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=)
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|
|
NM_020800.3(IFT80):c.396T>C (p.Ile132=)
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|
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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
|
|
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NM_020800.3(IFT80):c.440-17C>A
|
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NM_020800.3(IFT80):c.440-18T>A
|
|
|
NM_020800.3(IFT80):c.440-18T>C
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|
|
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
|
|