NM_133459.4(CCBE1):c.401-29T>C
|
rs4940876
|
0.95824
|
NM_133459.4(CCBE1):c.*3805T>C
|
rs4940462
|
0.82960
|
NM_133459.4(CCBE1):c.*4749C>T
|
rs1048006
|
0.82939
|
NM_133459.4(CCBE1):c.*4398C>A
|
rs6567083
|
0.82900
|
NM_133459.4(CCBE1):c.952-260T>C
|
rs4940874
|
0.82518
|
NM_133459.4(CCBE1):c.*2372C>T
|
rs9959080
|
0.82464
|
NM_133459.4(CCBE1):c.*2242T>C
|
rs9948686
|
0.82319
|
NM_133459.4(CCBE1):c.*4796G>A
|
rs1048008
|
0.81742
|
NM_133459.4(CCBE1):c.*4945C>A
|
rs1129748
|
0.78704
|
NM_133459.4(CCBE1):c.265+204C>T
|
rs1789475
|
0.66570
|
NM_133459.4(CCBE1):c.265+67C>T
|
rs1663548
|
0.66558
|
NM_133459.4(CCBE1):c.265+28G>C
|
rs1790508
|
0.65649
|
NM_133459.4(CCBE1):c.553+249A>G
|
rs8082772
|
0.62894
|
NM_133459.4(CCBE1):c.775+12A>G
|
rs1893788
|
0.59779
|
NM_133459.4(CCBE1):c.*2361G>A
|
rs9959752
|
0.52467
|
NM_133459.4(CCBE1):c.951+314C>T
|
rs11152147
|
0.52070
|
NM_133459.4(CCBE1):c.266-30T>C
|
rs632899
|
0.44900
|
NM_133459.4(CCBE1):c.266-104C>T
|
rs650033
|
0.43621
|
NM_133459.4(CCBE1):c.266-63G>T
|
rs663452
|
0.42927
|
NM_133459.4(CCBE1):c.266-156C>T
|
rs643602
|
0.42908
|
NM_133459.4(CCBE1):c.132-148C>G
|
rs3114280
|
0.39576
|
NM_133459.4(CCBE1):c.*4504G>C
|
rs7230906
|
0.38762
|
NM_133459.4(CCBE1):c.*2730A>G
|
rs1975499
|
0.38748
|
NM_133459.4(CCBE1):c.776-164G>A
|
rs11152148
|
0.38292
|
NC_000018.10:g.59697734C>T
|
rs1791320
|
0.37370
|
NC_000018.10:g.59697596C>T
|
rs2195534
|
0.36168
|
NM_133459.4(CCBE1):c.401-174G>T
|
rs600795
|
0.33159
|
NM_133459.4(CCBE1):c.553+109A>T
|
rs8083041
|
0.32825
|
NM_133459.4(CCBE1):c.265+26C>A
|
rs1663549
|
0.28435
|
NM_133459.4(CCBE1):c.*814T>G
|
rs9954602
|
0.27783
|
NM_133459.4(CCBE1):c.655-155A>T
|
rs749999
|
0.27587
|
NM_133459.4(CCBE1):c.655-229T>C
|
rs750000
|
0.27585
|
NM_133459.4(CCBE1):c.775+171C>T
|
rs3809991
|
0.27434
|
NM_133459.4(CCBE1):c.401-225G>C
|
rs617924
|
0.24575
|
NM_133459.4(CCBE1):c.553+301A>T
|
rs8082747
|
0.24453
|
NM_133459.4(CCBE1):c.*3780A>T
|
rs12957684
|
0.23405
|
NM_133459.4(CCBE1):c.988-179C>T
|
rs7228077
|
0.19699
|
NM_133459.4(CCBE1):c.400+165A>G
|
rs895010
|
0.19617
|
NM_133459.4(CCBE1):c.*2020C>T
|
rs113599524
|
0.15943
|
NM_133459.4(CCBE1):c.655-197C>T
|
rs75346177
|
0.13679
|
NM_133459.4(CCBE1):c.654+214A>G
|
rs17697258
|
0.08798
|
NM_133459.4(CCBE1):c.213-209G>T
|
rs12457023
|
0.05204
|
NM_133459.4(CCBE1):c.*4788T>C
|
rs77728352
|
0.04498
|
NM_133459.4(CCBE1):c.212+233A>G
|
rs2288597
|
0.04244
|
NM_133459.4(CCBE1):c.132-232C>A
|
rs1864305
|
0.03623
|
NM_133459.4(CCBE1):c.*2951_*2952insC
|
rs33911880
|
0.02939
|
NM_133459.4(CCBE1):c.*3162T>C
|
rs78990130
|
0.02874
|
NM_133459.4(CCBE1):c.*2825A>G
|
rs116611266
|
0.02587
|
NM_133459.4(CCBE1):c.988-10A>G
|
rs115490148
|
0.02376
|
NM_133459.4(CCBE1):c.*2673G>A
|
rs115205666
|
0.02212
|
NM_133459.4(CCBE1):c.266-45C>T
|
rs79596673
|
0.02095
|
NM_133459.4(CCBE1):c.123C>A (p.Asp41Glu)
|
rs80008675
|
0.01868
|
NM_133459.4(CCBE1):c.*1040C>T
|
rs78905013
|
0.01557
|
NM_133459.4(CCBE1):c.*2758C>T
|
rs114107592
|
0.01425
|
NM_133459.4(CCBE1):c.*3036C>G
|
rs75031007
|
0.01254
|
NM_133459.4(CCBE1):c.837C>T (p.Pro279=)
|
rs61745250
|
0.01198
|
NM_133459.4(CCBE1):c.*1697G>C
|
rs59131196
|
0.01117
|
NM_133459.4(CCBE1):c.*2833C>A
|
rs73450357
|
0.01086
|
NM_133459.4(CCBE1):c.*14C>T
|
rs72958116
|
0.00900
|
NM_133459.4(CCBE1):c.*2978T>A
|
rs117999156
|
0.00814
|
NM_133459.4(CCBE1):c.*1992A>T
|
rs61687734
|
0.00581
|
NM_133459.4(CCBE1):c.*3533C>A
|
rs112059725
|
0.00563
|
NM_133459.4(CCBE1):c.*154G>A
|
rs73963210
|
0.00515
|
NM_133459.4(CCBE1):c.*2460T>C
|
rs76216795
|
0.00485
|
NM_133459.4(CCBE1):c.195G>A (p.Glu65=)
|
rs116673304
|
0.00475
|
NM_133459.4(CCBE1):c.*1969A>G
|
rs144921615
|
0.00467
|
NM_133459.4(CCBE1):c.*3777A>T
|
rs184237348
|
0.00413
|
NM_133459.4(CCBE1):c.*337T>G
|
rs80296667
|
0.00389
|
NM_133459.4(CCBE1):c.*1434C>G
|
rs144479124
|
0.00377
|
NM_133459.4(CCBE1):c.*2158C>T
|
rs376015917
|
0.00376
|
NM_133459.4(CCBE1):c.*3182T>G
|
rs8084216
|
0.00371
|
NM_133459.4(CCBE1):c.*4934G>T
|
rs145940035
|
0.00353
|
NM_133459.4(CCBE1):c.*378G>A
|
rs141921214
|
0.00289
|
NM_133459.4(CCBE1):c.*4173A>G
|
rs150040471
|
0.00289
|
NM_133459.4(CCBE1):c.*3140G>T
|
rs189149568
|
0.00249
|
NM_133459.4(CCBE1):c.*4498T>C
|
rs146222689
|
0.00247
|
NM_133459.4(CCBE1):c.*2178C>T
|
rs535062443
|
0.00239
|
NM_133459.4(CCBE1):c.*203A>G
|
rs529266103
|
0.00226
|
NM_133459.4(CCBE1):c.*3080A>G
|
rs147056520
|
0.00225
|
NM_133459.4(CCBE1):c.*2080C>T
|
rs181336531
|
0.00222
|
NM_133459.4(CCBE1):c.*2297_*2298insT
|
rs886054053
|
0.00211
|
NM_133459.4(CCBE1):c.*2728A>G
|
rs150355335
|
0.00163
|
NM_133459.4(CCBE1):c.*1463del
|
rs763605982
|
0.00156
|
NM_133459.4(CCBE1):c.*4799G>A
|
rs187448235
|
0.00137
|
NM_133459.4(CCBE1):c.*4846G>A
|
rs141622451
|
0.00130
|
NM_133459.4(CCBE1):c.1064A>C (p.Lys355Thr)
|
rs139059968
|
0.00127
|
NM_133459.4(CCBE1):c.*1021T>A
|
rs573115978
|
0.00113
|
NM_133459.4(CCBE1):c.431C>T (p.Thr144Met)
|
rs147974432
|
0.00096
|
NM_133459.4(CCBE1):c.*3931G>A
|
rs187148297
|
0.00091
|
NM_133459.4(CCBE1):c.553+17T>A
|
rs373086776
|
0.00087
|
NM_133459.4(CCBE1):c.499C>T (p.Arg167Trp)
|
rs116675104
|
0.00064
|
NM_133459.4(CCBE1):c.*3710A>G
|
rs371219962
|
0.00061
|
NM_133459.4(CCBE1):c.101C>A (p.Thr34Asn)
|
rs191999971
|
0.00058
|
NM_133459.4(CCBE1):c.*4773C>G
|
rs192810490
|
0.00057
|
NM_133459.4(CCBE1):c.-27G>T
|
rs767364494
|
0.00055
|
NM_133459.4(CCBE1):c.519A>G (p.Thr173=)
|
rs141327514
|
0.00055
|
NM_133459.4(CCBE1):c.354A>G (p.Arg118=)
|
rs116239086
|
0.00053
|
NM_133459.4(CCBE1):c.776-19A>T
|
rs374642289
|
0.00053
|
NM_133459.4(CCBE1):c.265+8A>C
|
rs181010692
|
0.00052
|
NM_133459.4(CCBE1):c.*942C>T
|
rs148435558
|
0.00051
|
NM_133459.4(CCBE1):c.380G>A (p.Arg127Gln)
|
rs141638717
|
0.00051
|
NM_133459.4(CCBE1):c.*3430T>C
|
rs1360147097
|
0.00044
|
NM_133459.4(CCBE1):c.*2903G>C
|
rs181044048
|
0.00039
|
NM_133459.4(CCBE1):c.869C>T (p.Pro290Leu)
|
rs147681552
|
0.00038
|
NM_133459.4(CCBE1):c.902G>A (p.Arg301Gln)
|
rs200772179
|
0.00038
|
NM_133459.4(CCBE1):c.*3893C>T
|
rs192002000
|
0.00036
|
NM_133459.4(CCBE1):c.*4818G>A
|
rs531452846
|
0.00036
|
NM_133459.4(CCBE1):c.557A>G (p.His186Arg)
|
rs115071386
|
0.00036
|
NM_133459.4(CCBE1):c.*2340T>C
|
rs528130337
|
0.00035
|
NM_133459.4(CCBE1):c.156C>T (p.Ile52=)
|
rs2288598
|
0.00035
|
NM_133459.4(CCBE1):c.*835T>A
|
rs542982078
|
0.00034
|
NM_133459.4(CCBE1):c.*836C>T
|
rs575906287
|
0.00034
|
NM_133459.4(CCBE1):c.*1347C>T
|
rs182559343
|
0.00032
|
NM_133459.4(CCBE1):c.*2373C>T
|
rs530647353
|
0.00031
|
NM_133459.4(CCBE1):c.212+16C>T
|
rs371303348
|
0.00028
|
NM_133459.4(CCBE1):c.*4715T>G
|
rs570883624
|
0.00025
|
NM_133459.4(CCBE1):c.*4940A>T
|
rs374031151
|
0.00025
|
NM_133459.4(CCBE1):c.966G>A (p.Ala322=)
|
rs144169027
|
0.00024
|
NM_133459.4(CCBE1):c.*20G>A
|
rs372843233
|
0.00021
|
NM_133459.4(CCBE1):c.*2299T>A
|
rs886054052
|
0.00021
|
NM_133459.4(CCBE1):c.654+10G>A
|
rs199573616
|
0.00020
|
NM_133459.4(CCBE1):c.810C>T (p.Pro270=)
|
rs151243930
|
0.00020
|
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys)
|
rs121908253
|
0.00019
|
NM_133459.4(CCBE1):c.*3862G>A
|
rs368332997
|
0.00016
|
NM_133459.4(CCBE1):c.*70A>G
|
rs771950874
|
0.00016
|
NM_133459.4(CCBE1):c.477C>T (p.Cys159=)
|
rs149268172
|
0.00016
|
NM_133459.4(CCBE1):c.259C>T (p.Pro87Ser)
|
rs148498685
|
0.00015
|
NM_133459.4(CCBE1):c.*4375T>C
|
rs776172092
|
0.00014
|
NM_133459.4(CCBE1):c.485G>A (p.Arg162Gln)
|
rs138986040
|
0.00013
|
NM_133459.4(CCBE1):c.843A>T (p.Pro281=)
|
rs191592668
|
0.00013
|
NM_133459.4(CCBE1):c.*1942T>C
|
rs138525348
|
0.00012
|
NM_133459.4(CCBE1):c.*3788T>A
|
rs886054042
|
0.00012
|
NM_133459.4(CCBE1):c.373C>T (p.Arg125Trp)
|
rs147208835
|
0.00012
|
NM_133459.4(CCBE1):c.586G>A (p.Gly196Arg)
|
rs189700794
|
0.00012
|
NM_133459.4(CCBE1):c.654+13G>C
|
rs769543293
|
0.00012
|
NM_133459.4(CCBE1):c.*2771A>G
|
rs886054050
|
0.00011
|
NM_133459.4(CCBE1):c.273C>T (p.Asp91=)
|
rs369006324
|
0.00011
|
NM_133459.4(CCBE1):c.41G>T (p.Gly14Val)
|
rs753016701
|
0.00011
|
NM_133459.4(CCBE1):c.445A>G (p.Ile149Val)
|
rs202039064
|
0.00011
|
NM_133459.4(CCBE1):c.*1628T>A
|
rs886054065
|
0.00010
|
NM_133459.4(CCBE1):c.*803C>G
|
rs755405287
|
0.00010
|
NM_133459.4(CCBE1):c.361C>T (p.Arg121Trp)
|
rs138933353
|
0.00010
|
NM_133459.4(CCBE1):c.*2411C>T
|
rs930821759
|
0.00009
|
NM_133459.4(CCBE1):c.*2953C>A
|
rs79828144
|
0.00009
|
NM_133459.4(CCBE1):c.671A>G (p.Asn224Ser)
|
rs369736447
|
0.00009
|
NM_133459.4(CCBE1):c.*2023G>C
|
rs540232421
|
0.00008
|
NM_133459.4(CCBE1):c.*2787T>C
|
rs538634534
|
0.00008
|
NM_133459.4(CCBE1):c.*3922T>A
|
rs939031016
|
0.00008
|
NM_133459.4(CCBE1):c.171C>T (p.Tyr57=)
|
rs375674582
|
0.00008
|
NM_133459.4(CCBE1):c.484C>T (p.Arg162Trp)
|
rs562613006
|
0.00008
|
NM_133459.4(CCBE1):c.901C>T (p.Arg301Trp)
|
rs375717418
|
0.00008
|
NM_133459.4(CCBE1):c.*1655T>A
|
rs187649543
|
0.00007
|
NM_133459.4(CCBE1):c.131+10G>A
|
rs755608387
|
0.00007
|
NM_133459.4(CCBE1):c.223T>A (p.Cys75Ser)
|
rs121908250
|
0.00007
|
NM_133459.4(CCBE1):c.683_684insT (p.Leu229fs)
|
rs563023244
|
0.00007
|
NM_133459.4(CCBE1):c.*126G>A
|
rs762712892
|
0.00006
|
NM_133459.4(CCBE1):c.*1421C>A
|
rs770614078
|
0.00006
|
NM_133459.4(CCBE1):c.*19C>T
|
rs376780422
|
0.00006
|
NM_133459.4(CCBE1):c.*2143G>A
|
rs557473811
|
0.00006
|
NM_133459.4(CCBE1):c.*3809C>T
|
rs1008249593
|
0.00006
|
NM_133459.4(CCBE1):c.*4180A>G
|
rs556156318
|
0.00006
|
NM_133459.4(CCBE1):c.132-20T>C
|
rs368826749
|
0.00006
|
NM_133459.4(CCBE1):c.310G>A (p.Asp104Asn)
|
rs139165727
|
0.00006
|
NM_133459.4(CCBE1):c.344C>T (p.Pro115Leu)
|
rs147402390
|
0.00006
|
NM_133459.4(CCBE1):c.362G>A (p.Arg121Gln)
|
rs779213116
|
0.00006
|
NM_133459.4(CCBE1):c.432G>T (p.Thr144=)
|
rs766221977
|
0.00006
|
NM_133459.4(CCBE1):c.655-7C>T
|
rs373230073
|
0.00006
|
NM_133459.4(CCBE1):c.845G>A (p.Arg282Gln)
|
rs140813794
|
0.00006
|
NM_133459.4(CCBE1):c.*182C>A
|
rs1023099526
|
0.00005
|
NM_133459.4(CCBE1):c.*2901T>A
|
rs151072136
|
0.00005
|
NM_133459.4(CCBE1):c.1212C>T (p.Phe404=)
|
rs763112456
|
0.00005
|
NM_133459.4(CCBE1):c.129C>T (p.Asp43=)
|
rs772767605
|
0.00005
|
NM_133459.4(CCBE1):c.287C>G (p.Ala96Gly)
|
rs149792489
|
0.00005
|
NM_133459.4(CCBE1):c.356A>T (p.Tyr119Phe)
|
rs772786164
|
0.00005
|
NM_133459.4(CCBE1):c.379C>T (p.Arg127Trp)
|
rs368235813
|
0.00005
|
NM_133459.4(CCBE1):c.473G>A (p.Arg158His)
|
rs548209010
|
0.00005
|
NM_133459.4(CCBE1):c.*1346G>A
|
rs370722132
|
0.00004
|
NM_133459.4(CCBE1):c.*1771G>A
|
rs886054063
|
0.00004
|
NM_133459.4(CCBE1):c.*2810A>G
|
rs886054049
|
0.00004
|
NM_133459.4(CCBE1):c.*3703G>A
|
rs886054044
|
0.00004
|
NM_133459.4(CCBE1):c.*4710G>A
|
rs1337715213
|
0.00004
|
NM_133459.4(CCBE1):c.*504T>C
|
rs1164954310
|
0.00004
|
NM_133459.4(CCBE1):c.-30G>C
|
rs777317997
|
0.00004
|
NM_133459.4(CCBE1):c.1003T>C (p.Phe335Leu)
|
rs200656869
|
0.00004
|
NM_133459.4(CCBE1):c.1005C>T (p.Phe335=)
|
rs568146941
|
0.00004
|
NM_133459.4(CCBE1):c.1172G>A (p.Arg391Lys)
|
rs150717489
|
0.00004
|
NM_133459.4(CCBE1):c.118G>A (p.Glu40Lys)
|
rs1258286870
|
0.00004
|
NM_133459.4(CCBE1):c.204A>G (p.Thr68=)
|
rs762304720
|
0.00004
|
NM_133459.4(CCBE1):c.500G>A (p.Arg167Gln)
|
rs368065685
|
0.00004
|
NM_133459.4(CCBE1):c.853A>G (p.Met285Val)
|
rs766239392
|
0.00004
|
NM_133459.4(CCBE1):c.905G>A (p.Arg302Lys)
|
rs144421610
|
0.00004
|
NM_133459.4(CCBE1):c.916-2A>G
|
rs367990953
|
0.00004
|
NM_133459.4(CCBE1):c.*1257T>C
|
rs967571265
|
0.00003
|
NM_133459.4(CCBE1):c.*2017G>A
|
rs886054058
|
0.00003
|
NM_133459.4(CCBE1):c.*2058G>A
|
rs886054055
|
0.00003
|
NM_133459.4(CCBE1):c.*2389C>G
|
rs911000731
|
0.00003
|
NM_133459.4(CCBE1):c.*3143T>C
|
rs886054047
|
0.00003
|
NM_133459.4(CCBE1):c.*3257A>G
|
rs548992924
|
0.00003
|
NM_133459.4(CCBE1):c.*3623A>C
|
rs886054046
|
0.00003
|
NM_133459.4(CCBE1):c.*4246C>G
|
rs886054040
|
0.00003
|
NM_133459.4(CCBE1):c.1036C>T (p.Arg346Cys)
|
rs761881641
|
0.00003
|
NM_133459.4(CCBE1):c.1040A>G (p.Asn347Ser)
|
rs1372736370
|
0.00003
|
NM_133459.4(CCBE1):c.1041T>C (p.Asn347=)
|
rs748817654
|
0.00003
|
NM_133459.4(CCBE1):c.1071C>T (p.Phe357=)
|
rs751850918
|
0.00003
|
NM_133459.4(CCBE1):c.1072G>A (p.Gly358Arg)
|
rs755276492
|
0.00003
|
NM_133459.4(CCBE1):c.401-17C>T
|
rs1380525573
|
0.00003
|
NM_133459.4(CCBE1):c.602C>T (p.Thr201Ile)
|
rs755893600
|
0.00003
|
NM_133459.4(CCBE1):c.84G>T (p.Ala28=)
|
rs964303785
|
0.00003
|
NM_133459.4(CCBE1):c.929C>T (p.Ala310Val)
|
rs140470196
|
0.00003
|
NM_133459.4(CCBE1):c.951+17G>T
|
rs756987434
|
0.00003
|
NM_133459.4(CCBE1):c.*1190C>T
|
rs550948127
|
0.00002
|
NM_133459.4(CCBE1):c.*1401G>C
|
rs563683232
|
0.00002
|
NM_133459.4(CCBE1):c.*3800G>A
|
rs1296262836
|
0.00002
|
NM_133459.4(CCBE1):c.*610G>A
|
rs551011131
|
0.00002
|
NM_133459.4(CCBE1):c.1047C>T (p.Ile349=)
|
rs779502589
|
0.00002
|
NM_133459.4(CCBE1):c.189A>G (p.Ser63=)
|
rs141422782
|
0.00002
|
NM_133459.4(CCBE1):c.271G>A (p.Asp91Asn)
|
rs750584132
|
0.00002
|
NM_133459.4(CCBE1):c.33T>A (p.Ala11=)
|
rs775045988
|
0.00002
|
NM_133459.4(CCBE1):c.342T>C (p.Tyr114=)
|
rs114504060
|
0.00002
|
NM_133459.4(CCBE1):c.520T>C (p.Cys174Arg)
|
rs121908254
|
0.00002
|
NM_133459.4(CCBE1):c.537A>G (p.Lys179=)
|
rs376156676
|
0.00002
|
NM_133459.4(CCBE1):c.543C>T (p.Pro181=)
|
rs1052383328
|
0.00002
|
NM_133459.4(CCBE1):c.552T>C (p.Thr184=)
|
rs771507895
|
0.00002
|
NM_133459.4(CCBE1):c.664C>T (p.Leu222Phe)
|
rs770685560
|
0.00002
|
NM_133459.4(CCBE1):c.776-11T>C
|
rs772791173
|
0.00002
|
NM_133459.4(CCBE1):c.*160A>G
|
rs770290457
|
0.00001
|
NM_133459.4(CCBE1):c.*194A>G
|
rs886054073
|
0.00001
|
NM_133459.4(CCBE1):c.*2912G>T
|
rs559362654
|
0.00001
|
NM_133459.4(CCBE1):c.*3147T>C
|
rs1473839692
|
0.00001
|
NM_133459.4(CCBE1):c.*3801G>A
|
rs1909965307
|
0.00001
|
NM_133459.4(CCBE1):c.*4738G>A
|
rs1004161493
|
0.00001
|
NM_133459.4(CCBE1):c.*4755A>C
|
rs938648058
|
0.00001
|
NM_133459.4(CCBE1):c.*4877C>G
|
rs139842926
|
0.00001
|
NM_133459.4(CCBE1):c.*616A>G
|
rs532612240
|
0.00001
|
NM_133459.4(CCBE1):c.*752T>C
|
rs886054068
|
0.00001
|
NM_133459.4(CCBE1):c.1017A>G (p.Leu339=)
|
rs765502530
|
0.00001
|
NM_133459.4(CCBE1):c.108A>G (p.Arg36=)
|
rs1254568069
|
0.00001
|
NM_133459.4(CCBE1):c.1142T>C (p.Met381Thr)
|
rs548559412
|
0.00001
|
NM_133459.4(CCBE1):c.1148T>C (p.Leu383Pro)
|
rs755044198
|
0.00001
|
NM_133459.4(CCBE1):c.1157G>C (p.Gly386Ala)
|
rs766519876
|
0.00001
|
NM_133459.4(CCBE1):c.1163A>G (p.Asp388Gly)
|
rs530079482
|
0.00001
|
NM_133459.4(CCBE1):c.116C>T (p.Pro39Leu)
|
rs1481447742
|
0.00001
|
NM_133459.4(CCBE1):c.1175G>T (p.Arg392Ile)
|
rs775325478
|
0.00001
|
NM_133459.4(CCBE1):c.12G>A (p.Pro4=)
|
rs1358508660
|
0.00001
|
NM_133459.4(CCBE1):c.132-18C>T
|
rs1454725561
|
0.00001
|
NM_133459.4(CCBE1):c.212+18G>A
|
rs771823200
|
0.00001
|
NM_133459.4(CCBE1):c.260C>A (p.Pro87Gln)
|
rs756973760
|
0.00001
|
NM_133459.4(CCBE1):c.274G>A (p.Val92Ile)
|
rs374811948
|
0.00001
|
NM_133459.4(CCBE1):c.282C>T (p.Ala94=)
|
rs201917831
|
0.00001
|
NM_133459.4(CCBE1):c.283G>A (p.Glu95Lys)
|
rs759566769
|
0.00001
|
NM_133459.4(CCBE1):c.401-16del
|
rs755869578
|
0.00001
|
NM_133459.4(CCBE1):c.534C>A (p.Asp178Glu)
|
rs146639693
|
0.00001
|
NM_133459.4(CCBE1):c.541C>T (p.Pro181Ser)
|
rs116596858
|
0.00001
|
NM_133459.4(CCBE1):c.547G>T (p.Asp183Tyr)
|
rs759940843
|
0.00001
|
NM_133459.4(CCBE1):c.569A>G (p.Glu190Gly)
|
rs1485377642
|
0.00001
|
NM_133459.4(CCBE1):c.633C>T (p.Thr211=)
|
rs764676830
|
0.00001
|
NM_133459.4(CCBE1):c.685C>A (p.Leu229Met)
|
rs1910765837
|
0.00001
|
NM_133459.4(CCBE1):c.708C>T (p.Asp236=)
|
rs766503507
|
0.00001
|
NM_133459.4(CCBE1):c.738A>G (p.Pro246=)
|
rs201437351
|
0.00001
|
NM_133459.4(CCBE1):c.774C>T (p.Pro258=)
|
rs776263282
|
0.00001
|
NM_133459.4(CCBE1):c.800C>T (p.Pro267Leu)
|
rs749766791
|
0.00001
|
NM_133459.4(CCBE1):c.811G>A (p.Gly271Ser)
|
rs1379996037
|
0.00001
|
NM_133459.4(CCBE1):c.83C>T (p.Ala28Val)
|
rs776814391
|
0.00001
|
NM_133459.4(CCBE1):c.927G>T (p.Gly309=)
|
rs751100378
|
0.00001
|
NM_133459.4(CCBE1):c.942T>C (p.Asp314=)
|
rs200439896
|
0.00001
|
NM_133459.4(CCBE1):c.965C>T (p.Ala322Val)
|
rs115699870
|
0.00001
|
NM_133459.4(CCBE1):c.968C>A (p.Pro323His)
|
rs746881230
|
0.00001
|
GRCh37/hg19 18q21.32(chr18:57108312-57484185)x3
|
|
|
GRCh37/hg19 18q21.32(chr18:57169991-57303589)x1
|
|
|
NC_000018.9:g.(?_57363841)_(57364574_?)del
|
|
|
NM_133459.4(CCBE1):c.*1161dup
|
rs886054067
|
|
NM_133459.4(CCBE1):c.*1251G>A
|
rs886054066
|
|
NM_133459.4(CCBE1):c.*1258C>G
|
rs571761684
|
|
NM_133459.4(CCBE1):c.*146C>T
|
rs886054074
|
|
NM_133459.4(CCBE1):c.*1489G>T
|
rs1598896983
|
|
NM_133459.4(CCBE1):c.*1724C>T
|
rs556647312
|
|
NM_133459.4(CCBE1):c.*1725G>A
|
rs886054064
|
|
NM_133459.4(CCBE1):c.*1737C>T
|
rs553357543
|
|
NM_133459.4(CCBE1):c.*1861C>T
|
rs1192851582
|
|
NM_133459.4(CCBE1):c.*1933del
|
rs886054061
|
|
NM_133459.4(CCBE1):c.*1933dup
|
rs886054061
|
|
NM_133459.4(CCBE1):c.*1991_*1994del
|
rs886054060
|
|
NM_133459.4(CCBE1):c.*2013_*2016del
|
rs373652074
|
|
NM_133459.4(CCBE1):c.*2014_*2016dup
|
rs373652074
|
|
NM_133459.4(CCBE1):c.*2015_*2017dup
|
rs886054057
|
|
NM_133459.4(CCBE1):c.*2051C>A
|
rs886054056
|
|
NM_133459.4(CCBE1):c.*2121C>T
|
rs1910029324
|
|
NM_133459.4(CCBE1):c.*2210T>C
|
rs886054054
|
|
NM_133459.4(CCBE1):c.*2227G>A
|
rs9959855
|
|
NM_133459.4(CCBE1):c.*2297_*2298dup
|
rs35448271
|
|
NM_133459.4(CCBE1):c.*2298dup
|
rs35448271
|
|
NM_133459.4(CCBE1):c.*2403dup
|
|
|
NM_133459.4(CCBE1):c.*261T>C
|
rs886054072
|
|
NM_133459.4(CCBE1):c.*2635A>G
|
rs1187439806
|
|
NM_133459.4(CCBE1):c.*2638del
|
rs5825337
|
|
NM_133459.4(CCBE1):c.*2639del
|
rs886054051
|
|
NM_133459.4(CCBE1):c.*267del
|
rs561328038
|
|
NM_133459.4(CCBE1):c.*2891G>A
|
rs886054048
|
|
NM_133459.4(CCBE1):c.*2951_*2952dup
|
rs11424706
|
|
NM_133459.4(CCBE1):c.*2952dup
|
rs11424706
|
|
NM_133459.4(CCBE1):c.*306_*307insAAAT
|
rs886054071
|
|
NM_133459.4(CCBE1):c.*3231G>A
|
rs1008043301
|
|
NM_133459.4(CCBE1):c.*3239G>C
|
rs1909983760
|
|
NM_133459.4(CCBE1):c.*3475G>C
|
rs17769805
|
|
NM_133459.4(CCBE1):c.*3668_*3676del
|
rs886054045
|
|
NM_133459.4(CCBE1):c.*3704C>A
|
rs193017602
|
|
NM_133459.4(CCBE1):c.*3784_*3787del
|
rs886054043
|
|
NM_133459.4(CCBE1):c.*3853C>T
|
rs145393328
|
|
NM_133459.4(CCBE1):c.*3883G>T
|
rs886054041
|
|
NM_133459.4(CCBE1):c.*4215A>T
|
rs1344828295
|
|
NM_133459.4(CCBE1):c.*4282G>A
|
rs866996406
|
|
NM_133459.4(CCBE1):c.*4426del
|
rs66482821
|
|
NM_133459.4(CCBE1):c.*4525T>C
|
rs1909941641
|
|
NM_133459.4(CCBE1):c.*4550AAT[1]
|
rs553910582
|
|
NM_133459.4(CCBE1):c.*4796G>C
|
rs1048008
|
|
NM_133459.4(CCBE1):c.*4956A>C
|
rs886054039
|
|
NM_133459.4(CCBE1):c.*519dup
|
rs35018840
|
|
NM_133459.4(CCBE1):c.*645T>C
|
rs886054070
|
|
NM_133459.4(CCBE1):c.*739A>T
|
rs886054069
|
|
NM_133459.4(CCBE1):c.*781A>T
|
rs1598897452
|
|
NM_133459.4(CCBE1):c.*938G>T
|
rs1032781139
|
|
NM_133459.4(CCBE1):c.1000T>G (p.Ser334Ala)
|
rs1910146610
|
|
NM_133459.4(CCBE1):c.1030G>C (p.Asp344His)
|
rs2143605525
|
|
NM_133459.4(CCBE1):c.1037G>A (p.Arg346His)
|
|
|
NM_133459.4(CCBE1):c.1037G>T (p.Arg346Leu)
|
rs768229052
|
|
NM_133459.4(CCBE1):c.1045A>G (p.Ile349Val)
|
rs2143605403
|
|
NM_133459.4(CCBE1):c.1049C>T (p.Thr350Ile)
|
|
|
NM_133459.4(CCBE1):c.1052A>G (p.Glu351Gly)
|
rs757595184
|
|
NM_133459.4(CCBE1):c.1058A>G (p.Gln353Arg)
|
rs192224843
|
|
NM_133459.4(CCBE1):c.105C>T (p.Tyr35=)
|
|
|
NM_133459.4(CCBE1):c.1072_1075del (p.Gly358fs)
|
|
|
NM_133459.4(CCBE1):c.1079G>A (p.Arg360Gln)
|
rs200219373
|
|
NM_133459.4(CCBE1):c.1086C>T (p.His362=)
|
rs1910139279
|
|
NM_133459.4(CCBE1):c.1101G>A (p.Glu367=)
|
|
|
NM_133459.4(CCBE1):c.1111C>T (p.Pro371Ser)
|
|
|
NM_133459.4(CCBE1):c.1120T>A (p.Phe374Ile)
|
rs778249985
|
|
NM_133459.4(CCBE1):c.1126A>G (p.Ser376Gly)
|
rs983124374
|
|
NM_133459.4(CCBE1):c.1141A>G (p.Met381Val)
|
rs2143604802
|
|
NM_133459.4(CCBE1):c.1164C>T (p.Asp388=)
|
|
|
NM_133459.4(CCBE1):c.1166A>G (p.His389Arg)
|
rs751464648
|
|
NM_133459.4(CCBE1):c.1173A>G (p.Arg391=)
|
rs1044109324
|
|
NM_133459.4(CCBE1):c.118G>C (p.Glu40Gln)
|
|
|
NM_133459.4(CCBE1):c.1196G>A (p.Arg399Lys)
|
|
|
NM_133459.4(CCBE1):c.1198G>A (p.Ala400Thr)
|
rs1437521994
|
|
NM_133459.4(CCBE1):c.11C>T (p.Pro4Leu)
|
rs1399379357
|
|
NM_133459.4(CCBE1):c.1200C>T (p.Ala400=)
|
|
|
NM_133459.4(CCBE1):c.1217C>A (p.Pro406Gln)
|
|
|
NM_133459.4(CCBE1):c.121G>A (p.Asp41Asn)
|
rs2054820970
|
|
NM_133459.4(CCBE1):c.123C>T (p.Asp41=)
|
rs80008675
|
|
NM_133459.4(CCBE1):c.131+11_131+12insT
|
|
|
NM_133459.4(CCBE1):c.131+14G>A
|
|
|
NM_133459.4(CCBE1):c.131+18C>T
|
|
|
NM_133459.4(CCBE1):c.131+5G>A
|
|
|
NM_133459.4(CCBE1):c.132-14_132-13delinsCT
|
rs2144762326
|
|
NM_133459.4(CCBE1):c.138C>A (p.Ile46=)
|
|
|
NM_133459.4(CCBE1):c.140G>C (p.Cys47Ser)
|
|
|
NM_133459.4(CCBE1):c.155T>C (p.Ile52Thr)
|
|
|
NM_133459.4(CCBE1):c.159G>A (p.Ala53=)
|
|
|
NM_133459.4(CCBE1):c.166A>G (p.Lys56Glu)
|
|
|
NM_133459.4(CCBE1):c.173C>T (p.Pro58Leu)
|
rs778757631
|
|
NM_133459.4(CCBE1):c.174G>C (p.Pro58=)
|
|
|
NM_133459.4(CCBE1):c.190G>A (p.Gly64Ser)
|
|
|
NM_133459.4(CCBE1):c.193G>A (p.Glu65Lys)
|
|
|
NM_133459.4(CCBE1):c.201C>G (p.Thr67=)
|
rs1424630322
|
|
NM_133459.4(CCBE1):c.208T>C (p.Tyr70His)
|
|
|
NM_133459.4(CCBE1):c.212+13G>A
|
|
|
NM_133459.4(CCBE1):c.212+19C>A
|
|
|
NM_133459.4(CCBE1):c.212+20G>A
|
|
|
NM_133459.4(CCBE1):c.213-11_213-8del
|
|
|
NM_133459.4(CCBE1):c.213-19A>G
|
|
|
NM_133459.4(CCBE1):c.213-1G>A
|
rs201030273
|
|
NM_133459.4(CCBE1):c.213-5C>T
|
|
|
NM_133459.4(CCBE1):c.213-7C>G
|
|
|
NM_133459.4(CCBE1):c.21C>A (p.Ser7Arg)
|
|
|
NM_133459.4(CCBE1):c.226A>C (p.Lys76Gln)
|
|
|
NM_133459.4(CCBE1):c.234T>C (p.Tyr78=)
|
|
|
NM_133459.4(CCBE1):c.23G>T (p.Arg8Leu)
|
|
|
NM_133459.4(CCBE1):c.252A>G (p.Gln84=)
|
|
|
NM_133459.4(CCBE1):c.253T>C (p.Cys85Arg)
|
|
|
NM_133459.4(CCBE1):c.265+1G>A
|
|
|
NM_133459.4(CCBE1):c.266-11T>C
|
|
|
NM_133459.4(CCBE1):c.267T>C (p.Asp89=)
|
rs2143732737
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NM_133459.4(CCBE1):c.270C>T (p.Tyr90=)
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NM_133459.4(CCBE1):c.284A>G (p.Glu95Gly)
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NM_133459.4(CCBE1):c.289C>G (p.Pro97Ala)
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rs1216440169
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NM_133459.4(CCBE1):c.289C>T (p.Pro97Ser)
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rs1216440169
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NM_133459.4(CCBE1):c.28G>A (p.Gly10Arg)
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NM_133459.4(CCBE1):c.2T>C (p.Met1Thr)
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NM_133459.4(CCBE1):c.2T>G (p.Met1Arg)
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NM_133459.4(CCBE1):c.303G>T (p.Gln101His)
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NM_133459.4(CCBE1):c.305G>C (p.Cys102Ser)
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rs121908251
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NM_133459.4(CCBE1):c.308C>A (p.Thr103Lys)
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NM_133459.4(CCBE1):c.309G>A (p.Thr103=)
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NM_133459.4(CCBE1):c.322C>T (p.Arg108Ter)
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NM_133459.4(CCBE1):c.345G>A (p.Pro115=)
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NM_133459.4(CCBE1):c.347G>C (p.Gly116Ala)
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NM_133459.4(CCBE1):c.347G>T (p.Gly116Val)
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NM_133459.4(CCBE1):c.353G>T (p.Arg118Leu)
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NM_133459.4(CCBE1):c.37_58del (p.Arg13fs)
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NM_133459.4(CCBE1):c.381G>A (p.Arg127=)
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NM_133459.4(CCBE1):c.400+17C>T
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rs1258539221
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NM_133459.4(CCBE1):c.400+1del
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rs2143731723
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NM_133459.4(CCBE1):c.401-11G>C
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rs2143722177
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NM_133459.4(CCBE1):c.429G>A (p.Gly143=)
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NM_133459.4(CCBE1):c.432G>A (p.Thr144=)
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NM_133459.4(CCBE1):c.435G>A (p.Leu145=)
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NM_133459.4(CCBE1):c.444C>T (p.His148=)
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rs2143721870
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NM_133459.4(CCBE1):c.458C>T (p.Thr153Ile)
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rs200149541
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NM_133459.4(CCBE1):c.460T>G (p.Leu154Val)
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rs796238108
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NM_133459.4(CCBE1):c.465C>T (p.Gly155=)
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NM_133459.4(CCBE1):c.477C>A (p.Cys159Ter)
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NM_133459.4(CCBE1):c.491G>A (p.Gly164Asp)
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NM_133459.4(CCBE1):c.501G>A (p.Arg167=)
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NM_133459.4(CCBE1):c.505G>C (p.Asp169His)
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rs779047579
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NM_133459.4(CCBE1):c.508G>A (p.Asp170Asn)
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rs2143721414
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NM_133459.4(CCBE1):c.519A>C (p.Thr173=)
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NM_133459.4(CCBE1):c.528G>C (p.Arg176Ser)
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NM_133459.4(CCBE1):c.545A>T (p.Asn182Ile)
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rs764855611
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NM_133459.4(CCBE1):c.553+18A>G
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NM_133459.4(CCBE1):c.553+8G>A
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NM_133459.4(CCBE1):c.554-12C>T
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NM_133459.4(CCBE1):c.554-3C>T
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rs1911116370
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NM_133459.4(CCBE1):c.560A>G (p.Glu187Gly)
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NM_133459.4(CCBE1):c.567T>G (p.Ser189=)
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NM_133459.4(CCBE1):c.56G>A (p.Ser19Asn)
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NM_133459.4(CCBE1):c.578T>C (p.Val193Ala)
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NM_133459.4(CCBE1):c.57C>A (p.Ser19Arg)
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NM_133459.4(CCBE1):c.585C>T (p.Ala195=)
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NM_133459.4(CCBE1):c.596G>A (p.Cys199Tyr)
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NM_133459.4(CCBE1):c.606C>T (p.Cys202=)
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NM_133459.4(CCBE1):c.60G>C (p.Leu20=)
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rs2054822706
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NM_133459.4(CCBE1):c.612G>A (p.Glu204=)
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NM_133459.4(CCBE1):c.618C>T (p.Tyr206=)
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NM_133459.4(CCBE1):c.634G>A (p.Val212Met)
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NM_133459.4(CCBE1):c.639G>A (p.Leu213=)
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NM_133459.4(CCBE1):c.654+15G>A
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NM_133459.4(CCBE1):c.654+20del
|
rs760019600
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NM_133459.4(CCBE1):c.654+4C>G
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rs770958531
|
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NM_133459.4(CCBE1):c.654+4C>T
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rs770958531
|
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NM_133459.4(CCBE1):c.654+5G>A
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rs150596993
|
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NM_133459.4(CCBE1):c.654+5G>C
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rs150596993
|
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NM_133459.4(CCBE1):c.654+9C>T
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NM_133459.4(CCBE1):c.654G>C (p.Lys218Asn)
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rs765432175
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NM_133459.4(CCBE1):c.655-10C>A
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NM_133459.4(CCBE1):c.655-4G>T
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NM_133459.4(CCBE1):c.660T>C (p.Ala220=)
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NM_133459.4(CCBE1):c.665T>C (p.Leu222Pro)
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NM_133459.4(CCBE1):c.668C>T (p.Pro223Leu)
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rs1351639103
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NM_133459.4(CCBE1):c.669C>A (p.Pro223=)
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rs886054075
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NM_133459.4(CCBE1):c.66G>A (p.Pro22=)
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NM_133459.4(CCBE1):c.672C>T (p.Asn224=)
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NM_133459.4(CCBE1):c.687G>A (p.Leu229=)
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NM_133459.4(CCBE1):c.693G>A (p.Lys231=)
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NM_133459.4(CCBE1):c.699C>G (p.Ile233Met)
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rs2143649786
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NM_133459.4(CCBE1):c.6G>A (p.Val2=)
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NM_133459.4(CCBE1):c.700A>G (p.Thr234Ala)
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NM_133459.4(CCBE1):c.70C>A (p.Leu24Met)
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NM_133459.4(CCBE1):c.717G>A (p.Leu239=)
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NM_133459.4(CCBE1):c.727A>G (p.Thr243Ala)
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NM_133459.4(CCBE1):c.733C>G (p.Leu245Val)
|
rs761011754
|
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NM_133459.4(CCBE1):c.746C>T (p.Pro249Leu)
|
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NM_133459.4(CCBE1):c.764A>G (p.Gln255Arg)
|
rs2143649409
|
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NM_133459.4(CCBE1):c.775+16G>A
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NM_133459.4(CCBE1):c.775+17G>A
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NM_133459.4(CCBE1):c.775+19A>G
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NM_133459.4(CCBE1):c.775+7G>T
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NM_133459.4(CCBE1):c.775+82A>G
|
rs3809990
|
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NM_133459.4(CCBE1):c.775G>A (p.Gly259Ser)
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NM_133459.4(CCBE1):c.776-8G>C
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NM_133459.4(CCBE1):c.792G>A (p.Lys264=)
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NM_133459.4(CCBE1):c.806T>C (p.Phe269Ser)
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NM_133459.4(CCBE1):c.808C>T (p.Pro270Ser)
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NM_133459.4(CCBE1):c.824C>T (p.Pro275Leu)
|
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NM_133459.4(CCBE1):c.828T>A (p.Pro276=)
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NM_133459.4(CCBE1):c.844C>T (p.Arg282Trp)
|
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NM_133459.4(CCBE1):c.859C>T (p.Pro287Ser)
|
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NM_133459.4(CCBE1):c.864G>A (p.Met288Ile)
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NM_133459.4(CCBE1):c.882G>A (p.Leu294=)
|
rs2143618879
|
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NM_133459.4(CCBE1):c.886dup (p.His296fs)
|
|
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NM_133459.4(CCBE1):c.888C>T (p.His296=)
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NM_133459.4(CCBE1):c.889A>G (p.Ile297Val)
|
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NM_133459.4(CCBE1):c.89G>T (p.Gly30Val)
|
rs2144763623
|
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NM_133459.4(CCBE1):c.909C>A (p.Gly303=)
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NM_133459.4(CCBE1):c.915+15A>G
|
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NM_133459.4(CCBE1):c.916-19A>C
|
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NM_133459.4(CCBE1):c.916-20C>T
|
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NM_133459.4(CCBE1):c.916-20del
|
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NM_133459.4(CCBE1):c.916-2A>T
|
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NM_133459.4(CCBE1):c.920C>T (p.Pro307Leu)
|
|
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NM_133459.4(CCBE1):c.928dup (p.Ala310fs)
|
rs2143618172
|
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NM_133459.4(CCBE1):c.944G>A (p.Gly315Asp)
|
rs753076643
|
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NM_133459.4(CCBE1):c.949A>G (p.Lys317Glu)
|
rs2143618046
|
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NM_133459.4(CCBE1):c.94_95dup (p.Trp33fs)
|
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NM_133459.4(CCBE1):c.951+11T>C
|
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NM_133459.4(CCBE1):c.951+7C>T
|
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NM_133459.4(CCBE1):c.952-11T>C
|
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NM_133459.4(CCBE1):c.952G>T (p.Gly318Trp)
|
|
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NM_133459.4(CCBE1):c.976A>G (p.Arg326Gly)
|
rs1910243716
|
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NM_133459.4(CCBE1):c.979G>C (p.Gly327Arg)
|
rs121908252
|
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NM_133459.4(CCBE1):c.987+12del
|
rs1248911841
|
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NM_133459.4(CCBE1):c.987+13_987+14del
|
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NM_133459.4(CCBE1):c.987+17_987+18del
|
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NM_133459.4(CCBE1):c.988-154dup
|
rs11427032
|
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NM_133459.4(CCBE1):c.988-18T>C
|
|
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NM_133459.4(CCBE1):c.988-19A>T
|
rs1910149176
|
|
NM_133459.4(CCBE1):c.991C>T (p.Pro331Ser)
|
rs1044732773
|
|