NM_153717.3(EVC):c.802-15del
|
rs369153323
|
0.10885
|
NM_015662.3(IFT172):c.337-12C>T
|
rs79529534
|
0.02365
|
NM_024753.5(TTC21B):c.2334C>T (p.Tyr778=)
|
rs79656636
|
0.01606
|
NM_001377.3(DYNC2H1):c.10461A>G (p.Gln3487=)
|
rs75143468
|
0.01568
|
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val)
|
rs75829835
|
0.01478
|
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu)
|
rs80026831
|
0.01296
|
NM_024753.5(TTC21B):c.838A>G (p.Met280Val)
|
rs112868646
|
0.01295
|
NM_014714.4(IFT140):c.2330T>G (p.Leu777Arg)
|
rs34535263
|
0.01269
|
NM_052989.3(IFT122):c.2154C>T (p.His718=)
|
rs116819033
|
0.01164
|
NM_153717.3(EVC):c.2363G>A (p.Arg788His)
|
rs73795088
|
0.01159
|
NM_014714.4(IFT140):c.3990G>A (p.Ala1330=)
|
rs61745103
|
0.01137
|
NM_014804.3(KIAA0753):c.2338C>T (p.Arg780Cys)
|
rs73342622
|
0.01124
|
NM_001377.3(DYNC2H1):c.6478-6C>T
|
rs114254215
|
0.01103
|
NM_015662.3(IFT172):c.571-15C>G
|
rs75809198
|
0.01015
|
NM_025132.4(WDR19):c.1581C>A (p.Thr527=)
|
rs114689848
|
0.00847
|
NM_015662.3(IFT172):c.1338T>C (p.Asn446=)
|
rs61743327
|
0.00780
|
NM_014804.3(KIAA0753):c.1756A>G (p.Lys586Glu)
|
rs61735441
|
0.00722
|
NM_024753.5(TTC21B):c.2322+3A>G
|
rs79037278
|
0.00575
|
NM_014714.4(IFT140):c.4040+11G>A
|
rs144624901
|
0.00530
|
NM_015662.3(IFT172):c.4272G>A (p.Gln1424=)
|
rs147850047
|
0.00526
|
NM_015662.3(IFT172):c.4659+16T>C
|
rs143060452
|
0.00514
|
NM_153717.3(EVC):c.469C>G (p.Pro157Ala)
|
rs146729456
|
0.00451
|
NM_052989.3(IFT122):c.2349C>A (p.Ile783=)
|
rs114357746
|
0.00442
|
NM_052989.3(IFT122):c.1908T>C (p.Ile636=)
|
rs139722192
|
0.00334
|
NM_014714.4(IFT140):c.2988T>C (p.Asn996=)
|
rs78178397
|
0.00290
|
NM_052989.3(IFT122):c.3432C>T (p.Ile1144=)
|
rs149884307
|
0.00277
|
NM_014714.4(IFT140):c.492-20C>T
|
rs149012740
|
0.00273
|
NM_001329943.3(KIAA0586):c.4629G>A (p.Ser1543=)
|
rs61745066
|
0.00272
|
NM_025132.4(WDR19):c.2142+12G>A
|
rs149621476
|
0.00246
|
NM_052844.4(DYNC2I2):c.1066G>A (p.Gly356Ser)
|
rs17849504
|
0.00244
|
NM_014714.4(IFT140):c.1524+14C>G
|
rs369481491
|
0.00241
|
NM_014804.3(KIAA0753):c.236T>C (p.Val79Ala)
|
rs201379908
|
0.00240
|
NM_153717.3(EVC):c.1500G>A (p.Met500Ile)
|
rs149898884
|
0.00163
|
NM_147127.5(EVC2):c.1471-6C>T
|
rs115466792
|
0.00162
|
NM_014714.4(IFT140):c.4040+15C>G
|
rs373703197
|
0.00160
|
NM_015662.3(IFT172):c.4755+9G>C
|
rs375261962
|
0.00135
|
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn)
|
rs150550701
|
0.00133
|
NM_014714.4(IFT140):c.2067+12C>T
|
rs201954701
|
0.00129
|
NM_024753.5(TTC21B):c.1867T>C (p.Leu623=)
|
rs140107312
|
0.00129
|
NM_014714.4(IFT140):c.1359+12G>C
|
rs150859038
|
0.00125
|
NM_052989.3(IFT122):c.3462G>A (p.Leu1154=)
|
rs150692598
|
0.00125
|
NM_001102564.3(IFT43):c.54+15G>T
|
rs372505367
|
0.00105
|
NM_015662.3(IFT172):c.2443-19A>G
|
rs199907803
|
0.00101
|
NM_015662.3(IFT172):c.2787+20C>T
|
rs200344602
|
0.00100
|
NM_001199397.3(NEK1):c.3213C>T (p.Asn1071=)
|
rs184324310
|
0.00098
|
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys)
|
rs200190291
|
0.00090
|
NM_020779.4(WDR35):c.2149A>G (p.Ile717Val)
|
rs144493712
|
0.00089
|
NM_001377.3(DYNC2H1):c.11905G>A (p.Val3969Ile)
|
rs189100009
|
0.00087
|
NM_015662.3(IFT172):c.2787+6G>A
|
rs75805075
|
0.00086
|
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile)
|
rs150887098
|
0.00081
|
NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His)
|
rs184256941
|
0.00078
|
NM_015662.3(IFT172):c.3186G>A (p.Val1062=)
|
rs143922405
|
0.00078
|
NM_014714.4(IFT140):c.1083C>T (p.Pro361=)
|
rs143014223
|
0.00077
|
NM_015662.3(IFT172):c.5161-20G>A
|
rs372154058
|
0.00076
|
NM_014714.4(IFT140):c.3900C>T (p.Tyr1300=)
|
rs148387007
|
0.00075
|
NM_020779.4(WDR35):c.853A>T (p.Ile285Phe)
|
rs200059077
|
0.00073
|
NM_015662.3(IFT172):c.899G>A (p.Arg300Gln)
|
rs146332658
|
0.00068
|
NM_025132.4(WDR19):c.2363+7C>T
|
rs190180293
|
0.00066
|
NM_025132.4(WDR19):c.3416A>G (p.Gln1139Arg)
|
rs75621037
|
0.00065
|
NM_024753.5(TTC21B):c.1697A>G (p.His566Arg)
|
rs146320075
|
0.00063
|
NM_024753.5(TTC21B):c.3932G>A (p.Arg1311His)
|
rs139327086
|
0.00056
|
NM_147127.5(EVC2):c.2060G>A (p.Arg687His)
|
rs144420242
|
0.00054
|
NM_001102564.3(IFT43):c.136C>T (p.Leu46=)
|
rs151137087
|
0.00052
|
NM_020800.3(IFT80):c.1771A>G (p.Ile591Val)
|
rs142518115
|
0.00051
|
NM_025132.4(WDR19):c.490G>A (p.Val164Ile)
|
rs199514431
|
0.00051
|
NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr)
|
rs200699325
|
0.00050
|
NM_052989.3(IFT122):c.3638T>C (p.Met1213Thr)
|
rs140623081
|
0.00050
|
NM_001102564.3(IFT43):c.486G>A (p.Ala162=)
|
rs143729954
|
0.00049
|
NM_015662.3(IFT172):c.2597A>G (p.Gln866Arg)
|
rs139229844
|
0.00049
|
NM_052989.3(IFT122):c.986C>T (p.Ala329Val)
|
rs200915373
|
0.00049
|
NM_014714.4(IFT140):c.2360A>G (p.Asp787Gly)
|
rs144938800
|
0.00048
|
NM_015662.3(IFT172):c.4666G>A (p.Val1556Met)
|
rs141098495
|
0.00048
|
NM_024753.5(TTC21B):c.880G>T (p.Ala294Ser)
|
rs141240501
|
0.00048
|
NM_147127.5(EVC2):c.2897C>T (p.Ser966Leu)
|
rs145425340
|
0.00046
|
NM_001102564.3(IFT43):c.383G>A (p.Arg128Gln)
|
rs138684775
|
0.00045
|
NM_020779.4(WDR35):c.3026C>G (p.Thr1009Arg)
|
rs201153804
|
0.00045
|
NM_014714.4(IFT140):c.2067G>A (p.Ala689=)
|
rs143537808
|
0.00043
|
NM_014714.4(IFT140):c.4208G>A (p.Arg1403Gln)
|
rs113216558
|
0.00043
|
NM_015662.3(IFT172):c.2023-15C>A
|
rs377630264
|
0.00043
|
NM_015662.3(IFT172):c.3674G>A (p.Arg1225Gln)
|
rs141440865
|
0.00041
|
NM_024753.5(TTC21B):c.2255A>G (p.Asn752Ser)
|
rs148222901
|
0.00041
|
NM_024753.5(TTC21B):c.2829A>G (p.Leu943=)
|
rs146009256
|
0.00041
|
NM_025132.4(WDR19):c.13+15G>A
|
rs150633358
|
0.00041
|
NM_153717.3(EVC):c.1892C>T (p.Thr631Met)
|
rs139481521
|
0.00041
|
NM_001102564.3(IFT43):c.369-18G>A
|
rs199590828
|
0.00040
|
NM_052989.3(IFT122):c.3266-19C>T
|
rs201753855
|
0.00040
|
NM_014714.4(IFT140):c.3661-18C>T
|
rs575501010
|
0.00039
|
NM_020800.3(IFT80):c.1883G>A (p.Arg628Gln)
|
rs150370681
|
0.00039
|
NM_052989.3(IFT122):c.1576C>T (p.Arg526Cys)
|
rs149578956
|
0.00039
|
NM_052989.3(IFT122):c.829C>T (p.Arg277Trp)
|
rs61744448
|
0.00038
|
NM_015662.3(IFT172):c.4363C>T (p.Arg1455Trp)
|
rs184506506
|
0.00036
|
NM_052989.3(IFT122):c.1252G>A (p.Asp418Asn)
|
rs148626512
|
0.00036
|
NM_052989.3(IFT122):c.2625C>T (p.Asn875=)
|
rs76572254
|
0.00036
|
NM_153717.3(EVC):c.1886+5G>T
|
rs794726665
|
0.00036
|
NM_001377.3(DYNC2H1):c.10648T>C (p.Ser3550Pro)
|
rs200460601
|
0.00035
|
NM_014714.4(IFT140):c.1359+20G>A
|
rs374488263
|
0.00035
|
NM_052989.3(IFT122):c.1310A>G (p.Asn437Ser)
|
rs142655964
|
0.00035
|
NM_001377.3(DYNC2H1):c.3665G>A (p.Gly1222Glu)
|
rs201194631
|
0.00034
|
NM_024753.5(TTC21B):c.3223G>C (p.Val1075Leu)
|
rs34925776
|
0.00034
|
NM_147127.5(EVC2):c.2310G>T (p.Trp770Cys)
|
rs572056540
|
0.00034
|
NM_001102564.3(IFT43):c.516C>T (p.Val172=)
|
rs372647793
|
0.00033
|
NM_001375405.1(CEP120):c.1431-11_1431-9del
|
rs776090638
|
0.00033
|
NM_153717.3(EVC):c.2132A>G (p.Glu711Gly)
|
rs373726507
|
0.00033
|
NM_015662.3(IFT172):c.1523G>A (p.Arg508His)
|
rs144868723
|
0.00030
|
NM_015662.3(IFT172):c.886C>T (p.Arg296Trp)
|
rs145541911
|
0.00030
|
NM_025132.4(WDR19):c.929A>G (p.Tyr310Cys)
|
rs199783864
|
0.00030
|
NM_014714.4(IFT140):c.3426G>A (p.Ala1142=)
|
rs202224171
|
0.00029
|
NM_015631.6(TCTN3):c.889-8G>A
|
rs374331871
|
0.00029
|
NM_052989.3(IFT122):c.417-16T>C
|
rs192128912
|
0.00029
|
NM_024753.5(TTC21B):c.2942G>A (p.Arg981His)
|
rs142022626
|
0.00028
|
NM_001006657.2(WDR35):c.1226C>T (p.Thr409Met)
|
rs143430766
|
0.00027
|
NM_001377.3(DYNC2H1):c.5473A>G (p.Ile1825Val)
|
rs201860217
|
0.00027
|
NM_020800.3(IFT80):c.371-19T>G
|
rs557249203
|
0.00027
|
NM_025132.4(WDR19):c.1039C>T (p.Leu347=)
|
rs201958863
|
0.00027
|
NM_025132.4(WDR19):c.3823C>G (p.Pro1275Ala)
|
rs200670161
|
0.00027
|
NM_001102564.3(IFT43):c.201C>T (p.Ser67=)
|
rs140127543
|
0.00026
|
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)
|
rs137853027
|
0.00026
|
NM_014714.4(IFT140):c.1331T>C (p.Met444Thr)
|
rs148663745
|
0.00026
|
NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu)
|
rs367930028
|
0.00026
|
NM_015662.3(IFT172):c.2949G>A (p.Lys983=)
|
rs141970363
|
0.00026
|
NM_015662.3(IFT172):c.3951+14G>T
|
rs376690357
|
0.00026
|
NM_015662.3(IFT172):c.987G>A (p.Thr329=)
|
rs376714689
|
0.00026
|
NM_001102564.3(IFT43):c.583C>T (p.Gln195Ter)
|
rs150616080
|
0.00025
|
NM_015662.3(IFT172):c.291A>C (p.Glu97Asp)
|
rs189236939
|
0.00025
|
NM_015662.3(IFT172):c.4290C>T (p.Cys1430=)
|
rs551376007
|
0.00025
|
NM_015662.3(IFT172):c.831G>C (p.Glu277Asp)
|
rs150938554
|
0.00025
|
NM_001102564.3(IFT43):c.92C>T (p.Ala31Val)
|
rs147933112
|
0.00024
|
NM_014714.4(IFT140):c.3173T>C (p.Leu1058Ser)
|
rs141471091
|
0.00024
|
NM_015631.6(TCTN3):c.283A>C (p.Thr95Pro)
|
rs749447795
|
0.00024
|
NM_015662.3(IFT172):c.2193+10T>A
|
rs368782783
|
0.00024
|
NM_015662.3(IFT172):c.3952-19C>T
|
rs367962098
|
0.00024
|
NM_020779.4(WDR35):c.1690C>T (p.Arg564Ter)
|
rs367810877
|
0.00024
|
NM_014714.4(IFT140):c.2768+17C>T
|
rs373280850
|
0.00023
|
NM_020779.4(WDR35):c.2458C>T (p.Arg820Cys)
|
rs141190788
|
0.00023
|
NM_014714.4(IFT140):c.179G>A (p.Arg60Lys)
|
rs148093208
|
0.00022
|
NM_024753.5(TTC21B):c.1272C>A (p.Asp424Glu)
|
rs533077805
|
0.00022
|
NM_014714.4(IFT140):c.3033G>A (p.Ala1011=)
|
rs148625428
|
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_015662.3(IFT172):c.2350C>T (p.Arg784Trp)
|
rs137906877
|
0.00021
|
NM_020800.3(IFT80):c.2158C>A (p.Gln720Lys)
|
rs201820395
|
0.00021
|
NM_052989.3(IFT122):c.1380C>T (p.Ser460=)
|
rs142641511
|
0.00021
|
NM_052989.3(IFT122):c.531G>A (p.Ser177=)
|
rs150496357
|
0.00021
|
NM_015662.3(IFT172):c.2521+11C>T
|
rs373403495
|
0.00020
|
NM_024753.5(TTC21B):c.468A>G (p.Gly156=)
|
rs139457042
|
0.00020
|
NM_025132.4(WDR19):c.3308G>A (p.Arg1103Gln)
|
rs567310076
|
0.00020
|
NM_052989.3(IFT122):c.2420C>T (p.Pro807Leu)
|
rs193183329
|
0.00020
|
NM_052989.3(IFT122):c.2424G>C (p.Leu808=)
|
rs148188237
|
0.00020
|
NM_001102564.3(IFT43):c.16G>C (p.Asp6His)
|
rs201966792
|
0.00019
|
NM_014714.4(IFT140):c.1417G>A (p.Ala473Thr)
|
rs149642543
|
0.00019
|
NM_014714.4(IFT140):c.4381G>A (p.Asp1461Asn)
|
rs201065562
|
0.00019
|
NM_015662.3(IFT172):c.235A>G (p.Thr79Ala)
|
rs752069515
|
0.00019
|
NM_015662.3(IFT172):c.4815+9G>A
|
rs199667794
|
0.00019
|
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter)
|
rs199952377
|
0.00019
|
NM_020779.4(WDR35):c.2065C>T (p.Arg689Cys)
|
rs140196566
|
0.00019
|
NM_025132.4(WDR19):c.3016A>G (p.Thr1006Ala)
|
rs199678654
|
0.00019
|
NM_052989.3(IFT122):c.2760G>A (p.Met920Ile)
|
rs374188891
|
0.00019
|
NM_052989.3(IFT122):c.478A>G (p.Asn160Asp)
|
rs199886551
|
0.00019
|
NM_001329943.3(KIAA0586):c.3003C>A (p.Asn1001Lys)
|
rs199537542
|
0.00018
|
NM_001377.3(DYNC2H1):c.7719C>T (p.Tyr2573=)
|
rs373903792
|
0.00018
|
NM_014714.4(IFT140):c.3543G>A (p.Ser1181=)
|
rs377427370
|
0.00018
|
NM_020779.4(WDR35):c.1330C>T (p.Arg444Cys)
|
rs148510977
|
0.00018
|
NM_001102564.3(IFT43):c.444+5G>A
|
rs377078385
|
0.00017
|
NM_001199397.3(NEK1):c.1925C>G (p.Ala642Gly)
|
rs529024280
|
0.00017
|
NM_014714.4(IFT140):c.1524+8G>A
|
rs369331038
|
0.00017
|
NM_015662.3(IFT172):c.2976-3C>T
|
rs371847154
|
0.00017
|
NM_015662.3(IFT172):c.3400C>T (p.Arg1134Trp)
|
rs139223261
|
0.00017
|
NM_015662.3(IFT172):c.3435T>G (p.His1145Gln)
|
rs202111577
|
0.00017
|
NM_024753.5(TTC21B):c.2339A>T (p.Glu780Val)
|
rs371940683
|
0.00017
|
NM_024753.5(TTC21B):c.2549C>T (p.Ala850Val)
|
rs199795649
|
0.00017
|
NM_024753.5(TTC21B):c.3787C>T (p.Arg1263Trp)
|
rs367690496
|
0.00017
|
NM_025132.4(WDR19):c.2720C>T (p.Ala907Val)
|
rs201967816
|
0.00017
|
NM_052989.3(IFT122):c.2599C>A (p.Pro867Thr)
|
rs144831946
|
0.00017
|
NM_001102564.3(IFT43):c.395A>T (p.Tyr132Phe)
|
rs201692401
|
0.00016
|
NM_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter)
|
rs943680446
|
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.3874-17G>A
|
rs376776316
|
0.00016
|
NM_024753.5(TTC21B):c.3131G>A (p.Arg1044Gln)
|
rs140908725
|
0.00016
|
NM_014714.4(IFT140):c.4205T>C (p.Met1402Thr)
|
rs202129528
|
0.00015
|
NM_015662.3(IFT172):c.3851G>A (p.Arg1284Gln)
|
rs147394910
|
0.00015
|
NM_015662.3(IFT172):c.5187C>T (p.Asp1729=)
|
rs143671920
|
0.00015
|
NM_015662.3(IFT172):c.706C>T (p.Arg236Cys)
|
rs146290725
|
0.00015
|
NM_020800.3(IFT80):c.758G>A (p.Arg253His)
|
rs144738877
|
0.00015
|
NM_024753.5(TTC21B):c.173G>A (p.Arg58Gln)
|
rs376163622
|
0.00015
|
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)
|
rs79436363
|
0.00015
|
NM_052989.3(IFT122):c.2458A>G (p.Ser820Gly)
|
rs755556032
|
0.00015
|
NM_052989.3(IFT122):c.3027C>T (p.Leu1009=)
|
rs373152133
|
0.00015
|
NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter)
|
rs181011657
|
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_015662.3(IFT172):c.4209G>C (p.Gln1403His)
|
rs149065251
|
0.00014
|
NM_015662.3(IFT172):c.590C>T (p.Pro197Leu)
|
rs368373262
|
0.00014
|
NM_020800.3(IFT80):c.655G>A (p.Gly219Ser)
|
rs201365447
|
0.00014
|
NM_024753.5(TTC21B):c.272C>A (p.Ala91Asp)
|
rs371376632
|
0.00014
|
NM_025132.4(WDR19):c.3435C>T (p.Ser1145=)
|
rs200659514
|
0.00014
|
NM_052989.3(IFT122):c.1430A>G (p.Lys477Arg)
|
rs141539693
|
0.00014
|
NM_052989.3(IFT122):c.2577G>A (p.Glu859=)
|
rs201077232
|
0.00014
|
NM_052989.3(IFT122):c.2715C>T (p.Ala905=)
|
rs143748879
|
0.00014
|
NM_014714.4(IFT140):c.128T>C (p.Val43Ala)
|
rs372148301
|
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.728A>G (p.Glu243Gly)
|
rs539181813
|
0.00013
|
NM_020779.4(WDR35):c.3349A>G (p.Ser1117Gly)
|
rs369515554
|
0.00013
|
NM_024753.5(TTC21B):c.441G>A (p.Leu147=)
|
rs147696806
|
0.00013
|
NM_025132.4(WDR19):c.2329A>G (p.Ile777Val)
|
rs373737104
|
0.00013
|
NM_025132.4(WDR19):c.3483+5G>A
|
rs201216969
|
0.00013
|
NM_014714.4(IFT140):c.2551G>A (p.Val851Met)
|
rs754753583
|
0.00012
|
NM_015662.3(IFT172):c.184-10A>T
|
rs546122503
|
0.00012
|
NM_015662.3(IFT172):c.2442+16T>A
|
rs189737111
|
0.00012
|
NM_015662.3(IFT172):c.39+13G>A
|
rs747789616
|
0.00012
|
NM_015662.3(IFT172):c.449G>C (p.Gly150Ala)
|
rs368343162
|
0.00012
|
NM_024753.5(TTC21B):c.3415G>A (p.Val1139Ile)
|
rs201162086
|
0.00012
|
NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp)
|
rs137852928
|
0.00012
|
NM_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr)
|
rs552436294
|
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.3383G>A (p.Arg1128His)
|
rs147661907
|
0.00011
|
NM_014714.4(IFT140):c.3668G>C (p.Arg1223Thr)
|
rs751861503
|
0.00011
|
NM_014714.4(IFT140):c.634+6G>C
|
rs368229365
|
0.00011
|
NM_015631.6(TCTN3):c.2T>G (p.Met1Arg)
|
rs373479905
|
0.00011
|
NM_015662.3(IFT172):c.146G>A (p.Arg49Gln)
|
rs151097967
|
0.00011
|
NM_015662.3(IFT172):c.1991A>G (p.Asn664Ser)
|
rs199631887
|
0.00011
|
NM_015662.3(IFT172):c.2159G>A (p.Arg720His)
|
rs202089120
|
0.00011
|
NM_015662.3(IFT172):c.2953G>A (p.Gly985Ser)
|
rs369780709
|
0.00011
|
NM_015662.3(IFT172):c.4564G>A (p.Glu1522Lys)
|
rs746340772
|
0.00011
|
NM_015662.3(IFT172):c.4996G>A (p.Glu1666Lys)
|
rs373098915
|
0.00011
|
NM_020779.4(WDR35):c.2164C>T (p.Arg722Cys)
|
rs374073530
|
0.00011
|
NM_020779.4(WDR35):c.2447G>A (p.Arg816Gln)
|
rs539243373
|
0.00011
|
NM_020800.3(IFT80):c.1204C>T (p.Arg402Cys)
|
rs190990464
|
0.00011
|
NM_024753.5(TTC21B):c.2937A>G (p.Leu979=)
|
rs138361451
|
0.00011
|
NM_024753.5(TTC21B):c.3631G>A (p.Ala1211Thr)
|
rs767696555
|
0.00011
|
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)
|
rs140511594
|
0.00011
|
NM_025132.4(WDR19):c.1796C>T (p.Ala599Val)
|
rs193273000
|
0.00011
|
NM_025132.4(WDR19):c.1797T>G (p.Ala599=)
|
rs373430338
|
0.00011
|
NM_025132.4(WDR19):c.3029A>G (p.Tyr1010Cys)
|
rs548534755
|
0.00011
|
NM_025132.4(WDR19):c.3683C>G (p.Ala1228Gly)
|
rs201051877
|
0.00011
|
NM_025132.4(WDR19):c.689A>C (p.Asp230Ala)
|
rs202232525
|
0.00011
|
NM_052989.3(IFT122):c.2987+15A>G
|
rs373111458
|
0.00011
|
NM_052989.3(IFT122):c.3131C>T (p.Ala1044Val)
|
rs147341636
|
0.00011
|
NM_052989.3(IFT122):c.416+12T>C
|
rs141969308
|
0.00011
|
NM_153717.3(EVC):c.2341G>A (p.Val781Met)
|
rs370514515
|
0.00011
|
NM_001199397.3(NEK1):c.642G>A (p.Lys214=)
|
rs369725706
|
0.00010
|
NM_014714.4(IFT140):c.1146G>A (p.Thr382=)
|
rs200975046
|
0.00010
|
NM_014714.4(IFT140):c.1975C>T (p.Arg659Trp)
|
rs749099710
|
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_015662.3(IFT172):c.3772G>A (p.Glu1258Lys)
|
rs529914770
|
0.00010
|
NM_015662.3(IFT172):c.4909G>A (p.Val1637Ile)
|
rs571686284
|
0.00010
|
NM_024753.5(TTC21B):c.1637C>T (p.Ser546Phe)
|
rs140323384
|
0.00010
|
NM_024753.5(TTC21B):c.437T>G (p.Val146Gly)
|
rs200916501
|
0.00010
|
NM_025132.4(WDR19):c.1064A>T (p.Asp355Val)
|
rs192495145
|
0.00010
|
NM_025132.4(WDR19):c.2464A>G (p.Ile822Val)
|
rs138364911
|
0.00010
|
NM_052989.3(IFT122):c.229G>A (p.Val77Ile)
|
rs369525803
|
0.00010
|
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter)
|
rs199947197
|
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.2844C>T (p.Tyr948=)
|
rs777036003
|
0.00009
|
NM_014714.4(IFT140):c.37G>T (p.Asp13Tyr)
|
rs554065722
|
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_015662.3(IFT172):c.145C>T (p.Arg49Trp)
|
rs141043554
|
0.00009
|
NM_015662.3(IFT172):c.1608C>T (p.Asp536=)
|
rs749114212
|
0.00009
|
NM_015662.3(IFT172):c.2122G>A (p.Val708Met)
|
rs140506322
|
0.00009
|
NM_015662.3(IFT172):c.2131G>A (p.Ala711Thr)
|
rs144620711
|
0.00009
|
NM_015662.3(IFT172):c.247A>G (p.Ile83Val)
|
rs142227350
|
0.00009
|
NM_015662.3(IFT172):c.3538C>T (p.His1180Tyr)
|
rs746868013
|
0.00009
|
NM_015662.3(IFT172):c.4210G>A (p.Gly1404Ser)
|
rs763238244
|
0.00009
|
NM_015662.3(IFT172):c.5128G>A (p.Asp1710Asn)
|
rs542662514
|
0.00009
|
NM_020779.4(WDR35):c.725A>G (p.Glu242Gly)
|
rs139543775
|
0.00009
|
NM_020800.3(IFT80):c.1052C>T (p.Thr351Met)
|
rs199778285
|
0.00009
|
NM_024753.5(TTC21B):c.1195T>C (p.Tyr399His)
|
rs187985767
|
0.00009
|
NM_024753.5(TTC21B):c.14A>C (p.Glu5Ala)
|
rs778812789
|
0.00009
|
NM_024753.5(TTC21B):c.1883G>A (p.Arg628His)
|
rs139653847
|
0.00009
|
NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter)
|
rs79746977
|
0.00009
|
NM_024753.5(TTC21B):c.2606A>G (p.Gln869Arg)
|
rs137926033
|
0.00009
|
NM_024753.5(TTC21B):c.2895A>T (p.Lys965Asn)
|
rs146201603
|
0.00009
|
NM_024753.5(TTC21B):c.3673C>T (p.Arg1225Cys)
|
rs377393152
|
0.00009
|
NM_024753.5(TTC21B):c.453T>G (p.Leu151=)
|
rs148935124
|
0.00009
|
NM_024753.5(TTC21B):c.553-20C>G
|
rs376144362
|
0.00009
|
NM_025132.4(WDR19):c.1250-1G>A
|
rs1327583103
|
0.00009
|
NM_025132.4(WDR19):c.3967G>A (p.Ala1323Thr)
|
rs563367049
|
0.00009
|
NM_025132.4(WDR19):c.99-11A>C
|
rs756899296
|
0.00009
|
NM_052989.3(IFT122):c.2992A>G (p.Ile998Val)
|
rs115715082
|
0.00009
|
NM_052989.3(IFT122):c.3698G>A (p.Arg1233His)
|
rs201755623
|
0.00009
|
NM_052989.3(IFT122):c.565C>T (p.Arg189Ter)
|
rs138329739
|
0.00009
|
NM_147127.5(EVC2):c.2077G>A (p.Val693Ile)
|
rs199824658
|
0.00009
|
NM_001102564.3(IFT43):c.445-15T>C
|
rs745766333
|
0.00008
|
NM_001377.3(DYNC2H1):c.7794A>G (p.Pro2598=)
|
rs781691287
|
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.2407G>A (p.Val803Ile)
|
rs538791217
|
0.00008
|
NM_014714.4(IFT140):c.2543G>A (p.Arg848His)
|
rs746743309
|
0.00008
|
NM_014714.4(IFT140):c.3639G>A (p.Thr1213=)
|
rs747655543
|
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_015662.3(IFT172):c.1331G>A (p.Arg444His)
|
rs751965696
|
0.00008
|
NM_015662.3(IFT172):c.1829G>A (p.Arg610Gln)
|
rs144890293
|
0.00008
|
NM_015662.3(IFT172):c.1983T>A (p.His661Gln)
|
rs150739354
|
0.00008
|
NM_015662.3(IFT172):c.2103C>A (p.Ile701=)
|
rs138604630
|
0.00008
|
NM_015662.3(IFT172):c.3933G>A (p.Ala1311=)
|
rs143011753
|
0.00008
|
NM_015662.3(IFT172):c.732C>T (p.Thr244=)
|
rs778790509
|
0.00008
|
NM_020779.4(WDR35):c.66G>T (p.Trp22Cys)
|
rs201860485
|
0.00008
|
NM_020800.3(IFT80):c.691C>T (p.Pro231Ser)
|
rs149447674
|
0.00008
|
NM_024753.5(TTC21B):c.234A>G (p.Ile78Met)
|
rs139885689
|
0.00008
|
NM_024753.5(TTC21B):c.3552G>A (p.Ala1184=)
|
rs148113339
|
0.00008
|
NM_024753.5(TTC21B):c.795+3A>G
|
rs753275145
|
0.00008
|
NM_025132.4(WDR19):c.1127T>C (p.Val376Ala)
|
rs773816730
|
0.00008
|
NM_025132.4(WDR19):c.2159A>G (p.Asn720Ser)
|
rs772687020
|
0.00008
|
NM_025132.4(WDR19):c.3436G>A (p.Glu1146Lys)
|
rs779635441
|
0.00008
|
NM_052989.3(IFT122):c.2600C>T (p.Pro867Leu)
|
rs147499719
|
0.00008
|
NM_052989.3(IFT122):c.938G>A (p.Arg313Gln)
|
rs376018883
|
0.00008
|
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter)
|
rs137852927
|
0.00008
|
NM_147127.5(EVC2):c.530C>T (p.Ser177Leu)
|
rs145758016
|
0.00008
|
NM_001102564.3(IFT43):c.328C>T (p.Gln110Ter)
|
rs201794999
|
0.00007
|
NM_001382391.1(CSPP1):c.1793C>T (p.Ser598Leu)
|
rs752648207
|
0.00007
|
NM_001382391.1(CSPP1):c.958A>G (p.Met320Val)
|
rs775759544
|
0.00007
|
NM_014714.4(IFT140):c.1376G>C (p.Trp459Ser)
|
rs778311141
|
0.00007
|
NM_014714.4(IFT140):c.1876T>C (p.Ser626Pro)
|
rs200765913
|
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.2786C>T (p.Thr929Met)
|
rs757585192
|
0.00007
|
NM_014714.4(IFT140):c.2876G>A (p.Arg959Gln)
|
rs148240226
|
0.00007
|
NM_014714.4(IFT140):c.4318C>T (p.Arg1440Cys)
|
rs758535401
|
0.00007
|
NM_015662.3(IFT172):c.2668G>A (p.Ala890Thr)
|
rs202216329
|
0.00007
|
NM_015662.3(IFT172):c.3711+17A>G
|
rs376488082
|
0.00007
|
NM_015662.3(IFT172):c.623A>G (p.Asn208Ser)
|
rs771817287
|
0.00007
|
NM_024753.5(TTC21B):c.2568+17G>T
|
rs370340216
|
0.00007
|
NM_024753.5(TTC21B):c.3819A>G (p.Ala1273=)
|
rs373891320
|
0.00007
|
NM_024753.5(TTC21B):c.970T>G (p.Ser324Ala)
|
rs762885961
|
0.00007
|
NM_025132.4(WDR19):c.1391G>A (p.Arg464His)
|
rs369201153
|
0.00007
|
NM_025132.4(WDR19):c.3261+20C>T
|
rs547317070
|
0.00007
|
NM_025132.4(WDR19):c.3358+14A>G
|
rs372822923
|
0.00007
|
NM_025132.4(WDR19):c.479A>G (p.Lys160Arg)
|
rs756321262
|
0.00007
|
NM_052989.3(IFT122):c.1489-16G>A
|
rs576753615
|
0.00007
|
NM_052989.3(IFT122):c.2215C>T (p.Leu739Phe)
|
rs763332787
|
0.00007
|
NM_052989.3(IFT122):c.2315T>A (p.Ile772Asn)
|
rs371325633
|
0.00007
|
NM_052989.3(IFT122):c.2375+13C>T
|
rs749785449
|
0.00007
|
NM_052989.3(IFT122):c.272+1G>A
|
rs372483083
|
0.00007
|
NM_147127.5(EVC2):c.1470+3A>T
|
rs370769794
|
0.00007
|
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn)
|
rs180747811
|
0.00007
|
NM_001102564.3(IFT43):c.459C>A (p.Asp153Glu)
|
rs778799892
|
0.00006
|
NM_001102564.3(IFT43):c.517G>A (p.Gly173Ser)
|
rs554856028
|
0.00006
|
NM_001102564.3(IFT43):c.55-17T>C
|
rs200685248
|
0.00006
|
NM_001377.3(DYNC2H1):c.4762+20T>C
|
rs750684131
|
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.1377G>A (p.Trp459Ter)
|
rs140039128
|
0.00006
|
NM_014714.4(IFT140):c.1401C>T (p.Phe467=)
|
rs368477699
|
0.00006
|
NM_014714.4(IFT140):c.2399+1G>T
|
rs376586707
|
0.00006
|
NM_014714.4(IFT140):c.2645C>T (p.Ala882Val)
|
rs200394007
|
0.00006
|
NM_014714.4(IFT140):c.337C>T (p.Pro113Ser)
|
rs756324852
|
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.4379A>G (p.Asp1460Gly)
|
rs771632573
|
0.00006
|
NM_014714.4(IFT140):c.778C>T (p.Pro260Ser)
|
rs369671309
|
0.00006
|
NM_014714.4(IFT140):c.903-17G>T
|
rs377542255
|
0.00006
|
NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=)
|
rs752659088
|
0.00006
|
NM_015631.6(TCTN3):c.970G>A (p.Val324Ile)
|
rs769275482
|
0.00006
|
NM_015662.3(IFT172):c.1006-10C>T
|
rs545781319
|
0.00006
|
NM_015662.3(IFT172):c.1445T>G (p.Val482Gly)
|
rs61740250
|
0.00006
|
NM_015662.3(IFT172):c.2522C>T (p.Ala841Val)
|
rs762431558
|
0.00006
|
NM_015662.3(IFT172):c.3921C>T (p.Asn1307=)
|
rs377211687
|
0.00006
|
NM_015662.3(IFT172):c.4284C>G (p.Asp1428Glu)
|
rs199502476
|
0.00006
|
NM_015662.3(IFT172):c.4307A>C (p.Lys1436Thr)
|
rs377646246
|
0.00006
|
NM_015662.3(IFT172):c.4408G>A (p.Gly1470Arg)
|
rs146047876
|
0.00006
|
NM_015662.3(IFT172):c.442A>G (p.Ile148Val)
|
rs759861487
|
0.00006
|
NM_015662.3(IFT172):c.877G>A (p.Ala293Thr)
|
rs370903625
|
0.00006
|
NM_015662.3(IFT172):c.915A>G (p.Thr305=)
|
rs180855666
|
0.00006
|
NM_020779.4(WDR35):c.1250A>T (p.Asp417Val)
|
rs371757004
|
0.00006
|
NM_020779.4(WDR35):c.1376G>A (p.Arg459Gln)
|
rs146380332
|
0.00006
|
NM_020779.4(WDR35):c.2644G>A (p.Val882Ile)
|
rs377535267
|
0.00006
|
NM_020779.4(WDR35):c.3193T>A (p.Cys1065Ser)
|
rs200258619
|
0.00006
|
NM_020800.3(IFT80):c.2100G>C (p.Arg700Ser)
|
rs373671362
|
0.00006
|
NM_024753.5(TTC21B):c.1528G>C (p.Ala510Pro)
|
rs200505317
|
0.00006
|
NM_024753.5(TTC21B):c.1538A>G (p.Asn513Ser)
|
rs200137653
|
0.00006
|
NM_024753.5(TTC21B):c.1743C>T (p.Asp581=)
|
rs200990862
|
0.00006
|
NM_024753.5(TTC21B):c.1875C>T (p.Asp625=)
|
rs201527373
|
0.00006
|
NM_024753.5(TTC21B):c.2176C>A (p.Leu726Ile)
|
rs762535321
|
0.00006
|
NM_024753.5(TTC21B):c.2230G>C (p.Ala744Pro)
|
rs150783918
|
0.00006
|
NM_024753.5(TTC21B):c.2378A>G (p.Tyr793Cys)
|
rs763158250
|
0.00006
|
NM_024753.5(TTC21B):c.575A>G (p.Gln192Arg)
|
rs769057187
|
0.00006
|
NM_024753.5(TTC21B):c.703G>C (p.Ala235Pro)
|
rs150742619
|
0.00006
|
NM_025132.4(WDR19):c.1118C>G (p.Ala373Gly)
|
rs371744495
|
0.00006
|
NM_025132.4(WDR19):c.1172A>G (p.Asn391Ser)
|
rs758716599
|
0.00006
|
NM_025132.4(WDR19):c.1639G>A (p.Ala547Thr)
|
rs754631759
|
0.00006
|
NM_025132.4(WDR19):c.2455C>A (p.Gln819Lys)
|
rs779337768
|
0.00006
|
NM_025132.4(WDR19):c.785G>A (p.Gly262Glu)
|
rs778096567
|
0.00006
|
NM_025132.4(WDR19):c.842T>C (p.Ile281Thr)
|
rs369657594
|
0.00006
|
NM_025132.4(WDR19):c.880G>A (p.Gly294Arg)
|
rs377160857
|
0.00006
|
NM_052989.3(IFT122):c.1758C>G (p.His586Gln)
|
rs141889207
|
0.00006
|
NM_052989.3(IFT122):c.1760G>A (p.Arg587Gln)
|
rs146270512
|
0.00006
|
NM_052989.3(IFT122):c.1940G>A (p.Arg647His)
|
rs750301228
|
0.00006
|
NM_052989.3(IFT122):c.273-268A>T
|
rs376246143
|
0.00006
|
NM_052989.3(IFT122):c.3232C>T (p.Arg1078Cys)
|
rs771499492
|
0.00006
|
NM_052989.3(IFT122):c.475C>T (p.Arg159Trp)
|
rs140547512
|
0.00006
|
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter)
|
rs767072839
|
0.00006
|
NM_147127.5(EVC2):c.1399G>A (p.Glu467Lys)
|
rs377461598
|
0.00006
|
NM_001102564.3(IFT43):c.397C>T (p.Arg133Cys)
|
rs372547166
|
0.00005
|
NM_001377.3(DYNC2H1):c.2422G>A (p.Gly808Ser)
|
rs372055203
|
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.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.4274G>A (p.Arg1425Gln)
|
rs150276786
|
0.00005
|
NM_014714.4(IFT140):c.594G>A (p.Gly198=)
|
rs754896534
|
0.00005
|
NM_014714.4(IFT140):c.832G>A (p.Gly278Ser)
|
rs141986611
|
0.00005
|
NM_015662.3(IFT172):c.2036C>T (p.Thr679Ile)
|
rs369169776
|
0.00005
|
NM_015662.3(IFT172):c.2351G>A (p.Arg784Gln)
|
rs370097039
|
0.00005
|
NM_015662.3(IFT172):c.3372-3C>T
|
rs150011917
|
0.00005
|
NM_015662.3(IFT172):c.3643G>A (p.Asp1215Asn)
|
rs777398021
|
0.00005
|
NM_015662.3(IFT172):c.4448G>A (p.Arg1483Lys)
|
rs201356906
|
0.00005
|
NM_015662.3(IFT172):c.4622A>G (p.Tyr1541Cys)
|
rs138003766
|
0.00005
|
NM_020779.4(WDR35):c.215-4C>G
|
rs369080910
|
0.00005
|
NM_020779.4(WDR35):c.2415-2A>G
|
rs143550695
|
0.00005
|
NM_020779.4(WDR35):c.2515A>G (p.Ile839Val)
|
rs763618858
|
0.00005
|
NM_020779.4(WDR35):c.2842A>T (p.Lys948Ter)
|
rs749233041
|
0.00005
|
NM_020779.4(WDR35):c.994C>T (p.Arg332Ter)
|
rs199840434
|
0.00005
|
NM_020800.3(IFT80):c.1205G>A (p.Arg402His)
|
rs147955112
|
0.00005
|
NM_020800.3(IFT80):c.2014A>G (p.Ile672Val)
|
rs767128122
|
0.00005
|
NM_020800.3(IFT80):c.2099+4A>G
|
rs754398043
|
0.00005
|
NM_020800.3(IFT80):c.2156G>A (p.Arg719His)
|
rs551983792
|
0.00005
|
NM_024753.5(TTC21B):c.2356G>A (p.Gly786Arg)
|
rs202087501
|
0.00005
|
NM_024753.5(TTC21B):c.2398T>C (p.Leu800=)
|
rs781367281
|
0.00005
|
NM_024753.5(TTC21B):c.2569G>A (p.Ala857Thr)
|
rs190101048
|
0.00005
|
NM_024753.5(TTC21B):c.2611G>A (p.Glu871Lys)
|
rs757730050
|
0.00005
|
NM_024753.5(TTC21B):c.2913dup (p.Val972fs)
|
rs867205119
|
0.00005
|
NM_024753.5(TTC21B):c.2951-4C>T
|
rs369065819
|
0.00005
|
NM_024753.5(TTC21B):c.3707A>G (p.Tyr1236Cys)
|
rs144130537
|
0.00005
|
NM_025132.4(WDR19):c.1734T>A (p.Asp578Glu)
|
rs571678102
|
0.00005
|
NM_025132.4(WDR19):c.2450T>A (p.Val817Glu)
|
rs749621367
|
0.00005
|
NM_025132.4(WDR19):c.3280C>T (p.Arg1094Cys)
|
rs757564170
|
0.00005
|
NM_025132.4(WDR19):c.522+13C>T
|
rs374417243
|
0.00005
|
NM_025132.4(WDR19):c.592G>A (p.Ala198Thr)
|
rs575149055
|
0.00005
|
NM_025132.4(WDR19):c.962-11G>A
|
rs537505873
|
0.00005
|
NM_052989.3(IFT122):c.3046C>T (p.Arg1016Trp)
|
rs776052135
|
0.00005
|
NM_052989.3(IFT122):c.3217G>A (p.Val1073Ile)
|
rs138028750
|
0.00005
|
NM_052989.3(IFT122):c.3594G>T (p.Leu1198=)
|
rs775936679
|
0.00005
|
NM_052989.3(IFT122):c.876C>T (p.Gly292=)
|
rs768782991
|
0.00005
|
NM_052989.3(IFT122):c.937C>T (p.Arg313Trp)
|
rs755493101
|
0.00005
|
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter)
|
rs769864196
|
0.00005
|
NM_001102564.3(IFT43):c.104A>G (p.Asn35Ser)
|
rs144327903
|
0.00004
|
NM_001102564.3(IFT43):c.570G>A (p.Glu190=)
|
rs201394224
|
0.00004
|
NM_001102564.3(IFT43):c.587C>T (p.Thr196Met)
|
rs759241440
|
0.00004
|
NM_001377.3(DYNC2H1):c.12829A>G (p.Arg4277Gly)
|
rs368654019
|
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.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.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.2119C>T (p.Leu707Phe)
|
rs141172132
|
0.00004
|
NM_014714.4(IFT140):c.2400-13C>T
|
rs558510749
|
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.2516C>T (p.Ala839Val)
|
rs145609033
|
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.3235G>A (p.Val1079Met)
|
rs146537096
|
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.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.4037G>A (p.Arg1346His)
|
rs144050063
|
0.00004
|
NM_014714.4(IFT140):c.4377_4378insA (p.Asp1460fs)
|
rs753109181
|
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.903-5T>G
|
rs900599017
|
0.00004
|
NM_015631.6(TCTN3):c.1520dup (p.Gly508fs)
|
rs755903123
|
0.00004
|
NM_015662.3(IFT172):c.112C>T (p.Arg38Ter)
|
rs139021548
|
0.00004
|
NM_015662.3(IFT172):c.1157G>A (p.Arg386Gln)
|
rs137868356
|
0.00004
|
NM_015662.3(IFT172):c.1247A>G (p.Glu416Gly)
|
rs779907319
|
0.00004
|
NM_015662.3(IFT172):c.1513C>T (p.Arg505Trp)
|
rs779152335
|
0.00004
|
NM_015662.3(IFT172):c.1691G>A (p.Arg564Lys)
|
rs148710037
|
0.00004
|
NM_015662.3(IFT172):c.1720G>A (p.Gly574Arg)
|
rs762521619
|
0.00004
|
NM_015662.3(IFT172):c.184-6T>A
|
rs371658303
|
0.00004
|
NM_015662.3(IFT172):c.1964C>T (p.Ala655Val)
|
rs370407165
|
0.00004
|
NM_015662.3(IFT172):c.2014C>T (p.Arg672Trp)
|
rs201921339
|
0.00004
|
NM_015662.3(IFT172):c.2222G>A (p.Arg741His)
|
rs1011923461
|
0.00004
|
NM_015662.3(IFT172):c.2818C>T (p.Arg940Trp)
|
rs760316903
|
0.00004
|
NM_015662.3(IFT172):c.2857C>T (p.Arg953Cys)
|
rs762645007
|
0.00004
|
NM_015662.3(IFT172):c.318C>T (p.Cys106=)
|
rs772983278
|
0.00004
|
NM_015662.3(IFT172):c.3268G>A (p.Val1090Met)
|
rs76076247
|
0.00004
|
NM_015662.3(IFT172):c.3549T>C (p.Asp1183=)
|
rs566100277
|
0.00004
|
NM_015662.3(IFT172):c.3713A>C (p.Glu1238Ala)
|
rs553301895
|
0.00004
|
NM_015662.3(IFT172):c.4492G>A (p.Glu1498Lys)
|
rs557292146
|
0.00004
|
NM_015662.3(IFT172):c.4673C>T (p.Ala1558Val)
|
rs757464563
|
0.00004
|
NM_015662.3(IFT172):c.4811C>T (p.Thr1604Ile)
|
rs115716101
|
0.00004
|
NM_015662.3(IFT172):c.4867A>G (p.Thr1623Ala)
|
rs750991615
|
0.00004
|
NM_015662.3(IFT172):c.5000G>A (p.Arg1667His)
|
rs201017771
|
0.00004
|
NM_015662.3(IFT172):c.5104C>T (p.Arg1702Trp)
|
rs560831644
|
0.00004
|
NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg)
|
rs149614625
|
0.00004
|
NM_015662.3(IFT172):c.926G>C (p.Gly309Ala)
|
rs749612277
|
0.00004
|
NM_020779.4(WDR35):c.1255+1G>A
|
rs371669862
|
0.00004
|
NM_020779.4(WDR35):c.2891C>G (p.Ala964Gly)
|
rs1281384371
|
0.00004
|
NM_020779.4(WDR35):c.958C>A (p.Leu320Ile)
|
rs573430534
|
0.00004
|
NM_020800.3(IFT80):c.634T>C (p.Tyr212His)
|
rs756009771
|
0.00004
|
NM_020800.3(IFT80):c.659G>A (p.Arg220His)
|
rs754818191
|
0.00004
|
NM_024753.5(TTC21B):c.1573T>C (p.Tyr525His)
|
rs377009251
|
0.00004
|
NM_024753.5(TTC21B):c.172C>T (p.Arg58Ter)
|
rs771232897
|
0.00004
|
NM_024753.5(TTC21B):c.1847G>A (p.Arg616His)
|
rs780307963
|
0.00004
|
NM_024753.5(TTC21B):c.1963C>T (p.Arg655Trp)
|
rs138937289
|
0.00004
|
NM_024753.5(TTC21B):c.2060T>G (p.Phe687Cys)
|
rs370846838
|
0.00004
|
NM_024753.5(TTC21B):c.2272T>C (p.Leu758=)
|
rs111228450
|
0.00004
|
NM_024753.5(TTC21B):c.2580A>G (p.Leu860=)
|
rs201563244
|
0.00004
|
NM_024753.5(TTC21B):c.3003A>C (p.Lys1001Asn)
|
rs377209277
|
0.00004
|
NM_024753.5(TTC21B):c.3182A>G (p.Tyr1061Cys)
|
rs200280772
|
0.00004
|
NM_024753.5(TTC21B):c.3556A>G (p.Met1186Val)
|
rs376308209
|
0.00004
|
NM_024753.5(TTC21B):c.361A>G (p.Ile121Val)
|
rs373353875
|
0.00004
|
NM_024753.5(TTC21B):c.3788G>A (p.Arg1263Gln)
|
rs201495700
|
0.00004
|
NM_024753.5(TTC21B):c.913A>G (p.Ile305Val)
|
rs140899101
|
0.00004
|
NM_025132.4(WDR19):c.1122_1123insT (p.Pro375fs)
|
rs1353172956
|
0.00004
|
NM_025132.4(WDR19):c.1390C>T (p.Arg464Cys)
|
rs201148758
|
0.00004
|
NM_025132.4(WDR19):c.1962A>G (p.Ala654=)
|
rs770818331
|
0.00004
|
NM_025132.4(WDR19):c.2362G>A (p.Ala788Thr)
|
rs768082694
|
0.00004
|
NM_025132.4(WDR19):c.2607C>T (p.Tyr869=)
|
rs371645967
|
0.00004
|
NM_025132.4(WDR19):c.2742T>C (p.Ala914=)
|
rs753812144
|
0.00004
|
NM_025132.4(WDR19):c.3281G>A (p.Arg1094His)
|
rs781620821
|
0.00004
|
NM_025132.4(WDR19):c.3474A>G (p.Ile1158Met)
|
rs760312911
|
0.00004
|
NM_025132.4(WDR19):c.3502G>A (p.Asp1168Asn)
|
rs750250561
|
0.00004
|
NM_025132.4(WDR19):c.3532C>T (p.Arg1178Trp)
|
rs754690461
|
0.00004
|
NM_025132.4(WDR19):c.427A>T (p.Thr143Ser)
|
rs1300821144
|
0.00004
|
NM_025132.4(WDR19):c.641T>A (p.Leu214Ter)
|
rs751290509
|
0.00004
|
NM_025132.4(WDR19):c.781dup (p.Thr261fs)
|
rs748656635
|
0.00004
|
NM_025132.4(WDR19):c.817A>G (p.Asn273Asp)
|
rs375644378
|
0.00004
|
NM_052989.3(IFT122):c.1294A>G (p.Lys432Glu)
|
rs781181264
|
0.00004
|
NM_052989.3(IFT122):c.2383G>A (p.Asp795Asn)
|
rs76007598
|
0.00004
|
NM_052989.3(IFT122):c.2681C>T (p.Ala894Val)
|
rs376549217
|
0.00004
|
NM_052989.3(IFT122):c.2720C>T (p.Ala907Val)
|
rs377690924
|
0.00004
|
NM_052989.3(IFT122):c.273-346C>T
|
rs778846137
|
0.00004
|
NM_052989.3(IFT122):c.2895G>A (p.Pro965=)
|
rs771092154
|
0.00004
|
NM_052989.3(IFT122):c.2904C>T (p.Val968=)
|
rs140575442
|
0.00004
|
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro)
|
rs199622112
|
0.00004
|
NM_052989.3(IFT122):c.3056A>G (p.Tyr1019Cys)
|
rs553449191
|
0.00004
|
NM_052989.3(IFT122):c.3073C>G (p.Leu1025Val)
|
rs778888913
|
0.00004
|
NM_052989.3(IFT122):c.3194C>T (p.Pro1065Leu)
|
rs368574590
|
0.00004
|
NM_052989.3(IFT122):c.349+5G>A
|
rs376595844
|
0.00004
|
NM_052989.3(IFT122):c.524C>T (p.Ser175Phe)
|
rs777645844
|
0.00004
|
NM_052989.3(IFT122):c.752A>G (p.Asn251Ser)
|
rs754782458
|
0.00004
|
NM_052989.3(IFT122):c.849C>T (p.Pro283=)
|
rs771115196
|
0.00004
|
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter)
|
rs137852924
|
0.00004
|
NM_147127.5(EVC2):c.229-2A>G
|
rs769799880
|
0.00004
|
NM_153717.3(EVC):c.580C>T (p.Arg194Trp)
|
rs757990300
|
0.00004
|
NM_001102564.3(IFT43):c.365C>T (p.Pro122Leu)
|
rs202182087
|
0.00003
|
NM_001102564.3(IFT43):c.501C>A (p.Val167=)
|
rs1248117843
|
0.00003
|
NM_001377.3(DYNC2H1):c.1151C>T (p.Ala384Val)
|
rs369614706
|
0.00003
|
NM_001377.3(DYNC2H1):c.12410C>G (p.Pro4137Arg)
|
rs761765709
|
0.00003
|
NM_001377.3(DYNC2H1):c.12439C>T (p.Arg4147Cys)
|
rs755441612
|
0.00003
|
NM_001377.3(DYNC2H1):c.3746A>T (p.Asp1249Val)
|
rs371037205
|
0.00003
|
NM_001377.3(DYNC2H1):c.4267C>T (p.Arg1423Cys)
|
rs745870321
|
0.00003
|
NM_014714.4(IFT140):c.1145C>T (p.Thr382Met)
|
rs780000949
|
0.00003
|
NM_014714.4(IFT140):c.1306G>T (p.Val436Phe)
|
rs764912104
|
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.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.2138G>A (p.Arg713Gln)
|
rs200440483
|
0.00003
|
NM_014714.4(IFT140):c.215C>T (p.Thr72Met)
|
rs774892063
|
0.00003
|
NM_014714.4(IFT140):c.2425C>T (p.Arg809Cys)
|
rs755748472
|
0.00003
|
NM_014714.4(IFT140):c.2611C>T (p.Arg871Cys)
|
rs767213195
|
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.3103C>T (p.Arg1035Trp)
|
rs141818893
|
0.00003
|
NM_014714.4(IFT140):c.3560C>T (p.Ser1187Leu)
|
rs952706482
|
0.00003
|
NM_014714.4(IFT140):c.3719T>C (p.Val1240Ala)
|
rs149521576
|
0.00003
|
NM_014714.4(IFT140):c.4041-5G>A
|
rs754813435
|
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.508G>A (p.Ala170Thr)
|
rs145551546
|
0.00003
|
NM_015662.3(IFT172):c.1056C>G (p.His352Gln)
|
rs145847794
|
0.00003
|
NM_015662.3(IFT172):c.1432A>G (p.Asn478Asp)
|
rs374979653
|
0.00003
|
NM_015662.3(IFT172):c.1893G>A (p.Leu631=)
|
rs774534899
|
0.00003
|
NM_015662.3(IFT172):c.2388A>G (p.Thr796=)
|
rs750450341
|
0.00003
|
NM_015662.3(IFT172):c.2681G>A (p.Arg894His)
|
rs561927411
|
0.00003
|
NM_015662.3(IFT172):c.2744A>G (p.Tyr915Cys)
|
rs749474609
|
0.00003
|
NM_015662.3(IFT172):c.3030C>A (p.His1010Gln)
|
rs201607202
|
0.00003
|
NM_015662.3(IFT172):c.357A>G (p.Gln119=)
|
rs749934202
|
0.00003
|
NM_015662.3(IFT172):c.4130C>T (p.Ala1377Val)
|
rs376824384
|
0.00003
|
NM_015662.3(IFT172):c.4161-16C>T
|
rs573518240
|
0.00003
|
NM_015662.3(IFT172):c.456G>A (p.Glu152=)
|
rs771141815
|
0.00003
|
NM_015662.3(IFT172):c.4598C>T (p.Thr1533Met)
|
rs202181028
|
0.00003
|
NM_015662.3(IFT172):c.707G>A (p.Arg236His)
|
rs768290728
|
0.00003
|
NM_015662.3(IFT172):c.953G>A (p.Arg318Gln)
|
rs779572697
|
0.00003
|
NM_015662.3(IFT172):c.986C>T (p.Thr329Met)
|
rs568736482
|
0.00003
|
NM_020779.4(WDR35):c.2128C>T (p.Arg710Cys)
|
rs781365658
|
0.00003
|
NM_020779.4(WDR35):c.2864G>A (p.Arg955His)
|
rs780666056
|
0.00003
|
NM_020779.4(WDR35):c.2984G>T (p.Gly995Val)
|
rs376284452
|
0.00003
|
NM_020779.4(WDR35):c.3170A>G (p.Tyr1057Cys)
|
rs541910371
|
0.00003
|
NM_020779.4(WDR35):c.628A>G (p.Ile210Val)
|
rs1413290520
|
0.00003
|
NM_020800.3(IFT80):c.370+6T>C
|
rs754136912
|
0.00003
|
NM_020800.3(IFT80):c.571A>G (p.Ile191Val)
|
rs376853807
|
0.00003
|
NM_024753.5(TTC21B):c.1535T>C (p.Phe512Ser)
|
rs371583620
|
0.00003
|
NM_024753.5(TTC21B):c.1798G>T (p.Ala600Ser)
|
rs369672356
|
0.00003
|
NM_024753.5(TTC21B):c.2165C>G (p.Pro722Arg)
|
rs760571843
|
0.00003
|
NM_024753.5(TTC21B):c.2168G>A (p.Arg723Gln)
|
rs151309609
|
0.00003
|
NM_024753.5(TTC21B):c.235T>C (p.Tyr79His)
|
rs752147287
|
0.00003
|
NM_024753.5(TTC21B):c.2758-2A>G
|
rs766132877
|
0.00003
|
NM_024753.5(TTC21B):c.2777G>A (p.Arg926Gln)
|
rs747246700
|
0.00003
|
NM_024753.5(TTC21B):c.2966T>C (p.Leu989Ser)
|
rs552766355
|
0.00003
|
NM_024753.5(TTC21B):c.3264-3C>G
|
rs189122492
|
0.00003
|
NM_024753.5(TTC21B):c.3640G>A (p.Asp1214Asn)
|
rs554851165
|
0.00003
|
NM_024753.5(TTC21B):c.3931C>T (p.Arg1311Cys)
|
rs200605660
|
0.00003
|
NM_024753.5(TTC21B):c.62A>G (p.His21Arg)
|
rs757283243
|
0.00003
|
NM_025132.4(WDR19):c.1016A>G (p.Gln339Arg)
|
rs773773910
|
0.00003
|
NM_025132.4(WDR19):c.1168C>A (p.Pro390Thr)
|
rs752803760
|
0.00003
|
NM_025132.4(WDR19):c.1430G>A (p.Arg477His)
|
rs371117988
|
0.00003
|
NM_025132.4(WDR19):c.2087G>A (p.Arg696His)
|
rs747881116
|
0.00003
|
NM_025132.4(WDR19):c.2320A>G (p.Ile774Val)
|
rs762043395
|
0.00003
|
NM_025132.4(WDR19):c.2632C>T (p.Arg878Cys)
|
rs770091572
|
0.00003
|
NM_025132.4(WDR19):c.2872G>A (p.Ala958Thr)
|
rs1057523257
|
0.00003
|
NM_025132.4(WDR19):c.2972A>G (p.Asn991Ser)
|
rs763190830
|
0.00003
|
NM_025132.4(WDR19):c.3434C>T (p.Ser1145Phe)
|
rs199625785
|
0.00003
|
NM_025132.4(WDR19):c.3716+13G>A
|
rs759523972
|
0.00003
|
NM_025132.4(WDR19):c.3749C>T (p.Thr1250Met)
|
rs529745222
|
0.00003
|
NM_025132.4(WDR19):c.778C>T (p.His260Tyr)
|
rs754678482
|
0.00003
|
NM_052989.3(IFT122):c.1207A>C (p.Ile403Leu)
|
rs149915993
|
0.00003
|
NM_052989.3(IFT122):c.1795G>A (p.Gly599Ser)
|
rs758194778
|
0.00003
|
NM_052989.3(IFT122):c.2840G>A (p.Arg947His)
|
rs760810819
|
0.00003
|
NM_052989.3(IFT122):c.3521G>A (p.Arg1174His)
|
rs143602964
|
0.00003
|
NM_052989.3(IFT122):c.3642C>G (p.Phe1214Leu)
|
rs751262275
|
0.00003
|
NM_147127.5(EVC2):c.2359C>T (p.Arg787Trp)
|
rs776830520
|
0.00003
|
NM_147127.5(EVC2):c.264C>A (p.Cys88Ter)
|
rs965707319
|
0.00003
|
NM_147127.5(EVC2):c.3659+2T>C
|
rs200300612
|
0.00003
|
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter)
|
rs121908425
|
0.00003
|
NM_153717.3(EVC):c.1668C>G (p.Tyr556Ter)
|
rs765269619
|
0.00003
|
NM_153717.3(EVC):c.175-2A>G
|
rs767186464
|
0.00003
|
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter)
|
rs767400887
|
0.00003
|
NM_001102564.3(IFT43):c.296-5681A>G
|
rs755977535
|
0.00002
|
NM_001102564.3(IFT43):c.398G>A (p.Arg133His)
|
rs755396441
|
0.00002
|
NM_001102564.3(IFT43):c.502C>T (p.Arg168Trp)
|
rs1483926431
|
0.00002
|
NM_001199397.3(NEK1):c.2361G>A (p.Lys787=)
|
rs886042457
|
0.00002
|
NM_001377.3(DYNC2H1):c.10024C>T (p.Arg3342Ter)
|
rs751891969
|
0.00002
|
NM_001377.3(DYNC2H1):c.10042+2T>G
|
rs1261505725
|
0.00002
|
NM_001377.3(DYNC2H1):c.12156+1G>A
|
rs794727944
|
0.00002
|
NM_001377.3(DYNC2H1):c.536G>A (p.Trp179Ter)
|
rs1223863177
|
0.00002
|
NM_001377.3(DYNC2H1):c.8512C>T (p.Arg2838Ter)
|
rs137853032
|
0.00002
|
NM_001382391.1(CSPP1):c.3645T>G (p.Thr1215=)
|
rs749332092
|
0.00002
|
NM_014714.4(IFT140):c.1147C>T (p.Gln383Ter)
|
rs1206753537
|
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.2200-20A>G
|
rs760501465
|
0.00002
|
NM_014714.4(IFT140):c.2372C>G (p.Ala791Gly)
|
rs758544371
|
0.00002
|
NM_014714.4(IFT140):c.2423C>T (p.Ala808Val)
|
rs748463111
|
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.312C>T (p.Ala104=)
|
rs138263672
|
0.00002
|
NM_014714.4(IFT140):c.3148G>A (p.Gly1050Ser)
|
rs763140298
|
0.00002
|
NM_014714.4(IFT140):c.3526G>A (p.Val1176Met)
|
rs764946729
|
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.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.773C>T (p.Thr258Met)
|
rs140020318
|
0.00002
|
NM_015631.6(TCTN3):c.3G>A (p.Met1Ile)
|
rs745688122
|
0.00002
|
NM_015662.3(IFT172):c.1005+10A>T
|
rs771534291
|
0.00002
|
NM_015662.3(IFT172):c.1238A>G (p.Asn413Ser)
|
rs962054597
|
0.00002
|
NM_015662.3(IFT172):c.135A>T (p.Glu45Asp)
|
rs1350745027
|
0.00002
|
NM_015662.3(IFT172):c.1367A>T (p.Asn456Ile)
|
rs528303561
|
0.00002
|
NM_015662.3(IFT172):c.1414G>A (p.Asp472Asn)
|
rs747544155
|
0.00002
|
NM_015662.3(IFT172):c.1693-19G>T
|
rs202039261
|
0.00002
|
NM_015662.3(IFT172):c.1973G>A (p.Arg658Gln)
|
rs376890875
|
0.00002
|
NM_015662.3(IFT172):c.1997T>C (p.Ile666Thr)
|
rs777173046
|
0.00002
|
NM_015662.3(IFT172):c.2176G>A (p.Ala726Thr)
|
rs188779949
|
0.00002
|
NM_015662.3(IFT172):c.2204C>A (p.Ala735Asp)
|
rs773174861
|
0.00002
|
NM_015662.3(IFT172):c.2437G>A (p.Glu813Lys)
|
rs1036729851
|
0.00002
|
NM_015662.3(IFT172):c.2722C>T (p.Arg908Trp)
|
rs745644146
|
0.00002
|
NM_015662.3(IFT172):c.3146A>C (p.Glu1049Ala)
|
rs138139922
|
0.00002
|
NM_015662.3(IFT172):c.3197G>A (p.Arg1066Gln)
|
rs759282959
|
0.00002
|
NM_015662.3(IFT172):c.3739C>T (p.Arg1247Cys)
|
rs375755957
|
0.00002
|
NM_015662.3(IFT172):c.3989G>A (p.Arg1330His)
|
rs202236985
|
0.00002
|
NM_015662.3(IFT172):c.402+2T>G
|
rs774548930
|
0.00002
|
NM_015662.3(IFT172):c.403-16A>G
|
rs367657817
|
0.00002
|
NM_015662.3(IFT172):c.406C>T (p.Arg136Cys)
|
rs753783467
|
0.00002
|
NM_015662.3(IFT172):c.412G>A (p.Ala138Thr)
|
rs1461000488
|
0.00002
|
NM_015662.3(IFT172):c.4228G>T (p.Val1410Leu)
|
rs777573615
|
0.00002
|
NM_015662.3(IFT172):c.4364G>A (p.Arg1455Gln)
|
rs747215055
|
0.00002
|
NM_015662.3(IFT172):c.4627A>G (p.Thr1543Ala)
|
rs769170592
|
0.00002
|
NM_015662.3(IFT172):c.4656G>A (p.Gln1552=)
|
rs530107456
|
0.00002
|
NM_015662.3(IFT172):c.5033G>A (p.Ser1678Asn)
|
rs972056548
|
0.00002
|
NM_015662.3(IFT172):c.5068G>C (p.Gly1690Arg)
|
rs200049734
|
0.00002
|
NM_015662.3(IFT172):c.529G>A (p.Val177Ile)
|
rs754880269
|
0.00002
|
NM_015662.3(IFT172):c.721C>T (p.Arg241Trp)
|
rs772012378
|
0.00002
|
NM_020779.4(WDR35):c.136C>T (p.Gln46Ter)
|
rs767788330
|
0.00002
|
NM_020779.4(WDR35):c.1435A>G (p.Met479Val)
|
rs797046099
|
0.00002
|
NM_020779.4(WDR35):c.1798A>G (p.Met600Val)
|
rs751974091
|
0.00002
|
NM_020779.4(WDR35):c.670T>C (p.Cys224Arg)
|
rs757871845
|
0.00002
|
NM_020779.4(WDR35):c.764A>G (p.Tyr255Cys)
|
rs1228498799
|
0.00002
|
NM_020800.3(IFT80):c.377A>C (p.Glu126Ala)
|
rs574860967
|
0.00002
|
NM_020800.3(IFT80):c.954G>A (p.Met318Ile)
|
rs957922344
|
0.00002
|
NM_024753.5(TTC21B):c.121T>C (p.Phe41Leu)
|
rs776138424
|
0.00002
|
NM_024753.5(TTC21B):c.1357A>G (p.Met453Val)
|
rs754773733
|
0.00002
|
NM_024753.5(TTC21B):c.1386+1G>T
|
rs764514397
|
0.00002
|
NM_024753.5(TTC21B):c.151+4C>T
|
rs370743264
|
0.00002
|
NM_024753.5(TTC21B):c.1760A>G (p.His587Arg)
|
rs372066887
|
0.00002
|
NM_024753.5(TTC21B):c.176A>C (p.Glu59Ala)
|
rs769276420
|
0.00002
|
NM_024753.5(TTC21B):c.2482dup (p.Met828fs)
|
rs906032090
|
0.00002
|
NM_024753.5(TTC21B):c.2682T>G (p.Ser894=)
|
rs776376597
|
0.00002
|
NM_024753.5(TTC21B):c.2741del (p.Cys914fs)
|
rs754911118
|
0.00002
|
NM_024753.5(TTC21B):c.2858C>T (p.Ala953Val)
|
rs775868164
|
0.00002
|
NM_024753.5(TTC21B):c.2868+9A>G
|
rs1465172057
|
0.00002
|
NM_024753.5(TTC21B):c.2972G>A (p.Arg991His)
|
rs141708554
|
0.00002
|
NM_024753.5(TTC21B):c.307C>T (p.Arg103Cys)
|
rs760729865
|
0.00002
|
NM_024753.5(TTC21B):c.318T>C (p.Ala106=)
|
rs747777604
|
0.00002
|
NM_024753.5(TTC21B):c.3476C>T (p.Ala1159Val)
|
rs367564721
|
0.00002
|
NM_024753.5(TTC21B):c.3572T>C (p.Ile1191Thr)
|
rs776721597
|
0.00002
|
NM_024753.5(TTC21B):c.3617T>C (p.Ile1206Thr)
|
rs374240595
|
0.00002
|
NM_024753.5(TTC21B):c.3623T>G (p.Ile1208Ser)
|
rs189519760
|
0.00002
|
NM_024753.5(TTC21B):c.866A>G (p.Tyr289Cys)
|
rs1372232699
|
0.00002
|
NM_025132.4(WDR19):c.1357-8C>T
|
rs754713889
|
0.00002
|
NM_025132.4(WDR19):c.1486G>A (p.Val496Ile)
|
rs1482640692
|
0.00002
|
NM_025132.4(WDR19):c.1752T>C (p.Tyr584=)
|
rs139391186
|
0.00002
|
NM_025132.4(WDR19):c.1904A>G (p.His635Arg)
|
rs763696990
|
0.00002
|
NM_025132.4(WDR19):c.200A>G (p.Asp67Gly)
|
rs778896318
|
0.00002
|
NM_025132.4(WDR19):c.2785C>T (p.Arg929Cys)
|
rs1470166429
|
0.00002
|
NM_025132.4(WDR19):c.2954C>A (p.Thr985Lys)
|
rs769807270
|
0.00002
|
NM_025132.4(WDR19):c.326G>A (p.Gly109Glu)
|
rs766029437
|
0.00002
|
NM_025132.4(WDR19):c.343G>A (p.Gly115Arg)
|
rs376471437
|
0.00002
|
NM_025132.4(WDR19):c.3624C>T (p.Asn1208=)
|
rs747334676
|
0.00002
|
NM_025132.4(WDR19):c.4014G>A (p.Thr1338=)
|
rs763555032
|
0.00002
|
NM_025132.4(WDR19):c.512C>T (p.Thr171Met)
|
rs777646123
|
0.00002
|
NM_052844.4(DYNC2I2):c.1174G>A (p.Gly392Ser)
|
rs140484655
|
0.00002
|
NM_052989.3(IFT122):c.1148-1G>C
|
rs755005244
|
0.00002
|
NM_052989.3(IFT122):c.1577G>A (p.Arg526His)
|
rs754275024
|
0.00002
|
NM_052989.3(IFT122):c.1629C>T (p.Ile543=)
|
rs372545849
|
0.00002
|
NM_052989.3(IFT122):c.2393G>A (p.Arg798His)
|
rs755677495
|
0.00002
|
NM_052989.3(IFT122):c.2629C>T (p.Arg877Cys)
|
rs773080594
|
0.00002
|
NM_052989.3(IFT122):c.2652G>A (p.Ala884=)
|
rs201147770
|
0.00002
|
NM_052989.3(IFT122):c.3053C>G (p.Ala1018Gly)
|
rs767833675
|
0.00002
|
NM_052989.3(IFT122):c.3068G>A (p.Arg1023His)
|
rs753932809
|
0.00002
|
NM_052989.3(IFT122):c.3233G>T (p.Arg1078Leu)
|
rs1269892119
|
0.00002
|
NM_052989.3(IFT122):c.3504G>C (p.Val1168=)
|
rs368239028
|
0.00002
|
NM_052989.3(IFT122):c.42-17C>G
|
rs752213678
|
0.00002
|
NM_052989.3(IFT122):c.511C>T (p.Arg171Trp)
|
rs1064794186
|
0.00002
|
NM_147127.5(EVC2):c.1371A>C (p.Glu457Asp)
|
rs368371226
|
0.00002
|
NM_147127.5(EVC2):c.1896C>A (p.Tyr632Ter)
|
rs779707723
|
0.00002
|
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter)
|
rs760382778
|
0.00002
|
NM_147127.5(EVC2):c.3660del (p.Ser1220fs)
|
rs753581033
|
0.00002
|
NM_153717.3(EVC):c.2635C>T (p.Gln879Ter)
|
rs121908424
|
0.00002
|
NM_153717.3(EVC):c.2782+1G>T
|
rs1007534611
|
0.00002
|
NM_001006657.2(WDR35):c.1217T>C (p.Phe406Ser)
|
rs971237623
|
0.00001
|
NM_001102564.3(IFT43):c.176G>A (p.Arg59Gln)
|
rs756786140
|
0.00001
|
NM_001102564.3(IFT43):c.195T>A (p.Gly65=)
|
rs766606545
|
0.00001
|
NM_001102564.3(IFT43):c.214_215+2del
|
rs777112610
|
0.00001
|
NM_001102564.3(IFT43):c.29A>G (p.Glu10Gly)
|
rs1023671414
|
0.00001
|
NM_001102564.3(IFT43):c.311C>T (p.Pro104Leu)
|
rs144547737
|
0.00001
|
NM_001102564.3(IFT43):c.31C>T (p.Leu11Phe)
|
rs756188997
|
0.00001
|
NM_001102564.3(IFT43):c.34C>T (p.Arg12Cys)
|
rs749145719
|
0.00001
|
NM_001102564.3(IFT43):c.361C>T (p.Pro121Ser)
|
rs1359937590
|
0.00001
|
NM_001102564.3(IFT43):c.368+17A>T
|
rs759453395
|
0.00001
|
NM_001102564.3(IFT43):c.469C>A (p.Leu157Ile)
|
rs1414874776
|
0.00001
|
NM_001102564.3(IFT43):c.485C>T (p.Ala162Val)
|
rs371422510
|
0.00001
|
NM_001102564.3(IFT43):c.498A>T (p.Glu166Asp)
|
rs141866033
|
0.00001
|
NM_001102564.3(IFT43):c.540C>A (p.Phe180Leu)
|
rs894168247
|
0.00001
|
NM_001102564.3(IFT43):c.605C>T (p.Ala202Val)
|
rs764790125
|
0.00001
|
NM_001199397.3(NEK1):c.2588-2A>G
|
rs201769828
|
0.00001
|
NM_001199397.3(NEK1):c.418G>A (p.Gly140Arg)
|
rs1301705612
|
0.00001
|
NM_001329943.3(KIAA0586):c.2654A>G (p.Glu885Gly)
|
rs770688785
|
0.00001
|
NM_001375405.1(CEP120):c.2606G>A (p.Arg869His)
|
rs771132137
|
0.00001
|
NM_001377.3(DYNC2H1):c.10585C>T (p.Arg3529Ter)
|
rs562139820
|
0.00001
|
NM_001377.3(DYNC2H1):c.10729C>T (p.Arg3577Ter)
|
rs373536938
|
0.00001
|
NM_001377.3(DYNC2H1):c.3059T>G (p.Leu1020Ter)
|
rs373335226
|
0.00001
|
NM_001377.3(DYNC2H1):c.4625C>T (p.Ala1542Val)
|
rs1043384862
|
0.00001
|
NM_001377.3(DYNC2H1):c.5176C>T (p.Arg1726Ter)
|
rs772321133
|
0.00001
|
NM_001377.3(DYNC2H1):c.5876T>A (p.Ile1959Asn)
|
rs756556129
|
0.00001
|
NM_001377.3(DYNC2H1):c.739C>T (p.Arg247Ter)
|
rs561778796
|
0.00001
|
NM_001377.3(DYNC2H1):c.7441C>T (p.Arg2481Ter)
|
rs537704873
|
0.00001
|
NM_001377.3(DYNC2H1):c.7577T>G (p.Ile2526Ser)
|
rs762588952
|
0.00001
|
NM_001377.3(DYNC2H1):c.8050G>T (p.Gly2684Ter)
|
rs747857715
|
0.00001
|
NM_001377.3(DYNC2H1):c.9842T>C (p.Ile3281Thr)
|
rs1204094235
|
0.00001
|
NM_001377.3(DYNC2H1):c.988C>T (p.Arg330Cys)
|
rs397514637
|
0.00001
|
NM_001382391.1(CSPP1):c.1555C>T (p.Pro519Ser)
|
rs1818326433
|
0.00001
|
NM_001382391.1(CSPP1):c.1697+1G>T
|
rs863225193
|
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.1301C>T (p.Thr434Met)
|
rs762293142
|
0.00001
|
NM_014714.4(IFT140):c.1322G>A (p.Arg441His)
|
rs776567773
|
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.1418C>T (p.Ala473Val)
|
rs765322119
|
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.1440C>G (p.Phe480Leu)
|
rs770727161
|
0.00001
|
NM_014714.4(IFT140):c.1451C>T (p.Thr484Met)
|
rs758052634
|
0.00001
|
NM_014714.4(IFT140):c.1480G>A (p.Val494Ile)
|
rs767571875
|
0.00001
|
NM_014714.4(IFT140):c.1559C>T (p.Thr520Ile)
|
rs1321089981
|
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.1869G>C (p.Glu623Asp)
|
rs2033705618
|
0.00001
|
NM_014714.4(IFT140):c.1901+5G>A
|
rs999790368
|
0.00001
|
NM_014714.4(IFT140):c.1959G>A (p.Trp653Ter)
|
rs770731272
|
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.2242C>T (p.His748Tyr)
|
rs760427350
|
0.00001
|
NM_014714.4(IFT140):c.2279G>A (p.Arg760Gln)
|
rs780086795
|
0.00001
|
NM_014714.4(IFT140):c.2318G>A (p.Arg773Gln)
|
rs140458893
|
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.2509C>T (p.Arg837Cys)
|
rs754073086
|
0.00001
|
NM_014714.4(IFT140):c.2545G>A (p.Val849Met)
|
rs771662799
|
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.2598C>G (p.Tyr866Ter)
|
rs144513458
|
0.00001
|
NM_014714.4(IFT140):c.2661G>A (p.Glu887=)
|
rs1287846996
|
0.00001
|
NM_014714.4(IFT140):c.2683C>T (p.His895Tyr)
|
rs934460322
|
0.00001
|
NM_014714.4(IFT140):c.2690G>A (p.Arg897His)
|
rs745863942
|
0.00001
|
NM_014714.4(IFT140):c.2718C>G (p.Arg906=)
|
rs780540683
|
0.00001
|
NM_014714.4(IFT140):c.2758G>T (p.Ala920Ser)
|
rs566450108
|
0.00001
|
NM_014714.4(IFT140):c.2908G>A (p.Glu970Lys)
|
rs143720412
|
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.2945G>A (p.Arg982Gln)
|
rs766316995
|
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.3131G>A (p.Arg1044His)
|
rs577498082
|
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.3234C>T (p.Gly1078=)
|
rs200748918
|
0.00001
|
NM_014714.4(IFT140):c.3301G>A (p.Ala1101Thr)
|
rs760652531
|
0.00001
|
NM_014714.4(IFT140):c.3470A>T (p.Gln1157Leu)
|
rs772423904
|
0.00001
|
NM_014714.4(IFT140):c.3563G>A (p.Arg1188Gln)
|
rs780533679
|
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.3672G>A (p.Ala1224=)
|
rs765766910
|
0.00001
|
NM_014714.4(IFT140):c.3704C>T (p.Thr1235Met)
|
rs767997025
|
0.00001
|
NM_014714.4(IFT140):c.3789G>A (p.Pro1263=)
|
rs769211167
|
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.3874-1G>A
|
rs749563050
|
0.00001
|
NM_014714.4(IFT140):c.3876G>A (p.Val1292=)
|
rs986239975
|
0.00001
|
NM_014714.4(IFT140):c.3913G>A (p.Gly1305Arg)
|
rs755596826
|
0.00001
|
NM_014714.4(IFT140):c.3958A>G (p.Lys1320Glu)
|
rs776809726
|
0.00001
|
NM_014714.4(IFT140):c.3989C>T (p.Ala1330Val)
|
rs376151586
|
0.00001
|
NM_014714.4(IFT140):c.4056C>T (p.Asp1352=)
|
rs140265753
|
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.4196T>C (p.Leu1399Pro)
|
rs559371453
|
0.00001
|
NM_014714.4(IFT140):c.4267G>A (p.Val1423Met)
|
rs756711276
|
0.00001
|
NM_014714.4(IFT140):c.4378G>A (p.Asp1460Asn)
|
rs777181948
|
0.00001
|
NM_014714.4(IFT140):c.472C>T (p.Arg158Trp)
|
rs755315693
|
0.00001
|
NM_014714.4(IFT140):c.489C>T (p.Gly163=)
|
rs776597097
|
0.00001
|
NM_014714.4(IFT140):c.685G>A (p.Ala229Thr)
|
rs555382397
|
0.00001
|
NM_014714.4(IFT140):c.7C>T (p.Leu3Phe)
|
rs1442341163
|
0.00001
|
NM_014714.4(IFT140):c.850G>A (p.Ala284Thr)
|
rs778404277
|
0.00001
|
NM_014714.4(IFT140):c.883G>A (p.Val295Ile)
|
rs762792738
|
0.00001
|
NM_015631.6(TCTN3):c.1196G>A (p.Ser399Asn)
|
rs768285987
|
0.00001
|
NM_015631.6(TCTN3):c.1271T>G (p.Val424Gly)
|
rs200705429
|
0.00001
|
NM_015631.6(TCTN3):c.877C>T (p.Gln293Ter)
|
rs764091969
|
0.00001
|
NM_015662.3(IFT172):c.1058A>G (p.Tyr353Cys)
|
rs749207320
|
0.00001
|
NM_015662.3(IFT172):c.1099C>T (p.Arg367Cys)
|
rs755816980
|
0.00001
|
NM_015662.3(IFT172):c.1160T>G (p.Leu387Arg)
|
rs745554539
|
0.00001
|
NM_015662.3(IFT172):c.1295G>A (p.Arg432His)
|
rs1327376049
|
0.00001
|
NM_015662.3(IFT172):c.1314C>G (p.Pro438=)
|
rs1435972299
|
0.00001
|
NM_015662.3(IFT172):c.1417C>G (p.Leu473Val)
|
rs772607856
|
0.00001
|
NM_015662.3(IFT172):c.1444G>A (p.Val482Ile)
|
rs771104054
|
0.00001
|
NM_015662.3(IFT172):c.1522C>T (p.Arg508Cys)
|
rs371011000
|
0.00001
|
NM_015662.3(IFT172):c.1525-1G>A
|
rs370540673
|
0.00001
|
NM_015662.3(IFT172):c.1609G>A (p.Val537Met)
|
rs868020223
|
0.00001
|
NM_015662.3(IFT172):c.167A>C (p.Lys56Thr)
|
rs780205001
|
0.00001
|
NM_015662.3(IFT172):c.1715G>A (p.Arg572Gln)
|
rs764302265
|
0.00001
|
NM_015662.3(IFT172):c.178A>G (p.Met60Val)
|
rs758377122
|
0.00001
|
NM_015662.3(IFT172):c.1880T>C (p.Met627Thr)
|
rs147288623
|
0.00001
|
NM_015662.3(IFT172):c.1929T>C (p.Ile643=)
|
rs375541145
|
0.00001
|
NM_015662.3(IFT172):c.2025C>T (p.Gly675=)
|
rs762659921
|
0.00001
|
NM_015662.3(IFT172):c.2155C>T (p.His719Tyr)
|
rs144645349
|
0.00001
|
NM_015662.3(IFT172):c.2218C>T (p.Arg740Cys)
|
rs187728607
|
0.00001
|
NM_015662.3(IFT172):c.2221C>T (p.Arg741Cys)
|
rs984586780
|
0.00001
|
NM_015662.3(IFT172):c.2308A>G (p.Ile770Val)
|
rs145926013
|
0.00001
|
NM_015662.3(IFT172):c.2365C>T (p.Arg789Ter)
|
rs202024173
|
0.00001
|
NM_015662.3(IFT172):c.239A>C (p.Lys80Thr)
|
rs766853711
|
0.00001
|
NM_015662.3(IFT172):c.2413G>T (p.Ala805Ser)
|
rs1387032631
|
0.00001
|
NM_015662.3(IFT172):c.2442+13C>T
|
rs749766704
|
0.00001
|
NM_015662.3(IFT172):c.2452C>T (p.Leu818Phe)
|
rs374015331
|
0.00001
|
NM_015662.3(IFT172):c.2498G>A (p.Arg833His)
|
rs756767071
|
0.00001
|
NM_015662.3(IFT172):c.2536C>T (p.Arg846Ter)
|
rs761095604
|
0.00001
|
NM_015662.3(IFT172):c.2548C>G (p.Pro850Ala)
|
rs1401639649
|
0.00001
|
NM_015662.3(IFT172):c.2695G>A (p.Ala899Thr)
|
rs776148073
|
0.00001
|
NM_015662.3(IFT172):c.270C>A (p.Ile90=)
|
rs759058747
|
0.00001
|
NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter)
|
rs750338419
|
0.00001
|
NM_015662.3(IFT172):c.2796G>A (p.Glu932=)
|
rs566830176
|
0.00001
|
NM_015662.3(IFT172):c.2875A>G (p.Lys959Glu)
|
rs1271431771
|
0.00001
|
NM_015662.3(IFT172):c.2897G>C (p.Arg966Thr)
|
rs1009534874
|
0.00001
|
NM_015662.3(IFT172):c.2981A>G (p.Tyr994Cys)
|
rs994624984
|
0.00001
|
NM_015662.3(IFT172):c.2998C>G (p.Pro1000Ala)
|
rs569281478
|
0.00001
|
NM_015662.3(IFT172):c.3052C>T (p.Arg1018Cys)
|
rs1358114348
|
0.00001
|
NM_015662.3(IFT172):c.3178G>A (p.Ala1060Thr)
|
rs560379580
|
0.00001
|
NM_015662.3(IFT172):c.3196C>T (p.Arg1066Trp)
|
rs148997142
|
0.00001
|
NM_015662.3(IFT172):c.3226A>G (p.Arg1076Gly)
|
rs770486522
|
0.00001
|
NM_015662.3(IFT172):c.3244G>A (p.Gly1082Arg)
|
rs1008321384
|
0.00001
|
NM_015662.3(IFT172):c.3368A>G (p.Asn1123Ser)
|
rs146615936
|
0.00001
|
NM_015662.3(IFT172):c.337-11C>T
|
rs745921292
|
0.00001
|
NM_015662.3(IFT172):c.338G>A (p.Ser113Asn)
|
rs778306652
|
0.00001
|
NM_015662.3(IFT172):c.3530+11C>G
|
rs777469179
|
0.00001
|
NM_015662.3(IFT172):c.354G>A (p.Leu118=)
|
rs757988462
|
0.00001
|
NM_015662.3(IFT172):c.3622C>T (p.Arg1208Trp)
|
rs779395435
|
0.00001
|
NM_015662.3(IFT172):c.3752A>T (p.Asp1251Val)
|
rs1665910456
|
0.00001
|
NM_015662.3(IFT172):c.3767A>G (p.Gln1256Arg)
|
rs765703265
|
0.00001
|
NM_015662.3(IFT172):c.3793G>T (p.Glu1265Ter)
|
rs999731005
|
0.00001
|
NM_015662.3(IFT172):c.3924C>T (p.Ser1308=)
|
rs764778967
|
0.00001
|
NM_015662.3(IFT172):c.4014A>G (p.Val1338=)
|
rs527544045
|
0.00001
|
NM_015662.3(IFT172):c.4034T>C (p.Ile1345Thr)
|
rs766061673
|
0.00001
|
NM_015662.3(IFT172):c.403G>A (p.Val135Ile)
|
rs201476743
|
0.00001
|
NM_015662.3(IFT172):c.4095C>T (p.Ile1365=)
|
rs747729113
|
0.00001
|
NM_015662.3(IFT172):c.4134G>A (p.Lys1378=)
|
rs1039315733
|
0.00001
|
NM_015662.3(IFT172):c.421A>G (p.Lys141Glu)
|
rs760582917
|
0.00001
|
NM_015662.3(IFT172):c.4351A>G (p.Thr1451Ala)
|
rs761701917
|
0.00001
|
NM_015662.3(IFT172):c.4417G>A (p.Ala1473Thr)
|
rs749834823
|
0.00001
|
NM_015662.3(IFT172):c.4519C>T (p.Arg1507Ter)
|
rs150246251
|
0.00001
|
NM_015662.3(IFT172):c.4539+11G>A
|
rs756814532
|
0.00001
|
NM_015662.3(IFT172):c.4539+6G>A
|
rs745480523
|
0.00001
|
NM_015662.3(IFT172):c.4588G>A (p.Glu1530Lys)
|
rs764604255
|
0.00001
|
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys)
|
rs587777079
|
0.00001
|
NM_015662.3(IFT172):c.4677G>C (p.Arg1559Ser)
|
rs777980611
|
0.00001
|
NM_015662.3(IFT172):c.4868C>T (p.Thr1623Ile)
|
rs762958757
|
0.00001
|
NM_015662.3(IFT172):c.4908T>G (p.His1636Gln)
|
rs201840472
|
0.00001
|
NM_015662.3(IFT172):c.4937G>A (p.Arg1646Gln)
|
rs549415233
|
0.00001
|
NM_015662.3(IFT172):c.4991G>A (p.Arg1664Gln)
|
rs749884570
|
0.00001
|
NM_015662.3(IFT172):c.4999C>T (p.Arg1667Cys)
|
rs757212554
|
0.00001
|
NM_015662.3(IFT172):c.5053C>T (p.Pro1685Ser)
|
rs775285304
|
0.00001
|
NM_015662.3(IFT172):c.5059C>T (p.Leu1687Phe)
|
rs917873749
|
0.00001
|
NM_015662.3(IFT172):c.5124C>A (p.Asn1708Lys)
|
rs868748622
|
0.00001
|
NM_015662.3(IFT172):c.5149A>C (p.Met1717Leu)
|
rs146309780
|
0.00001
|
NM_015662.3(IFT172):c.5182C>A (p.Gln1728Lys)
|
rs753075654
|
0.00001
|
NM_020779.4(WDR35):c.1088C>T (p.Thr363Met)
|
rs200341288
|
0.00001
|
NM_020779.4(WDR35):c.10T>C (p.Tyr4His)
|
rs772365561
|
0.00001
|
NM_020779.4(WDR35):c.1310C>T (p.Ala437Val)
|
rs1671332812
|
0.00001
|
NM_020779.4(WDR35):c.1468del (p.Gln490fs)
|
rs886044119
|
0.00001
|
NM_020779.4(WDR35):c.1662A>T (p.Gly554=)
|
rs767878828
|
0.00001
|
NM_020779.4(WDR35):c.1930C>G (p.Pro644Ala)
|
rs758919526
|
0.00001
|
NM_020779.4(WDR35):c.2555C>T (p.Ala852Val)
|
rs772896944
|
0.00001
|
NM_020779.4(WDR35):c.2627C>G (p.Ala876Gly)
|
rs199849430
|
0.00001
|
NM_020779.4(WDR35):c.2780G>A (p.Arg927Gln)
|
rs754997630
|
0.00001
|
NM_020779.4(WDR35):c.2900T>C (p.Ile967Thr)
|
rs776936691
|
0.00001
|
NM_020779.4(WDR35):c.308G>T (p.Gly103Val)
|
rs886055406
|
0.00001
|
NM_020779.4(WDR35):c.3122-3T>C
|
rs751769266
|
0.00001
|
NM_020779.4(WDR35):c.3190G>A (p.Ala1064Thr)
|
rs759338583
|
0.00001
|
NM_020779.4(WDR35):c.626G>A (p.Gly209Glu)
|
rs1410550467
|
0.00001
|
NM_020800.3(IFT80):c.1219C>T (p.Pro407Ser)
|
rs1345262813
|
0.00001
|
NM_020800.3(IFT80):c.1627G>A (p.Asp543Asn)
|
rs535870220
|
0.00001
|
NM_020800.3(IFT80):c.1715C>T (p.Thr572Ile)
|
rs751538474
|
0.00001
|
NM_020800.3(IFT80):c.1836+5T>C
|
rs373116334
|
0.00001
|
NM_020800.3(IFT80):c.1954A>G (p.Ile652Val)
|
rs779103873
|
0.00001
|
NM_020800.3(IFT80):c.2048G>T (p.Gly683Val)
|
rs1302753011
|
0.00001
|
NM_020800.3(IFT80):c.2179G>A (p.Gly727Ser)
|
rs977361551
|
0.00001
|
NM_020800.3(IFT80):c.2200C>T (p.Arg734Ter)
|
rs375941259
|
0.00001
|
NM_020800.3(IFT80):c.639+5A>G
|
rs527856744
|
0.00001
|
NM_020800.3(IFT80):c.658C>T (p.Arg220Cys)
|
rs373133351
|
0.00001
|
NM_024753.5(TTC21B):c.1087+1G>A
|
rs776301212
|
0.00001
|
NM_024753.5(TTC21B):c.1088-1G>C
|
rs753627675
|
0.00001
|
NM_024753.5(TTC21B):c.1301C>G (p.Pro434Arg)
|
rs971283288
|
0.00001
|
NM_024753.5(TTC21B):c.1377T>A (p.Cys459Ter)
|
rs1183062277
|
0.00001
|
NM_024753.5(TTC21B):c.1386+15G>A
|
rs201281283
|
0.00001
|
NM_024753.5(TTC21B):c.1431C>G (p.Cys477Trp)
|
rs751822992
|
0.00001
|
NM_024753.5(TTC21B):c.1478A>G (p.Gln493Arg)
|
rs748993825
|
0.00001
|
NM_024753.5(TTC21B):c.1543C>T (p.Leu515Phe)
|
rs1246746208
|
0.00001
|
NM_024753.5(TTC21B):c.1546C>T (p.Gln516Ter)
|
rs779134983
|
0.00001
|
NM_024753.5(TTC21B):c.1609T>G (p.Leu537Val)
|
rs200916824
|
0.00001
|
NM_024753.5(TTC21B):c.1685A>G (p.Tyr562Cys)
|
rs1686220039
|
0.00001
|
NM_024753.5(TTC21B):c.1732G>C (p.Glu578Gln)
|
rs377128320
|
0.00001
|
NM_024753.5(TTC21B):c.1876G>A (p.Val626Ile)
|
rs144411419
|
0.00001
|
NM_024753.5(TTC21B):c.2324C>T (p.Ala775Val)
|
rs753608608
|
0.00001
|
NM_024753.5(TTC21B):c.2441A>G (p.His814Arg)
|
rs965238984
|
0.00001
|
NM_024753.5(TTC21B):c.2483T>C (p.Met828Thr)
|
rs767841175
|
0.00001
|
NM_024753.5(TTC21B):c.256A>C (p.Asn86His)
|
rs773555238
|
0.00001
|
NM_024753.5(TTC21B):c.2572C>G (p.Arg858Gly)
|
rs895624584
|
0.00001
|
NM_024753.5(TTC21B):c.2698T>A (p.Tyr900Asn)
|
rs1336338964
|
0.00001
|
NM_024753.5(TTC21B):c.2810G>T (p.Cys937Phe)
|
rs184561530
|
0.00001
|
NM_024753.5(TTC21B):c.2866A>G (p.Met956Val)
|
rs746138925
|
0.00001
|
NM_024753.5(TTC21B):c.2941C>T (p.Arg981Cys)
|
rs749278599
|
0.00001
|
NM_024753.5(TTC21B):c.3032T>C (p.Met1011Thr)
|
rs777427926
|
0.00001
|
NM_024753.5(TTC21B):c.3102-2A>G
|
rs779472675
|
0.00001
|
NM_024753.5(TTC21B):c.3190A>T (p.Ile1064Leu)
|
rs1004469692
|
0.00001
|
NM_024753.5(TTC21B):c.3350A>C (p.Gln1117Pro)
|
rs148631747
|
0.00001
|
NM_024753.5(TTC21B):c.3358G>A (p.Val1120Ile)
|
rs746123823
|
0.00001
|
NM_024753.5(TTC21B):c.338A>G (p.His113Arg)
|
rs146865517
|
0.00001
|
NM_024753.5(TTC21B):c.3524G>A (p.Arg1175Gln)
|
rs987977269
|
0.00001
|
NM_024753.5(TTC21B):c.3545G>A (p.Arg1182His)
|
rs199658616
|
0.00001
|
NM_024753.5(TTC21B):c.3551C>T (p.Ala1184Val)
|
rs754751728
|
0.00001
|
NM_024753.5(TTC21B):c.3668G>T (p.Cys1223Phe)
|
rs1225739712
|
0.00001
|
NM_024753.5(TTC21B):c.368G>A (p.Arg123His)
|
rs370484375
|
0.00001
|
NM_024753.5(TTC21B):c.3791C>T (p.Thr1264Ile)
|
rs569067100
|
0.00001
|
NM_024753.5(TTC21B):c.3915T>A (p.Asp1305Glu)
|
rs756943619
|
0.00001
|
NM_024753.5(TTC21B):c.419G>A (p.Gly140Asp)
|
rs779381150
|
0.00001
|
NM_024753.5(TTC21B):c.518A>C (p.Gln173Pro)
|
rs775266613
|
0.00001
|
NM_024753.5(TTC21B):c.553-2A>G
|
rs773580610
|
0.00001
|
NM_024753.5(TTC21B):c.572G>A (p.Arg191His)
|
rs781486283
|
0.00001
|
NM_024753.5(TTC21B):c.894+13A>G
|
rs780758585
|
0.00001
|
NM_024753.5(TTC21B):c.8C>T (p.Ser3Leu)
|
rs1364155246
|
0.00001
|
NM_024753.5(TTC21B):c.914T>C (p.Ile305Thr)
|
rs1217195888
|
0.00001
|
NM_025132.4(WDR19):c.1093A>G (p.Thr365Ala)
|
rs745627337
|
0.00001
|
NM_025132.4(WDR19):c.1248T>C (p.Asn416=)
|
rs772867899
|
0.00001
|
NM_025132.4(WDR19):c.1350A>G (p.Leu450=)
|
rs770470368
|
0.00001
|
NM_025132.4(WDR19):c.14T>C (p.Phe5Ser)
|
rs1237494778
|
0.00001
|
NM_025132.4(WDR19):c.1535G>A (p.Arg512Gln)
|
rs537283735
|
0.00001
|
NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter)
|
rs771148519
|
0.00001
|
NM_025132.4(WDR19):c.164+12A>G
|
rs776617179
|
0.00001
|
NM_025132.4(WDR19):c.1716A>G (p.Val572=)
|
rs1730484886
|
0.00001
|
NM_025132.4(WDR19):c.1841A>G (p.Tyr614Cys)
|
rs780273002
|
0.00001
|
NM_025132.4(WDR19):c.1956G>C (p.Met652Ile)
|
rs746795141
|
0.00001
|
NM_025132.4(WDR19):c.1982+2T>C
|
rs780847651
|
0.00001
|
NM_025132.4(WDR19):c.2066T>C (p.Met689Thr)
|
rs780879248
|
0.00001
|
NM_025132.4(WDR19):c.2093A>C (p.Tyr698Ser)
|
rs370948119
|
0.00001
|
NM_025132.4(WDR19):c.2095C>T (p.Arg699Trp)
|
rs886042728
|
0.00001
|
NM_025132.4(WDR19):c.2189C>T (p.Thr730Ile)
|
rs1157984983
|
0.00001
|
NM_025132.4(WDR19):c.2253G>T (p.Glu751Asp)
|
rs1170632040
|
0.00001
|
NM_025132.4(WDR19):c.2363+1G>A
|
rs886041912
|
0.00001
|
NM_025132.4(WDR19):c.2618C>T (p.Ala873Val)
|
rs746141233
|
0.00001
|
NM_025132.4(WDR19):c.2646-5T>C
|
rs771971475
|
0.00001
|
NM_025132.4(WDR19):c.2710G>A (p.Ala904Thr)
|
rs1407602801
|
0.00001
|
NM_025132.4(WDR19):c.2779G>A (p.Val927Ile)
|
rs757105603
|
0.00001
|
NM_025132.4(WDR19):c.2876+10T>C
|
rs773692164
|
0.00001
|
NM_025132.4(WDR19):c.2877-12A>G
|
rs754511582
|
0.00001
|
NM_025132.4(WDR19):c.2948C>T (p.Ala983Val)
|
rs1293022423
|
0.00001
|
NM_025132.4(WDR19):c.3049T>G (p.Phe1017Val)
|
rs778689889
|
0.00001
|
NM_025132.4(WDR19):c.3114+3T>C
|
rs1275093466
|
0.00001
|
NM_025132.4(WDR19):c.3146C>T (p.Ser1049Leu)
|
rs763748984
|
0.00001
|
NM_025132.4(WDR19):c.3188G>A (p.Gly1063Asp)
|
rs760222006
|
0.00001
|
NM_025132.4(WDR19):c.3367C>T (p.Arg1123Trp)
|
rs369310189
|
0.00001
|
NM_025132.4(WDR19):c.3368G>A (p.Arg1123Gln)
|
rs764512369
|
0.00001
|
NM_025132.4(WDR19):c.3379G>A (p.Asp1127Asn)
|
rs767727756
|
0.00001
|
NM_025132.4(WDR19):c.3565C>T (p.His1189Tyr)
|
rs778261943
|
0.00001
|
NM_025132.4(WDR19):c.3579C>G (p.Ile1193Met)
|
rs368286694
|
0.00001
|
NM_025132.4(WDR19):c.3646A>G (p.Met1216Val)
|
rs571331592
|
0.00001
|
NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys)
|
rs587777351
|
0.00001
|
NM_025132.4(WDR19):c.3808T>A (p.Cys1270Ser)
|
rs1035768119
|
0.00001
|
NM_025132.4(WDR19):c.389G>A (p.Arg130Gln)
|
rs747065633
|
0.00001
|
NM_025132.4(WDR19):c.404T>C (p.Leu135Pro)
|
rs1361187656
|
0.00001
|
NM_025132.4(WDR19):c.410A>G (p.Lys137Arg)
|
rs763605734
|
0.00001
|
NM_025132.4(WDR19):c.42C>T (p.Gly14=)
|
rs531575276
|
0.00001
|
NM_025132.4(WDR19):c.6+3A>G
|
rs1415721879
|
0.00001
|
NM_025132.4(WDR19):c.664C>G (p.Pro222Ala)
|
rs757241775
|
0.00001
|
NM_025132.4(WDR19):c.8G>A (p.Arg3His)
|
rs922584346
|
0.00001
|
NM_025132.4(WDR19):c.977C>G (p.Ser326Cys)
|
rs1729012449
|
0.00001
|
NM_052989.3(IFT122):c.1009G>C (p.Val337Leu)
|
rs769712676
|
0.00001
|
NM_052989.3(IFT122):c.1024G>A (p.Asp342Asn)
|
rs768644199
|
0.00001
|
NM_052989.3(IFT122):c.1759C>T (p.Arg587Trp)
|
rs774723842
|
0.00001
|
NM_052989.3(IFT122):c.2017C>T (p.Arg673Ter)
|
rs1185183557
|
0.00001
|
NM_052989.3(IFT122):c.2018G>A (p.Arg673Gln)
|
rs140911243
|
0.00001
|
NM_052989.3(IFT122):c.2245A>T (p.Met749Leu)
|
rs794727330
|
0.00001
|
NM_052989.3(IFT122):c.227G>A (p.Ser76Asn)
|
rs1012943423
|
0.00001
|
NM_052989.3(IFT122):c.2299G>A (p.Ala767Thr)
|
rs199856807
|
0.00001
|
NM_052989.3(IFT122):c.2437A>G (p.Thr813Ala)
|
rs565504126
|
0.00001
|
NM_052989.3(IFT122):c.2536C>T (p.Arg846Cys)
|
rs750010740
|
0.00001
|
NM_052989.3(IFT122):c.3191A>G (p.Asn1064Ser)
|
rs767491295
|
0.00001
|
NM_052989.3(IFT122):c.3263A>G (p.Tyr1088Cys)
|
rs774343448
|
0.00001
|
NM_052989.3(IFT122):c.3268G>A (p.Val1090Met)
|
rs147517019
|
0.00001
|
NM_052989.3(IFT122):c.410G>C (p.Cys137Ser)
|
rs1278478989
|
0.00001
|
NM_052989.3(IFT122):c.748C>T (p.Arg250Cys)
|
rs373212863
|
0.00001
|
NM_147127.5(EVC2):c.109C>T (p.Pro37Ser)
|
rs769781725
|
0.00001
|
NM_147127.5(EVC2):c.1386_1387del (p.Arg463fs)
|
rs772840335
|
0.00001
|
NM_147127.5(EVC2):c.1855C>T (p.Gln619Ter)
|
rs137852925
|
0.00001
|
NM_147127.5(EVC2):c.1949_1963del (p.Phe650_Lys655delinsTer)
|
rs1431987950
|
0.00001
|
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter)
|
rs751356206
|
0.00001
|
NM_147127.5(EVC2):c.229-1G>T
|
rs1214848359
|
0.00001
|
NM_147127.5(EVC2):c.2343C>T (p.Gly781=)
|
rs762082443
|
0.00001
|
NM_147127.5(EVC2):c.2476C>T (p.Arg826Ter)
|
rs548681312
|
0.00001
|
NM_147127.5(EVC2):c.2484G>A (p.Trp828Ter)
|
rs770918273
|
0.00001
|
NM_147127.5(EVC2):c.2954A>C (p.Tyr985Ser)
|
rs753942333
|
0.00001
|
NM_147127.5(EVC2):c.3007G>A (p.Glu1003Lys)
|
rs555666020
|
0.00001
|
NM_147127.5(EVC2):c.706+2T>C
|
rs1360260333
|
0.00001
|
NM_147127.5(EVC2):c.745C>T (p.Gln249Ter)
|
rs1236566474
|
0.00001
|
NM_147127.5(EVC2):c.893del (p.His298fs)
|
rs777505711
|
0.00001
|
NM_153717.3(EVC):c.1463A>G (p.Glu488Gly)
|
rs764556070
|
0.00001
|
NM_153717.3(EVC):c.175-9G>A
|
rs753317536
|
0.00001
|
NM_153717.3(EVC):c.1777-1G>A
|
rs1262933856
|
0.00001
|
NM_153717.3(EVC):c.1777-2A>G
|
rs909612975
|
0.00001
|
NM_153717.3(EVC):c.2236C>T (p.Gln746Ter)
|
rs1446547358
|
0.00001
|
NM_153717.3(EVC):c.2894+3A>G
|
rs1424976594
|
0.00001
|
NM_153717.3(EVC):c.617G>A (p.Ser206Asn)
|
rs1017946059
|
0.00001
|
NM_153717.3(EVC):c.873dup (p.Glu292Ter)
|
rs527255616
|
0.00001
|
NM_153717.3(EVC):c.884C>G (p.Thr295Ser)
|
rs754532508
|
0.00001
|
NM_153717.3(EVC):c.928C>G (p.Leu310Val)
|
rs145300726
|
0.00001
|
NM_001102564.3(IFT43):c.103A>G (p.Asn35Asp)
|
|
|
NM_001102564.3(IFT43):c.128C>G (p.Ser43Cys)
|
|
|
NM_001102564.3(IFT43):c.147+18dup
|
rs747593685
|
|
NM_001102564.3(IFT43):c.147+3G>A
|
|
|
NM_001102564.3(IFT43):c.164T>A (p.Leu55Ter)
|
|
|
NM_001102564.3(IFT43):c.16G>A (p.Asp6Asn)
|
|
|
NM_001102564.3(IFT43):c.175C>T (p.Arg59Ter)
|
|
|
NM_001102564.3(IFT43):c.20T>A (p.Leu7Ter)
|
|
|
NM_001102564.3(IFT43):c.215+18A>G
|
|
|
NM_001102564.3(IFT43):c.26A>G (p.Glu9Gly)
|
|
|
NM_001102564.3(IFT43):c.296-5654A>G
|
|
|
NM_001102564.3(IFT43):c.296-5686_296-5685del
|
|
|
NM_001102564.3(IFT43):c.296-5691_296-5687delinsAAAAA
|
|
|
NM_001102564.3(IFT43):c.299T>C (p.Ile100Thr)
|
|
|
NM_001102564.3(IFT43):c.322G>A (p.Glu108Lys)
|
rs776120367
|
|
NM_001102564.3(IFT43):c.337G>C (p.Asp113His)
|
|
|
NM_001102564.3(IFT43):c.352G>A (p.Val118Met)
|
|
|
NM_001102564.3(IFT43):c.368+1G>A
|
|
|
NM_001102564.3(IFT43):c.369-11C>A
|
|
|
NM_001102564.3(IFT43):c.369-8del
|
rs536027245
|
|
NM_001102564.3(IFT43):c.449G>A (p.Gly150Glu)
|
|
|
NM_001102564.3(IFT43):c.468C>T (p.Leu156=)
|
rs563086463
|
|
NM_001102564.3(IFT43):c.477del (p.Val160fs)
|
|
|
NM_001102564.3(IFT43):c.507+4C>G
|
|
|
NM_001102564.3(IFT43):c.508-3C>T
|
|
|
NM_001102564.3(IFT43):c.55del (p.Arg19fs)
|
|
|
NM_001102564.3(IFT43):c.592_594del (p.Lys198del)
|
rs753836897
|
|
NM_001102564.3(IFT43):c.91G>C (p.Ala31Pro)
|
rs1330242492
|
|
NM_001199397.3(NEK1):c.1267G>A (p.Ala423Thr)
|
|
|
NM_001377.3(DYNC2H1):c.10093G>T (p.Glu3365Ter)
|
|
|
NM_001377.3(DYNC2H1):c.10094A>T (p.Glu3365Val)
|
rs1864914192
|
|
NM_001377.3(DYNC2H1):c.10099C>T (p.Arg3367Cys)
|
rs200710887
|
|
NM_001377.3(DYNC2H1):c.10241del (p.Asp3414fs)
|
|
|
NM_001377.3(DYNC2H1):c.10309G>T (p.Glu3437Ter)
|
|
|
NM_001377.3(DYNC2H1):c.10342C>T (p.Gln3448Ter)
|
|
|
NM_001377.3(DYNC2H1):c.10444C>T (p.Gln3482Ter)
|
|
|
NM_001377.3(DYNC2H1):c.10462-2A>G
|
|
|
NM_001377.3(DYNC2H1):c.10606-14A>G
|
rs989023092
|
|
NM_001377.3(DYNC2H1):c.10798_10799del (p.Met3600fs)
|
|
|
NM_001377.3(DYNC2H1):c.10802T>G (p.Leu3601Ter)
|
|
|
NM_001377.3(DYNC2H1):c.10808A>C (p.Lys3603Thr)
|
|
|
NM_001377.3(DYNC2H1):c.10822C>T (p.Gln3608Ter)
|
|
|
NM_001377.3(DYNC2H1):c.10828dup (p.Ile3610fs)
|
|
|
NM_001377.3(DYNC2H1):c.11150_11151insT (p.Leu3718fs)
|
|
|
NM_001377.3(DYNC2H1):c.1129dup (p.Thr377fs)
|
|
|
NM_001377.3(DYNC2H1):c.11315G>A (p.Arg3772His)
|
|
|
NM_001377.3(DYNC2H1):c.11382+18_11382+19insGGT
|
rs3834451
|
|
NM_001377.3(DYNC2H1):c.11462dup (p.Leu3821fs)
|
|
|
NM_001377.3(DYNC2H1):c.11565dup (p.Asp3856fs)
|
|
|
NM_001377.3(DYNC2H1):c.11578C>T (p.Arg3860Ter)
|
|
|
NM_001377.3(DYNC2H1):c.11587del (p.Ala3863fs)
|
|
|
NM_001377.3(DYNC2H1):c.11726-2del
|
|
|
NM_001377.3(DYNC2H1):c.12044_12048del (p.Ile4015fs)
|
|
|
NM_001377.3(DYNC2H1):c.12199C>T (p.Arg4067Ter)
|
|
|
NM_001377.3(DYNC2H1):c.12367-2A>G
|
|
|
NM_001377.3(DYNC2H1):c.12466_12469del (p.Asp4156fs)
|
rs766816050
|
|
NM_001377.3(DYNC2H1):c.12480dup (p.Gln4161fs)
|
|
|
NM_001377.3(DYNC2H1):c.12538_12540del (p.Leu4180del)
|
|
|
NM_001377.3(DYNC2H1):c.12575del (p.Gly4192fs)
|
|
|
NM_001377.3(DYNC2H1):c.12813_12816dup (p.Thr4273fs)
|
|
|
NM_001377.3(DYNC2H1):c.1355_1358del (p.Ile452fs)
|
rs1223907858
|
|
NM_001377.3(DYNC2H1):c.136_145delinsCC (p.Gly46fs)
|
|
|
NM_001377.3(DYNC2H1):c.1370T>G (p.Leu457Ter)
|
|
|
NM_001377.3(DYNC2H1):c.1540C>T (p.Arg514Ter)
|
rs1565317399
|
|
NM_001377.3(DYNC2H1):c.1552C>T (p.Gln518Ter)
|
|
|
NM_001377.3(DYNC2H1):c.1582A>T (p.Lys528Ter)
|
|
|
NM_001377.3(DYNC2H1):c.1661+1G>A
|
|
|
NM_001377.3(DYNC2H1):c.1662-2A>G
|
|
|
NM_001377.3(DYNC2H1):c.1847_1852del (p.Ile616_Leu617del)
|
rs773897318
|
|
NM_001377.3(DYNC2H1):c.1857+1G>T
|
|
|
NM_001377.3(DYNC2H1):c.2026C>T (p.Gln676Ter)
|
|
|
NM_001377.3(DYNC2H1):c.2105del (p.Lys702fs)
|
|
|
NM_001377.3(DYNC2H1):c.216del (p.Asp73fs)
|
|
|
NM_001377.3(DYNC2H1):c.250G>T (p.Glu84Ter)
|
|
|
NM_001377.3(DYNC2H1):c.2561T>G (p.Leu854Ter)
|
|
|
NM_001377.3(DYNC2H1):c.2574+1G>A
|
rs1565329461
|
|
NM_001377.3(DYNC2H1):c.2721T>A (p.Cys907Ter)
|
|
|
NM_001377.3(DYNC2H1):c.2818+1G>C
|
rs1591316134
|
|
NM_001377.3(DYNC2H1):c.2946+1G>C
|
|
|
NM_001377.3(DYNC2H1):c.2992C>T (p.Arg998Ter)
|
|
|
NM_001377.3(DYNC2H1):c.2993_2994insTTCG (p.Thr999fs)
|
|
|
NM_001377.3(DYNC2H1):c.3022_3025del (p.Ile1008fs)
|
|
|
NM_001377.3(DYNC2H1):c.3148G>T (p.Glu1050Ter)
|
|
|
NM_001377.3(DYNC2H1):c.3178C>T (p.Gln1060Ter)
|
|
|
NM_001377.3(DYNC2H1):c.3262dup (p.Ile1088fs)
|
rs767206815
|
|
NM_001377.3(DYNC2H1):c.340C>T (p.Gln114Ter)
|
|
|
NM_001377.3(DYNC2H1):c.3843T>A (p.Tyr1281Ter)
|
|
|
NM_001377.3(DYNC2H1):c.385_392del (p.Asn129fs)
|
|
|
NM_001377.3(DYNC2H1):c.3907G>T (p.Gly1303Ter)
|
|
|
NM_001377.3(DYNC2H1):c.4075G>T (p.Gly1359Ter)
|
|
|
NM_001377.3(DYNC2H1):c.4185_4186delinsCT (p.Gly1396Ter)
|
|
|
NM_001377.3(DYNC2H1):c.4280del (p.Pro1427fs)
|
|
|
NM_001377.3(DYNC2H1):c.4379-5_4386del
|
|
|
NM_001377.3(DYNC2H1):c.4493del (p.Thr1498fs)
|
|
|
NM_001377.3(DYNC2H1):c.4567C>T (p.Arg1523Ter)
|
|
|
NM_001377.3(DYNC2H1):c.4698del (p.Gln1566fs)
|
rs1565359085
|
|
NM_001377.3(DYNC2H1):c.476T>A (p.Leu159Ter)
|
|
|
NM_001377.3(DYNC2H1):c.4838T>A (p.Leu1613Ter)
|
|
|
NM_001377.3(DYNC2H1):c.4968+1G>A
|
|
|
NM_001377.3(DYNC2H1):c.499C>T (p.Arg167Ter)
|
rs755464335
|
|
NM_001377.3(DYNC2H1):c.5165del (p.Lys1722fs)
|
|
|
NM_001377.3(DYNC2H1):c.5578C>T (p.Gln1860Ter)
|
|
|
NM_001377.3(DYNC2H1):c.5643_5646del (p.Arg1881fs)
|
|
|
NM_001377.3(DYNC2H1):c.5675-1G>A
|
|
|
NM_001377.3(DYNC2H1):c.6017del (p.Tyr2006fs)
|
|
|
NM_001377.3(DYNC2H1):c.6116G>A (p.Arg2039His)
|
rs1555057503
|
|
NM_001377.3(DYNC2H1):c.6140-5A>G
|
|
|
NM_001377.3(DYNC2H1):c.621del (p.Glu208fs)
|
|
|
NM_001377.3(DYNC2H1):c.6220C>T (p.Arg2074Ter)
|
|
|
NM_001377.3(DYNC2H1):c.6244G>T (p.Glu2082Ter)
|
|
|
NM_001377.3(DYNC2H1):c.624_625delinsAA (p.Phe209Ile)
|
rs431905498
|
|
NM_001377.3(DYNC2H1):c.6254del (p.Gln2085fs)
|
|
|
NM_001377.3(DYNC2H1):c.626_642del (p.Phe209fs)
|
|
|
NM_001377.3(DYNC2H1):c.6477+1G>A
|
rs756313208
|
|
NM_001377.3(DYNC2H1):c.6478-1G>A
|
|
|
NM_001377.3(DYNC2H1):c.6485_6486del (p.Tyr2162fs)
|
|
|
NM_001377.3(DYNC2H1):c.6805C>T (p.Gln2269Ter)
|
|
|
NM_001377.3(DYNC2H1):c.6910G>A (p.Ala2304Thr)
|
rs747348765
|
|
NM_001377.3(DYNC2H1):c.7053_7054del (p.Cys2351_Glu2352delinsTer)
|
|
|
NM_001377.3(DYNC2H1):c.7284T>A (p.Cys2428Ter)
|
|
|
NM_001377.3(DYNC2H1):c.7292+2del
|
|
|
NM_001377.3(DYNC2H1):c.7435C>T (p.Gln2479Ter)
|
rs200989423
|
|
NM_001377.3(DYNC2H1):c.7540+14G>A
|
rs115273161
|
|
NM_001377.3(DYNC2H1):c.7858C>T (p.Arg2620Ter)
|
|
|
NM_001377.3(DYNC2H1):c.7894G>T (p.Glu2632Ter)
|
|
|
NM_001377.3(DYNC2H1):c.7903G>T (p.Glu2635Ter)
|
|
|
NM_001377.3(DYNC2H1):c.8122del (p.Gln2707_Val2708insTer)
|
|
|
NM_001377.3(DYNC2H1):c.8145_8146delinsAT (p.Tyr2715_Gln2716delinsTer)
|
rs1565390180
|
|
NM_001377.3(DYNC2H1):c.8190G>T (p.Leu2730Phe)
|
rs770800903
|
|
NM_001377.3(DYNC2H1):c.8255A>C (p.Lys2752Thr)
|
|
|
NM_001377.3(DYNC2H1):c.8311+1G>A
|
rs1555068270
|
|
NM_001377.3(DYNC2H1):c.8534del (p.Asn2845fs)
|
rs431905507
|
|
NM_001377.3(DYNC2H1):c.8604dup (p.Pro2869fs)
|
|
|
NM_001377.3(DYNC2H1):c.8622del (p.Leu2876fs)
|
|
|
NM_001377.3(DYNC2H1):c.8832+1G>T
|
|
|
NM_001377.3(DYNC2H1):c.8933T>G (p.Leu2978Ter)
|
|
|
NM_001377.3(DYNC2H1):c.8946+1G>T
|
|
|
NM_001377.3(DYNC2H1):c.9093G>A (p.Trp3031Ter)
|
|
|
NM_001377.3(DYNC2H1):c.9157C>T (p.Arg3053Ter)
|
rs1485345396
|
|
NM_001377.3(DYNC2H1):c.9382dup (p.Arg3128fs)
|
|
|
NM_001377.3(DYNC2H1):c.9638A>G (p.Tyr3213Cys)
|
rs923729821
|
|
NM_001377.3(DYNC2H1):c.9870G>A (p.Trp3290Ter)
|
|
|
NM_001377.3(DYNC2H1):c.9893C>A (p.Ser3298Ter)
|
|
|
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs)
|
rs587777139
|
|
NM_014714.4(IFT140):c.1001_1003del (p.Lys334_Val335delinsIle)
|
|
|
NM_014714.4(IFT140):c.1009+15C>T
|
|
|
NM_014714.4(IFT140):c.1009+18G>A
|
|
|
NM_014714.4(IFT140):c.1009+1G>T
|
|
|
NM_014714.4(IFT140):c.1010-6_1013del
|
|
|
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.1102A>G (p.Arg368Gly)
|
|
|
NM_014714.4(IFT140):c.1103G>C (p.Arg368Thr)
|
rs765706103
|
|
NM_014714.4(IFT140):c.1107G>A (p.Trp369Ter)
|
|
|
NM_014714.4(IFT140):c.1118C>A (p.Thr373Asn)
|
|
|
NM_014714.4(IFT140):c.1155+1G>A
|
|
|
NM_014714.4(IFT140):c.1158G>A (p.Trp386Ter)
|
|
|
NM_014714.4(IFT140):c.1218G>T (p.Glu406Asp)
|
|
|
NM_014714.4(IFT140):c.1229C>A (p.Ser410Ter)
|
|
|
NM_014714.4(IFT140):c.1245G>T (p.Gln415His)
|
|
|
NM_014714.4(IFT140):c.1264G>A (p.Val422Ile)
|
|
|
NM_014714.4(IFT140):c.1288_1289dup (p.Phe431fs)
|
|
|
NM_014714.4(IFT140):c.1290C>T (p.Cys430=)
|
|
|
NM_014714.4(IFT140):c.1297T>G (p.Ser433Ala)
|
|
|
NM_014714.4(IFT140):c.1357A>C (p.Lys453Gln)
|
|
|
NM_014714.4(IFT140):c.1359+1G>C
|
|
|
NM_014714.4(IFT140):c.1359_1359+3delinsAC
|
rs2141816540
|
|
NM_014714.4(IFT140):c.1369G>A (p.Ala457Thr)
|
rs747510464
|
|
NM_014714.4(IFT140):c.1369G>T (p.Ala457Ser)
|
|
|
NM_014714.4(IFT140):c.1380del (p.Asn460fs)
|
rs431905522
|
|
NM_014714.4(IFT140):c.1405C>G (p.Leu469Val)
|
rs190034269
|
|
NM_014714.4(IFT140):c.1422_1423insAA (p.Arg475fs)
|
rs2141800223
|
|
NM_014714.4(IFT140):c.1428T>C (p.Ser476=)
|
rs771030841
|
|
NM_014714.4(IFT140):c.1429G>T (p.Ala477Ser)
|
rs2034677396
|
|
NM_014714.4(IFT140):c.1432+1G>A
|
|
|
NM_014714.4(IFT140):c.1437CTT[1] (p.Phe480del)
|
|
|
NM_014714.4(IFT140):c.144G>C (p.Glu48Asp)
|
|
|
NM_014714.4(IFT140):c.1468C>A (p.His490Asn)
|
|
|
NM_014714.4(IFT140):c.148-16_148-15delinsGC
|
rs2142043610
|
|
NM_014714.4(IFT140):c.1525-2_1525-1del
|
|
|
NM_014714.4(IFT140):c.1536_1539del (p.Lys512fs)
|
|
|
NM_014714.4(IFT140):c.1584C>A (p.Asp528Glu)
|
|
|
NM_014714.4(IFT140):c.1619T>A (p.Leu540Ter)
|
|
|
NM_014714.4(IFT140):c.1619dup (p.Leu540fs)
|
|
|
NM_014714.4(IFT140):c.1624C>T (p.His542Tyr)
|
|
|
NM_014714.4(IFT140):c.1625A>G (p.His542Arg)
|
|
|
NM_014714.4(IFT140):c.1649G>C (p.Arg550Pro)
|
rs762399912
|
|
NM_014714.4(IFT140):c.1653-10del
|
rs760597633
|
|
NM_014714.4(IFT140):c.166dup (p.Thr56fs)
|
|
|
NM_014714.4(IFT140):c.1687G>T (p.Ala563Ser)
|
|
|
NM_014714.4(IFT140):c.168_171del (p.His57fs)
|
|
|
NM_014714.4(IFT140):c.1717G>A (p.Ala573Thr)
|
rs528350505
|
|
NM_014714.4(IFT140):c.1724T>A (p.Leu575Gln)
|
|
|
NM_014714.4(IFT140):c.1726C>G (p.Arg576Gly)
|
|
|
NM_014714.4(IFT140):c.1737C>T (p.Ser579=)
|
rs1230491407
|
|
NM_014714.4(IFT140):c.175G>T (p.Glu59Ter)
|
|
|
NM_014714.4(IFT140):c.1770+15C>G
|
rs374526643
|
|
NM_014714.4(IFT140):c.1770+1G>A
|
|
|
NM_014714.4(IFT140):c.177G>C (p.Glu59Asp)
|
rs1431384802
|
|
NM_014714.4(IFT140):c.1823_1824del (p.Thr608fs)
|
|
|
NM_014714.4(IFT140):c.1842_1843insGGC (p.Phe614_Lys615insGly)
|
|
|
NM_014714.4(IFT140):c.1849G>A (p.Gly617Arg)
|
|
|
NM_014714.4(IFT140):c.1858G>A (p.Asp620Asn)
|
|
|
NM_014714.4(IFT140):c.1865G>A (p.Arg622Lys)
|
|
|
NM_014714.4(IFT140):c.1874T>C (p.Leu625Pro)
|
|
|
NM_014714.4(IFT140):c.188G>C (p.Arg63Pro)
|
rs765411860
|
|
NM_014714.4(IFT140):c.1891G>C (p.Glu631Gln)
|
rs777613696
|
|
NM_014714.4(IFT140):c.1924G>A (p.Gly642Arg)
|
|
|
NM_014714.4(IFT140):c.1933A>G (p.Asn645Asp)
|
rs540658203
|
|
NM_014714.4(IFT140):c.1944del (p.Pro648_Val649insTer)
|
|
|
NM_014714.4(IFT140):c.1945G>A (p.Val649Met)
|
rs534052238
|
|
NM_014714.4(IFT140):c.1963C>T (p.Gln655Ter)
|
|
|
NM_014714.4(IFT140):c.1968_1969delinsCT (p.Glu657Ter)
|
|
|
NM_014714.4(IFT140):c.2000A>G (p.Gln667Arg)
|
|
|
NM_014714.4(IFT140):c.2011C>T (p.Arg671Cys)
|
|
|
NM_014714.4(IFT140):c.2068-2A>G
|
rs1489989834
|
|
NM_014714.4(IFT140):c.2129G>T (p.Ser710Ile)
|
|
|
NM_014714.4(IFT140):c.2143G>T (p.Ala715Ser)
|
|
|
NM_014714.4(IFT140):c.2158C>T (p.Leu720Phe)
|
|
|
NM_014714.4(IFT140):c.2203G>A (p.Glu735Lys)
|
|
|
NM_014714.4(IFT140):c.2214_2217del (p.Asp738fs)
|
rs1415763185
|
|
NM_014714.4(IFT140):c.2259G>A (p.Met753Ile)
|
rs2033203151
|
|
NM_014714.4(IFT140):c.2278C>T (p.Arg760Ter)
|
rs1555486629
|
|
NM_014714.4(IFT140):c.2305G>C (p.Asp769His)
|
|
|
NM_014714.4(IFT140):c.2317C>T (p.Arg773Trp)
|
|
|
NM_014714.4(IFT140):c.2348T>A (p.Val783Asp)
|
|
|
NM_014714.4(IFT140):c.2355A>G (p.Ile785Met)
|
rs2033196611
|
|
NM_014714.4(IFT140):c.2399+6G>T
|
|
|
NM_014714.4(IFT140):c.2400-12G>A
|
rs186193750
|
|
NM_014714.4(IFT140):c.2400-13_2409del
|
|
|
NM_014714.4(IFT140):c.240G>A (p.Trp80Ter)
|
rs1471379682
|
|
NM_014714.4(IFT140):c.2434G>A (p.Val812Met)
|
|
|
NM_014714.4(IFT140):c.2443C>T (p.Gln815Ter)
|
rs2141185231
|
|
NM_014714.4(IFT140):c.2458G>A (p.Ala820Thr)
|
rs2141185138
|
|
NM_014714.4(IFT140):c.2464del (p.Val822fs)
|
|
|
NM_014714.4(IFT140):c.2469C>T (p.Cys823=)
|
|
|
NM_014714.4(IFT140):c.2475G>T (p.Gly825=)
|
|
|
NM_014714.4(IFT140):c.2483del (p.Gly828fs)
|
|
|
NM_014714.4(IFT140):c.2494G>T (p.Gly832Trp)
|
|
|
NM_014714.4(IFT140):c.2500C>T (p.Arg834Ter)
|
rs777399400
|
|
NM_014714.4(IFT140):c.2516C>A (p.Ala839Glu)
|
|
|
NM_014714.4(IFT140):c.2548dup (p.Ala850fs)
|
|
|
NM_014714.4(IFT140):c.2550C>G (p.Ala850=)
|
rs2745180
|
|
NM_014714.4(IFT140):c.2554C>G (p.Leu852Val)
|
|
|
NM_014714.4(IFT140):c.2572A>T (p.Met858Leu)
|
|
|
NM_014714.4(IFT140):c.2577+25G>A
|
rs1423102192
|
|
NM_014714.4(IFT140):c.258G>A (p.Thr86=)
|
rs766569165
|
|
NM_014714.4(IFT140):c.2605T>A (p.Cys869Ser)
|
|
|
NM_014714.4(IFT140):c.2612G>A (p.Arg871His)
|
rs905240853
|
|
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.2638C>T (p.Gln880Ter)
|
|
|
NM_014714.4(IFT140):c.2650C>G (p.Arg884Gly)
|
rs554196965
|
|
NM_014714.4(IFT140):c.2655del (p.Trp885fs)
|
rs762111572
|
|
NM_014714.4(IFT140):c.2671del (p.Gln890_Val891insTer)
|
rs2141179932
|
|
NM_014714.4(IFT140):c.2682C>A (p.His894Gln)
|
rs774192784
|
|
NM_014714.4(IFT140):c.2682delinsAA (p.His894fs)
|
|
|
NM_014714.4(IFT140):c.268A>G (p.Lys90Glu)
|
|
|
NM_014714.4(IFT140):c.2716C>T (p.Arg906Cys)
|
rs755504361
|
|
NM_014714.4(IFT140):c.2717G>T (p.Arg906Leu)
|
|
|
NM_014714.4(IFT140):c.2767_2768+2del
|
rs769075694
|
|
NM_014714.4(IFT140):c.2769-1G>T
|
|
|
NM_014714.4(IFT140):c.2828C>T (p.Pro943Leu)
|
rs200561100
|
|
NM_014714.4(IFT140):c.2828_2829dup (p.Ser944fs)
|
|
|
NM_014714.4(IFT140):c.2864+1G>A
|
|
|
NM_014714.4(IFT140):c.2865-8G>T
|
|
|
NM_014714.4(IFT140):c.2872_2875delinsGT (p.Trp958fs)
|
|
|
NM_014714.4(IFT140):c.2882G>A (p.Trp961Ter)
|
|
|
NM_014714.4(IFT140):c.2909_2920del (p.Glu970_Ala973del)
|
rs1489901262
|
|
NM_014714.4(IFT140):c.290C>T (p.Thr97Met)
|
|
|
NM_014714.4(IFT140):c.2941G>A (p.Ala981Thr)
|
|
|
NM_014714.4(IFT140):c.2948del (p.Asp983fs)
|
rs2141172226
|
|
NM_014714.4(IFT140):c.2997+13C>T
|
|
|
NM_014714.4(IFT140):c.2997+6G>T
|
|
|
NM_014714.4(IFT140):c.299del (p.Leu100fs)
|
|
|
NM_014714.4(IFT140):c.3003G>T (p.Ala1001=)
|
rs151293332
|
|
NM_014714.4(IFT140):c.3052C>T (p.Arg1018Cys)
|
rs767290624
|
|
NM_014714.4(IFT140):c.3060C>G (p.Tyr1020Ter)
|
|
|
NM_014714.4(IFT140):c.3079G>C (p.Gly1027Arg)
|
|
|
NM_014714.4(IFT140):c.308_309del (p.Thr103fs)
|
|
|
NM_014714.4(IFT140):c.3096C>G (p.Phe1032Leu)
|
|
|
NM_014714.4(IFT140):c.3109C>G (p.Gln1037Glu)
|
rs774547622
|
|
NM_014714.4(IFT140):c.3130C>T (p.Arg1044Cys)
|
|
|
NM_014714.4(IFT140):c.3142_3144del
|
rs754866110
|
|
NM_014714.4(IFT140):c.3157G>A (p.Asp1053Asn)
|
rs148194893
|
|
NM_014714.4(IFT140):c.316A>G (p.Ile106Val)
|
rs1465706247
|
|
NM_014714.4(IFT140):c.3192del (p.Glu1065fs)
|
rs1567327347
|
|
NM_014714.4(IFT140):c.3215G>A (p.Arg1072Gln)
|
rs201884886
|
|
NM_014714.4(IFT140):c.3219C>A (p.Tyr1073Ter)
|
|
|
NM_014714.4(IFT140):c.3222C>G (p.Tyr1074Ter)
|
|
|
NM_014714.4(IFT140):c.3250_3253dup (p.Val1085fs)
|
rs766084603
|
|
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.3299T>C (p.Leu1100Pro)
|
|
|
NM_014714.4(IFT140):c.3325_3327dup (p.Ala1109_Leu1110insAla)
|
|
|
NM_014714.4(IFT140):c.332G>A (p.Trp111Ter)
|
|
|
NM_014714.4(IFT140):c.3338T>C (p.Ile1113Thr)
|
|
|
NM_014714.4(IFT140):c.3352G>T (p.Asp1118Tyr)
|
|
|
NM_014714.4(IFT140):c.3368C>T (p.Pro1123Leu)
|
rs781672845
|
|
NM_014714.4(IFT140):c.3408_3409del (p.His1136fs)
|
rs765669703
|
|
NM_014714.4(IFT140):c.3425C>T (p.Ala1142Val)
|
rs370255916
|
|
NM_014714.4(IFT140):c.3453G>C (p.Lys1151Asn)
|
|
|
NM_014714.4(IFT140):c.3454-1G>A
|
|
|
NM_014714.4(IFT140):c.347A>T (p.Asn116Ile)
|
|
|
NM_014714.4(IFT140):c.3484C>T (p.Gln1162Ter)
|
|
|
NM_014714.4(IFT140):c.3522G>T (p.Met1174Ile)
|
|
|
NM_014714.4(IFT140):c.3525C>T (p.Thr1175=)
|
rs752664070
|
|
NM_014714.4(IFT140):c.3565C>T (p.Arg1189Trp)
|
|
|
NM_014714.4(IFT140):c.3566G>T (p.Arg1189Leu)
|
rs149837281
|
|
NM_014714.4(IFT140):c.3598A>G (p.Met1200Val)
|
rs566568065
|
|
NM_014714.4(IFT140):c.3600G>A (p.Met1200Ile)
|
|
|
NM_014714.4(IFT140):c.3611G>A (p.Ser1204Asn)
|
|
|
NM_014714.4(IFT140):c.3635A>G (p.Tyr1212Cys)
|
|
|
NM_014714.4(IFT140):c.3649A>C (p.Asn1217His)
|
|
|
NM_014714.4(IFT140):c.3674T>C (p.Leu1225Pro)
|
|
|
NM_014714.4(IFT140):c.370-20G>C
|
rs200779129
|
|
NM_014714.4(IFT140):c.370-2A>T
|
|
|
NM_014714.4(IFT140):c.3701T>C (p.Ile1234Thr)
|
|
|
NM_014714.4(IFT140):c.3712G>A (p.Ala1238Thr)
|
rs376953801
|
|
NM_014714.4(IFT140):c.3712G>T (p.Ala1238Ser)
|
|
|
NM_014714.4(IFT140):c.3777del (p.Trp1259fs)
|
|
|
NM_014714.4(IFT140):c.3810C>G (p.Ile1270Met)
|
rs557923123
|
|
NM_014714.4(IFT140):c.3829C>T (p.Arg1277Trp)
|
|
|
NM_014714.4(IFT140):c.390G>A (p.Trp130Ter)
|
|
|
NM_014714.4(IFT140):c.3916dup (p.Ala1306fs)
|
rs587776909
|
|
NM_014714.4(IFT140):c.3932A>G (p.Tyr1311Cys)
|
|
|
NM_014714.4(IFT140):c.3943GCCAAG[4] (p.1315AK[4])
|
rs746697405
|
|
NM_014714.4(IFT140):c.3954_3960delinsC (p.Lys1318_Lys1320delinsAsn)
|
|
|
NM_014714.4(IFT140):c.3963_3978del (p.Ser1321fs)
|
|
|
NM_014714.4(IFT140):c.3981del (p.Arg1328fs)
|
rs1431530916
|
|
NM_014714.4(IFT140):c.4009G>A (p.Ala1337Thr)
|
|
|
NM_014714.4(IFT140):c.4041-10C>T
|
|
|
NM_014714.4(IFT140):c.4041-2A>G
|
|
|
NM_014714.4(IFT140):c.4078T>A (p.Cys1360Ser)
|
|
|
NM_014714.4(IFT140):c.4123A>G (p.Ile1375Val)
|
rs1258339035
|
|
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.4183-11C>T
|
rs776525322
|
|
NM_014714.4(IFT140):c.4208GGC[2] (p.Arg1405del)
|
rs754312950
|
|
NM_014714.4(IFT140):c.4227C>G (p.Ala1409=)
|
rs143920103
|
|
NM_014714.4(IFT140):c.4233G>T (p.Met1411Ile)
|
|
|
NM_014714.4(IFT140):c.4273C>T (p.Arg1425Trp)
|
rs138697817
|
|
NM_014714.4(IFT140):c.4286T>C (p.Leu1429Pro)
|
|
|
NM_014714.4(IFT140):c.4323dup (p.Asn1442fs)
|
rs2141088947
|
|
NM_014714.4(IFT140):c.4347_4367del (p.Leu1450_Glu1456del)
|
rs760889117
|
|
NM_014714.4(IFT140):c.4351G>C (p.Asp1451His)
|
|
|
NM_014714.4(IFT140):c.4375G>T (p.Asp1459Tyr)
|
|
|
NM_014714.4(IFT140):c.458C>T (p.Thr153Met)
|
|
|
NM_014714.4(IFT140):c.474G>C (p.Arg158=)
|
rs145287241
|
|
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.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.485C>T (p.Pro162Leu)
|
|
|
NM_014714.4(IFT140):c.490G>T (p.Glu164Ter)
|
rs559314300
|
|
NM_014714.4(IFT140):c.494A>G (p.Asp165Gly)
|
|
|
NM_014714.4(IFT140):c.565del (p.Ser189fs)
|
|
|
NM_014714.4(IFT140):c.643C>T (p.His215Tyr)
|
|
|
NM_014714.4(IFT140):c.652G>A (p.Asp218Asn)
|
|
|
NM_014714.4(IFT140):c.662del (p.Gly221fs)
|
|
|
NM_014714.4(IFT140):c.683C>G (p.Ser228Cys)
|
rs752659125
|
|
NM_014714.4(IFT140):c.710T>C (p.Phe237Ser)
|
|
|
NM_014714.4(IFT140):c.739del (p.Val247fs)
|
|
|
NM_014714.4(IFT140):c.742del (p.Val248fs)
|
|
|
NM_014714.4(IFT140):c.74C>G (p.Pro25Arg)
|
|
|
NM_014714.4(IFT140):c.802G>A (p.Val268Met)
|
|
|
NM_014714.4(IFT140):c.810+1G>A
|
|
|
NM_014714.4(IFT140):c.811-2A>G
|
|
|
NM_014714.4(IFT140):c.857T>C (p.Ile286Thr)
|
|
|
NM_014714.4(IFT140):c.867C>G (p.Ser289Arg)
|
rs145858131
|
|
NM_014714.4(IFT140):c.874G>A (p.Val292Met)
|
rs431905521
|
|
NM_014714.4(IFT140):c.882C>A (p.Ala294=)
|
|
|
NM_014714.4(IFT140):c.902+87T>C
|
|
|
NM_014714.4(IFT140):c.909G>A (p.Trp303Ter)
|
|
|
NM_014714.4(IFT140):c.919C>T (p.Arg307Ter)
|
rs1307461796
|
|
NM_014714.4(IFT140):c.922G>A (p.Gly308Arg)
|
|
|
NM_014714.4(IFT140):c.937C>G (p.Leu313Val)
|
rs758052767
|
|
NM_014714.4(IFT140):c.995A>C (p.Tyr332Ser)
|
|
|
NM_014714.4(IFT140):c.996C>G (p.Tyr332Ter)
|
|
|
NM_015631.6(TCTN3):c.1096-2A>G
|
|
|
NM_015631.6(TCTN3):c.118del (p.Arg40fs)
|
|
|
NM_015631.6(TCTN3):c.1476T>A (p.Cys492Ter)
|
|
|
NM_015631.6(TCTN3):c.182dup (p.Gly62fs)
|
rs763132585
|
|
NM_015631.6(TCTN3):c.256+2_256+7del
|
rs1224169161
|
|
NM_015631.6(TCTN3):c.276_277del (p.Cys92_Asp93delinsTer)
|
rs553175533
|
|
NM_015631.6(TCTN3):c.393G>A (p.Trp131Ter)
|
|
|
NM_015631.6(TCTN3):c.443C>G (p.Ser148Ter)
|
|
|
NM_015631.6(TCTN3):c.622dup (p.Tyr208fs)
|
|
|
NM_015631.6(TCTN3):c.650_653del (p.Tyr217fs)
|
rs749018985
|
|
NM_015631.6(TCTN3):c.710del (p.Gly237fs)
|
rs779729881
|
|
NM_015631.6(TCTN3):c.776dup (p.Lys260fs)
|
|
|
NM_015631.6(TCTN3):c.888+2T>C
|
|
|
NM_015662.3(IFT172):c.1005+16G>A
|
|
|
NM_015662.3(IFT172):c.1006G>A (p.Val336Met)
|
|
|
NM_015662.3(IFT172):c.1042G>A (p.Val348Met)
|
|
|
NM_015662.3(IFT172):c.1060G>T (p.Gly354Cys)
|
|
|
NM_015662.3(IFT172):c.1078del (p.Glu359_Val360insTer)
|
rs1453282096
|
|
NM_015662.3(IFT172):c.113G>A (p.Arg38Gln)
|
rs552861632
|
|
NM_015662.3(IFT172):c.1176G>C (p.Trp392Cys)
|
|
|
NM_015662.3(IFT172):c.1304del (p.Phe435fs)
|
|
|
NM_015662.3(IFT172):c.1310_1311insAAA (p.Met436_Asn437insLys)
|
|
|
NM_015662.3(IFT172):c.1330C>G (p.Arg444Gly)
|
|
|
NM_015662.3(IFT172):c.1330C>T (p.Arg444Cys)
|
rs1038040281
|
|
NM_015662.3(IFT172):c.1336_1338del (p.Asn446del)
|
|
|
NM_015662.3(IFT172):c.1337A>G (p.Asn446Ser)
|
|
|
NM_015662.3(IFT172):c.133G>T (p.Glu45Ter)
|
|
|
NM_015662.3(IFT172):c.1342_1343del (p.Arg448fs)
|
rs1558404443
|
|
NM_015662.3(IFT172):c.137A>T (p.His46Leu)
|
|
|
NM_015662.3(IFT172):c.1411+2T>C
|
|
|
NM_015662.3(IFT172):c.1435A>G (p.Ile479Val)
|
rs1667635292
|
|
NM_015662.3(IFT172):c.1459C>T (p.Arg487Cys)
|
|
|
NM_015662.3(IFT172):c.1510G>C (p.Asp504His)
|
|
|
NM_015662.3(IFT172):c.1525-2A>G
|
|
|
NM_015662.3(IFT172):c.1525-6C>G
|
rs201231401
|
|
NM_015662.3(IFT172):c.1532T>C (p.Leu511Pro)
|
|
|
NM_015662.3(IFT172):c.1535A>G (p.Tyr512Cys)
|
|
|
NM_015662.3(IFT172):c.1590G>T (p.Gln530His)
|
|
|
NM_015662.3(IFT172):c.1627C>T (p.Arg543Ter)
|
|
|
NM_015662.3(IFT172):c.1636C>A (p.Leu546Met)
|
|
|
NM_015662.3(IFT172):c.1646G>C (p.Trp549Ser)
|
|
|
NM_015662.3(IFT172):c.1692+1G>A
|
|
|
NM_015662.3(IFT172):c.1698T>A (p.Asp566Glu)
|
rs765731241
|
|
NM_015662.3(IFT172):c.1732G>C (p.Glu578Gln)
|
|
|
NM_015662.3(IFT172):c.1740G>A (p.Met580Ile)
|
|
|
NM_015662.3(IFT172):c.1789A>G (p.Ile597Val)
|
|
|
NM_015662.3(IFT172):c.1794G>C (p.Glu598Asp)
|
rs147885790
|
|
NM_015662.3(IFT172):c.180G>T (p.Met60Ile)
|
|
|
NM_015662.3(IFT172):c.1835C>T (p.Thr612Ile)
|
|
|
NM_015662.3(IFT172):c.184-1G>A
|
|
|
NM_015662.3(IFT172):c.184-23dup
|
rs747166252
|
|
NM_015662.3(IFT172):c.1846G>T (p.Glu616Ter)
|
|
|
NM_015662.3(IFT172):c.1849A>G (p.Thr617Ala)
|
rs1403737174
|
|
NM_015662.3(IFT172):c.1871_1872del (p.Thr624fs)
|
|
|
NM_015662.3(IFT172):c.1931C>A (p.Ala644Glu)
|
rs371919234
|
|
NM_015662.3(IFT172):c.1931C>T (p.Ala644Val)
|
rs371919234
|
|
NM_015662.3(IFT172):c.1969G>A (p.Ala657Thr)
|
|
|
NM_015662.3(IFT172):c.196A>G (p.Ser66Gly)
|
|
|
NM_015662.3(IFT172):c.1999G>A (p.Ala667Thr)
|
rs755632444
|
|
NM_015662.3(IFT172):c.2017G>C (p.Glu673Gln)
|
|
|
NM_015662.3(IFT172):c.2044T>G (p.Tyr682Asp)
|
|
|
NM_015662.3(IFT172):c.2060G>A (p.Arg687His)
|
|
|
NM_015662.3(IFT172):c.2074del (p.Glu692fs)
|
|
|
NM_015662.3(IFT172):c.2148G>T (p.Gln716His)
|
|
|
NM_015662.3(IFT172):c.2158del (p.Arg720fs)
|
rs587777086
|
|
NM_015662.3(IFT172):c.2193+4C>G
|
|
|
NM_015662.3(IFT172):c.2193+5C>T
|
rs2148507369
|
|
NM_015662.3(IFT172):c.2201C>G (p.Pro734Arg)
|
|
|
NM_015662.3(IFT172):c.2212A>T (p.Lys738Ter)
|
|
|
NM_015662.3(IFT172):c.2234A>C (p.Gln745Pro)
|
rs765641043
|
|
NM_015662.3(IFT172):c.2234A>T (p.Gln745Leu)
|
|
|
NM_015662.3(IFT172):c.2236T>G (p.Trp746Gly)
|
|
|
NM_015662.3(IFT172):c.2240T>C (p.Leu747Pro)
|
|
|
NM_015662.3(IFT172):c.2251C>T (p.Gln751Ter)
|
|
|
NM_015662.3(IFT172):c.2264G>C (p.Arg755Pro)
|
rs78631901
|
|
NM_015662.3(IFT172):c.2308A>C (p.Ile770Leu)
|
|
|
NM_015662.3(IFT172):c.2354T>C (p.Leu785Pro)
|
|
|
NM_015662.3(IFT172):c.2363C>A (p.Thr788Asn)
|
|
|
NM_015662.3(IFT172):c.2368G>A (p.Glu790Lys)
|
|
|
NM_015662.3(IFT172):c.2414C>A (p.Ala805Asp)
|
|
|
NM_015662.3(IFT172):c.2430A>C (p.Glu810Asp)
|
|
|
NM_015662.3(IFT172):c.2443-1G>C
|
|
|
NM_015662.3(IFT172):c.2447G>C (p.Gly816Ala)
|
|
|
NM_015662.3(IFT172):c.2456_2457del (p.Leu818_Phe819insTer)
|
|
|
NM_015662.3(IFT172):c.249A>G (p.Ile83Met)
|
|
|
NM_015662.3(IFT172):c.2515A>C (p.Met839Leu)
|
|
|
NM_015662.3(IFT172):c.2537G>T (p.Arg846Leu)
|
|
|
NM_015662.3(IFT172):c.2539T>A (p.Leu847Met)
|
|
|
NM_015662.3(IFT172):c.2549C>A (p.Pro850Gln)
|
|
|
NM_015662.3(IFT172):c.2584dup (p.Asp862fs)
|
|
|
NM_015662.3(IFT172):c.2629_2630dup (p.Ile878fs)
|
|
|
NM_015662.3(IFT172):c.2632A>G (p.Ile878Val)
|
rs1045778698
|
|
NM_015662.3(IFT172):c.2633T>C (p.Ile878Thr)
|
|
|
NM_015662.3(IFT172):c.2635G>A (p.Glu879Lys)
|
|
|
NM_015662.3(IFT172):c.2646C>A (p.Cys882Ter)
|
rs1309394469
|
|
NM_015662.3(IFT172):c.2672_2680del (p.Leu891_Ala893del)
|
rs1169567028
|
|
NM_015662.3(IFT172):c.2674G>C (p.Gly892Arg)
|
|
|
NM_015662.3(IFT172):c.269T>A (p.Ile90Asn)
|
|
|
NM_015662.3(IFT172):c.2725A>T (p.Asn909Tyr)
|
|
|
NM_015662.3(IFT172):c.272A>G (p.Tyr91Cys)
|
|
|
NM_015662.3(IFT172):c.2788-10T>A
|
|
|
NM_015662.3(IFT172):c.2839A>G (p.Met947Val)
|
rs774401568
|
|
NM_015662.3(IFT172):c.2864A>C (p.Glu955Ala)
|
|
|
NM_015662.3(IFT172):c.2900C>T (p.Pro967Leu)
|
|
|
NM_015662.3(IFT172):c.2915T>A (p.Val972Glu)
|
rs2148498608
|
|
NM_015662.3(IFT172):c.2962C>T (p.Arg988Cys)
|
|
|
NM_015662.3(IFT172):c.2968G>C (p.Ala990Pro)
|
|
|
NM_015662.3(IFT172):c.2969C>T (p.Ala990Val)
|
|
|
NM_015662.3(IFT172):c.2975+3G>A
|
|
|
NM_015662.3(IFT172):c.2976-2A>T
|
|
|
NM_015662.3(IFT172):c.2989G>A (p.Val997Ile)
|
|
|
NM_015662.3(IFT172):c.3001G>C (p.Asp1001His)
|
rs1666300541
|
|
NM_015662.3(IFT172):c.3031A>C (p.Lys1011Gln)
|
|
|
NM_015662.3(IFT172):c.303C>A (p.Asp101Glu)
|
|
|
NM_015662.3(IFT172):c.305A>C (p.Lys102Thr)
|
|
|
NM_015662.3(IFT172):c.3061G>A (p.Gly1021Arg)
|
|
|
NM_015662.3(IFT172):c.3079CTC[1] (p.Leu1028del)
|
|
|
NM_015662.3(IFT172):c.3111+1del
|
|
|
NM_015662.3(IFT172):c.3157C>G (p.Leu1053Val)
|
|
|
NM_015662.3(IFT172):c.3166C>G (p.Gln1056Glu)
|
rs1666272023
|
|
NM_015662.3(IFT172):c.3181A>G (p.Thr1061Ala)
|
rs550525758
|
|
NM_015662.3(IFT172):c.3218_3223delinsTACCTGA (p.Glu1073fs)
|
|
|
NM_015662.3(IFT172):c.3229-9G>T
|
|
|
NM_015662.3(IFT172):c.325T>C (p.Phe109Leu)
|
rs542128061
|
|
NM_015662.3(IFT172):c.3332G>A (p.Gly1111Glu)
|
|
|
NM_015662.3(IFT172):c.333G>T (p.Gln111His)
|
|
|
NM_015662.3(IFT172):c.3369T>C (p.Asn1123=)
|
|
|
NM_015662.3(IFT172):c.3401G>A (p.Arg1134Gln)
|
rs148624326
|
|
NM_015662.3(IFT172):c.3409C>G (p.Leu1137Val)
|
|
|
NM_015662.3(IFT172):c.3450G>A (p.Met1150Ile)
|
|
|
NM_015662.3(IFT172):c.3465G>C (p.Glu1155Asp)
|
rs935403723
|
|
NM_015662.3(IFT172):c.3465G>T (p.Glu1155Asp)
|
|
|
NM_015662.3(IFT172):c.3485A>T (p.Glu1162Val)
|
|
|
NM_015662.3(IFT172):c.3531-19T>C
|
|
|
NM_015662.3(IFT172):c.3559G>T (p.Ala1187Ser)
|
|
|
NM_015662.3(IFT172):c.3566G>C (p.Arg1189Pro)
|
|
|
NM_015662.3(IFT172):c.3582C>G (p.His1194Gln)
|
|
|
NM_015662.3(IFT172):c.3598G>A (p.Ala1200Thr)
|
rs377521375
|
|
NM_015662.3(IFT172):c.3598G>T (p.Ala1200Ser)
|
|
|
NM_015662.3(IFT172):c.3623G>C (p.Arg1208Pro)
|
rs758387302
|
|
NM_015662.3(IFT172):c.3632T>G (p.Leu1211Trp)
|
rs532669006
|
|
NM_015662.3(IFT172):c.3637G>A (p.Glu1213Lys)
|
|
|
NM_015662.3(IFT172):c.3663G>A (p.Gly1221=)
|
rs892273103
|
|
NM_015662.3(IFT172):c.3700A>C (p.Asn1234His)
|
rs746597294
|
|
NM_015662.3(IFT172):c.3712-3C>T
|
|
|
NM_015662.3(IFT172):c.3712-5A>G
|
|
|
NM_015662.3(IFT172):c.3712G>A (p.Glu1238Lys)
|
|
|
NM_015662.3(IFT172):c.3728G>T (p.Ser1243Ile)
|
rs145507269
|
|
NM_015662.3(IFT172):c.3761_3766del (p.Pro1254_Ser1255del)
|
rs763826196
|
|
NM_015662.3(IFT172):c.3808A>C (p.Lys1270Gln)
|
|
|
NM_015662.3(IFT172):c.3813G>T (p.Lys1271Asn)
|
|
|
NM_015662.3(IFT172):c.3814G>T (p.Gly1272Trp)
|
|
|
NM_015662.3(IFT172):c.3824G>T (p.Gly1275Val)
|
rs543062539
|
|
NM_015662.3(IFT172):c.3880del (p.Arg1294fs)
|
|
|
NM_015662.3(IFT172):c.404T>C (p.Val135Ala)
|
|
|
NM_015662.3(IFT172):c.4107C>T (p.Ile1369=)
|
rs747023555
|
|
NM_015662.3(IFT172):c.4116G>A (p.Glu1372=)
|
rs758268726
|
|
NM_015662.3(IFT172):c.4124A>G (p.Asn1375Ser)
|
|
|
NM_015662.3(IFT172):c.4136G>T (p.Arg1379Leu)
|
|
|
NM_015662.3(IFT172):c.4185T>G (p.His1395Gln)
|
rs148360112
|
|
NM_015662.3(IFT172):c.4223C>T (p.Ser1408Leu)
|
|
|
NM_015662.3(IFT172):c.4224+1G>A
|
|
|
NM_015662.3(IFT172):c.4262A>G (p.Tyr1421Cys)
|
|
|
NM_015662.3(IFT172):c.4280G>A (p.Trp1427Ter)
|
|
|
NM_015662.3(IFT172):c.4310A>G (p.Gln1437Arg)
|
|
|
NM_015662.3(IFT172):c.4387T>C (p.Leu1463=)
|
rs1455837031
|
|
NM_015662.3(IFT172):c.4462A>G (p.Met1488Val)
|
|
|
NM_015662.3(IFT172):c.4487G>T (p.Cys1496Phe)
|
rs149435148
|
|
NM_015662.3(IFT172):c.44G>T (p.Gly15Val)
|
rs1572838053
|
|
NM_015662.3(IFT172):c.4539+3G>C
|
|
|
NM_015662.3(IFT172):c.4540-11C>G
|
|
|
NM_015662.3(IFT172):c.455_462dup (p.Val155fs)
|
|
|
NM_015662.3(IFT172):c.4564G>C (p.Glu1522Gln)
|
|
|
NM_015662.3(IFT172):c.4593C>G (p.Phe1531Leu)
|
rs540171862
|
|
NM_015662.3(IFT172):c.461A>T (p.Tyr154Phe)
|
|
|
NM_015662.3(IFT172):c.4631G>A (p.Arg1544His)
|
|
|
NM_015662.3(IFT172):c.463G>A (p.Val155Met)
|
rs149969430
|
|
NM_015662.3(IFT172):c.4660-12C>G
|
|
|
NM_015662.3(IFT172):c.4688C>T (p.Ser1563Leu)
|
|
|
NM_015662.3(IFT172):c.470C>T (p.Ser157Phe)
|
|
|
NM_015662.3(IFT172):c.4789dup (p.Leu1597fs)
|
rs2148467517
|
|
NM_015662.3(IFT172):c.4812C>G (p.Thr1604=)
|
rs369400518
|
|
NM_015662.3(IFT172):c.482+3_482+6del
|
|
|
NM_015662.3(IFT172):c.4914+1G>A
|
|
|
NM_015662.3(IFT172):c.4914+2dup
|
|
|
NM_015662.3(IFT172):c.4915-14_4915-12del
|
|
|
NM_015662.3(IFT172):c.4925_4928del (p.Arg1642fs)
|
rs587777078
|
|
NM_015662.3(IFT172):c.4932_4940del (p.Glu1644_Arg1646del)
|
rs1664979213
|
|
NM_015662.3(IFT172):c.4934T>C (p.Val1645Ala)
|
|
|
NM_015662.3(IFT172):c.4960A>G (p.Met1654Val)
|
rs529850410
|
|
NM_015662.3(IFT172):c.4969C>T (p.Arg1657Trp)
|
|
|
NM_015662.3(IFT172):c.5008T>C (p.Tyr1670His)
|
|
|
NM_015662.3(IFT172):c.5020C>G (p.Leu1674Val)
|
|
|
NM_015662.3(IFT172):c.502C>A (p.Leu168Ile)
|
|
|
NM_015662.3(IFT172):c.5044C>T (p.Arg1682Ter)
|
rs1329856696
|
|
NM_015662.3(IFT172):c.509G>T (p.Gly170Val)
|
rs770113267
|
|
NM_015662.3(IFT172):c.5120C>T (p.Ala1707Val)
|
|
|
NM_015662.3(IFT172):c.5161-5C>G
|
|
|
NM_015662.3(IFT172):c.5195A>C (p.Lys1732Thr)
|
|
|
NM_015662.3(IFT172):c.5234G>T (p.Ser1745Ile)
|
|
|
NM_015662.3(IFT172):c.548A>T (p.Asp183Val)
|
|
|
NM_015662.3(IFT172):c.571-3T>C
|
|
|
NM_015662.3(IFT172):c.619A>G (p.Thr207Ala)
|
|
|
NM_015662.3(IFT172):c.706C>G (p.Arg236Gly)
|
rs146290725
|
|
NM_015662.3(IFT172):c.773G>A (p.Gly258Glu)
|
|
|
NM_015662.3(IFT172):c.786-14A>G
|
|
|
NM_015662.3(IFT172):c.786-18C>G
|
rs773491435
|
|
NM_015662.3(IFT172):c.786-2A>T
|
|
|
NM_015662.3(IFT172):c.791G>T (p.Arg264Leu)
|
|
|
NM_015662.3(IFT172):c.79A>G (p.Asn27Asp)
|
|
|
NM_015662.3(IFT172):c.83A>G (p.Asn28Ser)
|
|
|
NM_015662.3(IFT172):c.854A>G (p.Asn285Ser)
|
rs975683128
|
|
NM_015662.3(IFT172):c.85G>A (p.Ala29Thr)
|
|
|
NM_015662.3(IFT172):c.909+11A>G
|
|
|
NM_015662.3(IFT172):c.929T>C (p.Val310Ala)
|
|
|
NM_015662.3(IFT172):c.956G>A (p.Arg319Lys)
|
rs1002834084
|
|
NM_015662.3(IFT172):c.978dup (p.Glu327Ter)
|
|
|
NM_015662.3(IFT172):c.997C>T (p.Pro333Ser)
|
|
|
NM_015693.4(INTU):c.1450-9T>G
|
rs73847044
|
|
NM_015693.4(INTU):c.683-16G>C
|
rs56223823
|
|
NM_020779.4(WDR35):c.-15C>T
|
|
|
NM_020779.4(WDR35):c.1004A>G (p.Tyr335Cys)
|
|
|
NM_020779.4(WDR35):c.1028C>T (p.Thr343Ile)
|
|
|
NM_020779.4(WDR35):c.1109T>C (p.Val370Ala)
|
|
|
NM_020779.4(WDR35):c.1133C>G (p.Ser378Cys)
|
|
|
NM_020779.4(WDR35):c.1154T>G (p.Phe385Cys)
|
|
|
NM_020779.4(WDR35):c.1194+18T>G
|
|
|
NM_020779.4(WDR35):c.1204G>A (p.Val402Ile)
|
|
|
NM_020779.4(WDR35):c.1211G>C (p.Cys404Ser)
|
|
|
NM_020779.4(WDR35):c.1326A>G (p.Gln442=)
|
|
|
NM_020779.4(WDR35):c.1331G>A (p.Arg444His)
|
|
|
NM_020779.4(WDR35):c.1339A>G (p.Lys447Glu)
|
|
|
NM_020779.4(WDR35):c.1362del (p.Asn455fs)
|
rs772534528
|
|
NM_020779.4(WDR35):c.1400+16C>G
|
|
|
NM_020779.4(WDR35):c.140C>T (p.Thr47Ile)
|
|
|
NM_020779.4(WDR35):c.143-17GTTTT[2]
|
|
|
NM_020779.4(WDR35):c.1437G>A (p.Met479Ile)
|
|
|
NM_020779.4(WDR35):c.145G>T (p.Asp49Tyr)
|
|
|
NM_020779.4(WDR35):c.1507G>C (p.Asp503His)
|
|
|
NM_020779.4(WDR35):c.1520T>G (p.Ile507Ser)
|
|
|
NM_020779.4(WDR35):c.1528C>T (p.Arg510Cys)
|
rs1462353387
|
|
NM_020779.4(WDR35):c.1645A>G (p.Ile549Val)
|
|
|
NM_020779.4(WDR35):c.1650A>C (p.Ile550=)
|
|
|
NM_020779.4(WDR35):c.1651_1652insCAG (p.Ile550_Asp551insAla)
|
|
|
NM_020779.4(WDR35):c.1715A>G (p.Gln572Arg)
|
|
|
NM_020779.4(WDR35):c.1744C>T (p.Arg582Ter)
|
rs778613849
|
|
NM_020779.4(WDR35):c.1745G>A (p.Arg582Gln)
|
|
|
NM_020779.4(WDR35):c.1862C>A (p.Ser621Tyr)
|
|
|
NM_020779.4(WDR35):c.1901C>A (p.Ser634Tyr)
|
|
|
NM_020779.4(WDR35):c.1906C>A (p.Leu636Ile)
|
|
|
NM_020779.4(WDR35):c.1937A>G (p.His646Arg)
|
|
|
NM_020779.4(WDR35):c.1985A>G (p.Asp662Gly)
|
|
|
NM_020779.4(WDR35):c.1994C>T (p.Ala665Val)
|
|
|
NM_020779.4(WDR35):c.2045A>G (p.Asn682Ser)
|
|
|
NM_020779.4(WDR35):c.2064-3A>C
|
|
|
NM_020779.4(WDR35):c.208C>G (p.His70Asp)
|
|
|
NM_020779.4(WDR35):c.2129G>T (p.Arg710Leu)
|
rs370797645
|
|
NM_020779.4(WDR35):c.213T>A (p.Ser71Arg)
|
|
|
NM_020779.4(WDR35):c.2142_2152del (p.Tyr714_Lys718delinsTer)
|
|
|
NM_020779.4(WDR35):c.2175A>C (p.Lys725Asn)
|
|
|
NM_020779.4(WDR35):c.2198A>G (p.Gln733Arg)
|
|
|
NM_020779.4(WDR35):c.2221G>A (p.Gly741Ser)
|
|
|
NM_020779.4(WDR35):c.2287C>T (p.Arg763Trp)
|
|
|
NM_020779.4(WDR35):c.2320del (p.Gln774fs)
|
|
|
NM_020779.4(WDR35):c.2326C>G (p.Leu776Val)
|
|
|
NM_020779.4(WDR35):c.2345A>G (p.Asp782Gly)
|
|
|
NM_020779.4(WDR35):c.2350G>A (p.Asp784Asn)
|
|
|
NM_020779.4(WDR35):c.2383A>G (p.Ile795Val)
|
|
|
NM_020779.4(WDR35):c.24+2T>C
|
|
|
NM_020779.4(WDR35):c.2411A>T (p.Lys804Met)
|
|
|
NM_020779.4(WDR35):c.2421T>G (p.Asn807Lys)
|
|
|
NM_020779.4(WDR35):c.2425G>T (p.Val809Leu)
|
|
|
NM_020779.4(WDR35):c.2459G>A (p.Arg820His)
|
|
|
NM_020779.4(WDR35):c.2471G>A (p.Cys824Tyr)
|
|
|
NM_020779.4(WDR35):c.2479A>G (p.Met827Val)
|
|
|
NM_020779.4(WDR35):c.2488G>A (p.Asp830Asn)
|
|
|
NM_020779.4(WDR35):c.2509dup (p.Leu837fs)
|
|
|
NM_020779.4(WDR35):c.2513C>G (p.Ala838Gly)
|
|
|
NM_020779.4(WDR35):c.2547+8T>A
|
|
|
NM_020779.4(WDR35):c.2551A>G (p.Ile851Val)
|
|
|
NM_020779.4(WDR35):c.2576G>T (p.Gly859Val)
|
|
|
NM_020779.4(WDR35):c.2614A>C (p.Ser872Arg)
|
|
|
NM_020779.4(WDR35):c.2636A>G (p.Asp879Gly)
|
|
|
NM_020779.4(WDR35):c.2686A>G (p.Asn896Asp)
|
|
|
NM_020779.4(WDR35):c.2701G>C (p.Glu901Gln)
|
|
|
NM_020779.4(WDR35):c.2789A>G (p.Asn930Ser)
|
|
|
NM_020779.4(WDR35):c.2828C>T (p.Ala943Val)
|
|
|
NM_020779.4(WDR35):c.2844del (p.Gly950fs)
|
|
|
NM_020779.4(WDR35):c.2858del (p.Pro953fs)
|
rs397515334
|
|
NM_020779.4(WDR35):c.2875C>T (p.Leu959Phe)
|
|
|
NM_020779.4(WDR35):c.2918A>C (p.Gln973Pro)
|
|
|
NM_020779.4(WDR35):c.2964+17_2964+18delinsGG
|
|
|
NM_020779.4(WDR35):c.2965-16C>T
|
|
|
NM_020779.4(WDR35):c.2976del (p.Leu993fs)
|
rs1490771127
|
|
NM_020779.4(WDR35):c.3020G>A (p.Arg1007His)
|
|
|
NM_020779.4(WDR35):c.3022T>C (p.Phe1008Leu)
|
|
|
NM_020779.4(WDR35):c.307+20A>G
|
|
|
NM_020779.4(WDR35):c.308-18T>C
|
|
|
NM_020779.4(WDR35):c.308-1G>T
|
|
|
NM_020779.4(WDR35):c.3120A>G (p.Thr1040=)
|
|
|
NM_020779.4(WDR35):c.3122-11G>A
|
|
|
NM_020779.4(WDR35):c.3138C>G (p.Asp1046Glu)
|
|
|
NM_020779.4(WDR35):c.3157C>T (p.Pro1053Ser)
|
|
|
NM_020779.4(WDR35):c.324_325dup (p.Met109fs)
|
rs745486923
|
|
NM_020779.4(WDR35):c.3278A>G (p.Gln1093Arg)
|
|
|
NM_020779.4(WDR35):c.3289C>G (p.Leu1097Val)
|
|
|
NM_020779.4(WDR35):c.32T>G (p.Ile11Ser)
|
|
|
NM_020779.4(WDR35):c.3362+6C>T
|
|
|
NM_020779.4(WDR35):c.3363-2A>C
|
|
|
NM_020779.4(WDR35):c.3387C>T (p.Cys1129=)
|
|
|
NM_020779.4(WDR35):c.3434G>A (p.Ser1145Asn)
|
|
|
NM_020779.4(WDR35):c.3438A>G (p.Val1146=)
|
|
|
NM_020779.4(WDR35):c.3448G>A (p.Gly1150Ser)
|
|
|
NM_020779.4(WDR35):c.3449G>A (p.Gly1150Asp)
|
|
|
NM_020779.4(WDR35):c.3464A>C (p.Glu1155Ala)
|
rs1669900626
|
|
NM_020779.4(WDR35):c.356G>T (p.Arg119Leu)
|
|
|
NM_020779.4(WDR35):c.367T>C (p.Trp123Arg)
|
|
|
NM_020779.4(WDR35):c.419T>C (p.Ile140Thr)
|
|
|
NM_020779.4(WDR35):c.43G>C (p.Val15Leu)
|
|
|
NM_020779.4(WDR35):c.469A>G (p.Ile157Val)
|
|
|
NM_020779.4(WDR35):c.498G>A (p.Ala166=)
|
|
|
NM_020779.4(WDR35):c.535G>A (p.Glu179Lys)
|
|
|
NM_020779.4(WDR35):c.571-11A>G
|
|
|
NM_020779.4(WDR35):c.590G>A (p.Cys197Tyr)
|
|
|
NM_020779.4(WDR35):c.593T>C (p.Leu198Ser)
|
|
|
NM_020779.4(WDR35):c.595G>C (p.Val199Leu)
|
|
|
NM_020779.4(WDR35):c.5TCT[1] (p.Phe3del)
|
|
|
NM_020779.4(WDR35):c.641A>G (p.His214Arg)
|
|
|
NM_020779.4(WDR35):c.658G>A (p.Val220Met)
|
rs746602378
|
|
NM_020779.4(WDR35):c.721C>T (p.His241Tyr)
|
|
|
NM_020779.4(WDR35):c.737A>G (p.Asn246Ser)
|
|
|
NM_020779.4(WDR35):c.739C>A (p.Pro247Thr)
|
|
|
NM_020779.4(WDR35):c.752A>G (p.Asp251Gly)
|
|
|
NM_020779.4(WDR35):c.788A>G (p.His263Arg)
|
|
|
NM_020779.4(WDR35):c.829G>A (p.Ala277Thr)
|
|
|
NM_020779.4(WDR35):c.82T>A (p.Phe28Ile)
|
|
|
NM_020779.4(WDR35):c.872C>T (p.Pro291Leu)
|
|
|
NM_020779.4(WDR35):c.901G>T (p.Val301Phe)
|
|
|
NM_020779.4(WDR35):c.906del (p.Gly303fs)
|
|
|
NM_020779.4(WDR35):c.964G>A (p.Val322Ile)
|
|
|
NM_020800.3(IFT80):c.1067A>G (p.Tyr356Cys)
|
|
|
NM_020800.3(IFT80):c.1068C>T (p.Tyr356=)
|
|
|
NM_020800.3(IFT80):c.1076+6C>A
|
rs1478232526
|
|
NM_020800.3(IFT80):c.1095del (p.Pro366fs)
|
|
|
NM_020800.3(IFT80):c.1139T>A (p.Leu380Gln)
|
|
|
NM_020800.3(IFT80):c.1144G>A (p.Ala382Thr)
|
|
|
NM_020800.3(IFT80):c.1249C>A (p.Leu417Met)
|
|
|
NM_020800.3(IFT80):c.1283C>A (p.Thr428Asn)
|
rs770394750
|
|
NM_020800.3(IFT80):c.1319T>C (p.Ile440Thr)
|
|
|
NM_020800.3(IFT80):c.131C>A (p.Thr44Asn)
|
rs1712527833
|
|
NM_020800.3(IFT80):c.1333G>A (p.Ala445Thr)
|
|
|
NM_020800.3(IFT80):c.1343G>T (p.Gly448Val)
|
rs1715047540
|
|
NM_020800.3(IFT80):c.135T>A (p.Ser45Arg)
|
|
|
NM_020800.3(IFT80):c.135T>G (p.Ser45Arg)
|
rs762238566
|
|
NM_020800.3(IFT80):c.1380+1G>T
|
|
|
NM_020800.3(IFT80):c.1381-14dup
|
rs762163693
|
|
NM_020800.3(IFT80):c.1420A>G (p.Thr474Ala)
|
rs750126857
|
|
NM_020800.3(IFT80):c.1483C>T (p.Arg495Ter)
|
|
|
NM_020800.3(IFT80):c.1484G>A (p.Arg495Gln)
|
|
|
NM_020800.3(IFT80):c.1495G>A (p.Glu499Lys)
|
rs555093543
|
|
NM_020800.3(IFT80):c.1583G>T (p.Arg528Leu)
|
|
|
NM_020800.3(IFT80):c.1689T>A (p.Ile563=)
|
|
|
NM_020800.3(IFT80):c.1831G>C (p.Val611Leu)
|
|
|
NM_020800.3(IFT80):c.1837-6_1837-2del
|
rs780412409
|
|
NM_020800.3(IFT80):c.1889T>C (p.Met630Thr)
|
|
|
NM_020800.3(IFT80):c.1916C>T (p.Ala639Val)
|
|
|
NM_020800.3(IFT80):c.1918A>G (p.Ile640Val)
|
|
|
NM_020800.3(IFT80):c.1933A>G (p.Lys645Glu)
|
|
|
NM_020800.3(IFT80):c.1936G>T (p.Val646Phe)
|
rs752617502
|
|
NM_020800.3(IFT80):c.1961dup (p.Asn654fs)
|
|
|
NM_020800.3(IFT80):c.1994del (p.Ile665fs)
|
|
|
NM_020800.3(IFT80):c.199A>G (p.Lys67Glu)
|
|
|
NM_020800.3(IFT80):c.1A>G (p.Met1Val)
|
|
|
NM_020800.3(IFT80):c.2018A>G (p.Gln673Arg)
|
|
|
NM_020800.3(IFT80):c.203G>A (p.Ser68Asn)
|
|
|
NM_020800.3(IFT80):c.2217A>G (p.Ala739=)
|
|
|
NM_020800.3(IFT80):c.2302C>T (p.Gln768Ter)
|
rs778690591
|
|
NM_020800.3(IFT80):c.2313G>T (p.Lys771Asn)
|
|
|
NM_020800.3(IFT80):c.239_250delinsGGGTTT (p.Phe80_Ser84delinsTrpValCys)
|
rs1712517309
|
|
NM_020800.3(IFT80):c.248_249del (p.Thr83fs)
|
|
|
NM_020800.3(IFT80):c.24A>T (p.Leu8Phe)
|
|
|
NM_020800.3(IFT80):c.259+1G>T
|
|
|
NM_020800.3(IFT80):c.31C>T (p.Pro11Ser)
|
|
|
NM_020800.3(IFT80):c.328C>T (p.Leu110Phe)
|
|
|
NM_020800.3(IFT80):c.339A>G (p.Arg113=)
|
|
|
NM_020800.3(IFT80):c.35A>G (p.Lys12Arg)
|
|
|
NM_020800.3(IFT80):c.370+2T>G
|
|
|
NM_020800.3(IFT80):c.411dup (p.Met138fs)
|
rs778324141
|
|
NM_020800.3(IFT80):c.440-2A>G
|
rs1721846338
|
|
NM_020800.3(IFT80):c.521C>G (p.Pro174Arg)
|
|
|
NM_020800.3(IFT80):c.544_545dup (p.Leu182fs)
|
|
|
NM_020800.3(IFT80):c.549+4C>G
|
|
|
NM_020800.3(IFT80):c.550-3_550-2del
|
|
|
NM_020800.3(IFT80):c.563A>G (p.Asp188Gly)
|
|
|
NM_020800.3(IFT80):c.577A>G (p.Lys193Glu)
|
|
|
NM_020800.3(IFT80):c.593C>T (p.Ser198Leu)
|
|
|
NM_020800.3(IFT80):c.639G>A (p.Lys213=)
|
|
|
NM_020800.3(IFT80):c.64T>C (p.Trp22Arg)
|
rs140499147
|
|
NM_020800.3(IFT80):c.650G>A (p.Ser217Asn)
|
|
|
NM_020800.3(IFT80):c.679C>G (p.Pro227Ala)
|
|
|
NM_020800.3(IFT80):c.701C>G (p.Ser234Ter)
|
|
|
NM_020800.3(IFT80):c.755dup (p.Leu252fs)
|
|
|
NM_020800.3(IFT80):c.758G>T (p.Arg253Leu)
|
|
|
NM_020800.3(IFT80):c.823A>G (p.Ile275Val)
|
|
|
NM_020800.3(IFT80):c.919A>C (p.Asn307His)
|
|
|
NM_020800.3(IFT80):c.946A>G (p.Arg316Gly)
|
|
|
NM_020800.3(IFT80):c.958-1G>T
|
rs202051267
|
|
NM_024753.5(TTC21B):c.-82C>G
|
rs543599575
|
|
NM_024753.5(TTC21B):c.1002G>T (p.Met334Ile)
|
|
|
NM_024753.5(TTC21B):c.1017A>C (p.Arg339Ser)
|
|
|
NM_024753.5(TTC21B):c.1038G>A (p.Trp346Ter)
|
rs2105344578
|
|
NM_024753.5(TTC21B):c.1048G>T (p.Ala350Ser)
|
rs752711108
|
|
NM_024753.5(TTC21B):c.1088-1G>A
|
|
|
NM_024753.5(TTC21B):c.1088-7A>C
|
|
|
NM_024753.5(TTC21B):c.1088G>A (p.Gly363Glu)
|
|
|
NM_024753.5(TTC21B):c.1184C>T (p.Ala395Val)
|
|
|
NM_024753.5(TTC21B):c.1185+5A>G
|
rs2105343665
|
|
NM_024753.5(TTC21B):c.1185G>T (p.Ala395=)
|
|
|
NM_024753.5(TTC21B):c.1201C>T (p.His401Tyr)
|
|
|
NM_024753.5(TTC21B):c.1216A>G (p.Met406Val)
|
|
|
NM_024753.5(TTC21B):c.1231C>G (p.Arg411Gly)
|
rs185089786
|
|
NM_024753.5(TTC21B):c.1274C>G (p.Thr425Ser)
|
|
|
NM_024753.5(TTC21B):c.1320del (p.Phe440fs)
|
rs775836730
|
|
NM_024753.5(TTC21B):c.1379C>T (p.Pro460Leu)
|
|
|
NM_024753.5(TTC21B):c.1469G>A (p.Gly490Asp)
|
|
|
NM_024753.5(TTC21B):c.151+20C>T
|
|
|
NM_024753.5(TTC21B):c.1517-5A>T
|
|
|
NM_024753.5(TTC21B):c.1523T>C (p.Ile508Thr)
|
rs769248659
|
|
NM_024753.5(TTC21B):c.1565A>T (p.Asn522Ile)
|
|
|
NM_024753.5(TTC21B):c.1656_1659del (p.Leu551_Cys552insTer)
|
rs2105329247
|
|
NM_024753.5(TTC21B):c.1682A>G (p.Asp561Gly)
|
rs1354455514
|
|
NM_024753.5(TTC21B):c.1709C>T (p.Ala570Val)
|
rs1559058045
|
|
NM_024753.5(TTC21B):c.1713_1719delinsCAC (p.Gln571fs)
|
|
|
NM_024753.5(TTC21B):c.1736T>C (p.Ile579Thr)
|
|
|
NM_024753.5(TTC21B):c.1899+18T>G
|
|
|
NM_024753.5(TTC21B):c.1899G>A (p.Gln633=)
|
|
|
NM_024753.5(TTC21B):c.1954G>A (p.Glu652Lys)
|
|
|
NM_024753.5(TTC21B):c.2008A>G (p.Ile670Val)
|
|
|
NM_024753.5(TTC21B):c.202G>T (p.Asp68Tyr)
|
rs1242719645
|
|
NM_024753.5(TTC21B):c.21+6_21+7insGGTGAGCAGGTGAGCG
|
|
|
NM_024753.5(TTC21B):c.21+9_21+10insGAGCGGGC
|
|
|
NM_024753.5(TTC21B):c.2101C>G (p.His701Asp)
|
|
|
NM_024753.5(TTC21B):c.2128A>G (p.Thr710Ala)
|
rs1457311503
|
|
NM_024753.5(TTC21B):c.2135T>C (p.Phe712Ser)
|
|
|
NM_024753.5(TTC21B):c.2211+4A>G
|
|
|
NM_024753.5(TTC21B):c.2326A>G (p.Ile776Val)
|
|
|
NM_024753.5(TTC21B):c.2412G>T (p.Trp804Cys)
|
rs1685925745
|
|
NM_024753.5(TTC21B):c.2434C>A (p.Leu812Ile)
|
|
|
NM_024753.5(TTC21B):c.2449G>T (p.Ala817Ser)
|
|
|
NM_024753.5(TTC21B):c.2458_2461+7del
|
|
|
NM_024753.5(TTC21B):c.248T>A (p.Met83Lys)
|
|
|
NM_024753.5(TTC21B):c.2509C>G (p.Leu837Val)
|
|
|
NM_024753.5(TTC21B):c.2530A>G (p.Met844Val)
|
rs766811699
|
|
NM_024753.5(TTC21B):c.2533G>C (p.Glu845Gln)
|
|
|
NM_024753.5(TTC21B):c.2568+14T>A
|
|
|
NM_024753.5(TTC21B):c.2588G>A (p.Arg863Gln)
|
|
|
NM_024753.5(TTC21B):c.2590G>A (p.Val864Ile)
|
|
|
NM_024753.5(TTC21B):c.2599C>A (p.Arg867Ser)
|
|
|
NM_024753.5(TTC21B):c.264_267dupTAGA
|
rs748514860
|
|
NM_024753.5(TTC21B):c.2683G>A (p.Val895Ile)
|
|
|
NM_024753.5(TTC21B):c.270del (p.Ala91fs)
|
|
|
NM_024753.5(TTC21B):c.272C>G (p.Ala91Gly)
|
|
|
NM_024753.5(TTC21B):c.2774C>T (p.Ala925Val)
|
|
|
NM_024753.5(TTC21B):c.2777_2791del (p.Arg926_Ala930del)
|
rs757389950
|
|
NM_024753.5(TTC21B):c.2814_2815delinsAA (p.Leu938_Arg939=)
|
rs2105303218
|
|
NM_024753.5(TTC21B):c.2884A>T (p.Met962Leu)
|
rs1010771919
|
|
NM_024753.5(TTC21B):c.2951-1G>A
|
|
|
NM_024753.5(TTC21B):c.2975T>C (p.Leu992Ser)
|
rs995750441
|
|
NM_024753.5(TTC21B):c.301G>C (p.Glu101Gln)
|
|
|
NM_024753.5(TTC21B):c.3040A>G (p.Lys1014Glu)
|
|
|
NM_024753.5(TTC21B):c.3087del (p.Gly1030fs)
|
rs2105291970
|
|
NM_024753.5(TTC21B):c.3101+17A>G
|
|
|
NM_024753.5(TTC21B):c.310A>G (p.Lys104Glu)
|
|
|
NM_024753.5(TTC21B):c.311A>G (p.Lys104Arg)
|
|
|
NM_024753.5(TTC21B):c.3130C>T (p.Arg1044Ter)
|
|
|
NM_024753.5(TTC21B):c.3144A>T (p.Lys1048Asn)
|
|
|
NM_024753.5(TTC21B):c.3149G>A (p.Arg1050Gln)
|
rs144103331
|
|
NM_024753.5(TTC21B):c.3149G>C (p.Arg1050Pro)
|
|
|
NM_024753.5(TTC21B):c.3165G>C (p.Trp1055Cys)
|
|
|
NM_024753.5(TTC21B):c.3167G>A (p.Gly1056Asp)
|
|
|
NM_024753.5(TTC21B):c.3185A>G (p.Asn1062Ser)
|
|
|
NM_024753.5(TTC21B):c.3192A>G (p.Ile1064Met)
|
|
|
NM_024753.5(TTC21B):c.3264-13T>G
|
rs754946168
|
|
NM_024753.5(TTC21B):c.3340C>T (p.Gln1114Ter)
|
rs1685080096
|
|
NM_024753.5(TTC21B):c.3344C>T (p.Thr1115Ile)
|
|
|
NM_024753.5(TTC21B):c.3362A>G (p.Gln1121Arg)
|
|
|
NM_024753.5(TTC21B):c.3364C>T (p.Leu1122Phe)
|
|
|
NM_024753.5(TTC21B):c.3451G>A (p.Ala1151Thr)
|
|
|
NM_024753.5(TTC21B):c.3467A>G (p.His1156Arg)
|
|
|
NM_024753.5(TTC21B):c.3476C>A (p.Ala1159Glu)
|
|
|
NM_024753.5(TTC21B):c.3487A>G (p.Met1163Val)
|
|
|
NM_024753.5(TTC21B):c.3490G>A (p.Ala1164Thr)
|
rs374018043
|
|
NM_024753.5(TTC21B):c.354del (p.Leu118fs)
|
|
|
NM_024753.5(TTC21B):c.3562T>C (p.Trp1188Arg)
|
|
|
NM_024753.5(TTC21B):c.3665G>A (p.Arg1222Gln)
|
|
|
NM_024753.5(TTC21B):c.3683G>C (p.Arg1228Thr)
|
|
|
NM_024753.5(TTC21B):c.3713G>A (p.Gly1238Glu)
|
rs1294549037
|
|
NM_024753.5(TTC21B):c.3724del (p.Glu1242fs)
|
|
|
NM_024753.5(TTC21B):c.3769G>A (p.Ala1257Thr)
|
|
|
NM_024753.5(TTC21B):c.3782G>T (p.Ser1261Ile)
|
rs371730439
|
|
NM_024753.5(TTC21B):c.3799G>A (p.Ala1267Thr)
|
|
|
NM_024753.5(TTC21B):c.3808T>A (p.Tyr1270Asn)
|
|
|
NM_024753.5(TTC21B):c.3857T>C (p.Ile1286Thr)
|
|
|
NM_024753.5(TTC21B):c.3871C>T (p.Gln1291Ter)
|
|
|
NM_024753.5(TTC21B):c.3874-13_3874-10del
|
rs763460455
|
|
NM_024753.5(TTC21B):c.3890C>A (p.Pro1297Gln)
|
|
|
NM_024753.5(TTC21B):c.3892A>G (p.Thr1298Ala)
|
|
|
NM_024753.5(TTC21B):c.3909A>G (p.Arg1303=)
|
|
|
NM_024753.5(TTC21B):c.3917T>C (p.Ile1306Thr)
|
|
|
NM_024753.5(TTC21B):c.430G>A (p.Gly144Arg)
|
|
|
NM_024753.5(TTC21B):c.431del
|
|
|
NM_024753.5(TTC21B):c.436G>A (p.Val146Ile)
|
rs373074238
|
|
NM_024753.5(TTC21B):c.436G>C (p.Val146Leu)
|
|
|
NM_024753.5(TTC21B):c.512G>C (p.Gly171Ala)
|
|
|
NM_024753.5(TTC21B):c.52T>G (p.Tyr18Asp)
|
|
|
NM_024753.5(TTC21B):c.553-13del
|
rs749999474
|
|
NM_024753.5(TTC21B):c.553-3T>C
|
|
|
NM_024753.5(TTC21B):c.607C>T (p.Gln203Ter)
|
|
|
NM_024753.5(TTC21B):c.634C>T (p.Leu212Phe)
|
|
|
NM_024753.5(TTC21B):c.65T>C (p.Val22Ala)
|
|
|
NM_024753.5(TTC21B):c.671C>T (p.Ala224Val)
|
|
|
NM_024753.5(TTC21B):c.677A>C (p.Gln226Pro)
|
|
|
NM_024753.5(TTC21B):c.778G>T (p.Glu260Ter)
|
|
|
NM_024753.5(TTC21B):c.863T>C (p.Phe288Ser)
|
|
|
NM_024753.5(TTC21B):c.864C>A (p.Phe288Leu)
|
rs776784928
|
|
NM_024753.5(TTC21B):c.901C>T (p.Arg301Cys)
|
rs1437304335
|
|
NM_024753.5(TTC21B):c.910C>G (p.Leu304Val)
|
|
|
NM_024753.5(TTC21B):c.924A>C (p.Lys308Asn)
|
|
|
NM_024753.5(TTC21B):c.928C>T (p.Gln310Ter)
|
|
|
NM_024753.5(TTC21B):c.932C>T (p.Thr311Met)
|
|
|
NM_024753.5(TTC21B):c.940G>A (p.Glu314Lys)
|
|
|
NM_024753.5(TTC21B):c.986A>T (p.Glu329Val)
|
rs746459698
|
|
NM_025132.4(WDR19):c.1134+1G>A
|
|
|
NM_025132.4(WDR19):c.1135-2A>G
|
|
|
NM_025132.4(WDR19):c.1148_1149del (p.Thr383fs)
|
|
|
NM_025132.4(WDR19):c.1174T>G (p.Phe392Val)
|
|
|
NM_025132.4(WDR19):c.1217A>G (p.Asn406Ser)
|
|
|
NM_025132.4(WDR19):c.1234G>A (p.Val412Ile)
|
rs1729054259
|
|
NM_025132.4(WDR19):c.1314C>G (p.Asp438Glu)
|
|
|
NM_025132.4(WDR19):c.1366G>A (p.Glu456Lys)
|
rs539621646
|
|
NM_025132.4(WDR19):c.1379C>T (p.Ala460Val)
|
|
|
NM_025132.4(WDR19):c.137A>G (p.Gln46Arg)
|
|
|
NM_025132.4(WDR19):c.1388A>G (p.Glu463Gly)
|
|
|
NM_025132.4(WDR19):c.1400G>A (p.Arg467Gln)
|
|
|
NM_025132.4(WDR19):c.1417G>A (p.Asp473Asn)
|
|
|
NM_025132.4(WDR19):c.142A>G (p.Arg48Gly)
|
|
|
NM_025132.4(WDR19):c.143G>T (p.Arg48Ile)
|
|
|
NM_025132.4(WDR19):c.1462C>T (p.Leu488Phe)
|
rs1560503998
|
|
NM_025132.4(WDR19):c.1472G>A (p.Gly491Asp)
|
|
|
NM_025132.4(WDR19):c.1479T>C (p.Asp493=)
|
rs1207013785
|
|
NM_025132.4(WDR19):c.1502A>G (p.Tyr501Cys)
|
|
|
NM_025132.4(WDR19):c.1576G>A (p.Gly526Arg)
|
rs1335665760
|
|
NM_025132.4(WDR19):c.1582_1585dup (p.Leu529Ter)
|
|
|
NM_025132.4(WDR19):c.165T>G (p.Gly55=)
|
|
|
NM_025132.4(WDR19):c.1673T>C (p.Ile558Thr)
|
rs1730480639
|
|
NM_025132.4(WDR19):c.1768A>G (p.Thr590Ala)
|
|
|
NM_025132.4(WDR19):c.1775A>T (p.Gln592Leu)
|
rs190192706
|
|
NM_025132.4(WDR19):c.1791T>C (p.Ile597=)
|
rs2109358310
|
|
NM_025132.4(WDR19):c.180G>A (p.Met60Ile)
|
|
|
NM_025132.4(WDR19):c.1833G>C (p.Leu611Phe)
|
|
|
NM_025132.4(WDR19):c.186G>A (p.Trp62Ter)
|
|
|
NM_025132.4(WDR19):c.194A>G (p.Asp65Gly)
|
|
|
NM_025132.4(WDR19):c.1994C>A (p.Ala665Asp)
|
|
|
NM_025132.4(WDR19):c.1994C>T (p.Ala665Val)
|
|
|
NM_025132.4(WDR19):c.2004G>A (p.Met668Ile)
|
|
|
NM_025132.4(WDR19):c.2051C>G (p.Ala684Gly)
|
|
|
NM_025132.4(WDR19):c.2059C>T (p.His687Tyr)
|
rs1577943727
|
|
NM_025132.4(WDR19):c.2138_2139del (p.Ile713fs)
|
|
|
NM_025132.4(WDR19):c.2149G>C (p.Glu717Gln)
|
|
|
NM_025132.4(WDR19):c.2196T>G (p.Asp732Glu)
|
|
|
NM_025132.4(WDR19):c.2233T>G (p.Cys745Gly)
|
|
|
NM_025132.4(WDR19):c.2285C>T (p.Ala762Val)
|
|
|
NM_025132.4(WDR19):c.2320A>T (p.Ile774Leu)
|
rs762043395
|
|
NM_025132.4(WDR19):c.2341T>C (p.Tyr781His)
|
|
|
NM_025132.4(WDR19):c.235A>G (p.Ile79Val)
|
|
|
NM_025132.4(WDR19):c.2364-13_2364-9del
|
|
|
NM_025132.4(WDR19):c.2364-2del
|
|
|
NM_025132.4(WDR19):c.2364-4del
|
rs750106753
|
|
NM_025132.4(WDR19):c.2388_2392dup (p.Tyr798fs)
|
|
|
NM_025132.4(WDR19):c.2421+5C>A
|
rs563302411
|
|
NM_025132.4(WDR19):c.2421+5C>T
|
|
|
NM_025132.4(WDR19):c.2429A>G (p.Asp810Gly)
|
rs886059400
|
|
NM_025132.4(WDR19):c.2485C>T (p.Arg829Ter)
|
rs775181779
|
|
NM_025132.4(WDR19):c.2491del (p.Val831fs)
|
|
|
NM_025132.4(WDR19):c.2519G>A (p.Arg840Lys)
|
|
|
NM_025132.4(WDR19):c.2528A>G (p.Lys843Arg)
|
|
|
NM_025132.4(WDR19):c.2558T>C (p.Met853Thr)
|
|
|
NM_025132.4(WDR19):c.257C>A (p.Thr86Lys)
|
|
|
NM_025132.4(WDR19):c.2599C>G (p.Leu867Val)
|
|
|
NM_025132.4(WDR19):c.2601_2602dup (p.Tyr868fs)
|
rs1421636172
|
|
NM_025132.4(WDR19):c.2646-16G>T
|
rs750485530
|
|
NM_025132.4(WDR19):c.2653G>A (p.Val885Ile)
|
|
|
NM_025132.4(WDR19):c.2691C>G (p.Ile897Met)
|
|
|
NM_025132.4(WDR19):c.2716del (p.Glu906fs)
|
|
|
NM_025132.4(WDR19):c.2730-1G>A
|
|
|
NM_025132.4(WDR19):c.2746G>A (p.Val916Ile)
|
|
|
NM_025132.4(WDR19):c.2777G>T (p.Ser926Ile)
|
rs751386429
|
|
NM_025132.4(WDR19):c.2828A>G (p.Asn943Ser)
|
rs778487491
|
|
NM_025132.4(WDR19):c.2845C>T (p.Gln949Ter)
|
|
|
NM_025132.4(WDR19):c.2858G>C (p.Gly953Ala)
|
|
|
NM_025132.4(WDR19):c.2873C>T (p.Ala958Val)
|
|
|
NM_025132.4(WDR19):c.2876+10T>A
|
rs773692164
|
|
NM_025132.4(WDR19):c.2877-13T>C
|
|
|
NM_025132.4(WDR19):c.291-2A>G
|
|
|
NM_025132.4(WDR19):c.2944G>A (p.Glu982Lys)
|
|
|
NM_025132.4(WDR19):c.2987A>G (p.Tyr996Cys)
|
|
|
NM_025132.4(WDR19):c.302C>A (p.Ser101Tyr)
|
rs1381726098
|
|
NM_025132.4(WDR19):c.3068_3069del (p.Tyr1023fs)
|
|
|
NM_025132.4(WDR19):c.3084del (p.Lys1028fs)
|
|
|
NM_025132.4(WDR19):c.3184-12C>A
|
|
|
NM_025132.4(WDR19):c.3184-2A>C
|
rs1020915921
|
|
NM_025132.4(WDR19):c.3193G>A (p.Ala1065Thr)
|
|
|
NM_025132.4(WDR19):c.3319C>T (p.Gln1107Ter)
|
rs1401145684
|
|
NM_025132.4(WDR19):c.3359G>T (p.Gly1120Val)
|
|
|
NM_025132.4(WDR19):c.3436G>T (p.Glu1146Ter)
|
|
|
NM_025132.4(WDR19):c.3439A>G (p.Met1147Val)
|
rs886059401
|
|
NM_025132.4(WDR19):c.3483+19C>G
|
|
|
NM_025132.4(WDR19):c.3520C>T (p.Arg1174Cys)
|
|
|
NM_025132.4(WDR19):c.3521G>T (p.Arg1174Leu)
|
rs372719724
|
|
NM_025132.4(WDR19):c.3547A>T (p.Ile1183Phe)
|
|
|
NM_025132.4(WDR19):c.3548T>C (p.Ile1183Thr)
|
|
|
NM_025132.4(WDR19):c.355G>T (p.Gly119Ter)
|
|
|
NM_025132.4(WDR19):c.3566-6T>A
|
|
|
NM_025132.4(WDR19):c.3655A>G (p.Arg1219Gly)
|
|
|
NM_025132.4(WDR19):c.3659C>T (p.Pro1220Leu)
|
rs1735748675
|
|
NM_025132.4(WDR19):c.3716+1G>A
|
rs1191056931
|
|
NM_025132.4(WDR19):c.3723del (p.Asp1242fs)
|
|
|
NM_025132.4(WDR19):c.373A>C (p.Asn125His)
|
|
|
NM_025132.4(WDR19):c.377A>G (p.His126Arg)
|
|
|
NM_025132.4(WDR19):c.3784G>A (p.Glu1262Lys)
|
rs1553919125
|
|
NM_025132.4(WDR19):c.3798dup (p.Cys1267fs)
|
|
|
NM_025132.4(WDR19):c.3917+6T>C
|
|
|
NM_025132.4(WDR19):c.3951T>C (p.Cys1317=)
|
rs564992065
|
|
NM_025132.4(WDR19):c.4009C>G (p.Arg1337Gly)
|
rs367721770
|
|
NM_025132.4(WDR19):c.4025T>C (p.Leu1342Pro)
|
|
|
NM_025132.4(WDR19):c.406+1G>T
|
|
|
NM_025132.4(WDR19):c.40G>A (p.Gly14Ser)
|
|
|
NM_025132.4(WDR19):c.415A>G (p.Thr139Ala)
|
|
|
NM_025132.4(WDR19):c.416C>A (p.Thr139Asn)
|
|
|
NM_025132.4(WDR19):c.467G>T (p.Gly156Val)
|
|
|
NM_025132.4(WDR19):c.513G>T (p.Thr171=)
|
rs754543019
|
|
NM_025132.4(WDR19):c.523-1G>C
|
|
|
NM_025132.4(WDR19):c.6+6_6+8del
|
rs748952637
|
|
NM_025132.4(WDR19):c.619G>A (p.Gly207Ser)
|
|
|
NM_025132.4(WDR19):c.632T>C (p.Leu211Ser)
|
|
|
NM_025132.4(WDR19):c.641dup (p.Leu214fs)
|
rs587777348
|
|
NM_025132.4(WDR19):c.670G>C (p.Asp224His)
|
|
|
NM_025132.4(WDR19):c.717-1G>A
|
|
|
NM_025132.4(WDR19):c.814C>T (p.Arg272Cys)
|
rs199812132
|
|
NM_025132.4(WDR19):c.821A>G (p.His274Arg)
|
|
|
NM_025132.4(WDR19):c.845C>A (p.Ala282Glu)
|
|
|
NM_025132.4(WDR19):c.952G>A (p.Glu318Lys)
|
|
|
NM_025132.4(WDR19):c.956A>G (p.Asn319Ser)
|
rs1728875659
|
|
NM_025132.4(WDR19):c.961+2T>C
|
rs1728876351
|
|
NM_025132.4(WDR19):c.98+1G>A
|
|
|
NM_052844.4(DYNC2I2):c.1312_1313del (p.Leu438fs)
|
rs753802842
|
|
NM_052989.3(IFT122):c.-12A>G
|
|
|
NM_052989.3(IFT122):c.1027G>A (p.Gly343Ser)
|
|
|
NM_052989.3(IFT122):c.1028G>T (p.Gly343Val)
|
|
|
NM_052989.3(IFT122):c.1091C>T (p.Ala364Val)
|
|
|
NM_052989.3(IFT122):c.113A>G (p.Tyr38Cys)
|
|
|
NM_052989.3(IFT122):c.1174A>G (p.Lys392Glu)
|
|
|
NM_052989.3(IFT122):c.1199G>A (p.Arg400Gln)
|
rs1405512091
|
|
NM_052989.3(IFT122):c.1220A>G (p.Glu407Gly)
|
|
|
NM_052989.3(IFT122):c.1247C>A (p.Ser416Ter)
|
|
|
NM_052989.3(IFT122):c.124G>T (p.Asp42Tyr)
|
|
|
NM_052989.3(IFT122):c.1279A>T (p.Lys427Ter)
|
|
|
NM_052989.3(IFT122):c.1310A>T (p.Asn437Ile)
|
|
|
NM_052989.3(IFT122):c.1331A>G (p.Asn444Ser)
|
|
|
NM_052989.3(IFT122):c.1351-13G>A
|
|
|
NM_052989.3(IFT122):c.137T>G (p.Leu46Arg)
|
|
|
NM_052989.3(IFT122):c.1394G>A (p.Arg465Gln)
|
|
|
NM_052989.3(IFT122):c.1447C>G (p.Pro483Ala)
|
|
|
NM_052989.3(IFT122):c.1471G>C (p.Gly491Arg)
|
|
|
NM_052989.3(IFT122):c.1488+16C>T
|
|
|
NM_052989.3(IFT122):c.1564A>G (p.Met522Val)
|
|
|
NM_052989.3(IFT122):c.1591G>A (p.Val531Met)
|
|
|
NM_052989.3(IFT122):c.1610C>T (p.Thr537Ile)
|
|
|
NM_052989.3(IFT122):c.1651C>A (p.Gln551Lys)
|
|
|
NM_052989.3(IFT122):c.1653+3G>A
|
|
|
NM_052989.3(IFT122):c.1669A>G (p.Ser557Gly)
|
|
|
NM_052989.3(IFT122):c.1713G>A (p.Ser571=)
|
|
|
NM_052989.3(IFT122):c.1773G>C (p.Gln591His)
|
|
|
NM_052989.3(IFT122):c.1783_1784del (p.Val595fs)
|
|
|
NM_052989.3(IFT122):c.1800del (p.Lys601fs)
|
|
|
NM_052989.3(IFT122):c.1835C>T (p.Ala612Val)
|
|
|
NM_052989.3(IFT122):c.1837G>A (p.Val613Met)
|
|
|
NM_052989.3(IFT122):c.1851+3A>G
|
|
|
NM_052989.3(IFT122):c.1852-8T>C
|
|
|
NM_052989.3(IFT122):c.1853C>T (p.Ser618Phe)
|
|
|
NM_052989.3(IFT122):c.1858C>G (p.Pro620Ala)
|
|
|
NM_052989.3(IFT122):c.1878T>G (p.Asp626Glu)
|
|
|
NM_052989.3(IFT122):c.1884A>T (p.Lys628Asn)
|
rs777051654
|
|
NM_052989.3(IFT122):c.1910_1929delinsGCGTG (p.Ala637_Asp643delinsGlyVal)
|
|
|
NM_052989.3(IFT122):c.1936T>C (p.Trp646Arg)
|
|
|
NM_052989.3(IFT122):c.194-8_194-7del
|
|
|
NM_052989.3(IFT122):c.1964_1966del (p.Glu655del)
|
|
|
NM_052989.3(IFT122):c.1992G>A (p.Lys664=)
|
|
|
NM_052989.3(IFT122):c.2036_2037delinsAA (p.Ser679Lys)
|
|
|
NM_052989.3(IFT122):c.2051G>A (p.Arg684Lys)
|
|
|
NM_052989.3(IFT122):c.2053A>C (p.Lys685Gln)
|
|
|
NM_052989.3(IFT122):c.2059C>T (p.Arg687Trp)
|
|
|
NM_052989.3(IFT122):c.2074A>G (p.Asn692Asp)
|
|
|
NM_052989.3(IFT122):c.2079C>T (p.Asp693=)
|
|
|
NM_052989.3(IFT122):c.20G>C (p.Trp7Ser)
|
|
|
NM_052989.3(IFT122):c.211G>A (p.Gly71Arg)
|
|
|
NM_052989.3(IFT122):c.2164G>A (p.Ala722Thr)
|
|
|
NM_052989.3(IFT122):c.2165C>T (p.Ala722Val)
|
rs143662777
|
|
NM_052989.3(IFT122):c.2182G>A (p.Asp728Asn)
|
|
|
NM_052989.3(IFT122):c.2191A>C (p.Met731Leu)
|
|
|
NM_052989.3(IFT122):c.2197G>C (p.Glu733Gln)
|
|
|
NM_052989.3(IFT122):c.2285A>G (p.Lys762Arg)
|
|
|
NM_052989.3(IFT122):c.2285del (p.Lys762fs)
|
rs2081339145
|
|
NM_052989.3(IFT122):c.2297_2299delinsTCA (p.Ala766_Ala767delinsValThr)
|
|
|
NM_052989.3(IFT122):c.22A>T (p.Arg8Ter)
|
|
|
NM_052989.3(IFT122):c.2306A>G (p.Glu769Gly)
|
|
|
NM_052989.3(IFT122):c.2312A>G (p.Tyr771Cys)
|
|
|
NM_052989.3(IFT122):c.2313C>A (p.Tyr771Ter)
|
|
|
NM_052989.3(IFT122):c.2368G>A (p.Val790Ile)
|
|
|
NM_052989.3(IFT122):c.240G>A (p.Trp80Ter)
|
|
|
NM_052989.3(IFT122):c.2414G>A (p.Arg805His)
|
|
|
NM_052989.3(IFT122):c.2428C>G (p.Leu810Val)
|
|
|
NM_052989.3(IFT122):c.2434G>A (p.Ala812Thr)
|
|
|
NM_052989.3(IFT122):c.2441A>C (p.Tyr814Ser)
|
|
|
NM_052989.3(IFT122):c.2455G>C (p.Asp819His)
|
|
|
NM_052989.3(IFT122):c.2500C>T (p.Leu834Phe)
|
|
|
NM_052989.3(IFT122):c.2501T>C (p.Leu834Pro)
|
|
|
NM_052989.3(IFT122):c.2537G>A (p.Arg846His)
|
rs370415289
|
|
NM_052989.3(IFT122):c.2537G>T (p.Arg846Leu)
|
|
|
NM_052989.3(IFT122):c.2547G>A (p.Glu849=)
|
|
|
NM_052989.3(IFT122):c.2559G>A (p.Leu853=)
|
|
|
NM_052989.3(IFT122):c.2569C>G (p.His857Asp)
|
|
|
NM_052989.3(IFT122):c.257G>A (p.Gly86Asp)
|
|
|
NM_052989.3(IFT122):c.25_26del (p.Arg8_Asp9insTer)
|
|
|
NM_052989.3(IFT122):c.2630G>A (p.Arg877His)
|
rs561698295
|
|
NM_052989.3(IFT122):c.2645A>G (p.Gln882Arg)
|
|
|
NM_052989.3(IFT122):c.2650+1G>A
|
|
|
NM_052989.3(IFT122):c.2663C>A (p.Ala888Asp)
|
|
|
NM_052989.3(IFT122):c.2669G>A (p.Arg890Gln)
|
|
|
NM_052989.3(IFT122):c.2708_2711del (p.Asn903fs)
|
|
|
NM_052989.3(IFT122):c.2716G>A (p.Val906Met)
|
|
|
NM_052989.3(IFT122):c.272+1G>C
|
|
|
NM_052989.3(IFT122):c.2727C>T (p.Ser909=)
|
|
|
NM_052989.3(IFT122):c.272C>T (p.Thr91Met)
|
|
|
NM_052989.3(IFT122):c.273-263T>G
|
|
|
NM_052989.3(IFT122):c.273-274G>A
|
|
|
NM_052989.3(IFT122):c.273-281_273-271del
|
rs1559868433
|
|
NM_052989.3(IFT122):c.273-283A>G
|
|
|
NM_052989.3(IFT122):c.273-313G>C
|
|
|
NM_052989.3(IFT122):c.273-339_273-337del
|
|
|
NM_052989.3(IFT122):c.273-342A>G
|
|
|
NM_052989.3(IFT122):c.273-357C>G
|
|
|
NM_052989.3(IFT122):c.2780A>T (p.Asp927Val)
|
|
|
NM_052989.3(IFT122):c.278A>G (p.Asn93Ser)
|
|
|
NM_052989.3(IFT122):c.2792-14G>A
|
|
|
NM_052989.3(IFT122):c.2792-5A>T
|
|
|
NM_052989.3(IFT122):c.2803_2805del (p.Lys935del)
|
rs746556063
|
|
NM_052989.3(IFT122):c.2807A>C (p.Asp936Ala)
|
|
|
NM_052989.3(IFT122):c.2812A>G (p.Met938Val)
|
|
|
NM_052989.3(IFT122):c.2839C>T (p.Arg947Cys)
|
|
|
NM_052989.3(IFT122):c.2866C>T (p.His956Tyr)
|
|
|
NM_052989.3(IFT122):c.2885C>A (p.Thr962Lys)
|
|
|
NM_052989.3(IFT122):c.2885C>T (p.Thr962Met)
|
|
|
NM_052989.3(IFT122):c.2888A>G (p.Glu963Gly)
|
|
|
NM_052989.3(IFT122):c.2894C>T (p.Pro965Leu)
|
|
|
NM_052989.3(IFT122):c.2899A>G (p.Ser967Gly)
|
|
|
NM_052989.3(IFT122):c.2909G>T (p.Arg970Leu)
|
|
|
NM_052989.3(IFT122):c.2921T>C (p.Leu974Pro)
|
|
|
NM_052989.3(IFT122):c.2956C>T (p.Pro986Ser)
|
|
|
NM_052989.3(IFT122):c.2999T>A (p.Phe1000Tyr)
|
|
|
NM_052989.3(IFT122):c.299C>T (p.Ser100Phe)
|
|
|
NM_052989.3(IFT122):c.3028G>A (p.Gly1010Ser)
|
|
|
NM_052989.3(IFT122):c.3055T>C (p.Tyr1019His)
|
|
|
NM_052989.3(IFT122):c.3079A>C (p.Ile1027Leu)
|
|
|
NM_052989.3(IFT122):c.3098del (p.Lys1033fs)
|
|
|
NM_052989.3(IFT122):c.3127C>T (p.Arg1043Cys)
|
rs555281580
|
|
NM_052989.3(IFT122):c.3153+16C>T
|
|
|
NM_052989.3(IFT122):c.3154-17C>A
|
|
|
NM_052989.3(IFT122):c.3175C>T (p.Arg1059Cys)
|
|
|
NM_052989.3(IFT122):c.3176G>A (p.Arg1059His)
|
|
|
NM_052989.3(IFT122):c.3213C>T (p.Gly1071=)
|
|
|
NM_052989.3(IFT122):c.3233G>A (p.Arg1078His)
|
|
|
NM_052989.3(IFT122):c.3249C>A (p.Phe1083Leu)
|
|
|
NM_052989.3(IFT122):c.3265+1G>A
|
|
|
NM_052989.3(IFT122):c.3278T>G (p.Leu1093Arg)
|
|
|
NM_052989.3(IFT122):c.329C>G (p.Ser110Cys)
|
|
|
NM_052989.3(IFT122):c.3301G>A (p.Gly1101Arg)
|
|
|
NM_052989.3(IFT122):c.3302G>C (p.Gly1101Ala)
|
|
|
NM_052989.3(IFT122):c.3307A>G (p.Thr1103Ala)
|
|
|
NM_052989.3(IFT122):c.3358C>T (p.Arg1120Trp)
|
|
|
NM_052989.3(IFT122):c.3373C>G (p.Leu1125Val)
|
|
|
NM_052989.3(IFT122):c.3391+1G>A
|
|
|
NM_052989.3(IFT122):c.3391+7A>T
|
|
|
NM_052989.3(IFT122):c.3407G>A (p.Arg1136Gln)
|
|
|
NM_052989.3(IFT122):c.3429dup (p.Ile1144fs)
|
|
|
NM_052989.3(IFT122):c.3450C>T (p.Phe1150=)
|
|
|
NM_052989.3(IFT122):c.3471+9G>A
|
|
|
NM_052989.3(IFT122):c.3472-5T>A
|
|
|
NM_052989.3(IFT122):c.3489C>G (p.Phe1163Leu)
|
|
|
NM_052989.3(IFT122):c.350-5dup
|
|
|
NM_052989.3(IFT122):c.3506G>C (p.Ser1169Thr)
|
|
|
NM_052989.3(IFT122):c.3508C>T (p.Arg1170Trp)
|
|
|
NM_052989.3(IFT122):c.3520C>T (p.Arg1174Cys)
|
|
|
NM_052989.3(IFT122):c.356G>A (p.Trp119Ter)
|
|
|
NM_052989.3(IFT122):c.3586C>G (p.Arg1196Gly)
|
|
|
NM_052989.3(IFT122):c.3586C>T (p.Arg1196Cys)
|
rs201590142
|
|
NM_052989.3(IFT122):c.3616_3636+5del
|
|
|
NM_052989.3(IFT122):c.3623C>T (p.Pro1208Leu)
|
|
|
NM_052989.3(IFT122):c.3628T>G (p.Cys1210Gly)
|
|
|
NM_052989.3(IFT122):c.3656A>G (p.Tyr1219Cys)
|
|
|
NM_052989.3(IFT122):c.3664C>T (p.Leu1222=)
|
|
|
NM_052989.3(IFT122):c.3676C>G (p.His1226Asp)
|
|
|
NM_052989.3(IFT122):c.3679G>T (p.Gly1227Cys)
|
|
|
NM_052989.3(IFT122):c.3692A>C (p.Tyr1231Ser)
|
|
|
NM_052989.3(IFT122):c.3709G>A (p.Asp1237Asn)
|
|
|
NM_052989.3(IFT122):c.416+5G>A
|
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|
NM_052989.3(IFT122):c.428A>G (p.Asp143Gly)
|
|
|
NM_052989.3(IFT122):c.456C>G (p.Phe152Leu)
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|
NM_052989.3(IFT122):c.458A>G (p.Asn153Ser)
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|
NM_052989.3(IFT122):c.476G>A (p.Arg159Gln)
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|
NM_052989.3(IFT122):c.489C>T (p.Gly163=)
|
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|
NM_052989.3(IFT122):c.497A>G (p.Lys166Arg)
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NM_052989.3(IFT122):c.503A>G (p.Lys168Arg)
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|
NM_052989.3(IFT122):c.515_516insA (p.Ser175fs)
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|
NM_052989.3(IFT122):c.52A>G (p.Ile18Val)
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|
NM_052989.3(IFT122):c.555C>T (p.Asn185=)
|
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|
NM_052989.3(IFT122):c.564-2A>G
|
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|
NM_052989.3(IFT122):c.564-3C>T
|
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NM_052989.3(IFT122):c.564-7T>A
|
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|
NM_052989.3(IFT122):c.567A>G (p.Arg189=)
|
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|
NM_052989.3(IFT122):c.579C>G (p.Phe193Leu)
|
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|
NM_052989.3(IFT122):c.592_595del (p.Glu198fs)
|
|
|
NM_052989.3(IFT122):c.682A>G (p.Ser228Gly)
|
|
|
NM_052989.3(IFT122):c.688G>A (p.Ala230Thr)
|
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|
NM_052989.3(IFT122):c.722G>T (p.Ser241Ile)
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|
NM_052989.3(IFT122):c.740+6T>A
|
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|
NM_052989.3(IFT122):c.741del (p.Glu248fs)
|
|
|
NM_052989.3(IFT122):c.784A>G (p.Lys262Glu)
|
|
|
NM_052989.3(IFT122):c.788T>C (p.Val263Ala)
|
|
|
NM_052989.3(IFT122):c.791C>T (p.Ser264Phe)
|
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|
NM_052989.3(IFT122):c.797A>G (p.Tyr266Cys)
|
|
|
NM_052989.3(IFT122):c.816+17A>G
|
|
|
NM_052989.3(IFT122):c.830G>A (p.Arg277Gln)
|
|
|
NM_052989.3(IFT122):c.888G>T (p.Leu296Phe)
|
|
|
NM_052989.3(IFT122):c.916_917del (p.Leu306fs)
|
|
|
NM_052989.3(IFT122):c.928G>A (p.Asp310Asn)
|
|
|
NM_052989.3(IFT122):c.94G>A (p.Gly32Arg)
|
|
|
NM_147127.5(EVC2):c.105_126dup (p.Gly43fs)
|
rs1553855127
|
|
NM_147127.5(EVC2):c.1145+2T>G
|
|
|
NM_147127.5(EVC2):c.117G>A (p.Trp39Ter)
|
rs2151750059
|
|
NM_147127.5(EVC2):c.1245del (p.Ser416fs)
|
|
|
NM_147127.5(EVC2):c.1255dup (p.His419fs)
|
|
|
NM_147127.5(EVC2):c.133C>T (p.Gln45Ter)
|
rs1477102573
|
|
NM_147127.5(EVC2):c.1341C>G (p.Tyr447Ter)
|
|
|
NM_147127.5(EVC2):c.1522G>T (p.Glu508Ter)
|
|
|
NM_147127.5(EVC2):c.1595del (p.Phe532fs)
|
|
|
NM_147127.5(EVC2):c.1711-10del
|
rs35103377
|
|
NM_147127.5(EVC2):c.1711-20dup
|
rs35103377
|
|
NM_147127.5(EVC2):c.1929G>C (p.Glu643Asp)
|
|
|
NM_147127.5(EVC2):c.1967T>A (p.Leu656Ter)
|
rs1367694162
|
|
NM_147127.5(EVC2):c.199_208del (p.Ser67fs)
|
rs1420414097
|
|
NM_147127.5(EVC2):c.2019dup (p.Lys674Ter)
|
rs2108843158
|
|
NM_147127.5(EVC2):c.2041C>T (p.Gln681Ter)
|
|
|
NM_147127.5(EVC2):c.2047-2A>G
|
rs1553833239
|
|
NM_147127.5(EVC2):c.228+2T>G
|
|
|
NM_147127.5(EVC2):c.2320C>T (p.Gln774Ter)
|
|
|
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter)
|
rs1577170055
|
|
NM_147127.5(EVC2):c.2409_2419del (p.Gln804fs)
|
|
|
NM_147127.5(EVC2):c.2501+2T>G
|
|
|
NM_147127.5(EVC2):c.2656G>A (p.Glu886Lys)
|
|
|
NM_147127.5(EVC2):c.2707-2A>G
|
|
|
NM_147127.5(EVC2):c.2710C>T (p.Gln904Ter)
|
|
|
NM_147127.5(EVC2):c.273dup (p.Lys92Ter)
|
rs2151739536
|
|
NM_147127.5(EVC2):c.2881G>T (p.Gly961Ter)
|
|
|
NM_147127.5(EVC2):c.2885G>A (p.Gly962Asp)
|
rs748869122
|
|
NM_147127.5(EVC2):c.2893C>T (p.Gln965Ter)
|
|
|
NM_147127.5(EVC2):c.2945dup (p.Ser983fs)
|
|
|
NM_147127.5(EVC2):c.2958del (p.Ala987fs)
|
|
|
NM_147127.5(EVC2):c.2974C>T (p.Gln992Ter)
|
|
|
NM_147127.5(EVC2):c.2989G>T (p.Glu997Ter)
|
|
|
NM_147127.5(EVC2):c.3080_3107del (p.Lys1027fs)
|
rs1391194715
|
|
NM_147127.5(EVC2):c.30dup (p.Thr11fs)
|
rs1442303442
|
|
NM_147127.5(EVC2):c.3239del (p.Lys1080fs)
|
rs1291275281
|
|
NM_147127.5(EVC2):c.3286C>T (p.Gln1096Ter)
|
|
|
NM_147127.5(EVC2):c.3360+1G>A
|
rs1553815019
|
|
NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs)
|
rs750396637
|
|
NM_147127.5(EVC2):c.35G>A (p.Trp12Ter)
|
|
|
NM_147127.5(EVC2):c.386del (p.Ala129fs)
|
|
|
NM_147127.5(EVC2):c.3G>C (p.Met1Ile)
|
|
|
NM_147127.5(EVC2):c.451-1_452del
|
rs1721107398
|
|
NM_147127.5(EVC2):c.451-2A>G
|
rs1553851870
|
|
NM_147127.5(EVC2):c.469G>T (p.Glu157Ter)
|
|
|
NM_147127.5(EVC2):c.558G>A (p.Trp186Ter)
|
|
|
NM_147127.5(EVC2):c.816+1G>T
|
rs1355905411
|
|
NM_147127.5(EVC2):c.817-2A>G
|
rs1553849894
|
|
NM_147127.5(EVC2):c.821_824del (p.Arg274fs)
|
rs1368193719
|
|
NM_147127.5(EVC2):c.870+2T>C
|
|
|
NM_153717.3(EVC):c.-16_20del (p.Met1_Ala7del)
|
rs1445771901
|
|
NM_153717.3(EVC):c.-31_15dup (p.Ala6fs)
|
|
|
NM_153717.3(EVC):c.1036_1037del (p.Leu346fs)
|
rs767913372
|
|
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter)
|
rs779915989
|
|
NM_153717.3(EVC):c.1084del (p.Glu362fs)
|
|
|
NM_153717.3(EVC):c.114CGGCCT[4] (p.39GL[4])
|
rs1164121689
|
|
NM_153717.3(EVC):c.1316-7A>G
|
|
|
NM_153717.3(EVC):c.1652dup (p.Glu552fs)
|
|
|
NM_153717.3(EVC):c.1662_1663del (p.Cys554_Asp555delinsTer)
|
|
|
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter)
|
rs764397417
|
|
NM_153717.3(EVC):c.1858_1878del (p.Leu620_Leu626del)
|
|
|
NM_153717.3(EVC):c.1887-5_1904del
|
rs779275317
|
|
NM_153717.3(EVC):c.1981C>T (p.Gln661Ter)
|
|
|
NM_153717.3(EVC):c.2143_2144del (p.Gln715fs)
|
|
|
NM_153717.3(EVC):c.220C>T (p.Gln74Ter)
|
|
|
NM_153717.3(EVC):c.2304+2T>C
|
rs1553892090
|
|
NM_153717.3(EVC):c.2449+1G>A
|
rs1553893423
|
|
NM_153717.3(EVC):c.2545C>T (p.Gln849Ter)
|
rs561852174
|
|
NM_153717.3(EVC):c.2695G>T (p.Glu899Ter)
|
|
|
NM_153717.3(EVC):c.2889dup (p.Leu964fs)
|
|
|
NM_153717.3(EVC):c.384+1G>T
|
|
|
NM_153717.3(EVC):c.585_586insT (p.Asn196Ter)
|
|
|
NM_153717.3(EVC):c.618-1G>A
|
|
|
NM_153717.3(EVC):c.802-12_802-11del
|
rs372546602
|
|
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del)
|
rs755381180
|
|
NM_153717.3(EVC):c.90_91insT (p.Ala31fs)
|
|
|
NM_153717.3(EVC):c.910dup (p.Arg304fs)
|
rs1428798262
|
|