) rs2108377944
NM_020800.3(IFT80):c.448G>C (p.Val150Leu) rs1721845305
NM_020800.3(IFT80):c.462G>C (p.Ala154=) rs34182424
NM_020800.3(IFT80):c.464G>A (p.Trp155Ter)
NM_020800.3(IFT80):c.469C>A (p.Pro157Thr) rs1721843816
NM_020800.3(IFT80):c.483G>A (p.Lys161=) rs886058133
NM_020800.3(IFT80):c.48A>T (p.Leu16Phe) rs2108404512
NM_020800.3(IFT80):c.514A>G (p.Ile172Val) rs2108377832
NM_020800.3(IFT80):c.515T>A (p.Ile172Asn) rs1215757424
NM_020800.3(IFT80):c.546G>A (p.Leu182=) rs543233802
NM_020800.3(IFT80):c.548A>T (p.Gln183Leu)
NM_020800.3(IFT80):c.549+7C>G
NM_020800.3(IFT80):c.550-14_550-12del
NM_020800.3(IFT80):c.550-18del
NM_020800.3(IFT80):c.550-4A>T rs769891425
NM_020800.3(IFT80):c.551G>A (p.Trp184Ter) rs1182330004
NM_020800.3(IFT80):c.559C>T (p.His187Tyr)
NM_020800.3(IFT80):c.572T>A (p.Ile191Asn) rs372576954
NM_020800.3(IFT80):c.593C>T (p.Ser198Leu)
NM_020800.3(IFT80):c.601G>T (p.Asp201Tyr)
NM_020800.3(IFT80):c.60G>T (p.Val20=) rs201088893
NM_020800.3(IFT80):c.612A>T (p.Leu204Phe) rs1359553849
NM_020800.3(IFT80):c.625G>T (p.Asp209Tyr) rs2108362446
NM_020800.3(IFT80):c.627C>A (p.Asp209Glu)
NM_020800.3(IFT80):c.629_630del (p.Asp209_Cys210insTer) rs1307708371
NM_020800.3(IFT80):c.639+10G>A rs1027164775
NM_020800.3(IFT80):c.639+18T>C
NM_020800.3(IFT80):c.639+1del rs2108362424
NM_020800.3(IFT80):c.639+9T>A
NM_020800.3(IFT80):c.639+9T>C rs968428120
NM_020800.3(IFT80):c.640-11T>C
NM_020800.3(IFT80):c.640-3T>G rs1270725764
NM_020800.3(IFT80):c.640G>A (p.Val214Ile) rs1026071746
NM_020800.3(IFT80):c.64T>C (p.Trp22Arg) rs140499147
NM_020800.3(IFT80):c.650G>A (p.Ser217Asn)
NM_020800.3(IFT80):c.654C>T (p.Tyr218=)
NM_020800.3(IFT80):c.657C>T (p.Gly219=) rs1195919168
NM_020800.3(IFT80):c.663A>G (p.Pro221=)
NM_020800.3(IFT80):c.686A>C (p.Glu229Ala) rs1305518301
NM_020800.3(IFT80):c.698C>A (p.Thr233Asn) rs1242544327
NM_020800.3(IFT80):c.701C>G (p.Ser234Ter)
NM_020800.3(IFT80):c.710G>A (p.Trp237Ter) rs201858128
NM_020800.3(IFT80):c.719A>C (p.Asp240Ala)
NM_020800.3(IFT80):c.727T>C (p.Leu243=) rs2108360164
NM_020800.3(IFT80):c.736G>C (p.Val246Leu)
NM_020800.3(IFT80):c.743C>G (p.Ser248Trp) rs754764834
NM_020800.3(IFT80):c.744G>A (p.Ser248=) rs779731718
NM_020800.3(IFT80):c.744G>T (p.Ser248=)
NM_020800.3(IFT80):c.748C>T (p.His250Tyr) rs1721060438
NM_020800.3(IFT80):c.749A>T (p.His250Leu)
NM_020800.3(IFT80):c.751A>T (p.Thr251Ser) rs2108360118
NM_020800.3(IFT80):c.759C>T (p.Arg253=) rs2108360089
NM_020800.3(IFT80):c.760T>G (p.Leu254Val)
NM_020800.3(IFT80):c.763T>C (p.Cys255Arg) rs2108360083
NM_020800.3(IFT80):c.764G>T (p.Cys255Phe) rs1325257224
NM_020800.3(IFT80):c.769A>G (p.Lys257Glu) rs1273801158
NM_020800.3(IFT80):c.777+16G>A rs1462707815
NM_020800.3(IFT80):c.777+19C>T
NM_020800.3(IFT80):c.777+5G>A rs2108360069
NM_020800.3(IFT80):c.778-16G>T
NM_020800.3(IFT80):c.778-17T>G
NM_020800.3(IFT80):c.778-4C>T rs760577994
NM_020800.3(IFT80):c.778-7C>T rs1269497069
NM_020800.3(IFT80):c.810C>A (p.Gly270=) rs752091335
NM_020800.3(IFT80):c.824T>C (p.Ile275Thr)
NM_020800.3(IFT80):c.825T>G (p.Ile275Met)
NM_020800.3(IFT80):c.847C>T (p.Gln283Ter)
NM_020800.3(IFT80):c.855T>C (p.Ala285=)
NM_020800.3(IFT80):c.869dup (p.Asn290fs) rs773858865
NM_020800.3(IFT80):c.873A>G (p.Gly291=)
NM_020800.3(IFT80):c.895G>A (p.Val299Met) rs1718074496
NM_020800.3(IFT80):c.896T>C (p.Val299Ala)
NM_020800.3(IFT80):c.898_899del (p.Glu300fs) rs1450731316
NM_020800.3(IFT80):c.92G>A (p.Cys31Tyr) rs2108404468
NM_020800.3(IFT80):c.930A>G (p.Val310=)
NM_020800.3(IFT80):c.949G>A (p.Ala317Thr)
NM_020800.3(IFT80):c.950C>A (p.Ala317Asp) rs1718070568
NM_020800.3(IFT80):c.951C>T (p.Ala317=)
NM_020800.3(IFT80):c.951del (p.Met318fs)
NM_020800.3(IFT80):c.952A>T (p.Met318Leu) rs1718070417
NM_020800.3(IFT80):c.956A>G (p.Gln319Arg) rs1718070086
NM_020800.3(IFT80):c.957+17A>T
NM_020800.3(IFT80):c.957+1G>A
NM_020800.3(IFT80):c.957+20T>C
NM_020800.3(IFT80):c.957+8T>C
NM_020800.3(IFT80):c.958-15T>C
NM_020800.3(IFT80):c.958-1G>T rs202051267
NM_020800.3(IFT80):c.958-8T>A
NM_020800.3(IFT80):c.958-8T>C rs752430715
NM_020800.3(IFT80):c.962G>A (p.Arg321His) rs766354291
NM_020800.3(IFT80):c.972_973insNNNNNNNNTTTTTTTT (p.Asn325delinsXaaXaaXaaPhePheTer) rs2108277143
NM_020800.3(IFT80):c.999C>T (p.Phe333=) rs765112290

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