NM_006073.4(TRDN):c.1369+229C>A
|
rs9375250
|
0.92706
|
NM_006073.4(TRDN):c.1274-105A>G
|
rs7769808
|
0.92623
|
NM_006073.4(TRDN):c.1738+216C>T
|
rs1367677
|
0.86484
|
NM_006073.4(TRDN):c.485-266T>C
|
rs9385302
|
0.85914
|
NM_006073.4(TRDN):c.601C>G (p.Leu201Val)
|
rs6902416
|
0.84721
|
NM_006073.4(TRDN):c.611-321A>G
|
rs7746262
|
0.83914
|
NM_006073.4(TRDN):c.*62G>A
|
rs361508
|
0.83794
|
NM_006073.4(TRDN):c.853+243C>T
|
rs9401673
|
0.83151
|
NM_006073.4(TRDN):c.794-231C>G
|
rs4576276
|
0.82862
|
NM_006073.4(TRDN):c.794-183T>C
|
rs9375256
|
0.82842
|
NM_006073.4(TRDN):c.23-155C>T
|
rs1407220
|
0.77320
|
NM_006073.4(TRDN):c.484+1457C>T
|
rs9490795
|
0.56990
|
NM_006073.4(TRDN):c.484+921T>C
|
rs9490796
|
0.56960
|
NM_006073.4(TRDN):c.484+61C>T
|
rs12198164
|
0.56954
|
NM_006073.4(TRDN):c.484+113C>G
|
rs12196787
|
0.56951
|
NM_006073.4(TRDN):c.484+204A>T
|
rs4996639
|
0.56940
|
NM_006073.4(TRDN):c.425-155T>A
|
rs4897276
|
0.56939
|
NM_006073.4(TRDN):c.484+41C>T
|
rs12198167
|
0.56890
|
NM_006073.4(TRDN):c.1472-269G>A
|
rs6903274
|
0.53121
|
NM_006073.4(TRDN):c.383C>G (p.Thr128Ser)
|
rs9490809
|
0.50546
|
NM_006073.4(TRDN):c.392-148C>T
|
rs7450199
|
0.50546
|
NM_006073.4(TRDN):c.*61A>G
|
rs1259
|
0.49249
|
NM_006073.4(TRDN):c.1739-210G>A
|
rs10457445
|
0.45907
|
NM_006073.4(TRDN):c.2051-19G>A
|
rs7754205
|
0.42872
|
NM_006073.4(TRDN):c.*137G>A
|
rs361509
|
0.42854
|
NM_006073.4(TRDN):c.1870+109G>A
|
rs12661887
|
0.41817
|
NM_006073.4(TRDN):c.1420+84T>C
|
rs12216080
|
0.39585
|
NM_006073.4(TRDN):c.232+67C>T
|
rs2145735
|
0.37396
|
NM_006073.4(TRDN):c.1188A>G (p.Lys396=)
|
rs6901953
|
0.35392
|
NM_006073.4(TRDN):c.23-60C>T
|
rs2295732
|
0.35382
|
NM_006073.4(TRDN):c.1186+16C>T
|
rs3813328
|
0.33405
|
NM_006073.4(TRDN):c.992-203G>A
|
rs6922593
|
0.29428
|
NM_006073.4(TRDN):c.1420+93A>G
|
rs1157133
|
0.26492
|
NM_006073.4(TRDN):c.1721-127A>T
|
rs1367676
|
0.23571
|
NM_006073.4(TRDN):c.1870+94G>A
|
rs9375235
|
0.23152
|
NM_006073.4(TRDN):c.232+186C>T
|
rs13200076
|
0.18130
|
NM_006073.4(TRDN):c.22+276T>G
|
rs9490844
|
0.17703
|
NM_006073.4(TRDN):c.1257C>A (p.Asp419Glu)
|
rs17737379
|
0.17356
|
NM_006073.4(TRDN):c.1568-54T>G
|
rs2873478
|
0.17031
|
NM_006073.4(TRDN):c.1370-11C>A
|
rs9401658
|
0.16989
|
NM_006073.4(TRDN):c.1804+163G>T
|
rs9375238
|
0.16519
|
NM_006073.4(TRDN):c.1211T>G (p.Val404Gly)
|
rs28494009
|
0.16504
|
NM_006073.4(TRDN):c.1106-137A>G
|
rs17737834
|
0.15558
|
NM_006073.4(TRDN):c.1166-107A>C
|
rs9482382
|
0.15555
|
NM_006073.4(TRDN):c.1165+95G>A
|
rs56239280
|
0.15468
|
NM_006073.4(TRDN):c.1105+113C>A
|
rs73771940
|
0.15298
|
NM_006073.4(TRDN):c.932-271A>G
|
rs9490752
|
0.15159
|
NM_006073.4(TRDN):c.991+122G>A
|
rs9320937
|
0.15154
|
NM_006073.4(TRDN):c.1051+232A>C
|
rs9482386
|
0.14368
|
NM_006073.4(TRDN):c.1805-156C>T
|
rs28502524
|
0.14306
|
NM_006073.4(TRDN):c.854-237A>G
|
rs10499123
|
0.12578
|
NM_006073.4(TRDN):c.1274-290A>C
|
rs11967561
|
0.09139
|
NM_006073.4(TRDN):c.1408C>A (p.Leu470Met)
|
rs6569336
|
0.09024
|
NM_006073.4(TRDN):c.1321+39G>C
|
rs11964350
|
0.08924
|
NM_006073.3(TRDN):c.-573A>C
|
rs3813325
|
0.08644
|
NM_006073.3(TRDN):c.-459C>G
|
rs73540855
|
0.08378
|
NM_006073.4(TRDN):c.1370-83A>C
|
rs6569337
|
0.08033
|
NM_006073.4(TRDN):c.1537+30C>T
|
rs113656748
|
0.07059
|
NM_006073.4(TRDN):c.1672+221C>A
|
rs60681476
|
0.07041
|
NM_006073.4(TRDN):c.550+98A>C
|
rs17085424
|
0.06727
|
NM_006073.4(TRDN):c.232+24T>C
|
rs12193784
|
0.06493
|
NM_006073.4(TRDN):c.1537+135G>T
|
rs17735121
|
0.04848
|
NM_006073.4(TRDN):c.23-228A>C
|
rs78138459
|
0.03847
|
NM_006073.4(TRDN):c.23-227G>T
|
rs74411605
|
0.03845
|
NC_000006.12:g.123637427A>G
|
rs9490845
|
0.03801
|
NM_006073.4(TRDN):c.1976-225C>G
|
rs9490706
|
0.03786
|
NM_006073.4(TRDN):c.-135A>G
|
rs75178035
|
0.03524
|
NM_006073.4(TRDN):c.391+140T>C
|
rs7744159
|
0.03361
|
NM_006073.4(TRDN):c.424+197T>C
|
rs73536772
|
0.03357
|
NM_006073.4(TRDN):c.1805-6C>T
|
rs201544606
|
0.03259
|
NM_006073.4(TRDN):c.1105+5G>A
|
rs41284430
|
0.03253
|
NM_006073.4(TRDN):c.1805-5dup
|
rs755375052
|
0.02440
|
NM_006073.4(TRDN):c.*220C>T
|
rs77049316
|
0.01894
|
NM_006073.4(TRDN):c.1598-36G>A
|
rs7751099
|
0.01853
|
NM_006073.4(TRDN):c.1871-219C>T
|
rs113075572
|
0.01848
|
NM_006073.4(TRDN):c.1246+199C>T
|
rs12202154
|
0.01846
|
NM_006073.4(TRDN):c.1906+122T>C
|
rs73549395
|
0.01803
|
NM_006073.4(TRDN):c.1804+295A>G
|
rs73551203
|
0.01802
|
NM_006073.4(TRDN):c.1721-24T>C
|
rs7772170
|
0.01801
|
NM_006073.4(TRDN):c.484+1458G>A
|
rs75848919
|
0.01754
|
NM_006073.4(TRDN):c.1598-266G>A
|
rs73551207
|
0.01559
|
NM_006073.4(TRDN):c.1620A>G (p.Ile540Met)
|
rs7771303
|
0.01556
|
NM_006073.4(TRDN):c.424+42T>G
|
rs58111898
|
0.01365
|
NM_006073.4(TRDN):c.1096G>A (p.Ala366Thr)
|
rs35047281
|
0.01253
|
NM_006073.4(TRDN):c.1186+93T>C
|
rs148318256
|
0.01241
|
NM_006073.4(TRDN):c.1016G>A (p.Ser339Asn)
|
rs35766971
|
0.01214
|
NM_006073.4(TRDN):c.233-215C>A
|
rs112674658
|
0.01211
|
NM_006073.4(TRDN):c.1420+196T>C
|
rs62418962
|
0.01196
|
NM_006073.4(TRDN):c.992-272A>G
|
rs6902527
|
0.01014
|
NM_006073.4(TRDN):c.403G>A (p.Glu135Lys)
|
rs192289289
|
0.00900
|
NM_006073.4(TRDN):c.1136-213G>A
|
rs150729739
|
0.00821
|
NM_006073.4(TRDN):c.1471+193T>C
|
rs78119864
|
0.00820
|
NM_006073.4(TRDN):c.1322-224A>G
|
rs148246210
|
0.00807
|
NM_006073.4(TRDN):c.1831+39G>C
|
rs150228080
|
0.00773
|
NM_006073.4(TRDN):c.424+244C>G
|
rs114907207
|
0.00763
|
NM_006073.4(TRDN):c.1673-141A>G
|
rs139995898
|
0.00731
|
NM_006073.4(TRDN):c.1871-15G>A
|
rs59935057
|
0.00724
|
NM_006073.4(TRDN):c.1871-296A>G
|
rs59850790
|
0.00724
|
NM_006073.4(TRDN):c.1975+213T>C
|
rs79488030
|
0.00724
|
NM_006073.4(TRDN):c.1739-45_1739-42dup
|
rs143258292
|
0.00722
|
NM_006073.4(TRDN):c.1805-134T>C
|
rs57851599
|
0.00722
|
NM_006073.4(TRDN):c.1906+167A>G
|
rs56897615
|
0.00722
|
NM_006073.4(TRDN):c.1805-224A>G
|
rs74897366
|
0.00721
|
NM_006073.4(TRDN):c.1871-323C>T
|
rs116856903
|
0.00721
|
NM_006073.4(TRDN):c.274G>A (p.Val92Ile)
|
rs34808221
|
0.00711
|
NM_006073.4(TRDN):c.1721-203C>T
|
rs142776178
|
0.00703
|
NM_006073.4(TRDN):c.1721-92A>C
|
rs148180593
|
0.00654
|
NM_006073.4(TRDN):c.1538-13T>G
|
rs55704802
|
0.00651
|
NM_006073.4(TRDN):c.550+105del
|
rs139524395
|
0.00651
|
NM_006073.4(TRDN):c.23-69A>C
|
rs115098412
|
0.00624
|
NM_006073.4(TRDN):c.1322-179C>T
|
rs6939956
|
0.00613
|
NM_006073.4(TRDN):c.392-312T>C
|
rs141228233
|
0.00607
|
NM_006073.4(TRDN):c.853+270A>C
|
rs139389287
|
0.00552
|
NC_000006.12:g.123637165A>C
|
rs138029772
|
0.00537
|
NM_006073.4(TRDN):c.1537+280A>T
|
rs61552574
|
0.00523
|
NM_006073.4(TRDN):c.1322-130G>C
|
rs115262806
|
0.00511
|
NC_000006.12:g.123637274T>A
|
rs114536040
|
0.00509
|
NM_006073.4(TRDN):c.484+39T>C
|
rs186663059
|
0.00501
|
NM_006073.4(TRDN):c.1247-281T>C
|
rs1431285
|
0.00496
|
NM_006073.4(TRDN):c.232+189T>C
|
rs370169442
|
0.00462
|
NM_006073.4(TRDN):c.1567+19T>C
|
rs182813107
|
0.00459
|
NM_006073.4(TRDN):c.854-188T>C
|
rs118071386
|
0.00449
|
NM_006073.4(TRDN):c.1247-201C>A
|
rs113726321
|
0.00443
|
NM_006073.4(TRDN):c.1721-4A>G
|
rs60743141
|
0.00430
|
NM_006073.4(TRDN):c.23-149G>T
|
rs181307617
|
0.00417
|
NM_006073.4(TRDN):c.1166-52C>T
|
rs34907562
|
0.00404
|
NM_006073.4(TRDN):c.1625-61C>T
|
rs531233884
|
0.00358
|
NM_006073.4(TRDN):c.1421-147_1421-145dup
|
rs571908007
|
0.00346
|
NM_006073.4(TRDN):c.233-162G>A
|
rs73770167
|
0.00327
|
NM_006073.4(TRDN):c.*122T>A
|
rs73543127
|
0.00318
|
NM_006073.4(TRDN):c.391+42A>C
|
rs148949005
|
0.00313
|
NM_006073.4(TRDN):c.2014+278A>G
|
rs192939629
|
0.00308
|
NM_006073.4(TRDN):c.1510G>A (p.Gly504Ser)
|
rs150531306
|
0.00305
|
NM_006073.4(TRDN):c.1624+30G>A
|
rs115962539
|
0.00305
|
NM_006073.4(TRDN):c.1420+37T>A
|
rs563637259
|
0.00282
|
NM_006073.4(TRDN):c.854-84A>G
|
rs183008035
|
0.00278
|
NM_006073.4(TRDN):c.430C>T (p.His144Tyr)
|
rs79182520
|
0.00232
|
NM_006073.4(TRDN):c.1370-44C>T
|
rs77979174
|
0.00196
|
NM_006073.4(TRDN):c.1531C>A (p.Pro511Thr)
|
rs146935076
|
0.00183
|
NM_006073.4(TRDN):c.793+61T>C
|
rs572614305
|
0.00177
|
NM_006073.4(TRDN):c.991+94C>T
|
rs772237078
|
0.00166
|
NM_006073.4(TRDN):c.1713A>C (p.Glu571Asp)
|
rs201115952
|
0.00133
|
NM_006073.4(TRDN):c.1367A>G (p.Gln456Arg)
|
rs200243235
|
0.00128
|
NM_006073.4(TRDN):c.932-4C>G
|
rs77768246
|
0.00098
|
NM_006073.4(TRDN):c.1165+48A>G
|
rs74488301
|
0.00091
|
NM_006073.4(TRDN):c.84C>T (p.Pro28=)
|
rs145992727
|
0.00070
|
NM_006073.4(TRDN):c.277C>T (p.Arg93Cys)
|
rs370788759
|
0.00060
|
NM_006073.4(TRDN):c.-26A>G
|
rs372934247
|
0.00045
|
NM_006073.4(TRDN):c.1895G>A (p.Arg632Lys)
|
rs181571822
|
0.00044
|
NM_006073.4(TRDN):c.611-19A>T
|
rs142018848
|
0.00044
|
NM_006073.4(TRDN):c.546G>A (p.Lys182=)
|
rs377594350
|
0.00042
|
NM_006073.4(TRDN):c.1193A>T (p.Glu398Val)
|
rs374355537
|
0.00041
|
NM_006073.4(TRDN):c.1538-19T>A
|
rs142237914
|
0.00038
|
NM_006073.4(TRDN):c.1472-12G>A
|
rs375364108
|
0.00036
|
NM_006073.4(TRDN):c.367G>A (p.Asp123Asn)
|
rs201021891
|
0.00036
|
NM_006073.4(TRDN):c.*15C>T
|
rs369648462
|
0.00035
|
NM_006073.4(TRDN):c.71T>A (p.Val24Glu)
|
rs201097255
|
0.00034
|
NM_006073.4(TRDN):c.1273+31A>G
|
rs9388232
|
0.00033
|
NM_006073.4(TRDN):c.1472-13C>T
|
rs367962513
|
0.00033
|
NM_006073.4(TRDN):c.992-17T>G
|
rs189142809
|
0.00029
|
NM_006073.4(TRDN):c.1811C>T (p.Thr604Ile)
|
rs763939252
|
0.00028
|
NM_006073.4(TRDN):c.2187G>T (p.Gln729His)
|
rs373439044
|
0.00026
|
NM_006073.4(TRDN):c.1783+18G>A
|
rs374452538
|
0.00023
|
NM_006073.4(TRDN):c.375C>T (p.Asp125=)
|
rs377440434
|
0.00022
|
NM_006073.4(TRDN):c.1537+1G>A
|
rs189125299
|
0.00019
|
NM_006073.4(TRDN):c.992-28G>T
|
rs192872743
|
0.00019
|
NM_006073.4(TRDN):c.1215A>G (p.Glu405=)
|
rs939674538
|
0.00017
|
NM_006073.4(TRDN):c.419A>G (p.Lys140Arg)
|
rs200953683
|
0.00017
|
NM_006073.4(TRDN):c.1282C>T (p.Arg428Ter)
|
rs202219343
|
0.00016
|
NM_006073.4(TRDN):c.85G>A (p.Gly29Arg)
|
rs763469367
|
0.00016
|
NM_006073.4(TRDN):c.*19T>G
|
rs375670165
|
0.00015
|
NM_006073.4(TRDN):c.239C>T (p.Ser80Phe)
|
rs181287533
|
0.00015
|
NM_006073.4(TRDN):c.1627C>A (p.Gln543Lys)
|
rs9398723
|
0.00013
|
NM_006073.4(TRDN):c.591A>C (p.Glu197Asp)
|
rs751143632
|
0.00013
|
NM_006073.4(TRDN):c.300G>A (p.Thr100=)
|
rs377393927
|
0.00012
|
NM_006073.4(TRDN):c.129G>A (p.Thr43=)
|
rs373840513
|
0.00011
|
NM_006073.4(TRDN):c.23-19T>G
|
rs370102595
|
0.00011
|
NM_006073.4(TRDN):c.365A>G (p.Asp122Gly)
|
rs749353413
|
0.00011
|
NM_006073.4(TRDN):c.510A>G (p.Gly170=)
|
rs773658957
|
0.00011
|
NM_006073.4(TRDN):c.793+27G>A
|
rs189106156
|
0.00011
|
NM_006073.4(TRDN):c.125C>T (p.Thr42Met)
|
rs371627659
|
0.00010
|
NM_006073.4(TRDN):c.1951+6C>A
|
rs781510666
|
0.00010
|
NM_006073.4(TRDN):c.2093A>G (p.Asn698Ser)
|
rs377368177
|
0.00010
|
NM_006073.4(TRDN):c.1808G>C (p.Gly603Ala)
|
rs766406818
|
0.00009
|
NM_006073.4(TRDN):c.1951+15C>T
|
rs370036052
|
0.00009
|
NM_006073.4(TRDN):c.727A>G (p.Thr243Ala)
|
rs376208769
|
0.00009
|
NM_006073.4(TRDN):c.884C>T (p.Pro295Leu)
|
rs201899630
|
0.00009
|
NM_006073.4(TRDN):c.932-11G>T
|
rs954424960
|
0.00009
|
NM_006073.4(TRDN):c.1137T>G (p.Asp379Glu)
|
rs200706450
|
0.00008
|
NM_006073.4(TRDN):c.1576A>C (p.Ile526Leu)
|
rs375091695
|
0.00008
|
NM_006073.4(TRDN):c.1952-8C>T
|
rs188767077
|
0.00008
|
NM_006073.4(TRDN):c.1063G>T (p.Ala355Ser)
|
rs776657049
|
0.00007
|
NM_006073.4(TRDN):c.1187-3C>T
|
rs375421435
|
0.00007
|
NM_006073.4(TRDN):c.1673-8T>C
|
rs202183696
|
0.00007
|
NM_006073.4(TRDN):c.1801C>G (p.Pro601Ala)
|
rs376214235
|
0.00007
|
NM_006073.4(TRDN):c.1831+12C>A
|
rs368167703
|
0.00007
|
NM_006073.4(TRDN):c.1832-4C>A
|
rs539547575
|
0.00007
|
NM_006073.4(TRDN):c.728C>T (p.Thr243Ile)
|
rs769684583
|
0.00007
|
NM_006073.4(TRDN):c.1105G>A (p.Ala369Thr)
|
rs369198088
|
0.00006
|
NM_006073.4(TRDN):c.1106-8T>C
|
rs575469218
|
0.00006
|
NM_006073.4(TRDN):c.1832-15T>C
|
rs904511303
|
0.00006
|
NM_006073.4(TRDN):c.1975+8C>T
|
rs754046696
|
0.00006
|
NM_006073.4(TRDN):c.2084A>T (p.Asp695Val)
|
rs202040879
|
0.00006
|
NM_006073.4(TRDN):c.550G>T (p.Ala184Ser)
|
rs576028226
|
0.00006
|
NM_006073.4(TRDN):c.610+42A>T
|
rs79920476
|
0.00006
|
NM_006073.4(TRDN):c.613C>T (p.Gln205Ter)
|
rs397515458
|
0.00006
|
NM_006073.4(TRDN):c.797A>G (p.Gln266Arg)
|
rs200068375
|
0.00006
|
NM_006073.4(TRDN):c.1276A>C (p.Thr426Pro)
|
rs1040336692
|
0.00005
|
NM_006073.4(TRDN):c.1361T>C (p.Val454Ala)
|
rs745960330
|
0.00005
|
NM_006073.4(TRDN):c.1471+5T>C
|
rs374426512
|
0.00005
|
NM_006073.4(TRDN):c.1537+17C>T
|
rs369584691
|
0.00005
|
NM_006073.4(TRDN):c.1864A>G (p.Ser622Gly)
|
rs577376276
|
0.00005
|
NM_006073.4(TRDN):c.224A>T (p.Asn75Ile)
|
rs368939536
|
0.00005
|
NM_006073.4(TRDN):c.484+6C>G
|
rs115773202
|
0.00005
|
NM_006073.4(TRDN):c.52G>C (p.Asp18His)
|
rs372554839
|
0.00005
|
NM_006073.4(TRDN):c.94C>T (p.Leu32=)
|
rs755548582
|
0.00005
|
NM_006073.4(TRDN):c.1011G>A (p.Lys337=)
|
rs886039062
|
0.00004
|
NM_006073.4(TRDN):c.1035T>C (p.Ile345=)
|
rs376370234
|
0.00004
|
NM_006073.4(TRDN):c.1136-1G>A
|
rs769776218
|
0.00004
|
NM_006073.4(TRDN):c.1156C>A (p.Pro386Thr)
|
rs555383967
|
0.00004
|
NM_006073.4(TRDN):c.1219+4A>G
|
rs189551080
|
0.00004
|
NM_006073.4(TRDN):c.1322-10T>A
|
rs764565579
|
0.00004
|
NM_006073.4(TRDN):c.1420+20A>G
|
rs1274691409
|
0.00004
|
NM_006073.4(TRDN):c.1568-4T>A
|
rs764779610
|
0.00004
|
NM_006073.4(TRDN):c.1589C>G (p.Ala530Gly)
|
rs367716594
|
0.00004
|
NM_006073.4(TRDN):c.1598-6T>G
|
rs554635684
|
0.00004
|
NM_006073.4(TRDN):c.1683T>C (p.Val561=)
|
rs777229118
|
0.00004
|
NM_006073.4(TRDN):c.1932A>G (p.Gln644=)
|
rs976397587
|
0.00004
|
NM_006073.4(TRDN):c.1967G>A (p.Arg656Lys)
|
rs1028703114
|
0.00004
|
NM_006073.4(TRDN):c.2131C>T (p.Arg711Cys)
|
rs373408498
|
0.00004
|
NM_006073.4(TRDN):c.2132G>A (p.Arg711His)
|
rs763375903
|
0.00004
|
NM_006073.4(TRDN):c.2135C>T (p.Pro712Leu)
|
rs761888858
|
0.00004
|
NM_006073.4(TRDN):c.2138G>A (p.Gly713Glu)
|
rs536487170
|
0.00004
|
NM_006073.4(TRDN):c.2179C>T (p.Gln727Ter)
|
rs201041981
|
0.00004
|
NM_006073.4(TRDN):c.348T>G (p.Ser116=)
|
rs746361154
|
0.00004
|
NM_006073.4(TRDN):c.352G>T (p.Asp118Tyr)
|
rs762075230
|
0.00004
|
NM_006073.4(TRDN):c.376G>A (p.Glu126Lys)
|
rs539743603
|
0.00004
|
NM_006073.4(TRDN):c.540T>C (p.Pro180=)
|
rs765743451
|
0.00004
|
NM_006073.4(TRDN):c.575A>C (p.Lys192Thr)
|
rs777796676
|
0.00004
|
NM_006073.4(TRDN):c.825C>T (p.Asp275=)
|
rs375079402
|
0.00004
|
NM_006073.4(TRDN):c.991G>A (p.Glu331Lys)
|
rs763851599
|
0.00004
|
NM_006073.4(TRDN):c.1019A>G (p.Glu340Gly)
|
rs745751151
|
0.00003
|
NM_006073.4(TRDN):c.1186+13A>T
|
rs374832854
|
0.00003
|
NM_006073.4(TRDN):c.126G>A (p.Thr42=)
|
rs774324909
|
0.00003
|
NM_006073.4(TRDN):c.1273+16T>C
|
rs1055067085
|
0.00003
|
NM_006073.4(TRDN):c.1321+15A>G
|
rs373855431
|
0.00003
|
NM_006073.4(TRDN):c.1369+9A>G
|
rs373926690
|
0.00003
|
NM_006073.4(TRDN):c.1420+1G>T
|
rs1375657667
|
0.00003
|
NM_006073.4(TRDN):c.1420+7G>A
|
rs1468907376
|
0.00003
|
NM_006073.4(TRDN):c.1421-20T>C
|
rs1018226745
|
0.00003
|
NM_006073.4(TRDN):c.1601T>G (p.Ile534Arg)
|
rs926868398
|
0.00003
|
NM_006073.4(TRDN):c.1651A>G (p.Thr551Ala)
|
rs1304157111
|
0.00003
|
NM_006073.4(TRDN):c.1672+8G>T
|
rs372811049
|
0.00003
|
NM_006073.4(TRDN):c.1708A>G (p.Ile570Val)
|
rs915231524
|
0.00003
|
NM_006073.4(TRDN):c.1733C>A (p.Pro578Gln)
|
rs761240477
|
0.00003
|
NM_006073.4(TRDN):c.1754G>A (p.Arg585Gln)
|
rs199986608
|
0.00003
|
NM_006073.4(TRDN):c.1783G>A (p.Asp595Asn)
|
rs771170294
|
0.00003
|
NM_006073.4(TRDN):c.196G>T (p.Val66Phe)
|
rs372169818
|
0.00003
|
NM_006073.4(TRDN):c.1980T>C (p.Asp660=)
|
rs1219746479
|
0.00003
|
NM_006073.4(TRDN):c.2050+16G>A
|
rs543899749
|
0.00003
|
NM_006073.4(TRDN):c.2073T>C (p.Cys691=)
|
rs776628762
|
0.00003
|
NM_006073.4(TRDN):c.2143A>G (p.Ser715Gly)
|
rs768748530
|
0.00003
|
NM_006073.4(TRDN):c.22+29A>G
|
rs774068079
|
0.00003
|
NM_006073.4(TRDN):c.22+8T>C
|
rs754212646
|
0.00003
|
NM_006073.4(TRDN):c.25A>G (p.Asn9Asp)
|
rs768303943
|
0.00003
|
NM_006073.4(TRDN):c.32C>T (p.Ser11Phe)
|
rs760549842
|
0.00003
|
NM_006073.4(TRDN):c.46G>C (p.Val16Leu)
|
rs974343553
|
0.00003
|
NM_006073.4(TRDN):c.592A>G (p.Thr198Ala)
|
rs952211002
|
0.00003
|
NM_006073.4(TRDN):c.610+20T>G
|
rs1236681855
|
0.00003
|
NM_006073.4(TRDN):c.611-10C>T
|
rs908084983
|
0.00003
|
NM_006073.4(TRDN):c.611-14T>A
|
rs181140338
|
0.00003
|
NM_006073.4(TRDN):c.931+19C>T
|
rs1319851680
|
0.00003
|
NM_006073.4(TRDN):c.1043A>G (p.Glu348Gly)
|
rs755708624
|
0.00002
|
NM_006073.4(TRDN):c.1098A>C (p.Ala366=)
|
rs1425417640
|
0.00002
|
NM_006073.4(TRDN):c.110C>T (p.Thr37Ile)
|
rs1289581577
|
0.00002
|
NM_006073.4(TRDN):c.117C>T (p.Asp39=)
|
rs750571542
|
0.00002
|
NM_006073.4(TRDN):c.1186+11G>T
|
rs1476535612
|
0.00002
|
NM_006073.4(TRDN):c.1220-3C>T
|
rs773907258
|
0.00002
|
NM_006073.4(TRDN):c.127A>G (p.Thr43Ala)
|
rs367564871
|
0.00002
|
NM_006073.4(TRDN):c.1547G>C (p.Gly516Ala)
|
rs145032876
|
0.00002
|
NM_006073.4(TRDN):c.1567G>C (p.Glu523Gln)
|
rs1319380436
|
0.00002
|
NM_006073.4(TRDN):c.1582A>G (p.Lys528Glu)
|
rs774550097
|
0.00002
|
NM_006073.4(TRDN):c.1625-17C>A
|
rs543749199
|
0.00002
|
NM_006073.4(TRDN):c.1671A>G (p.Pro557=)
|
rs935484433
|
0.00002
|
NM_006073.4(TRDN):c.1776A>C (p.Ile592=)
|
rs367716265
|
0.00002
|
NM_006073.4(TRDN):c.1871-6A>G
|
rs185268405
|
0.00002
|
NM_006073.4(TRDN):c.1934T>G (p.Leu645Ter)
|
rs747836980
|
0.00002
|
NM_006073.4(TRDN):c.1951+16G>A
|
rs377046739
|
0.00002
|
NM_006073.4(TRDN):c.1975+5G>T
|
rs899940538
|
0.00002
|
NM_006073.4(TRDN):c.1976-6C>G
|
rs368752139
|
0.00002
|
NM_006073.4(TRDN):c.1990G>A (p.Val664Ile)
|
rs756257644
|
0.00002
|
NM_006073.4(TRDN):c.2110T>A (p.Phe704Ile)
|
rs780892167
|
0.00002
|
NM_006073.4(TRDN):c.2164C>G (p.Pro722Ala)
|
rs774449661
|
0.00002
|
NM_006073.4(TRDN):c.2182G>A (p.Gly728Arg)
|
rs777497275
|
0.00002
|
NM_006073.4(TRDN):c.2185C>T (p.Gln729Ter)
|
rs769741426
|
0.00002
|
NM_006073.4(TRDN):c.439A>G (p.Lys147Glu)
|
rs554795197
|
0.00002
|
NM_006073.4(TRDN):c.484+7del
|
rs764922806
|
0.00002
|
NM_006073.4(TRDN):c.485-7T>C
|
rs921833812
|
0.00002
|
NM_006073.4(TRDN):c.551-4T>C
|
rs1413167708
|
0.00002
|
NM_006073.4(TRDN):c.605C>T (p.Ala202Val)
|
rs765653366
|
0.00002
|
NM_006073.4(TRDN):c.863C>T (p.Pro288Leu)
|
rs1408332939
|
0.00002
|
NM_006073.4(TRDN):c.931+10T>A
|
rs754118635
|
0.00002
|
NM_006073.4(TRDN):c.992-12T>C
|
rs1184620677
|
0.00002
|
NM_006073.4(TRDN):c.1018G>A (p.Glu340Lys)
|
rs778821180
|
0.00001
|
NM_006073.4(TRDN):c.1051+7C>A
|
rs767743181
|
0.00001
|
NM_006073.4(TRDN):c.1052-9del
|
rs1404718387
|
0.00001
|
NM_006073.4(TRDN):c.1060A>G (p.Lys354Glu)
|
rs761972576
|
0.00001
|
NM_006073.4(TRDN):c.1083G>C (p.Gly361=)
|
rs878854815
|
0.00001
|
NM_006073.4(TRDN):c.1101A>G (p.Ala367=)
|
rs1186052488
|
0.00001
|
NM_006073.4(TRDN):c.1106-16A>G
|
rs1195466991
|
0.00001
|
NM_006073.4(TRDN):c.1106-1G>T
|
rs969164356
|
0.00001
|
NM_006073.4(TRDN):c.1108G>A (p.Ala370Thr)
|
rs1781990629
|
0.00001
|
NM_006073.4(TRDN):c.1115A>G (p.Lys372Arg)
|
rs1259355217
|
0.00001
|
NM_006073.4(TRDN):c.1130A>G (p.Lys377Arg)
|
rs750876367
|
0.00001
|
NM_006073.4(TRDN):c.1135+10A>T
|
rs765785141
|
0.00001
|
NM_006073.4(TRDN):c.1136-14C>T
|
rs1781747541
|
0.00001
|
NM_006073.4(TRDN):c.1136-19T>C
|
rs1454829896
|
0.00001
|
NM_006073.4(TRDN):c.1136-7T>C
|
rs1060504472
|
0.00001
|
NM_006073.4(TRDN):c.1148C>T (p.Thr383Ile)
|
rs780744224
|
0.00001
|
NM_006073.4(TRDN):c.1165G>T (p.Val389Leu)
|
rs768208179
|
0.00001
|
NM_006073.4(TRDN):c.1206A>T (p.Lys402Asn)
|
rs745563456
|
0.00001
|
NM_006073.4(TRDN):c.1219+8T>A
|
rs749762696
|
0.00001
|
NM_006073.4(TRDN):c.1220-19T>G
|
rs1278216509
|
0.00001
|
NM_006073.4(TRDN):c.1222A>G (p.Lys408Glu)
|
rs771278361
|
0.00001
|
NM_006073.4(TRDN):c.1249C>G (p.Pro417Ala)
|
rs773700571
|
0.00001
|
NM_006073.4(TRDN):c.1273+4T>C
|
rs1261345499
|
0.00001
|
NM_006073.4(TRDN):c.1274-6T>A
|
rs1034356533
|
0.00001
|
NM_006073.4(TRDN):c.1283G>A (p.Arg428Gln)
|
rs371336992
|
0.00001
|
NM_006073.4(TRDN):c.1286C>A (p.Ala429Asp)
|
rs1297242196
|
0.00001
|
NM_006073.4(TRDN):c.128C>T (p.Thr43Met)
|
rs748832633
|
0.00001
|
NM_006073.4(TRDN):c.1305G>A (p.Ala435=)
|
rs1170118704
|
0.00001
|
NM_006073.4(TRDN):c.1321+1G>A
|
rs775407481
|
0.00001
|
NM_006073.4(TRDN):c.1321+2T>C
|
rs772232730
|
0.00001
|
NM_006073.4(TRDN):c.1322-2A>C
|
rs1351171945
|
0.00001
|
NM_006073.4(TRDN):c.134G>T (p.Ser45Ile)
|
rs748395950
|
0.00001
|
NM_006073.4(TRDN):c.1383A>G (p.Glu461=)
|
rs1279027887
|
0.00001
|
NM_006073.4(TRDN):c.1393A>G (p.Lys465Glu)
|
rs1779922492
|
0.00001
|
NM_006073.4(TRDN):c.1395G>C (p.Lys465Asn)
|
rs1323480717
|
0.00001
|
NM_006073.4(TRDN):c.1420+2T>C
|
rs1197905831
|
0.00001
|
NM_006073.4(TRDN):c.1421-15G>A
|
rs561559208
|
0.00001
|
NM_006073.4(TRDN):c.1471+11A>G
|
rs1562265333
|
0.00001
|
NM_006073.4(TRDN):c.1471+7T>G
|
rs766394390
|
0.00001
|
NM_006073.4(TRDN):c.1475C>T (p.Pro492Leu)
|
rs1431462819
|
0.00001
|
NM_006073.4(TRDN):c.1487A>T (p.Lys496Ile)
|
rs1219920478
|
0.00001
|
NM_006073.4(TRDN):c.1501T>A (p.Ser501Thr)
|
rs370559465
|
0.00001
|
NM_006073.4(TRDN):c.1510+10T>C
|
rs762076675
|
0.00001
|
NM_006073.4(TRDN):c.1524G>A (p.Lys508=)
|
rs373408793
|
0.00001
|
NM_006073.4(TRDN):c.1533T>C (p.Pro511=)
|
rs1216108172
|
0.00001
|
NM_006073.4(TRDN):c.1537+5G>A
|
rs1418472166
|
0.00001
|
NM_006073.4(TRDN):c.1537C>A (p.Gln513Lys)
|
rs757355311
|
0.00001
|
NM_006073.4(TRDN):c.1563G>A (p.Lys521=)
|
rs573190326
|
0.00001
|
NM_006073.4(TRDN):c.1567+18A>G
|
rs1323353333
|
0.00001
|
NM_006073.4(TRDN):c.1567+2T>C
|
rs1384476992
|
0.00001
|
NM_006073.4(TRDN):c.1569G>T (p.Glu523Asp)
|
rs1395279008
|
0.00001
|
NM_006073.4(TRDN):c.1593A>G (p.Lys531=)
|
rs769926882
|
0.00001
|
NM_006073.4(TRDN):c.1597+10G>T
|
rs150165710
|
0.00001
|
NM_006073.4(TRDN):c.1597+20A>G
|
rs1334825625
|
0.00001
|
NM_006073.4(TRDN):c.1614G>A (p.Val538=)
|
rs566498843
|
0.00001
|
NM_006073.4(TRDN):c.1622A>G (p.His541Arg)
|
rs919195476
|
0.00001
|
NM_006073.4(TRDN):c.1624+3A>G
|
rs917121544
|
0.00001
|
NM_006073.4(TRDN):c.1625-8A>G
|
rs776538507
|
0.00001
|
NM_006073.4(TRDN):c.1631A>T (p.Asp544Val)
|
rs1417883411
|
0.00001
|
NM_006073.4(TRDN):c.1660C>G (p.His554Asp)
|
rs749072053
|
0.00001
|
NM_006073.4(TRDN):c.1673-3C>G
|
rs762200112
|
0.00001
|
NM_006073.4(TRDN):c.1682T>A (p.Val561Asp)
|
rs947096255
|
0.00001
|
NM_006073.4(TRDN):c.1690C>G (p.Gln564Glu)
|
rs892905883
|
0.00001
|
NM_006073.4(TRDN):c.1695A>G (p.Val565=)
|
rs1480745340
|
0.00001
|
NM_006073.4(TRDN):c.1738+8A>G
|
rs368262681
|
0.00001
|
NM_006073.4(TRDN):c.1765C>A (p.Pro589Thr)
|
rs374035597
|
0.00001
|
NM_006073.4(TRDN):c.1766C>A (p.Pro589His)
|
rs371717903
|
0.00001
|
NM_006073.4(TRDN):c.176C>T (p.Thr59Met)
|
rs397515459
|
0.00001
|
NM_006073.4(TRDN):c.17C>T (p.Ala6Val)
|
rs764897557
|
0.00001
|
NM_006073.4(TRDN):c.1805-2A>G
|
rs1417676099
|
0.00001
|
NM_006073.4(TRDN):c.1819G>C (p.Val607Leu)
|
rs775485689
|
0.00001
|
NM_006073.4(TRDN):c.1853C>T (p.Ser618Phe)
|
rs1270608603
|
0.00001
|
NM_006073.4(TRDN):c.1870+5A>T
|
rs1041234944
|
0.00001
|
NM_006073.4(TRDN):c.1879G>C (p.Asp627His)
|
rs997711349
|
0.00001
|
NM_006073.4(TRDN):c.1904A>G (p.Lys635Arg)
|
rs1179112140
|
0.00001
|
NM_006073.4(TRDN):c.1952-10C>A
|
rs375983814
|
0.00001
|
NM_006073.4(TRDN):c.1952-5T>C
|
rs780537847
|
0.00001
|
NM_006073.4(TRDN):c.1952-6T>A
|
rs1452400104
|
0.00001
|
NM_006073.4(TRDN):c.1954G>A (p.Glu652Lys)
|
rs1194412303
|
0.00001
|
NM_006073.4(TRDN):c.1962T>G (p.Pro654=)
|
rs1021493361
|
0.00001
|
NM_006073.4(TRDN):c.1976-3T>C
|
rs934486291
|
0.00001
|
NM_006073.4(TRDN):c.2007A>G (p.Lys669=)
|
rs758215926
|
0.00001
|
NM_006073.4(TRDN):c.2015-9A>G
|
rs774914841
|
0.00001
|
NM_006073.4(TRDN):c.2027A>G (p.Asp676Gly)
|
rs1775147117
|
0.00001
|
NM_006073.4(TRDN):c.2050+9A>G
|
rs778722280
|
0.00001
|
NM_006073.4(TRDN):c.2051-6C>T
|
rs773799664
|
0.00001
|
NM_006073.4(TRDN):c.2060G>A (p.Ser687Asn)
|
rs1188001301
|
0.00001
|
NM_006073.4(TRDN):c.2074G>A (p.Val692Ile)
|
rs1208049678
|
0.00001
|
NM_006073.4(TRDN):c.2087G>A (p.Gly696Glu)
|
rs770748006
|
0.00001
|
NM_006073.4(TRDN):c.2091C>T (p.Tyr697=)
|
rs749118163
|
0.00001
|
NM_006073.4(TRDN):c.2092A>C (p.Asn698His)
|
rs777779916
|
0.00001
|
NM_006073.4(TRDN):c.2122C>T (p.Pro708Ser)
|
rs751278695
|
0.00001
|
NM_006073.4(TRDN):c.2176C>T (p.Gln726Ter)
|
rs1414689230
|
0.00001
|
NM_006073.4(TRDN):c.22+18C>T
|
rs549609889
|
0.00001
|
NM_006073.4(TRDN):c.22+4T>C
|
rs757565507
|
0.00001
|
NM_006073.4(TRDN):c.232+15A>T
|
rs769101414
|
0.00001
|
NM_006073.4(TRDN):c.232+6T>G
|
rs747825904
|
0.00001
|
NM_006073.4(TRDN):c.232+8C>A
|
rs371069080
|
0.00001
|
NM_006073.4(TRDN):c.284C>T (p.Ala95Val)
|
rs764770921
|
0.00001
|
NM_006073.4(TRDN):c.310T>A (p.Tyr104Asn)
|
rs566714157
|
0.00001
|
NM_006073.4(TRDN):c.311A>G (p.Tyr104Cys)
|
rs1345111830
|
0.00001
|
NM_006073.4(TRDN):c.335A>T (p.Asp112Val)
|
rs772376488
|
0.00001
|
NM_006073.4(TRDN):c.360A>T (p.Glu120Asp)
|
rs1433101332
|
0.00001
|
NM_006073.4(TRDN):c.371G>A (p.Gly124Asp)
|
rs1781225730
|
0.00001
|
NM_006073.4(TRDN):c.398T>C (p.Ile133Thr)
|
rs1218113277
|
0.00001
|
NM_006073.4(TRDN):c.437A>G (p.Asp146Gly)
|
rs1449421617
|
0.00001
|
NM_006073.4(TRDN):c.463G>A (p.Glu155Lys)
|
rs1386718060
|
0.00001
|
NM_006073.4(TRDN):c.480T>G (p.Thr160=)
|
rs1020844292
|
0.00001
|
NM_006073.4(TRDN):c.482A>C (p.Lys161Thr)
|
rs886039003
|
0.00001
|
NM_006073.4(TRDN):c.482A>G (p.Lys161Arg)
|
rs886039003
|
0.00001
|
NM_006073.4(TRDN):c.485-13T>C
|
rs886061034
|
0.00001
|
NM_006073.4(TRDN):c.502G>A (p.Glu168Lys)
|
rs545032318
|
0.00001
|
NM_006073.4(TRDN):c.527A>T (p.Glu176Val)
|
rs1174526334
|
0.00001
|
NM_006073.4(TRDN):c.529A>T (p.Lys177Ter)
|
rs1468290898
|
0.00001
|
NM_006073.4(TRDN):c.541G>T (p.Glu181Ter)
|
rs1198103383
|
0.00001
|
NM_006073.4(TRDN):c.558C>A (p.His186Gln)
|
rs1173699706
|
0.00001
|
NM_006073.4(TRDN):c.576A>G (p.Lys192=)
|
rs756125825
|
0.00001
|
NM_006073.4(TRDN):c.604G>A (p.Ala202Thr)
|
rs1335196025
|
0.00001
|
NM_006073.4(TRDN):c.606G>A (p.Ala202=)
|
rs1410476969
|
0.00001
|
NM_006073.4(TRDN):c.610+19A>G
|
rs1482036297
|
0.00001
|
NM_006073.4(TRDN):c.630T>A (p.Thr210=)
|
rs983727872
|
0.00001
|
NM_006073.4(TRDN):c.652A>C (p.Thr218Pro)
|
rs1778805040
|
0.00001
|
NM_006073.4(TRDN):c.665T>G (p.Val222Gly)
|
rs758037868
|
0.00001
|
NM_006073.4(TRDN):c.754G>T (p.Asp252Tyr)
|
rs749401047
|
0.00001
|
NM_006073.4(TRDN):c.755A>G (p.Asp252Gly)
|
rs969285752
|
0.00001
|
NM_006073.4(TRDN):c.762G>C (p.Glu254Asp)
|
rs746983339
|
0.00001
|
NM_006073.4(TRDN):c.804A>G (p.Ala268=)
|
rs748948862
|
0.00001
|
NM_006073.4(TRDN):c.811C>T (p.Arg271Ter)
|
rs1201954479
|
0.00001
|
NM_006073.4(TRDN):c.812G>A (p.Arg271Gln)
|
rs772783444
|
0.00001
|
NM_006073.4(TRDN):c.826A>G (p.Ile276Val)
|
rs150412658
|
0.00001
|
NM_006073.4(TRDN):c.851C>G (p.Pro284Arg)
|
rs755534468
|
0.00001
|
NM_006073.4(TRDN):c.853+3A>G
|
rs372783263
|
0.00001
|
NM_006073.4(TRDN):c.853+6C>A
|
rs1331217957
|
0.00001
|
NM_006073.4(TRDN):c.854-7T>C
|
rs762404582
|
0.00001
|
NM_006073.4(TRDN):c.885G>A (p.Pro295=)
|
rs769189541
|
0.00001
|
NM_006073.4(TRDN):c.894A>G (p.Gln298=)
|
rs1489564658
|
0.00001
|
NM_006073.4(TRDN):c.902G>A (p.Arg301Lys)
|
rs780453421
|
0.00001
|
NM_006073.4(TRDN):c.911C>T (p.Pro304Leu)
|
rs750105528
|
0.00001
|
NM_006073.4(TRDN):c.931+14T>C
|
rs1776694685
|
0.00001
|
NM_006073.4(TRDN):c.931+6T>C
|
rs913713029
|
0.00001
|
NM_006073.4(TRDN):c.947A>G (p.Lys316Arg)
|
rs1200632068
|
0.00001
|
NM_006073.4(TRDN):c.949A>G (p.Lys317Glu)
|
rs138624936
|
0.00001
|
NM_006073.4(TRDN):c.990A>G (p.Lys330=)
|
rs941068115
|
0.00001
|
NM_006073.4(TRDN):c.991+10T>G
|
rs1451400888
|
0.00001
|
NM_006073.4(TRDN):c.991+11T>G
|
rs1245038855
|
0.00001
|
NM_006073.4(TRDN):c.991+3A>G
|
rs961504074
|
0.00001
|
GRCh37/hg19 6q22.31(chr6:123424461-123826573)x3
|
|
|
GRCh37/hg19 6q22.31(chr6:123551934-123597121)x1
|
|
|
GRCh37/hg19 6q22.31(chr6:123556891-123753606)x3
|
|
|
GRCh37/hg19 6q22.31(chr6:123560579-123592852)x3
|
|
|
GRCh37/hg19 6q22.31(chr6:123560579-123669127)x3
|
|
|
GRCh37/hg19 6q22.31(chr6:123592333-123593044)x3
|
|
|
GRCh37/hg19 6q22.31(chr6:123592333-123593097)x3
|
|
|
GRCh37/hg19 6q22.31(chr6:123668347-123897071)x3
|
|
|
GRCh37/hg19 6q22.31(chr6:123786927-124034213)x1
|
|
|
GRCh37/hg19 6q22.31(chr6:123815422-123951153)x1
|
|
|
GRCh37/hg19 6q22.31(chr6:123867333-124002494)
|
|
|
NC_000006.11:g.(?_123536484)_(123959238_?)dup
|
|
|
NC_000006.11:g.(?_123539737)_(123957930_?)dup
|
|
|
NC_000006.11:g.(?_123539746)_(123833527_?)del
|
|
|
NC_000006.11:g.(?_123539746)_(123957920_?)del
|
|
|
NC_000006.11:g.(?_123539746)_(123957920_?)dup
|
|
|
NC_000006.11:g.(?_123573537)_(123573600_?)del
|
|
|
NC_000006.11:g.(?_123573537)_(123595835_?)del
|
|
|
NC_000006.11:g.(?_123580749)_(123595835_?)dup
|
|
|
NC_000006.11:g.(?_123581598)_(123581802_?)del
|
|
|
NC_000006.11:g.(?_123581737)_(123581803_?)del
|
|
|
NC_000006.11:g.(?_123581747)_(123581793_?)del
|
|
|
NC_000006.11:g.(?_123586443)_(123588916_?)dup
|
|
|
NC_000006.11:g.(?_123637582)_(123673751_?)dup
|
|
|
NC_000006.11:g.(?_123637592)_(123637650_?)del
|
|
|
NC_000006.11:g.(?_123658744)_(123760168_?)dup
|
|
|
NC_000006.11:g.(?_123687260)_(123687347_?)del
|
|
|
NC_000006.11:g.(?_123703243)_(123703312_?)del
|
|
|
NC_000006.11:g.(?_123714759)_(123786138_?)dup
|
|
|
NC_000006.11:g.(?_123759188)_(123760168_?)del
|
|
|
NC_000006.11:g.(?_123786031)_(123786148_?)del
|
|
|
NC_000006.11:g.(?_123786031)_(123786148_?)dup
|
|
|
NC_000006.11:g.(?_123818318)_(123825066_?)del
|
|
|
NC_000006.11:g.(?_123818328)_(123825056_?)del
|
|
|
NC_000006.11:g.(?_123833428)_(123837371_?)del
|
|
|
NC_000006.11:g.(?_123851631)_(123851730_?)del
|
|
|
NC_000006.11:g.(?_123851631)_(123868537_?)del
|
|
|
NC_000006.11:g.(?_123851641)_(123851720_?)del
|
|
|
NC_000006.12:g.(?_123218591)_(123224141_?)del
|
|
|
NC_000006.12:g.(?_123260612)_(123260638_?)del
|
|
|
NC_000006.12:g.(?_123337609)_(123439013_?)dup
|
|
|
NC_000006.12:g.(?_123438043)_(123465003_?)del
|
|
|
NC_000006.12:g.(?_123497183)_(123512372_?)dup
|
|
|
NC_000006.12:g.(?_123547330)_(123548622_?)del
|
|
|
NC_000006.12:g.123503896TCTGT[1]
|
|
|
NM_006073.4(TRDN):c.*1456CA[3]
|
rs764560250
|
|
NM_006073.4(TRDN):c.1002T>C (p.Asp334=)
|
rs2114593337
|
|
NM_006073.4(TRDN):c.1006A>G (p.Lys336Glu)
|
|
|
NM_006073.4(TRDN):c.1017T>C (p.Ser339=)
|
|
|
NM_006073.4(TRDN):c.1034T>C (p.Ile345Thr)
|
rs1459890032
|
|
NM_006073.4(TRDN):c.1042G>C (p.Glu348Gln)
|
|
|
NM_006073.4(TRDN):c.1048A>G (p.Lys350Glu)
|
|
|
NM_006073.4(TRDN):c.1050del (p.Glu351fs)
|
rs753514580
|
|
NM_006073.4(TRDN):c.1051+10_1051+11insTGTT
|
|
|
NM_006073.4(TRDN):c.1051+13_1051+16del
|
rs779871731
|
|
NM_006073.4(TRDN):c.1051+14T>G
|
rs2114593071
|
|
NM_006073.4(TRDN):c.1051+18T>C
|
|
|
NM_006073.4(TRDN):c.1051+1G>A
|
rs535908547
|
|
NM_006073.4(TRDN):c.1051+1G>T
|
rs535908547
|
|
NM_006073.4(TRDN):c.1051+20T>C
|
rs1436980557
|
|
NM_006073.4(TRDN):c.1051+3A>T
|
rs2114593121
|
|
NM_006073.4(TRDN):c.1051+6G>T
|
|
|
NM_006073.4(TRDN):c.1051+7C>T
|
|
|
NM_006073.4(TRDN):c.1051+8A>T
|
|
|
NM_006073.4(TRDN):c.1051+9C>T
|
|
|
NM_006073.4(TRDN):c.1052-10dup
|
|
|
NM_006073.4(TRDN):c.1052-15T>C
|
|
|
NM_006073.4(TRDN):c.1052-16T>A
|
rs2114461669
|
|
NM_006073.4(TRDN):c.1052-18T>A
|
|
|
NM_006073.4(TRDN):c.1052-18T>C
|
|
|
NM_006073.4(TRDN):c.1052-19_1052-18del
|
rs2114461686
|
|
NM_006073.4(TRDN):c.1052-1G>C
|
|
|
NM_006073.4(TRDN):c.1052-5C>G
|
|
|
NM_006073.4(TRDN):c.1052-9C>A
|
rs765883002
|
|
NM_006073.4(TRDN):c.1052-9C>T
|
rs765883002
|
|
NM_006073.4(TRDN):c.1055C>A (p.Pro352Gln)
|
rs754708708
|
|
NM_006073.4(TRDN):c.1055C>T (p.Pro352Leu)
|
rs754708708
|
|
NM_006073.4(TRDN):c.1056G>A (p.Pro352=)
|
|
|
NM_006073.4(TRDN):c.1056G>T (p.Pro352=)
|
rs558713666
|
|
NM_006073.4(TRDN):c.1058G>A (p.Gly353Glu)
|
rs1230466120
|
|
NM_006073.4(TRDN):c.1084A>G (p.Thr362Ala)
|
|
|
NM_006073.4(TRDN):c.1087G>A (p.Val363Ile)
|
|
|
NM_006073.4(TRDN):c.1098_1099inv (p.Ala367Ser)
|
|
|
NM_006073.4(TRDN):c.1099G>T (p.Ala367Ser)
|
|
|
NM_006073.4(TRDN):c.109A>T (p.Thr37Ser)
|
rs1554258810
|
|
NM_006073.4(TRDN):c.1105+112G>A
|
rs73771941
|
|
NM_006073.4(TRDN):c.1105+13del
|
|
|
NM_006073.4(TRDN):c.1105+1del
|
rs1772598763
|
|
NM_006073.4(TRDN):c.1105G>T (p.Ala369Ser)
|
rs369198088
|
|
NM_006073.4(TRDN):c.1106-19G>A
|
rs754623877
|
|
NM_006073.4(TRDN):c.1106-19G>T
|
rs754623877
|
|
NM_006073.4(TRDN):c.1106-20C>T
|
|
|
NM_006073.4(TRDN):c.1106-5T>C
|
|
|
NM_006073.4(TRDN):c.1131G>A (p.Lys377=)
|
rs1370845470
|
|
NM_006073.4(TRDN):c.1132G>A (p.Glu378Lys)
|
rs1330602239
|
|
NM_006073.4(TRDN):c.1133A>G (p.Glu378Gly)
|
rs2114443570
|
|
NM_006073.4(TRDN):c.1135+17dup
|
|
|
NM_006073.4(TRDN):c.1135+1G>A
|
|
|
NM_006073.4(TRDN):c.1136-2A>G
|
|
|
NM_006073.4(TRDN):c.1136-2_1136-1delinsTA
|
|
|
NM_006073.4(TRDN):c.1141A>G (p.Lys381Glu)
|
|
|
NM_006073.4(TRDN):c.1144A>G (p.Lys382Glu)
|
rs1781747004
|
|
NM_006073.4(TRDN):c.1150A>G (p.Lys384Glu)
|
rs1159691201
|
|
NM_006073.4(TRDN):c.1157C>A (p.Pro386His)
|
|
|
NM_006073.4(TRDN):c.1165+130AG[15]
|
rs55997261
|
|
NM_006073.4(TRDN):c.1165+130AG[17]
|
rs55997261
|
|
NM_006073.4(TRDN):c.1165+130AG[18]
|
rs55997261
|
|
NM_006073.4(TRDN):c.1165+130AG[19]
|
rs55997261
|
|
NM_006073.4(TRDN):c.1165+130AG[21]
|
rs55997261
|
|
NM_006073.4(TRDN):c.1166-1G>A
|
rs1298986609
|
|
NM_006073.4(TRDN):c.1166-2A>C
|
|
|
NM_006073.4(TRDN):c.116A>T (p.Asp39Val)
|
|
|
NM_006073.4(TRDN):c.1175C>T (p.Pro392Leu)
|
rs1364039811
|
|
NM_006073.4(TRDN):c.1186+12C>T
|
|
|
NM_006073.4(TRDN):c.1186+13A>G
|
|
|
NM_006073.4(TRDN):c.1187-13T>C
|
|
|
NM_006073.4(TRDN):c.1187-15A>G
|
|
|
NM_006073.4(TRDN):c.1187-19C>G
|
|
|
NM_006073.4(TRDN):c.1187-2A>G
|
rs578024729
|
|
NM_006073.4(TRDN):c.1188A>C (p.Lys396Asn)
|
rs6901953
|
|
NM_006073.4(TRDN):c.1197G>T (p.Lys399Asn)
|
|
|
NM_006073.4(TRDN):c.119T>C (p.Ile40Thr)
|
|
|
NM_006073.4(TRDN):c.1201G>A (p.Glu401Lys)
|
|
|
NM_006073.4(TRDN):c.1208A>C (p.His403Pro)
|
|
|
NM_006073.4(TRDN):c.1209T>C (p.His403=)
|
|
|
NM_006073.4(TRDN):c.120A>G (p.Ile40Met)
|
|
|
NM_006073.4(TRDN):c.1218A>T (p.Pro406=)
|
|
|
NM_006073.4(TRDN):c.1219+7_1219+8del
|
rs2114402886
|
|
NM_006073.4(TRDN):c.1220-12T>C
|
|
|
NM_006073.4(TRDN):c.1220-17T>C
|
|
|
NM_006073.4(TRDN):c.1220-19del
|
|
|
NM_006073.4(TRDN):c.1220-19dup
|
rs750105897
|
|
NM_006073.4(TRDN):c.1220-20_1220-19del
|
|
|
NM_006073.4(TRDN):c.1223A>C (p.Lys408Thr)
|
rs2114402336
|
|
NM_006073.4(TRDN):c.1229C>A (p.Pro410Gln)
|
|
|
NM_006073.4(TRDN):c.1233G>A (p.Lys411=)
|
|
|
NM_006073.4(TRDN):c.1233_1234dup (p.Lys412fs)
|
rs778198100
|
|
NM_006073.4(TRDN):c.123G>A (p.Val41=)
|
rs546801443
|
|
NM_006073.4(TRDN):c.1246+10A>G
|
rs377411184
|
|
NM_006073.4(TRDN):c.1246+15T>C
|
|
|
NM_006073.4(TRDN):c.1246+317C>T
|
rs9401666
|
|
NM_006073.4(TRDN):c.1247-19T>G
|
|
|
NM_006073.4(TRDN):c.1247-20T>C
|
|
|
NM_006073.4(TRDN):c.1247-8A>G
|
|
|
NM_006073.4(TRDN):c.1248T>C (p.Val416=)
|
|
|
NM_006073.4(TRDN):c.1257C>G (p.Asp419Glu)
|
rs17737379
|
|
NM_006073.4(TRDN):c.1259A>G (p.Lys420Arg)
|
|
|
NM_006073.4(TRDN):c.126G>T (p.Thr42=)
|
rs774324909
|
|
NM_006073.4(TRDN):c.1273+16T>G
|
|
|
NM_006073.4(TRDN):c.1273+1G>A
|
rs2114394892
|
|
NM_006073.4(TRDN):c.1273+5G>A
|
|
|
NM_006073.4(TRDN):c.1273+7T>G
|
rs1324451489
|
|
NM_006073.4(TRDN):c.1273+8G>T
|
rs1781473593
|
|
NM_006073.4(TRDN):c.1274-8A>G
|
|
|
NM_006073.4(TRDN):c.1276A>G (p.Thr426Ala)
|
rs1040336692
|
|
NM_006073.4(TRDN):c.1278T>C (p.Thr426=)
|
|
|
NM_006073.4(TRDN):c.1279G>C (p.Glu427Gln)
|
|
|
NM_006073.4(TRDN):c.1282C>G (p.Arg428Gly)
|
rs202219343
|
|
NM_006073.4(TRDN):c.1292_1293del (p.Glu431fs)
|
rs1582923790
|
|
NM_006073.4(TRDN):c.1296G>T (p.Glu432Asp)
|
|
|
NM_006073.4(TRDN):c.1298T>C (p.Ile433Thr)
|
|
|
NM_006073.4(TRDN):c.1299T>C (p.Ile433=)
|
rs1443094358
|
|
NM_006073.4(TRDN):c.1300_1308del (p.Gly434_Val436del)
|
rs765757457
|
|
NM_006073.4(TRDN):c.1301G>C (p.Gly434Ala)
|
rs2114357967
|
|
NM_006073.4(TRDN):c.1304C>A (p.Ala435Glu)
|
rs370712881
|
|
NM_006073.4(TRDN):c.1304C>T (p.Ala435Val)
|
rs370712881
|
|
NM_006073.4(TRDN):c.1313T>A (p.Ile438Asn)
|
rs2873479
|
|
NM_006073.4(TRDN):c.1313T>G (p.Ile438Ser)
|
rs2873479
|
|
NM_006073.4(TRDN):c.1313_1314delinsGC (p.Ile438Ser)
|
rs1562280050
|
|
NM_006073.4(TRDN):c.1321+10G>T
|
|
|
NM_006073.4(TRDN):c.1321+11C>A
|
|
|
NM_006073.4(TRDN):c.1321+11C>G
|
rs920771213
|
|
NM_006073.4(TRDN):c.1321+17G>A
|
|
|
NM_006073.4(TRDN):c.1321+17G>T
|
|
|
NM_006073.4(TRDN):c.1321+1G>T
|
|
|
NM_006073.4(TRDN):c.1321+1del
|
rs754982716
|
|
NM_006073.4(TRDN):c.1321+9A>G
|
|
|
NM_006073.4(TRDN):c.1321G>A (p.Ala441Thr)
|
|
|
NM_006073.4(TRDN):c.1322-1G>A
|
|
|
NM_006073.4(TRDN):c.1322-21_1322-20del
|
rs753927173
|
|
NM_006073.4(TRDN):c.1322-9_1322-6dup
|
|
|
NM_006073.4(TRDN):c.1327C>T (p.Pro443Ser)
|
|
|
NM_006073.4(TRDN):c.1328C>T (p.Pro443Leu)
|
rs2114299923
|
|
NM_006073.4(TRDN):c.1329T>C (p.Pro443=)
|
rs2114299916
|
|
NM_006073.4(TRDN):c.1332A>C (p.Gly444=)
|
|
|
NM_006073.4(TRDN):c.1332A>G (p.Gly444=)
|
|
|
NM_006073.4(TRDN):c.1334A>G (p.Lys445Arg)
|
|
|
NM_006073.4(TRDN):c.1340A>G (p.Glu447Gly)
|
rs1488176228
|
|
NM_006073.4(TRDN):c.1344G>C (p.Glu448Asp)
|
|
|
NM_006073.4(TRDN):c.1362G>A (p.Val454=)
|
|
|
NM_006073.4(TRDN):c.1365G>A (p.Glu455=)
|
rs1452206168
|
|
NM_006073.4(TRDN):c.1369+107_1369+109del
|
rs146127438
|
|
NM_006073.4(TRDN):c.1369+11A>G
|
|
|
NM_006073.4(TRDN):c.1369+15A>G
|
|
|
NM_006073.4(TRDN):c.1369+2del
|
|
|
NM_006073.4(TRDN):c.1369+3dup
|
rs537388823
|
|
NM_006073.4(TRDN):c.1370-11_1370-10delinsAC
|
rs1060502113
|
|
NM_006073.4(TRDN):c.1370-15T>A
|
|
|
NM_006073.4(TRDN):c.1370-19C>T
|
|
|
NM_006073.4(TRDN):c.1370-20_1370-8del
|
|
|
NM_006073.4(TRDN):c.1370-2A>G
|
|
|
NM_006073.4(TRDN):c.1370A>G (p.Glu457Gly)
|
rs1275202498
|
|
NM_006073.4(TRDN):c.1373T>C (p.Ile458Thr)
|
rs1216864060
|
|
NM_006073.4(TRDN):c.1374T>C (p.Ile458=)
|
|
|
NM_006073.4(TRDN):c.1375A>T (p.Arg459Ter)
|
rs1562267979
|
|
NM_006073.4(TRDN):c.138C>T (p.Ser46=)
|
|
|
NM_006073.4(TRDN):c.1395G>A (p.Lys465=)
|
|
|
NM_006073.4(TRDN):c.1405A>G (p.Ile469Val)
|
|
|
NM_006073.4(TRDN):c.1410G>A (p.Leu470=)
|
rs768291815
|
|
NM_006073.4(TRDN):c.1410G>T (p.Leu470=)
|
rs768291815
|
|
NM_006073.4(TRDN):c.1416T>C (p.Asp472=)
|
rs1464407707
|
|
NM_006073.4(TRDN):c.1416T>G (p.Asp472Glu)
|
rs1464407707
|
|
NM_006073.4(TRDN):c.1420+17A>G
|
|
|
NM_006073.4(TRDN):c.1420+17A>T
|
|
|
NM_006073.4(TRDN):c.1420+18A>C
|
|
|
NM_006073.4(TRDN):c.1420+18A>G
|
|
|
NM_006073.4(TRDN):c.1420+8_1420+9del
|
rs1254777827
|
|
NM_006073.4(TRDN):c.1421-14A>G
|
|
|
NM_006073.4(TRDN):c.1421-16C>T
|
|
|
NM_006073.4(TRDN):c.1421-19G>C
|
|
|
NM_006073.4(TRDN):c.1426A>G (p.Ile476Val)
|
|
|
NM_006073.4(TRDN):c.1427T>C (p.Ile476Thr)
|
rs1582882357
|
|
NM_006073.4(TRDN):c.1431A>G (p.Lys477=)
|
|
|
NM_006073.4(TRDN):c.143C>A (p.Ala48Glu)
|
|
|
NM_006073.4(TRDN):c.1443G>C (p.Glu481Asp)
|
rs2114727152
|
|
NM_006073.4(TRDN):c.1454C>T (p.Ala485Val)
|
rs1001289198
|
|
NM_006073.4(TRDN):c.1457C>T (p.Ser486Phe)
|
|
|
NM_006073.4(TRDN):c.1458C>G (p.Ser486=)
|
rs1365899783
|
|
NM_006073.4(TRDN):c.145G>C (p.Ala49Pro)
|
rs1583264660
|
|
NM_006073.4(TRDN):c.1471+10T>A
|
rs1408593994
|
|
NM_006073.4(TRDN):c.1471+10T>C
|
|
|
NM_006073.4(TRDN):c.1471+14A>G
|
|
|
NM_006073.4(TRDN):c.1471+15T>C
|
|
|
NM_006073.4(TRDN):c.1471+1G>A
|
|
|
NM_006073.4(TRDN):c.1471+8_1471+10del
|
|
|
NM_006073.4(TRDN):c.1471G>C (p.Glu491Gln)
|
|
|
NM_006073.4(TRDN):c.1472-4C>T
|
|
|
NM_006073.4(TRDN):c.1472-5C>T
|
rs2114699560
|
|
NM_006073.4(TRDN):c.1474C>T (p.Pro492Ser)
|
|
|
NM_006073.4(TRDN):c.147C>A (p.Ala49=)
|
rs1554258804
|
|
NM_006073.4(TRDN):c.1488del (p.Asp497fs)
|
|
|
NM_006073.4(TRDN):c.1492G>T (p.Glu498Ter)
|
rs1779027425
|
|
NM_006073.4(TRDN):c.1499T>C (p.Met500Thr)
|
rs1233338907
|
|
NM_006073.4(TRDN):c.1503C>T (p.Ser501=)
|
|
|
NM_006073.4(TRDN):c.1510+14G>A
|
|
|
NM_006073.4(TRDN):c.1510+1G>C
|
|
|
NM_006073.4(TRDN):c.1510+5G>A
|
rs1779025821
|
|
NM_006073.4(TRDN):c.1511-11C>T
|
|
|
NM_006073.4(TRDN):c.1511-13del
|
rs768721605
|
|
NM_006073.4(TRDN):c.1511-13dup
|
|
|
NM_006073.4(TRDN):c.1511-14T>C
|
rs1252673540
|
|
NM_006073.4(TRDN):c.1511-20A>G
|
|
|
NM_006073.4(TRDN):c.1511-20A>T
|
rs773044428
|
|
NM_006073.4(TRDN):c.1511-9T>C
|
|
|
NM_006073.4(TRDN):c.1512C>T (p.Gly504=)
|
|
|
NM_006073.4(TRDN):c.1526C>G (p.Pro509Arg)
|
rs1060502115
|
|
NM_006073.4(TRDN):c.1534C>T (p.Pro512Ser)
|
|
|
NM_006073.4(TRDN):c.1537+100del
|
rs143535631
|
|
NM_006073.4(TRDN):c.1537+16G>A
|
|
|
NM_006073.4(TRDN):c.1537+17C>A
|
|
|
NM_006073.4(TRDN):c.1537+18T>A
|
|
|
NM_006073.4(TRDN):c.1537+18_1537+19insTAAA
|
|
|
NM_006073.4(TRDN):c.1537C>T (p.Gln513Ter)
|
rs757355311
|
|
NM_006073.4(TRDN):c.1538-12C>G
|
|
|
NM_006073.4(TRDN):c.1538-17T>C
|
|
|
NM_006073.4(TRDN):c.1538-19T>C
|
rs142237914
|
|
NM_006073.4(TRDN):c.1538-7T>G
|
rs1777452285
|
|
NM_006073.4(TRDN):c.153T>C (p.Leu51=)
|
|
|
NM_006073.4(TRDN):c.1542A>G (p.Leu514=)
|
|
|
NM_006073.4(TRDN):c.1544A>G (p.Gln515Arg)
|
|
|
NM_006073.4(TRDN):c.1545A>C (p.Gln515His)
|
rs1232728917
|
|
NM_006073.4(TRDN):c.1549A>G (p.Lys517Glu)
|
rs2114626106
|
|
NM_006073.4(TRDN):c.1554G>A (p.Lys518=)
|
|
|
NM_006073.4(TRDN):c.1558G>T (p.Glu520Ter)
|
|
|
NM_006073.4(TRDN):c.155T>A (p.Leu52Gln)
|
rs1554258798
|
|
NM_006073.4(TRDN):c.1560G>A (p.Glu520=)
|
|
|
NM_006073.4(TRDN):c.1566A>G (p.Pro522=)
|
rs2114626088
|
|
NM_006073.4(TRDN):c.1567+10T>A
|
rs2114626071
|
|
NM_006073.4(TRDN):c.1567+123dup
|
rs140706039
|
|
NM_006073.4(TRDN):c.1567+16T>G
|
|
|
NM_006073.4(TRDN):c.1567+19_1567+20del
|
|
|
NM_006073.4(TRDN):c.1568-14T>C
|
|
|
NM_006073.4(TRDN):c.1568-15T>C
|
|
|
NM_006073.4(TRDN):c.1568-16C>T
|
|
|
NM_006073.4(TRDN):c.1568-17C>A
|
|
|
NM_006073.4(TRDN):c.1568-18G>A
|
|
|
NM_006073.4(TRDN):c.1568-20del
|
|
|
NM_006073.4(TRDN):c.1568-5C>T
|
|
|
NM_006073.4(TRDN):c.156G>C (p.Leu52=)
|
|
|
NM_006073.4(TRDN):c.156G>T (p.Leu52=)
|
|
|
NM_006073.4(TRDN):c.1576A>G (p.Ile526Val)
|
rs375091695
|
|
NM_006073.4(TRDN):c.1577T>G (p.Ile526Ser)
|
rs771612991
|
|
NM_006073.4(TRDN):c.1579A>G (p.Lys527Glu)
|
rs1192853066
|
|
NM_006073.4(TRDN):c.157G>A (p.Val53Ile)
|
|
|
NM_006073.4(TRDN):c.157G>C (p.Val53Leu)
|
|
|
NM_006073.4(TRDN):c.1580A>G (p.Lys527Arg)
|
|
|
NM_006073.4(TRDN):c.1583A>G (p.Lys528Arg)
|
|
|
NM_006073.4(TRDN):c.1584A>G (p.Lys528=)
|
|
|
NM_006073.4(TRDN):c.1584dup (p.Glu529fs)
|
|
|
NM_006073.4(TRDN):c.1594C>G (p.Pro532Ala)
|
|
|
NM_006073.4(TRDN):c.1597+10G>A
|
rs150165710
|
|
NM_006073.4(TRDN):c.1597+11C>T
|
|
|
NM_006073.4(TRDN):c.1597+15A>G
|
|
|
NM_006073.4(TRDN):c.1597+3A>G
|
|
|
NM_006073.4(TRDN):c.1598-12T>C
|
|
|
NM_006073.4(TRDN):c.1598-15ATTT[2]
|
|
|
NM_006073.4(TRDN):c.1598-16T>A
|
|
|
NM_006073.4(TRDN):c.1598-16T>C
|
|
|
NM_006073.4(TRDN):c.1598-18_1598-14del
|
|
|
NM_006073.4(TRDN):c.1598-20A>G
|
|
|
NM_006073.4(TRDN):c.1598-20_1598-19del
|
rs1463323606
|
|
NM_006073.4(TRDN):c.1598-23_1598-19del
|
rs1282710403
|
|
NM_006073.4(TRDN):c.1598-4_1598-3insTTTAT
|
|
|
NM_006073.4(TRDN):c.1598-6dup
|
rs147062785
|
|
NM_006073.4(TRDN):c.159C>A (p.Val53=)
|
|
|
NM_006073.4(TRDN):c.1600A>G (p.Ile534Val)
|
rs1048725851
|
|
NM_006073.4(TRDN):c.1600_1602delinsT (p.Ile534fs)
|
rs1777268262
|
|
NM_006073.4(TRDN):c.1608A>G (p.Glu536=)
|
rs2114616513
|
|
NM_006073.4(TRDN):c.161T>C (p.Ile54Thr)
|
rs1562396418
|
|
NM_006073.4(TRDN):c.1623C>T (p.His541=)
|
|
|
NM_006073.4(TRDN):c.1624+1G>A
|
|
|
NM_006073.4(TRDN):c.1624+1G>C
|
rs748011906
|
|
NM_006073.4(TRDN):c.1624+20T>C
|
|
|
NM_006073.4(TRDN):c.1624+40C>A
|
rs115489054
|
|
NM_006073.4(TRDN):c.1624+6T>A
|
|
|
NM_006073.4(TRDN):c.1624+9T>A
|
|
|
NM_006073.4(TRDN):c.1625-11A>C
|
|
|
NM_006073.4(TRDN):c.1625-3C>A
|
|
|
NM_006073.4(TRDN):c.1626A>G (p.Lys542=)
|
|
|
NM_006073.4(TRDN):c.1628A>G (p.Gln543Arg)
|
|
|
NM_006073.4(TRDN):c.1629A>G (p.Gln543=)
|
rs2114615817
|
|
NM_006073.4(TRDN):c.162_178del (p.Ile54fs)
|
rs2114537397
|
|
NM_006073.4(TRDN):c.1630G>A (p.Asp544Asn)
|
rs1777254669
|
|
NM_006073.4(TRDN):c.1632C>T (p.Asp544=)
|
|
|
NM_006073.4(TRDN):c.1648A>G (p.Lys550Glu)
|
rs1036032456
|
|
NM_006073.4(TRDN):c.164C>T (p.Ala55Val)
|
rs1333255264
|
|
NM_006073.4(TRDN):c.1650G>A (p.Lys550=)
|
|
|
NM_006073.4(TRDN):c.1661A>C (p.His554Pro)
|
rs1777253805
|
|
NM_006073.4(TRDN):c.1661A>G (p.His554Arg)
|
|
|
NM_006073.4(TRDN):c.1667A>G (p.Lys556Arg)
|
rs1554219406
|
|
NM_006073.4(TRDN):c.1672+13T>C
|
|
|
NM_006073.4(TRDN):c.1672+3A>G
|
|
|
NM_006073.4(TRDN):c.1672+6T>C
|
|
|
NM_006073.4(TRDN):c.1673-10C>T
|
|
|
NM_006073.4(TRDN):c.167T>C (p.Leu56Pro)
|
rs1060502116
|
|
NM_006073.4(TRDN):c.1684C>A (p.Leu562Ile)
|
rs2114612744
|
|
NM_006073.4(TRDN):c.168G>A (p.Leu56=)
|
rs1290905998
|
|
NM_006073.4(TRDN):c.1690C>A (p.Gln564Lys)
|
|
|
NM_006073.4(TRDN):c.1690C>T (p.Gln564Ter)
|
|
|
NM_006073.4(TRDN):c.1691A>C (p.Gln564Pro)
|
rs768555461
|
|
NM_006073.4(TRDN):c.1692G>A (p.Gln564=)
|
|
|
NM_006073.4(TRDN):c.1692G>C (p.Gln564His)
|
rs747107207
|
|
NM_006073.4(TRDN):c.1693G>A (p.Val565Ile)
|
rs565178454
|
|
NM_006073.4(TRDN):c.1696A>G (p.Lys566Glu)
|
|
|
NM_006073.4(TRDN):c.1700C>A (p.Ala567Asp)
|
rs545470302
|
|
NM_006073.4(TRDN):c.1701T>G (p.Ala567=)
|
rs1208419306
|
|
NM_006073.4(TRDN):c.1706C>T (p.Thr569Ile)
|
|
|
NM_006073.4(TRDN):c.1717dup (p.Thr573fs)
|
|
|
NM_006073.4(TRDN):c.1720+10G>T
|
rs1582805166
|
|
NM_006073.4(TRDN):c.1720+76CA[13]
|
rs35914221
|
|
NM_006073.4(TRDN):c.1720+76CA[14]
|
rs35914221
|
|
NM_006073.4(TRDN):c.1720+76CA[15]
|
rs35914221
|
|
NM_006073.4(TRDN):c.1720+76CA[16]
|
rs35914221
|
|
NM_006073.4(TRDN):c.1720+9G>A
|
|
|
NM_006073.4(TRDN):c.1720G>A (p.Ala574Thr)
|
rs866787639
|
|
NM_006073.4(TRDN):c.1721-10T>C
|
rs2114610669
|
|
NM_006073.4(TRDN):c.1721-11A>G
|
rs1356432525
|
|
NM_006073.4(TRDN):c.1721-16C>T
|
|
|
NM_006073.4(TRDN):c.1721-202G>T
|
rs79957114
|
|
NM_006073.4(TRDN):c.1721-4A>T
|
rs60743141
|
|
NM_006073.4(TRDN):c.1721-6C>T
|
|
|
NM_006073.4(TRDN):c.1728C>A (p.Pro576=)
|
|
|
NM_006073.4(TRDN):c.1729A>G (p.Lys577Glu)
|
rs1554219149
|
|
NM_006073.4(TRDN):c.1732C>T (p.Pro578Ser)
|
|
|
NM_006073.4(TRDN):c.1738+10G>A
|
|
|
NM_006073.4(TRDN):c.1738+12A>G
|
|
|
NM_006073.4(TRDN):c.1738+20A>G
|
|
|
NM_006073.4(TRDN):c.1739-15G>T
|
|
|
NM_006073.4(TRDN):c.1739-16T>G
|
|
|
NM_006073.4(TRDN):c.1739-17T>C
|
|
|
NM_006073.4(TRDN):c.1739-6C>T
|
rs1057524282
|
|
NM_006073.4(TRDN):c.173T>A (p.Ile58Asn)
|
|
|
NM_006073.4(TRDN):c.1753C>T (p.Arg585Ter)
|
rs754229275
|
|
NM_006073.4(TRDN):c.1762G>A (p.Glu588Lys)
|
|
|
NM_006073.4(TRDN):c.1762_1763del (p.Glu588fs)
|
|
|
NM_006073.4(TRDN):c.1768C>T (p.Pro590Ser)
|
rs2114606785
|
|
NM_006073.4(TRDN):c.176C>G (p.Thr59Arg)
|
rs397515459
|
|
NM_006073.4(TRDN):c.1770A>C (p.Pro590=)
|
rs2114606782
|
|
NM_006073.4(TRDN):c.1771T>C (p.Ser591Pro)
|
|
|
NM_006073.4(TRDN):c.1774A>G (p.Ile592Val)
|
|
|
NM_006073.4(TRDN):c.1783+8A>G
|
|
|
NM_006073.4(TRDN):c.1784-10dup
|
rs1776904446
|
|
NM_006073.4(TRDN):c.1784-16del
|
rs1181050406
|
|
NM_006073.4(TRDN):c.1784-17del
|
rs750605412
|
|
NM_006073.4(TRDN):c.1784-17dup
|
|
|
NM_006073.4(TRDN):c.1784-18T>C
|
|
|
NM_006073.4(TRDN):c.1784-7T>C
|
|
|
NM_006073.4(TRDN):c.1784-7T>G
|
|
|
NM_006073.4(TRDN):c.1784-8C>G
|
rs759126653
|
|
NM_006073.4(TRDN):c.1784-9C>A
|
|
|
NM_006073.4(TRDN):c.1794A>G (p.Lys598=)
|
|
|
NM_006073.4(TRDN):c.1794del (p.Lys598fs)
|
rs1412913007
|
|
NM_006073.4(TRDN):c.1798A>G (p.Thr600Ala)
|
|
|
NM_006073.4(TRDN):c.1804+10C>T
|
|
|
NM_006073.4(TRDN):c.1804+2T>C
|
rs2114598453
|
|
NM_006073.4(TRDN):c.1804+6T>C
|
|
|
NM_006073.4(TRDN):c.1804+8T>C
|
|
|
NM_006073.4(TRDN):c.1804A>T (p.Lys602Ter)
|
rs2114598456
|
|
NM_006073.4(TRDN):c.1805-19_1805-18insC
|
|
|
NM_006073.4(TRDN):c.1805-21_1805-19dup
|
rs11373802
|
|
NM_006073.4(TRDN):c.1805-21_1805-20dup
|
rs11373802
|
|
NM_006073.4(TRDN):c.1805-21dup
|
rs11373802
|
|
NM_006073.4(TRDN):c.1805-4A>T
|
|
|
NM_006073.4(TRDN):c.1805-6_1805-4del
|
rs2114588768
|
|
NM_006073.4(TRDN):c.1805-6_1805-4delinsT
|
rs1776731846
|
|
NM_006073.4(TRDN):c.1805-6_1805-4delinsTTT
|
|
|
NM_006073.4(TRDN):c.1805-6del
|
|
|
NM_006073.4(TRDN):c.1805-6dup
|
|
|
NM_006073.4(TRDN):c.1805-7T>C
|
|
|
NM_006073.4(TRDN):c.1806del (p.Gly603fs)
|
rs1381728472
|
|
NM_006073.4(TRDN):c.1821del (p.Thr608fs)
|
|
|
NM_006073.4(TRDN):c.1831+17T>A
|
rs953116640
|
|
NM_006073.4(TRDN):c.1831+9T>C
|
|
|
NM_006073.4(TRDN):c.1831+9T>G
|
|
|
NM_006073.4(TRDN):c.1832-11C>A
|
|
|
NM_006073.4(TRDN):c.1832-126A>C
|
rs11966668
|
|
NM_006073.4(TRDN):c.1832-4C>T
|
|
|
NM_006073.4(TRDN):c.1832-5C>G
|
|
|
NM_006073.4(TRDN):c.1832-5C>T
|
|
|
NM_006073.4(TRDN):c.1845T>C (p.Thr615=)
|
|
|
NM_006073.4(TRDN):c.1857A>G (p.Glu619=)
|
|
|
NM_006073.4(TRDN):c.185C>T (p.Ala62Val)
|
|
|
NM_006073.4(TRDN):c.1861G>T (p.Glu621Ter)
|
|
|
NM_006073.4(TRDN):c.1862A>G (p.Glu621Gly)
|
rs1211286909
|
|
NM_006073.4(TRDN):c.1867A>C (p.Lys623Gln)
|
rs781602848
|
|
NM_006073.4(TRDN):c.1870+19G>C
|
|
|
NM_006073.4(TRDN):c.1870+19G>T
|
|
|
NM_006073.4(TRDN):c.1871-137C>T
|
rs147951703
|
|
NM_006073.4(TRDN):c.1871-20T>C
|
|
|
NM_006073.4(TRDN):c.1871-2A>G
|
rs1483354092
|
|
NM_006073.4(TRDN):c.1871-6A>C
|
|
|
NM_006073.4(TRDN):c.1871-9T>A
|
rs1489256531
|
|
NM_006073.4(TRDN):c.1874A>C (p.Lys625Thr)
|
rs1776539318
|
|
NM_006073.4(TRDN):c.1874A>G (p.Lys625Arg)
|
rs1776539318
|
|
NM_006073.4(TRDN):c.1875dup (p.Ala626fs)
|
rs780443277
|
|
NM_006073.4(TRDN):c.1881C>G (p.Asp627Glu)
|
rs1776538992
|
|
NM_006073.4(TRDN):c.1881C>T (p.Asp627=)
|
rs1776538992
|
|
NM_006073.4(TRDN):c.1882A>G (p.Met628Val)
|
|
|
NM_006073.4(TRDN):c.1887G>A (p.Lys629=)
|
|
|
NM_006073.4(TRDN):c.1888C>T (p.His630Tyr)
|
|
|
NM_006073.4(TRDN):c.1894dup (p.Arg632fs)
|
|
|
NM_006073.4(TRDN):c.1897G>A (p.Glu633Lys)
|
rs1776538236
|
|
NM_006073.4(TRDN):c.1900_1903del (p.Glu634fs)
|
rs750469686
|
|
NM_006073.4(TRDN):c.1906+10del
|
rs1371429325
|
|
NM_006073.4(TRDN):c.1906+17A>G
|
|
|
NM_006073.4(TRDN):c.1906+6T>C
|
rs1562232511
|
|
NM_006073.4(TRDN):c.1906+6T>G
|
rs1562232511
|
|
NM_006073.4(TRDN):c.1906+8T>C
|
|
|
NM_006073.4(TRDN):c.1907-16T>C
|
|
|
NM_006073.4(TRDN):c.1907-29_1907-15del
|
|
|
NM_006073.4(TRDN):c.1907-2A>G
|
|
|
NM_006073.4(TRDN):c.1907-3C>T
|
|
|
NM_006073.4(TRDN):c.1907-3_1907-2del
|
|
|
NM_006073.4(TRDN):c.1907-6T>G
|
|
|
NM_006073.4(TRDN):c.1907-7T>C
|
|
|
NM_006073.4(TRDN):c.1913C>G (p.Thr638Arg)
|
rs1168548735
|
|
NM_006073.4(TRDN):c.1916_1918del (p.Arg639del)
|
|
|
NM_006073.4(TRDN):c.1921_1923del (p.Glu641del)
|
|
|
NM_006073.4(TRDN):c.1922A>G (p.Glu641Gly)
|
rs1554217845
|
|
NM_006073.4(TRDN):c.1923_1924del (p.Leu643fs)
|
rs781420323
|
|
NM_006073.4(TRDN):c.1938C>A (p.His646Gln)
|
rs1582782548
|
|
NM_006073.4(TRDN):c.1938C>T (p.His646=)
|
|
|
NM_006073.4(TRDN):c.1951+13T>G
|
rs2114576557
|
|
NM_006073.4(TRDN):c.1951+9G>A
|
|
|
NM_006073.4(TRDN):c.1952-15del
|
rs2114570805
|
|
NM_006073.4(TRDN):c.1952-1G>A
|
rs2114570771
|
|
NM_006073.4(TRDN):c.1952-58del
|
rs201528433
|
|
NM_006073.4(TRDN):c.1952-8C>G
|
|
|
NM_006073.4(TRDN):c.1963G>T (p.Ala655Ser)
|
|
|
NM_006073.4(TRDN):c.1964dup (p.Arg656fs)
|
rs751900486
|
|
NM_006073.4(TRDN):c.1966A>G (p.Arg656Gly)
|
rs1776405797
|
|
NM_006073.4(TRDN):c.196G>A (p.Val66Ile)
|
rs372169818
|
|
NM_006073.4(TRDN):c.1971A>G (p.Val657=)
|
|
|
NM_006073.4(TRDN):c.1975+14G>C
|
|
|
NM_006073.4(TRDN):c.1975+1G>C
|
|
|
NM_006073.4(TRDN):c.1975+4del
|
rs763953757
|
|
NM_006073.4(TRDN):c.1975+7A>G
|
|
|
NM_006073.4(TRDN):c.1975+8C>A
|
rs754046696
|
|
NM_006073.4(TRDN):c.1975+9G>A
|
rs111276785
|
|
NM_006073.4(TRDN):c.1976-11C>T
|
|
|
NM_006073.4(TRDN):c.1976-96G>A
|
rs9490705
|
|
NM_006073.4(TRDN):c.1984G>T (p.Glu662Ter)
|
|
|
NM_006073.4(TRDN):c.1986A>T (p.Glu662Asp)
|
|
|
NM_006073.4(TRDN):c.1989T>C (p.Asp663=)
|
|
|
NM_006073.4(TRDN):c.1996G>A (p.Ala666Thr)
|
rs748450167
|
|
NM_006073.4(TRDN):c.1996G>C (p.Ala666Pro)
|
rs748450167
|
|
NM_006073.4(TRDN):c.1997C>A (p.Ala666Asp)
|
rs878854816
|
|
NM_006073.4(TRDN):c.19_22+8del
|
|
|
NM_006073.4(TRDN):c.2002A>C (p.Lys668Gln)
|
|
|
NM_006073.4(TRDN):c.200T>C (p.Met67Thr)
|
|
|
NM_006073.4(TRDN):c.2011A>C (p.Lys671Gln)
|
rs2114505384
|
|
NM_006073.4(TRDN):c.2014+15T>C
|
rs2114505350
|
|
NM_006073.4(TRDN):c.2014+17T>C
|
rs2114505346
|
|
NM_006073.4(TRDN):c.2014+20A>G
|
rs2114505323
|
|
NM_006073.4(TRDN):c.2014+6T>G
|
rs2114505362
|
|
NM_006073.4(TRDN):c.2014+78del
|
rs11368178
|
|
NM_006073.4(TRDN):c.2014+9G>T
|
|
|
NM_006073.4(TRDN):c.2014G>A (p.Glu672Lys)
|
rs2114505372
|
|
NM_006073.4(TRDN):c.2015-5A>T
|
rs749849851
|
|
NM_006073.4(TRDN):c.2015-6C>A
|
rs1244486423
|
|
NM_006073.4(TRDN):c.2015-7C>T
|
|
|
NM_006073.4(TRDN):c.2030T>G (p.Val677Gly)
|
rs1775146927
|
|
NM_006073.4(TRDN):c.2037C>T (p.Pro679=)
|
|
|
NM_006073.4(TRDN):c.2050+18T>C
|
|
|
NM_006073.4(TRDN):c.2050+1G>A
|
rs1295530677
|
|
NM_006073.4(TRDN):c.2050+2T>C
|
rs758127975
|
|
NM_006073.4(TRDN):c.2050+2_2050+16delinsATTATT
|
|
|
NM_006073.4(TRDN):c.2051-12T>C
|
|
|
NM_006073.4(TRDN):c.2051-13C>A
|
rs763319003
|
|
NM_006073.4(TRDN):c.2051-13C>T
|
|
|
NM_006073.4(TRDN):c.2051-19_2051-18inv
|
|
|
NM_006073.4(TRDN):c.2051-5C>T
|
|
|
NM_006073.4(TRDN):c.2072G>C (p.Cys691Ser)
|
rs2114492427
|
|
NM_006073.4(TRDN):c.207T>C (p.Asp69=)
|
|
|
NM_006073.4(TRDN):c.2090A>G (p.Tyr697Cys)
|
|
|
NM_006073.4(TRDN):c.2092A>G (p.Asn698Asp)
|
rs777779916
|
|
NM_006073.4(TRDN):c.2094T>C (p.Asn698=)
|
|
|
NM_006073.4(TRDN):c.2096del (p.Gly699fs)
|
rs772899515
|
|
NM_006073.4(TRDN):c.209T>C (p.Leu70Ser)
|
|
|
NM_006073.4(TRDN):c.2108A>G (p.Gln703Arg)
|
rs1390830578
|
|
NM_006073.4(TRDN):c.2109G>T (p.Gln703His)
|
|
|
NM_006073.4(TRDN):c.211G>A (p.Val71Met)
|
|
|
NM_006073.4(TRDN):c.2121T>A (p.Thr707=)
|
|
|
NM_006073.4(TRDN):c.2123C>T (p.Pro708Leu)
|
|
|
NM_006073.4(TRDN):c.2126C>A (p.Ala709Glu)
|
rs876658032
|
|
NM_006073.4(TRDN):c.2130C>A (p.Asp710Glu)
|
|
|
NM_006073.4(TRDN):c.2134C>T (p.Pro712Ser)
|
|
|
NM_006073.4(TRDN):c.213G>A (p.Val71=)
|
|
|
NM_006073.4(TRDN):c.2146T>C (p.Ser716Pro)
|
|
|
NM_006073.4(TRDN):c.2149_2150del (p.Gly717fs)
|
|
|
NM_006073.4(TRDN):c.214G>A (p.Asp72Asn)
|
rs919863113
|
|
NM_006073.4(TRDN):c.214G>T (p.Asp72Tyr)
|
|
|
NM_006073.4(TRDN):c.2150G>A (p.Gly717Asp)
|
|
|
NM_006073.4(TRDN):c.2154A>C (p.Gln718His)
|
|
|
NM_006073.4(TRDN):c.2160T>C (p.Asn720=)
|
|
|
NM_006073.4(TRDN):c.2165C>T (p.Pro722Leu)
|
rs2114492200
|
|
NM_006073.4(TRDN):c.2167G>A (p.Gly723Arg)
|
rs2114492194
|
|
NM_006073.4(TRDN):c.2169A>G (p.Gly723=)
|
|
|
NM_006073.4(TRDN):c.2180A>G (p.Gln727Arg)
|
|
|
NM_006073.4(TRDN):c.2183G>T (p.Gly728Val)
|
|
|
NM_006073.4(TRDN):c.2185C>G (p.Gln729Glu)
|
|
|
NM_006073.4(TRDN):c.2189A>G (p.Ter730=)
|
|
|
NM_006073.4(TRDN):c.219C>T (p.Tyr73=)
|
|
|
NM_006073.4(TRDN):c.22+19G>C
|
|
|
NM_006073.4(TRDN):c.22+1G>T
|
rs1290195833
|
|
NM_006073.4(TRDN):c.226T>C (p.Phe76Leu)
|
rs1782541809
|
|
NM_006073.4(TRDN):c.231A>G (p.Ser77=)
|
rs2114537218
|
|
NM_006073.4(TRDN):c.232+11T>C
|
|
|
NM_006073.4(TRDN):c.232+2T>A
|
rs1554258777
|
|
NM_006073.4(TRDN):c.232+2T>C
|
|
|
NM_006073.4(TRDN):c.232+6T>C
|
rs747825904
|
|
NM_006073.4(TRDN):c.233-11A>G
|
|
|
NM_006073.4(TRDN):c.233-13del
|
rs66509682
|
|
NM_006073.4(TRDN):c.233-149C>A
|
rs7749215
|
|
NM_006073.4(TRDN):c.233-14_233-13del
|
rs66509682
|
|
NM_006073.4(TRDN):c.233-15_233-13del
|
rs66509682
|
|
NM_006073.4(TRDN):c.237C>T (p.Ser79=)
|
rs2114437291
|
|
NM_006073.4(TRDN):c.245C>T (p.Ala82Val)
|
|
|
NM_006073.4(TRDN):c.24A>G (p.Gly8=)
|
|
|
NM_006073.4(TRDN):c.252T>G (p.Ile84Met)
|
|
|
NM_006073.4(TRDN):c.271C>T (p.Leu91=)
|
|
|
NM_006073.4(TRDN):c.274G>T (p.Val92Leu)
|
rs34808221
|
|
NM_006073.4(TRDN):c.277C>A (p.Arg93Ser)
|
|
|
NM_006073.4(TRDN):c.292G>A (p.Glu98Lys)
|
|
|
NM_006073.4(TRDN):c.292delinsAA (p.Glu98fs)
|
|
|
NM_006073.4(TRDN):c.296C>G (p.Thr99Ser)
|
|
|
NM_006073.4(TRDN):c.29C>A (p.Ala10Glu)
|
|
|
NM_006073.4(TRDN):c.2T>C (p.Met1Thr)
|
|
|
NM_006073.4(TRDN):c.305G>A (p.Trp102Ter)
|
|
|
NM_006073.4(TRDN):c.306G>T (p.Trp102Cys)
|
|
|
NM_006073.4(TRDN):c.307A>G (p.Ile103Val)
|
rs535845814
|
|
NM_006073.4(TRDN):c.312T>C (p.Tyr104=)
|
|
|
NM_006073.4(TRDN):c.326del (p.Leu109fs)
|
|
|
NM_006073.4(TRDN):c.334del (p.Asp112fs)
|
|
|
NM_006073.4(TRDN):c.337ATC[1] (p.Ile114del)
|
rs1781228259
|
|
NM_006073.4(TRDN):c.339C>A (p.Ile113=)
|
|
|
NM_006073.4(TRDN):c.344C>T (p.Ser115Leu)
|
|
|
NM_006073.4(TRDN):c.346T>A (p.Ser116Thr)
|
rs768047321
|
|
NM_006073.4(TRDN):c.346T>C (p.Ser116Pro)
|
rs768047321
|
|
NM_006073.4(TRDN):c.348T>C (p.Ser116=)
|
rs746361154
|
|
NM_006073.4(TRDN):c.355G>A (p.Glu119Lys)
|
|
|
NM_006073.4(TRDN):c.356A>G (p.Glu119Gly)
|
rs2114436566
|
|
NM_006073.4(TRDN):c.35C>G (p.Thr12Arg)
|
|
|
NM_006073.4(TRDN):c.362ATG[2] (p.Asp123del)
|
rs746889615
|
|
NM_006073.4(TRDN):c.366T>A (p.Asp122Glu)
|
|
|
NM_006073.4(TRDN):c.384T>C (p.Thr128=)
|
rs2114436256
|
|
NM_006073.4(TRDN):c.386A>T (p.Asp129Val)
|
|
|
NM_006073.4(TRDN):c.391+13T>C
|
|
|
NM_006073.4(TRDN):c.391+19T>A
|
|
|
NM_006073.4(TRDN):c.391+1G>A
|
rs2114436209
|
|
NM_006073.4(TRDN):c.391G>C (p.Gly131Arg)
|
rs1245170587
|
|
NM_006073.4(TRDN):c.392-153dup
|
rs59703987
|
|
NM_006073.4(TRDN):c.392-6G>C
|
rs1781166505
|
|
NM_006073.4(TRDN):c.392-7G>T
|
rs1781166753
|
|
NM_006073.4(TRDN):c.392G>C (p.Gly131Ala)
|
|
|
NM_006073.4(TRDN):c.402T>C (p.Asp134=)
|
rs1583222819
|
|
NM_006073.4(TRDN):c.410C>T (p.Pro137Leu)
|
rs1242484153
|
|
NM_006073.4(TRDN):c.411C>T (p.Pro137=)
|
|
|
NM_006073.4(TRDN):c.414G>A (p.Leu138=)
|
|
|
NM_006073.4(TRDN):c.416G>A (p.Arg139Lys)
|
rs1562379256
|
|
NM_006073.4(TRDN):c.417A>G (p.Arg139=)
|
rs1781163116
|
|
NM_006073.4(TRDN):c.41C>T (p.Thr14Ile)
|
rs2114538213
|
|
NM_006073.4(TRDN):c.423del (p.Glu142fs)
|
rs757805966
|
|
NM_006073.4(TRDN):c.424+13C>T
|
|
|
NM_006073.4(TRDN):c.424+13_424+14delinsTC
|
rs1554256111
|
|
NM_006073.4(TRDN):c.424+14A>G
|
|
|
NM_006073.4(TRDN):c.424+1G>T
|
|
|
NM_006073.4(TRDN):c.424+8G>A
|
rs906772880
|
|
NM_006073.4(TRDN):c.424G>T (p.Glu142Ter)
|
|
|
NM_006073.4(TRDN):c.425-11T>C
|
rs2114339291
|
|
NM_006073.4(TRDN):c.425-11T>G
|
|
|
NM_006073.4(TRDN):c.425-11dup
|
rs950851610
|
|
NM_006073.4(TRDN):c.425-12A>G
|
|
|
NM_006073.4(TRDN):c.425-14C>A
|
|
|
NM_006073.4(TRDN):c.425-4_425-3insLINE1
|
|
|
NM_006073.4(TRDN):c.425-7T>C
|
|
|
NM_006073.4(TRDN):c.427A>C (p.Ile143Leu)
|
|
|
NM_006073.4(TRDN):c.432C>G (p.His144Gln)
|
|
|
NM_006073.4(TRDN):c.432C>T (p.His144=)
|
|
|
NM_006073.4(TRDN):c.436G>T (p.Asp146Tyr)
|
rs1780197036
|
|
NM_006073.4(TRDN):c.438_442del (p.Asp146_Lys147insTer)
|
rs752256846
|
|
NM_006073.4(TRDN):c.439_440del (p.Lys147fs)
|
rs2114339116
|
|
NM_006073.4(TRDN):c.440A>G (p.Lys147Arg)
|
rs2114339102
|
|
NM_006073.4(TRDN):c.445G>A (p.Glu149Lys)
|
rs902398250
|
|
NM_006073.4(TRDN):c.44_49del (p.Thr15_Val16del)
|
rs1271763031
|
|
NM_006073.4(TRDN):c.451C>T (p.Gln151Ter)
|
|
|
NM_006073.4(TRDN):c.461C>T (p.Pro154Leu)
|
|
|
NM_006073.4(TRDN):c.464A>G (p.Glu155Gly)
|
|
|
NM_006073.4(TRDN):c.478A>T (p.Thr160Ser)
|
|
|
NM_006073.4(TRDN):c.480T>C (p.Thr160=)
|
rs1020844292
|
|
NM_006073.4(TRDN):c.483del (p.Val162fs)
|
|
|
NM_006073.4(TRDN):c.484+10T>C
|
|
|
NM_006073.4(TRDN):c.484+1189G>A
|
|
|
NM_006073.4(TRDN):c.484+1229T>C
|
|
|
NM_006073.4(TRDN):c.484+153_484+179del
|
rs6149788
|
|
NM_006073.4(TRDN):c.484+6C>T
|
rs115773202
|
|
NM_006073.4(TRDN):c.485-19T>C
|
|
|
NM_006073.4(TRDN):c.485-20A>G
|
|
|
NM_006073.4(TRDN):c.485-8C>T
|
rs767131579
|
|
NM_006073.4(TRDN):c.488C>T (p.Thr163Ile)
|
|
|
NM_006073.4(TRDN):c.497AAAAAG[1] (p.166EK[1])
|
rs148596612
|
|
NM_006073.4(TRDN):c.502G>T (p.Glu168Ter)
|
rs545032318
|
|
NM_006073.4(TRDN):c.502del (p.Glu168fs)
|
|
|
NM_006073.4(TRDN):c.507dup (p.Gly170fs)
|
|
|
NM_006073.4(TRDN):c.508G>T (p.Gly170Ter)
|
|
|
NM_006073.4(TRDN):c.50T>C (p.Ile17Thr)
|
rs1583264951
|
|
NM_006073.4(TRDN):c.515_520del (p.Glu172_Lys173del)
|
|
|
NM_006073.4(TRDN):c.520_550+494del
|
rs1562358749
|
|
NM_006073.4(TRDN):c.525A>G (p.Arg175=)
|
|
|
NM_006073.4(TRDN):c.526GAAAAA[1] (p.176EK[1])
|
rs1319934569
|
|
NM_006073.4(TRDN):c.52G>A (p.Asp18Asn)
|
|
|
NM_006073.4(TRDN):c.531del (p.Glu178fs)
|
rs1432170970
|
|
NM_006073.4(TRDN):c.532_533del (p.Glu178fs)
|
|
|
NM_006073.4(TRDN):c.537A>T (p.Lys179Asn)
|
|
|
NM_006073.4(TRDN):c.53_56del (p.Asp18fs)
|
rs768049331
|
|
NM_006073.4(TRDN):c.542A>C (p.Glu181Ala)
|
|
|
NM_006073.4(TRDN):c.542A>T (p.Glu181Val)
|
|
|
NM_006073.4(TRDN):c.545A>G (p.Lys182Arg)
|
|
|
NM_006073.4(TRDN):c.550+12C>T
|
rs2114871069
|
|
NM_006073.4(TRDN):c.550+1_550+2insA
|
|
|
NM_006073.4(TRDN):c.550G>A (p.Ala184Thr)
|
rs576028226
|
|
NM_006073.4(TRDN):c.551-19G>C
|
|
|
NM_006073.4(TRDN):c.551-20T>C
|
rs1554251627
|
|
NM_006073.4(TRDN):c.551-7G>A
|
|
|
NM_006073.4(TRDN):c.551-7G>C
|
|
|
NM_006073.4(TRDN):c.551C>A (p.Ala184Glu)
|
|
|
NM_006073.4(TRDN):c.553A>G (p.Thr185Ala)
|
rs1064796444
|
|
NM_006073.4(TRDN):c.568dup (p.Ile190fs)
|
rs1085307100
|
|
NM_006073.4(TRDN):c.569T>A (p.Ile190Asn)
|
rs1205195262
|
|
NM_006073.4(TRDN):c.573dup (p.Lys192fs)
|
rs1554251609
|
|
NM_006073.4(TRDN):c.579A>G (p.Lys193=)
|
|
|
NM_006073.4(TRDN):c.57_58insTTTT (p.Lys20delinsPheTer)
|
|
|
NM_006073.4(TRDN):c.585A>G (p.Lys195=)
|
|
|
NM_006073.4(TRDN):c.587C>A (p.Pro196Gln)
|
|
|
NM_006073.4(TRDN):c.587C>T (p.Pro196Leu)
|
rs1277590915
|
|
NM_006073.4(TRDN):c.591A>G (p.Glu197=)
|
|
|
NM_006073.4(TRDN):c.601_610+45delinsG
|
|
|
NM_006073.4(TRDN):c.604_610+47del
|
rs1554251571
|
|
NM_006073.4(TRDN):c.610+10C>A
|
rs1779222090
|
|
NM_006073.4(TRDN):c.610+11A>G
|
|
|
NM_006073.4(TRDN):c.611-1G>A
|
|
|
NM_006073.4(TRDN):c.611A>G (p.Glu204Gly)
|
|
|
NM_006073.4(TRDN):c.618del (p.Ala208fs)
|
rs1060502114
|
|
NM_006073.4(TRDN):c.62A>C (p.Asn21Thr)
|
|
|
NM_006073.4(TRDN):c.630T>C (p.Thr210=)
|
|
|
NM_006073.4(TRDN):c.651G>A (p.Lys217=)
|
rs781233223
|
|
NM_006073.4(TRDN):c.655A>G (p.Lys219Glu)
|
rs1562351485
|
|
NM_006073.4(TRDN):c.658A>T (p.Lys220Ter)
|
rs2114833320
|
|
NM_006073.4(TRDN):c.659A>G (p.Lys220Arg)
|
|
|
NM_006073.4(TRDN):c.65G>T (p.Gly22Val)
|
|
|
NM_006073.4(TRDN):c.670G>A (p.Gly224Ser)
|
|
|
NM_006073.4(TRDN):c.68C>G (p.Ser23Cys)
|
|
|
NM_006073.4(TRDN):c.690G>A (p.Val230=)
|
|
|
NM_006073.4(TRDN):c.691A>G (p.Lys231Glu)
|
|
|
NM_006073.4(TRDN):c.693G>A (p.Lys231=)
|
rs754258360
|
|
NM_006073.4(TRDN):c.705A>G (p.Ala235=)
|
rs1778803094
|
|
NM_006073.4(TRDN):c.70G>A (p.Val24Met)
|
|
|
NM_006073.4(TRDN):c.712A>G (p.Lys238Glu)
|
|
|
NM_006073.4(TRDN):c.713A>G (p.Lys238Arg)
|
|
|
NM_006073.4(TRDN):c.713AAG[1] (p.Glu239del)
|
|
|
NM_006073.4(TRDN):c.730C>A (p.Pro244Thr)
|
rs2114833034
|
|
NM_006073.4(TRDN):c.731del (p.Pro244fs)
|
rs1440670208
|
|
NM_006073.4(TRDN):c.742A>G (p.Lys248Glu)
|
rs2114833012
|
|
NM_006073.4(TRDN):c.744del (p.Glu249fs)
|
|
|
NM_006073.4(TRDN):c.749A>G (p.Lys250Arg)
|
|
|
NM_006073.4(TRDN):c.750G>T (p.Lys250Asn)
|
rs138912040
|
|
NM_006073.4(TRDN):c.766G>A (p.Ala256Thr)
|
|
|
NM_006073.4(TRDN):c.772G>C (p.Val258Leu)
|
|
|
NM_006073.4(TRDN):c.772G>T (p.Val258Leu)
|
|
|
NM_006073.4(TRDN):c.779A>G (p.Lys260Arg)
|
|
|
NM_006073.4(TRDN):c.77A>G (p.Lys26Arg)
|
|
|
NM_006073.4(TRDN):c.780G>A (p.Lys260=)
|
rs771614858
|
|
NM_006073.4(TRDN):c.782A>G (p.His261Arg)
|
|
|
NM_006073.4(TRDN):c.790A>G (p.Lys264Glu)
|
rs574484615
|
|
NM_006073.4(TRDN):c.793+29A>T
|
|
|
NM_006073.4(TRDN):c.793+7A>G
|
rs373240967
|
|
NM_006073.4(TRDN):c.793G>T (p.Asp265Tyr)
|
rs1021886509
|
|
NM_006073.4(TRDN):c.794-10A>G
|
|
|
NM_006073.4(TRDN):c.794-12C>T
|
|
|
NM_006073.4(TRDN):c.794-8T>A
|
|
|
NM_006073.4(TRDN):c.795T>A (p.Asp265Glu)
|
|
|
NM_006073.4(TRDN):c.798G>C (p.Gln266His)
|
rs1562347184
|
|
NM_006073.4(TRDN):c.801T>C (p.Tyr267=)
|
|
|
NM_006073.4(TRDN):c.802G>A (p.Ala268Thr)
|
rs1223374508
|
|
NM_006073.4(TRDN):c.803C>T (p.Ala268Val)
|
rs1465535140
|
|
NM_006073.4(TRDN):c.805T>G (p.Phe269Val)
|
|
|
NM_006073.4(TRDN):c.809G>A (p.Cys270Tyr)
|
rs1778487507
|
|
NM_006073.4(TRDN):c.80C>T (p.Ser27Phe)
|
rs770488451
|
|
NM_006073.4(TRDN):c.812G>C (p.Arg271Pro)
|
|
|
NM_006073.4(TRDN):c.81C>T (p.Ser27=)
|
rs2114538002
|
|
NM_006073.4(TRDN):c.829T>G (p.Phe277Val)
|
|
|
NM_006073.4(TRDN):c.832G>C (p.Val278Leu)
|
|
|
NM_006073.4(TRDN):c.833T>C (p.Val278Ala)
|
rs954714094
|
|
NM_006073.4(TRDN):c.836A>G (p.His279Arg)
|
rs1251196961
|
|
NM_006073.4(TRDN):c.839G>A (p.Gly280Glu)
|
rs903971281
|
|
NM_006073.4(TRDN):c.840G>T (p.Gly280=)
|
|
|
NM_006073.4(TRDN):c.842A>T (p.Asp281Val)
|
|
|
NM_006073.4(TRDN):c.853+10G>A
|
|
|
NM_006073.4(TRDN):c.854-10C>A
|
|
|
NM_006073.4(TRDN):c.854-134del
|
rs5879683
|
|
NM_006073.4(TRDN):c.854-13C>G
|
|
|
NM_006073.4(TRDN):c.854-17A>G
|
rs1776700892
|
|
NM_006073.4(TRDN):c.854-2A>T
|
|
|
NM_006073.4(TRDN):c.854-325C>T
|
rs1343640
|
|
NM_006073.4(TRDN):c.854-4G>A
|
|
|
NM_006073.4(TRDN):c.854G>A (p.Gly285Glu)
|
|
|
NM_006073.4(TRDN):c.856_890del (p.Gln286fs)
|
|
|
NM_006073.4(TRDN):c.861C>T (p.Ser287=)
|
rs769586528
|
|
NM_006073.4(TRDN):c.865G>A (p.Ala289Thr)
|
|
|
NM_006073.4(TRDN):c.872C>T (p.Pro291Leu)
|
rs530972011
|
|
NM_006073.4(TRDN):c.874C>T (p.Pro292Ser)
|
|
|
NM_006073.4(TRDN):c.876T>A (p.Pro292=)
|
|
|
NM_006073.4(TRDN):c.877C>T (p.Pro293Ser)
|
|
|
NM_006073.4(TRDN):c.87A>T (p.Gly29=)
|
|
|
NM_006073.4(TRDN):c.881T>A (p.Leu294Ter)
|
|
|
NM_006073.4(TRDN):c.899C>G (p.Ser300Cys)
|
rs2114709180
|
|
NM_006073.4(TRDN):c.901A>C (p.Arg301=)
|
|
|
NM_006073.4(TRDN):c.90A>T (p.Lys30Asn)
|
rs2114537932
|
|
NM_006073.4(TRDN):c.912G>A (p.Pro304=)
|
|
|
NM_006073.4(TRDN):c.91del (p.Val31fs)
|
rs2114537918
|
|
NM_006073.4(TRDN):c.920C>T (p.Pro307Leu)
|
|
|
NM_006073.4(TRDN):c.923C>T (p.Ala308Val)
|
rs1776696081
|
|
NM_006073.4(TRDN):c.925C>T (p.Leu309Phe)
|
|
|
NM_006073.4(TRDN):c.92T>A (p.Val31Glu)
|
|
|
NM_006073.4(TRDN):c.931+18del
|
rs201431159
|
|
NM_006073.4(TRDN):c.931+18dup
|
rs201431159
|
|
NM_006073.4(TRDN):c.931+9T>C
|
rs2114709001
|
|
NM_006073.4(TRDN):c.932-1G>C
|
|
|
NM_006073.4(TRDN):c.932-6C>A
|
rs886061033
|
|
NM_006073.4(TRDN):c.945A>G (p.Glu315=)
|
|
|
NM_006073.4(TRDN):c.946AAG[2] (p.Lys318del)
|
rs1774734616
|
|
NM_006073.4(TRDN):c.947A>T (p.Lys316Met)
|
|
|
NM_006073.4(TRDN):c.948G>A (p.Lys316=)
|
rs1060504473
|
|
NM_006073.4(TRDN):c.94C>A (p.Leu32Met)
|
rs755548582
|
|
NM_006073.4(TRDN):c.960G>A (p.Glu320=)
|
|
|
NM_006073.4(TRDN):c.963G>A (p.Lys321=)
|
|
|
NM_006073.4(TRDN):c.979A>G (p.Thr327Ala)
|
|
|
NM_006073.4(TRDN):c.984A>T (p.Lys328Asn)
|
rs1774733806
|
|
NM_006073.4(TRDN):c.991+19A>G
|
|
|
NM_006073.4(TRDN):c.992-15T>C
|
|
|
NM_006073.4(TRDN):c.992-203_992-202insA
|
rs146284588
|
|
NM_006073.4(TRDN):c.992-203_992-202insAAA
|
rs146284588
|
|
NM_006073.4(TRDN):c.992-203_992-202insAAAA
|
|
|
NM_006073.4(TRDN):c.992-206_992-204dup
|
rs34201164
|
|
NM_006073.4(TRDN):c.992-215dup
|
rs34201164
|
|
NM_006073.4(TRDN):c.9G>C (p.Glu3Asp)
|
rs1185669572
|
|