NM_001321759.2(CDIN1):c.273+82C>T
|
rs10220785
|
0.95448
|
NM_001321759.2(CDIN1):c.274-82T>A
|
rs6495863
|
0.95445
|
NM_001321759.2(CDIN1):c.148-19G>T
|
rs11073191
|
0.95366
|
NM_006363.6(SEC23B):c.1233+9A>G
|
rs6081189
|
0.91788
|
NM_006363.6(SEC23B):c.834+40T>C
|
rs911115
|
0.91369
|
NM_006363.5(SEC23B):c.-232C>G
|
rs4813333
|
0.83645
|
NM_001321759.2(CDIN1):c.477-55G>A
|
rs2381887
|
0.78569
|
NM_006363.6(SEC23B):c.1665+48C>T
|
rs2295557
|
0.66701
|
NM_001321759.2(CDIN1):c.476+33T>C
|
rs3743338
|
0.55611
|
NM_001321759.2(CDIN1):c.-105C>T
|
rs3743337
|
0.48044
|
NM_001321759.2(CDIN1):c.217C>G (p.Leu73Val)
|
rs3784678
|
0.43599
|
NM_138477.4(CDAN1):c.3474A>C (p.Leu1158=)
|
rs16957091
|
0.41429
|
NM_138477.4(CDAN1):c.320A>T (p.Gln107Leu)
|
rs4265781
|
0.41423
|
NM_138477.4(CDAN1):c.*142A>G
|
rs3742987
|
0.41378
|
NM_138477.4(CDAN1):c.1787A>G (p.Gln596Arg)
|
rs12917189
|
0.40225
|
NM_138477.4(CDAN1):c.*214T>C
|
rs3742988
|
0.39766
|
NM_006563.5(KLF1):c.304T>C (p.Ser102Pro)
|
rs2072597
|
0.36000
|
NM_138477.4(CDAN1):c.2352+8C>T
|
rs12594483
|
0.34139
|
NM_006363.6(SEC23B):c.1744-20T>A
|
rs3736775
|
0.33572
|
NM_006363.6(SEC23B):c.834+41G>A
|
rs1555353
|
0.30830
|
NM_138477.4(CDAN1):c.477C>T (p.Pro159=)
|
rs7167392
|
0.26335
|
NM_138477.4(CDAN1):c.2671C>T (p.Arg891Cys)
|
rs8023524
|
0.25780
|
NM_138477.4(CDAN1):c.2408-3C>T
|
rs12905385
|
0.24113
|
NM_006363.6(SEC23B):c.1467C>G (p.His489Gln)
|
rs2273526
|
0.12707
|
NM_006363.6(SEC23B):c.1298C>T (p.Pro433Leu)
|
rs17807673
|
0.10334
|
NM_006363.6(SEC23B):c.1405-7C>T
|
rs2273525
|
0.09089
|
NM_138477.4(CDAN1):c.3153G>A (p.Glu1051=)
|
rs28661826
|
0.06415
|
NM_138477.4(CDAN1):c.3450+11C>T
|
rs56046122
|
0.06311
|
NM_138477.4(CDAN1):c.816C>A (p.Thr272=)
|
rs76599133
|
0.06184
|
NM_138477.4(CDAN1):c.443C>T (p.Ala148Val)
|
rs73410959
|
0.06134
|
NM_138477.4(CDAN1):c.558C>G (p.Pro186=)
|
rs12594325
|
0.05980
|
NM_138477.4(CDAN1):c.*463_*465del
|
rs111961345
|
0.05900
|
NM_006563.5(KLF1):c.*277C>T
|
rs16978757
|
0.05559
|
NM_006563.5(KLF1):c.*296G>A
|
rs16978754
|
0.05553
|
NM_006563.5(KLF1):c.544T>C (p.Phe182Leu)
|
rs2072596
|
0.04509
|
NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile)
|
rs41309927
|
0.04225
|
NM_006363.6(SEC23B):c.2061G>T (p.Leu687=)
|
rs7262532
|
0.03235
|
NM_138477.4(CDAN1):c.2174+20G>A
|
rs75993383
|
0.02307
|
NM_138477.4(CDAN1):c.1969G>A (p.Gly657Ser)
|
rs61747153
|
0.02138
|
NM_138477.4(CDAN1):c.2948-13C>T
|
rs117946783
|
0.02118
|
NM_006563.5(KLF1):c.115A>C (p.Met39Leu)
|
rs112631212
|
0.02025
|
NM_138477.4(CDAN1):c.2836C>T (p.Arg946Trp)
|
rs114779238
|
0.01260
|
NM_138477.4(CDAN1):c.157C>T (p.Leu53=)
|
rs186189866
|
0.01218
|
NM_006363.5(SEC23B):c.-57G>C
|
rs113396443
|
0.01206
|
NM_006363.6(SEC23B):c.-24C>T
|
rs115614151
|
0.01204
|
NM_138477.4(CDAN1):c.1968C>T (p.Thr656=)
|
rs61742992
|
0.01147
|
NM_138477.4(CDAN1):c.2445C>T (p.Gly815=)
|
rs114208791
|
0.01142
|
NM_006363.6(SEC23B):c.770C>T (p.Thr257Ile)
|
rs146917730
|
0.01006
|
NM_138477.4(CDAN1):c.3194G>A (p.Arg1065Gln)
|
rs61746356
|
0.00932
|
NM_138477.4(CDAN1):c.-14G>A
|
rs190314153
|
0.00804
|
NM_006363.6(SEC23B):c.834+116A>G
|
rs113825530
|
0.00772
|
NM_006363.6(SEC23B):c.1743+168A>G
|
rs111951711
|
0.00771
|
NM_006363.6(SEC23B):c.*657A>G
|
rs114937628
|
0.00723
|
NM_006363.6(SEC23B):c.1503C>T (p.Ile501=)
|
rs147036760
|
0.00699
|
NM_006363.5(SEC23B):c.-52T>G
|
rs191103191
|
0.00681
|
NM_006363.6(SEC23B):c.1484G>A (p.Arg495His)
|
rs141588462
|
0.00677
|
NM_006363.6(SEC23B):c.816T>C (p.Ile272=)
|
rs115177758
|
0.00677
|
NM_138477.4(CDAN1):c.2700G>A (p.Gln900=)
|
rs61745640
|
0.00622
|
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu)
|
rs36023150
|
0.00602
|
NM_006363.5(SEC23B):c.-186G>T
|
rs138178711
|
0.00524
|
NM_138477.4(CDAN1):c.1368-15G>A
|
rs74586882
|
0.00523
|
NM_138477.4(CDAN1):c.906G>A (p.Leu302=)
|
rs61745955
|
0.00486
|
NM_006363.6(SEC23B):c.1649G>A (p.Arg550Gln)
|
rs111572459
|
0.00474
|
NM_138477.4(CDAN1):c.2738A>T (p.Gln913Leu)
|
rs76947588
|
0.00380
|
NM_006363.6(SEC23B):c.1404+20_1404+21del
|
rs369173250
|
0.00378
|
NM_138477.4(CDAN1):c.309G>T (p.Pro103=)
|
rs575562332
|
0.00350
|
NM_138477.4(CDAN1):c.237G>C (p.Ser79=)
|
rs180857061
|
0.00344
|
NM_006363.6(SEC23B):c.221+76A>G
|
rs183784857
|
0.00333
|
NM_006363.6(SEC23B):c.1666-148G>C
|
rs116352690
|
0.00329
|
NM_006363.6(SEC23B):c.835-7A>G
|
rs184484121
|
0.00317
|
NM_138477.4(CDAN1):c.2263-5G>A
|
rs190802841
|
0.00311
|
NM_138477.4(CDAN1):c.3666T>C (p.Thr1222=)
|
rs77191722
|
0.00309
|
NM_138477.4(CDAN1):c.1967C>G (p.Thr656Ser)
|
rs139202766
|
0.00296
|
NM_138477.4(CDAN1):c.2067G>A (p.Ala689=)
|
rs147161012
|
0.00288
|
NM_138477.4(CDAN1):c.1524A>G (p.Gln508=)
|
rs147500837
|
0.00283
|
NM_006363.6(SEC23B):c.993+19G>A
|
rs144225458
|
0.00281
|
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=)
|
rs138198461
|
0.00271
|
NM_006363.6(SEC23B):c.367-17T>C
|
rs77096313
|
0.00235
|
NM_006363.6(SEC23B):c.2298C>T (p.Ala766=)
|
rs77945587
|
0.00228
|
NM_138477.4(CDAN1):c.2542-4C>G
|
rs147426809
|
0.00225
|
NM_006363.6(SEC23B):c.689+10C>T
|
rs200020725
|
0.00220
|
NM_032609.3(COX4I2):c.412G>A (p.Glu138Lys)
|
rs119455950
|
0.00218
|
NM_006563.5(KLF1):c.311C>T (p.Ala104Val)
|
rs182276666
|
0.00210
|
NM_138477.4(CDAN1):c.3450+17A>G
|
rs141626745
|
0.00210
|
NM_006363.6(SEC23B):c.1595G>C (p.Gly532Ala)
|
rs143456757
|
0.00207
|
NM_138477.4(CDAN1):c.2463G>A (p.Gly821=)
|
rs139809959
|
0.00204
|
NM_006563.5(KLF1):c.325C>T (p.Pro109Ser)
|
rs117351327
|
0.00179
|
NM_006363.6(SEC23B):c.1317G>T (p.Glu439Asp)
|
rs147410912
|
0.00176
|
NM_006363.6(SEC23B):c.993+10C>G
|
rs201948587
|
0.00173
|
NM_006563.5(KLF1):c.*22T>A
|
rs149022596
|
0.00172
|
NM_138477.4(CDAN1):c.386G>A (p.Arg129His)
|
rs12441516
|
0.00155
|
NM_138477.4(CDAN1):c.*722G>A
|
rs528323093
|
0.00145
|
NM_138477.4(CDAN1):c.2735C>T (p.Ala912Val)
|
rs143086237
|
0.00130
|
NM_138477.4(CDAN1):c.2164C>T (p.Arg722Cys)
|
rs140014115
|
0.00123
|
NM_032609.3(COX4I2):c.88G>C (p.Gly30Arg)
|
rs148327783
|
0.00103
|
NM_032609.3(COX4I2):c.175G>C (p.Ala59Pro)
|
rs147223483
|
0.00101
|
NM_006363.6(SEC23B):c.66C>T (p.Asn22=)
|
rs144542988
|
0.00098
|
NM_006563.5(KLF1):c.520G>T (p.Gly174Cys)
|
rs566095433
|
0.00089
|
NM_006363.6(SEC23B):c.1198T>C (p.Phe400Leu)
|
rs142461689
|
0.00084
|
NM_006563.5(KLF1):c.*254C>T
|
rs564687827
|
0.00081
|
NM_138477.4(CDAN1):c.2662G>C (p.Asp888His)
|
rs150657573
|
0.00076
|
NM_138477.4(CDAN1):c.2743T>C (p.Leu915=)
|
rs149472555
|
0.00061
|
NM_006563.5(KLF1):c.478G>A (p.Glu160Lys)
|
rs772655521
|
0.00060
|
NM_006563.5(KLF1):c.*367C>G
|
rs375799978
|
0.00059
|
NM_138477.4(CDAN1):c.1649T>C (p.Met550Thr)
|
rs201599639
|
0.00055
|
NM_138477.4(CDAN1):c.1705G>C (p.Gly569Arg)
|
rs201079951
|
0.00055
|
NM_138477.4(CDAN1):c.1860+5G>A
|
rs113313967
|
0.00051
|
NM_006363.5(SEC23B):c.-76G>C
|
rs373348732
|
0.00050
|
NM_006363.6(SEC23B):c.74C>A (p.Pro25His)
|
rs6045440
|
0.00050
|
NM_138477.4(CDAN1):c.982G>A (p.Val328Ile)
|
rs144448301
|
0.00050
|
NM_138477.4(CDAN1):c.3188C>T (p.Thr1063Met)
|
rs143857276
|
0.00048
|
NM_006363.6(SEC23B):c.1665+6T>C
|
rs371786580
|
0.00046
|
NM_138477.4(CDAN1):c.2868C>T (p.Ala956=)
|
rs150438471
|
0.00046
|
NM_138477.4(CDAN1):c.1368-6C>T
|
rs200290322
|
0.00045
|
NM_138477.4(CDAN1):c.2805-11T>A
|
rs200767055
|
0.00044
|
NM_006363.6(SEC23B):c.1233+4C>T
|
rs201883785
|
0.00040
|
NM_006363.6(SEC23B):c.519G>A (p.Val173=)
|
rs138314893
|
0.00040
|
NM_006563.5(KLF1):c.629C>G (p.Pro210Arg)
|
rs530729436
|
0.00040
|
NM_138477.4(CDAN1):c.2776G>A (p.Gly926Arg)
|
rs200401359
|
0.00039
|
NM_006563.5(KLF1):c.*454C>G
|
rs538356283
|
0.00035
|
NM_138477.4(CDAN1):c.2360C>T (p.Ala787Val)
|
rs138839403
|
0.00035
|
NM_138477.4(CDAN1):c.3556G>A (p.Gly1186Arg)
|
rs371901013
|
0.00033
|
NM_002049.4(GATA1):c.174G>A (p.Ala58=)
|
rs139614533
|
0.00031
|
NM_006363.6(SEC23B):c.358G>A (p.Val120Met)
|
rs372784283
|
0.00031
|
NM_138477.4(CDAN1):c.*223G>C
|
rs568387944
|
0.00031
|
NM_138477.4(CDAN1):c.3204+5G>A
|
rs201125492
|
0.00030
|
NM_138477.4(CDAN1):c.57G>C (p.Val19=)
|
rs150418267
|
0.00029
|
NM_006363.6(SEC23B):c.1335G>A (p.Thr445=)
|
rs146587686
|
0.00028
|
NM_006363.6(SEC23B):c.280-6T>C
|
rs370880370
|
0.00028
|
NM_006363.6(SEC23B):c.569G>A (p.Arg190Gln)
|
rs201160833
|
0.00028
|
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys)
|
rs121918221
|
0.00024
|
NM_006563.5(KLF1):c.541T>A (p.Tyr181Asn)
|
rs547785696
|
0.00024
|
NM_138477.4(CDAN1):c.2059C>T (p.Arg687Cys)
|
rs181448047
|
0.00024
|
NM_138477.4(CDAN1):c.2869-5C>T
|
rs370304543
|
0.00024
|
NM_138477.4(CDAN1):c.3524G>A (p.Cys1175Tyr)
|
rs192268080
|
0.00024
|
NM_006363.6(SEC23B):c.2268C>T (p.Asp756=)
|
rs530834583
|
0.00023
|
NM_138477.4(CDAN1):c.1058-11T>G
|
rs372671684
|
0.00023
|
NM_138477.4(CDAN1):c.188G>A (p.Arg63His)
|
rs772157159
|
0.00023
|
NM_138477.4(CDAN1):c.2088G>A (p.Leu696=)
|
rs148759214
|
0.00023
|
NM_138477.4(CDAN1):c.2837G>A (p.Arg946Gln)
|
rs142833783
|
0.00023
|
NM_138477.4(CDAN1):c.2008-8C>T
|
rs201733620
|
0.00022
|
NM_138477.4(CDAN1):c.256C>T (p.Pro86Ser)
|
rs543791953
|
0.00022
|
NM_006363.6(SEC23B):c.279+18A>T
|
rs769730409
|
0.00021
|
NM_006563.5(KLF1):c.-43G>A
|
rs372359976
|
0.00021
|
NM_138477.4(CDAN1):c.2016G>A (p.Pro672=)
|
rs371799686
|
0.00021
|
NM_006363.6(SEC23B):c.1809A>G (p.Ser603=)
|
rs139882548
|
0.00017
|
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp)
|
rs121918222
|
0.00017
|
NM_006363.6(SEC23B):c.1527G>A (p.Gln509=)
|
rs201943863
|
0.00016
|
NM_006563.5(KLF1):c.259C>G (p.Pro87Ala)
|
rs752204035
|
0.00016
|
NM_006563.5(KLF1):c.803G>T (p.Arg268Leu)
|
rs199685739
|
0.00014
|
NM_006363.6(SEC23B):c.1993-16G>A
|
rs375390042
|
0.00013
|
NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter)
|
rs121918226
|
0.00013
|
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu)
|
rs120074167
|
0.00013
|
NM_006363.6(SEC23B):c.*494T>C
|
rs561479544
|
0.00012
|
NM_006363.6(SEC23B):c.2031G>A (p.Met677Ile)
|
rs202187007
|
0.00012
|
NM_138477.4(CDAN1):c.-8C>T
|
rs764807565
|
0.00012
|
NM_138477.4(CDAN1):c.1822C>T (p.Pro608Ser)
|
rs146810840
|
0.00012
|
NM_138477.4(CDAN1):c.2801G>A (p.Arg934Gln)
|
rs199753863
|
0.00012
|
NM_138477.4(CDAN1):c.3267C>T (p.Leu1089=)
|
rs778218831
|
0.00012
|
NM_006363.6(SEC23B):c.835-11C>T
|
rs370797703
|
0.00011
|
NM_138477.4(CDAN1):c.1066G>A (p.Glu356Lys)
|
rs185031946
|
0.00011
|
NM_138477.4(CDAN1):c.2947+9C>A
|
rs372998688
|
0.00011
|
NM_138477.4(CDAN1):c.29G>A (p.Arg10Gln)
|
rs910234195
|
0.00011
|
NM_006563.5(KLF1):c.*311A>G
|
rs767532783
|
0.00010
|
NM_138477.4(CDAN1):c.2007+10C>T
|
rs372645598
|
0.00010
|
NM_138477.4(CDAN1):c.2197A>C (p.Ser733Arg)
|
rs150491625
|
0.00010
|
NM_138477.4(CDAN1):c.2541+14G>A
|
rs199780617
|
0.00010
|
NM_138477.4(CDAN1):c.3169C>T (p.Leu1057=)
|
rs61746359
|
0.00010
|
NM_006363.6(SEC23B):c.434A>G (p.Gln145Arg)
|
rs140466726
|
0.00009
|
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu)
|
rs80338694
|
0.00009
|
NM_138477.4(CDAN1):c.1766A>G (p.Asp589Gly)
|
rs148074362
|
0.00009
|
NM_006363.6(SEC23B):c.389T>C (p.Ile130Thr)
|
rs773290230
|
0.00008
|
NM_138477.4(CDAN1):c.2140C>T (p.Arg714Trp)
|
rs80338696
|
0.00008
|
NM_001367805.3(KIF23):c.2246C>T (p.Thr749Met)
|
rs535792693
|
0.00007
|
NM_006363.6(SEC23B):c.1636C>T (p.Arg546Trp)
|
rs147135162
|
0.00007
|
NM_006363.6(SEC23B):c.1884C>T (p.Tyr628=)
|
rs766473215
|
0.00007
|
NM_006563.5(KLF1):c.*185G>A
|
rs137908457
|
0.00007
|
NM_138477.4(CDAN1):c.2984G>A (p.Arg995His)
|
rs369919247
|
0.00007
|
NM_006363.5(SEC23B):c.-394A>C
|
rs561908920
|
0.00006
|
NM_032609.3(COX4I2):c.408G>A (p.Thr136=)
|
rs375116097
|
0.00006
|
NM_138477.4(CDAN1):c.1964C>T (p.Pro655Leu)
|
rs368192130
|
0.00006
|
NM_138477.4(CDAN1):c.2008-15C>T
|
rs774076440
|
0.00006
|
NM_138477.4(CDAN1):c.3316G>A (p.Glu1106Lys)
|
rs551196529
|
0.00006
|
NM_002049.4(GATA1):c.94G>A (p.Val32Ile)
|
rs782698349
|
0.00005
|
NM_006363.6(SEC23B):c.2101C>T (p.Arg701Cys)
|
rs201270568
|
0.00005
|
NM_006363.6(SEC23B):c.82C>T (p.Arg28Trp)
|
rs759146033
|
0.00005
|
NM_006563.5(KLF1):c.757G>A (p.Glu253Lys)
|
rs757861047
|
0.00005
|
NM_138477.4(CDAN1):c.114G>A (p.Ala38=)
|
rs560030704
|
0.00005
|
NM_138477.4(CDAN1):c.1839G>A (p.Gly613=)
|
rs148994527
|
0.00005
|
NM_138477.4(CDAN1):c.2406C>T (p.Ile802=)
|
rs145050561
|
0.00005
|
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu)
|
rs80338699
|
0.00005
|
NM_006363.6(SEC23B):c.*278T>C
|
rs564007974
|
0.00004
|
NM_006363.6(SEC23B):c.1489C>T (p.Arg497Cys)
|
rs727504145
|
0.00004
|
NM_006363.6(SEC23B):c.1491C>T (p.Arg497=)
|
rs778443189
|
0.00004
|
NM_006363.6(SEC23B):c.53G>A (p.Arg18His)
|
rs905074313
|
0.00004
|
NM_006363.6(SEC23B):c.916G>A (p.Asp306Asn)
|
rs763130110
|
0.00004
|
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter)
|
rs121918225
|
0.00004
|
NM_138477.4(CDAN1):c.*349A>G
|
rs886051156
|
0.00004
|
NM_138477.4(CDAN1):c.2361G>A (p.Ala787=)
|
rs377342875
|
0.00004
|
NM_138477.4(CDAN1):c.2577G>A (p.Pro859=)
|
rs368274213
|
0.00004
|
NM_138477.4(CDAN1):c.3046G>A (p.Ala1016Thr)
|
rs369116219
|
0.00004
|
NM_138477.4(CDAN1):c.3217C>T (p.Pro1073Ser)
|
rs776881666
|
0.00004
|
NM_138477.4(CDAN1):c.324C>T (p.Ser108=)
|
rs945794101
|
0.00004
|
NM_138477.4(CDAN1):c.3383C>T (p.Pro1128Leu)
|
rs752497862
|
0.00004
|
NM_138477.4(CDAN1):c.3559-10T>C
|
rs543020087
|
0.00004
|
NM_138477.4(CDAN1):c.527A>T (p.Glu176Val)
|
rs373153188
|
0.00004
|
NM_006363.6(SEC23B):c.2126A>G (p.Asn709Ser)
|
rs778348206
|
0.00003
|
NM_006363.6(SEC23B):c.2227C>T (p.Pro743Ser)
|
rs375734554
|
0.00003
|
NM_006363.6(SEC23B):c.367C>T (p.Arg123Ter)
|
rs775380378
|
0.00003
|
NM_006363.6(SEC23B):c.689+1G>A
|
rs398124226
|
0.00003
|
NM_006363.6(SEC23B):c.790C>T (p.Arg264Ter)
|
rs121918224
|
0.00003
|
NM_006563.5(KLF1):c.*263C>T
|
rs867980189
|
0.00003
|
NM_138477.4(CDAN1):c.1826A>G (p.Asn609Ser)
|
rs770414676
|
0.00003
|
NM_138477.4(CDAN1):c.2263-8C>T
|
rs757508400
|
0.00003
|
NM_138477.4(CDAN1):c.2516C>T (p.Pro839Leu)
|
rs772668700
|
0.00003
|
NM_138477.4(CDAN1):c.3128A>T (p.Asp1043Val)
|
rs80338698
|
0.00003
|
NM_138477.4(CDAN1):c.3142G>A (p.Val1048Ile)
|
rs745816995
|
0.00003
|
NM_138477.4(CDAN1):c.3261C>G (p.Ser1087=)
|
rs371567068
|
0.00003
|
NM_138477.4(CDAN1):c.3384G>A (p.Pro1128=)
|
rs141832648
|
0.00003
|
NM_138477.4(CDAN1):c.943+4A>T
|
rs771288663
|
0.00003
|
NM_001321759.2(CDIN1):c.707A>G (p.Tyr236Cys)
|
rs768744226
|
0.00002
|
NM_002049.4(GATA1):c.599-9C>T
|
rs1369447266
|
0.00002
|
NM_006363.6(SEC23B):c.1512-10G>T
|
rs770601333
|
0.00002
|
NM_006363.6(SEC23B):c.1603C>T (p.Arg535Ter)
|
rs201921350
|
0.00002
|
NM_006363.6(SEC23B):c.1648C>T (p.Arg550Ter)
|
rs199939108
|
0.00002
|
NM_006363.6(SEC23B):c.2008C>T (p.Arg670Cys)
|
rs752037101
|
0.00002
|
NM_006363.6(SEC23B):c.2009G>A (p.Arg670His)
|
rs757662443
|
0.00002
|
NM_006363.6(SEC23B):c.2129C>T (p.Thr710Met)
|
rs752664090
|
0.00002
|
NM_006363.6(SEC23B):c.2143A>G (p.Ser715Gly)
|
rs777442287
|
0.00002
|
NM_006363.6(SEC23B):c.328T>C (p.Leu110=)
|
rs368413002
|
0.00002
|
NM_138477.4(CDAN1):c.1004G>A (p.Arg335Gln)
|
rs766537047
|
0.00002
|
NM_138477.4(CDAN1):c.2007+11G>A
|
rs758515470
|
0.00002
|
NM_138477.4(CDAN1):c.2750T>G (p.Ile917Ser)
|
rs529452785
|
0.00002
|
NM_138477.4(CDAN1):c.2800C>T (p.Arg934Trp)
|
rs751799284
|
0.00002
|
NM_138477.4(CDAN1):c.3019C>T (p.Arg1007Trp)
|
rs142276684
|
0.00002
|
NM_138477.4(CDAN1):c.3043C>T (p.Arg1015Cys)
|
rs764025922
|
0.00002
|
NM_138477.4(CDAN1):c.3200G>A (p.Arg1067His)
|
rs146049960
|
0.00002
|
NM_138477.4(CDAN1):c.3590A>T (p.Asn1197Ile)
|
rs771780683
|
0.00002
|
NM_138477.4(CDAN1):c.701G>A (p.Ser234Asn)
|
rs755238710
|
0.00002
|
NM_138477.4(CDAN1):c.845G>A (p.Arg282Gln)
|
rs777323929
|
0.00002
|
NM_001319999.2(RACGAP1):c.1294C>T (p.Pro432Ser)
|
rs760038605
|
0.00001
|
NM_001321759.2(CDIN1):c.281A>C (p.Tyr94Ser)
|
rs587777101
|
0.00001
|
NM_002049.4(GATA1):c.647G>A (p.Arg216Gln)
|
rs104894809
|
0.00001
|
NM_006363.5(SEC23B):c.-80G>A
|
rs886056524
|
0.00001
|
NM_006363.6(SEC23B):c.*32T>G
|
rs879811598
|
0.00001
|
NM_006363.6(SEC23B):c.*448C>T
|
rs550932027
|
0.00001
|
NM_006363.6(SEC23B):c.*561A>C
|
rs778992067
|
0.00001
|
NM_006363.6(SEC23B):c.1062T>C (p.Leu354=)
|
rs758029042
|
0.00001
|
NM_006363.6(SEC23B):c.1234-11A>G
|
rs187699090
|
0.00001
|
NM_006363.6(SEC23B):c.123C>T (p.Leu41=)
|
rs554409729
|
0.00001
|
NM_006363.6(SEC23B):c.1299G>A (p.Pro433=)
|
rs767683935
|
0.00001
|
NM_006363.6(SEC23B):c.1380C>A (p.Gly460=)
|
rs201656419
|
0.00001
|
NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys)
|
rs780978419
|
0.00001
|
NM_006363.6(SEC23B):c.1400A>G (p.Asn467Ser)
|
rs150210442
|
0.00001
|
NM_006363.6(SEC23B):c.1413C>T (p.Thr471=)
|
rs900752773
|
0.00001
|
NM_006363.6(SEC23B):c.1475C>T (p.Thr492Ile)
|
rs757801115
|
0.00001
|
NM_006363.6(SEC23B):c.1483C>T (p.Arg495Cys)
|
rs768018657
|
0.00001
|
NM_006363.6(SEC23B):c.1486A>G (p.Ile496Val)
|
rs755836066
|
0.00001
|
NM_006363.6(SEC23B):c.1507C>T (p.Arg503Ter)
|
rs1568617456
|
0.00001
|
NM_006363.6(SEC23B):c.1569T>C (p.Ala523=)
|
rs921580564
|
0.00001
|
NM_006363.6(SEC23B):c.1571C>T (p.Ala524Val)
|
rs398124225
|
0.00001
|
NM_006363.6(SEC23B):c.1588C>T (p.Arg530Trp)
|
rs121918223
|
0.00001
|
NM_006363.6(SEC23B):c.1815C>T (p.Tyr605=)
|
rs779351917
|
0.00001
|
NM_006363.6(SEC23B):c.1992+12T>C
|
rs780986610
|
0.00001
|
NM_006363.6(SEC23B):c.2150del (p.Ala717fs)
|
rs1334741748
|
0.00001
|
NM_006363.6(SEC23B):c.221+3A>G
|
rs777858803
|
0.00001
|
NM_006363.6(SEC23B):c.236G>A (p.Arg79Gln)
|
rs370537015
|
0.00001
|
NM_006363.6(SEC23B):c.301A>G (p.Ile101Val)
|
rs754320262
|
0.00001
|
NM_006363.6(SEC23B):c.711G>A (p.Lys237=)
|
rs773579451
|
0.00001
|
NM_006363.6(SEC23B):c.773A>G (p.Gln258Arg)
|
rs534770840
|
0.00001
|
NM_006363.6(SEC23B):c.890C>T (p.Thr297Ile)
|
rs1363436677
|
0.00001
|
NM_006563.5(KLF1):c.*2C>T
|
rs778904219
|
0.00001
|
NM_006563.5(KLF1):c.*312G>C
|
rs1970414362
|
0.00001
|
NM_006563.5(KLF1):c.255G>A (p.Pro85=)
|
rs886054238
|
0.00001
|
NM_006563.5(KLF1):c.286C>T (p.Leu96=)
|
rs748056490
|
0.00001
|
NM_006563.5(KLF1):c.353G>A (p.Gly118Asp)
|
rs886054237
|
0.00001
|
NM_006563.5(KLF1):c.409C>T (p.Arg137Cys)
|
rs111888566
|
0.00001
|
NM_006563.5(KLF1):c.606G>A (p.Gly202=)
|
rs886054236
|
0.00001
|
NM_006563.5(KLF1):c.690C>T (p.Ala230=)
|
rs775669419
|
0.00001
|
NM_138477.4(CDAN1):c.*58G>A
|
rs567117839
|
0.00001
|
NM_138477.4(CDAN1):c.*753C>T
|
rs1011188304
|
0.00001
|
NM_138477.4(CDAN1):c.-4C>G
|
rs776319103
|
0.00001
|
NM_138477.4(CDAN1):c.1203C>T (p.Phe401=)
|
rs2061657466
|
0.00001
|
NM_138477.4(CDAN1):c.1242G>C (p.Glu414Asp)
|
rs1470472984
|
0.00001
|
NM_138477.4(CDAN1):c.1273C>G (p.Pro425Ala)
|
rs191247450
|
0.00001
|
NM_138477.4(CDAN1):c.1583C>T (p.Pro528Leu)
|
rs755117251
|
0.00001
|
NM_138477.4(CDAN1):c.1796A>G (p.Asn599Ser)
|
rs120074166
|
0.00001
|
NM_138477.4(CDAN1):c.2073C>T (p.Leu691=)
|
rs199776068
|
0.00001
|
NM_138477.4(CDAN1):c.2174G>A (p.Arg725Gln)
|
rs962870388
|
0.00001
|
NM_138477.4(CDAN1):c.2262+10G>A
|
rs1338899431
|
0.00001
|
NM_138477.4(CDAN1):c.2539C>T (p.Gln847Ter)
|
rs144546360
|
0.00001
|
NM_138477.4(CDAN1):c.2576C>T (p.Pro859Leu)
|
rs370476233
|
0.00001
|
NM_138477.4(CDAN1):c.2587C>T (p.Arg863Cys)
|
rs768892869
|
0.00001
|
NM_138477.4(CDAN1):c.2725G>A (p.Gly909Arg)
|
rs745824109
|
0.00001
|
NM_138477.4(CDAN1):c.2869-4G>A
|
rs749321986
|
0.00001
|
NM_138477.4(CDAN1):c.2872C>T (p.Leu958=)
|
rs764432820
|
0.00001
|
NM_138477.4(CDAN1):c.2937C>T (p.Ala979=)
|
rs781767396
|
0.00001
|
NM_138477.4(CDAN1):c.3268G>C (p.Val1090Leu)
|
rs559053820
|
0.00001
|
NM_138477.4(CDAN1):c.3559-11A>G
|
rs375128684
|
0.00001
|
NM_138477.4(CDAN1):c.3648G>A (p.Val1216=)
|
rs138934554
|
0.00001
|
NM_138477.4(CDAN1):c.392G>A (p.Arg131His)
|
rs1165157914
|
0.00001
|
NM_138477.4(CDAN1):c.569+9C>G
|
rs778283367
|
0.00001
|
NC_000020.10:g.(?_18449649)_(18541384_?)dup
|
|
|
NC_000020.10:g.(?_18516277)_(18516406_?)del
|
|
|
NC_000020.11:g.(?_18512225)_(18515736_?)del
|
|
|
NC_000020.11:g.18507416A>G
|
|
|
NC_000020.11:g.18512225_18512228del
|
|
|
NM_000159.4(GCDH):c.91+5G>T
|
rs952356983
|
|
NM_001319999.2(RACGAP1):c.1187T>A (p.Leu396Gln)
|
rs1948102480
|
|
NM_001319999.2(RACGAP1):c.658A>G (p.Thr220Ala)
|
|
|
NM_001321759.2(CDIN1):c.281A>G (p.Tyr94Cys)
|
rs587777101
|
|
NM_001321759.2(CDIN1):c.298G>T (p.Ala100Ser)
|
|
|
NM_001321759.2(CDIN1):c.533T>A (p.Leu178Gln)
|
rs587777100
|
|
NM_001321759.2(CDIN1):c.59C>G (p.Pro20Arg)
|
rs1595696464
|
|
NM_001321759.2(CDIN1):c.620G>A (p.Gly207Glu)
|
|
|
NM_001321759.2(CDIN1):c.689A>C (p.His230Pro)
|
rs1595503440
|
|
NM_001321759.2(CDIN1):c.812C>A (p.Thr271Lys)
|
|
|
NM_001321759.2(CDIN1):c.98C>T (p.Pro33Leu)
|
|
|
NM_001367805.3(KIF23):c.1228C>G (p.Leu410Val)
|
|
|
NM_001367805.3(KIF23):c.1358C>G (p.Ala453Gly)
|
|
|
NM_001367805.3(KIF23):c.1400G>A (p.Arg467Lys)
|
|
|
NM_001367805.3(KIF23):c.1664A>G (p.Gln555Arg)
|
|
|
NM_001367805.3(KIF23):c.1801C>T (p.Arg601Cys)
|
|
|
NM_001367805.3(KIF23):c.2089G>A (p.Val697Ile)
|
rs376569877
|
|
NM_001367805.3(KIF23):c.2089G>C (p.Val697Leu)
|
|
|
NM_001367805.3(KIF23):c.211A>G (p.Thr71Ala)
|
|
|
NM_001367805.3(KIF23):c.2222C>T (p.Ser741Leu)
|
|
|
NM_001367805.3(KIF23):c.2237A>C (p.Lys746Thr)
|
|
|
NM_001367805.3(KIF23):c.2242C>T (p.Pro748Ser)
|
|
|
NM_001367805.3(KIF23):c.2334A>T (p.Arg778Ser)
|
|
|
NM_001367805.3(KIF23):c.2446G>A (p.Ala816Thr)
|
|
|
NM_001367805.3(KIF23):c.2452C>T (p.Pro818Ser)
|
|
|
NM_001367805.3(KIF23):c.2479C>T (p.Arg827Cys)
|
|
|
NM_001367805.3(KIF23):c.2482T>A (p.Ser828Thr)
|
|
|
NM_001367805.3(KIF23):c.2501T>C (p.Val834Ala)
|
|
|
NM_001367805.3(KIF23):c.2789C>G (p.Pro930Arg)
|
rs2140422904
|
|
NM_001367805.3(KIF23):c.2875del (p.Leu959fs)
|
rs2140424959
|
|
NM_001367805.3(KIF23):c.497A>C (p.Glu166Ala)
|
|
|
NM_001367805.3(KIF23):c.537G>A (p.Met179Ile)
|
|
|
NM_001367805.3(KIF23):c.560G>A (p.Ser187Asn)
|
|
|
NM_001367805.3(KIF23):c.844G>A (p.Val282Ile)
|
|
|
NM_001367805.3(KIF23):c.952G>T (p.Val318Leu)
|
|
|
NM_001367805.3(KIF23):c.999C>A (p.Asp333Glu)
|
|
|
NM_002049.4(GATA1):c.1240T>C (p.Ter414Arg)
|
rs587776456
|
|
NM_002049.4(GATA1):c.170_173dup (p.Ala59fs)
|
|
|
NM_002049.4(GATA1):c.220+1del
|
rs587776453
|
|
NM_002049.4(GATA1):c.220G>C (p.Val74Leu)
|
rs587776452
|
|
NM_002049.4(GATA1):c.2T>C (p.Met1Thr)
|
rs587776451
|
|
NM_002049.4(GATA1):c.35C>G (p.Ser12Ter)
|
rs2062673416
|
|
NM_002049.4(GATA1):c.613G>A (p.Val205Met)
|
rs104894815
|
|
NM_002049.4(GATA1):c.622G>C (p.Gly208Arg)
|
rs587776454
|
|
NM_002049.4(GATA1):c.622_623delinsTC (p.Gly208Ser)
|
rs137852312
|
|
NM_002049.4(GATA1):c.646C>T (p.Arg216Trp)
|
rs387907207
|
|
NM_002049.4(GATA1):c.652G>A (p.Asp218Asn)
|
rs104894808
|
|
NM_002049.4(GATA1):c.652G>T (p.Asp218Tyr)
|
rs104894808
|
|
NM_002049.4(GATA1):c.653A>G (p.Asp218Gly)
|
rs104894816
|
|
NM_002049.4(GATA1):c.679G>A (p.Ala227Thr)
|
|
|
NM_002049.4(GATA1):c.865C>T (p.His289Tyr)
|
|
|
NM_002049.4(GATA1):c.886A>C (p.Thr296Pro)
|
|
|
NM_002049.4(GATA1):c.893G>A (p.Arg298Gln)
|
rs2147307511
|
|
NM_002049.4(GATA1):c.944A>G (p.Lys315Arg)
|
rs782326935
|
|
NM_006363.5(SEC23B):c.-283C>T
|
rs886056522
|
|
NM_006363.5(SEC23B):c.-301G>A
|
rs886056521
|
|
NM_006363.5(SEC23B):c.-94C>G
|
rs886056523
|
|
NM_006363.6(SEC23B):c.*178C>T
|
rs2060486772
|
|
NM_006363.6(SEC23B):c.*292T>G
|
rs886056526
|
|
NM_006363.6(SEC23B):c.*308A>G
|
rs2060487651
|
|
NM_006363.6(SEC23B):c.*318dup
|
rs397793825
|
|
NM_006363.6(SEC23B):c.*493A>G
|
rs886056527
|
|
NM_006363.6(SEC23B):c.*9_*10del
|
rs142180765
|
|
NM_006363.6(SEC23B):c.-14-1G>A
|
rs967988810
|
|
NM_006363.6(SEC23B):c.-8T>C
|
rs766083236
|
|
NM_006363.6(SEC23B):c.1015C>T (p.Arg339Ter)
|
|
|
NM_006363.6(SEC23B):c.1020A>G (p.Thr340=)
|
|
|
NM_006363.6(SEC23B):c.1027A>G (p.Asn343Asp)
|
|
|
NM_006363.6(SEC23B):c.1029T>C (p.Asn343=)
|
|
|
NM_006363.6(SEC23B):c.1043A>G (p.Asp348Gly)
|
rs2060144762
|
|
NM_006363.6(SEC23B):c.1044T>C (p.Asp348=)
|
|
|
NM_006363.6(SEC23B):c.1053T>C (p.Ala351=)
|
|
|
NM_006363.6(SEC23B):c.1054T>C (p.Cys352Arg)
|
|
|
NM_006363.6(SEC23B):c.105T>C (p.Val35=)
|
|
|
NM_006363.6(SEC23B):c.1068A>G (p.Gln356=)
|
|
|
NM_006363.6(SEC23B):c.1071T>C (p.Thr357=)
|
|
|
NM_006363.6(SEC23B):c.1078T>C (p.Leu360=)
|
|
|
NM_006363.6(SEC23B):c.1079del (p.Leu360fs)
|
rs1600244935
|
|
NM_006363.6(SEC23B):c.1107T>A (p.Thr369=)
|
|
|
NM_006363.6(SEC23B):c.1109+10C>G
|
|
|
NM_006363.6(SEC23B):c.1109+11A>C
|
|
|
NM_006363.6(SEC23B):c.1109+19C>A
|
|
|
NM_006363.6(SEC23B):c.1109+1G>C
|
|
|
NM_006363.6(SEC23B):c.1109+7T>C
|
|
|
NM_006363.6(SEC23B):c.1110-13dup
|
|
|
NM_006363.6(SEC23B):c.1110-20A>T
|
|
|
NM_006363.6(SEC23B):c.1115A>G (p.Tyr372Cys)
|
|
|
NM_006363.6(SEC23B):c.1115A>T (p.Tyr372Phe)
|
|
|
NM_006363.6(SEC23B):c.1129_1130del (p.Asp377fs)
|
|
|
NM_006363.6(SEC23B):c.113del (p.Leu38fs)
|
|
|
NM_006363.6(SEC23B):c.1144T>A (p.Ser382Thr)
|
|
|
NM_006363.6(SEC23B):c.1179T>C (p.Thr393=)
|
|
|
NM_006363.6(SEC23B):c.117T>C (p.Ala39=)
|
|
|
NM_006363.6(SEC23B):c.1191T>C (p.Asn397=)
|
|
|
NM_006363.6(SEC23B):c.1201C>T (p.Arg401Ter)
|
rs1403456625
|
|
NM_006363.6(SEC23B):c.1217C>T (p.Ala406Val)
|
|
|
NM_006363.6(SEC23B):c.1222T>C (p.Leu408=)
|
|
|
NM_006363.6(SEC23B):c.1227C>T (p.Asp409=)
|
|
|
NM_006363.6(SEC23B):c.1233+10A>C
|
|
|
NM_006363.6(SEC23B):c.1233+12T>A
|
|
|
NM_006363.6(SEC23B):c.1233+15T>A
|
|
|
NM_006363.6(SEC23B):c.1233+25dup
|
rs57738665
|
|
NM_006363.6(SEC23B):c.1233+8_1233+9insG
|
|
|
NM_006363.6(SEC23B):c.1233_1233+1dup
|
|
|
NM_006363.6(SEC23B):c.1234-13A>C
|
|
|
NM_006363.6(SEC23B):c.1234-13A>G
|
|
|
NM_006363.6(SEC23B):c.1234-13A>T
|
|
|
NM_006363.6(SEC23B):c.1234-14_1234-13del
|
rs765849514
|
|
NM_006363.6(SEC23B):c.1234-16C>A
|
|
|
NM_006363.6(SEC23B):c.1234-18G>A
|
|
|
NM_006363.6(SEC23B):c.1234-20C>T
|
|
|
NM_006363.6(SEC23B):c.1242G>A (p.Arg414=)
|
|
|
NM_006363.6(SEC23B):c.1243del (p.Glu415fs)
|
|
|
NM_006363.6(SEC23B):c.1244A>G (p.Glu415Gly)
|
|
|
NM_006363.6(SEC23B):c.1275C>T (p.Cys425=)
|
|
|
NM_006363.6(SEC23B):c.1314+12A>T
|
|
|
NM_006363.6(SEC23B):c.1314+16C>T
|
|
|
NM_006363.6(SEC23B):c.1314+18A>G
|
|
|
NM_006363.6(SEC23B):c.1314+1G>A
|
|
|
NM_006363.6(SEC23B):c.1314_1314+10del
|
|
|
NM_006363.6(SEC23B):c.1315-16C>T
|
|
|
NM_006363.6(SEC23B):c.1315-4C>G
|
|
|
NM_006363.6(SEC23B):c.1315-5C>T
|
|
|
NM_006363.6(SEC23B):c.1315-6C>T
|
|
|
NM_006363.6(SEC23B):c.1315-7C>T
|
|
|
NM_006363.6(SEC23B):c.1315-8A>G
|
|
|
NM_006363.6(SEC23B):c.1326T>C (p.Val442=)
|
|
|
NM_006363.6(SEC23B):c.1332C>T (p.Gly444=)
|
|
|
NM_006363.6(SEC23B):c.1335G>T (p.Thr445=)
|
|
|
NM_006363.6(SEC23B):c.1341G>A (p.Gln447=)
|
|
|
NM_006363.6(SEC23B):c.1347A>G (p.Lys449=)
|
|
|
NM_006363.6(SEC23B):c.1374A>C (p.Thr458=)
|
|
|
NM_006363.6(SEC23B):c.1401T>C (p.Asn467=)
|
|
|
NM_006363.6(SEC23B):c.1402C>T (p.Gln468Ter)
|
|
|
NM_006363.6(SEC23B):c.1404+17C>T
|
|
|
NM_006363.6(SEC23B):c.1404+20A>G
|
|
|
NM_006363.6(SEC23B):c.1404+5G>A
|
rs1555789463
|
|
NM_006363.6(SEC23B):c.1405-15C>T
|
|
|
NM_006363.6(SEC23B):c.1415C>T (p.Pro472Leu)
|
rs752548887
|
|
NM_006363.6(SEC23B):c.1416G>A (p.Pro472=)
|
|
|
NM_006363.6(SEC23B):c.1416G>C (p.Pro472=)
|
rs748683808
|
|
NM_006363.6(SEC23B):c.1422C>T (p.Pro474=)
|
|
|
NM_006363.6(SEC23B):c.1425A>G (p.Gln475=)
|
|
|
NM_006363.6(SEC23B):c.1443C>T (p.Ile481=)
|
|
|
NM_006363.6(SEC23B):c.1455G>A (p.Thr485=)
|
|
|
NM_006363.6(SEC23B):c.1455G>C (p.Thr485=)
|
|
|
NM_006363.6(SEC23B):c.146C>T (p.Pro49Leu)
|
|
|
NM_006363.6(SEC23B):c.1479G>A (p.Gln493=)
|
|
|
NM_006363.6(SEC23B):c.1485C>T (p.Arg495=)
|
|
|
NM_006363.6(SEC23B):c.1490G>T (p.Arg497Leu)
|
|
|
NM_006363.6(SEC23B):c.1504G>A (p.Ala502Thr)
|
|
|
NM_006363.6(SEC23B):c.1506C>G (p.Ala502=)
|
|
|
NM_006363.6(SEC23B):c.1511+18C>T
|
|
|
NM_006363.6(SEC23B):c.1511+21_1511+24del
|
|
|
NM_006363.6(SEC23B):c.1511+2_1511+5del
|
|
|
NM_006363.6(SEC23B):c.1512-11G>A
|
|
|
NM_006363.6(SEC23B):c.1512-16A>G
|
|
|
NM_006363.6(SEC23B):c.1512-19C>A
|
|
|
NM_006363.6(SEC23B):c.1512-5G>A
|
|
|
NM_006363.6(SEC23B):c.1512-7T>C
|
|
|
NM_006363.6(SEC23B):c.1521T>C (p.Asp507=)
|
|
|
NM_006363.6(SEC23B):c.1536C>A (p.Leu512=)
|
|
|
NM_006363.6(SEC23B):c.1539G>A (p.Arg513=)
|
|
|
NM_006363.6(SEC23B):c.153A>T (p.Leu51=)
|
|
|
NM_006363.6(SEC23B):c.1555T>C (p.Phe519Leu)
|
|
|
NM_006363.6(SEC23B):c.1563G>A (p.Gln521=)
|
|
|
NM_006363.6(SEC23B):c.1578G>A (p.Val526=)
|
|
|
NM_006363.6(SEC23B):c.1580T>C (p.Leu527Ser)
|
|
|
NM_006363.6(SEC23B):c.1589G>A (p.Arg530Gln)
|
|
|
NM_006363.6(SEC23B):c.1596G>C (p.Gly532=)
|
|
|
NM_006363.6(SEC23B):c.1607C>A (p.Ala536Glu)
|
rs535355543
|
|
NM_006363.6(SEC23B):c.1608G>A (p.Ala536=)
|
|
|
NM_006363.6(SEC23B):c.1611G>A (p.Glu537=)
|
|
|
NM_006363.6(SEC23B):c.1626C>G (p.Pro542=)
|
|
|
NM_006363.6(SEC23B):c.1626C>T (p.Pro542=)
|
|
|
NM_006363.6(SEC23B):c.162A>G (p.Val54=)
|
|
|
NM_006363.6(SEC23B):c.1632G>C (p.Val544=)
|
|
|
NM_006363.6(SEC23B):c.1637G>T (p.Arg546Leu)
|
|
|
NM_006363.6(SEC23B):c.1638G>A (p.Arg546=)
|
rs138623580
|
|
NM_006363.6(SEC23B):c.1638G>C (p.Arg546=)
|
|
|
NM_006363.6(SEC23B):c.164A>C (p.Gln55Pro)
|
|
|
NM_006363.6(SEC23B):c.1653A>G (p.Gln551=)
|
|
|
NM_006363.6(SEC23B):c.1656C>T (p.Leu552=)
|
|
|
NM_006363.6(SEC23B):c.165A>G (p.Gln55=)
|
|
|
NM_006363.6(SEC23B):c.1660C>A (p.Arg554=)
|
|
|
NM_006363.6(SEC23B):c.1660C>T (p.Arg554Ter)
|
|
|
NM_006363.6(SEC23B):c.1660del (p.Arg554fs)
|
|
|
NM_006363.6(SEC23B):c.1665+14A>G
|
|
|
NM_006363.6(SEC23B):c.1665+17G>A
|
|
|
NM_006363.6(SEC23B):c.1665+20A>T
|
|
|
NM_006363.6(SEC23B):c.1665+4A>G
|
|
|
NM_006363.6(SEC23B):c.1666-16T>G
|
|
|
NM_006363.6(SEC23B):c.1666-3T>C
|
|
|
NM_006363.6(SEC23B):c.1677T>C (p.Phe559=)
|
|
|
NM_006363.6(SEC23B):c.1680A>G (p.Gly560=)
|
|
|
NM_006363.6(SEC23B):c.1686T>C (p.Tyr562=)
|
|
|
NM_006363.6(SEC23B):c.1710dup (p.Arg571Ter)
|
|
|
NM_006363.6(SEC23B):c.1713G>A (p.Arg571=)
|
|
|
NM_006363.6(SEC23B):c.1719A>G (p.Ser573=)
|
|
|
NM_006363.6(SEC23B):c.1734A>G (p.Leu578=)
|
|
|
NM_006363.6(SEC23B):c.1741C>T (p.Gln581Ter)
|
|
|
NM_006363.6(SEC23B):c.1743+20A>G
|
|
|
NM_006363.6(SEC23B):c.1744-10G>C
|
|
|
NM_006363.6(SEC23B):c.1744-14del
|
|
|
NM_006363.6(SEC23B):c.1744-16T>C
|
|
|
NM_006363.6(SEC23B):c.1744-17G>A
|
|
|
NM_006363.6(SEC23B):c.1744-18C>T
|
|
|
NM_006363.6(SEC23B):c.1753C>T (p.His585Tyr)
|
|
|
NM_006363.6(SEC23B):c.1764A>G (p.Arg588=)
|
|
|
NM_006363.6(SEC23B):c.1803G>A (p.Glu601=)
|
|
|
NM_006363.6(SEC23B):c.1806G>A (p.Ser602=)
|
|
|
NM_006363.6(SEC23B):c.1816A>C (p.Arg606=)
|
|
|
NM_006363.6(SEC23B):c.1818A>G (p.Arg606=)
|
|
|
NM_006363.6(SEC23B):c.1831del (p.Arg611fs)
|
|
|
NM_006363.6(SEC23B):c.183C>T (p.Cys61=)
|
|
|
NM_006363.6(SEC23B):c.1840C>T (p.Leu614=)
|
|
|
NM_006363.6(SEC23B):c.1857C>G (p.Ile619Met)
|
|
|
NM_006363.6(SEC23B):c.1866G>A (p.Gln622=)
|
|
|
NM_006363.6(SEC23B):c.1875C>G (p.Leu625=)
|
|
|
NM_006363.6(SEC23B):c.1881T>A (p.Ser627=)
|
|
|
NM_006363.6(SEC23B):c.1905+10dup
|
|
|
NM_006363.6(SEC23B):c.1905+12C>T
|
|
|
NM_006363.6(SEC23B):c.1905+16A>G
|
|
|
NM_006363.6(SEC23B):c.1905+1G>A
|
|
|
NM_006363.6(SEC23B):c.1905+8T>C
|
|
|
NM_006363.6(SEC23B):c.1905+8T>G
|
|
|
NM_006363.6(SEC23B):c.1905+9C>A
|
|
|
NM_006363.6(SEC23B):c.1906-11T>C
|
|
|
NM_006363.6(SEC23B):c.1906-12_1906-9del
|
|
|
NM_006363.6(SEC23B):c.1906-18C>G
|
|
|
NM_006363.6(SEC23B):c.1906-18C>T
|
|
|
NM_006363.6(SEC23B):c.1906-18_1906-14del
|
|
|
NM_006363.6(SEC23B):c.1906-19TC[2]
|
|
|
NM_006363.6(SEC23B):c.1906-19TC[3]
|
|
|
NM_006363.6(SEC23B):c.1906-7T>C
|
|
|
NM_006363.6(SEC23B):c.1906-8_1906-7del
|
|
|
NM_006363.6(SEC23B):c.1909del (p.Val637fs)
|
|
|
NM_006363.6(SEC23B):c.1932T>C (p.Ile644=)
|
|
|
NM_006363.6(SEC23B):c.195T>C (p.Thr65=)
|
|
|
NM_006363.6(SEC23B):c.1962T>G (p.Thr654=)
|
|
|
NM_006363.6(SEC23B):c.1989dup (p.Glu664Ter)
|
|
|
NM_006363.6(SEC23B):c.1992+14ATTA[2]
|
|
|
NM_006363.6(SEC23B):c.1992+15_1992+17del
|
|
|
NM_006363.6(SEC23B):c.1992+17A>G
|
|
|
NM_006363.6(SEC23B):c.1992+8G>A
|
|
|
NM_006363.6(SEC23B):c.1992+8_1992+10del
|
|
|
NM_006363.6(SEC23B):c.1993-18T>C
|
|
|
NM_006363.6(SEC23B):c.1993-20G>A
|
|
|
NM_006363.6(SEC23B):c.1993-6G>C
|
|
|
NM_006363.6(SEC23B):c.1993-7T>C
|
|
|
NM_006363.6(SEC23B):c.2001C>T (p.Ala667=)
|
|
|
NM_006363.6(SEC23B):c.2011A>G (p.Lys671Glu)
|
|
|
NM_006363.6(SEC23B):c.202G>A (p.Ala68Thr)
|
rs2059977778
|
|
NM_006363.6(SEC23B):c.2034C>T (p.Pro678=)
|
|
|
NM_006363.6(SEC23B):c.2040T>C (p.Tyr680=)
|
|
|
NM_006363.6(SEC23B):c.2055C>T (p.His685=)
|
|
|
NM_006363.6(SEC23B):c.2073G>A (p.Leu691=)
|
|
|
NM_006363.6(SEC23B):c.208C>T (p.Leu70Phe)
|
|
|
NM_006363.6(SEC23B):c.2094G>T (p.Leu698=)
|
|
|
NM_006363.6(SEC23B):c.2109G>A (p.Pro703=)
|
|
|
NM_006363.6(SEC23B):c.211A>C (p.Asn71His)
|
rs2059977897
|
|
NM_006363.6(SEC23B):c.2122A>G (p.Ile708Val)
|
|
|
NM_006363.6(SEC23B):c.2130G>A (p.Thr710=)
|
|
|
NM_006363.6(SEC23B):c.2139A>T (p.Gly713=)
|
|
|
NM_006363.6(SEC23B):c.2148+10C>T
|
|
|
NM_006363.6(SEC23B):c.2148+17C>G
|
|
|
NM_006363.6(SEC23B):c.2148+7G>A
|
|
|
NM_006363.6(SEC23B):c.2149-12T>C
|
|
|
NM_006363.6(SEC23B):c.2149-13G>C
|
|
|
NM_006363.6(SEC23B):c.2149-19G>T
|
|
|
NM_006363.6(SEC23B):c.2149-21TTG[4]
|
rs746737770
|
|
NM_006363.6(SEC23B):c.2151T>G (p.Ala717=)
|
|
|
NM_006363.6(SEC23B):c.2152C>T (p.Arg718Ter)
|
|
|
NM_006363.6(SEC23B):c.2166C>G (p.Ser722=)
|
|
|
NM_006363.6(SEC23B):c.216A>G (p.Pro72=)
|
|
|
NM_006363.6(SEC23B):c.2178A>C (p.Pro726=)
|
|
|
NM_006363.6(SEC23B):c.2178A>G (p.Pro726=)
|
|
|
NM_006363.6(SEC23B):c.2181T>C (p.Ser727=)
|
|
|
NM_006363.6(SEC23B):c.2190_2191dup (p.Asn731fs)
|
|
|
NM_006363.6(SEC23B):c.2199G>C (p.Leu733=)
|
rs1600281875
|
|
NM_006363.6(SEC23B):c.2202T>A (p.Tyr734Ter)
|
|
|
NM_006363.6(SEC23B):c.2202T>C (p.Tyr734=)
|
|
|
NM_006363.6(SEC23B):c.2205T>C (p.Ala735=)
|
|
|
NM_006363.6(SEC23B):c.221+10C>G
|
|
|
NM_006363.6(SEC23B):c.221+163A>G
|
|
|
NM_006363.6(SEC23B):c.221+1G>A
|
|
|
NM_006363.6(SEC23B):c.221+31A>T
|
|
|
NM_006363.6(SEC23B):c.2212C>T (p.Gln738Ter)
|
|
|
NM_006363.6(SEC23B):c.2214+10C>A
|
|
|
NM_006363.6(SEC23B):c.2214+13_2214+14del
|
|
|
NM_006363.6(SEC23B):c.2214+14del
|
|
|
NM_006363.6(SEC23B):c.2214+15G>A
|
|
|
NM_006363.6(SEC23B):c.2214+15G>T
|
|
|
NM_006363.6(SEC23B):c.2215-18T>C
|
|
|
NM_006363.6(SEC23B):c.2215-19C>T
|
|
|
NM_006363.6(SEC23B):c.2215-9A>G
|
|
|
NM_006363.6(SEC23B):c.221G>A (p.Cys74Tyr)
|
|
|
NM_006363.6(SEC23B):c.222-15T>A
|
|
|
NM_006363.6(SEC23B):c.222-17_222-15del
|
|
|
NM_006363.6(SEC23B):c.222-19_222-17del
|
|
|
NM_006363.6(SEC23B):c.222-4A>G
|
|
|
NM_006363.6(SEC23B):c.222-7C>G
|
|
|
NM_006363.6(SEC23B):c.2220T>C (p.Thr740=)
|
|
|
NM_006363.6(SEC23B):c.2233C>T (p.Leu745=)
|
|
|
NM_006363.6(SEC23B):c.2237C>A (p.Thr746Asn)
|
rs1600288964
|
|
NM_006363.6(SEC23B):c.2241T>C (p.Asp747=)
|
|
|
NM_006363.6(SEC23B):c.2242G>A (p.Asp748Asn)
|
rs2122200225
|
|
NM_006363.6(SEC23B):c.2242G>C (p.Asp748His)
|
|
|
NM_006363.6(SEC23B):c.2244T>C (p.Asp748=)
|
rs748290215
|
|
NM_006363.6(SEC23B):c.2247T>C (p.Val749=)
|
|
|
NM_006363.6(SEC23B):c.2250C>T (p.Ser750=)
|
|
|
NM_006363.6(SEC23B):c.225G>A (p.Gln75=)
|
|
|
NM_006363.6(SEC23B):c.2262del (p.Phe754fs)
|
|
|
NM_006363.6(SEC23B):c.2286T>C (p.Ala762=)
|
|
|
NM_006363.6(SEC23B):c.2289C>T (p.Val763=)
|
|
|
NM_006363.6(SEC23B):c.2294G>C (p.Ser765Thr)
|
|
|
NM_006363.6(SEC23B):c.235C>T (p.Arg79Ter)
|
|
|
NM_006363.6(SEC23B):c.246T>C (p.Leu82=)
|
|
|
NM_006363.6(SEC23B):c.249G>A (p.Trp83Ter)
|
|
|
NM_006363.6(SEC23B):c.24C>A (p.Ile8=)
|
|
|
NM_006363.6(SEC23B):c.24C>T (p.Ile8=)
|
|
|
NM_006363.6(SEC23B):c.251C>T (p.Ala84Val)
|
|
|
NM_006363.6(SEC23B):c.279+13T>A
|
|
|
NM_006363.6(SEC23B):c.279+17T>A
|
|
|
NM_006363.6(SEC23B):c.279+1G>A
|
|
|
NM_006363.6(SEC23B):c.280-10T>C
|
|
|
NM_006363.6(SEC23B):c.280-11C>T
|
|
|
NM_006363.6(SEC23B):c.280-12C>G
|
|
|
NM_006363.6(SEC23B):c.280-12C>T
|
|
|
NM_006363.6(SEC23B):c.280-13T>G
|
|
|
NM_006363.6(SEC23B):c.280-20_280-14del
|
|
|
NM_006363.6(SEC23B):c.280-8_280-6del
|
|
|
NM_006363.6(SEC23B):c.294T>C (p.Tyr98=)
|
|
|
NM_006363.6(SEC23B):c.300C>T (p.Gly100=)
|
|
|
NM_006363.6(SEC23B):c.318A>G (p.Gln106=)
|
|
|
NM_006363.6(SEC23B):c.324C>T (p.Ala108=)
|
|
|
NM_006363.6(SEC23B):c.337del (p.Gln113fs)
|
|
|
NM_006363.6(SEC23B):c.338A>C (p.Gln113Pro)
|
|
|
NM_006363.6(SEC23B):c.357C>T (p.Tyr119=)
|
|
|
NM_006363.6(SEC23B):c.366+11T>C
|
|
|
NM_006363.6(SEC23B):c.366+13T>A
|
|
|
NM_006363.6(SEC23B):c.366+15G>C
|
|
|
NM_006363.6(SEC23B):c.366+17G>A
|
|
|
NM_006363.6(SEC23B):c.366+18C>T
|
|
|
NM_006363.6(SEC23B):c.366+1G>A
|
|
|
NM_006363.6(SEC23B):c.367-1G>T
|
|
|
NM_006363.6(SEC23B):c.367-8G>C
|
|
|
NM_006363.6(SEC23B):c.369A>T (p.Arg123=)
|
|
|
NM_006363.6(SEC23B):c.375T>C (p.Ala125=)
|
|
|
NM_006363.6(SEC23B):c.408C>T (p.Asp136=)
|
|
|
NM_006363.6(SEC23B):c.414C>T (p.Cys138=)
|
|
|
NM_006363.6(SEC23B):c.436G>A (p.Ala146Thr)
|
rs2060116077
|
|
NM_006363.6(SEC23B):c.438A>C (p.Ala146=)
|
|
|
NM_006363.6(SEC23B):c.438A>G (p.Ala146=)
|
|
|
NM_006363.6(SEC23B):c.450C>T (p.Ser150=)
|
|
|
NM_006363.6(SEC23B):c.480A>T (p.Pro160=)
|
|
|
NM_006363.6(SEC23B):c.489G>A (p.Leu163=)
|
|
|
NM_006363.6(SEC23B):c.489G>C (p.Leu163=)
|
|
|
NM_006363.6(SEC23B):c.489G>T (p.Leu163=)
|
|
|
NM_006363.6(SEC23B):c.490del (p.Val164fs)
|
|
|
NM_006363.6(SEC23B):c.501C>G (p.Ile167Met)
|
|
|
NM_006363.6(SEC23B):c.528T>C (p.His176=)
|
|
|
NM_006363.6(SEC23B):c.534A>G (p.Leu178=)
|
|
|
NM_006363.6(SEC23B):c.539G>A (p.Cys180Tyr)
|
|
|
NM_006363.6(SEC23B):c.545del (p.Gly182fs)
|
|
|
NM_006363.6(SEC23B):c.546A>T (p.Gly182=)
|
rs1347919581
|
|
NM_006363.6(SEC23B):c.561T>C (p.Tyr187=)
|
|
|
NM_006363.6(SEC23B):c.564C>A (p.Val188=)
|
|
|
NM_006363.6(SEC23B):c.568C>A (p.Arg190=)
|
|
|
NM_006363.6(SEC23B):c.568C>T (p.Arg190Ter)
|
|
|
NM_006363.6(SEC23B):c.573G>A (p.Gly191=)
|
|
|
NM_006363.6(SEC23B):c.576_583delinsA (p.Thr192_Lys193insTer)
|
rs1555788144
|
|
NM_006363.6(SEC23B):c.582T>C (p.Asp194=)
|
|
|
NM_006363.6(SEC23B):c.584dup (p.Leu195fs)
|
|
|
NM_006363.6(SEC23B):c.592A>T (p.Lys198Ter)
|
|
|
NM_006363.6(SEC23B):c.5C>T (p.Ala2Val)
|
|
|
NM_006363.6(SEC23B):c.603+10T>C
|
|
|
NM_006363.6(SEC23B):c.603+12A>G
|
|
|
NM_006363.6(SEC23B):c.604-10T>G
|
|
|
NM_006363.6(SEC23B):c.604-11_604-10insC
|
|
|
NM_006363.6(SEC23B):c.604-19T>G
|
|
|
NM_006363.6(SEC23B):c.604-20T>C
|
|
|
NM_006363.6(SEC23B):c.604-4del
|
|
|
NM_006363.6(SEC23B):c.604-4dup
|
rs750339397
|
|
NM_006363.6(SEC23B):c.604-5_604-4dup
|
rs750339397
|
|
NM_006363.6(SEC23B):c.604-6T>C
|
|
|
NM_006363.6(SEC23B):c.604-6_604-4del
|
|
|
NM_006363.6(SEC23B):c.606T>C (p.Asp202=)
|
|
|
NM_006363.6(SEC23B):c.614G>C (p.Gly205Ala)
|
|
|
NM_006363.6(SEC23B):c.618G>T (p.Leu206=)
|
|
|
NM_006363.6(SEC23B):c.624G>A (p.Lys208=)
|
|
|
NM_006363.6(SEC23B):c.631A>G (p.Met211Val)
|
|
|
NM_006363.6(SEC23B):c.636C>T (p.Pro212=)
|
|
|
NM_006363.6(SEC23B):c.640C>T (p.Gln214Ter)
|
|
|
NM_006363.6(SEC23B):c.645A>G (p.Gln215=)
|
|
|
NM_006363.6(SEC23B):c.666G>A (p.Gln222=)
|
|
|
NM_006363.6(SEC23B):c.669G>A (p.Glu223=)
|
|
|
NM_006363.6(SEC23B):c.689+14A>T
|
|
|
NM_006363.6(SEC23B):c.689+19G>T
|
|
|
NM_006363.6(SEC23B):c.689+1G>C
|
|
|
NM_006363.6(SEC23B):c.689+1G>T
|
|
|
NM_006363.6(SEC23B):c.689+7G>T
|
|
|
NM_006363.6(SEC23B):c.689+8C>T
|
|
|
NM_006363.6(SEC23B):c.689+9C>A
|
|
|
NM_006363.6(SEC23B):c.690-17C>T
|
|
|
NM_006363.6(SEC23B):c.690-4_690-3dup
|
|
|
NM_006363.6(SEC23B):c.690-7C>G
|
|
|
NM_006363.6(SEC23B):c.6G>A (p.Ala2=)
|
|
|
NM_006363.6(SEC23B):c.708C>A (p.His236Gln)
|
rs748683327
|
|
NM_006363.6(SEC23B):c.708C>T (p.His236=)
|
|
|
NM_006363.6(SEC23B):c.712A>G (p.Ile238Val)
|
|
|
NM_006363.6(SEC23B):c.716A>G (p.Asp239Gly)
|
rs761034212
|
|
NM_006363.6(SEC23B):c.732T>C (p.Asp244=)
|
|
|
NM_006363.6(SEC23B):c.738T>C (p.Leu246=)
|
|
|
NM_006363.6(SEC23B):c.744G>A (p.Glu248=)
|
|
|
NM_006363.6(SEC23B):c.757C>T (p.Pro253Ser)
|
|
|
NM_006363.6(SEC23B):c.759A>G (p.Pro253=)
|
|
|
NM_006363.6(SEC23B):c.762G>A (p.Trp254Ter)
|
|
|
NM_006363.6(SEC23B):c.765A>G (p.Pro255=)
|
|
|
NM_006363.6(SEC23B):c.783A>G (p.Arg261=)
|
|
|
NM_006363.6(SEC23B):c.78C>T (p.Ser26=)
|
|
|
NM_006363.6(SEC23B):c.791G>A (p.Arg264Gln)
|
rs148239360
|
|
NM_006363.6(SEC23B):c.816del (p.Ile272fs)
|
rs1568606490
|
|
NM_006363.6(SEC23B):c.819T>C (p.Ala273=)
|
|
|
NM_006363.6(SEC23B):c.820G>A (p.Val274Ile)
|
rs747388303
|
|
NM_006363.6(SEC23B):c.834+14T>C
|
rs2148899499
|
|
NM_006363.6(SEC23B):c.834+17C>G
|
|
|
NM_006363.6(SEC23B):c.834+17C>T
|
|
|
NM_006363.6(SEC23B):c.835-10G>A
|
|
|
NM_006363.6(SEC23B):c.835-2A>G
|
|
|
NM_006363.6(SEC23B):c.84G>A (p.Arg28=)
|
|
|
NM_006363.6(SEC23B):c.853G>A (p.Gly285Arg)
|
|
|
NM_006363.6(SEC23B):c.85C>T (p.Leu29=)
|
rs886056525
|
|
NM_006363.6(SEC23B):c.873T>C (p.Phe291=)
|
|
|
NM_006363.6(SEC23B):c.873del (p.Phe291fs)
|
|
|
NM_006363.6(SEC23B):c.879A>G (p.Gly293=)
|
|
|
NM_006363.6(SEC23B):c.87G>A (p.Leu29=)
|
|
|
NM_006363.6(SEC23B):c.888T>C (p.Pro296=)
|
|
|
NM_006363.6(SEC23B):c.891C>T (p.Thr297=)
|
|
|
NM_006363.6(SEC23B):c.897G>A (p.Gly299=)
|
|
|
NM_006363.6(SEC23B):c.897G>C (p.Gly299=)
|
|
|
NM_006363.6(SEC23B):c.912T>A (p.Val304=)
|
|
|
NM_006363.6(SEC23B):c.937C>T (p.Arg313Cys)
|
|
|
NM_006363.6(SEC23B):c.938G>A (p.Arg313His)
|
|
|
NM_006363.6(SEC23B):c.93T>G (p.Ala31=)
|
|
|
NM_006363.6(SEC23B):c.953T>C (p.Ile318Thr)
|
|
|
NM_006363.6(SEC23B):c.954T>C (p.Ile318=)
|
|
|
NM_006363.6(SEC23B):c.960A>G (p.Lys320=)
|
|
|
NM_006363.6(SEC23B):c.96A>G (p.Thr32=)
|
|
|
NM_006363.6(SEC23B):c.983dup (p.Ala329fs)
|
|
|
NM_006363.6(SEC23B):c.985G>C (p.Ala329Pro)
|
|
|
NM_006363.6(SEC23B):c.985G>T (p.Ala329Ser)
|
rs143417821
|
|
NM_006363.6(SEC23B):c.990C>T (p.Thr330=)
|
|
|
NM_006363.6(SEC23B):c.993+11T>C
|
|
|
NM_006363.6(SEC23B):c.993+14G>A
|
|
|
NM_006363.6(SEC23B):c.993+15G>C
|
|
|
NM_006363.6(SEC23B):c.993+8C>G
|
|
|
NM_006363.6(SEC23B):c.993+8C>T
|
|
|
NM_006363.6(SEC23B):c.994-10C>G
|
|
|
NM_006363.6(SEC23B):c.994-13C>G
|
|
|
NM_006363.6(SEC23B):c.994-189T>A
|
|
|
NM_006363.6(SEC23B):c.994-189T>C
|
|
|
NM_006363.6(SEC23B):c.994-19A>G
|
|
|
NM_006363.6(SEC23B):c.994-20T>A
|
|
|
NM_006363.6(SEC23B):c.9A>G (p.Thr3=)
|
|
|
NM_006563.5(KLF1):c.*291A>G
|
rs531279487
|
|
NM_006563.5(KLF1):c.1012C>T (p.Pro338Ser)
|
rs387907599
|
|
NM_006563.5(KLF1):c.1016T>C (p.Phe339Ser)
|
rs1970419176
|
|
NM_006563.5(KLF1):c.1036C>T (p.Arg346Cys)
|
rs1232742005
|
|
NM_006563.5(KLF1):c.649C>T (p.Gln217Ter)
|
rs2145927881
|
|
NM_006563.5(KLF1):c.676G>A (p.Ala226Thr)
|
rs1970432271
|
|
NM_006563.5(KLF1):c.892G>C (p.Ala298Pro)
|
rs387907598
|
|
NM_006563.5(KLF1):c.913+1G>A
|
rs483352840
|
|
NM_006563.5(KLF1):c.973G>A (p.Glu325Lys)
|
rs267607201
|
|
NM_016123.4(IRAK4):c.161+1G>A
|
|
|
NM_016123.4(IRAK4):c.86A>C (p.Gln29Pro)
|
|
|
NM_032609.3(COX4I2):c.28G>A (p.Val10Met)
|
|
|
NM_032609.3(COX4I2):c.333C>G (p.Phe111Leu)
|
|
|
NM_032609.3(COX4I2):c.83-8_83-7del
|
rs528430338
|
|
NM_138477.4(CDAN1):c.*174G>C
|
rs2061494783
|
|
NM_138477.4(CDAN1):c.*249GTTT[1]
|
rs767935615
|
|
NM_138477.4(CDAN1):c.*539C>T
|
rs1314999197
|
|
NM_138477.4(CDAN1):c.*600A>G
|
rs886051155
|
|
NM_138477.4(CDAN1):c.*641G>T
|
rs2061489811
|
|
NM_138477.4(CDAN1):c.*657A>G
|
rs752891192
|
|
NM_138477.4(CDAN1):c.*680C>G
|
rs965392126
|
|
NM_138477.4(CDAN1):c.*687G>C
|
rs1245688161
|
|
NM_138477.4(CDAN1):c.*731C>A
|
rs2061488733
|
|
NM_138477.4(CDAN1):c.*775AACA[1]
|
rs531320636
|
|
NM_138477.4(CDAN1):c.*788G>T
|
rs886051154
|
|
NM_138477.4(CDAN1):c.*827A>G
|
rs573659922
|
|
NM_138477.4(CDAN1):c.*896T>C
|
rs2061486806
|
|
NM_138477.4(CDAN1):c.*94T>C
|
rs2061495632
|
|
NM_138477.4(CDAN1):c.1055_1056del (p.Leu352fs)
|
rs2140505826
|
|
NM_138477.4(CDAN1):c.1117_1119del (p.Val373del)
|
rs120074169
|
|
NM_138477.4(CDAN1):c.1138G>C (p.Val380Leu)
|
|
|
NM_138477.4(CDAN1):c.1180G>A (p.Glu394Lys)
|
|
|
NM_138477.4(CDAN1):c.1239T>A (p.Tyr413Ter)
|
rs1336651679
|
|
NM_138477.4(CDAN1):c.1322C>T (p.Ala441Val)
|
rs886051158
|
|
NM_138477.4(CDAN1):c.1340G>A (p.Arg447Gln)
|
|
|
NM_138477.4(CDAN1):c.134T>C (p.Leu45Pro)
|
|
|
NM_138477.4(CDAN1):c.1384G>A (p.Val462Met)
|
|
|
NM_138477.4(CDAN1):c.1448G>A (p.Ser483Asn)
|
|
|
NM_138477.4(CDAN1):c.1489AGCCAC[3] (p.497SH[3])
|
rs778227051
|
|
NM_138477.4(CDAN1):c.1507C>T (p.Arg503Trp)
|
rs748862062
|
|
NM_138477.4(CDAN1):c.1587T>G (p.Asp529Glu)
|
|
|
NM_138477.4(CDAN1):c.1596dup (p.Met533fs)
|
rs778822407
|
|
NM_138477.4(CDAN1):c.1606G>C (p.Ala536Pro)
|
|
|
NM_138477.4(CDAN1):c.1663A>G (p.Ser555Gly)
|
|
|
NM_138477.4(CDAN1):c.1681C>T (p.Pro561Ser)
|
|
|
NM_138477.4(CDAN1):c.169del (p.Phe56_Leu57insTer)
|
|
|
NM_138477.4(CDAN1):c.1715G>C (p.Arg572Thr)
|
|
|
NM_138477.4(CDAN1):c.1740-10T>A
|
rs886051157
|
|
NM_138477.4(CDAN1):c.1740-20C>T
|
|
|
NM_138477.4(CDAN1):c.1740-6_1740-4del
|
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NM_138477.4(CDAN1):c.1763T>C (p.Met588Thr)
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NM_138477.4(CDAN1):c.1775G>A (p.Ser592Asn)
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|
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NM_138477.4(CDAN1):c.1790A>G (p.Glu597Gly)
|
rs778169314
|
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NM_138477.4(CDAN1):c.1819G>A (p.Glu607Lys)
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|
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NM_138477.4(CDAN1):c.187C>T (p.Arg63Cys)
|
rs775619948
|
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NM_138477.4(CDAN1):c.1915T>C (p.Phe639Leu)
|
rs2061603986
|
|
NM_138477.4(CDAN1):c.201G>T (p.Gln67His)
|
rs2061692835
|
|
NM_138477.4(CDAN1):c.2029C>T (p.Arg677Trp)
|
|
|
NM_138477.4(CDAN1):c.2045G>A (p.Arg682Gln)
|
|
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NM_138477.4(CDAN1):c.2052G>A (p.Leu684=)
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NM_138477.4(CDAN1):c.2060G>A (p.Arg687His)
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NM_138477.4(CDAN1):c.2062C>T (p.Arg688Trp)
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|
|
NM_138477.4(CDAN1):c.2066C>A (p.Ala689Glu)
|
rs140334403
|
|
NM_138477.4(CDAN1):c.2080C>T (p.Pro694Ser)
|
rs2061599288
|
|
NM_138477.4(CDAN1):c.2087T>A (p.Leu696Gln)
|
|
|
NM_138477.4(CDAN1):c.2110G>A (p.Asp704Asn)
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|
|
NM_138477.4(CDAN1):c.2173C>T (p.Arg725Trp)
|
rs138334226
|
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NM_138477.4(CDAN1):c.2174+11C>T
|
rs749464836
|
|
NM_138477.4(CDAN1):c.2185T>G (p.Leu729Val)
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|
|
NM_138477.4(CDAN1):c.2186T>C (p.Leu729Ser)
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NM_138477.4(CDAN1):c.2194G>A (p.Glu732Lys)
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|
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NM_138477.4(CDAN1):c.2229G>C (p.Leu743=)
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NM_138477.4(CDAN1):c.222G>T (p.Lys74Asn)
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NM_138477.4(CDAN1):c.226C>G (p.Pro76Ala)
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NM_138477.4(CDAN1):c.2285T>C (p.Leu762Ser)
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NM_138477.4(CDAN1):c.230del (p.Gly77fs)
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NM_138477.4(CDAN1):c.2353-18C>A
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NM_138477.4(CDAN1):c.2357A>G (p.Asn786Ser)
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NM_138477.4(CDAN1):c.2403dup (p.Ile802fs)
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NM_138477.4(CDAN1):c.2428G>A (p.Ala810Thr)
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NM_138477.4(CDAN1):c.2428G>C (p.Ala810Pro)
|
rs747975571
|
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NM_138477.4(CDAN1):c.2439G>A (p.Val813=)
|
rs2061577795
|
|
NM_138477.4(CDAN1):c.2464G>A (p.Gly822Ser)
|
rs1193351243
|
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NM_138477.4(CDAN1):c.2542-3C>G
|
rs201401533
|
|
NM_138477.4(CDAN1):c.255G>A (p.Arg85=)
|
rs886051159
|
|
NM_138477.4(CDAN1):c.257C>T (p.Pro86Leu)
|
rs1442095399
|
|
NM_138477.4(CDAN1):c.2585T>C (p.Leu862Ser)
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|
|
NM_138477.4(CDAN1):c.2590C>T (p.Arg864Trp)
|
rs746216798
|
|
NM_138477.4(CDAN1):c.2592_2596dup (p.Val866fs)
|
rs1296421769
|
|
NM_138477.4(CDAN1):c.2602T>A (p.Phe868Ile)
|
rs120074168
|
|
NM_138477.4(CDAN1):c.2605G>A (p.Val869Met)
|
rs370895637
|
|
NM_138477.4(CDAN1):c.2645+2dup
|
|
|
NM_138477.4(CDAN1):c.2650A>C (p.Thr884Pro)
|
|
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NM_138477.4(CDAN1):c.2660C>T (p.Ala887Val)
|
|
|
NM_138477.4(CDAN1):c.2672G>A (p.Arg891His)
|
|
|
NM_138477.4(CDAN1):c.274G>C (p.Gly92Arg)
|
rs1051388342
|
|
NM_138477.4(CDAN1):c.278_279delinsAT (p.Ser93Asn)
|
rs2140513573
|
|
NM_138477.4(CDAN1):c.2804A>G (p.Glu935Gly)
|
|
|
NM_138477.4(CDAN1):c.2833G>T (p.Val945Leu)
|
rs756449578
|
|
NM_138477.4(CDAN1):c.2852_2853del (p.Glu951fs)
|
rs2140471687
|
|
NM_138477.4(CDAN1):c.2861C>T (p.Pro954Leu)
|
|
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NM_138477.4(CDAN1):c.2868+4C>T
|
rs749746339
|
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NM_138477.4(CDAN1):c.2887A>G (p.Asn963Asp)
|
|
|
NM_138477.4(CDAN1):c.2893G>T (p.Ala965Ser)
|
|
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NM_138477.4(CDAN1):c.2939A>G (p.Asn980Ser)
|
|
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NM_138477.4(CDAN1):c.2947G>C (p.Ala983Pro)
|
|
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NM_138477.4(CDAN1):c.2975C>T (p.Ala992Val)
|
|
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NM_138477.4(CDAN1):c.2984G>T (p.Arg995Leu)
|
|
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NM_138477.4(CDAN1):c.2995G>A (p.Ala999Thr)
|
|
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NM_138477.4(CDAN1):c.3026A>G (p.Glu1009Gly)
|
|
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NM_138477.4(CDAN1):c.3028C>G (p.Arg1010Gly)
|
|
|
NM_138477.4(CDAN1):c.3097-26_3097-20del
|
|
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NM_138477.4(CDAN1):c.3106T>C (p.Ser1036Pro)
|
|
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NM_138477.4(CDAN1):c.3119G>A (p.Gly1040Glu)
|
|
|
NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp)
|
rs80338697
|
|
NM_138477.4(CDAN1):c.3135C>A (p.Asp1045Glu)
|
rs146289653
|
|
NM_138477.4(CDAN1):c.3135C>T (p.Asp1045=)
|
rs146289653
|
|
NM_138477.4(CDAN1):c.3136G>A (p.Glu1046Lys)
|
|
|
NM_138477.4(CDAN1):c.313G>A (p.Glu105Lys)
|
|
|
NM_138477.4(CDAN1):c.3189G>A (p.Thr1063=)
|
|
|
NM_138477.4(CDAN1):c.3199C>T (p.Arg1067Cys)
|
|
|
NM_138477.4(CDAN1):c.3205-5C>A
|
rs772939236
|
|
NM_138477.4(CDAN1):c.3290dup (p.Gly1098fs)
|
|
|
NM_138477.4(CDAN1):c.3299C>T (p.Pro1100Leu)
|
|
|
NM_138477.4(CDAN1):c.333C>T (p.Ala111=)
|
rs1320661924
|
|
NM_138477.4(CDAN1):c.3416A>C (p.Asn1139Thr)
|
|
|
NM_138477.4(CDAN1):c.3476G>A (p.Arg1159Gln)
|
|
|
NM_138477.4(CDAN1):c.3597T>G (p.Phe1199Leu)
|
|
|
NM_138477.4(CDAN1):c.3604G>A (p.Glu1202Lys)
|
|
|
NM_138477.4(CDAN1):c.3658C>T (p.Arg1220Trp)
|
|
|
NM_138477.4(CDAN1):c.375G>A (p.Pro125=)
|
|
|
NM_138477.4(CDAN1):c.463G>A (p.Gly155Ser)
|
|
|
NM_138477.4(CDAN1):c.494C>T (p.Thr165Met)
|
|
|
NM_138477.4(CDAN1):c.548C>T (p.Ser183Leu)
|
|
|
NM_138477.4(CDAN1):c.557C>G (p.Pro186Arg)
|
|
|
NM_138477.4(CDAN1):c.559G>A (p.Gly187Ser)
|
|
|
NM_138477.4(CDAN1):c.639C>G (p.Thr213=)
|
|
|
NM_138477.4(CDAN1):c.688G>A (p.Ala230Thr)
|
|
|
NM_138477.4(CDAN1):c.773+14G>A
|
rs543228844
|
|
NM_138477.4(CDAN1):c.774-3T>C
|
rs756901380
|
|
NM_138477.4(CDAN1):c.779A>G (p.Lys260Arg)
|
|
|
NM_138477.4(CDAN1):c.77C>T (p.Thr26Ile)
|
|
|
NM_138477.4(CDAN1):c.788del (p.Gln263fs)
|
|
|
NM_138477.4(CDAN1):c.791A>C (p.Gln264Pro)
|
|
|
NM_138477.4(CDAN1):c.803C>G (p.Pro268Arg)
|
|
|
NM_138477.4(CDAN1):c.804C>A (p.Pro268=)
|
|
|
NM_138477.4(CDAN1):c.844C>T (p.Arg282Trp)
|
|
|
NM_138477.4(CDAN1):c.848C>G (p.Thr283Arg)
|
rs1168958842
|
|
NM_138477.4(CDAN1):c.885_886del (p.Arg295fs)
|
|
|
NM_138477.4(CDAN1):c.88G>C (p.Glu30Gln)
|
|
|
NM_138477.4(CDAN1):c.890C>A (p.Ser297Tyr)
|
|
|
NM_173469.4(UBE2Q2):c.884+2293G>A
|
|
|