NM_173630.4(RTTN):c.1930-77G>A
|
rs12604751
|
0.99196
|
NM_173630.4(RTTN):c.2309+231C>T
|
rs9807719
|
0.99171
|
NM_173630.4(RTTN):c.1008-294A>G
|
rs283247
|
0.95463
|
NM_173630.4(RTTN):c.2885+170A>G
|
rs4891814
|
0.95457
|
NM_173630.4(RTTN):c.842-30A>G
|
rs283250
|
0.94865
|
NM_173630.4(RTTN):c.4940+83T>A
|
rs1435086
|
0.91324
|
NM_173630.4(RTTN):c.6596-273A>G
|
rs7241642
|
0.90930
|
NM_173630.4(RTTN):c.2055+100A>G
|
rs12606964
|
0.84173
|
NM_173630.4(RTTN):c.6596-184G>A
|
rs10871658
|
0.83996
|
NM_173630.4(RTTN):c.4303-228G>A
|
rs1461425
|
0.81986
|
NM_173630.4(RTTN):c.2309+948C>T
|
rs12458200
|
0.81972
|
NM_173630.4(RTTN):c.2482-238T>C
|
rs11659217
|
0.81443
|
NM_173630.4(RTTN):c.2482-24T>G
|
rs11665653
|
0.80619
|
NM_173630.4(RTTN):c.2309+1220A>G
|
rs11151571
|
0.80249
|
NM_173630.4(RTTN):c.1930-97A>G
|
rs12607032
|
0.80246
|
NM_173630.4(RTTN):c.6595+295A>G
|
rs12968403
|
0.79752
|
NM_173630.4(RTTN):c.5282T>C (p.Phe1761Ser)
|
rs4891392
|
0.79319
|
NM_173630.4(RTTN):c.4565-79C>T
|
rs1369293
|
0.79318
|
NM_173630.4(RTTN):c.5032-231T>G
|
rs8099717
|
0.78129
|
NM_173630.4(RTTN):c.6154-97G>A
|
rs7244421
|
0.76521
|
NM_173630.4(RTTN):c.5031+176T>C
|
rs12968602
|
0.75200
|
NM_173630.4(RTTN):c.6526-248A>G
|
rs11151554
|
0.74320
|
NM_173630.4(RTTN):c.376T>G (p.Ser126Ala)
|
rs3911730
|
0.73528
|
NM_173630.4(RTTN):c.4654-76A>T
|
rs11151561
|
0.73170
|
NM_173630.4(RTTN):c.4653+25C>T
|
rs1369292
|
0.73057
|
NM_173630.4(RTTN):c.2309+1021G>A
|
rs11151572
|
0.70971
|
NM_173630.4(RTTN):c.2481+75C>T
|
rs11662011
|
0.70949
|
NM_173630.4(RTTN):c.4565-260C>G
|
rs12965140
|
0.70896
|
NM_173630.4(RTTN):c.1189+296A>T
|
rs12964801
|
0.70810
|
NM_173630.4(RTTN):c.734A>G (p.Lys245Arg)
|
rs17082206
|
0.40022
|
NM_173630.4(RTTN):c.6144A>G (p.Val2048=)
|
rs2304378
|
0.16509
|
NM_173630.4(RTTN):c.4941-230G>A
|
rs17082031
|
0.14352
|
NM_173630.4(RTTN):c.2788+318T>C
|
rs73466795
|
0.10714
|
NM_173630.4(RTTN):c.397+94C>T
|
rs283254
|
0.10581
|
NM_173630.4(RTTN):c.398-168A>G
|
rs283252
|
0.10320
|
NM_173630.4(RTTN):c.487+117T>C
|
rs12326995
|
0.09803
|
NM_173630.4(RTTN):c.1007+205G>A
|
rs4891822
|
0.08908
|
NM_173630.4(RTTN):c.1929+325G>A
|
rs8092060
|
0.08208
|
NM_173630.4(RTTN):c.31+86G>A
|
rs283230
|
0.07437
|
NM_173630.3(RTTN):c.-107C>T
|
rs73966851
|
0.07383
|
NM_173630.4(RTTN):c.3528+193A>G
|
rs17807127
|
0.06991
|
NM_173630.4(RTTN):c.*93G>A
|
rs7998
|
0.06736
|
NM_173630.4(RTTN):c.4748-70A>G
|
rs73964489
|
0.06122
|
NM_173630.4(RTTN):c.-19T>G
|
rs77804861
|
0.04363
|
NM_173630.4(RTTN):c.5185+86T>A
|
rs17082022
|
0.03917
|
NM_173630.4(RTTN):c.4748-210T>A
|
rs73964490
|
0.03839
|
NM_173630.4(RTTN):c.2309+250C>T
|
rs58031757
|
0.03722
|
NM_173630.4(RTTN):c.6153+206T>C
|
rs73970816
|
0.03376
|
NM_173630.4(RTTN):c.4748-53T>A
|
rs17082041
|
0.03370
|
NM_173630.4(RTTN):c.4941-71T>G
|
rs73964486
|
0.03361
|
NM_173630.4(RTTN):c.3144-274G>A
|
rs73966803
|
0.03069
|
NM_173630.4(RTTN):c.5950+37A>C
|
rs73970818
|
0.03008
|
NM_173630.4(RTTN):c.4941-140A>G
|
rs73964487
|
0.02902
|
NM_173630.4(RTTN):c.6154-119A>G
|
rs73970813
|
0.02901
|
NM_173630.4(RTTN):c.4940+7G>A
|
rs17082039
|
0.02895
|
NM_173630.4(RTTN):c.2309+190C>T
|
rs9807720
|
0.02716
|
NM_173630.4(RTTN):c.579-339A>G
|
rs17082209
|
0.02455
|
NM_173630.4(RTTN):c.3144-177A>G
|
rs28370305
|
0.02309
|
NM_173630.4(RTTN):c.2482-25G>T
|
rs376523644
|
0.02237
|
NM_173630.4(RTTN):c.3903+220T>C
|
rs768138
|
0.02186
|
NM_173630.4(RTTN):c.3684-109A>G
|
rs76378532
|
0.02140
|
NM_173630.4(RTTN):c.4748-5A>G
|
rs28495061
|
0.02113
|
NM_173630.4(RTTN):c.2954+233A>G
|
rs76263777
|
0.02106
|
NM_173630.4(RTTN):c.4564+209T>G
|
rs75137056
|
0.02106
|
NM_173630.4(RTTN):c.220-12T>C
|
rs11873759
|
0.02102
|
NM_173630.4(RTTN):c.220-261A>G
|
rs11877021
|
0.02098
|
NM_173630.4(RTTN):c.5746-277C>A
|
rs116454025
|
0.02095
|
NM_173630.4(RTTN):c.3384-226C>G
|
rs74999746
|
0.02084
|
NM_173630.4(RTTN):c.4302+112C>T
|
rs17232744
|
0.02056
|
NM_173630.4(RTTN):c.2856A>G (p.Leu952=)
|
rs35139926
|
0.02051
|
NM_173630.4(RTTN):c.5950+138G>A
|
rs17081993
|
0.02051
|
NM_173630.4(RTTN):c.578+15G>A
|
rs17808334
|
0.02041
|
NM_173630.4(RTTN):c.3384-303G>C
|
rs17233212
|
0.02039
|
NM_173630.4(RTTN):c.398-257C>T
|
rs3851131
|
0.01999
|
NM_173630.4(RTTN):c.2173-289C>T
|
rs74679198
|
0.01951
|
NM_173630.4(RTTN):c.5542-88C>G
|
rs73970822
|
0.01820
|
NM_173630.4(RTTN):c.6422-329T>C
|
rs60115813
|
0.01815
|
NM_173630.4(RTTN):c.5824-139G>A
|
rs73970819
|
0.01813
|
NM_173630.4(RTTN):c.4653+205C>T
|
rs78532798
|
0.01796
|
NM_173630.4(RTTN):c.2886-299A>G
|
rs73966805
|
0.01788
|
NM_173630.4(RTTN):c.578+115T>A
|
rs59021833
|
0.01780
|
NM_173630.4(RTTN):c.4375-89T>C
|
rs115381997
|
0.01767
|
NM_173630.4(RTTN):c.2886-184C>T
|
rs147260916
|
0.01739
|
NM_173630.4(RTTN):c.1930-273A>G
|
rs113475449
|
0.01716
|
NM_173630.4(RTTN):c.2055+7C>T
|
rs117843366
|
0.01697
|
NM_173630.4(RTTN):c.2310-226A>G
|
rs76494284
|
0.01586
|
NM_173630.4(RTTN):c.6154-215A>T
|
rs17081972
|
0.01567
|
NM_173630.4(RTTN):c.4850T>C (p.Met1617Thr)
|
rs35409908
|
0.01493
|
NM_173630.4(RTTN):c.2886-9A>G
|
rs75225724
|
0.01465
|
NM_173630.4(RTTN):c.220-34A>G
|
rs113341500
|
0.01299
|
NM_173630.4(RTTN):c.487+220G>A
|
rs118090440
|
0.01241
|
NM_173630.4(RTTN):c.4654-175A>T
|
rs74989897
|
0.01190
|
NM_173630.4(RTTN):c.1665C>A (p.Asn555Lys)
|
rs34353615
|
0.01182
|
NM_173630.4(RTTN):c.1842A>G (p.Glu614=)
|
rs140245773
|
0.01182
|
NM_173630.4(RTTN):c.5060C>G (p.Ser1687Cys)
|
rs34717557
|
0.01180
|
NM_173630.4(RTTN):c.1008-4G>T
|
rs151203272
|
0.01176
|
NM_173630.4(RTTN):c.398-221A>C
|
rs149769355
|
0.01175
|
NM_173630.4(RTTN):c.6525+325C>G
|
rs79010619
|
0.01112
|
NM_173630.4(RTTN):c.5951-57T>C
|
rs150783273
|
0.01098
|
NM_173630.4(RTTN):c.2815A>G (p.Ser939Gly)
|
rs114399480
|
0.01040
|
NM_173630.4(RTTN):c.694-19C>T
|
rs73966831
|
0.00999
|
NM_173630.4(RTTN):c.1803-320G>A
|
rs116391038
|
0.00990
|
NM_173630.4(RTTN):c.5647+100del
|
rs148044924
|
0.00975
|
NM_173630.4(RTTN):c.6595+221T>C
|
rs150138947
|
0.00946
|
NM_173630.4(RTTN):c.2481+166dup
|
rs202065572
|
0.00917
|
NM_173630.4(RTTN):c.1690-305C>T
|
rs141377528
|
0.00892
|
NM_173630.4(RTTN):c.2310-206A>C
|
rs141390999
|
0.00887
|
NM_173630.4(RTTN):c.6526-221A>G
|
rs138797734
|
0.00847
|
NM_173630.4(RTTN):c.841+11T>C
|
rs114480216
|
0.00778
|
NM_173630.4(RTTN):c.1008-137C>T
|
rs115425050
|
0.00776
|
NM_173630.4(RTTN):c.1929+3G>A
|
rs75464253
|
0.00767
|
NM_173630.4(RTTN):c.32-3C>T
|
rs75577820
|
0.00750
|
NM_173630.4(RTTN):c.5745+13G>T
|
rs144392822
|
0.00745
|
NM_173630.4(RTTN):c.3143+211G>A
|
rs79547006
|
0.00737
|
NM_173630.4(RTTN):c.5648-124A>G
|
rs116226189
|
0.00737
|
NM_173630.4(RTTN):c.1690-228G>C
|
rs114076061
|
0.00731
|
NM_173630.4(RTTN):c.6525+151C>A
|
rs73970810
|
0.00726
|
NM_173630.4(RTTN):c.4374+116G>A
|
rs13381186
|
0.00718
|
NM_173630.4(RTTN):c.2582-291A>G
|
rs74983640
|
0.00713
|
NM_173630.4(RTTN):c.2309+240T>C
|
rs150941646
|
0.00684
|
NM_173630.4(RTTN):c.6445G>A (p.Ala2149Thr)
|
rs34989098
|
0.00624
|
NM_173630.4(RTTN):c.6421+158C>G
|
rs186533402
|
0.00613
|
NM_173630.4(RTTN):c.4565-148T>A
|
rs541151394
|
0.00606
|
NM_173630.4(RTTN):c.1803-241A>C
|
rs73966815
|
0.00597
|
NM_173630.4(RTTN):c.6015C>T (p.Ala2005=)
|
rs117183725
|
0.00590
|
NM_173630.4(RTTN):c.841+160G>A
|
rs114476702
|
0.00588
|
NM_173630.4(RTTN):c.1921A>G (p.Ile641Val)
|
rs117502718
|
0.00584
|
NM_173630.4(RTTN):c.4303-159C>T
|
rs74906380
|
0.00583
|
NM_173630.4(RTTN):c.1929+87T>G
|
rs79820873
|
0.00564
|
NM_173630.4(RTTN):c.2466A>G (p.Arg822=)
|
rs115470168
|
0.00564
|
NM_173630.4(RTTN):c.3903+241G>A
|
rs115590724
|
0.00563
|
NM_173630.4(RTTN):c.488-185A>G
|
rs146893606
|
0.00558
|
NM_173630.4(RTTN):c.6595+138A>G
|
rs115029214
|
0.00556
|
NM_173630.4(RTTN):c.3581A>G (p.Glu1194Gly)
|
rs34533087
|
0.00548
|
NM_173630.4(RTTN):c.579-139A>G
|
rs116599744
|
0.00547
|
NM_173630.4(RTTN):c.694-9T>G
|
rs150733272
|
0.00547
|
NM_173630.4(RTTN):c.3762G>A (p.Ala1254=)
|
rs114459491
|
0.00545
|
NM_173630.4(RTTN):c.4654-51T>G
|
rs114066125
|
0.00543
|
NM_173630.4(RTTN):c.183G>A (p.Lys61=)
|
rs34922729
|
0.00541
|
NM_173630.4(RTTN):c.2582-277G>A
|
rs76112951
|
0.00541
|
NM_173630.4(RTTN):c.5647+16C>T
|
rs114315958
|
0.00541
|
NM_173630.4(RTTN):c.3904-49T>A
|
rs116195581
|
0.00537
|
NM_173630.4(RTTN):c.1306-205T>A
|
rs187658749
|
0.00536
|
NM_173630.4(RTTN):c.5648-87C>G
|
rs115926328
|
0.00534
|
NM_173630.4(RTTN):c.1008-130G>A
|
rs80320654
|
0.00533
|
NM_173630.4(RTTN):c.1189+56G>A
|
rs77842988
|
0.00533
|
NM_173630.4(RTTN):c.693+90A>T
|
rs115744565
|
0.00533
|
NM_173630.4(RTTN):c.693+143A>G
|
rs74573462
|
0.00532
|
NM_173630.4(RTTN):c.6038G>T (p.Cys2013Phe)
|
rs145976466
|
0.00528
|
NM_173630.4(RTTN):c.6636T>C (p.Tyr2212=)
|
rs35558429
|
0.00497
|
NM_173630.4(RTTN):c.227C>T (p.Pro76Leu)
|
rs114765225
|
0.00496
|
NM_173630.4(RTTN):c.5225A>G (p.His1742Arg)
|
rs285227
|
0.00496
|
NM_173630.4(RTTN):c.4992G>C (p.Leu1664=)
|
rs34041767
|
0.00492
|
NM_173630.4(RTTN):c.5323+303A>G
|
rs150562794
|
0.00480
|
NM_173630.4(RTTN):c.3903+262G>A
|
rs116279002
|
0.00475
|
NM_173630.4(RTTN):c.5991T>C (p.Pro1997=)
|
rs34749812
|
0.00449
|
NM_173630.4(RTTN):c.2309+12G>A
|
rs144279235
|
0.00433
|
NM_173630.4(RTTN):c.2788+317A>G
|
rs139342442
|
0.00412
|
NM_173630.4(RTTN):c.5185+27T>C
|
rs115817045
|
0.00401
|
NM_173630.4(RTTN):c.2055+133T>C
|
rs78448243
|
0.00389
|
NM_173630.4(RTTN):c.4889G>C (p.Arg1630Thr)
|
rs182595458
|
0.00389
|
NM_173630.4(RTTN):c.4032+223C>G
|
rs142434780
|
0.00354
|
NM_173630.4(RTTN):c.635A>C (p.Asp212Ala)
|
rs12956068
|
0.00334
|
NM_173630.4(RTTN):c.397+134G>T
|
rs78355766
|
0.00321
|
NM_173630.4(RTTN):c.1458G>A (p.Thr486=)
|
rs115686638
|
0.00314
|
NM_173630.4(RTTN):c.5323+46C>T
|
rs78515288
|
0.00314
|
NM_173630.4(RTTN):c.694-273C>T
|
rs115043430
|
0.00314
|
NM_173630.4(RTTN):c.3143+44T>C
|
rs114887246
|
0.00309
|
NM_173630.4(RTTN):c.5823+118C>T
|
rs117339348
|
0.00298
|
NM_173630.4(RTTN):c.5143A>G (p.Asn1715Asp)
|
rs35374168
|
0.00275
|
NM_173630.4(RTTN):c.2954+106A>G
|
rs78075144
|
0.00258
|
NM_173630.4(RTTN):c.2990C>T (p.Ala997Val)
|
rs143471549
|
0.00255
|
NM_173630.4(RTTN):c.4303-8A>G
|
rs199597732
|
0.00230
|
NM_173630.4(RTTN):c.3338G>A (p.Cys1113Tyr)
|
rs117774280
|
0.00217
|
NM_173630.4(RTTN):c.4193C>T (p.Thr1398Met)
|
rs62089120
|
0.00216
|
NM_173630.4(RTTN):c.5212C>T (p.His1738Tyr)
|
rs35068710
|
0.00210
|
NM_173630.4(RTTN):c.5280G>A (p.Pro1760=)
|
rs186543005
|
0.00198
|
NM_173630.4(RTTN):c.1330G>A (p.Gly444Arg)
|
rs199780405
|
0.00192
|
NM_173630.4(RTTN):c.5883G>A (p.Leu1961=)
|
rs35313369
|
0.00185
|
NM_173630.4(RTTN):c.3048G>A (p.Pro1016=)
|
rs149233888
|
0.00176
|
NM_173630.4(RTTN):c.739C>T (p.Arg247Cys)
|
rs199691416
|
0.00172
|
NM_173630.4(RTTN):c.2804A>G (p.His935Arg)
|
rs145832674
|
0.00164
|
NM_173630.4(RTTN):c.4303-50C>T
|
rs547433762
|
0.00164
|
NM_173630.4(RTTN):c.3003C>T (p.Tyr1001=)
|
rs200031043
|
0.00156
|
NM_173630.4(RTTN):c.1563T>C (p.Ile521=)
|
rs200975487
|
0.00148
|
NM_173630.4(RTTN):c.4308A>G (p.Ala1436=)
|
rs200315704
|
0.00115
|
NM_173630.4(RTTN):c.885A>G (p.Ala295=)
|
rs148445363
|
0.00111
|
NM_173630.4(RTTN):c.805T>C (p.Phe269Leu)
|
rs141156594
|
0.00096
|
NM_173630.4(RTTN):c.841+26C>T
|
rs201108414
|
0.00086
|
NM_173630.4(RTTN):c.1929+18C>T
|
rs188436697
|
0.00085
|
NM_173630.4(RTTN):c.2536G>A (p.Val846Ile)
|
rs113536228
|
0.00082
|
NM_173630.4(RTTN):c.1221A>G (p.Glu407=)
|
rs112327299
|
0.00081
|
NM_173630.4(RTTN):c.4615G>A (p.Asp1539Asn)
|
rs201473797
|
0.00079
|
NM_173630.4(RTTN):c.1766C>T (p.Pro589Leu)
|
rs199910005
|
0.00072
|
NM_173630.4(RTTN):c.6189G>T (p.Leu2063Phe)
|
rs77798966
|
0.00067
|
NM_173630.4(RTTN):c.4748-7A>G
|
rs141673274
|
0.00063
|
NM_173630.4(RTTN):c.630G>C (p.Leu210Phe)
|
rs201538332
|
0.00063
|
NM_173630.4(RTTN):c.2568T>A (p.Ala856=)
|
rs370998068
|
0.00061
|
NM_173630.4(RTTN):c.282G>T (p.Arg94=)
|
rs199908033
|
0.00057
|
NM_173630.4(RTTN):c.1676A>C (p.Asp559Ala)
|
rs201443817
|
0.00049
|
NM_173630.4(RTTN):c.4032+6C>T
|
rs182157946
|
0.00048
|
NM_173630.4(RTTN):c.2255C>T (p.Pro752Leu)
|
rs35424122
|
0.00043
|
NM_173630.4(RTTN):c.1301A>C (p.Asp434Ala)
|
rs8083708
|
0.00041
|
NM_173630.4(RTTN):c.6596-7A>T
|
rs779249909
|
0.00041
|
NM_173630.4(RTTN):c.4360G>T (p.Asp1454Tyr)
|
rs199965041
|
0.00037
|
NM_173630.4(RTTN):c.5916G>C (p.Gln1972His)
|
rs201267273
|
0.00037
|
NM_173630.4(RTTN):c.833A>G (p.Asn278Ser)
|
rs77760128
|
0.00037
|
NM_173630.4(RTTN):c.4298G>A (p.Arg1433Gln)
|
rs75356692
|
0.00036
|
NM_173630.4(RTTN):c.4654-43C>T
|
rs189834726
|
0.00034
|
NM_173630.4(RTTN):c.3783G>A (p.Pro1261=)
|
rs371484273
|
0.00032
|
NM_173630.4(RTTN):c.-26C>T
|
rs374176554
|
0.00030
|
NM_173630.4(RTTN):c.1831C>T (p.Leu611=)
|
rs372717287
|
0.00029
|
NM_173630.4(RTTN):c.2118A>G (p.Ala706=)
|
rs199840279
|
0.00029
|
NM_173630.4(RTTN):c.2355T>C (p.Ser785=)
|
rs200600259
|
0.00029
|
NM_173630.4(RTTN):c.488-15C>T
|
rs182610959
|
0.00029
|
NM_173630.4(RTTN):c.31+18C>T
|
rs569832958
|
0.00025
|
NM_173630.4(RTTN):c.6080C>T (p.Thr2027Met)
|
rs199546509
|
0.00025
|
NM_173630.4(RTTN):c.330T>A (p.Asp110Glu)
|
rs372296200
|
0.00022
|
NM_173630.4(RTTN):c.1189+14G>A
|
rs201132700
|
0.00021
|
NM_173630.4(RTTN):c.1741A>G (p.Ser581Gly)
|
rs375800180
|
0.00021
|
NM_173630.4(RTTN):c.86T>C (p.Ile29Thr)
|
rs201689582
|
0.00021
|
NM_173630.4(RTTN):c.1007+13A>G
|
rs200302395
|
0.00020
|
NM_173630.4(RTTN):c.4502G>A (p.Arg1501Gln)
|
rs371160845
|
0.00019
|
NM_173630.4(RTTN):c.494A>C (p.Gln165Pro)
|
rs199536536
|
0.00019
|
NM_173630.4(RTTN):c.169T>C (p.Ser57Pro)
|
rs376558320
|
0.00018
|
NM_173630.4(RTTN):c.6003A>G (p.Thr2001=)
|
rs367823428
|
0.00018
|
NM_173630.4(RTTN):c.708G>T (p.Leu236=)
|
rs201505457
|
0.00017
|
NM_173630.4(RTTN):c.719C>T (p.Ala240Val)
|
rs201226318
|
0.00017
|
NM_173630.4(RTTN):c.2670+9A>G
|
rs200758402
|
0.00016
|
NM_173630.4(RTTN):c.3238G>A (p.Val1080Ile)
|
rs201548591
|
0.00016
|
NM_173630.4(RTTN):c.3831G>A (p.Pro1277=)
|
rs370572467
|
0.00016
|
NM_173630.4(RTTN):c.4032+9G>A
|
rs202193505
|
0.00016
|
NM_173630.4(RTTN):c.4878G>A (p.Thr1626=)
|
rs202066623
|
0.00016
|
NM_173630.4(RTTN):c.6596-8T>A
|
rs772525574
|
0.00016
|
NM_173630.4(RTTN):c.2912C>T (p.Ser971Phe)
|
rs201796504
|
0.00015
|
NM_173630.4(RTTN):c.4707A>T (p.Thr1569=)
|
rs143709749
|
0.00015
|
NM_173630.4(RTTN):c.762C>T (p.Ser254=)
|
rs376038753
|
0.00015
|
NM_173630.4(RTTN):c.1738C>T (p.Arg580Cys)
|
rs368918234
|
0.00014
|
NM_173630.4(RTTN):c.5055A>G (p.Leu1685=)
|
rs372431222
|
0.00014
|
NM_173630.4(RTTN):c.5115G>T (p.Gln1705His)
|
rs370590897
|
0.00014
|
NM_173630.4(RTTN):c.5139C>T (p.Ile1713=)
|
rs368483327
|
0.00014
|
NM_173630.4(RTTN):c.6369C>T (p.Ile2123=)
|
rs745431671
|
0.00014
|
NM_173630.4(RTTN):c.2318C>T (p.Ser773Leu)
|
rs375642538
|
0.00013
|
NM_173630.4(RTTN):c.590G>A (p.Ser197Asn)
|
rs549561642
|
0.00013
|
NM_173630.4(RTTN):c.2481+18G>T
|
rs746996156
|
0.00012
|
NM_173630.4(RTTN):c.5850C>T (p.Val1950=)
|
rs370480126
|
0.00012
|
NM_173630.4(RTTN):c.2030T>G (p.Phe677Cys)
|
rs200056219
|
0.00011
|
NM_173630.4(RTTN):c.2183A>C (p.Asp728Ala)
|
rs370674668
|
0.00011
|
NM_173630.4(RTTN):c.309T>C (p.Ala103=)
|
rs554154376
|
0.00011
|
NM_173630.4(RTTN):c.4644A>G (p.Ser1548=)
|
rs369951676
|
0.00011
|
NM_173630.4(RTTN):c.5200T>G (p.Ser1734Ala)
|
rs111886844
|
0.00011
|
NM_173630.4(RTTN):c.6021C>T (p.Ser2007=)
|
rs370896475
|
0.00011
|
NM_173630.4(RTTN):c.2172+10G>C
|
rs374856310
|
0.00010
|
NM_173630.4(RTTN):c.3137C>T (p.Thr1046Met)
|
rs200976618
|
0.00010
|
NM_173630.4(RTTN):c.3929G>A (p.Arg1310His)
|
rs202141467
|
0.00010
|
NM_173630.4(RTTN):c.80G>A (p.Cys27Tyr)
|
rs201884120
|
0.00010
|
NM_173630.4(RTTN):c.1639G>A (p.Val547Ile)
|
rs377209454
|
0.00009
|
NM_173630.4(RTTN):c.2581+8C>T
|
rs368691056
|
0.00009
|
NM_173630.4(RTTN):c.4033-21G>T
|
rs929083334
|
0.00009
|
NM_173630.4(RTTN):c.44C>T (p.Ala15Val)
|
rs200061908
|
0.00009
|
NM_173630.4(RTTN):c.4501C>T (p.Arg1501Trp)
|
rs374256500
|
0.00009
|
NM_173630.4(RTTN):c.4564+4A>C
|
rs368489465
|
0.00009
|
NM_173630.4(RTTN):c.5610G>A (p.Leu1870=)
|
rs376578513
|
0.00009
|
NM_173630.4(RTTN):c.952C>T (p.Arg318Cys)
|
rs373643907
|
0.00009
|
NM_173630.4(RTTN):c.2523T>A (p.Asp841Glu)
|
rs371829976
|
0.00008
|
NM_173630.4(RTTN):c.3332G>C (p.Gly1111Ala)
|
rs191606870
|
0.00008
|
NM_173630.4(RTTN):c.1944C>G (p.Val648=)
|
rs762667518
|
0.00007
|
NM_173630.4(RTTN):c.2309+10A>G
|
rs546048105
|
0.00007
|
NM_173630.4(RTTN):c.3663T>G (p.Asn1221Lys)
|
rs555257045
|
0.00007
|
NM_173630.4(RTTN):c.6535G>C (p.Ala2179Pro)
|
rs587780444
|
0.00007
|
NM_173630.4(RTTN):c.1777G>A (p.Glu593Lys)
|
rs371732895
|
0.00006
|
NM_173630.4(RTTN):c.2692C>A (p.Pro898Thr)
|
rs370508173
|
0.00006
|
NM_173630.4(RTTN):c.2881A>G (p.Met961Val)
|
rs371633774
|
0.00006
|
NM_173630.4(RTTN):c.3084A>G (p.Ser1028=)
|
rs764877763
|
0.00006
|
NM_173630.4(RTTN):c.3143+10T>C
|
rs201709074
|
0.00006
|
NM_173630.4(RTTN):c.3228C>T (p.Leu1076=)
|
rs184081126
|
0.00006
|
NM_173630.4(RTTN):c.4033-8C>A
|
rs752931623
|
0.00006
|
NM_173630.4(RTTN):c.4234G>A (p.Gly1412Ser)
|
rs370765246
|
0.00006
|
NM_173630.4(RTTN):c.4253T>C (p.Val1418Ala)
|
rs376967382
|
0.00006
|
NM_173630.4(RTTN):c.4564+8C>T
|
rs563328673
|
0.00006
|
NM_173630.4(RTTN):c.45C>T (p.Ala15=)
|
rs745355363
|
0.00006
|
NM_173630.4(RTTN):c.4654-11C>T
|
rs369228345
|
0.00006
|
NM_173630.4(RTTN):c.4877C>T (p.Thr1626Met)
|
rs781683199
|
0.00006
|
NM_173630.4(RTTN):c.5174A>C (p.Lys1725Thr)
|
rs200883952
|
0.00006
|
NM_173630.4(RTTN):c.5264G>C (p.Gly1755Ala)
|
rs569445270
|
0.00006
|
NM_173630.4(RTTN):c.5682A>G (p.Lys1894=)
|
rs745509191
|
0.00006
|
NM_173630.4(RTTN):c.579-15C>T
|
rs374868055
|
0.00006
|
NM_173630.4(RTTN):c.5904A>G (p.Gln1968=)
|
rs773824712
|
0.00006
|
NM_173630.4(RTTN):c.1710A>C (p.Glu570Asp)
|
rs761130082
|
0.00005
|
NM_173630.4(RTTN):c.1880T>C (p.Leu627Ser)
|
rs201273368
|
0.00005
|
NM_173630.4(RTTN):c.2391C>T (p.Asp797=)
|
rs746834538
|
0.00005
|
NM_173630.4(RTTN):c.3401C>G (p.Pro1134Arg)
|
rs751565369
|
0.00005
|
NM_173630.4(RTTN):c.4144-4A>G
|
rs756209832
|
0.00005
|
NM_173630.4(RTTN):c.694-18G>A
|
rs189559608
|
0.00005
|
NM_173630.4(RTTN):c.88G>T (p.Glu30Ter)
|
rs200495808
|
0.00005
|
NM_173630.4(RTTN):c.1357C>T (p.His453Tyr)
|
rs532836432
|
0.00004
|
NM_173630.4(RTTN):c.2943C>T (p.Ser981=)
|
rs373433381
|
0.00004
|
NM_173630.4(RTTN):c.3037G>A (p.Ala1013Thr)
|
rs748254074
|
0.00004
|
NM_173630.4(RTTN):c.350C>T (p.Ser117Leu)
|
rs201840025
|
0.00004
|
NM_173630.4(RTTN):c.3761C>T (p.Ala1254Val)
|
rs754194835
|
0.00004
|
NM_173630.4(RTTN):c.3825G>A (p.Ala1275=)
|
rs779429531
|
0.00004
|
NM_173630.4(RTTN):c.3991C>T (p.Leu1331Phe)
|
rs778372992
|
0.00004
|
NM_173630.4(RTTN):c.6222G>C (p.Leu2074=)
|
rs368522402
|
0.00004
|
NM_173630.4(RTTN):c.6627T>G (p.Asn2209Lys)
|
rs756900126
|
0.00004
|
NM_173630.4(RTTN):c.905A>C (p.Gln302Pro)
|
rs201044643
|
0.00004
|
NM_173630.4(RTTN):c.1028A>G (p.His343Arg)
|
rs1028579324
|
0.00003
|
NM_173630.4(RTTN):c.1305+11A>G
|
rs547572919
|
0.00003
|
NM_173630.4(RTTN):c.1351T>C (p.Cys451Arg)
|
rs371250250
|
0.00003
|
NM_173630.4(RTTN):c.1768C>T (p.Leu590=)
|
rs752422245
|
0.00003
|
NM_173630.4(RTTN):c.2378G>A (p.Arg793His)
|
rs776764068
|
0.00003
|
NM_173630.4(RTTN):c.3006C>T (p.Ser1002=)
|
rs746761740
|
0.00003
|
NM_173630.4(RTTN):c.3259G>A (p.Glu1087Lys)
|
rs909861285
|
0.00003
|
NM_173630.4(RTTN):c.3436A>G (p.Ile1146Val)
|
rs759726597
|
0.00003
|
NM_173630.4(RTTN):c.3701T>C (p.Leu1234Pro)
|
rs1017327751
|
0.00003
|
NM_173630.4(RTTN):c.3716C>T (p.Thr1239Met)
|
rs781273470
|
0.00003
|
NM_173630.4(RTTN):c.3794G>A (p.Arg1265Gln)
|
rs776437862
|
0.00003
|
NM_173630.4(RTTN):c.3872T>C (p.Ile1291Thr)
|
rs768583953
|
0.00003
|
NM_173630.4(RTTN):c.4029C>T (p.Ser1343=)
|
rs1030184279
|
0.00003
|
NM_173630.4(RTTN):c.4033-17C>G
|
rs200105809
|
0.00003
|
NM_173630.4(RTTN):c.4302+15T>C
|
rs369510503
|
0.00003
|
NM_173630.4(RTTN):c.4564+9G>A
|
rs374382343
|
0.00003
|
NM_173630.4(RTTN):c.4728T>A (p.His1576Gln)
|
rs182319351
|
0.00003
|
NM_173630.4(RTTN):c.474G>A (p.Pro158=)
|
rs370788902
|
0.00003
|
NM_173630.4(RTTN):c.5570T>C (p.Ile1857Thr)
|
rs369861224
|
0.00003
|
NM_173630.4(RTTN):c.5626G>A (p.Ala1876Thr)
|
rs763809812
|
0.00003
|
NM_173630.4(RTTN):c.5746-3T>C
|
rs370297567
|
0.00003
|
NM_173630.4(RTTN):c.5962C>T (p.Leu1988Phe)
|
rs769662761
|
0.00003
|
NM_173630.4(RTTN):c.6153+5G>A
|
rs587780443
|
0.00003
|
NM_173630.4(RTTN):c.6387C>T (p.Phe2129=)
|
rs370591340
|
0.00003
|
NM_173630.4(RTTN):c.723T>A (p.Phe241Leu)
|
rs2365902
|
0.00003
|
NM_173630.4(RTTN):c.780C>T (p.Cys260=)
|
rs752346295
|
0.00003
|
NM_173630.4(RTTN):c.840C>T (p.His280=)
|
rs192562671
|
0.00003
|
NM_173630.4(RTTN):c.1119A>C (p.Gln373His)
|
rs1003352207
|
0.00002
|
NM_173630.4(RTTN):c.1305G>C (p.Met435Ile)
|
rs769538499
|
0.00002
|
NM_173630.4(RTTN):c.1540A>G (p.Ile514Val)
|
rs761502781
|
0.00002
|
NM_173630.4(RTTN):c.1624C>T (p.Arg542Ter)
|
rs374356518
|
0.00002
|
NM_173630.4(RTTN):c.1751A>G (p.Tyr584Cys)
|
rs200801705
|
0.00002
|
NM_173630.4(RTTN):c.1869G>T (p.Leu623Phe)
|
rs757634334
|
0.00002
|
NM_173630.4(RTTN):c.1962C>T (p.Pro654=)
|
rs199706817
|
0.00002
|
NM_173630.4(RTTN):c.1963G>A (p.Val655Met)
|
rs747101627
|
0.00002
|
NM_173630.4(RTTN):c.2101C>T (p.Arg701Ter)
|
rs932327641
|
0.00002
|
NM_173630.4(RTTN):c.2119T>C (p.Leu707=)
|
rs749671850
|
0.00002
|
NM_173630.4(RTTN):c.2256G>A (p.Pro752=)
|
rs778505726
|
0.00002
|
NM_173630.4(RTTN):c.2309+11C>T
|
rs764403491
|
0.00002
|
NM_173630.4(RTTN):c.322A>G (p.Ile108Val)
|
rs375272609
|
0.00002
|
NM_173630.4(RTTN):c.3962G>A (p.Gly1321Asp)
|
rs781723384
|
0.00002
|
NM_173630.4(RTTN):c.4443A>T (p.Leu1481Phe)
|
rs774950381
|
0.00002
|
NM_173630.4(RTTN):c.4748-10T>G
|
rs367848114
|
0.00002
|
NM_173630.4(RTTN):c.5089T>C (p.Leu1697=)
|
rs973717604
|
0.00002
|
NM_173630.4(RTTN):c.5259A>G (p.Lys1753=)
|
rs1218745291
|
0.00002
|
NM_173630.4(RTTN):c.6154-12A>G
|
rs764188218
|
0.00002
|
NM_173630.4(RTTN):c.61G>T (p.Ala21Ser)
|
rs368406992
|
0.00002
|
NM_173630.4(RTTN):c.6421+1G>A
|
rs374274442
|
0.00002
|
NM_173630.4(RTTN):c.799C>G (p.Leu267Val)
|
rs529266509
|
0.00002
|
NM_173630.4(RTTN):c.837A>G (p.Lys279=)
|
rs757626007
|
0.00002
|
NM_173630.4(RTTN):c.1067T>C (p.Met356Thr)
|
rs776381467
|
0.00001
|
NM_173630.4(RTTN):c.1076T>C (p.Ile359Thr)
|
rs772137594
|
0.00001
|
NM_173630.4(RTTN):c.1203G>T (p.Val401=)
|
rs2061591198
|
0.00001
|
NM_173630.4(RTTN):c.1271T>C (p.Ile424Thr)
|
rs773064590
|
0.00001
|
NM_173630.4(RTTN):c.1273T>G (p.Trp425Gly)
|
rs200035293
|
0.00001
|
NM_173630.4(RTTN):c.12A>G (p.Ala4=)
|
rs1186597170
|
0.00001
|
NM_173630.4(RTTN):c.1430C>G (p.Ser477Cys)
|
rs777309515
|
0.00001
|
NM_173630.4(RTTN):c.1444C>T (p.Arg482Ter)
|
rs752150024
|
0.00001
|
NM_173630.4(RTTN):c.1583A>G (p.Tyr528Cys)
|
rs899518043
|
0.00001
|
NM_173630.4(RTTN):c.1609T>C (p.Tyr537His)
|
rs776988696
|
0.00001
|
NM_173630.4(RTTN):c.161A>G (p.Asn54Ser)
|
rs370272217
|
0.00001
|
NM_173630.4(RTTN):c.1690-11T>C
|
rs765375280
|
0.00001
|
NM_173630.4(RTTN):c.172G>A (p.Val58Ile)
|
rs779827162
|
0.00001
|
NM_173630.4(RTTN):c.179T>A (p.Met60Lys)
|
rs768122911
|
0.00001
|
NM_173630.4(RTTN):c.1840G>A (p.Glu614Lys)
|
rs898805529
|
0.00001
|
NM_173630.4(RTTN):c.189G>A (p.Glu63=)
|
rs751941000
|
0.00001
|
NM_173630.4(RTTN):c.2001T>C (p.His667=)
|
rs1236597279
|
0.00001
|
NM_173630.4(RTTN):c.207C>A (p.Ser69Arg)
|
rs1447774690
|
0.00001
|
NM_173630.4(RTTN):c.208A>G (p.Arg70Gly)
|
rs759058292
|
0.00001
|
NM_173630.4(RTTN):c.2114C>T (p.Thr705Ile)
|
rs34955511
|
0.00001
|
NM_173630.4(RTTN):c.220-16C>G
|
rs753370638
|
0.00001
|
NM_173630.4(RTTN):c.2217T>C (p.Leu739=)
|
rs1488096681
|
0.00001
|
NM_173630.4(RTTN):c.2262T>C (p.Thr754=)
|
rs768280717
|
0.00001
|
NM_173630.4(RTTN):c.2309C>T (p.Ser770Leu)
|
rs757093991
|
0.00001
|
NM_173630.4(RTTN):c.2482-15T>C
|
rs750930310
|
0.00001
|
NM_173630.4(RTTN):c.2520A>C (p.Ser840=)
|
rs1269456109
|
0.00001
|
NM_173630.4(RTTN):c.2552C>T (p.Ala851Val)
|
rs374285374
|
0.00001
|
NM_173630.4(RTTN):c.2581+7T>G
|
rs797045925
|
0.00001
|
NM_173630.4(RTTN):c.2738T>C (p.Met913Thr)
|
rs1064796431
|
0.00001
|
NM_173630.4(RTTN):c.2740C>T (p.Arg914Cys)
|
rs368507282
|
0.00001
|
NM_173630.4(RTTN):c.2747C>T (p.Ser916Leu)
|
rs769752754
|
0.00001
|
NM_173630.4(RTTN):c.2789-11T>G
|
rs1258727329
|
0.00001
|
NM_173630.4(RTTN):c.2820C>T (p.Val940=)
|
rs371663654
|
0.00001
|
NM_173630.4(RTTN):c.2921C>T (p.Ser974Leu)
|
rs1284338810
|
0.00001
|
NM_173630.4(RTTN):c.3018C>T (p.Pro1006=)
|
rs369927073
|
0.00001
|
NM_173630.4(RTTN):c.3045G>A (p.Lys1015=)
|
rs1443333617
|
0.00001
|
NM_173630.4(RTTN):c.3047C>T (p.Pro1016Leu)
|
rs376633925
|
0.00001
|
NM_173630.4(RTTN):c.3115C>G (p.Gln1039Glu)
|
rs770836677
|
0.00001
|
NM_173630.4(RTTN):c.3250A>G (p.Thr1084Ala)
|
rs761597986
|
0.00001
|
NM_173630.4(RTTN):c.3257G>C (p.Arg1086Thr)
|
rs199762299
|
0.00001
|
NM_173630.4(RTTN):c.3274G>A (p.Val1092Ile)
|
rs763211093
|
0.00001
|
NM_173630.4(RTTN):c.3316T>C (p.Leu1106=)
|
rs142614017
|
0.00001
|
NM_173630.4(RTTN):c.3337T>C (p.Cys1113Arg)
|
rs587780442
|
0.00001
|
NM_173630.4(RTTN):c.3346A>G (p.Thr1116Ala)
|
rs2059896238
|
0.00001
|
NM_173630.4(RTTN):c.3438C>T (p.Ile1146=)
|
rs754083137
|
0.00001
|
NM_173630.4(RTTN):c.3449T>A (p.Leu1150Ter)
|
rs766635681
|
0.00001
|
NM_173630.4(RTTN):c.3492A>C (p.Glu1164Asp)
|
rs865910770
|
0.00001
|
NM_173630.4(RTTN):c.3552C>G (p.Leu1184=)
|
rs1365927532
|
0.00001
|
NM_173630.4(RTTN):c.3673G>A (p.Val1225Ile)
|
rs1263837138
|
0.00001
|
NM_173630.4(RTTN):c.3787C>G (p.Leu1263Val)
|
rs769785834
|
0.00001
|
NM_173630.4(RTTN):c.3810G>A (p.Met1270Ile)
|
rs773411890
|
0.00001
|
NM_173630.4(RTTN):c.4001C>T (p.Ser1334Phe)
|
rs754523239
|
0.00001
|
NM_173630.4(RTTN):c.4028G>A (p.Ser1343Asn)
|
rs1183679390
|
0.00001
|
NM_173630.4(RTTN):c.406A>G (p.Lys136Glu)
|
rs779258069
|
0.00001
|
NM_173630.4(RTTN):c.4101A>G (p.Gly1367=)
|
rs775191510
|
0.00001
|
NM_173630.4(RTTN):c.4306G>T (p.Ala1436Ser)
|
rs769446702
|
0.00001
|
NM_173630.4(RTTN):c.4327C>T (p.Leu1443Phe)
|
rs980776312
|
0.00001
|
NM_173630.4(RTTN):c.4401T>C (p.Ser1467=)
|
rs370374328
|
0.00001
|
NM_173630.4(RTTN):c.4410G>A (p.Ser1470=)
|
rs752694402
|
0.00001
|
NM_173630.4(RTTN):c.4430T>G (p.Leu1477Arg)
|
rs753624472
|
0.00001
|
NM_173630.4(RTTN):c.4444dup (p.Tyr1482fs)
|
rs779516131
|
0.00001
|
NM_173630.4(RTTN):c.4526C>G (p.Ser1509Cys)
|
rs2058400959
|
0.00001
|
NM_173630.4(RTTN):c.4564+12A>G
|
rs370107144
|
0.00001
|
NM_173630.4(RTTN):c.4690C>T (p.Leu1564Phe)
|
rs746899393
|
0.00001
|
NM_173630.4(RTTN):c.4754A>G (p.Gln1585Arg)
|
rs1409042373
|
0.00001
|
NM_173630.4(RTTN):c.4772G>A (p.Arg1591Gln)
|
rs543724689
|
0.00001
|
NM_173630.4(RTTN):c.4864G>A (p.Asp1622Asn)
|
rs886042189
|
0.00001
|
NM_173630.4(RTTN):c.4932T>G (p.Leu1644=)
|
rs1057521884
|
0.00001
|
NM_173630.4(RTTN):c.4995G>A (p.Leu1665=)
|
rs542445993
|
0.00001
|
NM_173630.4(RTTN):c.5000C>T (p.Ser1667Leu)
|
rs374879832
|
0.00001
|
NM_173630.4(RTTN):c.5032G>A (p.Val1678Ile)
|
rs760864208
|
0.00001
|
NM_173630.4(RTTN):c.5214C>G (p.His1738Gln)
|
rs780831377
|
0.00001
|
NM_173630.4(RTTN):c.5647+10A>G
|
rs1057523916
|
0.00001
|
NM_173630.4(RTTN):c.5690A>T (p.Asn1897Ile)
|
rs746926127
|
0.00001
|
NM_173630.4(RTTN):c.5750A>G (p.Asp1917Gly)
|
rs780270096
|
0.00001
|
NM_173630.4(RTTN):c.5810A>G (p.Asn1937Ser)
|
rs1421920938
|
0.00001
|
NM_173630.4(RTTN):c.5950+10T>A
|
rs1458557317
|
0.00001
|
NM_173630.4(RTTN):c.5951-11T>C
|
rs1031455959
|
0.00001
|
NM_173630.4(RTTN):c.6183A>G (p.Leu2061=)
|
rs1042234290
|
0.00001
|
NM_173630.4(RTTN):c.6301T>C (p.Cys2101Arg)
|
rs201253231
|
0.00001
|
NM_173630.4(RTTN):c.640A>G (p.Ile214Val)
|
rs797045926
|
0.00001
|
NM_173630.4(RTTN):c.6422-14A>G
|
rs370225339
|
0.00001
|
NM_173630.4(RTTN):c.6433A>G (p.Thr2145Ala)
|
rs996914209
|
0.00001
|
NM_173630.4(RTTN):c.6443C>A (p.Ala2148Asp)
|
rs757807524
|
0.00001
|
NM_173630.4(RTTN):c.6525+18_6525+19dup
|
rs1290652773
|
0.00001
|
NM_173630.4(RTTN):c.673C>T (p.Gln225Ter)
|
rs199700128
|
0.00001
|
NM_173630.4(RTTN):c.71G>C (p.Ser24Thr)
|
rs374232490
|
0.00001
|
NM_173630.4(RTTN):c.727_728insGAC (p.Asp243delinsGlyHis)
|
rs1568554608
|
0.00001
|
NM_173630.4(RTTN):c.796A>T (p.Arg266Ter)
|
rs1131691284
|
0.00001
|
NM_173630.4(RTTN):c.96C>G (p.Asn32Lys)
|
rs373704963
|
0.00001
|
NM_173630.4(RTTN):c.998C>T (p.Ala333Val)
|
rs577076002
|
0.00001
|
NM_173630.4(RTTN):c.999G>A (p.Ala333=)
|
rs755744735
|
0.00001
|
GRCh37/hg19 18q22.2(chr18:67653251-67708740)
|
|
|
GRCh37/hg19 18q22.2(chr18:67653252-67734826)x1
|
|
|
GRCh37/hg19 18q22.2(chr18:67671387-67809623)x1
|
|
|
GRCh37/hg19 18q22.2(chr18:67753977-67788395)
|
|
|
NC_000018.10:g.70205914del
|
rs200984342
|
|
NC_000018.9:g.(67742778_67753848)_(67753921_67755224)del
|
|
|
NC_000018.9:g.(?_67671387)_(67872894_?)dup
|
|
|
NC_000018.9:g.(?_67741122)_(67872894_?)dup
|
|
|
NC_000018.9:g.(?_67753829)_(67753940_?)del
|
|
|
NC_000018.9:g.(?_67781793)_(67789868_?)del
|
|
|
NC_000018.9:g.67742689_67765169dup
|
|
|
NM_173630.4(RTTN):c.*5C>T
|
|
|
NM_173630.4(RTTN):c.-6G>C
|
|
|
NM_173630.4(RTTN):c.1007+102_1007+111del
|
rs35759421
|
|
NM_173630.4(RTTN):c.1007+111del
|
rs35759421
|
|
NM_173630.4(RTTN):c.1007+112G>T
|
rs1031052387
|
|
NM_173630.4(RTTN):c.1007+8C>A
|
|
|
NM_173630.4(RTTN):c.1007+92dup
|
rs35759421
|
|
NM_173630.4(RTTN):c.1022A>C (p.His341Pro)
|
|
|
NM_173630.4(RTTN):c.1045T>G (p.Ser349Ala)
|
|
|
NM_173630.4(RTTN):c.1075A>G (p.Ile359Val)
|
rs527433108
|
|
NM_173630.4(RTTN):c.1114C>A (p.Leu372Ile)
|
rs1176155751
|
|
NM_173630.4(RTTN):c.1123C>T (p.Gln375Ter)
|
rs2146092980
|
|
NM_173630.4(RTTN):c.1137T>C (p.Leu379=)
|
rs1600017993
|
|
NM_173630.4(RTTN):c.1154C>G (p.Ser385Cys)
|
|
|
NM_173630.4(RTTN):c.1156A>G (p.Ile386Val)
|
|
|
NM_173630.4(RTTN):c.1174C>T (p.Pro392Ser)
|
|
|
NM_173630.4(RTTN):c.1187C>T (p.Thr396Ile)
|
|
|
NM_173630.4(RTTN):c.1188A>G (p.Thr396=)
|
|
|
NM_173630.4(RTTN):c.1190-16dup
|
|
|
NM_173630.4(RTTN):c.1190-8A>G
|
|
|
NM_173630.4(RTTN):c.1193G>C (p.Ser398Thr)
|
|
|
NM_173630.4(RTTN):c.1215T>C (p.Val405=)
|
|
|
NM_173630.4(RTTN):c.1234G>T (p.Asp412Tyr)
|
|
|
NM_173630.4(RTTN):c.1255_1256delinsAA (p.Ala419Lys)
|
|
|
NM_173630.4(RTTN):c.1272C>G (p.Ile424Met)
|
|
|
NM_173630.4(RTTN):c.1281C>T (p.Asp427=)
|
|
|
NM_173630.4(RTTN):c.1298T>C (p.Ile433Thr)
|
|
|
NM_173630.4(RTTN):c.1305+6A>G
|
|
|
NM_173630.4(RTTN):c.1317A>G (p.Leu439=)
|
|
|
NM_173630.4(RTTN):c.1318C>T (p.Leu440Phe)
|
|
|
NM_173630.4(RTTN):c.1333G>A (p.Ala445Thr)
|
|
|
NM_173630.4(RTTN):c.1351T>G (p.Cys451Gly)
|
|
|
NM_173630.4(RTTN):c.1355A>G (p.Tyr452Cys)
|
|
|
NM_173630.4(RTTN):c.1407C>G (p.His469Gln)
|
|
|
NM_173630.4(RTTN):c.140T>A (p.Leu47His)
|
rs1463558882
|
|
NM_173630.4(RTTN):c.1410A>T (p.Arg470Ser)
|
rs2145984066
|
|
NM_173630.4(RTTN):c.1423A>G (p.Ser475Gly)
|
rs368044623
|
|
NM_173630.4(RTTN):c.1423A>T (p.Ser475Cys)
|
|
|
NM_173630.4(RTTN):c.1426A>T (p.Ile476Phe)
|
|
|
NM_173630.4(RTTN):c.1471G>C (p.Glu491Gln)
|
|
|
NM_173630.4(RTTN):c.1476+18G>A
|
|
|
NM_173630.4(RTTN):c.1476+295_1476+298del
|
rs372590513
|
|
NM_173630.4(RTTN):c.1481G>A (p.Ser494Asn)
|
|
|
NM_173630.4(RTTN):c.1482C>G (p.Ser494Arg)
|
rs373681156
|
|
NM_173630.4(RTTN):c.1482C>T (p.Ser494=)
|
|
|
NM_173630.4(RTTN):c.1483G>A (p.Glu495Lys)
|
|
|
NM_173630.4(RTTN):c.1491dup (p.Ser498fs)
|
|
|
NM_173630.4(RTTN):c.1500T>C (p.Pro500=)
|
|
|
NM_173630.4(RTTN):c.1501A>G (p.Met501Val)
|
|
|
NM_173630.4(RTTN):c.1536G>A (p.Met512Ile)
|
rs2061065223
|
|
NM_173630.4(RTTN):c.1540A>T (p.Ile514Phe)
|
|
|
NM_173630.4(RTTN):c.1550A>C (p.Glu517Ala)
|
|
|
NM_173630.4(RTTN):c.1564C>T (p.His522Tyr)
|
|
|
NM_173630.4(RTTN):c.1579G>A (p.Ala527Thr)
|
|
|
NM_173630.4(RTTN):c.1599T>A (p.Asn533Lys)
|
|
|
NM_173630.4(RTTN):c.1601C>A (p.Ser534Tyr)
|
|
|
NM_173630.4(RTTN):c.1607A>G (p.Asn536Ser)
|
|
|
NM_173630.4(RTTN):c.1608C>A (p.Asn536Lys)
|
|
|
NM_173630.4(RTTN):c.1625G>A (p.Arg542Gln)
|
|
|
NM_173630.4(RTTN):c.1642T>A (p.Tyr548Asn)
|
|
|
NM_173630.4(RTTN):c.1643A>T (p.Tyr548Phe)
|
|
|
NM_173630.4(RTTN):c.1652A>T (p.Glu551Val)
|
|
|
NM_173630.4(RTTN):c.1659C>T (p.Thr553=)
|
|
|
NM_173630.4(RTTN):c.1673C>A (p.Ser558Tyr)
|
rs777233196
|
|
NM_173630.4(RTTN):c.1673C>T (p.Ser558Phe)
|
|
|
NM_173630.4(RTTN):c.1678del (p.Ile560fs)
|
rs2145924056
|
|
NM_173630.4(RTTN):c.1679T>C (p.Ile560Thr)
|
|
|
NM_173630.4(RTTN):c.1685A>G (p.Lys562Arg)
|
|
|
NM_173630.4(RTTN):c.1690-164C>A
|
rs7227882
|
|
NM_173630.4(RTTN):c.171C>T (p.Ser57=)
|
|
|
NM_173630.4(RTTN):c.1724C>G (p.Ala575Gly)
|
|
|
NM_173630.4(RTTN):c.1732G>C (p.Ala578Pro)
|
rs775277800
|
|
NM_173630.4(RTTN):c.1734C>T (p.Ala578=)
|
|
|
NM_173630.4(RTTN):c.1788C>G (p.Ser596Arg)
|
|
|
NM_173630.4(RTTN):c.1802+11C>A
|
|
|
NM_173630.4(RTTN):c.1803-19T>C
|
|
|
NM_173630.4(RTTN):c.1811C>T (p.Ser604Phe)
|
|
|
NM_173630.4(RTTN):c.1832T>C (p.Leu611Pro)
|
|
|
NM_173630.4(RTTN):c.1838G>A (p.Gly613Glu)
|
|
|
NM_173630.4(RTTN):c.1838G>C (p.Gly613Ala)
|
rs749520981
|
|
NM_173630.4(RTTN):c.1843A>G (p.Ser615Gly)
|
|
|
NM_173630.4(RTTN):c.1866G>A (p.Met622Ile)
|
|
|
NM_173630.4(RTTN):c.187G>A (p.Glu63Lys)
|
|
|
NM_173630.4(RTTN):c.1885C>T (p.Arg629Ter)
|
|
|
NM_173630.4(RTTN):c.1890G>A (p.Val630=)
|
|
|
NM_173630.4(RTTN):c.18C>G (p.Leu6=)
|
|
|
NM_173630.4(RTTN):c.1925C>G (p.Thr642Arg)
|
rs760276630
|
|
NM_173630.4(RTTN):c.1926G>A (p.Thr642=)
|
|
|
NM_173630.4(RTTN):c.1929+17dup
|
|
|
NM_173630.4(RTTN):c.1929+19G>A
|
|
|
NM_173630.4(RTTN):c.1930-151_1930-148del
|
rs60448685
|
|
NM_173630.4(RTTN):c.1932A>G (p.Glu644=)
|
|
|
NM_173630.4(RTTN):c.1940G>A (p.Gly647Asp)
|
|
|
NM_173630.4(RTTN):c.1941T>A (p.Gly647=)
|
|
|
NM_173630.4(RTTN):c.1946A>G (p.His649Arg)
|
|
|
NM_173630.4(RTTN):c.1967C>T (p.Ser656Phe)
|
|
|
NM_173630.4(RTTN):c.1979A>T (p.Asn660Ile)
|
rs755371922
|
|
NM_173630.4(RTTN):c.1982G>T (p.Gly661Val)
|
rs778494442
|
|
NM_173630.4(RTTN):c.19A>G (p.Ile7Val)
|
|
|
NM_173630.4(RTTN):c.2009T>A (p.Val670Asp)
|
|
|
NM_173630.4(RTTN):c.2015A>G (p.Tyr672Cys)
|
rs2145794920
|
|
NM_173630.4(RTTN):c.2034C>T (p.Gly678=)
|
|
|
NM_173630.4(RTTN):c.2046C>T (p.Pro682=)
|
|
|
NM_173630.4(RTTN):c.2047G>A (p.Glu683Lys)
|
|
|
NM_173630.4(RTTN):c.2053G>T (p.Glu685Ter)
|
|
|
NM_173630.4(RTTN):c.2055+15A>G
|
|
|
NM_173630.4(RTTN):c.2055+33G>C
|
rs116715798
|
|
NM_173630.4(RTTN):c.2055+8A>G
|
rs369247502
|
|
NM_173630.4(RTTN):c.2056-12_2056-11del
|
rs762405595
|
|
NM_173630.4(RTTN):c.2056-18G>A
|
rs1477500731
|
|
NM_173630.4(RTTN):c.2056-5A>G
|
|
|
NM_173630.4(RTTN):c.2059A>G (p.Asn687Asp)
|
|
|
NM_173630.4(RTTN):c.2082G>T (p.Leu694=)
|
rs1210162355
|
|
NM_173630.4(RTTN):c.2099G>A (p.Gly700Glu)
|
|
|
NM_173630.4(RTTN):c.2124C>T (p.Thr708=)
|
|
|
NM_173630.4(RTTN):c.2172+8G>C
|
|
|
NM_173630.4(RTTN):c.2174delG (p.Gly725fs)
|
rs2145783332
|
|
NM_173630.4(RTTN):c.2181C>A (p.Ala727=)
|
|
|
NM_173630.4(RTTN):c.2181C>T (p.Ala727=)
|
|
|
NM_173630.4(RTTN):c.2182G>A (p.Asp728Asn)
|
|
|
NM_173630.4(RTTN):c.2183A>G (p.Asp728Gly)
|
rs370674668
|
|
NM_173630.4(RTTN):c.2190A>C (p.Glu730Asp)
|
|
|
NM_173630.4(RTTN):c.2194C>T (p.Pro732Ser)
|
|
|
NM_173630.4(RTTN):c.220-15C>T
|
|
|
NM_173630.4(RTTN):c.220-1G>A
|
|
|
NM_173630.4(RTTN):c.220-7A>G
|
|
|
NM_173630.4(RTTN):c.2201G>A (p.Gly734Asp)
|
rs2145782871
|
|
NM_173630.4(RTTN):c.2203A>G (p.Asn735Asp)
|
rs2060468580
|
|
NM_173630.4(RTTN):c.2214C>T (p.Leu738=)
|
|
|
NM_173630.4(RTTN):c.2237A>C (p.Asp746Ala)
|
|
|
NM_173630.4(RTTN):c.223C>A (p.Pro75Thr)
|
|
|
NM_173630.4(RTTN):c.223C>G (p.Pro75Ala)
|
|
|
NM_173630.4(RTTN):c.2277C>G (p.Ser759=)
|
|
|
NM_173630.4(RTTN):c.2278A>G (p.Met760Val)
|
|
|
NM_173630.4(RTTN):c.2291T>G (p.Leu764Trp)
|
|
|
NM_173630.4(RTTN):c.2309+16T>G
|
|
|
NM_173630.4(RTTN):c.2309+5G>A
|
|
|
NM_173630.4(RTTN):c.2309+950T>C
|
rs9963733
|
|
NM_173630.4(RTTN):c.2310-11T>G
|
|
|
NM_173630.4(RTTN):c.2310-5C>G
|
|
|
NM_173630.4(RTTN):c.2315G>A (p.Arg772His)
|
|
|
NM_173630.4(RTTN):c.2319G>A (p.Ser773=)
|
|
|
NM_173630.4(RTTN):c.2323G>A (p.Ala775Thr)
|
|
|
NM_173630.4(RTTN):c.2325A>G (p.Ala775=)
|
|
|
NM_173630.4(RTTN):c.2331G>A (p.Lys777=)
|
|
|
NM_173630.4(RTTN):c.2334T>G (p.Leu778=)
|
|
|
NM_173630.4(RTTN):c.2345A>T (p.His782Leu)
|
|
|
NM_173630.4(RTTN):c.234C>T (p.Val78=)
|
rs2146202764
|
|
NM_173630.4(RTTN):c.2350A>T (p.Thr784Ser)
|
|
|
NM_173630.4(RTTN):c.2351C>T (p.Thr784Ile)
|
|
|
NM_173630.4(RTTN):c.2449A>G (p.Arg817Gly)
|
|
|
NM_173630.4(RTTN):c.2480A>G (p.Lys827Arg)
|
|
|
NM_173630.4(RTTN):c.2481+11A>G
|
rs2145755230
|
|
NM_173630.4(RTTN):c.2481+6T>C
|
rs367787928
|
|
NM_173630.4(RTTN):c.2482-10del
|
rs747938327
|
|
NM_173630.4(RTTN):c.2482-1G>T
|
|
|
NM_173630.4(RTTN):c.2482-20T>G
|
|
|
NM_173630.4(RTTN):c.2482-24dup
|
rs747938327
|
|
NM_173630.4(RTTN):c.2482-26dup
|
rs374045309
|
|
NM_173630.4(RTTN):c.2482-8del
|
rs765930571
|
|
NM_173630.4(RTTN):c.2528_2530del (p.Val843del)
|
|
|
NM_173630.4(RTTN):c.253G>A (p.Gly85Ser)
|
|
|
NM_173630.4(RTTN):c.2551G>C (p.Ala851Pro)
|
|
|
NM_173630.4(RTTN):c.2575A>T (p.Met859Leu)
|
|
|
NM_173630.4(RTTN):c.257C>T (p.Ala86Val)
|
rs797045924
|
|
NM_173630.4(RTTN):c.2581+15G>A
|
|
|
NM_173630.4(RTTN):c.2581+1G>A
|
|
|
NM_173630.4(RTTN):c.2581+20A>G
|
rs2060275640
|
|
NM_173630.4(RTTN):c.2582-16C>T
|
|
|
NM_173630.4(RTTN):c.2582-4A>G
|
rs758892535
|
|
NM_173630.4(RTTN):c.2585T>C (p.Ile862Thr)
|
|
|
NM_173630.4(RTTN):c.25A>G (p.Lys9Glu)
|
|
|
NM_173630.4(RTTN):c.2601G>A (p.Val867=)
|
rs2145715138
|
|
NM_173630.4(RTTN):c.2621T>C (p.Ile874Thr)
|
|
|
NM_173630.4(RTTN):c.2636A>T (p.Glu879Val)
|
rs1403643500
|
|
NM_173630.4(RTTN):c.2637G>A (p.Glu879=)
|
|
|
NM_173630.4(RTTN):c.2650T>C (p.Cys884Arg)
|
|
|
NM_173630.4(RTTN):c.2670+9A>T
|
rs200758402
|
|
NM_173630.4(RTTN):c.2670_2670+2del
|
|
|
NM_173630.4(RTTN):c.2671-9C>T
|
|
|
NM_173630.4(RTTN):c.2680T>C (p.Cys894Arg)
|
|
|
NM_173630.4(RTTN):c.2691A>G (p.Gln897=)
|
|
|
NM_173630.4(RTTN):c.2692C>T (p.Pro898Ser)
|
|
|
NM_173630.4(RTTN):c.26A>G (p.Lys9Arg)
|
|
|
NM_173630.4(RTTN):c.2708del (p.Leu902_Leu903insTer)
|
|
|
NM_173630.4(RTTN):c.2716G>T (p.Val906Phe)
|
|
|
NM_173630.4(RTTN):c.273T>C (p.Ser91=)
|
|
|
NM_173630.4(RTTN):c.2748G>A (p.Ser916=)
|
rs765124195
|
|
NM_173630.4(RTTN):c.274A>C (p.Lys92Gln)
|
|
|
NM_173630.4(RTTN):c.2753C>A (p.Ser918Ter)
|
rs759249497
|
|
NM_173630.4(RTTN):c.2753C>T (p.Ser918Leu)
|
|
|
NM_173630.4(RTTN):c.2754G>A (p.Ser918=)
|
|
|
NM_173630.4(RTTN):c.2776G>A (p.Val926Met)
|
|
|
NM_173630.4(RTTN):c.2788+18T>A
|
|
|
NM_173630.4(RTTN):c.2788+7A>T
|
|
|
NM_173630.4(RTTN):c.2789-1G>C
|
rs1467484094
|
|
NM_173630.4(RTTN):c.2796A>T (p.Leu932Phe)
|
rs318240757
|
|
NM_173630.4(RTTN):c.27A>G (p.Lys9=)
|
rs1555784718
|
|
NM_173630.4(RTTN):c.2806G>A (p.Glu936Lys)
|
|
|
NM_173630.4(RTTN):c.2807A>G (p.Glu936Gly)
|
|
|
NM_173630.4(RTTN):c.280C>T (p.Arg94Trp)
|
rs1490930098
|
|
NM_173630.4(RTTN):c.281G>C (p.Arg94Pro)
|
|
|
NM_173630.4(RTTN):c.2821G>C (p.Val941Leu)
|
|
|
NM_173630.4(RTTN):c.282G>C (p.Arg94=)
|
|
|
NM_173630.4(RTTN):c.2853A>G (p.Leu951=)
|
|
|
NM_173630.4(RTTN):c.285T>G (p.Ser95=)
|
|
|
NM_173630.4(RTTN):c.2883G>A (p.Met961Ile)
|
|
|
NM_173630.4(RTTN):c.2885+20A>G
|
|
|
NM_173630.4(RTTN):c.2885+245del
|
rs199598647
|
|
NM_173630.4(RTTN):c.2885+8A>G
|
rs864321620
|
|
NM_173630.4(RTTN):c.2886-2A>G
|
|
|
NM_173630.4(RTTN):c.2886G>A (p.Trp962Ter)
|
|
|
NM_173630.4(RTTN):c.2912C>G (p.Ser971Cys)
|
|
|
NM_173630.4(RTTN):c.2919A>G (p.Pro973=)
|
|
|
NM_173630.4(RTTN):c.2927T>C (p.Phe976Ser)
|
rs886039611
|
|
NM_173630.4(RTTN):c.2944G>A (p.Val982Ile)
|
|
|
NM_173630.4(RTTN):c.2953A>G (p.Arg985Gly)
|
|
|
NM_173630.4(RTTN):c.2954+6G>T
|
|
|
NM_173630.4(RTTN):c.2954+7G>C
|
|
|
NM_173630.4(RTTN):c.2955-174del
|
rs142593943
|
|
NM_173630.4(RTTN):c.2955-20T>C
|
|
|
NM_173630.4(RTTN):c.2991T>C (p.Ala997=)
|
|
|
NM_173630.4(RTTN):c.29T>C (p.Leu10Pro)
|
rs2062061239
|
|
NM_173630.4(RTTN):c.2T>C (p.Met1Thr)
|
rs1568571414
|
|
NM_173630.4(RTTN):c.3027T>C (p.Ala1009=)
|
|
|
NM_173630.4(RTTN):c.3032G>T (p.Cys1011Phe)
|
|
|
NM_173630.4(RTTN):c.3039C>T (p.Ala1013=)
|
|
|
NM_173630.4(RTTN):c.3042G>A (p.Leu1014=)
|
|
|
NM_173630.4(RTTN):c.3059T>C (p.Met1020Thr)
|
rs2059920096
|
|
NM_173630.4(RTTN):c.3077A>G (p.Asn1026Ser)
|
|
|
NM_173630.4(RTTN):c.30C>T (p.Leu10=)
|
|
|
NM_173630.4(RTTN):c.31+11G>C
|
|
|
NM_173630.4(RTTN):c.3128A>G (p.Glu1043Gly)
|
|
|
NM_173630.4(RTTN):c.3138G>A (p.Thr1046=)
|
|
|
NM_173630.4(RTTN):c.3143+12T>A
|
|
|
NM_173630.4(RTTN):c.3143+12T>C
|
|
|
NM_173630.4(RTTN):c.3143+144C>A
|
rs116794642
|
|
NM_173630.4(RTTN):c.3143+7T>G
|
|
|
NM_173630.4(RTTN):c.3144-6G>T
|
rs1243361662
|
|
NM_173630.4(RTTN):c.3157T>C (p.Leu1053=)
|
rs1599682423
|
|
NM_173630.4(RTTN):c.3166T>C (p.Ser1056Pro)
|
|
|
NM_173630.4(RTTN):c.3175_3178del (p.Asp1059fs)
|
rs2145613736
|
|
NM_173630.4(RTTN):c.3190A>C (p.Lys1064Gln)
|
rs864321621
|
|
NM_173630.4(RTTN):c.32-12G>T
|
|
|
NM_173630.4(RTTN):c.32-17G>T
|
|
|
NM_173630.4(RTTN):c.3216G>T (p.Leu1072=)
|
rs369222015
|
|
NM_173630.4(RTTN):c.3233C>A (p.Ser1078Tyr)
|
|
|
NM_173630.4(RTTN):c.3236_3237delinsGG (p.Ile1079Arg)
|
|
|
NM_173630.4(RTTN):c.3238_3241del (p.Val1080fs)
|
|
|
NM_173630.4(RTTN):c.3248C>T (p.Ala1083Val)
|
|
|
NM_173630.4(RTTN):c.3255C>T (p.His1085=)
|
|
|
NM_173630.4(RTTN):c.3261A>T (p.Glu1087Asp)
|
rs1382410101
|
|
NM_173630.4(RTTN):c.3280A>C (p.Arg1094=)
|
|
|
NM_173630.4(RTTN):c.3282G>A (p.Arg1094=)
|
|
|
NM_173630.4(RTTN):c.331G>C (p.Gly111Arg)
|
|
|
NM_173630.4(RTTN):c.3321G>A (p.Lys1107=)
|
rs147728279
|
|
NM_173630.4(RTTN):c.3321G>C (p.Lys1107Asn)
|
rs147728279
|
|
NM_173630.4(RTTN):c.3372C>A (p.Thr1124=)
|
rs763915858
|
|
NM_173630.4(RTTN):c.3373G>A (p.Ala1125Thr)
|
rs183531175
|
|
NM_173630.4(RTTN):c.3373G>T (p.Ala1125Ser)
|
|
|
NM_173630.4(RTTN):c.3378A>G (p.Leu1126=)
|
|
|
NM_173630.4(RTTN):c.3380dup (p.Asn1127fs)
|
rs797044691
|
|
NM_173630.4(RTTN):c.3384-4A>G
|
rs1455491554
|
|
NM_173630.4(RTTN):c.3384-8C>T
|
|
|
NM_173630.4(RTTN):c.3390A>G (p.Leu1130=)
|
|
|
NM_173630.4(RTTN):c.3400C>T (p.Pro1134Ser)
|
|
|
NM_173630.4(RTTN):c.3401C>T (p.Pro1134Leu)
|
|
|
NM_173630.4(RTTN):c.3409A>G (p.Thr1137Ala)
|
|
|
NM_173630.4(RTTN):c.3460A>G (p.Ile1154Val)
|
|
|
NM_173630.4(RTTN):c.3470A>G (p.Gln1157Arg)
|
|
|
NM_173630.4(RTTN):c.3487C>T (p.Leu1163=)
|
|
|
NM_173630.4(RTTN):c.3494T>A (p.Leu1165His)
|
|
|
NM_173630.4(RTTN):c.3510C>T (p.Leu1170=)
|
|
|
NM_173630.4(RTTN):c.3511G>A (p.Glu1171Lys)
|
|
|
NM_173630.4(RTTN):c.3529-11del
|
rs758934823
|
|
NM_173630.4(RTTN):c.3529-16A>G
|
|
|
NM_173630.4(RTTN):c.3529-19T>C
|
|
|
NM_173630.4(RTTN):c.3529-2del
|
|
|
NM_173630.4(RTTN):c.3529-9A>G
|
|
|
NM_173630.4(RTTN):c.352G>C (p.Glu118Gln)
|
|
|
NM_173630.4(RTTN):c.3559C>G (p.Leu1187Val)
|
|
|
NM_173630.4(RTTN):c.3574G>A (p.Ala1192Thr)
|
|
|
NM_173630.4(RTTN):c.3577C>T (p.Arg1193Ter)
|
rs1280580731
|
|
NM_173630.4(RTTN):c.3586A>G (p.Thr1196Ala)
|
|
|
NM_173630.4(RTTN):c.3589_3590del (p.Thr1196_Asp1197insTer)
|
rs886041460
|
|
NM_173630.4(RTTN):c.3593A>G (p.Asp1198Gly)
|
|
|
NM_173630.4(RTTN):c.3596T>C (p.Ile1199Thr)
|
|
|
NM_173630.4(RTTN):c.3633G>A (p.Leu1211=)
|
|
|
NM_173630.4(RTTN):c.3636T>A (p.Ile1212=)
|
|
|
NM_173630.4(RTTN):c.3662A>G (p.Asn1221Ser)
|
|
|
NM_173630.4(RTTN):c.3668T>C (p.Met1223Thr)
|
|
|
NM_173630.4(RTTN):c.3669G>A (p.Met1223Ile)
|
|
|
NM_173630.4(RTTN):c.3682A>C (p.Arg1228=)
|
|
|
NM_173630.4(RTTN):c.3683+18G>T
|
|
|
NM_173630.4(RTTN):c.3683+19C>T
|
|
|
NM_173630.4(RTTN):c.3684-17C>T
|
|
|
NM_173630.4(RTTN):c.36T>C (p.His12=)
|
|
|
NM_173630.4(RTTN):c.3705C>A (p.Tyr1235Ter)
|
rs375510822
|
|
NM_173630.4(RTTN):c.3706G>A (p.Val1236Ile)
|
|
|
NM_173630.4(RTTN):c.3714A>G (p.Gln1238=)
|
|
|
NM_173630.4(RTTN):c.3717G>A (p.Thr1239=)
|
|
|
NM_173630.4(RTTN):c.3735G>C (p.Leu1245=)
|
|
|
NM_173630.4(RTTN):c.374C>T (p.Ala125Val)
|
|
|
NM_173630.4(RTTN):c.3755C>T (p.Thr1252Met)
|
|
|
NM_173630.4(RTTN):c.3756G>A (p.Thr1252=)
|
|
|
NM_173630.4(RTTN):c.375_376delinsTG (p.Ser126Ala)
|
rs2146201494
|
|
NM_173630.4(RTTN):c.3764C>T (p.Pro1255Leu)
|
|
|
NM_173630.4(RTTN):c.376T>A (p.Ser126Thr)
|
rs3911730
|
|
NM_173630.4(RTTN):c.3777C>G (p.Gly1259=)
|
|
|
NM_173630.4(RTTN):c.3783G>T (p.Pro1261=)
|
|
|
NM_173630.4(RTTN):c.3786C>A (p.Ser1262=)
|
|
|
NM_173630.4(RTTN):c.3793C>T (p.Arg1265Trp)
|
|
|
NM_173630.4(RTTN):c.3795G>A (p.Arg1265=)
|
|
|
NM_173630.4(RTTN):c.3807G>A (p.Gly1269=)
|
|
|
NM_173630.4(RTTN):c.3808A>G (p.Met1270Val)
|
|
|
NM_173630.4(RTTN):c.3824C>G (p.Ala1275Gly)
|
rs368042408
|
|
NM_173630.4(RTTN):c.3830C>T (p.Pro1277Leu)
|
|
|
NM_173630.4(RTTN):c.3845A>G (p.His1282Arg)
|
|
|
NM_173630.4(RTTN):c.3849T>C (p.Ser1283=)
|
|
|
NM_173630.4(RTTN):c.3850C>A (p.Pro1284Thr)
|
rs377399910
|
|
NM_173630.4(RTTN):c.3855C>T (p.Leu1285=)
|
|
|
NM_173630.4(RTTN):c.3861G>A (p.Lys1287=)
|
|
|
NM_173630.4(RTTN):c.3863C>T (p.Pro1288Leu)
|
rs554362605
|
|
NM_173630.4(RTTN):c.3867A>G (p.Leu1289=)
|
|
|
NM_173630.4(RTTN):c.3871A>T (p.Ile1291Phe)
|
|
|
NM_173630.4(RTTN):c.3873C>G (p.Ile1291Met)
|
rs1555733799
|
|
NM_173630.4(RTTN):c.3897C>T (p.Leu1299=)
|
|
|
NM_173630.4(RTTN):c.3903+18A>G
|
|
|
NM_173630.4(RTTN):c.3903+4A>C
|
|
|
NM_173630.4(RTTN):c.3927G>A (p.Glu1309=)
|
|
|
NM_173630.4(RTTN):c.3928C>T (p.Arg1310Cys)
|
|
|
NM_173630.4(RTTN):c.3929G>T (p.Arg1310Leu)
|
|
|
NM_173630.4(RTTN):c.3943_3946del (p.Met1315fs)
|
rs1195644432
|
|
NM_173630.4(RTTN):c.395C>T (p.Thr132Ile)
|
|
|
NM_173630.4(RTTN):c.397+7C>T
|
rs556099878
|
|
NM_173630.4(RTTN):c.398-1G>T
|
|
|
NM_173630.4(RTTN):c.398-20A>G
|
|
|
NM_173630.4(RTTN):c.3987C>T (p.Cys1329=)
|
|
|
NM_173630.4(RTTN):c.398A>T (p.Glu133Val)
|
|
|
NM_173630.4(RTTN):c.399A>G (p.Glu133=)
|
|
|
NM_173630.4(RTTN):c.39G>T (p.Gln13His)
|
rs1441727786
|
|
NM_173630.4(RTTN):c.4002C>G (p.Ser1334=)
|
|
|
NM_173630.4(RTTN):c.4003C>T (p.His1335Tyr)
|
|
|
NM_173630.4(RTTN):c.4008G>A (p.Glu1336=)
|
|
|
NM_173630.4(RTTN):c.4014G>A (p.Met1338Ile)
|
|
|
NM_173630.4(RTTN):c.4032+5G>A
|
|
|
NM_173630.4(RTTN):c.4032+7G>A
|
|
|
NM_173630.4(RTTN):c.4032+8C>T
|
|
|
NM_173630.4(RTTN):c.4033-158_4033-157del
|
rs139499965
|
|
NM_173630.4(RTTN):c.4033-93G>T
|
rs4891394
|
|
NM_173630.4(RTTN):c.4064G>A (p.Gly1355Asp)
|
|
|
NM_173630.4(RTTN):c.4066A>G (p.Ser1356Gly)
|
rs2058867155
|
|
NM_173630.4(RTTN):c.4068T>C (p.Ser1356=)
|
|
|
NM_173630.4(RTTN):c.4081C>T (p.His1361Tyr)
|
|
|
NM_173630.4(RTTN):c.4082A>G (p.His1361Arg)
|
rs1385408892
|
|
NM_173630.4(RTTN):c.410A>G (p.Asn137Ser)
|
|
|
NM_173630.4(RTTN):c.4129G>C (p.Asp1377His)
|
|
|
NM_173630.4(RTTN):c.412C>A (p.Pro138Thr)
|
|
|
NM_173630.4(RTTN):c.4132C>A (p.Arg1378=)
|
|
|
NM_173630.4(RTTN):c.4133G>A (p.Arg1378Gln)
|
|
|
NM_173630.4(RTTN):c.4143+12G>C
|
|
|
NM_173630.4(RTTN):c.4143+17A>G
|
|
|
NM_173630.4(RTTN):c.4158A>G (p.Ser1386=)
|
|
|
NM_173630.4(RTTN):c.4158A>T (p.Ser1386=)
|
|
|
NM_173630.4(RTTN):c.4162G>A (p.Gly1388Arg)
|
|
|
NM_173630.4(RTTN):c.4182C>T (p.Thr1394=)
|
rs1229299806
|
|
NM_173630.4(RTTN):c.4190A>C (p.Glu1397Ala)
|
|
|
NM_173630.4(RTTN):c.4203G>T (p.Val1401=)
|
|
|
NM_173630.4(RTTN):c.4207T>C (p.Leu1403=)
|
rs1599468381
|
|
NM_173630.4(RTTN):c.4225A>C (p.Asn1409His)
|
|
|
NM_173630.4(RTTN):c.4233C>T (p.Ser1411=)
|
rs768570102
|
|
NM_173630.4(RTTN):c.424A>G (p.Thr142Ala)
|
rs1180345951
|
|
NM_173630.4(RTTN):c.4269G>A (p.Leu1423=)
|
|
|
NM_173630.4(RTTN):c.4272C>T (p.Asp1424=)
|
|
|
NM_173630.4(RTTN):c.4275G>C (p.Gln1425His)
|
|
|
NM_173630.4(RTTN):c.4284T>C (p.Cys1428=)
|
|
|
NM_173630.4(RTTN):c.4294C>T (p.Arg1432Cys)
|
|
|
NM_173630.4(RTTN):c.4295G>A (p.Arg1432His)
|
rs1465962355
|
|
NM_173630.4(RTTN):c.4302+10T>C
|
rs2145198501
|
|
NM_173630.4(RTTN):c.4302+20T>A
|
|
|
NM_173630.4(RTTN):c.4302+3A>G
|
|
|
NM_173630.4(RTTN):c.4302+9G>T
|
|
|
NM_173630.4(RTTN):c.4303-21_4303-11del
|
rs531741265
|
|
NM_173630.4(RTTN):c.4303-22_4303-11del
|
rs531741265
|
|
NM_173630.4(RTTN):c.4303-24_4303-11del
|
rs531741265
|
|
NM_173630.4(RTTN):c.4303-25_4303-11del
|
rs531741265
|
|
NM_173630.4(RTTN):c.4303-26_4303-11del
|
rs531741265
|
|
NM_173630.4(RTTN):c.4303-27_4303-11del
|
rs531741265
|
|
NM_173630.4(RTTN):c.4303-28_4303-11del
|
rs531741265
|
|
NM_173630.4(RTTN):c.4303-3C>A
|
|
|
NM_173630.4(RTTN):c.4303-9C>A
|
rs1599460109
|
|
NM_173630.4(RTTN):c.433T>A (p.Phe145Ile)
|
|
|
NM_173630.4(RTTN):c.436C>T (p.Pro146Ser)
|
|
|
NM_173630.4(RTTN):c.4374G>A (p.Gln1458=)
|
rs1459805081
|
|
NM_173630.4(RTTN):c.4375-15C>T
|
|
|
NM_173630.4(RTTN):c.4375-24C>T
|
rs285228
|
|
NM_173630.4(RTTN):c.4375-3963_4564+444del
|
|
|
NM_173630.4(RTTN):c.4376G>A (p.Gly1459Asp)
|
|
|
NM_173630.4(RTTN):c.4389T>C (p.His1463=)
|
|
|
NM_173630.4(RTTN):c.4407A>G (p.Leu1469=)
|
|
|
NM_173630.4(RTTN):c.4425_4428dup (p.Leu1477fs)
|
|
|
NM_173630.4(RTTN):c.4438C>T (p.Leu1480Phe)
|
rs773407722
|
|
NM_173630.4(RTTN):c.4445A>G (p.Tyr1482Cys)
|
rs372019678
|
|
NM_173630.4(RTTN):c.4454A>G (p.His1485Arg)
|
|
|
NM_173630.4(RTTN):c.4474C>T (p.Gln1492Ter)
|
rs1555717153
|
|
NM_173630.4(RTTN):c.4513G>C (p.Asp1505His)
|
|
|
NM_173630.4(RTTN):c.4516T>G (p.Leu1506Val)
|
|
|
NM_173630.4(RTTN):c.4546G>A (p.Glu1516Lys)
|
|
|
NM_173630.4(RTTN):c.4548A>G (p.Glu1516=)
|
|
|
NM_173630.4(RTTN):c.455T>G (p.Phe152Cys)
|
|
|
NM_173630.4(RTTN):c.4561A>T (p.Asn1521Tyr)
|
rs2145070822
|
|
NM_173630.4(RTTN):c.4564+142A>G
|
rs11665578
|
|
NM_173630.4(RTTN):c.4564+5G>T
|
rs1020739065
|
|
NM_173630.4(RTTN):c.4565-11C>T
|
|
|
NM_173630.4(RTTN):c.4565-125C>G
|
rs73964495
|
|
NM_173630.4(RTTN):c.4565-148del
|
rs879380082
|
|
NM_173630.4(RTTN):c.4565-18A>G
|
|
|
NM_173630.4(RTTN):c.4565-19A>G
|
|
|
NM_173630.4(RTTN):c.4565-6_4565-4del
|
rs775033795
|
|
NM_173630.4(RTTN):c.4581C>G (p.Phe1527Leu)
|
|
|
NM_173630.4(RTTN):c.4582A>C (p.Lys1528Gln)
|
|
|
NM_173630.4(RTTN):c.458A>G (p.Gln153Arg)
|
|
|
NM_173630.4(RTTN):c.45C>G (p.Ala15=)
|
|
|
NM_173630.4(RTTN):c.4619G>A (p.Arg1540Gln)
|
|
|
NM_173630.4(RTTN):c.4633C>G (p.Leu1545Val)
|
|
|
NM_173630.4(RTTN):c.4635C>T (p.Leu1545=)
|
rs2058361915
|
|
NM_173630.4(RTTN):c.4638C>G (p.Ser1546=)
|
|
|
NM_173630.4(RTTN):c.4652C>A (p.Thr1551Lys)
|
rs200548446
|
|
NM_173630.4(RTTN):c.4652C>T (p.Thr1551Met)
|
rs200548446
|
|
NM_173630.4(RTTN):c.4654-7T>C
|
|
|
NM_173630.4(RTTN):c.4661C>T (p.Pro1554Leu)
|
|
|
NM_173630.4(RTTN):c.4666T>C (p.Leu1556=)
|
|
|
NM_173630.4(RTTN):c.4698G>A (p.Gln1566=)
|
|
|
NM_173630.4(RTTN):c.4702A>G (p.Thr1568Ala)
|
|
|
NM_173630.4(RTTN):c.4705A>G (p.Thr1569Ala)
|
|
|
NM_173630.4(RTTN):c.4733A>G (p.Gln1578Arg)
|
|
|
NM_173630.4(RTTN):c.4737del (p.Phe1579fs)
|
|
|
NM_173630.4(RTTN):c.473C>T (p.Pro158Leu)
|
|
|
NM_173630.4(RTTN):c.4746A>G (p.Gln1582=)
|
|
|
NM_173630.4(RTTN):c.4747+18A>G
|
|
|
NM_173630.4(RTTN):c.4747+18A>T
|
rs1368313103
|
|
NM_173630.4(RTTN):c.4751A>G (p.His1584Arg)
|
|
|
NM_173630.4(RTTN):c.4759A>C (p.Ser1587Arg)
|
rs2144895777
|
|
NM_173630.4(RTTN):c.4761T>C (p.Ser1587=)
|
|
|
NM_173630.4(RTTN):c.4763C>T (p.Thr1588Ile)
|
|
|
NM_173630.4(RTTN):c.4770A>G (p.Pro1590=)
|
|
|
NM_173630.4(RTTN):c.478C>T (p.Arg160Ter)
|
|
|
NM_173630.4(RTTN):c.479G>A (p.Arg160Gln)
|
|
|
NM_173630.4(RTTN):c.4818T>C (p.Cys1606=)
|
|
|
NM_173630.4(RTTN):c.481C>T (p.Pro161Ser)
|
|
|
NM_173630.4(RTTN):c.4856G>A (p.Ser1619Asn)
|
rs1599327363
|
|
NM_173630.4(RTTN):c.487+13C>G
|
|
|
NM_173630.4(RTTN):c.487+13C>T
|
rs200125957
|
|
NM_173630.4(RTTN):c.487+260_487+261dup
|
rs34966295
|
|
NM_173630.4(RTTN):c.487+260dup
|
rs34966295
|
|
NM_173630.4(RTTN):c.487+286del
|
rs34966295
|
|
NM_173630.4(RTTN):c.487+2T>G
|
rs2061961914
|
|
NM_173630.4(RTTN):c.487+4T>A
|
|
|
NM_173630.4(RTTN):c.487+7A>G
|
|
|
NM_173630.4(RTTN):c.488-13C>T
|
|
|
NM_173630.4(RTTN):c.488-16G>A
|
|
|
NM_173630.4(RTTN):c.488-4A>G
|
|
|
NM_173630.4(RTTN):c.488-5G>A
|
|
|
NM_173630.4(RTTN):c.4880T>G (p.Ile1627Ser)
|
rs778267549
|
|
NM_173630.4(RTTN):c.4884T>C (p.Ala1628=)
|
rs886042166
|
|
NM_173630.4(RTTN):c.4903G>C (p.Ala1635Pro)
|
rs2144893429
|
|
NM_173630.4(RTTN):c.4906T>C (p.Phe1636Leu)
|
|
|
NM_173630.4(RTTN):c.4910G>A (p.Arg1637Gln)
|
|
|
NM_173630.4(RTTN):c.4917T>C (p.Ala1639=)
|
|
|
NM_173630.4(RTTN):c.4923C>G (p.Leu1641=)
|
|
|
NM_173630.4(RTTN):c.4932_4934del (p.Leu1645del)
|
rs767841109
|
|
NM_173630.4(RTTN):c.4940+10A>G
|
|
|
NM_173630.4(RTTN):c.4940+111T>C
|
rs11876398
|
|
NM_173630.4(RTTN):c.4940+17C>T
|
|
|
NM_173630.4(RTTN):c.4941-11G>A
|
|
|
NM_173630.4(RTTN):c.4941-7G>A
|
|
|
NM_173630.4(RTTN):c.4941-8C>T
|
|
|
NM_173630.4(RTTN):c.4941-9T>C
|
|
|
NM_173630.4(RTTN):c.4954A>G (p.Thr1652Ala)
|
|
|
NM_173630.4(RTTN):c.4957C>T (p.Leu1653Phe)
|
|
|
NM_173630.4(RTTN):c.4960A>G (p.Ile1654Val)
|
|
|
NM_173630.4(RTTN):c.4966dup (p.Thr1656fs)
|
|
|
NM_173630.4(RTTN):c.4975C>T (p.Gln1659Ter)
|
rs771001575
|
|
NM_173630.4(RTTN):c.4984del (p.Arg1662fs)
|
|
|
NM_173630.4(RTTN):c.4989C>T (p.Ala1663=)
|
|
|
NM_173630.4(RTTN):c.499G>A (p.Val167Met)
|
rs774390301
|
|
NM_173630.4(RTTN):c.5003C>T (p.Ser1668Leu)
|
|
|
NM_173630.4(RTTN):c.5031+138C>G
|
rs17805883
|
|
NM_173630.4(RTTN):c.5032-20C>A
|
rs200438852
|
|
NM_173630.4(RTTN):c.5049A>T (p.Glu1683Asp)
|
rs1599300112
|
|
NM_173630.4(RTTN):c.5070G>A (p.Arg1690=)
|
rs757912747
|
|
NM_173630.4(RTTN):c.5092G>T (p.Val1698Leu)
|
|
|
NM_173630.4(RTTN):c.5099C>T (p.Pro1700Leu)
|
|
|
NM_173630.4(RTTN):c.5131C>G (p.Pro1711Ala)
|
rs2144837288
|
|
NM_173630.4(RTTN):c.5165T>C (p.Ile1722Thr)
|
|
|
NM_173630.4(RTTN):c.5185+1G>A
|
rs1555707336
|
|
NM_173630.4(RTTN):c.5186-1G>C
|
|
|
NM_173630.4(RTTN):c.5186-1_5188del
|
|
|
NM_173630.4(RTTN):c.5186-4A>G
|
rs28599773
|
|
NM_173630.4(RTTN):c.5186-4A>T
|
|
|
NM_173630.4(RTTN):c.5186-53G>A
|
rs7238844
|
|
NM_173630.4(RTTN):c.5186-5del
|
|
|
NM_173630.4(RTTN):c.5201C>G (p.Ser1734Ter)
|
|
|
NM_173630.4(RTTN):c.5209T>C (p.Tyr1737His)
|
|
|
NM_173630.4(RTTN):c.5255G>A (p.Arg1752Lys)
|
|
|
NM_173630.4(RTTN):c.525T>G (p.Phe175Leu)
|
|
|
NM_173630.4(RTTN):c.5269A>G (p.Ile1757Val)
|
|
|
NM_173630.4(RTTN):c.5272A>C (p.Thr1758Pro)
|
|
|
NM_173630.4(RTTN):c.5279C>T (p.Pro1760Leu)
|
|
|
NM_173630.4(RTTN):c.5293G>A (p.Ala1765Thr)
|
|
|
NM_173630.4(RTTN):c.5304G>A (p.Lys1768=)
|
|
|
NM_173630.4(RTTN):c.5305C>A (p.His1769Asn)
|
|
|
NM_173630.4(RTTN):c.5315C>G (p.Ala1772Gly)
|
rs200631915
|
|
NM_173630.4(RTTN):c.5315C>T (p.Ala1772Val)
|
rs200631915
|
|
NM_173630.4(RTTN):c.5316G>A (p.Ala1772=)
|
|
|
NM_173630.4(RTTN):c.5318C>T (p.Ala1773Val)
|
|
|
NM_173630.4(RTTN):c.5319G>C (p.Ala1773=)
|
rs35439940
|
|
NM_173630.4(RTTN):c.5323+10T>A
|
|
|
NM_173630.4(RTTN):c.5323+2T>C
|
|
|
NM_173630.4(RTTN):c.5323+7_5323+9del
|
rs770541694
|
|
NM_173630.4(RTTN):c.5542-9del
|
rs560969810
|
|
NM_173630.4(RTTN):c.5546A>G (p.Tyr1849Cys)
|
|
|
NM_173630.4(RTTN):c.5553G>T (p.Gly1851=)
|
|
|
NM_173630.4(RTTN):c.5561C>T (p.Ser1854Phe)
|
|
|
NM_173630.4(RTTN):c.5572C>G (p.Leu1858Val)
|
rs777149582
|
|
NM_173630.4(RTTN):c.5573T>A (p.Leu1858Gln)
|
rs1294570118
|
|
NM_173630.4(RTTN):c.5580A>G (p.Arg1860=)
|
|
|
NM_173630.4(RTTN):c.5582T>G (p.Val1861Gly)
|
|
|
NM_173630.4(RTTN):c.5583A>T (p.Val1861=)
|
|
|
NM_173630.4(RTTN):c.5592T>C (p.Asn1864=)
|
|
|
NM_173630.4(RTTN):c.5604A>G (p.Ser1868=)
|
|
|
NM_173630.4(RTTN):c.5638G>A (p.Ala1880Thr)
|
|
|
NM_173630.4(RTTN):c.563T>C (p.Leu188Pro)
|
rs2146165717
|
|
NM_173630.4(RTTN):c.5643G>C (p.Leu1881Phe)
|
rs2145592855
|
|
NM_173630.4(RTTN):c.5648-5T>A
|
rs1256028809
|
|
NM_173630.4(RTTN):c.5649C>A (p.Ala1883=)
|
|
|
NM_173630.4(RTTN):c.5656A>G (p.Ile1886Val)
|
|
|
NM_173630.4(RTTN):c.5668A>G (p.Met1890Val)
|
|
|
NM_173630.4(RTTN):c.5720C>T (p.Pro1907Leu)
|
|
|
NM_173630.4(RTTN):c.5724G>A (p.Gly1908=)
|
|
|
NM_173630.4(RTTN):c.5734T>C (p.Leu1912=)
|
|
|
NM_173630.4(RTTN):c.5743A>C (p.Lys1915Gln)
|
rs2145587107
|
|
NM_173630.4(RTTN):c.5745+19T>C
|
|
|
NM_173630.4(RTTN):c.5745+19T>G
|
|
|
NM_173630.4(RTTN):c.5745+205A>G
|
rs142318554
|
|
NM_173630.4(RTTN):c.5745+27TA[2]
|
rs200091480
|
|
NM_173630.4(RTTN):c.5746-4A>C
|
|
|
NM_173630.4(RTTN):c.5747del (p.Glu1916fs)
|
|
|
NM_173630.4(RTTN):c.5761_5775del (p.Lys1921_Ile1925del)
|
rs757580606
|
|
NM_173630.4(RTTN):c.5763A>G (p.Lys1921=)
|
|
|
NM_173630.4(RTTN):c.578+13A>G
|
|
|
NM_173630.4(RTTN):c.578+15G>T
|
|
|
NM_173630.4(RTTN):c.578+4C>T
|
|
|
NM_173630.4(RTTN):c.578+5G>A
|
|
|
NM_173630.4(RTTN):c.579-13C>T
|
|
|
NM_173630.4(RTTN):c.5823+13A>G
|
rs2145578397
|
|
NM_173630.4(RTTN):c.5823+204C>T
|
rs73970821
|
|
NM_173630.4(RTTN):c.5823+5_5823+20del
|
rs1192455464
|
|
NM_173630.4(RTTN):c.5823+86del
|
rs137968383
|
|
NM_173630.4(RTTN):c.5823A>G (p.Lys1941=)
|
|
|
NM_173630.4(RTTN):c.5824-9C>T
|
|
|
NM_173630.4(RTTN):c.5845C>A (p.Leu1949Ile)
|
|
|
NM_173630.4(RTTN):c.5850C>G (p.Val1950=)
|
|
|
NM_173630.4(RTTN):c.5862C>T (p.His1954=)
|
|
|
NM_173630.4(RTTN):c.5877G>A (p.Trp1959Ter)
|
rs373987090
|
|
NM_173630.4(RTTN):c.5890G>A (p.Asp1964Asn)
|
rs2056806590
|
|
NM_173630.4(RTTN):c.5896T>C (p.Leu1966=)
|
|
|
NM_173630.4(RTTN):c.5900T>G (p.Met1967Arg)
|
|
|
NM_173630.4(RTTN):c.5909C>A (p.Ser1970Tyr)
|
|
|
NM_173630.4(RTTN):c.5917C>T (p.Leu1973Phe)
|
|
|
NM_173630.4(RTTN):c.5930A>G (p.Tyr1977Cys)
|
rs2056805055
|
|
NM_173630.4(RTTN):c.5933C>T (p.Thr1978Ile)
|
|
|
NM_173630.4(RTTN):c.5936C>T (p.Ala1979Val)
|
|
|
NM_173630.4(RTTN):c.5938A>G (p.Asn1980Asp)
|
|
|
NM_173630.4(RTTN):c.5947A>G (p.Asn1983Asp)
|
|
|
NM_173630.4(RTTN):c.5950+12C>T
|
|
|
NM_173630.4(RTTN):c.5950+20C>T
|
|
|
NM_173630.4(RTTN):c.5950+210C>T
|
rs73970817
|
|
NM_173630.4(RTTN):c.5951-47_5951-14dup
|
|
|
NM_173630.4(RTTN):c.5971T>G (p.Ser1991Ala)
|
|
|
NM_173630.4(RTTN):c.5976T>C (p.Ser1992=)
|
rs2145523586
|
|
NM_173630.4(RTTN):c.597C>T (p.Asn199=)
|
|
|
NM_173630.4(RTTN):c.5998G>C (p.Ala2000Pro)
|
|
|
NM_173630.4(RTTN):c.5T>G (p.Val2Gly)
|
rs747799533
|
|
NM_173630.4(RTTN):c.6005A>G (p.His2002Arg)
|
|
|
NM_173630.4(RTTN):c.6016G>A (p.Val2006Met)
|
|
|
NM_173630.4(RTTN):c.601A>C (p.Thr201Pro)
|
|
|
NM_173630.4(RTTN):c.6023A>G (p.Asn2008Ser)
|
|
|
NM_173630.4(RTTN):c.602C>T (p.Thr201Ile)
|
|
|
NM_173630.4(RTTN):c.6042C>A (p.Ile2014=)
|
|
|
NM_173630.4(RTTN):c.6051G>A (p.Leu2017=)
|
|
|
NM_173630.4(RTTN):c.6067C>G (p.Leu2023Val)
|
|
|
NM_173630.4(RTTN):c.6080C>G (p.Thr2027Arg)
|
rs199546509
|
|
NM_173630.4(RTTN):c.6115C>T (p.Leu2039=)
|
|
|
NM_173630.4(RTTN):c.6125C>T (p.Ser2042Leu)
|
|
|
NM_173630.4(RTTN):c.6134G>A (p.Cys2045Tyr)
|
|
|
NM_173630.4(RTTN):c.6149A>G (p.Gln2050Arg)
|
rs2145521626
|
|
NM_173630.4(RTTN):c.6153+11A>G
|
|
|
NM_173630.4(RTTN):c.6153+20A>G
|
|
|
NM_173630.4(RTTN):c.6153+4C>T
|
|
|
NM_173630.4(RTTN):c.6154-16_6154-13del
|
rs765143937
|
|
NM_173630.4(RTTN):c.6154-5C>T
|
|
|
NM_173630.4(RTTN):c.6158A>G (p.Asn2053Ser)
|
|
|
NM_173630.4(RTTN):c.6179C>T (p.Ser2060Phe)
|
|
|
NM_173630.4(RTTN):c.6187T>C (p.Leu2063=)
|
rs748843954
|
|
NM_173630.4(RTTN):c.618C>T (p.Thr206=)
|
|
|
NM_173630.4(RTTN):c.6199G>A (p.Gly2067Arg)
|
|
|
NM_173630.4(RTTN):c.61G>A (p.Ala21Thr)
|
rs368406992
|
|
NM_173630.4(RTTN):c.6209A>C (p.His2070Pro)
|
|
|
NM_173630.4(RTTN):c.6209A>T (p.His2070Leu)
|
rs764347798
|
|
NM_173630.4(RTTN):c.6210T>C (p.His2070=)
|
|
|
NM_173630.4(RTTN):c.6226A>T (p.Ile2076Phe)
|
rs554677788
|
|
NM_173630.4(RTTN):c.624A>G (p.Glu208=)
|
|
|
NM_173630.4(RTTN):c.6268G>C (p.Asp2090His)
|
|
|
NM_173630.4(RTTN):c.6276A>G (p.Gln2092=)
|
|
|
NM_173630.4(RTTN):c.6290G>C (p.Arg2097Thr)
|
|
|
NM_173630.4(RTTN):c.6292C>T (p.Leu2098Phe)
|
rs1349092201
|
|
NM_173630.4(RTTN):c.62C>T (p.Ala21Val)
|
rs2146209019
|
|
NM_173630.4(RTTN):c.6312A>T (p.Leu2104Phe)
|
|
|
NM_173630.4(RTTN):c.6334A>G (p.Lys2112Glu)
|
|
|
NM_173630.4(RTTN):c.6339C>T (p.His2113=)
|
rs1201086381
|
|
NM_173630.4(RTTN):c.6358C>T (p.Pro2120Ser)
|
|
|
NM_173630.4(RTTN):c.6359C>T (p.Pro2120Leu)
|
|
|
NM_173630.4(RTTN):c.636T>C (p.Asp212=)
|
|
|
NM_173630.4(RTTN):c.6398del (p.Asn2133fs)
|
rs2145501058
|
|
NM_173630.4(RTTN):c.6409A>T (p.Ile2137Phe)
|
rs794727682
|
|
NM_173630.4(RTTN):c.6412C>A (p.Leu2138Met)
|
|
|
NM_173630.4(RTTN):c.6413T>A (p.Leu2138Gln)
|
rs2056572982
|
|
NM_173630.4(RTTN):c.6415G>T (p.Ala2139Ser)
|
rs2145500874
|
|
NM_173630.4(RTTN):c.6417T>A (p.Ala2139=)
|
rs141934309
|
|
NM_173630.4(RTTN):c.6417T>C (p.Ala2139=)
|
rs141934309
|
|
NM_173630.4(RTTN):c.6421+16C>T
|
|
|
NM_173630.4(RTTN):c.6421+9T>C
|
|
|
NM_173630.4(RTTN):c.6422-16A>G
|
rs373120534
|
|
NM_173630.4(RTTN):c.6422-207C>T
|
rs17081967
|
|
NM_173630.4(RTTN):c.6448T>A (p.Cys2150Ser)
|
|
|
NM_173630.4(RTTN):c.6449G>T (p.Cys2150Phe)
|
|
|
NM_173630.4(RTTN):c.6458G>A (p.Ser2153Asn)
|
|
|
NM_173630.4(RTTN):c.6465T>A (p.Asn2155Lys)
|
|
|
NM_173630.4(RTTN):c.6471T>C (p.Asn2157=)
|
|
|
NM_173630.4(RTTN):c.6479G>A (p.Arg2160Lys)
|
|
|
NM_173630.4(RTTN):c.6488C>G (p.Ala2163Gly)
|
|
|
NM_173630.4(RTTN):c.6518A>G (p.Tyr2173Cys)
|
|
|
NM_173630.4(RTTN):c.6525+10A>T
|
|
|
NM_173630.4(RTTN):c.6525+18T>C
|
|
|
NM_173630.4(RTTN):c.6526-10A>T
|
|
|
NM_173630.4(RTTN):c.6526-14A>G
|
|
|
NM_173630.4(RTTN):c.6526-18A>C
|
|
|
NM_173630.4(RTTN):c.6526-8T>C
|
|
|
NM_173630.4(RTTN):c.6567G>A (p.Val2189=)
|
|
|
NM_173630.4(RTTN):c.6595+165_6595+168del
|
rs545009598
|
|
NM_173630.4(RTTN):c.6596-16T>C
|
|
|
NM_173630.4(RTTN):c.6596-278A>G
|
rs145054997
|
|
NM_173630.4(RTTN):c.6596-7A>G
|
|
|
NM_173630.4(RTTN):c.6596C>T (p.Thr2199Ile)
|
rs750094600
|
|
NM_173630.4(RTTN):c.6620C>G (p.Pro2207Arg)
|
|
|
NM_173630.4(RTTN):c.6624A>G (p.Leu2208=)
|
|
|
NM_173630.4(RTTN):c.6627T>C (p.Asn2209=)
|
|
|
NM_173630.4(RTTN):c.6629C>T (p.Ala2210Val)
|
|
|
NM_173630.4(RTTN):c.6630C>G (p.Ala2210=)
|
|
|
NM_173630.4(RTTN):c.6638T>C (p.Leu2213Ser)
|
rs2145420319
|
|
NM_173630.4(RTTN):c.6642A>G (p.Lys2214=)
|
rs1555689767
|
|
NM_173630.4(RTTN):c.6658G>C (p.Val2220Leu)
|
|
|
NM_173630.4(RTTN):c.666T>C (p.Ile222=)
|
|
|
NM_173630.4(RTTN):c.6679T>A (p.Ter2227Arg)
|
|
|
NM_173630.4(RTTN):c.678G>A (p.Arg226=)
|
|
|
NM_173630.4(RTTN):c.693+10C>T
|
|
|
NM_173630.4(RTTN):c.693+17A>G
|
|
|
NM_173630.4(RTTN):c.693+1G>T
|
|
|
NM_173630.4(RTTN):c.693+330C>G
|
rs79226724
|
|
NM_173630.4(RTTN):c.693+38G>C
|
rs116130278
|
|
NM_173630.4(RTTN):c.694-11C>G
|
|
|
NM_173630.4(RTTN):c.694-74T>G
|
rs79879463
|
|
NM_173630.4(RTTN):c.696C>G (p.Ser232Arg)
|
|
|
NM_173630.4(RTTN):c.696C>T (p.Ser232=)
|
|
|
NM_173630.4(RTTN):c.6C>T (p.Val2=)
|
|
|
NM_173630.4(RTTN):c.703T>C (p.Ser235Pro)
|
|
|
NM_173630.4(RTTN):c.705T>C (p.Ser235=)
|
|
|
NM_173630.4(RTTN):c.725_726insGGG (p.Gly242_Asp243insGly)
|
|
|
NM_173630.4(RTTN):c.725_727dup (p.Gly242dup)
|
rs58913700
|
|
NM_173630.4(RTTN):c.740G>A (p.Arg247His)
|
rs539725498
|
|
NM_173630.4(RTTN):c.756G>A (p.Ser252=)
|
|
|
NM_173630.4(RTTN):c.771G>T (p.Gln257His)
|
|
|
NM_173630.4(RTTN):c.781A>G (p.Met261Val)
|
|
|
NM_173630.4(RTTN):c.78C>G (p.Leu26=)
|
|
|
NM_173630.4(RTTN):c.78C>T (p.Leu26=)
|
|
|
NM_173630.4(RTTN):c.803A>G (p.Asn268Ser)
|
|
|
NM_173630.4(RTTN):c.805T>G (p.Phe269Val)
|
rs141156594
|
|
NM_173630.4(RTTN):c.808C>T (p.His270Tyr)
|
|
|
NM_173630.4(RTTN):c.81C>T (p.Cys27=)
|
rs2146208815
|
|
NM_173630.4(RTTN):c.841+19T>G
|
rs189347156
|
|
NM_173630.4(RTTN):c.841+1G>A
|
rs2146138982
|
|
NM_173630.4(RTTN):c.841+204del
|
rs34150741
|
|
NM_173630.4(RTTN):c.841+4T>G
|
|
|
NM_173630.4(RTTN):c.841+6T>G
|
|
|
NM_173630.4(RTTN):c.842-12_842-11del
|
|
|
NM_173630.4(RTTN):c.842A>G (p.Asp281Gly)
|
|
|
NM_173630.4(RTTN):c.852C>T (p.Ser284=)
|
|
|
NM_173630.4(RTTN):c.898C>T (p.His300Tyr)
|
|
|
NM_173630.4(RTTN):c.934C>T (p.Arg312Trp)
|
|
|
NM_173630.4(RTTN):c.954C>T (p.Arg318=)
|
|
|
NM_173630.4(RTTN):c.964C>T (p.Arg322Ter)
|
|
|
NM_173630.4(RTTN):c.965G>A (p.Arg322Gln)
|
|
|
NM_173630.4(RTTN):c.978T>C (p.Asp326=)
|
rs771371692
|
|
NM_173630.4(RTTN):c.981C>T (p.Gly327=)
|
|
|