ClinVar Miner

List of variants studied for acromelic dysplasia by Invitae

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1955
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HGVS dbSNP gnomAD frequency
NM_014714.4(IFT140):c.3270+19T>C rs2745176 0.96626
NM_014714.4(IFT140):c.1968T>C (p.Ser656=) rs8048410 0.42981
NM_014714.4(IFT140):c.2253T>C (p.Pro751=) rs2076436 0.30184
NM_014714.4(IFT140):c.2919C>T (p.Ala973=) rs2235640 0.19119
NM_014714.4(IFT140):c.635-12G>C rs12447357 0.18304
NM_014112.5(TRPS1):c.423G>T (p.Pro141=) rs7823278 0.13335
NM_014714.4(IFT140):c.1192G>A (p.Val398Ile) rs34762152 0.08326
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_014112.5(TRPS1):c.2700+10T>C rs76046106 0.03410
NM_014714.4(IFT140):c.1352C>T (p.Ala451Val) rs8060532 0.02699
NM_014714.4(IFT140):c.1682G>A (p.Ser561Asn) rs8050974 0.02675
NM_014714.4(IFT140):c.492-14G>A rs75359189 0.02409
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.839G>A (p.Arg280Gln) rs35404373 0.02210
NM_014714.4(IFT140):c.2008C>T (p.Pro670Ser) rs34900355 0.02198
NM_014714.4(IFT140):c.838C>T (p.Arg280Trp) rs8058674 0.01985
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_014112.5(TRPS1):c.1788T>C (p.Tyr596=) rs34094363 0.01557
NM_014112.5(TRPS1):c.2766G>A (p.Lys922=) rs34786438 0.01390
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.322G>A (p.Val108Met) rs146128830 0.00695
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.1524+3A>G rs149791451 0.00552
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.2988T>C (p.Asn996=) rs78178397 0.00290
NM_014714.4(IFT140):c.492-20C>T rs149012740 0.00273
NM_014714.4(IFT140):c.1524+14C>G rs369481491 0.00241
NM_014714.4(IFT140):c.3079G>A (p.Gly1027Arg) rs137995818 0.00236
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.1336A>G (p.Ile446Val) rs139619013 0.00196
NM_014112.5(TRPS1):c.816G>A (p.Glu272=) rs7016652 0.00169
NM_014714.4(IFT140):c.3993G>C (p.Gln1331His) rs35823417 0.00168
NM_014112.5(TRPS1):c.1195C>T (p.Leu399Phe) rs147432147 0.00163
NM_014714.4(IFT140):c.4040+15C>G rs373703197 0.00160
NM_014112.5(TRPS1):c.2658G>T (p.Ser886=) rs191525942 0.00158
NM_014112.5(TRPS1):c.2823+15C>A rs201296334 0.00143
NM_014112.5(TRPS1):c.1544C>T (p.Ser515Leu) rs142784032 0.00134
NM_014714.4(IFT140):c.2067+12C>T rs201954701 0.00129
NM_014714.4(IFT140):c.1359+12G>C rs150859038 0.00125
NM_014714.4(IFT140):c.1574G>C (p.Cys525Ser) rs112545558 0.00122
NM_014714.4(IFT140):c.546C>T (p.Asp182=) rs150014480 0.00120
NM_014112.5(TRPS1):c.355A>T (p.Thr119Ser) rs201373462 0.00117
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_014112.5(TRPS1):c.2485C>G (p.Pro829Ala) rs78472570 0.00088
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.758G>A (p.Arg253Gln) rs141993139 0.00081
NM_014714.4(IFT140):c.1788T>C (p.Asp596=) rs148904634 0.00079
NM_014714.4(IFT140):c.1083C>T (p.Pro361=) rs143014223 0.00077
NM_014112.5(TRPS1):c.2976G>A (p.Pro992=) rs201030937 0.00076
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_014112.5(TRPS1):c.1164A>G (p.Ser388=) rs138244006 0.00061
NM_014714.4(IFT140):c.1084G>A (p.Gly362Arg) rs182052267 0.00061
NM_014112.5(TRPS1):c.3328C>T (p.Leu1110Phe) rs148023627 0.00059
NM_014112.5(TRPS1):c.2223G>A (p.Glu741=) rs199732237 0.00056
NM_014714.4(IFT140):c.3141+14G>A rs372698828 0.00051
NM_014714.4(IFT140):c.4273C>A (p.Arg1425=) rs138697817 0.00051
NM_014112.5(TRPS1):c.1083C>T (p.Thr361=) rs143724802 0.00050
NM_014112.5(TRPS1):c.2701-13T>C rs748717384 0.00050
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_014112.5(TRPS1):c.1171A>C (p.Asn391His) rs368184534 0.00045
NM_014714.4(IFT140):c.491+7G>A rs187521755 0.00045
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_014112.5(TRPS1):c.2645A>G (p.Gln882Arg) rs369004633 0.00041
NM_014112.5(TRPS1):c.967-14C>T rs200044397 0.00041
NM_014714.4(IFT140):c.2110G>A (p.Gly704Ser) rs150745099 0.00040
NM_014714.4(IFT140):c.3661-18C>T rs575501010 0.00039
NM_014112.5(TRPS1):c.2701-9_2701-8del rs368655299 0.00038
NM_014714.4(IFT140):c.2829G>A (p.Pro943=) rs141779807 0.00038
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_014112.5(TRPS1):c.2460C>T (p.Thr820=) rs373410728 0.00035
NM_014714.4(IFT140):c.1359+20G>A rs374488263 0.00035
NM_014112.5(TRPS1):c.3015C>G (p.His1005Gln) rs199839411 0.00034
NM_014112.5(TRPS1):c.665A>G (p.Asn222Ser) rs61745721 0.00034
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.2586C>T (p.Ala862=) rs148557575 0.00031
NM_014714.4(IFT140):c.2768+18G>A rs143663088 0.00030
NM_014112.5(TRPS1):c.3202G>A (p.Val1068Ile) rs200107935 0.00029
NM_014714.4(IFT140):c.3426G>A (p.Ala1142=) rs202224171 0.00029
NM_014714.4(IFT140):c.1422A>G (p.Ile474Met) rs559293157 0.00027
NM_014714.4(IFT140):c.925G>A (p.Glu309Lys) rs141993646 0.00027
NM_014112.5(TRPS1):c.170A>G (p.Glu57Gly) rs201770819 0.00026
NM_014112.5(TRPS1):c.310C>T (p.Pro104Ser) rs200964070 0.00026
NM_014714.4(IFT140):c.1331T>C (p.Met444Thr) rs148663745 0.00026
NM_014714.4(IFT140):c.3532A>G (p.Lys1178Glu) rs538114464 0.00025
NM_014112.5(TRPS1):c.2793C>T (p.Asn931=) rs376942817 0.00024
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.179G>A (p.Arg60Lys) rs148093208 0.00022
NM_014714.4(IFT140):c.3033G>A (p.Ala1011=) rs148625428 0.00021
NM_014714.4(IFT140):c.3271-4G>A rs200815296 0.00021
NM_014714.4(IFT140):c.410G>A (p.Arg137Gln) rs145718272 0.00021
NM_014714.4(IFT140):c.4144C>T (p.Leu1382=) rs139458566 0.00021
NM_014714.4(IFT140):c.561G>T (p.Lys187Asn) rs139286030 0.00021
NM_014714.4(IFT140):c.1230G>A (p.Ser410=) rs199840711 0.00020
NM_014112.5(TRPS1):c.1008A>G (p.Thr336=) rs749317963 0.00019
NM_014714.4(IFT140):c.1417G>A (p.Ala473Thr) rs149642543 0.00019
NM_014714.4(IFT140):c.2787G>A (p.Thr929=) rs374661866 0.00019
NM_014714.4(IFT140):c.4381G>A (p.Asp1461Asn) rs201065562 0.00019
NM_014714.4(IFT140):c.2922G>A (p.Ala974=) rs201864536 0.00018
NM_014714.4(IFT140):c.3543G>A (p.Ser1181=) rs377427370 0.00018
NM_014714.4(IFT140):c.1524+8G>A rs369331038 0.00017
NM_014112.5(TRPS1):c.2441G>T (p.Arg814Leu) rs146506752 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_014112.5(TRPS1):c.515A>G (p.Lys172Arg) rs775998078 0.00014
NM_014112.5(TRPS1):c.89A>C (p.Glu30Ala) rs763955674 0.00014
NM_014714.4(IFT140):c.1272G>A (p.Pro424=) rs370562505 0.00014
NM_014714.4(IFT140):c.194C>T (p.Ala65Val) rs142257947 0.00014
NM_014714.4(IFT140):c.22C>G (p.Gln8Glu) rs145267929 0.00014
NM_014714.4(IFT140):c.2651G>A (p.Arg884Gln) rs150498538 0.00014
NM_014714.4(IFT140):c.2935G>A (p.Glu979Lys) rs146277966 0.00014
NM_014112.5(TRPS1):c.1456G>A (p.Asp486Asn) rs34474186 0.00013
NM_014112.5(TRPS1):c.1687T>A (p.Tyr563Asn) rs886062623 0.00013
NM_014112.5(TRPS1):c.3400G>A (p.Val1134Ile) rs143500511 0.00013
NM_014112.5(TRPS1):c.422C>T (p.Pro141Leu) rs201699015 0.00013
NM_014714.4(IFT140):c.1220G>A (p.Arg407Gln) rs151198844 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.2797G>A (p.Glu933Lys) rs1259402740 0.00013
NM_014714.4(IFT140):c.2886G>A (p.Ala962=) rs201150342 0.00013
NM_014714.4(IFT140):c.3104G>A (p.Arg1035Gln) rs138596995 0.00013
NM_014714.4(IFT140):c.3147C>T (p.Asn1049=) rs150129370 0.00013
NM_014714.4(IFT140):c.728A>G (p.Glu243Gly) rs539181813 0.00013
NM_014112.5(TRPS1):c.1279T>G (p.Ser427Ala) rs373510969 0.00012
NM_014714.4(IFT140):c.2551G>A (p.Val851Met) rs754753583 0.00012
NM_014714.4(IFT140):c.2768+12C>T rs756491638 0.00012
NM_014112.5(TRPS1):c.1416C>T (p.His472=) rs186297164 0.00011
NM_014112.5(TRPS1):c.1857G>A (p.Ala619=) rs201618790 0.00011
NM_014112.5(TRPS1):c.2796G>A (p.Ala932=) rs539395441 0.00011
NM_014112.5(TRPS1):c.2988G>A (p.Arg996=) rs202158991 0.00011
NM_014112.5(TRPS1):c.3051C>T (p.Tyr1017=) rs140839419 0.00011
NM_014112.5(TRPS1):c.3140C>T (p.Pro1047Leu) rs200876887 0.00011
NM_014112.5(TRPS1):c.3224C>G (p.Ser1075Cys) rs190186284 0.00011
NM_014714.4(IFT140):c.1364C>T (p.Ala455Val) rs201949058 0.00011
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.634+6G>C rs368229365 0.00011
NM_014112.5(TRPS1):c.542A>G (p.Gln181Arg) rs202001185 0.00010
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.128T>C (p.Val43Ala) rs372148301 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.2987A>G (p.Asn996Ser) rs145645423 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_014112.5(TRPS1):c.3770A>G (p.Gln1257Arg) rs201029096 0.00009
NM_014714.4(IFT140):c.1504G>A (p.Val502Ile) rs183261797 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.2844C>T (p.Tyr948=) rs777036003 0.00009
NM_014714.4(IFT140):c.2920G>A (p.Ala974Thr) rs769420945 0.00009
NM_014714.4(IFT140):c.3661-7T>C rs371103301 0.00009
NM_014714.4(IFT140):c.37G>T (p.Asp13Tyr) rs554065722 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.633C>T (p.Asp211=) rs201319525 0.00009
NM_014112.5(TRPS1):c.3797C>T (p.Thr1266Met) rs376875568 0.00008
NM_014714.4(IFT140):c.160C>T (p.Pro54Ser) rs771294438 0.00008
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.210C>T (p.His70=) rs145160997 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.634G>A (p.Gly212Arg) rs201188361 0.00008
NM_014112.5(TRPS1):c.2470C>T (p.Leu824=) rs201981301 0.00007
NM_014714.4(IFT140):c.1010-10C>T rs376722338 0.00007
NM_014714.4(IFT140):c.1376G>C (p.Trp459Ser) rs778311141 0.00007
NM_014714.4(IFT140):c.1428T>A (p.Ser476Arg) rs771030841 0.00007
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.2773G>A (p.Glu925Lys) rs368922367 0.00007
NM_014714.4(IFT140):c.2786C>T (p.Thr929Met) rs757585192 0.00007
NM_014714.4(IFT140):c.2876G>A (p.Arg959Gln) rs148240226 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_014112.5(TRPS1):c.342G>A (p.Pro114=) rs200131404 0.00006
NM_014112.5(TRPS1):c.99C>G (p.Ile33Met) rs61758125 0.00006
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.201G>T (p.Leu67=) rs138991209 0.00006
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.2944C>T (p.Arg982Trp) rs142342085 0.00006
NM_014714.4(IFT140):c.2965C>T (p.Arg989Cys) rs147756729 0.00006
NM_014714.4(IFT140):c.337C>T (p.Pro113Ser) rs756324852 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.778C>T (p.Pro260Ser) rs369671309 0.00006
NM_014714.4(IFT140):c.811-16T>C rs367948949 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_014112.5(TRPS1):c.1849C>T (p.Pro617Ser) rs369619683 0.00005
NM_014112.5(TRPS1):c.2487T>A (p.Pro829=) rs202162026 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.1520G>T (p.Trp507Leu) rs755959856 0.00005
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.2817G>A (p.Ser939=) rs373651150 0.00005
NM_014714.4(IFT140):c.3015C>T (p.Asn1005=) rs767092157 0.00005
NM_014714.4(IFT140):c.3087G>A (p.Ala1029=) rs139078766 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.594G>A (p.Gly198=) rs754896534 0.00005
NM_014714.4(IFT140):c.634+12T>C rs747805287 0.00005
NM_014714.4(IFT140):c.695C>T (p.Thr232Met) rs373258796 0.00005
NM_014714.4(IFT140):c.832G>A (p.Gly278Ser) rs141986611 0.00005
NM_014112.5(TRPS1):c.1607A>G (p.Tyr536Cys) rs749022707 0.00004
NM_014112.5(TRPS1):c.3399C>T (p.Ser1133=) rs369411533 0.00004
NM_014112.5(TRPS1):c.3724A>C (p.Met1242Leu) rs374209544 0.00004
NM_014714.4(IFT140):c.1020C>T (p.Ala340=) rs777539406 0.00004
NM_014714.4(IFT140):c.1030G>A (p.Asp344Asn) rs201871050 0.00004
NM_014714.4(IFT140):c.1169A>G (p.Lys390Arg) rs369998823 0.00004
NM_014714.4(IFT140):c.1255G>A (p.Ala419Thr) rs769337607 0.00004
NM_014714.4(IFT140):c.1271C>T (p.Pro424Leu) rs780657545 0.00004
NM_014714.4(IFT140):c.1310C>T (p.Ala437Val) rs199881467 0.00004
NM_014714.4(IFT140):c.1509A>G (p.Gln503=) rs139385840 0.00004
NM_014714.4(IFT140):c.1513C>T (p.Arg505Ter) rs1257804746 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.174C>T (p.Val58=) rs769612994 0.00004
NM_014714.4(IFT140):c.1789T>G (p.Ser597Ala) rs771450990 0.00004
NM_014714.4(IFT140):c.183G>A (p.Pro61=) rs751515057 0.00004
NM_014714.4(IFT140):c.189G>A (p.Arg63=) rs759832443 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.2780C>T (p.Ser927Leu) rs2040655109 0.00004
NM_014714.4(IFT140):c.2917G>A (p.Ala973Thr) rs369493147 0.00004
NM_014714.4(IFT140):c.291G>A (p.Thr97=) rs774795976 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.329G>A (p.Arg110His) rs371077545 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.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.69G>T (p.Trp23Cys) rs139141440 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.811-19C>T rs568239635 0.00004
NM_014714.4(IFT140):c.811-7C>T rs751897595 0.00004
NM_014714.4(IFT140):c.903-5T>G rs900599017 0.00004
NM_014112.5(TRPS1):c.1526C>T (p.Thr509Ile) rs774172927 0.00003
NM_014112.5(TRPS1):c.1541G>T (p.Ser514Ile) rs558232936 0.00003
NM_014112.5(TRPS1):c.1743C>G (p.Pro581=) rs886043582 0.00003
NM_014112.5(TRPS1):c.1843T>C (p.Leu615=) rs372922863 0.00003
NM_014112.5(TRPS1):c.2465C>G (p.Ala822Gly) rs777464547 0.00003
NM_014112.5(TRPS1):c.3148A>T (p.Ile1050Phe) rs181035264 0.00003
NM_014112.5(TRPS1):c.3477C>T (p.Thr1159=) rs565639429 0.00003
NM_014112.5(TRPS1):c.565G>A (p.Gly189Ser) rs780885595 0.00003
NM_014112.5(TRPS1):c.890G>A (p.Arg297His) rs376460318 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.126C>T (p.Ser42=) rs753351192 0.00003
NM_014714.4(IFT140):c.1306G>T (p.Val436Phe) rs764912104 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.1368C>T (p.Val456=) rs561657958 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.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.215C>T (p.Thr72Met) rs774892063 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.2781G>A (p.Ser927=) rs773225207 0.00003
NM_014714.4(IFT140):c.3103C>T (p.Arg1035Trp) rs141818893 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.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_014714.4(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.657G>A (p.Glu219=) rs757028149 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.886G>A (p.Gly296Arg) rs574450870 0.00003
NM_014112.5(TRPS1):c.1892A>G (p.Gln631Arg) rs759189183 0.00002
NM_014112.5(TRPS1):c.217C>T (p.His73Tyr) rs572735161 0.00002
NM_014112.5(TRPS1):c.2240C>A (p.Ser747Tyr) rs867076249 0.00002
NM_014112.5(TRPS1):c.270C>T (p.Ser90=) rs76812525 0.00002
NM_014112.5(TRPS1):c.343C>T (p.His115Tyr) rs748128322 0.00002
NM_014112.5(TRPS1):c.601C>G (p.Gln201Glu) rs766826774 0.00002
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.127G>A (p.Val43Met) rs150649451 0.00002
NM_014714.4(IFT140):c.1309G>A (p.Ala437Thr) rs373106880 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.1381G>A (p.Gly461Arg) rs146049665 0.00002
NM_014714.4(IFT140):c.156C>T (p.Cys52=) rs759512538 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.212C>T (p.Pro71Leu) rs772757427 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.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.2791C>T (p.Arg931Cys) rs778436557 0.00002
NM_014714.4(IFT140):c.2816C>T (p.Ser939Leu) rs575485883 0.00002
NM_014714.4(IFT140):c.2997+9C>G rs1596304034 0.00002
NM_014714.4(IFT140):c.3030G>A (p.Leu1010=) rs775322966 0.00002
NM_014714.4(IFT140):c.3061G>A (p.Glu1021Lys) rs576458824 0.00002
NM_014714.4(IFT140):c.3092A>C (p.His1031Pro) rs973440348 0.00002
NM_014714.4(IFT140):c.312C>T (p.Ala104=) rs138263672 0.00002
NM_014714.4(IFT140):c.3137G>A (p.Cys1046Tyr) rs752148006 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.357G>C (p.Leu119=) rs2035838651 0.00002
NM_014714.4(IFT140):c.3584T>C (p.Ile1195Thr) rs753550166 0.00002
NM_014714.4(IFT140):c.35C>T (p.Pro12Leu) rs542803163 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.369+13G>A rs775756737 0.00002
NM_014714.4(IFT140):c.369+14C>T rs766013600 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.423G>A (p.Thr141=) rs769704872 0.00002
NM_014714.4(IFT140):c.4302C>T (p.Thr1434=) rs774573860 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.600C>T (p.His200=) rs371783984 0.00002
NM_014714.4(IFT140):c.70C>T (p.His24Tyr) rs939722027 0.00002
NM_014714.4(IFT140):c.731C>A (p.Ala244Glu) rs758547276 0.00002
NM_014714.4(IFT140):c.773C>T (p.Thr258Met) rs140020318 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_014112.5(TRPS1):c.1239G>A (p.Lys413=) rs568714002 0.00001
NM_014112.5(TRPS1):c.1572C>T (p.Ser524=) rs765625635 0.00001
NM_014112.5(TRPS1):c.1644C>T (p.Ser548=) rs1237070966 0.00001
NM_014112.5(TRPS1):c.1875C>T (p.Val625=) rs752692840 0.00001
NM_014112.5(TRPS1):c.2060T>C (p.Ile687Thr) rs774019004 0.00001
NM_014112.5(TRPS1):c.2637C>T (p.Leu879=) rs559046751 0.00001
NM_014112.5(TRPS1):c.2647T>A (p.Tyr883Asn) rs1039993281 0.00001
NM_014112.5(TRPS1):c.2706T>C (p.Arg902=) rs754260940 0.00001
NM_014112.5(TRPS1):c.2823G>A (p.Ser941=) rs774932870 0.00001
NM_014112.5(TRPS1):c.3105C>T (p.Val1035=) rs753629655 0.00001
NM_014112.5(TRPS1):c.3337G>A (p.Val1113Ile) rs368980249 0.00001
NM_014112.5(TRPS1):c.3482A>G (p.Asn1161Ser) rs547426784 0.00001
NM_014112.5(TRPS1):c.3594G>A (p.Thr1198=) rs185725906 0.00001
NM_014112.5(TRPS1):c.3846C>A (p.Asn1282Lys) rs1343541017 0.00001
NM_014112.5(TRPS1):c.3855A>C (p.Gln1285His) rs1335170890 0.00001
NM_014112.5(TRPS1):c.457G>A (p.Ala153Thr) rs570746805 0.00001
NM_014112.5(TRPS1):c.822C>G (p.Asp274Glu) rs374893780 0.00001
NM_014112.5(TRPS1):c.846C>T (p.Asn282=) rs369477249 0.00001
NM_014112.5(TRPS1):c.88G>A (p.Glu30Lys) rs371442998 0.00001
NM_014112.5(TRPS1):c.988A>G (p.Ile330Val) rs748358474 0.00001
NM_014714.4(IFT140):c.1009+11C>T rs761927308 0.00001
NM_014714.4(IFT140):c.1009+19G>A rs1193125251 0.00001
NM_014714.4(IFT140):c.1029C>T (p.Thr343=) rs556379159 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.1096A>G (p.Lys366Glu) rs776044753 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+8C>T rs757107689 0.00001
NM_014714.4(IFT140):c.1156-18T>C rs1433160902 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.1216G>A (p.Glu406Lys) rs755177677 0.00001
NM_014714.4(IFT140):c.1219C>T (p.Arg407Trp) rs754373519 0.00001
NM_014714.4(IFT140):c.1252G>C (p.Ala418Pro) rs770890983 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.1301C>T (p.Thr434Met) rs762293142 0.00001
NM_014714.4(IFT140):c.1302G>A (p.Thr434=) rs1045923210 0.00001
NM_014714.4(IFT140):c.1321C>T (p.Arg441Cys) rs758986711 0.00001
NM_014714.4(IFT140):c.1322G>A (p.Arg441His) rs776567773 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+17C>T rs767520111 0.00001
NM_014714.4(IFT140):c.1361A>G (p.Asp454Gly) rs376263938 0.00001
NM_014714.4(IFT140):c.1365T>C (p.Ala455=) rs771279803 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.1424G>A (p.Arg475Gln) rs776789813 0.00001
NM_014714.4(IFT140):c.1425G>C (p.Arg475=) rs1312262491 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.1452G>A (p.Thr484=) rs914258252 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.1501C>T (p.Arg501Ter) rs1424099914 0.00001
NM_014714.4(IFT140):c.1524+17C>G rs764602004 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.155G>A (p.Cys52Tyr) rs765500124 0.00001
NM_014714.4(IFT140):c.1563G>A (p.Glu521=) rs146356094 0.00001
NM_014714.4(IFT140):c.157G>A (p.Val53Met) rs776811329 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.182C>T (p.Pro61Leu) rs757082667 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.217C>T (p.Arg73Trp) rs201990219 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.243G>T (p.Glu81Asp) rs1199982756 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.257C>T (p.Thr86Met) rs1159315989 0.00001
NM_014714.4(IFT140):c.2589G>A (p.Glu863=) rs765470612 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.2792G>A (p.Arg931His) rs200088700 0.00001
NM_014714.4(IFT140):c.2796C>T (p.Phe932=) rs765939872 0.00001
NM_014714.4(IFT140):c.280G>A (p.Glu94Lys) rs768102481 0.00001
NM_014714.4(IFT140):c.2815T>C (p.Ser939Pro) rs145549969 0.00001
NM_014714.4(IFT140):c.2862T>C (p.Asp954=) rs747349401 0.00001
NM_014714.4(IFT140):c.2865-5C>T rs779711939 0.00001
NM_014714.4(IFT140):c.2885C>T (p.Ala962Val) rs1371411242 0.00001
NM_014714.4(IFT140):c.2908G>A (p.Glu970Lys) rs143720412 0.00001
NM_014714.4(IFT140):c.2912T>C (p.Met971Thr) rs761061336 0.00001
NM_014714.4(IFT140):c.2916C>T (p.Asp972=) rs148945612 0.00001
NM_014714.4(IFT140):c.2921C>T (p.Ala974Val) rs745576178 0.00001
NM_014714.4(IFT140):c.2934C>T (p.Tyr978=) rs777862012 0.00001
NM_014714.4(IFT140):c.2945G>A (p.Arg982Gln) rs766316995 0.00001
NM_014714.4(IFT140):c.2970C>T (p.Ile990=) rs375635975 0.00001
NM_014714.4(IFT140):c.2984G>T (p.Gly995Val) rs772919008 0.00001
NM_014714.4(IFT140):c.298C>G (p.Leu100Val) rs546498421 0.00001
NM_014714.4(IFT140):c.3016G>A (p.Glu1006Lys) rs375292299 0.00001
NM_014714.4(IFT140):c.3048C>T (p.Leu1016=) rs753196603 0.00001
NM_014714.4(IFT140):c.3060C>T (p.Tyr1020=) rs545658252 0.00001
NM_014714.4(IFT140):c.3076G>A (p.Val1026Ile) rs779289178 0.00001
NM_014714.4(IFT140):c.3077T>C (p.Val1026Ala) rs755333071 0.00001
NM_014714.4(IFT140):c.3086C>T (p.Ala1029Val) rs757852837 0.00001
NM_014714.4(IFT140):c.3129C>T (p.Ile1043=) rs2040617691 0.00001
NM_014714.4(IFT140):c.3131G>A (p.Arg1044His) rs577498082 0.00001
NM_014714.4(IFT140):c.3141+13C>T rs1189568433 0.00001
NM_014714.4(IFT140):c.3141+7C>T rs754889709 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.321C>T (p.Thr107=) rs374346968 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.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.352C>T (p.Leu118=) rs201381885 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.36G>A (p.Pro12=) rs574028286 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.386T>G (p.Leu129Trp) rs773768491 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.409C>T (p.Arg137Ter) rs762817061 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.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
NM_014714.4(IFT140):c.441G>A (p.Glu147=) rs62040002 0.00001
NM_014714.4(IFT140):c.454C>T (p.Leu152Phe) rs1403669200 0.00001
NM_014714.4(IFT140):c.472C>T (p.Arg158Trp) rs755315693 0.00001
NM_014714.4(IFT140):c.488G>T (p.Gly163Val) rs1368823319 0.00001
NM_014714.4(IFT140):c.529G>A (p.Asp177Asn) rs774439512 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.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.740T>C (p.Val247Ala) rs1231656459 0.00001
NM_014714.4(IFT140):c.752A>G (p.Asn251Ser) rs1277927981 0.00001
NM_014714.4(IFT140):c.7C>T (p.Leu3Phe) rs1442341163 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.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.975G>T (p.Glu325Asp) rs1330112951 0.00001
NC_000008.10:g.(?_116426231)_(116635884_?)del
NC_000008.10:g.(?_116599208)_(116635864_?)del
NC_000008.10:g.(?_116599208)_(116635864_?)dup
NC_000008.10:g.(?_116616080)_(116635884_?)dup
NC_000008.10:g.(?_116635808)_(116635864_?)del
NC_000008.11:g.(?_115586981)_(115587624_?)del
NC_000016.10:g.(?_1485939)_(1511150_?)del
NC_000016.10:g.1602592del rs2035852852
NC_000016.9:g.(?_1496632)_(1561171_?)dup
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
NC_000016.9:g.(?_256302)_(1657267_?)del
NC_000016.9:g.(?_256302)_(4852572_?)dup
NM_014112.5(TRPS1):c.1014T>C (p.Asp338=)
NM_014112.5(TRPS1):c.1014_1017dup (p.Gln340fs) rs1563638577
NM_014112.5(TRPS1):c.1026C>A (p.Asn342Lys) rs1407182463
NM_014112.5(TRPS1):c.1040G>A (p.Arg347His)
NM_014112.5(TRPS1):c.105G>A (p.Glu35=)
NM_014112.5(TRPS1):c.1074C>T (p.Asn358=)
NM_014112.5(TRPS1):c.1083C>A (p.Thr361=)
NM_014112.5(TRPS1):c.1084G>A (p.Glu362Lys)
NM_014112.5(TRPS1):c.1093C>T (p.Gln365Ter) rs1554596393
NM_014112.5(TRPS1):c.1113C>T (p.His371=) rs2130494267
NM_014112.5(TRPS1):c.1130C>T (p.Ala377Val)
NM_014112.5(TRPS1):c.1150G>T (p.Val384Phe)
NM_014112.5(TRPS1):c.1154C>A (p.Ala385Glu)
NM_014112.5(TRPS1):c.1154C>G (p.Ala385Gly)
NM_014112.5(TRPS1):c.1176_1179del (p.Asn393fs) rs1817997640
NM_014112.5(TRPS1):c.1176dup (p.Asn393Ter) rs1554596328
NM_014112.5(TRPS1):c.1179C>T (p.Asn393=)
NM_014112.5(TRPS1):c.1180A>T (p.Lys394Ter) rs1368938675
NM_014112.5(TRPS1):c.1196T>G (p.Leu399Arg)
NM_014112.5(TRPS1):c.1217A>G (p.Asp406Gly)
NM_014112.5(TRPS1):c.1219T>A (p.Leu407Met) rs1817996176
NM_014112.5(TRPS1):c.1229G>A (p.Trp410Ter)
NM_014112.5(TRPS1):c.1233G>A (p.Gln411=)
NM_014112.5(TRPS1):c.1244C>T (p.Thr415Ile)
NM_014112.5(TRPS1):c.1266T>C (p.Thr422=)
NM_014112.5(TRPS1):c.1299C>G (p.Leu433=) rs370007078
NM_014112.5(TRPS1):c.1333A>C (p.Ser445Arg)
NM_014112.5(TRPS1):c.1339T>C (p.Tyr447His)
NM_014112.5(TRPS1):c.1346G>A (p.Cys449Tyr)
NM_014112.5(TRPS1):c.1387A>T (p.Lys463Ter) rs2130493086
NM_014112.5(TRPS1):c.1395A>G (p.Leu465=) rs1315134646
NM_014112.5(TRPS1):c.1402del (p.Tyr468fs) rs2130493020
NM_014112.5(TRPS1):c.1408_1409del (p.Lys470fs)
NM_014112.5(TRPS1):c.140A>G (p.Asn47Ser)
NM_014112.5(TRPS1):c.1417G>A (p.Gly473Arg)
NM_014112.5(TRPS1):c.1427dup (p.Ser477fs) rs1817988877
NM_014112.5(TRPS1):c.1435G>A (p.Gly479Ser)
NM_014112.5(TRPS1):c.1467C>T (p.Ser489=)
NM_014112.5(TRPS1):c.1488del (p.Asn497fs)
NM_014112.5(TRPS1):c.1512_1522del (p.Glu504fs)
NM_014112.5(TRPS1):c.152C>T (p.Ser51Phe)
NM_014112.5(TRPS1):c.1545G>A (p.Ser515=)
NM_014112.5(TRPS1):c.1545G>T (p.Ser515=)
NM_014112.5(TRPS1):c.1558AAG[1] (p.Lys521del)
NM_014112.5(TRPS1):c.1584C>T (p.Ala528=)
NM_014112.5(TRPS1):c.1585G>A (p.Glu529Lys)
NM_014112.5(TRPS1):c.1587G>A (p.Glu529=)
NM_014112.5(TRPS1):c.1615C>A (p.Gln539Lys)
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter) rs886040971
NM_014112.5(TRPS1):c.1646_1649dup (p.Pro551fs) rs2130491759
NM_014112.5(TRPS1):c.1649_1650del (p.Gly550fs) rs1554596063
NM_014112.5(TRPS1):c.1650C>A (p.Gly550=)
NM_014112.5(TRPS1):c.1652C>T (p.Pro551Leu) rs2130491714
NM_014112.5(TRPS1):c.1654G>C (p.Asp552His)
NM_014112.5(TRPS1):c.1657G>C (p.Val553Leu) rs780734185
NM_014112.5(TRPS1):c.1663G>T (p.Val555Leu)
NM_014112.5(TRPS1):c.1690C>T (p.Gln564Ter) rs755557039
NM_014112.5(TRPS1):c.1695_1705del (p.Gln565fs) rs1563637033
NM_014112.5(TRPS1):c.1697T>G (p.Leu566Arg)
NM_014112.5(TRPS1):c.1718C>T (p.Thr573Ile) rs2130491431
NM_014112.5(TRPS1):c.176C>T (p.Thr59Met)
NM_014112.5(TRPS1):c.1777G>T (p.Glu593Ter) rs2130491235
NM_014112.5(TRPS1):c.177G>A (p.Thr59=)
NM_014112.5(TRPS1):c.1782T>C (p.Ile594=)
NM_014112.5(TRPS1):c.1784C>T (p.Thr595Ile)
NM_014112.5(TRPS1):c.17A>G (p.Asn6Ser)
NM_014112.5(TRPS1):c.1846T>A (p.Ser616Thr) rs780551240
NM_014112.5(TRPS1):c.1869G>A (p.Ser623=) rs751550383
NM_014112.5(TRPS1):c.1869G>T (p.Ser623=) rs751550383
NM_014112.5(TRPS1):c.1870C>T (p.Arg624Ter) rs121908431
NM_014112.5(TRPS1):c.1877A>G (p.Lys626Arg)
NM_014112.5(TRPS1):c.1898C>A (p.Ser633Ter)
NM_014112.5(TRPS1):c.1911del (p.Asp638fs) rs2130490634
NM_014112.5(TRPS1):c.1919_2096+2929del
NM_014112.5(TRPS1):c.1929C>G (p.Leu643=)
NM_014112.5(TRPS1):c.1942del (p.Ser648fs)
NM_014112.5(TRPS1):c.1947G>T (p.Val649=)
NM_014112.5(TRPS1):c.1951G>A (p.Glu651Lys) rs1174923595
NM_014112.5(TRPS1):c.1955C>A (p.Ser652Tyr)
NM_014112.5(TRPS1):c.1964C>T (p.Ser655Leu)
NM_014112.5(TRPS1):c.1974A>G (p.Lys658=)
NM_014112.5(TRPS1):c.1975C>A (p.Gln659Lys)
NM_014112.5(TRPS1):c.1992G>A (p.Leu664=)
NM_014112.5(TRPS1):c.2000C>T (p.Ser667Leu)
NM_014112.5(TRPS1):c.2001G>A (p.Ser667=) rs766238512
NM_014112.5(TRPS1):c.2026A>C (p.Ser676Arg)
NM_014112.5(TRPS1):c.2026A>G (p.Ser676Gly)
NM_014112.5(TRPS1):c.2036A>T (p.His679Leu)
NM_014112.5(TRPS1):c.2049del (p.Lys683fs)
NM_014112.5(TRPS1):c.2086C>T (p.Arg696Ter) rs368166434
NM_014112.5(TRPS1):c.2087G>A (p.Arg696Gln)
NM_014112.5(TRPS1):c.2096+10G>T
NM_014112.5(TRPS1):c.2096+11G>C rs754841326
NM_014112.5(TRPS1):c.2097-12C>T
NM_014112.5(TRPS1):c.2097-14T>C
NM_014112.5(TRPS1):c.2097-2A>C
NM_014112.5(TRPS1):c.2107A>C (p.Ser703Arg)
NM_014112.5(TRPS1):c.2108G>A (p.Ser703Asn)
NM_014112.5(TRPS1):c.212A>G (p.Glu71Gly)
NM_014112.5(TRPS1):c.2145C>T (p.Ala715=)
NM_014112.5(TRPS1):c.2152C>T (p.Gln718Ter) rs2130445981
NM_014112.5(TRPS1):c.2183A>G (p.His728Arg)
NM_014112.5(TRPS1):c.2188C>T (p.Gln730Ter) rs2130445833
NM_014112.5(TRPS1):c.2194C>T (p.Gln732Ter) rs2130445786
NM_014112.5(TRPS1):c.2195A>G (p.Gln732Arg)
NM_014112.5(TRPS1):c.2195_2204del (p.Gln732fs) rs1554593085
NM_014112.5(TRPS1):c.2213A>G (p.Asn738Ser)
NM_014112.5(TRPS1):c.2236A>C (p.Ile746Leu)
NM_014112.5(TRPS1):c.2251G>C (p.Glu751Gln) rs1207875402
NM_014112.5(TRPS1):c.2282A>G (p.Asn761Ser)
NM_014112.5(TRPS1):c.2297A>C (p.Asp766Ala) rs1817588637
NM_014112.5(TRPS1):c.2300_2301del (p.Asp766_Ser767insTer) rs2130445285
NM_014112.5(TRPS1):c.2301T>C (p.Ser767=)
NM_014112.5(TRPS1):c.2310A>G (p.Gly770=)
NM_014112.5(TRPS1):c.2343_2344del (p.Lys782fs) rs1586431452
NM_014112.5(TRPS1):c.2381G>A (p.Trp794Ter)
NM_014112.5(TRPS1):c.2389_2390dup (p.Ser797fs)
NM_014112.5(TRPS1):c.2397T>A (p.Ser799Arg)
NM_014112.5(TRPS1):c.2409C>T (p.Arg803=)
NM_014112.5(TRPS1):c.2437C>T (p.Leu813=)
NM_014112.5(TRPS1):c.2441G>A (p.Arg814Gln) rs146506752
NM_014112.5(TRPS1):c.2442G>A (p.Arg814=)
NM_014112.5(TRPS1):c.2444G>T (p.Gly815Val) rs763124273
NM_014112.5(TRPS1):c.2451G>A (p.Pro817=)
NM_014112.5(TRPS1):c.2453C>A (p.Ser818Ter) rs2130444603
NM_014112.5(TRPS1):c.2469C>G (p.Ser823Arg)
NM_014112.5(TRPS1):c.2500C>T (p.Gln834Ter)
NM_014112.5(TRPS1):c.2506C>T (p.Gln836Ter)
NM_014112.5(TRPS1):c.2514G>A (p.Lys838=)
NM_014112.5(TRPS1):c.2518_2519del (p.Leu840fs) rs2130444163
NM_014112.5(TRPS1):c.2523G>A (p.Arg841=)
NM_014112.5(TRPS1):c.2524G>A (p.Asp842Asn)
NM_014112.5(TRPS1):c.2532del (p.Asn845fs)
NM_014112.5(TRPS1):c.2534A>G (p.Asn845Ser)
NM_014112.5(TRPS1):c.2542G>A (p.Ala848Thr)
NM_014112.5(TRPS1):c.2559A>C (p.Arg853=)
NM_014112.5(TRPS1):c.2563A>T (p.Ile855Phe)
NM_014112.5(TRPS1):c.2568T>G (p.Tyr856Ter) rs1563623987
NM_014112.5(TRPS1):c.2572T>G (p.Leu858Val)
NM_014112.5(TRPS1):c.2586C>G (p.Thr862=) rs1586430909
NM_014112.5(TRPS1):c.2609C>T (p.Pro870Leu)
NM_014112.5(TRPS1):c.2616C>A (p.Gly872=)
NM_014112.5(TRPS1):c.2627C>A (p.Ser876Tyr)
NM_014112.5(TRPS1):c.2634C>T (p.Ala878=)
NM_014112.5(TRPS1):c.2638C>T (p.Pro880Ser)
NM_014112.5(TRPS1):c.2641C>T (p.Gln881Ter) rs1156330285
NM_014112.5(TRPS1):c.2650C>T (p.Pro884Ser) rs2130443313
NM_014112.5(TRPS1):c.2657C>A (p.Ser886Ter) rs142472404
NM_014112.5(TRPS1):c.2657C>T (p.Ser886Leu)
NM_014112.5(TRPS1):c.2683T>G (p.Ser895Ala) rs2130443107
NM_014112.5(TRPS1):c.2697A>T (p.Leu899Phe)
NM_014112.5(TRPS1):c.2700+1G>A rs1586430684
NM_014112.5(TRPS1):c.2700G>C (p.Arg900=) rs2130443039
NM_014112.5(TRPS1):c.2701-15T>C
NM_014112.5(TRPS1):c.2701-20G>T
NM_014112.5(TRPS1):c.271G>A (p.Ala91Thr)
NM_014112.5(TRPS1):c.2725T>C (p.Cys909Arg)
NM_014112.5(TRPS1):c.2732A>G (p.Asn911Ser) rs1554617580
NM_014112.5(TRPS1):c.2735G>T (p.Cys912Phe)
NM_014112.5(TRPS1):c.2738dup (p.Thr914fs)
NM_014112.5(TRPS1):c.2750C>T (p.Thr917Ile)
NM_014112.5(TRPS1):c.2753C>T (p.Ser918Phe)
NM_014112.5(TRPS1):c.2757_2758del (p.Trp920fs) rs2129768973
NM_014112.5(TRPS1):c.275T>C (p.Val92Ala) rs1818352045
NM_014112.5(TRPS1):c.2761C>T (p.Arg921Ter) rs751565386
NM_014112.5(TRPS1):c.2762G>A (p.Arg921Gln) rs121908435
NM_014112.5(TRPS1):c.2769T>G (p.Asn923Lys) rs775374141
NM_014112.5(TRPS1):c.2778C>T (p.Gly926=)
NM_014112.5(TRPS1):c.2786T>G (p.Val929Gly) rs2129768696
NM_014112.5(TRPS1):c.2788T>C (p.Cys930Arg) rs1812971696
NM_014112.5(TRPS1):c.2788T>G (p.Cys930Gly) rs1812971696
NM_014112.5(TRPS1):c.2792A>T (p.Asn931Ile)
NM_014112.5(TRPS1):c.2794G>A (p.Ala932Thr) rs1057518972
NM_014112.5(TRPS1):c.2795C>T (p.Ala932Val) rs121908436
NM_014112.5(TRPS1):c.2798G>A (p.Cys933Tyr) rs1812971156
NM_014112.5(TRPS1):c.2803C>T (p.Leu935Phe) rs1812970992
NM_014112.5(TRPS1):c.2808C>G (p.Tyr936Ter)
NM_014112.5(TRPS1):c.2823+15C>T rs201296334
NM_014112.5(TRPS1):c.2823+19del rs2129768290
NM_014112.5(TRPS1):c.2824-17G>A
NM_014112.5(TRPS1):c.2824-18T>C
NM_014112.5(TRPS1):c.2824-6C>T
NM_014112.5(TRPS1):c.2829del (p.Arg944fs) rs2129752164
NM_014112.5(TRPS1):c.2849A>G (p.Lys950Arg)
NM_014112.5(TRPS1):c.2866C>T (p.Gln956Ter)
NM_014112.5(TRPS1):c.2880del (p.Arg961fs) rs1586250578
NM_014112.5(TRPS1):c.2890A>G (p.Lys964Glu) rs2129751692
NM_014112.5(TRPS1):c.2891A>C (p.Lys964Thr) rs1812883227
NM_014112.5(TRPS1):c.2893C>T (p.Arg965Cys) rs28939069
NM_014112.5(TRPS1):c.2894G>A (p.Arg965His) rs28939070
NM_014112.5(TRPS1):c.2895C>A (p.Arg965=)
NM_014112.5(TRPS1):c.2907G>C (p.Glu969Asp)
NM_014112.5(TRPS1):c.2919T>C (p.Ala973=)
NM_014112.5(TRPS1):c.2930A>G (p.Asn977Ser)
NM_014112.5(TRPS1):c.2941_2942del (p.Arg981fs)
NM_014112.5(TRPS1):c.294C>T (p.Gly98=)
NM_014112.5(TRPS1):c.2956_2960dup (p.Val988fs) rs1812880824
NM_014112.5(TRPS1):c.2958G>A (p.Glu986=)
NM_014112.5(TRPS1):c.2975C>T (p.Pro992Leu)
NM_014112.5(TRPS1):c.2981_2984del (p.Glu994fs) rs1554617011
NM_014112.5(TRPS1):c.3008A>G (p.Glu1003Gly)
NM_014112.5(TRPS1):c.3010dup (p.Ser1004fs)
NM_014112.5(TRPS1):c.3020G>A (p.Arg1007Lys)
NM_014112.5(TRPS1):c.3028C>G (p.Pro1010Ala)
NM_014112.5(TRPS1):c.304G>A (p.Glu102Lys)
NM_014112.5(TRPS1):c.3052G>A (p.Glu1018Lys)
NM_014112.5(TRPS1):c.3060G>T (p.Gln1020His)
NM_014112.5(TRPS1):c.3067T>C (p.Leu1023=)
NM_014112.5(TRPS1):c.3116T>C (p.Leu1039Pro) rs1286729898
NM_014112.5(TRPS1):c.3176C>G (p.Thr1059Ser)
NM_014112.5(TRPS1):c.3185C>T (p.Pro1062Leu)
NM_014112.5(TRPS1):c.3187G>A (p.Gly1063Arg)
NM_014112.5(TRPS1):c.3201C>T (p.Ser1067=)
NM_014112.5(TRPS1):c.3229A>T (p.Arg1077Ter)
NM_014112.5(TRPS1):c.323G>A (p.Gly108Glu) rs1206269604
NM_014112.5(TRPS1):c.3248del (p.Lys1083fs) rs2129749121
NM_014112.5(TRPS1):c.3264G>A (p.Ala1088=)
NM_014112.5(TRPS1):c.3268_3275del (p.His1090fs) rs2129748972
NM_014112.5(TRPS1):c.3317C>A (p.Pro1106Gln)
NM_014112.5(TRPS1):c.3333C>G (p.Pro1111=)
NM_014112.5(TRPS1):c.3364G>A (p.Asp1122Asn)
NM_014112.5(TRPS1):c.3374G>A (p.Arg1125Gln)
NM_014112.5(TRPS1):c.3390T>C (p.Tyr1130=)
NM_014112.5(TRPS1):c.3413C>T (p.Pro1138Leu)
NM_014112.5(TRPS1):c.341C>T (p.Pro114Leu)
NM_014112.5(TRPS1):c.3429C>T (p.His1143=)
NM_014112.5(TRPS1):c.342G>T (p.Pro114=)
NM_014112.5(TRPS1):c.3439C>T (p.Leu1147=)
NM_014112.5(TRPS1):c.3443C>G (p.Pro1148Arg)
NM_014112.5(TRPS1):c.3461dup (p.Tyr1154Ter) rs1812863711
NM_014112.5(TRPS1):c.3486G>A (p.Leu1162=)
NM_014112.5(TRPS1):c.3502G>T (p.Ala1168Ser)
NM_014112.5(TRPS1):c.3505G>T (p.Val1169Phe)
NM_014112.5(TRPS1):c.3513A>G (p.Ser1171=)
NM_014112.5(TRPS1):c.3518A>G (p.Asn1173Ser)
NM_014112.5(TRPS1):c.3540G>A (p.Ala1180=) rs764387571
NM_014112.5(TRPS1):c.3540G>C (p.Ala1180=)
NM_014112.5(TRPS1):c.3556_3559dup (p.Gly1187fs)
NM_014112.5(TRPS1):c.3561G>A (p.Gly1187=) rs2129746732
NM_014112.5(TRPS1):c.3573C>T (p.Asn1191=) rs375082372
NM_014112.5(TRPS1):c.3574G>A (p.Gly1192Ser)
NM_014112.5(TRPS1):c.3584A>G (p.Lys1195Arg)
NM_014112.5(TRPS1):c.3612A>G (p.Val1204=)
NM_014112.5(TRPS1):c.3616A>T (p.Asn1206Tyr)
NM_014112.5(TRPS1):c.361A>G (p.Arg121Gly) rs964024525
NM_014112.5(TRPS1):c.3620A>G (p.Glu1207Gly) rs2129746312
NM_014112.5(TRPS1):c.3621A>G (p.Glu1207=)
NM_014112.5(TRPS1):c.3627C>G (p.Pro1209=)
NM_014112.5(TRPS1):c.3629T>G (p.Leu1210Trp) rs2129746217
NM_014112.5(TRPS1):c.3637G>C (p.Val1213Leu)
NM_014112.5(TRPS1):c.3667C>G (p.Gln1223Glu)
NM_014112.5(TRPS1):c.3698G>A (p.Cys1233Tyr) rs1586249260
NM_014112.5(TRPS1):c.37+7G>A
NM_014112.5(TRPS1):c.3703A>G (p.Ile1235Val)
NM_014112.5(TRPS1):c.3717T>A (p.Asp1239Glu)
NM_014112.5(TRPS1):c.3724A>T (p.Met1242Leu)
NM_014112.5(TRPS1):c.3725dup (p.Met1242fs)
NM_014112.5(TRPS1):c.3736C>T (p.His1246Tyr) rs1812855223
NM_014112.5(TRPS1):c.3749A>C (p.His1250Pro) rs2129745482
NM_014112.5(TRPS1):c.3749A>G (p.His1250Arg)
NM_014112.5(TRPS1):c.3751G>A (p.Gly1251Ser) rs1234476401
NM_014112.5(TRPS1):c.3756C>T (p.Asp1252=)
NM_014112.5(TRPS1):c.3798G>A (p.Thr1266=)
NM_014112.5(TRPS1):c.3833G>C (p.Gly1278Ala)
NM_014112.5(TRPS1):c.3852A>G (p.Ala1284=)
NM_014112.5(TRPS1):c.3866dup (p.Asn1289fs) rs1401148397
NM_014112.5(TRPS1):c.388G>C (p.Ala130Pro)
NM_014112.5(TRPS1):c.390del (p.Ala131fs)
NM_014112.5(TRPS1):c.391G>T (p.Ala131Ser)
NM_014112.5(TRPS1):c.408G>A (p.Glu136=)
NM_014112.5(TRPS1):c.414G>A (p.Leu138=)
NM_014112.5(TRPS1):c.416A>G (p.Lys139Arg)
NM_014112.5(TRPS1):c.426A>G (p.Gln142=)
NM_014112.5(TRPS1):c.461G>A (p.Cys154Tyr)
NM_014112.5(TRPS1):c.462C>T (p.Cys154=) rs1419381053
NM_014112.5(TRPS1):c.468C>T (p.Pro156=)
NM_014112.5(TRPS1):c.471A>C (p.Ser157=) rs780661100
NM_014112.5(TRPS1):c.489_492del (p.Glu165fs) rs1586464368
NM_014112.5(TRPS1):c.49A>G (p.Lys17Glu)
NM_014112.5(TRPS1):c.504G>T (p.Lys168Asn)
NM_014112.5(TRPS1):c.523G>A (p.Glu175Lys)
NM_014112.5(TRPS1):c.525G>A (p.Glu175=) rs2130532256
NM_014112.5(TRPS1):c.54dup (p.Asn19fs)
NM_014112.5(TRPS1):c.570G>A (p.Leu190=)
NM_014112.5(TRPS1):c.570G>C (p.Leu190Phe)
NM_014112.5(TRPS1):c.586G>A (p.Ala196Thr)
NM_014112.5(TRPS1):c.587C>T (p.Ala196Val)
NM_014112.5(TRPS1):c.596del (p.Asn199fs) rs2130531960
NM_014112.5(TRPS1):c.599C>T (p.Pro200Leu)
NM_014112.5(TRPS1):c.612_615dup (p.Gly206fs) rs2130531887
NM_014112.5(TRPS1):c.653T>G (p.Leu218Arg)
NM_014112.5(TRPS1):c.675G>C (p.Pro225=) rs757893991
NM_014112.5(TRPS1):c.713A>G (p.Asn238Ser)
NM_014112.5(TRPS1):c.72C>T (p.Asn24=)
NM_014112.5(TRPS1):c.735C>T (p.Tyr245=)
NM_014112.5(TRPS1):c.73G>A (p.Val25Ile)
NM_014112.5(TRPS1):c.769C>T (p.Arg257Ter) rs2130531352
NM_014112.5(TRPS1):c.801del (p.Arg268fs)
NM_014112.5(TRPS1):c.805C>G (p.Gln269Glu) rs770670680
NM_014112.5(TRPS1):c.895G>T (p.Val299Leu)
NM_014112.5(TRPS1):c.900T>C (p.Phe300=)
NM_014112.5(TRPS1):c.913C>T (p.Gln305Ter) rs1297221126
NM_014112.5(TRPS1):c.923A>G (p.Asn308Ser)
NM_014112.5(TRPS1):c.926C>T (p.Ser309Phe)
NM_014112.5(TRPS1):c.940T>A (p.Leu314Ile)
NM_014112.5(TRPS1):c.964C>T (p.Gln322Ter) rs2130530613
NM_014112.5(TRPS1):c.967-1G>T rs2130494791
NM_014112.5(TRPS1):c.993C>T (p.Gly331=)
NM_014714.4(IFT140):c.1009+10C>T
NM_014714.4(IFT140):c.1009+16C>A
NM_014714.4(IFT140):c.1009+17T>C
NM_014714.4(IFT140):c.1009+17T>G
NM_014714.4(IFT140):c.1009+1G>T
NM_014714.4(IFT140):c.1010-10C>A
NM_014714.4(IFT140):c.1010-15T>G
NM_014714.4(IFT140):c.102C>T (p.Tyr34=)
NM_014714.4(IFT140):c.1035A>G (p.Arg345=)
NM_014714.4(IFT140):c.1037G>T (p.Gly346Val)
NM_014714.4(IFT140):c.1038G>C (p.Gly346=)
NM_014714.4(IFT140):c.1039C>T (p.Arg347Ter) rs1166261279
NM_014714.4(IFT140):c.1049T>C (p.Met350Thr) rs1188370536
NM_014714.4(IFT140):c.1055G>A (p.Arg352Lys)
NM_014714.4(IFT140):c.1056G>T (p.Arg352Ser) rs750247837
NM_014714.4(IFT140):c.106A>T (p.Ser36Cys)
NM_014714.4(IFT140):c.1073_1083del (p.Leu358fs)
NM_014714.4(IFT140):c.1081C>T (p.Pro361Ser)
NM_014714.4(IFT140):c.1089A>G (p.Ala363=)
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.110C>G (p.Thr37Arg) rs1487413546
NM_014714.4(IFT140):c.1114del (p.Gln372fs)
NM_014714.4(IFT140):c.1118C>T (p.Thr373Ile)
NM_014714.4(IFT140):c.1119C>T (p.Thr373=)
NM_014714.4(IFT140):c.1121C>T (p.Pro374Leu) rs2034866707
NM_014714.4(IFT140):c.1125C>G (p.Thr375=)
NM_014714.4(IFT140):c.1134A>G (p.Gln378=)
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.1156-11T>C
NM_014714.4(IFT140):c.1156-19T>C
NM_014714.4(IFT140):c.1167G>A (p.Arg389=)
NM_014714.4(IFT140):c.1177C>T (p.Leu393=)
NM_014714.4(IFT140):c.1187A>T (p.Asn396Ile)
NM_014714.4(IFT140):c.118A>G (p.Thr40Ala) rs1331143723
NM_014714.4(IFT140):c.1191C>T (p.Ser397=)
NM_014714.4(IFT140):c.1203G>A (p.Val401=)
NM_014714.4(IFT140):c.1215C>T (p.Ser405=) rs778865722
NM_014714.4(IFT140):c.1221G>A (p.Arg407=)
NM_014714.4(IFT140):c.1221G>C (p.Arg407=)
NM_014714.4(IFT140):c.1243C>A (p.Gln415Lys)
NM_014714.4(IFT140):c.1251G>A (p.Val417=) rs1011320736
NM_014714.4(IFT140):c.1268C>A (p.Ser423Tyr)
NM_014714.4(IFT140):c.1293C>A (p.Phe431Leu)
NM_014714.4(IFT140):c.1296G>A (p.Leu432=) rs2141817626
NM_014714.4(IFT140):c.1297T>G (p.Ser433Ala)
NM_014714.4(IFT140):c.1299C>T (p.Ser433=)
NM_014714.4(IFT140):c.1318C>T (p.Leu440=)
NM_014714.4(IFT140):c.1334A>G (p.His445Arg) rs2141817075
NM_014714.4(IFT140):c.1346del (p.Val449fs)
NM_014714.4(IFT140):c.1359+13G>A
NM_014714.4(IFT140):c.1359+1G>A rs2034739931
NM_014714.4(IFT140):c.1359G>A (p.Lys453=) rs2034740047
NM_014714.4(IFT140):c.1360-13T>C
NM_014714.4(IFT140):c.1362T>C (p.Asp454=)
NM_014714.4(IFT140):c.1369G>A (p.Ala457Thr) rs747510464
NM_014714.4(IFT140):c.1371A>G (p.Ala457=)
NM_014714.4(IFT140):c.1380del (p.Asn460fs) rs431905522
NM_014714.4(IFT140):c.1383A>C (p.Gly461=)
NM_014714.4(IFT140):c.1394C>T (p.Ala465Val)
NM_014714.4(IFT140):c.1404G>A (p.Glu468=)
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.1427G>C (p.Ser476Thr)
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.142G>A (p.Glu48Lys)
NM_014714.4(IFT140):c.1432+17C>T
NM_014714.4(IFT140):c.1432+18G>T
NM_014714.4(IFT140):c.1432+20A>G
NM_014714.4(IFT140):c.1432+5G>A
NM_014714.4(IFT140):c.1432+8C>A rs1470310323
NM_014714.4(IFT140):c.1433-11T>G
NM_014714.4(IFT140):c.1433-14G>A
NM_014714.4(IFT140):c.1433-8C>A rs2034521408
NM_014714.4(IFT140):c.1445G>A (p.Cys482Tyr) rs1596402406
NM_014714.4(IFT140):c.1465A>G (p.Met489Val) rs778765501
NM_014714.4(IFT140):c.146_147+2del rs2142099151
NM_014714.4(IFT140):c.147+13A>G
NM_014714.4(IFT140):c.147+2T>G
NM_014714.4(IFT140):c.148-14C>G
NM_014714.4(IFT140):c.148-16_148-15delinsGC rs2142043610
NM_014714.4(IFT140):c.148-17C>T
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.1486A>G (p.Thr496Ala)
NM_014714.4(IFT140):c.1490T>C (p.Val497Ala) rs2141751314
NM_014714.4(IFT140):c.1491G>A (p.Val497=)
NM_014714.4(IFT140):c.1498A>G (p.Asn500Asp)
NM_014714.4(IFT140):c.14A>T (p.Tyr5Phe)
NM_014714.4(IFT140):c.1501C>A (p.Arg501=)
NM_014714.4(IFT140):c.1502G>A (p.Arg501Gln)
NM_014714.4(IFT140):c.150G>T (p.Gly50=) rs1257577001
NM_014714.4(IFT140):c.1514G>A (p.Arg505Gln)
NM_014714.4(IFT140):c.1519T>C (p.Trp507Arg)
NM_014714.4(IFT140):c.1520G>C (p.Trp507Ser)
NM_014714.4(IFT140):c.1524+16A>G
NM_014714.4(IFT140):c.1524+19G>A
NM_014714.4(IFT140):c.1525-19T>C
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.154T>C (p.Cys52Arg) rs886051770
NM_014714.4(IFT140):c.1568A>T (p.Asn523Ile)
NM_014714.4(IFT140):c.157_160del (p.Val53fs)
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.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.169del (p.His57fs)
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.171C>T (p.His57=) rs141882340
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.172G>A (p.Val58Ile)
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.173T>G (p.Val58Gly)
NM_014714.4(IFT140):c.1752C>T (p.Ile584=) rs2141595363
NM_014714.4(IFT140):c.1753A>C (p.Ser585Arg)
NM_014714.4(IFT140):c.175G>A (p.Glu59Lys)
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.177G>C (p.Glu59Asp) rs1431384802
NM_014714.4(IFT140):c.1782C>A (p.Ser594Arg) rs2033711810
NM_014714.4(IFT140):c.178A>C (p.Arg60=) rs2142042835
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.188G>A (p.Arg63Gln)
NM_014714.4(IFT140):c.188G>C (p.Arg63Pro) rs765411860
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.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.190G>C (p.Val64Leu)
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.2068-3C>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.208C>T (p.His70Tyr) rs2142042420
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.212C>G (p.Pro71Arg)
NM_014714.4(IFT140):c.2136C>A (p.Pro712=)
NM_014714.4(IFT140):c.2137C>T (p.Arg713Trp)
NM_014714.4(IFT140):c.213G>A (p.Pro71=)
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.217_218del (p.Arg73fs) rs2035847573
NM_014714.4(IFT140):c.218G>A (p.Arg73Gln) rs149202904
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.236G>T (p.Gly79Val)
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.240G>A (p.Trp80Ter) rs1471379682
NM_014714.4(IFT140):c.240G>T (p.Trp80Cys) rs1471379682
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.244A>G (p.Thr82Ala) rs2035846064
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.251A>G (p.Glu84Gly) rs755089438
NM_014714.4(IFT140):c.251A>T (p.Glu84Val)
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.255G>A (p.Val85=)
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+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.2578-15A>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.258G>A (p.Thr86=) rs766569165
NM_014714.4(IFT140):c.25A>C (p.Ile9Leu)
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.261G>A (p.Val87=)
NM_014714.4(IFT140):c.2627A>G (p.Asn876Ser) rs775517181
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.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.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.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.2769-10_2769-8del rs747185911
NM_014714.4(IFT140):c.2769-11T>G
NM_014714.4(IFT140):c.2769-15C>T
NM_014714.4(IFT140):c.2788C>T (p.His930Tyr)
NM_014714.4(IFT140):c.2800G>T (p.Val934Leu)
NM_014714.4(IFT140):c.2812C>G (p.Leu938Val) rs2141175204
NM_014714.4(IFT140):c.2814G>C (p.Leu938=) rs750405092
NM_014714.4(IFT140):c.2818G>A (p.Glu940Lys) rs2141175146
NM_014714.4(IFT140):c.2820G>A (p.Glu940=) rs2141175137
NM_014714.4(IFT140):c.2824C>G (p.Leu942Val)
NM_014714.4(IFT140):c.2825T>C (p.Leu942Pro)
NM_014714.4(IFT140):c.2828C>T (p.Pro943Leu) rs200561100
NM_014714.4(IFT140):c.2829G>C (p.Pro943=)
NM_014714.4(IFT140):c.2835G>C (p.Leu945=)
NM_014714.4(IFT140):c.2839C>A (p.Leu947Ile)
NM_014714.4(IFT140):c.2859G>T (p.Lys953Asn) rs2040934250
NM_014714.4(IFT140):c.2864+18G>T
NM_014714.4(IFT140):c.2864+19G>A
NM_014714.4(IFT140):c.2864+19_2864+27del
NM_014714.4(IFT140):c.2864+2T>C
NM_014714.4(IFT140):c.2864A>C (p.Lys955Thr) rs2141174966
NM_014714.4(IFT140):c.2865-15T>C
NM_014714.4(IFT140):c.2865-18G>T
NM_014714.4(IFT140):c.2865-4G>A rs113784788
NM_014714.4(IFT140):c.2865-4G>T rs113784788
NM_014714.4(IFT140):c.2865-8G>T
NM_014714.4(IFT140):c.2866A>G (p.Thr956Ala) rs780823837
NM_014714.4(IFT140):c.2868C>A (p.Thr956=)
NM_014714.4(IFT140):c.2868C>T (p.Thr956=)
NM_014714.4(IFT140):c.2869C>T (p.Leu957=)
NM_014714.4(IFT140):c.2875C>T (p.Arg959Trp)
NM_014714.4(IFT140):c.2886G>T (p.Ala962=)
NM_014714.4(IFT140):c.2896G>A (p.Glu966Lys) rs759898401
NM_014714.4(IFT140):c.2904G>A (p.Gln968=)
NM_014714.4(IFT140):c.2905G>A (p.Gly969Ser) rs1343112452
NM_014714.4(IFT140):c.2907C>A (p.Gly969=) rs1157630610
NM_014714.4(IFT140):c.2907C>T (p.Gly969=) rs1157630610
NM_014714.4(IFT140):c.2909A>T (p.Glu970Val) rs2141172567
NM_014714.4(IFT140):c.2909_2920del (p.Glu970_Ala973del) rs1489901262
NM_014714.4(IFT140):c.2923C>T (p.Leu975=)
NM_014714.4(IFT140):c.2926C>A (p.His976Asn)
NM_014714.4(IFT140):c.2931C>T (p.Tyr977=)
NM_014714.4(IFT140):c.2934C>A (p.Tyr978Ter) rs777862012
NM_014714.4(IFT140):c.2944_2948delinsGGGG (p.Arg982fs) rs2040631802
NM_014714.4(IFT140):c.2947G>C (p.Asp983His)
NM_014714.4(IFT140):c.2951A>G (p.His984Arg) rs2141172218
NM_014714.4(IFT140):c.295C>T (p.Pro99Ser)
NM_014714.4(IFT140):c.2966G>A (p.Arg989His)
NM_014714.4(IFT140):c.2966G>C (p.Arg989Pro)
NM_014714.4(IFT140):c.2970C>A (p.Ile990=)
NM_014714.4(IFT140):c.2987del (p.Asn996fs)
NM_014714.4(IFT140):c.2993A>G (p.Gln998Arg) rs2141171936
NM_014714.4(IFT140):c.2997+11C>T rs551125772
NM_014714.4(IFT140):c.2997+12G>A rs200390733
NM_014714.4(IFT140):c.2997+12G>C
NM_014714.4(IFT140):c.2997+18G>A
NM_014714.4(IFT140):c.2997+1G>C
NM_014714.4(IFT140):c.2997+20G>A
NM_014714.4(IFT140):c.2997+2T>C
NM_014714.4(IFT140):c.2997+3A>G rs2040628786
NM_014714.4(IFT140):c.2997+6G>T
NM_014714.4(IFT140):c.2997+8C>A
NM_014714.4(IFT140):c.2997+8C>G rs372183503
NM_014714.4(IFT140):c.2998-14C>A
NM_014714.4(IFT140):c.2998-2del rs2141171226
NM_014714.4(IFT140):c.2998-4C>T rs764678988
NM_014714.4(IFT140):c.2T>C (p.Met1Thr)
NM_014714.4(IFT140):c.3003G>A (p.Ala1001=) rs151293332
NM_014714.4(IFT140):c.3003G>T (p.Ala1001=) rs151293332
NM_014714.4(IFT140):c.3006A>G (p.Gln1002=)
NM_014714.4(IFT140):c.3016G>C (p.Glu1006Gln) rs375292299
NM_014714.4(IFT140):c.3027C>T (p.Asn1009=)
NM_014714.4(IFT140):c.302C>T (p.Thr101Ile)
NM_014714.4(IFT140):c.3031G>A (p.Ala1011Thr)
NM_014714.4(IFT140):c.3032C>T (p.Ala1011Val)
NM_014714.4(IFT140):c.3036C>T (p.Ala1012=)
NM_014714.4(IFT140):c.3038C>T (p.Ser1013Phe) rs2141171017
NM_014714.4(IFT140):c.3045C>T (p.His1015=) rs2141170948
NM_014714.4(IFT140):c.304C>T (p.His102Tyr) rs1596461586
NM_014714.4(IFT140):c.3052C>T (p.Arg1018Cys) rs767290624
NM_014714.4(IFT140):c.3053G>A (p.Arg1018His)
NM_014714.4(IFT140):c.3053G>T (p.Arg1018Leu)
NM_014714.4(IFT140):c.3057G>A (p.Gln1019=)
NM_014714.4(IFT140):c.3059A>G (p.Tyr1020Cys)
NM_014714.4(IFT140):c.3060C>G (p.Tyr1020Ter)
NM_014714.4(IFT140):c.3068AGG[2] (p.Glu1025del)
NM_014714.4(IFT140):c.3078C>T (p.Val1026=)
NM_014714.4(IFT140):c.3080G>C (p.Gly1027Ala)
NM_014714.4(IFT140):c.3099C>T (p.Tyr1033=)
NM_014714.4(IFT140):c.3109C>G (p.Gln1037Glu) rs774547622
NM_014714.4(IFT140):c.3109C>T (p.Gln1037Ter) rs774547622
NM_014714.4(IFT140):c.3117C>T (p.Phe1039=) rs2141170386
NM_014714.4(IFT140):c.3123T>C (p.Asn1041=)
NM_014714.4(IFT140):c.3130C>T (p.Arg1044Cys)
NM_014714.4(IFT140):c.313G>A (p.Asp105Asn)
NM_014714.4(IFT140):c.3141+15G>C
NM_014714.4(IFT140):c.3141+16G>T
NM_014714.4(IFT140):c.3141+1G>T rs764770536
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.315C>G (p.Asp105Glu) rs772739900
NM_014714.4(IFT140):c.3164T>C (p.Leu1055Pro)
NM_014714.4(IFT140):c.316A>G (p.Ile106Val) rs1465706247
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.325C>T (p.Leu109Phe)
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.328C>A (p.Arg110Ser) rs140159548
NM_014714.4(IFT140):c.328C>T (p.Arg110Cys) rs140159548
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.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.341G>T (p.Ser114Ile)
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.3454-19C>T
NM_014714.4(IFT140):c.3454-20C>A rs2141148514
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.345A>G (p.Gly115=)
NM_014714.4(IFT140):c.347A>G (p.Asn116Ser)
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.359C>G (p.Ser120Cys) rs1457067377
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.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.369+11_369+12del
NM_014714.4(IFT140):c.369+15G>A
NM_014714.4(IFT140):c.369+16C>A
NM_014714.4(IFT140):c.369+20A>G
NM_014714.4(IFT140):c.369+4A>G rs752104483
NM_014714.4(IFT140):c.3691_3692del (p.Thr1231fs) rs2141145188
NM_014714.4(IFT140):c.3692C>T (p.Thr1231Met)
NM_014714.4(IFT140):c.370-10G>A
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.370-3_370-1delinsAA rs2035236903
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.378del (p.Leu127fs)
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.382C>G (p.Leu128Val)
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.387G>A (p.Leu129=) rs369420968
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.398A>C (p.Asp133Ala) rs2141916604
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.405G>A (p.Arg135=)
NM_014714.4(IFT140):c.406G>T (p.Gly136Cys) rs2035235540
NM_014714.4(IFT140):c.4077G>T (p.Gln1359His) rs1387346251
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.413T>G (p.Val138Gly)
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.41C>T (p.Ala14Val) rs2036120849
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.420G>A (p.Gly140=)
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.435A>G (p.Lys145=)
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(IFT140):c.438_440del (p.His146_Glu147delinsGln)
NM_014714.4(IFT140):c.454C>G (p.Leu152Val)
NM_014714.4(IFT140):c.456C>T (p.Leu152=)
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.46_57del (p.Gly16_Ser19del)
NM_014714.4(IFT140):c.473G>A (p.Arg158Gln)
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)
NM_014714.4(IFT140):c.478C>A (p.Pro160Thr)
NM_014714.4(IFT140):c.480C>A (p.Pro160=)
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)
NM_014714.4(IFT140):c.482C>T (p.Pro161Leu) rs191927317
NM_014714.4(IFT140):c.482dup (p.Pro162fs) rs763737398
NM_014714.4(IFT140):c.490G>T (p.Glu164Ter) rs559314300
NM_014714.4(IFT140):c.491+10G>A
NM_014714.4(IFT140):c.491+11G>T
NM_014714.4(IFT140):c.491+16G>A
NM_014714.4(IFT140):c.492-15C>G
NM_014714.4(IFT140):c.492-19G>A
NM_014714.4(IFT140):c.505T>C (p.Leu169=)
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.54C>G (p.Pro18=)
NM_014714.4(IFT140):c.54del (p.Ser19fs) rs2142100542
NM_014714.4(IFT140):c.554A>G (p.Asn185Ser) rs975918006
NM_014714.4(IFT140):c.560A>G (p.Lys187Arg) rs756417017
NM_014714.4(IFT140):c.565del (p.Ser189fs)
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)
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.609GTT[1] (p.Leu204del)
NM_014714.4(IFT140):c.624T>A (p.Ser208Arg) rs2035215270
NM_014714.4(IFT140):c.634+13G>C
NM_014714.4(IFT140):c.634+9C>G
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.644A>G (p.His215Arg)
NM_014714.4(IFT140):c.645C>G (p.His215Gln) rs2035078296
NM_014714.4(IFT140):c.659A>G (p.Lys220Arg)
NM_014714.4(IFT140):c.661G>A (p.Gly221Ser)
NM_014714.4(IFT140):c.676G>T (p.Val226Leu)
NM_014714.4(IFT140):c.678G>C (p.Val226=) rs1270248004
NM_014714.4(IFT140):c.681G>A (p.Val227=)
NM_014714.4(IFT140):c.683C>G (p.Ser228Cys) rs752659125
NM_014714.4(IFT140):c.700C>A (p.Gln234Lys)
NM_014714.4(IFT140):c.710T>C (p.Phe237Ser)
NM_014714.4(IFT140):c.715A>T (p.Met239Leu)
NM_014714.4(IFT140):c.718_720del (p.Glu240del)
NM_014714.4(IFT140):c.724A>C (p.Arg242=)
NM_014714.4(IFT140):c.72C>A (p.His24Gln) rs2036118371
NM_014714.4(IFT140):c.732A>C (p.Ala244=)
NM_014714.4(IFT140):c.73C>G (p.Pro25Ala) rs1408766601
NM_014714.4(IFT140):c.754C>T (p.Leu252Phe) rs886051768
NM_014714.4(IFT140):c.757C>T (p.Arg253Trp)
NM_014714.4(IFT140):c.76G>C (p.Val26Leu)
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.78C>G (p.Val26=)
NM_014714.4(IFT140):c.792A>G (p.Lys264=)
NM_014714.4(IFT140):c.797AAG[1] (p.Glu267del) rs2035068981
NM_014714.4(IFT140):c.810+14G>A
NM_014714.4(IFT140):c.810+6T>C rs2035068589
NM_014714.4(IFT140):c.810+7G>A
NM_014714.4(IFT140):c.810G>A (p.Lys270=)
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
NM_014714.4(IFT140):c.816G>A (p.Lys272=)
NM_014714.4(IFT140):c.831C>T (p.Thr277=)
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)
NM_014714.4(IFT140):c.849C>G (p.Ile283Met) rs563162000
NM_014714.4(IFT140):c.864C>A (p.Gly288=)
NM_014714.4(IFT140):c.864C>T (p.Gly288=)
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=)
NM_014714.4(IFT140):c.881C>T (p.Ala294Val) rs1452513681
NM_014714.4(IFT140):c.889G>T (p.Glu297Ter)
NM_014714.4(IFT140):c.895G>T (p.Ala299Ser)
NM_014714.4(IFT140):c.903-1G>A rs1567407044
NM_014714.4(IFT140):c.903-5T>A
NM_014714.4(IFT140):c.903-8T>C
NM_014714.4(IFT140):c.903-9C>T rs373647468
NM_014714.4(IFT140):c.910del (p.Asp304fs)
NM_014714.4(IFT140):c.912C>T (p.Asp304=)
NM_014714.4(IFT140):c.913A>G (p.Ile305Val)
NM_014714.4(IFT140):c.914T>C (p.Ile305Thr)
NM_014714.4(IFT140):c.919C>T (p.Arg307Ter) rs1307461796
NM_014714.4(IFT140):c.922G>A (p.Gly308Arg)
NM_014714.4(IFT140):c.927G>C (p.Glu309Asp) rs2141852274
NM_014714.4(IFT140):c.937C>G (p.Leu313Val) rs758052767
NM_014714.4(IFT140):c.939G>C (p.Leu313=)
NM_014714.4(IFT140):c.945A>G (p.Pro315=)
NM_014714.4(IFT140):c.94G>A (p.Val32Ile) rs770234866
NM_014714.4(IFT140):c.94G>C (p.Val32Leu)
NM_014714.4(IFT140):c.94G>T (p.Val32Phe)
NM_014714.4(IFT140):c.951G>A (p.Glu317=) rs2141851936
NM_014714.4(IFT140):c.973G>A (p.Glu325Lys)
NM_014714.4(IFT140):c.974A>G (p.Glu325Gly)
NM_014714.4(IFT140):c.975G>A (p.Glu325=) rs1330112951
NM_014714.4(IFT140):c.97G>A (p.Ala33Thr)
NM_014714.4(IFT140):c.986G>A (p.Cys329Tyr)
NM_014714.4(IFT140):c.989T>C (p.Val330Ala) rs2034932329
NM_014714.4(IFT140):c.997T>G (p.Cys333Gly)
NM_014714.4(IFT140):c.9C>G (p.Leu3=)

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