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