ClinVar Miner

List of variants in gene IFT140 studied for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 951
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HGVS dbSNP gnomAD frequency
NM_014714.4(IFT140):c.3270+19T>C rs2745176 0.96626
NM_014714.4(IFT140):c.3454-48A>G rs932391 0.45637
NM_014714.4(IFT140):c.1968T>C (p.Ser656=) rs8048410 0.42981
NM_014714.4(IFT140):c.*59T>C rs1053730 0.34440
NM_014714.4(IFT140):c.2253T>C (p.Pro751=) rs2076436 0.30184
NM_014714.4(IFT140):c.4041-44T>C rs2076434 0.24775
NM_014714.4(IFT140):c.1862G>A (p.Arg621Gln) rs11648609 0.05163
NM_014714.4(IFT140):c.3209C>T (p.Ala1070Val) rs2235638 0.05119
NM_014714.4(IFT140):c.1682G>A (p.Ser561Asn) rs8050974 0.02675
NM_014714.4(IFT140):c.1918G>A (p.Asp640Asn) rs61742753 0.02347
NM_014714.4(IFT140):c.4380C>T (p.Asp1460=) rs61749517 0.02245
NM_014714.4(IFT140):c.2008C>T (p.Pro670Ser) rs34900355 0.02198
NM_014714.4(IFT140):c.2454C>T (p.Asp818=) rs34668993 0.01885
NM_014714.4(IFT140):c.3743T>C (p.Ile1248Thr) rs79494390 0.01709
NM_014714.4(IFT140):c.2330T>G (p.Leu777Arg) rs34535263 0.01269
NM_014714.4(IFT140):c.3990G>A (p.Ala1330=) rs61745103 0.01137
NM_014714.4(IFT140):c.*63A>G rs149678731 0.00706
NM_014714.4(IFT140):c.2569G>A (p.Gly857Ser) rs200876696 0.00622
NM_014714.4(IFT140):c.2550C>T (p.Ala850=) rs2745180 0.00615
NM_014714.4(IFT140):c.4040+10C>T rs138364426 0.00542
NM_014714.4(IFT140):c.4040+11G>A rs144624901 0.00530
NM_014714.4(IFT140):c.3711C>T (p.Phe1237=) rs146172074 0.00344
NM_014714.4(IFT140):c.2247C>T (p.His749=) rs9930526 0.00312
NM_014714.4(IFT140):c.1541T>A (p.Leu514His) rs150903791 0.00297
NM_014714.4(IFT140):c.1542C>A (p.Leu514=) rs141542834 0.00297
NM_014714.4(IFT140):c.1831G>A (p.Val611Ile) rs35301526 0.00228
NM_014714.4(IFT140):c.3874-11C>T rs199887622 0.00220
NM_014714.4(IFT140):c.3993G>C (p.Gln1331His) rs35823417 0.00168
NM_014714.4(IFT140):c.4040+15C>G rs373703197 0.00160
NM_014714.4(IFT140):c.2067+12C>T rs201954701 0.00129
NM_014714.4(IFT140):c.1574G>C (p.Cys525Ser) rs112545558 0.00122
NM_014714.4(IFT140):c.2561C>T (p.Thr854Met) rs202189990 0.00109
NM_014714.4(IFT140):c.4264G>A (p.Ala1422Thr) rs144726977 0.00104
NM_014714.4(IFT140):c.1824A>G (p.Thr608=) rs35433680 0.00094
NM_014714.4(IFT140):c.4297C>T (p.Arg1433Cys) rs141392067 0.00086
NM_014714.4(IFT140):c.4319G>A (p.Arg1440His) rs34813273 0.00086
NM_014714.4(IFT140):c.2057C>G (p.Ala686Gly) rs140941344 0.00083
NM_014714.4(IFT140):c.1788T>C (p.Asp596=) rs148904634 0.00079
NM_014714.4(IFT140):c.*403G>A rs143732634 0.00078
NM_014714.4(IFT140):c.3900C>T (p.Tyr1300=) rs148387007 0.00075
NM_014714.4(IFT140):c.1667A>G (p.His556Arg) rs137925718 0.00073
NM_014714.4(IFT140):c.2578-12C>G rs370111842 0.00071
NM_014714.4(IFT140):c.*153C>T rs760987640 0.00051
NM_014714.4(IFT140):c.4273C>A (p.Arg1425=) rs138697817 0.00051
NM_014714.4(IFT140):c.2756G>A (p.Arg919Gln) rs201851204 0.00050
NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr) rs200699325 0.00050
NM_014714.4(IFT140):c.1593G>T (p.Gly531=) rs143491016 0.00048
NM_014714.4(IFT140):c.2360A>G (p.Asp787Gly) rs144938800 0.00048
NM_014714.4(IFT140):c.2067G>A (p.Ala689=) rs143537808 0.00043
NM_014714.4(IFT140):c.3542C>T (p.Ser1181Leu) rs145814071 0.00043
NM_014714.4(IFT140):c.3684C>T (p.Ser1228=) rs146464282 0.00043
NM_014714.4(IFT140):c.4208G>A (p.Arg1403Gln) rs113216558 0.00043
NM_014714.4(IFT140):c.*235C>A rs184405274 0.00040
NM_014714.4(IFT140):c.2110G>A (p.Gly704Ser) rs150745099 0.00040
NM_014714.4(IFT140):c.3661-18C>T rs575501010 0.00039
NM_014714.4(IFT140):c.3693G>A (p.Thr1231=) rs144028766 0.00038
NM_014714.4(IFT140):c.3861C>T (p.Asp1287=) rs143899594 0.00037
NM_014714.4(IFT140):c.2586C>T (p.Ala862=) rs148557575 0.00031
NM_014714.4(IFT140):c.2768+18G>A rs143663088 0.00030
NM_014714.4(IFT140):c.3426G>A (p.Ala1142=) rs202224171 0.00029
NM_014714.4(IFT140):c.*2G>A rs144879630 0.00025
NM_014714.4(IFT140):c.3532A>G (p.Lys1178Glu) rs538114464 0.00025
NM_014714.4(IFT140):c.3173T>C (p.Leu1058Ser) rs141471091 0.00024
NM_014714.4(IFT140):c.2768+17C>T rs373280850 0.00023
NM_014714.4(IFT140):c.3271-4G>A rs200815296 0.00021
NM_014714.4(IFT140):c.4144C>T (p.Leu1382=) rs139458566 0.00021
NM_014714.4(IFT140):c.4381G>A (p.Asp1461Asn) rs201065562 0.00019
NM_014714.4(IFT140):c.3543G>A (p.Ser1181=) rs377427370 0.00018
NM_014714.4(IFT140):c.-317T>A rs866146909 0.00016
NM_014714.4(IFT140):c.2742C>T (p.Ser914=) rs374793763 0.00016
NM_014714.4(IFT140):c.3562C>T (p.Arg1188Trp) rs575196272 0.00016
NM_014714.4(IFT140):c.3718G>A (p.Val1240Met) rs114611454 0.00016
NM_014714.4(IFT140):c.3874-17G>A rs376776316 0.00016
NM_014714.4(IFT140):c.4205T>C (p.Met1402Thr) rs202129528 0.00015
NM_014714.4(IFT140):c.2651G>A (p.Arg884Gln) rs150498538 0.00014
NM_014714.4(IFT140):c.*46T>G rs761282751 0.00013
NM_014714.4(IFT140):c.2388G>A (p.Lys796=) rs761593016 0.00013
NM_014714.4(IFT140):c.2583C>T (p.Asp861=) rs576060920 0.00013
NM_014714.4(IFT140):c.3147C>T (p.Asn1049=) rs150129370 0.00013
NM_014714.4(IFT140):c.2551G>A (p.Val851Met) rs754753583 0.00012
NM_014714.4(IFT140):c.2768+12C>T rs756491638 0.00012
NM_014714.4(IFT140):c.1861C>T (p.Arg621Trp) rs146480546 0.00011
NM_014714.4(IFT140):c.2724C>T (p.Ala908=) rs138166567 0.00011
NM_014714.4(IFT140):c.3383G>A (p.Arg1128His) rs147661907 0.00011
NM_014714.4(IFT140):c.3668G>C (p.Arg1223Thr) rs751861503 0.00011
NM_014714.4(IFT140):c.3874-10A>C rs761503137 0.00011
NM_014714.4(IFT140):c.4125C>T (p.Ile1375=) rs543475833 0.00011
NM_014714.4(IFT140):c.*118G>A rs372303683 0.00010
NM_014714.4(IFT140):c.1975C>T (p.Arg659Trp) rs749099710 0.00010
NM_014714.4(IFT140):c.2399+12G>A rs762486311 0.00010
NM_014714.4(IFT140):c.*430G>A rs532233762 0.00009
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
NM_014714.4(IFT140):c.1995C>T (p.Ala665=) rs200653061 0.00009
NM_014714.4(IFT140):c.2199+19C>T rs773530788 0.00009
NM_014714.4(IFT140):c.2504C>T (p.Ala835Val) rs368232950 0.00009
NM_014714.4(IFT140):c.2528C>T (p.Pro843Leu) rs774864079 0.00009
NM_014714.4(IFT140):c.2542C>T (p.Arg848Cys) rs201384469 0.00009
NM_014714.4(IFT140):c.2741G>A (p.Ser914Asn) rs369848545 0.00009
NM_014714.4(IFT140):c.2768+9G>A rs780735055 0.00009
NM_014714.4(IFT140):c.3661-7T>C rs371103301 0.00009
NM_014714.4(IFT140):c.4260G>C (p.Val1420=) rs200228341 0.00009
NM_014714.4(IFT140):c.4303G>A (p.Val1435Ile) rs145746065 0.00009
NM_014714.4(IFT140):c.4309G>A (p.Glu1437Lys) rs201642067 0.00009
NM_014714.4(IFT140):c.4354G>A (p.Glu1452Lys) rs142106374 0.00009
NM_014714.4(IFT140):c.1646C>T (p.Ser549Phe) rs751137317 0.00008
NM_014714.4(IFT140):c.1649G>A (p.Arg550Gln) rs762399912 0.00008
NM_014714.4(IFT140):c.2067+4C>T rs111785408 0.00008
NM_014714.4(IFT140):c.2407G>A (p.Val803Ile) rs538791217 0.00008
NM_014714.4(IFT140):c.2543G>A (p.Arg848His) rs746743309 0.00008
NM_014714.4(IFT140):c.3466C>T (p.Leu1156=) rs28718802 0.00008
NM_014714.4(IFT140):c.3639G>A (p.Thr1213=) rs747655543 0.00008
NM_014714.4(IFT140):c.3947A>T (p.Lys1316Met) rs1288732698 0.00008
NM_014714.4(IFT140):c.4183-20T>C rs371461352 0.00008
NM_014714.4(IFT140):c.1653-14C>T rs148433720 0.00007
NM_014714.4(IFT140):c.1876T>C (p.Ser626Pro) rs200765913 0.00007
NM_014714.4(IFT140):c.1989C>T (p.Cys663=) rs781117803 0.00007
NM_014714.4(IFT140):c.2067+5G>A rs370629233 0.00007
NM_014714.4(IFT140):c.2079G>C (p.Leu693Phe) rs137966471 0.00007
NM_014714.4(IFT140):c.4214G>A (p.Arg1405Gln) rs558519810 0.00007
NM_014714.4(IFT140):c.4298G>A (p.Arg1433His) rs138420849 0.00007
NM_014714.4(IFT140):c.4318C>T (p.Arg1440Cys) rs758535401 0.00007
NM_014714.4(IFT140):c.2399+1G>T rs376586707 0.00006
NM_014714.4(IFT140):c.2423C>T (p.Ala808Val) rs748463111 0.00006
NM_014714.4(IFT140):c.2517G>A (p.Ala839=) rs767699979 0.00006
NM_014714.4(IFT140):c.2530G>C (p.Glu844Gln) rs768971224 0.00006
NM_014714.4(IFT140):c.2645C>T (p.Ala882Val) rs200394007 0.00006
NM_014714.4(IFT140):c.3490A>G (p.Met1164Val) rs369425839 0.00006
NM_014714.4(IFT140):c.3580C>G (p.Gln1194Glu) rs555330165 0.00006
NM_014714.4(IFT140):c.3598A>C (p.Met1200Leu) rs566568065 0.00006
NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter) rs1002670900 0.00006
NM_014714.4(IFT140):c.4131C>T (p.Asp1377=) rs751862515 0.00006
NM_014714.4(IFT140):c.4266C>T (p.Ala1422=) rs149359139 0.00006
NM_014714.4(IFT140):c.4379A>G (p.Asp1460Gly) rs771632573 0.00006
NM_014714.4(IFT140):c.1896T>A (p.Thr632=) rs141276689 0.00005
NM_014714.4(IFT140):c.1976G>A (p.Arg659Gln) rs780189760 0.00005
NM_014714.4(IFT140):c.1984G>A (p.Val662Ile) rs199758112 0.00005
NM_014714.4(IFT140):c.2491C>T (p.Arg831Cys) rs774690522 0.00005
NM_014714.4(IFT140):c.2493C>T (p.Arg831=) rs745477833 0.00005
NM_014714.4(IFT140):c.2544C>T (p.Arg848=) rs371008462 0.00005
NM_014714.4(IFT140):c.3382C>T (p.Arg1128Cys) rs368830697 0.00005
NM_014714.4(IFT140):c.3660+14G>A rs571494292 0.00005
NM_014714.4(IFT140):c.3779G>A (p.Arg1260Gln) rs571556177 0.00005
NM_014714.4(IFT140):c.4250C>T (p.Pro1417Leu) rs555799779 0.00005
NM_014714.4(IFT140):c.4274G>A (p.Arg1425Gln) rs150276786 0.00005
NM_014714.4(IFT140):c.-267G>C rs574385960 0.00004
NM_014714.4(IFT140):c.1653-4G>A rs750603473 0.00004
NM_014714.4(IFT140):c.1726C>T (p.Arg576Trp) rs757678246 0.00004
NM_014714.4(IFT140):c.1740C>T (p.Ser580=) rs1314445049 0.00004
NM_014714.4(IFT140):c.1789T>G (p.Ser597Ala) rs771450990 0.00004
NM_014714.4(IFT140):c.1990G>A (p.Glu664Lys) rs387907192 0.00004
NM_014714.4(IFT140):c.2044C>A (p.Gln682Lys) rs371064856 0.00004
NM_014714.4(IFT140):c.2066C>T (p.Ala689Val) rs147290396 0.00004
NM_014714.4(IFT140):c.2068-12T>G rs377366035 0.00004
NM_014714.4(IFT140):c.2119C>T (p.Leu707Phe) rs141172132 0.00004
NM_014714.4(IFT140):c.2400-13C>T rs558510749 0.00004
NM_014714.4(IFT140):c.2424G>A (p.Ala808=) rs375979698 0.00004
NM_014714.4(IFT140):c.2433C>T (p.Cys811=) rs756784917 0.00004
NM_014714.4(IFT140):c.2492G>A (p.Arg831His) rs769046641 0.00004
NM_014714.4(IFT140):c.2501G>A (p.Arg834Gln) rs771116194 0.00004
NM_014714.4(IFT140):c.2505G>A (p.Ala835=) rs147300509 0.00004
NM_014714.4(IFT140):c.2516C>T (p.Ala839Val) rs145609033 0.00004
NM_014714.4(IFT140):c.2562G>A (p.Thr854=) rs750695023 0.00004
NM_014714.4(IFT140):c.2577+13C>T rs775827558 0.00004
NM_014714.4(IFT140):c.3156C>T (p.Asp1052=) rs528573485 0.00004
NM_014714.4(IFT140):c.3193G>A (p.Glu1065Lys) rs373564205 0.00004
NM_014714.4(IFT140):c.3210G>A (p.Ala1070=) rs372233286 0.00004
NM_014714.4(IFT140):c.3235G>A (p.Val1079Met) rs146537096 0.00004
NM_014714.4(IFT140):c.3252G>A (p.Ala1084=) rs375975334 0.00004
NM_014714.4(IFT140):c.3271-5C>T rs368227090 0.00004
NM_014714.4(IFT140):c.3408C>G (p.His1136Gln) rs374602347 0.00004
NM_014714.4(IFT140):c.3454-18A>G rs373222244 0.00004
NM_014714.4(IFT140):c.3454-6T>C rs765039853 0.00004
NM_014714.4(IFT140):c.3558G>A (p.Glu1186=) rs368713443 0.00004
NM_014714.4(IFT140):c.3675G>T (p.Leu1225=) rs759998867 0.00004
NM_014714.4(IFT140):c.3695A>G (p.Glu1232Gly) rs774000109 0.00004
NM_014714.4(IFT140):c.3830G>A (p.Arg1277Gln) rs756683299 0.00004
NM_014714.4(IFT140):c.3881T>C (p.Ile1294Thr) rs539917190 0.00004
NM_014714.4(IFT140):c.4036C>T (p.Arg1346Cys) rs556735183 0.00004
NM_014714.4(IFT140):c.4037G>A (p.Arg1346His) rs144050063 0.00004
NM_014714.4(IFT140):c.4048A>G (p.Thr1350Ala) rs756448762 0.00004
NM_014714.4(IFT140):c.4163G>A (p.Arg1388Gln) rs369058620 0.00004
NM_014714.4(IFT140):c.4182+15C>T rs374874160 0.00004
NM_014714.4(IFT140):c.4350G>A (p.Leu1450=) rs750381445 0.00004
NM_014714.4(IFT140):c.4377_4378insA (p.Asp1460fs) rs753109181 0.00004
NM_014714.4(IFT140):c.*23C>T rs752974569 0.00003
NM_014714.4(IFT140):c.*429C>T rs192256907 0.00003
NM_014714.4(IFT140):c.1727G>A (p.Arg576Gln) rs373111085 0.00003
NM_014714.4(IFT140):c.1901+1G>T rs375910993 0.00003
NM_014714.4(IFT140):c.1972C>T (p.Pro658Ser) rs778960409 0.00003
NM_014714.4(IFT140):c.2035G>A (p.Gly679Arg) rs769632242 0.00003
NM_014714.4(IFT140):c.2116C>T (p.Leu706=) rs201118178 0.00003
NM_014714.4(IFT140):c.2138G>A (p.Arg713Gln) rs200440483 0.00003
NM_014714.4(IFT140):c.2229G>A (p.Val743=) rs770298357 0.00003
NM_014714.4(IFT140):c.2304C>T (p.Cys768=) rs373923984 0.00003
NM_014714.4(IFT140):c.2425C>T (p.Arg809Cys) rs755748472 0.00003
NM_014714.4(IFT140):c.2510G>A (p.Arg837His) rs374429002 0.00003
NM_014714.4(IFT140):c.2577+9C>T rs764603088 0.00003
NM_014714.4(IFT140):c.2584G>A (p.Ala862Thr) rs751629348 0.00003
NM_014714.4(IFT140):c.2611C>T (p.Arg871Cys) rs767213195 0.00003
NM_014714.4(IFT140):c.2650C>T (p.Arg884Trp) rs554196965 0.00003
NM_014714.4(IFT140):c.2692G>A (p.Val898Met) rs369457143 0.00003
NM_014714.4(IFT140):c.2717G>A (p.Arg906His) rs754338217 0.00003
NM_014714.4(IFT140):c.2725G>A (p.Gly909Arg) rs201100248 0.00003
NM_014714.4(IFT140):c.2743G>A (p.Ala915Thr) rs529397200 0.00003
NM_014714.4(IFT140):c.2746G>A (p.Asp916Asn) rs568921640 0.00003
NM_014714.4(IFT140):c.3302C>T (p.Ala1101Val) rs773291603 0.00003
NM_014714.4(IFT140):c.3350T>C (p.Leu1117Pro) rs749518919 0.00003
NM_014714.4(IFT140):c.3453+14G>A rs376739986 0.00003
NM_014714.4(IFT140):c.3560C>T (p.Ser1187Leu) rs952706482 0.00003
NM_014714.4(IFT140):c.3645C>T (p.Ala1215=) rs778438102 0.00003
NM_014714.4(IFT140):c.3714G>A (p.Ala1238=) rs142224579 0.00003
NM_014714.4(IFT140):c.3719T>C (p.Val1240Ala) rs149521576 0.00003
NM_014714.4(IFT140):c.3841C>G (p.Leu1281Val) rs1205008767 0.00003
NM_014714.4(IFT140):c.4041-5G>A rs754813435 0.00003
NM_014714.4(IFT140):c.4136A>G (p.Tyr1379Cys) rs117433764 0.00003
NM_014714.4(IFT140):c.4148T>C (p.Val1383Ala) rs373499004 0.00003
NM_014714.4(IFT140):c.4158C>T (p.Tyr1386=) rs111494974 0.00003
NM_014714.4(IFT140):c.4162C>T (p.Arg1388Trp) rs760253028 0.00003
NM_014714.4(IFT140):c.4263C>T (p.Asp1421=) rs138436199 0.00003
NM_014714.4(IFT140):c.4383C>T (p.Asp1461=) rs768372140 0.00003
NM_014714.4(IFT140):c.4385C>T (p.Pro1462Leu) rs1198844614 0.00003
NM_014714.3(IFT140):c.-328C>T rs528212874 0.00002
NM_014714.4(IFT140):c.1770+13C>T rs750396462 0.00002
NM_014714.4(IFT140):c.1809T>C (p.Asp603=) rs779610741 0.00002
NM_014714.4(IFT140):c.1830C>T (p.Thr610=) rs201049966 0.00002
NM_014714.4(IFT140):c.1944C>T (p.Pro648=) rs763449097 0.00002
NM_014714.4(IFT140):c.1999C>G (p.Gln667Glu) rs753128503 0.00002
NM_014714.4(IFT140):c.2072A>T (p.Asp691Val) rs763569081 0.00002
NM_014714.4(IFT140):c.2109C>T (p.His703=) rs375957506 0.00002
NM_014714.4(IFT140):c.2199+10C>T rs753778878 0.00002
NM_014714.4(IFT140):c.2199+13G>A rs760589428 0.00002
NM_014714.4(IFT140):c.2200-17G>C rs750260483 0.00002
NM_014714.4(IFT140):c.2200-20A>G rs760501465 0.00002
NM_014714.4(IFT140):c.2224G>A (p.Glu742Lys) rs1420709766 0.00002
NM_014714.4(IFT140):c.2312C>T (p.Ala771Val) rs764243187 0.00002
NM_014714.4(IFT140):c.2313C>T (p.Ala771=) rs763029487 0.00002
NM_014714.4(IFT140):c.2322C>T (p.Asp774=) rs546631348 0.00002
NM_014714.4(IFT140):c.2372C>G (p.Ala791Gly) rs758544371 0.00002
NM_014714.4(IFT140):c.2464G>A (p.Val822Met) rs1157116921 0.00002
NM_014714.4(IFT140):c.2488G>A (p.Ala830Thr) rs1438111084 0.00002
NM_014714.4(IFT140):c.2632T>A (p.Phe878Ile) rs1396499118 0.00002
NM_014714.4(IFT140):c.2691C>T (p.Arg897=) rs776456361 0.00002
NM_014714.4(IFT140):c.2701C>T (p.Arg901Cys) rs778004145 0.00002
NM_014714.4(IFT140):c.2702G>A (p.Arg901His) rs374245105 0.00002
NM_014714.4(IFT140):c.2745C>T (p.Ala915=) rs770674501 0.00002
NM_014714.4(IFT140):c.3148G>A (p.Gly1050Ser) rs763140298 0.00002
NM_014714.4(IFT140):c.3270+7G>T rs773532379 0.00002
NM_014714.4(IFT140):c.3347A>G (p.Asp1116Gly) rs768889794 0.00002
NM_014714.4(IFT140):c.3360G>A (p.Thr1120=) rs750862050 0.00002
NM_014714.4(IFT140):c.3390C>T (p.Ser1130=) rs765923171 0.00002
NM_014714.4(IFT140):c.3502G>A (p.Glu1168Lys) rs780721001 0.00002
NM_014714.4(IFT140):c.3526G>A (p.Val1176Met) rs764946729 0.00002
NM_014714.4(IFT140):c.3584T>C (p.Ile1195Thr) rs753550166 0.00002
NM_014714.4(IFT140):c.3602G>A (p.Arg1201His) rs147292597 0.00002
NM_014714.4(IFT140):c.3625A>G (p.Thr1209Ala) rs1464318641 0.00002
NM_014714.4(IFT140):c.3650A>G (p.Asn1217Ser) rs368380437 0.00002
NM_014714.4(IFT140):c.3660+12C>T rs755939601 0.00002
NM_014714.4(IFT140):c.3671C>T (p.Ala1224Val) rs369161842 0.00002
NM_014714.4(IFT140):c.3875T>C (p.Val1292Ala) rs138311751 0.00002
NM_014714.4(IFT140):c.3925G>A (p.Glu1309Lys) rs756142477 0.00002
NM_014714.4(IFT140):c.3995T>C (p.Leu1332Pro) rs902428763 0.00002
NM_014714.4(IFT140):c.4043C>T (p.Thr1348Met) rs557586568 0.00002
NM_014714.4(IFT140):c.4181C>T (p.Thr1394Met) rs771765849 0.00002
NM_014714.4(IFT140):c.4207C>T (p.Arg1403Trp) rs772400580 0.00002
NM_014714.4(IFT140):c.4232T>G (p.Met1411Arg) rs752233693 0.00002
NM_014714.4(IFT140):c.4302C>T (p.Thr1434=) rs774573860 0.00002
NM_014714.4(IFT140):c.*207C>T rs1192536789 0.00001
NM_014714.4(IFT140):c.-221-6T>A rs886051772 0.00001
NM_014714.4(IFT140):c.1527G>A (p.Gly509=) rs777713841 0.00001
NM_014714.4(IFT140):c.1553C>T (p.Ser518Leu) rs761365882 0.00001
NM_014714.4(IFT140):c.1554G>A (p.Ser518=) rs774109456 0.00001
NM_014714.4(IFT140):c.1559C>T (p.Thr520Ile) rs1321089981 0.00001
NM_014714.4(IFT140):c.1563G>A (p.Glu521=) rs146356094 0.00001
NM_014714.4(IFT140):c.1585A>G (p.Ile529Val) rs145895414 0.00001
NM_014714.4(IFT140):c.1602G>C (p.Leu534=) rs778106074 0.00001
NM_014714.4(IFT140):c.1607T>C (p.Val536Ala) rs1206065799 0.00001
NM_014714.4(IFT140):c.1611G>C (p.Gly537=) rs745415176 0.00001
NM_014714.4(IFT140):c.1644T>C (p.Leu548=) rs761146898 0.00001
NM_014714.4(IFT140):c.1652+20A>C rs1300522608 0.00001
NM_014714.4(IFT140):c.1688C>T (p.Ala563Val) rs968524691 0.00001
NM_014714.4(IFT140):c.1707G>A (p.Val569=) rs1463801449 0.00001
NM_014714.4(IFT140):c.1708G>C (p.Gly570Arg) rs749278176 0.00001
NM_014714.4(IFT140):c.1741G>A (p.Gly581Arg) rs532971915 0.00001
NM_014714.4(IFT140):c.1778A>C (p.Asn593Thr) rs775630184 0.00001
NM_014714.4(IFT140):c.1807G>A (p.Asp603Asn) rs138674110 0.00001
NM_014714.4(IFT140):c.1837G>A (p.Asp613Asn) rs200208525 0.00001
NM_014714.4(IFT140):c.1856T>C (p.Ile619Thr) rs759612242 0.00001
NM_014714.4(IFT140):c.1869G>C (p.Glu623Asp) rs2033705618 0.00001
NM_014714.4(IFT140):c.1872G>A (p.Thr624=) rs775156902 0.00001
NM_014714.4(IFT140):c.1901+5G>A rs999790368 0.00001
NM_014714.4(IFT140):c.1938T>C (p.Tyr646=) rs752166799 0.00001
NM_014714.4(IFT140):c.1959G>A (p.Trp653Ter) rs770731272 0.00001
NM_014714.4(IFT140):c.1965G>A (p.Gln655=) rs571683311 0.00001
NM_014714.4(IFT140):c.1971G>A (p.Glu657=) rs1044429755 0.00001
NM_014714.4(IFT140):c.1974C>T (p.Pro658=) rs768412481 0.00001
NM_014714.4(IFT140):c.1977G>A (p.Arg659=) rs1165625635 0.00001
NM_014714.4(IFT140):c.2009C>T (p.Pro670Leu) rs149845330 0.00001
NM_014714.4(IFT140):c.2012G>A (p.Arg671His) rs1372026395 0.00001
NM_014714.4(IFT140):c.2053C>T (p.Arg685Cys) rs778368172 0.00001
NM_014714.4(IFT140):c.2054G>A (p.Arg685His) rs370263158 0.00001
NM_014714.4(IFT140):c.2067+7T>G rs775453495 0.00001
NM_014714.4(IFT140):c.2078T>C (p.Leu693Ser) rs370031319 0.00001
NM_014714.4(IFT140):c.2103A>G (p.Glu701=) rs1567373288 0.00001
NM_014714.4(IFT140):c.2169G>A (p.Met723Ile) rs777432507 0.00001
NM_014714.4(IFT140):c.2176C>G (p.Pro726Ala) rs1057518064 0.00001
NM_014714.4(IFT140):c.2177C>T (p.Pro726Leu) rs1417500285 0.00001
NM_014714.4(IFT140):c.2209G>A (p.Ala737Thr) rs1161696291 0.00001
NM_014714.4(IFT140):c.2242C>T (p.His748Tyr) rs760427350 0.00001
NM_014714.4(IFT140):c.2261T>C (p.Val754Ala) rs754474621 0.00001
NM_014714.4(IFT140):c.2279G>A (p.Arg760Gln) rs780086795 0.00001
NM_014714.4(IFT140):c.2303G>A (p.Cys768Tyr) rs145283562 0.00001
NM_014714.4(IFT140):c.2318G>A (p.Arg773Gln) rs140458893 0.00001
NM_014714.4(IFT140):c.2323G>A (p.Ala775Thr) rs771255082 0.00001
NM_014714.4(IFT140):c.2334C>T (p.His778=) rs774009074 0.00001
NM_014714.4(IFT140):c.2367C>T (p.Asp789=) rs757026549 0.00001
NM_014714.4(IFT140):c.2400-15C>T rs1342261365 0.00001
NM_014714.4(IFT140):c.2406C>T (p.Ala802=) rs1164268369 0.00001
NM_014714.4(IFT140):c.2438A>C (p.Lys813Thr) rs1350594828 0.00001
NM_014714.4(IFT140):c.2447G>A (p.Arg816Gln) rs536061072 0.00001
NM_014714.4(IFT140):c.2455G>A (p.Val819Met) rs766515079 0.00001
NM_014714.4(IFT140):c.2485C>T (p.His829Tyr) rs921816941 0.00001
NM_014714.4(IFT140):c.2509C>T (p.Arg837Cys) rs754073086 0.00001
NM_014714.4(IFT140):c.2529G>A (p.Pro843=) rs1045253033 0.00001
NM_014714.4(IFT140):c.2536G>A (p.Glu846Lys) rs896477215 0.00001
NM_014714.4(IFT140):c.2545G>A (p.Val849Met) rs771662799 0.00001
NM_014714.4(IFT140):c.2577+10G>A rs763509815 0.00001
NM_014714.4(IFT140):c.2577+16C>A rs1168134505 0.00001
NM_014714.4(IFT140):c.2578-2A>G rs2040685752 0.00001
NM_014714.4(IFT140):c.2589G>A (p.Glu863=) rs765470612 0.00001
NM_014714.4(IFT140):c.2598C>G (p.Tyr866Ter) rs144513458 0.00001
NM_014714.4(IFT140):c.2619C>T (p.Asp873=) rs199762967 0.00001
NM_014714.4(IFT140):c.2646G>A (p.Ala882=) rs149265820 0.00001
NM_014714.4(IFT140):c.2661G>A (p.Glu887=) rs1287846996 0.00001
NM_014714.4(IFT140):c.2686G>A (p.Asp896Asn) rs775236964 0.00001
NM_014714.4(IFT140):c.2689C>T (p.Arg897Cys) rs769761601 0.00001
NM_014714.4(IFT140):c.2690G>A (p.Arg897His) rs745863942 0.00001
NM_014714.4(IFT140):c.2706C>T (p.Ser902=) rs533750683 0.00001
NM_014714.4(IFT140):c.2714A>G (p.His905Arg) rs1255418645 0.00001
NM_014714.4(IFT140):c.2718C>G (p.Arg906=) rs780540683 0.00001
NM_014714.4(IFT140):c.2751C>T (p.Cys917=) rs368887768 0.00001
NM_014714.4(IFT140):c.2758G>T (p.Ala920Ser) rs566450108 0.00001
NM_014714.4(IFT140):c.3165C>A (p.Leu1055=) rs1189584534 0.00001
NM_014714.4(IFT140):c.3204C>T (p.Ile1068=) rs764399101 0.00001
NM_014714.4(IFT140):c.3214C>T (p.Arg1072Ter) rs1432688490 0.00001
NM_014714.4(IFT140):c.3218A>G (p.Tyr1073Cys) rs777230794 0.00001
NM_014714.4(IFT140):c.3223G>A (p.Glu1075Lys) rs936261766 0.00001
NM_014714.4(IFT140):c.3226G>A (p.Glu1076Lys) rs773620301 0.00001
NM_014714.4(IFT140):c.3234C>T (p.Gly1078=) rs200748918 0.00001
NM_014714.4(IFT140):c.3251C>A (p.Ala1084Glu) rs757199524 0.00001
NM_014714.4(IFT140):c.3270+16C>T rs1482911649 0.00001
NM_014714.4(IFT140):c.3271-10G>A rs764938152 0.00001
NM_014714.4(IFT140):c.3271-17G>T rs1297843458 0.00001
NM_014714.4(IFT140):c.3301G>A (p.Ala1101Thr) rs760652531 0.00001
NM_014714.4(IFT140):c.3303C>T (p.Ala1101=) rs771939015 0.00001
NM_014714.4(IFT140):c.3327C>T (p.Ala1109=) rs1264860860 0.00001
NM_014714.4(IFT140):c.3336C>T (p.Leu1112=) rs372114503 0.00001
NM_014714.4(IFT140):c.3348C>A (p.Asp1116Glu) rs1438729385 0.00001
NM_014714.4(IFT140):c.3359C>T (p.Thr1120Met) rs756215215 0.00001
NM_014714.4(IFT140):c.3399C>T (p.Phe1133=) rs902953810 0.00001
NM_014714.4(IFT140):c.3402C>T (p.Ile1134=) rs761692949 0.00001
NM_014714.4(IFT140):c.3403G>A (p.Glu1135Lys) rs774170824 0.00001
NM_014714.4(IFT140):c.3418G>A (p.Glu1140Lys) rs564935788 0.00001
NM_014714.4(IFT140):c.3453+4C>T rs367744951 0.00001
NM_014714.4(IFT140):c.3470A>T (p.Gln1157Leu) rs772423904 0.00001
NM_014714.4(IFT140):c.3501C>T (p.Thr1167=) rs377319314 0.00001
NM_014714.4(IFT140):c.3512C>T (p.Ala1171Val) rs1158940284 0.00001
NM_014714.4(IFT140):c.3525C>G (p.Thr1175=) rs752664070 0.00001
NM_014714.4(IFT140):c.3563G>A (p.Arg1188Gln) rs780533679 0.00001
NM_014714.4(IFT140):c.3566G>A (p.Arg1189Gln) rs149837281 0.00001
NM_014714.4(IFT140):c.3581A>G (p.Gln1194Arg) rs754978656 0.00001
NM_014714.4(IFT140):c.3596G>A (p.Cys1199Tyr) rs535064774 0.00001
NM_014714.4(IFT140):c.3601C>T (p.Arg1201Cys) rs368685855 0.00001
NM_014714.4(IFT140):c.3633G>C (p.Lys1211Asn) rs771772194 0.00001
NM_014714.4(IFT140):c.3669G>A (p.Arg1223=) rs2040482751 0.00001
NM_014714.4(IFT140):c.3672G>A (p.Ala1224=) rs765766910 0.00001
NM_014714.4(IFT140):c.3685G>A (p.Gly1229Arg) rs1203959141 0.00001
NM_014714.4(IFT140):c.3704C>T (p.Thr1235Met) rs767997025 0.00001
NM_014714.4(IFT140):c.3705G>A (p.Thr1235=) rs748820042 0.00001
NM_014714.4(IFT140):c.3760C>T (p.Leu1254=) rs750847611 0.00001
NM_014714.4(IFT140):c.3762G>A (p.Leu1254=) rs1387148284 0.00001
NM_014714.4(IFT140):c.3767C>T (p.Ser1256Phe) rs1325819285 0.00001
NM_014714.4(IFT140):c.3788C>T (p.Pro1263Leu) rs775044452 0.00001
NM_014714.4(IFT140):c.3789G>A (p.Pro1263=) rs769211167 0.00001
NM_014714.4(IFT140):c.3810C>T (p.Ile1270=) rs557923123 0.00001
NM_014714.4(IFT140):c.3864T>C (p.Ala1288=) rs1181821502 0.00001
NM_014714.4(IFT140):c.3873+19A>G rs894285113 0.00001
NM_014714.4(IFT140):c.3874-1G>A rs749563050 0.00001
NM_014714.4(IFT140):c.3876G>A (p.Val1292=) rs986239975 0.00001
NM_014714.4(IFT140):c.3885T>C (p.Asp1295=) rs140443906 0.00001
NM_014714.4(IFT140):c.3912C>T (p.His1304=) rs143385994 0.00001
NM_014714.4(IFT140):c.3913G>A (p.Gly1305Arg) rs755596826 0.00001
NM_014714.4(IFT140):c.3918G>A (p.Ala1306=) rs767354864 0.00001
NM_014714.4(IFT140):c.3928G>A (p.Ala1310Thr) rs1055889482 0.00001
NM_014714.4(IFT140):c.3958A>G (p.Lys1320Glu) rs776809726 0.00001
NM_014714.4(IFT140):c.3966C>T (p.Pro1322=) rs181794285 0.00001
NM_014714.4(IFT140):c.3989C>T (p.Ala1330Val) rs376151586 0.00001
NM_014714.4(IFT140):c.4026C>T (p.Phe1342=) rs776522454 0.00001
NM_014714.4(IFT140):c.4040+20G>A rs758371286 0.00001
NM_014714.4(IFT140):c.4040+4T>A rs1402787371 0.00001
NM_014714.4(IFT140):c.4041-6C>T rs1596295050 0.00001
NM_014714.4(IFT140):c.4044G>A (p.Thr1348=) rs1034482228 0.00001
NM_014714.4(IFT140):c.4056C>T (p.Asp1352=) rs140265753 0.00001
NM_014714.4(IFT140):c.4073A>G (p.Lys1358Arg) rs763363588 0.00001
NM_014714.4(IFT140):c.4076A>G (p.Gln1359Arg) rs907401737 0.00001
NM_014714.4(IFT140):c.4104C>A (p.Asp1368Glu) rs746684542 0.00001
NM_014714.4(IFT140):c.4146G>A (p.Leu1382=) rs904518816 0.00001
NM_014714.4(IFT140):c.4172A>G (p.Glu1391Gly) rs1386350816 0.00001
NM_014714.4(IFT140):c.4182+18C>G rs371900494 0.00001
NM_014714.4(IFT140):c.4182+4A>C rs1439771269 0.00001
NM_014714.4(IFT140):c.4183-16T>G rs759566930 0.00001
NM_014714.4(IFT140):c.4195C>T (p.Leu1399=) rs910636195 0.00001
NM_014714.4(IFT140):c.4196T>C (p.Leu1399Pro) rs559371453 0.00001
NM_014714.4(IFT140):c.4200G>A (p.Glu1400=) rs986247813 0.00001
NM_014714.4(IFT140):c.4210C>T (p.Arg1404Trp) rs1465721813 0.00001
NM_014714.4(IFT140):c.4251G>A (p.Pro1417=) rs773095902 0.00001
NM_014714.4(IFT140):c.4257C>T (p.Ala1419=) rs535810761 0.00001
NM_014714.4(IFT140):c.4267G>A (p.Val1423Met) rs756711276 0.00001
NM_014714.4(IFT140):c.4278G>T (p.Gly1426=) rs200161877 0.00001
NM_014714.4(IFT140):c.4300A>G (p.Thr1434Ala) rs761959670 0.00001
NM_014714.4(IFT140):c.4338C>T (p.Asp1446=) rs779634878 0.00001
NM_014714.4(IFT140):c.4362G>T (p.Val1454=) rs763213109 0.00001
NM_014714.4(IFT140):c.4378G>A (p.Asp1460Asn) rs777181948 0.00001
GRCh37/hg19 16p13.3(chr16:1568167-1570859)x3
GRCh37/hg19 16p13.3(chr16:1568217-1570809)
GRCh38/hg38 16p13.3(chr16:1515602-1521308)x3
NC_000016.9:g.(?_1568197)_(1570829_?)dup
NC_000016.9:g.(?_1573499)_(1576817_?)dup
NC_000016.9:g.(?_1574533)_(1576817_?)del
NC_000016.9:g.(?_1607916)_(1608155_?)del
NC_000016.9:g.(?_1607916)_(1618355_?)dup
NC_000016.9:g.(?_1618198)_(1618355_?)del
NC_000016.9:g.(?_1621388)_(1621555_?)del
NC_000016.9:g.(?_1633295)_(1637325_?)del
NC_000016.9:g.(?_1639586)_(1642609_?)del
NM_014714.4(IFT140):c.*158G>C rs886051707
NM_014714.4(IFT140):c.*226T>G rs886051706
NM_014714.4(IFT140):c.*278C>A rs886051705
NM_014714.4(IFT140):c.*91G>T rs2040116815
NM_014714.4(IFT140):c.1525-19T>C
NM_014714.4(IFT140):c.1525-1G>A rs2034013225
NM_014714.4(IFT140):c.1525-2A>T rs2141634877
NM_014714.4(IFT140):c.1525-2_1525-1del
NM_014714.4(IFT140):c.1525-5_1525-3del rs757146365
NM_014714.4(IFT140):c.1525-74_1525-14del
NM_014714.4(IFT140):c.1528A>G (p.Thr510Ala)
NM_014714.4(IFT140):c.1529C>T (p.Thr510Ile)
NM_014714.4(IFT140):c.1530T>C (p.Thr510=) rs2141634694
NM_014714.4(IFT140):c.1535A>G (p.Lys512Arg) rs2141634655
NM_014714.4(IFT140):c.1541T>G (p.Leu514Arg) rs150903791
NM_014714.4(IFT140):c.1541_1542delinsAA (p.Leu514Gln) rs886043802
NM_014714.4(IFT140):c.1542CCT[1] (p.Leu516del)
NM_014714.4(IFT140):c.1568A>T (p.Asn523Ile)
NM_014714.4(IFT140):c.1582G>C (p.Asp528His)
NM_014714.4(IFT140):c.1593G>A (p.Gly531=)
NM_014714.4(IFT140):c.1597_1598insA (p.Phe533fs)
NM_014714.4(IFT140):c.1600C>T (p.Leu534=) rs747185980
NM_014714.4(IFT140):c.1605T>C (p.Val535=)
NM_014714.4(IFT140):c.1623T>G (p.Ala541=) rs1269165048
NM_014714.4(IFT140):c.1641T>G (p.Asp547Glu)
NM_014714.4(IFT140):c.1649G>C (p.Arg550Pro) rs762399912
NM_014714.4(IFT140):c.1652+13dup
NM_014714.4(IFT140):c.1652+18A>G
NM_014714.4(IFT140):c.1652+20_1652+33del rs2141632142
NM_014714.4(IFT140):c.1652+4A>G
NM_014714.4(IFT140):c.1652+5A>T rs1332507276
NM_014714.4(IFT140):c.1652+8T>G rs2141632572
NM_014714.4(IFT140):c.1653-10C>G rs2141597092
NM_014714.4(IFT140):c.1653-10del rs760597633
NM_014714.4(IFT140):c.1653-12del rs1466360910
NM_014714.4(IFT140):c.1653-4G>T rs750603473
NM_014714.4(IFT140):c.1653-7C>G
NM_014714.4(IFT140):c.1655_1656del
NM_014714.4(IFT140):c.1656G>A (p.Glu552=) rs1188167246
NM_014714.4(IFT140):c.1663G>A (p.Ala555Thr) rs1318199702
NM_014714.4(IFT140):c.1669T>C (p.Cys557Arg)
NM_014714.4(IFT140):c.1677C>G (p.Cys559Trp) rs2033834541
NM_014714.4(IFT140):c.1677C>T (p.Cys559=)
NM_014714.4(IFT140):c.1679G>A (p.Arg560Lys)
NM_014714.4(IFT140):c.1682G>T (p.Ser561Ile)
NM_014714.4(IFT140):c.1689G>A (p.Ala563=)
NM_014714.4(IFT140):c.1703G>A (p.Gly568Glu) rs768821637
NM_014714.4(IFT140):c.1707G>C (p.Val569=)
NM_014714.4(IFT140):c.1717G>A (p.Ala573Thr) rs528350505
NM_014714.4(IFT140):c.1717G>T (p.Ala573Ser) rs528350505
NM_014714.4(IFT140):c.1720T>C (p.Ser574Pro) rs2033831042
NM_014714.4(IFT140):c.1726C>A (p.Arg576=)
NM_014714.4(IFT140):c.1727G>C (p.Arg576Pro) rs373111085
NM_014714.4(IFT140):c.1732AGC[4] (p.Ser580dup) rs2141595569
NM_014714.4(IFT140):c.1734C>T (p.Ser578=)
NM_014714.4(IFT140):c.1737C>T (p.Ser579=) rs1230491407
NM_014714.4(IFT140):c.1739G>A (p.Ser580Asn) rs1019259823
NM_014714.4(IFT140):c.1739G>C (p.Ser580Thr) rs1019259823
NM_014714.4(IFT140):c.1752C>T (p.Ile584=) rs2141595363
NM_014714.4(IFT140):c.1753A>C (p.Ser585Arg)
NM_014714.4(IFT140):c.1767C>T (p.Ser589=)
NM_014714.4(IFT140):c.1770+15C>G rs374526643
NM_014714.4(IFT140):c.1770+15C>T
NM_014714.4(IFT140):c.1770+16G>A rs563911349
NM_014714.4(IFT140):c.1770+16G>T rs563911349
NM_014714.4(IFT140):c.1771-10C>T
NM_014714.4(IFT140):c.1771-5_1771-3del rs767298881
NM_014714.4(IFT140):c.1771G>A (p.Ala591Thr) rs751413638
NM_014714.4(IFT140):c.1782C>A (p.Ser594Arg) rs2033711810
NM_014714.4(IFT140):c.1792A>G (p.Lys598Glu) rs2141571032
NM_014714.4(IFT140):c.1795dup (p.Ile599fs) rs2141570994
NM_014714.4(IFT140):c.1806C>T (p.Tyr602=)
NM_014714.4(IFT140):c.1816A>G (p.Met606Val) rs1319739285
NM_014714.4(IFT140):c.1854A>C (p.Gln618His) rs765410918
NM_014714.4(IFT140):c.1858G>A (p.Asp620Asn)
NM_014714.4(IFT140):c.1859A>C (p.Asp620Ala)
NM_014714.4(IFT140):c.1866A>G (p.Arg622=)
NM_014714.4(IFT140):c.1867G>C (p.Glu623Gln)
NM_014714.4(IFT140):c.1871C>T (p.Thr624Met) rs891304446
NM_014714.4(IFT140):c.1872G>T (p.Thr624=) rs775156902
NM_014714.4(IFT140):c.1890A>G (p.Gln630=) rs2141569269
NM_014714.4(IFT140):c.1891G>A (p.Glu631Lys)
NM_014714.4(IFT140):c.1891G>C (p.Glu631Gln) rs777613696
NM_014714.4(IFT140):c.1898_1901del (p.Asn633fs) rs1555487977
NM_014714.4(IFT140):c.1901+14T>A
NM_014714.4(IFT140):c.1901+20G>A rs2033701264
NM_014714.4(IFT140):c.1901+8T>C
NM_014714.4(IFT140):c.1902-12T>G rs2033586818
NM_014714.4(IFT140):c.1902-7C>T rs2141543589
NM_014714.4(IFT140):c.1933A>G (p.Asn645Asp) rs540658203
NM_014714.4(IFT140):c.1937A>G (p.Tyr646Cys) rs762218450
NM_014714.4(IFT140):c.1945G>A (p.Val649Met) rs534052238
NM_014714.4(IFT140):c.1950C>T (p.Asn650=)
NM_014714.4(IFT140):c.1952A>G (p.His651Arg)
NM_014714.4(IFT140):c.1957T>C (p.Trp653Arg)
NM_014714.4(IFT140):c.1968_1969inv (p.Glu657Lys)
NM_014714.4(IFT140):c.1973C>T (p.Pro658Leu)
NM_014714.4(IFT140):c.1976G>T (p.Arg659Leu)
NM_014714.4(IFT140):c.1978C>A (p.Leu660Met) rs2033579292
NM_014714.4(IFT140):c.1989C>G (p.Cys663Trp) rs781117803
NM_014714.4(IFT140):c.1992_2005dup (p.Thr669fs) rs2141541431
NM_014714.4(IFT140):c.1996G>A (p.Val666Met)
NM_014714.4(IFT140):c.1998G>A (p.Val666=)
NM_014714.4(IFT140):c.2000A>G (p.Gln667Arg)
NM_014714.4(IFT140):c.2006C>T (p.Thr669Met)
NM_014714.4(IFT140):c.2007G>A (p.Thr669=)
NM_014714.4(IFT140):c.2011C>T (p.Arg671Cys)
NM_014714.4(IFT140):c.2016C>G (p.Ser672=)
NM_014714.4(IFT140):c.2021C>T (p.Pro674Leu) rs1240961381
NM_014714.4(IFT140):c.2023C>A (p.Gln675Lys) rs1202626787
NM_014714.4(IFT140):c.2030C>T (p.Ala677Val) rs1339244784
NM_014714.4(IFT140):c.2038C>T (p.Gln680Ter) rs2141540660
NM_014714.4(IFT140):c.2046A>G (p.Gln682=)
NM_014714.4(IFT140):c.2055C>T (p.Arg685=) rs201447957
NM_014714.4(IFT140):c.2056G>A (p.Ala686Thr)
NM_014714.4(IFT140):c.2058T>C (p.Ala686=) rs2033572500
NM_014714.4(IFT140):c.2067+4C>G rs111785408
NM_014714.4(IFT140):c.2067+8C>G
NM_014714.4(IFT140):c.2068-19A>G
NM_014714.4(IFT140):c.2068-2A>G rs1489989834
NM_014714.4(IFT140):c.2068-3C>G rs2033444839
NM_014714.4(IFT140):c.2068-7C>G
NM_014714.4(IFT140):c.2068-7C>T
NM_014714.4(IFT140):c.2068-8T>C
NM_014714.4(IFT140):c.2068-9C>T rs767007478
NM_014714.4(IFT140):c.2089TTC[1] (p.Phe698del) rs768883274
NM_014714.4(IFT140):c.2090T>C (p.Phe697Ser) rs1343501211
NM_014714.4(IFT140):c.2101G>A (p.Glu701Lys)
NM_014714.4(IFT140):c.2105A>G (p.Glu702Gly) rs2033441889
NM_014714.4(IFT140):c.2111G>A (p.Gly704Asp)
NM_014714.4(IFT140):c.2123A>G (p.His708Arg) rs2033440134
NM_014714.4(IFT140):c.2125G>A (p.Glu709Lys)
NM_014714.4(IFT140):c.2129G>T (p.Ser710Ile)
NM_014714.4(IFT140):c.2136C>A (p.Pro712=)
NM_014714.4(IFT140):c.2137C>T (p.Arg713Trp)
NM_014714.4(IFT140):c.2142T>C (p.Pro714=)
NM_014714.4(IFT140):c.2151C>G (p.Ser717=)
NM_014714.4(IFT140):c.2157T>C (p.Ser719=)
NM_014714.4(IFT140):c.2158C>G (p.Leu720Val) rs756482228
NM_014714.4(IFT140):c.2160C>A (p.Leu720=) rs751181187
NM_014714.4(IFT140):c.2174T>C (p.Val725Ala)
NM_014714.4(IFT140):c.2177C>A (p.Pro726His) rs1417500285
NM_014714.4(IFT140):c.2193A>G (p.Thr731=) rs2033435159
NM_014714.4(IFT140):c.2194A>G (p.Arg732Gly) rs2033435038
NM_014714.4(IFT140):c.2199+12C>T
NM_014714.4(IFT140):c.2199+20G>A
NM_014714.4(IFT140):c.2199+7A>G
NM_014714.4(IFT140):c.2199G>A (p.Lys733=) rs752216380
NM_014714.4(IFT140):c.2200-10T>C
NM_014714.4(IFT140):c.2200-14C>T rs1206714111
NM_014714.4(IFT140):c.2200-1_2200delinsAG
NM_014714.4(IFT140):c.2200C>T (p.Pro734Ser) rs1298153861
NM_014714.4(IFT140):c.2203G>A (p.Glu735Lys)
NM_014714.4(IFT140):c.2204A>G (p.Glu735Gly)
NM_014714.4(IFT140):c.2214C>T (p.Asp738=)
NM_014714.4(IFT140):c.2214_2217del (p.Asp738fs) rs1415763185
NM_014714.4(IFT140):c.2221G>A (p.Asp741Asn)
NM_014714.4(IFT140):c.2226G>A (p.Glu742=)
NM_014714.4(IFT140):c.2232G>A (p.Glu744=)
NM_014714.4(IFT140):c.2259G>A (p.Met753Ile) rs2033203151
NM_014714.4(IFT140):c.2273C>T (p.Pro758Leu)
NM_014714.4(IFT140):c.2274C>G (p.Pro758=)
NM_014714.4(IFT140):c.2278C>T (p.Arg760Ter) rs1555486629
NM_014714.4(IFT140):c.2287G>A (p.Val763Met)
NM_014714.4(IFT140):c.2292del (p.Leu765fs)
NM_014714.4(IFT140):c.2315C>T (p.Thr772Ile)
NM_014714.4(IFT140):c.2316C>T (p.Thr772=)
NM_014714.4(IFT140):c.2331C>T (p.Leu777=)
NM_014714.4(IFT140):c.2337C>T (p.Phe779=)
NM_014714.4(IFT140):c.2355A>G (p.Ile785Met) rs2033196611
NM_014714.4(IFT140):c.2359G>C (p.Asp787His)
NM_014714.4(IFT140):c.2366A>T (p.Asp789Val) rs1555486589
NM_014714.4(IFT140):c.2368G>A (p.Glu790Lys)
NM_014714.4(IFT140):c.2369A>T (p.Glu790Val)
NM_014714.4(IFT140):c.2372C>T (p.Ala791Val) rs758544371
NM_014714.4(IFT140):c.2373C>T (p.Ala791=) rs2141465212
NM_014714.4(IFT140):c.2375T>C (p.Phe792Ser) rs2033194698
NM_014714.4(IFT140):c.2392A>G (p.Ile798Val)
NM_014714.4(IFT140):c.2399+19G>C rs2033191634
NM_014714.4(IFT140):c.2399+6G>A
NM_014714.4(IFT140):c.2400-12G>A rs186193750
NM_014714.4(IFT140):c.2400-12G>C
NM_014714.4(IFT140):c.2400-16C>A
NM_014714.4(IFT140):c.2400-17C>T rs1245431866
NM_014714.4(IFT140):c.2400-1G>A
NM_014714.4(IFT140):c.2400-2A>G rs1555478654
NM_014714.4(IFT140):c.2400-3del rs1396232913
NM_014714.4(IFT140):c.2400-4A>G rs771174483
NM_014714.4(IFT140):c.2411G>A (p.Trp804Ter)
NM_014714.4(IFT140):c.2426G>A (p.Arg809His)
NM_014714.4(IFT140):c.2426G>C (p.Arg809Pro) rs780661065
NM_014714.4(IFT140):c.2427C>A (p.Arg809=)
NM_014714.4(IFT140):c.2432G>T (p.Cys811Phe) rs1358171484
NM_014714.4(IFT140):c.2434G>A (p.Val812Met)
NM_014714.4(IFT140):c.2434G>T (p.Val812Leu) rs569828117
NM_014714.4(IFT140):c.2442C>G (p.Thr814=)
NM_014714.4(IFT140):c.2443C>T (p.Gln815Ter) rs2141185231
NM_014714.4(IFT140):c.2446C>A (p.Arg816=) rs549813139
NM_014714.4(IFT140):c.2446C>T (p.Arg816Trp) rs549813139
NM_014714.4(IFT140):c.2458G>A (p.Ala820Thr) rs2141185138
NM_014714.4(IFT140):c.2475G>T (p.Gly825=)
NM_014714.4(IFT140):c.2479A>G (p.Met827Val) rs372141549
NM_014714.4(IFT140):c.2480T>C (p.Met827Thr)
NM_014714.4(IFT140):c.2483del (p.Gly828fs)
NM_014714.4(IFT140):c.2494G>A (p.Gly832Arg)
NM_014714.4(IFT140):c.2500C>A (p.Arg834=)
NM_014714.4(IFT140):c.2500C>G (p.Arg834Gly)
NM_014714.4(IFT140):c.2500C>T (p.Arg834Ter) rs777399400
NM_014714.4(IFT140):c.2504C>G (p.Ala835Gly) rs368232950
NM_014714.4(IFT140):c.2517G>T (p.Ala839=)
NM_014714.4(IFT140):c.2519A>G (p.Glu840Gly)
NM_014714.4(IFT140):c.2526G>C (p.Glu842Asp)
NM_014714.4(IFT140):c.2527C>A (p.Pro843Thr) rs1567331532
NM_014714.4(IFT140):c.2530G>A (p.Glu844Lys)
NM_014714.4(IFT140):c.2542C>A (p.Arg848Ser)
NM_014714.4(IFT140):c.2550C>G (p.Ala850=) rs2745180
NM_014714.4(IFT140):c.2554C>G (p.Leu852Val)
NM_014714.4(IFT140):c.2554C>T (p.Leu852=) rs779954025
NM_014714.4(IFT140):c.2564A>G (p.Gln855Arg)
NM_014714.4(IFT140):c.2565G>A (p.Gln855=)
NM_014714.4(IFT140):c.2572A>T (p.Met858Leu)
NM_014714.4(IFT140):c.2577+11C>T
NM_014714.4(IFT140):c.2577+13del rs1487210393
NM_014714.4(IFT140):c.2577+14G>A
NM_014714.4(IFT140):c.2577+25G>A rs1423102192
NM_014714.4(IFT140):c.2577+3G>A
NM_014714.4(IFT140):c.2577+4A>T rs2141184162
NM_014714.4(IFT140):c.2577+8G>T
NM_014714.4(IFT140):c.2578-10C>T
NM_014714.4(IFT140):c.2578-13C>T rs886051723
NM_014714.4(IFT140):c.2578-15A>G
NM_014714.4(IFT140):c.2578-19G>A
NM_014714.4(IFT140):c.2578-8T>C rs781483603
NM_014714.4(IFT140):c.2585C>T (p.Ala862Val)
NM_014714.4(IFT140):c.2612G>A (p.Arg871His) rs905240853
NM_014714.4(IFT140):c.2616C>T (p.His872=) rs761615768
NM_014714.4(IFT140):c.2617G>C (p.Asp873His) rs560840162
NM_014714.4(IFT140):c.2627A>G (p.Asn876Ser) rs775517181
NM_014714.4(IFT140):c.2628C>A (p.Asn876Lys) rs2040683256
NM_014714.4(IFT140):c.2628C>T (p.Asn876=)
NM_014714.4(IFT140):c.2634C>T (p.Phe878=)
NM_014714.4(IFT140):c.2636A>G (p.Tyr879Cys)
NM_014714.4(IFT140):c.2646G>C (p.Ala882=)
NM_014714.4(IFT140):c.2648G>T (p.Gly883Val)
NM_014714.4(IFT140):c.2650C>G (p.Arg884Gly) rs554196965
NM_014714.4(IFT140):c.2655del (p.Trp885fs) rs762111572
NM_014714.4(IFT140):c.2656C>T (p.Gln886Ter) rs1567330535
NM_014714.4(IFT140):c.2671G>A (p.Val891Ile)
NM_014714.4(IFT140):c.2671del (p.Gln890_Val891insTer) rs2141179932
NM_014714.4(IFT140):c.2676C>T (p.Ala892=) rs377016838
NM_014714.4(IFT140):c.2677G>T (p.Glu893Ter) rs372746686
NM_014714.4(IFT140):c.2679G>A (p.Glu893=)
NM_014714.4(IFT140):c.2681A>G (p.His894Arg)
NM_014714.4(IFT140):c.2682C>A (p.His894Gln) rs774192784
NM_014714.4(IFT140):c.2682_2683insA (p.His895fs) rs776988446
NM_014714.4(IFT140):c.2682delinsAA (p.His894fs)
NM_014714.4(IFT140):c.2685C>T (p.His895=) rs762560105
NM_014714.4(IFT140):c.2694G>A (p.Val898=) rs1555478342
NM_014714.4(IFT140):c.2698C>T (p.Leu900=)
NM_014714.4(IFT140):c.2704A>C (p.Ser902Arg)
NM_014714.4(IFT140):c.2704A>G (p.Ser902Gly) rs1433656005
NM_014714.4(IFT140):c.2709C>T (p.Thr903=) rs1460776036
NM_014714.4(IFT140):c.2712C>T (p.Tyr904=) rs1188805365
NM_014714.4(IFT140):c.2716C>T (p.Arg906Cys) rs755504361
NM_014714.4(IFT140):c.2744C>T (p.Ala915Val)
NM_014714.4(IFT140):c.2755C>A (p.Arg919=)
NM_014714.4(IFT140):c.2755C>G (p.Arg919Gly) rs548992623
NM_014714.4(IFT140):c.2764A>G (p.Ser922Gly)
NM_014714.4(IFT140):c.2767_2768+2del rs769075694
NM_014714.4(IFT140):c.2768+11C>G rs1330666788
NM_014714.4(IFT140):c.2768+15C>G rs546649507
NM_014714.4(IFT140):c.2768+15C>T rs546649507
NM_014714.4(IFT140):c.2768+16G>A
NM_014714.4(IFT140):c.2768+19G>A
NM_014714.4(IFT140):c.2768+8C>T rs1044252490
NM_014714.4(IFT140):c.3142-14C>T
NM_014714.4(IFT140):c.3142_3144del rs754866110
NM_014714.4(IFT140):c.3157G>A (p.Asp1053Asn) rs148194893
NM_014714.4(IFT140):c.3164T>C (p.Leu1055Pro)
NM_014714.4(IFT140):c.3176C>T (p.Ala1059Val) rs779603114
NM_014714.4(IFT140):c.3188C>T (p.Ser1063Phe)
NM_014714.4(IFT140):c.3189C>G (p.Ser1063=) rs2141166224
NM_014714.4(IFT140):c.3190C>G (p.Pro1064Ala)
NM_014714.4(IFT140):c.3192C>T (p.Pro1064=)
NM_014714.4(IFT140):c.3192del (p.Glu1065fs) rs1567327347
NM_014714.4(IFT140):c.3195G>A (p.Glu1065=) rs2040596493
NM_014714.4(IFT140):c.3201G>A (p.Met1067Ile)
NM_014714.4(IFT140):c.3203T>C (p.Ile1068Thr)
NM_014714.4(IFT140):c.3207G>T (p.Glu1069Asp)
NM_014714.4(IFT140):c.3212C>T (p.Ala1071Val) rs2040595876
NM_014714.4(IFT140):c.3215G>A (p.Arg1072Gln) rs201884886
NM_014714.4(IFT140):c.3216A>G (p.Arg1072=)
NM_014714.4(IFT140):c.3219C>T (p.Tyr1073=)
NM_014714.4(IFT140):c.3222C>T (p.Tyr1074=)
NM_014714.4(IFT140):c.3223GAG[1] (p.Glu1076del)
NM_014714.4(IFT140):c.3243G>A (p.Met1081Ile)
NM_014714.4(IFT140):c.3245A>T (p.Asp1082Val) rs781204391
NM_014714.4(IFT140):c.3246C>T (p.Asp1082=)
NM_014714.4(IFT140):c.3250_3253dup (p.Val1085fs) rs766084603
NM_014714.4(IFT140):c.3251C>T (p.Ala1084Val)
NM_014714.4(IFT140):c.3269A>G (p.Lys1090Arg) rs1007805827
NM_014714.4(IFT140):c.3270+14A>G
NM_014714.4(IFT140):c.3270+15C>G
NM_014714.4(IFT140):c.3270+17G>A
NM_014714.4(IFT140):c.3270+19_3270+20inv
NM_014714.4(IFT140):c.3270+9T>G
NM_014714.4(IFT140):c.3271-18A>G
NM_014714.4(IFT140):c.3272C>G (p.Ala1091Gly)
NM_014714.4(IFT140):c.3273T>C (p.Ala1091=)
NM_014714.4(IFT140):c.3291C>G (p.Ala1097=)
NM_014714.4(IFT140):c.3312C>T (p.Thr1104=) rs2040588187
NM_014714.4(IFT140):c.3313C>T (p.Gln1105Ter)
NM_014714.4(IFT140):c.3322G>A (p.Val1108Met) rs2040587996
NM_014714.4(IFT140):c.3323T>C (p.Val1108Ala)
NM_014714.4(IFT140):c.3364G>A (p.Asp1122Asn)
NM_014714.4(IFT140):c.3368C>T (p.Pro1123Leu) rs781672845
NM_014714.4(IFT140):c.3369T>C (p.Pro1123=)
NM_014714.4(IFT140):c.3372G>A (p.Ala1124=)
NM_014714.4(IFT140):c.3373C>T (p.Leu1125Phe) rs1596302305
NM_014714.4(IFT140):c.3375C>A (p.Leu1125=)
NM_014714.4(IFT140):c.3375C>T (p.Leu1125=) rs1478734815
NM_014714.4(IFT140):c.3377T>C (p.Leu1126Pro)
NM_014714.4(IFT140):c.3381C>G (p.Ala1127=)
NM_014714.4(IFT140):c.3385T>C (p.Cys1129Arg) rs886051709
NM_014714.4(IFT140):c.3394TTC[1] (p.Phe1133del) rs2040585460
NM_014714.4(IFT140):c.3404A>G (p.Glu1135Gly) rs2141164034
NM_014714.4(IFT140):c.3408_3409del (p.His1136fs) rs765669703
NM_014714.4(IFT140):c.3413_3414delinsTA (p.Gln1138Leu) rs1567326635
NM_014714.4(IFT140):c.3417C>T (p.Tyr1139=) rs572040196
NM_014714.4(IFT140):c.3420G>A (p.Glu1140=)
NM_014714.4(IFT140):c.3422G>A (p.Arg1141Lys)
NM_014714.4(IFT140):c.3425C>T (p.Ala1142Val) rs370255916
NM_014714.4(IFT140):c.3430_3431delinsAT (p.Glu1144Met)
NM_014714.4(IFT140):c.3433C>T (p.Leu1145=)
NM_014714.4(IFT140):c.3450G>A (p.Arg1150=)
NM_014714.4(IFT140):c.3453+13C>T
NM_014714.4(IFT140):c.3453+15G>A
NM_014714.4(IFT140):c.3453+20T>G
NM_014714.4(IFT140):c.3453+5G>A
NM_014714.4(IFT140):c.3454-1003_4040+737delinsC
NM_014714.4(IFT140):c.3454-19C>T
NM_014714.4(IFT140):c.3454-20C>A rs2141148514
NM_014714.4(IFT140):c.3454-488_4182+2588dup
NM_014714.4(IFT140):c.3454-4G>C
NM_014714.4(IFT140):c.3454-8C>T rs892113982
NM_014714.4(IFT140):c.3454T>C (p.Tyr1152His)
NM_014714.4(IFT140):c.3489del (p.Asn1163fs) rs2141148172
NM_014714.4(IFT140):c.3496A>G (p.Ile1166Val)
NM_014714.4(IFT140):c.3497T>C (p.Ile1166Thr) rs1294933019
NM_014714.4(IFT140):c.3499A>G (p.Thr1167Ala) rs1433941335
NM_014714.4(IFT140):c.3500C>T (p.Thr1167Ile)
NM_014714.4(IFT140):c.3502G>T (p.Glu1168Ter)
NM_014714.4(IFT140):c.3507G>C (p.Glu1169Asp) rs1480279504
NM_014714.4(IFT140):c.3513G>A (p.Ala1171=) rs763709094
NM_014714.4(IFT140):c.3513G>T (p.Ala1171=)
NM_014714.4(IFT140):c.3521T>C (p.Met1174Thr)
NM_014714.4(IFT140):c.3525C>T (p.Thr1175=) rs752664070
NM_014714.4(IFT140):c.3526G>T (p.Val1176Leu)
NM_014714.4(IFT140):c.3528G>A (p.Val1176=)
NM_014714.4(IFT140):c.3535G>T (p.Asp1179Tyr) rs1332512487
NM_014714.4(IFT140):c.3543G>C (p.Ser1181=)
NM_014714.4(IFT140):c.3552T>C (p.Pro1184=)
NM_014714.4(IFT140):c.3561G>A (p.Ser1187=) rs769082969
NM_014714.4(IFT140):c.3561G>C (p.Ser1187=) rs769082969
NM_014714.4(IFT140):c.3562C>A (p.Arg1188=)
NM_014714.4(IFT140):c.3565C>A (p.Arg1189=)
NM_014714.4(IFT140):c.3566G>T (p.Arg1189Leu) rs149837281
NM_014714.4(IFT140):c.3576G>A (p.Leu1192=) rs2141147573
NM_014714.4(IFT140):c.3579G>A (p.Glu1193=)
NM_014714.4(IFT140):c.3587C>T (p.Ala1196Val) rs760756337
NM_014714.4(IFT140):c.3598A>G (p.Met1200Val) rs566568065
NM_014714.4(IFT140):c.3602G>T (p.Arg1201Leu) rs147292597
NM_014714.4(IFT140):c.3609C>T (p.Gly1203=) rs2040497930
NM_014714.4(IFT140):c.3615C>T (p.Tyr1205=)
NM_014714.4(IFT140):c.3617A>G (p.His1206Arg)
NM_014714.4(IFT140):c.3624C>T (p.Ala1208=)
NM_014714.4(IFT140):c.3640C>T (p.Gln1214Ter) rs2141147087
NM_014714.4(IFT140):c.3644C>G (p.Ala1215Gly) rs139871912
NM_014714.4(IFT140):c.3655C>T (p.Leu1219=)
NM_014714.4(IFT140):c.3660+13C>G
NM_014714.4(IFT140):c.3660+13C>T rs767836990
NM_014714.4(IFT140):c.3661-14G>C
NM_014714.4(IFT140):c.3661-17G>A
NM_014714.4(IFT140):c.3661-20C>T rs1237006550
NM_014714.4(IFT140):c.3668G>A (p.Arg1223Lys) rs751861503
NM_014714.4(IFT140):c.3670G>A (p.Ala1224Thr) rs373377650
NM_014714.4(IFT140):c.3672_3673del (p.Leu1225fs) rs754400742
NM_014714.4(IFT140):c.3682T>C (p.Ser1228Pro) rs991385327
NM_014714.4(IFT140):c.3691_3692del (p.Thr1231fs) rs2141145188
NM_014714.4(IFT140):c.3692C>T (p.Thr1231Met)
NM_014714.4(IFT140):c.3712G>A (p.Ala1238Thr) rs376953801
NM_014714.4(IFT140):c.3717C>T (p.Ser1239=)
NM_014714.4(IFT140):c.3726G>A (p.Arg1242=) rs1023280480
NM_014714.4(IFT140):c.3727C>T (p.Gln1243Ter) rs2141144931
NM_014714.4(IFT140):c.3739T>C (p.Tyr1247His)
NM_014714.4(IFT140):c.3749C>T (p.Ala1250Val)
NM_014714.4(IFT140):c.3758A>G (p.Tyr1253Cys) rs2141144779
NM_014714.4(IFT140):c.3770T>C (p.Leu1257Pro) rs1470679979
NM_014714.4(IFT140):c.3792G>A (p.Glu1264=)
NM_014714.4(IFT140):c.3810C>G (p.Ile1270Met) rs557923123
NM_014714.4(IFT140):c.3811G>A (p.Gly1271Ser)
NM_014714.4(IFT140):c.3833C>A (p.Ala1278Asp) rs147280047
NM_014714.4(IFT140):c.3833C>T (p.Ala1278Val)
NM_014714.4(IFT140):c.3843C>G (p.Leu1281=)
NM_014714.4(IFT140):c.3862G>A (p.Ala1288Thr)
NM_014714.4(IFT140):c.3862G>C (p.Ala1288Pro)
NM_014714.4(IFT140):c.3869C>T (p.Ala1290Val)
NM_014714.4(IFT140):c.3873+16G>C rs2141143932
NM_014714.4(IFT140):c.3873+17G>A
NM_014714.4(IFT140):c.3874-10A>T
NM_014714.4(IFT140):c.3874-18C>T
NM_014714.4(IFT140):c.3874-7T>C rs2141143432
NM_014714.4(IFT140):c.3874-8C>T
NM_014714.4(IFT140):c.3874G>A (p.Val1292Met) rs2141143375
NM_014714.4(IFT140):c.3877_3879del (p.Glu1293del) rs1413533372
NM_014714.4(IFT140):c.3879G>A (p.Glu1293=) rs2040472652
NM_014714.4(IFT140):c.3879G>T (p.Glu1293Asp) rs2040472652
NM_014714.4(IFT140):c.3891C>A (p.Tyr1297Ter)
NM_014714.4(IFT140):c.3898T>C (p.Tyr1300His)
NM_014714.4(IFT140):c.3909C>G (p.Ala1303=)
NM_014714.4(IFT140):c.3916dup (p.Ala1306fs) rs587776909
NM_014714.4(IFT140):c.3924C>T (p.Thr1308=)
NM_014714.4(IFT140):c.3935A>G (p.Lys1312Arg)
NM_014714.4(IFT140):c.3942G>A (p.Leu1314=)
NM_014714.4(IFT140):c.3943GCCAAG[2] (p.1315AK[2]) rs746697405
NM_014714.4(IFT140):c.3943GCCAAG[4] (p.1315AK[4]) rs746697405
NM_014714.4(IFT140):c.3953A>G (p.Lys1318Arg) rs2141142851
NM_014714.4(IFT140):c.3955G>A (p.Ala1319Thr) rs2141142844
NM_014714.4(IFT140):c.3956C>T (p.Ala1319Val) rs2040470204
NM_014714.4(IFT140):c.3963C>T (p.Ser1321=)
NM_014714.4(IFT140):c.3981del (p.Arg1328fs) rs1431530916
NM_014714.4(IFT140):c.4020G>A (p.Lys1340=) rs759849021
NM_014714.4(IFT140):c.4022G>C (p.Arg1341Thr) rs1054102092
NM_014714.4(IFT140):c.4027A>G (p.Ile1343Val) rs771070134
NM_014714.4(IFT140):c.4040+12G>A
NM_014714.4(IFT140):c.4040+13G>C
NM_014714.4(IFT140):c.4040+14G>T
NM_014714.4(IFT140):c.4040+3G>A
NM_014714.4(IFT140):c.4040+3G>T rs779462689
NM_014714.4(IFT140):c.4041-11G>A rs1385552425
NM_014714.4(IFT140):c.4041-11G>C
NM_014714.4(IFT140):c.4041-15C>G
NM_014714.4(IFT140):c.4041-18C>G rs373126808
NM_014714.4(IFT140):c.4041-19T>C
NM_014714.4(IFT140):c.4041-2A>G
NM_014714.4(IFT140):c.4041-9T>C rs2141135557
NM_014714.4(IFT140):c.4058C>G (p.Pro1353Arg) rs146666187
NM_014714.4(IFT140):c.4059C>A (p.Pro1353=)
NM_014714.4(IFT140):c.4059C>G (p.Pro1353=)
NM_014714.4(IFT140):c.4077G>T (p.Gln1359His) rs1387346251
NM_014714.4(IFT140):c.4078T>C (p.Cys1360Arg) rs431905520
NM_014714.4(IFT140):c.4093G>A (p.Glu1365Lys)
NM_014714.4(IFT140):c.4104C>T (p.Asp1368=)
NM_014714.4(IFT140):c.4119C>T (p.Ile1373=)
NM_014714.4(IFT140):c.4121G>A (p.Arg1374His) rs778892732
NM_014714.4(IFT140):c.4123A>G (p.Ile1375Val) rs1258339035
NM_014714.4(IFT140):c.4126G>A (p.Gly1376Arg)
NM_014714.4(IFT140):c.4132G>A (p.Val1378Ile)
NM_014714.4(IFT140):c.4136A>T (p.Tyr1379Phe)
NM_014714.4(IFT140):c.4143C>T (p.Phe1381=)
NM_014714.4(IFT140):c.4145T>A (p.Leu1382Gln) rs1454067964
NM_014714.4(IFT140):c.4149G>A (p.Val1383=)
NM_014714.4(IFT140):c.4150G>T (p.Glu1384Ter)
NM_014714.4(IFT140):c.4159G>A (p.Val1387Met) rs142668269
NM_014714.4(IFT140):c.4159G>T (p.Val1387Leu) rs142668269
NM_014714.4(IFT140):c.4166A>G (p.Lys1389Arg)
NM_014714.4(IFT140):c.4179G>C (p.Gln1393His) rs2040419700
NM_014714.4(IFT140):c.4180_4182+12del
NM_014714.4(IFT140):c.4182+14G>A
NM_014714.4(IFT140):c.4182+20C>G
NM_014714.4(IFT140):c.4183-11C>T rs776525322
NM_014714.4(IFT140):c.4183-12C>G
NM_014714.4(IFT140):c.4183-12C>T rs1486803523
NM_014714.4(IFT140):c.4183-14C>A
NM_014714.4(IFT140):c.4183-19G>A
NM_014714.4(IFT140):c.4183-21_4183-20dup
NM_014714.4(IFT140):c.4183-6C>T rs1461505278
NM_014714.4(IFT140):c.4187A>G (p.Tyr1396Cys) rs2040132765
NM_014714.4(IFT140):c.4190G>A (p.Arg1397Lys)
NM_014714.4(IFT140):c.4201G>C (p.Glu1401Gln) rs2040132121
NM_014714.4(IFT140):c.4203G>A (p.Glu1401=)
NM_014714.4(IFT140):c.4204A>G (p.Met1402Val)
NM_014714.4(IFT140):c.4207del (p.Arg1403fs)
NM_014714.4(IFT140):c.4208G>T (p.Arg1403Leu)
NM_014714.4(IFT140):c.4208GGC[2] (p.Arg1405del) rs754312950
NM_014714.4(IFT140):c.4208GGC[4] (p.Arg1405dup) rs754312950
NM_014714.4(IFT140):c.4209G>A (p.Arg1403=)
NM_014714.4(IFT140):c.4211G>A (p.Arg1404Gln)
NM_014714.4(IFT140):c.4220C>T (p.Pro1407Leu) rs2141089845
NM_014714.4(IFT140):c.4221C>A (p.Pro1407=) rs544908970
NM_014714.4(IFT140):c.4227C>G (p.Ala1409=) rs143920103
NM_014714.4(IFT140):c.4227C>T (p.Ala1409=)
NM_014714.4(IFT140):c.4228A>G (p.Asn1410Asp)
NM_014714.4(IFT140):c.4231A>C (p.Met1411Leu)
NM_014714.4(IFT140):c.4232T>C (p.Met1411Thr) rs752233693
NM_014714.4(IFT140):c.4242C>A (p.Tyr1414Ter)
NM_014714.4(IFT140):c.4242C>T (p.Tyr1414=)
NM_014714.4(IFT140):c.4254G>A (p.Gln1418=)
NM_014714.4(IFT140):c.4258G>A (p.Val1420Met)
NM_014714.4(IFT140):c.4270C>T (p.His1424Tyr)
NM_014714.4(IFT140):c.4272C>A (p.His1424Gln) rs781658694
NM_014714.4(IFT140):c.4273C>T (p.Arg1425Trp) rs138697817
NM_014714.4(IFT140):c.4277G>A (p.Gly1426Glu) rs886051708
NM_014714.4(IFT140):c.4277G>T (p.Gly1426Val)
NM_014714.4(IFT140):c.4278G>A (p.Gly1426=)
NM_014714.4(IFT140):c.4299C>G (p.Arg1433=)
NM_014714.4(IFT140):c.4308C>T (p.Pro1436=)
NM_014714.4(IFT140):c.4320C>T (p.Arg1440=)
NM_014714.4(IFT140):c.4330A>G (p.Met1444Val) rs547804955
NM_014714.4(IFT140):c.4339G>A (p.Ala1447Thr)
NM_014714.4(IFT140):c.4341del (p.Arg1448fs) rs1209319873
NM_014714.4(IFT140):c.4347_4367del (p.Leu1450_Glu1456del) rs760889117
NM_014714.4(IFT140):c.4353C>T (p.Asp1451=)
NM_014714.4(IFT140):c.4366G>A (p.Glu1456Lys) rs1386131080
NM_014714.4(IFT140):c.4386_4387del (p.Ter1463ArgextTer?) rs2040120370
NM_014714.4(IFT140):c.4388G>A (p.Ter1463=) rs1299854506
NM_014714.4:c.(?_-1)_(*1_?)del

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