NM_002972.4(SBF1):c.3904+5C>G
|
rs115032856
|
0.00233
|
NM_002972.4(SBF1):c.4927C>A (p.Pro1643Thr)
|
rs202049257
|
0.00229
|
NM_002972.4(SBF1):c.868G>A (p.Ala290Thr)
|
rs201776298
|
0.00222
|
NM_002972.4(SBF1):c.2393A>G (p.Asn798Ser)
|
rs199705951
|
0.00206
|
NM_002972.4(SBF1):c.466C>T (p.His156Tyr)
|
rs146989767
|
0.00194
|
NM_002972.4(SBF1):c.2650C>G (p.Leu884Val)
|
rs202055128
|
0.00136
|
NM_002972.4(SBF1):c.2785G>A (p.Val929Ile)
|
rs370463792
|
0.00125
|
NM_002972.4(SBF1):c.2255C>T (p.Thr752Met)
|
rs188976869
|
0.00122
|
NM_002972.4(SBF1):c.5289C>T (p.Ser1763=)
|
rs373848053
|
0.00095
|
NM_002972.4(SBF1):c.2784C>T (p.Ala928=)
|
rs182040598
|
0.00092
|
NM_002972.4(SBF1):c.3922C>T (p.Arg1308Trp)
|
rs201399007
|
0.00091
|
NM_002972.4(SBF1):c.898-4G>A
|
rs377428323
|
0.00088
|
NM_002972.4(SBF1):c.3579C>T (p.Pro1193=)
|
rs374190021
|
0.00079
|
NM_002972.4(SBF1):c.5630C>T (p.Pro1877Leu)
|
rs200103683
|
0.00077
|
NM_002972.4(SBF1):c.630C>T (p.Ser210=)
|
rs181765196
|
0.00067
|
NM_002972.4(SBF1):c.2034G>A (p.Thr678=)
|
rs139798340
|
0.00066
|
NM_002972.4(SBF1):c.5427C>T (p.Phe1809=)
|
rs368282563
|
0.00065
|
NM_002972.4(SBF1):c.5197C>T (p.Arg1733Cys)
|
rs199972466
|
0.00057
|
NM_002972.4(SBF1):c.3905-9C>T
|
rs574807761
|
0.00053
|
NM_002972.4(SBF1):c.5265C>T (p.Asp1755=)
|
rs369993041
|
0.00053
|
NM_002972.4(SBF1):c.549+10G>A
|
rs187441948
|
0.00043
|
NM_002972.4(SBF1):c.1432-12G>A
|
rs377210668
|
0.00040
|
NM_002972.4(SBF1):c.498C>T (p.Asn166=)
|
rs373725377
|
0.00040
|
NM_002972.4(SBF1):c.2569+4C>T
|
rs200379541
|
0.00039
|
NM_002972.4(SBF1):c.4995C>T (p.Tyr1665=)
|
rs369497718
|
0.00038
|
NM_002972.4(SBF1):c.4635T>G (p.Arg1545=)
|
rs569246879
|
0.00036
|
NM_002972.4(SBF1):c.5583+14G>A
|
rs376466155
|
0.00036
|
NM_002972.4(SBF1):c.5022C>T (p.Asp1674=)
|
rs570393243
|
0.00035
|
NM_002972.4(SBF1):c.5370C>T (p.Tyr1790=)
|
rs184360634
|
0.00034
|
NM_002972.4(SBF1):c.2346T>C (p.Arg782=)
|
rs371564684
|
0.00031
|
NM_002972.4(SBF1):c.4977C>T (p.Arg1659=)
|
rs190945041
|
0.00031
|
NM_002972.4(SBF1):c.3147-8G>C
|
rs182956712
|
0.00030
|
NM_002972.4(SBF1):c.4086+13C>T
|
rs578260126
|
0.00029
|
NM_002972.4(SBF1):c.2968-15C>T
|
rs377199812
|
0.00028
|
NM_002972.4(SBF1):c.3018C>T (p.Leu1006=)
|
rs374823102
|
0.00026
|
NM_002972.4(SBF1):c.1899+14T>C
|
rs201780828
|
0.00025
|
NM_002972.4(SBF1):c.2697C>A (p.Gly899=)
|
rs374888082
|
0.00024
|
NM_002972.4(SBF1):c.2781C>T (p.Gly927=)
|
rs368067197
|
0.00024
|
NM_002972.4(SBF1):c.4539G>C (p.Leu1513=)
|
rs374064130
|
0.00024
|
NM_002972.4(SBF1):c.789-18C>T
|
rs567218864
|
0.00024
|
NM_002972.4(SBF1):c.2736C>T (p.Gly912=)
|
rs368512512
|
0.00023
|
NM_002972.4(SBF1):c.5676C>T (p.Asp1892=)
|
rs372332373
|
0.00023
|
NM_002972.4(SBF1):c.2464G>A (p.Val822Ile)
|
rs201061231
|
0.00022
|
NM_002972.4(SBF1):c.1918G>C (p.Glu640Gln)
|
rs199783239
|
0.00021
|
NM_002972.4(SBF1):c.2967+8G>A
|
rs374708421
|
0.00021
|
NM_002972.4(SBF1):c.3294G>A (p.Glu1098=)
|
rs373108686
|
0.00021
|
NM_002972.4(SBF1):c.5613C>T (p.Phe1871=)
|
rs375663506
|
0.00021
|
NM_002972.4(SBF1):c.1637-5C>T
|
rs377462059
|
0.00019
|
NM_002972.4(SBF1):c.2570-5C>T
|
rs371044795
|
0.00019
|
NM_002972.4(SBF1):c.5595G>A (p.Thr1865=)
|
rs371139013
|
0.00017
|
NM_002972.4(SBF1):c.141+13C>T
|
rs769863574
|
0.00016
|
NM_002972.4(SBF1):c.5583+13C>T
|
rs368438083
|
0.00016
|
NM_002972.4(SBF1):c.2570-3C>T
|
rs140466449
|
0.00015
|
NM_002972.4(SBF1):c.315G>A (p.Glu105=)
|
rs376479929
|
0.00015
|
NM_002972.4(SBF1):c.4536C>T (p.Phe1512=)
|
rs376706601
|
0.00015
|
NM_002972.4(SBF1):c.788+17C>T
|
rs758153014
|
0.00014
|
NM_002972.4(SBF1):c.390G>A (p.Pro130=)
|
rs550081409
|
0.00013
|
NM_002972.4(SBF1):c.834C>T (p.Leu278=)
|
rs377479447
|
0.00013
|
NM_002972.4(SBF1):c.2163C>A (p.Arg721=)
|
rs367688200
|
0.00012
|
NM_002972.4(SBF1):c.1164C>T (p.Val388=)
|
rs376600058
|
0.00011
|
NM_002972.4(SBF1):c.1716C>T (p.Tyr572=)
|
rs370719924
|
0.00011
|
NM_002972.4(SBF1):c.1969-20T>C
|
rs751966353
|
0.00011
|
NM_002972.4(SBF1):c.3231C>T (p.Ser1077=)
|
rs758221298
|
0.00011
|
NM_002972.4(SBF1):c.4047A>T (p.Arg1349=)
|
rs894127251
|
0.00011
|
NM_002972.4(SBF1):c.5145C>T (p.Asp1715=)
|
rs768802405
|
0.00011
|
NM_002972.4(SBF1):c.1161C>T (p.His387=)
|
rs369261069
|
0.00010
|
NM_002972.4(SBF1):c.3075G>A (p.Ala1025=)
|
rs545148226
|
0.00010
|
NM_002972.4(SBF1):c.5229C>T (p.Pro1743=)
|
rs201402818
|
0.00010
|
NM_002972.4(SBF1):c.660C>T (p.Ile220=)
|
rs564034935
|
0.00010
|
NM_002972.4(SBF1):c.820C>T (p.Leu274=)
|
rs117385009
|
0.00010
|
NM_002972.4(SBF1):c.1029G>A (p.Leu343=)
|
rs372907117
|
0.00009
|
NM_002972.4(SBF1):c.1333-20C>T
|
rs565943608
|
0.00009
|
NM_002972.4(SBF1):c.18C>T (p.Asp6=)
|
rs1010989734
|
0.00009
|
NM_002972.4(SBF1):c.417C>T (p.Leu139=)
|
rs561411708
|
0.00009
|
NM_002972.4(SBF1):c.4266+16C>T
|
rs371045371
|
0.00009
|
NM_002972.4(SBF1):c.56-19C>T
|
rs771729296
|
0.00009
|
NM_002972.4(SBF1):c.5673G>A (p.Ser1891=)
|
rs767764447
|
0.00009
|
NM_002972.4(SBF1):c.2535C>T (p.Ser845=)
|
rs576829341
|
0.00008
|
NM_002972.4(SBF1):c.4956C>T (p.Gly1652=)
|
rs141652490
|
0.00008
|
NM_002972.4(SBF1):c.5452-14G>C
|
rs111314962
|
0.00008
|
NM_002972.4(SBF1):c.2644-12G>C
|
rs937980460
|
0.00007
|
NM_002972.4(SBF1):c.2968-9C>T
|
rs774887232
|
0.00007
|
NM_002972.4(SBF1):c.3284-20C>T
|
rs373930223
|
0.00007
|
NM_002972.4(SBF1):c.4369-16C>T
|
rs776900856
|
0.00007
|
NM_002972.4(SBF1):c.5110G>A (p.Val1704Met)
|
rs760339634
|
0.00007
|
NM_002972.4(SBF1):c.741C>T (p.Ala247=)
|
rs773610327
|
0.00007
|
NM_002972.4(SBF1):c.1156C>T (p.Leu386=)
|
rs7284995
|
0.00006
|
NM_002972.4(SBF1):c.1212C>T (p.Phe404=)
|
rs754999203
|
0.00006
|
NM_002972.4(SBF1):c.1536C>T (p.Thr512=)
|
rs959615950
|
0.00006
|
NM_002972.4(SBF1):c.1932G>A (p.Ala644=)
|
rs370680754
|
0.00006
|
NM_002972.4(SBF1):c.2128-20T>C
|
rs533200758
|
0.00006
|
NM_002972.4(SBF1):c.2319C>T (p.Ser773=)
|
rs750670371
|
0.00006
|
NM_002972.4(SBF1):c.2436C>T (p.Ser812=)
|
rs768340684
|
0.00006
|
NM_002972.4(SBF1):c.279+11G>A
|
rs538116086
|
0.00006
|
NM_002972.4(SBF1):c.3768C>T (p.Ala1256=)
|
rs376722187
|
0.00006
|
NM_002972.4(SBF1):c.3795C>T (p.Ser1265=)
|
rs754290798
|
0.00006
|
NM_002972.4(SBF1):c.3904+18C>T
|
rs747565126
|
0.00006
|
NM_002972.4(SBF1):c.3905-19C>T
|
rs1036929462
|
0.00006
|
NM_002972.4(SBF1):c.4026G>A (p.Pro1342=)
|
rs556959842
|
0.00006
|
NM_002972.4(SBF1):c.4554+7A>G
|
rs756385974
|
0.00006
|
NM_002972.4(SBF1):c.4830C>T (p.Ser1610=)
|
rs376785410
|
0.00006
|
NM_002972.4(SBF1):c.1107G>A (p.Ala369=)
|
rs374854877
|
0.00005
|
NM_002972.4(SBF1):c.1677C>T (p.Ser559=)
|
rs201649082
|
0.00005
|
NM_002972.4(SBF1):c.2157C>T (p.Asp719=)
|
rs376310469
|
0.00005
|
NM_002972.4(SBF1):c.2937C>T (p.Asp979=)
|
rs572355603
|
0.00005
|
NM_002972.4(SBF1):c.3306C>T (p.Ser1102=)
|
rs377712061
|
0.00005
|
NM_002972.4(SBF1):c.3318G>A (p.Pro1106=)
|
rs758415526
|
0.00005
|
NM_002972.4(SBF1):c.3399C>T (p.Leu1133=)
|
rs367869582
|
0.00005
|
NM_002972.4(SBF1):c.3984C>T (p.Asp1328=)
|
rs375822676
|
0.00005
|
NM_002972.4(SBF1):c.4041G>A (p.Pro1347=)
|
rs560672186
|
0.00005
|
NM_002972.4(SBF1):c.4554+12G>A
|
rs375866958
|
0.00005
|
NM_002972.4(SBF1):c.5007G>A (p.Pro1669=)
|
rs762685233
|
0.00005
|
NM_002972.4(SBF1):c.5601C>T (p.Arg1867=)
|
rs751391089
|
0.00005
|
NM_002972.4(SBF1):c.1041C>T (p.Asp347=)
|
rs142011499
|
0.00004
|
NM_002972.4(SBF1):c.1948C>T (p.Leu650=)
|
rs371044113
|
0.00004
|
NM_002972.4(SBF1):c.2301C>T (p.Leu767=)
|
rs764161986
|
0.00004
|
NM_002972.4(SBF1):c.2397-11C>T
|
rs778004319
|
0.00004
|
NM_002972.4(SBF1):c.2430G>A (p.Thr810=)
|
rs761498880
|
0.00004
|
NM_002972.4(SBF1):c.2664C>G (p.Arg888=)
|
rs768225492
|
0.00004
|
NM_002972.4(SBF1):c.2820G>A (p.Gly940=)
|
rs769707836
|
0.00004
|
NM_002972.4(SBF1):c.288G>A (p.Thr96=)
|
rs758908974
|
0.00004
|
NM_002972.4(SBF1):c.2982C>T (p.Ala994=)
|
rs571868041
|
0.00004
|
NM_002972.4(SBF1):c.3141C>T (p.Ser1047=)
|
rs376170957
|
0.00004
|
NM_002972.4(SBF1):c.3315C>T (p.Thr1105=)
|
rs201341949
|
0.00004
|
NM_002972.4(SBF1):c.3491+9C>T
|
rs368906696
|
0.00004
|
NM_002972.4(SBF1):c.3675C>T (p.Asn1225=)
|
rs370080660
|
0.00004
|
NM_002972.4(SBF1):c.3771C>T (p.Asp1257=)
|
rs375371475
|
0.00004
|
NM_002972.4(SBF1):c.3826+19A>G
|
rs772284350
|
0.00004
|
NM_002972.4(SBF1):c.3882C>T (p.Ala1294=)
|
rs911114062
|
0.00004
|
NM_002972.4(SBF1):c.42G>A (p.Gly14=)
|
rs763539016
|
0.00004
|
NM_002972.4(SBF1):c.4398C>T (p.Asp1466=)
|
rs757006638
|
0.00004
|
NM_002972.4(SBF1):c.4458C>T (p.Phe1486=)
|
rs779140599
|
0.00004
|
NM_002972.4(SBF1):c.4659T>C (p.Ser1553=)
|
rs370609486
|
0.00004
|
NM_002972.4(SBF1):c.4682-9T>G
|
rs774056815
|
0.00004
|
NM_002972.4(SBF1):c.468C>T (p.His156=)
|
rs781517999
|
0.00004
|
NM_002972.4(SBF1):c.4806C>T (p.Asp1602=)
|
rs377278896
|
0.00004
|
NM_002972.4(SBF1):c.5152-10C>T
|
rs754659630
|
0.00004
|
NM_002972.4(SBF1):c.5214C>T (p.Tyr1738=)
|
rs538322990
|
0.00004
|
NM_002972.4(SBF1):c.5262C>T (p.Ser1754=)
|
rs374020231
|
0.00004
|
NM_002972.4(SBF1):c.864C>A (p.Val288=)
|
rs373166976
|
0.00004
|
NM_002972.4(SBF1):c.1204-16T>A
|
rs202023370
|
0.00003
|
NM_002972.4(SBF1):c.1416G>A (p.Glu472=)
|
rs368064361
|
0.00003
|
NM_002972.4(SBF1):c.1614C>T (p.Thr538=)
|
rs374717820
|
0.00003
|
NM_002972.4(SBF1):c.1617G>A (p.Val539=)
|
rs763433550
|
0.00003
|
NM_002972.4(SBF1):c.1969-13C>T
|
rs772914957
|
0.00003
|
NM_002972.4(SBF1):c.219C>T (p.Ile73=)
|
rs750211528
|
0.00003
|
NM_002972.4(SBF1):c.2643+7G>A
|
rs200977424
|
0.00003
|
NM_002972.4(SBF1):c.2644-7C>T
|
rs750346389
|
0.00003
|
NM_002972.4(SBF1):c.2763A>G (p.Ala921=)
|
rs754332334
|
0.00003
|
NM_002972.4(SBF1):c.3492-10C>T
|
rs367873562
|
0.00003
|
NM_002972.4(SBF1):c.3492-18G>A
|
rs759553221
|
0.00003
|
NM_002972.4(SBF1):c.3588C>T (p.Cys1196=)
|
rs755641745
|
0.00003
|
NM_002972.4(SBF1):c.393G>A (p.Lys131=)
|
rs934675438
|
0.00003
|
NM_002972.4(SBF1):c.4035G>T (p.Leu1345=)
|
rs1161130588
|
0.00003
|
NM_002972.4(SBF1):c.4266+17G>A
|
rs747460539
|
0.00003
|
NM_002972.4(SBF1):c.4368+9C>T
|
rs377190477
|
0.00003
|
NM_002972.4(SBF1):c.450C>T (p.Gly150=)
|
rs373939235
|
0.00003
|
NM_002972.4(SBF1):c.4812+19C>T
|
rs372675687
|
0.00003
|
NM_002972.4(SBF1):c.5451+20G>T
|
rs200203003
|
0.00003
|
NM_002972.4(SBF1):c.5452-13T>C
|
rs1041714510
|
0.00003
|
NM_002972.4(SBF1):c.5584-13C>T
|
rs764420155
|
0.00003
|
NM_002972.4(SBF1):c.837C>T (p.Ser279=)
|
rs973607908
|
0.00003
|
NM_002972.4(SBF1):c.898-19C>T
|
rs759332923
|
0.00003
|
NM_002972.4(SBF1):c.1090-5C>T
|
rs751426289
|
0.00002
|
NM_002972.4(SBF1):c.1258C>T (p.Leu420=)
|
rs754341048
|
0.00002
|
NM_002972.4(SBF1):c.1365G>A (p.Ala455=)
|
rs771266434
|
0.00002
|
NM_002972.4(SBF1):c.1761C>T (p.Ala587=)
|
rs766048226
|
0.00002
|
NM_002972.4(SBF1):c.1900-6C>T
|
rs777641509
|
0.00002
|
NM_002972.4(SBF1):c.1917C>T (p.Asp639=)
|
rs750516504
|
0.00002
|
NM_002972.4(SBF1):c.280-13del
|
rs758405012
|
0.00002
|
NM_002972.4(SBF1):c.2880G>A (p.Ala960=)
|
rs371514084
|
0.00002
|
NM_002972.4(SBF1):c.2913C>T (p.Thr971=)
|
rs769846010
|
0.00002
|
NM_002972.4(SBF1):c.2988C>T (p.Asp996=)
|
rs549851312
|
0.00002
|
NM_002972.4(SBF1):c.3153G>C (p.Leu1051=)
|
rs1413380622
|
0.00002
|
NM_002972.4(SBF1):c.3283+9G>A
|
rs758044883
|
0.00002
|
NM_002972.4(SBF1):c.3284-13C>T
|
rs766407130
|
0.00002
|
NM_002972.4(SBF1):c.3702G>A (p.Ala1234=)
|
rs368478446
|
0.00002
|
NM_002972.4(SBF1):c.3777G>T (p.Ser1259=)
|
rs373494342
|
0.00002
|
NM_002972.4(SBF1):c.3936C>T (p.Arg1312=)
|
rs376167377
|
0.00002
|
NM_002972.4(SBF1):c.396G>T (p.Thr132=)
|
rs373068076
|
0.00002
|
NM_002972.4(SBF1):c.4137A>G (p.Val1379=)
|
rs371688783
|
0.00002
|
NM_002972.4(SBF1):c.4269C>T (p.Ile1423=)
|
rs370634606
|
0.00002
|
NM_002972.4(SBF1):c.4326C>T (p.Ser1442=)
|
rs545508594
|
0.00002
|
NM_002972.4(SBF1):c.4368+11C>T
|
rs770151042
|
0.00002
|
NM_002972.4(SBF1):c.438+7C>A
|
rs756333182
|
0.00002
|
NM_002972.4(SBF1):c.439-17C>T
|
rs544063033
|
0.00002
|
NM_002972.4(SBF1):c.4653C>T (p.Leu1551=)
|
rs200816076
|
0.00002
|
NM_002972.4(SBF1):c.4989C>G (p.Pro1663=)
|
rs753094095
|
0.00002
|
NM_002972.4(SBF1):c.5452-6C>T
|
rs771066494
|
0.00002
|
NM_002972.4(SBF1):c.550-19G>A
|
rs980126885
|
0.00002
|
NM_002972.4(SBF1):c.550-6C>T
|
rs1486097437
|
0.00002
|
NM_002972.4(SBF1):c.651G>A (p.Gln217=)
|
rs1292863100
|
0.00002
|
NM_002972.4(SBF1):c.747C>T (p.Ala249=)
|
rs904601457
|
0.00002
|
NM_002972.4(SBF1):c.1011+13A>G
|
rs574092462
|
0.00001
|
NM_002972.4(SBF1):c.1011+19A>T
|
rs1477671527
|
0.00001
|
NM_002972.4(SBF1):c.1050C>T (p.Phe350=)
|
rs759577723
|
0.00001
|
NM_002972.4(SBF1):c.1089+13G>C
|
rs1433178335
|
0.00001
|
NM_002972.4(SBF1):c.1089+14C>T
|
rs767409867
|
0.00001
|
NM_002972.4(SBF1):c.1089+17C>T
|
rs751481216
|
0.00001
|
NM_002972.4(SBF1):c.1104C>T (p.Arg368=)
|
rs766464986
|
0.00001
|
NM_002972.4(SBF1):c.1114C>T (p.Leu372=)
|
rs759862768
|
0.00001
|
NM_002972.4(SBF1):c.1203+16G>C
|
rs367804961
|
0.00001
|
NM_002972.4(SBF1):c.1204-12T>C
|
rs775235694
|
0.00001
|
NM_002972.4(SBF1):c.1275T>C (p.Phe425=)
|
rs1270300223
|
0.00001
|
NM_002972.4(SBF1):c.1299G>C (p.Gly433=)
|
rs377074208
|
0.00001
|
NM_002972.4(SBF1):c.1332+19C>T
|
rs752249812
|
0.00001
|
NM_002972.4(SBF1):c.141+12G>A
|
rs373099736
|
0.00001
|
NM_002972.4(SBF1):c.1492C>T (p.Leu498=)
|
rs1408685529
|
0.00001
|
NM_002972.4(SBF1):c.1587A>G (p.Pro529=)
|
rs1603433549
|
0.00001
|
NM_002972.4(SBF1):c.1632C>T (p.Pro544=)
|
rs761428168
|
0.00001
|
NM_002972.4(SBF1):c.1637-8C>T
|
rs771708943
|
0.00001
|
NM_002972.4(SBF1):c.1665G>A (p.Leu555=)
|
rs1417277547
|
0.00001
|
NM_002972.4(SBF1):c.1749+12G>C
|
rs1247573172
|
0.00001
|
NM_002972.4(SBF1):c.1893C>T (p.Cys631=)
|
rs372442489
|
0.00001
|
NM_002972.4(SBF1):c.1899+7C>T
|
rs1036665008
|
0.00001
|
NM_002972.4(SBF1):c.189G>A (p.Pro63=)
|
rs778155715
|
0.00001
|
NM_002972.4(SBF1):c.1912C>T (p.Leu638=)
|
rs1266699257
|
0.00001
|
NM_002972.4(SBF1):c.1968+9T>G
|
rs754010439
|
0.00001
|
NM_002972.4(SBF1):c.2128-12G>C
|
rs766105341
|
0.00001
|
NM_002972.4(SBF1):c.2128-7G>A
|
rs370983324
|
0.00001
|
NM_002972.4(SBF1):c.213C>T (p.Thr71=)
|
rs754377034
|
0.00001
|
NM_002972.4(SBF1):c.2409T>C (p.Ser803=)
|
rs371475259
|
0.00001
|
NM_002972.4(SBF1):c.2463C>T (p.Asp821=)
|
rs780745221
|
0.00001
|
NM_002972.4(SBF1):c.2517G>A (p.Thr839=)
|
rs781298363
|
0.00001
|
NM_002972.4(SBF1):c.2565G>A (p.Val855=)
|
rs753500730
|
0.00001
|
NM_002972.4(SBF1):c.2589C>T (p.Ile863=)
|
rs568440150
|
0.00001
|
NM_002972.4(SBF1):c.2604C>T (p.Ala868=)
|
rs766274253
|
0.00001
|
NM_002972.4(SBF1):c.2634C>T (p.Pro878=)
|
rs1158438710
|
0.00001
|
NM_002972.4(SBF1):c.279+13C>T
|
rs750156359
|
0.00001
|
NM_002972.4(SBF1):c.2919G>T (p.Val973=)
|
rs777197676
|
0.00001
|
NM_002972.4(SBF1):c.3009C>T (p.Ser1003=)
|
rs752939799
|
0.00001
|
NM_002972.4(SBF1):c.3012C>T (p.Ala1004=)
|
rs774740390
|
0.00001
|
NM_002972.4(SBF1):c.3054G>T (p.Pro1018=)
|
rs544622584
|
0.00001
|
NM_002972.4(SBF1):c.3146+15C>T
|
rs776273423
|
0.00001
|
NM_002972.4(SBF1):c.3146+17C>T
|
rs576012438
|
0.00001
|
NM_002972.4(SBF1):c.3146+9C>T
|
rs145856921
|
0.00001
|
NM_002972.4(SBF1):c.3255C>G (p.Pro1085=)
|
rs1460856875
|
0.00001
|
NM_002972.4(SBF1):c.3310C>T (p.Leu1104=)
|
rs1242393254
|
0.00001
|
NM_002972.4(SBF1):c.3342C>T (p.Asp1114=)
|
rs764398518
|
0.00001
|
NM_002972.4(SBF1):c.3462G>T (p.Pro1154=)
|
rs371815025
|
0.00001
|
NM_002972.4(SBF1):c.3491+10G>A
|
rs1353429792
|
0.00001
|
NM_002972.4(SBF1):c.3492-11C>T
|
rs568569627
|
0.00001
|
NM_002972.4(SBF1):c.3534C>T (p.Asn1178=)
|
rs755877228
|
0.00001
|
NM_002972.4(SBF1):c.3689-15C>T
|
rs767522366
|
0.00001
|
NM_002972.4(SBF1):c.3705C>T (p.Asp1235=)
|
rs1173425684
|
0.00001
|
NM_002972.4(SBF1):c.3831C>T (p.Pro1277=)
|
rs1603431528
|
0.00001
|
NM_002972.4(SBF1):c.3885C>T (p.Ser1295=)
|
rs1016940493
|
0.00001
|
NM_002972.4(SBF1):c.3900C>G (p.Pro1300=)
|
rs776621303
|
0.00001
|
NM_002972.4(SBF1):c.3904+13G>T
|
rs748348068
|
0.00001
|
NM_002972.4(SBF1):c.39C>T (p.Phe13=)
|
rs1233981025
|
0.00001
|
NM_002972.4(SBF1):c.4008C>T (p.Asn1336=)
|
rs759875241
|
0.00001
|
NM_002972.4(SBF1):c.4087-9T>A
|
rs781361001
|
0.00001
|
NM_002972.4(SBF1):c.4146A>G (p.Ala1382=)
|
rs374868878
|
0.00001
|
NM_002972.4(SBF1):c.438+8C>T
|
rs753084512
|
0.00001
|
NM_002972.4(SBF1):c.439-20C>T
|
rs375091908
|
0.00001
|
NM_002972.4(SBF1):c.4432C>T (p.Leu1478=)
|
rs887777669
|
0.00001
|
NM_002972.4(SBF1):c.4545C>T (p.Cys1515=)
|
rs780031047
|
0.00001
|
NM_002972.4(SBF1):c.4555-14C>T
|
rs763797278
|
0.00001
|
NM_002972.4(SBF1):c.4555-20C>G
|
rs371564498
|
0.00001
|
NM_002972.4(SBF1):c.4682-6G>A
|
rs766238049
|
0.00001
|
NM_002972.4(SBF1):c.4725G>A (p.Pro1575=)
|
rs778315437
|
0.00001
|
NM_002972.4(SBF1):c.4812+14T>C
|
rs779920823
|
0.00001
|
NM_002972.4(SBF1):c.4816C>T (p.Leu1606=)
|
rs1205582390
|
0.00001
|
NM_002972.4(SBF1):c.4875G>A (p.Thr1625=)
|
rs749154070
|
0.00001
|
NM_002972.4(SBF1):c.4881C>T (p.Ala1627=)
|
rs777402255
|
0.00001
|
NM_002972.4(SBF1):c.4962C>G (p.Pro1654=)
|
rs748855502
|
0.00001
|
NM_002972.4(SBF1):c.5100C>G (p.Thr1700=)
|
rs371304311
|
0.00001
|
NM_002972.4(SBF1):c.5151+11G>A
|
rs1183801769
|
0.00001
|
NM_002972.4(SBF1):c.5232G>A (p.Val1744=)
|
rs766585033
|
0.00001
|
NM_002972.4(SBF1):c.5363+7G>A
|
rs1332870375
|
0.00001
|
NM_002972.4(SBF1):c.5373G>A (p.Glu1791=)
|
rs777513305
|
0.00001
|
NM_002972.4(SBF1):c.5535G>A (p.Thr1845=)
|
rs372974901
|
0.00001
|
NM_002972.4(SBF1):c.5565C>T (p.Asp1855=)
|
rs201685920
|
0.00001
|
NM_002972.4(SBF1):c.656-7C>T
|
rs900202772
|
0.00001
|
NM_002972.4(SBF1):c.666C>T (p.Asn222=)
|
rs756648227
|
0.00001
|
NM_002972.4(SBF1):c.822G>A (p.Leu274=)
|
rs765389414
|
0.00001
|
NM_002972.4(SBF1):c.846G>A (p.Thr282=)
|
rs1361181673
|
0.00001
|
NM_002972.4(SBF1):c.897+18T>C
|
rs189874764
|
0.00001
|
NM_002972.4(SBF1):c.1011+11C>T
|
|
|
NM_002972.4(SBF1):c.1012-11T>G
|
rs1354399222
|
|
NM_002972.4(SBF1):c.1012-15A>T
|
|
|
NM_002972.4(SBF1):c.1044C>T (p.Leu348=)
|
|
|
NM_002972.4(SBF1):c.1056G>T (p.Pro352=)
|
rs145862488
|
|
NM_002972.4(SBF1):c.1062G>A (p.Thr354=)
|
|
|
NM_002972.4(SBF1):c.1089+10G>A
|
|
|
NM_002972.4(SBF1):c.1089+13G>A
|
rs1433178335
|
|
NM_002972.4(SBF1):c.1089+20C>T
|
rs1171622800
|
|
NM_002972.4(SBF1):c.1089+7G>A
|
|
|
NM_002972.4(SBF1):c.1089+9C>T
|
|
|
NM_002972.4(SBF1):c.1090-12C>G
|
|
|
NM_002972.4(SBF1):c.1090-4C>T
|
|
|
NM_002972.4(SBF1):c.1090-6T>G
|
|
|
NM_002972.4(SBF1):c.1098G>A (p.Glu366=)
|
|
|
NM_002972.4(SBF1):c.1125C>T (p.Phe375=)
|
|
|
NM_002972.4(SBF1):c.1131G>A (p.Gln377=)
|
rs1442820560
|
|
NM_002972.4(SBF1):c.1176C>T (p.His392=)
|
rs2148598601
|
|
NM_002972.4(SBF1):c.1179G>A (p.Pro393=)
|
|
|
NM_002972.4(SBF1):c.1188C>T (p.Val396=)
|
|
|
NM_002972.4(SBF1):c.1203+15G>C
|
|
|
NM_002972.4(SBF1):c.1203+17C>T
|
|
|
NM_002972.4(SBF1):c.1204-14C>T
|
|
|
NM_002972.4(SBF1):c.1204-15_1204-13del
|
rs1439169472
|
|
NM_002972.4(SBF1):c.1204-17C>T
|
|
|
NM_002972.4(SBF1):c.1204-20G>A
|
|
|
NM_002972.4(SBF1):c.1204-4C>T
|
|
|
NM_002972.4(SBF1):c.120A>T (p.Pro40=)
|
|
|
NM_002972.4(SBF1):c.1239C>T (p.Asp413=)
|
|
|
NM_002972.4(SBF1):c.1242T>C (p.Asp414=)
|
|
|
NM_002972.4(SBF1):c.1287G>T (p.Val429=)
|
rs2148598105
|
|
NM_002972.4(SBF1):c.1323G>A (p.Leu441=)
|
|
|
NM_002972.4(SBF1):c.1329T>C (p.Asp443=)
|
|
|
NM_002972.4(SBF1):c.1332+7C>T
|
|
|
NM_002972.4(SBF1):c.1333-15T>C
|
|
|
NM_002972.4(SBF1):c.1333-16C>A
|
|
|
NM_002972.4(SBF1):c.1333-16C>T
|
|
|
NM_002972.4(SBF1):c.1333-18T>A
|
|
|
NM_002972.4(SBF1):c.1333-5G>A
|
|
|
NM_002972.4(SBF1):c.1333-6C>G
|
rs781476014
|
|
NM_002972.4(SBF1):c.1333-6C>T
|
rs781476014
|
|
NM_002972.4(SBF1):c.1333-7C>T
|
|
|
NM_002972.4(SBF1):c.135C>T (p.Ile45=)
|
|
|
NM_002972.4(SBF1):c.138G>A (p.Glu46=)
|
|
|
NM_002972.4(SBF1):c.1398C>T (p.His466=)
|
|
|
NM_002972.4(SBF1):c.141+14G>C
|
rs371153930
|
|
NM_002972.4(SBF1):c.141+8G>A
|
|
|
NM_002972.4(SBF1):c.141+9G>C
|
|
|
NM_002972.4(SBF1):c.142-8C>T
|
|
|
NM_002972.4(SBF1):c.1431+16G>C
|
|
|
NM_002972.4(SBF1):c.1431+18C>T
|
|
|
NM_002972.4(SBF1):c.1431+19G>A
|
|
|
NM_002972.4(SBF1):c.1432-20C>T
|
rs1194632724
|
|
NM_002972.4(SBF1):c.1432-6C>T
|
|
|
NM_002972.4(SBF1):c.1432-7C>T
|
|
|
NM_002972.4(SBF1):c.1440G>A (p.Pro480=)
|
|
|
NM_002972.4(SBF1):c.1443C>T (p.Tyr481=)
|
|
|
NM_002972.4(SBF1):c.1467A>C (p.Val489=)
|
rs2148597056
|
|
NM_002972.4(SBF1):c.1476C>T (p.Pro492=)
|
|
|
NM_002972.4(SBF1):c.1512C>T (p.Pro504=)
|
|
|
NM_002972.4(SBF1):c.1548C>T (p.Ile516=)
|
|
|
NM_002972.4(SBF1):c.1566C>T (p.Ala522=)
|
|
|
NM_002972.4(SBF1):c.1599C>T (p.Ala533=)
|
|
|
NM_002972.4(SBF1):c.159G>C (p.Gly53=)
|
|
|
NM_002972.4(SBF1):c.1611C>T (p.Thr537=)
|
|
|
NM_002972.4(SBF1):c.1636+11A>C
|
|
|
NM_002972.4(SBF1):c.1636+16G>A
|
|
|
NM_002972.4(SBF1):c.1636+17G>A
|
|
|
NM_002972.4(SBF1):c.1637-12C>G
|
|
|
NM_002972.4(SBF1):c.1637-23GT[3]
|
|
|
NM_002972.4(SBF1):c.1637-5C>G
|
|
|
NM_002972.4(SBF1):c.1637-7C>T
|
|
|
NM_002972.4(SBF1):c.1645C>T (p.Leu549=)
|
|
|
NM_002972.4(SBF1):c.1662G>T (p.Gly554=)
|
|
|
NM_002972.4(SBF1):c.1680C>T (p.Ala560=)
|
rs753397998
|
|
NM_002972.4(SBF1):c.1707C>T (p.Cys569=)
|
|
|
NM_002972.4(SBF1):c.1713C>T (p.Ser571=)
|
|
|
NM_002972.4(SBF1):c.1731A>G (p.Lys577=)
|
|
|
NM_002972.4(SBF1):c.1749+19C>T
|
|
|
NM_002972.4(SBF1):c.1749+7dup
|
|
|
NM_002972.4(SBF1):c.1749+9T>G
|
rs1603433467
|
|
NM_002972.4(SBF1):c.1750-4C>G
|
|
|
NM_002972.4(SBF1):c.1750-7C>T
|
|
|
NM_002972.4(SBF1):c.1782G>A (p.Gly594=)
|
|
|
NM_002972.4(SBF1):c.1797C>G (p.Arg599=)
|
|
|
NM_002972.4(SBF1):c.1821G>C (p.Leu607=)
|
|
|
NM_002972.4(SBF1):c.1827G>A (p.Val609=)
|
|
|
NM_002972.4(SBF1):c.1842G>A (p.Ala614=)
|
|
|
NM_002972.4(SBF1):c.1842G>T (p.Ala614=)
|
|
|
NM_002972.4(SBF1):c.1845C>G (p.Val615=)
|
|
|
NM_002972.4(SBF1):c.1863T>C (p.Phe621=)
|
|
|
NM_002972.4(SBF1):c.1866C>T (p.Asp622=)
|
|
|
NM_002972.4(SBF1):c.1899+8C>T
|
|
|
NM_002972.4(SBF1):c.1899+9T>A
|
|
|
NM_002972.4(SBF1):c.1900-13G>C
|
|
|
NM_002972.4(SBF1):c.1900-14C>T
|
|
|
NM_002972.4(SBF1):c.1900-7C>T
|
|
|
NM_002972.4(SBF1):c.1911T>G (p.Ser637=)
|
rs1414893001
|
|
NM_002972.4(SBF1):c.1941G>A (p.Leu647=)
|
|
|
NM_002972.4(SBF1):c.1959C>A (p.Ala653=)
|
|
|
NM_002972.4(SBF1):c.195C>T (p.Phe65=)
|
|
|
NM_002972.4(SBF1):c.1966C>A (p.Arg656=)
|
|
|
NM_002972.4(SBF1):c.1968+16del
|
|
|
NM_002972.4(SBF1):c.1968+17C>T
|
|
|
NM_002972.4(SBF1):c.1969-10G>A
|
|
|
NM_002972.4(SBF1):c.1969-16C>T
|
|
|
NM_002972.4(SBF1):c.1969-19del
|
|
|
NM_002972.4(SBF1):c.1969-9C>T
|
|
|
NM_002972.4(SBF1):c.1989G>A (p.Thr663=)
|
|
|
NM_002972.4(SBF1):c.2001C>T (p.Tyr667=)
|
rs2067570489
|
|
NM_002972.4(SBF1):c.2025G>A (p.Val675=)
|
|
|
NM_002972.4(SBF1):c.2049G>A (p.Glu683=)
|
|
|
NM_002972.4(SBF1):c.2052C>T (p.Ala684=)
|
|
|
NM_002972.4(SBF1):c.2061T>C (p.Tyr687=)
|
|
|
NM_002972.4(SBF1):c.2070G>T (p.Val690=)
|
|
|
NM_002972.4(SBF1):c.207C>T (p.Val69=)
|
rs1603434417
|
|
NM_002972.4(SBF1):c.2109G>A (p.Glu703=)
|
|
|
NM_002972.4(SBF1):c.2121C>A (p.Pro707=)
|
rs768622629
|
|
NM_002972.4(SBF1):c.2121C>G (p.Pro707=)
|
rs768622629
|
|
NM_002972.4(SBF1):c.2121C>T (p.Pro707=)
|
rs768622629
|
|
NM_002972.4(SBF1):c.2127+17T>C
|
|
|
NM_002972.4(SBF1):c.2127+8G>A
|
|
|
NM_002972.4(SBF1):c.2127+9G>A
|
|
|
NM_002972.4(SBF1):c.2128-13G>C
|
|
|
NM_002972.4(SBF1):c.2128-15G>A
|
|
|
NM_002972.4(SBF1):c.2128-17G>T
|
|
|
NM_002972.4(SBF1):c.2128-18C>T
|
rs752195167
|
|
NM_002972.4(SBF1):c.2128-8C>T
|
|
|
NM_002972.4(SBF1):c.2139G>A (p.Glu713=)
|
|
|
NM_002972.4(SBF1):c.2172A>G (p.Leu724=)
|
|
|
NM_002972.4(SBF1):c.2205A>G (p.Pro735=)
|
rs1156846084
|
|
NM_002972.4(SBF1):c.2238G>C (p.Val746=)
|
|
|
NM_002972.4(SBF1):c.2253C>T (p.Ser751=)
|
|
|
NM_002972.4(SBF1):c.225C>T (p.Ser75=)
|
|
|
NM_002972.4(SBF1):c.2288G>T (p.Arg763Leu)
|
|
|
NM_002972.4(SBF1):c.2334A>G (p.Leu778=)
|
|
|
NM_002972.4(SBF1):c.2349C>T (p.Ala783=)
|
|
|
NM_002972.4(SBF1):c.2358C>T (p.Gly786=)
|
|
|
NM_002972.4(SBF1):c.2396+14T>C
|
|
|
NM_002972.4(SBF1):c.2396+15G>A
|
rs777641563
|
|
NM_002972.4(SBF1):c.2397-9C>G
|
|
|
NM_002972.4(SBF1):c.240C>T (p.Cys80=)
|
|
|
NM_002972.4(SBF1):c.2415C>A (p.Ala805=)
|
|
|
NM_002972.4(SBF1):c.2415C>T (p.Ala805=)
|
rs369244386
|
|
NM_002972.4(SBF1):c.2421C>T (p.Ser807=)
|
rs772966203
|
|
NM_002972.4(SBF1):c.2442C>T (p.Phe814=)
|
|
|
NM_002972.4(SBF1):c.2451A>G (p.Ala817=)
|
rs756420605
|
|
NM_002972.4(SBF1):c.2457C>A (p.Thr819=)
|
|
|
NM_002972.4(SBF1):c.2457C>G (p.Thr819=)
|
|
|
NM_002972.4(SBF1):c.2457C>T (p.Thr819=)
|
rs755318372
|
|
NM_002972.4(SBF1):c.2466A>C (p.Val822=)
|
|
|
NM_002972.4(SBF1):c.2481C>T (p.Val827=)
|
|
|
NM_002972.4(SBF1):c.2511C>T (p.Val837=)
|
|
|
NM_002972.4(SBF1):c.2559C>T (p.Val853=)
|
|
|
NM_002972.4(SBF1):c.2569+10T>C
|
|
|
NM_002972.4(SBF1):c.2569+14G>T
|
rs1218094885
|
|
NM_002972.4(SBF1):c.2569+9G>A
|
|
|
NM_002972.4(SBF1):c.2570-14C>T
|
|
|
NM_002972.4(SBF1):c.2570-18A>G
|
rs1248764299
|
|
NM_002972.4(SBF1):c.2570-8T>C
|
|
|
NM_002972.4(SBF1):c.2577C>T (p.Val859=)
|
|
|
NM_002972.4(SBF1):c.2598G>A (p.Leu866=)
|
|
|
NM_002972.4(SBF1):c.2622G>A (p.Arg874=)
|
|
|
NM_002972.4(SBF1):c.2631G>A (p.Pro877=)
|
rs748830273
|
|
NM_002972.4(SBF1):c.2637C>A (p.Ile879=)
|
|
|
NM_002972.4(SBF1):c.2640G>A (p.Gln880=)
|
|
|
NM_002972.4(SBF1):c.2643+11G>A
|
|
|
NM_002972.4(SBF1):c.2643+14_2643+31del
|
rs1405564165
|
|
NM_002972.4(SBF1):c.2643+8G>C
|
rs2148589406
|
|
NM_002972.4(SBF1):c.2643+9G>C
|
|
|
NM_002972.4(SBF1):c.2644-6G>A
|
rs540628178
|
|
NM_002972.4(SBF1):c.2644-7C>G
|
|
|
NM_002972.4(SBF1):c.2644-9T>C
|
|
|
NM_002972.4(SBF1):c.2656C>A (p.Arg886=)
|
|
|
NM_002972.4(SBF1):c.2661G>A (p.Pro887=)
|
rs773683768
|
|
NM_002972.4(SBF1):c.2661G>C (p.Pro887=)
|
|
|
NM_002972.4(SBF1):c.267G>A (p.Ala89=)
|
|
|
NM_002972.4(SBF1):c.2694C>T (p.Asp898=)
|
|
|
NM_002972.4(SBF1):c.2697C>T (p.Gly899=)
|
|
|
NM_002972.4(SBF1):c.2700G>A (p.Leu900=)
|
|
|
NM_002972.4(SBF1):c.2703C>A (p.Arg901=)
|
|
|
NM_002972.4(SBF1):c.2703C>T (p.Arg901=)
|
rs750851727
|
|
NM_002972.4(SBF1):c.2718G>A (p.Pro906=)
|
|
|
NM_002972.4(SBF1):c.2739G>A (p.Ala913=)
|
rs137999607
|
|
NM_002972.4(SBF1):c.2742G>A (p.Gly914=)
|
|
|
NM_002972.4(SBF1):c.279+16C>G
|
|
|
NM_002972.4(SBF1):c.279+8T>C
|
|
|
NM_002972.4(SBF1):c.2799G>A (p.Thr933=)
|
rs774121119
|
|
NM_002972.4(SBF1):c.2799G>T (p.Thr933=)
|
|
|
NM_002972.4(SBF1):c.280-12G>C
|
|
|
NM_002972.4(SBF1):c.280-17C>T
|
|
|
NM_002972.4(SBF1):c.280-8C>A
|
|
|
NM_002972.4(SBF1):c.2826C>G (p.Pro942=)
|
rs2148588723
|
|
NM_002972.4(SBF1):c.2835C>A (p.Pro945=)
|
rs1167982235
|
|
NM_002972.4(SBF1):c.2839+14CT[2]
|
rs1487283028
|
|
NM_002972.4(SBF1):c.2839+19T>C
|
|
|
NM_002972.4(SBF1):c.2840-10C>G
|
|
|
NM_002972.4(SBF1):c.2840-10C>T
|
|
|
NM_002972.4(SBF1):c.2840-16_2840-13del
|
|
|
NM_002972.4(SBF1):c.2840-18T>C
|
|
|
NM_002972.4(SBF1):c.2840-6C>G
|
rs770221640
|
|
NM_002972.4(SBF1):c.2840-6C>T
|
rs770221640
|
|
NM_002972.4(SBF1):c.2853G>C (p.Val951=)
|
rs781766644
|
|
NM_002972.4(SBF1):c.285G>A (p.Thr95=)
|
|
|
NM_002972.4(SBF1):c.2871G>T (p.Pro957=)
|
|
|
NM_002972.4(SBF1):c.2877T>C (p.Ala959=)
|
|
|
NM_002972.4(SBF1):c.2904C>T (p.Ser968=)
|
|
|
NM_002972.4(SBF1):c.2907C>T (p.Val969=)
|
|
|
NM_002972.4(SBF1):c.2925G>A (p.Gln975=)
|
|
|
NM_002972.4(SBF1):c.2934G>A (p.Gln978=)
|
|
|
NM_002972.4(SBF1):c.2947C>T (p.Leu983=)
|
|
|
NM_002972.4(SBF1):c.2952C>G (p.Arg984=)
|
|
|
NM_002972.4(SBF1):c.2952C>T (p.Arg984=)
|
rs369020162
|
|
NM_002972.4(SBF1):c.2955C>T (p.Ser985=)
|
|
|
NM_002972.4(SBF1):c.2964C>T (p.Phe988=)
|
|
|
NM_002972.4(SBF1):c.2967+10G>A
|
|
|
NM_002972.4(SBF1):c.2967+14C>T
|
|
|
NM_002972.4(SBF1):c.2967+16C>A
|
|
|
NM_002972.4(SBF1):c.2967+9C>A
|
rs115010488
|
|
NM_002972.4(SBF1):c.2968-11T>C
|
|
|
NM_002972.4(SBF1):c.2968-16G>A
|
|
|
NM_002972.4(SBF1):c.2968-20_2968-19del
|
rs2148586534
|
|
NM_002972.4(SBF1):c.3054G>A (p.Pro1018=)
|
rs544622584
|
|
NM_002972.4(SBF1):c.3054G>C (p.Pro1018=)
|
|
|
NM_002972.4(SBF1):c.3114G>A (p.Pro1038=)
|
|
|
NM_002972.4(SBF1):c.3114G>T (p.Pro1038=)
|
|
|
NM_002972.4(SBF1):c.3120C>G (p.Val1040=)
|
rs1268389876
|
|
NM_002972.4(SBF1):c.3146+12G>A
|
|
|
NM_002972.4(SBF1):c.3146+12G>T
|
|
|
NM_002972.4(SBF1):c.3147-11G>T
|
|
|
NM_002972.4(SBF1):c.3147-12C>T
|
|
|
NM_002972.4(SBF1):c.3147-13_3147-12del
|
rs2148585696
|
|
NM_002972.4(SBF1):c.3147-16C>T
|
|
|
NM_002972.4(SBF1):c.3147-17A>C
|
|
|
NM_002972.4(SBF1):c.3147-6C>T
|
rs772348264
|
|
NM_002972.4(SBF1):c.3156C>T (p.Ser1052=)
|
|
|
NM_002972.4(SBF1):c.3159G>T (p.Arg1053=)
|
rs930212857
|
|
NM_002972.4(SBF1):c.3183G>A (p.Lys1061=)
|
|
|
NM_002972.4(SBF1):c.3189C>T (p.Ile1063=)
|
|
|
NM_002972.4(SBF1):c.3192G>A (p.Gly1064=)
|
|
|
NM_002972.4(SBF1):c.3204C>T (p.Val1068=)
|
|
|
NM_002972.4(SBF1):c.3210C>A (p.Arg1070=)
|
|
|
NM_002972.4(SBF1):c.321G>A (p.Glu107=)
|
|
|
NM_002972.4(SBF1):c.3222C>T (p.Asn1074=)
|
|
|
NM_002972.4(SBF1):c.3225C>A (p.Pro1075=)
|
|
|
NM_002972.4(SBF1):c.3279C>T (p.Ile1093=)
|
|
|
NM_002972.4(SBF1):c.3283+11G>A
|
rs756861519
|
|
NM_002972.4(SBF1):c.3283+11G>C
|
|
|
NM_002972.4(SBF1):c.3283+11G>T
|
|
|
NM_002972.4(SBF1):c.3283+14G>A
|
|
|
NM_002972.4(SBF1):c.3284-19G>A
|
|
|
NM_002972.4(SBF1):c.3284-8C>G
|
|
|
NM_002972.4(SBF1):c.3284-9C>T
|
|
|
NM_002972.4(SBF1):c.3288G>A (p.Ser1096=)
|
|
|
NM_002972.4(SBF1):c.3336C>T (p.Pro1112=)
|
|
|
NM_002972.4(SBF1):c.3339C>G (p.Ser1113=)
|
rs149160974
|
|
NM_002972.4(SBF1):c.3372G>A (p.Arg1124=)
|
|
|
NM_002972.4(SBF1):c.3384C>T (p.Arg1128=)
|
rs367546828
|
|
NM_002972.4(SBF1):c.3396C>T (p.Arg1132=)
|
|
|
NM_002972.4(SBF1):c.3447C>G (p.Pro1149=)
|
rs757428621
|
|
NM_002972.4(SBF1):c.3462G>A (p.Pro1154=)
|
|
|
NM_002972.4(SBF1):c.3468C>T (p.Asn1156=)
|
|
|
NM_002972.4(SBF1):c.3492-4_3492-3del
|
|
|
NM_002972.4(SBF1):c.3502C>T (p.Leu1168=)
|
|
|
NM_002972.4(SBF1):c.3510C>T (p.Ile1170=)
|
rs13056317
|
|
NM_002972.4(SBF1):c.3516C>T (p.Pro1172=)
|
|
|
NM_002972.4(SBF1):c.3522T>C (p.Ser1174=)
|
|
|
NM_002972.4(SBF1):c.3531C>T (p.Asp1177=)
|
|
|
NM_002972.4(SBF1):c.3546C>T (p.Arg1182=)
|
|
|
NM_002972.4(SBF1):c.357A>G (p.Thr119=)
|
rs2067825589
|
|
NM_002972.4(SBF1):c.3597C>T (p.Ser1199=)
|
|
|
NM_002972.4(SBF1):c.3612G>A (p.Ala1204=)
|
|
|
NM_002972.4(SBF1):c.3688+11C>T
|
|
|
NM_002972.4(SBF1):c.3688+12G>A
|
|
|
NM_002972.4(SBF1):c.3689-10C>T
|
rs1409287820
|
|
NM_002972.4(SBF1):c.3689-14G>A
|
|
|
NM_002972.4(SBF1):c.3689-7C>T
|
|
|
NM_002972.4(SBF1):c.3689-9C>A
|
|
|
NM_002972.4(SBF1):c.3689-9C>T
|
|
|
NM_002972.4(SBF1):c.36G>C (p.Ala12=)
|
|
|
NM_002972.4(SBF1):c.36G>T (p.Ala12=)
|
|
|
NM_002972.4(SBF1):c.3708G>A (p.Ser1236=)
|
|
|
NM_002972.4(SBF1):c.3711T>C (p.Ser1237=)
|
|
|
NM_002972.4(SBF1):c.3720G>A (p.Glu1240=)
|
|
|
NM_002972.4(SBF1):c.3726G>A (p.Glu1242=)
|
rs2067399956
|
|
NM_002972.4(SBF1):c.3735G>A (p.Leu1245=)
|
rs745501300
|
|
NM_002972.4(SBF1):c.3777G>A (p.Ser1259=)
|
rs373494342
|
|
NM_002972.4(SBF1):c.3789G>A (p.Thr1263=)
|
|
|
NM_002972.4(SBF1):c.3798C>T (p.Gly1266=)
|
|
|
NM_002972.4(SBF1):c.3813C>T (p.His1271=)
|
rs1603432066
|
|
NM_002972.4(SBF1):c.3826+14T>A
|
|
|
NM_002972.4(SBF1):c.3826+17del
|
rs758414858
|
|
NM_002972.4(SBF1):c.3827-12C>G
|
|
|
NM_002972.4(SBF1):c.3827-12C>T
|
|
|
NM_002972.4(SBF1):c.3827-18T>C
|
|
|
NM_002972.4(SBF1):c.3827-19CT[2]
|
rs767206713
|
|
NM_002972.4(SBF1):c.3855G>A (p.Thr1285=)
|
|
|
NM_002972.4(SBF1):c.3867C>A (p.Pro1289=)
|
rs372307321
|
|
NM_002972.4(SBF1):c.3894C>T (p.Thr1298=)
|
|
|
NM_002972.4(SBF1):c.3901C>A (p.Arg1301=)
|
rs763953503
|
|
NM_002972.4(SBF1):c.3904+10C>T
|
|
|
NM_002972.4(SBF1):c.3904+11G>A
|
|
|
NM_002972.4(SBF1):c.3904+16T>C
|
|
|
NM_002972.4(SBF1):c.3904+17G>T
|
|
|
NM_002972.4(SBF1):c.3904+19G>T
|
|
|
NM_002972.4(SBF1):c.3904+20C>T
|
|
|
NM_002972.4(SBF1):c.3904+9C>G
|
|
|
NM_002972.4(SBF1):c.3905-11C>A
|
rs1294852344
|
|
NM_002972.4(SBF1):c.3905-14C>T
|
|
|
NM_002972.4(SBF1):c.3905-18C>G
|
|
|
NM_002972.4(SBF1):c.3906T>A (p.Gly1302=)
|
|
|
NM_002972.4(SBF1):c.3918T>C (p.Ser1306=)
|
|
|
NM_002972.4(SBF1):c.3963C>T (p.Gly1321=)
|
|
|
NM_002972.4(SBF1):c.396G>A (p.Thr132=)
|
|
|
NM_002972.4(SBF1):c.3975T>G (p.Ala1325=)
|
|
|
NM_002972.4(SBF1):c.4002G>A (p.Gln1334=)
|
|
|
NM_002972.4(SBF1):c.4032C>T (p.Phe1344=)
|
|
|
NM_002972.4(SBF1):c.4041G>T (p.Pro1347=)
|
rs560672186
|
|
NM_002972.4(SBF1):c.4053C>T (p.Ala1351=)
|
|
|
NM_002972.4(SBF1):c.4077C>T (p.Ala1359=)
|
|
|
NM_002972.4(SBF1):c.4086+10G>C
|
|
|
NM_002972.4(SBF1):c.4086+14G>T
|
|
|
NM_002972.4(SBF1):c.4086+18G>A
|
|
|
NM_002972.4(SBF1):c.4086+19G>A
|
|
|
NM_002972.4(SBF1):c.4087-14C>G
|
|
|
NM_002972.4(SBF1):c.4087-14C>T
|
rs372953690
|
|
NM_002972.4(SBF1):c.4087-4T>C
|
rs755057390
|
|
NM_002972.4(SBF1):c.4105C>T (p.Leu1369=)
|
|
|
NM_002972.4(SBF1):c.411G>A (p.Ser137=)
|
|
|
NM_002972.4(SBF1):c.4128C>T (p.Pro1376=)
|
|
|
NM_002972.4(SBF1):c.4140C>T (p.Phe1380=)
|
rs760115907
|
|
NM_002972.4(SBF1):c.4152G>A (p.Gln1384=)
|
|
|
NM_002972.4(SBF1):c.417C>G (p.Leu139=)
|
rs561411708
|
|
NM_002972.4(SBF1):c.4185A>T (p.Ala1395=)
|
|
|
NM_002972.4(SBF1):c.4191C>T (p.Val1397=)
|
|
|
NM_002972.4(SBF1):c.4194A>G (p.Pro1398=)
|
rs2067243144
|
|
NM_002972.4(SBF1):c.4266+10C>T
|
|
|
NM_002972.4(SBF1):c.4266+20C>T
|
|
|
NM_002972.4(SBF1):c.4267-16C>T
|
|
|
NM_002972.4(SBF1):c.4267-4G>C
|
|
|
NM_002972.4(SBF1):c.4272C>T (p.His1424=)
|
rs2148571306
|
|
NM_002972.4(SBF1):c.4309C>T (p.Leu1437=)
|
|
|
NM_002972.4(SBF1):c.4339C>T (p.Leu1447=)
|
rs1436948523
|
|
NM_002972.4(SBF1):c.4365C>T (p.Thr1455=)
|
|
|
NM_002972.4(SBF1):c.4368+10G>A
|
|
|
NM_002972.4(SBF1):c.4368+12G>A
|
|
|
NM_002972.4(SBF1):c.4368+15G>A
|
|
|
NM_002972.4(SBF1):c.4369-10G>T
|
rs1305748004
|
|
NM_002972.4(SBF1):c.4369-11G>C
|
rs199878169
|
|
NM_002972.4(SBF1):c.4369-11G>T
|
|
|
NM_002972.4(SBF1):c.4369-18T>A
|
|
|
NM_002972.4(SBF1):c.4369-6T>C
|
|
|
NM_002972.4(SBF1):c.4371G>A (p.Val1457=)
|
rs2148570861
|
|
NM_002972.4(SBF1):c.438+12A>C
|
|
|
NM_002972.4(SBF1):c.438+15C>T
|
|
|
NM_002972.4(SBF1):c.438+16G>A
|
|
|
NM_002972.4(SBF1):c.438+9G>A
|
|
|
NM_002972.4(SBF1):c.4389G>A (p.Leu1463=)
|
rs960860429
|
|
NM_002972.4(SBF1):c.4389G>T (p.Leu1463=)
|
|
|
NM_002972.4(SBF1):c.439-16G>A
|
|
|
NM_002972.4(SBF1):c.4395A>G (p.Ser1465=)
|
|
|
NM_002972.4(SBF1):c.4401C>T (p.Pro1467=)
|
rs11540935
|
|
NM_002972.4(SBF1):c.4414C>T (p.Leu1472=)
|
rs1479719064
|
|
NM_002972.4(SBF1):c.4426C>G (p.Arg1476Gly)
|
rs148111223
|
|
NM_002972.4(SBF1):c.4434G>C (p.Leu1478=)
|
|
|
NM_002972.4(SBF1):c.444C>T (p.Ser148=)
|
|
|
NM_002972.4(SBF1):c.4461C>T (p.Gly1487=)
|
|
|
NM_002972.4(SBF1):c.4488C>T (p.His1496=)
|
rs996454058
|
|
NM_002972.4(SBF1):c.4491C>A (p.Thr1497=)
|
|
|
NM_002972.4(SBF1):c.4491C>T (p.Thr1497=)
|
|
|
NM_002972.4(SBF1):c.4497C>T (p.Ala1499=)
|
|
|
NM_002972.4(SBF1):c.4521C>A (p.Pro1507=)
|
rs534889802
|
|
NM_002972.4(SBF1):c.4527C>T (p.Phe1509=)
|
|
|
NM_002972.4(SBF1):c.453C>T (p.Leu151=)
|
|
|
NM_002972.4(SBF1):c.4554+11C>G
|
|
|
NM_002972.4(SBF1):c.4554+11C>T
|
|
|
NM_002972.4(SBF1):c.4554+12_4554+13insGGA
|
rs2148570303
|
|
NM_002972.4(SBF1):c.4554+14T>C
|
rs2148570281
|
|
NM_002972.4(SBF1):c.4554+16T>C
|
|
|
NM_002972.4(SBF1):c.4555-11A>G
|
|
|
NM_002972.4(SBF1):c.4555-4G>A
|
|
|
NM_002972.4(SBF1):c.4555-6G>A
|
rs551761301
|
|
NM_002972.4(SBF1):c.4555-7C>T
|
|
|
NM_002972.4(SBF1):c.4578G>A (p.Glu1526=)
|
|
|
NM_002972.4(SBF1):c.4611C>T (p.Leu1537=)
|
|
|
NM_002972.4(SBF1):c.4623T>C (p.His1541=)
|
|
|
NM_002972.4(SBF1):c.4647C>T (p.Phe1549=)
|
|
|
NM_002972.4(SBF1):c.465C>T (p.Ile155=)
|
|
|
NM_002972.4(SBF1):c.4671C>T (p.Arg1557=)
|
|
|
NM_002972.4(SBF1):c.4678C>T (p.Leu1560=)
|
|
|
NM_002972.4(SBF1):c.4681+12G>A
|
|
|
NM_002972.4(SBF1):c.4681+15G>A
|
|
|
NM_002972.4(SBF1):c.4682-17G>A
|
|
|
NM_002972.4(SBF1):c.4689G>T (p.Leu1563=)
|
|
|
NM_002972.4(SBF1):c.4692T>C (p.Tyr1564=)
|
|
|
NM_002972.4(SBF1):c.4704G>A (p.Gly1568=)
|
|
|
NM_002972.4(SBF1):c.4746T>C (p.Tyr1582=)
|
|
|
NM_002972.4(SBF1):c.4752C>T (p.Asp1584=)
|
|
|
NM_002972.4(SBF1):c.4770G>A (p.Thr1590=)
|
|
|
NM_002972.4(SBF1):c.4797G>T (p.Ala1599=)
|
rs771134293
|
|
NM_002972.4(SBF1):c.4800C>G (p.Pro1600=)
|
|
|
NM_002972.4(SBF1):c.4809A>G (p.Ala1603=)
|
|
|
NM_002972.4(SBF1):c.4812+17G>A
|
|
|
NM_002972.4(SBF1):c.4812+20G>A
|
|
|
NM_002972.4(SBF1):c.4836G>A (p.Val1612=)
|
rs2148568776
|
|
NM_002972.4(SBF1):c.483T>C (p.Asn161=)
|
|
|
NM_002972.4(SBF1):c.4842C>T (p.Asn1614=)
|
|
|
NM_002972.4(SBF1):c.4887C>A (p.Gly1629=)
|
rs752586432
|
|
NM_002972.4(SBF1):c.4941A>G (p.Glu1647=)
|
|
|
NM_002972.4(SBF1):c.501G>A (p.Val167=)
|
|
|
NM_002972.4(SBF1):c.5043+12C>T
|
|
|
NM_002972.4(SBF1):c.5044-17A>G
|
rs2066928758
|
|
NM_002972.4(SBF1):c.5044-7C>T
|
|
|
NM_002972.4(SBF1):c.5049G>A (p.Leu1683=)
|
|
|
NM_002972.4(SBF1):c.5055G>A (p.Arg1685=)
|
|
|
NM_002972.4(SBF1):c.5079C>T (p.Pro1693=)
|
|
|
NM_002972.4(SBF1):c.5130C>G (p.Leu1710=)
|
rs530167049
|
|
NM_002972.4(SBF1):c.5130C>T (p.Leu1710=)
|
|
|
NM_002972.4(SBF1):c.5151+10G>A
|
|
|
NM_002972.4(SBF1):c.5151+8_5151+10del
|
rs2148552936
|
|
NM_002972.4(SBF1):c.5152-16A>G
|
|
|
NM_002972.4(SBF1):c.5152-17C>T
|
|
|
NM_002972.4(SBF1):c.5184A>C (p.Ala1728=)
|
|
|
NM_002972.4(SBF1):c.519G>A (p.Thr173=)
|
|
|
NM_002972.4(SBF1):c.5203C>T (p.Leu1735=)
|
rs1603430317
|
|
NM_002972.4(SBF1):c.522C>T (p.Cys174=)
|
rs1257136315
|
|
NM_002972.4(SBF1):c.525T>C (p.Thr175=)
|
rs2067812432
|
|
NM_002972.4(SBF1):c.5274T>C (p.Ser1758=)
|
|
|
NM_002972.4(SBF1):c.528G>C (p.Val176=)
|
|
|
NM_002972.4(SBF1):c.5331C>T (p.Tyr1777=)
|
|
|
NM_002972.4(SBF1):c.5363+18A>G
|
|
|
NM_002972.4(SBF1):c.5363+20T>G
|
|
|
NM_002972.4(SBF1):c.5364-11T>C
|
rs1337498141
|
|
NM_002972.4(SBF1):c.5364-46_5364-18dup
|
|
|
NM_002972.4(SBF1):c.5364-4G>C
|
|
|
NM_002972.4(SBF1):c.5380C>T (p.Leu1794=)
|
|
|
NM_002972.4(SBF1):c.5382G>A (p.Leu1794=)
|
|
|
NM_002972.4(SBF1):c.5394G>A (p.Gly1798=)
|
|
|
NM_002972.4(SBF1):c.5394G>T (p.Gly1798=)
|
|
|
NM_002972.4(SBF1):c.5418C>T (p.Ala1806=)
|
|
|
NM_002972.4(SBF1):c.5451+10C>G
|
|
|
NM_002972.4(SBF1):c.5451+15G>C
|
|
|
NM_002972.4(SBF1):c.5451+16del
|
|
|
NM_002972.4(SBF1):c.5451+17T>G
|
rs766062407
|
|
NM_002972.4(SBF1):c.5451+18G>A
|
|
|
NM_002972.4(SBF1):c.5451+18G>C
|
|
|
NM_002972.4(SBF1):c.5451+18G>T
|
|
|
NM_002972.4(SBF1):c.5452-10C>A
|
|
|
NM_002972.4(SBF1):c.5452-8T>G
|
|
|
NM_002972.4(SBF1):c.5460C>T (p.Tyr1820=)
|
|
|
NM_002972.4(SBF1):c.549+9T>C
|
rs2067810887
|
|
NM_002972.4(SBF1):c.5499C>T (p.Ile1833=)
|
|
|
NM_002972.4(SBF1):c.55+12G>A
|
|
|
NM_002972.4(SBF1):c.55+13G>C
|
|
|
NM_002972.4(SBF1):c.55+15C>T
|
|
|
NM_002972.4(SBF1):c.55+17A>G
|
rs2148622381
|
|
NM_002972.4(SBF1):c.55+19C>T
|
|
|
NM_002972.4(SBF1):c.55+7_55+8delinsAT
|
rs2148622424
|
|
NM_002972.4(SBF1):c.55+8C>T
|
|
|
NM_002972.4(SBF1):c.550-14T>C
|
rs1253760267
|
|
NM_002972.4(SBF1):c.550-18A>G
|
|
|
NM_002972.4(SBF1):c.550-20C>G
|
rs190494661
|
|
NM_002972.4(SBF1):c.550-6C>G
|
|
|
NM_002972.4(SBF1):c.550-8T>G
|
|
|
NM_002972.4(SBF1):c.5553T>G (p.Pro1851=)
|
|
|
NM_002972.4(SBF1):c.555G>A (p.Thr185=)
|
rs766198779
|
|
NM_002972.4(SBF1):c.5583+11dup
|
|
|
NM_002972.4(SBF1):c.5583+7C>T
|
|
|
NM_002972.4(SBF1):c.5584-11C>T
|
|
|
NM_002972.4(SBF1):c.5584-12G>A
|
|
|
NM_002972.4(SBF1):c.5584-12G>C
|
rs772352383
|
|
NM_002972.4(SBF1):c.5584-13C>A
|
|
|
NM_002972.4(SBF1):c.5584-14C>T
|
|
|
NM_002972.4(SBF1):c.5584-15C>T
|
|
|
NM_002972.4(SBF1):c.5584-6C>T
|
|
|
NM_002972.4(SBF1):c.56-15T>C
|
|
|
NM_002972.4(SBF1):c.56-17C>G
|
|
|
NM_002972.4(SBF1):c.56-20C>T
|
|
|
NM_002972.4(SBF1):c.56-6C>T
|
|
|
NM_002972.4(SBF1):c.5601C>A (p.Arg1867=)
|
|
|
NM_002972.4(SBF1):c.5604T>G (p.Val1868=)
|
rs141053122
|
|
NM_002972.4(SBF1):c.5634G>A (p.Ser1878=)
|
|
|
NM_002972.4(SBF1):c.5637C>G (p.Ala1879=)
|
|
|
NM_002972.4(SBF1):c.5664C>T (p.Ser1888=)
|
|
|
NM_002972.4(SBF1):c.597A>C (p.Pro199=)
|
rs373887418
|
|
NM_002972.4(SBF1):c.597A>G (p.Pro199=)
|
rs373887418
|
|
NM_002972.4(SBF1):c.624C>G (p.Arg208=)
|
|
|
NM_002972.4(SBF1):c.627C>T (p.Cys209=)
|
|
|
NM_002972.4(SBF1):c.648C>T (p.Arg216=)
|
|
|
NM_002972.4(SBF1):c.655+20C>G
|
|
|
NM_002972.4(SBF1):c.655+20C>T
|
rs1266061885
|
|
NM_002972.4(SBF1):c.655+9G>A
|
rs1168294961
|
|
NM_002972.4(SBF1):c.655+9G>C
|
rs1168294961
|
|
NM_002972.4(SBF1):c.656-13C>T
|
rs995797510
|
|
NM_002972.4(SBF1):c.656-15C>G
|
rs747707125
|
|
NM_002972.4(SBF1):c.656-15C>T
|
|
|
NM_002972.4(SBF1):c.656-15_656-13del
|
|
|
NM_002972.4(SBF1):c.656-18C>T
|
|
|
NM_002972.4(SBF1):c.656-6C>G
|
rs1335962200
|
|
NM_002972.4(SBF1):c.656-6C>T
|
|
|
NM_002972.4(SBF1):c.681C>T (p.Phe227=)
|
|
|
NM_002972.4(SBF1):c.687C>T (p.Ala229=)
|
|
|
NM_002972.4(SBF1):c.738C>G (p.Leu246=)
|
|
|
NM_002972.4(SBF1):c.738C>T (p.Leu246=)
|
rs374299843
|
|
NM_002972.4(SBF1):c.753G>A (p.Arg251=)
|
|
|
NM_002972.4(SBF1):c.756C>T (p.Gly252=)
|
|
|
NM_002972.4(SBF1):c.774T>C (p.Phe258=)
|
|
|
NM_002972.4(SBF1):c.788+13C>T
|
|
|
NM_002972.4(SBF1):c.788+14G>A
|
|
|
NM_002972.4(SBF1):c.788+16C>T
|
|
|
NM_002972.4(SBF1):c.788+18C>T
|
|
|
NM_002972.4(SBF1):c.789-10G>A
|
|
|
NM_002972.4(SBF1):c.87G>A (p.Gln29=)
|
|
|
NM_002972.4(SBF1):c.891G>A (p.Gln297=)
|
rs921406130
|
|
NM_002972.4(SBF1):c.897+10G>A
|
|
|
NM_002972.4(SBF1):c.898-11T>G
|
|
|
NM_002972.4(SBF1):c.898-12C>T
|
|
|
NM_002972.4(SBF1):c.898-5C>T
|
|
|
NM_002972.4(SBF1):c.900C>G (p.Leu300=)
|
rs372394461
|
|
NM_002972.4(SBF1):c.900C>T (p.Leu300=)
|
|
|
NM_002972.4(SBF1):c.903T>C (p.Asp301=)
|
|
|
NM_002972.4(SBF1):c.919C>G (p.Leu307Val)
|
|
|
NM_002972.4(SBF1):c.96A>G (p.Pro32=)
|
|
|
NM_002972.4(SBF1):c.972A>G (p.Pro324=)
|
|
|
NM_002972.4(SBF1):c.993G>A (p.Thr331=)
|
|
|
NM_002972.4(SBF1):c.9G>A (p.Arg3=)
|
|
|