NM_020800.3(IFT80):c.371-10C>A
|
rs188321058
|
0.00420
|
NM_020800.3(IFT80):c.*1089T>C
|
rs181651029
|
0.00377
|
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.897G>A (p.Val299=)
|
rs145776235
|
0.00156
|
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.2158C>A (p.Gln720Lys)
|
rs201820395
|
0.00021
|
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.640-8T>A
|
rs770339585
|
0.00016
|
NM_020800.3(IFT80):c.912G>A (p.Glu304=)
|
rs199575501
|
0.00016
|
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.807T>C (p.Thr269=)
|
rs372419950
|
0.00014
|
NM_020800.3(IFT80):c.1678A>G (p.Asn560Asp)
|
rs202145480
|
0.00011
|
NM_020800.3(IFT80):c.1350G>A (p.Pro450=)
|
rs201146135
|
0.00010
|
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.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.1380+15C>A
|
rs772668269
|
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.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.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.1386A>G (p.Glu462=)
|
rs1039675371
|
0.00003
|
NM_020800.3(IFT80):c.2034A>T (p.Val678=)
|
rs773068068
|
0.00003
|
NM_020800.3(IFT80):c.2307C>T (p.Ser769=)
|
rs565364572
|
0.00003
|
NM_020800.3(IFT80):c.371-20A>T
|
rs1225608232
|
0.00003
|
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.1053G>A (p.Thr351=)
|
rs746236656
|
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.1215A>G (p.Ser405=)
|
rs761190913
|
0.00001
|
NM_020800.3(IFT80):c.1293A>T (p.Ile431=)
|
rs1716374776
|
0.00001
|
NM_020800.3(IFT80):c.1315+8T>C
|
rs765339125
|
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.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.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.1962T>C (p.Asn654=)
|
rs757868715
|
0.00001
|
NM_020800.3(IFT80):c.2151T>A (p.Ala717=)
|
rs749975436
|
0.00001
|
NM_020800.3(IFT80):c.260-9T>G
|
rs1366678504
|
0.00001
|
NM_020800.3(IFT80):c.348T>C (p.Tyr116=)
|
rs1223074347
|
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.440-12T>G
|
rs748442129
|
0.00001
|
NM_020800.3(IFT80):c.440-8T>A
|
rs367575772
|
0.00001
|
NM_020800.3(IFT80):c.612A>G (p.Leu204=)
|
rs1359553849
|
0.00001
|
NM_020800.3(IFT80):c.639+5A>G
|
rs527856744
|
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
|
NM_020800.3(IFT80):c.1038C>T (p.His346=)
|
|
|
NM_020800.3(IFT80):c.1068C>T (p.Tyr356=)
|
|
|
NM_020800.3(IFT80):c.1080G>A (p.Thr360=)
|
|
|
NM_020800.3(IFT80):c.1086C>T (p.Asn362=)
|
|
|
NM_020800.3(IFT80):c.1140G>T (p.Leu380=)
|
|
|
NM_020800.3(IFT80):c.1152-13C>A
|
|
|
NM_020800.3(IFT80):c.1152-7T>G
|
|
|
NM_020800.3(IFT80):c.1167A>G (p.Val389=)
|
rs2108267310
|
|
NM_020800.3(IFT80):c.1200A>G (p.Glu400=)
|
rs2108267274
|
|
NM_020800.3(IFT80):c.1215A>C (p.Ser405=)
|
|
|
NM_020800.3(IFT80):c.1224A>G (p.Lys408=)
|
rs2108267227
|
|
NM_020800.3(IFT80):c.1281T>C (p.Asp427=)
|
rs1716376329
|
|
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.1320C>T (p.Ile440=)
|
rs746090893
|
|
NM_020800.3(IFT80):c.1326C>G (p.Leu442=)
|
rs886058131
|
|
NM_020800.3(IFT80):c.1350G>C (p.Pro450=)
|
rs201146135
|
|
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.1381-20A>C
|
|
|
NM_020800.3(IFT80):c.1381-9A>C
|
|
|
NM_020800.3(IFT80):c.141A>G (p.Thr47=)
|
|
|
NM_020800.3(IFT80):c.1473T>C (p.Thr491=)
|
|
|
NM_020800.3(IFT80):c.1516+18C>T
|
rs1714757221
|
|
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.1635G>A (p.Leu545=)
|
|
|
NM_020800.3(IFT80):c.1665-11T>C
|
rs2108229213
|
|
NM_020800.3(IFT80):c.1665-12T>A
|
rs908547988
|
|
NM_020800.3(IFT80):c.1689T>A (p.Ile563=)
|
|
|
NM_020800.3(IFT80):c.1738C>T (p.Leu580=)
|
rs750185428
|
|
NM_020800.3(IFT80):c.1761A>G (p.Pro587=)
|
|
|
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.1837-13T>C
|
|
|
NM_020800.3(IFT80):c.1837-6_1837-2del
|
rs780412409
|
|
NM_020800.3(IFT80):c.1845C>T (p.Thr615=)
|
|
|
NM_020800.3(IFT80):c.189C>T (p.His63=)
|
|
|
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.2025T>G (p.Ala675=)
|
|
|
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.2073C>A (p.Ile691=)
|
rs1441275758
|
|
NM_020800.3(IFT80):c.2085C>A (p.Leu695=)
|
|
|
NM_020800.3(IFT80):c.2099+19A>C
|
rs539564457
|
|
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.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.2224-10del
|
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.2224-20_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.2292A>G (p.Ser764=)
|
rs376683399
|
|
NM_020800.3(IFT80):c.2322T>C (p.Gly774=)
|
|
|
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.282G>A (p.Lys94=)
|
rs548358266
|
|
NM_020800.3(IFT80):c.332C>T (p.Ala111Val)
|
rs557375681
|
|
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.370+20G>A
|
|
|
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.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>C
|
|
|
NM_020800.3(IFT80):c.440-22_440-18del
|
|
|
NM_020800.3(IFT80):c.440-4A>G
|
|
|
NM_020800.3(IFT80):c.447A>G (p.Pro149=)
|
rs2108377944
|
|
NM_020800.3(IFT80):c.462G>C (p.Ala154=)
|
rs34182424
|
|
NM_020800.3(IFT80):c.483G>A (p.Lys161=)
|
rs886058133
|
|
NM_020800.3(IFT80):c.546G>A (p.Leu182=)
|
rs543233802
|
|
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.60G>T (p.Val20=)
|
rs201088893
|
|
NM_020800.3(IFT80):c.639+10G>A
|
rs1027164775
|
|
NM_020800.3(IFT80):c.639+18T>C
|
|
|
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.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.727T>C (p.Leu243=)
|
rs2108360164
|
|
NM_020800.3(IFT80):c.744G>A (p.Ser248=)
|
rs779731718
|
|
NM_020800.3(IFT80):c.744G>T (p.Ser248=)
|
|
|
NM_020800.3(IFT80):c.759C>T (p.Arg253=)
|
rs2108360089
|
|
NM_020800.3(IFT80):c.777+16G>A
|
rs1462707815
|
|
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.855T>C (p.Ala285=)
|
|
|
NM_020800.3(IFT80):c.873A>G (p.Gly291=)
|
|
|
NM_020800.3(IFT80):c.930A>G (p.Val310=)
|
|
|
NM_020800.3(IFT80):c.951C>T (p.Ala317=)
|
|
|
NM_020800.3(IFT80):c.957+17A>T
|
|
|
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.958-8T>A
|
|
|
NM_020800.3(IFT80):c.999C>T (p.Phe333=)
|
rs765112290
|
|