ClinVar Miner

List of variants in gene SBF1 reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 804
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HGVS dbSNP gnomAD frequency
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=)

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