NM_001377.3(DYNC2H1):c.5558+4A>G
|
rs11225578
|
0.09042
|
NM_001377.3(DYNC2H1):c.1021C>T (p.His341Tyr)
|
rs17301182
|
0.08896
|
NM_147127.5(EVC2):c.-15G>A
|
rs76269601
|
0.07112
|
NM_001377.3(DYNC2H1):c.12457-6C>T
|
rs11225812
|
0.07031
|
NM_001377.3(DYNC2H1):c.21C>T (p.Asp7=)
|
rs17301028
|
0.06471
|
NM_001375405.1(CEP120):c.1431-7A>T
|
rs63388160
|
0.04585
|
NM_001375405.1(CEP120):c.1431-12_1431-9del
|
rs769322546
|
0.04498
|
NM_001377.3(DYNC2H1):c.911A>T (p.Gln304Leu)
|
rs12146610
|
0.04434
|
NM_001199397.3(NEK1):c.1388C>T (p.Ala463Val)
|
rs34540355
|
0.03694
|
NM_001377.3(DYNC2H1):c.2454G>A (p.Glu818=)
|
rs77738279
|
0.03138
|
NM_001375405.1(CEP120):c.1431-13_1431-9del
|
rs772770081
|
0.03054
|
NM_001375405.1(CEP120):c.1431-8A>T
|
rs761915664
|
0.02985
|
NM_015662.3(IFT172):c.337-12C>T
|
rs79529534
|
0.02365
|
NM_001377.3(DYNC2H1):c.1367G>A (p.Arg456Gln)
|
rs17099969
|
0.02244
|
NM_001377.3(DYNC2H1):c.4068C>T (p.Phe1356=)
|
rs74713170
|
0.01817
|
NM_001377.3(DYNC2H1):c.2818+13T>C
|
rs150786504
|
0.01790
|
NM_024753.5(TTC21B):c.2334C>T (p.Tyr778=)
|
rs79656636
|
0.01606
|
NM_001377.3(DYNC2H1):c.*265C>T
|
rs78537620
|
0.01600
|
NM_001377.3(DYNC2H1):c.10461A>G (p.Gln3487=)
|
rs75143468
|
0.01568
|
NM_001377.3(DYNC2H1):c.7122G>A (p.Leu2374=)
|
rs116574613
|
0.01532
|
NM_001377.3(DYNC2H1):c.-94G>T
|
rs114993913
|
0.01448
|
NM_020779.4(WDR35):c.*2315G>C
|
rs72779355
|
0.01383
|
NM_001377.3(DYNC2H1):c.10479C>G (p.Leu3493=)
|
rs151056947
|
0.01339
|
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_020779.4(WDR35):c.1601G>A (p.Arg534Gln)
|
rs113345685
|
0.01206
|
NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys)
|
rs61898615
|
0.01194
|
NM_153717.3(EVC):c.2363G>A (p.Arg788His)
|
rs73795088
|
0.01159
|
NM_014804.3(KIAA0753):c.2338C>T (p.Arg780Cys)
|
rs73342622
|
0.01124
|
NM_001377.3(DYNC2H1):c.6478-6C>T
|
rs114254215
|
0.01103
|
NM_001199397.3(NEK1):c.-488C>T
|
rs62334514
|
0.01094
|
NM_015662.3(IFT172):c.571-15C>G
|
rs75809198
|
0.01015
|
NM_147127.5(EVC2):c.-19T>C
|
rs188508515
|
0.00949
|
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_014714.4(IFT140):c.*63A>G
|
rs149678731
|
0.00706
|
NM_014714.4(IFT140):c.2569G>A (p.Gly857Ser)
|
rs200876696
|
0.00622
|
NM_024753.5(TTC21B):c.2322+3A>G
|
rs79037278
|
0.00575
|
NM_153717.3(EVC):c.284A>G (p.Asp95Gly)
|
rs41269547
|
0.00561
|
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val)
|
rs146496725
|
0.00537
|
NM_014714.4(IFT140):c.4040+11G>A
|
rs144624901
|
0.00530
|
NM_020779.4(WDR35):c.*531T>A
|
rs187092318
|
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_153717.3(EVC):c.*2126T>G
|
rs191415414
|
0.00444
|
NM_001377.3(DYNC2H1):c.7319C>T (p.Thr2440Met)
|
rs146569005
|
0.00441
|
NM_024753.5(TTC21B):c.*1225C>T
|
rs60399987
|
0.00424
|
NM_020800.3(IFT80):c.371-10C>A
|
rs188321058
|
0.00420
|
NM_001199397.3(NEK1):c.2235T>G (p.Asn745Lys)
|
rs34324114
|
0.00417
|
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg)
|
rs141287105
|
0.00406
|
NM_020800.3(IFT80):c.*1089T>C
|
rs181651029
|
0.00377
|
NM_024753.5(TTC21B):c.*656G>A
|
rs180737925
|
0.00376
|
NM_147127.5(EVC2):c.2047-9A>T
|
rs73198154
|
0.00366
|
NM_147127.5(EVC2):c.2601C>T (p.Ala867=)
|
rs116514447
|
0.00357
|
NM_147127.5(EVC2):c.707-4G>A
|
rs113806963
|
0.00357
|
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn)
|
rs74447004
|
0.00356
|
NM_024753.5(TTC21B):c.1571C>G (p.Ser524Cys)
|
rs145436538
|
0.00355
|
NM_014714.4(IFT140):c.3711C>T (p.Phe1237=)
|
rs146172074
|
0.00344
|
NM_147127.5(EVC2):c.1224C>T (p.Ala408=)
|
rs114629810
|
0.00334
|
NM_001377.3(DYNC2H1):c.9939T>C (p.Ala3313=)
|
rs192003811
|
0.00327
|
NM_147127.5(EVC2):c.2621G>A (p.Arg874Gln)
|
rs114764023
|
0.00325
|
NM_147127.5(EVC2):c.2648C>T (p.Ala883Val)
|
rs140951974
|
0.00320
|
NM_147127.5(EVC2):c.864C>T (p.Asn288=)
|
rs144730069
|
0.00320
|
NM_147127.5(EVC2):c.1471-7T>C
|
rs150842594
|
0.00319
|
NM_001377.3(DYNC2H1):c.8881G>A (p.Ala2961Thr)
|
rs199568537
|
0.00317
|
NM_153717.3(EVC):c.1127C>T (p.Ala376Val)
|
rs142535134
|
0.00309
|
NM_001375405.1(CEP120):c.2104-13_2104-12insTA
|
rs749949328
|
0.00302
|
NM_014714.4(IFT140):c.1541T>A (p.Leu514His)
|
rs150903791
|
0.00297
|
NM_014714.4(IFT140):c.1542C>A (p.Leu514=)
|
rs141542834
|
0.00297
|
NM_018051.5(DYNC2I1):c.1040C>T (p.Pro347Leu)
|
rs73529717
|
0.00295
|
NM_014714.4(IFT140):c.2988T>C (p.Asn996=)
|
rs78178397
|
0.00290
|
NM_153717.3(EVC):c.*491C>T
|
rs114993332
|
0.00287
|
NM_147127.5(EVC2):c.122C>A (p.Pro41His)
|
rs544397395
|
0.00286
|
NM_020779.4(WDR35):c.2262C>T (p.Asp754=)
|
rs147206032
|
0.00285
|
NM_153717.3(EVC):c.*2692G>T
|
rs149155153
|
0.00279
|
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser)
|
rs187546086
|
0.00275
|
NM_014714.4(IFT140):c.492-20C>T
|
rs149012740
|
0.00273
|
NM_001329943.3(KIAA0586):c.4629G>A (p.Ser1543=)
|
rs61745066
|
0.00272
|
NM_147127.5(EVC2):c.*207A>G
|
rs73072282
|
0.00270
|
NM_147127.5(EVC2):c.3659+8T>C
|
rs200119306
|
0.00270
|
NM_018051.5(DYNC2I1):c.2768C>A (p.Pro923Gln)
|
rs73167274
|
0.00265
|
NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr)
|
rs202233363
|
0.00255
|
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_052844.4(DYNC2I2):c.1066G>A (p.Gly356Ser)
|
rs17849504
|
0.00244
|
NM_153717.3(EVC):c.532G>A (p.Val178Ile)
|
rs144897690
|
0.00243
|
NM_014714.4(IFT140):c.1524+14C>G
|
rs369481491
|
0.00241
|
NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr)
|
rs138161346
|
0.00241
|
NM_014804.3(KIAA0753):c.236T>C (p.Val79Ala)
|
rs201379908
|
0.00240
|
NM_001377.3(DYNC2H1):c.9814T>A (p.Leu3272Ile)
|
rs200342335
|
0.00236
|
NM_024753.5(TTC21B):c.1846C>T (p.Arg616Cys)
|
rs139441507
|
0.00235
|
NM_020779.4(WDR35):c.1591C>G (p.Leu531Val)
|
rs148242353
|
0.00233
|
NM_014714.4(IFT140):c.1831G>A (p.Val611Ile)
|
rs35301526
|
0.00228
|
NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr)
|
rs189186475
|
0.00227
|
NM_020800.3(IFT80):c.880G>A (p.Val294Ile)
|
rs148926415
|
0.00224
|
NM_020779.4(WDR35):c.355C>T (p.Arg119Cys)
|
rs140308808
|
0.00221
|
NM_014714.4(IFT140):c.3874-11C>T
|
rs199887622
|
0.00220
|
NM_001377.3(DYNC2H1):c.9254C>T (p.Ala3085Val)
|
rs202071528
|
0.00219
|
NM_001199397.3(NEK1):c.975A>G (p.Gly325=)
|
rs150904906
|
0.00218
|
NM_001199397.3(NEK1):c.782G>A (p.Arg261His)
|
rs200161705
|
0.00216
|
NM_024753.5(TTC21B):c.*1087A>T
|
rs150328867
|
0.00213
|
NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=)
|
rs180787556
|
0.00212
|
NM_147127.5(EVC2):c.463T>C (p.Ser155Pro)
|
rs143388379
|
0.00212
|
NM_018051.5(DYNC2I1):c.2210C>T (p.Thr737Met)
|
rs138296655
|
0.00209
|
NM_153717.3(EVC):c.1636A>G (p.Met546Val)
|
rs112608085
|
0.00209
|
NM_147127.5(EVC2):c.2883A>C (p.Gly961=)
|
rs149188988
|
0.00205
|
NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser)
|
rs145277501
|
0.00203
|
NM_020779.4(WDR35):c.1524+11C>A
|
rs200213874
|
0.00201
|
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln)
|
rs41269557
|
0.00201
|
NM_020779.4(WDR35):c.3121+3G>A
|
rs200042577
|
0.00199
|
NM_001329943.3(KIAA0586):c.4519G>A (p.Ala1507Thr)
|
rs140026883
|
0.00196
|
NM_014714.4(IFT140):c.1336A>G (p.Ile446Val)
|
rs139619013
|
0.00196
|
NM_153717.3(EVC):c.8G>C (p.Arg3Pro)
|
rs756852655
|
0.00195
|
NM_153717.3(EVC):c.550G>A (p.Asp184Asn)
|
rs41269549
|
0.00194
|
NM_153717.3(EVC):c.93C>G (p.Ala31=)
|
rs866226288
|
0.00194
|
NM_024753.5(TTC21B):c.1676T>G (p.Val559Gly)
|
rs149325238
|
0.00190
|
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile)
|
rs189806840
|
0.00189
|
NM_001377.3(DYNC2H1):c.5334+6G>A
|
rs372964069
|
0.00189
|
NM_001199397.3(NEK1):c.1581T>C (p.Ala527=)
|
rs184804243
|
0.00188
|
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys)
|
rs141859946
|
0.00188
|
NM_001377.3(DYNC2H1):c.1953+14T>C
|
rs186540831
|
0.00180
|
NM_153717.3(EVC):c.1963G>A (p.Ala655Thr)
|
rs149344570
|
0.00177
|
NM_001329943.3(KIAA0586):c.3553G>A (p.Glu1185Lys)
|
rs200722491
|
0.00175
|
NM_001377.3(DYNC2H1):c.5047C>T (p.Leu1683Phe)
|
rs201563576
|
0.00172
|
NM_153717.3(EVC):c.934G>A (p.Asp312Asn)
|
rs115275195
|
0.00171
|
NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=)
|
rs56077602
|
0.00169
|
NM_014714.4(IFT140):c.3993G>C (p.Gln1331His)
|
rs35823417
|
0.00168
|
NM_020779.4(WDR35):c.2066G>A (p.Arg689His)
|
rs74470618
|
0.00168
|
NM_018051.5(DYNC2I1):c.1778G>A (p.Arg593Gln)
|
rs58538724
|
0.00165
|
NM_052844.4(DYNC2I2):c.107G>T (p.Gly36Val)
|
rs375929394
|
0.00165
|
NM_153717.3(EVC):c.1500G>A (p.Met500Ile)
|
rs149898884
|
0.00163
|
NM_147127.5(EVC2):c.1471-6C>T
|
rs115466792
|
0.00162
|
NM_024753.5(TTC21B):c.2600G>A (p.Arg867His)
|
rs76726265
|
0.00161
|
NM_014714.4(IFT140):c.4040+15C>G
|
rs373703197
|
0.00160
|
NM_020779.4(WDR35):c.*1681A>G
|
rs188310451
|
0.00158
|
NM_020800.3(IFT80):c.897G>A (p.Val299=)
|
rs145776235
|
0.00156
|
NM_015662.3(IFT172):c.3073C>G (p.Pro1025Ala)
|
rs61747068
|
0.00152
|
NM_001199397.3(NEK1):c.924T>G (p.Ile308Met)
|
rs10034957
|
0.00151
|
NM_025132.4(WDR19):c.3667C>T (p.Arg1223Cys)
|
rs201597047
|
0.00150
|
NM_153717.3(EVC):c.2869G>A (p.Gly957Arg)
|
rs35926225
|
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_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val)
|
rs200466720
|
0.00140
|
NM_015662.3(IFT172):c.4755+9G>C
|
rs375261962
|
0.00135
|
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr)
|
rs143343508
|
0.00135
|
NM_001329943.3(KIAA0586):c.182T>C (p.Leu61Ser)
|
rs183168709
|
0.00129
|
NM_001377.3(DYNC2H1):c.8481A>C (p.Thr2827=)
|
rs370627443
|
0.00129
|
NM_014714.4(IFT140):c.2067+12C>T
|
rs201954701
|
0.00129
|
NM_024753.5(TTC21B):c.1867T>C (p.Leu623=)
|
rs140107312
|
0.00129
|
NM_153717.3(EVC):c.1040C>T (p.Thr347Met)
|
rs34947207
|
0.00127
|
NM_014714.4(IFT140):c.1359+12G>C
|
rs150859038
|
0.00125
|
NM_024753.5(TTC21B):c.2161A>C (p.Asn721His)
|
rs146637219
|
0.00124
|
NM_024753.5(TTC21B):c.511G>A (p.Gly171Arg)
|
rs199821354
|
0.00124
|
NM_014714.4(IFT140):c.1574G>C (p.Cys525Ser)
|
rs112545558
|
0.00122
|
NM_001377.3(DYNC2H1):c.10048C>T (p.Arg3350Cys)
|
rs149452352
|
0.00121
|
NM_153717.3(EVC):c.1464+5C>T
|
rs369734950
|
0.00120
|
NM_001329943.3(KIAA0586):c.4430-6A>C
|
rs199732899
|
0.00118
|
NM_018051.5(DYNC2I1):c.1883G>A (p.Ser628Asn)
|
rs149660873
|
0.00118
|
NM_025132.4(WDR19):c.2702A>G (p.Tyr901Cys)
|
rs76326086
|
0.00117
|
NM_153717.3(EVC):c.*2493A>G
|
rs188345323
|
0.00114
|
NM_014714.4(IFT140):c.-4C>T
|
rs140403660
|
0.00112
|
NM_025132.4(WDR19):c.3268A>C (p.Lys1090Gln)
|
rs147302274
|
0.00112
|
NM_018051.5(DYNC2I1):c.2351C>T (p.Ser784Leu)
|
rs151184533
|
0.00110
|
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp)
|
rs34489989
|
0.00108
|
NM_024753.5(TTC21B):c.2472G>A (p.Leu824=)
|
rs114725374
|
0.00107
|
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val)
|
rs137853026
|
0.00105
|
NM_014714.4(IFT140):c.4264G>A (p.Ala1422Thr)
|
rs144726977
|
0.00104
|
NM_015662.3(IFT172):c.3530+7T>C
|
rs150882197
|
0.00103
|
NM_001377.3(DYNC2H1):c.6551A>T (p.Asp2184Val)
|
rs201967064
|
0.00101
|
NM_015662.3(IFT172):c.2443-19A>G
|
rs199907803
|
0.00101
|
NM_025132.4(WDR19):c.2386G>A (p.Ala796Thr)
|
rs187332731
|
0.00101
|
NM_015662.3(IFT172):c.2787+20C>T
|
rs200344602
|
0.00100
|
NM_001377.3(DYNC2H1):c.3500A>G (p.His1167Arg)
|
rs185613200
|
0.00099
|
NM_015662.3(IFT172):c.4274G>A (p.Gly1425Asp)
|
rs139560074
|
0.00099
|
NM_025132.4(WDR19):c.2365G>A (p.Gly789Ser)
|
rs199904529
|
0.00099
|
NM_001199397.3(NEK1):c.3213C>T (p.Asn1071=)
|
rs184324310
|
0.00098
|
NM_018051.5(DYNC2I1):c.1048G>A (p.Glu350Lys)
|
rs200061970
|
0.00098
|
NM_018051.5(DYNC2I1):c.714G>T (p.Glu238Asp)
|
rs150548113
|
0.00098
|
NM_020779.4(WDR35):c.3335A>G (p.Lys1112Arg)
|
rs138007924
|
0.00097
|
NM_147127.5(EVC2):c.707-18G>A
|
rs144093697
|
0.00097
|
NM_001329943.3(KIAA0586):c.3862G>A (p.Asp1288Asn)
|
rs181413894
|
0.00096
|
NM_001375405.1(CEP120):c.28A>G (p.Ile10Val)
|
rs199793672
|
0.00096
|
NM_020779.4(WDR35):c.770T>C (p.Val257Ala)
|
rs142955097
|
0.00095
|
NM_014714.4(IFT140):c.1824A>G (p.Thr608=)
|
rs35433680
|
0.00094
|
NM_001377.3(DYNC2H1):c.12643A>C (p.Ile4215Leu)
|
rs142920070
|
0.00093
|
NM_020779.4(WDR35):c.2678T>C (p.Leu893Ser)
|
rs151047156
|
0.00093
|
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro)
|
rs557830930
|
0.00093
|
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys)
|
rs200190291
|
0.00090
|
NM_001377.3(DYNC2H1):c.9505A>G (p.Ile3169Val)
|
rs200170585
|
0.00090
|
NM_147127.5(EVC2):c.3272+7C>T
|
rs201048030
|
0.00090
|
NM_153717.3(EVC):c.*492G>A
|
rs530991301
|
0.00090
|
NM_020779.4(WDR35):c.2149A>G (p.Ile717Val)
|
rs144493712
|
0.00089
|
NM_001329943.3(KIAA0586):c.3663T>G (p.Ser1221=)
|
rs201202020
|
0.00088
|
NM_001377.3(DYNC2H1):c.11905G>A (p.Val3969Ile)
|
rs189100009
|
0.00087
|
NM_014714.4(IFT140):c.4297C>T (p.Arg1433Cys)
|
rs141392067
|
0.00086
|
NM_014714.4(IFT140):c.4319G>A (p.Arg1440His)
|
rs34813273
|
0.00086
|
NM_015662.3(IFT172):c.2787+6G>A
|
rs75805075
|
0.00086
|
NM_052844.4(DYNC2I2):c.569C>T (p.Thr190Met)
|
rs142859913
|
0.00086
|
NM_153717.3(EVC):c.1612C>G (p.Leu538Val)
|
rs147772724
|
0.00085
|
NM_153717.3(EVC):c.2562-3C>T
|
rs375960614
|
0.00084
|
NM_014714.4(IFT140):c.2057C>G (p.Ala686Gly)
|
rs140941344
|
0.00083
|
NM_015662.3(IFT172):c.2264G>A (p.Arg755Gln)
|
rs78631901
|
0.00083
|
NM_147127.5(EVC2):c.904T>A (p.Phe302Ile)
|
rs138728350
|
0.00083
|
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser)
|
rs150367317
|
0.00083
|
NM_147127.5(EVC2):c.1005+3G>A
|
rs141371552
|
0.00082
|
NM_153717.3(EVC):c.*1976C>T
|
rs56333422
|
0.00082
|
NM_001377.3(DYNC2H1):c.10845G>A (p.Pro3615=)
|
rs187451323
|
0.00081
|
NM_001377.3(DYNC2H1):c.2482A>G (p.Met828Val)
|
rs200961157
|
0.00081
|
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile)
|
rs150887098
|
0.00081
|
NM_001199397.3(NEK1):c.2940G>A (p.Ser980=)
|
rs56252746
|
0.00080
|
NM_014714.4(IFT140):c.*403G>A
|
rs143732634
|
0.00078
|
NM_015662.3(IFT172):c.3186G>A (p.Val1062=)
|
rs143922405
|
0.00078
|
NM_001377.3(DYNC2H1):c.2550G>A (p.Leu850=)
|
rs375307767
|
0.00077
|
NM_001377.3(DYNC2H1):c.5798A>G (p.Glu1933Gly)
|
rs201829296
|
0.00076
|
NM_015662.3(IFT172):c.5161-20G>A
|
rs372154058
|
0.00076
|
NM_014714.4(IFT140):c.3900C>T (p.Tyr1300=)
|
rs148387007
|
0.00075
|
NM_001377.3(DYNC2H1):c.5088G>A (p.Thr1696=)
|
rs201302396
|
0.00074
|
NM_018051.5(DYNC2I1):c.357G>A (p.Lys119=)
|
rs557538074
|
0.00073
|
NM_020779.4(WDR35):c.3467T>G (p.Ile1156Arg)
|
rs147325795
|
0.00072
|
NM_014714.4(IFT140):c.2578-12C>G
|
rs370111842
|
0.00071
|
NM_153717.3(EVC):c.*994C>T
|
rs547970729
|
0.00071
|
NM_024753.5(TTC21B):c.895-8C>T
|
rs1354698515
|
0.00070
|
NM_001377.3(DYNC2H1):c.3170G>A (p.Arg1057His)
|
rs191381310
|
0.00069
|
NM_153717.3(EVC):c.802-15_802-12del
|
rs386671011
|
0.00069
|
NM_015662.3(IFT172):c.899G>A (p.Arg300Gln)
|
rs146332658
|
0.00068
|
NM_025132.4(WDR19):c.2671C>T (p.His891Tyr)
|
rs200266424
|
0.00068
|
NM_153717.3(EVC):c.2322G>C (p.Ala774=)
|
rs150373930
|
0.00067
|
NM_018051.5(DYNC2I1):c.1460+16A>T
|
rs189495408
|
0.00066
|
NM_025132.4(WDR19):c.2363+7C>T
|
rs190180293
|
0.00066
|
NM_153717.3(EVC):c.2449+12C>G
|
rs751678723
|
0.00066
|
NM_001377.3(DYNC2H1):c.1135-11_1135-8del
|
rs551487728
|
0.00064
|
NM_001377.3(DYNC2H1):c.476T>C (p.Leu159Ser)
|
rs201510850
|
0.00064
|
NM_001377.3(DYNC2H1):c.8831A>G (p.Gln2944Arg)
|
rs201252553
|
0.00064
|
NM_025132.4(WDR19):c.2608G>A (p.Asp870Asn)
|
rs201963605
|
0.00064
|
NM_147127.5(EVC2):c.328T>C (p.Phe110Leu)
|
rs150444745
|
0.00064
|
NM_001377.3(DYNC2H1):c.7708+9A>G
|
rs375081757
|
0.00063
|
NM_024753.5(TTC21B):c.1697A>G (p.His566Arg)
|
rs146320075
|
0.00063
|
NM_024753.5(TTC21B):c.3850G>C (p.Asp1284His)
|
rs139537546
|
0.00063
|
NM_025132.4(WDR19):c.1030C>G (p.His344Asp)
|
rs76599296
|
0.00063
|
NM_001199397.3(NEK1):c.686A>G (p.Tyr229Cys)
|
rs61737748
|
0.00062
|
NM_001375405.1(CEP120):c.2580+6T>G
|
rs200418811
|
0.00062
|
NM_001377.3(DYNC2H1):c.11022+7T>A
|
rs190701725
|
0.00062
|
NM_015662.3(IFT172):c.786-12A>G
|
rs373665754
|
0.00061
|
NM_001377.3(DYNC2H1):c.12039+15A>G
|
rs184350782
|
0.00059
|
NM_020779.4(WDR35):c.1227A>G (p.Thr409=)
|
rs148828104
|
0.00059
|
NM_024753.5(TTC21B):c.*847A>C
|
rs138656848
|
0.00058
|
NM_001199397.3(NEK1):c.2647T>C (p.Cys883Arg)
|
rs141491586
|
0.00056
|
NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly)
|
rs201354264
|
0.00056
|
NM_001377.3(DYNC2H1):c.4312T>C (p.Leu1438=)
|
rs367841359
|
0.00055
|
NM_153717.3(EVC):c.1128G>A (p.Ala376=)
|
rs111234281
|
0.00055
|
NM_001377.3(DYNC2H1):c.7320G>A (p.Thr2440=)
|
rs183927107
|
0.00054
|
NM_018051.5(DYNC2I1):c.785A>G (p.Lys262Arg)
|
rs138438967
|
0.00054
|
NM_024753.5(TTC21B):c.3797C>T (p.Pro1266Leu)
|
rs140384742
|
0.00054
|
NM_001329943.3(KIAA0586):c.3688T>C (p.Leu1230=)
|
rs143158234
|
0.00053
|
NM_025132.4(WDR19):c.3918-6A>C
|
rs199546190
|
0.00053
|
NM_001102564.3(IFT43):c.136C>T (p.Leu46=)
|
rs151137087
|
0.00052
|
NM_018051.5(DYNC2I1):c.2433+15A>G
|
rs367950915
|
0.00052
|
NM_001377.3(DYNC2H1):c.33C>T (p.Leu11=)
|
rs373977008
|
0.00051
|
NM_001377.3(DYNC2H1):c.4192A>C (p.Arg1398=)
|
rs371259464
|
0.00051
|
NM_014714.4(IFT140):c.3141+14G>A
|
rs372698828
|
0.00051
|
NM_014714.4(IFT140):c.4273C>A (p.Arg1425=)
|
rs138697817
|
0.00051
|
NM_020779.4(WDR35):c.1072G>A (p.Val358Ile)
|
rs151227688
|
0.00051
|
NM_024753.5(TTC21B):c.553-5A>C
|
rs544620018
|
0.00051
|
NM_052844.4(DYNC2I2):c.19C>T (p.Pro7Ser)
|
rs762357801
|
0.00051
|
NM_153717.3(EVC):c.569G>T (p.Arg190Leu)
|
rs113002470
|
0.00051
|
NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr)
|
rs200699325
|
0.00050
|
NM_024753.5(TTC21B):c.1650A>G (p.Glu550=)
|
rs145926679
|
0.00050
|
NM_015662.3(IFT172):c.2597A>G (p.Gln866Arg)
|
rs139229844
|
0.00049
|
NM_147127.5(EVC2):c.1886+7C>G
|
rs376738238
|
0.00049
|
NM_001329943.3(KIAA0586):c.1653T>C (p.Ile551=)
|
rs374601841
|
0.00048
|
NM_014714.4(IFT140):c.1593G>T (p.Gly531=)
|
rs143491016
|
0.00048
|
NM_014714.4(IFT140):c.2360A>G (p.Asp787Gly)
|
rs144938800
|
0.00048
|
NM_015662.3(IFT172):c.4666G>A (p.Val1556Met)
|
rs141098495
|
0.00048
|
NM_024753.5(TTC21B):c.880G>T (p.Ala294Ser)
|
rs141240501
|
0.00048
|
NM_001377.3(DYNC2H1):c.6093T>G (p.Asp2031Glu)
|
rs372641908
|
0.00047
|
NM_020779.4(WDR35):c.2936G>A (p.Arg979Gln)
|
rs138076014
|
0.00047
|
NM_024753.5(TTC21B):c.*516C>T
|
rs185578095
|
0.00047
|
NM_001377.3(DYNC2H1):c.8661A>G (p.Lys2887=)
|
rs376184114
|
0.00046
|
NM_015662.3(IFT172):c.2158C>T (p.Arg720Cys)
|
rs147744868
|
0.00046
|
NM_015662.3(IFT172):c.2770T>G (p.Ser924Ala)
|
rs142409945
|
0.00046
|
NM_147127.5(EVC2):c.1452G>A (p.Leu484=)
|
rs137884710
|
0.00046
|
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_014714.4(IFT140):c.491+7G>A
|
rs187521755
|
0.00045
|
NM_020779.4(WDR35):c.1051C>G (p.Pro351Ala)
|
rs140753861
|
0.00045
|
NM_001199397.3(NEK1):c.3193A>G (p.Thr1065Ala)
|
rs371084271
|
0.00044
|
NM_001377.3(DYNC2H1):c.12082G>T (p.Gly4028Cys)
|
rs202216852
|
0.00044
|
NM_018051.5(DYNC2I1):c.134C>T (p.Ser45Phe)
|
rs201226440
|
0.00044
|
NM_153717.3(EVC):c.1653G>A (p.Pro551=)
|
rs151293705
|
0.00044
|
NM_001377.3(DYNC2H1):c.1007C>T (p.Ala336Val)
|
rs182506343
|
0.00043
|
NM_001377.3(DYNC2H1):c.1350C>T (p.Asp450=)
|
rs190106816
|
0.00043
|
NM_001377.3(DYNC2H1):c.4576C>A (p.Gln1526Lys)
|
rs201162989
|
0.00043
|
NM_001377.3(DYNC2H1):c.7540+20A>G
|
rs535988847
|
0.00043
|
NM_014714.4(IFT140):c.3542C>T (p.Ser1181Leu)
|
rs145814071
|
0.00043
|
NM_014714.4(IFT140):c.3684C>T (p.Ser1228=)
|
rs146464282
|
0.00043
|
NM_014714.4(IFT140):c.4208G>A (p.Arg1403Gln)
|
rs113216558
|
0.00043
|
NM_015662.3(IFT172):c.2023-15C>A
|
rs377630264
|
0.00043
|
NM_025132.4(WDR19):c.3707G>A (p.Gly1236Glu)
|
rs141039852
|
0.00043
|
NM_147127.5(EVC2):c.229-4T>G
|
rs375534154
|
0.00043
|
NM_001377.3(DYNC2H1):c.1966G>A (p.Gly656Arg)
|
rs369040584
|
0.00042
|
NM_001377.3(DYNC2H1):c.317G>A (p.Ser106Asn)
|
rs200485999
|
0.00042
|
NM_001377.3(DYNC2H1):c.3419G>T (p.Gly1140Val)
|
rs201043335
|
0.00042
|
NM_001377.3(DYNC2H1):c.6642T>C (p.His2214=)
|
rs200306856
|
0.00042
|
NM_153717.3(EVC):c.1540G>A (p.Glu514Lys)
|
rs141896077
|
0.00042
|
NM_001377.3(DYNC2H1):c.6625A>T (p.Thr2209Ser)
|
rs200762072
|
0.00041
|
NM_001377.3(DYNC2H1):c.6769G>A (p.Gly2257Ser)
|
rs199897162
|
0.00041
|
NM_015662.3(IFT172):c.3674G>A (p.Arg1225Gln)
|
rs141440865
|
0.00041
|
NM_024753.5(TTC21B):c.2014C>T (p.Arg672Trp)
|
rs140757802
|
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.*2310G>A
|
rs539844915
|
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_014714.4(IFT140):c.2110G>A (p.Gly704Ser)
|
rs150745099
|
0.00040
|
NM_001377.3(DYNC2H1):c.2244C>T (p.His748=)
|
rs373707570
|
0.00039
|
NM_001377.3(DYNC2H1):c.9007A>G (p.Ile3003Val)
|
rs367832579
|
0.00039
|
NM_014714.4(IFT140):c.3661-18C>T
|
rs575501010
|
0.00039
|
NM_025132.4(WDR19):c.98+14G>T
|
rs77963159
|
0.00039
|
NM_001199397.3(NEK1):c.3047A>G (p.His1016Arg)
|
rs200619983
|
0.00038
|
NM_001199397.3(NEK1):c.3567C>T (p.Asn1189=)
|
rs200710438
|
0.00038
|
NM_001377.3(DYNC2H1):c.5511C>T (p.Asp1837=)
|
rs201953670
|
0.00038
|
NM_014714.4(IFT140):c.3693G>A (p.Thr1231=)
|
rs144028766
|
0.00038
|
NM_147127.5(EVC2):c.3288A>G (p.Gln1096=)
|
rs138902279
|
0.00038
|
NM_153717.3(EVC):c.1995G>A (p.Ser665=)
|
rs142897994
|
0.00038
|
NM_147127.5(EVC2):c.3272+17G>A
|
rs367667945
|
0.00037
|
NM_153717.3(EVC):c.2782+15C>G
|
rs373862588
|
0.00037
|
NM_153717.3(EVC):c.2805G>A (p.Arg935=)
|
rs143631233
|
0.00037
|
NM_020779.4(WDR35):c.*763T>C
|
rs560228088
|
0.00036
|
NM_001375405.1(CEP120):c.1074G>A (p.Glu358=)
|
rs199843371
|
0.00035
|
NM_014714.4(IFT140):c.1359+20G>A
|
rs374488263
|
0.00035
|
NM_001329943.3(KIAA0586):c.3781+8A>G
|
rs368737744
|
0.00034
|
NM_001377.3(DYNC2H1):c.10883C>T (p.Thr3628Ile)
|
rs1057524234
|
0.00034
|
NM_001377.3(DYNC2H1):c.3665G>A (p.Gly1222Glu)
|
rs201194631
|
0.00034
|
NM_001377.3(DYNC2H1):c.8293T>G (p.Phe2765Val)
|
rs199503535
|
0.00034
|
NM_014714.4(IFT140):c.369+12C>T
|
rs192986766
|
0.00034
|
NM_024753.5(TTC21B):c.3223G>C (p.Val1075Leu)
|
rs34925776
|
0.00034
|
NM_147127.5(EVC2):c.1470+20A>G
|
rs375025494
|
0.00034
|
NM_147127.5(EVC2):c.2310G>T (p.Trp770Cys)
|
rs572056540
|
0.00034
|
NM_153717.3(EVC):c.2712C>T (p.Ser904=)
|
rs146829332
|
0.00034
|
NM_001102564.3(IFT43):c.516C>T (p.Val172=)
|
rs372647793
|
0.00033
|
NM_001329943.3(KIAA0586):c.2554-9C>T
|
rs202018500
|
0.00033
|
NM_147127.5(EVC2):c.48G>T (p.Gly16=)
|
rs537265864
|
0.00033
|
NM_153717.3(EVC):c.*2125T>G
|
rs139771274
|
0.00033
|
NM_153717.3(EVC):c.2132A>G (p.Glu711Gly)
|
rs373726507
|
0.00033
|
NM_001375405.1(CEP120):c.1574T>C (p.Phe525Ser)
|
rs567550166
|
0.00032
|
NM_001377.3(DYNC2H1):c.10884A>T (p.Thr3628=)
|
rs371844948
|
0.00032
|
NM_001329943.3(KIAA0586):c.3304+12A>G
|
rs370645135
|
0.00031
|
NM_001377.3(DYNC2H1):c.7576A>G (p.Ile2526Val)
|
rs187196207
|
0.00031
|
NM_014714.4(IFT140):c.2586C>T (p.Ala862=)
|
rs148557575
|
0.00031
|
NM_015662.3(IFT172):c.3005T>A (p.Leu1002His)
|
rs369466577
|
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_025132.4(WDR19):c.3358+16G>A
|
rs375715247
|
0.00031
|
NM_001377.3(DYNC2H1):c.8365T>C (p.Phe2789Leu)
|
rs184910011
|
0.00030
|
NM_015662.3(IFT172):c.886C>T (p.Arg296Trp)
|
rs145541911
|
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_147127.5(EVC2):c.2304G>C (p.Val768=)
|
rs139936564
|
0.00030
|
NM_001329943.3(KIAA0586):c.4326C>T (p.Tyr1442=)
|
rs139175231
|
0.00029
|
NM_001377.3(DYNC2H1):c.5335-11T>G
|
rs181963253
|
0.00029
|
NM_014714.4(IFT140):c.3426G>A (p.Ala1142=)
|
rs202224171
|
0.00029
|
NM_024753.5(TTC21B):c.2300T>C (p.Ile767Thr)
|
rs140824612
|
0.00029
|
NM_025132.4(WDR19):c.1566C>T (p.Pro522=)
|
rs200692490
|
0.00029
|
NM_153717.3(EVC):c.1928G>A (p.Arg643His)
|
rs144906677
|
0.00029
|
NM_001199397.3(NEK1):c.*1222T>G
|
rs543801862
|
0.00028
|
NM_001375405.1(CEP120):c.27C>T (p.Leu9=)
|
rs111851376
|
0.00028
|
NM_018051.5(DYNC2I1):c.324T>C (p.His108=)
|
rs191864940
|
0.00028
|
NM_020800.3(IFT80):c.846T>C (p.Thr282=)
|
rs141134950
|
0.00028
|
NM_024753.5(TTC21B):c.1563C>T (p.His521=)
|
rs138294801
|
0.00028
|
NM_024753.5(TTC21B):c.2942G>A (p.Arg981His)
|
rs142022626
|
0.00028
|
NM_147127.5(EVC2):c.1886+11A>G
|
rs61218140
|
0.00028
|
NM_001329943.3(KIAA0586):c.1254-13T>C
|
rs368443727
|
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_153717.3(EVC):c.802-12C>T
|
rs61514191
|
0.00027
|
NM_001102564.3(IFT43):c.201C>T (p.Ser67=)
|
rs140127543
|
0.00026
|
NM_001199397.3(NEK1):c.3583+8A>C
|
rs192372022
|
0.00026
|
NM_001377.3(DYNC2H1):c.12609A>G (p.Ser4203=)
|
rs377621045
|
0.00026
|
NM_001377.3(DYNC2H1):c.4053T>C (p.Tyr1351=)
|
rs372246714
|
0.00026
|
NM_001377.3(DYNC2H1):c.4916C>A (p.Thr1639Lys)
|
rs200239560
|
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.258T>C (p.Thr86=)
|
rs369061009
|
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_020779.4(WDR35):c.*807T>C
|
rs555257043
|
0.00026
|
NM_153717.3(EVC):c.1797G>A (p.Ala599=)
|
rs199875230
|
0.00026
|
NM_001375405.1(CEP120):c.2187G>A (p.Val729=)
|
rs192078531
|
0.00025
|
NM_001377.3(DYNC2H1):c.1184C>T (p.Ala395Val)
|
rs200822573
|
0.00025
|
NM_014714.4(IFT140):c.*2G>A
|
rs144879630
|
0.00025
|
NM_014714.4(IFT140):c.3532A>G (p.Lys1178Glu)
|
rs538114464
|
0.00025
|
NM_015662.3(IFT172):c.291A>C (p.Glu97Asp)
|
rs189236939
|
0.00025
|
NM_015662.3(IFT172):c.3711+13A>T
|
rs371208266
|
0.00025
|
NM_015662.3(IFT172):c.4290C>T (p.Cys1430=)
|
rs551376007
|
0.00025
|
NM_024753.5(TTC21B):c.960C>G (p.Asn320Lys)
|
rs148866170
|
0.00025
|
NM_153717.3(EVC):c.2276G>A (p.Ser759Asn)
|
rs201776972
|
0.00025
|
NM_001199397.3(NEK1):c.1617G>A (p.Gln539=)
|
rs146569517
|
0.00024
|
NM_001199397.3(NEK1):c.2139+13A>G
|
rs369548359
|
0.00024
|
NM_001199397.3(NEK1):c.3771T>C (p.Asn1257=)
|
rs781165423
|
0.00024
|
NM_001329943.3(KIAA0586):c.15G>C (p.Glu5Asp)
|
rs199554737
|
0.00024
|
NM_001377.3(DYNC2H1):c.10199G>A (p.Arg3400Gln)
|
rs775615484
|
0.00024
|
NM_001377.3(DYNC2H1):c.2145A>G (p.Gln715=)
|
rs373969189
|
0.00024
|
NM_001377.3(DYNC2H1):c.5642G>A (p.Arg1881Lys)
|
rs199541807
|
0.00024
|
NM_001377.3(DYNC2H1):c.8311+10A>G
|
rs376842066
|
0.00024
|
NM_014714.4(IFT140):c.3173T>C (p.Leu1058Ser)
|
rs141471091
|
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_024753.5(TTC21B):c.429+6T>C
|
rs377395392
|
0.00024
|
NM_025132.4(WDR19):c.3484-15T>C
|
rs376870184
|
0.00024
|
NM_052844.4(DYNC2I2):c.814-16C>T
|
rs370599383
|
0.00024
|
NM_147127.5(EVC2):c.2898G>A (p.Ser966=)
|
rs150055324
|
0.00024
|
NM_001375405.1(CEP120):c.2104-12dup
|
rs759878384
|
0.00023
|
NM_014714.4(IFT140):c.2768+17C>T
|
rs373280850
|
0.00023
|
NM_153717.3(EVC):c.174+16A>G
|
rs1049950431
|
0.00023
|
NM_001329943.3(KIAA0586):c.*2C>T
|
rs376691503
|
0.00022
|
NM_001377.3(DYNC2H1):c.10043-7T>A
|
rs376067770
|
0.00022
|
NM_001377.3(DYNC2H1):c.12068G>A (p.Arg4023Lys)
|
rs771264933
|
0.00022
|
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_153717.3(EVC):c.442T>C (p.Leu148=)
|
rs139931919
|
0.00022
|
NM_001329943.3(KIAA0586):c.3861G>A (p.Glu1287=)
|
rs188676684
|
0.00021
|
NM_001329943.3(KIAA0586):c.660C>T (p.His220=)
|
rs555609562
|
0.00021
|
NM_001375405.1(CEP120):c.2013+14T>C
|
rs546872053
|
0.00021
|
NM_001377.3(DYNC2H1):c.4719A>G (p.Gln1573=)
|
rs201016942
|
0.00021
|
NM_001377.3(DYNC2H1):c.5508A>G (p.Lys1836=)
|
rs201305322
|
0.00021
|
NM_014714.4(IFT140):c.3033G>A (p.Ala1011=)
|
rs148625428
|
0.00021
|
NM_014714.4(IFT140):c.3271-4G>A
|
rs200815296
|
0.00021
|
NM_014714.4(IFT140):c.410G>A (p.Arg137Gln)
|
rs145718272
|
0.00021
|
NM_014714.4(IFT140):c.4144C>T (p.Leu1382=)
|
rs139458566
|
0.00021
|
NM_014714.4(IFT140):c.561G>T (p.Lys187Asn)
|
rs139286030
|
0.00021
|
NM_015662.3(IFT172):c.2350C>T (p.Arg784Trp)
|
rs137906877
|
0.00021
|
NM_020800.3(IFT80):c.2158C>A (p.Gln720Lys)
|
rs201820395
|
0.00021
|
NM_025132.4(WDR19):c.2422-15G>A
|
rs564271912
|
0.00021
|
NM_147127.5(EVC2):c.894C>T (p.His298=)
|
rs143027693
|
0.00021
|
NM_001377.3(DYNC2H1):c.838G>T (p.Val280Leu)
|
rs758857025
|
0.00020
|
NM_001377.3(DYNC2H1):c.8769G>A (p.Val2923=)
|
rs375421077
|
0.00020
|
NM_014714.4(IFT140):c.1230G>A (p.Ser410=)
|
rs199840711
|
0.00020
|
NM_015662.3(IFT172):c.2521+11C>T
|
rs373403495
|
0.00020
|
NM_015662.3(IFT172):c.792G>A (p.Arg264=)
|
rs138730915
|
0.00020
|
NM_018051.5(DYNC2I1):c.2151G>A (p.Ala717=)
|
rs375125159
|
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_001329943.3(KIAA0586):c.1896A>G (p.Lys632=)
|
rs760162925
|
0.00019
|
NM_001329943.3(KIAA0586):c.2964C>T (p.Gly988=)
|
rs767722181
|
0.00019
|
NM_001375405.1(CEP120):c.340T>C (p.Leu114=)
|
rs199922403
|
0.00019
|
NM_001377.3(DYNC2H1):c.12042T>C (p.Val4014=)
|
rs199929555
|
0.00019
|
NM_001377.3(DYNC2H1):c.12909C>A (p.Phe4303Leu)
|
rs191971137
|
0.00019
|
NM_001377.3(DYNC2H1):c.2194G>A (p.Val732Ile)
|
rs370906388
|
0.00019
|
NM_001377.3(DYNC2H1):c.2935C>T (p.Arg979Trp)
|
rs772439717
|
0.00019
|
NM_001377.3(DYNC2H1):c.366+10G>A
|
rs200257097
|
0.00019
|
NM_014714.4(IFT140):c.1417G>A (p.Ala473Thr)
|
rs149642543
|
0.00019
|
NM_014714.4(IFT140):c.2787G>A (p.Thr929=)
|
rs374661866
|
0.00019
|
NM_014714.4(IFT140):c.4381G>A (p.Asp1461Asn)
|
rs201065562
|
0.00019
|
NM_015662.3(IFT172):c.4815+9G>A
|
rs199667794
|
0.00019
|
NM_024753.5(TTC21B):c.2227G>A (p.Val743Ile)
|
rs183367929
|
0.00019
|
NM_025132.4(WDR19):c.1595T>C (p.Ile532Thr)
|
rs749672769
|
0.00019
|
NM_147127.5(EVC2):c.2958C>T (p.Thr986=)
|
rs567792423
|
0.00019
|
NM_147127.5(EVC2):c.3413C>T (p.Thr1138Met)
|
rs182298453
|
0.00019
|
NM_153717.3(EVC):c.617+17A>G
|
rs113726930
|
0.00019
|
NM_001199397.3(NEK1):c.1750-5T>C
|
rs199522035
|
0.00018
|
NM_001199397.3(NEK1):c.2889G>A (p.Ser963=)
|
rs756830252
|
0.00018
|
NM_001377.3(DYNC2H1):c.2947-7C>T
|
rs535824548
|
0.00018
|
NM_001377.3(DYNC2H1):c.7719C>T (p.Tyr2573=)
|
rs373903792
|
0.00018
|
NM_001377.3(DYNC2H1):c.7967G>A (p.Arg2656His)
|
rs200614421
|
0.00018
|
NM_014714.4(IFT140):c.2922G>A (p.Ala974=)
|
rs201864536
|
0.00018
|
NM_014714.4(IFT140):c.3543G>A (p.Ser1181=)
|
rs377427370
|
0.00018
|
NM_001006657.2(WDR35):c.1203C>T (p.Asn401=)
|
rs142103808
|
0.00017
|
NM_001199397.3(NEK1):c.-504T>C
|
rs550632789
|
0.00017
|
NM_001329943.3(KIAA0586):c.2163C>T (p.Gly721=)
|
rs368904420
|
0.00017
|
NM_001329943.3(KIAA0586):c.4084A>T (p.Met1362Leu)
|
rs531527716
|
0.00017
|
NM_001377.3(DYNC2H1):c.11649+13A>G
|
rs375086817
|
0.00017
|
NM_001377.3(DYNC2H1):c.12039+19C>T
|
rs778374973
|
0.00017
|
NM_001377.3(DYNC2H1):c.12457-13T>C
|
rs537890566
|
0.00017
|
NM_001377.3(DYNC2H1):c.6726G>T (p.Val2242=)
|
rs200600809
|
0.00017
|
NM_001377.3(DYNC2H1):c.7462G>A (p.Asp2488Asn)
|
rs201825699
|
0.00017
|
NM_001377.3(DYNC2H1):c.7893C>T (p.His2631=)
|
rs373294424
|
0.00017
|
NM_014714.4(IFT140):c.1524+8G>A
|
rs369331038
|
0.00017
|
NM_020800.3(IFT80):c.213A>C (p.Val71=)
|
rs560970159
|
0.00017
|
NM_052844.4(DYNC2I2):c.187-10C>T
|
rs548224589
|
0.00017
|
NM_147127.5(EVC2):c.1341C>T (p.Tyr447=)
|
rs186349183
|
0.00017
|
NM_001199397.3(NEK1):c.1141-19del
|
rs773179397
|
0.00016
|
NM_001199397.3(NEK1):c.1192-17A>C
|
rs112361330
|
0.00016
|
NM_001329943.3(KIAA0586):c.1143A>G (p.Leu381=)
|
rs370408761
|
0.00016
|
NM_001329943.3(KIAA0586):c.117G>A (p.Glu39=)
|
rs190089844
|
0.00016
|
NM_001329943.3(KIAA0586):c.3555A>G (p.Glu1185=)
|
rs780038095
|
0.00016
|
NM_001377.3(DYNC2H1):c.1157C>T (p.Ser386Phe)
|
rs541038013
|
0.00016
|
NM_001377.3(DYNC2H1):c.5313A>G (p.Val1771=)
|
rs144553338
|
0.00016
|
NM_001377.3(DYNC2H1):c.7222G>A (p.Ala2408Thr)
|
rs201875907
|
0.00016
|
NM_001377.3(DYNC2H1):c.9568-13C>G
|
rs189730787
|
0.00016
|
NM_014714.4(IFT140):c.2742C>T (p.Ser914=)
|
rs374793763
|
0.00016
|
NM_014714.4(IFT140):c.3562C>T (p.Arg1188Trp)
|
rs575196272
|
0.00016
|
NM_014714.4(IFT140):c.3718G>A (p.Val1240Met)
|
rs114611454
|
0.00016
|
NM_014714.4(IFT140):c.3874-17G>A
|
rs376776316
|
0.00016
|
NM_015662.3(IFT172):c.2436C>T (p.Tyr812=)
|
rs143142494
|
0.00016
|
NM_015662.3(IFT172):c.98T>C (p.Val33Ala)
|
rs200884031
|
0.00016
|
NM_018051.5(DYNC2I1):c.2670A>G (p.Arg890=)
|
rs373640802
|
0.00016
|
NM_020800.3(IFT80):c.2049C>T (p.Gly683=)
|
rs367915575
|
0.00016
|
NM_020800.3(IFT80):c.640-8T>A
|
rs770339585
|
0.00016
|
NM_020800.3(IFT80):c.912G>A (p.Glu304=)
|
rs199575501
|
0.00016
|
NM_024753.5(TTC21B):c.3131G>A (p.Arg1044Gln)
|
rs140908725
|
0.00016
|
NM_024753.5(TTC21B):c.785A>T (p.Asp262Val)
|
rs756913474
|
0.00016
|
NM_147127.5(EVC2):c.588G>A (p.Ser196=)
|
rs566778000
|
0.00016
|
NM_147127.5(EVC2):c.615G>A (p.Leu205=)
|
rs140864640
|
0.00016
|
NM_147127.5(EVC2):c.984A>T (p.Gly328=)
|
rs1023236102
|
0.00016
|
NM_153717.3(EVC):c.1536C>T (p.Ala512=)
|
rs368554773
|
0.00016
|
NM_153717.3(EVC):c.702+16C>T
|
rs180960931
|
0.00016
|
NM_001329943.3(KIAA0586):c.2536G>C (p.Val846Leu)
|
rs747245461
|
0.00015
|
NM_001375405.1(CEP120):c.402C>T (p.Thr134=)
|
rs143893793
|
0.00015
|
NM_001377.3(DYNC2H1):c.6307T>A (p.Ser2103Thr)
|
rs201003494
|
0.00015
|
NM_014714.4(IFT140):c.4205T>C (p.Met1402Thr)
|
rs202129528
|
0.00015
|
NM_015662.3(IFT172):c.5187C>T (p.Asp1729=)
|
rs143671920
|
0.00015
|
NM_018051.5(DYNC2I1):c.1922-19A>G
|
rs374835240
|
0.00015
|
NM_024753.5(TTC21B):c.173G>A (p.Arg58Gln)
|
rs376163622
|
0.00015
|
NM_052844.4(DYNC2I2):c.1605G>A (p.Ala535=)
|
rs772894632
|
0.00015
|
NM_147127.5(EVC2):c.3174G>A (p.Leu1058=)
|
rs555652075
|
0.00015
|
NM_153717.3(EVC):c.105C>A (p.Gly35=)
|
rs745558003
|
0.00015
|
NM_001199397.3(NEK1):c.162A>G (p.Val54=)
|
rs369056831
|
0.00014
|
NM_001199397.3(NEK1):c.2205+15C>T
|
rs377301531
|
0.00014
|
NM_001199397.3(NEK1):c.594A>G (p.Thr198=)
|
rs373252814
|
0.00014
|
NM_001329943.3(KIAA0586):c.3528-12T>G
|
rs553895000
|
0.00014
|
NM_001329943.3(KIAA0586):c.4495+3790C>T
|
rs757410007
|
0.00014
|
NM_001377.3(DYNC2H1):c.11176A>G (p.Ile3726Val)
|
rs370622418
|
0.00014
|
NM_001377.3(DYNC2H1):c.4548G>A (p.Lys1516=)
|
rs752835156
|
0.00014
|
NM_001377.3(DYNC2H1):c.7209G>A (p.Val2403=)
|
rs371948128
|
0.00014
|
NM_014714.4(IFT140):c.1272G>A (p.Pro424=)
|
rs370562505
|
0.00014
|
NM_014714.4(IFT140):c.194C>T (p.Ala65Val)
|
rs142257947
|
0.00014
|
NM_014714.4(IFT140):c.22C>G (p.Gln8Glu)
|
rs145267929
|
0.00014
|
NM_014714.4(IFT140):c.2651G>A (p.Arg884Gln)
|
rs150498538
|
0.00014
|
NM_015662.3(IFT172):c.1524+20C>T
|
rs201838139
|
0.00014
|
NM_015662.3(IFT172):c.3041A>T (p.Asp1014Val)
|
rs200961120
|
0.00014
|
NM_020779.4(WDR35):c.3252G>A (p.Glu1084=)
|
rs182360785
|
0.00014
|
NM_020800.3(IFT80):c.2099+10A>G
|
rs376944901
|
0.00014
|
NM_020800.3(IFT80):c.640-4G>A
|
rs376056124
|
0.00014
|
NM_020800.3(IFT80):c.807T>C (p.Thr269=)
|
rs372419950
|
0.00014
|
NM_024753.5(TTC21B):c.549T>C (p.Gly183=)
|
rs141664029
|
0.00014
|
NM_025132.4(WDR19):c.3435C>T (p.Ser1145=)
|
rs200659514
|
0.00014
|
NM_052844.4(DYNC2I2):c.741G>A (p.Leu247=)
|
rs370242616
|
0.00014
|
NM_147127.5(EVC2):c.3483G>A (p.Ser1161=)
|
rs374038474
|
0.00014
|
NM_153717.3(EVC):c.1818A>C (p.Thr606=)
|
rs202093497
|
0.00014
|
NM_153717.3(EVC):c.2098-10T>C
|
rs774109576
|
0.00014
|
NM_153717.3(EVC):c.2241G>A (p.Ala747=)
|
rs142094016
|
0.00014
|
NM_153717.3(EVC):c.702+17G>T
|
rs559719173
|
0.00014
|
NM_001329943.3(KIAA0586):c.2832G>A (p.Glu944=)
|
rs373201020
|
0.00013
|
NM_001329943.3(KIAA0586):c.2892T>C (p.Pro964=)
|
rs527907908
|
0.00013
|
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe)
|
rs185504536
|
0.00013
|
NM_001377.3(DYNC2H1):c.6558C>T (p.Asp2186=)
|
rs199675558
|
0.00013
|
NM_014714.4(IFT140):c.1220G>A (p.Arg407Gln)
|
rs151198844
|
0.00013
|
NM_014714.4(IFT140):c.2388G>A (p.Lys796=)
|
rs761593016
|
0.00013
|
NM_014714.4(IFT140):c.2583C>T (p.Asp861=)
|
rs576060920
|
0.00013
|
NM_014714.4(IFT140):c.2886G>A (p.Ala962=)
|
rs201150342
|
0.00013
|
NM_014714.4(IFT140):c.3147C>T (p.Asn1049=)
|
rs150129370
|
0.00013
|
NM_015662.3(IFT172):c.2877+16G>A
|
rs371011283
|
0.00013
|
NM_015662.3(IFT172):c.4795C>T (p.Arg1599Cys)
|
rs186020523
|
0.00013
|
NM_018051.5(DYNC2I1):c.1041G>A (p.Pro347=)
|
rs202014035
|
0.00013
|
NM_020779.4(WDR35):c.2777A>G (p.Tyr926Cys)
|
rs75602337
|
0.00013
|
NM_024753.5(TTC21B):c.441G>A (p.Leu147=)
|
rs147696806
|
0.00013
|
NM_025132.4(WDR19):c.1134+13T>G
|
rs374615138
|
0.00013
|
NM_052844.4(DYNC2I2):c.1372+14G>A
|
rs376782086
|
0.00013
|
NM_147127.5(EVC2):c.284-17G>A
|
rs201654752
|
0.00013
|
NM_153717.3(EVC):c.175-10C>T
|
rs113406354
|
0.00013
|
NM_001199397.3(NEK1):c.114A>T (p.Ser38=)
|
rs778749876
|
0.00012
|
NM_001199397.3(NEK1):c.397-4A>G
|
rs374280409
|
0.00012
|
NM_001329943.3(KIAA0586):c.411-1476T>G
|
rs768486087
|
0.00012
|
NM_001377.3(DYNC2H1):c.10550G>A (p.Arg3517His)
|
rs188113889
|
0.00012
|
NM_001377.3(DYNC2H1):c.11185C>T (p.Pro3729Ser)
|
rs199766341
|
0.00012
|
NM_001377.3(DYNC2H1):c.2210T>A (p.Phe737Tyr)
|
rs200599406
|
0.00012
|
NM_001377.3(DYNC2H1):c.5177G>A (p.Arg1726Gln)
|
rs564701277
|
0.00012
|
NM_001377.3(DYNC2H1):c.9231+12G>A
|
rs369045696
|
0.00012
|
NM_014714.4(IFT140):c.2551G>A (p.Val851Met)
|
rs754753583
|
0.00012
|
NM_014714.4(IFT140):c.2768+12C>T
|
rs756491638
|
0.00012
|
NM_015662.3(IFT172):c.184-10A>T
|
rs546122503
|
0.00012
|
NM_015662.3(IFT172):c.2343A>G (p.Lys781=)
|
rs374062028
|
0.00012
|
NM_015662.3(IFT172):c.2442+16T>A
|
rs189737111
|
0.00012
|
NM_015662.3(IFT172):c.2642+13G>A
|
rs201243826
|
0.00012
|
NM_015662.3(IFT172):c.39+13G>A
|
rs747789616
|
0.00012
|
NM_015662.3(IFT172):c.5161-12A>G
|
rs368863616
|
0.00012
|
NM_015662.3(IFT172):c.918A>G (p.Leu306=)
|
rs746380795
|
0.00012
|
NM_024753.5(TTC21B):c.1725A>G (p.Lys575=)
|
rs771273516
|
0.00012
|
NM_024753.5(TTC21B):c.3415G>A (p.Val1139Ile)
|
rs201162086
|
0.00012
|
NM_052844.4(DYNC2I2):c.1310A>G (p.Tyr437Cys)
|
rs186236478
|
0.00012
|
NM_052844.4(DYNC2I2):c.390C>T (p.His130=)
|
rs760042500
|
0.00012
|
NM_147127.5(EVC2):c.450+17A>G
|
rs370958428
|
0.00012
|
NM_153717.3(EVC):c.2583G>A (p.Arg861=)
|
rs145317746
|
0.00012
|
NM_001006657.2(WDR35):c.1215A>G (p.Thr405=)
|
rs144673252
|
0.00011
|
NM_001199397.3(NEK1):c.2067A>G (p.Thr689=)
|
rs757747641
|
0.00011
|
NM_001199397.3(NEK1):c.3562C>T (p.Leu1188=)
|
rs184270885
|
0.00011
|
NM_001199397.3(NEK1):c.912T>C (p.Pro304=)
|
rs139433990
|
0.00011
|
NM_001329943.3(KIAA0586):c.2856C>T (p.Ile952=)
|
rs780091990
|
0.00011
|
NM_001377.3(DYNC2H1):c.10236A>G (p.Lys3412=)
|
rs576479283
|
0.00011
|
NM_001377.3(DYNC2H1):c.1550A>G (p.His517Arg)
|
rs375299740
|
0.00011
|
NM_001377.3(DYNC2H1):c.291T>A (p.Val97=)
|
rs377529350
|
0.00011
|
NM_001377.3(DYNC2H1):c.4378+11A>G
|
rs375337802
|
0.00011
|
NM_001377.3(DYNC2H1):c.6057A>G (p.Leu2019=)
|
rs187190605
|
0.00011
|
NM_001377.3(DYNC2H1):c.6139+7C>T
|
rs200749262
|
0.00011
|
NM_001377.3(DYNC2H1):c.7797T>G (p.Leu2599=)
|
rs139319426
|
0.00011
|
NM_001377.3(DYNC2H1):c.9178A>C (p.Arg3060=)
|
rs200515728
|
0.00011
|
NM_014714.4(IFT140):c.1861C>T (p.Arg621Trp)
|
rs146480546
|
0.00011
|
NM_014714.4(IFT140):c.2724C>T (p.Ala908=)
|
rs138166567
|
0.00011
|
NM_014714.4(IFT140):c.4125C>T (p.Ile1375=)
|
rs543475833
|
0.00011
|
NM_015662.3(IFT172):c.2878-13T>C
|
rs374938451
|
0.00011
|
NM_020800.3(IFT80):c.1678A>G (p.Asn560Asp)
|
rs202145480
|
0.00011
|
NM_024753.5(TTC21B):c.1116G>A (p.Gly372=)
|
rs771405314
|
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_025132.4(WDR19):c.1797T>G (p.Ala599=)
|
rs373430338
|
0.00011
|
NM_025132.4(WDR19):c.2055T>C (p.Cys685=)
|
rs368336762
|
0.00011
|
NM_025132.4(WDR19):c.3027C>T (p.Asp1009=)
|
rs181975379
|
0.00011
|
NM_025132.4(WDR19):c.3615C>T (p.Gly1205=)
|
rs202102903
|
0.00011
|
NM_025132.4(WDR19):c.6+5A>G
|
rs201198839
|
0.00011
|
NM_052844.4(DYNC2I2):c.276C>T (p.Pro92=)
|
rs368169728
|
0.00011
|
NM_147127.5(EVC2):c.3858C>T (p.His1286=)
|
rs368103321
|
0.00011
|
NM_153717.3(EVC):c.1707G>C (p.Leu569=)
|
rs575586341
|
0.00011
|
NM_153717.3(EVC):c.540G>A (p.Ser180=)
|
rs200120462
|
0.00011
|
NM_153717.3(EVC):c.690G>A (p.Gln230=)
|
rs563481672
|
0.00011
|
NM_153717.3(EVC):c.77C>T (p.Ala26Val)
|
rs1035520087
|
0.00011
|
NM_153717.3(EVC):c.982C>T (p.Leu328Phe)
|
rs199916502
|
0.00011
|
NM_001199397.3(NEK1):c.642G>A (p.Lys214=)
|
rs369725706
|
0.00010
|
NM_001329943.3(KIAA0586):c.4404T>C (p.Ser1468=)
|
rs774903272
|
0.00010
|
NM_001377.3(DYNC2H1):c.10876G>A (p.Val3626Met)
|
rs201852557
|
0.00010
|
NM_001377.3(DYNC2H1):c.9820-8T>A
|
rs750689751
|
0.00010
|
NM_014714.4(IFT140):c.1010-19A>G
|
rs369000362
|
0.00010
|
NM_014714.4(IFT140):c.1146G>A (p.Thr382=)
|
rs200975046
|
0.00010
|
NM_014714.4(IFT140):c.2399+12G>A
|
rs762486311
|
0.00010
|
NM_014714.4(IFT140):c.768G>A (p.Leu256=)
|
rs775181670
|
0.00010
|
NM_015662.3(IFT172):c.337-5C>T
|
rs141086523
|
0.00010
|
NM_015662.3(IFT172):c.3426C>T (p.Pro1142=)
|
rs369463180
|
0.00010
|
NM_018051.5(DYNC2I1):c.1977C>T (p.Ser659=)
|
rs371944841
|
0.00010
|
NM_020800.3(IFT80):c.1350G>A (p.Pro450=)
|
rs201146135
|
0.00010
|
NM_024753.5(TTC21B):c.1637C>T (p.Ser546Phe)
|
rs140323384
|
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_025132.4(WDR19):c.3359-8T>G
|
rs375839756
|
0.00010
|
NM_025132.4(WDR19):c.890+19T>A
|
rs745976180
|
0.00010
|
NM_147127.5(EVC2):c.2340C>T (p.His780=)
|
rs150691722
|
0.00010
|
NM_001199397.3(NEK1):c.2375G>A (p.Gly792Asp)
|
rs200643637
|
0.00009
|
NM_001199397.3(NEK1):c.2421C>T (p.Phe807=)
|
rs56346829
|
0.00009
|
NM_001199397.3(NEK1):c.725A>T (p.Asn242Ile)
|
rs562597839
|
0.00009
|
NM_001329943.3(KIAA0586):c.3859-17C>T
|
rs764917881
|
0.00009
|
NM_001329943.3(KIAA0586):c.4559C>T (p.Pro1520Leu)
|
rs750833160
|
0.00009
|
NM_001329943.3(KIAA0586):c.657A>G (p.Lys219=)
|
rs533752814
|
0.00009
|
NM_001329943.3(KIAA0586):c.789A>G (p.Gln263=)
|
rs550354835
|
0.00009
|
NM_001375405.1(CEP120):c.1038+20C>T
|
rs368172739
|
0.00009
|
NM_001377.3(DYNC2H1):c.12006C>T (p.Ile4002=)
|
rs775505863
|
0.00009
|
NM_001377.3(DYNC2H1):c.12833A>T (p.Asp4278Val)
|
rs200268681
|
0.00009
|
NM_001377.3(DYNC2H1):c.2479A>G (p.Ile827Val)
|
rs201224700
|
0.00009
|
NM_001377.3(DYNC2H1):c.2632A>G (p.Thr878Ala)
|
rs539456541
|
0.00009
|
NM_001377.3(DYNC2H1):c.2702+18A>G
|
rs376509072
|
0.00009
|
NM_001377.3(DYNC2H1):c.4020G>T (p.Gln1340His)
|
rs191869845
|
0.00009
|
NM_001377.3(DYNC2H1):c.7140+10A>C
|
rs776590592
|
0.00009
|
NM_001377.3(DYNC2H1):c.8833-3T>C
|
rs551227065
|
0.00009
|
NM_014714.4(IFT140):c.1504G>A (p.Val502Ile)
|
rs183261797
|
0.00009
|
NM_014714.4(IFT140):c.1995C>T (p.Ala665=)
|
rs200653061
|
0.00009
|
NM_014714.4(IFT140):c.2199+19C>T
|
rs773530788
|
0.00009
|
NM_014714.4(IFT140):c.2504C>T (p.Ala835Val)
|
rs368232950
|
0.00009
|
NM_014714.4(IFT140):c.2528C>T (p.Pro843Leu)
|
rs774864079
|
0.00009
|
NM_014714.4(IFT140):c.2542C>T (p.Arg848Cys)
|
rs201384469
|
0.00009
|
NM_014714.4(IFT140):c.2741G>A (p.Ser914Asn)
|
rs369848545
|
0.00009
|
NM_014714.4(IFT140):c.2768+9G>A
|
rs780735055
|
0.00009
|
NM_014714.4(IFT140):c.2844C>T (p.Tyr948=)
|
rs777036003
|
0.00009
|
NM_014714.4(IFT140):c.2920G>A (p.Ala974Thr)
|
rs769420945
|
0.00009
|
NM_014714.4(IFT140):c.3661-7T>C
|
rs371103301
|
0.00009
|
NM_014714.4(IFT140):c.37G>T (p.Asp13Tyr)
|
rs554065722
|
0.00009
|
NM_014714.4(IFT140):c.4260G>C (p.Val1420=)
|
rs200228341
|
0.00009
|
NM_014714.4(IFT140):c.4303G>A (p.Val1435Ile)
|
rs145746065
|
0.00009
|
NM_014714.4(IFT140):c.4309G>A (p.Glu1437Lys)
|
rs201642067
|
0.00009
|
NM_014714.4(IFT140):c.4354G>A (p.Glu1452Lys)
|
rs142106374
|
0.00009
|
NM_015662.3(IFT172):c.1006-13G>C
|
rs753018358
|
0.00009
|
NM_015662.3(IFT172):c.1608C>T (p.Asp536=)
|
rs749114212
|
0.00009
|
NM_015662.3(IFT172):c.337-4G>A
|
rs374002706
|
0.00009
|
NM_018051.5(DYNC2I1):c.1032C>A (p.Asp344Glu)
|
rs140137568
|
0.00009
|
NM_018051.5(DYNC2I1):c.213C>T (p.Ala71=)
|
rs573392724
|
0.00009
|
NM_018051.5(DYNC2I1):c.2779-6T>G
|
rs190324060
|
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_020800.3(IFT80):c.2289A>G (p.Gln763=)
|
rs142438830
|
0.00009
|
NM_020800.3(IFT80):c.550-16T>C
|
rs773225164
|
0.00009
|
NM_024753.5(TTC21B):c.1883G>A (p.Arg628His)
|
rs139653847
|
0.00009
|
NM_024753.5(TTC21B):c.1923A>G (p.Gln641=)
|
rs150622892
|
0.00009
|
NM_024753.5(TTC21B):c.2895A>T (p.Lys965Asn)
|
rs146201603
|
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.1638C>T (p.Asp546=)
|
rs753505214
|
0.00009
|
NM_025132.4(WDR19):c.2364-15T>C
|
rs771036360
|
0.00009
|
NM_025132.4(WDR19):c.795T>C (p.Gly265=)
|
rs771396030
|
0.00009
|
NM_025132.4(WDR19):c.99-11A>C
|
rs756899296
|
0.00009
|
NM_052844.4(DYNC2I2):c.228C>T (p.Ser76=)
|
rs143075961
|
0.00009
|
NM_147127.5(EVC2):c.129C>T (p.Gly43=)
|
rs985034372
|
0.00009
|
NM_147127.5(EVC2):c.2077G>A (p.Val693Ile)
|
rs199824658
|
0.00009
|
NM_147127.5(EVC2):c.2793C>T (p.Leu931=)
|
rs764663533
|
0.00009
|
NM_147127.5(EVC2):c.3382C>A (p.Leu1128Met)
|
rs200105743
|
0.00009
|
NM_147127.5(EVC2):c.3519C>T (p.Ser1173=)
|
rs749446584
|
0.00009
|
NM_147127.5(EVC2):c.3558-6C>T
|
rs527866261
|
0.00009
|
NM_147127.5(EVC2):c.765C>T (p.Asn255=)
|
rs139129327
|
0.00009
|
NM_147127.5(EVC2):c.817-17C>A
|
rs371482683
|
0.00009
|
NM_153717.3(EVC):c.759A>G (p.Ser253=)
|
rs201105095
|
0.00009
|
NM_001102564.3(IFT43):c.445-15T>C
|
rs745766333
|
0.00008
|
NM_001199397.3(NEK1):c.1750-6T>C
|
rs187716707
|
0.00008
|
NM_001329943.3(KIAA0586):c.1269A>G (p.Glu423=)
|
rs190675549
|
0.00008
|
NM_001329943.3(KIAA0586):c.2736G>A (p.Pro912=)
|
rs368984896
|
0.00008
|
NM_001329943.3(KIAA0586):c.962-14A>T
|
rs200528557
|
0.00008
|
NM_001375405.1(CEP120):c.1431-12T>A
|
rs1224838538
|
0.00008
|
NM_001377.3(DYNC2H1):c.10042+8A>C
|
rs375945170
|
0.00008
|
NM_001377.3(DYNC2H1):c.1662-3T>C
|
rs548328948
|
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.210C>T (p.His70=)
|
rs145160997
|
0.00008
|
NM_014714.4(IFT140):c.2407G>A (p.Val803Ile)
|
rs538791217
|
0.00008
|
NM_014714.4(IFT140):c.3466C>T (p.Leu1156=)
|
rs28718802
|
0.00008
|
NM_014714.4(IFT140):c.3639G>A (p.Thr1213=)
|
rs747655543
|
0.00008
|
NM_014714.4(IFT140):c.4183-20T>C
|
rs371461352
|
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.2366G>A (p.Arg789Gln)
|
rs148237432
|
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_018051.5(DYNC2I1):c.732A>G (p.Lys244=)
|
rs369650727
|
0.00008
|
NM_020779.4(WDR35):c.2109T>G (p.Thr703=)
|
rs201822027
|
0.00008
|
NM_020800.3(IFT80):c.804C>T (p.Asn268=)
|
rs375407595
|
0.00008
|
NM_024753.5(TTC21B):c.1046C>A (p.Thr349Asn)
|
rs753999114
|
0.00008
|
NM_024753.5(TTC21B):c.2010T>A (p.Ile670=)
|
rs757679360
|
0.00008
|
NM_024753.5(TTC21B):c.3495G>A (p.Thr1165=)
|
rs147524050
|
0.00008
|
NM_024753.5(TTC21B):c.3552G>A (p.Ala1184=)
|
rs148113339
|
0.00008
|
NM_025132.4(WDR19):c.1357-7G>A
|
rs377101599
|
0.00008
|
NM_025132.4(WDR19):c.2151G>A (p.Glu717=)
|
rs747574122
|
0.00008
|
NM_025132.4(WDR19):c.2454C>T (p.Ala818=)
|
rs748535483
|
0.00008
|
NM_052844.4(DYNC2I2):c.1373-20G>A
|
rs201988969
|
0.00008
|
NM_147127.5(EVC2):c.1041G>A (p.Pro347=)
|
rs778170817
|
0.00008
|
NM_147127.5(EVC2):c.2250G>A (p.Glu750=)
|
rs552887116
|
0.00008
|
NM_147127.5(EVC2):c.297T>G (p.Leu99=)
|
rs780711879
|
0.00008
|
NM_147127.5(EVC2):c.3558-8G>A
|
rs775806827
|
0.00008
|
NM_147127.5(EVC2):c.520-6C>T
|
rs747479747
|
0.00008
|
NM_153717.3(EVC):c.1564-6C>T
|
rs188245524
|
0.00008
|
NM_153717.3(EVC):c.2102C>T (p.Ala701Val)
|
rs571809727
|
0.00008
|
NM_153717.3(EVC):c.2895-4T>C
|
rs775049818
|
0.00008
|
NM_001199397.3(NEK1):c.3093A>G (p.Gln1031=)
|
rs760811823
|
0.00007
|
NM_001329943.3(KIAA0586):c.1077G>A (p.Lys359=)
|
rs199623501
|
0.00007
|
NM_001329943.3(KIAA0586):c.1752C>G (p.Thr584=)
|
rs534407882
|
0.00007
|
NM_001329943.3(KIAA0586):c.962-15A>C
|
rs767414174
|
0.00007
|
NM_001375405.1(CEP120):c.280T>A (p.Tyr94Asn)
|
rs777235472
|
0.00007
|
NM_001377.3(DYNC2H1):c.11952T>C (p.Ile3984=)
|
rs777460218
|
0.00007
|
NM_001377.3(DYNC2H1):c.6894-5C>T
|
rs552793888
|
0.00007
|
NM_014714.4(IFT140):c.1010-10C>T
|
rs376722338
|
0.00007
|
NM_014714.4(IFT140):c.1376G>C (p.Trp459Ser)
|
rs778311141
|
0.00007
|
NM_014714.4(IFT140):c.1428T>A (p.Ser476Arg)
|
rs771030841
|
0.00007
|
NM_014714.4(IFT140):c.1876T>C (p.Ser626Pro)
|
rs200765913
|
0.00007
|
NM_014714.4(IFT140):c.1989C>T (p.Cys663=)
|
rs781117803
|
0.00007
|
NM_014714.4(IFT140):c.2876G>A (p.Arg959Gln)
|
rs148240226
|
0.00007
|
NM_014714.4(IFT140):c.4214G>A (p.Arg1405Gln)
|
rs558519810
|
0.00007
|
NM_014714.4(IFT140):c.4298G>A (p.Arg1433His)
|
rs138420849
|
0.00007
|
NM_015662.3(IFT172):c.1525-19C>T
|
rs764463970
|
0.00007
|
NM_015662.3(IFT172):c.3711+17A>G
|
rs376488082
|
0.00007
|
NM_015662.3(IFT172):c.4491C>T (p.Ala1497=)
|
rs774451726
|
0.00007
|
NM_015662.3(IFT172):c.4816-8T>C
|
rs371396353
|
0.00007
|
NM_018051.5(DYNC2I1):c.879+14T>C
|
rs374526880
|
0.00007
|
NM_020779.4(WDR35):c.2847A>G (p.Lys949=)
|
rs373983961
|
0.00007
|
NM_020800.3(IFT80):c.1664+16G>A
|
rs371952748
|
0.00007
|
NM_020800.3(IFT80):c.2142A>T (p.Thr714=)
|
rs751917876
|
0.00007
|
NM_020800.3(IFT80):c.2224-9C>T
|
rs752574778
|
0.00007
|
NM_020800.3(IFT80):c.38-4A>G
|
rs368059086
|
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.876A>G (p.Thr292=)
|
rs185247361
|
0.00007
|
NM_024753.5(TTC21B):c.970T>G (p.Ser324Ala)
|
rs762885961
|
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_147127.5(EVC2):c.2202C>T (p.Asp734=)
|
rs199788223
|
0.00007
|
NM_147127.5(EVC2):c.2613C>T (p.Ile871=)
|
rs759358405
|
0.00007
|
NM_147127.5(EVC2):c.3636G>C (p.Leu1212=)
|
rs749901674
|
0.00007
|
NM_153717.3(EVC):c.2041G>A (p.Glu681Lys)
|
rs201877358
|
0.00007
|
NM_001199397.3(NEK1):c.2709C>T (p.Pro903=)
|
rs1487393203
|
0.00006
|
NM_001199397.3(NEK1):c.3750T>C (p.Ile1250=)
|
rs886059225
|
0.00006
|
NM_001199397.3(NEK1):c.551+9A>G
|
rs1469377437
|
0.00006
|
NM_001329943.3(KIAA0586):c.1785A>T (p.Val595=)
|
rs371990780
|
0.00006
|
NM_001329943.3(KIAA0586):c.2060-17A>T
|
rs753287970
|
0.00006
|
NM_001329943.3(KIAA0586):c.3120T>G (p.Ala1040=)
|
rs755369049
|
0.00006
|
NM_001329943.3(KIAA0586):c.411-1365C>T
|
rs905321611
|
0.00006
|
NM_001329943.3(KIAA0586):c.4496-3801G>A
|
rs575409268
|
0.00006
|
NM_001329943.3(KIAA0586):c.783A>G (p.Leu261=)
|
rs370332963
|
0.00006
|
NM_001329943.3(KIAA0586):c.987G>A (p.Thr329=)
|
rs552791846
|
0.00006
|
NM_001375405.1(CEP120):c.2925C>T (p.Ile975=)
|
rs147730520
|
0.00006
|
NM_001377.3(DYNC2H1):c.2005A>G (p.Lys669Glu)
|
rs189533535
|
0.00006
|
NM_001377.3(DYNC2H1):c.4386C>T (p.Asn1462=)
|
rs372442744
|
0.00006
|
NM_001377.3(DYNC2H1):c.4762+20T>C
|
rs750684131
|
0.00006
|
NM_001377.3(DYNC2H1):c.4899T>C (p.Tyr1633=)
|
rs181546925
|
0.00006
|
NM_001377.3(DYNC2H1):c.5496G>A (p.Ser1832=)
|
rs555082393
|
0.00006
|
NM_001377.3(DYNC2H1):c.7242A>G (p.Arg2414=)
|
rs369826197
|
0.00006
|
NM_001377.3(DYNC2H1):c.954A>G (p.Lys318=)
|
rs778594253
|
0.00006
|
NM_001377.3(DYNC2H1):c.9624T>G (p.Ala3208=)
|
rs201247414
|
0.00006
|
NM_014714.4(IFT140):c.1401C>T (p.Phe467=)
|
rs368477699
|
0.00006
|
NM_014714.4(IFT140):c.201G>T (p.Leu67=)
|
rs138991209
|
0.00006
|
NM_014714.4(IFT140):c.2517G>A (p.Ala839=)
|
rs767699979
|
0.00006
|
NM_014714.4(IFT140):c.2645C>T (p.Ala882Val)
|
rs200394007
|
0.00006
|
NM_014714.4(IFT140):c.3490A>G (p.Met1164Val)
|
rs369425839
|
0.00006
|
NM_014714.4(IFT140):c.3580C>G (p.Gln1194Glu)
|
rs555330165
|
0.00006
|
NM_014714.4(IFT140):c.3598A>C (p.Met1200Leu)
|
rs566568065
|
0.00006
|
NM_014714.4(IFT140):c.4131C>T (p.Asp1377=)
|
rs751862515
|
0.00006
|
NM_014714.4(IFT140):c.4266C>T (p.Ala1422=)
|
rs149359139
|
0.00006
|
NM_014714.4(IFT140):c.778C>T (p.Pro260Ser)
|
rs369671309
|
0.00006
|
NM_014714.4(IFT140):c.811-16T>C
|
rs367948949
|
0.00006
|
NM_014714.4(IFT140):c.903-17G>T
|
rs377542255
|
0.00006
|
NM_014714.4(IFT140):c.920G>A (p.Arg307Gln)
|
rs780666037
|
0.00006
|
NM_015662.3(IFT172):c.1006-10C>T
|
rs545781319
|
0.00006
|
NM_015662.3(IFT172):c.1932G>A (p.Ala644=)
|
rs374357498
|
0.00006
|
NM_015662.3(IFT172):c.3530+12C>G
|
rs755760582
|
0.00006
|
NM_015662.3(IFT172):c.3921C>T (p.Asn1307=)
|
rs377211687
|
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_018051.5(DYNC2I1):c.1326T>C (p.Gly442=)
|
rs532519011
|
0.00006
|
NM_018051.5(DYNC2I1):c.985C>T (p.Arg329Trp)
|
rs201649000
|
0.00006
|
NM_020779.4(WDR35):c.1098T>C (p.Asn366=)
|
rs780105362
|
0.00006
|
NM_020779.4(WDR35):c.2573T>C (p.Val858Ala)
|
rs759587265
|
0.00006
|
NM_020779.4(WDR35):c.657C>T (p.Tyr219=)
|
rs768183424
|
0.00006
|
NM_020800.3(IFT80):c.1380+15C>A
|
rs772668269
|
0.00006
|
NM_020800.3(IFT80):c.381T>C (p.Asp127=)
|
rs369785345
|
0.00006
|
NM_024753.5(TTC21B):c.1047C>T (p.Thr349=)
|
rs778117964
|
0.00006
|
NM_024753.5(TTC21B):c.1575T>C (p.Tyr525=)
|
rs199559023
|
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.2007T>C (p.Asp669=)
|
rs138449110
|
0.00006
|
NM_024753.5(TTC21B):c.2054C>T (p.Pro685Leu)
|
rs200930612
|
0.00006
|
NM_024753.5(TTC21B):c.2259G>A (p.Pro753=)
|
rs570679271
|
0.00006
|
NM_024753.5(TTC21B):c.2378A>G (p.Tyr793Cys)
|
rs763158250
|
0.00006
|
NM_024753.5(TTC21B):c.3345T>C (p.Thr1115=)
|
rs376866058
|
0.00006
|
NM_025132.4(WDR19):c.1777+12C>T
|
rs764907062
|
0.00006
|
NM_025132.4(WDR19):c.2274T>C (p.His758=)
|
rs369553528
|
0.00006
|
NM_025132.4(WDR19):c.3917+15C>T
|
rs377597948
|
0.00006
|
NM_025132.4(WDR19):c.604-5_604-4del
|
rs747438345
|
0.00006
|
NM_025132.4(WDR19):c.765G>C (p.Val255=)
|
rs750446561
|
0.00006
|
NM_052844.4(DYNC2I2):c.1167C>T (p.Ser389=)
|
rs374599444
|
0.00006
|
NM_052844.4(DYNC2I2):c.436-11C>T
|
rs750826296
|
0.00006
|
NM_147127.5(EVC2):c.1478T>C (p.Val493Ala)
|
rs202210260
|
0.00006
|
NM_147127.5(EVC2):c.1677T>C (p.Ala559=)
|
rs761646676
|
0.00006
|
NM_147127.5(EVC2):c.192G>C (p.Pro64=)
|
rs777094897
|
0.00006
|
NM_147127.5(EVC2):c.2079C>T (p.Val693=)
|
rs201171209
|
0.00006
|
NM_147127.5(EVC2):c.2604C>T (p.Leu868=)
|
rs138672121
|
0.00006
|
NM_147127.5(EVC2):c.2829+9A>C
|
rs370232376
|
0.00006
|
NM_147127.5(EVC2):c.3837G>A (p.Lys1279=)
|
rs201651890
|
0.00006
|
NM_147127.5(EVC2):c.3864T>A (p.Pro1288=)
|
rs138166440
|
0.00006
|
NM_147127.5(EVC2):c.531G>A (p.Ser177=)
|
rs146658261
|
0.00006
|
NM_147127.5(EVC2):c.887G>C (p.Gly296Ala)
|
rs201083070
|
0.00006
|
NM_153717.3(EVC):c.1242C>T (p.Ser414=)
|
rs769206763
|
0.00006
|
NM_153717.3(EVC):c.1350G>A (p.Ala450=)
|
rs752575646
|
0.00006
|
NM_153717.3(EVC):c.1564-8C>T
|
rs373957181
|
0.00006
|
NM_153717.3(EVC):c.1692C>T (p.Asn564=)
|
rs138242443
|
0.00006
|
NM_153717.3(EVC):c.1980G>A (p.Thr660=)
|
rs537471996
|
0.00006
|
NM_153717.3(EVC):c.2349C>T (p.Ser783=)
|
rs138114051
|
0.00006
|
NM_153717.3(EVC):c.2550G>A (p.Ala850=)
|
rs754053651
|
0.00006
|
NM_153717.3(EVC):c.2868C>T (p.Ser956=)
|
rs757526901
|
0.00006
|
NM_153717.3(EVC):c.534C>A (p.Val178=)
|
rs774703104
|
0.00006
|
NM_153717.3(EVC):c.588C>T (p.Asn196=)
|
rs756994584
|
0.00006
|
NM_153717.3(EVC):c.940-150T>C
|
rs576076928
|
0.00006
|
NM_001329943.3(KIAA0586):c.411-1495T>C
|
rs1364313825
|
0.00005
|
NM_001329943.3(KIAA0586):c.4113T>C (p.Ser1371=)
|
rs200906427
|
0.00005
|
NM_001329943.3(KIAA0586):c.4449T>C (p.Asp1483=)
|
rs538659713
|
0.00005
|
NM_001329943.3(KIAA0586):c.534C>T (p.Thr178=)
|
rs762154780
|
0.00005
|
NM_001375405.1(CEP120):c.2103+7A>G
|
rs764744920
|
0.00005
|
NM_001377.3(DYNC2H1):c.12456+7C>T
|
rs372189534
|
0.00005
|
NM_001377.3(DYNC2H1):c.12578G>A (p.Arg4193His)
|
rs201699865
|
0.00005
|
NM_001377.3(DYNC2H1):c.1935A>T (p.Ala645=)
|
rs368061315
|
0.00005
|
NM_001377.3(DYNC2H1):c.8989C>T (p.Pro2997Ser)
|
rs762604608
|
0.00005
|
NM_014714.4(IFT140):c.1304G>A (p.Gly435Glu)
|
rs201033016
|
0.00005
|
NM_014714.4(IFT140):c.1520G>T (p.Trp507Leu)
|
rs755959856
|
0.00005
|
NM_014714.4(IFT140):c.1896T>A (p.Thr632=)
|
rs141276689
|
0.00005
|
NM_014714.4(IFT140):c.1984G>A (p.Val662Ile)
|
rs199758112
|
0.00005
|
NM_014714.4(IFT140):c.2544C>T (p.Arg848=)
|
rs371008462
|
0.00005
|
NM_014714.4(IFT140):c.2817G>A (p.Ser939=)
|
rs373651150
|
0.00005
|
NM_014714.4(IFT140):c.3015C>T (p.Asn1005=)
|
rs767092157
|
0.00005
|
NM_014714.4(IFT140):c.3087G>A (p.Ala1029=)
|
rs139078766
|
0.00005
|
NM_014714.4(IFT140):c.3660+14G>A
|
rs571494292
|
0.00005
|
NM_014714.4(IFT140):c.3779G>A (p.Arg1260Gln)
|
rs571556177
|
0.00005
|
NM_014714.4(IFT140):c.4250C>T (p.Pro1417Leu)
|
rs555799779
|
0.00005
|
NM_014714.4(IFT140):c.4274G>A (p.Arg1425Gln)
|
rs150276786
|
0.00005
|
NM_014714.4(IFT140):c.594G>A (p.Gly198=)
|
rs754896534
|
0.00005
|
NM_014714.4(IFT140):c.634+12T>C
|
rs747805287
|
0.00005
|
NM_014714.4(IFT140):c.695C>T (p.Thr232Met)
|
rs373258796
|
0.00005
|
NM_015662.3(IFT172):c.1168-7G>A
|
rs373380537
|
0.00005
|
NM_015662.3(IFT172):c.1678A>G (p.Met560Val)
|
rs763516858
|
0.00005
|
NM_015662.3(IFT172):c.2670C>T (p.Ala890=)
|
rs374065796
|
0.00005
|
NM_018051.5(DYNC2I1):c.2154C>T (p.His718=)
|
rs368500706
|
0.00005
|
NM_018051.5(DYNC2I1):c.582C>T (p.Tyr194=)
|
rs368847195
|
0.00005
|
NM_020779.4(WDR35):c.215-4C>G
|
rs369080910
|
0.00005
|
NM_020779.4(WDR35):c.2659-19G>A
|
rs749563049
|
0.00005
|
NM_020800.3(IFT80):c.1076+8T>C
|
rs778101637
|
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_020800.3(IFT80):c.2286G>A (p.Glu762=)
|
rs774118255
|
0.00005
|
NM_020800.3(IFT80):c.468C>T (p.Gly156=)
|
rs145679417
|
0.00005
|
NM_024753.5(TTC21B):c.1677G>C (p.Val559=)
|
rs149842503
|
0.00005
|
NM_024753.5(TTC21B):c.22-6A>C
|
rs377459815
|
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.2550G>A (p.Ala850=)
|
rs144151561
|
0.00005
|
NM_024753.5(TTC21B):c.2569G>A (p.Ala857Thr)
|
rs190101048
|
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.1173C>T (p.Asn391=)
|
rs777985189
|
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_052844.4(DYNC2I2):c.393G>A (p.Ala131=)
|
rs760786107
|
0.00005
|
NM_052844.4(DYNC2I2):c.9C>T (p.Thr3=)
|
rs564750548
|
0.00005
|
NM_147127.5(EVC2):c.126C>T (p.Leu42=)
|
rs781009014
|
0.00005
|
NM_147127.5(EVC2):c.2076C>T (p.Ser692=)
|
rs138556477
|
0.00005
|
NM_147127.5(EVC2):c.2157C>T (p.Ala719=)
|
rs777141609
|
0.00005
|
NM_147127.5(EVC2):c.2556G>A (p.Arg852=)
|
rs762781823
|
0.00005
|
NM_147127.5(EVC2):c.3094C>T (p.Leu1032=)
|
rs777897646
|
0.00005
|
NM_147127.5(EVC2):c.669G>A (p.Ser223=)
|
rs143697185
|
0.00005
|
NM_147127.5(EVC2):c.707-20_707-19del
|
rs777343377
|
0.00005
|
NM_147127.5(EVC2):c.948C>T (p.Ala316=)
|
rs376050796
|
0.00005
|
NM_153717.3(EVC):c.107C>G (p.Ala36Gly)
|
rs1219807707
|
0.00005
|
NM_153717.3(EVC):c.1152T>C (p.Phe384=)
|
rs574038265
|
0.00005
|
NM_153717.3(EVC):c.1962C>T (p.Asn654=)
|
rs189626383
|
0.00005
|
NM_153717.3(EVC):c.2010C>T (p.Leu670=)
|
rs369722491
|
0.00005
|
NM_153717.3(EVC):c.2961G>A (p.Lys987=)
|
rs138808610
|
0.00005
|
NM_153717.3(EVC):c.312G>A (p.Pro104=)
|
rs763930196
|
0.00005
|
NM_153717.3(EVC):c.549C>T (p.Ser183=)
|
rs201071908
|
0.00005
|
NM_001102564.3(IFT43):c.570G>A (p.Glu190=)
|
rs201394224
|
0.00004
|
NM_001199397.3(NEK1):c.1021-8T>C
|
rs748957277
|
0.00004
|
NM_001199397.3(NEK1):c.1728G>A (p.Lys576=)
|
rs776189543
|
0.00004
|
NM_001199397.3(NEK1):c.3129T>C (p.Phe1043=)
|
rs764822486
|
0.00004
|
NM_001199397.3(NEK1):c.3135T>C (p.Ser1045=)
|
rs370713361
|
0.00004
|
NM_001199397.3(NEK1):c.3622G>A (p.Asp1208Asn)
|
rs35503975
|
0.00004
|
NM_001199397.3(NEK1):c.3715-6G>C
|
rs771507979
|
0.00004
|
NM_001329943.3(KIAA0586):c.1572A>G (p.Leu524=)
|
rs750393862
|
0.00004
|
NM_001329943.3(KIAA0586):c.1885-11T>C
|
rs1344938086
|
0.00004
|
NM_001329943.3(KIAA0586):c.271-11A>G
|
rs752733321
|
0.00004
|
NM_001329943.3(KIAA0586):c.3183G>A (p.Thr1061=)
|
rs369590767
|
0.00004
|
NM_001329943.3(KIAA0586):c.3528-20A>G
|
rs759897107
|
0.00004
|
NM_001329943.3(KIAA0586):c.3729C>T (p.Pro1243=)
|
rs377467641
|
0.00004
|
NM_001329943.3(KIAA0586):c.3858+10G>A
|
rs1023641988
|
0.00004
|
NM_001329943.3(KIAA0586):c.4430-6dup
|
rs755622220
|
0.00004
|
NM_001329943.3(KIAA0586):c.4646G>A (p.Ter1549=)
|
rs758764999
|
0.00004
|
NM_001329943.3(KIAA0586):c.576G>A (p.Pro192=)
|
rs369143869
|
0.00004
|
NM_001329943.3(KIAA0586):c.723T>C (p.His241=)
|
rs373333959
|
0.00004
|
NM_001375405.1(CEP120):c.2104-13T>A
|
rs779904226
|
0.00004
|
NM_001375405.1(CEP120):c.2358+18T>C
|
rs201232590
|
0.00004
|
NM_001375405.1(CEP120):c.2359-8T>A
|
rs570367630
|
0.00004
|
NM_001375405.1(CEP120):c.2799T>C (p.His933=)
|
rs775237242
|
0.00004
|
NM_001375405.1(CEP120):c.2889C>T (p.His963=)
|
rs142459804
|
0.00004
|
NM_001375405.1(CEP120):c.963T>C (p.Leu321=)
|
rs201148622
|
0.00004
|
NM_001377.3(DYNC2H1):c.10043-15del
|
rs369851711
|
0.00004
|
NM_001377.3(DYNC2H1):c.10143G>A (p.Pro3381=)
|
rs370992556
|
0.00004
|
NM_001377.3(DYNC2H1):c.10713C>T (p.Phe3571=)
|
rs886043866
|
0.00004
|
NM_001377.3(DYNC2H1):c.10813-9T>G
|
rs754276021
|
0.00004
|
NM_001377.3(DYNC2H1):c.10832G>A (p.Arg3611His)
|
rs751215142
|
0.00004
|
NM_001377.3(DYNC2H1):c.11822A>G (p.Gln3941Arg)
|
rs200583107
|
0.00004
|
NM_001377.3(DYNC2H1):c.11929A>C (p.Ile3977Leu)
|
rs757571550
|
0.00004
|
NM_001377.3(DYNC2H1):c.2421C>T (p.Ile807=)
|
rs763470063
|
0.00004
|
NM_001377.3(DYNC2H1):c.6696C>T (p.Asp2232=)
|
rs747015090
|
0.00004
|
NM_001377.3(DYNC2H1):c.7308G>A (p.Glu2436=)
|
rs755810323
|
0.00004
|
NM_001377.3(DYNC2H1):c.8307A>G (p.Thr2769=)
|
rs1429708573
|
0.00004
|
NM_001377.3(DYNC2H1):c.9710-11C>T
|
rs751333123
|
0.00004
|
NM_001377.3(DYNC2H1):c.999+7A>G
|
rs766672853
|
0.00004
|
NM_014714.4(IFT140):c.1020C>T (p.Ala340=)
|
rs777539406
|
0.00004
|
NM_014714.4(IFT140):c.1030G>A (p.Asp344Asn)
|
rs201871050
|
0.00004
|
NM_014714.4(IFT140):c.1169A>G (p.Lys390Arg)
|
rs369998823
|
0.00004
|
NM_014714.4(IFT140):c.1310C>T (p.Ala437Val)
|
rs199881467
|
0.00004
|
NM_014714.4(IFT140):c.1509A>G (p.Gln503=)
|
rs139385840
|
0.00004
|
NM_014714.4(IFT140):c.1653-4G>A
|
rs750603473
|
0.00004
|
NM_014714.4(IFT140):c.1740C>T (p.Ser580=)
|
rs1314445049
|
0.00004
|
NM_014714.4(IFT140):c.174C>T (p.Val58=)
|
rs769612994
|
0.00004
|
NM_014714.4(IFT140):c.183G>A (p.Pro61=)
|
rs751515057
|
0.00004
|
NM_014714.4(IFT140):c.189G>A (p.Arg63=)
|
rs759832443
|
0.00004
|
NM_014714.4(IFT140):c.2068-12T>G
|
rs377366035
|
0.00004
|
NM_014714.4(IFT140):c.2400-13C>T
|
rs558510749
|
0.00004
|
NM_014714.4(IFT140):c.2424G>A (p.Ala808=)
|
rs375979698
|
0.00004
|
NM_014714.4(IFT140):c.2433C>T (p.Cys811=)
|
rs756784917
|
0.00004
|
NM_014714.4(IFT140):c.2505G>A (p.Ala835=)
|
rs147300509
|
0.00004
|
NM_014714.4(IFT140):c.2562G>A (p.Thr854=)
|
rs750695023
|
0.00004
|
NM_014714.4(IFT140):c.2577+13C>T
|
rs775827558
|
0.00004
|
NM_014714.4(IFT140):c.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.3210G>A (p.Ala1070=)
|
rs372233286
|
0.00004
|
NM_014714.4(IFT140):c.3235G>A (p.Val1079Met)
|
rs146537096
|
0.00004
|
NM_014714.4(IFT140):c.3252G>A (p.Ala1084=)
|
rs375975334
|
0.00004
|
NM_014714.4(IFT140):c.3271-5C>T
|
rs368227090
|
0.00004
|
NM_014714.4(IFT140):c.329G>A (p.Arg110His)
|
rs371077545
|
0.00004
|
NM_014714.4(IFT140):c.3454-18A>G
|
rs373222244
|
0.00004
|
NM_014714.4(IFT140):c.3454-6T>C
|
rs765039853
|
0.00004
|
NM_014714.4(IFT140):c.3675G>T (p.Leu1225=)
|
rs759998867
|
0.00004
|
NM_014714.4(IFT140):c.4182+15C>T
|
rs374874160
|
0.00004
|
NM_014714.4(IFT140):c.4350G>A (p.Leu1450=)
|
rs750381445
|
0.00004
|
NM_014714.4(IFT140):c.708G>A (p.Leu236=)
|
rs200076064
|
0.00004
|
NM_014714.4(IFT140):c.811-10C>T
|
rs781747985
|
0.00004
|
NM_014714.4(IFT140):c.811-19C>T
|
rs568239635
|
0.00004
|
NM_014714.4(IFT140):c.811-7C>T
|
rs751897595
|
0.00004
|
NM_015662.3(IFT172):c.1326-17C>T
|
rs969211942
|
0.00004
|
NM_015662.3(IFT172):c.1524+7A>G
|
rs149896944
|
0.00004
|
NM_015662.3(IFT172):c.1791C>T (p.Ile597=)
|
rs747273253
|
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.2787+10A>G
|
rs199842476
|
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.4407C>T (p.His1469=)
|
rs761583320
|
0.00004
|
NM_015662.3(IFT172):c.4755+11del
|
rs775669156
|
0.00004
|
NM_015662.3(IFT172):c.4816-6C>T
|
rs367782557
|
0.00004
|
NM_015662.3(IFT172):c.571-10T>C
|
rs753921843
|
0.00004
|
NM_015662.3(IFT172):c.861C>T (p.Tyr287=)
|
rs148906663
|
0.00004
|
NM_018051.5(DYNC2I1):c.1017G>A (p.Val339=)
|
rs1006424601
|
0.00004
|
NM_018051.5(DYNC2I1):c.2205T>C (p.Ser735=)
|
rs201245664
|
0.00004
|
NM_018051.5(DYNC2I1):c.2433+19C>T
|
rs759925860
|
0.00004
|
NM_018051.5(DYNC2I1):c.2904C>T (p.Ala968=)
|
rs374305328
|
0.00004
|
NM_018051.5(DYNC2I1):c.876C>T (p.Ser292=)
|
rs757328480
|
0.00004
|
NM_020779.4(WDR35):c.1029T>C (p.Thr343=)
|
rs536150588
|
0.00004
|
NM_020779.4(WDR35):c.143-4T>C
|
rs1180620404
|
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.3136G>C (p.Asp1046His)
|
rs200760434
|
0.00004
|
NM_020779.4(WDR35):c.798C>T (p.Ser266=)
|
rs141118263
|
0.00004
|
NM_020800.3(IFT80):c.1077-8T>C
|
rs184413952
|
0.00004
|
NM_020800.3(IFT80):c.1104A>T (p.Ile368=)
|
rs369114064
|
0.00004
|
NM_020800.3(IFT80):c.1151+14T>C
|
rs549769036
|
0.00004
|
NM_020800.3(IFT80):c.1516+17A>G
|
rs375692165
|
0.00004
|
NM_020800.3(IFT80):c.1545C>T (p.Asn515=)
|
rs376003348
|
0.00004
|
NM_024753.5(TTC21B):c.1854G>A (p.Ser618=)
|
rs529997599
|
0.00004
|
NM_024753.5(TTC21B):c.2138+15T>C
|
rs751850855
|
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.263-15A>G
|
rs534360293
|
0.00004
|
NM_024753.5(TTC21B):c.263-4C>A
|
rs763567542
|
0.00004
|
NM_024753.5(TTC21B):c.2757+20T>C
|
rs373826896
|
0.00004
|
NM_024753.5(TTC21B):c.3003A>C (p.Lys1001Asn)
|
rs377209277
|
0.00004
|
NM_024753.5(TTC21B):c.3222T>G (p.Thr1074=)
|
rs547771085
|
0.00004
|
NM_024753.5(TTC21B):c.3477G>A (p.Ala1159=)
|
rs545954417
|
0.00004
|
NM_024753.5(TTC21B):c.3798G>A (p.Pro1266=)
|
rs767458935
|
0.00004
|
NM_024753.5(TTC21B):c.3805+13A>G
|
rs529123534
|
0.00004
|
NM_024753.5(TTC21B):c.3873+20T>C
|
rs749543618
|
0.00004
|
NM_024753.5(TTC21B):c.66A>G (p.Val22=)
|
rs778014644
|
0.00004
|
NM_024753.5(TTC21B):c.710+19A>G
|
rs779005204
|
0.00004
|
NM_024753.5(TTC21B):c.895-16T>C
|
rs774308869
|
0.00004
|
NM_024753.5(TTC21B):c.913A>G (p.Ile305Val)
|
rs140899101
|
0.00004
|
NM_025132.4(WDR19):c.1836G>T (p.Leu612=)
|
rs377428033
|
0.00004
|
NM_025132.4(WDR19):c.1962A>G (p.Ala654=)
|
rs770818331
|
0.00004
|
NM_025132.4(WDR19):c.2247C>T (p.Ala749=)
|
rs753578673
|
0.00004
|
NM_025132.4(WDR19):c.2363+11G>C
|
rs756503439
|
0.00004
|
NM_025132.4(WDR19):c.2385G>A (p.Leu795=)
|
rs377425662
|
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.2645+16G>A
|
rs771913668
|
0.00004
|
NM_025132.4(WDR19):c.2673C>T (p.His891=)
|
rs753954843
|
0.00004
|
NM_025132.4(WDR19):c.2742T>C (p.Ala914=)
|
rs753812144
|
0.00004
|
NM_025132.4(WDR19):c.3261+11C>T
|
rs202231140
|
0.00004
|
NM_025132.4(WDR19):c.3378C>T (p.His1126=)
|
rs762384397
|
0.00004
|
NM_025132.4(WDR19):c.6+9C>T
|
rs953253544
|
0.00004
|
NM_052844.4(DYNC2I2):c.111G>T (p.Pro37=)
|
rs779081076
|
0.00004
|
NM_052844.4(DYNC2I2):c.1290G>A (p.Ser430=)
|
rs373865808
|
0.00004
|
NM_052844.4(DYNC2I2):c.813+18C>T
|
rs374334685
|
0.00004
|
NM_147127.5(EVC2):c.1122G>A (p.Gly374=)
|
rs780172151
|
0.00004
|
NM_147127.5(EVC2):c.1530G>A (p.Leu510=)
|
rs750953517
|
0.00004
|
NM_147127.5(EVC2):c.2247C>T (p.Asp749=)
|
rs748420448
|
0.00004
|
NM_147127.5(EVC2):c.2397C>T (p.Asp799=)
|
rs372782913
|
0.00004
|
NM_147127.5(EVC2):c.2517A>G (p.Ser839=)
|
rs756424912
|
0.00004
|
NM_147127.5(EVC2):c.2644A>G (p.Thr882Ala)
|
rs190540235
|
0.00004
|
NM_147127.5(EVC2):c.2706+13T>C
|
rs200000369
|
0.00004
|
NM_147127.5(EVC2):c.3048G>A (p.Ser1016=)
|
rs182310332
|
0.00004
|
NM_147127.5(EVC2):c.3058-4G>A
|
rs1490949079
|
0.00004
|
NM_147127.5(EVC2):c.30C>T (p.Pro10=)
|
rs1193570001
|
0.00004
|
NM_147127.5(EVC2):c.3156C>T (p.Ala1052=)
|
rs770163191
|
0.00004
|
NM_147127.5(EVC2):c.3165C>T (p.Pro1055=)
|
rs756880962
|
0.00004
|
NM_147127.5(EVC2):c.3192G>A (p.Val1064=)
|
rs755786659
|
0.00004
|
NM_147127.5(EVC2):c.3405C>T (p.Pro1135=)
|
rs776832054
|
0.00004
|
NM_147127.5(EVC2):c.3489C>T (p.Thr1163=)
|
rs370368827
|
0.00004
|
NM_147127.5(EVC2):c.3825C>T (p.Phe1275=)
|
rs772566880
|
0.00004
|
NM_147127.5(EVC2):c.576C>G (p.Thr192=)
|
rs764691234
|
0.00004
|
NM_147127.5(EVC2):c.732C>T (p.Tyr244=)
|
rs765159349
|
0.00004
|
NM_153717.3(EVC):c.1852G>A (p.Gly618Ser)
|
rs777024713
|
0.00004
|
NM_153717.3(EVC):c.1896G>T (p.Arg632=)
|
rs758327867
|
0.00004
|
NM_153717.3(EVC):c.219G>A (p.Ala73=)
|
rs759816860
|
0.00004
|
NM_153717.3(EVC):c.2305-6C>T
|
rs781705295
|
0.00004
|
NM_153717.3(EVC):c.2412C>T (p.His804=)
|
rs553232598
|
0.00004
|
NM_153717.3(EVC):c.279G>A (p.Ser93=)
|
rs373072919
|
0.00004
|
NM_153717.3(EVC):c.717T>A (p.Ile239=)
|
rs372312182
|
0.00004
|
NM_153717.3(EVC):c.867T>G (p.Gly289=)
|
rs758866277
|
0.00004
|
NM_153717.3(EVC):c.906G>A (p.Lys302=)
|
rs368231289
|
0.00004
|
NM_001102564.3(IFT43):c.501C>A (p.Val167=)
|
rs1248117843
|
0.00003
|
NM_001199397.3(NEK1):c.1063A>G (p.Arg355Gly)
|
rs35763578
|
0.00003
|
NM_001199397.3(NEK1):c.1081-8T>A
|
rs747743441
|
0.00003
|
NM_001199397.3(NEK1):c.1500T>C (p.Ala500=)
|
rs776664093
|
0.00003
|
NM_001199397.3(NEK1):c.192C>T (p.Val64=)
|
rs777436964
|
0.00003
|
NM_001199397.3(NEK1):c.2136C>T (p.Gly712=)
|
rs760404694
|
0.00003
|
NM_001199397.3(NEK1):c.426A>G (p.Val142=)
|
rs200769726
|
0.00003
|
NM_001199397.3(NEK1):c.450T>C (p.Ala150=)
|
rs1473425427
|
0.00003
|
NM_001329943.3(KIAA0586):c.1656+4T>C
|
rs368165741
|
0.00003
|
NM_001329943.3(KIAA0586):c.1779A>G (p.Lys593=)
|
rs1356132325
|
0.00003
|
NM_001329943.3(KIAA0586):c.2944+13G>T
|
rs377092455
|
0.00003
|
NM_001329943.3(KIAA0586):c.3162A>T (p.Pro1054=)
|
rs749756433
|
0.00003
|
NM_001329943.3(KIAA0586):c.3781+20T>G
|
rs770866188
|
0.00003
|
NM_001329943.3(KIAA0586):c.4473G>A (p.Pro1491=)
|
rs768806838
|
0.00003
|
NM_001375405.1(CEP120):c.1113G>A (p.Lys371=)
|
rs375230630
|
0.00003
|
NM_001375405.1(CEP120):c.177A>G (p.Glu59=)
|
rs376374734
|
0.00003
|
NM_001377.3(DYNC2H1):c.12166C>T (p.Leu4056=)
|
rs762723352
|
0.00003
|
NM_001377.3(DYNC2H1):c.12195C>T (p.Asn4065=)
|
rs751411944
|
0.00003
|
NM_001377.3(DYNC2H1):c.1908G>A (p.Arg636=)
|
rs773864708
|
0.00003
|
NM_001377.3(DYNC2H1):c.2955C>A (p.Pro985=)
|
rs777145692
|
0.00003
|
NM_001377.3(DYNC2H1):c.4002G>A (p.Glu1334=)
|
rs886047562
|
0.00003
|
NM_001377.3(DYNC2H1):c.6198G>A (p.Leu2066=)
|
rs770224486
|
0.00003
|
NM_001377.3(DYNC2H1):c.64G>C (p.Gly22Arg)
|
rs751464413
|
0.00003
|
NM_001377.3(DYNC2H1):c.6779T>G (p.Leu2260Arg)
|
rs761222472
|
0.00003
|
NM_001377.3(DYNC2H1):c.6893+14T>C
|
rs372268543
|
0.00003
|
NM_001377.3(DYNC2H1):c.708A>G (p.Arg236=)
|
rs756550778
|
0.00003
|
NM_001377.3(DYNC2H1):c.7149G>A (p.Thr2383=)
|
rs553516014
|
0.00003
|
NM_001377.3(DYNC2H1):c.725A>G (p.His242Arg)
|
rs185536034
|
0.00003
|
NM_001377.3(DYNC2H1):c.7292+13G>A
|
rs1398795058
|
0.00003
|
NM_001377.3(DYNC2H1):c.7847T>C (p.Ile2616Thr)
|
rs761650103
|
0.00003
|
NM_001377.3(DYNC2H1):c.828T>C (p.Pro276=)
|
rs1013912636
|
0.00003
|
NM_001377.3(DYNC2H1):c.8312-11A>G
|
rs749770515
|
0.00003
|
NM_001377.3(DYNC2H1):c.8536T>C (p.Ser2846Pro)
|
rs767717747
|
0.00003
|
NM_001377.3(DYNC2H1):c.9107+13A>G
|
rs769123892
|
0.00003
|
NM_001377.3(DYNC2H1):c.9232-8T>C
|
rs909194619
|
0.00003
|
NM_014714.4(IFT140):c.*429C>T
|
rs192256907
|
0.00003
|
NM_014714.4(IFT140):c.1126G>A (p.Glu376Lys)
|
rs200349591
|
0.00003
|
NM_014714.4(IFT140):c.126C>T (p.Ser42=)
|
rs753351192
|
0.00003
|
NM_014714.4(IFT140):c.1306G>T (p.Val436Phe)
|
rs764912104
|
0.00003
|
NM_014714.4(IFT140):c.1359+9C>T
|
rs371341236
|
0.00003
|
NM_014714.4(IFT140):c.1368C>T (p.Val456=)
|
rs561657958
|
0.00003
|
NM_014714.4(IFT140):c.1432+18G>A
|
rs374262499
|
0.00003
|
NM_014714.4(IFT140):c.1479C>T (p.Asn493=)
|
rs373191298
|
0.00003
|
NM_014714.4(IFT140):c.1972C>T (p.Pro658Ser)
|
rs778960409
|
0.00003
|
NM_014714.4(IFT140):c.2116C>T (p.Leu706=)
|
rs201118178
|
0.00003
|
NM_014714.4(IFT140):c.215C>T (p.Thr72Met)
|
rs774892063
|
0.00003
|
NM_014714.4(IFT140):c.2229G>A (p.Val743=)
|
rs770298357
|
0.00003
|
NM_014714.4(IFT140):c.2304C>T (p.Cys768=)
|
rs373923984
|
0.00003
|
NM_014714.4(IFT140):c.2577+9C>T
|
rs764603088
|
0.00003
|
NM_014714.4(IFT140):c.2650C>T (p.Arg884Trp)
|
rs554196965
|
0.00003
|
NM_014714.4(IFT140):c.2692G>A (p.Val898Met)
|
rs369457143
|
0.00003
|
NM_014714.4(IFT140):c.2717G>A (p.Arg906His)
|
rs754338217
|
0.00003
|
NM_014714.4(IFT140):c.2725G>A (p.Gly909Arg)
|
rs201100248
|
0.00003
|
NM_014714.4(IFT140):c.2746G>A (p.Asp916Asn)
|
rs568921640
|
0.00003
|
NM_014714.4(IFT140):c.2781G>A (p.Ser927=)
|
rs773225207
|
0.00003
|
NM_014714.4(IFT140):c.3453+14G>A
|
rs376739986
|
0.00003
|
NM_014714.4(IFT140):c.3645C>T (p.Ala1215=)
|
rs778438102
|
0.00003
|
NM_014714.4(IFT140):c.3714G>A (p.Ala1238=)
|
rs142224579
|
0.00003
|
NM_014714.4(IFT140):c.4158C>T (p.Tyr1386=)
|
rs111494974
|
0.00003
|
NM_014714.4(IFT140):c.4263C>T (p.Asp1421=)
|
rs138436199
|
0.00003
|
NM_014714.4(IFT140):c.4383C>T (p.Asp1461=)
|
rs768372140
|
0.00003
|
NM_014714.4(IFT140):c.438C>T (p.His146=)
|
rs564988341
|
0.00003
|
NM_014714.4(IFT140):c.657G>A (p.Glu219=)
|
rs757028149
|
0.00003
|
NM_014714.4(IFT140):c.684C>T (p.Ser228=)
|
rs765361599
|
0.00003
|
NM_014714.4(IFT140):c.696G>A (p.Thr232=)
|
rs144087201
|
0.00003
|
NM_015662.3(IFT172):c.1222-5C>T
|
rs920680020
|
0.00003
|
NM_015662.3(IFT172):c.1325+11A>G
|
rs767955758
|
0.00003
|
NM_015662.3(IFT172):c.1693-15G>A
|
rs1214000278
|
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.297-13T>C
|
rs376856549
|
0.00003
|
NM_015662.3(IFT172):c.2975+14C>T
|
rs764978738
|
0.00003
|
NM_015662.3(IFT172):c.3159C>T (p.Leu1053=)
|
rs751712354
|
0.00003
|
NM_015662.3(IFT172):c.357A>G (p.Gln119=)
|
rs749934202
|
0.00003
|
NM_015662.3(IFT172):c.3597C>T (p.Val1199=)
|
rs371169770
|
0.00003
|
NM_015662.3(IFT172):c.3822-16G>A
|
rs373661630
|
0.00003
|
NM_015662.3(IFT172):c.4051-9A>G
|
rs772647033
|
0.00003
|
NM_015662.3(IFT172):c.4161-16C>T
|
rs573518240
|
0.00003
|
NM_015662.3(IFT172):c.4225-18dup
|
rs773571606
|
0.00003
|
NM_015662.3(IFT172):c.456G>A (p.Glu152=)
|
rs771141815
|
0.00003
|
NM_015662.3(IFT172):c.4689A>G (p.Ser1563=)
|
rs370933808
|
0.00003
|
NM_015662.3(IFT172):c.4815+19C>T
|
rs371490518
|
0.00003
|
NM_015662.3(IFT172):c.4915-17C>T
|
rs1431263019
|
0.00003
|
NM_018051.5(DYNC2I1):c.105G>A (p.Lys35=)
|
rs748373806
|
0.00003
|
NM_018051.5(DYNC2I1):c.16-6A>G
|
rs543244299
|
0.00003
|
NM_018051.5(DYNC2I1):c.825C>T (p.Asn275=)
|
rs370119780
|
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.2326C>T (p.Leu776=)
|
rs772138388
|
0.00003
|
NM_020779.4(WDR35):c.3363-15C>T
|
rs763500770
|
0.00003
|
NM_020800.3(IFT80):c.1386A>G (p.Glu462=)
|
rs1039675371
|
0.00003
|
NM_020800.3(IFT80):c.2034A>T (p.Val678=)
|
rs773068068
|
0.00003
|
NM_020800.3(IFT80):c.2307C>T (p.Ser769=)
|
rs565364572
|
0.00003
|
NM_020800.3(IFT80):c.371-20A>T
|
rs1225608232
|
0.00003
|
NM_024753.5(TTC21B):c.1488C>T (p.Phe496=)
|
rs777125970
|
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.2721T>C (p.Tyr907=)
|
rs369005097
|
0.00003
|
NM_024753.5(TTC21B):c.2777G>A (p.Arg926Gln)
|
rs747246700
|
0.00003
|
NM_024753.5(TTC21B):c.2853C>T (p.Asn951=)
|
rs139246984
|
0.00003
|
NM_024753.5(TTC21B):c.3357C>T (p.His1119=)
|
rs772142302
|
0.00003
|
NM_024753.5(TTC21B):c.430-6T>G
|
rs554154931
|
0.00003
|
NM_025132.4(WDR19):c.2706C>T (p.Ala902=)
|
rs766560008
|
0.00003
|
NM_025132.4(WDR19):c.2766A>G (p.Lys922=)
|
rs765314003
|
0.00003
|
NM_025132.4(WDR19):c.3147G>A (p.Ser1049=)
|
rs751070560
|
0.00003
|
NM_025132.4(WDR19):c.3283T>C (p.Leu1095=)
|
rs769329045
|
0.00003
|
NM_025132.4(WDR19):c.3358+9G>A
|
rs752091149
|
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.4026G>A (p.Leu1342=)
|
rs371200402
|
0.00003
|
NM_052844.4(DYNC2I2):c.1131C>T (p.Ser377=)
|
rs149225851
|
0.00003
|
NM_052844.4(DYNC2I2):c.1373-19dup
|
rs757444230
|
0.00003
|
NM_052844.4(DYNC2I2):c.1373-6T>C
|
rs761480637
|
0.00003
|
NM_052844.4(DYNC2I2):c.173T>G (p.Ile58Ser)
|
rs763670176
|
0.00003
|
NM_052844.4(DYNC2I2):c.90G>A (p.Pro30=)
|
rs919478715
|
0.00003
|
NM_052844.4(DYNC2I2):c.990C>T (p.Arg330=)
|
rs753727336
|
0.00003
|
NM_052844.4(DYNC2I2):c.999C>T (p.Thr333=)
|
rs764088224
|
0.00003
|
NM_147127.5(EVC2):c.1887-6A>G
|
rs772186122
|
0.00003
|
NM_147127.5(EVC2):c.2160C>G (p.Thr720=)
|
rs749380539
|
0.00003
|
NM_147127.5(EVC2):c.2451C>T (p.Ala817=)
|
rs377709998
|
0.00003
|
NM_147127.5(EVC2):c.2501+20G>A
|
rs371570790
|
0.00003
|
NM_147127.5(EVC2):c.2571C>A (p.Gly857=)
|
rs533262793
|
0.00003
|
NM_147127.5(EVC2):c.2994G>A (p.Glu998=)
|
rs769447158
|
0.00003
|
NM_147127.5(EVC2):c.3272+16C>T
|
rs200378678
|
0.00003
|
NM_147127.5(EVC2):c.3660-10A>G
|
rs371900491
|
0.00003
|
NM_147127.5(EVC2):c.3732G>A (p.Leu1244=)
|
rs774269538
|
0.00003
|
NM_147127.5(EVC2):c.3882C>T (p.Asn1294=)
|
rs921952317
|
0.00003
|
NM_147127.5(EVC2):c.885C>T (p.His295=)
|
rs752378780
|
0.00003
|
NM_147127.5(EVC2):c.888C>T (p.Gly296=)
|
rs370515818
|
0.00003
|
NM_147127.5(EVC2):c.93C>T (p.Leu31=)
|
rs1217842109
|
0.00003
|
NM_153717.3(EVC):c.1059C>T (p.Ala353=)
|
rs756025432
|
0.00003
|
NM_153717.3(EVC):c.1206C>T (p.His402=)
|
rs756589627
|
0.00003
|
NM_153717.3(EVC):c.1349C>T (p.Ala450Val)
|
rs749008952
|
0.00003
|
NM_153717.3(EVC):c.1377G>A (p.Thr459=)
|
rs138725840
|
0.00003
|
NM_153717.3(EVC):c.1482G>A (p.Leu494=)
|
rs371300088
|
0.00003
|
NM_153717.3(EVC):c.1563+11T>A
|
rs1014470434
|
0.00003
|
NM_153717.3(EVC):c.1722C>T (p.Arg574=)
|
rs144637923
|
0.00003
|
NM_153717.3(EVC):c.1798C>T (p.Leu600=)
|
rs750023994
|
0.00003
|
NM_153717.3(EVC):c.180C>T (p.Asp60=)
|
rs755788871
|
0.00003
|
NM_153717.3(EVC):c.1851C>G (p.Arg617=)
|
rs967986192
|
0.00003
|
NM_153717.3(EVC):c.1956C>T (p.Arg652=)
|
rs535012160
|
0.00003
|
NM_153717.3(EVC):c.231G>A (p.Ser77=)
|
rs140615894
|
0.00003
|
NM_153717.3(EVC):c.2457G>A (p.Arg819=)
|
rs1243308266
|
0.00003
|
NM_153717.3(EVC):c.2529C>T (p.Gly843=)
|
rs377066936
|
0.00003
|
NM_153717.3(EVC):c.2535T>C (p.His845=)
|
rs773156946
|
0.00003
|
NM_153717.3(EVC):c.2649C>T (p.Val883=)
|
rs1483799016
|
0.00003
|
NM_001199397.3(NEK1):c.3612A>G (p.Glu1204=)
|
rs376870683
|
0.00002
|
NM_001199397.3(NEK1):c.99G>A (p.Lys33=)
|
rs758301993
|
0.00002
|
NM_001244189.2(KIAA0586):c.9+14C>T
|
rs1036728165
|
0.00002
|
NM_001329943.3(KIAA0586):c.1130-14C>G
|
rs1457711769
|
0.00002
|
NM_001329943.3(KIAA0586):c.1656+7C>A
|
rs777449141
|
0.00002
|
NM_001329943.3(KIAA0586):c.3030C>T (p.Asn1010=)
|
rs769869324
|
0.00002
|
NM_001329943.3(KIAA0586):c.3432A>C (p.Ser1144=)
|
rs1031513625
|
0.00002
|
NM_001329943.3(KIAA0586):c.3782-18T>C
|
rs1430875009
|
0.00002
|
NM_001329943.3(KIAA0586):c.3849C>T (p.Ala1283=)
|
rs113191202
|
0.00002
|
NM_001329943.3(KIAA0586):c.3894G>A (p.Arg1298=)
|
rs1375416810
|
0.00002
|
NM_001329943.3(KIAA0586):c.4169-8G>C
|
rs766302985
|
0.00002
|
NM_001375405.1(CEP120):c.210A>G (p.Leu70=)
|
rs554875614
|
0.00002
|
NM_001375405.1(CEP120):c.42C>T (p.Ile14=)
|
rs374059490
|
0.00002
|
NM_001377.3(DYNC2H1):c.10043-9T>C
|
rs374033001
|
0.00002
|
NM_001377.3(DYNC2H1):c.10998A>G (p.Ala3666=)
|
rs758373368
|
0.00002
|
NM_001377.3(DYNC2H1):c.11056T>C (p.Leu3686=)
|
rs986262031
|
0.00002
|
NM_001377.3(DYNC2H1):c.11139A>G (p.Leu3713=)
|
rs778092263
|
0.00002
|
NM_001377.3(DYNC2H1):c.11578C>A (p.Arg3860=)
|
rs777253444
|
0.00002
|
NM_001377.3(DYNC2H1):c.11742A>G (p.Gln3914=)
|
rs769560873
|
0.00002
|
NM_001377.3(DYNC2H1):c.12375C>T (p.Leu4125=)
|
rs770385566
|
0.00002
|
NM_001377.3(DYNC2H1):c.1309T>G (p.Leu437Val)
|
rs185651613
|
0.00002
|
NM_001377.3(DYNC2H1):c.2345+9T>C
|
rs772122634
|
0.00002
|
NM_001377.3(DYNC2H1):c.3372C>T (p.Ile1124=)
|
rs774300457
|
0.00002
|
NM_001377.3(DYNC2H1):c.348C>T (p.Phe116=)
|
rs776765795
|
0.00002
|
NM_001377.3(DYNC2H1):c.4127+10A>G
|
rs369188420
|
0.00002
|
NM_001377.3(DYNC2H1):c.4476A>C (p.Leu1492=)
|
rs1392906241
|
0.00002
|
NM_001377.3(DYNC2H1):c.4617A>G (p.Leu1539=)
|
rs931664584
|
0.00002
|
NM_001377.3(DYNC2H1):c.503-18C>G
|
rs199660214
|
0.00002
|
NM_001377.3(DYNC2H1):c.5212G>A (p.Gly1738Ser)
|
rs370669724
|
0.00002
|
NM_001377.3(DYNC2H1):c.5334+14T>G
|
rs748579012
|
0.00002
|
NM_001377.3(DYNC2H1):c.5335-15T>A
|
rs774984944
|
0.00002
|
NM_001377.3(DYNC2H1):c.5443G>A (p.Val1815Ile)
|
rs186344666
|
0.00002
|
NM_001377.3(DYNC2H1):c.7140+8A>G
|
rs768364364
|
0.00002
|
NM_001377.3(DYNC2H1):c.7293-16A>G
|
rs1324744988
|
0.00002
|
NM_014714.4(IFT140):c.1155+15G>A
|
rs764275810
|
0.00002
|
NM_014714.4(IFT140):c.1359+10G>A
|
rs765870382
|
0.00002
|
NM_014714.4(IFT140):c.1359+15G>A
|
rs371515559
|
0.00002
|
NM_014714.4(IFT140):c.156C>T (p.Cys52=)
|
rs759512538
|
0.00002
|
NM_014714.4(IFT140):c.1770+13C>T
|
rs750396462
|
0.00002
|
NM_014714.4(IFT140):c.1809T>C (p.Asp603=)
|
rs779610741
|
0.00002
|
NM_014714.4(IFT140):c.1830C>T (p.Thr610=)
|
rs201049966
|
0.00002
|
NM_014714.4(IFT140):c.1944C>T (p.Pro648=)
|
rs763449097
|
0.00002
|
NM_014714.4(IFT140):c.2109C>T (p.His703=)
|
rs375957506
|
0.00002
|
NM_014714.4(IFT140):c.2199+10C>T
|
rs753778878
|
0.00002
|
NM_014714.4(IFT140):c.2199+13G>A
|
rs760589428
|
0.00002
|
NM_014714.4(IFT140):c.2200-17G>C
|
rs750260483
|
0.00002
|
NM_014714.4(IFT140):c.2200-20A>G
|
rs760501465
|
0.00002
|
NM_014714.4(IFT140):c.2313C>T (p.Ala771=)
|
rs763029487
|
0.00002
|
NM_014714.4(IFT140):c.2322C>T (p.Asp774=)
|
rs546631348
|
0.00002
|
NM_014714.4(IFT140):c.2691C>T (p.Arg897=)
|
rs776456361
|
0.00002
|
NM_014714.4(IFT140):c.2745C>T (p.Ala915=)
|
rs770674501
|
0.00002
|
NM_014714.4(IFT140):c.2816C>T (p.Ser939Leu)
|
rs575485883
|
0.00002
|
NM_014714.4(IFT140):c.2997+9C>G
|
rs1596304034
|
0.00002
|
NM_014714.4(IFT140):c.3030G>A (p.Leu1010=)
|
rs775322966
|
0.00002
|
NM_014714.4(IFT140):c.312C>T (p.Ala104=)
|
rs138263672
|
0.00002
|
NM_014714.4(IFT140):c.3148G>A (p.Gly1050Ser)
|
rs763140298
|
0.00002
|
NM_014714.4(IFT140):c.3270+7G>T
|
rs773532379
|
0.00002
|
NM_014714.4(IFT140):c.3360G>A (p.Thr1120=)
|
rs750862050
|
0.00002
|
NM_014714.4(IFT140):c.3390C>T (p.Ser1130=)
|
rs765923171
|
0.00002
|
NM_014714.4(IFT140):c.3526G>A (p.Val1176Met)
|
rs764946729
|
0.00002
|
NM_014714.4(IFT140):c.357G>C (p.Leu119=)
|
rs2035838651
|
0.00002
|
NM_014714.4(IFT140):c.3602G>A (p.Arg1201His)
|
rs147292597
|
0.00002
|
NM_014714.4(IFT140):c.3660+12C>T
|
rs755939601
|
0.00002
|
NM_014714.4(IFT140):c.369+13G>A
|
rs775756737
|
0.00002
|
NM_014714.4(IFT140):c.369+14C>T
|
rs766013600
|
0.00002
|
NM_014714.4(IFT140):c.423G>A (p.Thr141=)
|
rs769704872
|
0.00002
|
NM_014714.4(IFT140):c.4302C>T (p.Thr1434=)
|
rs774573860
|
0.00002
|
NM_014714.4(IFT140):c.600C>T (p.His200=)
|
rs371783984
|
0.00002
|
NM_014714.4(IFT140):c.731C>A (p.Ala244Glu)
|
rs758547276
|
0.00002
|
NM_014714.4(IFT140):c.819G>A (p.Leu273=)
|
rs763445046
|
0.00002
|
NM_014714.4(IFT140):c.822C>T (p.Ser274=)
|
rs200604057
|
0.00002
|
NM_014714.4(IFT140):c.882C>T (p.Ala294=)
|
rs768675467
|
0.00002
|
NM_015662.3(IFT172):c.15C>T (p.His5=)
|
rs377627847
|
0.00002
|
NM_015662.3(IFT172):c.1638G>A (p.Leu546=)
|
rs372659702
|
0.00002
|
NM_015662.3(IFT172):c.1693-19G>T
|
rs202039261
|
0.00002
|
NM_015662.3(IFT172):c.183+17T>C
|
rs754011076
|
0.00002
|
NM_015662.3(IFT172):c.2194-7T>C
|
rs569757422
|
0.00002
|
NM_015662.3(IFT172):c.2667C>T (p.Ala889=)
|
rs753125303
|
0.00002
|
NM_015662.3(IFT172):c.3093A>G (p.Thr1031=)
|
rs755900185
|
0.00002
|
NM_015662.3(IFT172):c.3229-4A>G
|
rs766026056
|
0.00002
|
NM_015662.3(IFT172):c.336+14C>T
|
rs780202491
|
0.00002
|
NM_015662.3(IFT172):c.3711+15G>A
|
rs778810233
|
0.00002
|
NM_015662.3(IFT172):c.3987A>G (p.Gln1329=)
|
rs768705269
|
0.00002
|
NM_015662.3(IFT172):c.3990T>A (p.Arg1330=)
|
rs367670487
|
0.00002
|
NM_015662.3(IFT172):c.4051-20G>A
|
rs761286001
|
0.00002
|
NM_015662.3(IFT172):c.4228G>T (p.Val1410Leu)
|
rs777573615
|
0.00002
|
NM_015662.3(IFT172):c.4539+10C>T
|
rs778633701
|
0.00002
|
NM_015662.3(IFT172):c.4629G>A (p.Thr1543=)
|
rs371031629
|
0.00002
|
NM_015662.3(IFT172):c.4656G>A (p.Gln1552=)
|
rs530107456
|
0.00002
|
NM_015662.3(IFT172):c.771A>G (p.Leu257=)
|
rs756245677
|
0.00002
|
NM_015662.3(IFT172):c.780T>C (p.Tyr260=)
|
rs752770691
|
0.00002
|
NM_018051.5(DYNC2I1):c.1357+13A>G
|
rs752245321
|
0.00002
|
NM_018051.5(DYNC2I1):c.490+8C>G
|
rs1045646527
|
0.00002
|
NM_018051.5(DYNC2I1):c.846G>T (p.Ser282=)
|
rs1294563167
|
0.00002
|
NM_020779.4(WDR35):c.1410T>C (p.His470=)
|
rs1257210913
|
0.00002
|
NM_020779.4(WDR35):c.2643C>T (p.Cys881=)
|
rs776211441
|
0.00002
|
NM_020779.4(WDR35):c.3189C>T (p.Cys1063=)
|
rs1295936600
|
0.00002
|
NM_020779.4(WDR35):c.339A>G (p.Arg113=)
|
rs750227579
|
0.00002
|
NM_020800.3(IFT80):c.1316-4del
|
rs758421505
|
0.00002
|
NM_020800.3(IFT80):c.1320C>A (p.Ile440=)
|
rs746090893
|
0.00002
|
NM_020800.3(IFT80):c.1381-15T>A
|
rs753249289
|
0.00002
|
NM_020800.3(IFT80):c.1665-6del
|
rs747849008
|
0.00002
|
NM_024753.5(TTC21B):c.121T>C (p.Phe41Leu)
|
rs776138424
|
0.00002
|
NM_024753.5(TTC21B):c.1455A>G (p.Val485=)
|
rs1179957656
|
0.00002
|
NM_024753.5(TTC21B):c.2523T>C (p.Tyr841=)
|
rs375125407
|
0.00002
|
NM_024753.5(TTC21B):c.2682T>G (p.Ser894=)
|
rs776376597
|
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.3039G>A (p.Glu1013=)
|
rs145213653
|
0.00002
|
NM_024753.5(TTC21B):c.318T>C (p.Ala106=)
|
rs747777604
|
0.00002
|
NM_024753.5(TTC21B):c.345C>T (p.Gly115=)
|
rs370444063
|
0.00002
|
NM_024753.5(TTC21B):c.523G>A (p.Gly175Arg)
|
rs771788049
|
0.00002
|
NM_024753.5(TTC21B):c.9G>C (p.Ser3=)
|
rs1186801288
|
0.00002
|
NM_025132.4(WDR19):c.1357-8C>T
|
rs754713889
|
0.00002
|
NM_025132.4(WDR19):c.1752T>C (p.Tyr584=)
|
rs139391186
|
0.00002
|
NM_025132.4(WDR19):c.1875A>G (p.Gly625=)
|
rs998510920
|
0.00002
|
NM_025132.4(WDR19):c.228T>C (p.Ser76=)
|
rs772445156
|
0.00002
|
NM_025132.4(WDR19):c.3042C>T (p.Ala1014=)
|
rs761990492
|
0.00002
|
NM_025132.4(WDR19):c.3246C>T (p.Asn1082=)
|
rs754161203
|
0.00002
|
NM_025132.4(WDR19):c.3369G>A (p.Arg1123=)
|
rs775035034
|
0.00002
|
NM_025132.4(WDR19):c.3483+11T>C
|
rs766475725
|
0.00002
|
NM_025132.4(WDR19):c.3585G>A (p.Thr1195=)
|
rs537597265
|
0.00002
|
NM_025132.4(WDR19):c.3624C>T (p.Asn1208=)
|
rs747334676
|
0.00002
|
NM_025132.4(WDR19):c.3804T>C (p.Pro1268=)
|
rs761793151
|
0.00002
|
NM_025132.4(WDR19):c.4014G>A (p.Thr1338=)
|
rs763555032
|
0.00002
|
NM_025132.4(WDR19):c.406+12C>T
|
rs781438702
|
0.00002
|
NM_025132.4(WDR19):c.822T>C (p.His274=)
|
rs750215526
|
0.00002
|
NM_025132.4(WDR19):c.916T>C (p.Leu306=)
|
rs757561646
|
0.00002
|
NM_025132.4(WDR19):c.98+10C>T
|
rs746441289
|
0.00002
|
NM_025132.4(WDR19):c.99-12G>C
|
rs556356193
|
0.00002
|
NM_052844.4(DYNC2I2):c.1215-9C>T
|
rs1038091645
|
0.00002
|
NM_052844.4(DYNC2I2):c.1377C>T (p.Asp459=)
|
rs1005115532
|
0.00002
|
NM_052844.4(DYNC2I2):c.639G>C (p.Val213=)
|
rs992323389
|
0.00002
|
NM_052844.4(DYNC2I2):c.982-20C>A
|
rs377054600
|
0.00002
|
NM_147127.5(EVC2):c.1083C>T (p.Asn361=)
|
rs142231129
|
0.00002
|
NM_147127.5(EVC2):c.1169G>A (p.Arg390Gln)
|
rs367655073
|
0.00002
|
NM_147127.5(EVC2):c.1503C>G (p.Thr501=)
|
rs369530549
|
0.00002
|
NM_147127.5(EVC2):c.1608A>G (p.Glu536=)
|
rs201898124
|
0.00002
|
NM_147127.5(EVC2):c.1755G>A (p.Arg585=)
|
rs375393612
|
0.00002
|
NM_147127.5(EVC2):c.2046+20A>C
|
rs777490147
|
0.00002
|
NM_147127.5(EVC2):c.2073G>A (p.Ala691=)
|
rs765197478
|
0.00002
|
NM_147127.5(EVC2):c.2337G>A (p.Glu779=)
|
rs985968905
|
0.00002
|
NM_147127.5(EVC2):c.2350A>G (p.Met784Val)
|
rs202191109
|
0.00002
|
NM_147127.5(EVC2):c.2439C>T (p.Asp813=)
|
rs370538823
|
0.00002
|
NM_147127.5(EVC2):c.2502-19T>C
|
rs564320592
|
0.00002
|
NM_147127.5(EVC2):c.2637A>G (p.Gln879=)
|
rs749805702
|
0.00002
|
NM_147127.5(EVC2):c.2667C>T (p.Phe889=)
|
rs201173415
|
0.00002
|
NM_147127.5(EVC2):c.2707-9C>G
|
rs772234395
|
0.00002
|
NM_147127.5(EVC2):c.2949G>A (p.Ser983=)
|
rs755297128
|
0.00002
|
NM_147127.5(EVC2):c.3057+13G>A
|
rs770915834
|
0.00002
|
NM_147127.5(EVC2):c.3058-5T>C
|
rs765936867
|
0.00002
|
NM_147127.5(EVC2):c.3168G>C (p.Gly1056=)
|
rs778954685
|
0.00002
|
NM_147127.5(EVC2):c.3249A>G (p.Thr1083=)
|
rs779715707
|
0.00002
|
NM_147127.5(EVC2):c.3360+9G>A
|
rs747744305
|
0.00002
|
NM_147127.5(EVC2):c.3859G>A (p.Val1287Ile)
|
rs771435248
|
0.00002
|
NM_147127.5(EVC2):c.3891T>C (p.Asn1297=)
|
rs966509995
|
0.00002
|
NM_147127.5(EVC2):c.522G>A (p.Val174=)
|
rs140251602
|
0.00002
|
NM_147127.5(EVC2):c.753A>G (p.Gly251=)
|
rs369737795
|
0.00002
|
NM_147127.5(EVC2):c.792A>G (p.Gln264=)
|
rs1014985062
|
0.00002
|
NM_147127.5(EVC2):c.924C>T (p.Leu308=)
|
rs140800339
|
0.00002
|
NM_153717.3(EVC):c.1074C>T (p.Cys358=)
|
rs921573510
|
0.00002
|
NM_153717.3(EVC):c.114C>G (p.Leu38=)
|
rs1167442380
|
0.00002
|
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln)
|
rs373718642
|
0.00002
|
NM_153717.3(EVC):c.1389G>A (p.Thr463=)
|
rs765596595
|
0.00002
|
NM_153717.3(EVC):c.1539C>T (p.Thr513=)
|
rs549251750
|
0.00002
|
NM_153717.3(EVC):c.1581C>T (p.Thr527=)
|
rs748792939
|
0.00002
|
NM_153717.3(EVC):c.1872C>T (p.Gly624=)
|
rs374432399
|
0.00002
|
NM_153717.3(EVC):c.2098-4C>G
|
rs771784128
|
0.00002
|
NM_153717.3(EVC):c.225C>T (p.Thr75=)
|
rs200161588
|
0.00002
|
NM_153717.3(EVC):c.2331G>A (p.Glu777=)
|
rs749197907
|
0.00002
|
NM_153717.3(EVC):c.2334C>T (p.Ser778=)
|
rs754983705
|
0.00002
|
NM_153717.3(EVC):c.2449+8A>C
|
rs575130220
|
0.00002
|
NM_153717.3(EVC):c.246A>G (p.Pro82=)
|
rs144606687
|
0.00002
|
NM_153717.3(EVC):c.2894+9G>C
|
rs776278582
|
0.00002
|
NM_153717.3(EVC):c.384+19A>G
|
rs200666993
|
0.00002
|
NM_153717.3(EVC):c.411G>A (p.Pro137=)
|
rs758770136
|
0.00002
|
NM_153717.3(EVC):c.474C>T (p.Ser158=)
|
rs751812626
|
0.00002
|
NM_153717.3(EVC):c.519C>T (p.Ser173=)
|
rs1287616282
|
0.00002
|
NM_153717.3(EVC):c.660C>T (p.Asp220=)
|
rs200294295
|
0.00002
|
NM_153717.3(EVC):c.702+8G>A
|
rs757444170
|
0.00002
|
NM_153717.3(EVC):c.801+16A>G
|
rs774227453
|
0.00002
|
NM_153717.3(EVC):c.801+8T>C
|
rs1388494242
|
0.00002
|
NM_001102564.3(IFT43):c.195T>A (p.Gly65=)
|
rs766606545
|
0.00001
|
NM_001102564.3(IFT43):c.368+17A>T
|
rs759453395
|
0.00001
|
NM_001199397.3(NEK1):c.1305A>G (p.Ser435=)
|
rs765909757
|
0.00001
|
NM_001199397.3(NEK1):c.1335T>C (p.His445=)
|
rs776957816
|
0.00001
|
NM_001199397.3(NEK1):c.1356A>G (p.Gln452=)
|
rs529848109
|
0.00001
|
NM_001199397.3(NEK1):c.1430+9A>G
|
rs762293665
|
0.00001
|
NM_001199397.3(NEK1):c.1875G>A (p.Glu625=)
|
rs777616611
|
0.00001
|
NM_001199397.3(NEK1):c.1912-18A>C
|
rs766962190
|
0.00001
|
NM_001199397.3(NEK1):c.2068G>A (p.Gly690Ser)
|
rs754295018
|
0.00001
|
NM_001199397.3(NEK1):c.2085G>A (p.Lys695=)
|
rs1439761503
|
0.00001
|
NM_001199397.3(NEK1):c.2093T>C (p.Met698Thr)
|
rs577165880
|
0.00001
|
NM_001199397.3(NEK1):c.2251C>G (p.Gln751Glu)
|
rs752582295
|
0.00001
|
NM_001199397.3(NEK1):c.2562A>C (p.Leu854=)
|
rs773387212
|
0.00001
|
NM_001199397.3(NEK1):c.264G>A (p.Leu88=)
|
rs780568580
|
0.00001
|
NM_001199397.3(NEK1):c.2726C>G (p.Ser909Cys)
|
rs543224510
|
0.00001
|
NM_001199397.3(NEK1):c.3054G>C (p.Val1018=)
|
rs142337223
|
0.00001
|
NM_001199397.3(NEK1):c.3075C>T (p.Asn1025=)
|
rs886059227
|
0.00001
|
NM_001199397.3(NEK1):c.3240A>G (p.Ser1080=)
|
rs772027178
|
0.00001
|
NM_001199397.3(NEK1):c.3354A>C (p.Gly1118=)
|
rs758692344
|
0.00001
|
NM_001199397.3(NEK1):c.3375-12T>C
|
rs1369688897
|
0.00001
|
NM_001199397.3(NEK1):c.3405A>G (p.Gln1135=)
|
rs774338352
|
0.00001
|
NM_001199397.3(NEK1):c.3583+19G>A
|
rs779325354
|
0.00001
|
NM_001199397.3(NEK1):c.468T>C (p.Thr156=)
|
rs774944690
|
0.00001
|
NM_001199397.3(NEK1):c.552-13T>C
|
rs1350487916
|
0.00001
|
NM_001199397.3(NEK1):c.807+16T>C
|
rs918992197
|
0.00001
|
NM_001199397.3(NEK1):c.807+8C>A
|
rs1240742692
|
0.00001
|
NM_001199397.3(NEK1):c.868+20A>G
|
rs992277540
|
0.00001
|
NM_001199397.3(NEK1):c.87G>A (p.Gln29=)
|
rs1018152335
|
0.00001
|
NM_001199397.3(NEK1):c.937G>A (p.Ala313Thr)
|
rs775516158
|
0.00001
|
NM_001329943.3(KIAA0586):c.1059G>A (p.Arg353=)
|
rs1283583747
|
0.00001
|
NM_001329943.3(KIAA0586):c.1206C>T (p.Thr402=)
|
rs779005063
|
0.00001
|
NM_001329943.3(KIAA0586):c.1254-7C>T
|
rs371116548
|
0.00001
|
NM_001329943.3(KIAA0586):c.1341A>G (p.Lys447=)
|
rs755857778
|
0.00001
|
NM_001329943.3(KIAA0586):c.1362+12A>G
|
rs374756414
|
0.00001
|
NM_001329943.3(KIAA0586):c.1363-18G>A
|
rs767847589
|
0.00001
|
NM_001329943.3(KIAA0586):c.1557G>A (p.Ser519=)
|
rs527483829
|
0.00001
|
NM_001329943.3(KIAA0586):c.1568C>T (p.Ala523Val)
|
rs556274091
|
0.00001
|
NM_001329943.3(KIAA0586):c.1656+11G>A
|
rs2040060841
|
0.00001
|
NM_001329943.3(KIAA0586):c.1791A>G (p.Pro597=)
|
rs1202169940
|
0.00001
|
NM_001329943.3(KIAA0586):c.200-15C>T
|
rs764593812
|
0.00001
|
NM_001329943.3(KIAA0586):c.2010A>G (p.Pro670=)
|
rs185266107
|
0.00001
|
NM_001329943.3(KIAA0586):c.201T>C (p.Gly67=)
|
rs750714192
|
0.00001
|
NM_001329943.3(KIAA0586):c.2028A>G (p.Pro676=)
|
rs559438142
|
0.00001
|
NM_001329943.3(KIAA0586):c.2255-11A>G
|
rs752712583
|
0.00001
|
NM_001329943.3(KIAA0586):c.2295A>C (p.Gly765=)
|
rs200937470
|
0.00001
|
NM_001329943.3(KIAA0586):c.2505G>C (p.Leu835=)
|
rs751246498
|
0.00001
|
NM_001329943.3(KIAA0586):c.2634+20A>G
|
rs546773198
|
0.00001
|
NM_001329943.3(KIAA0586):c.2635-17G>T
|
rs1478236874
|
0.00001
|
NM_001329943.3(KIAA0586):c.2823A>G (p.Gln941=)
|
rs776447854
|
0.00001
|
NM_001329943.3(KIAA0586):c.285C>T (p.Asp95=)
|
rs527601211
|
0.00001
|
NM_001329943.3(KIAA0586):c.2862G>A (p.Gly954=)
|
rs746874985
|
0.00001
|
NM_001329943.3(KIAA0586):c.2912G>A (p.Ser971Asn)
|
rs3783696
|
0.00001
|
NM_001329943.3(KIAA0586):c.3246T>G (p.Ser1082=)
|
rs779554669
|
0.00001
|
NM_001329943.3(KIAA0586):c.3304+19T>A
|
rs759164063
|
0.00001
|
NM_001329943.3(KIAA0586):c.3375G>A (p.Ala1125=)
|
rs765655962
|
0.00001
|
NM_001329943.3(KIAA0586):c.340+7G>T
|
rs763185199
|
0.00001
|
NM_001329943.3(KIAA0586):c.3527+12C>T
|
rs1369279718
|
0.00001
|
NM_001329943.3(KIAA0586):c.3594A>G (p.Pro1198=)
|
rs764114899
|
0.00001
|
NM_001329943.3(KIAA0586):c.3633G>A (p.Lys1211=)
|
rs780785984
|
0.00001
|
NM_001329943.3(KIAA0586):c.3687A>G (p.Thr1229=)
|
rs773464253
|
0.00001
|
NM_001329943.3(KIAA0586):c.3696T>C (p.Val1232=)
|
rs1480788246
|
0.00001
|
NM_001329943.3(KIAA0586):c.3717T>G (p.Thr1239=)
|
rs758690971
|
0.00001
|
NM_001329943.3(KIAA0586):c.3750A>G (p.Leu1250=)
|
rs1222178512
|
0.00001
|
NM_001329943.3(KIAA0586):c.3816T>C (p.Leu1272=)
|
rs755315601
|
0.00001
|
NM_001329943.3(KIAA0586):c.3819T>C (p.Asn1273=)
|
rs970331206
|
0.00001
|
NM_001329943.3(KIAA0586):c.3858+8A>G
|
rs370569855
|
0.00001
|
NM_001329943.3(KIAA0586):c.3948C>T (p.Asn1316=)
|
rs1437021057
|
0.00001
|
NM_001329943.3(KIAA0586):c.4035C>T (p.Pro1345=)
|
rs757412652
|
0.00001
|
NM_001329943.3(KIAA0586):c.411-1389C>T
|
rs1490162703
|
0.00001
|
NM_001329943.3(KIAA0586):c.4137A>G (p.Lys1379=)
|
rs372138430
|
0.00001
|
NM_001329943.3(KIAA0586):c.4185T>C (p.Asp1395=)
|
rs2044165528
|
0.00001
|
NM_001329943.3(KIAA0586):c.420C>T (p.Ser140=)
|
rs900262881
|
0.00001
|
NM_001329943.3(KIAA0586):c.4495+3778T>C
|
rs1022389517
|
0.00001
|
NM_001329943.3(KIAA0586):c.4628C>T (p.Ser1543Leu)
|
rs767347007
|
0.00001
|
NM_001329943.3(KIAA0586):c.726T>C (p.Asp242=)
|
rs1019648840
|
0.00001
|
NM_001329943.3(KIAA0586):c.808-14C>G
|
rs765153409
|
0.00001
|
NM_001329943.3(KIAA0586):c.888T>C (p.Tyr296=)
|
rs541197914
|
0.00001
|
NM_001329943.3(KIAA0586):c.891C>T (p.Ser297=)
|
rs1424135868
|
0.00001
|
NM_001375405.1(CEP120):c.1002G>A (p.Val334=)
|
rs753263238
|
0.00001
|
NM_001375405.1(CEP120):c.108A>C (p.Gly36=)
|
rs1289971154
|
0.00001
|
NM_001375405.1(CEP120):c.1488A>G (p.Glu496=)
|
rs1772033397
|
0.00001
|
NM_001375405.1(CEP120):c.1580+14T>C
|
rs1772025870
|
0.00001
|
NM_001375405.1(CEP120):c.1763+7C>T
|
rs375098616
|
0.00001
|
NM_001375405.1(CEP120):c.2014-20T>A
|
rs1412278670
|
0.00001
|
NM_001375405.1(CEP120):c.2220G>T (p.Leu740=)
|
rs750757836
|
0.00001
|
NM_001375405.1(CEP120):c.2358+11G>A
|
rs778675981
|
0.00001
|
NM_001375405.1(CEP120):c.2358+8A>C
|
rs781621962
|
0.00001
|
NM_001375405.1(CEP120):c.2606G>A (p.Arg869His)
|
rs771132137
|
0.00001
|
NM_001375405.1(CEP120):c.2736A>G (p.Gln912=)
|
rs758997502
|
0.00001
|
NM_001375405.1(CEP120):c.49+19G>A
|
rs1774813689
|
0.00001
|
NM_001375405.1(CEP120):c.50-12C>T
|
rs755652817
|
0.00001
|
NM_001375405.1(CEP120):c.604T>C (p.Leu202=)
|
rs1220874723
|
0.00001
|
NM_001375405.1(CEP120):c.765T>C (p.Ser255=)
|
rs1399621575
|
0.00001
|
NM_001377.3(DYNC2H1):c.1000-7A>G
|
rs745325616
|
0.00001
|
NM_001377.3(DYNC2H1):c.10042+10T>G
|
rs754275993
|
0.00001
|
NM_001377.3(DYNC2H1):c.10207-11del
|
rs748441178
|
0.00001
|
NM_001377.3(DYNC2H1):c.10558T>C (p.Leu3520=)
|
rs759333511
|
0.00001
|
NM_001377.3(DYNC2H1):c.10606-7T>A
|
rs771905098
|
0.00001
|
NM_001377.3(DYNC2H1):c.10848T>G (p.Ser3616=)
|
rs199958495
|
0.00001
|
NM_001377.3(DYNC2H1):c.11049G>A (p.Pro3683=)
|
rs764926983
|
0.00001
|
NM_001377.3(DYNC2H1):c.11095+9G>A
|
rs748308021
|
0.00001
|
NM_001377.3(DYNC2H1):c.11096-12T>C
|
rs553039905
|
0.00001
|
NM_001377.3(DYNC2H1):c.11229T>C (p.Ala3743=)
|
rs762738219
|
0.00001
|
NM_001377.3(DYNC2H1):c.11253C>T (p.His3751=)
|
rs760751244
|
0.00001
|
NM_001377.3(DYNC2H1):c.11412C>G (p.Thr3804=)
|
rs1413586709
|
0.00001
|
NM_001377.3(DYNC2H1):c.11466A>G (p.Leu3822=)
|
rs776029594
|
0.00001
|
NM_001377.3(DYNC2H1):c.11784A>G (p.Gly3928=)
|
rs200386864
|
0.00001
|
NM_001377.3(DYNC2H1):c.11925C>T (p.Cys3975=)
|
rs794727942
|
0.00001
|
NM_001377.3(DYNC2H1):c.11970C>T (p.Asp3990=)
|
rs370818346
|
0.00001
|
NM_001377.3(DYNC2H1):c.12078A>G (p.Thr4026=)
|
rs1940453412
|
0.00001
|
NM_001377.3(DYNC2H1):c.12456+17T>C
|
rs747889821
|
0.00001
|
NM_001377.3(DYNC2H1):c.1248+8A>G
|
rs202130799
|
0.00001
|
NM_001377.3(DYNC2H1):c.1249-20C>T
|
rs979448480
|
0.00001
|
NM_001377.3(DYNC2H1):c.1249-6T>C
|
rs753712960
|
0.00001
|
NM_001377.3(DYNC2H1):c.12495T>C (p.Ser4165=)
|
rs202199079
|
0.00001
|
NM_001377.3(DYNC2H1):c.12622C>T (p.Leu4208=)
|
rs752163457
|
0.00001
|
NM_001377.3(DYNC2H1):c.12693A>G (p.Gln4231=)
|
rs371640317
|
0.00001
|
NM_001377.3(DYNC2H1):c.1419A>G (p.Pro473=)
|
rs549285919
|
0.00001
|
NM_001377.3(DYNC2H1):c.1469G>A (p.Arg490His)
|
rs201484896
|
0.00001
|
NM_001377.3(DYNC2H1):c.1476G>A (p.Leu492=)
|
rs1159451413
|
0.00001
|
NM_001377.3(DYNC2H1):c.1480T>C (p.Leu494=)
|
rs773206463
|
0.00001
|
NM_001377.3(DYNC2H1):c.1506T>C (p.Ile502=)
|
rs754192939
|
0.00001
|
NM_001377.3(DYNC2H1):c.1752A>G (p.Arg584=)
|
rs1257969828
|
0.00001
|
NM_001377.3(DYNC2H1):c.1857+8A>G
|
rs751414927
|
0.00001
|
NM_001377.3(DYNC2H1):c.1858-15A>T
|
rs1325304956
|
0.00001
|
NM_001377.3(DYNC2H1):c.2439T>C (p.Phe813=)
|
rs143172984
|
0.00001
|
NM_001377.3(DYNC2H1):c.2574+9C>T
|
rs777840832
|
0.00001
|
NM_001377.3(DYNC2H1):c.2702+9G>C
|
rs373942624
|
0.00001
|
NM_001377.3(DYNC2H1):c.2703-14T>C
|
rs755481753
|
0.00001
|
NM_001377.3(DYNC2H1):c.2946+16T>C
|
rs767276261
|
0.00001
|
NM_001377.3(DYNC2H1):c.3096+8T>G
|
rs1310378983
|
0.00001
|
NM_001377.3(DYNC2H1):c.3318T>C (p.His1106=)
|
rs1483760923
|
0.00001
|
NM_001377.3(DYNC2H1):c.366+12A>G
|
rs759952846
|
0.00001
|
NM_001377.3(DYNC2H1):c.3807T>C (p.Leu1269=)
|
rs373847672
|
0.00001
|
NM_001377.3(DYNC2H1):c.3915T>C (p.Asn1305=)
|
rs760565304
|
0.00001
|
NM_001377.3(DYNC2H1):c.3969T>C (p.Asp1323=)
|
rs761717668
|
0.00001
|
NM_001377.3(DYNC2H1):c.4233T>C (p.Cys1411=)
|
rs749077356
|
0.00001
|
NM_001377.3(DYNC2H1):c.4260+9T>C
|
rs775413322
|
0.00001
|
NM_001377.3(DYNC2H1):c.4477T>A (p.Ser1493Thr)
|
rs748170980
|
0.00001
|
NM_001377.3(DYNC2H1):c.4611+14C>T
|
rs766124250
|
0.00001
|
NM_001377.3(DYNC2H1):c.4923T>C (p.Cys1641=)
|
rs376188702
|
0.00001
|
NM_001377.3(DYNC2H1):c.4969-12G>A
|
rs1416444641
|
0.00001
|
NM_001377.3(DYNC2H1):c.4969-6G>T
|
rs769738447
|
0.00001
|
NM_001377.3(DYNC2H1):c.519C>T (p.Ser173=)
|
rs753800897
|
0.00001
|
NM_001377.3(DYNC2H1):c.5472T>C (p.Leu1824=)
|
rs886047564
|
0.00001
|
NM_001377.3(DYNC2H1):c.570T>C (p.Ile190=)
|
rs1159253078
|
0.00001
|
NM_001377.3(DYNC2H1):c.5748C>T (p.Thr1916=)
|
rs771940514
|
0.00001
|
NM_001377.3(DYNC2H1):c.5760A>C (p.Ala1920=)
|
rs932048082
|
0.00001
|
NM_001377.3(DYNC2H1):c.6177C>T (p.Asp2059=)
|
rs180806841
|
0.00001
|
NM_001377.3(DYNC2H1):c.6347+19A>G
|
rs781430532
|
0.00001
|
NM_001377.3(DYNC2H1):c.6372T>C (p.Ser2124=)
|
rs1386325793
|
0.00001
|
NM_001377.3(DYNC2H1):c.6723T>C (p.Tyr2241=)
|
rs764773100
|
0.00001
|
NM_001377.3(DYNC2H1):c.7438-12T>C
|
rs746941409
|
0.00001
|
NM_001377.3(DYNC2H1):c.7782A>G (p.Pro2594=)
|
rs886047566
|
0.00001
|
NM_001377.3(DYNC2H1):c.783G>A (p.Arg261=)
|
rs774350008
|
0.00001
|
NM_001377.3(DYNC2H1):c.8346G>A (p.Met2782Ile)
|
rs774895745
|
0.00001
|
NM_001377.3(DYNC2H1):c.8361A>C (p.Ser2787=)
|
rs768132660
|
0.00001
|
NM_001377.3(DYNC2H1):c.8540-19A>G
|
rs1243511944
|
0.00001
|
NM_001377.3(DYNC2H1):c.8943A>G (p.Val2981=)
|
rs1473860564
|
0.00001
|
NM_001377.3(DYNC2H1):c.8991C>T (p.Pro2997=)
|
rs765905797
|
0.00001
|
NM_001377.3(DYNC2H1):c.9300C>G (p.Ser3100=)
|
rs767898390
|
0.00001
|
NM_001377.3(DYNC2H1):c.9354-17A>G
|
rs779447871
|
0.00001
|
NM_001377.3(DYNC2H1):c.9384G>A (p.Arg3128=)
|
rs930832327
|
0.00001
|
NM_001377.3(DYNC2H1):c.9441-15T>G
|
rs758850667
|
0.00001
|
NM_001377.3(DYNC2H1):c.9441-4A>G
|
rs1456316382
|
0.00001
|
NM_001377.3(DYNC2H1):c.9919-20A>G
|
rs555124116
|
0.00001
|
NM_001377.3(DYNC2H1):c.9C>T (p.Asn3=)
|
rs1471623012
|
0.00001
|
NM_014714.4(IFT140):c.1009+11C>T
|
rs761927308
|
0.00001
|
NM_014714.4(IFT140):c.1009+19G>A
|
rs1193125251
|
0.00001
|
NM_014714.4(IFT140):c.1029C>T (p.Thr343=)
|
rs556379159
|
0.00001
|
NM_014714.4(IFT140):c.1072C>T (p.Leu358=)
|
rs2034869421
|
0.00001
|
NM_014714.4(IFT140):c.1077C>T (p.Gly359=)
|
rs757481448
|
0.00001
|
NM_014714.4(IFT140):c.1125C>T (p.Thr375=)
|
rs771792178
|
0.00001
|
NM_014714.4(IFT140):c.1155+8C>T
|
rs757107689
|
0.00001
|
NM_014714.4(IFT140):c.1156-18T>C
|
rs1433160902
|
0.00001
|
NM_014714.4(IFT140):c.1156-8A>C
|
rs1468612818
|
0.00001
|
NM_014714.4(IFT140):c.1219C>T (p.Arg407Trp)
|
rs754373519
|
0.00001
|
NM_014714.4(IFT140):c.1294C>T (p.Leu432=)
|
rs1482041898
|
0.00001
|
NM_014714.4(IFT140):c.1302G>A (p.Thr434=)
|
rs1045923210
|
0.00001
|
NM_014714.4(IFT140):c.1322G>A (p.Arg441His)
|
rs776567773
|
0.00001
|
NM_014714.4(IFT140):c.1326C>T (p.Thr442=)
|
rs748014543
|
0.00001
|
NM_014714.4(IFT140):c.1338C>T (p.Ile446=)
|
rs781745982
|
0.00001
|
NM_014714.4(IFT140):c.1359+17C>T
|
rs767520111
|
0.00001
|
NM_014714.4(IFT140):c.1365T>C (p.Ala455=)
|
rs771279803
|
0.00001
|
NM_014714.4(IFT140):c.1424G>A (p.Arg475Gln)
|
rs776789813
|
0.00001
|
NM_014714.4(IFT140):c.1425G>C (p.Arg475=)
|
rs1312262491
|
0.00001
|
NM_014714.4(IFT140):c.1433-15C>T
|
rs749683523
|
0.00001
|
NM_014714.4(IFT140):c.1452G>A (p.Thr484=)
|
rs914258252
|
0.00001
|
NM_014714.4(IFT140):c.1524+17C>G
|
rs764602004
|
0.00001
|
NM_014714.4(IFT140):c.1527G>A (p.Gly509=)
|
rs777713841
|
0.00001
|
NM_014714.4(IFT140):c.1554G>A (p.Ser518=)
|
rs774109456
|
0.00001
|
NM_014714.4(IFT140):c.1563G>A (p.Glu521=)
|
rs146356094
|
0.00001
|
NM_014714.4(IFT140):c.1602G>C (p.Leu534=)
|
rs778106074
|
0.00001
|
NM_014714.4(IFT140):c.1611G>C (p.Gly537=)
|
rs745415176
|
0.00001
|
NM_014714.4(IFT140):c.1644T>C (p.Leu548=)
|
rs761146898
|
0.00001
|
NM_014714.4(IFT140):c.1652+20A>C
|
rs1300522608
|
0.00001
|
NM_014714.4(IFT140):c.1707G>A (p.Val569=)
|
rs1463801449
|
0.00001
|
NM_014714.4(IFT140):c.1837G>A (p.Asp613Asn)
|
rs200208525
|
0.00001
|
NM_014714.4(IFT140):c.1856T>C (p.Ile619Thr)
|
rs759612242
|
0.00001
|
NM_014714.4(IFT140):c.1872G>A (p.Thr624=)
|
rs775156902
|
0.00001
|
NM_014714.4(IFT140):c.1938T>C (p.Tyr646=)
|
rs752166799
|
0.00001
|
NM_014714.4(IFT140):c.1965G>A (p.Gln655=)
|
rs571683311
|
0.00001
|
NM_014714.4(IFT140):c.1971G>A (p.Glu657=)
|
rs1044429755
|
0.00001
|
NM_014714.4(IFT140):c.1974C>T (p.Pro658=)
|
rs768412481
|
0.00001
|
NM_014714.4(IFT140):c.1977G>A (p.Arg659=)
|
rs1165625635
|
0.00001
|
NM_014714.4(IFT140):c.2067+7T>G
|
rs775453495
|
0.00001
|
NM_014714.4(IFT140):c.2169G>A (p.Met723Ile)
|
rs777432507
|
0.00001
|
NM_014714.4(IFT140):c.2334C>T (p.His778=)
|
rs774009074
|
0.00001
|
NM_014714.4(IFT140):c.2367C>T (p.Asp789=)
|
rs757026549
|
0.00001
|
NM_014714.4(IFT140):c.2400-15C>T
|
rs1342261365
|
0.00001
|
NM_014714.4(IFT140):c.2406C>T (p.Ala802=)
|
rs1164268369
|
0.00001
|
NM_014714.4(IFT140):c.2529G>A (p.Pro843=)
|
rs1045253033
|
0.00001
|
NM_014714.4(IFT140):c.2577+10G>A
|
rs763509815
|
0.00001
|
NM_014714.4(IFT140):c.2577+16C>A
|
rs1168134505
|
0.00001
|
NM_014714.4(IFT140):c.2589G>A (p.Glu863=)
|
rs765470612
|
0.00001
|
NM_014714.4(IFT140):c.2619C>T (p.Asp873=)
|
rs199762967
|
0.00001
|
NM_014714.4(IFT140):c.2646G>A (p.Ala882=)
|
rs149265820
|
0.00001
|
NM_014714.4(IFT140):c.2661G>A (p.Glu887=)
|
rs1287846996
|
0.00001
|
NM_014714.4(IFT140):c.2706C>T (p.Ser902=)
|
rs533750683
|
0.00001
|
NM_014714.4(IFT140):c.2718C>G (p.Arg906=)
|
rs780540683
|
0.00001
|
NM_014714.4(IFT140):c.2751C>T (p.Cys917=)
|
rs368887768
|
0.00001
|
NM_014714.4(IFT140):c.2758G>T (p.Ala920Ser)
|
rs566450108
|
0.00001
|
NM_014714.4(IFT140):c.2796C>T (p.Phe932=)
|
rs765939872
|
0.00001
|
NM_014714.4(IFT140):c.2862T>C (p.Asp954=)
|
rs747349401
|
0.00001
|
NM_014714.4(IFT140):c.2865-5C>T
|
rs779711939
|
0.00001
|
NM_014714.4(IFT140):c.2916C>T (p.Asp972=)
|
rs148945612
|
0.00001
|
NM_014714.4(IFT140):c.2934C>T (p.Tyr978=)
|
rs777862012
|
0.00001
|
NM_014714.4(IFT140):c.2945G>A (p.Arg982Gln)
|
rs766316995
|
0.00001
|
NM_014714.4(IFT140):c.2970C>T (p.Ile990=)
|
rs375635975
|
0.00001
|
NM_014714.4(IFT140):c.298C>G (p.Leu100Val)
|
rs546498421
|
0.00001
|
NM_014714.4(IFT140):c.3048C>T (p.Leu1016=)
|
rs753196603
|
0.00001
|
NM_014714.4(IFT140):c.3060C>T (p.Tyr1020=)
|
rs545658252
|
0.00001
|
NM_014714.4(IFT140):c.3129C>T (p.Ile1043=)
|
rs2040617691
|
0.00001
|
NM_014714.4(IFT140):c.3141+13C>T
|
rs1189568433
|
0.00001
|
NM_014714.4(IFT140):c.3141+7C>T
|
rs754889709
|
0.00001
|
NM_014714.4(IFT140):c.3165C>A (p.Leu1055=)
|
rs1189584534
|
0.00001
|
NM_014714.4(IFT140):c.3204C>T (p.Ile1068=)
|
rs764399101
|
0.00001
|
NM_014714.4(IFT140):c.321C>T (p.Thr107=)
|
rs374346968
|
0.00001
|
NM_014714.4(IFT140):c.3234C>T (p.Gly1078=)
|
rs200748918
|
0.00001
|
NM_014714.4(IFT140):c.3270+16C>T
|
rs1482911649
|
0.00001
|
NM_014714.4(IFT140):c.3271-10G>A
|
rs764938152
|
0.00001
|
NM_014714.4(IFT140):c.3271-17G>T
|
rs1297843458
|
0.00001
|
NM_014714.4(IFT140):c.3303C>T (p.Ala1101=)
|
rs771939015
|
0.00001
|
NM_014714.4(IFT140):c.3327C>T (p.Ala1109=)
|
rs1264860860
|
0.00001
|
NM_014714.4(IFT140):c.3336C>T (p.Leu1112=)
|
rs372114503
|
0.00001
|
NM_014714.4(IFT140):c.3399C>T (p.Phe1133=)
|
rs902953810
|
0.00001
|
NM_014714.4(IFT140):c.3402C>T (p.Ile1134=)
|
rs761692949
|
0.00001
|
NM_014714.4(IFT140):c.3501C>T (p.Thr1167=)
|
rs377319314
|
0.00001
|
NM_014714.4(IFT140):c.3525C>G (p.Thr1175=)
|
rs752664070
|
0.00001
|
NM_014714.4(IFT140):c.352C>T (p.Leu118=)
|
rs201381885
|
0.00001
|
NM_014714.4(IFT140):c.3596G>A (p.Cys1199Tyr)
|
rs535064774
|
0.00001
|
NM_014714.4(IFT140):c.3669G>A (p.Arg1223=)
|
rs2040482751
|
0.00001
|
NM_014714.4(IFT140):c.3672G>A (p.Ala1224=)
|
rs765766910
|
0.00001
|
NM_014714.4(IFT140):c.36G>A (p.Pro12=)
|
rs574028286
|
0.00001
|
NM_014714.4(IFT140):c.3704C>T (p.Thr1235Met)
|
rs767997025
|
0.00001
|
NM_014714.4(IFT140):c.3705G>A (p.Thr1235=)
|
rs748820042
|
0.00001
|
NM_014714.4(IFT140):c.3760C>T (p.Leu1254=)
|
rs750847611
|
0.00001
|
NM_014714.4(IFT140):c.3762G>A (p.Leu1254=)
|
rs1387148284
|
0.00001
|
NM_014714.4(IFT140):c.3789G>A (p.Pro1263=)
|
rs769211167
|
0.00001
|
NM_014714.4(IFT140):c.3810C>T (p.Ile1270=)
|
rs557923123
|
0.00001
|
NM_014714.4(IFT140):c.3864T>C (p.Ala1288=)
|
rs1181821502
|
0.00001
|
NM_014714.4(IFT140):c.3873+19A>G
|
rs894285113
|
0.00001
|
NM_014714.4(IFT140):c.3876G>A (p.Val1292=)
|
rs986239975
|
0.00001
|
NM_014714.4(IFT140):c.3885T>C (p.Asp1295=)
|
rs140443906
|
0.00001
|
NM_014714.4(IFT140):c.3912C>T (p.His1304=)
|
rs143385994
|
0.00001
|
NM_014714.4(IFT140):c.3918G>A (p.Ala1306=)
|
rs767354864
|
0.00001
|
NM_014714.4(IFT140):c.3966C>T (p.Pro1322=)
|
rs181794285
|
0.00001
|
NM_014714.4(IFT140):c.3989C>T (p.Ala1330Val)
|
rs376151586
|
0.00001
|
NM_014714.4(IFT140):c.4026C>T (p.Phe1342=)
|
rs776522454
|
0.00001
|
NM_014714.4(IFT140):c.4040+20G>A
|
rs758371286
|
0.00001
|
NM_014714.4(IFT140):c.4041-6C>T
|
rs1596295050
|
0.00001
|
NM_014714.4(IFT140):c.4044G>A (p.Thr1348=)
|
rs1034482228
|
0.00001
|
NM_014714.4(IFT140):c.4056C>T (p.Asp1352=)
|
rs140265753
|
0.00001
|
NM_014714.4(IFT140):c.4146G>A (p.Leu1382=)
|
rs904518816
|
0.00001
|
NM_014714.4(IFT140):c.4182+18C>G
|
rs371900494
|
0.00001
|
NM_014714.4(IFT140):c.4183-16T>G
|
rs759566930
|
0.00001
|
NM_014714.4(IFT140):c.4195C>T (p.Leu1399=)
|
rs910636195
|
0.00001
|
NM_014714.4(IFT140):c.4200G>A (p.Glu1400=)
|
rs986247813
|
0.00001
|
NM_014714.4(IFT140):c.4251G>A (p.Pro1417=)
|
rs773095902
|
0.00001
|
NM_014714.4(IFT140):c.4257C>T (p.Ala1419=)
|
rs535810761
|
0.00001
|
NM_014714.4(IFT140):c.4278G>T (p.Gly1426=)
|
rs200161877
|
0.00001
|
NM_014714.4(IFT140):c.4338C>T (p.Asp1446=)
|
rs779634878
|
0.00001
|
NM_014714.4(IFT140):c.4362G>T (p.Val1454=)
|
rs763213109
|
0.00001
|
NM_014714.4(IFT140):c.4378G>A (p.Asp1460Asn)
|
rs777181948
|
0.00001
|
NM_014714.4(IFT140):c.441G>A (p.Glu147=)
|
rs62040002
|
0.00001
|
NM_014714.4(IFT140):c.609G>A (p.Leu203=)
|
rs1032107314
|
0.00001
|
NM_014714.4(IFT140):c.621C>T (p.Val207=)
|
rs1257821160
|
0.00001
|
NM_014714.4(IFT140):c.635-20G>A
|
rs770147783
|
0.00001
|
NM_014714.4(IFT140):c.642G>A (p.Val214=)
|
rs765268078
|
0.00001
|
NM_014714.4(IFT140):c.849C>T (p.Ile283=)
|
rs563162000
|
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_014714.4(IFT140):c.885C>T (p.Val295=)
|
rs775444392
|
0.00001
|
NM_014714.4(IFT140):c.900C>T (p.Leu300=)
|
rs1282920198
|
0.00001
|
NM_014714.4(IFT140):c.903-13T>G
|
rs748649022
|
0.00001
|
NM_015662.3(IFT172):c.108G>A (p.Val36=)
|
rs1251466028
|
0.00001
|
NM_015662.3(IFT172):c.1092A>G (p.Gly364=)
|
rs575297457
|
0.00001
|
NM_015662.3(IFT172):c.1242C>T (p.Ala414=)
|
rs970385102
|
0.00001
|
NM_015662.3(IFT172):c.1314C>G (p.Pro438=)
|
rs1435972299
|
0.00001
|
NM_015662.3(IFT172):c.1371G>A (p.Lys457=)
|
rs759436301
|
0.00001
|
NM_015662.3(IFT172):c.1411+17C>T
|
rs1333168893
|
0.00001
|
NM_015662.3(IFT172):c.141A>G (p.Gly47=)
|
rs759962675
|
0.00001
|
NM_015662.3(IFT172):c.1443C>T (p.Thr481=)
|
rs780600337
|
0.00001
|
NM_015662.3(IFT172):c.1512C>T (p.Asp504=)
|
rs746321444
|
0.00001
|
NM_015662.3(IFT172):c.1572C>T (p.Asn524=)
|
rs1208242658
|
0.00001
|
NM_015662.3(IFT172):c.1719C>T (p.Gly573=)
|
rs373009930
|
0.00001
|
NM_015662.3(IFT172):c.1731C>G (p.Thr577=)
|
rs369849820
|
0.00001
|
NM_015662.3(IFT172):c.1773A>G (p.Thr591=)
|
rs1415381763
|
0.00001
|
NM_015662.3(IFT172):c.183+7A>G
|
rs1357322553
|
0.00001
|
NM_015662.3(IFT172):c.1929T>C (p.Ile643=)
|
rs375541145
|
0.00001
|
NM_015662.3(IFT172):c.1935G>A (p.Glu645=)
|
rs755341436
|
0.00001
|
NM_015662.3(IFT172):c.2022+13C>T
|
rs905264258
|
0.00001
|
NM_015662.3(IFT172):c.2022+7A>G
|
rs773433922
|
0.00001
|
NM_015662.3(IFT172):c.2023-18C>T
|
rs780624216
|
0.00001
|
NM_015662.3(IFT172):c.2023-7C>T
|
rs758190461
|
0.00001
|
NM_015662.3(IFT172):c.2025C>T (p.Gly675=)
|
rs762659921
|
0.00001
|
NM_015662.3(IFT172):c.2115+15G>A
|
rs764321777
|
0.00001
|
NM_015662.3(IFT172):c.2127G>A (p.Glu709=)
|
rs752839444
|
0.00001
|
NM_015662.3(IFT172):c.2175C>T (p.Ile725=)
|
rs535676099
|
0.00001
|
NM_015662.3(IFT172):c.2208G>A (p.Leu736=)
|
rs1235366375
|
0.00001
|
NM_015662.3(IFT172):c.2427G>A (p.Gly809=)
|
rs760908963
|
0.00001
|
NM_015662.3(IFT172):c.2442+13C>T
|
rs749766704
|
0.00001
|
NM_015662.3(IFT172):c.2601G>A (p.Gln867=)
|
rs1406843732
|
0.00001
|
NM_015662.3(IFT172):c.2634C>T (p.Ile878=)
|
rs761022629
|
0.00001
|
NM_015662.3(IFT172):c.2643-18C>A
|
rs922995821
|
0.00001
|
NM_015662.3(IFT172):c.270C>A (p.Ile90=)
|
rs759058747
|
0.00001
|
NM_015662.3(IFT172):c.2724G>A (p.Arg908=)
|
rs367662405
|
0.00001
|
NM_015662.3(IFT172):c.2751C>T (p.Leu917=)
|
rs777958898
|
0.00001
|
NM_015662.3(IFT172):c.2796G>A (p.Glu932=)
|
rs566830176
|
0.00001
|
NM_015662.3(IFT172):c.2919A>G (p.Leu973=)
|
rs1480327016
|
0.00001
|
NM_015662.3(IFT172):c.2975+8G>A
|
rs750348734
|
0.00001
|
NM_015662.3(IFT172):c.2982T>C (p.Tyr994=)
|
rs757083011
|
0.00001
|
NM_015662.3(IFT172):c.3103C>T (p.Leu1035=)
|
rs1029240622
|
0.00001
|
NM_015662.3(IFT172):c.336+20C>G
|
rs1412070265
|
0.00001
|
NM_015662.3(IFT172):c.337-11C>T
|
rs745921292
|
0.00001
|
NM_015662.3(IFT172):c.3387G>A (p.Ala1129=)
|
rs369025741
|
0.00001
|
NM_015662.3(IFT172):c.3465+10T>C
|
rs780429245
|
0.00001
|
NM_015662.3(IFT172):c.3465+9G>A
|
rs1665997491
|
0.00001
|
NM_015662.3(IFT172):c.3530+11C>G
|
rs777469179
|
0.00001
|
NM_015662.3(IFT172):c.3531-11C>A
|
rs1489039902
|
0.00001
|
NM_015662.3(IFT172):c.354G>A (p.Leu118=)
|
rs757988462
|
0.00001
|
NM_015662.3(IFT172):c.3582C>T (p.His1194=)
|
rs376037251
|
0.00001
|
NM_015662.3(IFT172):c.3615A>G (p.Gly1205=)
|
rs768132019
|
0.00001
|
NM_015662.3(IFT172):c.363G>A (p.Pro121=)
|
rs761759245
|
0.00001
|
NM_015662.3(IFT172):c.3732C>T (p.Asp1244=)
|
rs370204045
|
0.00001
|
NM_015662.3(IFT172):c.3756T>C (p.Tyr1252=)
|
rs759026392
|
0.00001
|
NM_015662.3(IFT172):c.3769C>T (p.Leu1257=)
|
rs373382907
|
0.00001
|
NM_015662.3(IFT172):c.3821+20G>T
|
rs747215115
|
0.00001
|
NM_015662.3(IFT172):c.3822-19A>T
|
rs1204452162
|
0.00001
|
NM_015662.3(IFT172):c.3924C>T (p.Ser1308=)
|
rs764778967
|
0.00001
|
NM_015662.3(IFT172):c.3927C>T (p.Gly1309=)
|
rs768633686
|
0.00001
|
NM_015662.3(IFT172):c.3984C>T (p.Pro1328=)
|
rs1384062308
|
0.00001
|
NM_015662.3(IFT172):c.40-10G>T
|
rs769327900
|
0.00001
|
NM_015662.3(IFT172):c.4014A>G (p.Val1338=)
|
rs527544045
|
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.4230G>A (p.Val1410=)
|
rs145041736
|
0.00001
|
NM_015662.3(IFT172):c.4248T>C (p.Ala1416=)
|
rs754200053
|
0.00001
|
NM_015662.3(IFT172):c.42T>C (p.Asp14=)
|
rs1668694687
|
0.00001
|
NM_015662.3(IFT172):c.4312-10C>T
|
rs767163406
|
0.00001
|
NM_015662.3(IFT172):c.4312-9C>T
|
rs1665420944
|
0.00001
|
NM_015662.3(IFT172):c.4539+11G>A
|
rs756814532
|
0.00001
|
NM_015662.3(IFT172):c.4539+18C>T
|
rs771718287
|
0.00001
|
NM_015662.3(IFT172):c.4540-13C>T
|
rs1665265846
|
0.00001
|
NM_015662.3(IFT172):c.4540-20G>T
|
rs538748702
|
0.00001
|
NM_015662.3(IFT172):c.4611C>T (p.Ile1537=)
|
rs901644807
|
0.00001
|
NM_015662.3(IFT172):c.4659+18G>A
|
rs757297478
|
0.00001
|
NM_015662.3(IFT172):c.4878C>T (p.Pro1626=)
|
rs773180868
|
0.00001
|
NM_015662.3(IFT172):c.4893C>A (p.Leu1631=)
|
rs1237678953
|
0.00001
|
NM_015662.3(IFT172):c.5010C>T (p.Tyr1670=)
|
rs1459018703
|
0.00001
|
NM_015662.3(IFT172):c.5050C>T (p.Leu1684=)
|
rs1350772419
|
0.00001
|
NM_015662.3(IFT172):c.5124C>A (p.Asn1708Lys)
|
rs868748622
|
0.00001
|
NM_015662.3(IFT172):c.516A>G (p.Ala172=)
|
rs1302439397
|
0.00001
|
NM_015662.3(IFT172):c.570+19G>A
|
rs761066634
|
0.00001
|
NM_015662.3(IFT172):c.582T>C (p.Val194=)
|
rs533475435
|
0.00001
|
NM_015662.3(IFT172):c.591G>A (p.Pro197=)
|
rs747654101
|
0.00001
|
NM_015662.3(IFT172):c.690A>G (p.Gln230=)
|
rs892639684
|
0.00001
|
NM_015662.3(IFT172):c.6C>T (p.His2=)
|
rs1430470069
|
0.00001
|
NM_015662.3(IFT172):c.786-15C>T
|
rs200145274
|
0.00001
|
NM_015662.3(IFT172):c.786-16A>G
|
rs769974669
|
0.00001
|
NM_015662.3(IFT172):c.798C>T (p.Phe266=)
|
rs755850960
|
0.00001
|
NM_015662.3(IFT172):c.909+12G>C
|
rs752407974
|
0.00001
|
NM_015662.3(IFT172):c.936G>A (p.Gln312=)
|
rs139291216
|
0.00001
|
NM_018051.5(DYNC2I1):c.1059+14G>A
|
rs112908949
|
0.00001
|
NM_018051.5(DYNC2I1):c.1113A>G (p.Thr371=)
|
rs1353546702
|
0.00001
|
NM_018051.5(DYNC2I1):c.1194A>G (p.Glu398=)
|
rs753716236
|
0.00001
|
NM_018051.5(DYNC2I1):c.1287G>A (p.Arg429=)
|
rs375910832
|
0.00001
|
NM_018051.5(DYNC2I1):c.15+17G>A
|
rs1006527590
|
0.00001
|
NM_018051.5(DYNC2I1):c.1703-13del
|
rs558243779
|
0.00001
|
NM_018051.5(DYNC2I1):c.1983C>T (p.His661=)
|
rs570560884
|
0.00001
|
NM_018051.5(DYNC2I1):c.2247G>A (p.Thr749=)
|
rs779502233
|
0.00001
|
NM_018051.5(DYNC2I1):c.2257+15C>T
|
rs993369163
|
0.00001
|
NM_018051.5(DYNC2I1):c.2349T>C (p.Leu783=)
|
rs1159300009
|
0.00001
|
NM_018051.5(DYNC2I1):c.2388C>A (p.Ser796=)
|
rs758510154
|
0.00001
|
NM_018051.5(DYNC2I1):c.2781C>T (p.Ala927=)
|
rs748457877
|
0.00001
|
NM_018051.5(DYNC2I1):c.2823C>T (p.Ser941=)
|
rs762674535
|
0.00001
|
NM_018051.5(DYNC2I1):c.609G>A (p.Lys203=)
|
rs760059618
|
0.00001
|
NM_018051.5(DYNC2I1):c.678A>G (p.Lys226=)
|
rs759760480
|
0.00001
|
NM_018051.5(DYNC2I1):c.880-17A>G
|
rs753464984
|
0.00001
|
NM_018051.5(DYNC2I1):c.936-19G>A
|
rs752292407
|
0.00001
|
NM_020779.4(WDR35):c.1009-18T>A
|
rs113816809
|
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.1446G>A (p.Val482=)
|
rs569920075
|
0.00001
|
NM_020779.4(WDR35):c.1662A>T (p.Gly554=)
|
rs767878828
|
0.00001
|
NM_020779.4(WDR35):c.2157T>C (p.Phe719=)
|
rs755951192
|
0.00001
|
NM_020779.4(WDR35):c.2220C>T (p.Phe740=)
|
rs535522970
|
0.00001
|
NM_020779.4(WDR35):c.2268-11T>G
|
rs745664606
|
0.00001
|
NM_020779.4(WDR35):c.24+9C>T
|
rs754703472
|
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.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.378C>T (p.Asp126=)
|
rs770081985
|
0.00001
|
NM_020779.4(WDR35):c.666T>A (p.Pro222=)
|
rs987346249
|
0.00001
|
NM_020779.4(WDR35):c.761T>C (p.Met254Thr)
|
rs547986777
|
0.00001
|
NM_020800.3(IFT80):c.1053G>A (p.Thr351=)
|
rs746236656
|
0.00001
|
NM_020800.3(IFT80):c.1151+15T>A
|
rs1334712064
|
0.00001
|
NM_020800.3(IFT80):c.1151+8A>G
|
rs759719560
|
0.00001
|
NM_020800.3(IFT80):c.1215A>G (p.Ser405=)
|
rs761190913
|
0.00001
|
NM_020800.3(IFT80):c.1293A>T (p.Ile431=)
|
rs1716374776
|
0.00001
|
NM_020800.3(IFT80):c.1315+8T>C
|
rs765339125
|
0.00001
|
NM_020800.3(IFT80):c.1326C>T (p.Leu442=)
|
rs886058131
|
0.00001
|
NM_020800.3(IFT80):c.1341C>T (p.Thr447=)
|
rs779074288
|
0.00001
|
NM_020800.3(IFT80):c.1554C>T (p.Cys518=)
|
rs1163987189
|
0.00001
|
NM_020800.3(IFT80):c.1560C>T (p.Ile520=)
|
rs572926587
|
0.00001
|
NM_020800.3(IFT80):c.156G>A (p.Lys52=)
|
rs746919440
|
0.00001
|
NM_020800.3(IFT80):c.1664+15C>T
|
rs752199749
|
0.00001
|
NM_020800.3(IFT80):c.1664+8T>C
|
rs755731425
|
0.00001
|
NM_020800.3(IFT80):c.1665-15T>C
|
rs749606176
|
0.00001
|
NM_020800.3(IFT80):c.1962T>C (p.Asn654=)
|
rs757868715
|
0.00001
|
NM_020800.3(IFT80):c.2151T>A (p.Ala717=)
|
rs749975436
|
0.00001
|
NM_020800.3(IFT80):c.260-9T>G
|
rs1366678504
|
0.00001
|
NM_020800.3(IFT80):c.348T>C (p.Tyr116=)
|
rs1223074347
|
0.00001
|
NM_020800.3(IFT80):c.37+20A>G
|
rs1382715287
|
0.00001
|
NM_020800.3(IFT80):c.371-11T>C
|
rs1339121948
|
0.00001
|
NM_020800.3(IFT80):c.371-7T>C
|
rs773095033
|
0.00001
|
NM_020800.3(IFT80):c.440-12T>G
|
rs748442129
|
0.00001
|
NM_020800.3(IFT80):c.440-8T>A
|
rs367575772
|
0.00001
|
NM_020800.3(IFT80):c.612A>G (p.Leu204=)
|
rs1359553849
|
0.00001
|
NM_020800.3(IFT80):c.639+5A>G
|
rs527856744
|
0.00001
|
NM_020800.3(IFT80):c.819T>C (p.Phe273=)
|
rs1576803474
|
0.00001
|
NM_020800.3(IFT80):c.837C>T (p.Ile279=)
|
rs750697170
|
0.00001
|
NM_020800.3(IFT80):c.939G>A (p.Thr313=)
|
rs763666588
|
0.00001
|
NM_020800.3(IFT80):c.958-7T>C
|
rs766913544
|
0.00001
|
NM_020800.3(IFT80):c.991C>T (p.Leu331=)
|
rs920853278
|
0.00001
|
NM_024753.5(TTC21B):c.1014A>G (p.Gly338=)
|
rs1213663988
|
0.00001
|
NM_024753.5(TTC21B):c.1087+9A>G
|
rs377071324
|
0.00001
|
NM_024753.5(TTC21B):c.1089A>G (p.Gly363=)
|
rs760376956
|
0.00001
|
NM_024753.5(TTC21B):c.1122A>G (p.Leu374=)
|
rs1686814599
|
0.00001
|
NM_024753.5(TTC21B):c.1386+15G>A
|
rs201281283
|
0.00001
|
NM_024753.5(TTC21B):c.1428T>C (p.Arg476=)
|
rs376312170
|
0.00001
|
NM_024753.5(TTC21B):c.1441C>T (p.Leu481=)
|
rs773128226
|
0.00001
|
NM_024753.5(TTC21B):c.1516+20del
|
rs1559062651
|
0.00001
|
NM_024753.5(TTC21B):c.1542C>T (p.Asn514=)
|
rs1422092714
|
0.00001
|
NM_024753.5(TTC21B):c.1548G>A (p.Gln516=)
|
rs757424964
|
0.00001
|
NM_024753.5(TTC21B):c.1710T>G (p.Ala570=)
|
rs766982980
|
0.00001
|
NM_024753.5(TTC21B):c.1900-20T>A
|
rs1216094746
|
0.00001
|
NM_024753.5(TTC21B):c.2046C>T (p.Ala682=)
|
rs766532748
|
0.00001
|
NM_024753.5(TTC21B):c.2121A>G (p.Leu707=)
|
rs778283781
|
0.00001
|
NM_024753.5(TTC21B):c.2139-13G>A
|
rs1686040312
|
0.00001
|
NM_024753.5(TTC21B):c.2258C>T (p.Pro753Leu)
|
rs539769126
|
0.00001
|
NM_024753.5(TTC21B):c.2569-6T>C
|
rs761010837
|
0.00001
|
NM_024753.5(TTC21B):c.256A>C (p.Asn86His)
|
rs773555238
|
0.00001
|
NM_024753.5(TTC21B):c.2754T>C (p.Asn918=)
|
rs139668120
|
0.00001
|
NM_024753.5(TTC21B):c.2816G>A (p.Arg939Gln)
|
rs751382210
|
0.00001
|
NM_024753.5(TTC21B):c.2868+18C>G
|
rs189515413
|
0.00001
|
NM_024753.5(TTC21B):c.2967A>G (p.Leu989=)
|
rs749030495
|
0.00001
|
NM_024753.5(TTC21B):c.3084T>C (p.Cys1028=)
|
rs750764688
|
0.00001
|
NM_024753.5(TTC21B):c.3114A>G (p.Glu1038=)
|
rs1436732135
|
0.00001
|
NM_024753.5(TTC21B):c.3135T>C (p.His1045=)
|
rs370063297
|
0.00001
|
NM_024753.5(TTC21B):c.3144A>G (p.Lys1048=)
|
rs762837601
|
0.00001
|
NM_024753.5(TTC21B):c.3273T>G (p.Thr1091=)
|
rs1295298917
|
0.00001
|
NM_024753.5(TTC21B):c.338A>G (p.His113Arg)
|
rs146865517
|
0.00001
|
NM_024753.5(TTC21B):c.3450A>G (p.Ala1150=)
|
rs767037992
|
0.00001
|
NM_024753.5(TTC21B):c.3513A>G (p.Lys1171=)
|
rs370432759
|
0.00001
|
NM_024753.5(TTC21B):c.3685-9T>C
|
rs777313475
|
0.00001
|
NM_024753.5(TTC21B):c.3702T>C (p.Tyr1234=)
|
rs376746146
|
0.00001
|
NM_024753.5(TTC21B):c.3714A>T (p.Gly1238=)
|
rs760683105
|
0.00001
|
NM_024753.5(TTC21B):c.3780T>C (p.Tyr1260=)
|
rs769230631
|
0.00001
|
NM_024753.5(TTC21B):c.3873+7A>T
|
rs745875005
|
0.00001
|
NM_024753.5(TTC21B):c.3874-13A>G
|
rs910204066
|
0.00001
|
NM_024753.5(TTC21B):c.3936G>A (p.Ala1312=)
|
rs201470854
|
0.00001
|
NM_024753.5(TTC21B):c.435C>T (p.His145=)
|
rs775319794
|
0.00001
|
NM_024753.5(TTC21B):c.576G>A (p.Gln192=)
|
rs762917784
|
0.00001
|
NM_024753.5(TTC21B):c.592C>T (p.Leu198=)
|
rs1320998801
|
0.00001
|
NM_024753.5(TTC21B):c.681T>C (p.Asp227=)
|
rs376038966
|
0.00001
|
NM_024753.5(TTC21B):c.705A>G (p.Ala235=)
|
rs1435067397
|
0.00001
|
NM_024753.5(TTC21B):c.715C>T (p.Leu239=)
|
rs761170872
|
0.00001
|
NM_024753.5(TTC21B):c.796-20del
|
rs753564394
|
0.00001
|
NM_024753.5(TTC21B):c.894+13A>G
|
rs780758585
|
0.00001
|
NM_024753.5(TTC21B):c.895-7T>C
|
rs749142305
|
0.00001
|
NM_024753.5(TTC21B):c.912T>G (p.Leu304=)
|
rs780519055
|
0.00001
|
NM_025132.4(WDR19):c.1086C>T (p.Ala362=)
|
rs747988894
|
0.00001
|
NM_025132.4(WDR19):c.1350A>G (p.Leu450=)
|
rs770470368
|
0.00001
|
NM_025132.4(WDR19):c.1377T>C (p.Asp459=)
|
rs1376377023
|
0.00001
|
NM_025132.4(WDR19):c.141A>G (p.Lys47=)
|
rs749387746
|
0.00001
|
NM_025132.4(WDR19):c.1488C>T (p.Val496=)
|
rs868438531
|
0.00001
|
NM_025132.4(WDR19):c.1542T>C (p.Pro514=)
|
rs1162371392
|
0.00001
|
NM_025132.4(WDR19):c.164+12A>G
|
rs776617179
|
0.00001
|
NM_025132.4(WDR19):c.1932G>A (p.Thr644=)
|
rs886059398
|
0.00001
|
NM_025132.4(WDR19):c.1941C>T (p.Asp647=)
|
rs753924776
|
0.00001
|
NM_025132.4(WDR19):c.2007C>T (p.Cys669=)
|
rs1220683360
|
0.00001
|
NM_025132.4(WDR19):c.2142+16T>C
|
rs1264244974
|
0.00001
|
NM_025132.4(WDR19):c.2220C>T (p.Tyr740=)
|
rs762882447
|
0.00001
|
NM_025132.4(WDR19):c.2325T>G (p.Pro775=)
|
rs753638155
|
0.00001
|
NM_025132.4(WDR19):c.234C>T (p.Cys78=)
|
rs1232301082
|
0.00001
|
NM_025132.4(WDR19):c.2364-13del
|
rs1293062183
|
0.00001
|
NM_025132.4(WDR19):c.2364-16C>G
|
rs780933216
|
0.00001
|
NM_025132.4(WDR19):c.2364-18C>G
|
rs1357135173
|
0.00001
|
NM_025132.4(WDR19):c.2646-5T>C
|
rs771971475
|
0.00001
|
NM_025132.4(WDR19):c.2730-10T>A
|
rs767979793
|
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.2877-17A>G
|
rs372257071
|
0.00001
|
NM_025132.4(WDR19):c.290+20T>G
|
rs1322796832
|
0.00001
|
NM_025132.4(WDR19):c.3115-10C>T
|
rs775640673
|
0.00001
|
NM_025132.4(WDR19):c.3184-14C>T
|
rs761439271
|
0.00001
|
NM_025132.4(WDR19):c.3354T>G (p.Ser1118=)
|
rs763549620
|
0.00001
|
NM_025132.4(WDR19):c.3358+8C>T
|
rs368200969
|
0.00001
|
NM_025132.4(WDR19):c.3399T>C (p.Tyr1133=)
|
rs1456107767
|
0.00001
|
NM_025132.4(WDR19):c.3607A>C (p.Arg1203=)
|
rs1394483779
|
0.00001
|
NM_025132.4(WDR19):c.3630T>C (p.Ala1210=)
|
rs1314442616
|
0.00001
|
NM_025132.4(WDR19):c.3750G>A (p.Thr1250=)
|
rs761318983
|
0.00001
|
NM_025132.4(WDR19):c.3801T>C (p.Cys1267=)
|
rs769702825
|
0.00001
|
NM_025132.4(WDR19):c.3900A>G (p.Leu1300=)
|
rs753236230
|
0.00001
|
NM_025132.4(WDR19):c.3936C>T (p.Ser1312=)
|
rs200255703
|
0.00001
|
NM_025132.4(WDR19):c.3966C>T (p.Asn1322=)
|
rs767906377
|
0.00001
|
NM_025132.4(WDR19):c.426C>T (p.Ile142=)
|
rs377419343
|
0.00001
|
NM_025132.4(WDR19):c.42C>T (p.Gly14=)
|
rs531575276
|
0.00001
|
NM_025132.4(WDR19):c.438T>C (p.Cys146=)
|
rs183950055
|
0.00001
|
NM_025132.4(WDR19):c.522+9G>A
|
rs759274849
|
0.00001
|
NM_025132.4(WDR19):c.604-10T>C
|
rs766591103
|
0.00001
|
NM_025132.4(WDR19):c.609T>C (p.Ser203=)
|
rs755179058
|
0.00001
|
NM_025132.4(WDR19):c.783T>C (p.Thr261=)
|
rs748548123
|
0.00001
|
NM_025132.4(WDR19):c.78A>G (p.Gly26=)
|
rs1428236221
|
0.00001
|
NM_025132.4(WDR19):c.81C>T (p.Asn27=)
|
rs1351039516
|
0.00001
|
NM_052844.4(DYNC2I2):c.1014G>A (p.Thr338=)
|
rs775718174
|
0.00001
|
NM_052844.4(DYNC2I2):c.1038C>T (p.Asp346=)
|
rs1203198115
|
0.00001
|
NM_052844.4(DYNC2I2):c.1146C>T (p.Ala382=)
|
rs762641265
|
0.00001
|
NM_052844.4(DYNC2I2):c.1332C>T (p.Ser444=)
|
rs376351607
|
0.00001
|
NM_052844.4(DYNC2I2):c.1431G>A (p.Lys477=)
|
rs769045630
|
0.00001
|
NM_052844.4(DYNC2I2):c.1500G>A (p.Ala500=)
|
rs760332947
|
0.00001
|
NM_052844.4(DYNC2I2):c.1506T>C (p.Asp502=)
|
rs1054532891
|
0.00001
|
NM_052844.4(DYNC2I2):c.1569A>G (p.Glu523=)
|
rs777478835
|
0.00001
|
NM_052844.4(DYNC2I2):c.405C>T (p.Phe135=)
|
rs772333040
|
0.00001
|
NM_052844.4(DYNC2I2):c.498C>T (p.Ser166=)
|
rs1464019566
|
0.00001
|
NM_052844.4(DYNC2I2):c.540C>T (p.Tyr180=)
|
rs542055273
|
0.00001
|
NM_052844.4(DYNC2I2):c.60G>A (p.Ala20=)
|
rs1308508874
|
0.00001
|
NM_052844.4(DYNC2I2):c.633G>A (p.Ser211=)
|
rs376954350
|
0.00001
|
NM_052844.4(DYNC2I2):c.693C>T (p.Ser231=)
|
rs1369315948
|
0.00001
|
NM_052844.4(DYNC2I2):c.699C>T (p.Val233=)
|
rs1354880824
|
0.00001
|
NM_052844.4(DYNC2I2):c.876C>T (p.Asp292=)
|
rs558962462
|
0.00001
|
NM_052844.4(DYNC2I2):c.981+15G>A
|
rs757554076
|
0.00001
|
NM_147127.5(EVC2):c.1006-7C>T
|
rs760800233
|
0.00001
|
NM_147127.5(EVC2):c.1035C>G (p.Pro345=)
|
rs1719022666
|
0.00001
|
NM_147127.5(EVC2):c.1056T>C (p.Asp352=)
|
rs900466909
|
0.00001
|
NM_147127.5(EVC2):c.1062G>A (p.Val354=)
|
rs756157217
|
0.00001
|
NM_147127.5(EVC2):c.1107T>C (p.Ser369=)
|
rs776250707
|
0.00001
|
NM_147127.5(EVC2):c.1134A>G (p.Gln378=)
|
rs756310412
|
0.00001
|
NM_147127.5(EVC2):c.1146-9G>T
|
rs774847750
|
0.00001
|
NM_147127.5(EVC2):c.1245C>G (p.Thr415=)
|
rs747208576
|
0.00001
|
NM_147127.5(EVC2):c.1380G>C (p.Leu460=)
|
rs1438407396
|
0.00001
|
NM_147127.5(EVC2):c.1392G>A (p.Lys464=)
|
rs1362654881
|
0.00001
|
NM_147127.5(EVC2):c.1440A>G (p.Ala480=)
|
rs779955202
|
0.00001
|
NM_147127.5(EVC2):c.1455A>G (p.Lys485=)
|
rs1371814417
|
0.00001
|
NM_147127.5(EVC2):c.1476T>C (p.Ala492=)
|
rs141479252
|
0.00001
|
NM_147127.5(EVC2):c.1485C>T (p.Cys495=)
|
rs911180448
|
0.00001
|
NM_147127.5(EVC2):c.1542C>T (p.Leu514=)
|
rs376252506
|
0.00001
|
NM_147127.5(EVC2):c.1545T>A (p.Ala515=)
|
rs1716570565
|
0.00001
|
NM_147127.5(EVC2):c.1584G>A (p.Gln528=)
|
rs1273439269
|
0.00001
|
NM_147127.5(EVC2):c.1620C>T (p.Ile540=)
|
rs768068789
|
0.00001
|
NM_147127.5(EVC2):c.1650C>T (p.Phe550=)
|
rs765432520
|
0.00001
|
NM_147127.5(EVC2):c.1710+10C>T
|
rs779023251
|
0.00001
|
NM_147127.5(EVC2):c.171G>T (p.Gly57=)
|
rs1722350740
|
0.00001
|
NM_147127.5(EVC2):c.174C>G (p.Pro58=)
|
rs1317163956
|
0.00001
|
NM_147127.5(EVC2):c.180G>C (p.Leu60=)
|
rs746557117
|
0.00001
|
NM_147127.5(EVC2):c.1827G>A (p.Val609=)
|
rs758243772
|
0.00001
|
NM_147127.5(EVC2):c.1881C>T (p.His627=)
|
rs1181526421
|
0.00001
|
NM_147127.5(EVC2):c.1897C>T (p.Leu633=)
|
rs755775994
|
0.00001
|
NM_147127.5(EVC2):c.1899G>C (p.Leu633=)
|
rs750061407
|
0.00001
|
NM_147127.5(EVC2):c.1908C>T (p.Asp636=)
|
rs753259274
|
0.00001
|
NM_147127.5(EVC2):c.1923A>G (p.Leu641=)
|
rs1193715900
|
0.00001
|
NM_147127.5(EVC2):c.1947C>G (p.Val649=)
|
rs748436461
|
0.00001
|
NM_147127.5(EVC2):c.195G>A (p.Gly65=)
|
rs1351285832
|
0.00001
|
NM_147127.5(EVC2):c.1974T>C (p.Asn658=)
|
rs146401544
|
0.00001
|
NM_147127.5(EVC2):c.1998G>A (p.Lys666=)
|
rs201835379
|
0.00001
|
NM_147127.5(EVC2):c.2026A>C (p.Arg676=)
|
rs922218808
|
0.00001
|
NM_147127.5(EVC2):c.2043A>G (p.Gln681=)
|
rs774467445
|
0.00001
|
NM_147127.5(EVC2):c.2088C>G (p.Ala696=)
|
rs1460893645
|
0.00001
|
NM_147127.5(EVC2):c.2109C>T (p.Ala703=)
|
rs1290218024
|
0.00001
|
NM_147127.5(EVC2):c.2169G>A (p.Glu723=)
|
rs1300347009
|
0.00001
|
NM_147127.5(EVC2):c.216G>A (p.Glu72=)
|
rs1478999602
|
0.00001
|
NM_147127.5(EVC2):c.2172G>T (p.Leu724=)
|
rs546009991
|
0.00001
|
NM_147127.5(EVC2):c.2193C>T (p.Ala731=)
|
rs143262952
|
0.00001
|
NM_147127.5(EVC2):c.219C>T (p.Ser73=)
|
rs1423567913
|
0.00001
|
NM_147127.5(EVC2):c.2226G>A (p.Ser742=)
|
rs1225003407
|
0.00001
|
NM_147127.5(EVC2):c.2265G>A (p.Gln755=)
|
rs962222538
|
0.00001
|
NM_147127.5(EVC2):c.2274C>T (p.Ala758=)
|
rs1195932614
|
0.00001
|
NM_147127.5(EVC2):c.228+10G>T
|
rs1478451043
|
0.00001
|
NM_147127.5(EVC2):c.229-7T>G
|
rs763121941
|
0.00001
|
NM_147127.5(EVC2):c.2292C>G (p.Leu764=)
|
rs200598574
|
0.00001
|
NM_147127.5(EVC2):c.2364C>T (p.Ala788=)
|
rs575617564
|
0.00001
|
NM_147127.5(EVC2):c.2376G>A (p.Glu792=)
|
rs752095410
|
0.00001
|
NM_147127.5(EVC2):c.2379G>A (p.Gly793=)
|
rs984357172
|
0.00001
|
NM_147127.5(EVC2):c.2391C>T (p.Asp797=)
|
rs920334676
|
0.00001
|
NM_147127.5(EVC2):c.2607C>G (p.Pro869=)
|
rs752513992
|
0.00001
|
NM_147127.5(EVC2):c.2649G>A (p.Ala883=)
|
rs751714104
|
0.00001
|
NM_147127.5(EVC2):c.2685C>T (p.Ala895=)
|
rs771623926
|
0.00001
|
NM_147127.5(EVC2):c.2832T>C (p.Val944=)
|
rs1380334833
|
0.00001
|
NM_147127.5(EVC2):c.284-10T>C
|
rs1192584069
|
0.00001
|
NM_147127.5(EVC2):c.2925G>A (p.Ala975=)
|
rs760612784
|
0.00001
|
NM_147127.5(EVC2):c.2937C>T (p.Thr979=)
|
rs750126669
|
0.00001
|
NM_147127.5(EVC2):c.2995C>T (p.Leu999=)
|
rs745415485
|
0.00001
|
NM_147127.5(EVC2):c.3007G>A (p.Glu1003Lys)
|
rs555666020
|
0.00001
|
NM_147127.5(EVC2):c.3039C>T (p.Ile1013=)
|
rs751382770
|
0.00001
|
NM_147127.5(EVC2):c.3042G>A (p.Leu1014=)
|
rs775309745
|
0.00001
|
NM_147127.5(EVC2):c.3057+13G>T
|
rs770915834
|
0.00001
|
NM_147127.5(EVC2):c.3060G>A (p.Glu1020=)
|
rs1284265777
|
0.00001
|
NM_147127.5(EVC2):c.3129C>T (p.Ala1043=)
|
rs987312090
|
0.00001
|
NM_147127.5(EVC2):c.3159T>C (p.Asp1053=)
|
rs777020546
|
0.00001
|
NM_147127.5(EVC2):c.3162G>T (p.Gly1054=)
|
rs777724107
|
0.00001
|
NM_147127.5(EVC2):c.3219C>T (p.Val1073=)
|
rs776929675
|
0.00001
|
NM_147127.5(EVC2):c.3264T>C (p.His1088=)
|
rs756868538
|
0.00001
|
NM_147127.5(EVC2):c.3270G>A (p.Gln1090=)
|
rs754317285
|
0.00001
|
NM_147127.5(EVC2):c.3273-7A>T
|
rs1382818953
|
0.00001
|
NM_147127.5(EVC2):c.3273-8C>T
|
rs756556239
|
0.00001
|
NM_147127.5(EVC2):c.327C>G (p.Val109=)
|
rs1721335332
|
0.00001
|
NM_147127.5(EVC2):c.3336C>T (p.Asp1112=)
|
rs746688755
|
0.00001
|
NM_147127.5(EVC2):c.3348C>T (p.Thr1116=)
|
rs1451776773
|
0.00001
|
NM_147127.5(EVC2):c.3361-4G>T
|
rs1378260553
|
0.00001
|
NM_147127.5(EVC2):c.3361-5T>C
|
rs374025466
|
0.00001
|
NM_147127.5(EVC2):c.3361-7C>G
|
rs772860972
|
0.00001
|
NM_147127.5(EVC2):c.3364C>T (p.Leu1122=)
|
rs1461295651
|
0.00001
|
NM_147127.5(EVC2):c.3372G>A (p.Leu1124=)
|
rs778492108
|
0.00001
|
NM_147127.5(EVC2):c.3378G>A (p.Ser1126=)
|
rs757807439
|
0.00001
|
NM_147127.5(EVC2):c.33G>A (p.Thr11=)
|
rs1202476781
|
0.00001
|
NM_147127.5(EVC2):c.3414G>A (p.Thr1138=)
|
rs768312867
|
0.00001
|
NM_147127.5(EVC2):c.3426C>T (p.Leu1142=)
|
rs1321179195
|
0.00001
|
NM_147127.5(EVC2):c.3447A>C (p.Thr1149=)
|
rs1291370512
|
0.00001
|
NM_147127.5(EVC2):c.3531G>A (p.Ala1177=)
|
rs770872108
|
0.00001
|
NM_147127.5(EVC2):c.3540C>T (p.Ala1180=)
|
rs373829825
|
0.00001
|
NM_147127.5(EVC2):c.3543C>T (p.Asp1181=)
|
rs762696562
|
0.00001
|
NM_147127.5(EVC2):c.3557+7G>C
|
rs748684933
|
0.00001
|
NM_147127.5(EVC2):c.3557+9C>T
|
rs928653922
|
0.00001
|
NM_147127.5(EVC2):c.3609G>C (p.Leu1203=)
|
rs754595798
|
0.00001
|
NM_147127.5(EVC2):c.3627A>G (p.Glu1209=)
|
rs374425966
|
0.00001
|
NM_147127.5(EVC2):c.3651A>G (p.Arg1217=)
|
rs962774281
|
0.00001
|
NM_147127.5(EVC2):c.3654G>A (p.Lys1218=)
|
rs770129558
|
0.00001
|
NM_147127.5(EVC2):c.3726A>C (p.Pro1242=)
|
rs767740349
|
0.00001
|
NM_147127.5(EVC2):c.372T>C (p.Ala124=)
|
rs753895375
|
0.00001
|
NM_147127.5(EVC2):c.3750C>T (p.Gly1250=)
|
rs775355661
|
0.00001
|
NM_147127.5(EVC2):c.3759C>T (p.Ala1253=)
|
rs1032044767
|
0.00001
|
NM_147127.5(EVC2):c.3771T>C (p.Ile1257=)
|
rs777144379
|
0.00001
|
NM_147127.5(EVC2):c.3849C>T (p.Ile1283=)
|
rs371771308
|
0.00001
|
NM_147127.5(EVC2):c.3867C>T (p.Pro1289=)
|
rs953355815
|
0.00001
|
NM_147127.5(EVC2):c.3924C>T (p.Asp1308=)
|
rs1277969148
|
0.00001
|
NM_147127.5(EVC2):c.408G>A (p.Lys136=)
|
rs763680760
|
0.00001
|
NM_147127.5(EVC2):c.40C>T (p.Leu14=)
|
rs1722366826
|
0.00001
|
NM_147127.5(EVC2):c.411G>A (p.Lys137=)
|
rs762375976
|
0.00001
|
NM_147127.5(EVC2):c.429G>A (p.Glu143=)
|
rs754435299
|
0.00001
|
NM_147127.5(EVC2):c.451-7del
|
rs1290670058
|
0.00001
|
NM_147127.5(EVC2):c.45C>T (p.Ala15=)
|
rs1285560156
|
0.00001
|
NM_147127.5(EVC2):c.498A>G (p.Val166=)
|
rs369509893
|
0.00001
|
NM_147127.5(EVC2):c.520-7G>T
|
rs1177228956
|
0.00001
|
NM_147127.5(EVC2):c.534T>C (p.Ser178=)
|
rs1720948331
|
0.00001
|
NM_147127.5(EVC2):c.591A>G (p.Ser197=)
|
rs1720942772
|
0.00001
|
NM_147127.5(EVC2):c.612C>T (p.Leu204=)
|
rs1317049169
|
0.00001
|
NM_147127.5(EVC2):c.630T>A (p.Ala210=)
|
rs1386228779
|
0.00001
|
NM_147127.5(EVC2):c.636C>T (p.Leu212=)
|
rs768639624
|
0.00001
|
NM_147127.5(EVC2):c.639C>T (p.Thr213=)
|
rs1323570343
|
0.00001
|
NM_147127.5(EVC2):c.681G>A (p.Gln227=)
|
rs997848448
|
0.00001
|
NM_147127.5(EVC2):c.706+13C>T
|
rs371526145
|
0.00001
|
NM_147127.5(EVC2):c.707-5C>T
|
rs781300676
|
0.00001
|
NM_147127.5(EVC2):c.707-8C>G
|
rs746187089
|
0.00001
|
NM_147127.5(EVC2):c.741G>A (p.Thr247=)
|
rs772821703
|
0.00001
|
NM_147127.5(EVC2):c.759C>T (p.Leu253=)
|
rs746241303
|
0.00001
|
NM_147127.5(EVC2):c.78G>A (p.Gly26=)
|
rs1472845952
|
0.00001
|
NM_147127.5(EVC2):c.798C>G (p.Thr266=)
|
rs1217997624
|
0.00001
|
NM_147127.5(EVC2):c.855A>G (p.Ala285=)
|
rs1277622681
|
0.00001
|
NM_147127.5(EVC2):c.870+9C>T
|
rs749270873
|
0.00001
|
NM_147127.5(EVC2):c.871-5C>T
|
rs745871266
|
0.00001
|
NM_147127.5(EVC2):c.900A>G (p.Ala300=)
|
rs1049760300
|
0.00001
|
NM_147127.5(EVC2):c.918C>T (p.Phe306=)
|
rs1382381005
|
0.00001
|
NM_147127.5(EVC2):c.921C>T (p.Leu307=)
|
rs1243167455
|
0.00001
|
NM_147127.5(EVC2):c.9C>T (p.Pro3=)
|
rs573858756
|
0.00001
|
NM_153717.3(EVC):c.100C>T (p.Leu34=)
|
rs1577297567
|
0.00001
|
NM_153717.3(EVC):c.1089G>T (p.Leu363=)
|
rs773566770
|
0.00001
|
NM_153717.3(EVC):c.1098+9G>A
|
rs1729682283
|
0.00001
|
NM_153717.3(EVC):c.1101C>T (p.Asp367=)
|
rs186537549
|
0.00001
|
NM_153717.3(EVC):c.1125G>A (p.Arg375=)
|
rs372787652
|
0.00001
|
NM_153717.3(EVC):c.1149G>A (p.Glu383=)
|
rs1577439692
|
0.00001
|
NM_153717.3(EVC):c.117C>T (p.Gly39=)
|
rs1424931005
|
0.00001
|
NM_153717.3(EVC):c.1188G>A (p.Arg396=)
|
rs367659093
|
0.00001
|
NM_153717.3(EVC):c.1236G>A (p.Lys412=)
|
rs1730618149
|
0.00001
|
NM_153717.3(EVC):c.1315+7C>T
|
rs1252318929
|
0.00001
|
NM_153717.3(EVC):c.1315+8G>A
|
rs550411377
|
0.00001
|
NM_153717.3(EVC):c.1323C>T (p.Val441=)
|
rs201393812
|
0.00001
|
NM_153717.3(EVC):c.1461C>T (p.Leu487=)
|
rs1414243707
|
0.00001
|
NM_153717.3(EVC):c.1479C>G (p.Val493=)
|
rs751325286
|
0.00001
|
NM_153717.3(EVC):c.1560C>T (p.Cys520=)
|
rs764798059
|
0.00001
|
NM_153717.3(EVC):c.1563+8G>C
|
rs896046510
|
0.00001
|
NM_153717.3(EVC):c.1564-7G>A
|
rs201739032
|
0.00001
|
NM_153717.3(EVC):c.1602C>T (p.Phe534=)
|
rs766294209
|
0.00001
|
NM_153717.3(EVC):c.1647C>T (p.Leu549=)
|
rs756674302
|
0.00001
|
NM_153717.3(EVC):c.1650C>T (p.Pro550=)
|
rs1187336928
|
0.00001
|
NM_153717.3(EVC):c.1698C>T (p.Ala566=)
|
rs911132556
|
0.00001
|
NM_153717.3(EVC):c.1764G>A (p.Glu588=)
|
rs1736003433
|
0.00001
|
NM_153717.3(EVC):c.1777-8G>A
|
rs760016211
|
0.00001
|
NM_153717.3(EVC):c.1794T>C (p.Cys598=)
|
rs1162334289
|
0.00001
|
NM_153717.3(EVC):c.1806C>T (p.Ser602=)
|
rs749141466
|
0.00001
|
NM_153717.3(EVC):c.1836C>T (p.His612=)
|
rs1318231575
|
0.00001
|
NM_153717.3(EVC):c.1839G>A (p.Glu613=)
|
rs1419257094
|
0.00001
|
NM_153717.3(EVC):c.1845C>A (p.Thr615=)
|
rs1398493743
|
0.00001
|
NM_153717.3(EVC):c.1878C>T (p.Leu626=)
|
rs375743004
|
0.00001
|
NM_153717.3(EVC):c.1886+10G>A
|
rs1194224970
|
0.00001
|
NM_153717.3(EVC):c.1911G>T (p.Gly637=)
|
rs746048526
|
0.00001
|
NM_153717.3(EVC):c.1924T>C (p.Leu642=)
|
rs1458268098
|
0.00001
|
NM_153717.3(EVC):c.1989G>C (p.Arg663=)
|
rs1289387183
|
0.00001
|
NM_153717.3(EVC):c.2007C>T (p.His669=)
|
rs1309166734
|
0.00001
|
NM_153717.3(EVC):c.2040G>A (p.Leu680=)
|
rs1490178041
|
0.00001
|
NM_153717.3(EVC):c.2058G>A (p.Gln686=)
|
rs747533747
|
0.00001
|
NM_153717.3(EVC):c.2070G>A (p.Glu690=)
|
rs1288478366
|
0.00001
|
NM_153717.3(EVC):c.2088C>T (p.Leu696=)
|
rs761661473
|
0.00001
|
NM_153717.3(EVC):c.2098-5C>T
|
rs747808287
|
0.00001
|
NM_153717.3(EVC):c.2103G>A (p.Ala701=)
|
rs766383397
|
0.00001
|
NM_153717.3(EVC):c.216T>C (p.Asn72=)
|
rs776973612
|
0.00001
|
NM_153717.3(EVC):c.2181C>T (p.Ala727=)
|
rs759398050
|
0.00001
|
NM_153717.3(EVC):c.2184G>A (p.Glu728=)
|
rs1387569961
|
0.00001
|
NM_153717.3(EVC):c.2226C>T (p.Cys742=)
|
rs1174341100
|
0.00001
|
NM_153717.3(EVC):c.2250G>A (p.Val750=)
|
rs1577624232
|
0.00001
|
NM_153717.3(EVC):c.2304+7A>G
|
rs1714452682
|
0.00001
|
NM_153717.3(EVC):c.2313G>A (p.Leu771=)
|
rs756905795
|
0.00001
|
NM_153717.3(EVC):c.234A>G (p.Glu78=)
|
rs754706204
|
0.00001
|
NM_153717.3(EVC):c.2358C>G (p.Val786=)
|
rs895641001
|
0.00001
|
NM_153717.3(EVC):c.2365C>T (p.Leu789=)
|
rs1448746006
|
0.00001
|
NM_153717.3(EVC):c.2376G>A (p.Ala792=)
|
rs1005244629
|
0.00001
|
NM_153717.3(EVC):c.2406G>A (p.Glu802=)
|
rs747188003
|
0.00001
|
NM_153717.3(EVC):c.2430G>A (p.Gln810=)
|
rs370999882
|
0.00001
|
NM_153717.3(EVC):c.2450-7G>T
|
rs769527486
|
0.00001
|
NM_153717.3(EVC):c.2520G>A (p.Thr840=)
|
rs187406722
|
0.00001
|
NM_153717.3(EVC):c.2562-5C>G
|
rs747812027
|
0.00001
|
NM_153717.3(EVC):c.2624A>T (p.His875Leu)
|
rs200403160
|
0.00001
|
NM_153717.3(EVC):c.2625C>T (p.His875=)
|
rs764729655
|
0.00001
|
NM_153717.3(EVC):c.2782+13dup
|
rs770549797
|
0.00001
|
NM_153717.3(EVC):c.2782+9C>T
|
rs768005359
|
0.00001
|
NM_153717.3(EVC):c.2783-18T>G
|
rs544186339
|
0.00001
|
NM_153717.3(EVC):c.2783-8C>T
|
rs905232607
|
0.00001
|
NM_153717.3(EVC):c.2790C>T (p.Pro930=)
|
rs747237758
|
0.00001
|
NM_153717.3(EVC):c.2949G>A (p.Lys983=)
|
rs760920720
|
0.00001
|
NM_153717.3(EVC):c.300+10G>C
|
rs765963247
|
0.00001
|
NM_153717.3(EVC):c.301-13C>T
|
rs1478477072
|
0.00001
|
NM_153717.3(EVC):c.301-5C>T
|
rs1162511331
|
0.00001
|
NM_153717.3(EVC):c.303A>G (p.Glu101=)
|
rs1001609281
|
0.00001
|
NM_153717.3(EVC):c.30C>T (p.Ser10=)
|
rs1250304907
|
0.00001
|
NM_153717.3(EVC):c.339C>T (p.Phe113=)
|
rs750461424
|
0.00001
|
NM_153717.3(EVC):c.343C>T (p.Leu115=)
|
rs755273705
|
0.00001
|
NM_153717.3(EVC):c.375G>A (p.Gln125=)
|
rs951334006
|
0.00001
|
NM_153717.3(EVC):c.384+9C>T
|
rs1726415422
|
0.00001
|
NM_153717.3(EVC):c.385-10G>A
|
rs766423757
|
0.00001
|
NM_153717.3(EVC):c.385-5C>T
|
rs897738878
|
0.00001
|
NM_153717.3(EVC):c.447A>G (p.Pro149=)
|
rs143250379
|
0.00001
|
NM_153717.3(EVC):c.450C>T (p.His150=)
|
rs760527698
|
0.00001
|
NM_153717.3(EVC):c.456G>A (p.Pro152=)
|
rs776773987
|
0.00001
|
NM_153717.3(EVC):c.510C>T (p.Asp170=)
|
rs757930422
|
0.00001
|
NM_153717.3(EVC):c.525A>G (p.Ser175=)
|
rs369785566
|
0.00001
|
NM_153717.3(EVC):c.57C>T (p.Asp19=)
|
rs1467149000
|
0.00001
|
NM_153717.3(EVC):c.582G>A (p.Arg194=)
|
rs200101865
|
0.00001
|
NM_153717.3(EVC):c.617+10G>T
|
rs1175798148
|
0.00001
|
NM_153717.3(EVC):c.624C>T (p.Asp208=)
|
rs187457187
|
0.00001
|
NM_153717.3(EVC):c.79C>T (p.Leu27=)
|
rs1723000600
|
0.00001
|
NM_153717.3(EVC):c.801+9T>C
|
rs775191328
|
0.00001
|
NM_153717.3(EVC):c.858G>A (p.Ser286=)
|
rs752988350
|
0.00001
|
NM_153717.3(EVC):c.876G>A (p.Glu292=)
|
rs902304992
|
0.00001
|
NM_153717.3(EVC):c.882C>T (p.Ile294=)
|
rs375414448
|
0.00001
|
NM_153717.3(EVC):c.885C>T (p.Thr295=)
|
rs1481146042
|
0.00001
|
NM_153717.3(EVC):c.888G>T (p.Leu296=)
|
rs998975965
|
0.00001
|
NM_153717.3(EVC):c.930A>C (p.Leu310=)
|
rs776792609
|
0.00001
|
NM_153717.3(EVC):c.940-9A>C
|
rs1241925243
|
0.00001
|
NM_153717.3(EVC):c.99G>A (p.Leu33=)
|
rs1723007488
|
0.00001
|
NM_001080463.2(DYNC2H1):c.9837A>G (p.Ser3279=)
|
|
|
NM_001102564.3(IFT43):c.147+18dup
|
rs747593685
|
|
NM_001102564.3(IFT43):c.369-8del
|
rs536027245
|
|
NM_001199397.3(NEK1):c.1017A>G (p.Lys339=)
|
rs563173673
|
|
NM_001199397.3(NEK1):c.1020+20C>T
|
|
|
NM_001199397.3(NEK1):c.1021-15T>G
|
|
|
NM_001199397.3(NEK1):c.1029A>G (p.Gln343=)
|
|
|
NM_001199397.3(NEK1):c.1081-6_1081-3del
|
rs751377061
|
|
NM_001199397.3(NEK1):c.1081-7dup
|
|
|
NM_001199397.3(NEK1):c.1107A>G (p.Glu369=)
|
|
|
NM_001199397.3(NEK1):c.1149T>C (p.Ser383=)
|
|
|
NM_001199397.3(NEK1):c.114A>G (p.Ser38=)
|
rs778749876
|
|
NM_001199397.3(NEK1):c.1179A>G (p.Gln393=)
|
|
|
NM_001199397.3(NEK1):c.1191+13T>C
|
|
|
NM_001199397.3(NEK1):c.1191+20A>C
|
|
|
NM_001199397.3(NEK1):c.1191+8G>A
|
|
|
NM_001199397.3(NEK1):c.1192-13C>G
|
|
|
NM_001199397.3(NEK1):c.1192-6C>T
|
|
|
NM_001199397.3(NEK1):c.1238T>C (p.Leu413Pro)
|
rs755724871
|
|
NM_001199397.3(NEK1):c.1242T>C (p.Ser414=)
|
|
|
NM_001199397.3(NEK1):c.1266+18A>G
|
|
|
NM_001199397.3(NEK1):c.1266+20A>G
|
|
|
NM_001199397.3(NEK1):c.1287A>T (p.Gly429=)
|
|
|
NM_001199397.3(NEK1):c.1334A>G (p.His445Arg)
|
rs574204412
|
|
NM_001199397.3(NEK1):c.1430+10T>C
|
|
|
NM_001199397.3(NEK1):c.1430+13_1430+14insA
|
rs2149909733
|
|
NM_001199397.3(NEK1):c.1450C>G (p.Arg484Gly)
|
rs183378326
|
|
NM_001199397.3(NEK1):c.1482T>C (p.His494=)
|
rs1580735647
|
|
NM_001199397.3(NEK1):c.1767G>A (p.Leu589=)
|
|
|
NM_001199397.3(NEK1):c.1797G>A (p.Glu599=)
|
|
|
NM_001199397.3(NEK1):c.1800C>T (p.Arg600=)
|
|
|
NM_001199397.3(NEK1):c.1821T>C (p.Leu607=)
|
|
|
NM_001199397.3(NEK1):c.1823G>A (p.Arg608His)
|
|
|
NM_001199397.3(NEK1):c.1833+19T>C
|
|
|
NM_001199397.3(NEK1):c.1834-17del
|
|
|
NM_001199397.3(NEK1):c.183A>G (p.Pro61=)
|
|
|
NM_001199397.3(NEK1):c.1899C>T (p.Ile633=)
|
|
|
NM_001199397.3(NEK1):c.1905A>G (p.Ser635=)
|
|
|
NM_001199397.3(NEK1):c.1911+19dup
|
|
|
NM_001199397.3(NEK1):c.1911+20C>A
|
|
|
NM_001199397.3(NEK1):c.1911+20C>T
|
|
|
NM_001199397.3(NEK1):c.1912-5T>C
|
|
|
NM_001199397.3(NEK1):c.1944A>G (p.Lys648=)
|
|
|
NM_001199397.3(NEK1):c.1950A>G (p.Gln650=)
|
|
|
NM_001199397.3(NEK1):c.1995G>A (p.Val665=)
|
|
|
NM_001199397.3(NEK1):c.2008-5T>A
|
|
|
NM_001199397.3(NEK1):c.2110G>A (p.Val704Ile)
|
|
|
NM_001199397.3(NEK1):c.214+16C>T
|
|
|
NM_001199397.3(NEK1):c.2140-14A>G
|
|
|
NM_001199397.3(NEK1):c.215-4G>A
|
|
|
NM_001199397.3(NEK1):c.2161C>T (p.Arg721Trp)
|
rs201726561
|
|
NM_001199397.3(NEK1):c.2163G>A (p.Arg721=)
|
|
|
NM_001199397.3(NEK1):c.2193C>T (p.Asn731=)
|
rs2149550010
|
|
NM_001199397.3(NEK1):c.2206-12C>T
|
|
|
NM_001199397.3(NEK1):c.2206-12_2206-10del
|
|
|
NM_001199397.3(NEK1):c.2358G>A (p.Lys786=)
|
|
|
NM_001199397.3(NEK1):c.2415A>T (p.Thr805=)
|
|
|
NM_001199397.3(NEK1):c.2434+10G>T
|
|
|
NM_001199397.3(NEK1):c.2435-15A>G
|
|
|
NM_001199397.3(NEK1):c.2435-16T>C
|
|
|
NM_001199397.3(NEK1):c.2435-8T>C
|
rs2149501678
|
|
NM_001199397.3(NEK1):c.2436A>G (p.Arg812=)
|
|
|
NM_001199397.3(NEK1):c.2451A>G (p.Glu817=)
|
rs914051271
|
|
NM_001199397.3(NEK1):c.2505G>A (p.Pro835=)
|
|
|
NM_001199397.3(NEK1):c.2532A>G (p.Gly844=)
|
|
|
NM_001199397.3(NEK1):c.2587+16T>C
|
|
|
NM_001199397.3(NEK1):c.2587+18G>T
|
|
|
NM_001199397.3(NEK1):c.2764+11A>G
|
|
|
NM_001199397.3(NEK1):c.2764+12T>C
|
|
|
NM_001199397.3(NEK1):c.2765-15G>A
|
|
|
NM_001199397.3(NEK1):c.2765-16C>T
|
rs746322641
|
|
NM_001199397.3(NEK1):c.2765-17dup
|
rs1737847989
|
|
NM_001199397.3(NEK1):c.2796A>G (p.Gln932=)
|
|
|
NM_001199397.3(NEK1):c.2974+11T>C
|
rs886059229
|
|
NM_001199397.3(NEK1):c.2975-14C>T
|
|
|
NM_001199397.3(NEK1):c.3035A>C (p.Glu1012Ala)
|
|
|
NM_001199397.3(NEK1):c.3081C>A (p.Val1027=)
|
|
|
NM_001199397.3(NEK1):c.3081C>T (p.Val1027=)
|
|
|
NM_001199397.3(NEK1):c.3141G>A (p.Ser1047=)
|
rs190807750
|
|
NM_001199397.3(NEK1):c.3204T>C (p.Phe1068=)
|
|
|
NM_001199397.3(NEK1):c.3222+16A>C
|
|
|
NM_001199397.3(NEK1):c.3222+17A>C
|
|
|
NM_001199397.3(NEK1):c.3234A>G (p.Thr1078=)
|
|
|
NM_001199397.3(NEK1):c.3289G>A (p.Val1097Ile)
|
rs374890006
|
|
NM_001199397.3(NEK1):c.3289G>C (p.Val1097Leu)
|
rs374890006
|
|
NM_001199397.3(NEK1):c.3315T>C (p.Leu1105=)
|
|
|
NM_001199397.3(NEK1):c.3342C>T (p.Asn1114=)
|
|
|
NM_001199397.3(NEK1):c.3375-10T>A
|
|
|
NM_001199397.3(NEK1):c.3438G>A (p.Arg1146=)
|
|
|
NM_001199397.3(NEK1):c.3468A>G (p.Glu1156=)
|
|
|
NM_001199397.3(NEK1):c.3474G>A (p.Glu1158=)
|
rs758717476
|
|
NM_001199397.3(NEK1):c.3579C>T (p.His1193=)
|
|
|
NM_001199397.3(NEK1):c.3584-11T>C
|
|
|
NM_001199397.3(NEK1):c.3584-19_3584-15del
|
|
|
NM_001199397.3(NEK1):c.3584-20A>C
|
|
|
NM_001199397.3(NEK1):c.3715-12A>G
|
|
|
NM_001199397.3(NEK1):c.375T>C (p.Leu125=)
|
|
|
NM_001199397.3(NEK1):c.3843A>G (p.Gln1281=)
|
|
|
NM_001199397.3(NEK1):c.3847+13C>T
|
|
|
NM_001199397.3(NEK1):c.3847+16_3847+17del
|
|
|
NM_001199397.3(NEK1):c.396+20A>G
|
|
|
NM_001199397.3(NEK1):c.397-10T>C
|
|
|
NM_001199397.3(NEK1):c.397-20T>G
|
|
|
NM_001199397.3(NEK1):c.397-5T>C
|
|
|
NM_001199397.3(NEK1):c.464+19T>G
|
rs2150086593
|
|
NM_001199397.3(NEK1):c.464+8G>A
|
|
|
NM_001199397.3(NEK1):c.607-16A>T
|
|
|
NM_001199397.3(NEK1):c.681T>C (p.Tyr227=)
|
|
|
NM_001199397.3(NEK1):c.693C>G (p.Leu231=)
|
|
|
NM_001199397.3(NEK1):c.705G>T (p.Val235=)
|
|
|
NM_001199397.3(NEK1):c.808-20T>G
|
|
|
NM_001199397.3(NEK1):c.843G>A (p.Ser281=)
|
|
|
NM_001199397.3(NEK1):c.869-13T>C
|
|
|
NM_001199397.3(NEK1):c.869-14A>G
|
|
|
NM_001199397.3(NEK1):c.869-7C>T
|
|
|
NM_001199397.3(NEK1):c.891A>G (p.Gln297=)
|
rs2150034399
|
|
NM_001199397.3(NEK1):c.894C>G (p.Asn298Lys)
|
rs745526568
|
|
NM_001199397.3(NEK1):c.936C>T (p.Ala312=)
|
|
|
NM_001199397.3(NEK1):c.990C>T (p.His330=)
|
|
|
NM_001244189.2(KIAA0586):c.9+12G>C
|
rs2140365548
|
|
NM_001244189.2(KIAA0586):c.9+16C>T
|
|
|
NM_001329943.3(KIAA0586):c.*20A>G
|
|
|
NM_001329943.3(KIAA0586):c.-1T>C
|
|
|
NM_001329943.3(KIAA0586):c.-31T>G
|
|
|
NM_001329943.3(KIAA0586):c.-36G>A
|
rs781284563
|
|
NM_001329943.3(KIAA0586):c.-37C>G
|
|
|
NM_001329943.3(KIAA0586):c.-47A>G
|
|
|
NM_001329943.3(KIAA0586):c.1026A>G (p.Ala342=)
|
|
|
NM_001329943.3(KIAA0586):c.1125C>T (p.His375=)
|
|
|
NM_001329943.3(KIAA0586):c.1129+16A>C
|
rs1263079347
|
|
NM_001329943.3(KIAA0586):c.1129+20G>C
|
|
|
NM_001329943.3(KIAA0586):c.1130-12C>T
|
|
|
NM_001329943.3(KIAA0586):c.1130-16A>G
|
|
|
NM_001329943.3(KIAA0586):c.1130-18A>G
|
|
|
NM_001329943.3(KIAA0586):c.1130-20C>G
|
|
|
NM_001329943.3(KIAA0586):c.1130-7A>G
|
rs1656520928
|
|
NM_001329943.3(KIAA0586):c.1149A>G (p.Glu383=)
|
|
|
NM_001329943.3(KIAA0586):c.1200C>T (p.Asn400=)
|
|
|
NM_001329943.3(KIAA0586):c.1203C>T (p.Thr401=)
|
rs2039565444
|
|
NM_001329943.3(KIAA0586):c.1253+12A>T
|
|
|
NM_001329943.3(KIAA0586):c.1253+17G>A
|
|
|
NM_001329943.3(KIAA0586):c.1253+19A>C
|
|
|
NM_001329943.3(KIAA0586):c.1254-12A>G
|
|
|
NM_001329943.3(KIAA0586):c.1284T>C (p.Thr428=)
|
|
|
NM_001329943.3(KIAA0586):c.1320T>C (p.His440=)
|
|
|
NM_001329943.3(KIAA0586):c.1329C>T (p.Gly443=)
|
|
|
NM_001329943.3(KIAA0586):c.1332A>G (p.Gln444=)
|
|
|
NM_001329943.3(KIAA0586):c.135G>C (p.Pro45=)
|
|
|
NM_001329943.3(KIAA0586):c.1362+10G>T
|
|
|
NM_001329943.3(KIAA0586):c.1362+17C>T
|
|
|
NM_001329943.3(KIAA0586):c.1363-11T>C
|
rs2140842996
|
|
NM_001329943.3(KIAA0586):c.1377G>C (p.Leu459=)
|
|
|
NM_001329943.3(KIAA0586):c.138A>G (p.Ala46=)
|
|
|
NM_001329943.3(KIAA0586):c.1395A>G (p.Pro465=)
|
rs2140843741
|
|
NM_001329943.3(KIAA0586):c.139T>C (p.Leu47=)
|
|
|
NM_001329943.3(KIAA0586):c.1450T>C (p.Leu484=)
|
|
|
NM_001329943.3(KIAA0586):c.147A>G (p.Ala49=)
|
|
|
NM_001329943.3(KIAA0586):c.1503T>C (p.Leu501=)
|
|
|
NM_001329943.3(KIAA0586):c.1506A>G (p.Glu502=)
|
|
|
NM_001329943.3(KIAA0586):c.1515G>A (p.Leu505=)
|
|
|
NM_001329943.3(KIAA0586):c.1569T>C (p.Ala523=)
|
|
|
NM_001329943.3(KIAA0586):c.1575T>C (p.Ser525=)
|
|
|
NM_001329943.3(KIAA0586):c.1578C>T (p.Thr526=)
|
|
|
NM_001329943.3(KIAA0586):c.1583+17A>G
|
|
|
NM_001329943.3(KIAA0586):c.1583+7G>A
|
rs1333490071
|
|
NM_001329943.3(KIAA0586):c.1584-14T>C
|
rs2140853060
|
|
NM_001329943.3(KIAA0586):c.1584-18C>A
|
|
|
NM_001329943.3(KIAA0586):c.1584A>G (p.Arg528=)
|
rs776054856
|
|
NM_001329943.3(KIAA0586):c.1593A>G (p.Ser531=)
|
|
|
NM_001329943.3(KIAA0586):c.1638T>C (p.Thr546=)
|
|
|
NM_001329943.3(KIAA0586):c.1656+12A>G
|
|
|
NM_001329943.3(KIAA0586):c.1656+17A>T
|
|
|
NM_001329943.3(KIAA0586):c.1656+19C>A
|
|
|
NM_001329943.3(KIAA0586):c.1657-13T>C
|
|
|
NM_001329943.3(KIAA0586):c.1680T>C (p.Tyr560=)
|
|
|
NM_001329943.3(KIAA0586):c.1716C>A (p.Thr572=)
|
|
|
NM_001329943.3(KIAA0586):c.171G>T (p.Thr57=)
|
|
|
NM_001329943.3(KIAA0586):c.1782T>A (p.Ser594=)
|
|
|
NM_001329943.3(KIAA0586):c.1821G>A (p.Glu607=)
|
|
|
NM_001329943.3(KIAA0586):c.1824T>C (p.His608=)
|
|
|
NM_001329943.3(KIAA0586):c.1836A>C (p.Leu612=)
|
rs567927914
|
|
NM_001329943.3(KIAA0586):c.1836A>G (p.Leu612=)
|
rs567927914
|
|
NM_001329943.3(KIAA0586):c.1875G>A (p.Glu625=)
|
|
|
NM_001329943.3(KIAA0586):c.1881G>A (p.Lys627=)
|
|
|
NM_001329943.3(KIAA0586):c.1884+15T>C
|
rs1313237040
|
|
NM_001329943.3(KIAA0586):c.1885-12T>G
|
|
|
NM_001329943.3(KIAA0586):c.1885-12_1885-11del
|
|
|
NM_001329943.3(KIAA0586):c.1885-15A>T
|
|
|
NM_001329943.3(KIAA0586):c.1885-5C>T
|
rs752142962
|
|
NM_001329943.3(KIAA0586):c.1917T>C (p.Asp639=)
|
rs376649351
|
|
NM_001329943.3(KIAA0586):c.1920A>G (p.Glu640=)
|
rs1477846398
|
|
NM_001329943.3(KIAA0586):c.1974T>C (p.Thr658=)
|
|
|
NM_001329943.3(KIAA0586):c.1989A>G (p.Pro663=)
|
|
|
NM_001329943.3(KIAA0586):c.199+13A>C
|
rs769176872
|
|
NM_001329943.3(KIAA0586):c.199+13A>G
|
|
|
NM_001329943.3(KIAA0586):c.199+15G>A
|
|
|
NM_001329943.3(KIAA0586):c.200-5G>A
|
|
|
NM_001329943.3(KIAA0586):c.2016T>C (p.Pro672=)
|
|
|
NM_001329943.3(KIAA0586):c.2022C>T (p.Ser674=)
|
rs2140887489
|
|
NM_001329943.3(KIAA0586):c.2032A>C (p.Arg678=)
|
rs190081177
|
|
NM_001329943.3(KIAA0586):c.2034A>G (p.Arg678=)
|
|
|
NM_001329943.3(KIAA0586):c.2037A>G (p.Pro679=)
|
|
|
NM_001329943.3(KIAA0586):c.2059+20A>G
|
|
|
NM_001329943.3(KIAA0586):c.2060-16T>C
|
|
|
NM_001329943.3(KIAA0586):c.2060-19C>T
|
|
|
NM_001329943.3(KIAA0586):c.2061C>G (p.Gly687=)
|
|
|
NM_001329943.3(KIAA0586):c.2175T>C (p.Tyr725=)
|
|
|
NM_001329943.3(KIAA0586):c.2254+17T>C
|
rs2140941167
|
|
NM_001329943.3(KIAA0586):c.2254+20G>T
|
|
|
NM_001329943.3(KIAA0586):c.2262C>T (p.Thr754=)
|
|
|
NM_001329943.3(KIAA0586):c.2280C>T (p.Thr760=)
|
|
|
NM_001329943.3(KIAA0586):c.2304C>T (p.Val768=)
|
|
|
NM_001329943.3(KIAA0586):c.2442+11del
|
rs753806115
|
|
NM_001329943.3(KIAA0586):c.2442+15A>C
|
|
|
NM_001329943.3(KIAA0586):c.2442+16T>C
|
|
|
NM_001329943.3(KIAA0586):c.2442+9G>A
|
rs1490718693
|
|
NM_001329943.3(KIAA0586):c.2443-14G>A
|
|
|
NM_001329943.3(KIAA0586):c.2443-18T>C
|
|
|
NM_001329943.3(KIAA0586):c.2443-19A>G
|
|
|
NM_001329943.3(KIAA0586):c.2443-4T>C
|
rs911579183
|
|
NM_001329943.3(KIAA0586):c.2445A>G (p.Val815=)
|
|
|
NM_001329943.3(KIAA0586):c.2451C>T (p.Pro817=)
|
|
|
NM_001329943.3(KIAA0586):c.2469C>T (p.Ser823=)
|
|
|
NM_001329943.3(KIAA0586):c.2481T>C (p.Ser827=)
|
|
|
NM_001329943.3(KIAA0586):c.24G>A (p.Leu8=)
|
rs761492303
|
|
NM_001329943.3(KIAA0586):c.2505G>A (p.Leu835=)
|
rs751246498
|
|
NM_001329943.3(KIAA0586):c.2535T>A (p.Pro845=)
|
|
|
NM_001329943.3(KIAA0586):c.2553+20C>A
|
|
|
NM_001329943.3(KIAA0586):c.2554-4T>G
|
|
|
NM_001329943.3(KIAA0586):c.2554-9C>A
|
|
|
NM_001329943.3(KIAA0586):c.2556T>G (p.Thr852=)
|
|
|
NM_001329943.3(KIAA0586):c.2598A>G (p.Pro866=)
|
|
|
NM_001329943.3(KIAA0586):c.261G>T (p.Val87=)
|
|
|
NM_001329943.3(KIAA0586):c.2634+12T>C
|
rs766964981
|
|
NM_001329943.3(KIAA0586):c.264A>G (p.Ser88=)
|
rs2037178345
|
|
NM_001329943.3(KIAA0586):c.2787T>C (p.Ile929=)
|
|
|
NM_001329943.3(KIAA0586):c.2796A>G (p.Lys932=)
|
|
|
NM_001329943.3(KIAA0586):c.2825+15T>G
|
|
|
NM_001329943.3(KIAA0586):c.2826-10A>G
|
|
|
NM_001329943.3(KIAA0586):c.2826-11C>T
|
|
|
NM_001329943.3(KIAA0586):c.2826-12C>T
|
|
|
NM_001329943.3(KIAA0586):c.2847A>C (p.Ser949=)
|
|
|
NM_001329943.3(KIAA0586):c.2877G>A (p.Gln959=)
|
|
|
NM_001329943.3(KIAA0586):c.2883G>A (p.Gln961=)
|
rs1187492772
|
|
NM_001329943.3(KIAA0586):c.2907A>G (p.Ser969=)
|
|
|
NM_001329943.3(KIAA0586):c.2928A>G (p.Pro976=)
|
|
|
NM_001329943.3(KIAA0586):c.2944+13G>A
|
|
|
NM_001329943.3(KIAA0586):c.2944+16T>A
|
|
|
NM_001329943.3(KIAA0586):c.2944+17T>G
|
|
|
NM_001329943.3(KIAA0586):c.2944+19T>A
|
|
|
NM_001329943.3(KIAA0586):c.2945-4T>C
|
|
|
NM_001329943.3(KIAA0586):c.2961T>C (p.Ser987=)
|
|
|
NM_001329943.3(KIAA0586):c.2976T>A (p.Leu992=)
|
|
|
NM_001329943.3(KIAA0586):c.2976T>G (p.Leu992=)
|
|
|
NM_001329943.3(KIAA0586):c.2991T>C (p.Gly997=)
|
|
|
NM_001329943.3(KIAA0586):c.2997T>G (p.Pro999=)
|
rs1284387922
|
|
NM_001329943.3(KIAA0586):c.3018A>G (p.Lys1006=)
|
|
|
NM_001329943.3(KIAA0586):c.306T>G (p.Pro102=)
|
|
|
NM_001329943.3(KIAA0586):c.3123A>C (p.Ser1041=)
|
|
|
NM_001329943.3(KIAA0586):c.3129T>C (p.Asn1043=)
|
|
|
NM_001329943.3(KIAA0586):c.3144+20C>G
|
|
|
NM_001329943.3(KIAA0586):c.3144+20C>T
|
|
|
NM_001329943.3(KIAA0586):c.3144+7G>A
|
|
|
NM_001329943.3(KIAA0586):c.3145-12T>C
|
|
|
NM_001329943.3(KIAA0586):c.3145-16G>A
|
|
|
NM_001329943.3(KIAA0586):c.3145-8T>C
|
|
|
NM_001329943.3(KIAA0586):c.3216G>A (p.Glu1072=)
|
rs528416301
|
|
NM_001329943.3(KIAA0586):c.3304+14_3304+19del
|
|
|
NM_001329943.3(KIAA0586):c.3304+9_3304+10insAG
|
rs2141183723
|
|
NM_001329943.3(KIAA0586):c.3305-17T>A
|
|
|
NM_001329943.3(KIAA0586):c.3305-17_3305-16insG
|
|
|
NM_001329943.3(KIAA0586):c.3305-18_3305-17insA
|
|
|
NM_001329943.3(KIAA0586):c.3339T>C (p.Thr1113=)
|
|
|
NM_001329943.3(KIAA0586):c.3351C>A (p.Thr1117=)
|
|
|
NM_001329943.3(KIAA0586):c.3366T>G (p.Pro1122=)
|
|
|
NM_001329943.3(KIAA0586):c.336A>G (p.Gln112=)
|
|
|
NM_001329943.3(KIAA0586):c.3372A>G (p.Pro1124=)
|
|
|
NM_001329943.3(KIAA0586):c.3378G>A (p.Ala1126=)
|
|
|
NM_001329943.3(KIAA0586):c.3381A>C (p.Ala1127=)
|
|
|
NM_001329943.3(KIAA0586):c.3390C>T (p.Thr1130=)
|
rs2141193804
|
|
NM_001329943.3(KIAA0586):c.33A>G (p.Lys11=)
|
rs2140373069
|
|
NM_001329943.3(KIAA0586):c.340+13T>G
|
|
|
NM_001329943.3(KIAA0586):c.340+14A>G
|
|
|
NM_001329943.3(KIAA0586):c.341-17G>C
|
|
|
NM_001329943.3(KIAA0586):c.3438A>G (p.Pro1146=)
|
|
|
NM_001329943.3(KIAA0586):c.3474A>C (p.Pro1158=)
|
rs759687892
|
|
NM_001329943.3(KIAA0586):c.3527+17T>C
|
|
|
NM_001329943.3(KIAA0586):c.3528-15T>G
|
rs752835695
|
|
NM_001329943.3(KIAA0586):c.3528-16G>A
|
|
|
NM_001329943.3(KIAA0586):c.3561G>A (p.Glu1187=)
|
|
|
NM_001329943.3(KIAA0586):c.3564T>C (p.Ser1188=)
|
|
|
NM_001329943.3(KIAA0586):c.3624C>T (p.Ala1208=)
|
rs367676896
|
|
NM_001329943.3(KIAA0586):c.3639T>G (p.Pro1213=)
|
rs2141202944
|
|
NM_001329943.3(KIAA0586):c.363G>A (p.Gln121=)
|
rs368352741
|
|
NM_001329943.3(KIAA0586):c.3645C>T (p.Pro1215=)
|
|
|
NM_001329943.3(KIAA0586):c.3651G>A (p.Gln1217=)
|
rs1489789614
|
|
NM_001329943.3(KIAA0586):c.3669A>G (p.Ser1223=)
|
|
|
NM_001329943.3(KIAA0586):c.36A>G (p.Lys12=)
|
rs372215354
|
|
NM_001329943.3(KIAA0586):c.3777C>T (p.Pro1259=)
|
|
|
NM_001329943.3(KIAA0586):c.3781+18A>G
|
|
|
NM_001329943.3(KIAA0586):c.3782-18T>A
|
|
|
NM_001329943.3(KIAA0586):c.3786A>G (p.Leu1262=)
|
|
|
NM_001329943.3(KIAA0586):c.3813C>T (p.Asn1271=)
|
|
|
NM_001329943.3(KIAA0586):c.381A>G (p.Lys127=)
|
|
|
NM_001329943.3(KIAA0586):c.3858+16C>T
|
|
|
NM_001329943.3(KIAA0586):c.3858+7A>G
|
rs771949597
|
|
NM_001329943.3(KIAA0586):c.3858+9C>T
|
|
|
NM_001329943.3(KIAA0586):c.3859-13A>G
|
|
|
NM_001329943.3(KIAA0586):c.3859-16T>A
|
|
|
NM_001329943.3(KIAA0586):c.3906A>G (p.Lys1302=)
|
|
|
NM_001329943.3(KIAA0586):c.3918A>G (p.Ala1306=)
|
|
|
NM_001329943.3(KIAA0586):c.3966C>T (p.Ser1322=)
|
rs757393939
|
|
NM_001329943.3(KIAA0586):c.3990+19G>A
|
|
|
NM_001329943.3(KIAA0586):c.4002C>T (p.Asn1334=)
|
|
|
NM_001329943.3(KIAA0586):c.411-12T>G
|
|
|
NM_001329943.3(KIAA0586):c.411-1347C>T
|
|
|
NM_001329943.3(KIAA0586):c.411-1348dup
|
|
|
NM_001329943.3(KIAA0586):c.411-1349C>T
|
|
|
NM_001329943.3(KIAA0586):c.411-1355C>T
|
|
|
NM_001329943.3(KIAA0586):c.411-1380G>A
|
|
|
NM_001329943.3(KIAA0586):c.411-1491G>T
|
rs2140520688
|
|
NM_001329943.3(KIAA0586):c.411-15dup
|
|
|
NM_001329943.3(KIAA0586):c.411-4A>G
|
|
|
NM_001329943.3(KIAA0586):c.4114T>C (p.Leu1372=)
|
|
|
NM_001329943.3(KIAA0586):c.4122A>G (p.Gln1374=)
|
|
|
NM_001329943.3(KIAA0586):c.4168+13A>G
|
rs375052904
|
|
NM_001329943.3(KIAA0586):c.4168+8C>A
|
rs1331278032
|
|
NM_001329943.3(KIAA0586):c.4206A>C (p.Pro1402=)
|
rs369935221
|
|
NM_001329943.3(KIAA0586):c.4275A>G (p.Ala1425=)
|
|
|
NM_001329943.3(KIAA0586):c.4305C>G (p.Ala1435=)
|
rs144692893
|
|
NM_001329943.3(KIAA0586):c.4305C>T (p.Ala1435=)
|
rs144692893
|
|
NM_001329943.3(KIAA0586):c.4323+12A>G
|
|
|
NM_001329943.3(KIAA0586):c.4324-11A>T
|
|
|
NM_001329943.3(KIAA0586):c.4324-16A>G
|
rs376320678
|
|
NM_001329943.3(KIAA0586):c.4324-6A>G
|
|
|
NM_001329943.3(KIAA0586):c.4329A>G (p.Gln1443=)
|
rs2141479527
|
|
NM_001329943.3(KIAA0586):c.4332A>G (p.Leu1444=)
|
rs2141479570
|
|
NM_001329943.3(KIAA0586):c.4371A>G (p.Pro1457=)
|
|
|
NM_001329943.3(KIAA0586):c.4386A>G (p.Leu1462=)
|
|
|
NM_001329943.3(KIAA0586):c.4392T>A (p.Val1464=)
|
|
|
NM_001329943.3(KIAA0586):c.4398T>C (p.Asn1466=)
|
|
|
NM_001329943.3(KIAA0586):c.4429+11T>A
|
|
|
NM_001329943.3(KIAA0586):c.4429+16A>G
|
|
|
NM_001329943.3(KIAA0586):c.4429+17T>C
|
|
|
NM_001329943.3(KIAA0586):c.4430-15T>A
|
rs1212572767
|
|
NM_001329943.3(KIAA0586):c.4430-15T>C
|
|
|
NM_001329943.3(KIAA0586):c.4437A>G (p.Pro1479=)
|
rs780867053
|
|
NM_001329943.3(KIAA0586):c.447A>G (p.Val149=)
|
|
|
NM_001329943.3(KIAA0586):c.4482A>G (p.Thr1494=)
|
|
|
NM_001329943.3(KIAA0586):c.4495+12A>G
|
rs2140098467
|
|
NM_001329943.3(KIAA0586):c.4495+3726_4495+3732del
|
|
|
NM_001329943.3(KIAA0586):c.4495+3729T>C
|
|
|
NM_001329943.3(KIAA0586):c.4495+3730T>G
|
|
|
NM_001329943.3(KIAA0586):c.4495+3732T>A
|
|
|
NM_001329943.3(KIAA0586):c.4495+3737T>G
|
|
|
NM_001329943.3(KIAA0586):c.4495+3796G>T
|
|
|
NM_001329943.3(KIAA0586):c.4495+7T>C
|
|
|
NM_001329943.3(KIAA0586):c.4496-17G>A
|
|
|
NM_001329943.3(KIAA0586):c.4496-3794A>G
|
|
|
NM_001329943.3(KIAA0586):c.4496-3799A>G
|
|
|
NM_001329943.3(KIAA0586):c.4496-3803T>G
|
|
|
NM_001329943.3(KIAA0586):c.4496-3816C>T
|
|
|
NM_001329943.3(KIAA0586):c.4502A>G (p.Lys1501Arg)
|
|
|
NM_001329943.3(KIAA0586):c.4505C>T (p.Ala1502Val)
|
rs2140156164
|
|
NM_001329943.3(KIAA0586):c.4517C>T (p.Ser1506Phe)
|
|
|
NM_001329943.3(KIAA0586):c.4562C>T (p.Ser1521Leu)
|
|
|
NM_001329943.3(KIAA0586):c.456A>G (p.Leu152=)
|
|
|
NM_001329943.3(KIAA0586):c.4595G>A (p.Ser1532Asn)
|
rs2047081237
|
|
NM_001329943.3(KIAA0586):c.4616A>G (p.Asp1539Gly)
|
|
|
NM_001329943.3(KIAA0586):c.468C>G (p.Gly156=)
|
|
|
NM_001329943.3(KIAA0586):c.492G>A (p.Gln164=)
|
|
|
NM_001329943.3(KIAA0586):c.576G>T (p.Pro192=)
|
|
|
NM_001329943.3(KIAA0586):c.585+17_585+29del
|
|
|
NM_001329943.3(KIAA0586):c.586-16G>T
|
|
|
NM_001329943.3(KIAA0586):c.586-17T>C
|
|
|
NM_001329943.3(KIAA0586):c.586-4T>G
|
|
|
NM_001329943.3(KIAA0586):c.636T>C (p.Ser212=)
|
|
|
NM_001329943.3(KIAA0586):c.642A>G (p.Leu214=)
|
|
|
NM_001329943.3(KIAA0586):c.729C>T (p.His243=)
|
rs774888789
|
|
NM_001329943.3(KIAA0586):c.750T>A (p.Phe250Leu)
|
rs577258273
|
|
NM_001329943.3(KIAA0586):c.786A>G (p.Gln262=)
|
rs1487078229
|
|
NM_001329943.3(KIAA0586):c.807+10A>C
|
rs368833496
|
|
NM_001329943.3(KIAA0586):c.807+12A>G
|
|
|
NM_001329943.3(KIAA0586):c.807+19G>C
|
|
|
NM_001329943.3(KIAA0586):c.807+8del
|
rs2140568510
|
|
NM_001329943.3(KIAA0586):c.807+9A>G
|
rs2140568561
|
|
NM_001329943.3(KIAA0586):c.808-13T>G
|
rs1364907790
|
|
NM_001329943.3(KIAA0586):c.808-20A>C
|
|
|
NM_001329943.3(KIAA0586):c.831C>G (p.Leu277=)
|
|
|
NM_001329943.3(KIAA0586):c.852T>C (p.Pro284=)
|
rs2140662420
|
|
NM_001329943.3(KIAA0586):c.891C>A (p.Ser297=)
|
|
|
NM_001329943.3(KIAA0586):c.930A>G (p.Pro310=)
|
|
|
NM_001329943.3(KIAA0586):c.942C>T (p.Asn314=)
|
|
|
NM_001329943.3(KIAA0586):c.961+11G>T
|
|
|
NM_001329943.3(KIAA0586):c.962-14A>C
|
rs200528557
|
|
NM_001329943.3(KIAA0586):c.962-19A>T
|
|
|
NM_001329943.3(KIAA0586):c.975A>G (p.Glu325=)
|
|
|
NM_001375405.1(CEP120):c.1018A>C (p.Arg340=)
|
|
|
NM_001375405.1(CEP120):c.1038+13C>T
|
|
|
NM_001375405.1(CEP120):c.1038+18T>A
|
|
|
NM_001375405.1(CEP120):c.1122A>C (p.Thr374=)
|
|
|
NM_001375405.1(CEP120):c.1122A>G (p.Thr374=)
|
rs372737011
|
|
NM_001375405.1(CEP120):c.1125T>C (p.Leu375=)
|
|
|
NM_001375405.1(CEP120):c.1161A>G (p.Pro387=)
|
|
|
NM_001375405.1(CEP120):c.1167C>T (p.His389=)
|
rs2127068247
|
|
NM_001375405.1(CEP120):c.1305T>C (p.Asn435=)
|
|
|
NM_001375405.1(CEP120):c.1323A>T (p.Ser441=)
|
|
|
NM_001375405.1(CEP120):c.1344A>G (p.Pro448=)
|
|
|
NM_001375405.1(CEP120):c.1413A>C (p.Pro471=)
|
|
|
NM_001375405.1(CEP120):c.1430+7T>C
|
|
|
NM_001375405.1(CEP120):c.1431-11T>A
|
|
|
NM_001375405.1(CEP120):c.1431-15_1431-9del
|
|
|
NM_001375405.1(CEP120):c.1431-21_1431-10del
|
|
|
NM_001375405.1(CEP120):c.1431-4C>T
|
|
|
NM_001375405.1(CEP120):c.1431-9_1431-6del
|
rs1403821471
|
|
NM_001375405.1(CEP120):c.1431-9_1431-7del
|
|
|
NM_001375405.1(CEP120):c.1431-9_1431-8insT
|
|
|
NM_001375405.1(CEP120):c.1449T>C (p.Phe483=)
|
|
|
NM_001375405.1(CEP120):c.1527C>T (p.Tyr509=)
|
|
|
NM_001375405.1(CEP120):c.1580+11_1580+12dup
|
|
|
NM_001375405.1(CEP120):c.1581-6C>T
|
|
|
NM_001375405.1(CEP120):c.1584T>C (p.Ile528=)
|
rs1223191516
|
|
NM_001375405.1(CEP120):c.1588T>C (p.Leu530=)
|
|
|
NM_001375405.1(CEP120):c.162T>C (p.Thr54=)
|
|
|
NM_001375405.1(CEP120):c.1683A>G (p.Lys561=)
|
|
|
NM_001375405.1(CEP120):c.171T>C (p.Ala57=)
|
|
|
NM_001375405.1(CEP120):c.1722T>C (p.Arg574=)
|
|
|
NM_001375405.1(CEP120):c.1763+13A>C
|
rs2127055694
|
|
NM_001375405.1(CEP120):c.1763+15A>C
|
|
|
NM_001375405.1(CEP120):c.1764-9T>C
|
|
|
NM_001375405.1(CEP120):c.1767A>C (p.Ser589=)
|
|
|
NM_001375405.1(CEP120):c.1804C>T (p.Leu602=)
|
|
|
NM_001375405.1(CEP120):c.1821A>G (p.Leu607=)
|
|
|
NM_001375405.1(CEP120):c.1860+13G>A
|
|
|
NM_001375405.1(CEP120):c.1861-12T>C
|
|
|
NM_001375405.1(CEP120):c.1861-17T>A
|
rs2127049914
|
|
NM_001375405.1(CEP120):c.1861-17T>C
|
rs2127049914
|
|
NM_001375405.1(CEP120):c.1887G>A (p.Pro629=)
|
|
|
NM_001375405.1(CEP120):c.1923C>T (p.Ile641=)
|
|
|
NM_001375405.1(CEP120):c.192G>T (p.Ala64=)
|
|
|
NM_001375405.1(CEP120):c.1959A>G (p.Ala653=)
|
|
|
NM_001375405.1(CEP120):c.2014-13C>G
|
rs1228982030
|
|
NM_001375405.1(CEP120):c.2022G>A (p.Gln674=)
|
|
|
NM_001375405.1(CEP120):c.207-12G>C
|
|
|
NM_001375405.1(CEP120):c.207-14_207-13del
|
|
|
NM_001375405.1(CEP120):c.207-19A>C
|
|
|
NM_001375405.1(CEP120):c.2088A>C (p.Ser696=)
|
|
|
NM_001375405.1(CEP120):c.2088A>T (p.Ser696=)
|
rs761862745
|
|
NM_001375405.1(CEP120):c.2103+13G>A
|
|
|
NM_001375405.1(CEP120):c.2103+20T>G
|
|
|
NM_001375405.1(CEP120):c.2103+20_2103+23del
|
rs2127047195
|
|
NM_001375405.1(CEP120):c.2104-12A>G
|
rs1235912647
|
|
NM_001375405.1(CEP120):c.2104-15T>G
|
|
|
NM_001375405.1(CEP120):c.2104-15_2104-14insG
|
|
|
NM_001375405.1(CEP120):c.2104-9A>G
|
|
|
NM_001375405.1(CEP120):c.213G>A (p.Gln71=)
|
|
|
NM_001375405.1(CEP120):c.2160G>A (p.Glu720=)
|
rs891338561
|
|
NM_001375405.1(CEP120):c.2196+11C>T
|
|
|
NM_001375405.1(CEP120):c.2196+8A>G
|
|
|
NM_001375405.1(CEP120):c.2197-10T>G
|
|
|
NM_001375405.1(CEP120):c.2197-8G>T
|
|
|
NM_001375405.1(CEP120):c.2302C>T (p.Leu768=)
|
|
|
NM_001375405.1(CEP120):c.2313A>G (p.Leu771=)
|
|
|
NM_001375405.1(CEP120):c.234A>G (p.Gln78=)
|
|
|
NM_001375405.1(CEP120):c.2358+10C>T
|
|
|
NM_001375405.1(CEP120):c.2406A>G (p.Gln802=)
|
|
|
NM_001375405.1(CEP120):c.2444G>A (p.Arg815His)
|
rs142792779
|
|
NM_001375405.1(CEP120):c.2481+20G>T
|
|
|
NM_001375405.1(CEP120):c.2482-20A>G
|
rs1226218781
|
|
NM_001375405.1(CEP120):c.2524C>T (p.Leu842=)
|
|
|
NM_001375405.1(CEP120):c.2581-16C>A
|
|
|
NM_001375405.1(CEP120):c.2581-16_2581-13del
|
rs1386199029
|
|
NM_001375405.1(CEP120):c.2726+13A>G
|
|
|
NM_001375405.1(CEP120):c.2726+16G>T
|
|
|
NM_001375405.1(CEP120):c.2726+19T>C
|
|
|
NM_001375405.1(CEP120):c.2726+20T>C
|
|
|
NM_001375405.1(CEP120):c.2781A>T (p.Gly927=)
|
|
|
NM_001375405.1(CEP120):c.285C>T (p.Ile95=)
|
|
|
NM_001375405.1(CEP120):c.2931G>A (p.Glu977=)
|
|
|
NM_001375405.1(CEP120):c.2961A>G (p.Ter987=)
|
|
|
NM_001375405.1(CEP120):c.303C>T (p.Thr101=)
|
|
|
NM_001375405.1(CEP120):c.464-18G>A
|
|
|
NM_001375405.1(CEP120):c.464-19C>A
|
rs776387918
|
|
NM_001375405.1(CEP120):c.464-9T>C
|
|
|
NM_001375405.1(CEP120):c.49+9C>T
|
rs774559516
|
|
NM_001375405.1(CEP120):c.50-10G>C
|
|
|
NM_001375405.1(CEP120):c.50-17A>G
|
|
|
NM_001375405.1(CEP120):c.528C>T (p.Gly176=)
|
|
|
NM_001375405.1(CEP120):c.60C>T (p.Phe20=)
|
|
|
NM_001375405.1(CEP120):c.613-7T>C
|
|
|
NM_001375405.1(CEP120):c.621A>G (p.Pro207=)
|
rs754583755
|
|
NM_001375405.1(CEP120):c.621A>T (p.Pro207=)
|
|
|
NM_001375405.1(CEP120):c.672T>C (p.Ser224=)
|
|
|
NM_001375405.1(CEP120):c.811-14C>G
|
|
|
NM_001375405.1(CEP120):c.882C>T (p.Gly294=)
|
|
|
NM_001377.3(DYNC2H1):c.1000-13T>C
|
|
|
NM_001377.3(DYNC2H1):c.1000-16T>C
|
|
|
NM_001377.3(DYNC2H1):c.1000-20G>C
|
rs2134713164
|
|
NM_001377.3(DYNC2H1):c.1000-8C>T
|
|
|
NM_001377.3(DYNC2H1):c.10011T>C (p.Tyr3337=)
|
|
|
NM_001377.3(DYNC2H1):c.10014A>G (p.Pro3338=)
|
|
|
NM_001377.3(DYNC2H1):c.10017A>G (p.Leu3339=)
|
|
|
NM_001377.3(DYNC2H1):c.10018T>C (p.Leu3340=)
|
|
|
NM_001377.3(DYNC2H1):c.10021A>C (p.Arg3341=)
|
rs886047573
|
|
NM_001377.3(DYNC2H1):c.10026A>C (p.Arg3342=)
|
|
|
NM_001377.3(DYNC2H1):c.10042+10T>A
|
|
|
NM_001377.3(DYNC2H1):c.10042+11G>A
|
|
|
NM_001377.3(DYNC2H1):c.10042+18T>G
|
|
|
NM_001377.3(DYNC2H1):c.10042+7_10042+10del
|
rs1483149779
|
|
NM_001377.3(DYNC2H1):c.10043-13T>C
|
|
|
NM_001377.3(DYNC2H1):c.10043-14_10043-13insG
|
|
|
NM_001377.3(DYNC2H1):c.10043-16_10043-15insTT
|
rs763760061
|
|
NM_001377.3(DYNC2H1):c.10043-16dup
|
rs763760061
|
|
NM_001377.3(DYNC2H1):c.10043-19G>T
|
|
|
NM_001377.3(DYNC2H1):c.10047A>G (p.Pro3349=)
|
|
|
NM_001377.3(DYNC2H1):c.10059A>C (p.Val3353=)
|
|
|
NM_001377.3(DYNC2H1):c.10065A>T (p.Ile3355=)
|
|
|
NM_001377.3(DYNC2H1):c.10068T>G (p.Gly3356=)
|
|
|
NM_001377.3(DYNC2H1):c.10080T>A (p.Ile3360=)
|
|
|
NM_001377.3(DYNC2H1):c.10101C>A (p.Arg3367=)
|
|
|
NM_001377.3(DYNC2H1):c.10104C>G (p.Leu3368=)
|
|
|
NM_001377.3(DYNC2H1):c.10108T>C (p.Leu3370=)
|
|
|
NM_001377.3(DYNC2H1):c.10116A>C (p.Thr3372=)
|
|
|
NM_001377.3(DYNC2H1):c.10122C>T (p.Asn3374=)
|
|
|
NM_001377.3(DYNC2H1):c.10131T>A (p.Pro3377=)
|
|
|
NM_001377.3(DYNC2H1):c.10134T>C (p.Phe3378=)
|
|
|
NM_001377.3(DYNC2H1):c.10143G>T (p.Pro3381=)
|
|
|
NM_001377.3(DYNC2H1):c.10152T>G (p.Ala3384=)
|
rs886047574
|
|
NM_001377.3(DYNC2H1):c.10164T>A (p.Thr3388=)
|
rs11225634
|
|
NM_001377.3(DYNC2H1):c.10167G>A (p.Glu3389=)
|
|
|
NM_001377.3(DYNC2H1):c.10176T>C (p.Phe3392=)
|
|
|
NM_001377.3(DYNC2H1):c.10179T>C (p.Thr3393=)
|
|
|
NM_001377.3(DYNC2H1):c.10186A>C (p.Arg3396=)
|
|
|
NM_001377.3(DYNC2H1):c.10206+10G>A
|
|
|
NM_001377.3(DYNC2H1):c.10206+10G>C
|
|
|
NM_001377.3(DYNC2H1):c.10206+11A>T
|
|
|
NM_001377.3(DYNC2H1):c.10206+11ATA[2]
|
|
|
NM_001377.3(DYNC2H1):c.10206+14A>G
|
|
|
NM_001377.3(DYNC2H1):c.10206+6_10206+9dup
|
|
|
NM_001377.3(DYNC2H1):c.10206+7A>G
|
|
|
NM_001377.3(DYNC2H1):c.10207-10T>C
|
|
|
NM_001377.3(DYNC2H1):c.10207-16T>G
|
|
|
NM_001377.3(DYNC2H1):c.10207-20T>A
|
|
|
NM_001377.3(DYNC2H1):c.10207-7T>C
|
|
|
NM_001377.3(DYNC2H1):c.10209T>G (p.Leu3403=)
|
|
|
NM_001377.3(DYNC2H1):c.10210T>C (p.Leu3404=)
|
|
|
NM_001377.3(DYNC2H1):c.10221C>T (p.Thr3407=)
|
|
|
NM_001377.3(DYNC2H1):c.10227G>A (p.Gln3409=)
|
|
|
NM_001377.3(DYNC2H1):c.10242T>C (p.Asp3414=)
|
|
|
NM_001377.3(DYNC2H1):c.10252C>G (p.Gln3418Glu)
|
rs543525711
|
|
NM_001377.3(DYNC2H1):c.10267T>C (p.Leu3423=)
|
|
|
NM_001377.3(DYNC2H1):c.10272A>G (p.Gln3424=)
|
|
|
NM_001377.3(DYNC2H1):c.10275G>A (p.Gln3425=)
|
|
|
NM_001377.3(DYNC2H1):c.10305G>A (p.Lys3435=)
|
|
|
NM_001377.3(DYNC2H1):c.10308C>T (p.Leu3436=)
|
rs991452927
|
|
NM_001377.3(DYNC2H1):c.10326+13C>T
|
|
|
NM_001377.3(DYNC2H1):c.10326+7G>A
|
|
|
NM_001377.3(DYNC2H1):c.10326+7G>C
|
|
|
NM_001377.3(DYNC2H1):c.10326+9C>T
|
|
|
NM_001377.3(DYNC2H1):c.10327-10T>C
|
|
|
NM_001377.3(DYNC2H1):c.10327-18T>G
|
|
|
NM_001377.3(DYNC2H1):c.10327-18del
|
|
|
NM_001377.3(DYNC2H1):c.10327-6C>T
|
|
|
NM_001377.3(DYNC2H1):c.10327-7C>T
|
|
|
NM_001377.3(DYNC2H1):c.10329A>G (p.Thr3443=)
|
|
|
NM_001377.3(DYNC2H1):c.10335C>G (p.Ala3445=)
|
|
|
NM_001377.3(DYNC2H1):c.10338A>T (p.Thr3446=)
|
|
|
NM_001377.3(DYNC2H1):c.10350T>C (p.Asn3450=)
|
|
|
NM_001377.3(DYNC2H1):c.10365G>A (p.Lys3455=)
|
|
|
NM_001377.3(DYNC2H1):c.10407A>C (p.Ala3469=)
|
|
|
NM_001377.3(DYNC2H1):c.10419G>A (p.Glu3473=)
|
|
|
NM_001377.3(DYNC2H1):c.1044A>G (p.Leu348=)
|
|
|
NM_001377.3(DYNC2H1):c.10455T>C (p.Leu3485=)
|
|
|
NM_001377.3(DYNC2H1):c.10461+14T>C
|
|
|
NM_001377.3(DYNC2H1):c.10462-10del
|
|
|
NM_001377.3(DYNC2H1):c.10462-13T>C
|
|
|
NM_001377.3(DYNC2H1):c.10462-4A>C
|
|
|
NM_001377.3(DYNC2H1):c.10462-4A>G
|
|
|
NM_001377.3(DYNC2H1):c.10473C>A (p.Ala3491=)
|
|
|
NM_001377.3(DYNC2H1):c.10482C>G (p.Pro3494=)
|
|
|
NM_001377.3(DYNC2H1):c.10497C>T (p.Ala3499=)
|
|
|
NM_001377.3(DYNC2H1):c.10524T>C (p.Asp3508=)
|
|
|
NM_001377.3(DYNC2H1):c.10554T>C (p.Phe3518=)
|
|
|
NM_001377.3(DYNC2H1):c.10591C>T (p.Leu3531=)
|
|
|
NM_001377.3(DYNC2H1):c.10593A>G (p.Leu3531=)
|
|
|
NM_001377.3(DYNC2H1):c.10605+13A>G
|
|
|
NM_001377.3(DYNC2H1):c.10605+16C>A
|
|
|
NM_001377.3(DYNC2H1):c.10605+17C>T
|
|
|
NM_001377.3(DYNC2H1):c.10605+18C>G
|
|
|
NM_001377.3(DYNC2H1):c.10605+18del
|
|
|
NM_001377.3(DYNC2H1):c.10605+8G>A
|
|
|
NM_001377.3(DYNC2H1):c.10605+8del
|
|
|
NM_001377.3(DYNC2H1):c.10606-11A>G
|
|
|
NM_001377.3(DYNC2H1):c.10606-16C>T
|
|
|
NM_001377.3(DYNC2H1):c.10606-17C>T
|
|
|
NM_001377.3(DYNC2H1):c.10606-4A>G
|
|
|
NM_001377.3(DYNC2H1):c.10606-6C>T
|
rs1020258384
|
|
NM_001377.3(DYNC2H1):c.10632C>T (p.Ile3544=)
|
|
|
NM_001377.3(DYNC2H1):c.10638A>C (p.Ser3546=)
|
|
|
NM_001377.3(DYNC2H1):c.10647C>T (p.Ser3549=)
|
|
|
NM_001377.3(DYNC2H1):c.10668T>C (p.Tyr3556=)
|
|
|
NM_001377.3(DYNC2H1):c.10687C>T (p.Leu3563=)
|
|
|
NM_001377.3(DYNC2H1):c.10689A>G (p.Leu3563=)
|
|
|
NM_001377.3(DYNC2H1):c.10695+10A>T
|
|
|
NM_001377.3(DYNC2H1):c.10695+11T>C
|
|
|
NM_001377.3(DYNC2H1):c.10695+19T>C
|
|
|
NM_001377.3(DYNC2H1):c.10695+8G>A
|
|
|
NM_001377.3(DYNC2H1):c.10695+9C>A
|
|
|
NM_001377.3(DYNC2H1):c.10696-11A>G
|
|
|
NM_001377.3(DYNC2H1):c.10696-16_10696-15del
|
|
|
NM_001377.3(DYNC2H1):c.10707G>A (p.Leu3569=)
|
|
|
NM_001377.3(DYNC2H1):c.10716T>C (p.Ala3572=)
|
|
|
NM_001377.3(DYNC2H1):c.10740T>C (p.His3580=)
|
|
|
NM_001377.3(DYNC2H1):c.10761+10A>G
|
|
|
NM_001377.3(DYNC2H1):c.10761+15A>G
|
|
|
NM_001377.3(DYNC2H1):c.10761+20A>G
|
|
|
NM_001377.3(DYNC2H1):c.10761+7C>A
|
|
|
NM_001377.3(DYNC2H1):c.10761+7C>T
|
|
|
NM_001377.3(DYNC2H1):c.10762-17A>G
|
|
|
NM_001377.3(DYNC2H1):c.10762-20C>T
|
|
|
NM_001377.3(DYNC2H1):c.10762-7T>A
|
|
|
NM_001377.3(DYNC2H1):c.10762-9A>G
|
|
|
NM_001377.3(DYNC2H1):c.10812+17A>C
|
|
|
NM_001377.3(DYNC2H1):c.10812+18_10812+19del
|
|
|
NM_001377.3(DYNC2H1):c.10812+19A>G
|
|
|
NM_001377.3(DYNC2H1):c.10813-12C>T
|
|
|
NM_001377.3(DYNC2H1):c.10813-13G>C
|
|
|
NM_001377.3(DYNC2H1):c.10813-16A>C
|
|
|
NM_001377.3(DYNC2H1):c.10818T>C (p.Ser3606=)
|
|
|
NM_001377.3(DYNC2H1):c.10821A>G (p.Gln3607=)
|
|
|
NM_001377.3(DYNC2H1):c.10830A>T (p.Ile3610=)
|
|
|
NM_001377.3(DYNC2H1):c.10863A>G (p.Glu3621=)
|
|
|
NM_001377.3(DYNC2H1):c.10875C>T (p.Ala3625=)
|
|
|
NM_001377.3(DYNC2H1):c.10881A>G (p.Ala3627=)
|
|
|
NM_001377.3(DYNC2H1):c.10884A>C (p.Thr3628=)
|
rs371844948
|
|
NM_001377.3(DYNC2H1):c.10884A>G (p.Thr3628=)
|
|
|
NM_001377.3(DYNC2H1):c.10887A>G (p.Leu3629=)
|
|
|
NM_001377.3(DYNC2H1):c.10890+10_10890+11insA
|
|
|
NM_001377.3(DYNC2H1):c.10890+11T>G
|
|
|
NM_001377.3(DYNC2H1):c.10890+17A>G
|
|
|
NM_001377.3(DYNC2H1):c.10890+17A>T
|
|
|
NM_001377.3(DYNC2H1):c.10890+18T>G
|
|
|
NM_001377.3(DYNC2H1):c.10891-17C>T
|
|
|
NM_001377.3(DYNC2H1):c.10891-18G>C
|
|
|
NM_001377.3(DYNC2H1):c.10891-6T>G
|
|
|
NM_001377.3(DYNC2H1):c.10891-7T>A
|
|
|
NM_001377.3(DYNC2H1):c.10891-7T>G
|
|
|
NM_001377.3(DYNC2H1):c.10891-9A>G
|
rs2135352679
|
|
NM_001377.3(DYNC2H1):c.10893T>C (p.Ile3631=)
|
|
|
NM_001377.3(DYNC2H1):c.108T>C (p.Cys36=)
|
|
|
NM_001377.3(DYNC2H1):c.10902C>T (p.Pro3634=)
|
|
|
NM_001377.3(DYNC2H1):c.10908T>G (p.Leu3636=)
|
|
|
NM_001377.3(DYNC2H1):c.10920C>A (p.Leu3640=)
|
rs530445230
|
|
NM_001377.3(DYNC2H1):c.10920C>T (p.Leu3640=)
|
|
|
NM_001377.3(DYNC2H1):c.10941G>A (p.Leu3647=)
|
|
|
NM_001377.3(DYNC2H1):c.10953T>C (p.Tyr3651=)
|
|
|
NM_001377.3(DYNC2H1):c.10974G>A (p.Glu3658=)
|
|
|
NM_001377.3(DYNC2H1):c.11004A>G (p.Lys3668=)
|
|
|
NM_001377.3(DYNC2H1):c.11022+15_11022+63dup
|
|
|
NM_001377.3(DYNC2H1):c.11022+17T>A
|
|
|
NM_001377.3(DYNC2H1):c.11022+9T>C
|
|
|
NM_001377.3(DYNC2H1):c.11023-17C>T
|
|
|
NM_001377.3(DYNC2H1):c.11028T>C (p.Leu3676=)
|
|
|
NM_001377.3(DYNC2H1):c.11039_11040delinsTA (p.Ala3680Val)
|
|
|
NM_001377.3(DYNC2H1):c.11061A>G (p.Gln3687=)
|
|
|
NM_001377.3(DYNC2H1):c.11082A>G (p.Ala3694=)
|
|
|
NM_001377.3(DYNC2H1):c.11092C>T (p.Leu3698=)
|
|
|
NM_001377.3(DYNC2H1):c.11095+13C>G
|
|
|
NM_001377.3(DYNC2H1):c.11095+13C>T
|
|
|
NM_001377.3(DYNC2H1):c.11095+7G>C
|
|
|
NM_001377.3(DYNC2H1):c.11096-10T>C
|
|
|
NM_001377.3(DYNC2H1):c.11096-16A>C
|
|
|
NM_001377.3(DYNC2H1):c.11096-16A>T
|
|
|
NM_001377.3(DYNC2H1):c.11096-8T>C
|
|
|
NM_001377.3(DYNC2H1):c.11100G>A (p.Leu3700=)
|
|
|
NM_001377.3(DYNC2H1):c.11106G>A (p.Glu3702=)
|
|
|
NM_001377.3(DYNC2H1):c.11122C>T (p.Leu3708=)
|
|
|
NM_001377.3(DYNC2H1):c.11145A>G (p.Lys3715=)
|
|
|
NM_001377.3(DYNC2H1):c.11151A>G (p.Thr3717=)
|
|
|
NM_001377.3(DYNC2H1):c.11160T>C (p.Ile3720=)
|
|
|
NM_001377.3(DYNC2H1):c.11169C>T (p.Ile3723=)
|
|
|
NM_001377.3(DYNC2H1):c.11184T>A (p.Ser3728=)
|
rs863224375
|
|
NM_001377.3(DYNC2H1):c.11239G>A (p.Gly3747Arg)
|
|
|
NM_001377.3(DYNC2H1):c.11244G>A (p.Glu3748=)
|
|
|
NM_001377.3(DYNC2H1):c.11256+11A>G
|
|
|
NM_001377.3(DYNC2H1):c.11256+14G>A
|
|
|
NM_001377.3(DYNC2H1):c.11256+19G>A
|
|
|
NM_001377.3(DYNC2H1):c.11256+8C>T
|
rs1405925153
|
|
NM_001377.3(DYNC2H1):c.11257-11T>C
|
|
|
NM_001377.3(DYNC2H1):c.11257-17T>C
|
|
|
NM_001377.3(DYNC2H1):c.11257-18G>A
|
|
|
NM_001377.3(DYNC2H1):c.11257-20T>C
|
|
|
NM_001377.3(DYNC2H1):c.11257-4G>A
|
|
|
NM_001377.3(DYNC2H1):c.1125A>G (p.Pro375=)
|
|
|
NM_001377.3(DYNC2H1):c.11262C>A (p.Ala3754=)
|
|
|
NM_001377.3(DYNC2H1):c.11292T>A (p.Ile3764=)
|
|
|
NM_001377.3(DYNC2H1):c.11295A>G (p.Gln3765=)
|
|
|
NM_001377.3(DYNC2H1):c.11301A>G (p.Leu3767=)
|
|
|
NM_001377.3(DYNC2H1):c.11301A>T (p.Leu3767=)
|
rs778574130
|
|
NM_001377.3(DYNC2H1):c.11319T>C (p.Asn3773=)
|
|
|
NM_001377.3(DYNC2H1):c.11325C>T (p.Asp3775=)
|
|
|
NM_001377.3(DYNC2H1):c.11334T>C (p.Cys3778=)
|
|
|
NM_001377.3(DYNC2H1):c.11335T>C (p.Leu3779=)
|
|
|
NM_001377.3(DYNC2H1):c.1134+20A>G
|
|
|
NM_001377.3(DYNC2H1):c.1134+9T>C
|
|
|
NM_001377.3(DYNC2H1):c.11340G>A (p.Lys3780=)
|
|
|
NM_001377.3(DYNC2H1):c.11343C>T (p.Asn3781=)
|
|
|
NM_001377.3(DYNC2H1):c.1135-12T>A
|
|
|
NM_001377.3(DYNC2H1):c.1135-17G>A
|
rs2134714400
|
|
NM_001377.3(DYNC2H1):c.1135-18T>C
|
|
|
NM_001377.3(DYNC2H1):c.1135-5T>C
|
|
|
NM_001377.3(DYNC2H1):c.1135-6A>G
|
|
|
NM_001377.3(DYNC2H1):c.1135-7T>A
|
|
|
NM_001377.3(DYNC2H1):c.1135-8G>A
|
|
|
NM_001377.3(DYNC2H1):c.1135-9T>C
|
|
|
NM_001377.3(DYNC2H1):c.11358A>G (p.Val3786=)
|
rs573193401
|
|
NM_001377.3(DYNC2H1):c.11358A>T (p.Val3786=)
|
|
|
NM_001377.3(DYNC2H1):c.11367G>A (p.Leu3789=)
|
|
|
NM_001377.3(DYNC2H1):c.11370A>G (p.Pro3790=)
|
|
|
NM_001377.3(DYNC2H1):c.11370A>T (p.Pro3790=)
|
|
|
NM_001377.3(DYNC2H1):c.1137C>T (p.Pro379=)
|
|
|
NM_001377.3(DYNC2H1):c.11382+17_11382+18insCGG
|
rs10690307
|
|
NM_001377.3(DYNC2H1):c.11382+7_11382+16del
|
rs769400590
|
|
NM_001377.3(DYNC2H1):c.11382+8C>G
|
|
|
NM_001377.3(DYNC2H1):c.11382+9A>C
|
|
|
NM_001377.3(DYNC2H1):c.11383-17T>C
|
|
|
NM_001377.3(DYNC2H1):c.11383-18A>G
|
|
|
NM_001377.3(DYNC2H1):c.11383-7A>G
|
|
|
NM_001377.3(DYNC2H1):c.11383-9G>A
|
|
|
NM_001377.3(DYNC2H1):c.11394T>A (p.Thr3798=)
|
|
|
NM_001377.3(DYNC2H1):c.11394T>C (p.Thr3798=)
|
|
|
NM_001377.3(DYNC2H1):c.11400A>G (p.Gln3800=)
|
|
|
NM_001377.3(DYNC2H1):c.1140G>A (p.Leu380=)
|
|
|
NM_001377.3(DYNC2H1):c.11427C>T (p.Leu3809=)
|
|
|
NM_001377.3(DYNC2H1):c.11445C>A (p.Pro3815=)
|
|
|
NM_001377.3(DYNC2H1):c.11448C>T (p.Asn3816=)
|
|
|
NM_001377.3(DYNC2H1):c.11457T>C (p.Pro3819=)
|
|
|
NM_001377.3(DYNC2H1):c.11490T>C (p.Tyr3830=)
|
|
|
NM_001377.3(DYNC2H1):c.11493+11T>A
|
|
|
NM_001377.3(DYNC2H1):c.11493+14A>C
|
|
|
NM_001377.3(DYNC2H1):c.11493+17C>T
|
|
|
NM_001377.3(DYNC2H1):c.11493+19T>C
|
|
|
NM_001377.3(DYNC2H1):c.11493+20G>A
|
|
|
NM_001377.3(DYNC2H1):c.11493+7_11493+9del
|
|
|
NM_001377.3(DYNC2H1):c.11493+8G>T
|
|
|
NM_001377.3(DYNC2H1):c.11494-16T>C
|
|
|
NM_001377.3(DYNC2H1):c.11494-17G>A
|
|
|
NM_001377.3(DYNC2H1):c.11494-18T>C
|
|
|
NM_001377.3(DYNC2H1):c.11494-20T>C
|
|
|
NM_001377.3(DYNC2H1):c.11494-4C>G
|
|
|
NM_001377.3(DYNC2H1):c.11517T>C (p.Asn3839=)
|
|
|
NM_001377.3(DYNC2H1):c.11526T>C (p.Arg3842=)
|
|
|
NM_001377.3(DYNC2H1):c.11532T>C (p.Tyr3844=)
|
|
|
NM_001377.3(DYNC2H1):c.11544T>A (p.Thr3848=)
|
|
|
NM_001377.3(DYNC2H1):c.11562A>G (p.Lys3854=)
|
|
|
NM_001377.3(DYNC2H1):c.11589T>C (p.Ala3863=)
|
|
|
NM_001377.3(DYNC2H1):c.1158T>G (p.Ser386=)
|
|
|
NM_001377.3(DYNC2H1):c.11598T>C (p.Ser3866=)
|
|
|
NM_001377.3(DYNC2H1):c.11649+11A>G
|
|
|
NM_001377.3(DYNC2H1):c.11649+20G>T
|
|
|
NM_001377.3(DYNC2H1):c.11649+7A>G
|
|
|
NM_001377.3(DYNC2H1):c.11649+8A>G
|
|
|
NM_001377.3(DYNC2H1):c.1164T>C (p.Tyr388=)
|
|
|
NM_001377.3(DYNC2H1):c.11650-10T>G
|
|
|
NM_001377.3(DYNC2H1):c.11650-12G>A
|
|
|
NM_001377.3(DYNC2H1):c.11650-14T>A
|
|
|
NM_001377.3(DYNC2H1):c.11650-14T>C
|
|
|
NM_001377.3(DYNC2H1):c.11650-17_11650-15del
|
|
|
NM_001377.3(DYNC2H1):c.11650-6T>C
|
|
|
NM_001377.3(DYNC2H1):c.11661G>A (p.Lys3887=)
|
|
|
NM_001377.3(DYNC2H1):c.11725+13A>G
|
|
|
NM_001377.3(DYNC2H1):c.11725+16_11725+17del
|
rs751817148
|
|
NM_001377.3(DYNC2H1):c.11725+8C>A
|
|
|
NM_001377.3(DYNC2H1):c.11726-17T>G
|
|
|
NM_001377.3(DYNC2H1):c.11726-19T>C
|
|
|
NM_001377.3(DYNC2H1):c.11726-20G>T
|
|
|
NM_001377.3(DYNC2H1):c.11730C>T (p.Ala3910=)
|
|
|
NM_001377.3(DYNC2H1):c.1173T>C (p.Ile391=)
|
|
|
NM_001377.3(DYNC2H1):c.11751T>C (p.Phe3917=)
|
|
|
NM_001377.3(DYNC2H1):c.11772T>C (p.Asn3924=)
|
|
|
NM_001377.3(DYNC2H1):c.11775T>C (p.Ala3925=)
|
|
|
NM_001377.3(DYNC2H1):c.11784A>T (p.Gly3928=)
|
|
|
NM_001377.3(DYNC2H1):c.11790T>C (p.Arg3930=)
|
|
|
NM_001377.3(DYNC2H1):c.11796C>T (p.Asp3932=)
|
|
|
NM_001377.3(DYNC2H1):c.1179A>G (p.Ala393=)
|
|
|
NM_001377.3(DYNC2H1):c.11808C>T (p.Asp3936=)
|
|
|
NM_001377.3(DYNC2H1):c.11826A>G (p.Ser3942=)
|
|
|
NM_001377.3(DYNC2H1):c.11835G>A (p.Lys3945=)
|
|
|
NM_001377.3(DYNC2H1):c.11853A>C (p.Ser3951=)
|
|
|
NM_001377.3(DYNC2H1):c.1185G>A (p.Ala395=)
|
|
|
NM_001377.3(DYNC2H1):c.11865A>G (p.Val3955=)
|
|
|
NM_001377.3(DYNC2H1):c.11907A>C (p.Val3969=)
|
rs761013012
|
|
NM_001377.3(DYNC2H1):c.11907A>T (p.Val3969=)
|
|
|
NM_001377.3(DYNC2H1):c.11913A>G (p.Leu3971=)
|
|
|
NM_001377.3(DYNC2H1):c.11934+18T>A
|
|
|
NM_001377.3(DYNC2H1):c.11935-12C>G
|
|
|
NM_001377.3(DYNC2H1):c.11935-12_11935-10del
|
rs572104795
|
|
NM_001377.3(DYNC2H1):c.11935-17dup
|
|
|
NM_001377.3(DYNC2H1):c.11943T>C (p.Arg3981=)
|
|
|
NM_001377.3(DYNC2H1):c.11955G>A (p.Glu3985=)
|
rs2135444475
|
|
NM_001377.3(DYNC2H1):c.11964A>G (p.Pro3988=)
|
rs1591578553
|
|
NM_001377.3(DYNC2H1):c.11982T>C (p.Ser3994=)
|
|
|
NM_001377.3(DYNC2H1):c.12012C>T (p.Arg4004=)
|
|
|
NM_001377.3(DYNC2H1):c.12018T>G (p.Ser4006=)
|
|
|
NM_001377.3(DYNC2H1):c.12030C>A (p.Ile4010=)
|
|
|
NM_001377.3(DYNC2H1):c.12030C>T (p.Ile4010=)
|
|
|
NM_001377.3(DYNC2H1):c.12039+13A>G
|
|
|
NM_001377.3(DYNC2H1):c.12039+14A>C
|
|
|
NM_001377.3(DYNC2H1):c.12039+16G>T
|
|
|
NM_001377.3(DYNC2H1):c.12039+19C>A
|
|
|
NM_001377.3(DYNC2H1):c.12039+19C>G
|
|
|
NM_001377.3(DYNC2H1):c.12039+8A>G
|
|
|
NM_001377.3(DYNC2H1):c.12039+8A>T
|
|
|
NM_001377.3(DYNC2H1):c.12040-14_12040-12del
|
|
|
NM_001377.3(DYNC2H1):c.12040-14del
|
|
|
NM_001377.3(DYNC2H1):c.12040-15T>C
|
|
|
NM_001377.3(DYNC2H1):c.12040-16T>C
|
|
|
NM_001377.3(DYNC2H1):c.12040-20C>T
|
|
|
NM_001377.3(DYNC2H1):c.12040-4T>G
|
|
|
NM_001377.3(DYNC2H1):c.12040-7T>C
|
|
|
NM_001377.3(DYNC2H1):c.12051G>A (p.Gln4017=)
|
|
|
NM_001377.3(DYNC2H1):c.12063G>A (p.Leu4021=)
|
rs2135525774
|
|
NM_001377.3(DYNC2H1):c.12066C>T (p.Gly4022=)
|
|
|
NM_001377.3(DYNC2H1):c.12072C>G (p.Ser4024=)
|
|
|
NM_001377.3(DYNC2H1):c.1207T>C (p.Leu403=)
|
|
|
NM_001377.3(DYNC2H1):c.12129C>A (p.Val4043=)
|
|
|
NM_001377.3(DYNC2H1):c.12153C>T (p.Asn4051=)
|
|
|
NM_001377.3(DYNC2H1):c.12156+14T>A
|
|
|
NM_001377.3(DYNC2H1):c.12156+16T>C
|
|
|
NM_001377.3(DYNC2H1):c.12156+7A>G
|
|
|
NM_001377.3(DYNC2H1):c.12157-16G>A
|
|
|
NM_001377.3(DYNC2H1):c.12157-17T>C
|
|
|
NM_001377.3(DYNC2H1):c.12157-18A>G
|
|
|
NM_001377.3(DYNC2H1):c.12157-20T>C
|
|
|
NM_001377.3(DYNC2H1):c.12157-7_12157-6del
|
|
|
NM_001377.3(DYNC2H1):c.12207A>T (p.Gly4069=)
|
|
|
NM_001377.3(DYNC2H1):c.12213A>G (p.Pro4071=)
|
|
|
NM_001377.3(DYNC2H1):c.12218T>C (p.Leu4073Pro)
|
|
|
NM_001377.3(DYNC2H1):c.1224A>G (p.Ser408=)
|
|
|
NM_001377.3(DYNC2H1):c.12282T>G (p.Leu4094=)
|
|
|
NM_001377.3(DYNC2H1):c.12300C>G (p.Val4100=)
|
|
|
NM_001377.3(DYNC2H1):c.12321G>C (p.Leu4107=)
|
|
|
NM_001377.3(DYNC2H1):c.12327A>G (p.Ser4109=)
|
|
|
NM_001377.3(DYNC2H1):c.12330A>G (p.Glu4110=)
|
rs1361992864
|
|
NM_001377.3(DYNC2H1):c.12339A>G (p.Lys4113=)
|
|
|
NM_001377.3(DYNC2H1):c.12340T>C (p.Leu4114=)
|
|
|
NM_001377.3(DYNC2H1):c.12348T>C (p.Ser4116=)
|
|
|
NM_001377.3(DYNC2H1):c.12351T>A (p.Ala4117=)
|
|
|
NM_001377.3(DYNC2H1):c.12360C>T (p.Asn4120=)
|
|
|
NM_001377.3(DYNC2H1):c.12366+15dup
|
rs772094595
|
|
NM_001377.3(DYNC2H1):c.12366+16C>T
|
|
|
NM_001377.3(DYNC2H1):c.12366+17T>A
|
|
|
NM_001377.3(DYNC2H1):c.12366+19T>C
|
|
|
NM_001377.3(DYNC2H1):c.12366+20A>G
|
|
|
NM_001377.3(DYNC2H1):c.12366+7_12366+8delinsAG
|
rs1555119964
|
|
NM_001377.3(DYNC2H1):c.12366+9G>A
|
|
|
NM_001377.3(DYNC2H1):c.12367-15C>G
|
|
|
NM_001377.3(DYNC2H1):c.12367-6T>C
|
|
|
NM_001377.3(DYNC2H1):c.12369T>C (p.Cys4123=)
|
|
|
NM_001377.3(DYNC2H1):c.12387C>T (p.Ser4129=)
|
|
|
NM_001377.3(DYNC2H1):c.12417A>G (p.Gln4139=)
|
|
|
NM_001377.3(DYNC2H1):c.12423G>A (p.Leu4141=)
|
|
|
NM_001377.3(DYNC2H1):c.12429T>C (p.Gly4143=)
|
|
|
NM_001377.3(DYNC2H1):c.1242A>C (p.Pro414=)
|
|
|
NM_001377.3(DYNC2H1):c.1242A>G (p.Pro414=)
|
|
|
NM_001377.3(DYNC2H1):c.12444C>A (p.Ala4148=)
|
|
|
NM_001377.3(DYNC2H1):c.12456+10A>C
|
|
|
NM_001377.3(DYNC2H1):c.12457-11C>T
|
|
|
NM_001377.3(DYNC2H1):c.12457-12C>T
|
|
|
NM_001377.3(DYNC2H1):c.12457-14T>C
|
|
|
NM_001377.3(DYNC2H1):c.12457-14T>G
|
|
|
NM_001377.3(DYNC2H1):c.12457-16A>G
|
|
|
NM_001377.3(DYNC2H1):c.12457-18A>C
|
|
|
NM_001377.3(DYNC2H1):c.12457-18A>T
|
|
|
NM_001377.3(DYNC2H1):c.12457-4C>G
|
|
|
NM_001377.3(DYNC2H1):c.12457-5del
|
|
|
NM_001377.3(DYNC2H1):c.12457-6C>G
|
|
|
NM_001377.3(DYNC2H1):c.12457-7C>T
|
|
|
NM_001377.3(DYNC2H1):c.1245G>A (p.Gln415=)
|
|
|
NM_001377.3(DYNC2H1):c.12465A>G (p.Val4155=)
|
|
|
NM_001377.3(DYNC2H1):c.12474T>C (p.Ala4158=)
|
|
|
NM_001377.3(DYNC2H1):c.1248+10T>C
|
|
|
NM_001377.3(DYNC2H1):c.1248+10T>G
|
|
|
NM_001377.3(DYNC2H1):c.1248+16A>G
|
|
|
NM_001377.3(DYNC2H1):c.1248+7C>G
|
|
|
NM_001377.3(DYNC2H1):c.1249-17A>G
|
|
|
NM_001377.3(DYNC2H1):c.1249-4T>C
|
|
|
NM_001377.3(DYNC2H1):c.1249-5A>G
|
|
|
NM_001377.3(DYNC2H1):c.12510A>G (p.Leu4170=)
|
|
|
NM_001377.3(DYNC2H1):c.12525T>C (p.His4175=)
|
|
|
NM_001377.3(DYNC2H1):c.12528A>C (p.Pro4176=)
|
|
|
NM_001377.3(DYNC2H1):c.12528A>G (p.Pro4176=)
|
|
|
NM_001377.3(DYNC2H1):c.12534A>C (p.Thr4178=)
|
|
|
NM_001377.3(DYNC2H1):c.12543T>C (p.Asn4181=)
|
|
|
NM_001377.3(DYNC2H1):c.12566+10A>C
|
|
|
NM_001377.3(DYNC2H1):c.12566+14A>C
|
|
|
NM_001377.3(DYNC2H1):c.12566+15A>T
|
|
|
NM_001377.3(DYNC2H1):c.12566+16T>C
|
rs2135805720
|
|
NM_001377.3(DYNC2H1):c.12567-10_12567-9dup
|
|
|
NM_001377.3(DYNC2H1):c.12567-13T>C
|
|
|
NM_001377.3(DYNC2H1):c.12567-14C>G
|
|
|
NM_001377.3(DYNC2H1):c.12567-15G>A
|
|
|
NM_001377.3(DYNC2H1):c.12567-18G>A
|
|
|
NM_001377.3(DYNC2H1):c.12567-19T>G
|
|
|
NM_001377.3(DYNC2H1):c.12567-8_12567-3del
|
|
|
NM_001377.3(DYNC2H1):c.12570A>C (p.Ala4190=)
|
rs138434836
|
|
NM_001377.3(DYNC2H1):c.12582T>C (p.Ser4194=)
|
|
|
NM_001377.3(DYNC2H1):c.12588T>C (p.Asp4196=)
|
|
|
NM_001377.3(DYNC2H1):c.12591C>T (p.Ser4197=)
|
|
|
NM_001377.3(DYNC2H1):c.12606C>G (p.Ala4202=)
|
|
|
NM_001377.3(DYNC2H1):c.12606C>T (p.Ala4202=)
|
|
|
NM_001377.3(DYNC2H1):c.12615A>G (p.Lys4205=)
|
|
|
NM_001377.3(DYNC2H1):c.12633A>G (p.Ala4211=)
|
|
|
NM_001377.3(DYNC2H1):c.12645T>C (p.Ile4215=)
|
|
|
NM_001377.3(DYNC2H1):c.12648+16T>C
|
|
|
NM_001377.3(DYNC2H1):c.12648+17A>C
|
|
|
NM_001377.3(DYNC2H1):c.12648+7G>C
|
|
|
NM_001377.3(DYNC2H1):c.12649-16T>C
|
|
|
NM_001377.3(DYNC2H1):c.12649-17A>G
|
|
|
NM_001377.3(DYNC2H1):c.12649-19A>G
|
|
|
NM_001377.3(DYNC2H1):c.12649-19A>T
|
|
|
NM_001377.3(DYNC2H1):c.12649-4G>C
|
|
|
NM_001377.3(DYNC2H1):c.12649-7A>G
|
|
|
NM_001377.3(DYNC2H1):c.12664C>T (p.Leu4222=)
|
|
|
NM_001377.3(DYNC2H1):c.1266G>A (p.Leu422=)
|
|
|
NM_001377.3(DYNC2H1):c.12684T>C (p.Asp4228=)
|
|
|
NM_001377.3(DYNC2H1):c.12708G>A (p.Gln4236=)
|
|
|
NM_001377.3(DYNC2H1):c.12723C>T (p.Ser4241=)
|
|
|
NM_001377.3(DYNC2H1):c.1272T>C (p.Tyr424=)
|
|
|
NM_001377.3(DYNC2H1):c.12741T>C (p.Pro4247=)
|
|
|
NM_001377.3(DYNC2H1):c.12765+14A>G
|
|
|
NM_001377.3(DYNC2H1):c.12765+18A>G
|
|
|
NM_001377.3(DYNC2H1):c.12765+18del
|
|
|
NM_001377.3(DYNC2H1):c.12765+8A>G
|
|
|
NM_001377.3(DYNC2H1):c.12766-10T>C
|
|
|
NM_001377.3(DYNC2H1):c.12766-12T>C
|
|
|
NM_001377.3(DYNC2H1):c.12766-13A>G
|
|
|
NM_001377.3(DYNC2H1):c.12766-16G>C
|
|
|
NM_001377.3(DYNC2H1):c.12766-20A>T
|
|
|
NM_001377.3(DYNC2H1):c.12771A>G (p.Ala4257=)
|
|
|
NM_001377.3(DYNC2H1):c.12789G>A (p.Pro4263=)
|
|
|
NM_001377.3(DYNC2H1):c.1278G>A (p.Glu426=)
|
|
|
NM_001377.3(DYNC2H1):c.12795G>A (p.Glu4265=)
|
|
|
NM_001377.3(DYNC2H1):c.12798C>T (p.Cys4266=)
|
|
|
NM_001377.3(DYNC2H1):c.12810T>C (p.Pro4270=)
|
|
|
NM_001377.3(DYNC2H1):c.12831G>A (p.Arg4277=)
|
|
|
NM_001377.3(DYNC2H1):c.1284A>G (p.Val428=)
|
|
|
NM_001377.3(DYNC2H1):c.12858T>C (p.Val4286=)
|
|
|
NM_001377.3(DYNC2H1):c.12861A>G (p.Pro4287=)
|
|
|
NM_001377.3(DYNC2H1):c.12879C>T (p.Asp4293=)
|
|
|
NM_001377.3(DYNC2H1):c.12882G>A (p.Gln4294=)
|
|
|
NM_001377.3(DYNC2H1):c.12888T>C (p.Ile4296=)
|
|
|
NM_001377.3(DYNC2H1):c.12900A>G (p.Ala4300=)
|
|
|
NM_001377.3(DYNC2H1):c.12912A>C (p.Leu4304=)
|
|
|
NM_001377.3(DYNC2H1):c.12912A>G (p.Leu4304=)
|
|
|
NM_001377.3(DYNC2H1):c.12916A>G (p.Asn4306Asp)
|
rs200264343
|
|
NM_001377.3(DYNC2H1):c.12918T>C (p.Asn4306=)
|
|
|
NM_001377.3(DYNC2H1):c.1296T>G (p.Thr432=)
|
|
|
NM_001377.3(DYNC2H1):c.132T>C (p.Asp44=)
|
|
|
NM_001377.3(DYNC2H1):c.1338A>C (p.Ala446=)
|
|
|
NM_001377.3(DYNC2H1):c.1338A>G (p.Ala446=)
|
|
|
NM_001377.3(DYNC2H1):c.1353A>G (p.Ser451=)
|
|
|
NM_001377.3(DYNC2H1):c.1353A>T (p.Ser451=)
|
|
|
NM_001377.3(DYNC2H1):c.1360+17T>C
|
|
|
NM_001377.3(DYNC2H1):c.1360+9T>G
|
|
|
NM_001377.3(DYNC2H1):c.1361-11A>C
|
|
|
NM_001377.3(DYNC2H1):c.1361-14T>C
|
|
|
NM_001377.3(DYNC2H1):c.1361-15A>G
|
|
|
NM_001377.3(DYNC2H1):c.1361-16G>A
|
|
|
NM_001377.3(DYNC2H1):c.1361-20A>G
|
|
|
NM_001377.3(DYNC2H1):c.1361-20A>T
|
|
|
NM_001377.3(DYNC2H1):c.1361-4A>G
|
|
|
NM_001377.3(DYNC2H1):c.1362T>C (p.Asp454=)
|
|
|
NM_001377.3(DYNC2H1):c.1371A>G (p.Leu457=)
|
|
|
NM_001377.3(DYNC2H1):c.1389C>T (p.Cys463=)
|
|
|
NM_001377.3(DYNC2H1):c.138C>T (p.Gly46=)
|
|
|
NM_001377.3(DYNC2H1):c.1398T>A (p.Ile466=)
|
|
|
NM_001377.3(DYNC2H1):c.1419A>T (p.Pro473=)
|
|
|
NM_001377.3(DYNC2H1):c.1425T>C (p.Ser475=)
|
|
|
NM_001377.3(DYNC2H1):c.1434T>C (p.Asn478=)
|
|
|
NM_001377.3(DYNC2H1):c.1440A>G (p.Ser480=)
|
|
|
NM_001377.3(DYNC2H1):c.1455T>C (p.Ser485=)
|
|
|
NM_001377.3(DYNC2H1):c.1459G>A (p.Val487Ile)
|
|
|
NM_001377.3(DYNC2H1):c.1461T>C (p.Val487=)
|
|
|
NM_001377.3(DYNC2H1):c.1485+20A>T
|
|
|
NM_001377.3(DYNC2H1):c.1485+7A>G
|
|
|
NM_001377.3(DYNC2H1):c.1486-16A>G
|
|
|
NM_001377.3(DYNC2H1):c.1486-17del
|
rs2134723666
|
|
NM_001377.3(DYNC2H1):c.1486-18G>A
|
|
|
NM_001377.3(DYNC2H1):c.1486-20C>G
|
rs191631635
|
|
NM_001377.3(DYNC2H1):c.1486-20C>T
|
|
|
NM_001377.3(DYNC2H1):c.150C>T (p.Leu50=)
|
|
|
NM_001377.3(DYNC2H1):c.1533A>G (p.Pro511=)
|
|
|
NM_001377.3(DYNC2H1):c.1536A>G (p.Gly512=)
|
rs1591273398
|
|
NM_001377.3(DYNC2H1):c.1545T>C (p.Cys515=)
|
|
|
NM_001377.3(DYNC2H1):c.1569C>T (p.Leu523=)
|
|
|
NM_001377.3(DYNC2H1):c.15T>C (p.Thr5=)
|
|
|
NM_001377.3(DYNC2H1):c.1611T>C (p.Asp537=)
|
|
|
NM_001377.3(DYNC2H1):c.1647C>T (p.Ser549=)
|
|
|
NM_001377.3(DYNC2H1):c.1649G>C (p.Arg550Thr)
|
|
|
NM_001377.3(DYNC2H1):c.1661+11A>G
|
|
|
NM_001377.3(DYNC2H1):c.1662-18A>G
|
|
|
NM_001377.3(DYNC2H1):c.1662-4A>G
|
|
|
NM_001377.3(DYNC2H1):c.1679G>A (p.Arg560Gln)
|
rs561232842
|
|
NM_001377.3(DYNC2H1):c.1679G>T (p.Arg560Leu)
|
rs561232842
|
|
NM_001377.3(DYNC2H1):c.1704T>C (p.Asp568=)
|
rs1456043930
|
|
NM_001377.3(DYNC2H1):c.1707A>G (p.Gly569=)
|
|
|
NM_001377.3(DYNC2H1):c.1716A>G (p.Lys572=)
|
|
|
NM_001377.3(DYNC2H1):c.172G>C (p.Ala58Pro)
|
|
|
NM_001377.3(DYNC2H1):c.1734T>C (p.Arg578=)
|
|
|
NM_001377.3(DYNC2H1):c.1747C>T (p.Leu583=)
|
|
|
NM_001377.3(DYNC2H1):c.1767C>G (p.Leu589=)
|
|
|
NM_001377.3(DYNC2H1):c.1770T>C (p.Ser590=)
|
|
|
NM_001377.3(DYNC2H1):c.1815C>T (p.Asn605=)
|
|
|
NM_001377.3(DYNC2H1):c.1827A>G (p.Lys609=)
|
|
|
NM_001377.3(DYNC2H1):c.183C>G (p.Ser61=)
|
rs1591248391
|
|
NM_001377.3(DYNC2H1):c.1857+13A>C
|
|
|
NM_001377.3(DYNC2H1):c.1857+13A>G
|
|
|
NM_001377.3(DYNC2H1):c.1857+14T>C
|
|
|
NM_001377.3(DYNC2H1):c.1857+14T>G
|
|
|
NM_001377.3(DYNC2H1):c.1857+20G>T
|
|
|
NM_001377.3(DYNC2H1):c.1858-14C>G
|
|
|
NM_001377.3(DYNC2H1):c.1858-4G>A
|
|
|
NM_001377.3(DYNC2H1):c.1918T>C (p.Leu640=)
|
|
|
NM_001377.3(DYNC2H1):c.1920A>G (p.Leu640=)
|
|
|
NM_001377.3(DYNC2H1):c.1935A>G (p.Ala645=)
|
|
|
NM_001377.3(DYNC2H1):c.195+12T>A
|
|
|
NM_001377.3(DYNC2H1):c.195+14C>T
|
|
|
NM_001377.3(DYNC2H1):c.195+16C>T
|
|
|
NM_001377.3(DYNC2H1):c.195+19C>T
|
|
|
NM_001377.3(DYNC2H1):c.195+7T>G
|
|
|
NM_001377.3(DYNC2H1):c.1953+16A>G
|
|
|
NM_001377.3(DYNC2H1):c.1953+7G>T
|
|
|
NM_001377.3(DYNC2H1):c.1953+8G>A
|
|
|
NM_001377.3(DYNC2H1):c.1953+9G>A
|
|
|
NM_001377.3(DYNC2H1):c.1953+9G>T
|
|
|
NM_001377.3(DYNC2H1):c.1954-17T>C
|
|
|
NM_001377.3(DYNC2H1):c.1954-19G>T
|
|
|
NM_001377.3(DYNC2H1):c.1954-20G>A
|
|
|
NM_001377.3(DYNC2H1):c.196-17A>G
|
|
|
NM_001377.3(DYNC2H1):c.196-5T>C
|
|
|
NM_001377.3(DYNC2H1):c.196-7A>C
|
|
|
NM_001377.3(DYNC2H1):c.196-9T>C
|
|
|
NM_001377.3(DYNC2H1):c.2010A>G (p.Glu670=)
|
|
|
NM_001377.3(DYNC2H1):c.2022T>C (p.Tyr674=)
|
|
|
NM_001377.3(DYNC2H1):c.2040T>C (p.Asn680=)
|
|
|
NM_001377.3(DYNC2H1):c.2043T>C (p.Ala681=)
|
|
|
NM_001377.3(DYNC2H1):c.2064A>G (p.Glu688=)
|
|
|
NM_001377.3(DYNC2H1):c.2074C>T (p.Leu692=)
|
|
|
NM_001377.3(DYNC2H1):c.2088C>T (p.His696=)
|
|
|
NM_001377.3(DYNC2H1):c.2094A>C (p.Thr698=)
|
|
|
NM_001377.3(DYNC2H1):c.2106+14A>T
|
|
|
NM_001377.3(DYNC2H1):c.2107-14C>T
|
|
|
NM_001377.3(DYNC2H1):c.2107-16C>T
|
|
|
NM_001377.3(DYNC2H1):c.2107-17G>A
|
|
|
NM_001377.3(DYNC2H1):c.2107-19A>G
|
|
|
NM_001377.3(DYNC2H1):c.2107-4A>T
|
|
|
NM_001377.3(DYNC2H1):c.2136T>C (p.Leu712=)
|
|
|
NM_001377.3(DYNC2H1):c.2163A>G (p.Gly721=)
|
|
|
NM_001377.3(DYNC2H1):c.2173T>C (p.Leu725=)
|
|
|
NM_001377.3(DYNC2H1):c.2178A>G (p.Arg726=)
|
|
|
NM_001377.3(DYNC2H1):c.2187A>G (p.Leu729=)
|
|
|
NM_001377.3(DYNC2H1):c.2196A>G (p.Val732=)
|
|
|
NM_001377.3(DYNC2H1):c.219T>C (p.Asp73=)
|
|
|
NM_001377.3(DYNC2H1):c.2205+10G>A
|
|
|
NM_001377.3(DYNC2H1):c.2205+11T>C
|
|
|
NM_001377.3(DYNC2H1):c.2205+7T>C
|
|
|
NM_001377.3(DYNC2H1):c.2206-16G>C
|
|
|
NM_001377.3(DYNC2H1):c.2206-18G>A
|
|
|
NM_001377.3(DYNC2H1):c.2206-19T>C
|
|
|
NM_001377.3(DYNC2H1):c.2217A>G (p.Ala739=)
|
|
|
NM_001377.3(DYNC2H1):c.2232A>G (p.Ala744=)
|
|
|
NM_001377.3(DYNC2H1):c.2232A>T (p.Ala744=)
|
|
|
NM_001377.3(DYNC2H1):c.2259G>A (p.Leu753=)
|
|
|
NM_001377.3(DYNC2H1):c.2269C>T (p.Leu757=)
|
|
|
NM_001377.3(DYNC2H1):c.2274G>A (p.Glu758=)
|
rs1373793996
|
|
NM_001377.3(DYNC2H1):c.2345+12T>A
|
rs2134780034
|
|
NM_001377.3(DYNC2H1):c.2345+17A>G
|
|
|
NM_001377.3(DYNC2H1):c.2345+18C>T
|
|
|
NM_001377.3(DYNC2H1):c.2345+9T>A
|
|
|
NM_001377.3(DYNC2H1):c.2346-19G>A
|
|
|
NM_001377.3(DYNC2H1):c.2355A>G (p.Arg785=)
|
|
|
NM_001377.3(DYNC2H1):c.2361A>G (p.Gln787=)
|
|
|
NM_001377.3(DYNC2H1):c.2367G>A (p.Arg789=)
|
|
|
NM_001377.3(DYNC2H1):c.2370C>T (p.Pro790=)
|
|
|
NM_001377.3(DYNC2H1):c.2385C>A (p.Ile795=)
|
|
|
NM_001377.3(DYNC2H1):c.2403A>G (p.Arg801=)
|
|
|
NM_001377.3(DYNC2H1):c.2436G>A (p.Gln812=)
|
|
|
NM_001377.3(DYNC2H1):c.2442G>A (p.Lys814=)
|
|
|
NM_001377.3(DYNC2H1):c.2466A>G (p.Glu822=)
|
|
|
NM_001377.3(DYNC2H1):c.2502T>C (p.Ser834=)
|
|
|
NM_001377.3(DYNC2H1):c.2509T>C (p.Leu837=)
|
|
|
NM_001377.3(DYNC2H1):c.2520C>T (p.Phe840=)
|
|
|
NM_001377.3(DYNC2H1):c.2527G>A (p.Ala843Thr)
|
rs548461924
|
|
NM_001377.3(DYNC2H1):c.2548T>C (p.Leu850=)
|
|
|
NM_001377.3(DYNC2H1):c.255A>G (p.Val85=)
|
|
|
NM_001377.3(DYNC2H1):c.2568A>G (p.Gln856=)
|
|
|
NM_001377.3(DYNC2H1):c.2574+17G>A
|
|
|
NM_001377.3(DYNC2H1):c.2574+7A>G
|
|
|
NM_001377.3(DYNC2H1):c.2575-11T>C
|
|
|
NM_001377.3(DYNC2H1):c.2575-14C>A
|
|
|
NM_001377.3(DYNC2H1):c.2575-18T>G
|
|
|
NM_001377.3(DYNC2H1):c.2575-6A>T
|
rs1357755464
|
|
NM_001377.3(DYNC2H1):c.2577A>G (p.Glu859=)
|
|
|
NM_001377.3(DYNC2H1):c.2583T>C (p.Ile861=)
|
|
|
NM_001377.3(DYNC2H1):c.2589T>C (p.Ile863=)
|
|
|
NM_001377.3(DYNC2H1):c.2592G>A (p.Gly864=)
|
|
|
NM_001377.3(DYNC2H1):c.2616G>A (p.Val872=)
|
|
|
NM_001377.3(DYNC2H1):c.2622G>A (p.Lys874=)
|
|
|
NM_001377.3(DYNC2H1):c.2652A>G (p.Lys884=)
|
|
|
NM_001377.3(DYNC2H1):c.2664A>C (p.Ala888=)
|
|
|
NM_001377.3(DYNC2H1):c.2664A>G (p.Ala888=)
|
|
|
NM_001377.3(DYNC2H1):c.2693G>A (p.Arg898Gln)
|
|
|
NM_001377.3(DYNC2H1):c.2702+12T>C
|
|
|
NM_001377.3(DYNC2H1):c.2702+15T>C
|
|
|
NM_001377.3(DYNC2H1):c.2702+16_2702+23del
|
|
|
NM_001377.3(DYNC2H1):c.2702+17T>A
|
|
|
NM_001377.3(DYNC2H1):c.2702+8A>C
|
|
|
NM_001377.3(DYNC2H1):c.2703-15A>G
|
|
|
NM_001377.3(DYNC2H1):c.2703-18T>C
|
|
|
NM_001377.3(DYNC2H1):c.2703-20T>C
|
|
|
NM_001377.3(DYNC2H1):c.2703-9A>G
|
|
|
NM_001377.3(DYNC2H1):c.270T>C (p.Asn90=)
|
|
|
NM_001377.3(DYNC2H1):c.2712G>A (p.Lys904=)
|
rs2134851598
|
|
NM_001377.3(DYNC2H1):c.2718T>C (p.Asp906=)
|
|
|
NM_001377.3(DYNC2H1):c.2721T>C (p.Cys907=)
|
|
|
NM_001377.3(DYNC2H1):c.2730T>C (p.Ile910=)
|
|
|
NM_001377.3(DYNC2H1):c.2739C>T (p.Asn913=)
|
|
|
NM_001377.3(DYNC2H1):c.2745G>C (p.Val915=)
|
|
|
NM_001377.3(DYNC2H1):c.2748G>A (p.Lys916=)
|
|
|
NM_001377.3(DYNC2H1):c.2778A>G (p.Leu926=)
|
|
|
NM_001377.3(DYNC2H1):c.2811C>A (p.Ser937=)
|
|
|
NM_001377.3(DYNC2H1):c.2818+10C>A
|
|
|
NM_001377.3(DYNC2H1):c.2818+10C>T
|
|
|
NM_001377.3(DYNC2H1):c.2818+11A>G
|
|
|
NM_001377.3(DYNC2H1):c.2818+17A>G
|
|
|
NM_001377.3(DYNC2H1):c.2818+7A>C
|
|
|
NM_001377.3(DYNC2H1):c.2818+8C>G
|
|
|
NM_001377.3(DYNC2H1):c.2819-10T>C
|
|
|
NM_001377.3(DYNC2H1):c.2819-14A>T
|
|
|
NM_001377.3(DYNC2H1):c.2819-20A>G
|
|
|
NM_001377.3(DYNC2H1):c.2819-8C>T
|
|
|
NM_001377.3(DYNC2H1):c.2820T>A (p.Ala940=)
|
|
|
NM_001377.3(DYNC2H1):c.2820T>C (p.Ala940=)
|
|
|
NM_001377.3(DYNC2H1):c.2841A>G (p.Thr947=)
|
|
|
NM_001377.3(DYNC2H1):c.2886T>C (p.Ser962=)
|
|
|
NM_001377.3(DYNC2H1):c.2913A>G (p.Leu971=)
|
|
|
NM_001377.3(DYNC2H1):c.2919T>C (p.Tyr973=)
|
|
|
NM_001377.3(DYNC2H1):c.2940G>A (p.Lys980=)
|
|
|
NM_001377.3(DYNC2H1):c.2946+10A>G
|
|
|
NM_001377.3(DYNC2H1):c.2946+15G>C
|
rs2134855865
|
|
NM_001377.3(DYNC2H1):c.2946+7A>C
|
|
|
NM_001377.3(DYNC2H1):c.2947-11T>C
|
|
|
NM_001377.3(DYNC2H1):c.2947-12_2947-11insC
|
|
|
NM_001377.3(DYNC2H1):c.2947-15T>C
|
|
|
NM_001377.3(DYNC2H1):c.2947-15_2947-14insGT
|
|
|
NM_001377.3(DYNC2H1):c.2947-16_2947-15insCT
|
|
|
NM_001377.3(DYNC2H1):c.2947-18_2947-17insG
|
|
|
NM_001377.3(DYNC2H1):c.2947-18_2947-17insGT
|
rs750641672
|
|
NM_001377.3(DYNC2H1):c.2947-19_2947-18insGT
|
|
|
NM_001377.3(DYNC2H1):c.2947-6C>T
|
|
|
NM_001377.3(DYNC2H1):c.2947-9A>T
|
|
|
NM_001377.3(DYNC2H1):c.2955C>T (p.Pro985=)
|
|
|
NM_001377.3(DYNC2H1):c.2985A>G (p.Arg995=)
|
|
|
NM_001377.3(DYNC2H1):c.3024T>A (p.Ile1008=)
|
|
|
NM_001377.3(DYNC2H1):c.3024T>C (p.Ile1008=)
|
|
|
NM_001377.3(DYNC2H1):c.3036A>G (p.Lys1012=)
|
|
|
NM_001377.3(DYNC2H1):c.3042G>A (p.Lys1014=)
|
|
|
NM_001377.3(DYNC2H1):c.3051A>G (p.Lys1017=)
|
rs1249528182
|
|
NM_001377.3(DYNC2H1):c.3075C>T (p.His1025=)
|
|
|
NM_001377.3(DYNC2H1):c.3093C>T (p.Asp1031=)
|
|
|
NM_001377.3(DYNC2H1):c.3096+11T>C
|
|
|
NM_001377.3(DYNC2H1):c.3096+16T>C
|
|
|
NM_001377.3(DYNC2H1):c.3096+7A>G
|
|
|
NM_001377.3(DYNC2H1):c.3096+8T>A
|
|
|
NM_001377.3(DYNC2H1):c.3097-13T>C
|
|
|
NM_001377.3(DYNC2H1):c.3097-14T>C
|
|
|
NM_001377.3(DYNC2H1):c.3097-18A>T
|
|
|
NM_001377.3(DYNC2H1):c.3097-7C>A
|
|
|
NM_001377.3(DYNC2H1):c.3097-9G>C
|
|
|
NM_001377.3(DYNC2H1):c.3114A>G (p.Gly1038=)
|
|
|
NM_001377.3(DYNC2H1):c.3117T>C (p.Asn1039=)
|
|
|
NM_001377.3(DYNC2H1):c.3123A>G (p.Lys1041=)
|
|
|
NM_001377.3(DYNC2H1):c.3126A>G (p.Ser1042=)
|
|
|
NM_001377.3(DYNC2H1):c.3144T>C (p.Tyr1048=)
|
|
|
NM_001377.3(DYNC2H1):c.315T>A (p.Ile105=)
|
|
|
NM_001377.3(DYNC2H1):c.3165A>G (p.Lys1055=)
|
|
|
NM_001377.3(DYNC2H1):c.3169C>T (p.Arg1057Cys)
|
|
|
NM_001377.3(DYNC2H1):c.3180A>G (p.Gln1060=)
|
|
|
NM_001377.3(DYNC2H1):c.3192T>G (p.Gly1064=)
|
|
|
NM_001377.3(DYNC2H1):c.3195T>C (p.Asp1065=)
|
|
|
NM_001377.3(DYNC2H1):c.3213C>T (p.Gly1071=)
|
|
|
NM_001377.3(DYNC2H1):c.3225T>C (p.Thr1075=)
|
|
|
NM_001377.3(DYNC2H1):c.3240A>G (p.Ala1080=)
|
|
|
NM_001377.3(DYNC2H1):c.324T>G (p.Leu108=)
|
|
|
NM_001377.3(DYNC2H1):c.3258A>G (p.Lys1086=)
|
|
|
NM_001377.3(DYNC2H1):c.3276T>C (p.Asp1092=)
|
|
|
NM_001377.3(DYNC2H1):c.3300G>T (p.Leu1100=)
|
|
|
NM_001377.3(DYNC2H1):c.3302+20T>C
|
|
|
NM_001377.3(DYNC2H1):c.3302+7T>G
|
|
|
NM_001377.3(DYNC2H1):c.3302+8T>C
|
|
|
NM_001377.3(DYNC2H1):c.3303-12T>G
|
|
|
NM_001377.3(DYNC2H1):c.3303-17A>C
|
|
|
NM_001377.3(DYNC2H1):c.3303-244_3303-16del
|
|
|
NM_001377.3(DYNC2H1):c.3303-4A>C
|
|
|
NM_001377.3(DYNC2H1):c.3303-4A>G
|
|
|
NM_001377.3(DYNC2H1):c.3303-5T>C
|
|
|
NM_001377.3(DYNC2H1):c.3315T>C (p.His1105=)
|
|
|
NM_001377.3(DYNC2H1):c.3321T>C (p.Phe1107=)
|
rs1182325179
|
|
NM_001377.3(DYNC2H1):c.3360C>T (p.Ile1120=)
|
|
|
NM_001377.3(DYNC2H1):c.336A>G (p.Val112=)
|
|
|
NM_001377.3(DYNC2H1):c.3384C>T (p.Ala1128=)
|
|
|
NM_001377.3(DYNC2H1):c.3387A>G (p.Gln1129=)
|
|
|
NM_001377.3(DYNC2H1):c.3396C>A (p.Ala1132=)
|
|
|
NM_001377.3(DYNC2H1):c.3402T>C (p.Tyr1134=)
|
rs539131390
|
|
NM_001377.3(DYNC2H1):c.3408G>A (p.Glu1136=)
|
|
|
NM_001377.3(DYNC2H1):c.3414A>G (p.Gln1138=)
|
|
|
NM_001377.3(DYNC2H1):c.342A>G (p.Gln114=)
|
|
|
NM_001377.3(DYNC2H1):c.3450C>T (p.Ile1150=)
|
|
|
NM_001377.3(DYNC2H1):c.3458+11A>C
|
|
|
NM_001377.3(DYNC2H1):c.3458+11A>G
|
|
|
NM_001377.3(DYNC2H1):c.3458+17A>G
|
|
|
NM_001377.3(DYNC2H1):c.3459-11G>A
|
|
|
NM_001377.3(DYNC2H1):c.3459-12G>T
|
|
|
NM_001377.3(DYNC2H1):c.3459-13T>C
|
|
|
NM_001377.3(DYNC2H1):c.3459-17T>A
|
|
|
NM_001377.3(DYNC2H1):c.3459-18G>A
|
|
|
NM_001377.3(DYNC2H1):c.3459-19T>G
|
|
|
NM_001377.3(DYNC2H1):c.3474G>C (p.Leu1158=)
|
|
|
NM_001377.3(DYNC2H1):c.3486T>C (p.Phe1162=)
|
|
|
NM_001377.3(DYNC2H1):c.3487T>C (p.Leu1163=)
|
|
|
NM_001377.3(DYNC2H1):c.3516G>A (p.Lys1172=)
|
|
|
NM_001377.3(DYNC2H1):c.3525A>G (p.Glu1175=)
|
|
|
NM_001377.3(DYNC2H1):c.3546A>G (p.Lys1182=)
|
|
|
NM_001377.3(DYNC2H1):c.3549A>G (p.Leu1183=)
|
|
|
NM_001377.3(DYNC2H1):c.354A>G (p.Pro118=)
|
|
|
NM_001377.3(DYNC2H1):c.3558G>A (p.Glu1186=)
|
|
|
NM_001377.3(DYNC2H1):c.3564C>T (p.Asp1188=)
|
|
|
NM_001377.3(DYNC2H1):c.3573+19T>C
|
|
|
NM_001377.3(DYNC2H1):c.3573+8T>A
|
|
|
NM_001377.3(DYNC2H1):c.3573+9G>T
|
|
|
NM_001377.3(DYNC2H1):c.3574-14T>C
|
rs1591328952
|
|
NM_001377.3(DYNC2H1):c.3574-17T>C
|
|
|
NM_001377.3(DYNC2H1):c.3574-19T>A
|
|
|
NM_001377.3(DYNC2H1):c.3574-19T>C
|
|
|
NM_001377.3(DYNC2H1):c.3574-19T>G
|
|
|
NM_001377.3(DYNC2H1):c.3574-20C>A
|
|
|
NM_001377.3(DYNC2H1):c.3574-20del
|
|
|
NM_001377.3(DYNC2H1):c.3576C>A (p.Ile1192=)
|
|
|
NM_001377.3(DYNC2H1):c.3576C>T (p.Ile1192=)
|
|
|
NM_001377.3(DYNC2H1):c.3600G>C (p.Val1200=)
|
|
|
NM_001377.3(DYNC2H1):c.3601A>C (p.Arg1201=)
|
|
|
NM_001377.3(DYNC2H1):c.3609G>A (p.Glu1203=)
|
|
|
NM_001377.3(DYNC2H1):c.360G>A (p.Leu120=)
|
|
|
NM_001377.3(DYNC2H1):c.3624T>C (p.Asp1208=)
|
|
|
NM_001377.3(DYNC2H1):c.366+16G>A
|
|
|
NM_001377.3(DYNC2H1):c.366+18C>T
|
|
|
NM_001377.3(DYNC2H1):c.366+19A>G
|
rs1169526058
|
|
NM_001377.3(DYNC2H1):c.366+8A>C
|
|
|
NM_001377.3(DYNC2H1):c.3666G>A (p.Gly1222=)
|
|
|
NM_001377.3(DYNC2H1):c.3666G>T (p.Gly1222=)
|
|
|
NM_001377.3(DYNC2H1):c.367-11T>C
|
|
|
NM_001377.3(DYNC2H1):c.367-14C>T
|
|
|
NM_001377.3(DYNC2H1):c.367-5T>C
|
|
|
NM_001377.3(DYNC2H1):c.3684A>G (p.Leu1228=)
|
|
|
NM_001377.3(DYNC2H1):c.3690T>C (p.Phe1230=)
|
|
|
NM_001377.3(DYNC2H1):c.3693T>G (p.Gly1231=)
|
|
|
NM_001377.3(DYNC2H1):c.3702C>G (p.Leu1234=)
|
|
|
NM_001377.3(DYNC2H1):c.3705A>G (p.Arg1235=)
|
|
|
NM_001377.3(DYNC2H1):c.3717A>T (p.Thr1239=)
|
|
|
NM_001377.3(DYNC2H1):c.372G>A (p.Gln124=)
|
|
|
NM_001377.3(DYNC2H1):c.3738C>T (p.Asp1246=)
|
|
|
NM_001377.3(DYNC2H1):c.3744+10A>C
|
|
|
NM_001377.3(DYNC2H1):c.3744+10A>G
|
|
|
NM_001377.3(DYNC2H1):c.3744+9C>A
|
|
|
NM_001377.3(DYNC2H1):c.3744+9C>G
|
|
|
NM_001377.3(DYNC2H1):c.3745-10T>C
|
|
|
NM_001377.3(DYNC2H1):c.3745-18A>T
|
|
|
NM_001377.3(DYNC2H1):c.3745-19G>A
|
|
|
NM_001377.3(DYNC2H1):c.3745-19G>T
|
|
|
NM_001377.3(DYNC2H1):c.3745-7T>A
|
|
|
NM_001377.3(DYNC2H1):c.3750A>G (p.Leu1250=)
|
|
|
NM_001377.3(DYNC2H1):c.3759G>C (p.Arg1253=)
|
|
|
NM_001377.3(DYNC2H1):c.375A>G (p.Glu125=)
|
|
|
NM_001377.3(DYNC2H1):c.3794G>A (p.Arg1265His)
|
rs200635842
|
|
NM_001377.3(DYNC2H1):c.3794G>T (p.Arg1265Leu)
|
rs200635842
|
|
NM_001377.3(DYNC2H1):c.3801T>C (p.Leu1267=)
|
|
|
NM_001377.3(DYNC2H1):c.3807T>G (p.Leu1269=)
|
|
|
NM_001377.3(DYNC2H1):c.3834A>G (p.Leu1278=)
|
|
|
NM_001377.3(DYNC2H1):c.3843T>C (p.Tyr1281=)
|
|
|
NM_001377.3(DYNC2H1):c.3849C>T (p.Asp1283=)
|
|
|
NM_001377.3(DYNC2H1):c.384A>G (p.Arg128=)
|
|
|
NM_001377.3(DYNC2H1):c.3852C>T (p.Ser1284=)
|
|
|
NM_001377.3(DYNC2H1):c.3861A>G (p.Arg1287=)
|
|
|
NM_001377.3(DYNC2H1):c.3879A>G (p.Lys1293=)
|
|
|
NM_001377.3(DYNC2H1):c.3912T>C (p.Asp1304=)
|
|
|
NM_001377.3(DYNC2H1):c.3916A>C (p.Arg1306=)
|
|
|
NM_001377.3(DYNC2H1):c.3927C>T (p.Leu1309=)
|
rs1471816789
|
|
NM_001377.3(DYNC2H1):c.3930A>G (p.Gln1310=)
|
|
|
NM_001377.3(DYNC2H1):c.3939G>A (p.Lys1313=)
|
|
|
NM_001377.3(DYNC2H1):c.3951T>C (p.Tyr1317=)
|
|
|
NM_001377.3(DYNC2H1):c.4008T>C (p.Asp1336=)
|
|
|
NM_001377.3(DYNC2H1):c.4017G>A (p.Leu1339=)
|
|
|
NM_001377.3(DYNC2H1):c.4044G>A (p.Lys1348=)
|
|
|
NM_001377.3(DYNC2H1):c.4050G>A (p.Val1350=)
|
|
|
NM_001377.3(DYNC2H1):c.4081T>C (p.Leu1361=)
|
|
|
NM_001377.3(DYNC2H1):c.4086A>G (p.Pro1362=)
|
|
|
NM_001377.3(DYNC2H1):c.408T>C (p.Asn136=)
|
|
|
NM_001377.3(DYNC2H1):c.4098A>C (p.Thr1366=)
|
|
|
NM_001377.3(DYNC2H1):c.4101C>T (p.Arg1367=)
|
|
|
NM_001377.3(DYNC2H1):c.4119A>G (p.Glu1373=)
|
|
|
NM_001377.3(DYNC2H1):c.4125T>C (p.Phe1375=)
|
|
|
NM_001377.3(DYNC2H1):c.4127+15G>A
|
|
|
NM_001377.3(DYNC2H1):c.4127+17A>G
|
|
|
NM_001377.3(DYNC2H1):c.4127+17A>T
|
|
|
NM_001377.3(DYNC2H1):c.4127+9A>G
|
|
|
NM_001377.3(DYNC2H1):c.4128-14T>A
|
|
|
NM_001377.3(DYNC2H1):c.4128-14T>C
|
|
|
NM_001377.3(DYNC2H1):c.4128-18C>T
|
|
|
NM_001377.3(DYNC2H1):c.4128-19A>C
|
|
|
NM_001377.3(DYNC2H1):c.4128-19A>G
|
|
|
NM_001377.3(DYNC2H1):c.4131A>G (p.Ser1377=)
|
|
|
NM_001377.3(DYNC2H1):c.4146C>A (p.Ile1382=)
|
|
|
NM_001377.3(DYNC2H1):c.4155C>T (p.Asp1385=)
|
|
|
NM_001377.3(DYNC2H1):c.4164C>T (p.Val1388=)
|
|
|
NM_001377.3(DYNC2H1):c.4179T>A (p.Thr1393=)
|
|
|
NM_001377.3(DYNC2H1):c.4215T>G (p.Leu1405=)
|
|
|
NM_001377.3(DYNC2H1):c.4238_4239delinsGG (p.Lys1413Arg)
|
|
|
NM_001377.3(DYNC2H1):c.423A>G (p.Leu141=)
|
|
|
NM_001377.3(DYNC2H1):c.4248T>C (p.Asn1416=)
|
|
|
NM_001377.3(DYNC2H1):c.4257G>A (p.Leu1419=)
|
|
|
NM_001377.3(DYNC2H1):c.4260+11T>C
|
|
|
NM_001377.3(DYNC2H1):c.4260+15A>G
|
|
|
NM_001377.3(DYNC2H1):c.4261-11A>C
|
|
|
NM_001377.3(DYNC2H1):c.4261-18T>C
|
|
|
NM_001377.3(DYNC2H1):c.4261-6T>G
|
|
|
NM_001377.3(DYNC2H1):c.4266A>G (p.Lys1422=)
|
|
|
NM_001377.3(DYNC2H1):c.4281A>T (p.Pro1427=)
|
|
|
NM_001377.3(DYNC2H1):c.4302T>C (p.Asp1434=)
|
|
|
NM_001377.3(DYNC2H1):c.4314A>G (p.Leu1438=)
|
|
|
NM_001377.3(DYNC2H1):c.4326C>G (p.Gly1442=)
|
|
|
NM_001377.3(DYNC2H1):c.4329G>A (p.Gln1443=)
|
rs1860964045
|
|
NM_001377.3(DYNC2H1):c.433T>C (p.Leu145=)
|
|
|
NM_001377.3(DYNC2H1):c.435G>A (p.Leu145=)
|
|
|
NM_001377.3(DYNC2H1):c.4378+14T>C
|
|
|
NM_001377.3(DYNC2H1):c.4378+15T>A
|
|
|
NM_001377.3(DYNC2H1):c.4378+7T>A
|
|
|
NM_001377.3(DYNC2H1):c.4378+9C>G
|
|
|
NM_001377.3(DYNC2H1):c.4379-13T>C
|
|
|
NM_001377.3(DYNC2H1):c.4379-16T>C
|
|
|
NM_001377.3(DYNC2H1):c.4379-18A>T
|
|
|
NM_001377.3(DYNC2H1):c.4379-5T>A
|
|
|
NM_001377.3(DYNC2H1):c.438T>G (p.Gly146=)
|
|
|
NM_001377.3(DYNC2H1):c.4395C>T (p.Cys1465=)
|
|
|
NM_001377.3(DYNC2H1):c.4413A>G (p.Lys1471=)
|
|
|
NM_001377.3(DYNC2H1):c.4419A>T (p.Ile1473=)
|
|
|
NM_001377.3(DYNC2H1):c.4431A>G (p.Lys1477=)
|
|
|
NM_001377.3(DYNC2H1):c.4449T>G (p.Val1483=)
|
|
|
NM_001377.3(DYNC2H1):c.4452A>G (p.Val1484=)
|
|
|
NM_001377.3(DYNC2H1):c.4452A>T (p.Val1484=)
|
|
|
NM_001377.3(DYNC2H1):c.4485T>C (p.Asn1495=)
|
|
|
NM_001377.3(DYNC2H1):c.4491+14T>A
|
|
|
NM_001377.3(DYNC2H1):c.4491+16T>C
|
|
|
NM_001377.3(DYNC2H1):c.4491+8A>C
|
|
|
NM_001377.3(DYNC2H1):c.4500G>A (p.Leu1500=)
|
|
|
NM_001377.3(DYNC2H1):c.4512C>T (p.Ala1504=)
|
|
|
NM_001377.3(DYNC2H1):c.4542G>A (p.Leu1514=)
|
|
|
NM_001377.3(DYNC2H1):c.4545G>A (p.Leu1515=)
|
|
|
NM_001377.3(DYNC2H1):c.4557T>C (p.Val1519=)
|
|
|
NM_001377.3(DYNC2H1):c.4563T>C (p.Thr1521=)
|
|
|
NM_001377.3(DYNC2H1):c.456A>G (p.Ser152=)
|
|
|
NM_001377.3(DYNC2H1):c.4596T>C (p.Ser1532=)
|
|
|
NM_001377.3(DYNC2H1):c.459C>T (p.Asp153=)
|
|
|
NM_001377.3(DYNC2H1):c.45T>C (p.Thr15=)
|
|
|
NM_001377.3(DYNC2H1):c.4605T>C (p.Pro1535=)
|
|
|
NM_001377.3(DYNC2H1):c.4611+14C>A
|
|
|
NM_001377.3(DYNC2H1):c.4611+15G>T
|
|
|
NM_001377.3(DYNC2H1):c.4612-10T>C
|
|
|
NM_001377.3(DYNC2H1):c.4612-10del
|
|
|
NM_001377.3(DYNC2H1):c.4612-12T>C
|
|
|
NM_001377.3(DYNC2H1):c.4612-16T>C
|
|
|
NM_001377.3(DYNC2H1):c.4612-5A>G
|
rs2134944031
|
|
NM_001377.3(DYNC2H1):c.4626G>A (p.Ala1542=)
|
|
|
NM_001377.3(DYNC2H1):c.4629G>A (p.Glu1543=)
|
|
|
NM_001377.3(DYNC2H1):c.4638A>G (p.Lys1546=)
|
|
|
NM_001377.3(DYNC2H1):c.4641C>T (p.Phe1547=)
|
|
|
NM_001377.3(DYNC2H1):c.4695A>T (p.Thr1565=)
|
|
|
NM_001377.3(DYNC2H1):c.4701G>A (p.Leu1567=)
|
|
|
NM_001377.3(DYNC2H1):c.4702G>T (p.Val1568Leu)
|
|
|
NM_001377.3(DYNC2H1):c.4716G>A (p.Glu1572=)
|
|
|
NM_001377.3(DYNC2H1):c.4728C>T (p.Asn1576=)
|
rs72989738
|
|
NM_001377.3(DYNC2H1):c.4743T>G (p.Ser1581=)
|
|
|
NM_001377.3(DYNC2H1):c.4755G>A (p.Gly1585=)
|
|
|
NM_001377.3(DYNC2H1):c.4762+17C>A
|
|
|
NM_001377.3(DYNC2H1):c.4762+9A>G
|
|
|
NM_001377.3(DYNC2H1):c.4763-16T>C
|
|
|
NM_001377.3(DYNC2H1):c.4794C>T (p.Ala1598=)
|
|
|
NM_001377.3(DYNC2H1):c.4806C>T (p.Asp1602=)
|
|
|
NM_001377.3(DYNC2H1):c.4818T>C (p.Asn1606=)
|
|
|
NM_001377.3(DYNC2H1):c.4833G>A (p.Lys1611=)
|
|
|
NM_001377.3(DYNC2H1):c.4836G>A (p.Gln1612=)
|
rs1353156483
|
|
NM_001377.3(DYNC2H1):c.4845A>G (p.Gln1615=)
|
|
|
NM_001377.3(DYNC2H1):c.4857T>C (p.His1619=)
|
|
|
NM_001377.3(DYNC2H1):c.4893A>G (p.Arg1631=)
|
|
|
NM_001377.3(DYNC2H1):c.489A>G (p.Glu163=)
|
|
|
NM_001377.3(DYNC2H1):c.4917A>G (p.Thr1639=)
|
|
|
NM_001377.3(DYNC2H1):c.4941T>G (p.Ser1647=)
|
rs981069530
|
|
NM_001377.3(DYNC2H1):c.495C>T (p.Asp165=)
|
|
|
NM_001377.3(DYNC2H1):c.4968+12G>A
|
|
|
NM_001377.3(DYNC2H1):c.4968+8T>G
|
|
|
NM_001377.3(DYNC2H1):c.4969-6G>A
|
|
|
NM_001377.3(DYNC2H1):c.4971T>A (p.Gly1657=)
|
|
|
NM_001377.3(DYNC2H1):c.4977T>G (p.Ala1659=)
|
|
|
NM_001377.3(DYNC2H1):c.4992T>C (p.Tyr1664=)
|
|
|
NM_001377.3(DYNC2H1):c.499C>A (p.Arg167=)
|
|
|
NM_001377.3(DYNC2H1):c.502+11A>G
|
|
|
NM_001377.3(DYNC2H1):c.502+13A>T
|
|
|
NM_001377.3(DYNC2H1):c.502+20T>A
|
|
|
NM_001377.3(DYNC2H1):c.502+9C>T
|
|
|
NM_001377.3(DYNC2H1):c.503-14C>G
|
|
|
NM_001377.3(DYNC2H1):c.503-17C>T
|
|
|
NM_001377.3(DYNC2H1):c.503-18C>T
|
|
|
NM_001377.3(DYNC2H1):c.503-19C>T
|
|
|
NM_001377.3(DYNC2H1):c.503-20T>C
|
|
|
NM_001377.3(DYNC2H1):c.5058T>C (p.Asn1686=)
|
|
|
NM_001377.3(DYNC2H1):c.5064T>C (p.Tyr1688=)
|
|
|
NM_001377.3(DYNC2H1):c.5122A>C (p.Arg1708=)
|
|
|
NM_001377.3(DYNC2H1):c.5151+12A>C
|
|
|
NM_001377.3(DYNC2H1):c.5151+13A>T
|
|
|
NM_001377.3(DYNC2H1):c.5151+18C>G
|
|
|
NM_001377.3(DYNC2H1):c.5151+7T>C
|
|
|
NM_001377.3(DYNC2H1):c.5152-15_5152-13del
|
|
|
NM_001377.3(DYNC2H1):c.5152-16T>C
|
|
|
NM_001377.3(DYNC2H1):c.5152-9G>T
|
|
|
NM_001377.3(DYNC2H1):c.5157C>T (p.Ile1719=)
|
|
|
NM_001377.3(DYNC2H1):c.5166G>A (p.Lys1722=)
|
|
|
NM_001377.3(DYNC2H1):c.5178A>C (p.Arg1726=)
|
rs376307935
|
|
NM_001377.3(DYNC2H1):c.5178A>G (p.Arg1726=)
|
|
|
NM_001377.3(DYNC2H1):c.5199G>A (p.Lys1733=)
|
|
|
NM_001377.3(DYNC2H1):c.51C>A (p.Thr17=)
|
|
|
NM_001377.3(DYNC2H1):c.5226A>G (p.Glu1742=)
|
|
|
NM_001377.3(DYNC2H1):c.5241A>G (p.Glu1747=)
|
|
|
NM_001377.3(DYNC2H1):c.5250A>G (p.Val1750=)
|
|
|
NM_001377.3(DYNC2H1):c.5250A>T (p.Val1750=)
|
|
|
NM_001377.3(DYNC2H1):c.5253G>T (p.Leu1751=)
|
|
|
NM_001377.3(DYNC2H1):c.5256A>G (p.Ser1752=)
|
|
|
NM_001377.3(DYNC2H1):c.525G>A (p.Glu175=)
|
|
|
NM_001377.3(DYNC2H1):c.5262T>C (p.Val1754=)
|
|
|
NM_001377.3(DYNC2H1):c.5271A>G (p.Gln1757=)
|
|
|
NM_001377.3(DYNC2H1):c.5280A>T (p.Thr1760=)
|
|
|
NM_001377.3(DYNC2H1):c.5310T>C (p.Thr1770=)
|
|
|
NM_001377.3(DYNC2H1):c.5331G>A (p.Lys1777=)
|
|
|
NM_001377.3(DYNC2H1):c.5334+15G>T
|
|
|
NM_001377.3(DYNC2H1):c.5334+16G>A
|
|
|
NM_001377.3(DYNC2H1):c.5334+17G>C
|
|
|
NM_001377.3(DYNC2H1):c.5334+17del
|
|
|
NM_001377.3(DYNC2H1):c.5334+7A>G
|
|
|
NM_001377.3(DYNC2H1):c.5335-11_5335-8del
|
|
|
NM_001377.3(DYNC2H1):c.5379T>C (p.Pro1793=)
|
|
|
NM_001377.3(DYNC2H1):c.5382T>C (p.Ala1794=)
|
|
|
NM_001377.3(DYNC2H1):c.5391T>A (p.Gly1797=)
|
|
|
NM_001377.3(DYNC2H1):c.5415T>C (p.Pro1805=)
|
|
|
NM_001377.3(DYNC2H1):c.5469G>A (p.Glu1823=)
|
|
|
NM_001377.3(DYNC2H1):c.5493T>C (p.Tyr1831=)
|
|
|
NM_001377.3(DYNC2H1):c.5520A>G (p.Val1840=)
|
|
|
NM_001377.3(DYNC2H1):c.5521T>C (p.Leu1841=)
|
|
|
NM_001377.3(DYNC2H1):c.554G>A (p.Arg185His)
|
rs199960819
|
|
NM_001377.3(DYNC2H1):c.5553A>G (p.Leu1851=)
|
|
|
NM_001377.3(DYNC2H1):c.5558+10C>T
|
|
|
NM_001377.3(DYNC2H1):c.5558+13G>C
|
|
|
NM_001377.3(DYNC2H1):c.5558+16C>G
|
|
|
NM_001377.3(DYNC2H1):c.5558+16C>T
|
|
|
NM_001377.3(DYNC2H1):c.5559-13G>A
|
|
|
NM_001377.3(DYNC2H1):c.5559-19T>C
|
|
|
NM_001377.3(DYNC2H1):c.5559-7A>G
|
|
|
NM_001377.3(DYNC2H1):c.5559-9C>G
|
|
|
NM_001377.3(DYNC2H1):c.5571A>C (p.Thr1857=)
|
|
|
NM_001377.3(DYNC2H1):c.5586T>C (p.Tyr1862=)
|
|
|
NM_001377.3(DYNC2H1):c.558A>G (p.Gly186=)
|
|
|
NM_001377.3(DYNC2H1):c.5610G>A (p.Lys1870=)
|
|
|
NM_001377.3(DYNC2H1):c.5613A>G (p.Thr1871=)
|
|
|
NM_001377.3(DYNC2H1):c.5628T>C (p.Ser1876=)
|
rs1329413988
|
|
NM_001377.3(DYNC2H1):c.5631A>G (p.Gly1877=)
|
|
|
NM_001377.3(DYNC2H1):c.564A>G (p.Lys188=)
|
rs2134689429
|
|
NM_001377.3(DYNC2H1):c.5674+11T>C
|
|
|
NM_001377.3(DYNC2H1):c.5674+7T>C
|
|
|
NM_001377.3(DYNC2H1):c.5675-10T>G
|
|
|
NM_001377.3(DYNC2H1):c.5675-14A>C
|
|
|
NM_001377.3(DYNC2H1):c.5675-18A>C
|
|
|
NM_001377.3(DYNC2H1):c.5675-20A>G
|
|
|
NM_001377.3(DYNC2H1):c.5675-20A>T
|
|
|
NM_001377.3(DYNC2H1):c.5675-5del
|
|
|
NM_001377.3(DYNC2H1):c.5675-6_5675-5del
|
|
|
NM_001377.3(DYNC2H1):c.5675-7T>G
|
|
|
NM_001377.3(DYNC2H1):c.5679T>C (p.Asn1893=)
|
|
|
NM_001377.3(DYNC2H1):c.5685T>C (p.Ser1895=)
|
|
|
NM_001377.3(DYNC2H1):c.5688T>C (p.His1896=)
|
|
|
NM_001377.3(DYNC2H1):c.5718C>G (p.Thr1906=)
|
|
|
NM_001377.3(DYNC2H1):c.5724A>G (p.Ser1908=)
|
|
|
NM_001377.3(DYNC2H1):c.5733G>A (p.Thr1911=)
|
|
|
NM_001377.3(DYNC2H1):c.5733G>C (p.Thr1911=)
|
|
|
NM_001377.3(DYNC2H1):c.5739T>C (p.Thr1913=)
|
|
|
NM_001377.3(DYNC2H1):c.5757T>C (p.Asp1919=)
|
|
|
NM_001377.3(DYNC2H1):c.5791T>C (p.Leu1931=)
|
|
|
NM_001377.3(DYNC2H1):c.5793G>A (p.Leu1931=)
|
|
|
NM_001377.3(DYNC2H1):c.5820T>C (p.Ser1940=)
|
|
|
NM_001377.3(DYNC2H1):c.5826A>G (p.Ala1942=)
|
|
|
NM_001377.3(DYNC2H1):c.5838C>T (p.Val1946=)
|
|
|
NM_001377.3(DYNC2H1):c.5847G>A (p.Glu1949=)
|
|
|
NM_001377.3(DYNC2H1):c.5850C>T (p.Ala1950=)
|
|
|
NM_001377.3(DYNC2H1):c.585C>T (p.Ala195=)
|
rs1858326731
|
|
NM_001377.3(DYNC2H1):c.5874+7G>T
|
rs1405066753
|
|
NM_001377.3(DYNC2H1):c.5874+9C>A
|
|
|
NM_001377.3(DYNC2H1):c.5875-16A>T
|
|
|
NM_001377.3(DYNC2H1):c.5875-20A>G
|
|
|
NM_001377.3(DYNC2H1):c.5875-20A>T
|
rs532424006
|
|
NM_001377.3(DYNC2H1):c.5875-5A>T
|
|
|
NM_001377.3(DYNC2H1):c.5875-6T>C
|
|
|
NM_001377.3(DYNC2H1):c.5913G>A (p.Gln1971=)
|
|
|
NM_001377.3(DYNC2H1):c.591T>C (p.Tyr197=)
|
|
|
NM_001377.3(DYNC2H1):c.5922A>T (p.Gly1974=)
|
|
|
NM_001377.3(DYNC2H1):c.5934T>C (p.Val1978=)
|
|
|
NM_001377.3(DYNC2H1):c.5943T>C (p.Ser1981=)
|
|
|
NM_001377.3(DYNC2H1):c.5961G>A (p.Thr1987=)
|
|
|
NM_001377.3(DYNC2H1):c.5985G>A (p.Ala1995=)
|
|
|
NM_001377.3(DYNC2H1):c.6012A>G (p.Lys2004=)
|
|
|
NM_001377.3(DYNC2H1):c.603A>G (p.Leu201=)
|
|
|
NM_001377.3(DYNC2H1):c.6042T>C (p.Pro2014=)
|
|
|
NM_001377.3(DYNC2H1):c.6069C>T (p.Asp2023=)
|
|
|
NM_001377.3(DYNC2H1):c.6084A>G (p.Glu2028=)
|
|
|
NM_001377.3(DYNC2H1):c.6093T>C (p.Asp2031=)
|
|
|
NM_001377.3(DYNC2H1):c.60C>T (p.Tyr20=)
|
|
|
NM_001377.3(DYNC2H1):c.6105A>T (p.Thr2035=)
|
|
|
NM_001377.3(DYNC2H1):c.6111T>C (p.Ser2037=)
|
|
|
NM_001377.3(DYNC2H1):c.6120A>G (p.Gln2040=)
|
|
|
NM_001377.3(DYNC2H1):c.6139+12T>G
|
|
|
NM_001377.3(DYNC2H1):c.6139+19T>C
|
|
|
NM_001377.3(DYNC2H1):c.6144C>T (p.Val2048=)
|
|
|
NM_001377.3(DYNC2H1):c.6147C>T (p.Ser2049=)
|
|
|
NM_001377.3(DYNC2H1):c.6150A>C (p.Ser2050=)
|
|
|
NM_001377.3(DYNC2H1):c.6183A>G (p.Glu2061=)
|
|
|
NM_001377.3(DYNC2H1):c.6207T>C (p.Val2069=)
|
|
|
NM_001377.3(DYNC2H1):c.6208C>T (p.Leu2070=)
|
|
|
NM_001377.3(DYNC2H1):c.622-19T>G
|
|
|
NM_001377.3(DYNC2H1):c.622-4C>A
|
|
|
NM_001377.3(DYNC2H1):c.622-8T>G
|
|
|
NM_001377.3(DYNC2H1):c.6228G>A (p.Leu2076=)
|
|
|
NM_001377.3(DYNC2H1):c.624G>A (p.Glu208=)
|
|
|
NM_001377.3(DYNC2H1):c.6255G>A (p.Gln2085=)
|
|
|
NM_001377.3(DYNC2H1):c.6264A>G (p.Pro2088=)
|
|
|
NM_001377.3(DYNC2H1):c.6267T>C (p.Asn2089=)
|
rs757263822
|
|
NM_001377.3(DYNC2H1):c.6273C>T (p.Asn2091=)
|
|
|
NM_001377.3(DYNC2H1):c.6276T>C (p.Phe2092=)
|
|
|
NM_001377.3(DYNC2H1):c.6306A>G (p.Ala2102=)
|
|
|
NM_001377.3(DYNC2H1):c.6347+14T>C
|
|
|
NM_001377.3(DYNC2H1):c.6347+7C>T
|
|
|
NM_001377.3(DYNC2H1):c.6347+8A>G
|
|
|
NM_001377.3(DYNC2H1):c.6347+8A>T
|
|
|
NM_001377.3(DYNC2H1):c.6348-17T>C
|
|
|
NM_001377.3(DYNC2H1):c.6348-4T>G
|
|
|
NM_001377.3(DYNC2H1):c.6351T>C (p.Asp2117=)
|
|
|
NM_001377.3(DYNC2H1):c.639C>T (p.Asp213=)
|
|
|
NM_001377.3(DYNC2H1):c.6477+10C>T
|
|
|
NM_001377.3(DYNC2H1):c.6477+12A>G
|
|
|
NM_001377.3(DYNC2H1):c.6477+15A>G
|
|
|
NM_001377.3(DYNC2H1):c.6477+15_6477+17del
|
|
|
NM_001377.3(DYNC2H1):c.6477+17A>G
|
|
|
NM_001377.3(DYNC2H1):c.6477+19T>A
|
|
|
NM_001377.3(DYNC2H1):c.6478-12T>A
|
|
|
NM_001377.3(DYNC2H1):c.6478-19C>T
|
|
|
NM_001377.3(DYNC2H1):c.648C>T (p.Ser216=)
|
|
|
NM_001377.3(DYNC2H1):c.6510G>A (p.Gly2170=)
|
|
|
NM_001377.3(DYNC2H1):c.651A>G (p.Leu217=)
|
|
|
NM_001377.3(DYNC2H1):c.6522T>C (p.Asn2174=)
|
|
|
NM_001377.3(DYNC2H1):c.6537A>G (p.Leu2179=)
|
|
|
NM_001377.3(DYNC2H1):c.6543T>C (p.Gly2181=)
|
|
|
NM_001377.3(DYNC2H1):c.6555T>C (p.His2185=)
|
|
|
NM_001377.3(DYNC2H1):c.6558C>A (p.Asp2186Glu)
|
rs199675558
|
|
NM_001377.3(DYNC2H1):c.6579A>C (p.Ile2193=)
|
|
|
NM_001377.3(DYNC2H1):c.6582G>A (p.Arg2194=)
|
|
|
NM_001377.3(DYNC2H1):c.6585A>T (p.Gly2195=)
|
|
|
NM_001377.3(DYNC2H1):c.6612A>C (p.Ser2204=)
|
|
|
NM_001377.3(DYNC2H1):c.6633+13T>C
|
|
|
NM_001377.3(DYNC2H1):c.6633+14A>G
|
|
|
NM_001377.3(DYNC2H1):c.6633+15T>C
|
|
|
NM_001377.3(DYNC2H1):c.6633+16dup
|
|
|
NM_001377.3(DYNC2H1):c.6634-13T>C
|
|
|
NM_001377.3(DYNC2H1):c.6634-13T>G
|
|
|
NM_001377.3(DYNC2H1):c.6634-18C>G
|
|
|
NM_001377.3(DYNC2H1):c.6634-8C>T
|
|
|
NM_001377.3(DYNC2H1):c.6636T>C (p.Val2212=)
|
|
|
NM_001377.3(DYNC2H1):c.6663A>G (p.Pro2221=)
|
|
|
NM_001377.3(DYNC2H1):c.66G>T (p.Gly22=)
|
|
|
NM_001377.3(DYNC2H1):c.6711A>C (p.Arg2237=)
|
|
|
NM_001377.3(DYNC2H1):c.6720A>G (p.Thr2240=)
|
|
|
NM_001377.3(DYNC2H1):c.6738A>G (p.Pro2246=)
|
|
|
NM_001377.3(DYNC2H1):c.6753T>G (p.Ala2251=)
|
|
|
NM_001377.3(DYNC2H1):c.6768C>T (p.Asn2256=)
|
|
|
NM_001377.3(DYNC2H1):c.6783A>G (p.Pro2261=)
|
|
|
NM_001377.3(DYNC2H1):c.6786C>G (p.Val2262=)
|
|
|
NM_001377.3(DYNC2H1):c.678T>C (p.Thr226=)
|
|
|
NM_001377.3(DYNC2H1):c.6801C>T (p.Asp2267=)
|
|
|
NM_001377.3(DYNC2H1):c.6814C>T (p.Leu2272=)
|
|
|
NM_001377.3(DYNC2H1):c.6858C>G (p.Pro2286=)
|
|
|
NM_001377.3(DYNC2H1):c.6873A>G (p.Gly2291=)
|
|
|
NM_001377.3(DYNC2H1):c.6888C>T (p.Gly2296=)
|
|
|
NM_001377.3(DYNC2H1):c.6891A>G (p.Lys2297=)
|
|
|
NM_001377.3(DYNC2H1):c.6893+13T>C
|
|
|
NM_001377.3(DYNC2H1):c.6893+17C>T
|
|
|
NM_001377.3(DYNC2H1):c.6894-13G>A
|
|
|
NM_001377.3(DYNC2H1):c.6894-14T>C
|
|
|
NM_001377.3(DYNC2H1):c.6894-15A>G
|
|
|
NM_001377.3(DYNC2H1):c.6894-16C>A
|
|
|
NM_001377.3(DYNC2H1):c.6894-18G>A
|
|
|
NM_001377.3(DYNC2H1):c.6894-19T>A
|
|
|
NM_001377.3(DYNC2H1):c.6900G>A (p.Leu2300=)
|
|
|
NM_001377.3(DYNC2H1):c.6912A>G (p.Ala2304=)
|
|
|
NM_001377.3(DYNC2H1):c.6918A>C (p.Ser2306=)
|
|
|
NM_001377.3(DYNC2H1):c.6924C>A (p.Leu2308=)
|
|
|
NM_001377.3(DYNC2H1):c.6927G>A (p.Arg2309=)
|
|
|
NM_001377.3(DYNC2H1):c.6933T>G (p.Thr2311=)
|
|
|
NM_001377.3(DYNC2H1):c.6936A>G (p.Gln2312=)
|
|
|
NM_001377.3(DYNC2H1):c.6954T>C (p.Cys2318=)
|
|
|
NM_001377.3(DYNC2H1):c.6957T>C (p.Ser2319=)
|
|
|
NM_001377.3(DYNC2H1):c.6963A>G (p.Gln2321=)
|
|
|
NM_001377.3(DYNC2H1):c.6975A>G (p.Arg2325=)
|
|
|
NM_001377.3(DYNC2H1):c.6981C>T (p.Leu2327=)
|
|
|
NM_001377.3(DYNC2H1):c.699T>C (p.Asp233=)
|
|
|
NM_001377.3(DYNC2H1):c.7001C>T (p.Thr2334Ile)
|
|
|
NM_001377.3(DYNC2H1):c.7005C>T (p.Cys2335=)
|
|
|
NM_001377.3(DYNC2H1):c.7020T>A (p.Thr2340=)
|
|
|
NM_001377.3(DYNC2H1):c.7020T>G (p.Thr2340=)
|
|
|
NM_001377.3(DYNC2H1):c.7032T>C (p.Arg2344=)
|
|
|
NM_001377.3(DYNC2H1):c.7035A>C (p.Val2345=)
|
|
|
NM_001377.3(DYNC2H1):c.7035A>G (p.Val2345=)
|
|
|
NM_001377.3(DYNC2H1):c.7065T>A (p.Val2355=)
|
|
|
NM_001377.3(DYNC2H1):c.7074A>G (p.Leu2358=)
|
|
|
NM_001377.3(DYNC2H1):c.7098T>G (p.Leu2366=)
|
|
|
NM_001377.3(DYNC2H1):c.7101T>C (p.Asp2367=)
|
|
|
NM_001377.3(DYNC2H1):c.7110G>C (p.Gly2370=)
|
|
|
NM_001377.3(DYNC2H1):c.7113C>G (p.Thr2371=)
|
|
|
NM_001377.3(DYNC2H1):c.7113C>T (p.Thr2371=)
|
|
|
NM_001377.3(DYNC2H1):c.7119T>A (p.Thr2373=)
|
|
|
NM_001377.3(DYNC2H1):c.7140+11T>C
|
|
|
NM_001377.3(DYNC2H1):c.7140+13del
|
|
|
NM_001377.3(DYNC2H1):c.7140+17G>A
|
|
|
NM_001377.3(DYNC2H1):c.7140+19A>C
|
|
|
NM_001377.3(DYNC2H1):c.7141-18A>G
|
|
|
NM_001377.3(DYNC2H1):c.7141-19T>C
|
|
|
NM_001377.3(DYNC2H1):c.7174T>C (p.Leu2392=)
|
|
|
NM_001377.3(DYNC2H1):c.7231A>C (p.Arg2411=)
|
|
|
NM_001377.3(DYNC2H1):c.7236G>A (p.Leu2412=)
|
|
|
NM_001377.3(DYNC2H1):c.7248A>G (p.Lys2416=)
|
|
|
NM_001377.3(DYNC2H1):c.7254T>C (p.Thr2418=)
|
|
|
NM_001377.3(DYNC2H1):c.7272C>T (p.Ile2424=)
|
|
|
NM_001377.3(DYNC2H1):c.7292+10T>C
|
|
|
NM_001377.3(DYNC2H1):c.7292+14T>A
|
|
|
NM_001377.3(DYNC2H1):c.7292+19C>G
|
|
|
NM_001377.3(DYNC2H1):c.7293-11A>G
|
|
|
NM_001377.3(DYNC2H1):c.7293-11A>T
|
|
|
NM_001377.3(DYNC2H1):c.7293-13C>A
|
|
|
NM_001377.3(DYNC2H1):c.7293-17T>C
|
|
|
NM_001377.3(DYNC2H1):c.729T>C (p.Tyr243=)
|
|
|
NM_001377.3(DYNC2H1):c.7314A>G (p.Leu2438=)
|
|
|
NM_001377.3(DYNC2H1):c.7317A>G (p.Gln2439=)
|
|
|
NM_001377.3(DYNC2H1):c.7323T>A (p.Ile2441=)
|
|
|
NM_001377.3(DYNC2H1):c.7326T>C (p.Tyr2442=)
|
|
|
NM_001377.3(DYNC2H1):c.732T>A (p.Pro244=)
|
|
|
NM_001377.3(DYNC2H1):c.7332A>G (p.Ala2444=)
|
|
|
NM_001377.3(DYNC2H1):c.7368T>C (p.Asn2456=)
|
|
|
NM_001377.3(DYNC2H1):c.7425A>G (p.Gln2475=)
|
|
|
NM_001377.3(DYNC2H1):c.7428G>T (p.Val2476=)
|
|
|
NM_001377.3(DYNC2H1):c.7437+18T>C
|
|
|
NM_001377.3(DYNC2H1):c.7437+8T>C
|
|
|
NM_001377.3(DYNC2H1):c.7438-14A>G
|
|
|
NM_001377.3(DYNC2H1):c.7438-16G>A
|
|
|
NM_001377.3(DYNC2H1):c.7438-16G>C
|
|
|
NM_001377.3(DYNC2H1):c.7438-9C>G
|
|
|
NM_001377.3(DYNC2H1):c.7440G>C (p.Val2480=)
|
|
|
NM_001377.3(DYNC2H1):c.7467T>C (p.Tyr2489=)
|
|
|
NM_001377.3(DYNC2H1):c.7470T>C (p.Ser2490=)
|
|
|
NM_001377.3(DYNC2H1):c.7476T>C (p.Tyr2492=)
|
|
|
NM_001377.3(DYNC2H1):c.747G>A (p.Leu249=)
|
|
|
NM_001377.3(DYNC2H1):c.7485T>C (p.Thr2495=)
|
|
|
NM_001377.3(DYNC2H1):c.7488T>C (p.Pro2496=)
|
|
|
NM_001377.3(DYNC2H1):c.7527T>C (p.Tyr2509=)
|
|
|
NM_001377.3(DYNC2H1):c.753C>G (p.Leu251=)
|
|
|
NM_001377.3(DYNC2H1):c.7540+10G>A
|
|
|
NM_001377.3(DYNC2H1):c.7540+13del
|
|
|
NM_001377.3(DYNC2H1):c.7540+14G>A
|
rs115273161
|
|
NM_001377.3(DYNC2H1):c.7540+14G>C
|
|
|
NM_001377.3(DYNC2H1):c.7540+14G>T
|
rs115273161
|
|
NM_001377.3(DYNC2H1):c.7540+17T>G
|
|
|
NM_001377.3(DYNC2H1):c.7540+18G>C
|
|
|
NM_001377.3(DYNC2H1):c.7540+19del
|
|
|
NM_001377.3(DYNC2H1):c.7540+20A>T
|
rs535988847
|
|
NM_001377.3(DYNC2H1):c.7541-20T>C
|
|
|
NM_001377.3(DYNC2H1):c.7541-8T>C
|
|
|
NM_001377.3(DYNC2H1):c.7541-8T>G
|
|
|
NM_001377.3(DYNC2H1):c.7542A>G (p.Gly2514=)
|
|
|
NM_001377.3(DYNC2H1):c.7542A>T (p.Gly2514=)
|
|
|
NM_001377.3(DYNC2H1):c.7552C>T (p.His2518Tyr)
|
|
|
NM_001377.3(DYNC2H1):c.7554T>C (p.His2518=)
|
rs2135052860
|
|
NM_001377.3(DYNC2H1):c.7569G>T (p.Val2523=)
|
|
|
NM_001377.3(DYNC2H1):c.7602A>G (p.Leu2534=)
|
|
|
NM_001377.3(DYNC2H1):c.7626A>G (p.Ala2542=)
|
|
|
NM_001377.3(DYNC2H1):c.766+10A>G
|
|
|
NM_001377.3(DYNC2H1):c.766+13A>C
|
|
|
NM_001377.3(DYNC2H1):c.767-10G>A
|
|
|
NM_001377.3(DYNC2H1):c.767-12A>C
|
|
|
NM_001377.3(DYNC2H1):c.767-12A>G
|
|
|
NM_001377.3(DYNC2H1):c.767-12_767-11del
|
|
|
NM_001377.3(DYNC2H1):c.767-5A>G
|
|
|
NM_001377.3(DYNC2H1):c.7683C>A (p.Gly2561=)
|
|
|
NM_001377.3(DYNC2H1):c.7686A>G (p.Ser2562=)
|
|
|
NM_001377.3(DYNC2H1):c.7689C>T (p.Asp2563=)
|
|
|
NM_001377.3(DYNC2H1):c.7708+14G>A
|
|
|
NM_001377.3(DYNC2H1):c.7708+19T>C
|
|
|
NM_001377.3(DYNC2H1):c.7708+20G>A
|
|
|
NM_001377.3(DYNC2H1):c.7708+20G>T
|
|
|
NM_001377.3(DYNC2H1):c.7709-14A>G
|
|
|
NM_001377.3(DYNC2H1):c.7709-15C>A
|
|
|
NM_001377.3(DYNC2H1):c.7709-9T>C
|
|
|
NM_001377.3(DYNC2H1):c.7709A>G (p.Asp2570Gly)
|
|
|
NM_001377.3(DYNC2H1):c.7725A>G (p.Thr2575=)
|
|
|
NM_001377.3(DYNC2H1):c.7737G>A (p.Arg2579=)
|
|
|
NM_001377.3(DYNC2H1):c.7740T>C (p.His2580=)
|
|
|
NM_001377.3(DYNC2H1):c.7764A>C (p.Pro2588=)
|
|
|
NM_001377.3(DYNC2H1):c.7764A>G (p.Pro2588=)
|
|
|
NM_001377.3(DYNC2H1):c.7773A>C (p.Pro2591=)
|
|
|
NM_001377.3(DYNC2H1):c.7773A>G (p.Pro2591=)
|
|
|
NM_001377.3(DYNC2H1):c.7774T>C (p.Leu2592=)
|
|
|
NM_001377.3(DYNC2H1):c.7794A>T (p.Pro2598=)
|
rs781691287
|
|
NM_001377.3(DYNC2H1):c.7797T>C (p.Leu2599=)
|
|
|
NM_001377.3(DYNC2H1):c.7806A>G (p.Leu2602=)
|
|
|
NM_001377.3(DYNC2H1):c.7839+19A>G
|
|
|
NM_001377.3(DYNC2H1):c.7839+8A>G
|
|
|
NM_001377.3(DYNC2H1):c.7839+9T>C
|
|
|
NM_001377.3(DYNC2H1):c.7839+9T>G
|
|
|
NM_001377.3(DYNC2H1):c.7840-17T>C
|
|
|
NM_001377.3(DYNC2H1):c.7840-19A>G
|
|
|
NM_001377.3(DYNC2H1):c.7840-20T>C
|
|
|
NM_001377.3(DYNC2H1):c.7840-5A>T
|
|
|
NM_001377.3(DYNC2H1):c.7840-6T>A
|
|
|
NM_001377.3(DYNC2H1):c.7857A>G (p.Gly2619=)
|
|
|
NM_001377.3(DYNC2H1):c.7860A>G (p.Arg2620=)
|
|
|
NM_001377.3(DYNC2H1):c.7866C>T (p.Asn2622=)
|
|
|
NM_001377.3(DYNC2H1):c.7900T>C (p.Leu2634=)
|
|
|
NM_001377.3(DYNC2H1):c.7905G>A (p.Glu2635=)
|
|
|
NM_001377.3(DYNC2H1):c.7923T>C (p.Asp2641=)
|
|
|
NM_001377.3(DYNC2H1):c.7932G>C (p.Leu2644=)
|
|
|
NM_001377.3(DYNC2H1):c.7950A>G (p.Ser2650=)
|
|
|
NM_001377.3(DYNC2H1):c.7956A>C (p.Leu2652=)
|
|
|
NM_001377.3(DYNC2H1):c.7983T>A (p.Arg2661=)
|
|
|
NM_001377.3(DYNC2H1):c.8010C>T (p.His2670=)
|
|
|
NM_001377.3(DYNC2H1):c.8022G>A (p.Ala2674=)
|
|
|
NM_001377.3(DYNC2H1):c.8031T>C (p.Phe2677=)
|
|
|
NM_001377.3(DYNC2H1):c.8052A>T (p.Gly2684=)
|
|
|
NM_001377.3(DYNC2H1):c.8055T>C (p.Tyr2685=)
|
|
|
NM_001377.3(DYNC2H1):c.8061G>A (p.Leu2687=)
|
|
|
NM_001377.3(DYNC2H1):c.8076T>C (p.Asn2692=)
|
|
|
NM_001377.3(DYNC2H1):c.807T>G (p.Thr269=)
|
|
|
NM_001377.3(DYNC2H1):c.8088+10C>A
|
|
|
NM_001377.3(DYNC2H1):c.8088+11C>A
|
|
|
NM_001377.3(DYNC2H1):c.8089-17A>T
|
|
|
NM_001377.3(DYNC2H1):c.8089-18_8089-17insG
|
|
|
NM_001377.3(DYNC2H1):c.8089-19A>G
|
|
|
NM_001377.3(DYNC2H1):c.8089-20A>G
|
|
|
NM_001377.3(DYNC2H1):c.8089-4G>A
|
|
|
NM_001377.3(DYNC2H1):c.8091G>C (p.Val2697=)
|
|
|
NM_001377.3(DYNC2H1):c.8106A>T (p.Gly2702=)
|
|
|
NM_001377.3(DYNC2H1):c.8128T>C (p.Leu2710=)
|
|
|
NM_001377.3(DYNC2H1):c.813C>T (p.Asn271=)
|
|
|
NM_001377.3(DYNC2H1):c.8163A>G (p.Thr2721=)
|
|
|
NM_001377.3(DYNC2H1):c.8167T>C (p.Leu2723=)
|
|
|
NM_001377.3(DYNC2H1):c.816G>T (p.Leu272=)
|
|
|
NM_001377.3(DYNC2H1):c.8178C>T (p.Ile2726=)
|
|
|
NM_001377.3(DYNC2H1):c.8187T>G (p.Leu2729=)
|
|
|
NM_001377.3(DYNC2H1):c.8190G>A (p.Leu2730=)
|
|
|
NM_001377.3(DYNC2H1):c.8197+10C>G
|
|
|
NM_001377.3(DYNC2H1):c.8197+15T>G
|
|
|
NM_001377.3(DYNC2H1):c.8198-10T>C
|
rs778867019
|
|
NM_001377.3(DYNC2H1):c.8198-13T>C
|
|
|
NM_001377.3(DYNC2H1):c.8198-16T>C
|
|
|
NM_001377.3(DYNC2H1):c.8198-4G>A
|
|
|
NM_001377.3(DYNC2H1):c.8217T>C (p.Tyr2739=)
|
|
|
NM_001377.3(DYNC2H1):c.8229A>G (p.Glu2743=)
|
|
|
NM_001377.3(DYNC2H1):c.8250A>T (p.Pro2750=)
|
|
|
NM_001377.3(DYNC2H1):c.8268A>G (p.Ser2756=)
|
|
|
NM_001377.3(DYNC2H1):c.8280T>C (p.Phe2760=)
|
|
|
NM_001377.3(DYNC2H1):c.8311+13G>C
|
|
|
NM_001377.3(DYNC2H1):c.8311+15A>G
|
|
|
NM_001377.3(DYNC2H1):c.8311+20T>C
|
|
|
NM_001377.3(DYNC2H1):c.8311+7G>A
|
|
|
NM_001377.3(DYNC2H1):c.8311+7G>C
|
|
|
NM_001377.3(DYNC2H1):c.8311+8A>G
|
|
|
NM_001377.3(DYNC2H1):c.8311+9C>T
|
|
|
NM_001377.3(DYNC2H1):c.8312-16C>A
|
|
|
NM_001377.3(DYNC2H1):c.8312-18T>C
|
|
|
NM_001377.3(DYNC2H1):c.8312-19A>C
|
|
|
NM_001377.3(DYNC2H1):c.8312-19A>G
|
|
|
NM_001377.3(DYNC2H1):c.8312-9A>G
|
|
|
NM_001377.3(DYNC2H1):c.8352T>A (p.Ser2784=)
|
|
|
NM_001377.3(DYNC2H1):c.8352T>C (p.Ser2784=)
|
|
|
NM_001377.3(DYNC2H1):c.8364C>T (p.Asn2788=)
|
|
|
NM_001377.3(DYNC2H1):c.8373A>T (p.Ile2791=)
|
|
|
NM_001377.3(DYNC2H1):c.8400T>C (p.His2800=)
|
|
|
NM_001377.3(DYNC2H1):c.8454+11C>T
|
|
|
NM_001377.3(DYNC2H1):c.8455-18A>G
|
|
|
NM_001377.3(DYNC2H1):c.8455-19T>C
|
|
|
NM_001377.3(DYNC2H1):c.8481A>T (p.Thr2827=)
|
|
|
NM_001377.3(DYNC2H1):c.8490A>C (p.Gly2830=)
|
|
|
NM_001377.3(DYNC2H1):c.8499C>T (p.Tyr2833=)
|
|
|
NM_001377.3(DYNC2H1):c.8505T>C (p.Asp2835=)
|
|
|
NM_001377.3(DYNC2H1):c.8539+20A>T
|
|
|
NM_001377.3(DYNC2H1):c.8539+8T>C
|
|
|
NM_001377.3(DYNC2H1):c.8539+9T>C
|
|
|
NM_001377.3(DYNC2H1):c.8540-12A>G
|
|
|
NM_001377.3(DYNC2H1):c.8540-14C>T
|
|
|
NM_001377.3(DYNC2H1):c.8540-4C>G
|
|
|
NM_001377.3(DYNC2H1):c.8540-4C>T
|
|
|
NM_001377.3(DYNC2H1):c.8540-4del
|
rs1229021642
|
|
NM_001377.3(DYNC2H1):c.8559A>G (p.Lys2853=)
|
|
|
NM_001377.3(DYNC2H1):c.8562A>G (p.Ser2854=)
|
|
|
NM_001377.3(DYNC2H1):c.8580A>T (p.Glu2860Asp)
|
|
|
NM_001377.3(DYNC2H1):c.8616C>T (p.Tyr2872=)
|
|
|
NM_001377.3(DYNC2H1):c.8622C>A (p.Thr2874=)
|
|
|
NM_001377.3(DYNC2H1):c.8668T>C (p.Leu2890=)
|
|
|
NM_001377.3(DYNC2H1):c.8673A>G (p.Leu2891=)
|
|
|
NM_001377.3(DYNC2H1):c.8688T>C (p.His2896=)
|
|
|
NM_001377.3(DYNC2H1):c.8694+12G>T
|
|
|
NM_001377.3(DYNC2H1):c.8694+15del
|
|
|
NM_001377.3(DYNC2H1):c.8694+19T>C
|
|
|
NM_001377.3(DYNC2H1):c.8694+20G>T
|
|
|
NM_001377.3(DYNC2H1):c.8695-10A>G
|
|
|
NM_001377.3(DYNC2H1):c.8695-15A>G
|
|
|
NM_001377.3(DYNC2H1):c.8695-15del
|
|
|
NM_001377.3(DYNC2H1):c.8695-5T>C
|
|
|
NM_001377.3(DYNC2H1):c.8695-6A>G
|
|
|
NM_001377.3(DYNC2H1):c.8697T>G (p.Ala2899=)
|
|
|
NM_001377.3(DYNC2H1):c.870T>C (p.Ile290=)
|
|
|
NM_001377.3(DYNC2H1):c.8710C>T (p.Leu2904=)
|
|
|
NM_001377.3(DYNC2H1):c.8745C>T (p.Asn2915=)
|
|
|
NM_001377.3(DYNC2H1):c.8748A>G (p.Arg2916=)
|
|
|
NM_001377.3(DYNC2H1):c.8772A>G (p.Leu2924=)
|
|
|
NM_001377.3(DYNC2H1):c.8781G>A (p.Thr2927=)
|
|
|
NM_001377.3(DYNC2H1):c.8787A>G (p.Gln2929=)
|
|
|
NM_001377.3(DYNC2H1):c.8796A>C (p.Ala2932=)
|
|
|
NM_001377.3(DYNC2H1):c.879G>A (p.Gln293=)
|
|
|
NM_001377.3(DYNC2H1):c.8805C>A (p.Ala2935=)
|
|
|
NM_001377.3(DYNC2H1):c.8811A>G (p.Gln2937=)
|
|
|
NM_001377.3(DYNC2H1):c.8820A>G (p.Thr2940=)
|
|
|
NM_001377.3(DYNC2H1):c.8826A>G (p.Ser2942=)
|
|
|
NM_001377.3(DYNC2H1):c.8832+10A>G
|
|
|
NM_001377.3(DYNC2H1):c.8832+17C>T
|
|
|
NM_001377.3(DYNC2H1):c.8832+18C>G
|
|
|
NM_001377.3(DYNC2H1):c.8833-10A>G
|
|
|
NM_001377.3(DYNC2H1):c.8833-13A>C
|
|
|
NM_001377.3(DYNC2H1):c.8833-18A>G
|
|
|
NM_001377.3(DYNC2H1):c.8833-20C>G
|
rs2135147432
|
|
NM_001377.3(DYNC2H1):c.8844G>A (p.Glu2948=)
|
|
|
NM_001377.3(DYNC2H1):c.8874C>T (p.His2958=)
|
|
|
NM_001377.3(DYNC2H1):c.8886A>G (p.Glu2962=)
|
|
|
NM_001377.3(DYNC2H1):c.8946+17T>C
|
|
|
NM_001377.3(DYNC2H1):c.8946+17T>G
|
|
|
NM_001377.3(DYNC2H1):c.8947-15C>T
|
|
|
NM_001377.3(DYNC2H1):c.8947-17G>A
|
|
|
NM_001377.3(DYNC2H1):c.8947-17G>T
|
|
|
NM_001377.3(DYNC2H1):c.8947-4T>C
|
|
|
NM_001377.3(DYNC2H1):c.8947-9C>A
|
|
|
NM_001377.3(DYNC2H1):c.8968C>T (p.Leu2990=)
|
|
|
NM_001377.3(DYNC2H1):c.8991C>G (p.Pro2997=)
|
|
|
NM_001377.3(DYNC2H1):c.8997A>G (p.Ser2999=)
|
|
|
NM_001377.3(DYNC2H1):c.9016C>T (p.Leu3006=)
|
|
|
NM_001377.3(DYNC2H1):c.9033T>C (p.Asp3011=)
|
|
|
NM_001377.3(DYNC2H1):c.9045T>C (p.Asp3015=)
|
|
|
NM_001377.3(DYNC2H1):c.9051T>C (p.Leu3017=)
|
|
|
NM_001377.3(DYNC2H1):c.9066G>A (p.Arg3022=)
|
|
|
NM_001377.3(DYNC2H1):c.9078C>T (p.Ile3026=)
|
|
|
NM_001377.3(DYNC2H1):c.9107+15T>C
|
|
|
NM_001377.3(DYNC2H1):c.9107+19G>A
|
|
|
NM_001377.3(DYNC2H1):c.9147C>T (p.Thr3049=)
|
|
|
NM_001377.3(DYNC2H1):c.9168A>C (p.Ser3056=)
|
|
|
NM_001377.3(DYNC2H1):c.9171G>A (p.Lys3057=)
|
|
|
NM_001377.3(DYNC2H1):c.9186T>C (p.Ser3062=)
|
|
|
NM_001377.3(DYNC2H1):c.9192A>G (p.Glu3064=)
|
|
|
NM_001377.3(DYNC2H1):c.9213A>G (p.Lys3071=)
|
|
|
NM_001377.3(DYNC2H1):c.9231+11A>G
|
|
|
NM_001377.3(DYNC2H1):c.9231+15A>G
|
|
|
NM_001377.3(DYNC2H1):c.9231+16T>C
|
|
|
NM_001377.3(DYNC2H1):c.9231+17A>G
|
|
|
NM_001377.3(DYNC2H1):c.9231+20A>G
|
|
|
NM_001377.3(DYNC2H1):c.9232-13A>G
|
|
|
NM_001377.3(DYNC2H1):c.9232-16C>T
|
|
|
NM_001377.3(DYNC2H1):c.9240G>A (p.Lys3080=)
|
|
|
NM_001377.3(DYNC2H1):c.9264T>G (p.Pro3088=)
|
|
|
NM_001377.3(DYNC2H1):c.9273C>T (p.Ala3091=)
|
|
|
NM_001377.3(DYNC2H1):c.9279G>A (p.Val3093=)
|
|
|
NM_001377.3(DYNC2H1):c.9303T>C (p.His3101=)
|
|
|
NM_001377.3(DYNC2H1):c.9307T>C (p.Leu3103=)
|
|
|
NM_001377.3(DYNC2H1):c.930T>C (p.Val310=)
|
|
|
NM_001377.3(DYNC2H1):c.9324T>G (p.Pro3108=)
|
|
|
NM_001377.3(DYNC2H1):c.9339G>A (p.Gln3113=)
|
|
|
NM_001377.3(DYNC2H1):c.933T>G (p.Pro311=)
|
|
|
NM_001377.3(DYNC2H1):c.9345A>T (p.Gly3115=)
|
|
|
NM_001377.3(DYNC2H1):c.9353+12A>G
|
|
|
NM_001377.3(DYNC2H1):c.9354-4T>G
|
|
|
NM_001377.3(DYNC2H1):c.9354-7A>G
|
|
|
NM_001377.3(DYNC2H1):c.936T>C (p.His312=)
|
|
|
NM_001377.3(DYNC2H1):c.9378A>G (p.Arg3126=)
|
|
|
NM_001377.3(DYNC2H1):c.9387A>G (p.Lys3129=)
|
|
|
NM_001377.3(DYNC2H1):c.9393G>A (p.Glu3131=)
|
|
|
NM_001377.3(DYNC2H1):c.9440+10A>G
|
|
|
NM_001377.3(DYNC2H1):c.9440+13T>A
|
|
|
NM_001377.3(DYNC2H1):c.9440+9T>A
|
|
|
NM_001377.3(DYNC2H1):c.9441-17T>C
|
|
|
NM_001377.3(DYNC2H1):c.9441-5C>T
|
|
|
NM_001377.3(DYNC2H1):c.9465T>G (p.Ala3155=)
|
|
|
NM_001377.3(DYNC2H1):c.9468C>A (p.Ala3156=)
|
|
|
NM_001377.3(DYNC2H1):c.9495A>G (p.Ala3165=)
|
|
|
NM_001377.3(DYNC2H1):c.951A>G (p.Glu317=)
|
|
|
NM_001377.3(DYNC2H1):c.9534G>A (p.Gln3178=)
|
|
|
NM_001377.3(DYNC2H1):c.9552G>A (p.Lys3184=)
|
|
|
NM_001377.3(DYNC2H1):c.9564A>G (p.Ala3188=)
|
|
|
NM_001377.3(DYNC2H1):c.9564A>T (p.Ala3188=)
|
|
|
NM_001377.3(DYNC2H1):c.9567+13G>C
|
|
|
NM_001377.3(DYNC2H1):c.9567+18G>A
|
|
|
NM_001377.3(DYNC2H1):c.9567+20C>T
|
|
|
NM_001377.3(DYNC2H1):c.9568-11C>T
|
|
|
NM_001377.3(DYNC2H1):c.9568-14T>C
|
|
|
NM_001377.3(DYNC2H1):c.9568-15C>T
|
|
|
NM_001377.3(DYNC2H1):c.9568-16T>C
|
|
|
NM_001377.3(DYNC2H1):c.9568-17C>T
|
|
|
NM_001377.3(DYNC2H1):c.9568-18TC[2]
|
|
|
NM_001377.3(DYNC2H1):c.9568-4C>G
|
|
|
NM_001377.3(DYNC2H1):c.9568-6T>G
|
|
|
NM_001377.3(DYNC2H1):c.9600T>C (p.Leu3200=)
|
|
|
NM_001377.3(DYNC2H1):c.9624T>C (p.Ala3208=)
|
|
|
NM_001377.3(DYNC2H1):c.9636A>G (p.Thr3212=)
|
|
|
NM_001377.3(DYNC2H1):c.963A>T (p.Pro321=)
|
rs771975812
|
|
NM_001377.3(DYNC2H1):c.9681A>G (p.Glu3227=)
|
|
|
NM_001377.3(DYNC2H1):c.9690C>G (p.Thr3230=)
|
|
|
NM_001377.3(DYNC2H1):c.9702T>C (p.Gly3234=)
|
|
|
NM_001377.3(DYNC2H1):c.9709+9T>C
|
|
|
NM_001377.3(DYNC2H1):c.9710-12T>C
|
|
|
NM_001377.3(DYNC2H1):c.9710-19A>G
|
|
|
NM_001377.3(DYNC2H1):c.9738T>C (p.Thr3246=)
|
|
|
NM_001377.3(DYNC2H1):c.9747G>A (p.Glu3249=)
|
|
|
NM_001377.3(DYNC2H1):c.9753A>G (p.Leu3251=)
|
|
|
NM_001377.3(DYNC2H1):c.9762A>G (p.Lys3254=)
|
|
|
NM_001377.3(DYNC2H1):c.9777A>G (p.Pro3259=)
|
|
|
NM_001377.3(DYNC2H1):c.9801T>C (p.Asn3267=)
|
|
|
NM_001377.3(DYNC2H1):c.9819+13_9819+17del
|
|
|
NM_001377.3(DYNC2H1):c.9819+18A>G
|
|
|
NM_001377.3(DYNC2H1):c.9819+18A>T
|
|
|
NM_001377.3(DYNC2H1):c.9819+19T>A
|
|
|
NM_001377.3(DYNC2H1):c.9819+20T>C
|
|
|
NM_001377.3(DYNC2H1):c.9820-2129A>T
|
|
|
NM_001377.3(DYNC2H1):c.9820-2134T>G
|
|
|
NM_001377.3(DYNC2H1):c.9820-2138C>G
|
|
|
NM_001377.3(DYNC2H1):c.9820-2170T>C
|
|
|
NM_001377.3(DYNC2H1):c.9820-2174T>G
|
|
|
NM_001377.3(DYNC2H1):c.9820-2175C>T
|
|
|
NM_001377.3(DYNC2H1):c.9820-2179T>G
|
|
|
NM_001377.3(DYNC2H1):c.9820-5A>T
|
|
|
NM_001377.3(DYNC2H1):c.9820-7A>G
|
|
|
NM_001377.3(DYNC2H1):c.9820-7dup
|
|
|
NM_001377.3(DYNC2H1):c.9846T>C (p.Asp3282=)
|
rs886047572
|
|
NM_001377.3(DYNC2H1):c.9864A>G (p.Thr3288=)
|
|
|
NM_001377.3(DYNC2H1):c.9867G>A (p.Glu3289=)
|
|
|
NM_001377.3(DYNC2H1):c.987A>G (p.Lys329=)
|
|
|
NM_001377.3(DYNC2H1):c.9888A>G (p.Lys3296=)
|
|
|
NM_001377.3(DYNC2H1):c.9912T>C (p.Asn3304=)
|
|
|
NM_001377.3(DYNC2H1):c.9915G>A (p.Gln3305=)
|
|
|
NM_001377.3(DYNC2H1):c.9918+10_9918+12del
|
|
|
NM_001377.3(DYNC2H1):c.9918+7A>G
|
|
|
NM_001377.3(DYNC2H1):c.9919-10A>G
|
|
|
NM_001377.3(DYNC2H1):c.9919-12T>C
|
|
|
NM_001377.3(DYNC2H1):c.9919-17del
|
|
|
NM_001377.3(DYNC2H1):c.9919-18T>C
|
|
|
NM_001377.3(DYNC2H1):c.9919-5A>T
|
|
|
NM_001377.3(DYNC2H1):c.9919-7C>T
|
|
|
NM_001377.3(DYNC2H1):c.9933C>T (p.Ile3311=)
|
|
|
NM_001377.3(DYNC2H1):c.993T>A (p.Leu331=)
|
|
|
NM_001377.3(DYNC2H1):c.993T>G (p.Leu331=)
|
|
|
NM_001377.3(DYNC2H1):c.9942T>C (p.Leu3314=)
|
|
|
NM_001377.3(DYNC2H1):c.9957T>A (p.Arg3319=)
|
|
|
NM_001377.3(DYNC2H1):c.9963G>A (p.Gly3321=)
|
|
|
NM_001377.3(DYNC2H1):c.9978A>C (p.Ile3326=)
|
|
|
NM_001377.3(DYNC2H1):c.9978A>T (p.Ile3326=)
|
|
|
NM_001377.3(DYNC2H1):c.999+12A>T
|
|
|
NM_001377.3(DYNC2H1):c.999+19A>C
|
|
|
NM_001377.3(DYNC2H1):c.999+8T>C
|
|
|
NM_014714.4(IFT140):c.1009+10C>T
|
|
|
NM_014714.4(IFT140):c.1009+16C>A
|
|
|
NM_014714.4(IFT140):c.1009+17T>C
|
|
|
NM_014714.4(IFT140):c.1009+17T>G
|
|
|
NM_014714.4(IFT140):c.1010-10C>A
|
|
|
NM_014714.4(IFT140):c.1010-15T>G
|
|
|
NM_014714.4(IFT140):c.102C>T (p.Tyr34=)
|
|
|
NM_014714.4(IFT140):c.1035A>G (p.Arg345=)
|
|
|
NM_014714.4(IFT140):c.1038G>C (p.Gly346=)
|
|
|
NM_014714.4(IFT140):c.1055G>A (p.Arg352Lys)
|
|
|
NM_014714.4(IFT140):c.1089A>G (p.Ala363=)
|
|
|
NM_014714.4(IFT140):c.1104G>A (p.Arg368=)
|
rs2141839599
|
|
NM_014714.4(IFT140):c.1119C>T (p.Thr373=)
|
|
|
NM_014714.4(IFT140):c.1125C>G (p.Thr375=)
|
|
|
NM_014714.4(IFT140):c.1134A>G (p.Gln378=)
|
|
|
NM_014714.4(IFT140):c.1155+18G>A
|
rs2034862936
|
|
NM_014714.4(IFT140):c.1156-11T>C
|
|
|
NM_014714.4(IFT140):c.1156-19T>C
|
|
|
NM_014714.4(IFT140):c.1167G>A (p.Arg389=)
|
|
|
NM_014714.4(IFT140):c.1177C>T (p.Leu393=)
|
|
|
NM_014714.4(IFT140):c.1191C>T (p.Ser397=)
|
|
|
NM_014714.4(IFT140):c.1203G>A (p.Val401=)
|
|
|
NM_014714.4(IFT140):c.1215C>T (p.Ser405=)
|
rs778865722
|
|
NM_014714.4(IFT140):c.1221G>A (p.Arg407=)
|
|
|
NM_014714.4(IFT140):c.1221G>C (p.Arg407=)
|
|
|
NM_014714.4(IFT140):c.1251G>A (p.Val417=)
|
rs1011320736
|
|
NM_014714.4(IFT140):c.1296G>A (p.Leu432=)
|
rs2141817626
|
|
NM_014714.4(IFT140):c.1299C>T (p.Ser433=)
|
|
|
NM_014714.4(IFT140):c.1318C>T (p.Leu440=)
|
|
|
NM_014714.4(IFT140):c.1360-13T>C
|
|
|
NM_014714.4(IFT140):c.1362T>C (p.Asp454=)
|
|
|
NM_014714.4(IFT140):c.1371A>G (p.Ala457=)
|
|
|
NM_014714.4(IFT140):c.1383A>C (p.Gly461=)
|
|
|
NM_014714.4(IFT140):c.1404G>A (p.Glu468=)
|
|
|
NM_014714.4(IFT140):c.1428T>C (p.Ser476=)
|
rs771030841
|
|
NM_014714.4(IFT140):c.1432+17C>T
|
|
|
NM_014714.4(IFT140):c.1432+18G>T
|
|
|
NM_014714.4(IFT140):c.1432+20A>G
|
|
|
NM_014714.4(IFT140):c.1432+8C>A
|
rs1470310323
|
|
NM_014714.4(IFT140):c.1433-11T>G
|
|
|
NM_014714.4(IFT140):c.1433-14G>A
|
|
|
NM_014714.4(IFT140):c.1433-8C>A
|
rs2034521408
|
|
NM_014714.4(IFT140):c.147+13A>G
|
|
|
NM_014714.4(IFT140):c.148-14C>G
|
|
|
NM_014714.4(IFT140):c.148-16_148-15delinsGC
|
rs2142043610
|
|
NM_014714.4(IFT140):c.148-17C>T
|
|
|
NM_014714.4(IFT140):c.148-8C>A
|
rs2142043483
|
|
NM_014714.4(IFT140):c.1491G>A (p.Val497=)
|
|
|
NM_014714.4(IFT140):c.1501C>A (p.Arg501=)
|
|
|
NM_014714.4(IFT140):c.1524+16A>G
|
|
|
NM_014714.4(IFT140):c.1524+19G>A
|
|
|
NM_014714.4(IFT140):c.1525-19T>C
|
|
|
NM_014714.4(IFT140):c.1525-74_1525-14del
|
|
|
NM_014714.4(IFT140):c.1530T>C (p.Thr510=)
|
rs2141634694
|
|
NM_014714.4(IFT140):c.1541_1542delinsAA (p.Leu514Gln)
|
rs886043802
|
|
NM_014714.4(IFT140):c.1593G>A (p.Gly531=)
|
|
|
NM_014714.4(IFT140):c.1600C>T (p.Leu534=)
|
rs747185980
|
|
NM_014714.4(IFT140):c.1605T>C (p.Val535=)
|
|
|
NM_014714.4(IFT140):c.1623T>G (p.Ala541=)
|
rs1269165048
|
|
NM_014714.4(IFT140):c.1652+18A>G
|
|
|
NM_014714.4(IFT140):c.1652+20_1652+33del
|
rs2141632142
|
|
NM_014714.4(IFT140):c.1652+8T>G
|
rs2141632572
|
|
NM_014714.4(IFT140):c.1653-10C>G
|
rs2141597092
|
|
NM_014714.4(IFT140):c.1653-10del
|
rs760597633
|
|
NM_014714.4(IFT140):c.1653-12del
|
rs1466360910
|
|
NM_014714.4(IFT140):c.1653-4G>T
|
rs750603473
|
|
NM_014714.4(IFT140):c.1653-7C>G
|
|
|
NM_014714.4(IFT140):c.1656G>A (p.Glu552=)
|
rs1188167246
|
|
NM_014714.4(IFT140):c.1677C>T (p.Cys559=)
|
|
|
NM_014714.4(IFT140):c.1689G>A (p.Ala563=)
|
|
|
NM_014714.4(IFT140):c.1707G>C (p.Val569=)
|
|
|
NM_014714.4(IFT140):c.1717G>A (p.Ala573Thr)
|
rs528350505
|
|
NM_014714.4(IFT140):c.171C>T (p.His57=)
|
rs141882340
|
|
NM_014714.4(IFT140):c.1726C>A (p.Arg576=)
|
|
|
NM_014714.4(IFT140):c.1734C>T (p.Ser578=)
|
|
|
NM_014714.4(IFT140):c.1737C>T (p.Ser579=)
|
rs1230491407
|
|
NM_014714.4(IFT140):c.1752C>T (p.Ile584=)
|
rs2141595363
|
|
NM_014714.4(IFT140):c.1767C>T (p.Ser589=)
|
|
|
NM_014714.4(IFT140):c.1770+15C>G
|
rs374526643
|
|
NM_014714.4(IFT140):c.1770+15C>T
|
|
|
NM_014714.4(IFT140):c.1770+16G>A
|
rs563911349
|
|
NM_014714.4(IFT140):c.1770+16G>T
|
rs563911349
|
|
NM_014714.4(IFT140):c.1771-10C>T
|
|
|
NM_014714.4(IFT140):c.1771-5_1771-3del
|
rs767298881
|
|
NM_014714.4(IFT140):c.178A>C (p.Arg60=)
|
rs2142042835
|
|
NM_014714.4(IFT140):c.1806C>T (p.Tyr602=)
|
|
|
NM_014714.4(IFT140):c.1866A>G (p.Arg622=)
|
|
|
NM_014714.4(IFT140):c.1872G>T (p.Thr624=)
|
rs775156902
|
|
NM_014714.4(IFT140):c.188G>A (p.Arg63Gln)
|
|
|
NM_014714.4(IFT140):c.1901+14T>A
|
|
|
NM_014714.4(IFT140):c.1901+20G>A
|
rs2033701264
|
|
NM_014714.4(IFT140):c.1901+8T>C
|
|
|
NM_014714.4(IFT140):c.1902-12T>G
|
rs2033586818
|
|
NM_014714.4(IFT140):c.1902-7C>T
|
rs2141543589
|
|
NM_014714.4(IFT140):c.1933A>G (p.Asn645Asp)
|
rs540658203
|
|
NM_014714.4(IFT140):c.1945G>A (p.Val649Met)
|
rs534052238
|
|
NM_014714.4(IFT140):c.1950C>T (p.Asn650=)
|
|
|
NM_014714.4(IFT140):c.1998G>A (p.Val666=)
|
|
|
NM_014714.4(IFT140):c.2006C>T (p.Thr669Met)
|
|
|
NM_014714.4(IFT140):c.2007G>A (p.Thr669=)
|
|
|
NM_014714.4(IFT140):c.2011C>T (p.Arg671Cys)
|
|
|
NM_014714.4(IFT140):c.2016C>G (p.Ser672=)
|
|
|
NM_014714.4(IFT140):c.2046A>G (p.Gln682=)
|
|
|
NM_014714.4(IFT140):c.2055C>T (p.Arg685=)
|
rs201447957
|
|
NM_014714.4(IFT140):c.2058T>C (p.Ala686=)
|
rs2033572500
|
|
NM_014714.4(IFT140):c.2067+8C>G
|
|
|
NM_014714.4(IFT140):c.2068-19A>G
|
|
|
NM_014714.4(IFT140):c.2068-7C>G
|
|
|
NM_014714.4(IFT140):c.2068-7C>T
|
|
|
NM_014714.4(IFT140):c.2068-8T>C
|
|
|
NM_014714.4(IFT140):c.2068-9C>T
|
rs767007478
|
|
NM_014714.4(IFT140):c.2136C>A (p.Pro712=)
|
|
|
NM_014714.4(IFT140):c.213G>A (p.Pro71=)
|
|
|
NM_014714.4(IFT140):c.2142T>C (p.Pro714=)
|
|
|
NM_014714.4(IFT140):c.2151C>G (p.Ser717=)
|
|
|
NM_014714.4(IFT140):c.2157T>C (p.Ser719=)
|
|
|
NM_014714.4(IFT140):c.2160C>A (p.Leu720=)
|
rs751181187
|
|
NM_014714.4(IFT140):c.2193A>G (p.Thr731=)
|
rs2033435159
|
|
NM_014714.4(IFT140):c.2199+12C>T
|
|
|
NM_014714.4(IFT140):c.2199+20G>A
|
|
|
NM_014714.4(IFT140):c.2199+7A>G
|
|
|
NM_014714.4(IFT140):c.2200-10T>C
|
|
|
NM_014714.4(IFT140):c.2200-14C>T
|
rs1206714111
|
|
NM_014714.4(IFT140):c.2203G>A (p.Glu735Lys)
|
|
|
NM_014714.4(IFT140):c.2214C>T (p.Asp738=)
|
|
|
NM_014714.4(IFT140):c.2226G>A (p.Glu742=)
|
|
|
NM_014714.4(IFT140):c.2232G>A (p.Glu744=)
|
|
|
NM_014714.4(IFT140):c.2274C>G (p.Pro758=)
|
|
|
NM_014714.4(IFT140):c.2316C>T (p.Thr772=)
|
|
|
NM_014714.4(IFT140):c.2331C>T (p.Leu777=)
|
|
|
NM_014714.4(IFT140):c.2337C>T (p.Phe779=)
|
|
|
NM_014714.4(IFT140):c.2373C>T (p.Ala791=)
|
rs2141465212
|
|
NM_014714.4(IFT140):c.2399+19G>C
|
rs2033191634
|
|
NM_014714.4(IFT140):c.2400-12G>A
|
rs186193750
|
|
NM_014714.4(IFT140):c.2400-12G>C
|
|
|
NM_014714.4(IFT140):c.2400-16C>A
|
|
|
NM_014714.4(IFT140):c.2400-17C>T
|
rs1245431866
|
|
NM_014714.4(IFT140):c.2400-4A>G
|
rs771174483
|
|
NM_014714.4(IFT140):c.2427C>A (p.Arg809=)
|
|
|
NM_014714.4(IFT140):c.2434G>A (p.Val812Met)
|
|
|
NM_014714.4(IFT140):c.2442C>G (p.Thr814=)
|
|
|
NM_014714.4(IFT140):c.2446C>A (p.Arg816=)
|
rs549813139
|
|
NM_014714.4(IFT140):c.2446C>T (p.Arg816Trp)
|
rs549813139
|
|
NM_014714.4(IFT140):c.2475G>T (p.Gly825=)
|
|
|
NM_014714.4(IFT140):c.2500C>A (p.Arg834=)
|
|
|
NM_014714.4(IFT140):c.2517G>T (p.Ala839=)
|
|
|
NM_014714.4(IFT140):c.2550C>G (p.Ala850=)
|
rs2745180
|
|
NM_014714.4(IFT140):c.2554C>T (p.Leu852=)
|
rs779954025
|
|
NM_014714.4(IFT140):c.255G>A (p.Val85=)
|
|
|
NM_014714.4(IFT140):c.2565G>A (p.Gln855=)
|
|
|
NM_014714.4(IFT140):c.2577+11C>T
|
|
|
NM_014714.4(IFT140):c.2577+13del
|
rs1487210393
|
|
NM_014714.4(IFT140):c.2577+14G>A
|
|
|
NM_014714.4(IFT140):c.2577+8G>T
|
|
|
NM_014714.4(IFT140):c.2578-10C>T
|
|
|
NM_014714.4(IFT140):c.2578-15A>G
|
|
|
NM_014714.4(IFT140):c.2578-19G>A
|
|
|
NM_014714.4(IFT140):c.2578-8T>C
|
rs781483603
|
|
NM_014714.4(IFT140):c.258G>A (p.Thr86=)
|
rs766569165
|
|
NM_014714.4(IFT140):c.2616C>T (p.His872=)
|
rs761615768
|
|
NM_014714.4(IFT140):c.261G>A (p.Val87=)
|
|
|
NM_014714.4(IFT140):c.2628C>T (p.Asn876=)
|
|
|
NM_014714.4(IFT140):c.2634C>T (p.Phe878=)
|
|
|
NM_014714.4(IFT140):c.2646G>C (p.Ala882=)
|
|
|
NM_014714.4(IFT140):c.2676C>T (p.Ala892=)
|
rs377016838
|
|
NM_014714.4(IFT140):c.2679G>A (p.Glu893=)
|
|
|
NM_014714.4(IFT140):c.2685C>T (p.His895=)
|
rs762560105
|
|
NM_014714.4(IFT140):c.2694G>A (p.Val898=)
|
rs1555478342
|
|
NM_014714.4(IFT140):c.2698C>T (p.Leu900=)
|
|
|
NM_014714.4(IFT140):c.2712C>T (p.Tyr904=)
|
rs1188805365
|
|
NM_014714.4(IFT140):c.2716C>T (p.Arg906Cys)
|
rs755504361
|
|
NM_014714.4(IFT140):c.2755C>A (p.Arg919=)
|
|
|
NM_014714.4(IFT140):c.2768+11C>G
|
rs1330666788
|
|
NM_014714.4(IFT140):c.2768+15C>G
|
rs546649507
|
|
NM_014714.4(IFT140):c.2768+15C>T
|
rs546649507
|
|
NM_014714.4(IFT140):c.2768+16G>A
|
|
|
NM_014714.4(IFT140):c.2768+19G>A
|
|
|
NM_014714.4(IFT140):c.2768+8C>T
|
rs1044252490
|
|
NM_014714.4(IFT140):c.2769-10_2769-8del
|
rs747185911
|
|
NM_014714.4(IFT140):c.2769-11T>G
|
|
|
NM_014714.4(IFT140):c.2769-15C>T
|
|
|
NM_014714.4(IFT140):c.2788C>T (p.His930Tyr)
|
|
|
NM_014714.4(IFT140):c.2814G>C (p.Leu938=)
|
rs750405092
|
|
NM_014714.4(IFT140):c.2820G>A (p.Glu940=)
|
rs2141175137
|
|
NM_014714.4(IFT140):c.2824C>G (p.Leu942Val)
|
|
|
NM_014714.4(IFT140):c.2828C>T (p.Pro943Leu)
|
rs200561100
|
|
NM_014714.4(IFT140):c.2829G>C (p.Pro943=)
|
|
|
NM_014714.4(IFT140):c.2835G>C (p.Leu945=)
|
|
|
NM_014714.4(IFT140):c.2864+18G>T
|
|
|
NM_014714.4(IFT140):c.2864+19G>A
|
|
|
NM_014714.4(IFT140):c.2864+19_2864+27del
|
|
|
NM_014714.4(IFT140):c.2865-15T>C
|
|
|
NM_014714.4(IFT140):c.2865-18G>T
|
|
|
NM_014714.4(IFT140):c.2865-4G>A
|
rs113784788
|
|
NM_014714.4(IFT140):c.2865-4G>T
|
rs113784788
|
|
NM_014714.4(IFT140):c.2865-8G>T
|
|
|
NM_014714.4(IFT140):c.2868C>A (p.Thr956=)
|
|
|
NM_014714.4(IFT140):c.2868C>T (p.Thr956=)
|
|
|
NM_014714.4(IFT140):c.2869C>T (p.Leu957=)
|
|
|
NM_014714.4(IFT140):c.2886G>T (p.Ala962=)
|
|
|
NM_014714.4(IFT140):c.2904G>A (p.Gln968=)
|
|
|
NM_014714.4(IFT140):c.2907C>A (p.Gly969=)
|
rs1157630610
|
|
NM_014714.4(IFT140):c.2923C>T (p.Leu975=)
|
|
|
NM_014714.4(IFT140):c.2931C>T (p.Tyr977=)
|
|
|
NM_014714.4(IFT140):c.2970C>A (p.Ile990=)
|
|
|
NM_014714.4(IFT140):c.2997+11C>T
|
rs551125772
|
|
NM_014714.4(IFT140):c.2997+12G>A
|
rs200390733
|
|
NM_014714.4(IFT140):c.2997+12G>C
|
|
|
NM_014714.4(IFT140):c.2997+18G>A
|
|
|
NM_014714.4(IFT140):c.2997+20G>A
|
|
|
NM_014714.4(IFT140):c.2997+8C>A
|
|
|
NM_014714.4(IFT140):c.2997+8C>G
|
rs372183503
|
|
NM_014714.4(IFT140):c.2998-14C>A
|
|
|
NM_014714.4(IFT140):c.2998-4C>T
|
rs764678988
|
|
NM_014714.4(IFT140):c.3003G>A (p.Ala1001=)
|
rs151293332
|
|
NM_014714.4(IFT140):c.3003G>T (p.Ala1001=)
|
rs151293332
|
|
NM_014714.4(IFT140):c.3027C>T (p.Asn1009=)
|
|
|
NM_014714.4(IFT140):c.3036C>T (p.Ala1012=)
|
|
|
NM_014714.4(IFT140):c.3045C>T (p.His1015=)
|
rs2141170948
|
|
NM_014714.4(IFT140):c.3057G>A (p.Gln1019=)
|
|
|
NM_014714.4(IFT140):c.3078C>T (p.Val1026=)
|
|
|
NM_014714.4(IFT140):c.3099C>T (p.Tyr1033=)
|
|
|
NM_014714.4(IFT140):c.3117C>T (p.Phe1039=)
|
rs2141170386
|
|
NM_014714.4(IFT140):c.3123T>C (p.Asn1041=)
|
|
|
NM_014714.4(IFT140):c.3141+15G>C
|
|
|
NM_014714.4(IFT140):c.3141+16G>T
|
|
|
NM_014714.4(IFT140):c.3142-14C>T
|
|
|
NM_014714.4(IFT140):c.3189C>G (p.Ser1063=)
|
rs2141166224
|
|
NM_014714.4(IFT140):c.3192C>T (p.Pro1064=)
|
|
|
NM_014714.4(IFT140):c.3195G>A (p.Glu1065=)
|
rs2040596493
|
|
NM_014714.4(IFT140):c.3215G>A (p.Arg1072Gln)
|
rs201884886
|
|
NM_014714.4(IFT140):c.3216A>G (p.Arg1072=)
|
|
|
NM_014714.4(IFT140):c.3219C>T (p.Tyr1073=)
|
|
|
NM_014714.4(IFT140):c.3222C>T (p.Tyr1074=)
|
|
|
NM_014714.4(IFT140):c.3246C>T (p.Asp1082=)
|
|
|
NM_014714.4(IFT140):c.3270+14A>G
|
|
|
NM_014714.4(IFT140):c.3270+15C>G
|
|
|
NM_014714.4(IFT140):c.3270+17G>A
|
|
|
NM_014714.4(IFT140):c.3270+9T>G
|
|
|
NM_014714.4(IFT140):c.3271-18A>G
|
|
|
NM_014714.4(IFT140):c.3273T>C (p.Ala1091=)
|
|
|
NM_014714.4(IFT140):c.328C>A (p.Arg110Ser)
|
rs140159548
|
|
NM_014714.4(IFT140):c.3291C>G (p.Ala1097=)
|
|
|
NM_014714.4(IFT140):c.3312C>T (p.Thr1104=)
|
rs2040588187
|
|
NM_014714.4(IFT140):c.3369T>C (p.Pro1123=)
|
|
|
NM_014714.4(IFT140):c.3372G>A (p.Ala1124=)
|
|
|
NM_014714.4(IFT140):c.3375C>A (p.Leu1125=)
|
|
|
NM_014714.4(IFT140):c.3375C>T (p.Leu1125=)
|
rs1478734815
|
|
NM_014714.4(IFT140):c.3381C>G (p.Ala1127=)
|
|
|
NM_014714.4(IFT140):c.3417C>T (p.Tyr1139=)
|
rs572040196
|
|
NM_014714.4(IFT140):c.3420G>A (p.Glu1140=)
|
|
|
NM_014714.4(IFT140):c.3433C>T (p.Leu1145=)
|
|
|
NM_014714.4(IFT140):c.3450G>A (p.Arg1150=)
|
|
|
NM_014714.4(IFT140):c.3453+13C>T
|
|
|
NM_014714.4(IFT140):c.3453+15G>A
|
|
|
NM_014714.4(IFT140):c.3453+20T>G
|
|
|
NM_014714.4(IFT140):c.3454-19C>T
|
|
|
NM_014714.4(IFT140):c.3454-20C>A
|
rs2141148514
|
|
NM_014714.4(IFT140):c.3454-4G>C
|
|
|
NM_014714.4(IFT140):c.3454-8C>T
|
rs892113982
|
|
NM_014714.4(IFT140):c.345A>G (p.Gly115=)
|
|
|
NM_014714.4(IFT140):c.3513G>A (p.Ala1171=)
|
rs763709094
|
|
NM_014714.4(IFT140):c.3513G>T (p.Ala1171=)
|
|
|
NM_014714.4(IFT140):c.3525C>T (p.Thr1175=)
|
rs752664070
|
|
NM_014714.4(IFT140):c.3528G>A (p.Val1176=)
|
|
|
NM_014714.4(IFT140):c.3543G>C (p.Ser1181=)
|
|
|
NM_014714.4(IFT140):c.3552T>C (p.Pro1184=)
|
|
|
NM_014714.4(IFT140):c.3561G>A (p.Ser1187=)
|
rs769082969
|
|
NM_014714.4(IFT140):c.3561G>C (p.Ser1187=)
|
rs769082969
|
|
NM_014714.4(IFT140):c.3562C>A (p.Arg1188=)
|
|
|
NM_014714.4(IFT140):c.3565C>A (p.Arg1189=)
|
|
|
NM_014714.4(IFT140):c.3576G>A (p.Leu1192=)
|
rs2141147573
|
|
NM_014714.4(IFT140):c.3579G>A (p.Glu1193=)
|
|
|
NM_014714.4(IFT140):c.3609C>T (p.Gly1203=)
|
rs2040497930
|
|
NM_014714.4(IFT140):c.3615C>T (p.Tyr1205=)
|
|
|
NM_014714.4(IFT140):c.3624C>T (p.Ala1208=)
|
|
|
NM_014714.4(IFT140):c.3655C>T (p.Leu1219=)
|
|
|
NM_014714.4(IFT140):c.3660+13C>G
|
|
|
NM_014714.4(IFT140):c.3660+13C>T
|
rs767836990
|
|
NM_014714.4(IFT140):c.3661-14G>C
|
|
|
NM_014714.4(IFT140):c.3661-17G>A
|
|
|
NM_014714.4(IFT140):c.3661-20C>T
|
rs1237006550
|
|
NM_014714.4(IFT140):c.369+11_369+12del
|
|
|
NM_014714.4(IFT140):c.369+15G>A
|
|
|
NM_014714.4(IFT140):c.369+16C>A
|
|
|
NM_014714.4(IFT140):c.369+20A>G
|
|
|
NM_014714.4(IFT140):c.370-10G>A
|
|
|
NM_014714.4(IFT140):c.370-20G>A
|
rs200779129
|
|
NM_014714.4(IFT140):c.370-20G>C
|
rs200779129
|
|
NM_014714.4(IFT140):c.3717C>T (p.Ser1239=)
|
|
|
NM_014714.4(IFT140):c.3726G>A (p.Arg1242=)
|
rs1023280480
|
|
NM_014714.4(IFT140):c.3792G>A (p.Glu1264=)
|
|
|
NM_014714.4(IFT140):c.382C>G (p.Leu128Val)
|
|
|
NM_014714.4(IFT140):c.3843C>G (p.Leu1281=)
|
|
|
NM_014714.4(IFT140):c.3873+16G>C
|
rs2141143932
|
|
NM_014714.4(IFT140):c.3873+17G>A
|
|
|
NM_014714.4(IFT140):c.3874-10A>T
|
|
|
NM_014714.4(IFT140):c.3874-18C>T
|
|
|
NM_014714.4(IFT140):c.3874-7T>C
|
rs2141143432
|
|
NM_014714.4(IFT140):c.3874-8C>T
|
|
|
NM_014714.4(IFT140):c.3879G>A (p.Glu1293=)
|
rs2040472652
|
|
NM_014714.4(IFT140):c.387G>A (p.Leu129=)
|
rs369420968
|
|
NM_014714.4(IFT140):c.3909C>G (p.Ala1303=)
|
|
|
NM_014714.4(IFT140):c.3924C>T (p.Thr1308=)
|
|
|
NM_014714.4(IFT140):c.3942G>A (p.Leu1314=)
|
|
|
NM_014714.4(IFT140):c.3963C>T (p.Ser1321=)
|
|
|
NM_014714.4(IFT140):c.4020G>A (p.Lys1340=)
|
rs759849021
|
|
NM_014714.4(IFT140):c.4040+12G>A
|
|
|
NM_014714.4(IFT140):c.4040+13G>C
|
|
|
NM_014714.4(IFT140):c.4040+14G>T
|
|
|
NM_014714.4(IFT140):c.4041-11G>A
|
rs1385552425
|
|
NM_014714.4(IFT140):c.4041-11G>C
|
|
|
NM_014714.4(IFT140):c.4041-15C>G
|
|
|
NM_014714.4(IFT140):c.4041-18C>G
|
rs373126808
|
|
NM_014714.4(IFT140):c.4041-19T>C
|
|
|
NM_014714.4(IFT140):c.4041-9T>C
|
rs2141135557
|
|
NM_014714.4(IFT140):c.4059C>A (p.Pro1353=)
|
|
|
NM_014714.4(IFT140):c.4059C>G (p.Pro1353=)
|
|
|
NM_014714.4(IFT140):c.405G>A (p.Arg135=)
|
|
|
NM_014714.4(IFT140):c.4104C>T (p.Asp1368=)
|
|
|
NM_014714.4(IFT140):c.4119C>T (p.Ile1373=)
|
|
|
NM_014714.4(IFT140):c.4143C>T (p.Phe1381=)
|
|
|
NM_014714.4(IFT140):c.4149G>A (p.Val1383=)
|
|
|
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.4182+14G>A
|
|
|
NM_014714.4(IFT140):c.4182+20C>G
|
|
|
NM_014714.4(IFT140):c.4183-11C>T
|
rs776525322
|
|
NM_014714.4(IFT140):c.4183-12C>G
|
|
|
NM_014714.4(IFT140):c.4183-12C>T
|
rs1486803523
|
|
NM_014714.4(IFT140):c.4183-14C>A
|
|
|
NM_014714.4(IFT140):c.4183-19G>A
|
|
|
NM_014714.4(IFT140):c.4183-21_4183-20dup
|
|
|
NM_014714.4(IFT140):c.4183-6C>T
|
rs1461505278
|
|
NM_014714.4(IFT140):c.4203G>A (p.Glu1401=)
|
|
|
NM_014714.4(IFT140):c.4208GGC[4] (p.Arg1405dup)
|
rs754312950
|
|
NM_014714.4(IFT140):c.4209G>A (p.Arg1403=)
|
|
|
NM_014714.4(IFT140):c.420G>A (p.Gly140=)
|
|
|
NM_014714.4(IFT140):c.4211G>A (p.Arg1404Gln)
|
|
|
NM_014714.4(IFT140):c.4221C>A (p.Pro1407=)
|
rs544908970
|
|
NM_014714.4(IFT140):c.4227C>G (p.Ala1409=)
|
rs143920103
|
|
NM_014714.4(IFT140):c.4227C>T (p.Ala1409=)
|
|
|
NM_014714.4(IFT140):c.4242C>T (p.Tyr1414=)
|
|
|
NM_014714.4(IFT140):c.4254G>A (p.Gln1418=)
|
|
|
NM_014714.4(IFT140):c.4278G>A (p.Gly1426=)
|
|
|
NM_014714.4(IFT140):c.4299C>G (p.Arg1433=)
|
|
|
NM_014714.4(IFT140):c.4308C>T (p.Pro1436=)
|
|
|
NM_014714.4(IFT140):c.4320C>T (p.Arg1440=)
|
|
|
NM_014714.4(IFT140):c.435A>G (p.Lys145=)
|
|
|
NM_014714.4(IFT140):c.4388G>A (p.Ter1463=)
|
rs1299854506
|
|
NM_014714.4(IFT140):c.456C>T (p.Leu152=)
|
|
|
NM_014714.4(IFT140):c.459G>A (p.Thr153=)
|
rs61739554
|
|
NM_014714.4(IFT140):c.474G>C (p.Arg158=)
|
rs145287241
|
|
NM_014714.4(IFT140):c.474G>T (p.Arg158=)
|
rs145287241
|
|
NM_014714.4(IFT140):c.480C>A (p.Pro160=)
|
|
|
NM_014714.4(IFT140):c.481C>A (p.Pro161Thr)
|
rs148462329
|
|
NM_014714.4(IFT140):c.481C>G (p.Pro161Ala)
|
rs148462329
|
|
NM_014714.4(IFT140):c.482C>A (p.Pro161His)
|
rs191927317
|
|
NM_014714.4(IFT140):c.482C>G (p.Pro161Arg)
|
|
|
NM_014714.4(IFT140):c.491+10G>A
|
|
|
NM_014714.4(IFT140):c.491+11G>T
|
|
|
NM_014714.4(IFT140):c.491+16G>A
|
|
|
NM_014714.4(IFT140):c.492-15C>G
|
|
|
NM_014714.4(IFT140):c.492-19G>A
|
|
|
NM_014714.4(IFT140):c.505T>C (p.Leu169=)
|
|
|
NM_014714.4(IFT140):c.525C>T (p.Ser175=)
|
rs772378665
|
|
NM_014714.4(IFT140):c.54C>G (p.Pro18=)
|
|
|
NM_014714.4(IFT140):c.634+13G>C
|
|
|
NM_014714.4(IFT140):c.634+9C>G
|
|
|
NM_014714.4(IFT140):c.635-12G>A
|
rs12447357
|
|
NM_014714.4(IFT140):c.678G>C (p.Val226=)
|
rs1270248004
|
|
NM_014714.4(IFT140):c.681G>A (p.Val227=)
|
|
|
NM_014714.4(IFT140):c.683C>G (p.Ser228Cys)
|
rs752659125
|
|
NM_014714.4(IFT140):c.724A>C (p.Arg242=)
|
|
|
NM_014714.4(IFT140):c.732A>C (p.Ala244=)
|
|
|
NM_014714.4(IFT140):c.772A>T (p.Thr258Ser)
|
rs141254616
|
|
NM_014714.4(IFT140):c.78C>G (p.Val26=)
|
|
|
NM_014714.4(IFT140):c.792A>G (p.Lys264=)
|
|
|
NM_014714.4(IFT140):c.810+14G>A
|
|
|
NM_014714.4(IFT140):c.810+7G>A
|
|
|
NM_014714.4(IFT140):c.811-11dup
|
rs2034984327
|
|
NM_014714.4(IFT140):c.811-18G>A
|
rs371769718
|
|
NM_014714.4(IFT140):c.816G>A (p.Lys272=)
|
|
|
NM_014714.4(IFT140):c.831C>T (p.Thr277=)
|
|
|
NM_014714.4(IFT140):c.836G>A (p.Arg279His)
|
rs4786350
|
|
NM_014714.4(IFT140):c.864C>A (p.Gly288=)
|
|
|
NM_014714.4(IFT140):c.867C>G (p.Ser289Arg)
|
rs145858131
|
|
NM_014714.4(IFT140):c.867C>T (p.Ser289=)
|
rs145858131
|
|
NM_014714.4(IFT140):c.873C>T (p.Leu291=)
|
|
|
NM_014714.4(IFT140):c.903-8T>C
|
|
|
NM_014714.4(IFT140):c.903-9C>T
|
rs373647468
|
|
NM_014714.4(IFT140):c.912C>T (p.Asp304=)
|
|
|
NM_014714.4(IFT140):c.939G>C (p.Leu313=)
|
|
|
NM_014714.4(IFT140):c.945A>G (p.Pro315=)
|
|
|
NM_014714.4(IFT140):c.951G>A (p.Glu317=)
|
rs2141851936
|
|
NM_014714.4(IFT140):c.975G>A (p.Glu325=)
|
rs1330112951
|
|
NM_014714.4(IFT140):c.9C>G (p.Leu3=)
|
|
|
NM_015662.3(IFT172):c.1005+18C>T
|
|
|
NM_015662.3(IFT172):c.1006-14T>A
|
|
|
NM_015662.3(IFT172):c.1006-16C>A
|
|
|
NM_015662.3(IFT172):c.1006-16C>T
|
|
|
NM_015662.3(IFT172):c.1006-19dup
|
rs1455103617
|
|
NM_015662.3(IFT172):c.1011T>C (p.Ile337=)
|
rs2148544369
|
|
NM_015662.3(IFT172):c.1021C>T (p.Leu341=)
|
|
|
NM_015662.3(IFT172):c.1023G>C (p.Leu341=)
|
|
|
NM_015662.3(IFT172):c.1044G>A (p.Val348=)
|
|
|
NM_015662.3(IFT172):c.1050G>A (p.Lys350=)
|
|
|
NM_015662.3(IFT172):c.1053A>G (p.Ser351=)
|
|
|
NM_015662.3(IFT172):c.1071G>A (p.Val357=)
|
|
|
NM_015662.3(IFT172):c.1104C>T (p.Tyr368=)
|
|
|
NM_015662.3(IFT172):c.1140G>A (p.Gly380=)
|
|
|
NM_015662.3(IFT172):c.1144C>T (p.Leu382=)
|
|
|
NM_015662.3(IFT172):c.1158G>C (p.Arg386=)
|
|
|
NM_015662.3(IFT172):c.1167+17A>T
|
|
|
NM_015662.3(IFT172):c.1167+18G>A
|
|
|
NM_015662.3(IFT172):c.1167+20G>A
|
rs2148543898
|
|
NM_015662.3(IFT172):c.1168-12C>T
|
|
|
NM_015662.3(IFT172):c.1168-15C>T
|
rs1668059914
|
|
NM_015662.3(IFT172):c.1168-16T>C
|
|
|
NM_015662.3(IFT172):c.1168-17G>A
|
|
|
NM_015662.3(IFT172):c.1168-8C>T
|
|
|
NM_015662.3(IFT172):c.117G>A (p.Val39=)
|
|
|
NM_015662.3(IFT172):c.1197G>A (p.Glu399=)
|
rs2148543008
|
|
NM_015662.3(IFT172):c.1222-15C>T
|
|
|
NM_015662.3(IFT172):c.1222-9T>G
|
|
|
NM_015662.3(IFT172):c.1227C>T (p.Cys409=)
|
rs973370518
|
|
NM_015662.3(IFT172):c.1254C>G (p.Thr418=)
|
rs1468553045
|
|
NM_015662.3(IFT172):c.126G>A (p.Leu42=)
|
rs2148559862
|
|
NM_015662.3(IFT172):c.1281C>T (p.Thr427=)
|
|
|
NM_015662.3(IFT172):c.1311C>T (p.Asn437=)
|
|
|
NM_015662.3(IFT172):c.1325+14A>T
|
|
|
NM_015662.3(IFT172):c.1326-10C>A
|
|
|
NM_015662.3(IFT172):c.1326-8T>C
|
|
|
NM_015662.3(IFT172):c.1368T>C (p.Asn456=)
|
|
|
NM_015662.3(IFT172):c.1380T>G (p.Ala460=)
|
rs1465089677
|
|
NM_015662.3(IFT172):c.1383T>C (p.Tyr461=)
|
rs201572769
|
|
NM_015662.3(IFT172):c.1411+7A>G
|
|
|
NM_015662.3(IFT172):c.1411+8A>C
|
|
|
NM_015662.3(IFT172):c.1412-14C>T
|
|
|
NM_015662.3(IFT172):c.1412-16C>T
|
|
|
NM_015662.3(IFT172):c.1412-20C>G
|
rs1487705973
|
|
NM_015662.3(IFT172):c.1419G>A (p.Leu473=)
|
|
|
NM_015662.3(IFT172):c.1443C>G (p.Thr481=)
|
rs780600337
|
|
NM_015662.3(IFT172):c.1485G>A (p.Glu495=)
|
|
|
NM_015662.3(IFT172):c.1488T>C (p.Thr496=)
|
rs1369233091
|
|
NM_015662.3(IFT172):c.1503C>T (p.Leu501=)
|
rs1667628081
|
|
NM_015662.3(IFT172):c.1521T>C (p.Leu507=)
|
|
|
NM_015662.3(IFT172):c.1524+10G>A
|
|
|
NM_015662.3(IFT172):c.1524+11C>A
|
rs2148531337
|
|
NM_015662.3(IFT172):c.1524+19G>T
|
rs1667624184
|
|
NM_015662.3(IFT172):c.1525-6C>G
|
rs201231401
|
|
NM_015662.3(IFT172):c.1590G>A (p.Gln530=)
|
rs770918577
|
|
NM_015662.3(IFT172):c.1614G>A (p.Leu538=)
|
|
|
NM_015662.3(IFT172):c.1674C>G (p.Val558=)
|
rs1455569315
|
|
NM_015662.3(IFT172):c.1692+12A>T
|
|
|
NM_015662.3(IFT172):c.1692+18G>A
|
|
|
NM_015662.3(IFT172):c.1692+9G>A
|
|
|
NM_015662.3(IFT172):c.1693-7T>A
|
|
|
NM_015662.3(IFT172):c.1693-8T>A
|
rs1192375297
|
|
NM_015662.3(IFT172):c.1693-9C>A
|
|
|
NM_015662.3(IFT172):c.1710G>A (p.Leu570=)
|
rs2148516446
|
|
NM_015662.3(IFT172):c.1722G>C (p.Gly574=)
|
|
|
NM_015662.3(IFT172):c.1731C>T (p.Thr577=)
|
rs369849820
|
|
NM_015662.3(IFT172):c.1743G>A (p.Val581=)
|
|
|
NM_015662.3(IFT172):c.1767C>T (p.Ala589=)
|
|
|
NM_015662.3(IFT172):c.177C>T (p.Asp59=)
|
|
|
NM_015662.3(IFT172):c.1797T>C (p.Phe599=)
|
|
|
NM_015662.3(IFT172):c.1809T>C (p.Ile603=)
|
|
|
NM_015662.3(IFT172):c.1829+7G>A
|
|
|
NM_015662.3(IFT172):c.183+13T>C
|
|
|
NM_015662.3(IFT172):c.1830-13C>T
|
rs1667020853
|
|
NM_015662.3(IFT172):c.1830-6T>G
|
rs758128239
|
|
NM_015662.3(IFT172):c.1830-8C>T
|
|
|
NM_015662.3(IFT172):c.184-23dup
|
rs747166252
|
|
NM_015662.3(IFT172):c.184-8del
|
|
|
NM_015662.3(IFT172):c.18G>A (p.Leu6=)
|
|
|
NM_015662.3(IFT172):c.1905A>G (p.Ala635=)
|
rs2148515325
|
|
NM_015662.3(IFT172):c.1926C>T (p.His642=)
|
|
|
NM_015662.3(IFT172):c.1938-15G>A
|
|
|
NM_015662.3(IFT172):c.1938-17T>C
|
|
|
NM_015662.3(IFT172):c.1980G>T (p.Leu660=)
|
|
|
NM_015662.3(IFT172):c.2023-20A>G
|
|
|
NM_015662.3(IFT172):c.2023-5C>G
|
|
|
NM_015662.3(IFT172):c.2023-9_2023-8insAA
|
|
|
NM_015662.3(IFT172):c.2062C>T (p.Leu688=)
|
|
|
NM_015662.3(IFT172):c.2094T>C (p.Ala698=)
|
|
|
NM_015662.3(IFT172):c.2112A>G (p.Glu704=)
|
|
|
NM_015662.3(IFT172):c.2115+12A>G
|
|
|
NM_015662.3(IFT172):c.2116-11G>C
|
|
|
NM_015662.3(IFT172):c.2116-11G>T
|
|
|
NM_015662.3(IFT172):c.2116-5C>G
|
|
|
NM_015662.3(IFT172):c.2116-5C>T
|
rs754154643
|
|
NM_015662.3(IFT172):c.2116-7C>T
|
|
|
NM_015662.3(IFT172):c.2130G>A (p.Glu710=)
|
|
|
NM_015662.3(IFT172):c.2145C>T (p.Tyr715=)
|
|
|
NM_015662.3(IFT172):c.2166T>C (p.Asp722=)
|
|
|
NM_015662.3(IFT172):c.2169G>A (p.Glu723=)
|
|
|
NM_015662.3(IFT172):c.2172T>C (p.Cys724=)
|
|
|
NM_015662.3(IFT172):c.2178T>C (p.Ala726=)
|
rs2148507415
|
|
NM_015662.3(IFT172):c.2190C>T (p.Ala730=)
|
rs781352681
|
|
NM_015662.3(IFT172):c.2193+13T>C
|
rs947674391
|
|
NM_015662.3(IFT172):c.2193+14C>A
|
rs1666690784
|
|
NM_015662.3(IFT172):c.2193+16T>C
|
|
|
NM_015662.3(IFT172):c.2193+16_2193+18del
|
rs1215056367
|
|
NM_015662.3(IFT172):c.2193+18T>C
|
|
|
NM_015662.3(IFT172):c.2194-10G>T
|
rs1666669350
|
|
NM_015662.3(IFT172):c.2194-15T>G
|
rs1666669871
|
|
NM_015662.3(IFT172):c.2194-6G>T
|
|
|
NM_015662.3(IFT172):c.2194-8A>G
|
|
|
NM_015662.3(IFT172):c.2194-9C>A
|
|
|
NM_015662.3(IFT172):c.2199C>T (p.His733=)
|
rs146482086
|
|
NM_015662.3(IFT172):c.219T>A (p.Ala73=)
|
rs2148559300
|
|
NM_015662.3(IFT172):c.2214G>A (p.Lys738=)
|
|
|
NM_015662.3(IFT172):c.2232C>T (p.Tyr744=)
|
|
|
NM_015662.3(IFT172):c.2277A>G (p.Leu759=)
|
rs2148506541
|
|
NM_015662.3(IFT172):c.2299C>T (p.Leu767=)
|
rs1666656398
|
|
NM_015662.3(IFT172):c.2403C>T (p.His801=)
|
|
|
NM_015662.3(IFT172):c.2430A>G (p.Glu810=)
|
|
|
NM_015662.3(IFT172):c.2442+14C>T
|
|
|
NM_015662.3(IFT172):c.2442+9G>C
|
rs771351250
|
|
NM_015662.3(IFT172):c.2443-14G>T
|
rs1261651716
|
|
NM_015662.3(IFT172):c.246C>G (p.Ala82=)
|
|
|
NM_015662.3(IFT172):c.2487G>A (p.Leu829=)
|
rs2148505508
|
|
NM_015662.3(IFT172):c.2496C>T (p.Tyr832=)
|
rs377514145
|
|
NM_015662.3(IFT172):c.2521+15T>A
|
|
|
NM_015662.3(IFT172):c.2522-11C>T
|
|
|
NM_015662.3(IFT172):c.2522-15T>C
|
rs2148502867
|
|
NM_015662.3(IFT172):c.2532G>T (p.Leu844=)
|
rs1446552642
|
|
NM_015662.3(IFT172):c.2544C>G (p.Ala848=)
|
|
|
NM_015662.3(IFT172):c.2568A>G (p.Leu856=)
|
|
|
NM_015662.3(IFT172):c.2571G>A (p.Glu857=)
|
|
|
NM_015662.3(IFT172):c.2592G>A (p.Leu864=)
|
|
|
NM_015662.3(IFT172):c.2604G>A (p.Lys868=)
|
|
|
NM_015662.3(IFT172):c.2642+11A>T
|
|
|
NM_015662.3(IFT172):c.2642+12T>C
|
|
|
NM_015662.3(IFT172):c.2642+12T>G
|
rs775954601
|
|
NM_015662.3(IFT172):c.2642+18T>C
|
|
|
NM_015662.3(IFT172):c.2643-15T>C
|
|
|
NM_015662.3(IFT172):c.2643-18C>G
|
|
|
NM_015662.3(IFT172):c.2643-4C>T
|
|
|
NM_015662.3(IFT172):c.2661T>C (p.Ile887=)
|
|
|
NM_015662.3(IFT172):c.2685G>A (p.Gln895=)
|
|
|
NM_015662.3(IFT172):c.2691G>A (p.Lys897=)
|
|
|
NM_015662.3(IFT172):c.2715A>G (p.Leu905=)
|
rs985482566
|
|
NM_015662.3(IFT172):c.2757C>G (p.Ala919=)
|
|
|
NM_015662.3(IFT172):c.2765A>G (p.Tyr922Cys)
|
rs767901253
|
|
NM_015662.3(IFT172):c.2772C>T (p.Ser924=)
|
|
|
NM_015662.3(IFT172):c.2788-11A>G
|
|
|
NM_015662.3(IFT172):c.2788-12C>T
|
|
|
NM_015662.3(IFT172):c.2788-20C>T
|
|
|
NM_015662.3(IFT172):c.2811G>A (p.Lys937=)
|
rs1666401548
|
|
NM_015662.3(IFT172):c.282G>A (p.Lys94=)
|
|
|
NM_015662.3(IFT172):c.2877+10G>A
|
rs2148500039
|
|
NM_015662.3(IFT172):c.2877+8T>C
|
|
|
NM_015662.3(IFT172):c.2878-19T>C
|
|
|
NM_015662.3(IFT172):c.2878-4A>G
|
|
|
NM_015662.3(IFT172):c.2883G>A (p.Ala961=)
|
|
|
NM_015662.3(IFT172):c.2896A>C (p.Arg966=)
|
|
|
NM_015662.3(IFT172):c.291A>G (p.Glu97=)
|
rs189236939
|
|
NM_015662.3(IFT172):c.297-15del
|
|
|
NM_015662.3(IFT172):c.2976-16G>A
|
|
|
NM_015662.3(IFT172):c.2985G>A (p.Val995=)
|
|
|
NM_015662.3(IFT172):c.3054C>T (p.Arg1018=)
|
|
|
NM_015662.3(IFT172):c.3081C>G (p.Leu1027=)
|
rs1572750803
|
|
NM_015662.3(IFT172):c.3105G>A (p.Leu1035=)
|
|
|
NM_015662.3(IFT172):c.3111+20C>T
|
|
|
NM_015662.3(IFT172):c.3111+7C>T
|
|
|
NM_015662.3(IFT172):c.3112-15C>T
|
|
|
NM_015662.3(IFT172):c.3112-20C>T
|
|
|
NM_015662.3(IFT172):c.3112-7C>T
|
|
|
NM_015662.3(IFT172):c.3114G>A (p.Glu1038=)
|
|
|
NM_015662.3(IFT172):c.312C>T (p.Val104=)
|
|
|
NM_015662.3(IFT172):c.3225C>T (p.Tyr1075=)
|
rs1666265665
|
|
NM_015662.3(IFT172):c.3228+20C>G
|
|
|
NM_015662.3(IFT172):c.3229-9G>T
|
|
|
NM_015662.3(IFT172):c.3267C>T (p.His1089=)
|
|
|
NM_015662.3(IFT172):c.3294G>A (p.Leu1098=)
|
|
|
NM_015662.3(IFT172):c.3300A>G (p.Gly1100=)
|
|
|
NM_015662.3(IFT172):c.3312T>A (p.Val1104=)
|
rs2148494491
|
|
NM_015662.3(IFT172):c.3336C>T (p.Leu1112=)
|
|
|
NM_015662.3(IFT172):c.336+17T>G
|
rs980703626
|
|
NM_015662.3(IFT172):c.3371+12A>G
|
|
|
NM_015662.3(IFT172):c.3371+20C>T
|
|
|
NM_015662.3(IFT172):c.3372-20A>G
|
|
|
NM_015662.3(IFT172):c.3372-9C>T
|
rs755327956
|
|
NM_015662.3(IFT172):c.339T>C (p.Ser113=)
|
|
|
NM_015662.3(IFT172):c.3429G>A (p.Glu1143=)
|
rs2148490003
|
|
NM_015662.3(IFT172):c.3438C>T (p.Leu1146=)
|
|
|
NM_015662.3(IFT172):c.3447T>C (p.Ala1149=)
|
rs2148489948
|
|
NM_015662.3(IFT172):c.3465+11G>T
|
|
|
NM_015662.3(IFT172):c.3465+8T>C
|
|
|
NM_015662.3(IFT172):c.3466-13TC[2]
|
rs773373497
|
|
NM_015662.3(IFT172):c.3466-17C>T
|
rs2148489457
|
|
NM_015662.3(IFT172):c.3513C>A (p.Pro1171=)
|
|
|
NM_015662.3(IFT172):c.3516G>A (p.Lys1172=)
|
|
|
NM_015662.3(IFT172):c.3530+17A>G
|
|
|
NM_015662.3(IFT172):c.3530+18T>C
|
rs2148489134
|
|
NM_015662.3(IFT172):c.3530+20C>A
|
|
|
NM_015662.3(IFT172):c.3600C>A (p.Ala1200=)
|
rs1406584809
|
|
NM_015662.3(IFT172):c.3600C>T (p.Ala1200=)
|
rs1406584809
|
|
NM_015662.3(IFT172):c.3663G>A (p.Gly1221=)
|
rs892273103
|
|
NM_015662.3(IFT172):c.369A>G (p.Glu123=)
|
|
|
NM_015662.3(IFT172):c.3702T>C (p.Asn1234=)
|
|
|
NM_015662.3(IFT172):c.3711+8A>T
|
|
|
NM_015662.3(IFT172):c.3712-17C>A
|
rs760418910
|
|
NM_015662.3(IFT172):c.3712-18A>G
|
|
|
NM_015662.3(IFT172):c.3712-6G>C
|
rs1665914988
|
|
NM_015662.3(IFT172):c.3735T>G (p.Ala1245=)
|
|
|
NM_015662.3(IFT172):c.3736C>T (p.Leu1246=)
|
rs1665912193
|
|
NM_015662.3(IFT172):c.3778C>T (p.Leu1260=)
|
rs1012597627
|
|
NM_015662.3(IFT172):c.3801A>G (p.Glu1267=)
|
|
|
NM_015662.3(IFT172):c.3816G>C (p.Gly1272=)
|
|
|
NM_015662.3(IFT172):c.3819C>T (p.Ala1273=)
|
|
|
NM_015662.3(IFT172):c.3821+11A>T
|
|
|
NM_015662.3(IFT172):c.3822-12_3822-11del
|
rs2148486525
|
|
NM_015662.3(IFT172):c.3822-13C>G
|
rs765929814
|
|
NM_015662.3(IFT172):c.3822-15C>T
|
|
|
NM_015662.3(IFT172):c.3822-5C>T
|
|
|
NM_015662.3(IFT172):c.3822-8C>T
|
|
|
NM_015662.3(IFT172):c.3828G>A (p.Val1276=)
|
|
|
NM_015662.3(IFT172):c.384T>C (p.Phe128=)
|
|
|
NM_015662.3(IFT172):c.3870A>C (p.Gly1290=)
|
|
|
NM_015662.3(IFT172):c.387A>G (p.Gly129=)
|
|
|
NM_015662.3(IFT172):c.3888G>A (p.Val1296=)
|
|
|
NM_015662.3(IFT172):c.3951+11C>G
|
|
|
NM_015662.3(IFT172):c.3951+11C>T
|
|
|
NM_015662.3(IFT172):c.3951+17C>T
|
|
|
NM_015662.3(IFT172):c.3951+18T>A
|
|
|
NM_015662.3(IFT172):c.3951+8C>T
|
|
|
NM_015662.3(IFT172):c.3952-14G>A
|
rs763108930
|
|
NM_015662.3(IFT172):c.3952-6A>C
|
rs908057940
|
|
NM_015662.3(IFT172):c.399G>A (p.Gly133=)
|
|
|
NM_015662.3(IFT172):c.4011T>A (p.Ala1337=)
|
|
|
NM_015662.3(IFT172):c.402+8A>G
|
|
|
NM_015662.3(IFT172):c.4029T>A (p.Ile1343=)
|
|
|
NM_015662.3(IFT172):c.4041G>A (p.Lys1347=)
|
|
|
NM_015662.3(IFT172):c.4050+9del
|
|
|
NM_015662.3(IFT172):c.4051-13T>A
|
|
|
NM_015662.3(IFT172):c.4051-13del
|
rs756768673
|
|
NM_015662.3(IFT172):c.4051-8C>T
|
rs1183759904
|
|
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.4131G>A (p.Ala1377=)
|
|
|
NM_015662.3(IFT172):c.4149G>A (p.Glu1383=)
|
|
|
NM_015662.3(IFT172):c.414A>C (p.Ala138=)
|
rs1668544883
|
|
NM_015662.3(IFT172):c.4160+19_4160+21del
|
rs760484345
|
|
NM_015662.3(IFT172):c.4161-10A>G
|
|
|
NM_015662.3(IFT172):c.4161-18C>G
|
rs1558357557
|
|
NM_015662.3(IFT172):c.4173T>C (p.Tyr1391=)
|
rs1572722884
|
|
NM_015662.3(IFT172):c.4176G>C (p.Val1392=)
|
rs1243938107
|
|
NM_015662.3(IFT172):c.4185T>C (p.His1395=)
|
|
|
NM_015662.3(IFT172):c.4224+8T>C
|
|
|
NM_015662.3(IFT172):c.4225-17G>A
|
|
|
NM_015662.3(IFT172):c.4225-17G>C
|
|
|
NM_015662.3(IFT172):c.4225-19C>G
|
|
|
NM_015662.3(IFT172):c.4225-19_4225-18del
|
|
|
NM_015662.3(IFT172):c.4225-9T>C
|
|
|
NM_015662.3(IFT172):c.4239T>C (p.Asp1413=)
|
rs748345321
|
|
NM_015662.3(IFT172):c.4258C>T (p.Leu1420=)
|
|
|
NM_015662.3(IFT172):c.4312-4dup
|
|
|
NM_015662.3(IFT172):c.435A>G (p.Ser145=)
|
|
|
NM_015662.3(IFT172):c.4374C>T (p.Ser1458=)
|
|
|
NM_015662.3(IFT172):c.4387T>C (p.Leu1463=)
|
rs1455837031
|
|
NM_015662.3(IFT172):c.4413C>T (p.Ala1471=)
|
|
|
NM_015662.3(IFT172):c.4428+15C>T
|
|
|
NM_015662.3(IFT172):c.4449G>A (p.Arg1483=)
|
|
|
NM_015662.3(IFT172):c.4476T>C (p.Pro1492=)
|
|
|
NM_015662.3(IFT172):c.4485C>T (p.Asn1495=)
|
|
|
NM_015662.3(IFT172):c.4491C>G (p.Ala1497=)
|
rs774451726
|
|
NM_015662.3(IFT172):c.4521A>C (p.Arg1507=)
|
rs1244568496
|
|
NM_015662.3(IFT172):c.4530C>T (p.Leu1510=)
|
|
|
NM_015662.3(IFT172):c.4536C>T (p.Asn1512=)
|
|
|
NM_015662.3(IFT172):c.4540-15G>A
|
|
|
NM_015662.3(IFT172):c.4554G>A (p.Val1518=)
|
|
|
NM_015662.3(IFT172):c.4590G>A (p.Glu1530=)
|
|
|
NM_015662.3(IFT172):c.4593C>G (p.Phe1531Leu)
|
rs540171862
|
|
NM_015662.3(IFT172):c.4599G>A (p.Thr1533=)
|
|
|
NM_015662.3(IFT172):c.4617T>C (p.His1539=)
|
rs1266021624
|
|
NM_015662.3(IFT172):c.4659+16T>A
|
rs143060452
|
|
NM_015662.3(IFT172):c.4660-5C>T
|
|
|
NM_015662.3(IFT172):c.4668G>T (p.Val1556=)
|
|
|
NM_015662.3(IFT172):c.4692C>T (p.Leu1564=)
|
|
|
NM_015662.3(IFT172):c.4743C>G (p.Gly1581=)
|
|
|
NM_015662.3(IFT172):c.4749T>A (p.Ala1583=)
|
rs1160368460
|
|
NM_015662.3(IFT172):c.4755+20G>C
|
|
|
NM_015662.3(IFT172):c.4755+9G>A
|
rs375261962
|
|
NM_015662.3(IFT172):c.4756-13T>C
|
|
|
NM_015662.3(IFT172):c.4756-15T>A
|
|
|
NM_015662.3(IFT172):c.4756-17A>C
|
|
|
NM_015662.3(IFT172):c.4756-17A>T
|
rs753517897
|
|
NM_015662.3(IFT172):c.4756-20G>C
|
|
|
NM_015662.3(IFT172):c.4756-20G>T
|
|
|
NM_015662.3(IFT172):c.4756-5T>C
|
|
|
NM_015662.3(IFT172):c.4756-6C>G
|
|
|
NM_015662.3(IFT172):c.4756-9T>G
|
|
|
NM_015662.3(IFT172):c.4812C>G (p.Thr1604=)
|
rs369400518
|
|
NM_015662.3(IFT172):c.4812C>T (p.Thr1604=)
|
rs369400518
|
|
NM_015662.3(IFT172):c.4815+10G>A
|
rs759461544
|
|
NM_015662.3(IFT172):c.4815+10del
|
|
|
NM_015662.3(IFT172):c.4815+12A>G
|
rs774356097
|
|
NM_015662.3(IFT172):c.4815+16G>C
|
rs1296172696
|
|
NM_015662.3(IFT172):c.4815+20C>G
|
|
|
NM_015662.3(IFT172):c.4816-5T>C
|
|
|
NM_015662.3(IFT172):c.4816-9_4816-8del
|
rs777369595
|
|
NM_015662.3(IFT172):c.482+10G>C
|
|
|
NM_015662.3(IFT172):c.482+16T>G
|
|
|
NM_015662.3(IFT172):c.482+9A>G
|
|
|
NM_015662.3(IFT172):c.483-19C>T
|
|
|
NM_015662.3(IFT172):c.483-4T>C
|
rs1668525396
|
|
NM_015662.3(IFT172):c.483-7T>C
|
|
|
NM_015662.3(IFT172):c.483-9C>T
|
|
|
NM_015662.3(IFT172):c.4842C>T (p.Gly1614=)
|
|
|
NM_015662.3(IFT172):c.4851C>T (p.His1617=)
|
|
|
NM_015662.3(IFT172):c.4902G>A (p.Lys1634=)
|
|
|
NM_015662.3(IFT172):c.4914+13G>T
|
rs867633277
|
|
NM_015662.3(IFT172):c.4914+20A>G
|
|
|
NM_015662.3(IFT172):c.4914+7G>A
|
|
|
NM_015662.3(IFT172):c.4915-16T>A
|
|
|
NM_015662.3(IFT172):c.4915-5T>C
|
|
|
NM_015662.3(IFT172):c.4915-5T>G
|
|
|
NM_015662.3(IFT172):c.4950T>G (p.Leu1650=)
|
rs1238278691
|
|
NM_015662.3(IFT172):c.4960A>G (p.Met1654Val)
|
rs529850410
|
|
NM_015662.3(IFT172):c.5049C>G (p.Ala1683=)
|
rs1285975087
|
|
NM_015662.3(IFT172):c.5068+14C>T
|
|
|
NM_015662.3(IFT172):c.5069-20C>A
|
|
|
NM_015662.3(IFT172):c.5082G>C (p.Leu1694=)
|
|
|
NM_015662.3(IFT172):c.5106G>A (p.Arg1702=)
|
rs2148464737
|
|
NM_015662.3(IFT172):c.5142A>G (p.Lys1714=)
|
|
|
NM_015662.3(IFT172):c.5154C>T (p.Ala1718=)
|
|
|
NM_015662.3(IFT172):c.5160+12_5160+14del
|
|
|
NM_015662.3(IFT172):c.5160+13G>A
|
rs1185416215
|
|
NM_015662.3(IFT172):c.5160+14A>G
|
|
|
NM_015662.3(IFT172):c.5160+15C>T
|
|
|
NM_015662.3(IFT172):c.5160+16T>G
|
|
|
NM_015662.3(IFT172):c.5161-5C>G
|
|
|
NM_015662.3(IFT172):c.5161-5C>T
|
|
|
NM_015662.3(IFT172):c.525C>T (p.Thr175=)
|
|
|
NM_015662.3(IFT172):c.528C>T (p.Ile176=)
|
|
|
NM_015662.3(IFT172):c.549T>C (p.Asp183=)
|
|
|
NM_015662.3(IFT172):c.555C>G (p.Gly185=)
|
rs750613450
|
|
NM_015662.3(IFT172):c.555C>T (p.Gly185=)
|
rs750613450
|
|
NM_015662.3(IFT172):c.570+14A>C
|
|
|
NM_015662.3(IFT172):c.570+19G>C
|
rs761066634
|
|
NM_015662.3(IFT172):c.571-12C>T
|
rs2148550539
|
|
NM_015662.3(IFT172):c.571-17C>T
|
|
|
NM_015662.3(IFT172):c.571-18C>T
|
|
|
NM_015662.3(IFT172):c.571-7G>C
|
|
|
NM_015662.3(IFT172):c.597A>G (p.Pro199=)
|
|
|
NM_015662.3(IFT172):c.630C>T (p.Ile210=)
|
|
|
NM_015662.3(IFT172):c.726G>A (p.Glu242=)
|
|
|
NM_015662.3(IFT172):c.729C>T (p.Phe243=)
|
|
|
NM_015662.3(IFT172):c.738T>C (p.Ala246=)
|
rs1365791183
|
|
NM_015662.3(IFT172):c.756C>G (p.Gly252=)
|
|
|
NM_015662.3(IFT172):c.785+16A>G
|
|
|
NM_015662.3(IFT172):c.786-18C>G
|
rs773491435
|
|
NM_015662.3(IFT172):c.786-18C>T
|
|
|
NM_015662.3(IFT172):c.813A>G (p.Arg271=)
|
|
|
NM_015662.3(IFT172):c.834A>G (p.Ala278=)
|
rs1221821042
|
|
NM_015662.3(IFT172):c.843G>A (p.Lys281=)
|
rs1668252791
|
|
NM_015662.3(IFT172):c.894C>T (p.Gly298=)
|
rs2148547913
|
|
NM_015662.3(IFT172):c.909+17C>A
|
rs376213191
|
|
NM_015662.3(IFT172):c.909+17C>G
|
|
|
NM_015662.3(IFT172):c.910-20G>A
|
|
|
NM_015662.3(IFT172):c.910-8C>T
|
|
|
NM_015662.3(IFT172):c.933A>G (p.Glu311=)
|
|
|
NM_015662.3(IFT172):c.984G>A (p.Leu328=)
|
|
|
NM_015693.4(INTU):c.1450-9T>G
|
rs73847044
|
|
NM_015693.4(INTU):c.683-16G>C
|
rs56223823
|
|
NM_018051.5(DYNC2I1):c.1059+17T>G
|
|
|
NM_018051.5(DYNC2I1):c.1059+18T>C
|
|
|
NM_018051.5(DYNC2I1):c.1060-18T>C
|
|
|
NM_018051.5(DYNC2I1):c.1113A>T (p.Thr371=)
|
|
|
NM_018051.5(DYNC2I1):c.1137+9A>G
|
|
|
NM_018051.5(DYNC2I1):c.1203A>C (p.Ser401=)
|
|
|
NM_018051.5(DYNC2I1):c.1357+11C>A
|
rs201588197
|
|
NM_018051.5(DYNC2I1):c.1358-20T>C
|
|
|
NM_018051.5(DYNC2I1):c.1416A>C (p.Ser472=)
|
rs1425014206
|
|
NM_018051.5(DYNC2I1):c.1460+10T>C
|
rs768563970
|
|
NM_018051.5(DYNC2I1):c.15+12G>C
|
|
|
NM_018051.5(DYNC2I1):c.15+12G>T
|
rs922864274
|
|
NM_018051.5(DYNC2I1):c.15+8C>T
|
|
|
NM_018051.5(DYNC2I1):c.1584C>G (p.Thr528=)
|
|
|
NM_018051.5(DYNC2I1):c.1590+11G>A
|
|
|
NM_018051.5(DYNC2I1):c.1591-9G>T
|
|
|
NM_018051.5(DYNC2I1):c.1593A>G (p.Ala531=)
|
rs2129484908
|
|
NM_018051.5(DYNC2I1):c.16-13C>T
|
rs2129477304
|
|
NM_018051.5(DYNC2I1):c.1605T>C (p.Cys535=)
|
|
|
NM_018051.5(DYNC2I1):c.1614T>C (p.Asp538=)
|
|
|
NM_018051.5(DYNC2I1):c.1638G>A (p.Thr546=)
|
|
|
NM_018051.5(DYNC2I1):c.1656G>A (p.Arg552=)
|
|
|
NM_018051.5(DYNC2I1):c.1680A>G (p.Gly560=)
|
|
|
NM_018051.5(DYNC2I1):c.1702+13T>C
|
|
|
NM_018051.5(DYNC2I1):c.1703-11G>T
|
rs1349093711
|
|
NM_018051.5(DYNC2I1):c.1755T>C (p.Thr585=)
|
rs372205758
|
|
NM_018051.5(DYNC2I1):c.1776G>A (p.Leu592=)
|
|
|
NM_018051.5(DYNC2I1):c.1792-19A>T
|
|
|
NM_018051.5(DYNC2I1):c.180C>G (p.Pro60=)
|
rs754304837
|
|
NM_018051.5(DYNC2I1):c.180C>T (p.Pro60=)
|
|
|
NM_018051.5(DYNC2I1):c.1839C>T (p.Ser613=)
|
rs1848734445
|
|
NM_018051.5(DYNC2I1):c.1848T>C (p.Leu616=)
|
|
|
NM_018051.5(DYNC2I1):c.1902C>T (p.Thr634=)
|
|
|
NM_018051.5(DYNC2I1):c.1911A>G (p.Pro637=)
|
|
|
NM_018051.5(DYNC2I1):c.1911A>T (p.Pro637=)
|
|
|
NM_018051.5(DYNC2I1):c.1921+18A>C
|
|
|
NM_018051.5(DYNC2I1):c.1921+8G>T
|
|
|
NM_018051.5(DYNC2I1):c.1962G>A (p.Arg654=)
|
|
|
NM_018051.5(DYNC2I1):c.1992C>T (p.Pro664=)
|
|
|
NM_018051.5(DYNC2I1):c.2061A>G (p.Ser687=)
|
|
|
NM_018051.5(DYNC2I1):c.2091C>T (p.Ser697=)
|
|
|
NM_018051.5(DYNC2I1):c.2094+12G>C
|
|
|
NM_018051.5(DYNC2I1):c.2095-7C>T
|
|
|
NM_018051.5(DYNC2I1):c.2139T>C (p.Phe713=)
|
|
|
NM_018051.5(DYNC2I1):c.2142C>T (p.Ala714=)
|
|
|
NM_018051.5(DYNC2I1):c.2211G>A (p.Thr737=)
|
|
|
NM_018051.5(DYNC2I1):c.2217C>T (p.Ser739=)
|
|
|
NM_018051.5(DYNC2I1):c.2232G>A (p.Thr744=)
|
|
|
NM_018051.5(DYNC2I1):c.2232G>T (p.Thr744=)
|
rs751401798
|
|
NM_018051.5(DYNC2I1):c.2241C>T (p.Thr747=)
|
|
|
NM_018051.5(DYNC2I1):c.2247G>C (p.Thr749=)
|
|
|
NM_018051.5(DYNC2I1):c.225C>T (p.Thr75=)
|
|
|
NM_018051.5(DYNC2I1):c.2310T>A (p.Pro770=)
|
|
|
NM_018051.5(DYNC2I1):c.2334G>A (p.Lys778=)
|
|
|
NM_018051.5(DYNC2I1):c.2371+16C>T
|
|
|
NM_018051.5(DYNC2I1):c.2372-21_2372-18del
|
|
|
NM_018051.5(DYNC2I1):c.2427T>C (p.Asn809=)
|
|
|
NM_018051.5(DYNC2I1):c.2433+20G>A
|
|
|
NM_018051.5(DYNC2I1):c.2433+7_2433+10dup
|
|
|
NM_018051.5(DYNC2I1):c.2434-11del
|
|
|
NM_018051.5(DYNC2I1):c.2434-19T>C
|
|
|
NM_018051.5(DYNC2I1):c.2439T>G (p.Val813=)
|
|
|
NM_018051.5(DYNC2I1):c.2457A>G (p.Ala819=)
|
|
|
NM_018051.5(DYNC2I1):c.2485+16A>G
|
|
|
NM_018051.5(DYNC2I1):c.2486-4T>G
|
|
|
NM_018051.5(DYNC2I1):c.2547-10_2547-6del
|
rs1850505967
|
|
NM_018051.5(DYNC2I1):c.2568A>G (p.Glu856=)
|
|
|
NM_018051.5(DYNC2I1):c.2583A>G (p.Thr861=)
|
|
|
NM_018051.5(DYNC2I1):c.2637C>T (p.Gly879=)
|
|
|
NM_018051.5(DYNC2I1):c.2646+9T>C
|
|
|
NM_018051.5(DYNC2I1):c.2647-8C>T
|
|
|
NM_018051.5(DYNC2I1):c.2694A>G (p.Lys898=)
|
rs2129487917
|
|
NM_018051.5(DYNC2I1):c.2695C>T (p.Leu899=)
|
|
|
NM_018051.5(DYNC2I1):c.2778+17_2778+18del
|
|
|
NM_018051.5(DYNC2I1):c.2779-5C>T
|
|
|
NM_018051.5(DYNC2I1):c.2790G>A (p.Ser930=)
|
|
|
NM_018051.5(DYNC2I1):c.2856G>A (p.Thr952=)
|
|
|
NM_018051.5(DYNC2I1):c.2874C>T (p.Thr958=)
|
|
|
NM_018051.5(DYNC2I1):c.2937C>T (p.Ile979=)
|
|
|
NM_018051.5(DYNC2I1):c.2961C>T (p.Ser987=)
|
|
|
NM_018051.5(DYNC2I1):c.3003-13C>T
|
|
|
NM_018051.5(DYNC2I1):c.3006G>A (p.Leu1002=)
|
|
|
NM_018051.5(DYNC2I1):c.300G>A (p.Glu100=)
|
|
|
NM_018051.5(DYNC2I1):c.303A>G (p.Lys101=)
|
|
|
NM_018051.5(DYNC2I1):c.3078G>A (p.Ala1026=)
|
|
|
NM_018051.5(DYNC2I1):c.3088A>G (p.Ile1030Val)
|
|
|
NM_018051.5(DYNC2I1):c.3105G>C (p.Leu1035=)
|
rs1585268610
|
|
NM_018051.5(DYNC2I1):c.3147G>A (p.Arg1049=)
|
|
|
NM_018051.5(DYNC2I1):c.351A>G (p.Arg117=)
|
|
|
NM_018051.5(DYNC2I1):c.411C>G (p.Thr137=)
|
|
|
NM_018051.5(DYNC2I1):c.457C>T (p.Leu153Phe)
|
|
|
NM_018051.5(DYNC2I1):c.471G>A (p.Ala157=)
|
rs375082266
|
|
NM_018051.5(DYNC2I1):c.471G>C (p.Ala157=)
|
rs375082266
|
|
NM_018051.5(DYNC2I1):c.490+11G>A
|
rs530105342
|
|
NM_018051.5(DYNC2I1):c.490+11G>T
|
rs530105342
|
|
NM_018051.5(DYNC2I1):c.491-10C>T
|
|
|
NM_018051.5(DYNC2I1):c.491-17T>C
|
|
|
NM_018051.5(DYNC2I1):c.573+14G>A
|
|
|
NM_018051.5(DYNC2I1):c.574-11G>A
|
|
|
NM_018051.5(DYNC2I1):c.574-9G>A
|
|
|
NM_018051.5(DYNC2I1):c.600C>T (p.Asn200=)
|
|
|
NM_018051.5(DYNC2I1):c.606C>G (p.Leu202=)
|
|
|
NM_018051.5(DYNC2I1):c.672C>T (p.Asp224=)
|
|
|
NM_018051.5(DYNC2I1):c.69+15G>A
|
|
|
NM_018051.5(DYNC2I1):c.69+7A>G
|
rs1554441632
|
|
NM_018051.5(DYNC2I1):c.70-20C>A
|
|
|
NM_018051.5(DYNC2I1):c.705A>G (p.Glu235=)
|
|
|
NM_018051.5(DYNC2I1):c.879+10C>G
|
|
|
NM_018051.5(DYNC2I1):c.879+11_879+19del
|
|
|
NM_018051.5(DYNC2I1):c.879+17T>C
|
|
|
NM_018051.5(DYNC2I1):c.879+19C>T
|
|
|
NM_018051.5(DYNC2I1):c.879+20G>A
|
|
|
NM_018051.5(DYNC2I1):c.900A>G (p.Arg300=)
|
|
|
NM_018051.5(DYNC2I1):c.902G>T (p.Gly301Val)
|
rs140596100
|
|
NM_018051.5(DYNC2I1):c.936-16T>G
|
|
|
NM_018051.5(DYNC2I1):c.990+15A>G
|
|
|
NM_018051.5(DYNC2I1):c.991-13C>A
|
rs2129482378
|
|
NM_020779.4(WDR35):c.*573A>T
|
rs140069324
|
|
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.105T>C (p.Asp35=)
|
|
|
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.1302G>A (p.Ser434=)
|
|
|
NM_020779.4(WDR35):c.1354T>C (p.Leu452=)
|
|
|
NM_020779.4(WDR35):c.1400+17A>G
|
|
|
NM_020779.4(WDR35):c.1401-11C>A
|
|
|
NM_020779.4(WDR35):c.1401-11C>G
|
|
|
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.1527T>C (p.Gly509=)
|
|
|
NM_020779.4(WDR35):c.1635-19C>T
|
|
|
NM_020779.4(WDR35):c.1674C>T (p.Phe558=)
|
|
|
NM_020779.4(WDR35):c.1698G>A (p.Thr566=)
|
rs773559585
|
|
NM_020779.4(WDR35):c.1732T>C (p.Leu578=)
|
|
|
NM_020779.4(WDR35):c.1834T>C (p.Leu612=)
|
|
|
NM_020779.4(WDR35):c.1846-5T>C
|
rs2103410724
|
|
NM_020779.4(WDR35):c.1860C>T (p.Thr620=)
|
rs1572333836
|
|
NM_020779.4(WDR35):c.1950T>C (p.Asp650=)
|
rs2103406174
|
|
NM_020779.4(WDR35):c.2013A>C (p.Gly671=)
|
rs2103406014
|
|
NM_020779.4(WDR35):c.2063+7A>T
|
|
|
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.2202T>C (p.Ala734=)
|
|
|
NM_020779.4(WDR35):c.2247G>T (p.Thr749=)
|
|
|
NM_020779.4(WDR35):c.2253C>T (p.Leu751=)
|
|
|
NM_020779.4(WDR35):c.2267+15C>T
|
rs1374046467
|
|
NM_020779.4(WDR35):c.2385T>C (p.Ile795=)
|
|
|
NM_020779.4(WDR35):c.2430A>G (p.Gln810=)
|
|
|
NM_020779.4(WDR35):c.2446C>A (p.Arg816=)
|
rs374027943
|
|
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.2568C>T (p.Val856=)
|
|
|
NM_020779.4(WDR35):c.2622A>C (p.Pro874=)
|
rs766138190
|
|
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.2760T>A (p.Leu920=)
|
rs1405610639
|
|
NM_020779.4(WDR35):c.2838G>A (p.Glu946=)
|
|
|
NM_020779.4(WDR35):c.2844G>A (p.Lys948=)
|
|
|
NM_020779.4(WDR35):c.288T>C (p.Ile96=)
|
|
|
NM_020779.4(WDR35):c.2913T>C (p.His971=)
|
rs561223092
|
|
NM_020779.4(WDR35):c.2964+13G>A
|
rs557213514
|
|
NM_020779.4(WDR35):c.2964+14T>A
|
|
|
NM_020779.4(WDR35):c.2965-20T>C
|
|
|
NM_020779.4(WDR35):c.2965-5C>T
|
|
|
NM_020779.4(WDR35):c.2994A>G (p.Glu998=)
|
rs2103396034
|
|
NM_020779.4(WDR35):c.3003T>A (p.Val1001=)
|
|
|
NM_020779.4(WDR35):c.30C>T (p.Ser10=)
|
rs1672670437
|
|
NM_020779.4(WDR35):c.3121+10T>C
|
|
|
NM_020779.4(WDR35):c.3122-16G>C
|
|
|
NM_020779.4(WDR35):c.3213G>A (p.Gly1071=)
|
|
|
NM_020779.4(WDR35):c.3267A>G (p.Glu1089=)
|
|
|
NM_020779.4(WDR35):c.333C>T (p.Asn111=)
|
|
|
NM_020779.4(WDR35):c.3363-10C>T
|
|
|
NM_020779.4(WDR35):c.3363-11C>A
|
rs2103377636
|
|
NM_020779.4(WDR35):c.3396A>G (p.Thr1132=)
|
|
|
NM_020779.4(WDR35):c.436+18C>T
|
|
|
NM_020779.4(WDR35):c.437-15_437-13del
|
|
|
NM_020779.4(WDR35):c.489A>G (p.Thr163=)
|
|
|
NM_020779.4(WDR35):c.498G>A (p.Ala166=)
|
|
|
NM_020779.4(WDR35):c.570+20A>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.732C>T (p.Asp244=)
|
|
|
NM_020779.4(WDR35):c.81G>A (p.Gly27=)
|
rs1303835293
|
|
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.946C>T (p.Leu316=)
|
rs1671968631
|
|
NM_020800.3(IFT80):c.1038C>T (p.His346=)
|
|
|
NM_020800.3(IFT80):c.1068C>T (p.Tyr356=)
|
|
|
NM_020800.3(IFT80):c.1080G>A (p.Thr360=)
|
|
|
NM_020800.3(IFT80):c.1086C>T (p.Asn362=)
|
|
|
NM_020800.3(IFT80):c.1140G>T (p.Leu380=)
|
|
|
NM_020800.3(IFT80):c.1152-13C>A
|
|
|
NM_020800.3(IFT80):c.1152-7T>G
|
|
|
NM_020800.3(IFT80):c.1167A>G (p.Val389=)
|
rs2108267310
|
|
NM_020800.3(IFT80):c.1200A>G (p.Glu400=)
|
rs2108267274
|
|
NM_020800.3(IFT80):c.1215A>C (p.Ser405=)
|
|
|
NM_020800.3(IFT80):c.1224A>G (p.Lys408=)
|
rs2108267227
|
|
NM_020800.3(IFT80):c.1281T>C (p.Asp427=)
|
rs1716376329
|
|
NM_020800.3(IFT80):c.12G>A (p.Lys4=)
|
|
|
NM_020800.3(IFT80):c.1315+10_1315+17dup
|
|
|
NM_020800.3(IFT80):c.1315+14T>C
|
|
|
NM_020800.3(IFT80):c.1315+17A>G
|
rs971761468
|
|
NM_020800.3(IFT80):c.1320C>T (p.Ile440=)
|
rs746090893
|
|
NM_020800.3(IFT80):c.1326C>G (p.Leu442=)
|
rs886058131
|
|
NM_020800.3(IFT80):c.1350G>C (p.Pro450=)
|
rs201146135
|
|
NM_020800.3(IFT80):c.1380+10A>G
|
rs1256481351
|
|
NM_020800.3(IFT80):c.1380+12T>A
|
|
|
NM_020800.3(IFT80):c.1380+15C>T
|
|
|
NM_020800.3(IFT80):c.1381-20A>C
|
|
|
NM_020800.3(IFT80):c.1381-9A>C
|
|
|
NM_020800.3(IFT80):c.141A>G (p.Thr47=)
|
|
|
NM_020800.3(IFT80):c.1473T>C (p.Thr491=)
|
|
|
NM_020800.3(IFT80):c.1516+18C>T
|
rs1714757221
|
|
NM_020800.3(IFT80):c.1517-10T>C
|
|
|
NM_020800.3(IFT80):c.1517-11T>C
|
|
|
NM_020800.3(IFT80):c.1517-9_1517-7del
|
rs2108231566
|
|
NM_020800.3(IFT80):c.1635G>A (p.Leu545=)
|
|
|
NM_020800.3(IFT80):c.1665-11T>C
|
rs2108229213
|
|
NM_020800.3(IFT80):c.1665-12T>A
|
rs908547988
|
|
NM_020800.3(IFT80):c.1689T>A (p.Ile563=)
|
|
|
NM_020800.3(IFT80):c.1738C>T (p.Leu580=)
|
rs750185428
|
|
NM_020800.3(IFT80):c.1761A>G (p.Pro587=)
|
|
|
NM_020800.3(IFT80):c.1797A>G (p.Ser599=)
|
rs2108228989
|
|
NM_020800.3(IFT80):c.1815G>A (p.Val605=)
|
|
|
NM_020800.3(IFT80):c.1818A>G (p.Arg606=)
|
|
|
NM_020800.3(IFT80):c.1836+20C>T
|
|
|
NM_020800.3(IFT80):c.1836+8A>G
|
|
|
NM_020800.3(IFT80):c.1837-13T>C
|
|
|
NM_020800.3(IFT80):c.1837-6_1837-2del
|
rs780412409
|
|
NM_020800.3(IFT80):c.1845C>T (p.Thr615=)
|
|
|
NM_020800.3(IFT80):c.189C>T (p.His63=)
|
|
|
NM_020800.3(IFT80):c.1926+11A>G
|
rs531201934
|
|
NM_020800.3(IFT80):c.1926+11A>T
|
|
|
NM_020800.3(IFT80):c.1926+13_1926+14inv
|
|
|
NM_020800.3(IFT80):c.2025T>G (p.Ala675=)
|
|
|
NM_020800.3(IFT80):c.2040T>A (p.Leu680=)
|
rs2108225990
|
|
NM_020800.3(IFT80):c.2043G>A (p.Gln681=)
|
|
|
NM_020800.3(IFT80):c.2050C>T (p.Leu684Phe)
|
|
|
NM_020800.3(IFT80):c.2061A>G (p.Gln687=)
|
|
|
NM_020800.3(IFT80):c.2073C>A (p.Ile691=)
|
rs1441275758
|
|
NM_020800.3(IFT80):c.2085C>A (p.Leu695=)
|
|
|
NM_020800.3(IFT80):c.2099+19A>C
|
rs539564457
|
|
NM_020800.3(IFT80):c.2100-13T>C
|
|
|
NM_020800.3(IFT80):c.2100-17T>C
|
|
|
NM_020800.3(IFT80):c.2103A>G (p.Ala701=)
|
|
|
NM_020800.3(IFT80):c.2223+11C>G
|
|
|
NM_020800.3(IFT80):c.2223+15A>G
|
|
|
NM_020800.3(IFT80):c.2223+20G>A
|
rs115849906
|
|
NM_020800.3(IFT80):c.2224-10del
|
rs58665245
|
|
NM_020800.3(IFT80):c.2224-13_2224-10del
|
rs58665245
|
|
NM_020800.3(IFT80):c.2224-18T>C
|
rs1300785034
|
|
NM_020800.3(IFT80):c.2224-20_2224-17del
|
|
|
NM_020800.3(IFT80):c.2224-20dup
|
rs397969922
|
|
NM_020800.3(IFT80):c.2224-7A>G
|
|
|
NM_020800.3(IFT80):c.2229A>G (p.Gln743=)
|
|
|
NM_020800.3(IFT80):c.2244A>G (p.Lys748=)
|
rs769905264
|
|
NM_020800.3(IFT80):c.2292A>G (p.Ser764=)
|
rs376683399
|
|
NM_020800.3(IFT80):c.2322T>C (p.Gly774=)
|
|
|
NM_020800.3(IFT80):c.24A>G (p.Leu8=)
|
|
|
NM_020800.3(IFT80):c.259+16_259+18del
|
rs2108404186
|
|
NM_020800.3(IFT80):c.260-14G>A
|
|
|
NM_020800.3(IFT80):c.260-4T>G
|
|
|
NM_020800.3(IFT80):c.260-8T>G
|
|
|
NM_020800.3(IFT80):c.282G>A (p.Lys94=)
|
rs548358266
|
|
NM_020800.3(IFT80):c.332C>T (p.Ala111Val)
|
rs557375681
|
|
NM_020800.3(IFT80):c.351A>G (p.Glu117=)
|
rs2108396942
|
|
NM_020800.3(IFT80):c.360A>G (p.Ala120=)
|
rs2108396922
|
|
NM_020800.3(IFT80):c.37+15C>T
|
rs1483835849
|
|
NM_020800.3(IFT80):c.37+16T>A
|
|
|
NM_020800.3(IFT80):c.370+20G>A
|
|
|
NM_020800.3(IFT80):c.38-17C>T
|
|
|
NM_020800.3(IFT80):c.38-9dup
|
|
|
NM_020800.3(IFT80):c.387A>G (p.Gln129=)
|
|
|
NM_020800.3(IFT80):c.396T>C (p.Ile132=)
|
|
|
NM_020800.3(IFT80):c.439+12A>C
|
|
|
NM_020800.3(IFT80):c.439+14T>C
|
|
|
NM_020800.3(IFT80):c.440-17C>A
|
|
|
NM_020800.3(IFT80):c.440-18T>C
|
|
|
NM_020800.3(IFT80):c.440-22_440-18del
|
|
|
NM_020800.3(IFT80):c.440-4A>G
|
|
|
NM_020800.3(IFT80):c.447A>G (p.Pro149=)
|
rs2108377944
|
|
NM_020800.3(IFT80):c.462G>C (p.Ala154=)
|
rs34182424
|
|
NM_020800.3(IFT80):c.483G>A (p.Lys161=)
|
rs886058133
|
|
NM_020800.3(IFT80):c.546G>A (p.Leu182=)
|
rs543233802
|
|
NM_020800.3(IFT80):c.549+7C>G
|
|
|
NM_020800.3(IFT80):c.550-14_550-12del
|
|
|
NM_020800.3(IFT80):c.550-18del
|
|
|
NM_020800.3(IFT80):c.550-4A>T
|
rs769891425
|
|
NM_020800.3(IFT80):c.60G>T (p.Val20=)
|
rs201088893
|
|
NM_020800.3(IFT80):c.639+10G>A
|
rs1027164775
|
|
NM_020800.3(IFT80):c.639+18T>C
|
|
|
NM_020800.3(IFT80):c.639+9T>A
|
|
|
NM_020800.3(IFT80):c.639+9T>C
|
rs968428120
|
|
NM_020800.3(IFT80):c.640-11T>C
|
|
|
NM_020800.3(IFT80):c.654C>T (p.Tyr218=)
|
|
|
NM_020800.3(IFT80):c.657C>T (p.Gly219=)
|
rs1195919168
|
|
NM_020800.3(IFT80):c.663A>G (p.Pro221=)
|
|
|
NM_020800.3(IFT80):c.727T>C (p.Leu243=)
|
rs2108360164
|
|
NM_020800.3(IFT80):c.744G>A (p.Ser248=)
|
rs779731718
|
|
NM_020800.3(IFT80):c.744G>T (p.Ser248=)
|
|
|
NM_020800.3(IFT80):c.759C>T (p.Arg253=)
|
rs2108360089
|
|
NM_020800.3(IFT80):c.777+16G>A
|
rs1462707815
|
|
NM_020800.3(IFT80):c.778-16G>T
|
|
|
NM_020800.3(IFT80):c.778-17T>G
|
|
|
NM_020800.3(IFT80):c.778-4C>T
|
rs760577994
|
|
NM_020800.3(IFT80):c.778-7C>T
|
rs1269497069
|
|
NM_020800.3(IFT80):c.810C>A (p.Gly270=)
|
rs752091335
|
|
NM_020800.3(IFT80):c.855T>C (p.Ala285=)
|
|
|
NM_020800.3(IFT80):c.873A>G (p.Gly291=)
|
|
|
NM_020800.3(IFT80):c.930A>G (p.Val310=)
|
|
|
NM_020800.3(IFT80):c.951C>T (p.Ala317=)
|
|
|
NM_020800.3(IFT80):c.957+17A>T
|
|
|
NM_020800.3(IFT80):c.957+20T>C
|
|
|
NM_020800.3(IFT80):c.957+8T>C
|
|
|
NM_020800.3(IFT80):c.958-15T>C
|
|
|
NM_020800.3(IFT80):c.958-8T>A
|
|
|
NM_020800.3(IFT80):c.999C>T (p.Phe333=)
|
rs765112290
|
|
NM_024753.5(TTC21B):c.1032G>A (p.Leu344=)
|
|
|
NM_024753.5(TTC21B):c.1080C>G (p.Ala360=)
|
|
|
NM_024753.5(TTC21B):c.1087+18A>G
|
rs1686833362
|
|
NM_024753.5(TTC21B):c.1088-12G>T
|
|
|
NM_024753.5(TTC21B):c.1088-13T>C
|
|
|
NM_024753.5(TTC21B):c.1088-18T>A
|
rs1487373774
|
|
NM_024753.5(TTC21B):c.1088-20T>A
|
|
|
NM_024753.5(TTC21B):c.1089A>T (p.Gly363=)
|
|
|
NM_024753.5(TTC21B):c.1119A>G (p.Gln373=)
|
|
|
NM_024753.5(TTC21B):c.1140G>A (p.Gln380=)
|
|
|
NM_024753.5(TTC21B):c.114C>T (p.Val38=)
|
rs34486024
|
|
NM_024753.5(TTC21B):c.1152A>G (p.Leu384=)
|
|
|
NM_024753.5(TTC21B):c.1173T>A (p.Ile391=)
|
|
|
NM_024753.5(TTC21B):c.1179A>G (p.Lys393=)
|
rs2105343710
|
|
NM_024753.5(TTC21B):c.1185+15_1185+19del
|
|
|
NM_024753.5(TTC21B):c.1266C>A (p.Val422=)
|
rs765883060
|
|
NM_024753.5(TTC21B):c.1302T>C (p.Pro434=)
|
|
|
NM_024753.5(TTC21B):c.1353T>C (p.Ile451=)
|
|
|
NM_024753.5(TTC21B):c.1362G>A (p.Glu454=)
|
|
|
NM_024753.5(TTC21B):c.1380A>T (p.Pro460=)
|
rs2105342870
|
|
NM_024753.5(TTC21B):c.1386+14G>A
|
|
|
NM_024753.5(TTC21B):c.1386+16A>G
|
|
|
NM_024753.5(TTC21B):c.1386+17C>T
|
|
|
NM_024753.5(TTC21B):c.1387-12del
|
rs2105336073
|
|
NM_024753.5(TTC21B):c.1387-17T>C
|
rs766567792
|
|
NM_024753.5(TTC21B):c.1389T>G (p.Pro463=)
|
|
|
NM_024753.5(TTC21B):c.141A>G (p.Thr47=)
|
|
|
NM_024753.5(TTC21B):c.1425G>A (p.Arg475=)
|
|
|
NM_024753.5(TTC21B):c.1443G>C (p.Leu481=)
|
|
|
NM_024753.5(TTC21B):c.1449T>C (p.Thr483=)
|
|
|
NM_024753.5(TTC21B):c.1449T>G (p.Thr483=)
|
|
|
NM_024753.5(TTC21B):c.1479A>G (p.Gln493=)
|
|
|
NM_024753.5(TTC21B):c.151+12T>G
|
|
|
NM_024753.5(TTC21B):c.151+19A>C
|
|
|
NM_024753.5(TTC21B):c.1512G>A (p.Leu504=)
|
rs192305930
|
|
NM_024753.5(TTC21B):c.1516+10A>G
|
rs2105335742
|
|
NM_024753.5(TTC21B):c.1516+12C>T
|
rs2105335740
|
|
NM_024753.5(TTC21B):c.1517-13T>C
|
|
|
NM_024753.5(TTC21B):c.1517-4T>C
|
|
|
NM_024753.5(TTC21B):c.1517-5A>C
|
rs769174542
|
|
NM_024753.5(TTC21B):c.1517-5A>T
|
|
|
NM_024753.5(TTC21B):c.1517-7T>C
|
|
|
NM_024753.5(TTC21B):c.152-17A>G
|
|
|
NM_024753.5(TTC21B):c.152-19T>C
|
|
|
NM_024753.5(TTC21B):c.1524T>C (p.Ile508=)
|
|
|
NM_024753.5(TTC21B):c.1527A>G (p.Glu509=)
|
|
|
NM_024753.5(TTC21B):c.1554C>T (p.Cys518=)
|
rs1686303328
|
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NM_024753.5(TTC21B):c.1578T>C (p.Ala526=)
|
rs573290536
|
|
NM_024753.5(TTC21B):c.1596A>C (p.Leu532=)
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|
NM_024753.5(TTC21B):c.162A>G (p.Gln54=)
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NM_024753.5(TTC21B):c.1677G>T (p.Val559=)
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|
NM_024753.5(TTC21B):c.168T>C (p.Ala56=)
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|
|
NM_024753.5(TTC21B):c.1848T>C (p.Arg616=)
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NM_024753.5(TTC21B):c.1866A>G (p.Glu622=)
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|
NM_024753.5(TTC21B):c.1899+15A>G
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NM_024753.5(TTC21B):c.1899+18T>A
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NM_024753.5(TTC21B):c.1900-16A>G
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NM_024753.5(TTC21B):c.1900-4A>G
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|
NM_024753.5(TTC21B):c.1902T>C (p.His634=)
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|
NM_024753.5(TTC21B):c.1932C>A (p.Ile644=)
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NM_024753.5(TTC21B):c.1932C>T (p.Ile644=)
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|
NM_024753.5(TTC21B):c.1953T>C (p.Ser651=)
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|
NM_024753.5(TTC21B):c.1956A>G (p.Glu652=)
|
rs1686129480
|
|
NM_024753.5(TTC21B):c.1962G>A (p.Val654=)
|
rs1559056688
|
|
NM_024753.5(TTC21B):c.1968T>A (p.Val656=)
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|
NM_024753.5(TTC21B):c.2052G>A (p.Gln684=)
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NM_024753.5(TTC21B):c.205G>T (p.Val69Leu)
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NM_024753.5(TTC21B):c.2095C>T (p.Leu699=)
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NM_024753.5(TTC21B):c.21+14_21+15insGGTGAGCT
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NM_024753.5(TTC21B):c.21+18_21+29del
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NM_024753.5(TTC21B):c.21+2TGAGCGGG[2]
|
rs59477041
|
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NM_024753.5(TTC21B):c.21+7G>T
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|
NM_024753.5(TTC21B):c.2136T>C (p.Phe712=)
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NM_024753.5(TTC21B):c.2138+18C>T
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NM_024753.5(TTC21B):c.2138+20C>T
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NM_024753.5(TTC21B):c.2139-14G>C
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NM_024753.5(TTC21B):c.2139-18T>C
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|
NM_024753.5(TTC21B):c.2160T>C (p.Ala720=)
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|
NM_024753.5(TTC21B):c.2172T>C (p.Ser724=)
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NM_024753.5(TTC21B):c.2181C>T (p.Leu727=)
|
rs1293610485
|
|
NM_024753.5(TTC21B):c.219T>C (p.Ser73=)
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NM_024753.5(TTC21B):c.22-16C>G
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NM_024753.5(TTC21B):c.22-16C>T
|
rs2105370679
|
|
NM_024753.5(TTC21B):c.22-20_22-19insAGACTTTGATTAA
|
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|
NM_024753.5(TTC21B):c.2211+14T>C
|
|
|
NM_024753.5(TTC21B):c.2211+20T>C
|
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|
NM_024753.5(TTC21B):c.2223C>T (p.Ala741=)
|
|
|
NM_024753.5(TTC21B):c.2241A>G (p.Gln747=)
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|
|
NM_024753.5(TTC21B):c.2322+8C>T
|
|
|
NM_024753.5(TTC21B):c.2323-17G>A
|
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|
NM_024753.5(TTC21B):c.2328C>T (p.Ile776=)
|
rs916756048
|
|
NM_024753.5(TTC21B):c.2355T>C (p.Thr785=)
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|
NM_024753.5(TTC21B):c.2385G>A (p.Leu795=)
|
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|
NM_024753.5(TTC21B):c.2391G>A (p.Glu797=)
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|
NM_024753.5(TTC21B):c.2404T>C (p.Leu802=)
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|
NM_024753.5(TTC21B):c.2409A>G (p.Lys803=)
|
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|
NM_024753.5(TTC21B):c.240C>T (p.Ala80=)
|
|
|
NM_024753.5(TTC21B):c.2415T>C (p.Tyr805=)
|
rs2105318229
|
|
NM_024753.5(TTC21B):c.2436T>C (p.Leu812=)
|
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|
NM_024753.5(TTC21B):c.2444C>G (p.Ala815Gly)
|
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|
NM_024753.5(TTC21B):c.2445T>C (p.Ala815=)
|
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|
NM_024753.5(TTC21B):c.2461+18G>A
|
rs2105318101
|
|
NM_024753.5(TTC21B):c.2462-12A>C
|
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NM_024753.5(TTC21B):c.2462-18_2462-17del
|
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|
NM_024753.5(TTC21B):c.2530A>G (p.Met844Val)
|
rs766811699
|
|
NM_024753.5(TTC21B):c.2544T>C (p.Gly848=)
|
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|
NM_024753.5(TTC21B):c.2553C>A (p.Ile851=)
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|
NM_024753.5(TTC21B):c.255T>G (p.Pro85=)
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|
NM_024753.5(TTC21B):c.2568+11T>C
|
rs2105313535
|
|
NM_024753.5(TTC21B):c.2568+15C>G
|
rs368590446
|
|
NM_024753.5(TTC21B):c.2568+8C>T
|
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NM_024753.5(TTC21B):c.2568+9A>T
|
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|
NM_024753.5(TTC21B):c.2569-10dup
|
rs144600502
|
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NM_024753.5(TTC21B):c.2569-15A>G
|
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NM_024753.5(TTC21B):c.2569-18T>G
|
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|
NM_024753.5(TTC21B):c.2616G>A (p.Gln872=)
|
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|
NM_024753.5(TTC21B):c.262+19A>G
|
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|
NM_024753.5(TTC21B):c.2622T>C (p.Asp874=)
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|
NM_024753.5(TTC21B):c.2628T>C (p.Val876=)
|
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|
NM_024753.5(TTC21B):c.263-13T>C
|
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|
NM_024753.5(TTC21B):c.263-16C>T
|
|
|
NM_024753.5(TTC21B):c.2655A>G (p.Glu885=)
|
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|
NM_024753.5(TTC21B):c.2658T>C (p.Ile886=)
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|
NM_024753.5(TTC21B):c.267A>G (p.Arg89=)
|
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|
NM_024753.5(TTC21B):c.2757+11T>C
|
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|
NM_024753.5(TTC21B):c.2757+14T>C
|
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|
NM_024753.5(TTC21B):c.2757+7A>G
|
|
|
NM_024753.5(TTC21B):c.2758-11T>C
|
rs968021831
|
|
NM_024753.5(TTC21B):c.2758-11T>G
|
rs968021831
|
|
NM_024753.5(TTC21B):c.2758-7T>C
|
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|
NM_024753.5(TTC21B):c.2772G>A (p.Leu924=)
|
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|
NM_024753.5(TTC21B):c.2790A>C (p.Ala930=)
|
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|
NM_024753.5(TTC21B):c.2799C>T (p.Asp933=)
|
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|
NM_024753.5(TTC21B):c.2815C>A (p.Arg939=)
|
rs151227843
|
|
NM_024753.5(TTC21B):c.2859T>C (p.Ala953=)
|
rs993825534
|
|
NM_024753.5(TTC21B):c.2868+11G>C
|
|
|
NM_024753.5(TTC21B):c.2869-12T>A
|
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|
NM_024753.5(TTC21B):c.2880T>C (p.Asp960=)
|
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|
NM_024753.5(TTC21B):c.2892A>G (p.Arg964=)
|
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|
NM_024753.5(TTC21B):c.291C>A (p.Ala97=)
|
rs1687531560
|
|
NM_024753.5(TTC21B):c.2946G>A (p.Lys982=)
|
|
|
NM_024753.5(TTC21B):c.2950+18G>T
|
rs2105301685
|
|
NM_024753.5(TTC21B):c.2950+8C>A
|
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|
NM_024753.5(TTC21B):c.2951-10T>C
|
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|
NM_024753.5(TTC21B):c.2951-13del
|
|
|
NM_024753.5(TTC21B):c.2982T>C (p.Asp994=)
|
rs1685169233
|
|
NM_024753.5(TTC21B):c.3003A>G (p.Lys1001=)
|
|
|
NM_024753.5(TTC21B):c.3006C>T (p.Leu1002=)
|
|
|
NM_024753.5(TTC21B):c.3021A>G (p.Arg1007=)
|
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|
NM_024753.5(TTC21B):c.3043C>T (p.Arg1015Cys)
|
|
|
NM_024753.5(TTC21B):c.3054A>G (p.Arg1018=)
|
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|
NM_024753.5(TTC21B):c.3061T>C (p.Leu1021=)
|
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|
NM_024753.5(TTC21B):c.3099T>C (p.Leu1033=)
|
|
|
NM_024753.5(TTC21B):c.3101+13A>G
|
|
|
NM_024753.5(TTC21B):c.3162C>T (p.Asp1054=)
|
rs1574070946
|
|
NM_024753.5(TTC21B):c.3186T>C (p.Asn1062=)
|
|
|
NM_024753.5(TTC21B):c.3246C>T (p.Asn1082=)
|
|
|
NM_024753.5(TTC21B):c.3263+17_3263+18del
|
|
|
NM_024753.5(TTC21B):c.3263+19T>A
|
|
|
NM_024753.5(TTC21B):c.3264-13T>C
|
rs754946168
|
|
NM_024753.5(TTC21B):c.3264-13T>G
|
rs754946168
|
|
NM_024753.5(TTC21B):c.3264-19T>G
|
rs775923873
|
|
NM_024753.5(TTC21B):c.3264-6A>G
|
rs1685082857
|
|
NM_024753.5(TTC21B):c.3279G>A (p.Lys1093=)
|
|
|
NM_024753.5(TTC21B):c.3294A>G (p.Gln1098=)
|
|
|
NM_024753.5(TTC21B):c.330C>T (p.Ala110=)
|
|
|
NM_024753.5(TTC21B):c.3378A>G (p.Glu1126=)
|
rs2105289408
|
|
NM_024753.5(TTC21B):c.3387C>T (p.Cys1129=)
|
rs781212439
|
|
NM_024753.5(TTC21B):c.3414T>C (p.Asn1138=)
|
rs2105289346
|
|
NM_024753.5(TTC21B):c.3453A>G (p.Ala1151=)
|
rs951636516
|
|
NM_024753.5(TTC21B):c.3460-12del
|
|
|
NM_024753.5(TTC21B):c.3474A>G (p.Pro1158=)
|
|
|
NM_024753.5(TTC21B):c.3481T>C (p.Leu1161=)
|
rs1457024463
|
|
NM_024753.5(TTC21B):c.3498T>C (p.Ala1166=)
|
rs2105284685
|
|
NM_024753.5(TTC21B):c.3498T>G (p.Ala1166=)
|
|
|
NM_024753.5(TTC21B):c.3510G>A (p.Leu1170=)
|
|
|
NM_024753.5(TTC21B):c.3516G>A (p.Gln1172=)
|
|
|
NM_024753.5(TTC21B):c.3522A>T (p.Pro1174=)
|
rs886218419
|
|
NM_024753.5(TTC21B):c.354A>G (p.Leu118=)
|
|
|
NM_024753.5(TTC21B):c.3624T>A (p.Ile1208=)
|
|
|
NM_024753.5(TTC21B):c.3627A>G (p.Gln1209=)
|
|
|
NM_024753.5(TTC21B):c.3642C>T (p.Asp1214=)
|
rs2105284441
|
|
NM_024753.5(TTC21B):c.3666G>A (p.Arg1222=)
|
|
|
NM_024753.5(TTC21B):c.3670C>T (p.Leu1224=)
|
|
|
NM_024753.5(TTC21B):c.3684+8A>C
|
rs373955678
|
|
NM_024753.5(TTC21B):c.3684+8A>G
|
rs373955678
|
|
NM_024753.5(TTC21B):c.3685-19G>A
|
|
|
NM_024753.5(TTC21B):c.3685-19_3685-18dup
|
|
|
NM_024753.5(TTC21B):c.3690C>T (p.Cys1230=)
|
|
|
NM_024753.5(TTC21B):c.3717C>T (p.Tyr1239=)
|
rs2105281091
|
|
NM_024753.5(TTC21B):c.3783C>T (p.Ser1261=)
|
rs755467705
|
|
NM_024753.5(TTC21B):c.3804A>G (p.Val1268=)
|
rs1684806310
|
|
NM_024753.5(TTC21B):c.3805+11C>T
|
rs2105280892
|
|
NM_024753.5(TTC21B):c.3805+13A>T
|
|
|
NM_024753.5(TTC21B):c.3805+15C>T
|
|
|
NM_024753.5(TTC21B):c.3805+20A>G
|
rs772796936
|
|
NM_024753.5(TTC21B):c.3805+9G>A
|
|
|
NM_024753.5(TTC21B):c.3806-17G>C
|
|
|
NM_024753.5(TTC21B):c.3846T>C (p.Tyr1282=)
|
|
|
NM_024753.5(TTC21B):c.384G>A (p.Arg128=)
|
|
|
NM_024753.5(TTC21B):c.3873+11A>C
|
|
|
NM_024753.5(TTC21B):c.3873+13A>G
|
|
|
NM_024753.5(TTC21B):c.3873+19A>G
|
|
|
NM_024753.5(TTC21B):c.3873+8C>T
|
|
|
NM_024753.5(TTC21B):c.3874-13_3874-10del
|
rs763460455
|
|
NM_024753.5(TTC21B):c.3874-16T>A
|
|
|
NM_024753.5(TTC21B):c.3874-19T>G
|
|
|
NM_024753.5(TTC21B):c.3892A>G (p.Thr1298Ala)
|
|
|
NM_024753.5(TTC21B):c.3906C>T (p.Ile1302=)
|
|
|
NM_024753.5(TTC21B):c.3909A>G (p.Arg1303=)
|
|
|
NM_024753.5(TTC21B):c.3912G>A (p.Lys1304=)
|
rs976520219
|
|
NM_024753.5(TTC21B):c.3939T>C (p.Ser1313=)
|
rs1060504949
|
|
NM_024753.5(TTC21B):c.3942A>G (p.Leu1314=)
|
rs2105274083
|
|
NM_024753.5(TTC21B):c.430-15T>C
|
|
|
NM_024753.5(TTC21B):c.432A>G (p.Gly144=)
|
|
|
NM_024753.5(TTC21B):c.541C>T (p.Leu181=)
|
|
|
NM_024753.5(TTC21B):c.543G>C (p.Leu181=)
|
|
|
NM_024753.5(TTC21B):c.544C>T (p.Leu182=)
|
rs2105363182
|
|
NM_024753.5(TTC21B):c.552+11G>C
|
rs1687431487
|
|
NM_024753.5(TTC21B):c.553-10C>T
|
|
|
NM_024753.5(TTC21B):c.553-13T>C
|
|
|
NM_024753.5(TTC21B):c.553-13del
|
rs749999474
|
|
NM_024753.5(TTC21B):c.553-19T>C
|
rs2105360690
|
|
NM_024753.5(TTC21B):c.553-5A>G
|
|
|
NM_024753.5(TTC21B):c.573C>T (p.Arg191=)
|
|
|
NM_024753.5(TTC21B):c.594G>A (p.Leu198=)
|
|
|
NM_024753.5(TTC21B):c.600T>C (p.Thr200=)
|
|
|
NM_024753.5(TTC21B):c.615C>T (p.Ile205=)
|
|
|
NM_024753.5(TTC21B):c.645T>C (p.Phe215=)
|
|
|
NM_024753.5(TTC21B):c.667C>T (p.Leu223=)
|
|
|
NM_024753.5(TTC21B):c.69A>G (p.Leu23=)
|
|
|
NM_024753.5(TTC21B):c.710+17T>C
|
|
|
NM_024753.5(TTC21B):c.710+9A>G
|
|
|
NM_024753.5(TTC21B):c.711-17A>G
|
|
|
NM_024753.5(TTC21B):c.723A>G (p.Gln241=)
|
|
|
NM_024753.5(TTC21B):c.735T>C (p.Asn245=)
|
|
|
NM_024753.5(TTC21B):c.768T>C (p.Tyr256=)
|
|
|
NM_024753.5(TTC21B):c.795+10A>G
|
rs2105348659
|
|
NM_024753.5(TTC21B):c.795+10del
|
rs1559068659
|
|
NM_024753.5(TTC21B):c.795+19_795+22del
|
rs2105348638
|
|
NM_024753.5(TTC21B):c.796-4T>C
|
|
|
NM_024753.5(TTC21B):c.796-6T>C
|
|
|
NM_024753.5(TTC21B):c.801C>T (p.Ser267=)
|
|
|
NM_024753.5(TTC21B):c.828A>G (p.Thr276=)
|
|
|
NM_024753.5(TTC21B):c.864C>T (p.Phe288=)
|
|
|
NM_024753.5(TTC21B):c.873T>C (p.Ile291=)
|
|
|
NM_024753.5(TTC21B):c.879C>G (p.Leu293=)
|
|
|
NM_024753.5(TTC21B):c.894+10C>G
|
|
|
NM_024753.5(TTC21B):c.894+17T>C
|
|
|
NM_024753.5(TTC21B):c.895-14T>A
|
|
|
NM_024753.5(TTC21B):c.895-17T>C
|
rs2105344934
|
|
NM_024753.5(TTC21B):c.909A>G (p.Gln303=)
|
|
|
NM_024753.5(TTC21B):c.918T>C (p.Leu306=)
|
|
|
NM_024753.5(TTC21B):c.933G>A (p.Thr311=)
|
|
|
NM_024753.5(TTC21B):c.945A>G (p.Arg315=)
|
|
|
NM_024753.5(TTC21B):c.96G>A (p.Arg32=)
|
rs1271448820
|
|
NM_024753.5(TTC21B):c.984A>G (p.Thr328=)
|
rs1574121074
|
|
NM_024753.5(TTC21B):c.990T>C (p.Leu330=)
|
rs2105344681
|
|
NM_024753.5(TTC21B):c.99T>C (p.Tyr33=)
|
|
|
NM_025132.4(WDR19):c.1002A>G (p.Leu334=)
|
|
|
NM_025132.4(WDR19):c.1014C>A (p.Thr338=)
|
|
|
NM_025132.4(WDR19):c.1038C>T (p.Phe346=)
|
|
|
NM_025132.4(WDR19):c.1041G>A (p.Leu347=)
|
rs2109326437
|
|
NM_025132.4(WDR19):c.1113C>T (p.Thr371=)
|
|
|
NM_025132.4(WDR19):c.1122C>T (p.Asn374=)
|
|
|
NM_025132.4(WDR19):c.1125T>G (p.Pro375=)
|
rs2109326804
|
|
NM_025132.4(WDR19):c.1134+16T>C
|
rs1729035687
|
|
NM_025132.4(WDR19):c.1135-11C>G
|
|
|
NM_025132.4(WDR19):c.1135-18C>T
|
rs187658795
|
|
NM_025132.4(WDR19):c.1249+16G>A
|
|
|
NM_025132.4(WDR19):c.1249+19G>T
|
|
|
NM_025132.4(WDR19):c.1249+9A>C
|
rs201377206
|
|
NM_025132.4(WDR19):c.1250-15T>C
|
|
|
NM_025132.4(WDR19):c.1250-8T>C
|
rs2109329675
|
|
NM_025132.4(WDR19):c.1261T>C (p.Leu421=)
|
|
|
NM_025132.4(WDR19):c.1269T>C (p.Asp423=)
|
rs2109329739
|
|
NM_025132.4(WDR19):c.1326A>C (p.Ala442=)
|
|
|
NM_025132.4(WDR19):c.1329T>G (p.Leu443=)
|
|
|
NM_025132.4(WDR19):c.1356+11T>G
|
rs2109329979
|
|
NM_025132.4(WDR19):c.1356+18G>A
|
|
|
NM_025132.4(WDR19):c.1357-13C>A
|
|
|
NM_025132.4(WDR19):c.1357-20T>C
|
|
|
NM_025132.4(WDR19):c.1365C>T (p.Ser455=)
|
rs571091734
|
|
NM_025132.4(WDR19):c.1366G>A (p.Glu456Lys)
|
rs539621646
|
|
NM_025132.4(WDR19):c.1380T>C (p.Ala460=)
|
|
|
NM_025132.4(WDR19):c.1400G>A (p.Arg467Gln)
|
|
|
NM_025132.4(WDR19):c.1428C>T (p.Cys476=)
|
rs267600148
|
|
NM_025132.4(WDR19):c.1431T>C (p.Arg477=)
|
rs2109332085
|
|
NM_025132.4(WDR19):c.1443T>C (p.His481=)
|
rs2109332130
|
|
NM_025132.4(WDR19):c.1446C>T (p.Ala482=)
|
|
|
NM_025132.4(WDR19):c.1467C>A (p.Ile489=)
|
|
|
NM_025132.4(WDR19):c.1479+15C>G
|
|
|
NM_025132.4(WDR19):c.1479+15C>T
|
|
|
NM_025132.4(WDR19):c.1479+17T>A
|
rs765060066
|
|
NM_025132.4(WDR19):c.1485T>G (p.Gly495=)
|
rs762372654
|
|
NM_025132.4(WDR19):c.1488C>A (p.Val496=)
|
rs868438531
|
|
NM_025132.4(WDR19):c.1518A>G (p.Gln506=)
|
|
|
NM_025132.4(WDR19):c.1521C>T (p.Phe507=)
|
|
|
NM_025132.4(WDR19):c.1530T>C (p.Asp510=)
|
rs2109349762
|
|
NM_025132.4(WDR19):c.153T>A (p.Ile51=)
|
rs2109743773
|
|
NM_025132.4(WDR19):c.1548T>C (p.Ser516=)
|
|
|
NM_025132.4(WDR19):c.1581C>G (p.Thr527=)
|
rs114689848
|
|
NM_025132.4(WDR19):c.1599T>C (p.Asp533=)
|
|
|
NM_025132.4(WDR19):c.1620T>C (p.Val540=)
|
|
|
NM_025132.4(WDR19):c.1629+13C>A
|
|
|
NM_025132.4(WDR19):c.1629+13C>T
|
|
|
NM_025132.4(WDR19):c.1630-9A>G
|
|
|
NM_025132.4(WDR19):c.164+20_164+32del
|
rs2109743866
|
|
NM_025132.4(WDR19):c.165-15T>C
|
|
|
NM_025132.4(WDR19):c.165-6T>A
|
rs1277161504
|
|
NM_025132.4(WDR19):c.1722T>A (p.Ile574=)
|
rs779309885
|
|
NM_025132.4(WDR19):c.1740G>A (p.Lys580=)
|
rs1730488801
|
|
NM_025132.4(WDR19):c.1746C>T (p.Tyr582=)
|
|
|
NM_025132.4(WDR19):c.1777+8A>G
|
|
|
NM_025132.4(WDR19):c.1778-11T>C
|
rs1730513628
|
|
NM_025132.4(WDR19):c.1778-4G>A
|
|
|
NM_025132.4(WDR19):c.1778-5T>C
|
|
|
NM_025132.4(WDR19):c.1782C>A (p.Ala594=)
|
rs776038917
|
|
NM_025132.4(WDR19):c.1791T>C (p.Ile597=)
|
rs2109358310
|
|
NM_025132.4(WDR19):c.1803C>T (p.Ser601=)
|
|
|
NM_025132.4(WDR19):c.1845T>C (p.Asn615=)
|
rs727504221
|
|
NM_025132.4(WDR19):c.1851G>A (p.Glu617=)
|
|
|
NM_025132.4(WDR19):c.1881A>T (p.Val627=)
|
rs2109358693
|
|
NM_025132.4(WDR19):c.18A>C (p.Ser6=)
|
|
|
NM_025132.4(WDR19):c.1902C>T (p.Thr634=)
|
|
|
NM_025132.4(WDR19):c.1982+14C>T
|
|
|
NM_025132.4(WDR19):c.1982+15A>G
|
|
|
NM_025132.4(WDR19):c.1983-10T>C
|
|
|
NM_025132.4(WDR19):c.1983-11T>C
|
|
|
NM_025132.4(WDR19):c.1983-15G>A
|
rs1730894233
|
|
NM_025132.4(WDR19):c.1983-18T>C
|
|
|
NM_025132.4(WDR19):c.1983-8_1983-7delinsAT
|
rs2109366689
|
|
NM_025132.4(WDR19):c.198A>G (p.Gly66=)
|
rs749815295
|
|
NM_025132.4(WDR19):c.198A>T (p.Gly66=)
|
rs749815295
|
|
NM_025132.4(WDR19):c.2013T>C (p.Ile671=)
|
|
|
NM_025132.4(WDR19):c.2022T>C (p.Asp674=)
|
|
|
NM_025132.4(WDR19):c.2031C>G (p.Ala677=)
|
|
|
NM_025132.4(WDR19):c.2056C>T (p.Leu686=)
|
|
|
NM_025132.4(WDR19):c.2076G>A (p.Glu692=)
|
rs1730908214
|
|
NM_025132.4(WDR19):c.2085C>T (p.Ile695=)
|
|
|
NM_025132.4(WDR19):c.2097G>A (p.Arg699=)
|
rs1730911570
|
|
NM_025132.4(WDR19):c.2133A>G (p.Glu711=)
|
|
|
NM_025132.4(WDR19):c.2142+8G>C
|
rs2109367377
|
|
NM_025132.4(WDR19):c.2154C>T (p.Asp718=)
|
|
|
NM_025132.4(WDR19):c.2166G>A (p.Leu722=)
|
|
|
NM_025132.4(WDR19):c.2193C>T (p.Asn731=)
|
|
|
NM_025132.4(WDR19):c.2235T>C (p.Cys745=)
|
|
|
NM_025132.4(WDR19):c.2254-14T>G
|
|
|
NM_025132.4(WDR19):c.2262G>A (p.Arg754=)
|
|
|
NM_025132.4(WDR19):c.2268A>G (p.Leu756=)
|
|
|
NM_025132.4(WDR19):c.2298A>G (p.Ala766=)
|
rs1217640132
|
|
NM_025132.4(WDR19):c.2363+15T>G
|
|
|
NM_025132.4(WDR19):c.2364-11T>A
|
|
|
NM_025132.4(WDR19):c.2364-16C>T
|
rs780933216
|
|
NM_025132.4(WDR19):c.2364-17T>G
|
|
|
NM_025132.4(WDR19):c.2364-4del
|
rs750106753
|
|
NM_025132.4(WDR19):c.2364-9T>G
|
|
|
NM_025132.4(WDR19):c.2370T>C (p.Asp790=)
|
rs1216157427
|
|
NM_025132.4(WDR19):c.2394T>C (p.Tyr798=)
|
|
|
NM_025132.4(WDR19):c.2415T>C (p.Asp805=)
|
rs2109393765
|
|
NM_025132.4(WDR19):c.2421+10G>C
|
rs760951645
|
|
NM_025132.4(WDR19):c.2422-13C>T
|
|
|
NM_025132.4(WDR19):c.243T>C (p.Leu81=)
|
rs1577832495
|
|
NM_025132.4(WDR19):c.2463C>T (p.Ser821=)
|
|
|
NM_025132.4(WDR19):c.2490G>T (p.Gly830=)
|
rs763965982
|
|
NM_025132.4(WDR19):c.2523C>G (p.Val841=)
|
|
|
NM_025132.4(WDR19):c.252C>A (p.Ala84=)
|
|
|
NM_025132.4(WDR19):c.2563-13T>G
|
rs2109406442
|
|
NM_025132.4(WDR19):c.2574A>G (p.Glu858=)
|
|
|
NM_025132.4(WDR19):c.2645+15C>G
|
rs150628352
|
|
NM_025132.4(WDR19):c.2645+15C>T
|
|
|
NM_025132.4(WDR19):c.2646-15G>A
|
|
|
NM_025132.4(WDR19):c.2646-16G>T
|
rs750485530
|
|
NM_025132.4(WDR19):c.2646-8C>T
|
rs1174650732
|
|
NM_025132.4(WDR19):c.2695T>C (p.Leu899=)
|
|
|
NM_025132.4(WDR19):c.2729+24_2729+33del
|
rs2109410637
|
|
NM_025132.4(WDR19):c.2729+9A>G
|
|
|
NM_025132.4(WDR19):c.2730-11T>C
|
rs1314348967
|
|
NM_025132.4(WDR19):c.2730-17G>C
|
rs1342106743
|
|
NM_025132.4(WDR19):c.2730-18T>A
|
|
|
NM_025132.4(WDR19):c.2781A>G (p.Val927=)
|
|
|
NM_025132.4(WDR19):c.2823T>C (p.Ala941=)
|
|
|
NM_025132.4(WDR19):c.282T>C (p.Asn94=)
|
|
|
NM_025132.4(WDR19):c.2841G>A (p.Glu947=)
|
|
|
NM_025132.4(WDR19):c.2876+10T>A
|
rs773692164
|
|
NM_025132.4(WDR19):c.2876+7_2876+8del
|
rs1033377235
|
|
NM_025132.4(WDR19):c.2876+8A>G
|
rs1560541195
|
|
NM_025132.4(WDR19):c.2877-13T>G
|
|
|
NM_025132.4(WDR19):c.2904G>A (p.Gly968=)
|
|
|
NM_025132.4(WDR19):c.291-17A>G
|
|
|
NM_025132.4(WDR19):c.2916G>A (p.Gln972=)
|
|
|
NM_025132.4(WDR19):c.2973C>T (p.Asn991=)
|
rs1163027841
|
|
NM_025132.4(WDR19):c.3001+15_3001+16del
|
|
|
NM_025132.4(WDR19):c.3001+17C>G
|
|
|
NM_025132.4(WDR19):c.3002-7G>T
|
rs1260291347
|
|
NM_025132.4(WDR19):c.3012C>T (p.Asp1004=)
|
|
|
NM_025132.4(WDR19):c.3043T>C (p.Leu1015=)
|
rs2109446432
|
|
NM_025132.4(WDR19):c.3048C>T (p.Tyr1016=)
|
|
|
NM_025132.4(WDR19):c.3075G>A (p.Gln1025=)
|
|
|
NM_025132.4(WDR19):c.3114+10T>C
|
rs2109446817
|
|
NM_025132.4(WDR19):c.3114+13C>T
|
|
|
NM_025132.4(WDR19):c.3114+15A>T
|
|
|
NM_025132.4(WDR19):c.3115-8C>T
|
|
|
NM_025132.4(WDR19):c.3162A>C (p.Ala1054=)
|
|
|
NM_025132.4(WDR19):c.3183+19A>C
|
rs2109452579
|
|
NM_025132.4(WDR19):c.3184-11T>C
|
|
|
NM_025132.4(WDR19):c.3184-14C>G
|
|
|
NM_025132.4(WDR19):c.3184-16dup
|
rs2109483001
|
|
NM_025132.4(WDR19):c.3184-7T>C
|
|
|
NM_025132.4(WDR19):c.3189T>G (p.Gly1063=)
|
|
|
NM_025132.4(WDR19):c.3216T>C (p.Asn1072=)
|
rs2109483274
|
|
NM_025132.4(WDR19):c.3258T>G (p.Pro1086=)
|
|
|
NM_025132.4(WDR19):c.3262-19A>G
|
|
|
NM_025132.4(WDR19):c.3288C>T (p.Tyr1096=)
|
|
|
NM_025132.4(WDR19):c.3306C>T (p.Tyr1102=)
|
|
|
NM_025132.4(WDR19):c.3327C>T (p.Ala1109=)
|
|
|
NM_025132.4(WDR19):c.333C>T (p.Phe111=)
|
|
|
NM_025132.4(WDR19):c.3358+15C>A
|
|
|
NM_025132.4(WDR19):c.3358+15C>G
|
|
|
NM_025132.4(WDR19):c.3358+15C>T
|
rs750722358
|
|
NM_025132.4(WDR19):c.3358+16G>C
|
|
|
NM_025132.4(WDR19):c.3358+18_3358+19del
|
|
|
NM_025132.4(WDR19):c.3358+19T>C
|
|
|
NM_025132.4(WDR19):c.3358+20del
|
|
|
NM_025132.4(WDR19):c.3359-13A>T
|
|
|
NM_025132.4(WDR19):c.3359-6T>C
|
|
|
NM_025132.4(WDR19):c.3406C>T (p.Leu1136=)
|
|
|
NM_025132.4(WDR19):c.3426A>G (p.Lys1142=)
|
|
|
NM_025132.4(WDR19):c.3432C>G (p.Pro1144=)
|
rs1225242307
|
|
NM_025132.4(WDR19):c.3483+14A>C
|
rs2109497563
|
|
NM_025132.4(WDR19):c.3483+19C>G
|
|
|
NM_025132.4(WDR19):c.3484-16A>G
|
|
|
NM_025132.4(WDR19):c.3516G>T (p.Gly1172=)
|
|
|
NM_025132.4(WDR19):c.3528C>T (p.Leu1176=)
|
|
|
NM_025132.4(WDR19):c.3555A>G (p.Lys1185=)
|
|
|
NM_025132.4(WDR19):c.3561A>G (p.Pro1187=)
|
|
|
NM_025132.4(WDR19):c.3565+15C>T
|
rs1456611735
|
|
NM_025132.4(WDR19):c.3565+16C>T
|
|
|
NM_025132.4(WDR19):c.3565+17A>G
|
|
|
NM_025132.4(WDR19):c.3566-17C>G
|
|
|
NM_025132.4(WDR19):c.3566-9C>T
|
rs2109514534
|
|
NM_025132.4(WDR19):c.3582G>A (p.Leu1194=)
|
|
|
NM_025132.4(WDR19):c.3609G>A (p.Arg1203=)
|
|
|
NM_025132.4(WDR19):c.3639C>T (p.Phe1213=)
|
|
|
NM_025132.4(WDR19):c.3684C>G (p.Ala1228=)
|
rs2109515183
|
|
NM_025132.4(WDR19):c.3716+17A>G
|
|
|
NM_025132.4(WDR19):c.3717-15G>A
|
|
|
NM_025132.4(WDR19):c.3723C>T (p.Pro1241=)
|
rs886660173
|
|
NM_025132.4(WDR19):c.3753T>G (p.Thr1251=)
|
|
|
NM_025132.4(WDR19):c.3762A>C (p.Pro1254=)
|
rs373260857
|
|
NM_025132.4(WDR19):c.3762A>G (p.Pro1254=)
|
rs373260857
|
|
NM_025132.4(WDR19):c.3828T>C (p.Tyr1276=)
|
|
|
NM_025132.4(WDR19):c.3840+13A>G
|
|
|
NM_025132.4(WDR19):c.3841-13A>T
|
|
|
NM_025132.4(WDR19):c.3841-15A>C
|
|
|
NM_025132.4(WDR19):c.3841-15A>G
|
rs368673192
|
|
NM_025132.4(WDR19):c.384A>G (p.Thr128=)
|
|
|
NM_025132.4(WDR19):c.3918-11C>T
|
|
|
NM_025132.4(WDR19):c.3918-15C>T
|
|
|
NM_025132.4(WDR19):c.3918-19del
|
rs2109526206
|
|
NM_025132.4(WDR19):c.3918-8del
|
rs748090823
|
|
NM_025132.4(WDR19):c.3942T>C (p.Cys1314=)
|
rs930966543
|
|
NM_025132.4(WDR19):c.3951T>C (p.Cys1317=)
|
rs564992065
|
|
NM_025132.4(WDR19):c.3961T>C (p.Leu1321=)
|
|
|
NM_025132.4(WDR19):c.406+14G>A
|
rs2109265002
|
|
NM_025132.4(WDR19):c.406+20A>G
|
|
|
NM_025132.4(WDR19):c.456G>T (p.Leu152=)
|
|
|
NM_025132.4(WDR19):c.462T>C (p.Ala154=)
|
rs2109283486
|
|
NM_025132.4(WDR19):c.513G>T (p.Thr171=)
|
rs754543019
|
|
NM_025132.4(WDR19):c.522+13C>A
|
|
|
NM_025132.4(WDR19):c.522+14G>A
|
|
|
NM_025132.4(WDR19):c.522+7C>T
|
|
|
NM_025132.4(WDR19):c.523-12T>C
|
|
|
NM_025132.4(WDR19):c.523-18A>G
|
|
|
NM_025132.4(WDR19):c.523-19G>A
|
rs2109295763
|
|
NM_025132.4(WDR19):c.558T>C (p.Phe186=)
|
|
|
NM_025132.4(WDR19):c.6+11T>A
|
|
|
NM_025132.4(WDR19):c.6+16A>G
|
|
|
NM_025132.4(WDR19):c.6+20C>T
|
|
|
NM_025132.4(WDR19):c.6+6_6+8del
|
rs748952637
|
|
NM_025132.4(WDR19):c.603+15C>G
|
|
|
NM_025132.4(WDR19):c.603+17A>C
|
|
|
NM_025132.4(WDR19):c.603+20C>G
|
|
|
NM_025132.4(WDR19):c.604-12del
|
|
|
NM_025132.4(WDR19):c.604-19T>C
|
|
|
NM_025132.4(WDR19):c.604-20C>G
|
rs2109299804
|
|
NM_025132.4(WDR19):c.654A>G (p.Glu218=)
|
|
|
NM_025132.4(WDR19):c.7-7T>A
|
|
|
NM_025132.4(WDR19):c.7-9del
|
|
|
NM_025132.4(WDR19):c.717-11C>G
|
rs1370589827
|
|
NM_025132.4(WDR19):c.717-13T>G
|
|
|
NM_025132.4(WDR19):c.717-19G>T
|
|
|
NM_025132.4(WDR19):c.717-4A>G
|
|
|
NM_025132.4(WDR19):c.75A>G (p.Ser25=)
|
rs1389886639
|
|
NM_025132.4(WDR19):c.768C>G (p.Val256=)
|
|
|
NM_025132.4(WDR19):c.768C>T (p.Val256=)
|
|
|
NM_025132.4(WDR19):c.798A>G (p.Gln266=)
|
rs1210144163
|
|
NM_025132.4(WDR19):c.890+10T>A
|
rs2109301637
|
|
NM_025132.4(WDR19):c.891-16C>G
|
|
|
NM_025132.4(WDR19):c.891-5T>C
|
|
|
NM_025132.4(WDR19):c.891-9G>C
|
rs1577896751
|
|
NM_025132.4(WDR19):c.918A>G (p.Leu306=)
|
|
|
NM_025132.4(WDR19):c.930T>C (p.Tyr310=)
|
rs2109322819
|
|
NM_025132.4(WDR19):c.961+88T>C
|
|
|
NM_025132.4(WDR19):c.962-12C>T
|
rs370663909
|
|
NM_025132.4(WDR19):c.962-7A>G
|
|
|
NM_025132.4(WDR19):c.99-16T>A
|
|
|
NM_052844.4(DYNC2I2):c.1045C>T (p.Leu349=)
|
rs747050698
|
|
NM_052844.4(DYNC2I2):c.1062G>A (p.Thr354=)
|
|
|
NM_052844.4(DYNC2I2):c.106_107delinsTT (p.Gly36Leu)
|
rs2132190369
|
|
NM_052844.4(DYNC2I2):c.1077G>A (p.Pro359=)
|
|
|
NM_052844.4(DYNC2I2):c.1089C>T (p.Ser363=)
|
|
|
NM_052844.4(DYNC2I2):c.1098T>C (p.Ala366=)
|
|
|
NM_052844.4(DYNC2I2):c.1125C>A (p.Pro375=)
|
|
|
NM_052844.4(DYNC2I2):c.1164C>T (p.Phe388=)
|
rs1860339417
|
|
NM_052844.4(DYNC2I2):c.1173C>T (p.His391=)
|
|
|
NM_052844.4(DYNC2I2):c.1176C>T (p.Gly392=)
|
|
|
NM_052844.4(DYNC2I2):c.1182C>T (p.Pro394=)
|
|
|
NM_052844.4(DYNC2I2):c.1214+8G>A
|
|
|
NM_052844.4(DYNC2I2):c.1215-10T>C
|
|
|
NM_052844.4(DYNC2I2):c.1215-15C>T
|
|
|
NM_052844.4(DYNC2I2):c.1215-18C>G
|
|
|
NM_052844.4(DYNC2I2):c.1215-6G>A
|
|
|
NM_052844.4(DYNC2I2):c.1215-7C>G
|
rs541309511
|
|
NM_052844.4(DYNC2I2):c.1215-7C>T
|
|
|
NM_052844.4(DYNC2I2):c.1242C>T (p.Asp414=)
|
|
|
NM_052844.4(DYNC2I2):c.1245G>A (p.Gly415=)
|
|
|
NM_052844.4(DYNC2I2):c.1251C>T (p.Val417=)
|
|
|
NM_052844.4(DYNC2I2):c.126C>T (p.Thr42=)
|
|
|
NM_052844.4(DYNC2I2):c.1275C>T (p.Ala425=)
|
|
|
NM_052844.4(DYNC2I2):c.1305C>G (p.Leu435=)
|
|
|
NM_052844.4(DYNC2I2):c.1311T>C (p.Tyr437=)
|
|
|
NM_052844.4(DYNC2I2):c.1345T>C (p.Leu449=)
|
|
|
NM_052844.4(DYNC2I2):c.1362C>A (p.Ala454=)
|
|
|
NM_052844.4(DYNC2I2):c.1362C>T (p.Ala454=)
|
|
|
NM_052844.4(DYNC2I2):c.1372+10G>C
|
rs1023019503
|
|
NM_052844.4(DYNC2I2):c.1372+12_1372+18del
|
rs1038611808
|
|
NM_052844.4(DYNC2I2):c.1372+13C>A
|
|
|
NM_052844.4(DYNC2I2):c.1372+13C>T
|
|
|
NM_052844.4(DYNC2I2):c.1372+13dup
|
|
|
NM_052844.4(DYNC2I2):c.1372+16T>A
|
|
|
NM_052844.4(DYNC2I2):c.1372+19G>A
|
|
|
NM_052844.4(DYNC2I2):c.1372+20C>A
|
|
|
NM_052844.4(DYNC2I2):c.1373-12CT[2]
|
|
|
NM_052844.4(DYNC2I2):c.1373-14G>C
|
|
|
NM_052844.4(DYNC2I2):c.1373-16_1373-15del
|
|
|
NM_052844.4(DYNC2I2):c.1395C>T (p.Leu465=)
|
|
|
NM_052844.4(DYNC2I2):c.1437C>T (p.Thr479=)
|
|
|
NM_052844.4(DYNC2I2):c.1449C>T (p.Ser483=)
|
|
|
NM_052844.4(DYNC2I2):c.1458C>T (p.Tyr486=)
|
|
|
NM_052844.4(DYNC2I2):c.1461T>C (p.Cys487=)
|
|
|
NM_052844.4(DYNC2I2):c.1467G>A (p.Glu489=)
|
|
|
NM_052844.4(DYNC2I2):c.1503C>T (p.Gly501=)
|
|
|
NM_052844.4(DYNC2I2):c.150G>T (p.Ser50=)
|
|
|
NM_052844.4(DYNC2I2):c.1515C>A (p.Gly505=)
|
|
|
NM_052844.4(DYNC2I2):c.1536G>A (p.Leu512=)
|
|
|
NM_052844.4(DYNC2I2):c.153G>A (p.Gln51=)
|
|
|
NM_052844.4(DYNC2I2):c.1564C>A (p.Arg522=)
|
|
|
NM_052844.4(DYNC2I2):c.15G>A (p.Ala5=)
|
|
|
NM_052844.4(DYNC2I2):c.186+15C>T
|
|
|
NM_052844.4(DYNC2I2):c.186+17C>T
|
rs570556602
|
|
NM_052844.4(DYNC2I2):c.186+7G>C
|
|
|
NM_052844.4(DYNC2I2):c.187-11C>T
|
|
|
NM_052844.4(DYNC2I2):c.187-18_187-17insTTGTA
|
|
|
NM_052844.4(DYNC2I2):c.201G>A (p.Thr67=)
|
rs2132156412
|
|
NM_052844.4(DYNC2I2):c.21G>A (p.Pro7=)
|
|
|
NM_052844.4(DYNC2I2):c.21G>C (p.Pro7=)
|
|
|
NM_052844.4(DYNC2I2):c.252C>T (p.Asp84=)
|
|
|
NM_052844.4(DYNC2I2):c.267G>A (p.Thr89=)
|
|
|
NM_052844.4(DYNC2I2):c.273C>T (p.Ala91=)
|
|
|
NM_052844.4(DYNC2I2):c.27A>T (p.Pro9=)
|
|
|
NM_052844.4(DYNC2I2):c.285C>G (p.Val95=)
|
|
|
NM_052844.4(DYNC2I2):c.288C>T (p.Ser96=)
|
|
|
NM_052844.4(DYNC2I2):c.300G>A (p.Pro100=)
|
|
|
NM_052844.4(DYNC2I2):c.312C>T (p.Asp104=)
|
|
|
NM_052844.4(DYNC2I2):c.324C>G (p.Leu108=)
|
|
|
NM_052844.4(DYNC2I2):c.324C>T (p.Leu108=)
|
rs199987486
|
|
NM_052844.4(DYNC2I2):c.330C>T (p.Ala110=)
|
|
|
NM_052844.4(DYNC2I2):c.337C>A (p.Arg113=)
|
|
|
NM_052844.4(DYNC2I2):c.360C>T (p.Ile120=)
|
|
|
NM_052844.4(DYNC2I2):c.420C>G (p.Thr140=)
|
rs541654387
|
|
NM_052844.4(DYNC2I2):c.435+11G>A
|
rs202171371
|
|
NM_052844.4(DYNC2I2):c.435+12G>C
|
|
|
NM_052844.4(DYNC2I2):c.435+16dup
|
|
|
NM_052844.4(DYNC2I2):c.436-19G>A
|
|
|
NM_052844.4(DYNC2I2):c.436-19G>C
|
|
|
NM_052844.4(DYNC2I2):c.436-20G>C
|
rs1206177711
|
|
NM_052844.4(DYNC2I2):c.436-4G>T
|
|
|
NM_052844.4(DYNC2I2):c.436-5C>T
|
|
|
NM_052844.4(DYNC2I2):c.45C>T (p.Ser15=)
|
|
|
NM_052844.4(DYNC2I2):c.465G>A (p.Pro155=)
|
|
|
NM_052844.4(DYNC2I2):c.474A>G (p.Gln158=)
|
|
|
NM_052844.4(DYNC2I2):c.546-12G>A
|
|
|
NM_052844.4(DYNC2I2):c.546-15C>A
|
|
|
NM_052844.4(DYNC2I2):c.555T>C (p.His185=)
|
|
|
NM_052844.4(DYNC2I2):c.570G>A (p.Thr190=)
|
|
|
NM_052844.4(DYNC2I2):c.582C>T (p.Phe194=)
|
|
|
NM_052844.4(DYNC2I2):c.621C>G (p.Pro207=)
|
|
|
NM_052844.4(DYNC2I2):c.636C>T (p.Ala212=)
|
|
|
NM_052844.4(DYNC2I2):c.657T>C (p.Ala219=)
|
|
|
NM_052844.4(DYNC2I2):c.663G>T (p.Leu221=)
|
|
|
NM_052844.4(DYNC2I2):c.703+10C>T
|
|
|
NM_052844.4(DYNC2I2):c.703+13C>T
|
|
|
NM_052844.4(DYNC2I2):c.703+17G>A
|
|
|
NM_052844.4(DYNC2I2):c.72C>T (p.Val24=)
|
|
|
NM_052844.4(DYNC2I2):c.780G>A (p.Leu260=)
|
|
|
NM_052844.4(DYNC2I2):c.783G>A (p.Thr261=)
|
|
|
NM_052844.4(DYNC2I2):c.795C>T (p.His265=)
|
|
|
NM_052844.4(DYNC2I2):c.813+11G>A
|
|
|
NM_052844.4(DYNC2I2):c.813+12G>A
|
|
|
NM_052844.4(DYNC2I2):c.813+17C>T
|
|
|
NM_052844.4(DYNC2I2):c.813+19G>A
|
rs368089184
|
|
NM_052844.4(DYNC2I2):c.813+19G>T
|
|
|
NM_052844.4(DYNC2I2):c.814-10G>T
|
|
|
NM_052844.4(DYNC2I2):c.814-8T>C
|
rs1441872910
|
|
NM_052844.4(DYNC2I2):c.81G>C (p.Ala27=)
|
|
|
NM_052844.4(DYNC2I2):c.834T>A (p.Pro278=)
|
|
|
NM_052844.4(DYNC2I2):c.84C>T (p.Ser28=)
|
|
|
NM_052844.4(DYNC2I2):c.855G>A (p.Gln285=)
|
|
|
NM_052844.4(DYNC2I2):c.858G>A (p.Val286=)
|
|
|
NM_052844.4(DYNC2I2):c.888A>C (p.Leu296=)
|
|
|
NM_052844.4(DYNC2I2):c.903C>T (p.Ile301=)
|
rs369977994
|
|
NM_052844.4(DYNC2I2):c.906G>A (p.Gly302=)
|
|
|
NM_052844.4(DYNC2I2):c.906G>T (p.Gly302=)
|
|
|
NM_052844.4(DYNC2I2):c.927A>G (p.Thr309=)
|
|
|
NM_052844.4(DYNC2I2):c.936C>T (p.Phe312=)
|
|
|
NM_052844.4(DYNC2I2):c.981+12C>T
|
|
|
NM_052844.4(DYNC2I2):c.981+14C>T
|
|
|
NM_052844.4(DYNC2I2):c.982-12A>G
|
|
|
NM_052844.4(DYNC2I2):c.982-9T>C
|
|
|
NM_147127.5(EVC2):c.1005+11C>G
|
|
|
NM_147127.5(EVC2):c.1005+14G>A
|
|
|
NM_147127.5(EVC2):c.1005+15A>C
|
|
|
NM_147127.5(EVC2):c.1005+17G>A
|
|
|
NM_147127.5(EVC2):c.1005+7C>G
|
rs1453329419
|
|
NM_147127.5(EVC2):c.1006-13A>C
|
|
|
NM_147127.5(EVC2):c.1006-15G>A
|
|
|
NM_147127.5(EVC2):c.1006-15G>T
|
rs371325268
|
|
NM_147127.5(EVC2):c.1006-16C>T
|
|
|
NM_147127.5(EVC2):c.1006-17C>A
|
|
|
NM_147127.5(EVC2):c.1006-17C>G
|
|
|
NM_147127.5(EVC2):c.1006-5T>C
|
|
|
NM_147127.5(EVC2):c.1006-5dup
|
|
|
NM_147127.5(EVC2):c.1006-6C>A
|
|
|
NM_147127.5(EVC2):c.1017T>C (p.Tyr339=)
|
|
|
NM_147127.5(EVC2):c.1020G>A (p.Glu340=)
|
|
|
NM_147127.5(EVC2):c.1041G>T (p.Pro347=)
|
|
|
NM_147127.5(EVC2):c.1047C>T (p.Thr349=)
|
rs2108896061
|
|
NM_147127.5(EVC2):c.1050A>G (p.Ser350=)
|
|
|
NM_147127.5(EVC2):c.1059C>A (p.Gly353=)
|
rs77793386
|
|
NM_147127.5(EVC2):c.1086C>T (p.Asp362=)
|
rs1719017773
|
|
NM_147127.5(EVC2):c.1102C>T (p.Leu368=)
|
|
|
NM_147127.5(EVC2):c.1110C>T (p.Ser370=)
|
rs748718225
|
|
NM_147127.5(EVC2):c.111C>T (p.Pro37=)
|
|
|
NM_147127.5(EVC2):c.1145+19A>G
|
rs1560206472
|
|
NM_147127.5(EVC2):c.1146-11G>A
|
|
|
NM_147127.5(EVC2):c.1146-11G>T
|
|
|
NM_147127.5(EVC2):c.1146-18G>T
|
|
|
NM_147127.5(EVC2):c.1146-19T>C
|
|
|
NM_147127.5(EVC2):c.1146-19T>G
|
|
|
NM_147127.5(EVC2):c.1146-5C>T
|
|
|
NM_147127.5(EVC2):c.1146-9G>C
|
rs774847750
|
|
NM_147127.5(EVC2):c.114C>T (p.Arg38=)
|
|
|
NM_147127.5(EVC2):c.1152G>A (p.Glu384=)
|
|
|
NM_147127.5(EVC2):c.1161C>G (p.Thr387=)
|
rs1717278166
|
|
NM_147127.5(EVC2):c.1170G>A (p.Arg390=)
|
|
|
NM_147127.5(EVC2):c.1173A>C (p.Ala391=)
|
rs1276908557
|
|
NM_147127.5(EVC2):c.1176T>C (p.Asp392=)
|
rs1577195366
|
|
NM_147127.5(EVC2):c.1197A>C (p.Arg399=)
|
|
|
NM_147127.5(EVC2):c.1206C>A (p.Ile402=)
|
|
|
NM_147127.5(EVC2):c.1206C>T (p.Ile402=)
|
|
|
NM_147127.5(EVC2):c.1209C>T (p.Ser403=)
|
|
|
NM_147127.5(EVC2):c.120C>T (p.Arg40=)
|
|
|
NM_147127.5(EVC2):c.1212G>A (p.Lys404=)
|
|
|
NM_147127.5(EVC2):c.1215T>C (p.Asp405=)
|
|
|
NM_147127.5(EVC2):c.1218C>A (p.Ile406=)
|
|
|
NM_147127.5(EVC2):c.1230G>A (p.Leu410=)
|
rs1302326375
|
|
NM_147127.5(EVC2):c.1230G>T (p.Leu410=)
|
rs1302326375
|
|
NM_147127.5(EVC2):c.123C>T (p.Pro41=)
|
rs1722355414
|
|
NM_147127.5(EVC2):c.1245C>T (p.Thr415=)
|
rs747208576
|
|
NM_147127.5(EVC2):c.1254C>T (p.Gly418=)
|
rs2108864185
|
|
NM_147127.5(EVC2):c.1257C>T (p.His419=)
|
rs1717268176
|
|
NM_147127.5(EVC2):c.1260C>G (p.Leu420=)
|
rs150859940
|
|
NM_147127.5(EVC2):c.1260C>T (p.Leu420=)
|
rs150859940
|
|
NM_147127.5(EVC2):c.1263A>T (p.Ser421=)
|
|
|
NM_147127.5(EVC2):c.1266C>T (p.Pro422=)
|
|
|
NM_147127.5(EVC2):c.1309C>T (p.Leu437=)
|
rs1434202396
|
|
NM_147127.5(EVC2):c.1311A>C (p.Leu437=)
|
rs77131452
|
|
NM_147127.5(EVC2):c.1315C>T (p.Leu439=)
|
|
|
NM_147127.5(EVC2):c.1317G>T (p.Leu439=)
|
|
|
NM_147127.5(EVC2):c.132G>A (p.Ala44=)
|
|
|
NM_147127.5(EVC2):c.1332A>G (p.Gln444=)
|
|
|
NM_147127.5(EVC2):c.1335G>A (p.Glu445=)
|
rs2108863935
|
|
NM_147127.5(EVC2):c.1359A>G (p.Ala453=)
|
|
|
NM_147127.5(EVC2):c.1359A>T (p.Ala453=)
|
rs1478613738
|
|
NM_147127.5(EVC2):c.1360T>C (p.Leu454=)
|
rs2108863865
|
|
NM_147127.5(EVC2):c.1371A>G (p.Glu457=)
|
|
|
NM_147127.5(EVC2):c.1383A>G (p.Glu461=)
|
|
|
NM_147127.5(EVC2):c.1386A>G (p.Thr462=)
|
|
|
NM_147127.5(EVC2):c.138A>G (p.Pro46=)
|
|
|
NM_147127.5(EVC2):c.1395G>A (p.Lys465=)
|
|
|
NM_147127.5(EVC2):c.1401A>G (p.Glu467=)
|
|
|
NM_147127.5(EVC2):c.1413G>A (p.Gln471=)
|
rs2108863731
|
|
NM_147127.5(EVC2):c.141C>T (p.Pro47=)
|
|
|
NM_147127.5(EVC2):c.142C>A (p.Arg48=)
|
|
|
NM_147127.5(EVC2):c.1443A>G (p.Glu481=)
|
|
|
NM_147127.5(EVC2):c.144G>A (p.Arg48=)
|
rs2151750018
|
|
NM_147127.5(EVC2):c.1450C>T (p.Leu484=)
|
|
|
NM_147127.5(EVC2):c.1470+10G>A
|
rs1198809289
|
|
NM_147127.5(EVC2):c.1470+11_1470+19del
|
|
|
NM_147127.5(EVC2):c.1470+12C>G
|
|
|
NM_147127.5(EVC2):c.1470+7C>T
|
|
|
NM_147127.5(EVC2):c.1470+8A>G
|
rs761155878
|
|
NM_147127.5(EVC2):c.1471-10C>T
|
rs1439878397
|
|
NM_147127.5(EVC2):c.1471-12T>G
|
|
|
NM_147127.5(EVC2):c.1471-13T>C
|
|
|
NM_147127.5(EVC2):c.1471-17C>T
|
|
|
NM_147127.5(EVC2):c.1471-20T>C
|
|
|
NM_147127.5(EVC2):c.1471-4C>G
|
rs947596816
|
|
NM_147127.5(EVC2):c.1471-5T>A
|
rs1043283150
|
|
NM_147127.5(EVC2):c.1471-5T>C
|
rs1043283150
|
|
NM_147127.5(EVC2):c.1471-8C>G
|
rs2108851855
|
|
NM_147127.5(EVC2):c.1497G>A (p.Leu499=)
|
|
|
NM_147127.5(EVC2):c.1498C>A (p.Arg500=)
|
rs148248777
|
|
NM_147127.5(EVC2):c.1503C>A (p.Thr501=)
|
rs369530549
|
|
NM_147127.5(EVC2):c.1503C>T (p.Thr501=)
|
|
|
NM_147127.5(EVC2):c.1506C>G (p.Leu502=)
|
|
|
NM_147127.5(EVC2):c.1509T>C (p.His503=)
|
rs771803987
|
|
NM_147127.5(EVC2):c.150C>G (p.Pro50=)
|
|
|
NM_147127.5(EVC2):c.150C>T (p.Pro50=)
|
rs1347650453
|
|
NM_147127.5(EVC2):c.1518A>G (p.Glu506=)
|
|
|
NM_147127.5(EVC2):c.1539T>C (p.Ser513=)
|
|
|
NM_147127.5(EVC2):c.1563C>T (p.Asp521=)
|
|
|
NM_147127.5(EVC2):c.1566T>C (p.Phe522=)
|
|
|
NM_147127.5(EVC2):c.1578C>T (p.His526=)
|
|
|
NM_147127.5(EVC2):c.159T>C (p.Ala53=)
|
rs2151749984
|
|
NM_147127.5(EVC2):c.1611G>A (p.Leu537=)
|
|
|
NM_147127.5(EVC2):c.1611G>T (p.Leu537=)
|
|
|
NM_147127.5(EVC2):c.1614C>T (p.His538=)
|
|
|
NM_147127.5(EVC2):c.1617T>C (p.Ser539=)
|
|
|
NM_147127.5(EVC2):c.1626T>C (p.Phe542=)
|
|
|
NM_147127.5(EVC2):c.1629C>G (p.Thr543=)
|
|
|
NM_147127.5(EVC2):c.1629C>T (p.Thr543=)
|
|
|
NM_147127.5(EVC2):c.1659A>G (p.Glu553=)
|
|
|
NM_147127.5(EVC2):c.1671G>A (p.Glu557=)
|
rs2108851360
|
|
NM_147127.5(EVC2):c.1686G>A (p.Leu562=)
|
|
|
NM_147127.5(EVC2):c.1686G>T (p.Leu562=)
|
rs1236419324
|
|
NM_147127.5(EVC2):c.1689G>A (p.Leu563=)
|
rs2108851319
|
|
NM_147127.5(EVC2):c.1710+12G>A
|
|
|
NM_147127.5(EVC2):c.1710+14C>T
|
|
|
NM_147127.5(EVC2):c.1710+17G>A
|
|
|
NM_147127.5(EVC2):c.1710+17G>T
|
|
|
NM_147127.5(EVC2):c.1710+7C>T
|
rs2108851268
|
|
NM_147127.5(EVC2):c.1710+8A>C
|
|
|
NM_147127.5(EVC2):c.1710+8A>G
|
|
|
NM_147127.5(EVC2):c.1711-10del
|
rs35103377
|
|
NM_147127.5(EVC2):c.1711-14T>C
|
|
|
NM_147127.5(EVC2):c.1711-18T>G
|
|
|
NM_147127.5(EVC2):c.1711-19T>A
|
|
|
NM_147127.5(EVC2):c.1711-20dup
|
rs35103377
|
|
NM_147127.5(EVC2):c.1711-9A>C
|
rs1716315517
|
|
NM_147127.5(EVC2):c.1734C>T (p.Asp578=)
|
|
|
NM_147127.5(EVC2):c.1749T>C (p.Ser583=)
|
|
|
NM_147127.5(EVC2):c.174C>T (p.Pro58=)
|
rs1317163956
|
|
NM_147127.5(EVC2):c.1752G>A (p.Lys584=)
|
rs762593768
|
|
NM_147127.5(EVC2):c.1762C>T (p.Leu588=)
|
|
|
NM_147127.5(EVC2):c.1764A>C (p.Leu588=)
|
|
|
NM_147127.5(EVC2):c.1767T>C (p.Ser589=)
|
rs2108847209
|
|
NM_147127.5(EVC2):c.1771A>C (p.Arg591=)
|
|
|
NM_147127.5(EVC2):c.1773A>G (p.Arg591=)
|
|
|
NM_147127.5(EVC2):c.1788A>G (p.Glu596=)
|
rs2108847187
|
|
NM_147127.5(EVC2):c.1791T>C (p.Tyr597=)
|
rs1716303868
|
|
NM_147127.5(EVC2):c.1794G>T (p.Leu598=)
|
rs1577179214
|
|
NM_147127.5(EVC2):c.1797C>T (p.Val599=)
|
rs2108847158
|
|
NM_147127.5(EVC2):c.1806C>G (p.Leu602=)
|
rs1172959079
|
|
NM_147127.5(EVC2):c.1806C>T (p.Leu602=)
|
|
|
NM_147127.5(EVC2):c.1812A>G (p.Ser604=)
|
rs781487000
|
|
NM_147127.5(EVC2):c.1821C>A (p.Thr607=)
|
|
|
NM_147127.5(EVC2):c.1833C>A (p.Gly611=)
|
rs879125910
|
|
NM_147127.5(EVC2):c.183G>A (p.Arg61=)
|
|
|
NM_147127.5(EVC2):c.1848T>G (p.Ala616=)
|
|
|
NM_147127.5(EVC2):c.1854C>G (p.Ala618=)
|
rs139729159
|
|
NM_147127.5(EVC2):c.1854C>T (p.Ala618=)
|
rs139729159
|
|
NM_147127.5(EVC2):c.1857G>A (p.Gln619=)
|
rs2108847045
|
|
NM_147127.5(EVC2):c.1860G>C (p.Leu620=)
|
rs763402206
|
|
NM_147127.5(EVC2):c.1866C>T (p.His622=)
|
rs1300374301
|
|
NM_147127.5(EVC2):c.1869C>T (p.Leu623=)
|
rs557920458
|
|
NM_147127.5(EVC2):c.186C>T (p.Ile62=)
|
|
|
NM_147127.5(EVC2):c.1878G>A (p.Lys626=)
|
rs1001648119
|
|
NM_147127.5(EVC2):c.1886+10A>C
|
rs2108846937
|
|
NM_147127.5(EVC2):c.1886+13A>G
|
|
|
NM_147127.5(EVC2):c.1886+16G>A
|
|
|
NM_147127.5(EVC2):c.1886+9C>G
|
|
|
NM_147127.5(EVC2):c.1886+9C>T
|
|
|
NM_147127.5(EVC2):c.1887-12C>T
|
|
|
NM_147127.5(EVC2):c.1887-15A>G
|
|
|
NM_147127.5(EVC2):c.1887-16C>T
|
|
|
NM_147127.5(EVC2):c.1887-17A>C
|
|
|
NM_147127.5(EVC2):c.1887-18T>C
|
|
|
NM_147127.5(EVC2):c.1887-19T>G
|
|
|
NM_147127.5(EVC2):c.1887-4C>G
|
rs376809175
|
|
NM_147127.5(EVC2):c.1887-4C>T
|
|
|
NM_147127.5(EVC2):c.1893G>A (p.Gly631=)
|
rs1363412492
|
|
NM_147127.5(EVC2):c.1923A>T (p.Leu641=)
|
rs1193715900
|
|
NM_147127.5(EVC2):c.1924T>C (p.Leu642=)
|
rs2108843348
|
|
NM_147127.5(EVC2):c.1932G>A (p.Arg644=)
|
rs1577175315
|
|
NM_147127.5(EVC2):c.1935T>C (p.Ala645=)
|
rs2108843316
|
|
NM_147127.5(EVC2):c.1935T>G (p.Ala645=)
|
|
|
NM_147127.5(EVC2):c.1941A>G (p.Thr647=)
|
rs2108843302
|
|
NM_147127.5(EVC2):c.1950T>C (p.Phe650=)
|
|
|
NM_147127.5(EVC2):c.1959G>A (p.Lys653=)
|
rs2108843274
|
|
NM_147127.5(EVC2):c.195G>T (p.Gly65=)
|
|
|
NM_147127.5(EVC2):c.1966T>C (p.Leu656=)
|
|
|
NM_147127.5(EVC2):c.198G>T (p.Arg66=)
|
|
|
NM_147127.5(EVC2):c.2001C>G (p.Leu667=)
|
rs756855227
|
|
NM_147127.5(EVC2):c.2007A>G (p.Gln669=)
|
|
|
NM_147127.5(EVC2):c.2011T>C (p.Leu671=)
|
|
|
NM_147127.5(EVC2):c.2019T>C (p.Thr673=)
|
rs2108843154
|
|
NM_147127.5(EVC2):c.2028A>G (p.Arg676=)
|
|
|
NM_147127.5(EVC2):c.2031A>G (p.Arg677=)
|
rs1577175103
|
|
NM_147127.5(EVC2):c.2037G>A (p.Leu679=)
|
|
|
NM_147127.5(EVC2):c.2038C>T (p.Leu680=)
|
|
|
NM_147127.5(EVC2):c.2046+10G>A
|
|
|
NM_147127.5(EVC2):c.2046+13T>C
|
|
|
NM_147127.5(EVC2):c.2046+14del
|
|
|
NM_147127.5(EVC2):c.2046+7A>G
|
rs769477288
|
|
NM_147127.5(EVC2):c.2047-10G>A
|
rs2108839481
|
|
NM_147127.5(EVC2):c.2047-17C>G
|
|
|
NM_147127.5(EVC2):c.2047-4C>G
|
rs2108839468
|
|
NM_147127.5(EVC2):c.2047-4C>T
|
|
|
NM_147127.5(EVC2):c.2047-9A>C
|
rs73198154
|
|
NM_147127.5(EVC2):c.2058G>A (p.Gln686=)
|
|
|
NM_147127.5(EVC2):c.2067G>A (p.Glu689=)
|
rs201506848
|
|
NM_147127.5(EVC2):c.2076C>G (p.Ser692=)
|
|
|
NM_147127.5(EVC2):c.2079C>A (p.Val693=)
|
rs201171209
|
|
NM_147127.5(EVC2):c.2082C>G (p.Gly694=)
|
|
|
NM_147127.5(EVC2):c.2085G>A (p.Glu695=)
|
|
|
NM_147127.5(EVC2):c.2097G>A (p.Thr699=)
|
|
|
NM_147127.5(EVC2):c.2121G>A (p.Leu707=)
|
|
|
NM_147127.5(EVC2):c.2137C>T (p.Leu713=)
|
rs143662104
|
|
NM_147127.5(EVC2):c.2139G>C (p.Leu713=)
|
rs1420713271
|
|
NM_147127.5(EVC2):c.213C>A (p.Pro71=)
|
rs956555128
|
|
NM_147127.5(EVC2):c.213C>G (p.Pro71=)
|
|
|
NM_147127.5(EVC2):c.2145G>A (p.Glu715=)
|
|
|
NM_147127.5(EVC2):c.2148G>A (p.Glu716=)
|
|
|
NM_147127.5(EVC2):c.2181T>A (p.Arg727=)
|
rs2108839127
|
|
NM_147127.5(EVC2):c.2187C>T (p.Asp729=)
|
|
|
NM_147127.5(EVC2):c.2197C>T (p.Leu733=)
|
|
|
NM_147127.5(EVC2):c.2199G>A (p.Leu733=)
|
|
|
NM_147127.5(EVC2):c.21G>C (p.Arg7=)
|
|
|
NM_147127.5(EVC2):c.2208C>A (p.Leu736=)
|
rs762567213
|
|
NM_147127.5(EVC2):c.2208C>G (p.Leu736=)
|
|
|
NM_147127.5(EVC2):c.2217G>T (p.Leu739=)
|
rs2108839042
|
|
NM_147127.5(EVC2):c.2220C>A (p.Thr740=)
|
rs1322356357
|
|
NM_147127.5(EVC2):c.2226G>T (p.Ser742=)
|
|
|
NM_147127.5(EVC2):c.2241C>T (p.Ala747=)
|
rs2108838978
|
|
NM_147127.5(EVC2):c.2256G>T (p.Arg752=)
|
rs745815880
|
|
NM_147127.5(EVC2):c.225G>A (p.Thr75=)
|
rs879806038
|
|
NM_147127.5(EVC2):c.225G>C (p.Thr75=)
|
|
|
NM_147127.5(EVC2):c.225G>T (p.Thr75=)
|
rs879806038
|
|
NM_147127.5(EVC2):c.2260C>T (p.Leu754=)
|
rs994924513
|
|
NM_147127.5(EVC2):c.2262G>C (p.Leu754=)
|
rs1715799265
|
|
NM_147127.5(EVC2):c.228+11C>T
|
|
|
NM_147127.5(EVC2):c.228+13C>T
|
|
|
NM_147127.5(EVC2):c.228+14G>A
|
|
|
NM_147127.5(EVC2):c.228+16C>T
|
|
|
NM_147127.5(EVC2):c.228+17C>A
|
|
|
NM_147127.5(EVC2):c.228+18C>G
|
|
|
NM_147127.5(EVC2):c.228+20A>C
|
|
|
NM_147127.5(EVC2):c.228+8G>A
|
rs965425013
|
|
NM_147127.5(EVC2):c.228+9G>T
|
|
|
NM_147127.5(EVC2):c.229-14C>G
|
|
|
NM_147127.5(EVC2):c.229-18G>C
|
|
|
NM_147127.5(EVC2):c.2292C>T (p.Leu764=)
|
|
|
NM_147127.5(EVC2):c.2301G>A (p.Gly767=)
|
rs374178504
|
|
NM_147127.5(EVC2):c.2301G>C (p.Gly767=)
|
rs374178504
|
|
NM_147127.5(EVC2):c.2304G>A (p.Val768=)
|
|
|
NM_147127.5(EVC2):c.2316C>T (p.Phe772=)
|
|
|
NM_147127.5(EVC2):c.2319G>A (p.Leu773=)
|
rs775800077
|
|
NM_147127.5(EVC2):c.231C>T (p.Asp77=)
|
|
|
NM_147127.5(EVC2):c.2322G>A (p.Gln774=)
|
|
|
NM_147127.5(EVC2):c.2328C>T (p.Ile776=)
|
rs2108838807
|
|
NM_147127.5(EVC2):c.2329C>T (p.Leu777=)
|
|
|
NM_147127.5(EVC2):c.232T>C (p.Leu78=)
|
|
|
NM_147127.5(EVC2):c.2346G>A (p.Lys782=)
|
rs2108838756
|
|
NM_147127.5(EVC2):c.234G>A (p.Leu78=)
|
|
|
NM_147127.5(EVC2):c.2355T>C (p.Ala785=)
|
|
|
NM_147127.5(EVC2):c.2358A>G (p.Ala786=)
|
rs903048338
|
|
NM_147127.5(EVC2):c.2359C>A (p.Arg787=)
|
rs776830520
|
|
NM_147127.5(EVC2):c.2361G>A (p.Arg787=)
|
|
|
NM_147127.5(EVC2):c.2361G>T (p.Arg787=)
|
rs1041638769
|
|
NM_147127.5(EVC2):c.2373G>A (p.Leu791=)
|
|
|
NM_147127.5(EVC2):c.2373G>T (p.Leu791=)
|
rs762295916
|
|
NM_147127.5(EVC2):c.237C>G (p.Pro79=)
|
rs1721565602
|
|
NM_147127.5(EVC2):c.2382G>A (p.Glu794=)
|
|
|
NM_147127.5(EVC2):c.2385G>A (p.Glu795=)
|
|
|
NM_147127.5(EVC2):c.2392A>C (p.Arg798=)
|
|
|
NM_147127.5(EVC2):c.2406T>C (p.Gly802=)
|
|
|
NM_147127.5(EVC2):c.2412G>A (p.Gln804=)
|
rs1715777770
|
|
NM_147127.5(EVC2):c.2415C>T (p.Ser805=)
|
|
|
NM_147127.5(EVC2):c.2427A>G (p.Arg809=)
|
|
|
NM_147127.5(EVC2):c.2433G>A (p.Lys811=)
|
rs2108838539
|
|
NM_147127.5(EVC2):c.2451C>A (p.Ala817=)
|
|
|
NM_147127.5(EVC2):c.2451C>G (p.Ala817=)
|
rs377709998
|
|
NM_147127.5(EVC2):c.2454G>A (p.Val818=)
|
|
|
NM_147127.5(EVC2):c.2469A>C (p.Ala823=)
|
|
|
NM_147127.5(EVC2):c.2472G>A (p.Glu824=)
|
|
|
NM_147127.5(EVC2):c.2473C>T (p.Leu825=)
|
rs774185697
|
|
NM_147127.5(EVC2):c.2481C>T (p.Arg827=)
|
rs1577169762
|
|
NM_147127.5(EVC2):c.2490C>T (p.His830=)
|
rs944565097
|
|
NM_147127.5(EVC2):c.2493G>A (p.Leu831=)
|
rs369796222
|
|
NM_147127.5(EVC2):c.2493G>T (p.Leu831=)
|
|
|
NM_147127.5(EVC2):c.24G>A (p.Gly8=)
|
rs989328461
|
|
NM_147127.5(EVC2):c.24G>T (p.Gly8=)
|
rs989328461
|
|
NM_147127.5(EVC2):c.2501+14C>T
|
|
|
NM_147127.5(EVC2):c.2501+15G>A
|
|
|
NM_147127.5(EVC2):c.2501+17G>T
|
rs755613338
|
|
NM_147127.5(EVC2):c.2501+19C>T
|
|
|
NM_147127.5(EVC2):c.2501+20G>C
|
|
|
NM_147127.5(EVC2):c.2501+7G>A
|
|
|
NM_147127.5(EVC2):c.2502-11C>G
|
|
|
NM_147127.5(EVC2):c.2502-12T>G
|
|
|
NM_147127.5(EVC2):c.2502-18C>G
|
|
|
NM_147127.5(EVC2):c.2502-20G>A
|
|
|
NM_147127.5(EVC2):c.2502-20G>C
|
|
|
NM_147127.5(EVC2):c.2502-7C>T
|
|
|
NM_147127.5(EVC2):c.2505G>A (p.Lys835=)
|
rs527993206
|
|
NM_147127.5(EVC2):c.2508C>G (p.Leu836=)
|
|
|
NM_147127.5(EVC2):c.2508C>T (p.Leu836=)
|
|
|
NM_147127.5(EVC2):c.2514C>A (p.Ser838=)
|
rs1715456441
|
|
NM_147127.5(EVC2):c.2526C>T (p.Ser842=)
|
|
|
NM_147127.5(EVC2):c.2529G>C (p.Leu843=)
|
|
|
NM_147127.5(EVC2):c.2535A>G (p.Glu845=)
|
|
|
NM_147127.5(EVC2):c.2541G>A (p.Glu847=)
|
|
|
NM_147127.5(EVC2):c.2542C>T (p.Leu848=)
|
|
|
NM_147127.5(EVC2):c.2544G>A (p.Leu848=)
|
rs761816687
|
|
NM_147127.5(EVC2):c.2544G>C (p.Leu848=)
|
rs761816687
|
|
NM_147127.5(EVC2):c.2568T>C (p.His856=)
|
|
|
NM_147127.5(EVC2):c.2583G>A (p.Gln861=)
|
|
|
NM_147127.5(EVC2):c.258G>A (p.Val86=)
|
|
|
NM_147127.5(EVC2):c.2604C>G (p.Leu868=)
|
|
|
NM_147127.5(EVC2):c.2614C>A (p.Arg872=)
|
|
|
NM_147127.5(EVC2):c.2616G>C (p.Arg872=)
|
rs1715442469
|
|
NM_147127.5(EVC2):c.2619C>G (p.Ala873=)
|
|
|
NM_147127.5(EVC2):c.2619C>T (p.Ala873=)
|
|
|
NM_147127.5(EVC2):c.261A>G (p.Glu87=)
|
rs1721564411
|
|
NM_147127.5(EVC2):c.2620C>A (p.Arg874=)
|
rs760382778
|
|
NM_147127.5(EVC2):c.2631G>T (p.Leu877=)
|
rs2108833246
|
|
NM_147127.5(EVC2):c.2649G>T (p.Ala883=)
|
rs751714104
|
|
NM_147127.5(EVC2):c.264C>T (p.Cys88=)
|
|
|
NM_147127.5(EVC2):c.2658A>G (p.Glu886=)
|
rs2108833172
|
|
NM_147127.5(EVC2):c.2661A>C (p.Ala887=)
|
|
|
NM_147127.5(EVC2):c.2661A>G (p.Ala887=)
|
|
|
NM_147127.5(EVC2):c.2676G>A (p.Leu892=)
|
rs2108833128
|
|
NM_147127.5(EVC2):c.2676G>T (p.Leu892=)
|
|
|
NM_147127.5(EVC2):c.2679C>T (p.Asp893=)
|
|
|
NM_147127.5(EVC2):c.2682G>A (p.Gln894=)
|
rs772672973
|
|
NM_147127.5(EVC2):c.2694C>G (p.Ala898=)
|
|
|
NM_147127.5(EVC2):c.2703G>A (p.Leu901=)
|
rs902054124
|
|
NM_147127.5(EVC2):c.2706+10A>G
|
|
|
NM_147127.5(EVC2):c.2706+11C>G
|
|
|
NM_147127.5(EVC2):c.2706+13T>A
|
|
|
NM_147127.5(EVC2):c.2706+16C>G
|
|
|
NM_147127.5(EVC2):c.2707-11C>T
|
|
|
NM_147127.5(EVC2):c.2707-15C>G
|
rs2108829132
|
|
NM_147127.5(EVC2):c.2707-15C>T
|
|
|
NM_147127.5(EVC2):c.2707-4C>G
|
rs1368840473
|
|
NM_147127.5(EVC2):c.2707-6C>T
|
rs2108829097
|
|
NM_147127.5(EVC2):c.2707-7_2707-6insA
|
|
|
NM_147127.5(EVC2):c.2712G>A (p.Gln904=)
|
rs2108829070
|
|
NM_147127.5(EVC2):c.2727G>A (p.Lys909=)
|
|
|
NM_147127.5(EVC2):c.2730A>G (p.Ser910=)
|
|
|
NM_147127.5(EVC2):c.2736C>G (p.Ser912=)
|
|
|
NM_147127.5(EVC2):c.273T>C (p.Phe91=)
|
rs2151739532
|
|
NM_147127.5(EVC2):c.2742T>C (p.Ser914=)
|
|
|
NM_147127.5(EVC2):c.2757G>A (p.Glu919=)
|
rs2108828983
|
|
NM_147127.5(EVC2):c.2761C>T (p.Leu921=)
|
|
|
NM_147127.5(EVC2):c.2775C>A (p.Ile925=)
|
rs772481704
|
|
NM_147127.5(EVC2):c.2775C>T (p.Ile925=)
|
rs772481704
|
|
NM_147127.5(EVC2):c.2781C>T (p.Asp927=)
|
rs1193965705
|
|
NM_147127.5(EVC2):c.2796T>C (p.Cys932=)
|
|
|
NM_147127.5(EVC2):c.279T>G (p.Thr93=)
|
|
|
NM_147127.5(EVC2):c.27C>G (p.Arg9=)
|
rs2151750187
|
|
NM_147127.5(EVC2):c.27C>T (p.Arg9=)
|
|
|
NM_147127.5(EVC2):c.2811T>C (p.Ser937=)
|
|
|
NM_147127.5(EVC2):c.2820G>C (p.Leu940=)
|
rs145709352
|
|
NM_147127.5(EVC2):c.2823G>A (p.Val941=)
|
|
|
NM_147127.5(EVC2):c.2829+11C>G
|
|
|
NM_147127.5(EVC2):c.2829+12T>G
|
|
|
NM_147127.5(EVC2):c.283+15T>C
|
|
|
NM_147127.5(EVC2):c.283+15del
|
|
|
NM_147127.5(EVC2):c.283+17G>A
|
|
|
NM_147127.5(EVC2):c.2830-10C>T
|
|
|
NM_147127.5(EVC2):c.2830-15C>A
|
|
|
NM_147127.5(EVC2):c.2830-18A>C
|
|
|
NM_147127.5(EVC2):c.2830-19C>T
|
|
|
NM_147127.5(EVC2):c.2830-5C>G
|
rs1712137643
|
|
NM_147127.5(EVC2):c.2830-5C>T
|
|
|
NM_147127.5(EVC2):c.2830-7C>T
|
|
|
NM_147127.5(EVC2):c.2830-8C>T
|
rs548370448
|
|
NM_147127.5(EVC2):c.2830-9C>T
|
rs1414864322
|
|
NM_147127.5(EVC2):c.2832T>G (p.Val944=)
|
|
|
NM_147127.5(EVC2):c.2838T>C (p.Gly946=)
|
rs764538071
|
|
NM_147127.5(EVC2):c.284-10T>G
|
rs1192584069
|
|
NM_147127.5(EVC2):c.284-11T>C
|
|
|
NM_147127.5(EVC2):c.284-14T>C
|
|
|
NM_147127.5(EVC2):c.284-14T>G
|
|
|
NM_147127.5(EVC2):c.284-15GTT[2]
|
|
|
NM_147127.5(EVC2):c.284-16T>C
|
|
|
NM_147127.5(EVC2):c.284-19G>A
|
|
|
NM_147127.5(EVC2):c.284-20G>T
|
|
|
NM_147127.5(EVC2):c.284-5T>C
|
rs994568319
|
|
NM_147127.5(EVC2):c.2842T>C (p.Leu948=)
|
rs2108788809
|
|
NM_147127.5(EVC2):c.2847G>C (p.Leu949=)
|
rs763331726
|
|
NM_147127.5(EVC2):c.2848C>A (p.Arg950=)
|
|
|
NM_147127.5(EVC2):c.2871G>A (p.Glu957=)
|
|
|
NM_147127.5(EVC2):c.2877G>A (p.Gln959=)
|
|
|
NM_147127.5(EVC2):c.2880G>A (p.Glu960=)
|
rs903682822
|
|
NM_147127.5(EVC2):c.2886C>T (p.Gly962=)
|
|
|
NM_147127.5(EVC2):c.2898G>T (p.Ser966=)
|
rs150055324
|
|
NM_147127.5(EVC2):c.2901T>C (p.Leu967=)
|
|
|
NM_147127.5(EVC2):c.2919G>A (p.Gln973=)
|
rs759657816
|
|
NM_147127.5(EVC2):c.291A>C (p.Ala97=)
|
rs752850734
|
|
NM_147127.5(EVC2):c.2928C>A (p.Ser976=)
|
rs2108788636
|
|
NM_147127.5(EVC2):c.2928C>T (p.Ser976=)
|
|
|
NM_147127.5(EVC2):c.2937C>A (p.Thr979=)
|
rs750126669
|
|
NM_147127.5(EVC2):c.2940G>A (p.Glu980=)
|
rs2108788600
|
|
NM_147127.5(EVC2):c.2943T>C (p.Thr981=)
|
rs2108788584
|
|
NM_147127.5(EVC2):c.2944C>T (p.Leu982=)
|
rs927421145
|
|
NM_147127.5(EVC2):c.2946G>A (p.Leu982=)
|
rs2108788572
|
|
NM_147127.5(EVC2):c.2946G>C (p.Leu982=)
|
|
|
NM_147127.5(EVC2):c.294A>C (p.Pro98=)
|
|
|
NM_147127.5(EVC2):c.2955C>T (p.Tyr985=)
|
rs2108788542
|
|
NM_147127.5(EVC2):c.2961C>A (p.Ala987=)
|
|
|
NM_147127.5(EVC2):c.2967C>T (p.Leu989=)
|
rs2108788495
|
|
NM_147127.5(EVC2):c.2979C>T (p.Asp993=)
|
|
|
NM_147127.5(EVC2):c.2980T>C (p.Leu994=)
|
rs2108788479
|
|
NM_147127.5(EVC2):c.2986C>T (p.Leu996=)
|
|
|
NM_147127.5(EVC2):c.2988G>A (p.Leu996=)
|
|
|
NM_147127.5(EVC2):c.2988G>T (p.Leu996=)
|
|
|
NM_147127.5(EVC2):c.3003A>G (p.Ala1001=)
|
rs1577118232
|
|
NM_147127.5(EVC2):c.3015G>A (p.Leu1005=)
|
rs1577118206
|
|
NM_147127.5(EVC2):c.3027C>T (p.Ala1009=)
|
|
|
NM_147127.5(EVC2):c.3039_3040delinsTG (p.Leu1014Val)
|
rs2108788322
|
|
NM_147127.5(EVC2):c.3048G>T (p.Ser1016=)
|
rs182310332
|
|
NM_147127.5(EVC2):c.3051C>T (p.His1017=)
|
rs2108788303
|
|
NM_147127.5(EVC2):c.3055C>A (p.Arg1019=)
|
|
|
NM_147127.5(EVC2):c.3057+10G>T
|
rs2108788255
|
|
NM_147127.5(EVC2):c.3057+11G>A
|
|
|
NM_147127.5(EVC2):c.3057+11G>T
|
|
|
NM_147127.5(EVC2):c.3057+12C>T
|
|
|
NM_147127.5(EVC2):c.3057+14_3057+16del
|
|
|
NM_147127.5(EVC2):c.3057+15T>C
|
|
|
NM_147127.5(EVC2):c.3057+9A>C
|
rs774288170
|
|
NM_147127.5(EVC2):c.3057+9A>T
|
|
|
NM_147127.5(EVC2):c.3058-17G>A
|
|
|
NM_147127.5(EVC2):c.3058-20T>C
|
|
|
NM_147127.5(EVC2):c.3058-4G>T
|
rs1490949079
|
|
NM_147127.5(EVC2):c.3058-7T>C
|
|
|
NM_147127.5(EVC2):c.3058-9C>T
|
rs1722942659
|
|
NM_147127.5(EVC2):c.3069G>A (p.Glu1023=)
|
rs2108778947
|
|
NM_147127.5(EVC2):c.306A>G (p.Lys102=)
|
rs2151736755
|
|
NM_147127.5(EVC2):c.3075G>A (p.Glu1025=)
|
rs1208477150
|
|
NM_147127.5(EVC2):c.3093G>A (p.Gln1031=)
|
rs1429408396
|
|
NM_147127.5(EVC2):c.3096G>C (p.Leu1032=)
|
rs2108778905
|
|
NM_147127.5(EVC2):c.3099G>A (p.Val1033=)
|
rs2108778897
|
|
NM_147127.5(EVC2):c.309G>A (p.Leu103=)
|
|
|
NM_147127.5(EVC2):c.30C>A (p.Pro10=)
|
rs1193570001
|
|
NM_147127.5(EVC2):c.3102G>A (p.Gln1034=)
|
|
|
NM_147127.5(EVC2):c.3135G>A (p.Ala1045=)
|
|
|
NM_147127.5(EVC2):c.3135G>C (p.Ala1045=)
|
rs767047805
|
|
NM_147127.5(EVC2):c.3138C>T (p.Ser1046=)
|
|
|
NM_147127.5(EVC2):c.3156C>G (p.Ala1052=)
|
rs770163191
|
|
NM_147127.5(EVC2):c.3168G>A (p.Gly1056=)
|
rs778954685
|
|
NM_147127.5(EVC2):c.3171T>A (p.Ile1057=)
|
|
|
NM_147127.5(EVC2):c.3172C>T (p.Leu1058=)
|
|
|
NM_147127.5(EVC2):c.3177C>T (p.Asn1059=)
|
|
|
NM_147127.5(EVC2):c.3207G>A (p.Gln1069=)
|
rs2108778699
|
|
NM_147127.5(EVC2):c.3210C>G (p.Val1070=)
|
rs1722925677
|
|
NM_147127.5(EVC2):c.3220C>T (p.Leu1074=)
|
rs2108778665
|
|
NM_147127.5(EVC2):c.3225C>T (p.His1075=)
|
rs2108778650
|
|
NM_147127.5(EVC2):c.3234G>A (p.Leu1078=)
|
|
|
NM_147127.5(EVC2):c.3240G>A (p.Lys1080=)
|
rs779116122
|
|
NM_147127.5(EVC2):c.3258G>A (p.Glu1086=)
|
rs1235779972
|
|
NM_147127.5(EVC2):c.3272+20G>A
|
|
|
NM_147127.5(EVC2):c.3272+20G>T
|
|
|
NM_147127.5(EVC2):c.3272+8G>A
|
rs201800139
|
|
NM_147127.5(EVC2):c.3272+8G>T
|
|
|
NM_147127.5(EVC2):c.3273-19T>C
|
|
|
NM_147127.5(EVC2):c.3273-6C>T
|
|
|
NM_147127.5(EVC2):c.3273-7A>C
|
|
|
NM_147127.5(EVC2):c.3273-7A>G
|
rs1382818953
|
|
NM_147127.5(EVC2):c.3273-7dup
|
rs2108777051
|
|
NM_147127.5(EVC2):c.3273-8C>A
|
|
|
NM_147127.5(EVC2):c.3285A>G (p.Glu1095=)
|
rs1462214483
|
|
NM_147127.5(EVC2):c.3300C>T (p.Val1100=)
|
rs1577106532
|
|
NM_147127.5(EVC2):c.3303G>T (p.Val1101=)
|
|
|
NM_147127.5(EVC2):c.3315G>A (p.Leu1105=)
|
rs1006097259
|
|
NM_147127.5(EVC2):c.3316T>C (p.Leu1106=)
|
|
|
NM_147127.5(EVC2):c.3330G>A (p.Glu1110=)
|
|
|
NM_147127.5(EVC2):c.3351G>C (p.Leu1117=)
|
rs1722813978
|
|
NM_147127.5(EVC2):c.3360+16del
|
|
|
NM_147127.5(EVC2):c.3361-10T>C
|
rs2108771027
|
|
NM_147127.5(EVC2):c.3361-11G>A
|
rs369005788
|
|
NM_147127.5(EVC2):c.3361-14G>A
|
|
|
NM_147127.5(EVC2):c.3361-18C>T
|
|
|
NM_147127.5(EVC2):c.3361-20C>T
|
|
|
NM_147127.5(EVC2):c.3361-7C>T
|
rs772860972
|
|
NM_147127.5(EVC2):c.3361-8T>A
|
rs1358459718
|
|
NM_147127.5(EVC2):c.3367A>C (p.Arg1123=)
|
|
|
NM_147127.5(EVC2):c.336A>G (p.Pro112=)
|
|
|
NM_147127.5(EVC2):c.3370C>T (p.Leu1124=)
|
rs1722461930
|
|
NM_147127.5(EVC2):c.3381C>T (p.Tyr1127=)
|
rs2108770980
|
|
NM_147127.5(EVC2):c.3387G>A (p.Ala1129=)
|
rs752793772
|
|
NM_147127.5(EVC2):c.339C>G (p.Leu113=)
|
|
|
NM_147127.5(EVC2):c.3414G>T (p.Thr1138=)
|
|
|
NM_147127.5(EVC2):c.3420C>T (p.Arg1140=)
|
|
|
NM_147127.5(EVC2):c.3423G>A (p.Arg1141=)
|
rs1577099807
|
|
NM_147127.5(EVC2):c.3426C>G (p.Leu1142=)
|
|
|
NM_147127.5(EVC2):c.3429G>A (p.Leu1143=)
|
|
|
NM_147127.5(EVC2):c.3429G>C (p.Leu1143=)
|
rs2108770885
|
|
NM_147127.5(EVC2):c.3435G>A (p.Val1145=)
|
|
|
NM_147127.5(EVC2):c.3441G>T (p.Leu1147=)
|
|
|
NM_147127.5(EVC2):c.3450C>T (p.Ala1150=)
|
|
|
NM_147127.5(EVC2):c.3456G>A (p.Gln1152=)
|
rs1722452266
|
|
NM_147127.5(EVC2):c.3466C>T (p.Leu1156=)
|
rs2108770821
|
|
NM_147127.5(EVC2):c.3471C>A (p.Ala1157=)
|
|
|
NM_147127.5(EVC2):c.3471C>G (p.Ala1157=)
|
rs1722451421
|
|
NM_147127.5(EVC2):c.3472C>T (p.Leu1158=)
|
|
|
NM_147127.5(EVC2):c.3474G>A (p.Leu1158=)
|
|
|
NM_147127.5(EVC2):c.3474G>C (p.Leu1158=)
|
rs760612657
|
|
NM_147127.5(EVC2):c.3475C>T (p.Leu1159=)
|
|
|
NM_147127.5(EVC2):c.3489C>G (p.Thr1163=)
|
rs370368827
|
|
NM_147127.5(EVC2):c.3501G>T (p.Val1167=)
|
|
|
NM_147127.5(EVC2):c.3504C>T (p.Asp1168=)
|
|
|
NM_147127.5(EVC2):c.3510A>G (p.Ala1170=)
|
|
|
NM_147127.5(EVC2):c.3525C>T (p.Gly1175=)
|
rs767393828
|
|
NM_147127.5(EVC2):c.3531G>C (p.Ala1177=)
|
|
|
NM_147127.5(EVC2):c.3540C>G (p.Ala1180=)
|
rs373829825
|
|
NM_147127.5(EVC2):c.3546G>A (p.Val1182=)
|
|
|
NM_147127.5(EVC2):c.3546G>C (p.Val1182=)
|
rs2108770634
|
|
NM_147127.5(EVC2):c.354C>A (p.Ala118=)
|
|
|
NM_147127.5(EVC2):c.354C>G (p.Ala118=)
|
rs915274674
|
|
NM_147127.5(EVC2):c.3552G>A (p.Arg1184=)
|
rs1376155432
|
|
NM_147127.5(EVC2):c.3553C>A (p.Arg1185=)
|
rs545528367
|
|
NM_147127.5(EVC2):c.3557+10G>T
|
|
|
NM_147127.5(EVC2):c.3557+15G>A
|
|
|
NM_147127.5(EVC2):c.3557+15G>C
|
|
|
NM_147127.5(EVC2):c.3557+18G>A
|
|
|
NM_147127.5(EVC2):c.3557+18G>T
|
|
|
NM_147127.5(EVC2):c.3557+20T>C
|
|
|
NM_147127.5(EVC2):c.3557+9C>G
|
|
|
NM_147127.5(EVC2):c.3558-12T>C
|
|
|
NM_147127.5(EVC2):c.3558-19A>G
|
|
|
NM_147127.5(EVC2):c.3558-19A>T
|
|
|
NM_147127.5(EVC2):c.3558-4G>A
|
rs746098929
|
|
NM_147127.5(EVC2):c.3558-4G>T
|
|
|
NM_147127.5(EVC2):c.3558-6C>G
|
|
|
NM_147127.5(EVC2):c.3558-7C>T
|
rs2108767379
|
|
NM_147127.5(EVC2):c.3558-9del
|
rs2108767385
|
|
NM_147127.5(EVC2):c.3564C>T (p.His1188=)
|
|
|
NM_147127.5(EVC2):c.3570C>T (p.Ser1190=)
|
|
|
NM_147127.5(EVC2):c.3588T>C (p.Asp1196=)
|
rs1485389885
|
|
NM_147127.5(EVC2):c.3609G>A (p.Leu1203=)
|
rs754595798
|
|
NM_147127.5(EVC2):c.3634C>T (p.Leu1212=)
|
rs1392499941
|
|
NM_147127.5(EVC2):c.3642C>G (p.Ala1214=)
|
|
|
NM_147127.5(EVC2):c.3642C>T (p.Ala1214=)
|
|
|
NM_147127.5(EVC2):c.3659+10G>T
|
|
|
NM_147127.5(EVC2):c.3659+12C>T
|
|
|
NM_147127.5(EVC2):c.3659+13A>G
|
|
|
NM_147127.5(EVC2):c.3659+14C>G
|
|
|
NM_147127.5(EVC2):c.3659+17_3659+18insGGGGA
|
|
|
NM_147127.5(EVC2):c.3659+20C>T
|
|
|
NM_147127.5(EVC2):c.3660-12C>A
|
|
|
NM_147127.5(EVC2):c.3660-12C>T
|
|
|
NM_147127.5(EVC2):c.3660-15T>C
|
|
|
NM_147127.5(EVC2):c.3660-18C>G
|
|
|
NM_147127.5(EVC2):c.3660-18C>T
|
|
|
NM_147127.5(EVC2):c.3660-5T>C
|
rs2108765328
|
|
NM_147127.5(EVC2):c.3660-6C>T
|
rs1722062295
|
|
NM_147127.5(EVC2):c.3672G>A (p.Lys1224=)
|
rs1722060400
|
|
NM_147127.5(EVC2):c.3687C>G (p.Leu1229=)
|
rs1157926409
|
|
NM_147127.5(EVC2):c.3696G>A (p.Arg1232=)
|
rs150551872
|
|
NM_147127.5(EVC2):c.3702A>C (p.Ile1234=)
|
rs375566943
|
|
NM_147127.5(EVC2):c.3711A>G (p.Gly1237=)
|
rs2108765239
|
|
NM_147127.5(EVC2):c.3726A>G (p.Pro1242=)
|
|
|
NM_147127.5(EVC2):c.3729C>T (p.His1243=)
|
|
|
NM_147127.5(EVC2):c.3730C>T (p.Leu1244=)
|
|
|
NM_147127.5(EVC2):c.3732G>T (p.Leu1244=)
|
rs774269538
|
|
NM_147127.5(EVC2):c.3741G>A (p.Glu1247=)
|
|
|
NM_147127.5(EVC2):c.3750C>A (p.Gly1250=)
|
|
|
NM_147127.5(EVC2):c.3750C>G (p.Gly1250=)
|
|
|
NM_147127.5(EVC2):c.3762T>G (p.Pro1254=)
|
rs1260164978
|
|
NM_147127.5(EVC2):c.3774A>C (p.Val1258=)
|
|
|
NM_147127.5(EVC2):c.3774A>T (p.Val1258=)
|
rs2108765124
|
|
NM_147127.5(EVC2):c.3795A>G (p.Leu1265=)
|
|
|
NM_147127.5(EVC2):c.3796T>C (p.Leu1266=)
|
|
|
NM_147127.5(EVC2):c.379T>C (p.Leu127=)
|
|
|
NM_147127.5(EVC2):c.3810G>A (p.Glu1270=)
|
|
|
NM_147127.5(EVC2):c.3813G>A (p.Lys1271=)
|
|
|
NM_147127.5(EVC2):c.3816C>G (p.Leu1272=)
|
|
|
NM_147127.5(EVC2):c.3819T>C (p.Phe1273=)
|
|
|
NM_147127.5(EVC2):c.3822A>C (p.Ile1274=)
|
rs2108765040
|
|
NM_147127.5(EVC2):c.3822A>T (p.Ile1274=)
|
rs2108765040
|
|
NM_147127.5(EVC2):c.3849C>A (p.Ile1283=)
|
|
|
NM_147127.5(EVC2):c.3853C>T (p.Leu1285=)
|
rs2108764998
|
|
NM_147127.5(EVC2):c.3855G>A (p.Leu1285=)
|
rs1722042643
|
|
NM_147127.5(EVC2):c.3868A>C (p.Arg1290=)
|
|
|
NM_147127.5(EVC2):c.3870G>A (p.Arg1290=)
|
|
|
NM_147127.5(EVC2):c.3909G>A (p.Arg1303=)
|
rs2108764900
|
|
NM_147127.5(EVC2):c.396C>T (p.Pro132=)
|
|
|
NM_147127.5(EVC2):c.399C>T (p.Ser133=)
|
rs2151736611
|
|
NM_147127.5(EVC2):c.417A>G (p.Leu139=)
|
rs2151736587
|
|
NM_147127.5(EVC2):c.423A>G (p.Lys141=)
|
|
|
NM_147127.5(EVC2):c.426A>G (p.Arg142=)
|
|
|
NM_147127.5(EVC2):c.447C>A (p.Arg149=)
|
|
|
NM_147127.5(EVC2):c.447C>T (p.Arg149=)
|
|
|
NM_147127.5(EVC2):c.450+10_450+14del
|
rs2151736515
|
|
NM_147127.5(EVC2):c.450+12G>A
|
|
|
NM_147127.5(EVC2):c.450+15C>A
|
|
|
NM_147127.5(EVC2):c.450+15C>G
|
|
|
NM_147127.5(EVC2):c.450+15C>T
|
|
|
NM_147127.5(EVC2):c.450+16A>G
|
|
|
NM_147127.5(EVC2):c.450+17A>T
|
rs370958428
|
|
NM_147127.5(EVC2):c.450+18T>C
|
|
|
NM_147127.5(EVC2):c.450+8T>C
|
|
|
NM_147127.5(EVC2):c.450+9T>C
|
rs2151736518
|
|
NM_147127.5(EVC2):c.451-13C>T
|
|
|
NM_147127.5(EVC2):c.451-16T>C
|
|
|
NM_147127.5(EVC2):c.451-17T>C
|
|
|
NM_147127.5(EVC2):c.451-18T>G
|
|
|
NM_147127.5(EVC2):c.451-7dup
|
|
|
NM_147127.5(EVC2):c.451-8T>C
|
rs1721108385
|
|
NM_147127.5(EVC2):c.451-9T>C
|
|
|
NM_147127.5(EVC2):c.45C>G (p.Ala15=)
|
rs1285560156
|
|
NM_147127.5(EVC2):c.465A>C (p.Ser155=)
|
rs1001393610
|
|
NM_147127.5(EVC2):c.466A>C (p.Arg156=)
|
|
|
NM_147127.5(EVC2):c.486T>G (p.Ser162=)
|
|
|
NM_147127.5(EVC2):c.489A>G (p.Glu163=)
|
rs2151733929
|
|
NM_147127.5(EVC2):c.492T>C (p.Asn164=)
|
|
|
NM_147127.5(EVC2):c.495A>C (p.Gly165=)
|
|
|
NM_147127.5(EVC2):c.498A>T (p.Val166=)
|
|
|
NM_147127.5(EVC2):c.516A>G (p.Ala172=)
|
|
|
NM_147127.5(EVC2):c.517C>T (p.Leu173=)
|
rs2151733903
|
|
NM_147127.5(EVC2):c.519+20G>A
|
|
|
NM_147127.5(EVC2):c.519+7T>G
|
|
|
NM_147127.5(EVC2):c.520-10_520-8del
|
|
|
NM_147127.5(EVC2):c.520-13C>T
|
|
|
NM_147127.5(EVC2):c.520-14T>G
|
|
|
NM_147127.5(EVC2):c.520-18C>T
|
rs2151731962
|
|
NM_147127.5(EVC2):c.520-19C>G
|
|
|
NM_147127.5(EVC2):c.520-19C>T
|
|
|
NM_147127.5(EVC2):c.520-4C>G
|
|
|
NM_147127.5(EVC2):c.520-4C>T
|
rs764449545
|
|
NM_147127.5(EVC2):c.520-5C>T
|
|
|
NM_147127.5(EVC2):c.520-8T>C
|
rs2151731945
|
|
NM_147127.5(EVC2):c.520-9C>G
|
|
|
NM_147127.5(EVC2):c.525T>C (p.Ser175=)
|
|
|
NM_147127.5(EVC2):c.531G>T (p.Ser177=)
|
rs146658261
|
|
NM_147127.5(EVC2):c.543G>A (p.Gln181=)
|
|
|
NM_147127.5(EVC2):c.549C>T (p.Ala183=)
|
|
|
NM_147127.5(EVC2):c.54C>G (p.Leu18=)
|
|
|
NM_147127.5(EVC2):c.552C>T (p.Arg184=)
|
|
|
NM_147127.5(EVC2):c.573C>T (p.Asn191=)
|
|
|
NM_147127.5(EVC2):c.579G>A (p.Lys193=)
|
|
|
NM_147127.5(EVC2):c.57G>A (p.Leu19=)
|
|
|
NM_147127.5(EVC2):c.585C>T (p.Thr195=)
|
|
|
NM_147127.5(EVC2):c.588G>C (p.Ser196=)
|
|
|
NM_147127.5(EVC2):c.594C>A (p.Ala198=)
|
rs1482138140
|
|
NM_147127.5(EVC2):c.597C>T (p.Asn199=)
|
rs1003816966
|
|
NM_147127.5(EVC2):c.600C>T (p.Leu200=)
|
|
|
NM_147127.5(EVC2):c.603G>A (p.Ser201=)
|
|
|
NM_147127.5(EVC2):c.609G>A (p.Leu203=)
|
|
|
NM_147127.5(EVC2):c.60A>G (p.Ala20=)
|
|
|
NM_147127.5(EVC2):c.616C>T (p.Leu206=)
|
|
|
NM_147127.5(EVC2):c.618G>T (p.Leu206=)
|
|
|
NM_147127.5(EVC2):c.627T>A (p.Ile209=)
|
rs1415784175
|
|
NM_147127.5(EVC2):c.627T>C (p.Ile209=)
|
|
|
NM_147127.5(EVC2):c.639C>G (p.Thr213=)
|
rs1323570343
|
|
NM_147127.5(EVC2):c.648C>T (p.Asp216=)
|
rs1720936758
|
|
NM_147127.5(EVC2):c.651T>A (p.Ser217=)
|
|
|
NM_147127.5(EVC2):c.651T>C (p.Ser217=)
|
|
|
NM_147127.5(EVC2):c.657A>G (p.Gly219=)
|
|
|
NM_147127.5(EVC2):c.660C>T (p.Asn220=)
|
|
|
NM_147127.5(EVC2):c.666C>T (p.Thr222=)
|
rs372079686
|
|
NM_147127.5(EVC2):c.669G>T (p.Ser223=)
|
|
|
NM_147127.5(EVC2):c.684T>G (p.Ala228=)
|
rs2151731613
|
|
NM_147127.5(EVC2):c.696G>A (p.Lys232=)
|
|
|
NM_147127.5(EVC2):c.6C>T (p.Asp2=)
|
rs939013967
|
|
NM_147127.5(EVC2):c.706+12G>A
|
|
|
NM_147127.5(EVC2):c.706+14G>A
|
|
|
NM_147127.5(EVC2):c.707-10C>G
|
|
|
NM_147127.5(EVC2):c.707-10C>T
|
|
|
NM_147127.5(EVC2):c.707-15C>G
|
|
|
NM_147127.5(EVC2):c.707-15C>T
|
|
|
NM_147127.5(EVC2):c.707-17T>G
|
|
|
NM_147127.5(EVC2):c.707-20A>G
|
|
|
NM_147127.5(EVC2):c.707-20A>T
|
|
|
NM_147127.5(EVC2):c.707-4G>T
|
rs113806963
|
|
NM_147127.5(EVC2):c.707-6G>A
|
rs2151728173
|
|
NM_147127.5(EVC2):c.707-7T>G
|
|
|
NM_147127.5(EVC2):c.714T>C (p.Asp238=)
|
rs977594999
|
|
NM_147127.5(EVC2):c.717C>A (p.Ala239=)
|
rs2151728147
|
|
NM_147127.5(EVC2):c.726C>T (p.Val242=)
|
|
|
NM_147127.5(EVC2):c.72G>C (p.Ala24=)
|
rs2151750115
|
|
NM_147127.5(EVC2):c.733G>T (p.Ala245Ser)
|
rs530937415
|
|
NM_147127.5(EVC2):c.735A>G (p.Ala245=)
|
rs2151728120
|
|
NM_147127.5(EVC2):c.744C>T (p.Leu248=)
|
|
|
NM_147127.5(EVC2):c.771G>A (p.Glu257=)
|
|
|
NM_147127.5(EVC2):c.777C>T (p.Leu259=)
|
rs754899418
|
|
NM_147127.5(EVC2):c.789C>A (p.Ala263=)
|
|
|
NM_147127.5(EVC2):c.789C>T (p.Ala263=)
|
rs2151728052
|
|
NM_147127.5(EVC2):c.810G>A (p.Ser270=)
|
rs761317948
|
|
NM_147127.5(EVC2):c.810G>T (p.Ser270=)
|
rs761317948
|
|
NM_147127.5(EVC2):c.816+13T>C
|
|
|
NM_147127.5(EVC2):c.816+14T>A
|
|
|
NM_147127.5(EVC2):c.816+19T>C
|
|
|
NM_147127.5(EVC2):c.816+8C>G
|
rs2151727996
|
|
NM_147127.5(EVC2):c.817-10C>A
|
rs750153523
|
|
NM_147127.5(EVC2):c.817-12T>C
|
|
|
NM_147127.5(EVC2):c.817-15T>G
|
|
|
NM_147127.5(EVC2):c.817-17C>T
|
|
|
NM_147127.5(EVC2):c.817-19T>C
|
|
|
NM_147127.5(EVC2):c.817-19_817-18del
|
|
|
NM_147127.5(EVC2):c.817-5T>A
|
|
|
NM_147127.5(EVC2):c.817-5T>C
|
rs2151724161
|
|
NM_147127.5(EVC2):c.817-6T>G
|
|
|
NM_147127.5(EVC2):c.81C>G (p.Gly27=)
|
|
|
NM_147127.5(EVC2):c.828G>A (p.Gln276=)
|
|
|
NM_147127.5(EVC2):c.829C>T (p.Leu277=)
|
rs2151724132
|
|
NM_147127.5(EVC2):c.831G>A (p.Leu277=)
|
rs376314429
|
|
NM_147127.5(EVC2):c.852A>C (p.Thr284=)
|
rs1444259253
|
|
NM_147127.5(EVC2):c.852A>G (p.Thr284=)
|
rs1444259253
|
|
NM_147127.5(EVC2):c.870+10A>G
|
rs779971622
|
|
NM_147127.5(EVC2):c.870+14C>G
|
|
|
NM_147127.5(EVC2):c.870+15A>G
|
|
|
NM_147127.5(EVC2):c.870+20C>G
|
|
|
NM_147127.5(EVC2):c.870+7G>A
|
|
|
NM_147127.5(EVC2):c.871-10G>A
|
|
|
NM_147127.5(EVC2):c.871-10G>T
|
rs1474138185
|
|
NM_147127.5(EVC2):c.871-19T>A
|
|
|
NM_147127.5(EVC2):c.871-4A>G
|
|
|
NM_147127.5(EVC2):c.871-6C>T
|
|
|
NM_147127.5(EVC2):c.871-9T>C
|
|
|
NM_147127.5(EVC2):c.879G>A (p.Pro293=)
|
|
|
NM_147127.5(EVC2):c.879G>T (p.Pro293=)
|
rs150699446
|
|
NM_147127.5(EVC2):c.87C>T (p.Gly29=)
|
rs2151750094
|
|
NM_147127.5(EVC2):c.891C>T (p.Leu297=)
|
|
|
NM_147127.5(EVC2):c.897A>C (p.Ala299=)
|
rs763124334
|
|
NM_147127.5(EVC2):c.897A>G (p.Ala299=)
|
|
|
NM_147127.5(EVC2):c.903G>A (p.Gly301=)
|
rs745889694
|
|
NM_147127.5(EVC2):c.903G>T (p.Gly301=)
|
rs745889694
|
|
NM_147127.5(EVC2):c.90T>C (p.Cys30=)
|
rs1722360264
|
|
NM_147127.5(EVC2):c.927C>G (p.Ser309=)
|
rs2108900060
|
|
NM_147127.5(EVC2):c.930T>G (p.Leu310=)
|
|
|
NM_147127.5(EVC2):c.939C>G (p.Thr313=)
|
|
|
NM_147127.5(EVC2):c.939C>T (p.Thr313=)
|
rs1322685892
|
|
NM_147127.5(EVC2):c.93C>G (p.Leu31=)
|
|
|
NM_147127.5(EVC2):c.951C>T (p.Leu317=)
|
|
|
NM_147127.5(EVC2):c.954C>T (p.Phe318=)
|
|
|
NM_147127.5(EVC2):c.957C>G (p.Leu319=)
|
|
|
NM_147127.5(EVC2):c.966C>T (p.Arg322=)
|
|
|
NM_147127.5(EVC2):c.96C>T (p.Gly32=)
|
rs1722358000
|
|
NM_147127.5(EVC2):c.981G>A (p.Lys327=)
|
rs2108899931
|
|
NM_147127.5(EVC2):c.984A>G (p.Gly328=)
|
|
|
NM_147127.5(EVC2):c.987C>T (p.Asn329=)
|
rs2108899904
|
|
NM_147127.5(EVC2):c.993C>T (p.Leu331=)
|
|
|
NM_147127.5(EVC2):c.996C>T (p.Thr332=)
|
|
|
NM_153717.3(EVC):c.*1314G>A
|
rs567979829
|
|
NM_153717.3(EVC):c.*1439C>T
|
rs188270163
|
|
NM_153717.3(EVC):c.1005C>T (p.Ser335=)
|
rs895165309
|
|
NM_153717.3(EVC):c.1008C>T (p.Ser336=)
|
|
|
NM_153717.3(EVC):c.1017C>T (p.Ala339=)
|
|
|
NM_153717.3(EVC):c.1018C>A (p.Arg340=)
|
rs121908425
|
|
NM_153717.3(EVC):c.1020A>G (p.Arg340=)
|
|
|
NM_153717.3(EVC):c.1026G>A (p.Leu342=)
|
|
|
NM_153717.3(EVC):c.102G>C (p.Leu34=)
|
|
|
NM_153717.3(EVC):c.1035T>C (p.Thr345=)
|
rs2152045460
|
|
NM_153717.3(EVC):c.1041G>A (p.Thr347=)
|
rs148418233
|
|
NM_153717.3(EVC):c.1041G>T (p.Thr347=)
|
rs148418233
|
|
NM_153717.3(EVC):c.1059C>A (p.Ala353=)
|
|
|
NM_153717.3(EVC):c.105C>T (p.Gly35=)
|
rs745558003
|
|
NM_153717.3(EVC):c.1089G>A (p.Leu363=)
|
|
|
NM_153717.3(EVC):c.1089G>C (p.Leu363=)
|
|
|
NM_153717.3(EVC):c.1098+12G>C
|
|
|
NM_153717.3(EVC):c.1098+13G>C
|
|
|
NM_153717.3(EVC):c.1098+16G>A
|
|
|
NM_153717.3(EVC):c.1098+16G>T
|
|
|
NM_153717.3(EVC):c.1098+17C>T
|
|
|
NM_153717.3(EVC):c.1098+18G>T
|
|
|
NM_153717.3(EVC):c.1098+20G>C
|
|
|
NM_153717.3(EVC):c.1098+20G>T
|
|
|
NM_153717.3(EVC):c.1098+8T>C
|
|
|
NM_153717.3(EVC):c.1099-10C>A
|
rs1465530933
|
|
NM_153717.3(EVC):c.1099-14G>A
|
|
|
NM_153717.3(EVC):c.1099-20C>T
|
|
|
NM_153717.3(EVC):c.1099-21_1099-19delinsGTC
|
rs2152075906
|
|
NM_153717.3(EVC):c.1099-21_1099-20delinsGT
|
|
|
NM_153717.3(EVC):c.1099-4G>A
|
rs2152076013
|
|
NM_153717.3(EVC):c.1099-5T>C
|
rs2152076005
|
|
NM_153717.3(EVC):c.1107G>T (p.Leu369=)
|
|
|
NM_153717.3(EVC):c.1113G>A (p.Arg371=)
|
|
|
NM_153717.3(EVC):c.1116G>A (p.Thr372=)
|
rs781636545
|
|
NM_153717.3(EVC):c.1143G>C (p.Val381=)
|
rs2152076257
|
|
NM_153717.3(EVC):c.1143G>T (p.Val381=)
|
|
|
NM_153717.3(EVC):c.114C>T (p.Leu38=)
|
rs1167442380
|
|
NM_153717.3(EVC):c.1159C>T (p.Leu387=)
|
rs1577439719
|
|
NM_153717.3(EVC):c.1161G>T (p.Leu387=)
|
|
|
NM_153717.3(EVC):c.1176G>A (p.Glu392=)
|
rs752626166
|
|
NM_153717.3(EVC):c.1179C>G (p.Thr393=)
|
|
|
NM_153717.3(EVC):c.117C>A (p.Gly39=)
|
|
|
NM_153717.3(EVC):c.1189C>T (p.Leu397=)
|
|
|
NM_153717.3(EVC):c.1197C>T (p.Ala399=)
|
rs2152076403
|
|
NM_153717.3(EVC):c.1200C>A (p.Ile400=)
|
rs750816331
|
|
NM_153717.3(EVC):c.1203C>T (p.Ser401=)
|
rs867155796
|
|
NM_153717.3(EVC):c.120C>A (p.Leu40=)
|
rs1407286365
|
|
NM_153717.3(EVC):c.120C>G (p.Leu40=)
|
|
|
NM_153717.3(EVC):c.120C>T (p.Leu40=)
|
|
|
NM_153717.3(EVC):c.1210C>T (p.Leu404=)
|
rs2152076460
|
|
NM_153717.3(EVC):c.1215G>A (p.Glu405=)
|
|
|
NM_153717.3(EVC):c.1218G>C (p.Leu406=)
|
rs2152076473
|
|
NM_153717.3(EVC):c.1218G>T (p.Leu406=)
|
rs2152076473
|
|
NM_153717.3(EVC):c.1230G>A (p.Glu410=)
|
|
|
NM_153717.3(EVC):c.1239G>C (p.Leu413=)
|
|
|
NM_153717.3(EVC):c.123C>A (p.Gly41=)
|
|
|
NM_153717.3(EVC):c.1246C>A (p.Arg416=)
|
rs113986714
|
|
NM_153717.3(EVC):c.1261C>T (p.Leu421=)
|
rs775388162
|
|
NM_153717.3(EVC):c.1266C>G (p.Leu422=)
|
rs2152076665
|
|
NM_153717.3(EVC):c.1266C>T (p.Leu422=)
|
rs2152076665
|
|
NM_153717.3(EVC):c.126C>G (p.Leu42=)
|
|
|
NM_153717.3(EVC):c.126C>T (p.Leu42=)
|
|
|
NM_153717.3(EVC):c.1287C>T (p.Phe429=)
|
rs2152076737
|
|
NM_153717.3(EVC):c.1304G>A (p.Arg435His)
|
|
|
NM_153717.3(EVC):c.1311C>T (p.Ser437=)
|
|
|
NM_153717.3(EVC):c.1312C>A (p.Arg438=)
|
|
|
NM_153717.3(EVC):c.1315+11G>C
|
|
|
NM_153717.3(EVC):c.1315+14A>G
|
|
|
NM_153717.3(EVC):c.1315+16_1315+27del
|
|
|
NM_153717.3(EVC):c.1315+8G>T
|
|
|
NM_153717.3(EVC):c.1316-14T>C
|
|
|
NM_153717.3(EVC):c.1316-20G>A
|
|
|
NM_153717.3(EVC):c.1316-20G>T
|
|
|
NM_153717.3(EVC):c.1316-4C>T
|
|
|
NM_153717.3(EVC):c.1327C>A (p.Arg443=)
|
|
|
NM_153717.3(EVC):c.1344C>T (p.Val448=)
|
rs2152081344
|
|
NM_153717.3(EVC):c.1347G>A (p.Thr449=)
|
|
|
NM_153717.3(EVC):c.1383A>G (p.Lys461=)
|
|
|
NM_153717.3(EVC):c.1398A>G (p.Gln466=)
|
|
|
NM_153717.3(EVC):c.1404G>A (p.Glu468=)
|
|
|
NM_153717.3(EVC):c.1407A>G (p.Glu469=)
|
rs755691949
|
|
NM_153717.3(EVC):c.1425T>C (p.Ala475=)
|
rs2152081868
|
|
NM_153717.3(EVC):c.1428G>A (p.Glu476=)
|
|
|
NM_153717.3(EVC):c.1434G>A (p.Gln478=)
|
|
|
NM_153717.3(EVC):c.1437G>A (p.Pro479=)
|
rs112861104
|
|
NM_153717.3(EVC):c.1437G>T (p.Pro479=)
|
rs112861104
|
|
NM_153717.3(EVC):c.1440T>C (p.Thr480=)
|
|
|
NM_153717.3(EVC):c.1449G>A (p.Pro483=)
|
|
|
NM_153717.3(EVC):c.1452A>G (p.Glu484=)
|
|
|
NM_153717.3(EVC):c.1464+12C>A
|
|
|
NM_153717.3(EVC):c.1464+12C>G
|
rs753296851
|
|
NM_153717.3(EVC):c.1464+19C>T
|
|
|
NM_153717.3(EVC):c.1464+20T>C
|
rs886038740
|
|
NM_153717.3(EVC):c.1464+7C>G
|
|
|
NM_153717.3(EVC):c.1464+8A>T
|
rs116236414
|
|
NM_153717.3(EVC):c.1465-12T>G
|
|
|
NM_153717.3(EVC):c.1465-13G>A
|
|
|
NM_153717.3(EVC):c.1465-15_1465-14del
|
|
|
NM_153717.3(EVC):c.1465-15_1465-14dup
|
|
|
NM_153717.3(EVC):c.1465-18C>T
|
|
|
NM_153717.3(EVC):c.1465-4A>G
|
|
|
NM_153717.3(EVC):c.1465-5C>A
|
|
|
NM_153717.3(EVC):c.1465-7C>T
|
|
|
NM_153717.3(EVC):c.1465-8C>T
|
|
|
NM_153717.3(EVC):c.1465-9T>C
|
|
|
NM_153717.3(EVC):c.1473T>C (p.His491=)
|
|
|
NM_153717.3(EVC):c.1479C>T (p.Val493=)
|
|
|
NM_153717.3(EVC):c.147C>A (p.Arg49=)
|
rs1723020172
|
|
NM_153717.3(EVC):c.1482G>C (p.Leu494=)
|
|
|
NM_153717.3(EVC):c.14G>T (p.Gly5Val)
|
|
|
NM_153717.3(EVC):c.150G>C (p.Ala50=)
|
rs1257185745
|
|
NM_153717.3(EVC):c.1512G>A (p.Leu504=)
|
|
|
NM_153717.3(EVC):c.1524G>A (p.Glu508=)
|
rs2152094941
|
|
NM_153717.3(EVC):c.1528G>A (p.Val510Ile)
|
rs143971158
|
|
NM_153717.3(EVC):c.1531A>C (p.Arg511=)
|
rs2152094988
|
|
NM_153717.3(EVC):c.1563+10C>T
|
rs2152095141
|
|
NM_153717.3(EVC):c.1563+13T>C
|
|
|
NM_153717.3(EVC):c.1563+14G>A
|
|
|
NM_153717.3(EVC):c.1563+15T>G
|
|
|
NM_153717.3(EVC):c.1563+16G>A
|
|
|
NM_153717.3(EVC):c.1563+216C>A
|
rs1194963469
|
|
NM_153717.3(EVC):c.1563+7G>A
|
|
|
NM_153717.3(EVC):c.1564-10T>G
|
|
|
NM_153717.3(EVC):c.1564-15G>T
|
|
|
NM_153717.3(EVC):c.1564-19C>G
|
|
|
NM_153717.3(EVC):c.1564-7G>C
|
|
|
NM_153717.3(EVC):c.1564-7G>T
|
|
|
NM_153717.3(EVC):c.1564-9C>T
|
rs1361893356
|
|
NM_153717.3(EVC):c.1569G>C (p.Leu523=)
|
|
|
NM_153717.3(EVC):c.1572C>T (p.Tyr524=)
|
rs1735952327
|
|
NM_153717.3(EVC):c.1578C>T (p.Ser526=)
|
|
|
NM_153717.3(EVC):c.1593C>T (p.Phe531=)
|
rs771775185
|
|
NM_153717.3(EVC):c.1605G>A (p.Val535=)
|
|
|
NM_153717.3(EVC):c.1611C>T (p.Ala537=)
|
rs765193502
|
|
NM_153717.3(EVC):c.1612C>T (p.Leu538=)
|
|
|
NM_153717.3(EVC):c.1623G>A (p.Gln541=)
|
rs2152288778
|
|
NM_153717.3(EVC):c.1626G>A (p.Thr542=)
|
|
|
NM_153717.3(EVC):c.1629C>G (p.Leu543=)
|
rs1735963741
|
|
NM_153717.3(EVC):c.162C>T (p.Arg54=)
|
rs1305323625
|
|
NM_153717.3(EVC):c.1635C>T (p.Gly545=)
|
rs781699320
|
|
NM_153717.3(EVC):c.1641T>C (p.Thr547=)
|
rs2152288859
|
|
NM_153717.3(EVC):c.1647C>A (p.Leu549=)
|
rs756674302
|
|
NM_153717.3(EVC):c.1647C>G (p.Leu549=)
|
|
|
NM_153717.3(EVC):c.1650C>A (p.Pro550=)
|
rs1187336928
|
|
NM_153717.3(EVC):c.1656A>G (p.Glu552=)
|
|
|
NM_153717.3(EVC):c.1662T>C (p.Cys554=)
|
rs2152288989
|
|
NM_153717.3(EVC):c.1665C>T (p.Asp555=)
|
|
|
NM_153717.3(EVC):c.1677G>A (p.Gln559=)
|
|
|
NM_153717.3(EVC):c.1683C>A (p.Val561=)
|
|
|
NM_153717.3(EVC):c.1683C>G (p.Val561=)
|
rs913909906
|
|
NM_153717.3(EVC):c.1689G>A (p.Glu563=)
|
|
|
NM_153717.3(EVC):c.1696G>A (p.Ala566Thr)
|
rs144943762
|
|
NM_153717.3(EVC):c.1698C>G (p.Ala566=)
|
rs911132556
|
|
NM_153717.3(EVC):c.1725C>T (p.Phe575=)
|
|
|
NM_153717.3(EVC):c.1737G>A (p.Gln579=)
|
rs768788576
|
|
NM_153717.3(EVC):c.174+11C>G
|
|
|
NM_153717.3(EVC):c.174+12G>A
|
|
|
NM_153717.3(EVC):c.174+14G>A
|
|
|
NM_153717.3(EVC):c.174+16_174+30del
|
|
|
NM_153717.3(EVC):c.174+7C>G
|
|
|
NM_153717.3(EVC):c.174+7C>T
|
rs1577297959
|
|
NM_153717.3(EVC):c.174+8G>C
|
|
|
NM_153717.3(EVC):c.1743A>G (p.Lys581=)
|
|
|
NM_153717.3(EVC):c.1746C>A (p.Leu582=)
|
rs1029833383
|
|
NM_153717.3(EVC):c.175-19C>G
|
|
|
NM_153717.3(EVC):c.175-19C>T
|
|
|
NM_153717.3(EVC):c.175-20T>C
|
|
|
NM_153717.3(EVC):c.175-9G>C
|
rs753317536
|
|
NM_153717.3(EVC):c.1761A>C (p.Leu587=)
|
|
|
NM_153717.3(EVC):c.1776+7G>A
|
rs750719632
|
|
NM_153717.3(EVC):c.1776+7del
|
rs540001390
|
|
NM_153717.3(EVC):c.1776+8C>G
|
rs761163369
|
|
NM_153717.3(EVC):c.1776+8C>T
|
|
|
NM_153717.3(EVC):c.1776+9A>G
|
rs2152289531
|
|
NM_153717.3(EVC):c.1777-13G>C
|
|
|
NM_153717.3(EVC):c.1777-15C>G
|
|
|
NM_153717.3(EVC):c.1777-17C>G
|
|
|
NM_153717.3(EVC):c.1777-19C>T
|
|
|
NM_153717.3(EVC):c.1777-9C>G
|
|
|
NM_153717.3(EVC):c.1777-9C>T
|
rs113468936
|
|
NM_153717.3(EVC):c.1779G>A (p.Val593=)
|
|
|
NM_153717.3(EVC):c.1788G>A (p.Glu596=)
|
rs2152326451
|
|
NM_153717.3(EVC):c.1791G>A (p.Glu597=)
|
rs1577599969
|
|
NM_153717.3(EVC):c.1800G>C (p.Leu600=)
|
rs1713204688
|
|
NM_153717.3(EVC):c.1800G>T (p.Leu600=)
|
|
|
NM_153717.3(EVC):c.1803C>T (p.Ser601=)
|
rs2152326514
|
|
NM_153717.3(EVC):c.1812G>A (p.Leu604=)
|
|
|
NM_153717.3(EVC):c.1821C>T (p.His607=)
|
rs779056864
|
|
NM_153717.3(EVC):c.1825C>A (p.Arg609=)
|
|
|
NM_153717.3(EVC):c.1827G>A (p.Arg609=)
|
|
|
NM_153717.3(EVC):c.1830G>A (p.Glu610=)
|
|
|
NM_153717.3(EVC):c.1851C>A (p.Arg617=)
|
|
|
NM_153717.3(EVC):c.1851C>T (p.Arg617=)
|
rs967986192
|
|
NM_153717.3(EVC):c.1854C>A (p.Gly618=)
|
rs11737221
|
|
NM_153717.3(EVC):c.1857C>G (p.Val619=)
|
rs2152326683
|
|
NM_153717.3(EVC):c.1857C>T (p.Val619=)
|
rs2152326683
|
|
NM_153717.3(EVC):c.1886+11C>T
|
|
|
NM_153717.3(EVC):c.1886+13C>T
|
|
|
NM_153717.3(EVC):c.1886+16T>C
|
|
|
NM_153717.3(EVC):c.1886+17G>C
|
|
|
NM_153717.3(EVC):c.1886+7A>G
|
rs2152326793
|
|
NM_153717.3(EVC):c.1887-19T>G
|
|
|
NM_153717.3(EVC):c.1887-4A>C
|
rs2152340153
|
|
NM_153717.3(EVC):c.1887-5C>T
|
|
|
NM_153717.3(EVC):c.1890C>T (p.Ser630=)
|
rs2152340181
|
|
NM_153717.3(EVC):c.1893G>A (p.Thr631=)
|
rs1017858503
|
|
NM_153717.3(EVC):c.1893G>T (p.Thr631=)
|
rs1017858503
|
|
NM_153717.3(EVC):c.1896G>C (p.Arg632=)
|
rs758327867
|
|
NM_153717.3(EVC):c.1905G>T (p.Leu635=)
|
rs777640312
|
|
NM_153717.3(EVC):c.1917C>T (p.Asp639=)
|
rs1242667817
|
|
NM_153717.3(EVC):c.1923G>A (p.Leu641=)
|
|
|
NM_153717.3(EVC):c.1926G>A (p.Leu642=)
|
rs1191617444
|
|
NM_153717.3(EVC):c.1935C>T (p.Ala645=)
|
rs1412137397
|
|
NM_153717.3(EVC):c.1938C>T (p.Leu646=)
|
|
|
NM_153717.3(EVC):c.1939C>A (p.Arg647=)
|
|
|
NM_153717.3(EVC):c.1940G>A (p.Arg647Gln)
|
rs35401386
|
|
NM_153717.3(EVC):c.1941G>A (p.Arg647=)
|
|
|
NM_153717.3(EVC):c.1944G>A (p.Arg648=)
|
rs1577616662
|
|
NM_153717.3(EVC):c.195G>T (p.Leu65=)
|
|
|
NM_153717.3(EVC):c.1965C>A (p.Ala655=)
|
rs757251724
|
|
NM_153717.3(EVC):c.1966C>T (p.Leu656=)
|
rs2152340488
|
|
NM_153717.3(EVC):c.1968G>A (p.Leu656=)
|
|
|
NM_153717.3(EVC):c.1971C>T (p.Ala657=)
|
rs2152340517
|
|
NM_153717.3(EVC):c.1983G>A (p.Gln661=)
|
|
|
NM_153717.3(EVC):c.198C>T (p.Leu66=)
|
|
|
NM_153717.3(EVC):c.1995G>T (p.Ser665=)
|
rs142897994
|
|
NM_153717.3(EVC):c.1998G>A (p.Gly666=)
|
rs772759204
|
|
NM_153717.3(EVC):c.2004G>A (p.Lys668=)
|
rs759187395
|
|
NM_153717.3(EVC):c.2013G>A (p.Leu671=)
|
|
|
NM_153717.3(EVC):c.2019G>A (p.Glu673=)
|
|
|
NM_153717.3(EVC):c.2023C>A (p.Arg675=)
|
rs372267517
|
|
NM_153717.3(EVC):c.2025G>T (p.Arg675=)
|
rs1714120141
|
|
NM_153717.3(EVC):c.2043G>A (p.Glu681=)
|
|
|
NM_153717.3(EVC):c.2055C>T (p.Ser685=)
|
|
|
NM_153717.3(EVC):c.205T>C (p.Leu69=)
|
|
|
NM_153717.3(EVC):c.2067C>T (p.Asp689=)
|
rs768403488
|
|
NM_153717.3(EVC):c.2076G>A (p.Gln692=)
|
rs1714131544
|
|
NM_153717.3(EVC):c.207G>A (p.Leu69=)
|
rs2151841946
|
|
NM_153717.3(EVC):c.2085G>C (p.Leu695=)
|
|
|
NM_153717.3(EVC):c.2094C>A (p.Ala698=)
|
|
|
NM_153717.3(EVC):c.2094C>G (p.Ala698=)
|
|
|
NM_153717.3(EVC):c.2094C>T (p.Ala698=)
|
|
|
NM_153717.3(EVC):c.2097+10G>T
|
|
|
NM_153717.3(EVC):c.2097+12A>G
|
rs112766640
|
|
NM_153717.3(EVC):c.2098-13C>G
|
|
|
NM_153717.3(EVC):c.2098-20C>T
|
|
|
NM_153717.3(EVC):c.2098-5C>G
|
rs747808287
|
|
NM_153717.3(EVC):c.2098-7C>G
|
rs1448028337
|
|
NM_153717.3(EVC):c.2098-8C>T
|
rs1560427583
|
|
NM_153717.3(EVC):c.2110C>T (p.Leu704=)
|
rs1714403171
|
|
NM_153717.3(EVC):c.2112G>A (p.Leu704=)
|
|
|
NM_153717.3(EVC):c.2115G>A (p.Glu705=)
|
|
|
NM_153717.3(EVC):c.2118G>A (p.Glu706=)
|
|
|
NM_153717.3(EVC):c.2127G>A (p.Arg709=)
|
|
|
NM_153717.3(EVC):c.213T>C (p.Ser71=)
|
|
|
NM_153717.3(EVC):c.2152C>A (p.Arg718=)
|
rs778287269
|
|
NM_153717.3(EVC):c.2154G>A (p.Arg718=)
|
rs1714415040
|
|
NM_153717.3(EVC):c.2154G>T (p.Arg718=)
|
|
|
NM_153717.3(EVC):c.2155C>T (p.Leu719=)
|
rs1236823435
|
|
NM_153717.3(EVC):c.2157G>A (p.Leu719=)
|
rs1024015517
|
|
NM_153717.3(EVC):c.2187C>A (p.Ala729=)
|
|
|
NM_153717.3(EVC):c.2196G>A (p.Val732=)
|
|
|
NM_153717.3(EVC):c.2199G>A (p.Gly733=)
|
|
|
NM_153717.3(EVC):c.2199G>C (p.Gly733=)
|
|
|
NM_153717.3(EVC):c.219G>T (p.Ala73=)
|
|
|
NM_153717.3(EVC):c.21C>G (p.Ala7=)
|
|
|
NM_153717.3(EVC):c.2208G>A (p.Leu736=)
|
rs2152345788
|
|
NM_153717.3(EVC):c.2217C>T (p.His739=)
|
rs2152345808
|
|
NM_153717.3(EVC):c.221_222delinsCA (p.Gln74Pro)
|
|
|
NM_153717.3(EVC):c.222G>A (p.Gln74=)
|
|
|
NM_153717.3(EVC):c.2238G>A (p.Gln746=)
|
|
|
NM_153717.3(EVC):c.2247G>A (p.Leu749=)
|
|
|
NM_153717.3(EVC):c.2256A>G (p.Ala752=)
|
rs746682279
|
|
NM_153717.3(EVC):c.2258G>A (p.Arg753Gln)
|
|
|
NM_153717.3(EVC):c.225C>A (p.Thr75=)
|
|
|
NM_153717.3(EVC):c.225C>G (p.Thr75=)
|
|
|
NM_153717.3(EVC):c.2262T>C (p.Asn754=)
|
rs1714441484
|
|
NM_153717.3(EVC):c.2265A>C (p.Ala755=)
|
|
|
NM_153717.3(EVC):c.2271C>A (p.Thr757=)
|
rs918804667
|
|
NM_153717.3(EVC):c.2274G>A (p.Lys758=)
|
rs199611644
|
|
NM_153717.3(EVC):c.2289C>T (p.Asp763=)
|
rs2152346031
|
|
NM_153717.3(EVC):c.228C>G (p.Pro76=)
|
|
|
NM_153717.3(EVC):c.2295T>C (p.Asp765=)
|
rs2152346059
|
|
NM_153717.3(EVC):c.2304+10G>C
|
|
|
NM_153717.3(EVC):c.2304+10G>T
|
|
|
NM_153717.3(EVC):c.2304+15_2304+16del
|
|
|
NM_153717.3(EVC):c.2304+19C>T
|
|
|
NM_153717.3(EVC):c.2304+8C>G
|
|
|
NM_153717.3(EVC):c.2304+9T>A
|
rs2152346132
|
|
NM_153717.3(EVC):c.2305-13T>C
|
|
|
NM_153717.3(EVC):c.2305-15C>T
|
|
|
NM_153717.3(EVC):c.2305-17T>C
|
|
|
NM_153717.3(EVC):c.2305-19C>A
|
|
|
NM_153717.3(EVC):c.2305-19C>T
|
|
|
NM_153717.3(EVC):c.2305-8_2305-7delinsCT
|
rs2152361700
|
|
NM_153717.3(EVC):c.2307G>A (p.Arg769=)
|
|
|
NM_153717.3(EVC):c.2310A>T (p.Thr770=)
|
|
|
NM_153717.3(EVC):c.2311C>T (p.Leu771=)
|
rs763546632
|
|
NM_153717.3(EVC):c.2319G>A (p.Glu773=)
|
|
|
NM_153717.3(EVC):c.2322G>A (p.Ala774=)
|
rs150373930
|
|
NM_153717.3(EVC):c.2328G>C (p.Val776=)
|
rs913233513
|
|
NM_153717.3(EVC):c.2335G>A (p.Val779Ile)
|
rs376396220
|
|
NM_153717.3(EVC):c.2340C>T (p.Tyr780=)
|
|
|
NM_153717.3(EVC):c.2346C>T (p.Thr782=)
|
|
|
NM_153717.3(EVC):c.2361C>T (p.Ser787=)
|
rs1412709981
|
|
NM_153717.3(EVC):c.2367G>A (p.Leu789=)
|
|
|
NM_153717.3(EVC):c.2370G>A (p.Val790=)
|
|
|
NM_153717.3(EVC):c.2376G>C (p.Ala792=)
|
rs1005244629
|
|
NM_153717.3(EVC):c.2388A>G (p.Gln796=)
|
|
|
NM_153717.3(EVC):c.2391C>T (p.Ile797=)
|
rs202236029
|
|
NM_153717.3(EVC):c.2409C>T (p.Asp803=)
|
|
|
NM_153717.3(EVC):c.2434C>T (p.Leu812=)
|
rs1161329338
|
|
NM_153717.3(EVC):c.243C>G (p.Ser81=)
|
|
|
NM_153717.3(EVC):c.2442C>T (p.Thr814=)
|
|
|
NM_153717.3(EVC):c.2445G>A (p.Leu815=)
|
|
|
NM_153717.3(EVC):c.2449+10C>A
|
rs758387379
|
|
NM_153717.3(EVC):c.2449+10C>G
|
|
|
NM_153717.3(EVC):c.2449+10C>T
|
rs758387379
|
|
NM_153717.3(EVC):c.2449+13C>G
|
|
|
NM_153717.3(EVC):c.2449+13C>T
|
|
|
NM_153717.3(EVC):c.2449+14C>A
|
rs374386522
|
|
NM_153717.3(EVC):c.2449+14C>G
|
rs374386522
|
|
NM_153717.3(EVC):c.2449+14C>T
|
rs374386522
|
|
NM_153717.3(EVC):c.2449+15C>G
|
|
|
NM_153717.3(EVC):c.2449+15_2449+16insA
|
|
|
NM_153717.3(EVC):c.2449+9C>A
|
|
|
NM_153717.3(EVC):c.2450-16G>A
|
|
|
NM_153717.3(EVC):c.2450-18C>T
|
|
|
NM_153717.3(EVC):c.2450-4C>T
|
rs1273594861
|
|
NM_153717.3(EVC):c.2450-7_2450-5dup
|
rs2152375058
|
|
NM_153717.3(EVC):c.2450-8T>C
|
rs1715583083
|
|
NM_153717.3(EVC):c.2454G>A (p.Glu818=)
|
rs775144960
|
|
NM_153717.3(EVC):c.2463A>G (p.Glu821=)
|
rs762865760
|
|
NM_153717.3(EVC):c.2484G>A (p.Lys828=)
|
rs2152375180
|
|
NM_153717.3(EVC):c.2487A>G (p.Gln829=)
|
rs1439220731
|
|
NM_153717.3(EVC):c.2499C>T (p.Asn833=)
|
rs2152375210
|
|
NM_153717.3(EVC):c.24C>T (p.Cys8=)
|
|
|
NM_153717.3(EVC):c.2508G>A (p.Ser836=)
|
|
|
NM_153717.3(EVC):c.2514C>T (p.Ser838=)
|
|
|
NM_153717.3(EVC):c.2520G>C (p.Thr840=)
|
rs187406722
|
|
NM_153717.3(EVC):c.2523A>C (p.Ala841=)
|
|
|
NM_153717.3(EVC):c.2547G>A (p.Gln849=)
|
rs2152375378
|
|
NM_153717.3(EVC):c.2550G>T (p.Ala850=)
|
rs754053651
|
|
NM_153717.3(EVC):c.2553C>T (p.Val851=)
|
rs2152375406
|
|
NM_153717.3(EVC):c.2556C>T (p.His852=)
|
|
|
NM_153717.3(EVC):c.2561+10C>A
|
|
|
NM_153717.3(EVC):c.2561+11A>C
|
|
|
NM_153717.3(EVC):c.2561+12A>C
|
|
|
NM_153717.3(EVC):c.2561+12_2561+23dup
|
rs1199616057
|
|
NM_153717.3(EVC):c.2561+13C>A
|
|
|
NM_153717.3(EVC):c.2561+18G>A
|
|
|
NM_153717.3(EVC):c.2561+8C>T
|
|
|
NM_153717.3(EVC):c.2562-13_2562-12delinsCC
|
rs2152387572
|
|
NM_153717.3(EVC):c.2562-18del
|
|
|
NM_153717.3(EVC):c.2562-19C>G
|
|
|
NM_153717.3(EVC):c.2562-20G>T
|
|
|
NM_153717.3(EVC):c.2562-4C>A
|
rs60082311
|
|
NM_153717.3(EVC):c.2562-4C>T
|
rs60082311
|
|
NM_153717.3(EVC):c.2562-5C>A
|
rs747812027
|
|
NM_153717.3(EVC):c.2562-6C>T
|
rs1480753304
|
|
NM_153717.3(EVC):c.2566C>T (p.Leu856=)
|
|
|
NM_153717.3(EVC):c.2577G>A (p.Gln859=)
|
|
|
NM_153717.3(EVC):c.2580G>A (p.Lys860=)
|
rs1264987350
|
|
NM_153717.3(EVC):c.2592C>G (p.Ala864=)
|
rs2152387719
|
|
NM_153717.3(EVC):c.2601A>C (p.Pro867=)
|
|
|
NM_153717.3(EVC):c.2607C>T (p.His869=)
|
rs774624157
|
|
NM_153717.3(EVC):c.2610G>A (p.Gln870=)
|
rs2152387774
|
|
NM_153717.3(EVC):c.2613G>A (p.Gln871=)
|
|
|
NM_153717.3(EVC):c.2619T>A (p.Arg873=)
|
rs1716320466
|
|
NM_153717.3(EVC):c.2620C>T (p.Leu874=)
|
|
|
NM_153717.3(EVC):c.2622G>T (p.Leu874=)
|
rs1399378301
|
|
NM_153717.3(EVC):c.2631G>A (p.Gln877=)
|
|
|
NM_153717.3(EVC):c.2637G>A (p.Gln879=)
|
|
|
NM_153717.3(EVC):c.2643A>C (p.Ala881=)
|
|
|
NM_153717.3(EVC):c.2643A>G (p.Ala881=)
|
|
|
NM_153717.3(EVC):c.264A>G (p.Arg88=)
|
rs1176423250
|
|
NM_153717.3(EVC):c.2664A>G (p.Glu888=)
|
rs1161036004
|
|
NM_153717.3(EVC):c.2676G>A (p.Glu892=)
|
rs761201243
|
|
NM_153717.3(EVC):c.2685A>G (p.Leu895=)
|
rs2152387981
|
|
NM_153717.3(EVC):c.2688+11C>A
|
|
|
NM_153717.3(EVC):c.2688+11C>T
|
|
|
NM_153717.3(EVC):c.2688+19G>A
|
|
|
NM_153717.3(EVC):c.2688+8_2688+13del
|
rs2152388021
|
|
NM_153717.3(EVC):c.2689-11_2689-8del
|
|
|
NM_153717.3(EVC):c.2689-16T>C
|
|
|
NM_153717.3(EVC):c.2689-19C>T
|
|
|
NM_153717.3(EVC):c.2689-20C>A
|
|
|
NM_153717.3(EVC):c.2709C>A (p.Ile903=)
|
rs774968451
|
|
NM_153717.3(EVC):c.2709C>T (p.Ile903=)
|
rs774968451
|
|
NM_153717.3(EVC):c.270G>A (p.Val90=)
|
|
|
NM_153717.3(EVC):c.2733A>C (p.Arg911=)
|
rs1478690927
|
|
NM_153717.3(EVC):c.2733A>G (p.Arg911=)
|
|
|
NM_153717.3(EVC):c.2739C>A (p.Pro913=)
|
|
|
NM_153717.3(EVC):c.2739C>G (p.Pro913=)
|
rs907113908
|
|
NM_153717.3(EVC):c.2739C>T (p.Pro913=)
|
rs907113908
|
|
NM_153717.3(EVC):c.2757G>T (p.Leu919=)
|
rs1219650896
|
|
NM_153717.3(EVC):c.2763T>C (p.Pro921=)
|
|
|
NM_153717.3(EVC):c.2775G>A (p.Gly925=)
|
|
|
NM_153717.3(EVC):c.2775G>C (p.Gly925=)
|
|
|
NM_153717.3(EVC):c.2782+12A>G
|
|
|
NM_153717.3(EVC):c.2782+13T>A
|
rs2152392158
|
|
NM_153717.3(EVC):c.2782+15C>T
|
|
|
NM_153717.3(EVC):c.2782+15_2782+18dup
|
|
|
NM_153717.3(EVC):c.2782+19A>T
|
|
|
NM_153717.3(EVC):c.2782+7C>A
|
rs1241416600
|
|
NM_153717.3(EVC):c.2782+8A>G
|
rs760124824
|
|
NM_153717.3(EVC):c.2783-11G>A
|
|
|
NM_153717.3(EVC):c.2783-11del
|
|
|
NM_153717.3(EVC):c.2783-4A>G
|
|
|
NM_153717.3(EVC):c.2790C>A (p.Pro930=)
|
|
|
NM_153717.3(EVC):c.2793A>C (p.Leu931=)
|
|
|
NM_153717.3(EVC):c.2793A>G (p.Leu931=)
|
|
|
NM_153717.3(EVC):c.2796G>A (p.Arg932=)
|
|
|
NM_153717.3(EVC):c.2799T>G (p.Thr933=)
|
|
|
NM_153717.3(EVC):c.279G>C (p.Ser93=)
|
|
|
NM_153717.3(EVC):c.27G>A (p.Lys9=)
|
|
|
NM_153717.3(EVC):c.2814C>G (p.Pro938=)
|
|
|
NM_153717.3(EVC):c.2817G>T (p.Leu939=)
|
rs1716697966
|
|
NM_153717.3(EVC):c.2820C>G (p.Pro940=)
|
|
|
NM_153717.3(EVC):c.2835C>T (p.Asp945=)
|
rs2152394497
|
|
NM_153717.3(EVC):c.2838G>A (p.Leu946=)
|
|
|
NM_153717.3(EVC):c.2838G>C (p.Leu946=)
|
|
|
NM_153717.3(EVC):c.2844G>T (p.Val948=)
|
|
|
NM_153717.3(EVC):c.2853T>C (p.Asn951=)
|
rs371561252
|
|
NM_153717.3(EVC):c.2859C>T (p.Asp953=)
|
|
|
NM_153717.3(EVC):c.2862T>A (p.Leu954=)
|
rs2152394578
|
|
NM_153717.3(EVC):c.2865C>T (p.Ala955=)
|
rs1333691963
|
|
NM_153717.3(EVC):c.2883A>G (p.Ser961=)
|
rs1248488328
|
|
NM_153717.3(EVC):c.2889A>G (p.Ser963=)
|
rs2152394684
|
|
NM_153717.3(EVC):c.288G>A (p.Lys96=)
|
rs1577324357
|
|
NM_153717.3(EVC):c.2892C>A (p.Leu964=)
|
|
|
NM_153717.3(EVC):c.2894+11G>T
|
|
|
NM_153717.3(EVC):c.2894+12C>T
|
|
|
NM_153717.3(EVC):c.2894+14C>T
|
|
|
NM_153717.3(EVC):c.2894+15C>T
|
|
|
NM_153717.3(EVC):c.2894+16G>A
|
|
|
NM_153717.3(EVC):c.2894+18A>T
|
|
|
NM_153717.3(EVC):c.2894+7C>G
|
rs2152394737
|
|
NM_153717.3(EVC):c.2894+8T>C
|
|
|
NM_153717.3(EVC):c.2895-10_2895-9del
|
rs371125826
|
|
NM_153717.3(EVC):c.2895-12C>G
|
|
|
NM_153717.3(EVC):c.2895-12_2895-10del
|
|
|
NM_153717.3(EVC):c.2895-16del
|
rs761097524
|
|
NM_153717.3(EVC):c.2895-20C>A
|
|
|
NM_153717.3(EVC):c.2895-20C>T
|
|
|
NM_153717.3(EVC):c.2895-8_2895-4del
|
|
|
NM_153717.3(EVC):c.2898C>T (p.Ser966=)
|
rs1716824868
|
|
NM_153717.3(EVC):c.2913G>A (p.Gln971=)
|
rs370649784
|
|
NM_153717.3(EVC):c.2916A>G (p.Gln972=)
|
rs1285231247
|
|
NM_153717.3(EVC):c.2922T>C (p.Ser974=)
|
rs2152396440
|
|
NM_153717.3(EVC):c.2925A>G (p.Glu975=)
|
rs1399872123
|
|
NM_153717.3(EVC):c.2928T>A (p.Ala976=)
|
|
|
NM_153717.3(EVC):c.2931G>T (p.Gly977=)
|
|
|
NM_153717.3(EVC):c.2934C>T (p.Asp978=)
|
rs1241792860
|
|
NM_153717.3(EVC):c.2946A>G (p.Ser982=)
|
rs1388651029
|
|
NM_153717.3(EVC):c.2973C>T (p.Asn991=)
|
|
|
NM_153717.3(EVC):c.2976G>A (p.Leu992=)
|
rs1577673719
|
|
NM_153717.3(EVC):c.2979G>A (p.Ter993=)
|
rs767957964
|
|
NM_153717.3(EVC):c.297T>G (p.Val99=)
|
|
|
NM_153717.3(EVC):c.300+14T>G
|
|
|
NM_153717.3(EVC):c.300+17T>G
|
|
|
NM_153717.3(EVC):c.300+19T>C
|
|
|
NM_153717.3(EVC):c.300+20T>C
|
|
|
NM_153717.3(EVC):c.300+24_300+27del
|
|
|
NM_153717.3(EVC):c.300+7T>A
|
|
|
NM_153717.3(EVC):c.301-10dup
|
|
|
NM_153717.3(EVC):c.301-13C>G
|
|
|
NM_153717.3(EVC):c.301-7C>T
|
rs764925850
|
|
NM_153717.3(EVC):c.301-9C>G
|
rs1726395310
|
|
NM_153717.3(EVC):c.312G>T (p.Pro104=)
|
|
|
NM_153717.3(EVC):c.31G>A (p.Asp11Asn)
|
|
|
NM_153717.3(EVC):c.333A>G (p.Thr111=)
|
|
|
NM_153717.3(EVC):c.333A>T (p.Thr111=)
|
|
|
NM_153717.3(EVC):c.354A>G (p.Lys118=)
|
rs2151919308
|
|
NM_153717.3(EVC):c.360C>A (p.Ile120=)
|
rs2151919327
|
|
NM_153717.3(EVC):c.37C>T (p.Arg13Trp)
|
|
|
NM_153717.3(EVC):c.384+10_384+12dup
|
rs2151919610
|
|
NM_153717.3(EVC):c.384+10del
|
|
|
NM_153717.3(EVC):c.384+12G>C
|
rs1192867917
|
|
NM_153717.3(EVC):c.384+15C>G
|
|
|
NM_153717.3(EVC):c.385-13A>G
|
|
|
NM_153717.3(EVC):c.385-20G>A
|
|
|
NM_153717.3(EVC):c.385-20G>T
|
|
|
NM_153717.3(EVC):c.385-6C>T
|
rs1167563102
|
|
NM_153717.3(EVC):c.385-7A>T
|
|
|
NM_153717.3(EVC):c.390G>T (p.Leu130=)
|
rs2151934901
|
|
NM_153717.3(EVC):c.393C>G (p.Ala131=)
|
|
|
NM_153717.3(EVC):c.393C>T (p.Ala131=)
|
rs374197757
|
|
NM_153717.3(EVC):c.399C>T (p.Gly133=)
|
|
|
NM_153717.3(EVC):c.39G>A (p.Arg13=)
|
rs1479357518
|
|
NM_153717.3(EVC):c.402C>T (p.Ser134=)
|
|
|
NM_153717.3(EVC):c.405C>T (p.Ser135=)
|
rs2151934982
|
|
NM_153717.3(EVC):c.411G>T (p.Pro137=)
|
|
|
NM_153717.3(EVC):c.414T>C (p.Ser138=)
|
|
|
NM_153717.3(EVC):c.417G>T (p.Leu139=)
|
|
|
NM_153717.3(EVC):c.42G>A (p.Leu14=)
|
rs1213156946
|
|
NM_153717.3(EVC):c.435G>A (p.Gln145=)
|
|
|
NM_153717.3(EVC):c.438T>C (p.Ala146=)
|
|
|
NM_153717.3(EVC):c.438T>G (p.Ala146=)
|
rs200690823
|
|
NM_153717.3(EVC):c.441T>G (p.Val147=)
|
rs1192506036
|
|
NM_153717.3(EVC):c.456G>C (p.Pro152=)
|
|
|
NM_153717.3(EVC):c.456G>T (p.Pro152=)
|
|
|
NM_153717.3(EVC):c.459A>G (p.Val153=)
|
|
|
NM_153717.3(EVC):c.462G>A (p.Glu154=)
|
rs1019139111
|
|
NM_153717.3(EVC):c.465C>G (p.Ala155=)
|
rs146706283
|
|
NM_153717.3(EVC):c.477C>T (p.Ser159=)
|
rs2151935441
|
|
NM_153717.3(EVC):c.480T>C (p.Ser160=)
|
rs2151935461
|
|
NM_153717.3(EVC):c.489C>T (p.Ser163=)
|
|
|
NM_153717.3(EVC):c.48G>A (p.Leu16=)
|
|
|
NM_153717.3(EVC):c.492G>A (p.Leu164=)
|
|
|
NM_153717.3(EVC):c.507G>A (p.Lys169=)
|
|
|
NM_153717.3(EVC):c.528C>G (p.Ser176=)
|
|
|
NM_153717.3(EVC):c.528C>T (p.Ser176=)
|
rs532386294
|
|
NM_153717.3(EVC):c.531C>T (p.Ser177=)
|
rs542910336
|
|
NM_153717.3(EVC):c.537C>T (p.His179=)
|
|
|
NM_153717.3(EVC):c.540G>T (p.Ser180=)
|
|
|
NM_153717.3(EVC):c.54G>C (p.Arg18=)
|
rs1050002700
|
|
NM_153717.3(EVC):c.54G>T (p.Arg18=)
|
rs1050002700
|
|
NM_153717.3(EVC):c.564C>G (p.Leu188=)
|
|
|
NM_153717.3(EVC):c.573C>G (p.Thr191=)
|
|
|
NM_153717.3(EVC):c.579C>T (p.Leu193=)
|
|
|
NM_153717.3(EVC):c.589G>T (p.Ala197Ser)
|
rs115507440
|
|
NM_153717.3(EVC):c.594C>T (p.Phe198=)
|
rs1224007808
|
|
NM_153717.3(EVC):c.597T>C (p.Pro199=)
|
|
|
NM_153717.3(EVC):c.603G>A (p.Val201=)
|
rs2151936107
|
|
NM_153717.3(EVC):c.604C>T (p.Leu202=)
|
|
|
NM_153717.3(EVC):c.609C>T (p.Ala203=)
|
rs2151936137
|
|
NM_153717.3(EVC):c.60G>C (p.Ala20=)
|
|
|
NM_153717.3(EVC):c.617+11C>T
|
|
|
NM_153717.3(EVC):c.617+12G>A
|
|
|
NM_153717.3(EVC):c.617+14G>T
|
|
|
NM_153717.3(EVC):c.617+15C>A
|
|
|
NM_153717.3(EVC):c.617+15C>T
|
|
|
NM_153717.3(EVC):c.617+18T>C
|
|
|
NM_153717.3(EVC):c.617+18T>G
|
|
|
NM_153717.3(EVC):c.617+19G>A
|
|
|
NM_153717.3(EVC):c.617+20G>T
|
|
|
NM_153717.3(EVC):c.618-13T>A
|
|
|
NM_153717.3(EVC):c.618-14A>C
|
rs767274362
|
|
NM_153717.3(EVC):c.618-15C>T
|
|
|
NM_153717.3(EVC):c.618-18T>G
|
|
|
NM_153717.3(EVC):c.618-19T>C
|
|
|
NM_153717.3(EVC):c.618-9A>T
|
rs2151945814
|
|
NM_153717.3(EVC):c.630C>T (p.Asp210=)
|
rs1339867475
|
|
NM_153717.3(EVC):c.633G>T (p.Leu211=)
|
|
|
NM_153717.3(EVC):c.636T>C (p.Cys212=)
|
rs2151945944
|
|
NM_153717.3(EVC):c.642C>T (p.Tyr214=)
|
rs2151945971
|
|
NM_153717.3(EVC):c.64C>A (p.Arg22=)
|
rs1267604048
|
|
NM_153717.3(EVC):c.651C>T (p.His217=)
|
|
|
NM_153717.3(EVC):c.666G>A (p.Leu222=)
|
rs1560299816
|
|
NM_153717.3(EVC):c.66G>A (p.Arg22=)
|
|
|
NM_153717.3(EVC):c.66G>C (p.Arg22=)
|
|
|
NM_153717.3(EVC):c.678G>A (p.Thr226=)
|
|
|
NM_153717.3(EVC):c.678G>C (p.Thr226=)
|
rs772621806
|
|
NM_153717.3(EVC):c.681A>G (p.Ala227=)
|
|
|
NM_153717.3(EVC):c.69G>A (p.Pro23=)
|
rs1722996127
|
|
NM_153717.3(EVC):c.702+12T>C
|
|
|
NM_153717.3(EVC):c.702+13G>A
|
|
|
NM_153717.3(EVC):c.702+15T>C
|
|
|
NM_153717.3(EVC):c.702+17G>A
|
|
|
NM_153717.3(EVC):c.702+18C>T
|
|
|
NM_153717.3(EVC):c.702+9A>T
|
rs1415648336
|
|
NM_153717.3(EVC):c.703-10T>G
|
rs1231822006
|
|
NM_153717.3(EVC):c.703-13T>A
|
|
|
NM_153717.3(EVC):c.703-15C>T
|
|
|
NM_153717.3(EVC):c.703-17T>C
|
|
|
NM_153717.3(EVC):c.703-19T>G
|
|
|
NM_153717.3(EVC):c.703-20C>T
|
|
|
NM_153717.3(EVC):c.703-5_703-4dup
|
|
|
NM_153717.3(EVC):c.703-7G>A
|
rs2152000339
|
|
NM_153717.3(EVC):c.703-8G>C
|
|
|
NM_153717.3(EVC):c.729C>T (p.Cys243=)
|
|
|
NM_153717.3(EVC):c.72G>C (p.Ala24=)
|
|
|
NM_153717.3(EVC):c.72G>T (p.Ala24=)
|
|
|
NM_153717.3(EVC):c.732C>T (p.Leu244=)
|
rs1035355173
|
|
NM_153717.3(EVC):c.73C>T (p.Pro25Ser)
|
|
|
NM_153717.3(EVC):c.747T>A (p.Pro249=)
|
|
|
NM_153717.3(EVC):c.75C>G (p.Pro25=)
|
rs1377348889
|
|
NM_153717.3(EVC):c.75C>T (p.Pro25=)
|
rs1377348889
|
|
NM_153717.3(EVC):c.765T>C (p.Asp255=)
|
rs2152000814
|
|
NM_153717.3(EVC):c.768A>G (p.Glu256=)
|
rs2152000830
|
|
NM_153717.3(EVC):c.786T>C (p.Leu262=)
|
|
|
NM_153717.3(EVC):c.792A>G (p.Lys264=)
|
rs2152001052
|
|
NM_153717.3(EVC):c.801+12A>G
|
|
|
NM_153717.3(EVC):c.801+13C>T
|
rs545838582
|
|
NM_153717.3(EVC):c.801+14C>A
|
|
|
NM_153717.3(EVC):c.801+16A>T
|
|
|
NM_153717.3(EVC):c.801+16_801+17del
|
|
|
NM_153717.3(EVC):c.802-12_802-8del
|
rs753304898
|
|
NM_153717.3(EVC):c.802-17TTC[3]
|
rs370315662
|
|
NM_153717.3(EVC):c.802-17TTC[4]
|
rs370315662
|
|
NM_153717.3(EVC):c.802-18T>C
|
|
|
NM_153717.3(EVC):c.802-19T>C
|
|
|
NM_153717.3(EVC):c.802-6C>T
|
rs773954366
|
|
NM_153717.3(EVC):c.802-9C>A
|
rs1309092985
|
|
NM_153717.3(EVC):c.802-9C>T
|
rs1309092985
|
|
NM_153717.3(EVC):c.807G>A (p.Leu269=)
|
|
|
NM_153717.3(EVC):c.813A>G (p.Glu271=)
|
|
|
NM_153717.3(EVC):c.81G>T (p.Leu27=)
|
rs2151767494
|
|
NM_153717.3(EVC):c.822G>A (p.Lys274=)
|
|
|
NM_153717.3(EVC):c.82C>T (p.Leu28=)
|
|
|
NM_153717.3(EVC):c.831G>A (p.Gln277=)
|
rs2152027341
|
|
NM_153717.3(EVC):c.834C>T (p.Val278=)
|
rs575589201
|
|
NM_153717.3(EVC):c.843A>G (p.Ser281=)
|
rs2152027396
|
|
NM_153717.3(EVC):c.846C>T (p.Asn282=)
|
|
|
NM_153717.3(EVC):c.84G>A (p.Leu28=)
|
|
|
NM_153717.3(EVC):c.858G>T (p.Ser286=)
|
|
|
NM_153717.3(EVC):c.861G>A (p.Gly287=)
|
|
|
NM_153717.3(EVC):c.870C>T (p.Asp290=)
|
|
|
NM_153717.3(EVC):c.873T>A (p.Ser291=)
|
rs1577407384
|
|
NM_153717.3(EVC):c.879C>T (p.Tyr293=)
|
|
|
NM_153717.3(EVC):c.87C>G (p.Ala29=)
|
|
|
NM_153717.3(EVC):c.87C>T (p.Ala29=)
|
|
|
NM_153717.3(EVC):c.891T>A (p.Ala297=)
|
|
|
NM_153717.3(EVC):c.903G>A (p.Lys301=)
|
rs2152027698
|
|
NM_153717.3(EVC):c.90C>T (p.Pro30=)
|
|
|
NM_153717.3(EVC):c.928C>T (p.Leu310=)
|
rs145300726
|
|
NM_153717.3(EVC):c.930A>G (p.Leu310=)
|
rs776792609
|
|
NM_153717.3(EVC):c.933C>T (p.Ile311=)
|
rs759718572
|
|
NM_153717.3(EVC):c.936T>C (p.Asp312=)
|
rs1294633111
|
|
NM_153717.3(EVC):c.939+10_939+11delinsGT
|
rs2152027986
|
|
NM_153717.3(EVC):c.939+11G>A
|
|
|
NM_153717.3(EVC):c.939+13C>A
|
|
|
NM_153717.3(EVC):c.939+16T>A
|
|
|
NM_153717.3(EVC):c.939+16T>C
|
|
|
NM_153717.3(EVC):c.939+17C>T
|
|
|
NM_153717.3(EVC):c.939+20T>A
|
|
|
NM_153717.3(EVC):c.939+9_939+10inv
|
|
|
NM_153717.3(EVC):c.93C>T (p.Ala31=)
|
rs866226288
|
|
NM_153717.3(EVC):c.940-14T>C
|
|
|
NM_153717.3(EVC):c.940-15G>A
|
|
|
NM_153717.3(EVC):c.940-15G>T
|
|
|
NM_153717.3(EVC):c.940-6T>C
|
rs2152044901
|
|
NM_153717.3(EVC):c.940-9A>G
|
rs1241925243
|
|
NM_153717.3(EVC):c.945A>G (p.Glu315=)
|
rs1057523442
|
|
NM_153717.3(EVC):c.957A>G (p.Lys319=)
|
rs2152045024
|
|
NM_153717.3(EVC):c.96G>A (p.Val32=)
|
rs2151767783
|
|
NM_153717.3(EVC):c.987G>A (p.Val329=)
|
|
|
NM_153717.3(EVC):c.990C>T (p.Asp330=)
|
rs2152045173
|
|
NM_153717.3(EVC):c.999G>A (p.Lys333=)
|
rs1729659333
|
|
NM_153717.3(EVC):c.9C>A (p.Arg3=)
|
rs1330946337
|
|