|
NM_020779.4(WDR35):c.2824-14G>T
|
rs1191779
|
0.96807
|
|
NM_025132.4(WDR19):c.603+23C>T
|
rs1451817
|
0.96807
|
|
NM_016004.5(IFT52):c.159G>A (p.Val53=)
|
rs2664519
|
0.74971
|
|
NM_020779.4(WDR35):c.25-46G>A
|
rs3731663
|
0.57247
|
|
NM_025132.4(WDR19):c.*229C>T
|
rs7564
|
0.52060
|
|
NM_025132.4(WDR19):c.3716+46dup
|
rs11096989
|
0.51347
|
|
NM_025132.4(WDR19):c.3841-27T>C
|
rs12648082
|
0.51304
|
|
NM_020779.4(WDR35):c.2496A>G (p.Glu832=)
|
rs6741091
|
0.45165
|
|
NM_002381.5(MATN3):c.*176C>T
|
rs7569975
|
0.44939
|
|
NM_025132.4(WDR19):c.3183+16A>G
|
rs11096987
|
0.33074
|
|
NM_020779.4(WDR35):c.2915A>G (p.Glu972Gly)
|
rs1191778
|
0.31383
|
|
NM_025132.4(WDR19):c.891C>T (p.Cys297=)
|
rs2167494
|
0.30055
|
|
NM_020779.4(WDR35):c.*523G>A
|
rs957614
|
0.25621
|
|
NM_020779.4(WDR35):c.*231C>A
|
rs1056233
|
0.25618
|
|
NM_002381.5(MATN3):c.1406-4C>T
|
rs35973216
|
0.25515
|
|
NM_052989.3(IFT122):c.740+15G>A
|
rs56379561
|
0.13063
|
|
NM_052989.3(IFT122):c.1654-12C>T
|
rs112066509
|
0.12634
|
|
NM_025132.4(WDR19):c.852A>G (p.Ser284=)
|
rs17584431
|
0.11533
|
|
NM_020779.4(WDR35):c.3121+12A>C
|
rs28502265
|
0.10214
|
|
NM_020779.4(WDR35):c.*1050T>C
|
rs10197890
|
0.10201
|
|
NM_020779.4(WDR35):c.*98T>C
|
rs6748924
|
0.10155
|
|
NM_052989.3(IFT122):c.1147+19C>T
|
rs2301570
|
0.10129
|
|
NM_020779.4(WDR35):c.*2463C>T
|
rs3731661
|
0.07941
|
|
NM_052989.3(IFT122):c.2060G>A (p.Arg687Gln)
|
rs61740161
|
0.07498
|
|
NM_020779.4(WDR35):c.53A>G (p.Gln18Arg)
|
rs1060742
|
0.07465
|
|
NM_020779.4(WDR35):c.2599G>A (p.Ala867Thr)
|
rs2293669
|
0.05563
|
|
NM_020779.4(WDR35):c.*1489G>A
|
rs10182866
|
0.05128
|
|
NM_025132.4(WDR19):c.-9A>G
|
rs60800612
|
0.05032
|
|
NM_003239.5(TGFB3):c.-614C>T
|
rs11466414
|
0.04715
|
|
NM_020779.4(WDR35):c.*1127A>G
|
rs75503594
|
0.04161
|
|
NM_025132.4(WDR19):c.910G>A (p.Val304Ile)
|
rs75964850
|
0.03961
|
|
NM_020779.4(WDR35):c.*2957G>A
|
rs76072774
|
0.03646
|
|
NM_020779.4(WDR35):c.549C>T (p.Tyr183=)
|
rs34169020
|
0.03645
|
|
NM_025132.4(WDR19):c.3250G>A (p.Gly1084Ser)
|
rs16995209
|
0.03548
|
|
NM_052985.3(IFT122):c.-206A>G
|
rs3138334
|
0.02635
|
|
NM_052989.3(IFT122):c.109-15T>C
|
rs114298924
|
0.02307
|
|
NM_020779.4(WDR35):c.*2836C>T
|
rs74469198
|
0.02096
|
|
NM_020779.4(WDR35):c.*2408G>C
|
rs112569580
|
0.01898
|
|
NM_025132.4(WDR19):c.1357-10T>C
|
rs16995189
|
0.01827
|
|
NM_020779.4(WDR35):c.*3268C>T
|
rs113280329
|
0.01807
|
|
NM_020779.4(WDR35):c.*1479C>T
|
rs77400381
|
0.01800
|
|
NM_020779.4(WDR35):c.*1129C>T
|
rs76845713
|
0.01385
|
|
NM_020779.4(WDR35):c.*2315G>C
|
rs72779355
|
0.01383
|
|
NM_052989.3(IFT122):c.3265+7C>T
|
rs9836202
|
0.01370
|
|
NM_003239.5(TGFB3):c.-543T>A
|
rs74448762
|
0.01331
|
|
NM_020779.4(WDR35):c.*553G>T
|
rs79153401
|
0.01323
|
|
NM_020779.4(WDR35):c.1601G>A (p.Arg534Gln)
|
rs113345685
|
0.01206
|
|
NM_052989.3(IFT122):c.2154C>T (p.His718=)
|
rs116819033
|
0.01164
|
|
NM_020779.4(WDR35):c.3019C>T (p.Arg1007Cys)
|
rs56395266
|
0.01130
|
|
NM_020779.4(WDR35):c.*1575_*1576dup
|
rs202074829
|
0.01057
|
|
NM_052989.3(IFT122):c.1943A>C (p.Glu648Ala)
|
rs144397126
|
0.01035
|
|
NM_052989.3(IFT122):c.1854C>T (p.Ser618=)
|
rs146874343
|
0.00981
|
|
NM_025132.4(WDR19):c.1607G>C (p.Ser536Thr)
|
rs115348383
|
0.00917
|
|
NM_052989.3(IFT122):c.2682G>A (p.Ala894=)
|
rs61741773
|
0.00905
|
|
NM_025132.4(WDR19):c.2096G>A (p.Arg699Gln)
|
rs138529452
|
0.00883
|
|
NM_052989.3(IFT122):c.2415C>T (p.Arg805=)
|
rs61744218
|
0.00860
|
|
NM_025132.4(WDR19):c.1581C>A (p.Thr527=)
|
rs114689848
|
0.00847
|
|
NM_020779.4(WDR35):c.1089G>A (p.Thr363=)
|
rs79829477
|
0.00817
|
|
NM_052985.3(IFT122):c.-210C>A
|
rs148987764
|
0.00690
|
|
NM_020779.4(WDR35):c.*1406A>G
|
rs10197681
|
0.00613
|
|
NM_052989.3(IFT122):c.3303G>T (p.Gly1101=)
|
rs111668739
|
0.00548
|
|
NM_020779.4(WDR35):c.*531T>A
|
rs187092318
|
0.00530
|
|
NM_052989.3(IFT122):c.1239G>A (p.Glu413=)
|
rs111717774
|
0.00480
|
|
NM_052989.3(IFT122):c.1273C>T (p.Arg425Trp)
|
rs61744639
|
0.00451
|
|
NM_052989.3(IFT122):c.2349C>A (p.Ile783=)
|
rs114357746
|
0.00442
|
|
NM_052989.3(IFT122):c.1993-8C>T
|
rs531091599
|
0.00439
|
|
NM_052989.3(IFT122):c.1113C>T (p.Asp371=)
|
rs139319087
|
0.00429
|
|
NM_020779.4(WDR35):c.2414+20C>T
|
rs116756504
|
0.00361
|
|
NM_052989.3(IFT122):c.1908T>C (p.Ile636=)
|
rs139722192
|
0.00334
|
|
NM_052989.3(IFT122):c.321A>G (p.Gln107=)
|
rs138793724
|
0.00299
|
|
NM_020779.4(WDR35):c.*813A>T
|
rs148210550
|
0.00290
|
|
NM_020779.4(WDR35):c.2262C>T (p.Asp754=)
|
rs147206032
|
0.00285
|
|
NM_052989.3(IFT122):c.3432C>T (p.Ile1144=)
|
rs149884307
|
0.00277
|
|
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser)
|
rs187546086
|
0.00275
|
|
NM_020779.4(WDR35):c.318T>C (p.Ile106=)
|
rs115963122
|
0.00263
|
|
NM_020779.4(WDR35):c.2964+12C>T
|
rs113663112
|
0.00252
|
|
NM_025132.4(WDR19):c.-15G>T
|
rs150860929
|
0.00252
|
|
NM_025132.4(WDR19):c.3183+9G>A
|
rs138318063
|
0.00248
|
|
NM_025132.4(WDR19):c.2142+12G>A
|
rs149621476
|
0.00246
|
|
NM_020779.4(WDR35):c.1591C>G (p.Leu531Val)
|
rs148242353
|
0.00233
|
|
NM_025132.4(WDR19):c.1915A>G (p.Ser639Gly)
|
rs150649460
|
0.00222
|
|
NM_020779.4(WDR35):c.355C>T (p.Arg119Cys)
|
rs140308808
|
0.00221
|
|
NM_052989.3(IFT122):c.2294A>C (p.Lys765Thr)
|
rs146026277
|
0.00212
|
|
NM_052989.3(IFT122):c.3129C>T (p.Arg1043=)
|
rs76881473
|
0.00206
|
|
NM_020779.4(WDR35):c.1524+11C>A
|
rs200213874
|
0.00201
|
|
NM_020779.4(WDR35):c.3121+3G>A
|
rs200042577
|
0.00199
|
|
NM_020779.4(WDR35):c.*3225G>A
|
rs189820516
|
0.00198
|
|
NM_020779.4(WDR35):c.*3235C>A
|
rs186978842
|
0.00198
|
|
NM_020779.4(WDR35):c.2566G>T (p.Val856Phe)
|
rs149667250
|
0.00188
|
|
NM_052989.3(IFT122):c.273-331C>A
|
rs116196975
|
0.00187
|
|
NM_052989.3(IFT122):c.617T>C (p.Ile206Thr)
|
rs59912693
|
0.00184
|
|
NM_020779.4(WDR35):c.*997T>C
|
rs536197643
|
0.00183
|
|
NM_020779.4(WDR35):c.2066G>A (p.Arg689His)
|
rs74470618
|
0.00168
|
|
NM_025132.4(WDR19):c.2361C>T (p.Phe787=)
|
rs200133722
|
0.00165
|
|
NM_020779.4(WDR35):c.*1582C>T
|
rs757203175
|
0.00162
|
|
NM_020779.4(WDR35):c.3279G>C (p.Gln1093His)
|
rs148436608
|
0.00161
|
|
NM_020779.4(WDR35):c.*1681A>G
|
rs188310451
|
0.00158
|
|
NM_025132.4(WDR19):c.3667C>T (p.Arg1223Cys)
|
rs201597047
|
0.00150
|
|
NM_020779.4(WDR35):c.*601A>G
|
rs182037850
|
0.00146
|
|
NM_020779.4(WDR35):c.1248T>G (p.Ile416Met)
|
rs144701688
|
0.00145
|
|
NM_020779.4(WDR35):c.*2160T>C
|
rs192966128
|
0.00144
|
|
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr)
|
rs143343508
|
0.00135
|
|
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn)
|
rs150550701
|
0.00133
|
|
NM_052989.3(IFT122):c.3462G>A (p.Leu1154=)
|
rs150692598
|
0.00125
|
|
NM_020779.4(WDR35):c.1755C>T (p.Val585=)
|
rs146130105
|
0.00124
|
|
NM_020779.4(WDR35):c.*2623T>C
|
rs538967974
|
0.00121
|
|
NM_052989.3(IFT122):c.3244A>G (p.Ile1082Val)
|
rs143490747
|
0.00120
|
|
NM_020779.4(WDR35):c.*2622A>G
|
rs558837510
|
0.00116
|
|
NM_001102564.3(IFT43):c.54+15G>T
|
rs372505367
|
0.00105
|
|
NM_052989.3(IFT122):c.2433C>T (p.Cys811=)
|
rs141626835
|
0.00103
|
|
NM_025132.4(WDR19):c.2386G>A (p.Ala796Thr)
|
rs187332731
|
0.00101
|
|
NM_020779.4(WDR35):c.*1006G>A
|
rs80292673
|
0.00098
|
|
NM_020779.4(WDR35):c.*1668A>C
|
rs191316348
|
0.00098
|
|
NM_020779.4(WDR35):c.1471-7A>G
|
rs376388391
|
0.00098
|
|
NM_020779.4(WDR35):c.437-13T>C
|
rs367802842
|
0.00098
|
|
NM_020779.4(WDR35):c.3335A>G (p.Lys1112Arg)
|
rs138007924
|
0.00097
|
|
NM_020779.4(WDR35):c.142+10T>C
|
rs186647997
|
0.00096
|
|
NM_020779.4(WDR35):c.770T>C (p.Val257Ala)
|
rs142955097
|
0.00095
|
|
NM_052989.3(IFT122):c.825G>T (p.Lys275Asn)
|
rs117517364
|
0.00095
|
|
NM_020779.4(WDR35):c.507A>G (p.Lys169=)
|
rs200495720
|
0.00094
|
|
NM_020779.4(WDR35):c.2678T>C (p.Leu893Ser)
|
rs151047156
|
0.00093
|
|
NM_020779.4(WDR35):c.2149A>G (p.Ile717Val)
|
rs144493712
|
0.00089
|
|
NM_052989.3(IFT122):c.2749T>G (p.Tyr917Asp)
|
rs146818399
|
0.00088
|
|
NM_052989.3(IFT122):c.41+15G>T
|
rs36222038
|
0.00084
|
|
NM_025132.4(WDR19):c.1198C>T (p.Leu400=)
|
rs199765304
|
0.00079
|
|
NM_052989.3(IFT122):c.214T>G (p.Ser72Ala)
|
rs144140226
|
0.00077
|
|
NM_025132.4(WDR19):c.3261+12G>A
|
rs137960733
|
0.00076
|
|
NM_052989.3(IFT122):c.1026C>T (p.Asp342=)
|
rs79187669
|
0.00075
|
|
NM_020779.4(WDR35):c.853A>T (p.Ile285Phe)
|
rs200059077
|
0.00073
|
|
NM_020779.4(WDR35):c.3467T>G (p.Ile1156Arg)
|
rs147325795
|
0.00072
|
|
NM_020779.4(WDR35):c.*2620G>A
|
rs545271105
|
0.00068
|
|
NM_020779.4(WDR35):c.1401-15T>G
|
rs201903683
|
0.00068
|
|
NM_020779.4(WDR35):c.*2797G>A
|
rs528776835
|
0.00066
|
|
NM_025132.4(WDR19):c.2363+7C>T
|
rs190180293
|
0.00066
|
|
NM_025132.4(WDR19):c.3416A>G (p.Gln1139Arg)
|
rs75621037
|
0.00065
|
|
NM_020779.4(WDR35):c.*2619C>T
|
rs565144558
|
0.00064
|
|
NM_025132.4(WDR19):c.2608G>A (p.Asp870Asn)
|
rs201963605
|
0.00064
|
|
NM_020779.4(WDR35):c.1227A>G (p.Thr409=)
|
rs148828104
|
0.00059
|
|
NM_052989.3(IFT122):c.3392-20C>T
|
rs200747264
|
0.00058
|
|
NM_052989.3(IFT122):c.3487T>A (p.Phe1163Ile)
|
rs200606803
|
0.00057
|
|
NM_020779.4(WDR35):c.*487C>T
|
rs116951767
|
0.00056
|
|
NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly)
|
rs201354264
|
0.00056
|
|
NM_025132.4(WDR19):c.3918-6A>C
|
rs199546190
|
0.00053
|
|
NM_001102564.3(IFT43):c.136C>T (p.Leu46=)
|
rs151137087
|
0.00052
|
|
NM_020779.4(WDR35):c.1072G>A (p.Val358Ile)
|
rs151227688
|
0.00051
|
|
NM_025132.4(WDR19):c.490G>A (p.Val164Ile)
|
rs199514431
|
0.00051
|
|
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_052989.3(IFT122):c.986C>T (p.Ala329Val)
|
rs200915373
|
0.00049
|
|
NM_020779.4(WDR35):c.2936G>A (p.Arg979Gln)
|
rs138076014
|
0.00047
|
|
NM_001102564.3(IFT43):c.383G>A (p.Arg128Gln)
|
rs138684775
|
0.00045
|
|
NM_020779.4(WDR35):c.1051C>G (p.Pro351Ala)
|
rs140753861
|
0.00045
|
|
NM_020779.4(WDR35):c.3026C>G (p.Thr1009Arg)
|
rs201153804
|
0.00045
|
|
NM_052989.3(IFT122):c.2908C>T (p.Arg970Cys)
|
rs145470016
|
0.00044
|
|
NM_016004.5(IFT52):c.157G>A (p.Val53Met)
|
rs137979762
|
0.00043
|
|
NM_025132.4(WDR19):c.*106T>G
|
rs147600266
|
0.00043
|
|
NM_025132.4(WDR19):c.13+15G>A
|
rs150633358
|
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_025132.4(WDR19):c.*152G>A
|
rs533059483
|
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_052989.3(IFT122):c.416+18G>A
|
rs147288978
|
0.00037
|
|
NM_020779.4(WDR35):c.*763T>C
|
rs560228088
|
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_052989.3(IFT122):c.1310A>G (p.Asn437Ser)
|
rs142655964
|
0.00035
|
|
NM_025132.4(WDR19):c.3249T>C (p.Asp1083=)
|
rs371128500
|
0.00034
|
|
NM_052989.3(IFT122):c.1553G>A (p.Arg518His)
|
rs138223055
|
0.00034
|
|
NM_001102564.3(IFT43):c.516C>T (p.Val172=)
|
rs372647793
|
0.00033
|
|
NM_025132.4(WDR19):c.2364-15_2364-14del
|
rs555557314
|
0.00033
|
|
NM_052989.3(IFT122):c.2643C>T (p.Ala881=)
|
rs150055466
|
0.00032
|
|
NM_020779.4(WDR35):c.*1253C>G
|
rs368665906
|
0.00031
|
|
NM_020779.4(WDR35):c.2965-4G>T
|
rs199696980
|
0.00031
|
|
NM_025132.4(WDR19):c.2239A>G (p.Ile747Val)
|
rs144335584
|
0.00031
|
|
NM_020779.4(WDR35):c.*795C>T
|
rs190700326
|
0.00030
|
|
NM_020779.4(WDR35):c.2964+10C>A
|
rs201207790
|
0.00030
|
|
NM_020779.4(WDR35):c.681T>C (p.Leu227=)
|
rs143901897
|
0.00030
|
|
NM_025132.4(WDR19):c.929A>G (p.Tyr310Cys)
|
rs199783864
|
0.00030
|
|
NM_025132.4(WDR19):c.1566C>T (p.Pro522=)
|
rs200692490
|
0.00029
|
|
NM_052989.3(IFT122):c.417-16T>C
|
rs192128912
|
0.00029
|
|
NM_001006657.2(WDR35):c.1226C>T (p.Thr409Met)
|
rs143430766
|
0.00027
|
|
NM_020779.4(WDR35):c.*1413C>T
|
rs567295822
|
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_020779.4(WDR35):c.*807T>C
|
rs555257043
|
0.00026
|
|
NM_001102564.3(IFT43):c.583C>T (p.Gln195Ter)
|
rs150616080
|
0.00025
|
|
NM_020779.4(WDR35):c.1690C>T (p.Arg564Ter)
|
rs367810877
|
0.00024
|
|
NM_025132.4(WDR19):c.3484-15T>C
|
rs376870184
|
0.00024
|
|
NM_052989.3(IFT122):c.3533G>A (p.Arg1178His)
|
rs149029829
|
0.00024
|
|
NM_020779.4(WDR35):c.2458C>T (p.Arg820Cys)
|
rs141190788
|
0.00023
|
|
NM_020779.4(WDR35):c.*1370G>A
|
rs1039776865
|
0.00021
|
|
NM_052989.3(IFT122):c.1380C>T (p.Ser460=)
|
rs142641511
|
0.00021
|
|
NM_052989.3(IFT122):c.1525G>A (p.Val509Ile)
|
rs368750069
|
0.00021
|
|
NM_052989.3(IFT122):c.1533G>A (p.Leu511=)
|
rs183614690
|
0.00021
|
|
NM_052989.3(IFT122):c.531G>A (p.Ser177=)
|
rs150496357
|
0.00021
|
|
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_020779.4(WDR35):c.1889T>G (p.Leu630Ter)
|
rs199952377
|
0.00019
|
|
NM_020779.4(WDR35):c.2065C>T (p.Arg689Cys)
|
rs140196566
|
0.00019
|
|
NM_020779.4(WDR35):c.2456A>G (p.Glu819Gly)
|
rs139352103
|
0.00019
|
|
NM_025132.4(WDR19):c.1595T>C (p.Ile532Thr)
|
rs749672769
|
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_020779.4(WDR35):c.1330C>T (p.Arg444Cys)
|
rs148510977
|
0.00018
|
|
NM_001006657.2(WDR35):c.1203C>T (p.Asn401=)
|
rs142103808
|
0.00017
|
|
NM_001102564.3(IFT43):c.444+5G>A
|
rs377078385
|
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_020779.4(WDR35):c.*1062G>A
|
rs778834686
|
0.00016
|
|
NM_020779.4(WDR35):c.2254G>A (p.Glu752Lys)
|
rs756006241
|
0.00016
|
|
NM_052989.3(IFT122):c.1009-14C>T
|
rs202155515
|
0.00016
|
|
NM_020779.4(WDR35):c.2999A>T (p.Glu1000Val)
|
rs370951527
|
0.00015
|
|
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)
|
rs79436363
|
0.00015
|
|
NM_052989.3(IFT122):c.1821C>A (p.Val607=)
|
rs141632773
|
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_020779.4(WDR35):c.3252G>A (p.Glu1084=)
|
rs182360785
|
0.00014
|
|
NM_025132.4(WDR19):c.3435C>T (p.Ser1145=)
|
rs200659514
|
0.00014
|
|
NM_052989.3(IFT122):c.1139A>G (p.Glu380Gly)
|
rs755060067
|
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_020779.4(WDR35):c.2777A>G (p.Tyr926Cys)
|
rs75602337
|
0.00013
|
|
NM_020779.4(WDR35):c.3349A>G (p.Ser1117Gly)
|
rs369515554
|
0.00013
|
|
NM_020779.4(WDR35):c.765C>T (p.Tyr255=)
|
rs117255034
|
0.00013
|
|
NM_025132.4(WDR19):c.1134+13T>G
|
rs374615138
|
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_052989.3(IFT122):c.1383A>G (p.Gly461=)
|
rs147887396
|
0.00013
|
|
NM_001006657.2(WDR35):c.1215A>G (p.Thr405=)
|
rs144673252
|
0.00011
|
|
NM_020779.4(WDR35):c.*2618G>A
|
rs563586298
|
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_025132.4(WDR19):c.1249+9A>G
|
rs201377206
|
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.3027C>T (p.Asp1009=)
|
rs181975379
|
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.6+5A>G
|
rs201198839
|
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_001102564.3(IFT43):c.92C>T (p.Ala31Val)
|
rs147933112
|
0.00010
|
|
NM_020779.4(WDR35):c.2835A>G (p.Glu945=)
|
rs182928585
|
0.00010
|
|
NM_025132.4(WDR19):c.1064A>T (p.Asp355Val)
|
rs192495145
|
0.00010
|
|
NM_025132.4(WDR19):c.1775A>G (p.Gln592Arg)
|
rs190192706
|
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_020779.4(WDR35):c.*2559A>G
|
rs751743368
|
0.00009
|
|
NM_020779.4(WDR35):c.*2887T>C
|
rs749198501
|
0.00009
|
|
NM_020779.4(WDR35):c.*712A>T
|
rs572859023
|
0.00009
|
|
NM_020779.4(WDR35):c.1861T>C (p.Ser621Pro)
|
rs199882056
|
0.00009
|
|
NM_020779.4(WDR35):c.725A>G (p.Glu242Gly)
|
rs139543775
|
0.00009
|
|
NM_025132.4(WDR19):c.2364-15T>C
|
rs771036360
|
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.3570G>T (p.Leu1190=)
|
rs146778076
|
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_001102564.3(IFT43):c.445-15T>C
|
rs745766333
|
0.00008
|
|
NM_020779.4(WDR35):c.*563T>G
|
rs561642193
|
0.00008
|
|
NM_020779.4(WDR35):c.2109T>G (p.Thr703=)
|
rs201822027
|
0.00008
|
|
NM_020779.4(WDR35):c.66G>T (p.Trp22Cys)
|
rs201860485
|
0.00008
|
|
NM_020779.4(WDR35):c.867C>T (p.Tyr289=)
|
rs185888517
|
0.00008
|
|
NM_025132.4(WDR19):c.1127T>C (p.Val376Ala)
|
rs773816730
|
0.00008
|
|
NM_025132.4(WDR19):c.1357-7G>A
|
rs377101599
|
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.-3G>A
|
rs367704478
|
0.00008
|
|
NM_052989.3(IFT122):c.2600C>T (p.Pro867Leu)
|
rs147499719
|
0.00008
|
|
NM_052989.3(IFT122):c.2721G>A (p.Ala907=)
|
rs371570973
|
0.00008
|
|
NM_052989.3(IFT122):c.938G>A (p.Arg313Gln)
|
rs376018883
|
0.00008
|
|
NM_020779.4(WDR35):c.*1146T>C
|
rs1036362475
|
0.00007
|
|
NM_020779.4(WDR35):c.*1207C>G
|
rs1466981368
|
0.00007
|
|
NM_020779.4(WDR35):c.2230G>A (p.Glu744Lys)
|
rs1420842472
|
0.00007
|
|
NM_020779.4(WDR35):c.2847A>G (p.Lys949=)
|
rs373983961
|
0.00007
|
|
NM_020779.4(WDR35):c.3460C>G (p.Gln1154Glu)
|
rs774768083
|
0.00007
|
|
NM_025132.4(WDR19):c.1391G>A (p.Arg464His)
|
rs369201153
|
0.00007
|
|
NM_025132.4(WDR19):c.1839A>G (p.Leu613=)
|
rs201320006
|
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.2375+13C>T
|
rs749785449
|
0.00007
|
|
NM_052989.3(IFT122):c.272+1G>A
|
rs372483083
|
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_020779.4(WDR35):c.1098T>C (p.Asn366=)
|
rs780105362
|
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.2137G>A (p.Asp713Asn)
|
rs778732776
|
0.00006
|
|
NM_020779.4(WDR35):c.2573T>C (p.Val858Ala)
|
rs759587265
|
0.00006
|
|
NM_020779.4(WDR35):c.2644G>A (p.Val882Ile)
|
rs377535267
|
0.00006
|
|
NM_020779.4(WDR35):c.2930C>T (p.Ala977Val)
|
rs754516323
|
0.00006
|
|
NM_020779.4(WDR35):c.3193T>A (p.Cys1065Ser)
|
rs200258619
|
0.00006
|
|
NM_020779.4(WDR35):c.657C>T (p.Tyr219=)
|
rs768183424
|
0.00006
|
|
NM_020779.4(WDR35):c.817T>G (p.Phe273Val)
|
rs370377789
|
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.3362A>G (p.Asn1121Ser)
|
rs545916111
|
0.00006
|
|
NM_052989.3(IFT122):c.1150C>T (p.Arg384Trp)
|
rs139079256
|
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.1992+7A>G
|
rs757823317
|
0.00006
|
|
NM_052989.3(IFT122):c.273-268A>T
|
rs376246143
|
0.00006
|
|
NM_052989.3(IFT122):c.3127C>A (p.Arg1043Ser)
|
rs555281580
|
0.00006
|
|
NM_052989.3(IFT122):c.3128G>A (p.Arg1043His)
|
rs576743578
|
0.00006
|
|
NM_052989.3(IFT122):c.3232C>T (p.Arg1078Cys)
|
rs771499492
|
0.00006
|
|
NM_052989.3(IFT122):c.3603C>T (p.Asp1201=)
|
rs369729210
|
0.00006
|
|
NM_052989.3(IFT122):c.475C>T (p.Arg159Trp)
|
rs140547512
|
0.00006
|
|
NM_052989.3(IFT122):c.93C>T (p.Ala31=)
|
rs374303835
|
0.00006
|
|
NM_020779.4(WDR35):c.*1957C>T
|
rs947201612
|
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.2580G>A (p.Met860Ile)
|
rs201443916
|
0.00005
|
|
NM_020779.4(WDR35):c.2659-19G>A
|
rs749563049
|
0.00005
|
|
NM_020779.4(WDR35):c.2836G>A (p.Glu946Lys)
|
rs779009587
|
0.00005
|
|
NM_020779.4(WDR35):c.994C>T (p.Arg332Ter)
|
rs199840434
|
0.00005
|
|
NM_025132.4(WDR19):c.1173C>T (p.Asn391=)
|
rs777985189
|
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.962-11G>A
|
rs537505873
|
0.00005
|
|
NM_052989.3(IFT122):c.228C>T (p.Ser76=)
|
rs772835552
|
0.00005
|
|
NM_052989.3(IFT122):c.3217G>A (p.Val1073Ile)
|
rs138028750
|
0.00005
|
|
NM_052989.3(IFT122):c.3309T>G (p.Thr1103=)
|
rs749601918
|
0.00005
|
|
NM_052989.3(IFT122):c.3594G>T (p.Leu1198=)
|
rs775936679
|
0.00005
|
|
NM_052989.3(IFT122):c.54C>T (p.Ile18=)
|
rs139138308
|
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_001006657.2(WDR35):c.1204G>A (p.Glu402Lys)
|
rs553534590
|
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_016004.5(IFT52):c.1189C>T (p.Pro397Ser)
|
rs764053825
|
0.00004
|
|
NM_020779.4(WDR35):c.*1219G>A
|
rs1003005484
|
0.00004
|
|
NM_020779.4(WDR35):c.*2989C>T
|
rs886055392
|
0.00004
|
|
NM_020779.4(WDR35):c.*3269G>A
|
rs886055391
|
0.00004
|
|
NM_020779.4(WDR35):c.1029T>C (p.Thr343=)
|
rs536150588
|
0.00004
|
|
NM_020779.4(WDR35):c.1053T>C (p.Pro351=)
|
rs74385826
|
0.00004
|
|
NM_020779.4(WDR35):c.1255+1G>A
|
rs371669862
|
0.00004
|
|
NM_020779.4(WDR35):c.143-4T>C
|
rs1180620404
|
0.00004
|
|
NM_020779.4(WDR35):c.1529G>A (p.Arg510His)
|
rs763031783
|
0.00004
|
|
NM_020779.4(WDR35):c.1637G>A (p.Arg546His)
|
rs529313875
|
0.00004
|
|
NM_020779.4(WDR35):c.1697C>T (p.Thr566Met)
|
rs780159239
|
0.00004
|
|
NM_020779.4(WDR35):c.2278A>G (p.Ile760Val)
|
rs370956261
|
0.00004
|
|
NM_020779.4(WDR35):c.2592A>G (p.Ala864=)
|
rs750654551
|
0.00004
|
|
NM_020779.4(WDR35):c.2877C>G (p.Leu959=)
|
rs139447814
|
0.00004
|
|
NM_020779.4(WDR35):c.2891C>G (p.Ala964Gly)
|
rs1281384371
|
0.00004
|
|
NM_020779.4(WDR35):c.3136G>C (p.Asp1046His)
|
rs200760434
|
0.00004
|
|
NM_020779.4(WDR35):c.3307A>T (p.Thr1103Ser)
|
rs774898515
|
0.00004
|
|
NM_020779.4(WDR35):c.551A>G (p.Asp184Gly)
|
rs370873468
|
0.00004
|
|
NM_020779.4(WDR35):c.742G>A (p.Val248Ile)
|
rs372968757
|
0.00004
|
|
NM_020779.4(WDR35):c.798C>T (p.Ser266=)
|
rs141118263
|
0.00004
|
|
NM_020779.4(WDR35):c.958C>A (p.Leu320Ile)
|
rs573430534
|
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.2577G>A (p.Ala859=)
|
rs753596825
|
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.3502G>A (p.Asp1168Asn)
|
rs750250561
|
0.00004
|
|
NM_025132.4(WDR19):c.3532C>T (p.Arg1178Trp)
|
rs754690461
|
0.00004
|
|
NM_025132.4(WDR19):c.641T>A (p.Leu214Ter)
|
rs751290509
|
0.00004
|
|
NM_025132.4(WDR19):c.817A>G (p.Asn273Asp)
|
rs375644378
|
0.00004
|
|
NM_052985.3(IFT122):c.-145T>A
|
rs923805618
|
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.2650+12A>G
|
rs777744869
|
0.00004
|
|
NM_052989.3(IFT122):c.2681C>T (p.Ala894Val)
|
rs376549217
|
0.00004
|
|
NM_052989.3(IFT122):c.273-260T>C
|
rs369997431
|
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.2988-6C>T
|
rs749670705
|
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.3267C>T (p.Asp1089=)
|
rs759436069
|
0.00004
|
|
NM_052989.3(IFT122):c.3333C>T (p.Ile1111=)
|
rs991750889
|
0.00004
|
|
NM_052989.3(IFT122):c.3343G>T (p.Val1115Leu)
|
rs557159295
|
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.563+7T>C
|
rs371311619
|
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_001006657.2(WDR35):c.1206G>T (p.Glu402Asp)
|
rs762190195
|
0.00003
|
|
NM_001102564.3(IFT43):c.501C>A (p.Val167=)
|
rs1248117843
|
0.00003
|
|
NM_020779.4(WDR35):c.*1038C>G
|
rs145549829
|
0.00003
|
|
NM_020779.4(WDR35):c.*1218C>T
|
rs990547735
|
0.00003
|
|
NM_020779.4(WDR35):c.*1821A>G
|
rs978221263
|
0.00003
|
|
NM_020779.4(WDR35):c.1113A>G (p.Lys371=)
|
rs778831561
|
0.00003
|
|
NM_020779.4(WDR35):c.1260A>G (p.Pro420=)
|
rs573958749
|
0.00003
|
|
NM_020779.4(WDR35):c.142+5A>G
|
rs762617889
|
0.00003
|
|
NM_020779.4(WDR35):c.1636C>T (p.Arg546Cys)
|
rs549077153
|
0.00003
|
|
NM_020779.4(WDR35):c.197C>T (p.Thr66Ile)
|
rs143397737
|
0.00003
|
|
NM_020779.4(WDR35):c.2128C>T (p.Arg710Cys)
|
rs781365658
|
0.00003
|
|
NM_020779.4(WDR35):c.2326C>T (p.Leu776=)
|
rs772138388
|
0.00003
|
|
NM_020779.4(WDR35):c.2446C>T (p.Arg816Trp)
|
rs374027943
|
0.00003
|
|
NM_020779.4(WDR35):c.25-2A>G
|
rs397515534
|
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.3363-15C>T
|
rs763500770
|
0.00003
|
|
NM_020779.4(WDR35):c.628A>G (p.Ile210Val)
|
rs1413290520
|
0.00003
|
|
NM_020779.4(WDR35):c.766G>A (p.Val256Ile)
|
rs745580829
|
0.00003
|
|
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu)
|
rs200649783
|
0.00003
|
|
NM_025132.4(WDR19):c.*131C>T
|
rs886059404
|
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.2129T>C (p.Leu710Ser)
|
rs387906980
|
0.00003
|
|
NM_025132.4(WDR19):c.2872G>A (p.Ala958Thr)
|
rs1057523257
|
0.00003
|
|
NM_025132.4(WDR19):c.3283T>C (p.Leu1095=)
|
rs769329045
|
0.00003
|
|
NM_025132.4(WDR19):c.3716+13G>A
|
rs759523972
|
0.00003
|
|
NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu)
|
rs576113399
|
0.00003
|
|
NM_025132.4(WDR19):c.3749C>T (p.Thr1250Met)
|
rs529745222
|
0.00003
|
|
NM_025132.4(WDR19):c.3874T>C (p.Cys1292Arg)
|
rs766752510
|
0.00003
|
|
NM_025132.4(WDR19):c.523-3T>C
|
rs747603843
|
0.00003
|
|
NM_025132.4(WDR19):c.778C>T (p.His260Tyr)
|
rs754678482
|
0.00003
|
|
NM_052989.3(IFT122):c.*16C>T
|
rs763993447
|
0.00003
|
|
NM_052989.3(IFT122):c.1207A>C (p.Ile403Leu)
|
rs149915993
|
0.00003
|
|
NM_052989.3(IFT122):c.1488+10C>T
|
rs766274915
|
0.00003
|
|
NM_052989.3(IFT122):c.1503C>T (p.Phe501=)
|
rs113871672
|
0.00003
|
|
NM_052989.3(IFT122):c.1526T>C (p.Val509Ala)
|
rs191420441
|
0.00003
|
|
NM_052989.3(IFT122):c.1795G>A (p.Gly599Ser)
|
rs758194778
|
0.00003
|
|
NM_052989.3(IFT122):c.2389G>A (p.Ala797Thr)
|
rs376362722
|
0.00003
|
|
NM_052989.3(IFT122):c.2720C>T (p.Ala907Val)
|
rs377690924
|
0.00003
|
|
NM_052989.3(IFT122):c.2736T>C (p.Asn912=)
|
rs752961918
|
0.00003
|
|
NM_052989.3(IFT122):c.2840G>A (p.Arg947His)
|
rs760810819
|
0.00003
|
|
NM_052989.3(IFT122):c.3087C>A (p.Ala1029=)
|
rs777602970
|
0.00003
|
|
NM_052989.3(IFT122):c.3144C>T (p.His1048=)
|
rs777717739
|
0.00003
|
|
NM_052989.3(IFT122):c.3521G>A (p.Arg1174His)
|
rs143602964
|
0.00003
|
|
NM_052989.3(IFT122):c.3554G>A (p.Arg1185Gln)
|
rs754808589
|
0.00003
|
|
NM_052989.3(IFT122):c.3642C>G (p.Phe1214Leu)
|
rs751262275
|
0.00003
|
|
NM_052989.3(IFT122):c.3697C>T (p.Arg1233Cys)
|
rs778449955
|
0.00003
|
|
NM_052989.3(IFT122):c.564-15A>G
|
rs919325670
|
0.00003
|
|
NM_052989.3(IFT122):c.669C>T (p.Tyr223=)
|
rs139008392
|
0.00003
|
|
NM_052989.3(IFT122):c.732C>T (p.Asp244=)
|
rs202074599
|
0.00003
|
|
NM_052989.3(IFT122):c.783G>A (p.Gln261=)
|
rs144727222
|
0.00003
|
|
NM_052989.3(IFT122):c.965C>T (p.Ser322Phe)
|
rs267607192
|
0.00003
|
|
NM_052989.3(IFT122):c.978G>A (p.Thr326=)
|
rs781409395
|
0.00003
|
|
NM_206996.4(SPAG17):c.1069G>C (p.Asp357His)
|
rs183758503
|
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_020779.4(WDR35):c.*297A>G
|
rs886891593
|
0.00002
|
|
NM_020779.4(WDR35):c.*305T>C
|
rs1404107870
|
0.00002
|
|
NM_020779.4(WDR35):c.136C>T (p.Gln46Ter)
|
rs767788330
|
0.00002
|
|
NM_020779.4(WDR35):c.1382G>A (p.Arg461Gln)
|
rs200140363
|
0.00002
|
|
NM_020779.4(WDR35):c.1410T>C (p.His470=)
|
rs1257210913
|
0.00002
|
|
NM_020779.4(WDR35):c.1435A>G (p.Met479Val)
|
rs797046099
|
0.00002
|
|
NM_020779.4(WDR35):c.1694_1695dup (p.Thr566Ter)
|
rs766096320
|
0.00002
|
|
NM_020779.4(WDR35):c.1798A>G (p.Met600Val)
|
rs751974091
|
0.00002
|
|
NM_020779.4(WDR35):c.1972C>T (p.Arg658Trp)
|
rs754056303
|
0.00002
|
|
NM_020779.4(WDR35):c.2030A>G (p.Gln677Arg)
|
rs771708013
|
0.00002
|
|
NM_020779.4(WDR35):c.2107A>G (p.Thr703Ala)
|
rs886055405
|
0.00002
|
|
NM_020779.4(WDR35):c.2643C>T (p.Cys881=)
|
rs776211441
|
0.00002
|
|
NM_020779.4(WDR35):c.2726A>G (p.Tyr909Cys)
|
rs369793891
|
0.00002
|
|
NM_020779.4(WDR35):c.287T>C (p.Ile96Thr)
|
rs1388421523
|
0.00002
|
|
NM_020779.4(WDR35):c.3189C>T (p.Cys1063=)
|
rs1295936600
|
0.00002
|
|
NM_020779.4(WDR35):c.3254C>A (p.Thr1085Asn)
|
rs190070503
|
0.00002
|
|
NM_020779.4(WDR35):c.3345G>A (p.Leu1115=)
|
rs746128772
|
0.00002
|
|
NM_020779.4(WDR35):c.339A>G (p.Arg113=)
|
rs750227579
|
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_025132.4(WDR19):c.*296T>G
|
rs542204770
|
0.00002
|
|
NM_025132.4(WDR19):c.128G>A (p.Arg43His)
|
rs770312522
|
0.00002
|
|
NM_025132.4(WDR19):c.13+14C>T
|
rs758352852
|
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.2954C>A (p.Thr985Lys)
|
rs769807270
|
0.00002
|
|
NM_025132.4(WDR19):c.3042C>T (p.Ala1014=)
|
rs761990492
|
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.3483+11T>C
|
rs766475725
|
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_025132.4(WDR19):c.822T>C (p.His274=)
|
rs750215526
|
0.00002
|
|
NM_052989.3(IFT122):c.1148-1G>C
|
rs755005244
|
0.00002
|
|
NM_052989.3(IFT122):c.1506G>C (p.Val502=)
|
rs754396913
|
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.2302G>A (p.Val768Met)
|
rs561825107
|
0.00002
|
|
NM_052989.3(IFT122):c.2393G>A (p.Arg798His)
|
rs755677495
|
0.00002
|
|
NM_052989.3(IFT122):c.2548-20T>A
|
rs764768307
|
0.00002
|
|
NM_052989.3(IFT122):c.2628T>C (p.Asp876=)
|
rs750912015
|
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.2668C>T (p.Arg890Ter)
|
rs1039467525
|
0.00002
|
|
NM_052989.3(IFT122):c.291A>G (p.Gln97=)
|
rs569507011
|
0.00002
|
|
NM_052989.3(IFT122):c.3047G>A (p.Arg1016Gln)
|
rs758998922
|
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.3154-9G>A
|
rs759975764
|
0.00002
|
|
NM_052989.3(IFT122):c.3228C>T (p.Asn1076=)
|
rs367891133
|
0.00002
|
|
NM_052989.3(IFT122):c.3233G>T (p.Arg1078Leu)
|
rs1269892119
|
0.00002
|
|
NM_052989.3(IFT122):c.3234C>T (p.Arg1078=)
|
rs781733102
|
0.00002
|
|
NM_052989.3(IFT122):c.3252C>T (p.Ser1084=)
|
rs775568842
|
0.00002
|
|
NM_052989.3(IFT122):c.3504G>C (p.Val1168=)
|
rs368239028
|
0.00002
|
|
NM_052989.3(IFT122):c.3677A>G (p.His1226Arg)
|
rs750154715
|
0.00002
|
|
NM_052989.3(IFT122):c.394A>G (p.Ser132Gly)
|
rs1048830398
|
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_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.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_014714.4(IFT140):c.2177C>T (p.Pro726Leu)
|
rs1417500285
|
0.00001
|
|
NM_016004.5(IFT52):c.293A>G (p.Asn98Ser)
|
rs530999984
|
0.00001
|
|
NM_016004.5(IFT52):c.424C>T (p.Arg142Ter)
|
rs748090019
|
0.00001
|
|
NM_016004.5(IFT52):c.595G>A (p.Ala199Thr)
|
rs886037869
|
0.00001
|
|
NM_020779.4(WDR35):c.*2228C>T
|
rs1669828408
|
0.00001
|
|
NM_020779.4(WDR35):c.*2288C>T
|
rs886055398
|
0.00001
|
|
NM_020779.4(WDR35):c.*2725G>T
|
rs886055396
|
0.00001
|
|
NM_020779.4(WDR35):c.*2726A>G
|
rs886055395
|
0.00001
|
|
NM_020779.4(WDR35):c.*2748G>T
|
rs886055394
|
0.00001
|
|
NM_020779.4(WDR35):c.*380G>A
|
rs886055401
|
0.00001
|
|
NM_020779.4(WDR35):c.*747C>T
|
rs1451842817
|
0.00001
|
|
NM_020779.4(WDR35):c.1009-18T>A
|
rs113816809
|
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.1104A>G (p.Lys368=)
|
rs745634789
|
0.00001
|
|
NM_020779.4(WDR35):c.1220T>C (p.Ile407Thr)
|
rs780584500
|
0.00001
|
|
NM_020779.4(WDR35):c.1276A>G (p.Thr426Ala)
|
rs1371644144
|
0.00001
|
|
NM_020779.4(WDR35):c.1310C>T (p.Ala437Val)
|
rs1671332812
|
0.00001
|
|
NM_020779.4(WDR35):c.1348A>C (p.Thr450Pro)
|
rs771656961
|
0.00001
|
|
NM_020779.4(WDR35):c.135G>A (p.Thr45=)
|
rs773319707
|
0.00001
|
|
NM_020779.4(WDR35):c.1374A>G (p.Thr458=)
|
rs778066578
|
0.00001
|
|
NM_020779.4(WDR35):c.1381C>T (p.Arg461Ter)
|
rs767751856
|
0.00001
|
|
NM_020779.4(WDR35):c.1446G>A (p.Val482=)
|
rs569920075
|
0.00001
|
|
NM_020779.4(WDR35):c.1468del (p.Gln490fs)
|
rs886044119
|
0.00001
|
|
NM_020779.4(WDR35):c.1470+6T>C
|
rs1162916086
|
0.00001
|
|
NM_020779.4(WDR35):c.1526G>T (p.Gly509Val)
|
rs398123536
|
0.00001
|
|
NM_020779.4(WDR35):c.1559T>C (p.Leu520Pro)
|
rs397515533
|
0.00001
|
|
NM_020779.4(WDR35):c.1662A>T (p.Gly554=)
|
rs767878828
|
0.00001
|
|
NM_020779.4(WDR35):c.1845+16G>A
|
rs376710057
|
0.00001
|
|
NM_020779.4(WDR35):c.1871T>G (p.Ile624Ser)
|
rs139252416
|
0.00001
|
|
NM_020779.4(WDR35):c.1930C>G (p.Pro644Ala)
|
rs758919526
|
0.00001
|
|
NM_020779.4(WDR35):c.1991G>A (p.Arg664Gln)
|
rs750367225
|
0.00001
|
|
NM_020779.4(WDR35):c.2157T>C (p.Phe719=)
|
rs755951192
|
0.00001
|
|
NM_020779.4(WDR35):c.2165G>A (p.Arg722His)
|
rs758991146
|
0.00001
|
|
NM_020779.4(WDR35):c.2194A>C (p.Lys732Gln)
|
rs748476979
|
0.00001
|
|
NM_020779.4(WDR35):c.2220C>T (p.Phe740=)
|
rs535522970
|
0.00001
|
|
NM_020779.4(WDR35):c.2267+9T>C
|
rs376307803
|
0.00001
|
|
NM_020779.4(WDR35):c.2268-11T>G
|
rs745664606
|
0.00001
|
|
NM_020779.4(WDR35):c.2298G>A (p.Leu766=)
|
rs1287745296
|
0.00001
|
|
NM_020779.4(WDR35):c.24+9C>T
|
rs754703472
|
0.00001
|
|
NM_020779.4(WDR35):c.2524C>T (p.Pro842Ser)
|
rs777217654
|
0.00001
|
|
NM_020779.4(WDR35):c.2590G>A (p.Ala864Thr)
|
rs267607175
|
0.00001
|
|
NM_020779.4(WDR35):c.2627C>G (p.Ala876Gly)
|
rs199849430
|
0.00001
|
|
NM_020779.4(WDR35):c.2672T>C (p.Val891Ala)
|
rs370706293
|
0.00001
|
|
NM_020779.4(WDR35):c.2691T>C (p.His897=)
|
rs1192258496
|
0.00001
|
|
NM_020779.4(WDR35):c.2739A>G (p.Leu913=)
|
rs774699751
|
0.00001
|
|
NM_020779.4(WDR35):c.2779C>T (p.Arg927Trp)
|
rs149815363
|
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.3195C>T (p.Cys1065=)
|
rs375805945
|
0.00001
|
|
NM_020779.4(WDR35):c.3207C>T (p.Ala1069=)
|
rs748710979
|
0.00001
|
|
NM_020779.4(WDR35):c.3363-9G>A
|
rs375053867
|
0.00001
|
|
NM_020779.4(WDR35):c.3412G>A (p.Glu1138Lys)
|
rs978909925
|
0.00001
|
|
NM_020779.4(WDR35):c.378C>T (p.Asp126=)
|
rs770081985
|
0.00001
|
|
NM_020779.4(WDR35):c.485T>C (p.Val162Ala)
|
rs754439440
|
0.00001
|
|
NM_020779.4(WDR35):c.626G>A (p.Gly209Glu)
|
rs1410550467
|
0.00001
|
|
NM_020779.4(WDR35):c.666T>A (p.Pro222=)
|
rs987346249
|
0.00001
|
|
NM_020779.4(WDR35):c.722A>G (p.His241Arg)
|
rs138366348
|
0.00001
|
|
NM_020779.4(WDR35):c.761T>C (p.Met254Thr)
|
rs547986777
|
0.00001
|
|
NM_020779.4(WDR35):c.847G>A (p.Val283Met)
|
rs576085633
|
0.00001
|
|
NM_020779.4(WDR35):c.976A>G (p.Ile326Val)
|
rs1438742194
|
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.1535G>A (p.Arg512Gln)
|
rs537283735
|
0.00001
|
|
NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter)
|
rs771148519
|
0.00001
|
|
NM_025132.4(WDR19):c.1841A>G (p.Tyr614Cys)
|
rs780273002
|
0.00001
|
|
NM_025132.4(WDR19):c.1932G>A (p.Thr644=)
|
rs886059398
|
0.00001
|
|
NM_025132.4(WDR19):c.1956G>C (p.Met652Ile)
|
rs746795141
|
0.00001
|
|
NM_025132.4(WDR19):c.1960G>A (p.Ala654Thr)
|
rs1024499799
|
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.2189C>T (p.Thr730Ile)
|
rs1157984983
|
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.291-12_291-11del
|
rs1324399102
|
0.00001
|
|
NM_025132.4(WDR19):c.3049T>G (p.Phe1017Val)
|
rs778689889
|
0.00001
|
|
NM_025132.4(WDR19):c.3068A>C (p.Tyr1023Ser)
|
rs759424617
|
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.3368G>A (p.Arg1123Gln)
|
rs764512369
|
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.42C>T (p.Gly14=)
|
rs531575276
|
0.00001
|
|
NM_025132.4(WDR19):c.56T>G (p.Phe19Cys)
|
rs1247231925
|
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.935T>C (p.Ile312Thr)
|
rs886059396
|
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.1067A>C (p.His356Pro)
|
rs1064796598
|
0.00001
|
|
NM_052989.3(IFT122):c.1147+10A>T
|
rs750848733
|
0.00001
|
|
NM_052989.3(IFT122):c.1170T>G (p.Leu390=)
|
rs1292603855
|
0.00001
|
|
NM_052989.3(IFT122):c.1190A>G (p.Tyr397Cys)
|
rs965712410
|
0.00001
|
|
NM_052989.3(IFT122):c.1367G>A (p.Cys456Tyr)
|
rs1335391766
|
0.00001
|
|
NM_052989.3(IFT122):c.1467A>G (p.Leu489=)
|
rs373424989
|
0.00001
|
|
NM_052989.3(IFT122):c.1483G>A (p.Gly495Arg)
|
rs397515568
|
0.00001
|
|
NM_052989.3(IFT122):c.1487A>G (p.Gln496Arg)
|
rs1203426032
|
0.00001
|
|
NM_052989.3(IFT122):c.1532T>C (p.Leu511Pro)
|
rs372355939
|
0.00001
|
|
NM_052989.3(IFT122):c.1590C>T (p.Ala530=)
|
rs755545448
|
0.00001
|
|
NM_052989.3(IFT122):c.1759C>T (p.Arg587Trp)
|
rs774723842
|
0.00001
|
|
NM_052989.3(IFT122):c.1851+5C>T
|
rs375595062
|
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.2055G>T (p.Lys685Asn)
|
rs779236550
|
0.00001
|
|
NM_052989.3(IFT122):c.2138A>G (p.Tyr713Cys)
|
rs1332128088
|
0.00001
|
|
NM_052989.3(IFT122):c.2223T>C (p.Ser741=)
|
rs764418590
|
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.2298C>T (p.Ala766=)
|
rs1007388408
|
0.00001
|
|
NM_052989.3(IFT122):c.2299G>A (p.Ala767Thr)
|
rs199856807
|
0.00001
|
|
NM_052989.3(IFT122):c.2403C>T (p.Asp801=)
|
rs779236068
|
0.00001
|
|
NM_052989.3(IFT122):c.2437A>G (p.Thr813Ala)
|
rs565504126
|
0.00001
|
|
NM_052989.3(IFT122):c.2482T>C (p.Tyr828His)
|
rs1298243007
|
0.00001
|
|
NM_052989.3(IFT122):c.2536C>T (p.Arg846Cys)
|
rs750010740
|
0.00001
|
|
NM_052989.3(IFT122):c.273-211dup
|
rs1559868678
|
0.00001
|
|
NM_052989.3(IFT122):c.2730G>A (p.Arg910=)
|
rs765560540
|
0.00001
|
|
NM_052989.3(IFT122):c.2878C>T (p.Arg960Cys)
|
rs765190529
|
0.00001
|
|
NM_052989.3(IFT122):c.2887-3C>T
|
rs773452716
|
0.00001
|
|
NM_052989.3(IFT122):c.2941C>T (p.Leu981=)
|
rs1578129875
|
0.00001
|
|
NM_052989.3(IFT122):c.3114T>G (p.Gly1038=)
|
rs769225639
|
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.3327C>A (p.Ser1109=)
|
rs1464353928
|
0.00001
|
|
NM_052989.3(IFT122):c.3446C>T (p.Pro1149Leu)
|
rs373326394
|
0.00001
|
|
NM_052989.3(IFT122):c.349+4C>T
|
rs753626217
|
0.00001
|
|
NM_052989.3(IFT122):c.3636+9C>T
|
rs765137728
|
0.00001
|
|
NM_052989.3(IFT122):c.410G>C (p.Cys137Ser)
|
rs1278478989
|
0.00001
|
|
NM_052989.3(IFT122):c.416+17C>T
|
rs773053690
|
0.00001
|
|
NM_052989.3(IFT122):c.444G>A (p.Ala148=)
|
rs772967589
|
0.00001
|
|
NM_052989.3(IFT122):c.645T>C (p.Pro215=)
|
rs146397021
|
0.00001
|
|
NM_052989.3(IFT122):c.748C>T (p.Arg250Cys)
|
rs373212863
|
0.00001
|
|
NM_052989.3(IFT122):c.832G>A (p.Ala278Thr)
|
rs773531126
|
0.00001
|
|
NM_052989.3(IFT122):c.877G>A (p.Glu293Lys)
|
rs775510906
|
0.00001
|
|
NC_000002.11:g.(?_20153575)_(20153759_?)del
|
|
|
|
NC_000002.11:g.(?_20188906)_(20189063_?)del
|
|
|
|
NC_000003.11:g.(?_129150344)_(129159234_?)dup
|
|
|
|
NC_000003.11:g.(?_129150344)_(129252561_?)dup
|
|
|
|
NC_000003.11:g.(?_129159174)_(129214470_?)del
|
|
|
|
NM_001006657.1(WDR35):c.*3299C>T
|
rs1669790644
|
|
|
NM_001006657.2(WDR35):c.1195-2A>T
|
|
|
|
NM_001006657.2(WDR35):c.1210dup (p.Glu404fs)
|
rs1327489348
|
|
|
NM_001006657.2(WDR35):c.1227G>A (p.Thr409=)
|
|
|
|
NM_001102564.3(IFT43):c.147+18dup
|
rs747593685
|
|
|
NM_001102564.3(IFT43):c.1A>G (p.Met1Val)
|
rs387907107
|
|
|
NM_001102564.3(IFT43):c.322G>A (p.Glu108Lys)
|
rs776120367
|
|
|
NM_001102564.3(IFT43):c.369-8del
|
rs536027245
|
|
|
NM_001102564.3(IFT43):c.91G>C (p.Ala31Pro)
|
rs1330242492
|
|
|
NM_014714.4(IFT140):c.3454-488_4182+2588dup
|
|
|
|
NM_016004.5(IFT52):c.556A>G (p.Thr186Ala)
|
rs1983651325
|
|
|
NM_016004.5(IFT52):c.695_699delinsCA (p.Ile232_Met233delinsThr)
|
rs1984074001
|
|
|
NM_016004.5(IFT52):c.878del (p.Leu293fs)
|
rs886037870
|
|
|
NM_020779.4(WDR35):c.*1005C>A
|
rs746476400
|
|
|
NM_020779.4(WDR35):c.*1270C>T
|
rs568999408
|
|
|
NM_020779.4(WDR35):c.*1461A>C
|
rs886055400
|
|
|
NM_020779.4(WDR35):c.*1637C>T
|
rs1669848389
|
|
|
NM_020779.4(WDR35):c.*16T>C
|
rs1669898811
|
|
|
NM_020779.4(WDR35):c.*1754C>G
|
rs1188052659
|
|
|
NM_020779.4(WDR35):c.*1934A>G
|
rs886055399
|
|
|
NM_020779.4(WDR35):c.*1960G>T
|
rs1669835588
|
|
|
NM_020779.4(WDR35):c.*2029GTCT[1]
|
rs566446459
|
|
|
NM_020779.4(WDR35):c.*2239G>A
|
rs1042042509
|
|
|
NM_020779.4(WDR35):c.*2341G>C
|
rs886055397
|
|
|
NM_020779.4(WDR35):c.*2629T>A
|
rs1001737898
|
|
|
NM_020779.4(WDR35):c.*271A>G
|
rs994131640
|
|
|
NM_020779.4(WDR35):c.*2962C>T
|
rs886055393
|
|
|
NM_020779.4(WDR35):c.*2990G>T
|
rs781556463
|
|
|
NM_020779.4(WDR35):c.*573A>T
|
rs140069324
|
|
|
NM_020779.4(WDR35):c.*635C>T
|
rs1669878199
|
|
|
NM_020779.4(WDR35):c.*978A>G
|
rs149444449
|
|
|
NM_020779.4(WDR35):c.*998A>G
|
rs530093062
|
|
|
NM_020779.4(WDR35):c.1008+10A>C
|
rs2103448400
|
|
|
NM_020779.4(WDR35):c.1008+13A>G
|
|
|
|
NM_020779.4(WDR35):c.100G>A (p.Glu34Lys)
|
rs1572375239
|
|
|
NM_020779.4(WDR35):c.1040C>A (p.Ala347Glu)
|
rs1228739567
|
|
|
NM_020779.4(WDR35):c.1058G>A (p.Arg353His)
|
|
|
|
NM_020779.4(WDR35):c.1058G>C (p.Arg353Pro)
|
rs76623454
|
|
|
NM_020779.4(WDR35):c.105T>C (p.Asp35=)
|
|
|
|
NM_020779.4(WDR35):c.1082G>T (p.Trp361Leu)
|
rs2103444974
|
|
|
NM_020779.4(WDR35):c.1101A>G (p.Glu367=)
|
|
|
|
NM_020779.4(WDR35):c.1140T>C (p.Thr380=)
|
rs202056608
|
|
|
NM_020779.4(WDR35):c.1194+10T>C
|
rs936831337
|
|
|
NM_020779.4(WDR35):c.1194+11C>T
|
|
|
|
NM_020779.4(WDR35):c.1194+18T>G
|
|
|
|
NM_020779.4(WDR35):c.1228C>T (p.Pro410Ser)
|
|
|
|
NM_020779.4(WDR35):c.1231T>G (p.Leu411Val)
|
rs1418266904
|
|
|
NM_020779.4(WDR35):c.1255+1G>C
|
rs371669862
|
|
|
NM_020779.4(WDR35):c.1270G>A (p.Ala424Thr)
|
|
|
|
NM_020779.4(WDR35):c.1301C>T (p.Ser434Leu)
|
rs368497711
|
|
|
NM_020779.4(WDR35):c.1302G>A (p.Ser434=)
|
|
|
|
NM_020779.4(WDR35):c.1322G>A (p.Trp441Ter)
|
|
|
|
NM_020779.4(WDR35):c.1354T>C (p.Leu452=)
|
|
|
|
NM_020779.4(WDR35):c.1366C>G (p.Gln456Glu)
|
|
|
|
NM_020779.4(WDR35):c.1392G>T (p.Gly464=)
|
rs1476590827
|
|
|
NM_020779.4(WDR35):c.1400+17A>G
|
|
|
|
NM_020779.4(WDR35):c.1400+6del
|
|
|
|
NM_020779.4(WDR35):c.1401-11C>A
|
|
|
|
NM_020779.4(WDR35):c.1401-11C>G
|
|
|
|
NM_020779.4(WDR35):c.141A>G (p.Thr47=)
|
|
|
|
NM_020779.4(WDR35):c.143-7G>A
|
|
|
|
NM_020779.4(WDR35):c.1471-19A>G
|
rs1671119977
|
|
|
NM_020779.4(WDR35):c.147T>C (p.Asp49=)
|
rs1672416502
|
|
|
NM_020779.4(WDR35):c.1503A>G (p.Ala501=)
|
|
|
|
NM_020779.4(WDR35):c.1524+11C>T
|
|
|
|
NM_020779.4(WDR35):c.1525-15A>C
|
rs2103417096
|
|
|
NM_020779.4(WDR35):c.1525-2A>T
|
|
|
|
NM_020779.4(WDR35):c.1527T>C (p.Gly509=)
|
|
|
|
NM_020779.4(WDR35):c.1528C>T (p.Arg510Cys)
|
rs1462353387
|
|
|
NM_020779.4(WDR35):c.1540A>G (p.Thr514Ala)
|
rs2103417008
|
|
|
NM_020779.4(WDR35):c.1554C>G (p.Tyr518Ter)
|
|
|
|
NM_020779.4(WDR35):c.1570G>A (p.Gly524Ser)
|
rs2103416923
|
|
|
NM_020779.4(WDR35):c.1609C>G (p.Gln537Glu)
|
rs1416766008
|
|
|
NM_020779.4(WDR35):c.1609C>T (p.Gln537Ter)
|
|
|
|
NM_020779.4(WDR35):c.1635-19C>T
|
|
|
|
NM_020779.4(WDR35):c.1654A>C (p.Ile552Leu)
|
|
|
|
NM_020779.4(WDR35):c.1674C>T (p.Phe558=)
|
|
|
|
NM_020779.4(WDR35):c.1698G>A (p.Thr566=)
|
rs773559585
|
|
|
NM_020779.4(WDR35):c.171_178del (p.Ser59fs)
|
|
|
|
NM_020779.4(WDR35):c.1732T>C (p.Leu578=)
|
|
|
|
NM_020779.4(WDR35):c.1753G>A (p.Val585Ile)
|
rs748998292
|
|
|
NM_020779.4(WDR35):c.1834T>C (p.Leu612=)
|
|
|
|
NM_020779.4(WDR35):c.1844A>G (p.Glu615Gly)
|
rs267607174
|
|
|
NM_020779.4(WDR35):c.1846-11dup
|
rs754138477
|
|
|
NM_020779.4(WDR35):c.1846-30_1848del
|
rs1553317813
|
|
|
NM_020779.4(WDR35):c.1846-5T>C
|
rs2103410724
|
|
|
NM_020779.4(WDR35):c.1846-7T>A
|
rs1479233566
|
|
|
NM_020779.4(WDR35):c.1860C>T (p.Thr620=)
|
rs1572333836
|
|
|
NM_020779.4(WDR35):c.1866A>G (p.Gly622=)
|
rs2103410659
|
|
|
NM_020779.4(WDR35):c.1901C>A (p.Ser634Tyr)
|
|
|
|
NM_020779.4(WDR35):c.1937A>G (p.His646Arg)
|
|
|
|
NM_020779.4(WDR35):c.1950T>C (p.Asp650=)
|
rs2103406174
|
|
|
NM_020779.4(WDR35):c.1954C>G (p.Leu652Val)
|
|
|
|
NM_020779.4(WDR35):c.1954_1955insAAAC (p.Leu652fs)
|
rs2103406171
|
|
|
NM_020779.4(WDR35):c.1994C>T (p.Ala665Val)
|
|
|
|
NM_020779.4(WDR35):c.2013A>C (p.Gly671=)
|
rs2103406014
|
|
|
NM_020779.4(WDR35):c.2029C>G (p.Gln677Glu)
|
rs775076264
|
|
|
NM_020779.4(WDR35):c.2063+7A>T
|
|
|
|
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp)
|
rs765513105
|
|
|
NM_020779.4(WDR35):c.2116C>A (p.Gln706Lys)
|
rs2103405475
|
|
|
NM_020779.4(WDR35):c.2129G>A (p.Arg710His)
|
rs370797645
|
|
|
NM_020779.4(WDR35):c.2129G>T (p.Arg710Leu)
|
rs370797645
|
|
|
NM_020779.4(WDR35):c.2135A>G (p.Lys712Arg)
|
|
|
|
NM_020779.4(WDR35):c.2149A>C (p.Ile717Leu)
|
rs144493712
|
|
|
NM_020779.4(WDR35):c.2154G>A (p.Lys718=)
|
rs2103405404
|
|
|
NM_020779.4(WDR35):c.2178A>G (p.Leu726=)
|
|
|
|
NM_020779.4(WDR35):c.2190A>G (p.Ser730=)
|
|
|
|
NM_020779.4(WDR35):c.2191A>G (p.Met731Val)
|
|
|
|
NM_020779.4(WDR35):c.2193G>C (p.Met731Ile)
|
|
|
|
NM_020779.4(WDR35):c.2202T>C (p.Ala734=)
|
|
|
|
NM_020779.4(WDR35):c.2213G>T (p.Gly738Val)
|
|
|
|
NM_020779.4(WDR35):c.2247G>T (p.Thr749=)
|
|
|
|
NM_020779.4(WDR35):c.2253C>T (p.Leu751=)
|
|
|
|
NM_020779.4(WDR35):c.2264G>C (p.Arg755Thr)
|
|
|
|
NM_020779.4(WDR35):c.2267+15C>T
|
rs1374046467
|
|
|
NM_020779.4(WDR35):c.2272C>G (p.Leu758Val)
|
rs1670697417
|
|
|
NM_020779.4(WDR35):c.2288G>A (p.Arg763Gln)
|
rs1670696748
|
|
|
NM_020779.4(WDR35):c.2356A>C (p.Ser786Arg)
|
rs748153278
|
|
|
NM_020779.4(WDR35):c.2358T>A (p.Ser786Arg)
|
|
|
|
NM_020779.4(WDR35):c.2385T>C (p.Ile795=)
|
|
|
|
NM_020779.4(WDR35):c.24+17dup
|
|
|
|
NM_020779.4(WDR35):c.24+4A>G
|
rs780961583
|
|
|
NM_020779.4(WDR35):c.2400T>C (p.Ala800=)
|
rs886055404
|
|
|
NM_020779.4(WDR35):c.2408A>G (p.Gln803Arg)
|
rs2103403345
|
|
|
NM_020779.4(WDR35):c.2430A>G (p.Gln810=)
|
|
|
|
NM_020779.4(WDR35):c.2446C>A (p.Arg816=)
|
rs374027943
|
|
|
NM_020779.4(WDR35):c.2455G>A (p.Glu819Lys)
|
rs768049606
|
|
|
NM_020779.4(WDR35):c.2488G>A (p.Asp830Asn)
|
|
|
|
NM_020779.4(WDR35):c.2492A>G (p.Tyr831Cys)
|
rs886055403
|
|
|
NM_020779.4(WDR35):c.25-17T>C
|
|
|
|
NM_020779.4(WDR35):c.2520A>G (p.Ser840=)
|
|
|
|
NM_020779.4(WDR35):c.2523T>C (p.Leu841=)
|
|
|
|
NM_020779.4(WDR35):c.2538G>A (p.Lys846=)
|
|
|
|
NM_020779.4(WDR35):c.2547+13A>C
|
|
|
|
NM_020779.4(WDR35):c.2547+9T>C
|
|
|
|
NM_020779.4(WDR35):c.2551A>G (p.Ile851Val)
|
|
|
|
NM_020779.4(WDR35):c.2559A>T (p.Gln853His)
|
|
|
|
NM_020779.4(WDR35):c.2568C>T (p.Val856=)
|
|
|
|
NM_020779.4(WDR35):c.2575G>C (p.Gly859Arg)
|
rs2103399882
|
|
|
NM_020779.4(WDR35):c.259A>T (p.Thr87Ser)
|
rs2103463081
|
|
|
NM_020779.4(WDR35):c.2622A>C (p.Pro874=)
|
rs766138190
|
|
|
NM_020779.4(WDR35):c.2622A>T (p.Pro874=)
|
|
|
|
NM_020779.4(WDR35):c.2638dup (p.Thr880fs)
|
rs2103399754
|
|
|
NM_020779.4(WDR35):c.2646A>G (p.Val882=)
|
|
|
|
NM_020779.4(WDR35):c.2658+14C>T
|
|
|
|
NM_020779.4(WDR35):c.2659-13A>T
|
|
|
|
NM_020779.4(WDR35):c.2681C>T (p.Ala894Val)
|
rs1670554390
|
|
|
NM_020779.4(WDR35):c.2701G>T (p.Glu901Ter)
|
|
|
|
NM_020779.4(WDR35):c.273A>G (p.Glu91=)
|
rs1558360162
|
|
|
NM_020779.4(WDR35):c.2746A>G (p.Lys916Glu)
|
rs2103398404
|
|
|
NM_020779.4(WDR35):c.2760T>A (p.Leu920=)
|
rs1405610639
|
|
|
NM_020779.4(WDR35):c.2798T>C (p.Phe933Ser)
|
rs2103398314
|
|
|
NM_020779.4(WDR35):c.2800G>A (p.Asp934Asn)
|
rs376786810
|
|
|
NM_020779.4(WDR35):c.2823+6_2823+298delinsAAA
|
|
|
|
NM_020779.4(WDR35):c.2823G>A (p.Lys941=)
|
rs2103398260
|
|
|
NM_020779.4(WDR35):c.2838G>A (p.Glu946=)
|
|
|
|
NM_020779.4(WDR35):c.2844G>A (p.Lys948=)
|
|
|
|
NM_020779.4(WDR35):c.2856A>G (p.Lys952=)
|
rs755843830
|
|
|
NM_020779.4(WDR35):c.2858del (p.Pro953fs)
|
rs397515334
|
|
|
NM_020779.4(WDR35):c.2874G>T (p.Lys958Asn)
|
rs1558328135
|
|
|
NM_020779.4(WDR35):c.288T>C (p.Ile96=)
|
|
|
|
NM_020779.4(WDR35):c.2913T>C (p.His971=)
|
rs561223092
|
|
|
NM_020779.4(WDR35):c.2956A>G (p.Ser986Gly)
|
rs886055402
|
|
|
NM_020779.4(WDR35):c.2960C>T (p.Ser987Leu)
|
rs750968053
|
|
|
NM_020779.4(WDR35):c.2964+13G>A
|
rs557213514
|
|
|
NM_020779.4(WDR35):c.2964+14T>A
|
|
|
|
NM_020779.4(WDR35):c.2964+17_2964+18delinsGG
|
|
|
|
NM_020779.4(WDR35):c.2965-20T>C
|
|
|
|
NM_020779.4(WDR35):c.2965-5C>T
|
|
|
|
NM_020779.4(WDR35):c.2968A>G (p.Thr990Ala)
|
rs1184414721
|
|
|
NM_020779.4(WDR35):c.2976del (p.Leu993fs)
|
rs1490771127
|
|
|
NM_020779.4(WDR35):c.297G>A (p.Met99Ile)
|
rs779065567
|
|
|
NM_020779.4(WDR35):c.297del (p.Met99fs)
|
rs867715686
|
|
|
NM_020779.4(WDR35):c.2980G>T (p.Ala994Ser)
|
|
|
|
NM_020779.4(WDR35):c.2993AAG[2] (p.Glu1000del)
|
rs746953019
|
|
|
NM_020779.4(WDR35):c.2994A>G (p.Glu998=)
|
rs2103396034
|
|
|
NM_020779.4(WDR35):c.3003T>A (p.Val1001=)
|
|
|
|
NM_020779.4(WDR35):c.3026C>T (p.Thr1009Ile)
|
rs201153804
|
|
|
NM_020779.4(WDR35):c.3034G>C (p.Ala1012Pro)
|
|
|
|
NM_020779.4(WDR35):c.3058C>T (p.His1020Tyr)
|
rs1553316264
|
|
|
NM_020779.4(WDR35):c.308G>C (p.Gly103Ala)
|
rs886055406
|
|
|
NM_020779.4(WDR35):c.30C>T (p.Ser10=)
|
rs1672670437
|
|
|
NM_020779.4(WDR35):c.3117G>T (p.Lys1039Asn)
|
|
|
|
NM_020779.4(WDR35):c.3121+10T>C
|
|
|
|
NM_020779.4(WDR35):c.3122-16G>C
|
|
|
|
NM_020779.4(WDR35):c.3162G>A (p.Val1054=)
|
rs2103378366
|
|
|
NM_020779.4(WDR35):c.3213G>A (p.Gly1071=)
|
|
|
|
NM_020779.4(WDR35):c.3267A>G (p.Glu1089=)
|
|
|
|
NM_020779.4(WDR35):c.3281A>G (p.Tyr1094Cys)
|
|
|
|
NM_020779.4(WDR35):c.3281A>T (p.Tyr1094Phe)
|
|
|
|
NM_020779.4(WDR35):c.3322A>G (p.Lys1108Glu)
|
|
|
|
NM_020779.4(WDR35):c.333C>T (p.Asn111=)
|
|
|
|
NM_020779.4(WDR35):c.3340G>A (p.Glu1114Lys)
|
rs2103378015
|
|
|
NM_020779.4(WDR35):c.3362+6C>T
|
|
|
|
NM_020779.4(WDR35):c.3363-10C>T
|
|
|
|
NM_020779.4(WDR35):c.3363-11C>A
|
rs2103377636
|
|
|
NM_020779.4(WDR35):c.3363-29_3363-18del
|
rs1270558293
|
|
|
NM_020779.4(WDR35):c.3385T>C (p.Cys1129Arg)
|
rs1558317812
|
|
|
NM_020779.4(WDR35):c.3396A>G (p.Thr1132=)
|
|
|
|
NM_020779.4(WDR35):c.3398G>A (p.Gly1133Glu)
|
rs1558317742
|
|
|
NM_020779.4(WDR35):c.3426G>T (p.Trp1142Cys)
|
rs1553313859
|
|
|
NM_020779.4(WDR35):c.3427A>T (p.Met1143Leu)
|
|
|
|
NM_020779.4(WDR35):c.3439T>C (p.Cys1147Arg)
|
|
|
|
NM_020779.4(WDR35):c.3448G>A (p.Gly1150Ser)
|
|
|
|
NM_020779.4(WDR35):c.3454C>T (p.Leu1152Phe)
|
|
|
|
NM_020779.4(WDR35):c.3455T>G (p.Leu1152Arg)
|
|
|
|
NM_020779.4(WDR35):c.3464A>C (p.Glu1155Ala)
|
rs1669900626
|
|
|
NM_020779.4(WDR35):c.367T>C (p.Trp123Arg)
|
|
|
|
NM_020779.4(WDR35):c.376G>A (p.Asp126Asn)
|
|
|
|
NM_020779.4(WDR35):c.436+18C>T
|
|
|
|
NM_020779.4(WDR35):c.436+4A>G
|
rs1672290200
|
|
|
NM_020779.4(WDR35):c.437-15_437-13del
|
|
|
|
NM_020779.4(WDR35):c.442C>T (p.Arg148Cys)
|
|
|
|
NM_020779.4(WDR35):c.489A>G (p.Thr163=)
|
|
|
|
NM_020779.4(WDR35):c.496G>A (p.Ala166Thr)
|
|
|
|
NM_020779.4(WDR35):c.497C>T (p.Ala166Val)
|
rs374556044
|
|
|
NM_020779.4(WDR35):c.498G>A (p.Ala166=)
|
|
|
|
NM_020779.4(WDR35):c.504T>A (p.Ser168Arg)
|
rs397515536
|
|
|
NM_020779.4(WDR35):c.570+20A>G
|
|
|
|
NM_020779.4(WDR35):c.570+2T>G
|
|
|
|
NM_020779.4(WDR35):c.570+7_570+10del
|
|
|
|
NM_020779.4(WDR35):c.571-16A>G
|
|
|
|
NM_020779.4(WDR35):c.571-3del
|
|
|
|
NM_020779.4(WDR35):c.613A>G (p.Ile205Val)
|
|
|
|
NM_020779.4(WDR35):c.629T>C (p.Ile210Thr)
|
|
|
|
NM_020779.4(WDR35):c.658G>T (p.Val220Leu)
|
|
|
|
NM_020779.4(WDR35):c.664C>G (p.Pro222Ala)
|
rs1553322982
|
|
|
NM_020779.4(WDR35):c.717G>A (p.Met239Ile)
|
|
|
|
NM_020779.4(WDR35):c.732C>T (p.Asp244=)
|
|
|
|
NM_020779.4(WDR35):c.81G>A (p.Gly27=)
|
rs1303835293
|
|
|
NM_020779.4(WDR35):c.837G>C (p.Gln279His)
|
rs764069624
|
|
|
NM_020779.4(WDR35):c.872C>T (p.Pro291Leu)
|
|
|
|
NM_020779.4(WDR35):c.873G>A (p.Pro291=)
|
|
|
|
NM_020779.4(WDR35):c.882+10T>A
|
|
|
|
NM_020779.4(WDR35):c.883-12T>G
|
rs1393592663
|
|
|
NM_020779.4(WDR35):c.883-14A>T
|
|
|
|
NM_020779.4(WDR35):c.90A>G (p.Ala30=)
|
|
|
|
NM_020779.4(WDR35):c.920C>T (p.Ser307Phe)
|
|
|
|
NM_020779.4(WDR35):c.946C>T (p.Leu316=)
|
rs1671968631
|
|
|
NM_025132.3(WDR19):c.-59dup
|
rs558898928
|
|
|
NM_025132.4(WDR19):c.*124T>G
|
rs1737119800
|
|
|
NM_025132.4(WDR19):c.*184T>G
|
rs886059405
|
|
|
NM_025132.4(WDR19):c.*293_*296dup
|
rs374474677
|
|
|
NM_025132.4(WDR19):c.*83G>C
|
rs111976533
|
|
|
NM_025132.4(WDR19):c.1234G>A (p.Val412Ile)
|
rs1729054259
|
|
|
NM_025132.4(WDR19):c.1293C>T (p.Ala431=)
|
rs886059397
|
|
|
NM_025132.4(WDR19):c.1434C>G (p.Ile478Met)
|
rs886039814
|
|
|
NM_025132.4(WDR19):c.1462C>T (p.Leu488Phe)
|
rs1560503998
|
|
|
NM_025132.4(WDR19):c.171T>C (p.Cys57=)
|
rs1483597668
|
|
|
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.198A>T (p.Gly66=)
|
rs749815295
|
|
|
NM_025132.4(WDR19):c.2059C>T (p.His687Tyr)
|
rs1577943727
|
|
|
NM_025132.4(WDR19):c.2218T>C (p.Tyr740His)
|
rs886059399
|
|
|
NM_025132.4(WDR19):c.2251G>A (p.Glu751Lys)
|
rs1730954326
|
|
|
NM_025132.4(WDR19):c.2364-4del
|
rs750106753
|
|
|
NM_025132.4(WDR19):c.2429A>G (p.Asp810Gly)
|
rs886059400
|
|
|
NM_025132.4(WDR19):c.2430T>G (p.Asp810Glu)
|
rs1375996391
|
|
|
NM_025132.4(WDR19):c.2485C>T (p.Arg829Ter)
|
rs775181779
|
|
|
NM_025132.4(WDR19):c.2601_2602dup (p.Tyr868fs)
|
rs1421636172
|
|
|
NM_025132.4(WDR19):c.2645+1G>T
|
rs1237821935
|
|
|
NM_025132.4(WDR19):c.2646-16G>T
|
rs750485530
|
|
|
NM_025132.4(WDR19):c.2782A>T (p.Ile928Phe)
|
rs780963454
|
|
|
NM_025132.4(WDR19):c.2872G>C (p.Ala958Pro)
|
rs1057523257
|
|
|
NM_025132.4(WDR19):c.2876+10T>A
|
rs773692164
|
|
|
NM_025132.4(WDR19):c.2887C>T (p.Gln963Ter)
|
|
|
|
NM_025132.4(WDR19):c.3307C>T (p.Arg1103Ter)
|
rs387906981
|
|
|
NM_025132.4(WDR19):c.3319C>T (p.Gln1107Ter)
|
rs1401145684
|
|
|
NM_025132.4(WDR19):c.3358+15C>T
|
rs750722358
|
|
|
NM_025132.4(WDR19):c.3439A>G (p.Met1147Val)
|
rs886059401
|
|
|
NM_025132.4(WDR19):c.3602G>A (p.Cys1201Tyr)
|
rs886059402
|
|
|
NM_025132.4(WDR19):c.3659C>T (p.Pro1220Leu)
|
rs1735748675
|
|
|
NM_025132.4(WDR19):c.3775C>A (p.Leu1259Ile)
|
rs886059403
|
|
|
NM_025132.4(WDR19):c.3951T>C (p.Cys1317=)
|
rs564992065
|
|
|
NM_025132.4(WDR19):c.513G>T (p.Thr171=)
|
rs754543019
|
|
|
NM_025132.4(WDR19):c.6+6_6+8del
|
rs748952637
|
|
|
NM_025132.4(WDR19):c.641dup (p.Leu214fs)
|
rs587777348
|
|
|
NM_025132.4(WDR19):c.750A>T (p.Ser250=)
|
rs886059395
|
|
|
NM_025132.4(WDR19):c.814C>T (p.Arg272Cys)
|
rs199812132
|
|
|
NM_025132.4(WDR19):c.956del (p.Asn319fs)
|
rs2109322891
|
|
|
NM_025132.4(WDR19):c.961+2T>C
|
rs1728876351
|
|
|
NM_025132.4(WDR19):c.98+5G>T
|
|
|
|
NM_025132.4(WDR19):c.[291-21A>G];[542C>G]
|
|
|
|
NM_052989.3(IFT122):c.*121G>T
|
rs536919948
|
|
|
NM_052989.3(IFT122):c.*142C>G
|
rs977256057
|
|
|
NM_052989.3(IFT122):c.*241C>G
|
rs2084614746
|
|
|
NM_052989.3(IFT122):c.-22C>A
|
rs551140180
|
|
|
NM_052989.3(IFT122):c.1008+17T>G
|
rs2077967767
|
|
|
NM_052989.3(IFT122):c.1008+3A>C
|
|
|
|
NM_052989.3(IFT122):c.1008+9A>G
|
|
|
|
NM_052989.3(IFT122):c.1009-5C>T
|
|
|
|
NM_052989.3(IFT122):c.1044C>T (p.Tyr348=)
|
|
|
|
NM_052989.3(IFT122):c.108+10dup
|
|
|
|
NM_052989.3(IFT122):c.108+15T>C
|
|
|
|
NM_052989.3(IFT122):c.108+4G>A
|
rs1559838129
|
|
|
NM_052989.3(IFT122):c.1088A>G (p.Tyr363Cys)
|
|
|
|
NM_052989.3(IFT122):c.109-10C>T
|
rs2107928880
|
|
|
NM_052989.3(IFT122):c.109-14G>C
|
|
|
|
NM_052989.3(IFT122):c.109-7T>C
|
|
|
|
NM_052989.3(IFT122):c.1128C>T (p.His376=)
|
|
|
|
NM_052989.3(IFT122):c.1141C>T (p.Gln381Ter)
|
|
|
|
NM_052989.3(IFT122):c.1147+12_1147+17del
|
|
|
|
NM_052989.3(IFT122):c.1168C>T (p.Leu390Phe)
|
rs2108292713
|
|
|
NM_052989.3(IFT122):c.1188C>T (p.Ile396=)
|
rs1030774694
|
|
|
NM_052989.3(IFT122):c.1198C>T (p.Arg400Ter)
|
|
|
|
NM_052989.3(IFT122):c.1199G>A (p.Arg400Gln)
|
rs1405512091
|
|
|
NM_052989.3(IFT122):c.1220A>G (p.Glu407Gly)
|
|
|
|
NM_052989.3(IFT122):c.1275G>A (p.Arg425=)
|
rs2108293656
|
|
|
NM_052989.3(IFT122):c.127G>A (p.Gly43Ser)
|
|
|
|
NM_052989.3(IFT122):c.1288A>G (p.Ile430Val)
|
|
|
|
NM_052989.3(IFT122):c.132C>G (p.Thr44=)
|
rs371772807
|
|
|
NM_052989.3(IFT122):c.1331A>G (p.Asn444Ser)
|
|
|
|
NM_052989.3(IFT122):c.1350+20A>G
|
|
|
|
NM_052989.3(IFT122):c.1353G>T (p.Glu451Asp)
|
|
|
|
NM_052989.3(IFT122):c.1367G>T (p.Cys456Phe)
|
rs1335391766
|
|
|
NM_052989.3(IFT122):c.1372T>G (p.Ser458Ala)
|
|
|
|
NM_052989.3(IFT122):c.1378A>T (p.Ser460Cys)
|
rs1577642330
|
|
|
NM_052989.3(IFT122):c.1393C>A (p.Arg465=)
|
|
|
|
NM_052989.3(IFT122):c.1394G>A (p.Arg465Gln)
|
|
|
|
NM_052989.3(IFT122):c.1410G>A (p.Glu470=)
|
|
|
|
NM_052989.3(IFT122):c.1411T>G (p.Ser471Ala)
|
|
|
|
NM_052989.3(IFT122):c.1432dup (p.Val478fs)
|
rs2108311256
|
|
|
NM_052989.3(IFT122):c.1461C>A (p.Gly487=)
|
|
|
|
NM_052989.3(IFT122):c.1488+16C>A
|
rs371107052
|
|
|
NM_052989.3(IFT122):c.1488+16C>T
|
|
|
|
NM_052989.3(IFT122):c.1488+19C>A
|
|
|
|
NM_052989.3(IFT122):c.1488G>A (p.Gln496=)
|
rs2078432243
|
|
|
NM_052989.3(IFT122):c.1489-17C>T
|
|
|
|
NM_052989.3(IFT122):c.1493T>C (p.Leu498Pro)
|
rs2108328020
|
|
|
NM_052989.3(IFT122):c.1505T>G (p.Val502Gly)
|
rs267607191
|
|
|
NM_052989.3(IFT122):c.1511A>G (p.Asn504Ser)
|
|
|
|
NM_052989.3(IFT122):c.1552C>T (p.Arg518Cys)
|
|
|
|
NM_052989.3(IFT122):c.1570G>A (p.Ala524Thr)
|
rs2078655875
|
|
|
NM_052989.3(IFT122):c.1572C>G (p.Ala524=)
|
|
|
|
NM_052989.3(IFT122):c.1590C>A (p.Ala530=)
|
rs755545448
|
|
|
NM_052989.3(IFT122):c.1591G>A (p.Val531Met)
|
|
|
|
NM_052989.3(IFT122):c.1600G>A (p.Glu534Lys)
|
|
|
|
NM_052989.3(IFT122):c.1634C>G (p.Thr545Ser)
|
|
|
|
NM_052989.3(IFT122):c.1644G>T (p.Leu548=)
|
rs1211494967
|
|
|
NM_052989.3(IFT122):c.1654-16T>C
|
rs2078911744
|
|
|
NM_052989.3(IFT122):c.1654-20C>G
|
rs774202017
|
|
|
NM_052989.3(IFT122):c.1659A>G (p.Pro553=)
|
|
|
|
NM_052989.3(IFT122):c.1704C>G (p.Leu568=)
|
|
|
|
NM_052989.3(IFT122):c.1713G>T (p.Ser571=)
|
rs150174636
|
|
|
NM_052989.3(IFT122):c.1715G>T (p.Gly572Val)
|
rs786205566
|
|
|
NM_052989.3(IFT122):c.1726C>T (p.Leu576Phe)
|
|
|
|
NM_052989.3(IFT122):c.172T>C (p.Cys58Arg)
|
rs2074912574
|
|
|
NM_052989.3(IFT122):c.1758C>T (p.His586=)
|
|
|
|
NM_052989.3(IFT122):c.1785C>T (p.Val595=)
|
|
|
|
NM_052989.3(IFT122):c.1787G>T (p.Gly596Val)
|
|
|
|
NM_052989.3(IFT122):c.1793A>G (p.Asn598Ser)
|
|
|
|
NM_052989.3(IFT122):c.1800C>T (p.Ser600=)
|
rs886057965
|
|
|
NM_052989.3(IFT122):c.180A>G (p.Ala60=)
|
|
|
|
NM_052989.3(IFT122):c.1828A>G (p.Ile610Val)
|
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|
NM_052989.3(IFT122):c.1836C>T (p.Ala612=)
|
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|
NM_052989.3(IFT122):c.1848G>A (p.Pro616=)
|
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|
NM_052989.3(IFT122):c.1851+3A>G
|
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|
NM_052989.3(IFT122):c.1852-11A>C
|
|
|
|
NM_052989.3(IFT122):c.1852-13T>C
|
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|
NM_052989.3(IFT122):c.1852-14A>G
|
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NM_052989.3(IFT122):c.1852-8T>C
|
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|
|
NM_052989.3(IFT122):c.185C>T (p.Ala62Val)
|
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|
|
NM_052989.3(IFT122):c.1862T>G (p.Met621Arg)
|
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|
NM_052989.3(IFT122):c.1868A>G (p.Gln623Arg)
|
|
|
|
NM_052989.3(IFT122):c.186G>A (p.Ala62=)
|
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|
|
NM_052989.3(IFT122):c.1884A>T (p.Lys628Asn)
|
rs777051654
|
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|
NM_052989.3(IFT122):c.1890C>G (p.Phe630Leu)
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|
NM_052989.3(IFT122):c.1892A>G (p.Lys631Arg)
|
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|
|
NM_052989.3(IFT122):c.189G>A (p.Lys63=)
|
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|
NM_052989.3(IFT122):c.1903C>G (p.Gln635Glu)
|
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|
NM_052989.3(IFT122):c.1915T>C (p.Leu639=)
|
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|
NM_052989.3(IFT122):c.194-17T>C
|
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NM_052989.3(IFT122):c.194-4T>C
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NM_052989.3(IFT122):c.1950C>G (p.Ala650=)
|
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NM_052989.3(IFT122):c.1959G>A (p.Ala653=)
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NM_052989.3(IFT122):c.1963del (p.Glu655fs)
|
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NM_052989.3(IFT122):c.197A>C (p.Lys66Thr)
|
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|
|
NM_052989.3(IFT122):c.1992+10T>C
|
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|
NM_052989.3(IFT122):c.1992+17C>T
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|
NM_052989.3(IFT122):c.1992G>A (p.Lys664=)
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|
NM_052989.3(IFT122):c.1993-11C>A
|
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NM_052989.3(IFT122):c.1993-7G>A
|
rs2285354
|
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NM_052989.3(IFT122):c.1993-7G>C
|
rs2285354
|
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NM_052989.3(IFT122):c.1993-8_1993-7delinsTC
|
rs2108448349
|
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NM_052989.3(IFT122):c.199C>A (p.Arg67Ser)
|
rs181971625
|
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NM_052989.3(IFT122):c.199C>T (p.Arg67Cys)
|
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|
NM_052989.3(IFT122):c.2063G>A (p.Gly688Glu)
|
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NM_052989.3(IFT122):c.2087T>G (p.Leu696Arg)
|
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|
|
NM_052989.3(IFT122):c.2121T>C (p.His707=)
|
rs763504971
|
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NM_052989.3(IFT122):c.2127C>T (p.Ala709=)
|
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|
NM_052989.3(IFT122):c.2148T>C (p.Ser716=)
|
rs2108483305
|
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NM_052989.3(IFT122):c.2163C>T (p.Leu721=)
|
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|
NM_052989.3(IFT122):c.2165C>T (p.Ala722Val)
|
rs143662777
|
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NM_052989.3(IFT122):c.2181C>T (p.Thr727=)
|
rs545131069
|
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NM_052989.3(IFT122):c.21G>C (p.Trp7Cys)
|
rs267607193
|
|
|
NM_052989.3(IFT122):c.2208+7T>C
|
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|
NM_052989.3(IFT122):c.2226A>T (p.Gly742=)
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NM_052989.3(IFT122):c.2232C>T (p.Pro744=)
|
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|
NM_052989.3(IFT122):c.2233A>G (p.Lys745Glu)
|
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|
NM_052989.3(IFT122):c.2285del (p.Lys762fs)
|
rs2081339145
|
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|
NM_052989.3(IFT122):c.2301C>G (p.Ala767=)
|
rs540474261
|
|
|
NM_052989.3(IFT122):c.2301C>T (p.Ala767=)
|
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|
|
NM_052989.3(IFT122):c.2303T>C (p.Val768Ala)
|
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|
NM_052989.3(IFT122):c.2304G>A (p.Val768=)
|
rs886057966
|
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|
NM_052989.3(IFT122):c.2306A>G (p.Glu769Gly)
|
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|
NM_052989.3(IFT122):c.2309T>G (p.Met770Arg)
|
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|
NM_052989.3(IFT122):c.2313C>A (p.Tyr771Ter)
|
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NM_052989.3(IFT122):c.231TAT[1] (p.Ile79del)
|
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|
NM_052989.3(IFT122):c.2331C>T (p.His777=)
|
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|
|
NM_052989.3(IFT122):c.2332G>T (p.Val778Phe)
|
rs139943115
|
|
|
NM_052989.3(IFT122):c.2375+14C>T
|
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|
NM_052989.3(IFT122):c.2375+2T>C
|
rs786205567
|
|
|
NM_052989.3(IFT122):c.2384A>C (p.Asp795Ala)
|
|
|
|
NM_052989.3(IFT122):c.2388C>T (p.Ile796=)
|
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|
NM_052989.3(IFT122):c.2392C>T (p.Arg798Cys)
|
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|
|
NM_052989.3(IFT122):c.2409T>C (p.Ala803=)
|
|
|
|
NM_052989.3(IFT122):c.2430G>A (p.Leu810=)
|
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|
|
NM_052989.3(IFT122):c.2452C>T (p.Leu818=)
|
|
|
|
NM_052989.3(IFT122):c.2454G>A (p.Leu818=)
|
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|
NM_052989.3(IFT122):c.2465G>T (p.Gly822Val)
|
|
|
|
NM_052989.3(IFT122):c.2496T>C (p.Gly832=)
|
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|
|
NM_052989.3(IFT122):c.2501T>C (p.Leu834Pro)
|
|
|
|
NM_052989.3(IFT122):c.2512G>C (p.Val838Leu)
|
|
|
|
NM_052989.3(IFT122):c.2523C>T (p.His841=)
|
rs780586191
|
|
|
NM_052989.3(IFT122):c.2537G>A (p.Arg846His)
|
rs370415289
|
|
|
NM_052989.3(IFT122):c.2548-11C>T
|
|
|
|
NM_052989.3(IFT122):c.2548-18A>G
|
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|
NM_052989.3(IFT122):c.2548-19C>A
|
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|
|
NM_052989.3(IFT122):c.2548-19C>T
|
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|
|
NM_052989.3(IFT122):c.2559G>A (p.Leu853=)
|
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|
|
NM_052989.3(IFT122):c.2568G>A (p.Lys856=)
|
|
|
|
NM_052989.3(IFT122):c.2575G>C (p.Glu859Gln)
|
rs2081966365
|
|
|
NM_052989.3(IFT122):c.2588A>G (p.Asp863Gly)
|
|
|
|
NM_052989.3(IFT122):c.2601G>A (p.Pro867=)
|
|
|
|
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+20A>C
|
rs148941657
|
|
|
NM_052989.3(IFT122):c.2650+20A>G
|
|
|
|
NM_052989.3(IFT122):c.2652G>T (p.Ala884=)
|
|
|
|
NM_052989.3(IFT122):c.2672A>G (p.Gln891Arg)
|
rs2082199852
|
|
|
NM_052989.3(IFT122):c.2683G>A (p.Val895Ile)
|
|
|
|
NM_052989.3(IFT122):c.2705_2706del (p.Thr902fs)
|
|
|
|
NM_052989.3(IFT122):c.272+14G>T
|
|
|
|
NM_052989.3(IFT122):c.2724G>A (p.Glu908=)
|
|
|
|
NM_052989.3(IFT122):c.273-16G>C
|
|
|
|
NM_052989.3(IFT122):c.273-212C>T
|
|
|
|
NM_052989.3(IFT122):c.273-245C>T
|
|
|
|
NM_052989.3(IFT122):c.273-257C>A
|
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|
|
NM_052989.3(IFT122):c.273-266G>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
|
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|
NM_052989.3(IFT122):c.273-323C>T
|
|
|
|
NM_052989.3(IFT122):c.273-334T>G
|
|
|
|
NM_052989.3(IFT122):c.273-341dup
|
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|
|
NM_052989.3(IFT122):c.273-374_273-369dup
|
|
|
|
NM_052989.3(IFT122):c.273-388T>A
|
rs1009331489
|
|
|
NM_052989.3(IFT122):c.2777T>C (p.Leu926Pro)
|
|
|
|
NM_052989.3(IFT122):c.2778C>T (p.Leu926=)
|
|
|
|
NM_052989.3(IFT122):c.2783T>A (p.Ile928Lys)
|
rs747428443
|
|
|
NM_052989.3(IFT122):c.2792-12T>A
|
|
|
|
NM_052989.3(IFT122):c.2792-13C>T
|
|
|
|
NM_052989.3(IFT122):c.2792-14G>A
|
|
|
|
NM_052989.3(IFT122):c.2798C>A (p.Ala933Asp)
|
rs747843863
|
|
|
NM_052989.3(IFT122):c.2799C>T (p.Ala933=)
|
|
|
|
NM_052989.3(IFT122):c.2812A>G (p.Met938Val)
|
|
|
|
NM_052989.3(IFT122):c.2835C>G (p.Phe945Leu)
|
|
|
|
NM_052989.3(IFT122):c.2876A>G (p.His959Arg)
|
|
|
|
NM_052989.3(IFT122):c.2881C>G (p.His961Asp)
|
rs1178500227
|
|
|
NM_052989.3(IFT122):c.2886+19C>T
|
|
|
|
NM_052989.3(IFT122):c.2886G>A (p.Thr962=)
|
|
|
|
NM_052989.3(IFT122):c.2887-15T>A
|
|
|
|
NM_052989.3(IFT122):c.2888A>G (p.Glu963Gly)
|
|
|
|
NM_052989.3(IFT122):c.2894C>T (p.Pro965Leu)
|
|
|
|
NM_052989.3(IFT122):c.2901T>G (p.Ser967Arg)
|
|
|
|
NM_052989.3(IFT122):c.2903T>G (p.Val968Gly)
|
|
|
|
NM_052989.3(IFT122):c.2909G>A (p.Arg970His)
|
|
|
|
NM_052989.3(IFT122):c.2913T>C (p.Pro971=)
|
|
|
|
NM_052989.3(IFT122):c.2943G>A (p.Leu981=)
|
|
|
|
NM_052989.3(IFT122):c.2970C>T (p.Pro990=)
|
|
|
|
NM_052989.3(IFT122):c.2972C>T (p.Ser991Leu)
|
|
|
|
NM_052989.3(IFT122):c.2987+17C>A
|
|
|
|
NM_052989.3(IFT122):c.2987+17C>G
|
|
|
|
NM_052989.3(IFT122):c.2988-5G>A
|
|
|
|
NM_052989.3(IFT122):c.2999T>G (p.Phe1000Cys)
|
|
|
|
NM_052989.3(IFT122):c.299C>T (p.Ser100Phe)
|
|
|
|
NM_052989.3(IFT122):c.3003C>G (p.Thr1001=)
|
|
|
|
NM_052989.3(IFT122):c.3013C>T (p.Gln1005Ter)
|
|
|
|
NM_052989.3(IFT122):c.3027C>A (p.Leu1009=)
|
|
|
|
NM_052989.3(IFT122):c.3049C>A (p.His1017Asn)
|
rs900548596
|
|
|
NM_052989.3(IFT122):c.304A>C (p.Asn102His)
|
|
|
|
NM_052989.3(IFT122):c.3051C>T (p.His1017=)
|
rs538635135
|
|
|
NM_052989.3(IFT122):c.3067C>T (p.Arg1023Cys)
|
|
|
|
NM_052989.3(IFT122):c.3076_3079delinsG (p.Tyr1026_Ile1027delinsVal)
|
rs2083230922
|
|
|
NM_052989.3(IFT122):c.3076_3080delinsGTA (p.Tyr1026fs)
|
|
|
|
NM_052989.3(IFT122):c.3088A>G (p.Arg1030Gly)
|
|
|
|
NM_052989.3(IFT122):c.3115A>G (p.Thr1039Ala)
|
|
|
|
NM_052989.3(IFT122):c.3123C>T (p.Thr1041=)
|
|
|
|
NM_052989.3(IFT122):c.3124A>G (p.Ile1042Val)
|
|
|
|
NM_052989.3(IFT122):c.3127C>T (p.Arg1043Cys)
|
rs555281580
|
|
|
NM_052989.3(IFT122):c.3147C>T (p.Asp1049=)
|
|
|
|
NM_052989.3(IFT122):c.3154-12G>A
|
|
|
|
NM_052989.3(IFT122):c.3154-15G>T
|
|
|
|
NM_052989.3(IFT122):c.3175C>T (p.Arg1059Cys)
|
|
|
|
NM_052989.3(IFT122):c.3180C>A (p.Cys1060Ter)
|
|
|
|
NM_052989.3(IFT122):c.3192C>T (p.Asn1064=)
|
|
|
|
NM_052989.3(IFT122):c.3195G>A (p.Pro1065=)
|
|
|
|
NM_052989.3(IFT122):c.3240C>T (p.Pro1080=)
|
|
|
|
NM_052989.3(IFT122):c.3255C>T (p.Ala1085=)
|
|
|
|
NM_052989.3(IFT122):c.3265+5G>A
|
|
|
|
NM_052989.3(IFT122):c.3265+8C>G
|
|
|
|
NM_052989.3(IFT122):c.3266-11A>G
|
|
|
|
NM_052989.3(IFT122):c.3268G>T (p.Val1090Leu)
|
|
|
|
NM_052989.3(IFT122):c.3308C>G (p.Thr1103Ser)
|
|
|
|
NM_052989.3(IFT122):c.3316G>A (p.Glu1106Lys)
|
|
|
|
NM_052989.3(IFT122):c.3318A>G (p.Glu1106=)
|
|
|
|
NM_052989.3(IFT122):c.3359G>A (p.Arg1120Gln)
|
|
|
|
NM_052989.3(IFT122):c.3373C>G (p.Leu1125Val)
|
|
|
|
NM_052989.3(IFT122):c.3378G>A (p.Glu1126=)
|
|
|
|
NM_052989.3(IFT122):c.3381T>C (p.Ile1127=)
|
|
|
|
NM_052989.3(IFT122):c.3384A>T (p.Ala1128=)
|
|
|
|
NM_052989.3(IFT122):c.3391+6C>T
|
rs2084139065
|
|
|
NM_052989.3(IFT122):c.3392-4C>G
|
|
|
|
NM_052989.3(IFT122):c.3392-5T>G
|
rs2108728720
|
|
|
NM_052989.3(IFT122):c.3392-6C>T
|
|
|
|
NM_052989.3(IFT122):c.3400A>G (p.Ile1134Val)
|
rs754333037
|
|
|
NM_052989.3(IFT122):c.3404T>C (p.Leu1135Pro)
|
rs1251905610
|
|
|
NM_052989.3(IFT122):c.3426_3430del (p.Ser1143fs)
|
rs1299632365
|
|
|
NM_052989.3(IFT122):c.3431_3432delinsCT (p.Ile1144Thr)
|
|
|
|
NM_052989.3(IFT122):c.3471+13C>T
|
|
|
|
NM_052989.3(IFT122):c.3471+7G>T
|
|
|
|
NM_052989.3(IFT122):c.3471+7_3471+34del
|
rs762356612
|
|
|
NM_052989.3(IFT122):c.3472-19C>A
|
|
|
|
NM_052989.3(IFT122):c.347_348del (p.Phe116fs)
|
|
|
|
NM_052989.3(IFT122):c.348T>C (p.Phe116=)
|
|
|
|
NM_052989.3(IFT122):c.349+1G>A
|
rs1559869525
|
|
|
NM_052989.3(IFT122):c.3490G>A (p.Val1164Met)
|
|
|
|
NM_052989.3(IFT122):c.350-9G>A
|
|
|
|
NM_052989.3(IFT122):c.3504G>A (p.Val1168=)
|
|
|
|
NM_052989.3(IFT122):c.3506G>C (p.Ser1169Thr)
|
|
|
|
NM_052989.3(IFT122):c.3509G>A (p.Arg1170Gln)
|
|
|
|
NM_052989.3(IFT122):c.3520C>T (p.Arg1174Cys)
|
|
|
|
NM_052989.3(IFT122):c.3536G>A (p.Arg1179Gln)
|
rs766429633
|
|
|
NM_052989.3(IFT122):c.3553C>T (p.Arg1185Ter)
|
|
|
|
NM_052989.3(IFT122):c.3563del (p.Pro1188fs)
|
|
|
|
NM_052989.3(IFT122):c.356G>A (p.Trp119Ter)
|
|
|
|
NM_052989.3(IFT122):c.3575G>A (p.Trp1192Ter)
|
|
|
|
NM_052989.3(IFT122):c.3586C>T (p.Arg1196Cys)
|
rs201590142
|
|
|
NM_052989.3(IFT122):c.3586del (p.Arg1196fs)
|
rs1560036538
|
|
|
NM_052989.3(IFT122):c.3616A>G (p.Met1206Val)
|
|
|
|
NM_052989.3(IFT122):c.3630C>T (p.Cys1210=)
|
|
|
|
NM_052989.3(IFT122):c.3636+3A>G
|
rs753825998
|
|
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NM_052989.3(IFT122):c.3637-11T>C
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NM_052989.3(IFT122):c.3637-13T>C
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rs2084584710
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NM_052989.3(IFT122):c.3681C>T (p.Gly1227=)
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NM_052989.3(IFT122):c.3711T>C (p.Asp1237=)
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rs2084594582
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NM_052989.3(IFT122):c.3723A>C (p.Pro1241=)
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NM_052989.3(IFT122):c.3726A>G (p.Ter1242Trp)
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rs2108740086
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NM_052989.3(IFT122):c.384del (p.Lys128fs)
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NM_052989.3(IFT122):c.39C>T (p.His13=)
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NM_052989.3(IFT122):c.41+16G>A
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NM_052989.3(IFT122):c.410G>A (p.Cys137Tyr)
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rs1278478989
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NM_052989.3(IFT122):c.411C>T (p.Cys137=)
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NM_052989.3(IFT122):c.416+13C>T
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NM_052989.3(IFT122):c.416+19del
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rs2108102299
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NM_052989.3(IFT122):c.416+2T>G
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rs2108101855
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NM_052989.3(IFT122):c.417-6A>G
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NM_052989.3(IFT122):c.42-6G>T
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rs757753414
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NM_052989.3(IFT122):c.42T>C (p.Cys14=)
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NM_052989.3(IFT122):c.443_449dup (p.Met151fs)
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NM_052989.3(IFT122):c.445C>T (p.Leu149=)
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NM_052989.3(IFT122):c.458A>G (p.Asn153Ser)
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NM_052989.3(IFT122):c.462G>A (p.Gly154=)
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NM_052989.3(IFT122):c.476G>A (p.Arg159Gln)
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NM_052989.3(IFT122):c.507C>T (p.Ile169=)
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rs139962927
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NM_052989.3(IFT122):c.516G>T (p.Pro172=)
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rs748272790
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NM_052989.3(IFT122):c.521G>C (p.Gly174Ala)
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NM_052989.3(IFT122):c.535A>G (p.Ile179Val)
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NM_052989.3(IFT122):c.536T>G (p.Ile179Arg)
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rs769527595
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NM_052989.3(IFT122):c.552del (p.Cys183_Trp184insTer)
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rs781766922
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NM_052989.3(IFT122):c.556C>T (p.Pro186Ser)
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rs2108118912
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NM_052989.3(IFT122):c.55G>T (p.Ala19Ser)
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NM_052989.3(IFT122):c.563+18C>T
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NM_052989.3(IFT122):c.567A>G (p.Arg189=)
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NM_052989.3(IFT122):c.612T>C (p.Asp204=)
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NM_052989.3(IFT122):c.618T>G (p.Ile206Met)
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rs1320096747
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NM_052989.3(IFT122):c.640A>G (p.Ile214Val)
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NM_052989.3(IFT122):c.686A>C (p.Glu229Ala)
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rs1433055646
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NM_052989.3(IFT122):c.690A>G (p.Ala230=)
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NM_052989.3(IFT122):c.702_713dup (p.Pro235_Glu238dup)
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rs2076877349
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NM_052989.3(IFT122):c.718G>A (p.Asp240Asn)
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NM_052989.3(IFT122):c.72A>G (p.Gly24=)
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NM_052989.3(IFT122):c.757A>G (p.Ile253Val)
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NM_052989.3(IFT122):c.760C>A (p.Leu254Met)
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NM_052989.3(IFT122):c.788T>C (p.Val263Ala)
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NM_052989.3(IFT122):c.795C>T (p.Phe265=)
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rs2077133706
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NM_052989.3(IFT122):c.806G>A (p.Ser269Asn)
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rs2108198145
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NM_052989.3(IFT122):c.807T>G (p.Ser269Arg)
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NM_052989.3(IFT122):c.816+10C>A
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NM_052989.3(IFT122):c.816+12T>C
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rs2077135597
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NM_052989.3(IFT122):c.817A>G (p.Ile273Val)
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NM_052989.3(IFT122):c.852C>G (p.Cys284Trp)
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rs1268071941
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NM_052989.3(IFT122):c.894G>A (p.Gly298=)
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rs1300966652
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NM_052989.3(IFT122):c.896G>A (p.Gly299Asp)
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rs2077955754
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NM_052989.3(IFT122):c.903C>T (p.Asp301=)
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NM_052989.3(IFT122):c.916_917del (p.Leu306fs)
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NM_052989.3(IFT122):c.928G>A (p.Asp310Asn)
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NM_052989.3(IFT122):c.932G>A (p.Gly311Glu)
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NM_052989.3(IFT122):c.94G>A (p.Gly32Arg)
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NM_052989.3(IFT122):c.955del (p.Glu319fs)
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rs397515567
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NM_052989.3(IFT122):c.977C>T (p.Thr326Met)
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rs1389723772
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NM_052989.3(IFT122):c.982C>T (p.Gln328Ter)
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NM_052989.3(IFT122):c.993G>A (p.Pro331=)
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