ClinVar Miner

List of variants in gene IFT140, LOC105371046 studied for bone disorder

Included ClinVar conditions (1436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 603
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HGVS dbSNP gnomAD frequency
NM_014714.4(IFT140):c.-17G>C rs1894649 0.44364
NM_014714.4(IFT140):c.148-22A>T rs2236269 0.43860
NM_014714.4(IFT140):c.-31-52T>A rs743963 0.36773
NM_014714.4(IFT140):c.147+109G>A rs7192480 0.23834
NM_014714.4(IFT140):c.635-12G>C rs12447357 0.18304
NM_014714.4(IFT140):c.1192G>A (p.Val398Ile) rs34762152 0.08326
NM_014714.4(IFT140):c.1352C>T (p.Ala451Val) rs8060532 0.02699
NM_014714.4(IFT140):c.492-14G>A rs75359189 0.02244
NM_014714.4(IFT140):c.839G>A (p.Arg280Gln) rs35404373 0.02054
NM_014714.4(IFT140):c.838C>T (p.Arg280Trp) rs8058674 0.01985
NM_014714.4(IFT140):c.322G>A (p.Val108Met) rs146128830 0.00695
NM_014714.4(IFT140):c.1524+3A>G rs149791451 0.00552
NM_014714.4(IFT140):c.492-20C>T rs149012740 0.00267
NM_014714.4(IFT140):c.1524+14C>G rs369481491 0.00241
NM_014714.4(IFT140):c.1336A>G (p.Ile446Val) rs139619013 0.00194
NM_014714.4(IFT140):c.1359+12G>C rs150859038 0.00122
NM_014714.4(IFT140):c.546C>T (p.Asp182=) rs150014480 0.00115
NM_014714.4(IFT140):c.-4C>T rs140403660 0.00112
NM_014714.4(IFT140):c.1083C>T (p.Pro361=) rs143014223 0.00103
NM_014714.4(IFT140):c.758G>A (p.Arg253Gln) rs141993139 0.00081
NM_014714.4(IFT140):c.1084G>A (p.Gly362Arg) rs182052267 0.00061
NM_014714.4(IFT140):c.491+7G>A rs187521755 0.00045
NM_014714.4(IFT140):c.1359+20G>A rs374488263 0.00035
NM_014714.4(IFT140):c.369+12C>T rs192986766 0.00034
NM_014714.4(IFT140):c.1360-14G>A rs369246649 0.00032
NM_014714.4(IFT140):c.925G>A (p.Glu309Lys) rs141993646 0.00027
NM_014714.4(IFT140):c.1331T>C (p.Met444Thr) rs148663745 0.00024
NM_014714.4(IFT140):c.179G>A (p.Arg60Lys) rs148093208 0.00022
NM_014714.4(IFT140):c.410G>A (p.Arg137Gln) rs145718272 0.00021
NM_014714.4(IFT140):c.1230G>A (p.Ser410=) rs199840711 0.00020
NM_014714.4(IFT140):c.1417G>A (p.Ala473Thr) rs149642543 0.00019
NM_014714.4(IFT140):c.561G>T (p.Lys187Asn) rs139286030 0.00019
NM_014714.4(IFT140):c.1524+8G>A rs369331038 0.00015
NM_014714.4(IFT140):c.1272G>A (p.Pro424=) rs370562505 0.00014
NM_014714.4(IFT140):c.1422A>G (p.Ile474Met) rs559293157 0.00014
NM_014714.4(IFT140):c.22C>G (p.Gln8Glu) rs145267929 0.00014
NM_014714.4(IFT140):c.1220G>A (p.Arg407Gln) rs151198844 0.00013
NM_014714.4(IFT140):c.194C>T (p.Ala65Val) rs142257947 0.00013
NM_014714.4(IFT140):c.128T>C (p.Val43Ala) rs372148301 0.00011
NM_014714.4(IFT140):c.1364C>T (p.Ala455Val) rs201949058 0.00011
NM_014714.4(IFT140):c.634+6G>C rs368229365 0.00011
NM_014714.4(IFT140):c.1010-19A>G rs369000362 0.00010
NM_014714.4(IFT140):c.1146G>A (p.Thr382=) rs200975046 0.00010
NM_014714.4(IFT140):c.768G>A (p.Leu256=) rs775181670 0.00010
NM_014714.4(IFT140):c.823G>A (p.Gly275Arg) rs146163533 0.00010
NM_014714.4(IFT140):c.633C>T (p.Asp211=) rs201319525 0.00009
NM_014714.4(IFT140):c.201G>T (p.Leu67=) rs138991209 0.00008
NM_014714.4(IFT140):c.210C>T (p.His70=) rs145160997 0.00008
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361 0.00008
NM_014714.4(IFT140):c.1010-10C>T rs376722338 0.00007
NM_014714.4(IFT140):c.1428T>A (p.Ser476Arg) rs771030841 0.00007
NM_014714.4(IFT140):c.1504G>A (p.Val502Ile) rs183261797 0.00007
NM_014714.4(IFT140):c.600C>T (p.His200=) rs371783984 0.00007
NM_014714.4(IFT140):c.1010-1G>A rs770185023 0.00006
NM_014714.4(IFT140):c.1021G>A (p.Ala341Thr) rs200292484 0.00006
NM_014714.4(IFT140):c.1040G>A (p.Arg347Gln) rs147556035 0.00006
NM_014714.4(IFT140):c.1160G>A (p.Gly387Asp) rs781160807 0.00006
NM_014714.4(IFT140):c.1327G>A (p.Asp443Asn) rs538562131 0.00006
NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter) rs140039128 0.00006
NM_014714.4(IFT140):c.1401C>T (p.Phe467=) rs368477699 0.00006
NM_014714.4(IFT140):c.337C>T (p.Pro113Ser) rs756324852 0.00006
NM_014714.4(IFT140):c.778C>T (p.Pro260Ser) rs369671309 0.00006
NM_014714.4(IFT140):c.902+87T>C rs560111717 0.00006
NM_014714.4(IFT140):c.903-17G>T rs377542255 0.00006
NM_014714.4(IFT140):c.920G>A (p.Arg307Gln) rs780666037 0.00006
NM_014714.4(IFT140):c.1169A>G (p.Lys390Arg) rs369998823 0.00005
NM_014714.4(IFT140):c.1200C>T (p.Ser400=) rs778020037 0.00005
NM_014714.4(IFT140):c.1304G>A (p.Gly435Glu) rs201033016 0.00005
NM_014714.4(IFT140):c.1498A>G (p.Asn500Asp) rs763326520 0.00005
NM_014714.4(IFT140):c.1520G>T (p.Trp507Leu) rs755959856 0.00005
NM_014714.4(IFT140):c.290C>T (p.Thr97Met) rs199532257 0.00005
NM_014714.4(IFT140):c.298C>G (p.Leu100Val) rs546498421 0.00005
NM_014714.4(IFT140):c.329G>A (p.Arg110His) rs371077545 0.00005
NM_014714.4(IFT140):c.594G>A (p.Gly198=) rs754896534 0.00005
NM_014714.4(IFT140):c.695C>T (p.Thr232Met) rs373258796 0.00005
NM_014714.4(IFT140):c.811-16T>C rs367948949 0.00005
NM_014714.4(IFT140):c.832G>A (p.Gly278Ser) rs141986611 0.00005
NM_014714.4(IFT140):c.1030G>A (p.Asp344Asn) rs201871050 0.00004
NM_014714.4(IFT140):c.1255G>A (p.Ala419Thr) rs769337607 0.00004
NM_014714.4(IFT140):c.1309G>A (p.Ala437Thr) rs373106880 0.00004
NM_014714.4(IFT140):c.1509A>G (p.Gln503=) rs139385840 0.00004
NM_014714.4(IFT140):c.174C>T (p.Val58=) rs769612994 0.00004
NM_014714.4(IFT140):c.183G>A (p.Pro61=) rs751515057 0.00004
NM_014714.4(IFT140):c.526G>A (p.Gly176Ser) rs201849591 0.00004
NM_014714.4(IFT140):c.593G>C (p.Gly198Ala) rs983329531 0.00004
NM_014714.4(IFT140):c.628A>G (p.Met210Val) rs749432087 0.00004
NM_014714.4(IFT140):c.708G>A (p.Leu236=) rs200076064 0.00004
NM_014714.4(IFT140):c.811-10C>T rs781747985 0.00004
NM_014714.4(IFT140):c.903-5T>G rs900599017 0.00004
NM_014714.4(IFT140):c.1020C>T (p.Ala340=) rs777539406 0.00003
NM_014714.4(IFT140):c.1126G>A (p.Glu376Lys) rs200349591 0.00003
NM_014714.4(IFT140):c.1145C>T (p.Thr382Met) rs780000949 0.00003
NM_014714.4(IFT140):c.1252G>C (p.Ala418Pro) rs770890983 0.00003
NM_014714.4(IFT140):c.1271C>T (p.Pro424Leu) rs780657545 0.00003
NM_014714.4(IFT140):c.1306G>T (p.Val436Phe) rs764912104 0.00003
NM_014714.4(IFT140):c.1310C>T (p.Ala437Val) rs199881467 0.00003
NM_014714.4(IFT140):c.1330A>G (p.Met444Val) rs749322722 0.00003
NM_014714.4(IFT140):c.1359+9C>T rs371341236 0.00003
NM_014714.4(IFT140):c.1432+18G>A rs374262499 0.00003
NM_014714.4(IFT140):c.1479C>T (p.Asn493=) rs373191298 0.00003
NM_014714.4(IFT140):c.1487C>T (p.Thr496Met) rs764537319 0.00003
NM_014714.4(IFT140):c.1513C>T (p.Arg505Ter) rs1257804746 0.00003
NM_014714.4(IFT140):c.189G>A (p.Arg63=) rs759832443 0.00003
NM_014714.4(IFT140):c.215C>T (p.Thr72Met) rs774892063 0.00003
NM_014714.4(IFT140):c.291G>A (p.Thr97=) rs774795976 0.00003
NM_014714.4(IFT140):c.35C>T (p.Pro12Leu) rs542803163 0.00003
NM_014714.4(IFT140):c.369+15G>A rs751266892 0.00003
NM_014714.4(IFT140):c.37G>T (p.Asp13Tyr) rs554065722 0.00003
NM_014714.4(IFT140):c.438C>T (p.His146=) rs564988341 0.00003
NM_014714.4(IFT140):c.508G>A (p.Ala170Thr) rs145551546 0.00003
NM_014714.4(IFT140):c.601G>A (p.Glu201Lys) rs367721062 0.00003
NM_014714.4(IFT140):c.634+12T>C rs747805287 0.00003
NM_014714.4(IFT140):c.657G>A (p.Glu219=) rs757028149 0.00003
NM_014714.4(IFT140):c.676G>T (p.Val226Leu) rs763180833 0.00003
NM_014714.4(IFT140):c.684C>T (p.Ser228=) rs765361599 0.00003
NM_014714.4(IFT140):c.696G>A (p.Thr232=) rs144087201 0.00003
NM_014714.4(IFT140):c.69G>T (p.Trp23Cys) rs139141440 0.00003
NM_014714.4(IFT140):c.76G>C (p.Val26Leu) rs1295600196 0.00003
NM_014714.4(IFT140):c.886G>A (p.Gly296Arg) rs574450870 0.00003
NM_014714.4(IFT140):c.1115A>G (p.Gln372Arg) rs1555491988 0.00002
NM_014714.4(IFT140):c.1147C>T (p.Gln383Ter) rs1206753537 0.00002
NM_014714.4(IFT140):c.1155+15G>A rs764275810 0.00002
NM_014714.4(IFT140):c.1242C>G (p.His414Gln) rs142143011 0.00002
NM_014714.4(IFT140):c.126C>T (p.Ser42=) rs753351192 0.00002
NM_014714.4(IFT140):c.127G>A (p.Val43Met) rs150649451 0.00002
NM_014714.4(IFT140):c.1299C>T (p.Ser433=) rs377217453 0.00002
NM_014714.4(IFT140):c.1322G>A (p.Arg441His) rs776567773 0.00002
NM_014714.4(IFT140):c.1359+10G>A rs765870382 0.00002
NM_014714.4(IFT140):c.1359+15G>A rs371515559 0.00002
NM_014714.4(IFT140):c.1359+17C>T rs767520111 0.00002
NM_014714.4(IFT140):c.1368C>T (p.Val456=) rs561657958 0.00002
NM_014714.4(IFT140):c.1424G>A (p.Arg475Gln) rs776789813 0.00002
NM_014714.4(IFT140):c.1452G>A (p.Thr484=) rs914258252 0.00002
NM_014714.4(IFT140):c.1524+19G>A rs375207885 0.00002
NM_014714.4(IFT140):c.156C>T (p.Cys52=) rs759512538 0.00002
NM_014714.4(IFT140):c.212C>T (p.Pro71Leu) rs772757427 0.00002
NM_014714.4(IFT140):c.213G>A (p.Pro71=) rs762239414 0.00002
NM_014714.4(IFT140):c.302C>T (p.Thr101Ile) rs1410736613 0.00002
NM_014714.4(IFT140):c.312C>T (p.Ala104=) rs138263672 0.00002
NM_014714.4(IFT140):c.313G>A (p.Asp105Asn) rs376057883 0.00002
NM_014714.4(IFT140):c.357G>C (p.Leu119=) rs2035838651 0.00002
NM_014714.4(IFT140):c.369+13G>A rs775756737 0.00002
NM_014714.4(IFT140):c.369+14C>T rs766013600 0.00002
NM_014714.4(IFT140):c.423G>A (p.Thr141=) rs769704872 0.00002
NM_014714.4(IFT140):c.490G>A (p.Glu164Lys) rs559314300 0.00002
NM_014714.4(IFT140):c.56C>T (p.Ser19Leu) rs766380874 0.00002
NM_014714.4(IFT140):c.70C>T (p.His24Tyr) rs939722027 0.00002
NM_014714.4(IFT140):c.773C>T (p.Thr258Met) rs140020318 0.00002
NM_014714.4(IFT140):c.811-7C>T rs751897595 0.00002
NM_014714.4(IFT140):c.819G>A (p.Leu273=) rs763445046 0.00002
NM_014714.4(IFT140):c.822C>T (p.Ser274=) rs200604057 0.00002
NM_014714.4(IFT140):c.882C>T (p.Ala294=) rs768675467 0.00002
NM_014714.4(IFT140):c.902+3G>A rs776981733 0.00002
NM_014714.4(IFT140):c.998G>A (p.Cys333Tyr) rs773372123 0.00002
NM_014714.4(IFT140):c.-6T>A rs886051771 0.00001
NM_014714.4(IFT140):c.1009+11C>T rs761927308 0.00001
NM_014714.4(IFT140):c.1009+17T>G rs376818587 0.00001
NM_014714.4(IFT140):c.1009+19G>A rs1193125251 0.00001
NM_014714.4(IFT140):c.1009+1G>T rs1221367358 0.00001
NM_014714.4(IFT140):c.1029C>T (p.Thr343=) rs556379159 0.00001
NM_014714.4(IFT140):c.102C>T (p.Tyr34=) rs781549163 0.00001
NM_014714.4(IFT140):c.1035A>G (p.Arg345=) rs1312876643 0.00001
NM_014714.4(IFT140):c.1055G>A (p.Arg352Lys) rs755904958 0.00001
NM_014714.4(IFT140):c.1072C>T (p.Leu358=) rs2034869421 0.00001
NM_014714.4(IFT140):c.1077C>T (p.Gly359=) rs757481448 0.00001
NM_014714.4(IFT140):c.1090G>A (p.Glu364Lys) rs1279456870 0.00001
NM_014714.4(IFT140):c.1124C>T (p.Thr375Ile) rs777159234 0.00001
NM_014714.4(IFT140):c.1125C>T (p.Thr375=) rs771792178 0.00001
NM_014714.4(IFT140):c.1133A>G (p.Gln378Arg) rs1470456078 0.00001
NM_014714.4(IFT140):c.1155+1G>A rs780965515 0.00001
NM_014714.4(IFT140):c.1155+8C>T rs757107689 0.00001
NM_014714.4(IFT140):c.1156-11T>C rs1418987631 0.00001
NM_014714.4(IFT140):c.1156-18T>C rs1433160902 0.00001
NM_014714.4(IFT140):c.1156-19T>C rs557768631 0.00001
NM_014714.4(IFT140):c.1156-6A>G rs769650753 0.00001
NM_014714.4(IFT140):c.1156-8A>C rs1468612818 0.00001
NM_014714.4(IFT140):c.1187A>T (p.Asn396Ile) rs1216397912 0.00001
NM_014714.4(IFT140):c.1203G>A (p.Val401=) rs752765678 0.00001
NM_014714.4(IFT140):c.1216G>A (p.Glu406Lys) rs755177677 0.00001
NM_014714.4(IFT140):c.1219C>T (p.Arg407Trp) rs754373519 0.00001
NM_014714.4(IFT140):c.1221G>C (p.Arg407=) rs761080545 0.00001
NM_014714.4(IFT140):c.1245G>T (p.Gln415His) rs1405498103 0.00001
NM_014714.4(IFT140):c.1260G>A (p.Met420Ile) rs2034748123 0.00001
NM_014714.4(IFT140):c.1294C>T (p.Leu432=) rs1482041898 0.00001
NM_014714.4(IFT140):c.1302G>A (p.Thr434=) rs1045923210 0.00001
NM_014714.4(IFT140):c.1319T>C (p.Leu440Pro) rs1555491448 0.00001
NM_014714.4(IFT140):c.1321C>T (p.Arg441Cys) rs758986711 0.00001
NM_014714.4(IFT140):c.1326C>T (p.Thr442=) rs748014543 0.00001
NM_014714.4(IFT140):c.1338C>T (p.Ile446=) rs781745982 0.00001
NM_014714.4(IFT140):c.1339A>G (p.Ser447Gly) rs1030260747 0.00001
NM_014714.4(IFT140):c.1359+13G>A rs2034738379 0.00001
NM_014714.4(IFT140):c.1360-13T>C rs763963956 0.00001
NM_014714.4(IFT140):c.1361A>G (p.Asp454Gly) rs376263938 0.00001
NM_014714.4(IFT140):c.1362T>C (p.Asp454=) rs2034683877 0.00001
NM_014714.4(IFT140):c.1365T>C (p.Ala455=) rs771279803 0.00001
NM_014714.4(IFT140):c.1376G>C (p.Trp459Ser) rs778311141 0.00001
NM_014714.4(IFT140):c.1381G>A (p.Gly461Arg) rs146049665 0.00001
NM_014714.4(IFT140):c.1394C>T (p.Ala465Val) rs755802373 0.00001
NM_014714.4(IFT140):c.1402G>A (p.Glu468Lys) rs756882000 0.00001
NM_014714.4(IFT140):c.1418C>T (p.Ala473Val) rs765322119 0.00001
NM_014714.4(IFT140):c.1423C>T (p.Arg475Trp) rs771838598 0.00001
NM_014714.4(IFT140):c.1425G>C (p.Arg475=) rs1312262491 0.00001
NM_014714.4(IFT140):c.142G>A (p.Glu48Lys) rs984306756 0.00001
NM_014714.4(IFT140):c.1432+20A>G rs1044258265 0.00001
NM_014714.4(IFT140):c.1433-14G>A rs377750354 0.00001
NM_014714.4(IFT140):c.1433-15C>T rs749683523 0.00001
NM_014714.4(IFT140):c.1433G>A (p.Gly478Glu) rs1322686700 0.00001
NM_014714.4(IFT140):c.1440C>G (p.Phe480Leu) rs770727161 0.00001
NM_014714.4(IFT140):c.1451C>T (p.Thr484Met) rs758052634 0.00001
NM_014714.4(IFT140):c.1469A>G (p.His490Arg) rs537123341 0.00001
NM_014714.4(IFT140):c.147+6T>C rs1387119490 0.00001
NM_014714.4(IFT140):c.148-14C>G rs763887431 0.00001
NM_014714.4(IFT140):c.148-17C>T rs767328501 0.00001
NM_014714.4(IFT140):c.1480G>A (p.Val494Ile) rs767571875 0.00001
NM_014714.4(IFT140):c.1486A>G (p.Thr496Ala) rs774887102 0.00001
NM_014714.4(IFT140):c.1501C>T (p.Arg501Ter) rs1424099914 0.00001
NM_014714.4(IFT140):c.1502G>A (p.Arg501Gln) rs770643403 0.00001
NM_014714.4(IFT140):c.1514G>A (p.Arg505Gln) rs867074389 0.00001
NM_014714.4(IFT140):c.1524+17C>G rs764602004 0.00001
NM_014714.4(IFT140):c.155G>A (p.Cys52Tyr) rs765500124 0.00001
NM_014714.4(IFT140):c.157G>A (p.Val53Met) rs776811329 0.00001
NM_014714.4(IFT140):c.160C>T (p.Pro54Ser) rs771294438 0.00001
NM_014714.4(IFT140):c.172G>A (p.Val58Ile) rs779834991 0.00001
NM_014714.4(IFT140):c.175G>A (p.Glu59Lys) rs745332982 0.00001
NM_014714.4(IFT140):c.182C>T (p.Pro61Leu) rs757082667 0.00001
NM_014714.4(IFT140):c.190G>C (p.Val64Leu) rs146293046 0.00001
NM_014714.4(IFT140):c.217C>T (p.Arg73Trp) rs201990219 0.00001
NM_014714.4(IFT140):c.243G>T (p.Glu81Asp) rs1199982756 0.00001
NM_014714.4(IFT140):c.255G>A (p.Val85=) rs1460243197 0.00001
NM_014714.4(IFT140):c.257C>T (p.Thr86Met) rs1159315989 0.00001
NM_014714.4(IFT140):c.280G>A (p.Glu94Lys) rs768102481 0.00001
NM_014714.4(IFT140):c.321C>T (p.Thr107=) rs374346968 0.00001
NM_014714.4(IFT140):c.352C>T (p.Leu118=) rs201381885 0.00001
NM_014714.4(IFT140):c.359C>G (p.Ser120Cys) rs1457067377 0.00001
NM_014714.4(IFT140):c.36G>A (p.Pro12=) rs574028286 0.00001
NM_014714.4(IFT140):c.382C>G (p.Leu128Val) rs1276436237 0.00001
NM_014714.4(IFT140):c.386T>G (p.Leu129Trp) rs773768491 0.00001
NM_014714.4(IFT140):c.406G>T (p.Gly136Cys) rs2035235540 0.00001
NM_014714.4(IFT140):c.409C>T (p.Arg137Ter) rs762817061 0.00001
NM_014714.4(IFT140):c.422C>T (p.Thr141Met) rs527332087 0.00001
NM_014714.4(IFT140):c.454C>T (p.Leu152Phe) rs1403669200 0.00001
NM_014714.4(IFT140):c.456C>T (p.Leu152=) rs1413072569 0.00001
NM_014714.4(IFT140):c.472C>T (p.Arg158Trp) rs755315693 0.00001
NM_014714.4(IFT140):c.473G>A (p.Arg158Gln) rs754243049 0.00001
NM_014714.4(IFT140):c.488G>T (p.Gly163Val) rs1368823319 0.00001
NM_014714.4(IFT140):c.489C>T (p.Gly163=) rs776597097 0.00001
NM_014714.4(IFT140):c.491+10G>A rs1207530474 0.00001
NM_014714.4(IFT140):c.492-19G>A rs200506181 0.00001
NM_014714.4(IFT140):c.529G>A (p.Asp177Asn) rs774439512 0.00001
NM_014714.4(IFT140):c.54C>G (p.Pro18=) rs1490576630 0.00001
NM_014714.4(IFT140):c.565del (p.Ser189fs) rs1449774485 0.00001
NM_014714.4(IFT140):c.609G>A (p.Leu203=) rs1032107314 0.00001
NM_014714.4(IFT140):c.621C>T (p.Val207=) rs1257821160 0.00001
NM_014714.4(IFT140):c.634+5G>A rs1323647622 0.00001
NM_014714.4(IFT140):c.634+9C>G rs1351365349 0.00001
NM_014714.4(IFT140):c.635-20G>A rs770147783 0.00001
NM_014714.4(IFT140):c.642G>A (p.Val214=) rs765268078 0.00001
NM_014714.4(IFT140):c.685G>A (p.Ala229Thr) rs555382397 0.00001
NM_014714.4(IFT140):c.724A>C (p.Arg242=) rs746754088 0.00001
NM_014714.4(IFT140):c.728A>G (p.Glu243Gly) rs539181813 0.00001
NM_014714.4(IFT140):c.731C>A (p.Ala244Glu) rs758547276 0.00001
NM_014714.4(IFT140):c.740T>C (p.Val247Ala) rs1231656459 0.00001
NM_014714.4(IFT140):c.752A>G (p.Asn251Ser) rs1277927981 0.00001
NM_014714.4(IFT140):c.78C>G (p.Val26=) rs761737670 0.00001
NM_014714.4(IFT140):c.7C>T (p.Leu3Phe) rs1442341163 0.00001
NM_014714.4(IFT140):c.810+14G>A rs1284282935 0.00001
NM_014714.4(IFT140):c.810+7G>A rs1338259838 0.00001
NM_014714.4(IFT140):c.811-19C>T rs568239635 0.00001
NM_014714.4(IFT140):c.831C>T (p.Thr277=) rs772740041 0.00001
NM_014714.4(IFT140):c.849C>T (p.Ile283=) rs563162000 0.00001
NM_014714.4(IFT140):c.850G>A (p.Ala284Thr) rs778404277 0.00001
NM_014714.4(IFT140):c.864C>A (p.Gly288=) rs543424977 0.00001
NM_014714.4(IFT140):c.864C>T (p.Gly288=) rs543424977 0.00001
NM_014714.4(IFT140):c.877A>T (p.Met293Leu) rs761441382 0.00001
NM_014714.4(IFT140):c.883G>A (p.Val295Ile) rs762792738 0.00001
NM_014714.4(IFT140):c.885C>T (p.Val295=) rs775444392 0.00001
NM_014714.4(IFT140):c.900C>T (p.Leu300=) rs1282920198 0.00001
NM_014714.4(IFT140):c.903-13T>G rs748649022 0.00001
NM_014714.4(IFT140):c.903-8T>C rs1165393313 0.00001
NM_014714.4(IFT140):c.914T>C (p.Ile305Thr) rs2507867973 0.00001
NM_014714.4(IFT140):c.975G>T (p.Glu325Asp) rs1330112951 0.00001
NC_000016.10:g.1602592del rs2035852852
NM_014714.3(IFT140):c.(?_-1)_(147+1_148-1)del
NM_014714.4(IFT140):c.-24C>G rs373009406
NM_014714.4(IFT140):c.1001_1003del (p.Lys334_Val335delinsIle)
NM_014714.4(IFT140):c.1006A>C (p.Lys336Gln) rs752956717
NM_014714.4(IFT140):c.1009+10C>T rs2034931004
NM_014714.4(IFT140):c.1009+15C>T
NM_014714.4(IFT140):c.1009+16C>A rs2507863727
NM_014714.4(IFT140):c.1009+17T>C rs376818587
NM_014714.4(IFT140):c.1009+18G>A
NM_014714.4(IFT140):c.1010-10C>A rs376722338
NM_014714.4(IFT140):c.1010-15T>G rs2507837168
NM_014714.4(IFT140):c.1010-6_1013del
NM_014714.4(IFT140):c.1037G>T (p.Gly346Val) rs2507835599
NM_014714.4(IFT140):c.1038G>C (p.Gly346=) rs963488398
NM_014714.4(IFT140):c.1039C>T (p.Arg347Ter) rs1166261279
NM_014714.4(IFT140):c.1042G>C (p.Val348Leu)
NM_014714.4(IFT140):c.1049T>C (p.Met350Thr) rs1188370536
NM_014714.4(IFT140):c.1052G>T (p.Trp351Leu) rs2141840176
NM_014714.4(IFT140):c.1056G>T (p.Arg352Ser) rs750247837
NM_014714.4(IFT140):c.1062A>G (p.Val354=)
NM_014714.4(IFT140):c.106A>T (p.Ser36Cys) rs2508715147
NM_014714.4(IFT140):c.1073_1083del (p.Leu358fs) rs2507833751
NM_014714.4(IFT140):c.1081C>T (p.Pro361Ser) rs1193618147
NM_014714.4(IFT140):c.1089A>G (p.Ala363=) rs2507833476
NM_014714.4(IFT140):c.1096A>G (p.Lys366Glu) rs776044753
NM_014714.4(IFT140):c.1102A>G (p.Arg368Gly)
NM_014714.4(IFT140):c.1103G>C (p.Arg368Thr) rs765706103
NM_014714.4(IFT140):c.1104G>A (p.Arg368=) rs2141839599
NM_014714.4(IFT140):c.1107G>A (p.Trp369Ter)
NM_014714.4(IFT140):c.110C>G (p.Thr37Arg) rs1487413546
NM_014714.4(IFT140):c.1114del (p.Gln372fs) rs777990630
NM_014714.4(IFT140):c.1118C>A (p.Thr373Asn)
NM_014714.4(IFT140):c.1118C>T (p.Thr373Ile) rs2034866999
NM_014714.4(IFT140):c.1119C>T (p.Thr373=) rs759941270
NM_014714.4(IFT140):c.111A>G (p.Thr37=)
NM_014714.4(IFT140):c.1121C>T (p.Pro374Leu) rs2034866707
NM_014714.4(IFT140):c.1125C>G (p.Thr375=) rs771792178
NM_014714.4(IFT140):c.1134A>G (p.Gln378=) rs1234584425
NM_014714.4(IFT140):c.1135G>C (p.Gly379Arg) rs2034865826
NM_014714.4(IFT140):c.113C>A (p.Thr38Asn) rs747462746
NM_014714.4(IFT140):c.1144A>G (p.Thr382Ala) rs748786377
NM_014714.4(IFT140):c.1155+18G>A rs2034862936
NM_014714.4(IFT140):c.1158G>A (p.Trp386Ter)
NM_014714.4(IFT140):c.1167G>A (p.Arg389=) rs2507771178
NM_014714.4(IFT140):c.1167del (p.Lys390fs) rs1085307074
NM_014714.4(IFT140):c.1177C>T (p.Leu393=) rs1274227567
NM_014714.4(IFT140):c.118A>G (p.Thr40Ala) rs1331143723
NM_014714.4(IFT140):c.1191C>T (p.Ser397=) rs1343389946
NM_014714.4(IFT140):c.120A>T (p.Thr40=)
NM_014714.4(IFT140):c.1215C>T (p.Ser405=) rs778865722
NM_014714.4(IFT140):c.1218G>T (p.Glu406Asp)
NM_014714.4(IFT140):c.1221G>A (p.Arg407=) rs761080545
NM_014714.4(IFT140):c.1229C>A (p.Ser410Ter)
NM_014714.4(IFT140):c.1243C>A (p.Gln415Lys) rs2034749798
NM_014714.4(IFT140):c.1251G>A (p.Val417=) rs1011320736
NM_014714.4(IFT140):c.1254C>T (p.Ala418=)
NM_014714.4(IFT140):c.1264G>A (p.Val422Ile)
NM_014714.4(IFT140):c.1268C>A (p.Ser423Tyr) rs1463121305
NM_014714.4(IFT140):c.1288_1289dup (p.Phe431fs)
NM_014714.4(IFT140):c.1290C>T (p.Cys430=)
NM_014714.4(IFT140):c.1293C>A (p.Phe431Leu) rs2507762799
NM_014714.4(IFT140):c.1296G>A (p.Leu432=) rs2141817626
NM_014714.4(IFT140):c.1297T>G (p.Ser433Ala) rs2507762293
NM_014714.4(IFT140):c.1301C>T (p.Thr434Met) rs762293142
NM_014714.4(IFT140):c.1318C>T (p.Leu440=) rs2507760849
NM_014714.4(IFT140):c.1334A>G (p.His445Arg) rs2141817075
NM_014714.4(IFT140):c.1346del (p.Val449fs) rs2507758369
NM_014714.4(IFT140):c.1347G>A (p.Val449=)
NM_014714.4(IFT140):c.1357A>C (p.Lys453Gln)
NM_014714.4(IFT140):c.1359+1G>A rs2034739931
NM_014714.4(IFT140):c.1359+1G>C
NM_014714.4(IFT140):c.1359G>A (p.Lys453=) rs2034740047
NM_014714.4(IFT140):c.1359_1359+3delinsAC rs2141816540
NM_014714.4(IFT140):c.1369G>A (p.Ala457Thr) rs747510464
NM_014714.4(IFT140):c.1369G>T (p.Ala457Ser)
NM_014714.4(IFT140):c.1371A>G (p.Ala457=) rs995975079
NM_014714.4(IFT140):c.1380C>T (p.Asn460=) rs1339640657
NM_014714.4(IFT140):c.1380del (p.Asn460fs) rs431905522
NM_014714.4(IFT140):c.1383A>C (p.Gly461=) rs2507726155
NM_014714.4(IFT140):c.1395G>A (p.Ala465=)
NM_014714.4(IFT140):c.1404G>A (p.Glu468=) rs2507725192
NM_014714.4(IFT140):c.1405C>G (p.Leu469Val) rs190034269
NM_014714.4(IFT140):c.1406T>A (p.Leu469His) rs924912054
NM_014714.4(IFT140):c.1416C>T (p.Ala472=)
NM_014714.4(IFT140):c.1422_1423insAA (p.Arg475fs) rs2141800223
NM_014714.4(IFT140):c.1427G>C (p.Ser476Thr) rs2034677678
NM_014714.4(IFT140):c.1428T>C (p.Ser476=) rs771030841
NM_014714.4(IFT140):c.1429G>T (p.Ala477Ser) rs2034677396
NM_014714.4(IFT140):c.1432+17C>T rs1274170107
NM_014714.4(IFT140):c.1432+18G>T rs374262499
NM_014714.4(IFT140):c.1432+1G>A
NM_014714.4(IFT140):c.1432+5G>A rs773679770
NM_014714.4(IFT140):c.1432+8C>A rs1470310323
NM_014714.4(IFT140):c.1433-11T>G rs2507646152
NM_014714.4(IFT140):c.1433-19T>C
NM_014714.4(IFT140):c.1433-5T>C
NM_014714.4(IFT140):c.1433-8C>A rs2034521408
NM_014714.4(IFT140):c.1437CTT[1] (p.Phe480del)
NM_014714.4(IFT140):c.1445G>A (p.Cys482Tyr) rs1596402406
NM_014714.4(IFT140):c.1449G>A (p.Glu483=)
NM_014714.4(IFT140):c.144G>C (p.Glu48Asp)
NM_014714.4(IFT140):c.1465A>G (p.Met489Val) rs778765501
NM_014714.4(IFT140):c.1468C>A (p.His490Asn)
NM_014714.4(IFT140):c.146_147+2del rs2142099151
NM_014714.4(IFT140):c.147+13A>G rs2508712951
NM_014714.4(IFT140):c.147+2T>G rs2508713536
NM_014714.4(IFT140):c.1470T>C (p.His490=)
NM_014714.4(IFT140):c.148-16_148-15delinsGC rs2142043610
NM_014714.4(IFT140):c.148-2A>G rs775682083
NM_014714.4(IFT140):c.148-8C>A rs2142043483
NM_014714.4(IFT140):c.1483T>G (p.Tyr495Asp) rs2141751528
NM_014714.4(IFT140):c.1488G>A (p.Thr496=)
NM_014714.4(IFT140):c.1490T>C (p.Val497Ala) rs2141751314
NM_014714.4(IFT140):c.1491G>A (p.Val497=) rs2034517360
NM_014714.4(IFT140):c.14A>T (p.Tyr5Phe) rs1049601354
NM_014714.4(IFT140):c.1501C>A (p.Arg501=) rs1424099914
NM_014714.4(IFT140):c.150G>T (p.Gly50=) rs1257577001
NM_014714.4(IFT140):c.1519T>C (p.Trp507Arg) rs2034514419
NM_014714.4(IFT140):c.1520G>C (p.Trp507Ser) rs755959856
NM_014714.4(IFT140):c.1524+16A>G rs2034513209
NM_014714.4(IFT140):c.154T>C (p.Cys52Arg) rs886051770
NM_014714.4(IFT140):c.157_160del (p.Val53fs) rs2508572820
NM_014714.4(IFT140):c.166dup (p.Thr56fs)
NM_014714.4(IFT140):c.167del (p.Thr56fs)
NM_014714.4(IFT140):c.168_171del (p.His57fs) rs2508572124
NM_014714.4(IFT140):c.169del (p.His57fs) rs2508572306
NM_014714.4(IFT140):c.171C>T (p.His57=) rs141882340
NM_014714.4(IFT140):c.173T>G (p.Val58Gly) rs2508571901
NM_014714.4(IFT140):c.175G>T (p.Glu59Ter)
NM_014714.4(IFT140):c.177G>C (p.Glu59Asp) rs1431384802
NM_014714.4(IFT140):c.178A>C (p.Arg60=) rs2142042835
NM_014714.4(IFT140):c.181C>T (p.Pro61Ser) rs886051769
NM_014714.4(IFT140):c.188G>A (p.Arg63Gln) rs765411860
NM_014714.4(IFT140):c.188G>C (p.Arg63Pro) rs765411860
NM_014714.4(IFT140):c.208C>T (p.His70Tyr) rs2142042420
NM_014714.4(IFT140):c.212C>G (p.Pro71Arg) rs772757427
NM_014714.4(IFT140):c.217_218del (p.Arg73fs) rs2035847573
NM_014714.4(IFT140):c.218G>A (p.Arg73Gln) rs149202904
NM_014714.4(IFT140):c.236G>T (p.Gly79Val) rs2035846752
NM_014714.4(IFT140):c.240G>A (p.Trp80Ter) rs1471379682
NM_014714.4(IFT140):c.240G>T (p.Trp80Cys) rs1471379682
NM_014714.4(IFT140):c.244A>G (p.Thr82Ala) rs2035846064
NM_014714.4(IFT140):c.251A>G (p.Glu84Gly) rs755089438
NM_014714.4(IFT140):c.251A>T (p.Glu84Val) rs755089438
NM_014714.4(IFT140):c.258G>A (p.Thr86=) rs766569165
NM_014714.4(IFT140):c.25A>C (p.Ile9Leu) rs750743503
NM_014714.4(IFT140):c.261G>A (p.Val87=) rs760790098
NM_014714.4(IFT140):c.268A>G (p.Lys90Glu)
NM_014714.4(IFT140):c.291G>C (p.Thr97=)
NM_014714.4(IFT140):c.295C>T (p.Pro99Ser) rs763291595
NM_014714.4(IFT140):c.299del (p.Leu100fs)
NM_014714.4(IFT140):c.2T>C (p.Met1Thr) rs1229896671
NM_014714.4(IFT140):c.304C>T (p.His102Tyr) rs1596461586
NM_014714.4(IFT140):c.308_309del (p.Thr103fs) rs1172857937
NM_014714.4(IFT140):c.315C>G (p.Asp105Glu) rs772739900
NM_014714.4(IFT140):c.316A>G (p.Ile106Val) rs1465706247
NM_014714.4(IFT140):c.325C>T (p.Leu109Phe) rs2508564373
NM_014714.4(IFT140):c.326T>C (p.Leu109Pro)
NM_014714.4(IFT140):c.328C>A (p.Arg110Ser) rs140159548
NM_014714.4(IFT140):c.328C>T (p.Arg110Cys) rs140159548
NM_014714.4(IFT140):c.332G>A (p.Trp111Ter)
NM_014714.4(IFT140):c.341G>T (p.Ser114Ile) rs986382695
NM_014714.4(IFT140):c.345A>G (p.Gly115=) rs2508563020
NM_014714.4(IFT140):c.347A>G (p.Asn116Ser) rs904474872
NM_014714.4(IFT140):c.347A>T (p.Asn116Ile)
NM_014714.4(IFT140):c.369+11_369+12del rs1567428187
NM_014714.4(IFT140):c.369+16C>A rs1334020580
NM_014714.4(IFT140):c.369+20A>G rs2508561102
NM_014714.4(IFT140):c.369+4A>G rs752104483
NM_014714.4(IFT140):c.370-10G>A rs2035237445
NM_014714.4(IFT140):c.370-12G>A rs2141917000
NM_014714.4(IFT140):c.370-20G>A rs200779129
NM_014714.4(IFT140):c.370-20G>C rs200779129
NM_014714.4(IFT140):c.370-2A>T
NM_014714.4(IFT140):c.370-3_370-1delinsAA rs2035236903
NM_014714.4(IFT140):c.370-5T>C
NM_014714.4(IFT140):c.378del (p.Leu127fs) rs2508077781
NM_014714.4(IFT140):c.387G>A (p.Leu129=) rs369420968
NM_014714.4(IFT140):c.390G>A (p.Trp130Ter)
NM_014714.4(IFT140):c.398A>C (p.Asp133Ala) rs2141916604
NM_014714.4(IFT140):c.405G>A (p.Arg135=) rs2508076356
NM_014714.4(IFT140):c.413T>G (p.Val138Gly) rs2508075902
NM_014714.4(IFT140):c.41C>T (p.Ala14Val) rs2036120849
NM_014714.4(IFT140):c.420G>A (p.Gly140=) rs1376426387
NM_014714.4(IFT140):c.424C>A (p.Pro142Thr)
NM_014714.4(IFT140):c.435A>G (p.Lys145=) rs925325876
NM_014714.4(IFT140):c.438_440del (p.His146_Glu147delinsGln) rs1309374302
NM_014714.4(IFT140):c.441G>A (p.Glu147=) rs62040002
NM_014714.4(IFT140):c.454C>G (p.Leu152Val) rs1403669200
NM_014714.4(IFT140):c.458C>T (p.Thr153Met)
NM_014714.4(IFT140):c.459G>A (p.Thr153=) rs61739554
NM_014714.4(IFT140):c.459G>T (p.Thr153=) rs61739554
NM_014714.4(IFT140):c.461A>G (p.His154Arg) rs779455831
NM_014714.4(IFT140):c.46_57del (p.Gly16_Ser19del) rs1319813919
NM_014714.4(IFT140):c.474G>C (p.Arg158=) rs145287241
NM_014714.4(IFT140):c.474G>T (p.Arg158=) rs145287241
NM_014714.4(IFT140):c.476T>C (p.Leu159Pro) rs1020544979
NM_014714.4(IFT140):c.478C>A (p.Pro160Thr) rs1319870673
NM_014714.4(IFT140):c.480C>A (p.Pro160=) rs2035231610
NM_014714.4(IFT140):c.481C>A (p.Pro161Thr) rs148462329
NM_014714.4(IFT140):c.481C>G (p.Pro161Ala) rs148462329
NM_014714.4(IFT140):c.481C>T (p.Pro161Ser) rs148462329
NM_014714.4(IFT140):c.482C>A (p.Pro161His) rs191927317
NM_014714.4(IFT140):c.482C>G (p.Pro161Arg) rs191927317
NM_014714.4(IFT140):c.482C>T (p.Pro161Leu) rs191927317
NM_014714.4(IFT140):c.482dup (p.Pro162fs) rs763737398
NM_014714.4(IFT140):c.485C>T (p.Pro162Leu)
NM_014714.4(IFT140):c.490G>T (p.Glu164Ter) rs559314300
NM_014714.4(IFT140):c.491+11G>T rs2508068545
NM_014714.4(IFT140):c.491+16G>A rs2508067947
NM_014714.4(IFT140):c.491+18C>T
NM_014714.4(IFT140):c.492-11T>C
NM_014714.4(IFT140):c.492-15C>G rs896702540
NM_014714.4(IFT140):c.492-15C>T
NM_014714.4(IFT140):c.494A>G (p.Asp165Gly)
NM_014714.4(IFT140):c.505T>C (p.Leu169=) rs2508057542
NM_014714.4(IFT140):c.525C>G (p.Ser175Arg) rs772378665
NM_014714.4(IFT140):c.525C>T (p.Ser175=) rs772378665
NM_014714.4(IFT140):c.54del (p.Ser19fs) rs2142100542
NM_014714.4(IFT140):c.554A>G (p.Asn185Ser) rs975918006
NM_014714.4(IFT140):c.558G>A (p.Trp186Ter) rs2035218747
NM_014714.4(IFT140):c.560A>G (p.Lys187Arg) rs756417017
NM_014714.4(IFT140):c.567C>A (p.Ser189Arg) rs2035217954
NM_014714.4(IFT140):c.570T>G (p.Ser190Arg) rs767008075
NM_014714.4(IFT140):c.583C>A (p.Leu195Met) rs2508051279
NM_014714.4(IFT140):c.584T>C (p.Leu195Pro) rs764851284
NM_014714.4(IFT140):c.587A>G (p.Lys196Arg) rs2141912122
NM_014714.4(IFT140):c.606G>T (p.Gly202=)
NM_014714.4(IFT140):c.609GTT[1] (p.Leu204del) rs759146895
NM_014714.4(IFT140):c.624T>A (p.Ser208Arg) rs2035215270
NM_014714.4(IFT140):c.634+13G>C rs2508045471
NM_014714.4(IFT140):c.635-12G>A rs12447357
NM_014714.4(IFT140):c.637A>C (p.Thr213Pro) rs2141882480
NM_014714.4(IFT140):c.637A>G (p.Thr213Ala) rs2141882480
NM_014714.4(IFT140):c.638C>T (p.Thr213Ile) rs146302646
NM_014714.4(IFT140):c.643C>T (p.His215Tyr)
NM_014714.4(IFT140):c.644A>G (p.His215Arg) rs1446816182
NM_014714.4(IFT140):c.645C>G (p.His215Gln) rs2035078296
NM_014714.4(IFT140):c.648T>G (p.Tyr216Ter) rs2507935242
NM_014714.4(IFT140):c.652G>A (p.Asp218Asn)
NM_014714.4(IFT140):c.659A>G (p.Lys220Arg) rs2507934900
NM_014714.4(IFT140):c.661G>A (p.Gly221Ser) rs1422407152
NM_014714.4(IFT140):c.662del (p.Gly221fs)
NM_014714.4(IFT140):c.678G>C (p.Val226=) rs1270248004
NM_014714.4(IFT140):c.681G>A (p.Val227=) rs2507933993
NM_014714.4(IFT140):c.683C>G (p.Ser228Cys) rs752659125
NM_014714.4(IFT140):c.684C>A (p.Ser228=)
NM_014714.4(IFT140):c.700C>A (p.Gln234Lys) rs768368027
NM_014714.4(IFT140):c.710T>C (p.Phe237Ser) rs2507932931
NM_014714.4(IFT140):c.715A>T (p.Met239Leu) rs781148893
NM_014714.4(IFT140):c.718_720del (p.Glu240del) rs2507932615
NM_014714.4(IFT140):c.72C>A (p.His24Gln) rs2036118371
NM_014714.4(IFT140):c.732A>C (p.Ala244=) rs2507932222
NM_014714.4(IFT140):c.739del (p.Val247fs)
NM_014714.4(IFT140):c.73C>G (p.Pro25Ala) rs1408766601
NM_014714.4(IFT140):c.742del (p.Val248fs)
NM_014714.4(IFT140):c.74C>G (p.Pro25Arg)
NM_014714.4(IFT140):c.754C>T (p.Leu252Phe) rs886051768
NM_014714.4(IFT140):c.757C>T (p.Arg253Trp) rs761276513
NM_014714.4(IFT140):c.772A>T (p.Thr258Ser) rs141254616
NM_014714.4(IFT140):c.774G>A (p.Thr258=) rs746955795
NM_014714.4(IFT140):c.775G>A (p.Val259Met) rs1392612759
NM_014714.4(IFT140):c.792A>G (p.Lys264=) rs2507930290
NM_014714.4(IFT140):c.797AAG[1] (p.Glu267del) rs2035068981
NM_014714.4(IFT140):c.802G>A (p.Val268Met)
NM_014714.4(IFT140):c.810+1G>A
NM_014714.4(IFT140):c.810+6T>C rs2035068589
NM_014714.4(IFT140):c.810+9G>T rs886051767
NM_014714.4(IFT140):c.810G>A (p.Lys270=) rs2507929757
NM_014714.4(IFT140):c.811-11dup rs2034984327
NM_014714.4(IFT140):c.811-18G>A rs371769718
NM_014714.4(IFT140):c.811-2A>G rs1596419766
NM_014714.4(IFT140):c.811-3C>G
NM_014714.4(IFT140):c.813C>G (p.Val271=)
NM_014714.4(IFT140):c.816G>A (p.Lys272=) rs2034983125
NM_014714.4(IFT140):c.835C>T (p.Arg279Cys)
NM_014714.4(IFT140):c.836G>A (p.Arg279His) rs4786350
NM_014714.4(IFT140):c.836G>C (p.Arg279Pro) rs4786350
NM_014714.4(IFT140):c.844G>C (p.Asp282His) rs1305252408
NM_014714.4(IFT140):c.845A>T (p.Asp282Val)
NM_014714.4(IFT140):c.849C>G (p.Ile283Met) rs563162000
NM_014714.4(IFT140):c.857T>C (p.Ile286Thr)
NM_014714.4(IFT140):c.857_860del (p.Ile286fs) rs431905506
NM_014714.4(IFT140):c.867C>G (p.Ser289Arg) rs145858131
NM_014714.4(IFT140):c.867C>T (p.Ser289=) rs145858131
NM_014714.4(IFT140):c.873C>T (p.Leu291=) rs771189923
NM_014714.4(IFT140):c.874G>A (p.Val292Met) rs431905521
NM_014714.4(IFT140):c.878T>A (p.Met293Lys)
NM_014714.4(IFT140):c.881C>T (p.Ala294Val) rs1452513681
NM_014714.4(IFT140):c.882C>A (p.Ala294=)
NM_014714.4(IFT140):c.886G>T (p.Gly296Trp) rs574450870
NM_014714.4(IFT140):c.889G>T (p.Glu297Ter) rs1263308663
NM_014714.4(IFT140):c.895G>T (p.Ala299Ser) rs2507887939
NM_014714.4(IFT140):c.903-1G>A rs1567407044
NM_014714.4(IFT140):c.903-5T>A rs900599017
NM_014714.4(IFT140):c.903-9C>T rs373647468
NM_014714.4(IFT140):c.909G>A (p.Trp303Ter)
NM_014714.4(IFT140):c.910del (p.Asp304fs) rs2507868188
NM_014714.4(IFT140):c.912C>T (p.Asp304=) rs749699473
NM_014714.4(IFT140):c.913A>G (p.Ile305Val) rs1459658871
NM_014714.4(IFT140):c.919C>T (p.Arg307Ter) rs1307461796
NM_014714.4(IFT140):c.922G>A (p.Gly308Arg) rs1008745925
NM_014714.4(IFT140):c.927G>C (p.Glu309Asp) rs2141852274
NM_014714.4(IFT140):c.932A>G (p.Tyr311Cys) rs387907193
NM_014714.4(IFT140):c.937C>G (p.Leu313Val) rs758052767
NM_014714.4(IFT140):c.939G>C (p.Leu313=) rs2507867021
NM_014714.4(IFT140):c.945A>G (p.Pro315=) rs759222338
NM_014714.4(IFT140):c.94G>A (p.Val32Ile) rs770234866
NM_014714.4(IFT140):c.94G>C (p.Val32Leu) rs770234866
NM_014714.4(IFT140):c.94G>T (p.Val32Phe) rs770234866
NM_014714.4(IFT140):c.951G>A (p.Glu317=) rs2141851936
NM_014714.4(IFT140):c.973G>A (p.Glu325Lys) rs2141851736
NM_014714.4(IFT140):c.974A>G (p.Glu325Gly) rs2507865687
NM_014714.4(IFT140):c.975G>A (p.Glu325=) rs1330112951
NM_014714.4(IFT140):c.97G>A (p.Ala33Thr) rs746383907
NM_014714.4(IFT140):c.986G>A (p.Cys329Tyr) rs898824836
NM_014714.4(IFT140):c.989T>C (p.Val330Ala) rs2034932329
NM_014714.4(IFT140):c.995A>C (p.Tyr332Ser)
NM_014714.4(IFT140):c.996C>G (p.Tyr332Ter)
NM_014714.4(IFT140):c.997T>G (p.Cys333Gly) rs2141851372
NM_014714.4(IFT140):c.9C>G (p.Leu3=) rs2508720251

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