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=)
|
|
|