NM_000057.4(BLM):c.11T>C (p.Val4Ala)
|
rs144706057
|
0.00102
|
NM_000057.4(BLM):c.3879A>G (p.Glu1293=)
|
rs28377085
|
0.00098
|
NM_000057.4(BLM):c.968A>G (p.Lys323Arg)
|
rs146504061
|
0.00056
|
NM_000057.4(BLM):c.645C>T (p.Ser215=)
|
rs56218710
|
0.00045
|
NM_000057.4(BLM):c.43C>T (p.Arg15Cys)
|
rs148545569
|
0.00029
|
NM_000057.4(BLM):c.191A>T (p.Asp64Val)
|
rs140382474
|
0.00026
|
NM_000057.4(BLM):c.4220G>A (p.Arg1407Lys)
|
rs557057587
|
0.00023
|
NM_000057.4(BLM):c.1927C>T (p.Arg643Cys)
|
rs373090621
|
0.00018
|
NM_000057.4(BLM):c.3397A>G (p.Lys1133Glu)
|
rs145027663
|
0.00016
|
NM_000057.4(BLM):c.274A>G (p.Asn92Asp)
|
rs200690226
|
0.00015
|
NM_000057.4(BLM):c.1702G>C (p.Glu568Gln)
|
rs1360373872
|
0.00014
|
NM_000057.4(BLM):c.842A>C (p.His281Pro)
|
rs202042636
|
0.00014
|
NM_000057.4(BLM):c.1519G>A (p.Glu507Lys)
|
rs192491153
|
0.00013
|
NM_000057.4(BLM):c.3044C>T (p.Thr1015Ile)
|
rs202196488
|
0.00013
|
NM_000057.4(BLM):c.3828G>A (p.Ala1276=)
|
rs369383272
|
0.00013
|
NM_000057.4(BLM):c.1087G>A (p.Ala363Thr)
|
rs200364297
|
0.00012
|
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys)
|
rs139610577
|
0.00012
|
NM_000057.4(BLM):c.1097T>C (p.Ile366Thr)
|
rs571152089
|
0.00011
|
NM_000057.4(BLM):c.2839A>G (p.Ile947Val)
|
rs189925962
|
0.00010
|
NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly)
|
rs150631940
|
0.00010
|
NM_000057.4(BLM):c.2293G>A (p.Val765Ile)
|
rs191789336
|
0.00009
|
NM_000057.4(BLM):c.3310G>A (p.Gly1104Ser)
|
rs141269464
|
0.00008
|
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys)
|
rs140387675
|
0.00008
|
NM_000057.4(BLM):c.1495T>A (p.Ser499Thr)
|
rs371965329
|
0.00007
|
NM_000057.4(BLM):c.2720C>T (p.Thr907Met)
|
rs367953471
|
0.00007
|
NM_000057.4(BLM):c.3358G>A (p.Gly1120Arg)
|
rs139773499
|
0.00007
|
NM_000057.4(BLM):c.1237G>A (p.Glu413Lys)
|
rs887921909
|
0.00006
|
NM_000057.4(BLM):c.1838C>T (p.Thr613Ile)
|
rs550417200
|
0.00006
|
NM_000057.4(BLM):c.1931T>A (p.Phe644Tyr)
|
rs371023654
|
0.00006
|
NM_000057.4(BLM):c.2237C>T (p.Ala746Val)
|
rs769498533
|
0.00006
|
NM_000057.4(BLM):c.2315C>T (p.Ala772Val)
|
rs765478171
|
0.00006
|
NM_000057.4(BLM):c.3062A>G (p.Asn1021Ser)
|
rs369629509
|
0.00006
|
NM_000057.4(BLM):c.3071A>G (p.Tyr1024Cys)
|
rs201676342
|
0.00006
|
NM_000057.4(BLM):c.4126A>G (p.Ile1376Val)
|
rs587779892
|
0.00006
|
NM_000057.4(BLM):c.542G>T (p.Ser181Ile)
|
rs587779893
|
0.00006
|
NM_000057.4(BLM):c.715G>A (p.Asp239Asn)
|
rs200756519
|
0.00006
|
NM_000057.4(BLM):c.800-3T>G
|
rs377266736
|
0.00006
|
NM_000057.4(BLM):c.1261G>A (p.Ala421Thr)
|
rs587779879
|
0.00005
|
NM_000057.4(BLM):c.1924G>A (p.Glu642Lys)
|
rs201458487
|
0.00005
|
NM_000057.4(BLM):c.3136G>A (p.Gly1046Ser)
|
rs373241803
|
0.00005
|
NM_000057.4(BLM):c.3229G>A (p.Val1077Met)
|
rs779096973
|
0.00005
|
NM_000057.4(BLM):c.361A>C (p.Thr121Pro)
|
rs774608080
|
0.00005
|
NM_000057.4(BLM):c.368A>G (p.Gln123Arg)
|
rs371223446
|
0.00005
|
NM_000057.4(BLM):c.371A>G (p.Asn124Ser)
|
rs770825975
|
0.00005
|
NM_000057.4(BLM):c.4077-5T>C
|
rs200653178
|
0.00005
|
NM_000057.4(BLM):c.1630G>A (p.Glu544Lys)
|
rs752494229
|
0.00004
|
NM_000057.4(BLM):c.226C>A (p.Pro76Thr)
|
rs768843912
|
0.00004
|
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys)
|
rs55880859
|
0.00004
|
NM_000057.4(BLM):c.2696G>A (p.Arg899Gln)
|
rs748054605
|
0.00004
|
NM_000057.4(BLM):c.2950G>A (p.Gly984Arg)
|
rs755784410
|
0.00004
|
NM_000057.4(BLM):c.3031G>A (p.Gly1011Arg)
|
rs370073229
|
0.00004
|
NM_000057.4(BLM):c.3210+2dup
|
rs755232267
|
0.00004
|
NM_000057.4(BLM):c.3556A>G (p.Lys1186Glu)
|
rs750532596
|
0.00004
|
NM_000057.4(BLM):c.3872C>T (p.Pro1291Leu)
|
rs373003917
|
0.00004
|
NM_000057.4(BLM):c.4061G>C (p.Gly1354Ala)
|
rs891751726
|
0.00004
|
NM_000057.4(BLM):c.722G>A (p.Gly241Asp)
|
rs200897029
|
0.00004
|
NM_000057.4(BLM):c.724C>T (p.Pro242Ser)
|
rs768513523
|
0.00004
|
NM_000057.4(BLM):c.98C>T (p.Ser33Leu)
|
rs139282091
|
0.00004
|
NM_000057.4(BLM):c.1387G>A (p.Val463Ile)
|
rs1028963834
|
0.00003
|
NM_000057.4(BLM):c.1396G>A (p.Gly466Arg)
|
rs747760482
|
0.00003
|
NM_000057.4(BLM):c.1544A>C (p.Asn515Thr)
|
rs765536045
|
0.00003
|
NM_000057.4(BLM):c.1936A>G (p.Ser646Gly)
|
rs370293537
|
0.00003
|
NM_000057.4(BLM):c.2594A>G (p.Tyr865Cys)
|
rs777842626
|
0.00003
|
NM_000057.4(BLM):c.2822A>G (p.Gln941Arg)
|
rs762267785
|
0.00003
|
NM_000057.4(BLM):c.2840T>C (p.Ile947Thr)
|
rs1024172175
|
0.00003
|
NM_000057.4(BLM):c.3422A>G (p.Asn1141Ser)
|
rs770370129
|
0.00003
|
NM_000057.4(BLM):c.4112C>T (p.Thr1371Met)
|
rs587779891
|
0.00003
|
NM_000057.4(BLM):c.4240T>C (p.Tyr1414His)
|
rs753800694
|
0.00003
|
NM_000057.4(BLM):c.1148T>C (p.Ile383Thr)
|
rs556577644
|
0.00002
|
NM_000057.4(BLM):c.1208A>G (p.Gln403Arg)
|
rs375342874
|
0.00002
|
NM_000057.4(BLM):c.1235C>T (p.Thr412Met)
|
rs775209685
|
0.00002
|
NM_000057.4(BLM):c.124T>C (p.Ser42Pro)
|
rs1291378382
|
0.00002
|
NM_000057.4(BLM):c.1864T>C (p.Ser622Pro)
|
rs1033751385
|
0.00002
|
NM_000057.4(BLM):c.1877A>T (p.Tyr626Phe)
|
rs374569385
|
0.00002
|
NM_000057.4(BLM):c.1964T>C (p.Met655Thr)
|
rs748567176
|
0.00002
|
NM_000057.4(BLM):c.203C>A (p.Thr68Asn)
|
rs144134597
|
0.00002
|
NM_000057.4(BLM):c.2078G>A (p.Gly693Asp)
|
rs771864442
|
0.00002
|
NM_000057.4(BLM):c.2171T>C (p.Val724Ala)
|
rs750687788
|
0.00002
|
NM_000057.4(BLM):c.2350T>A (p.Tyr784Asn)
|
rs779746222
|
0.00002
|
NM_000057.4(BLM):c.2434A>C (p.Lys812Gln)
|
rs763827222
|
0.00002
|
NM_000057.4(BLM):c.2552A>G (p.Gln851Arg)
|
rs1454270314
|
0.00002
|
NM_000057.4(BLM):c.2633G>C (p.Cys878Ser)
|
rs966788239
|
0.00002
|
NM_000057.4(BLM):c.2795A>G (p.Gln932Arg)
|
rs1427273201
|
0.00002
|
NM_000057.4(BLM):c.3305A>G (p.His1102Arg)
|
rs778994524
|
0.00002
|
NM_000057.4(BLM):c.3311G>A (p.Gly1104Asp)
|
rs150784889
|
0.00002
|
NM_000057.4(BLM):c.3751G>C (p.Glu1251Gln)
|
rs587779888
|
0.00002
|
NM_000057.4(BLM):c.3760T>G (p.Ser1254Ala)
|
rs781396294
|
0.00002
|
NM_000057.4(BLM):c.3770C>T (p.Pro1257Leu)
|
rs372134818
|
0.00002
|
NM_000057.4(BLM):c.3926G>C (p.Arg1309Thr)
|
rs1280067298
|
0.00002
|
NM_000057.4(BLM):c.395G>A (p.Arg132Gln)
|
rs775197136
|
0.00002
|
NM_000057.4(BLM):c.4016T>C (p.Met1339Thr)
|
rs761320085
|
0.00002
|
NM_000057.4(BLM):c.4237T>C (p.Ser1413Pro)
|
rs767443059
|
0.00002
|
NM_000057.4(BLM):c.467A>G (p.Asp156Gly)
|
rs772175681
|
0.00002
|
NM_000057.4(BLM):c.488C>T (p.Ser163Phe)
|
rs745819553
|
0.00002
|
NM_000057.4(BLM):c.493A>T (p.Thr165Ser)
|
rs769575660
|
0.00002
|
NM_000057.4(BLM):c.820A>T (p.Asn274Tyr)
|
rs750551907
|
0.00002
|
NM_000057.4(BLM):c.914C>G (p.Pro305Arg)
|
rs773421970
|
0.00002
|
NM_000057.4(BLM):c.918A>G (p.Glu306=)
|
rs760806762
|
0.00002
|
NM_000057.4(BLM):c.1006A>G (p.Ser336Gly)
|
rs1567037959
|
0.00001
|
NM_000057.4(BLM):c.1010C>T (p.Thr337Ile)
|
rs1176242752
|
0.00001
|
NM_000057.4(BLM):c.1027T>G (p.Ser343Ala)
|
rs776620199
|
0.00001
|
NM_000057.4(BLM):c.1032A>T (p.Lys344Asn)
|
rs148701303
|
0.00001
|
NM_000057.4(BLM):c.106A>G (p.Thr36Ala)
|
rs1714362154
|
0.00001
|
NM_000057.4(BLM):c.1117A>G (p.Ile373Val)
|
rs766212032
|
0.00001
|
NM_000057.4(BLM):c.1210C>T (p.Arg404Trp)
|
rs770721765
|
0.00001
|
NM_000057.4(BLM):c.1211G>A (p.Arg404Gln)
|
rs776516663
|
0.00001
|
NM_000057.4(BLM):c.1220+5C>G
|
rs1596229075
|
0.00001
|
NM_000057.4(BLM):c.1223G>A (p.Arg408Lys)
|
rs1338335954
|
0.00001
|
NM_000057.4(BLM):c.122C>T (p.Thr41Ile)
|
rs533736036
|
0.00001
|
NM_000057.4(BLM):c.1238A>T (p.Glu413Val)
|
rs1215111361
|
0.00001
|
NM_000057.4(BLM):c.1277C>T (p.Ser426Leu)
|
rs768127491
|
0.00001
|
NM_000057.4(BLM):c.1303C>T (p.Leu435Phe)
|
rs755256088
|
0.00001
|
NM_000057.4(BLM):c.1337C>A (p.Thr446Lys)
|
rs1447973805
|
0.00001
|
NM_000057.4(BLM):c.1412C>T (p.Thr471Ile)
|
rs1281556342
|
0.00001
|
NM_000057.4(BLM):c.1418C>T (p.Thr473Ile)
|
rs761284618
|
0.00001
|
NM_000057.4(BLM):c.1433G>C (p.Gly478Ala)
|
rs759810567
|
0.00001
|
NM_000057.4(BLM):c.1436T>G (p.Phe479Cys)
|
rs1418071613
|
0.00001
|
NM_000057.4(BLM):c.1459T>C (p.Phe487Leu)
|
rs765565919
|
0.00001
|
NM_000057.4(BLM):c.1480A>G (p.Thr494Ala)
|
rs1596229967
|
0.00001
|
NM_000057.4(BLM):c.1490A>G (p.Gln497Arg)
|
rs368547042
|
0.00001
|
NM_000057.4(BLM):c.1496C>T (p.Ser499Phe)
|
rs778700833
|
0.00001
|
NM_000057.4(BLM):c.1502T>A (p.Val501Glu)
|
rs1247170438
|
0.00001
|
NM_000057.4(BLM):c.1612G>C (p.Ala538Pro)
|
rs1318049766
|
0.00001
|
NM_000057.4(BLM):c.1613C>T (p.Ala538Val)
|
rs778593808
|
0.00001
|
NM_000057.4(BLM):c.1661A>T (p.Asp554Val)
|
rs1266070433
|
0.00001
|
NM_000057.4(BLM):c.1677T>A (p.Asp559Glu)
|
rs780794194
|
0.00001
|
NM_000057.4(BLM):c.1708A>T (p.Ile570Leu)
|
rs775758928
|
0.00001
|
NM_000057.4(BLM):c.1724C>T (p.Ala575Val)
|
rs774551420
|
0.00001
|
NM_000057.4(BLM):c.1751A>G (p.Tyr584Cys)
|
rs765187809
|
0.00001
|
NM_000057.4(BLM):c.1771C>T (p.Arg591Trp)
|
rs777647725
|
0.00001
|
NM_000057.4(BLM):c.1772G>A (p.Arg591Gln)
|
rs28385012
|
0.00001
|
NM_000057.4(BLM):c.1821T>G (p.Cys607Trp)
|
rs1207886252
|
0.00001
|
NM_000057.4(BLM):c.1825C>A (p.Pro609Thr)
|
rs770255643
|
0.00001
|
NM_000057.4(BLM):c.182G>C (p.Arg61Thr)
|
rs1060500644
|
0.00001
|
NM_000057.4(BLM):c.1841C>T (p.Ala614Val)
|
rs1285727934
|
0.00001
|
NM_000057.4(BLM):c.1913A>C (p.Asn638Thr)
|
rs587778110
|
0.00001
|
NM_000057.4(BLM):c.1954A>G (p.Thr652Ala)
|
rs779368359
|
0.00001
|
NM_000057.4(BLM):c.1969A>G (p.Lys657Glu)
|
rs758782238
|
0.00001
|
NM_000057.4(BLM):c.2041C>T (p.Leu681Phe)
|
rs768774375
|
0.00001
|
NM_000057.4(BLM):c.2045G>A (p.Gly682Asp)
|
rs1342307269
|
0.00001
|
NM_000057.4(BLM):c.2051A>C (p.Asp684Ala)
|
rs1262628899
|
0.00001
|
NM_000057.4(BLM):c.2075G>T (p.Gly692Val)
|
rs1200392081
|
0.00001
|
NM_000057.4(BLM):c.2087G>A (p.Ser696Asn)
|
rs773097986
|
0.00001
|
NM_000057.4(BLM):c.214T>G (p.Ser72Ala)
|
rs146521411
|
0.00001
|
NM_000057.4(BLM):c.2193T>G (p.Asp731Glu)
|
rs756354696
|
0.00001
|
NM_000057.4(BLM):c.2207A>G (p.Tyr736Cys)
|
rs781008303
|
0.00001
|
NM_000057.4(BLM):c.2213C>G (p.Thr738Arg)
|
rs1474290499
|
0.00001
|
NM_000057.4(BLM):c.2271C>G (p.Asp757Glu)
|
rs773761682
|
0.00001
|
NM_000057.4(BLM):c.227C>T (p.Pro76Leu)
|
rs774515970
|
0.00001
|
NM_000057.4(BLM):c.2308-5C>T
|
rs957805754
|
0.00001
|
NM_000057.4(BLM):c.2340G>A (p.Leu780=)
|
rs756031754
|
0.00001
|
NM_000057.4(BLM):c.2347C>T (p.Leu783Phe)
|
rs1430052148
|
0.00001
|
NM_000057.4(BLM):c.2351A>G (p.Tyr784Cys)
|
rs753635754
|
0.00001
|
NM_000057.4(BLM):c.2357G>A (p.Arg786Lys)
|
rs369065966
|
0.00001
|
NM_000057.4(BLM):c.2360A>G (p.Lys787Arg)
|
rs778695045
|
0.00001
|
NM_000057.4(BLM):c.2367G>C (p.Leu789Phe)
|
rs1060500651
|
0.00001
|
NM_000057.4(BLM):c.2372G>A (p.Arg791His)
|
rs1322472868
|
0.00001
|
NM_000057.4(BLM):c.2381T>C (p.Ile794Thr)
|
rs373819952
|
0.00001
|
NM_000057.4(BLM):c.2407T>C (p.Trp803Arg)
|
rs148394770
|
0.00001
|
NM_000057.4(BLM):c.2422C>T (p.Arg808Cys)
|
rs759330541
|
0.00001
|
NM_000057.4(BLM):c.2423G>A (p.Arg808His)
|
rs1399382807
|
0.00001
|
NM_000057.4(BLM):c.2428G>C (p.Asp810His)
|
rs765143263
|
0.00001
|
NM_000057.4(BLM):c.2446A>G (p.Met816Val)
|
rs751100504
|
0.00001
|
NM_000057.4(BLM):c.2447T>A (p.Met816Lys)
|
rs1896237707
|
0.00001
|
NM_000057.4(BLM):c.2453G>A (p.Arg818His)
|
rs780514723
|
0.00001
|
NM_000057.4(BLM):c.2474C>T (p.Pro825Leu)
|
rs749632465
|
0.00001
|
NM_000057.4(BLM):c.2489C>T (p.Thr830Met)
|
rs759545027
|
0.00001
|
NM_000057.4(BLM):c.2497G>A (p.Ala833Thr)
|
rs763918749
|
0.00001
|
NM_000057.4(BLM):c.2524C>A (p.Leu842Met)
|
rs1209722688
|
0.00001
|
NM_000057.4(BLM):c.2546G>A (p.Arg849Lys)
|
rs780523899
|
0.00001
|
NM_000057.4(BLM):c.2551C>G (p.Gln851Glu)
|
rs767638712
|
0.00001
|
NM_000057.4(BLM):c.2656C>A (p.His886Asn)
|
rs765636566
|
0.00001
|
NM_000057.4(BLM):c.2657A>C (p.His886Pro)
|
rs1420145471
|
0.00001
|
NM_000057.4(BLM):c.2662T>C (p.Tyr888His)
|
rs758696992
|
0.00001
|
NM_000057.4(BLM):c.2663-5G>C
|
rs1161787867
|
0.00001
|
NM_000057.4(BLM):c.2674A>G (p.Ile892Val)
|
rs764587569
|
0.00001
|
NM_000057.4(BLM):c.2691C>T (p.Ser897=)
|
rs756155242
|
0.00001
|
NM_000057.4(BLM):c.2717A>T (p.Asp906Val)
|
rs996189487
|
0.00001
|
NM_000057.4(BLM):c.2732A>G (p.Asp911Gly)
|
rs1596252149
|
0.00001
|
NM_000057.4(BLM):c.2740G>A (p.Ala914Thr)
|
rs372013507
|
0.00001
|
NM_000057.4(BLM):c.2744C>T (p.Ala915Val)
|
rs775026151
|
0.00001
|
NM_000057.4(BLM):c.2803A>G (p.Ile935Val)
|
rs774916971
|
0.00001
|
NM_000057.4(BLM):c.2806A>G (p.Asn936Asp)
|
rs1422513540
|
0.00001
|
NM_000057.4(BLM):c.2823+4A>G
|
rs1168674610
|
0.00001
|
NM_000057.4(BLM):c.2867C>T (p.Pro956Leu)
|
rs962069708
|
0.00001
|
NM_000057.4(BLM):c.2872G>A (p.Val958Met)
|
rs775006576
|
0.00001
|
NM_000057.4(BLM):c.2876G>A (p.Arg959Gln)
|
rs772585415
|
0.00001
|
NM_000057.4(BLM):c.2894C>G (p.Ser965Cys)
|
rs1567056595
|
0.00001
|
NM_000057.4(BLM):c.2915G>T (p.Gly972Val)
|
rs150475674
|
0.00001
|
NM_000057.4(BLM):c.2923C>G (p.Gln975Glu)
|
rs757148522
|
0.00001
|
NM_000057.4(BLM):c.2975T>C (p.Phe992Ser)
|
rs371418699
|
0.00001
|
NM_000057.4(BLM):c.2983T>C (p.Tyr995His)
|
rs142723411
|
0.00001
|
NM_000057.4(BLM):c.2987A>G (p.His996Arg)
|
rs1451226538
|
0.00001
|
NM_000057.4(BLM):c.3014T>C (p.Ile1005Thr)
|
rs772671554
|
0.00001
|
NM_000057.4(BLM):c.3021G>A (p.Met1007Ile)
|
rs1244649224
|
0.00001
|
NM_000057.4(BLM):c.302G>C (p.Arg101Thr)
|
rs781707344
|
0.00001
|
NM_000057.4(BLM):c.3076A>G (p.Met1026Val)
|
rs766225961
|
0.00001
|
NM_000057.4(BLM):c.3079G>A (p.Val1027Ile)
|
rs1300299815
|
0.00001
|
NM_000057.4(BLM):c.3098T>C (p.Ile1033Thr)
|
rs1060500647
|
0.00001
|
NM_000057.4(BLM):c.3103G>C (p.Glu1035Gln)
|
rs764965627
|
0.00001
|
NM_000057.4(BLM):c.3104A>G (p.Glu1035Gly)
|
rs1288025724
|
0.00001
|
NM_000057.4(BLM):c.311C>T (p.Ser104Leu)
|
rs367543030
|
0.00001
|
NM_000057.4(BLM):c.3131A>G (p.Tyr1044Cys)
|
rs747571272
|
0.00001
|
NM_000057.4(BLM):c.3172C>G (p.His1058Asp)
|
rs1351087442
|
0.00001
|
NM_000057.4(BLM):c.3210+4A>G
|
rs776621429
|
0.00001
|
NM_000057.4(BLM):c.3211G>T (p.Asp1071Tyr)
|
rs794727180
|
0.00001
|
NM_000057.4(BLM):c.3226G>A (p.Asp1076Asn)
|
rs1306187879
|
0.00001
|
NM_000057.4(BLM):c.3236A>G (p.Asp1079Gly)
|
rs776714693
|
0.00001
|
NM_000057.4(BLM):c.3271C>T (p.His1091Tyr)
|
rs766959096
|
0.00001
|
NM_000057.4(BLM):c.3278C>T (p.Ser1093Leu)
|
rs367543017
|
0.00001
|
NM_000057.4(BLM):c.3298A>G (p.Ile1100Val)
|
rs1897079693
|
0.00001
|
NM_000057.4(BLM):c.3317C>G (p.Ser1106Cys)
|
rs769834593
|
0.00001
|
NM_000057.4(BLM):c.3331A>G (p.Met1111Val)
|
rs1169507483
|
0.00001
|
NM_000057.4(BLM):c.3341T>C (p.Leu1114Pro)
|
rs1444338168
|
0.00001
|
NM_000057.4(BLM):c.3371C>G (p.Ala1124Gly)
|
rs751765688
|
0.00001
|
NM_000057.4(BLM):c.3416G>A (p.Arg1139Gln)
|
rs771776126
|
0.00001
|
NM_000057.4(BLM):c.343C>T (p.Pro115Ser)
|
rs1173491187
|
0.00001
|
NM_000057.4(BLM):c.3449T>C (p.Ile1150Thr)
|
rs1378138456
|
0.00001
|
NM_000057.4(BLM):c.344C>T (p.Pro115Leu)
|
rs371100621
|
0.00001
|
NM_000057.4(BLM):c.3451C>T (p.Leu1151Phe)
|
rs1469527799
|
0.00001
|
NM_000057.4(BLM):c.3478T>C (p.Tyr1160His)
|
rs752389778
|
0.00001
|
NM_000057.4(BLM):c.3485A>G (p.Asn1162Ser)
|
rs1237460907
|
0.00001
|
NM_000057.4(BLM):c.3505G>A (p.Ala1169Thr)
|
rs777492549
|
0.00001
|
NM_000057.4(BLM):c.3558+3A>G
|
rs766386042
|
0.00001
|
NM_000057.4(BLM):c.3568A>G (p.Met1190Val)
|
rs764005828
|
0.00001
|
NM_000057.4(BLM):c.3569T>C (p.Met1190Thr)
|
rs1555424373
|
0.00001
|
NM_000057.4(BLM):c.3572A>G (p.Glu1191Gly)
|
rs1897232513
|
0.00001
|
NM_000057.4(BLM):c.3608C>T (p.Ala1203Val)
|
rs757088548
|
0.00001
|
NM_000057.4(BLM):c.3636A>C (p.Glu1212Asp)
|
rs1897234564
|
0.00001
|
NM_000057.4(BLM):c.3655C>G (p.Leu1219Val)
|
rs960821931
|
0.00001
|
NM_000057.4(BLM):c.3728C>T (p.Thr1243Ile)
|
rs972145772
|
0.00001
|
NM_000057.4(BLM):c.3731T>G (p.Val1244Gly)
|
rs771117920
|
0.00001
|
NM_000057.4(BLM):c.377C>T (p.Pro126Leu)
|
rs1060500650
|
0.00001
|
NM_000057.4(BLM):c.3827C>T (p.Ala1276Val)
|
rs760554566
|
0.00001
|
NM_000057.4(BLM):c.3865A>T (p.Thr1289Ser)
|
rs1060500645
|
0.00001
|
NM_000057.4(BLM):c.3874G>A (p.Ala1292Thr)
|
rs757641454
|
0.00001
|
NM_000057.4(BLM):c.3923G>A (p.Gly1308Glu)
|
rs750865930
|
0.00001
|
NM_000057.4(BLM):c.3970C>T (p.His1324Tyr)
|
rs748943489
|
0.00001
|
NM_000057.4(BLM):c.3976T>A (p.Phe1326Ile)
|
rs1222912167
|
0.00001
|
NM_000057.4(BLM):c.4017G>C (p.Met1339Ile)
|
rs1247422719
|
0.00001
|
NM_000057.4(BLM):c.4019C>T (p.Pro1340Leu)
|
rs766959130
|
0.00001
|
NM_000057.4(BLM):c.4059T>A (p.Ser1353Arg)
|
rs1060500646
|
0.00001
|
NM_000057.4(BLM):c.4076+3A>G
|
rs758564326
|
0.00001
|
NM_000057.4(BLM):c.4076G>A (p.Gly1359Glu)
|
rs1308799871
|
0.00001
|
NM_000057.4(BLM):c.4088C>T (p.Thr1363Ile)
|
rs1060500649
|
0.00001
|
NM_000057.4(BLM):c.4093A>G (p.Arg1365Gly)
|
rs759982203
|
0.00001
|
NM_000057.4(BLM):c.4094G>A (p.Arg1365Lys)
|
rs753011288
|
0.00001
|
NM_000057.4(BLM):c.4116A>C (p.Lys1372Asn)
|
rs753664070
|
0.00001
|
NM_000057.4(BLM):c.4130T>C (p.Ile1377Thr)
|
rs1555425416
|
0.00001
|
NM_000057.4(BLM):c.4140T>G (p.Ser1380Arg)
|
rs747834576
|
0.00001
|
NM_000057.4(BLM):c.4144G>C (p.Ala1382Pro)
|
rs771686396
|
0.00001
|
NM_000057.4(BLM):c.4177A>G (p.Asn1393Asp)
|
rs548600410
|
0.00001
|
NM_000057.4(BLM):c.4198G>A (p.Ala1400Thr)
|
rs370588118
|
0.00001
|
NM_000057.4(BLM):c.4205C>T (p.Pro1402Leu)
|
rs770313956
|
0.00001
|
NM_000057.4(BLM):c.4250C>T (p.Ser1417Leu)
|
rs1897533974
|
0.00001
|
NM_000057.4(BLM):c.437A>T (p.Asp146Val)
|
rs902876126
|
0.00001
|
NM_000057.4(BLM):c.44G>A (p.Arg15His)
|
rs752755503
|
0.00001
|
NM_000057.4(BLM):c.470T>C (p.Met157Thr)
|
rs773103759
|
0.00001
|
NM_000057.4(BLM):c.472G>A (p.Asp158Asn)
|
rs1210664602
|
0.00001
|
NM_000057.4(BLM):c.499A>G (p.Lys167Glu)
|
rs775285496
|
0.00001
|
NM_000057.4(BLM):c.506T>G (p.Phe169Cys)
|
rs1013299710
|
0.00001
|
NM_000057.4(BLM):c.555A>T (p.Lys185Asn)
|
rs766947105
|
0.00001
|
NM_000057.4(BLM):c.566G>A (p.Gly189Asp)
|
rs754306004
|
0.00001
|
NM_000057.4(BLM):c.572G>T (p.Arg191Ile)
|
rs569086568
|
0.00001
|
NM_000057.4(BLM):c.577T>C (p.Phe193Leu)
|
rs779348937
|
0.00001
|
NM_000057.4(BLM):c.607A>G (p.Thr203Ala)
|
rs1060500633
|
0.00001
|
NM_000057.4(BLM):c.632C>T (p.Pro211Leu)
|
rs758478914
|
0.00001
|
NM_000057.4(BLM):c.641A>G (p.Glu214Gly)
|
rs1230930956
|
0.00001
|
NM_000057.4(BLM):c.671A>C (p.Gln224Pro)
|
rs770111029
|
0.00001
|
NM_000057.4(BLM):c.671A>G (p.Gln224Arg)
|
rs770111029
|
0.00001
|
NM_000057.4(BLM):c.696C>A (p.Ser232Arg)
|
rs201845548
|
0.00001
|
NM_000057.4(BLM):c.700G>A (p.Asp234Asn)
|
rs878853555
|
0.00001
|
NM_000057.4(BLM):c.716A>G (p.Asp239Gly)
|
rs751699247
|
0.00001
|
NM_000057.4(BLM):c.725C>G (p.Pro242Arg)
|
rs1060500642
|
0.00001
|
NM_000057.4(BLM):c.727A>G (p.Ile243Val)
|
rs201722470
|
0.00001
|
NM_000057.4(BLM):c.763A>G (p.Ser255Gly)
|
rs1567035814
|
0.00001
|
NM_000057.4(BLM):c.790G>A (p.Asp264Asn)
|
rs763195731
|
0.00001
|
NM_000057.4(BLM):c.803A>G (p.Asn268Ser)
|
rs763432949
|
0.00001
|
NM_000057.4(BLM):c.805A>G (p.Ser269Gly)
|
rs141411463
|
0.00001
|
NM_000057.4(BLM):c.888T>C (p.Tyr296=)
|
rs139277089
|
0.00001
|
NM_000057.4(BLM):c.896A>G (p.Asp299Gly)
|
rs1418306226
|
0.00001
|
NM_000057.4(BLM):c.931G>T (p.Ala311Ser)
|
rs753911420
|
0.00001
|
NM_000057.4(BLM):c.98+6T>G
|
rs886051550
|
0.00001
|
NM_000057.4(BLM):c.992A>C (p.Lys331Thr)
|
rs1351404875
|
0.00001
|
NC_000015.10:g.90815105del
|
|
|
NM_000057.2:c.959+2_959+3insALU
|
|
|
NM_000057.4(BLM):c.-4G>A
|
|
|
NM_000057.4(BLM):c.-5G>A
|
|
|
NM_000057.4(BLM):c.1000G>T (p.Val334Phe)
|
|
|
NM_000057.4(BLM):c.1003C>G (p.Leu335Val)
|
rs1265514490
|
|
NM_000057.4(BLM):c.1007G>A (p.Ser336Asn)
|
rs2151152181
|
|
NM_000057.4(BLM):c.101G>A (p.Gly34Asp)
|
|
|
NM_000057.4(BLM):c.1025T>C (p.Leu342Ser)
|
rs1596223853
|
|
NM_000057.4(BLM):c.1025T>G (p.Leu342Trp)
|
|
|
NM_000057.4(BLM):c.1027T>C (p.Ser343Pro)
|
|
|
NM_000057.4(BLM):c.1036G>A (p.Glu346Lys)
|
|
|
NM_000057.4(BLM):c.1040A>C (p.Lys347Thr)
|
|
|
NM_000057.4(BLM):c.1044G>T (p.Met348Ile)
|
rs184657475
|
|
NM_000057.4(BLM):c.1050G>A (p.Met350Ile)
|
|
|
NM_000057.4(BLM):c.1052A>G (p.Gln351Arg)
|
|
|
NM_000057.4(BLM):c.1054G>A (p.Glu352Lys)
|
rs369583279
|
|
NM_000057.4(BLM):c.1055A>G (p.Glu352Gly)
|
|
|
NM_000057.4(BLM):c.1063C>G (p.Pro355Ala)
|
rs1895778825
|
|
NM_000057.4(BLM):c.1064C>G (p.Pro355Arg)
|
rs1022898915
|
|
NM_000057.4(BLM):c.1067A>T (p.Glu356Val)
|
|
|
NM_000057.4(BLM):c.1072A>C (p.Ser358Arg)
|
rs1336484885
|
|
NM_000057.4(BLM):c.1075A>C (p.Thr359Pro)
|
rs1332024999
|
|
NM_000057.4(BLM):c.1076C>T (p.Thr359Ile)
|
|
|
NM_000057.4(BLM):c.1078G>A (p.Asp360Asn)
|
|
|
NM_000057.4(BLM):c.1086C>G (p.Asp362Glu)
|
|
|
NM_000057.4(BLM):c.1087G>C (p.Ala363Pro)
|
|
|
NM_000057.4(BLM):c.1088-5T>C
|
|
|
NM_000057.4(BLM):c.1088C>T (p.Ala363Val)
|
rs1567040460
|
|
NM_000057.4(BLM):c.1098A>G (p.Ile366Met)
|
|
|
NM_000057.4(BLM):c.1100G>T (p.Ser367Ile)
|
|
|
NM_000057.4(BLM):c.1103T>C (p.Leu368Ser)
|
|
|
NM_000057.4(BLM):c.1113G>C (p.Gln371His)
|
|
|
NM_000057.4(BLM):c.1115T>C (p.Leu372Pro)
|
|
|
NM_000057.4(BLM):c.1118T>A (p.Ile373Asn)
|
rs1060500630
|
|
NM_000057.4(BLM):c.1122T>G (p.His374Gln)
|
|
|
NM_000057.4(BLM):c.1123G>C (p.Val375Leu)
|
rs1596228852
|
|
NM_000057.4(BLM):c.1126A>C (p.Met376Leu)
|
rs1895932695
|
|
NM_000057.4(BLM):c.1128G>A (p.Met376Ile)
|
|
|
NM_000057.4(BLM):c.1132C>T (p.His378Tyr)
|
|
|
NM_000057.4(BLM):c.1132_1134delinsTAT (p.His378Tyr)
|
rs1555419713
|
|
NM_000057.4(BLM):c.1133A>G (p.His378Arg)
|
|
|
NM_000057.4(BLM):c.1137C>G (p.Ile379Met)
|
rs1178783782
|
|
NM_000057.4(BLM):c.1139G>A (p.Cys380Tyr)
|
|
|
NM_000057.4(BLM):c.113A>C (p.Lys38Thr)
|
rs2151146691
|
|
NM_000057.4(BLM):c.1150G>T (p.Asp384Tyr)
|
|
|
NM_000057.4(BLM):c.1153A>G (p.Thr385Ala)
|
rs1895934308
|
|
NM_000057.4(BLM):c.1154C>G (p.Thr385Ser)
|
|
|
NM_000057.4(BLM):c.1157T>C (p.Ile386Thr)
|
|
|
NM_000057.4(BLM):c.1164T>A (p.Asp388Glu)
|
|
|
NM_000057.4(BLM):c.1164T>G (p.Asp388Glu)
|
|
|
NM_000057.4(BLM):c.1165G>C (p.Asp389His)
|
rs746170218
|
|
NM_000057.4(BLM):c.1169A>C (p.Lys390Thr)
|
rs1596228946
|
|
NM_000057.4(BLM):c.116A>T (p.Lys39Met)
|
|
|
NM_000057.4(BLM):c.1173G>A (p.Leu391=)
|
|
|
NM_000057.4(BLM):c.1177C>T (p.Leu393Phe)
|
rs1895935448
|
|
NM_000057.4(BLM):c.1178T>C (p.Leu393Pro)
|
|
|
NM_000057.4(BLM):c.1182G>T (p.Leu394Phe)
|
|
|
NM_000057.4(BLM):c.1184A>T (p.Asp395Val)
|
|
|
NM_000057.4(BLM):c.1190G>A (p.Gly397Glu)
|
rs1596228978
|
|
NM_000057.4(BLM):c.1193A>C (p.Asn398Thr)
|
|
|
NM_000057.4(BLM):c.1198C>G (p.Leu400Val)
|
|
|
NM_000057.4(BLM):c.11T>A (p.Val4Asp)
|
rs144706057
|
|
NM_000057.4(BLM):c.1201C>T (p.Leu401Phe)
|
rs151150267
|
|
NM_000057.4(BLM):c.1204C>G (p.Gln402Glu)
|
|
|
NM_000057.4(BLM):c.1205A>T (p.Gln402Leu)
|
|
|
NM_000057.4(BLM):c.1214A>T (p.Asn405Ile)
|
|
|
NM_000057.4(BLM):c.1216A>G (p.Ile406Val)
|
rs769498398
|
|
NM_000057.4(BLM):c.1217T>C (p.Ile406Thr)
|
rs2151157512
|
|
NM_000057.4(BLM):c.1220+3A>G
|
rs1429490877
|
|
NM_000057.4(BLM):c.1220G>A (p.Arg407Lys)
|
rs1350192744
|
|
NM_000057.4(BLM):c.1220G>C (p.Arg407Thr)
|
rs1350192744
|
|
NM_000057.4(BLM):c.1221A>C (p.Arg407Ser)
|
rs900060314
|
|
NM_000057.4(BLM):c.1222A>G (p.Arg408Gly)
|
|
|
NM_000057.4(BLM):c.1228C>G (p.Leu410Val)
|
rs200688933
|
|
NM_000057.4(BLM):c.1228C>T (p.Leu410Phe)
|
rs200688933
|
|
NM_000057.4(BLM):c.1230_1231delinsAA (p.Leu411Ile)
|
|
|
NM_000057.4(BLM):c.1231C>A (p.Leu411Ile)
|
|
|
NM_000057.4(BLM):c.1250A>G (p.Asn417Ser)
|
rs2151157798
|
|
NM_000057.4(BLM):c.1255A>T (p.Ser419Cys)
|
|
|
NM_000057.4(BLM):c.1258G>C (p.Asp420His)
|
rs1895947012
|
|
NM_000057.4(BLM):c.1259A>G (p.Asp420Gly)
|
rs773952896
|
|
NM_000057.4(BLM):c.1261G>T (p.Ala421Ser)
|
rs587779879
|
|
NM_000057.4(BLM):c.1267CTT[1] (p.Leu424del)
|
rs777886082
|
|
NM_000057.4(BLM):c.1273G>A (p.Gly425Ser)
|
|
|
NM_000057.4(BLM):c.1280T>G (p.Leu427Trp)
|
|
|
NM_000057.4(BLM):c.1281G>C (p.Leu427Phe)
|
|
|
NM_000057.4(BLM):c.1289A>T (p.Tyr430Phe)
|
|
|
NM_000057.4(BLM):c.128C>T (p.Ser43Leu)
|
|
|
NM_000057.4(BLM):c.1291A>G (p.Arg431Gly)
|
|
|
NM_000057.4(BLM):c.1292G>A (p.Arg431Lys)
|
|
|
NM_000057.4(BLM):c.1294C>T (p.Pro432Ser)
|
|
|
NM_000057.4(BLM):c.1295C>T (p.Pro432Leu)
|
|
|
NM_000057.4(BLM):c.1297G>C (p.Asp433His)
|
rs1596229549
|
|
NM_000057.4(BLM):c.129_130insTAT (p.Ser43_Asp44insTyr)
|
rs778786003
|
|
NM_000057.4(BLM):c.1303C>G (p.Leu435Val)
|
|
|
NM_000057.4(BLM):c.1304T>C (p.Leu435Pro)
|
|
|
NM_000057.4(BLM):c.1306G>A (p.Asp436Asn)
|
|
|
NM_000057.4(BLM):c.130G>A (p.Asp44Asn)
|
|
|
NM_000057.4(BLM):c.1315A>T (p.Met439Leu)
|
|
|
NM_000057.4(BLM):c.1317G>T (p.Met439Ile)
|
rs1450277471
|
|
NM_000057.4(BLM):c.131A>T (p.Asp44Val)
|
|
|
NM_000057.4(BLM):c.1328C>A (p.Ser443Tyr)
|
|
|
NM_000057.4(BLM):c.1328C>G (p.Ser443Cys)
|
|
|
NM_000057.4(BLM):c.1328C>T (p.Ser443Phe)
|
|
|
NM_000057.4(BLM):c.1330T>C (p.Cys444Arg)
|
|
|
NM_000057.4(BLM):c.1331G>A (p.Cys444Tyr)
|
|
|
NM_000057.4(BLM):c.1334C>G (p.Pro445Arg)
|
|
|
NM_000057.4(BLM):c.1337C>T (p.Thr446Ile)
|
|
|
NM_000057.4(BLM):c.1339G>A (p.Gly447Arg)
|
|
|
NM_000057.4(BLM):c.1342A>G (p.Asn448Asp)
|
|
|
NM_000057.4(BLM):c.1345T>G (p.Ser449Ala)
|
|
|
NM_000057.4(BLM):c.1346C>A (p.Ser449Tyr)
|
rs967698170
|
|
NM_000057.4(BLM):c.1346C>G (p.Ser449Cys)
|
rs967698170
|
|
NM_000057.4(BLM):c.134A>G (p.Asn45Ser)
|
rs1555418242
|
|
NM_000057.4(BLM):c.1352A>C (p.Lys451Thr)
|
|
|
NM_000057.4(BLM):c.1352A>G (p.Lys451Arg)
|
|
|
NM_000057.4(BLM):c.1360A>C (p.Asn454His)
|
|
|
NM_000057.4(BLM):c.1364T>G (p.Phe455Cys)
|
|
|
NM_000057.4(BLM):c.1369C>G (p.His457Asp)
|
|
|
NM_000057.4(BLM):c.1369C>T (p.His457Tyr)
|
rs1895954255
|
|
NM_000057.4(BLM):c.1371C>G (p.His457Gln)
|
|
|
NM_000057.4(BLM):c.1372C>T (p.Leu458Phe)
|
|
|
NM_000057.4(BLM):c.1375C>G (p.Pro459Ala)
|
|
|
NM_000057.4(BLM):c.1376C>A (p.Pro459His)
|
rs1302320494
|
|
NM_000057.4(BLM):c.1376C>T (p.Pro459Leu)
|
|
|
NM_000057.4(BLM):c.138T>G (p.Asn46Lys)
|
rs1895600929
|
|
NM_000057.4(BLM):c.1391C>T (p.Ser464Phe)
|
rs1303724070
|
|
NM_000057.4(BLM):c.1394C>A (p.Pro465His)
|
rs561545349
|
|
NM_000057.4(BLM):c.1394C>T (p.Pro465Leu)
|
|
|
NM_000057.4(BLM):c.1397G>A (p.Gly466Glu)
|
rs1567041006
|
|
NM_000057.4(BLM):c.1414A>G (p.Thr472Ala)
|
|
|
NM_000057.4(BLM):c.1427A>G (p.Lys476Arg)
|
rs2151158198
|
|
NM_000057.4(BLM):c.142T>A (p.Ser48Thr)
|
rs1895601138
|
|
NM_000057.4(BLM):c.1430C>T (p.Thr477Ile)
|
rs1567041041
|
|
NM_000057.4(BLM):c.1433G>A (p.Gly478Glu)
|
|
|
NM_000057.4(BLM):c.1436T>A (p.Phe479Tyr)
|
rs1418071613
|
|
NM_000057.4(BLM):c.1438T>C (p.Ser480Pro)
|
rs1555419877
|
|
NM_000057.4(BLM):c.1448G>A (p.Arg483Lys)
|
|
|
NM_000057.4(BLM):c.1456C>G (p.Leu486Val)
|
|
|
NM_000057.4(BLM):c.1462G>A (p.Glu488Lys)
|
rs1477193473
|
|
NM_000057.4(BLM):c.1469C>T (p.Pro490Leu)
|
|
|
NM_000057.4(BLM):c.146T>C (p.Val49Ala)
|
rs1895601341
|
|
NM_000057.4(BLM):c.1481C>A (p.Thr494Asn)
|
|
|
NM_000057.4(BLM):c.1493A>G (p.Lys498Arg)
|
|
|
NM_000057.4(BLM):c.1501G>A (p.Val501Ile)
|
rs1596230032
|
|
NM_000057.4(BLM):c.1502T>C (p.Val501Ala)
|
|
|
NM_000057.4(BLM):c.1505G>C (p.Ser502Thr)
|
rs908599703
|
|
NM_000057.4(BLM):c.1507A>G (p.Ser503Gly)
|
|
|
NM_000057.4(BLM):c.1508G>A (p.Ser503Asn)
|
rs1352036324
|
|
NM_000057.4(BLM):c.1510A>C (p.Asn504His)
|
|
|
NM_000057.4(BLM):c.1511A>G (p.Asn504Ser)
|
|
|
NM_000057.4(BLM):c.1513T>G (p.Trp505Gly)
|
|
|
NM_000057.4(BLM):c.1517C>T (p.Ala506Val)
|
|
|
NM_000057.4(BLM):c.1525C>A (p.Pro509Thr)
|
|
|
NM_000057.4(BLM):c.1531C>G (p.Leu511Val)
|
|
|
NM_000057.4(BLM):c.1532T>G (p.Leu511Arg)
|
rs1446287900
|
|
NM_000057.4(BLM):c.1537A>G (p.Lys513Glu)
|
|
|
NM_000057.4(BLM):c.1545T>G (p.Asn515Lys)
|
|
|
NM_000057.4(BLM):c.1547A>C (p.Glu516Ala)
|
|
|
NM_000057.4(BLM):c.1549A>C (p.Ser517Arg)
|
|
|
NM_000057.4(BLM):c.1552T>C (p.Ser518Pro)
|
rs1596230139
|
|
NM_000057.4(BLM):c.1553C>G (p.Ser518Cys)
|
|
|
NM_000057.4(BLM):c.1556A>G (p.Tyr519Cys)
|
rs1567041220
|
|
NM_000057.4(BLM):c.1559T>C (p.Phe520Ser)
|
rs1410283592
|
|
NM_000057.4(BLM):c.1561C>T (p.Pro521Ser)
|
rs1451973495
|
|
NM_000057.4(BLM):c.1562C>T (p.Pro521Leu)
|
|
|
NM_000057.4(BLM):c.1564G>A (p.Gly522Arg)
|
rs1895965135
|
|
NM_000057.4(BLM):c.1568A>G (p.Asn523Ser)
|
|
|
NM_000057.4(BLM):c.1579A>C (p.Ser527Arg)
|
|
|
NM_000057.4(BLM):c.157T>C (p.Ser53Pro)
|
|
|
NM_000057.4(BLM):c.157T>G (p.Ser53Ala)
|
|
|
NM_000057.4(BLM):c.1581C>A (p.Ser527Arg)
|
|
|
NM_000057.4(BLM):c.1582A>G (p.Thr528Ala)
|
|
|
NM_000057.4(BLM):c.1582_1583insTTG (p.Thr528delinsIleAla)
|
|
|
NM_000057.4(BLM):c.1583C>T (p.Thr528Ile)
|
rs1596230185
|
|
NM_000057.4(BLM):c.1589T>C (p.Val530Ala)
|
rs2151158554
|
|
NM_000057.4(BLM):c.158C>T (p.Ser53Leu)
|
|
|
NM_000057.4(BLM):c.1592A>C (p.Lys531Thr)
|
rs1895966276
|
|
NM_000057.4(BLM):c.1593A>T (p.Lys531Asn)
|
rs1239709333
|
|
NM_000057.4(BLM):c.1594G>T (p.Asp532Tyr)
|
|
|
NM_000057.4(BLM):c.1598A>G (p.Gln533Arg)
|
|
|
NM_000057.4(BLM):c.1606C>A (p.His536Asn)
|
|
|
NM_000057.4(BLM):c.160G>A (p.Val54Ile)
|
|
|
NM_000057.4(BLM):c.1610C>T (p.Thr537Ile)
|
|
|
NM_000057.4(BLM):c.1613C>A (p.Ala538Asp)
|
|
|
NM_000057.4(BLM):c.1619T>A (p.Ile540Lys)
|
rs1596230232
|
|
NM_000057.4(BLM):c.1620A>G (p.Ile540Met)
|
rs1596230234
|
|
NM_000057.4(BLM):c.1622A>G (p.Asn541Ser)
|
rs1240946873
|
|
NM_000057.4(BLM):c.1631A>G (p.Glu544Gly)
|
rs1567041307
|
|
NM_000057.4(BLM):c.1633A>G (p.Arg545Gly)
|
rs1596230280
|
|
NM_000057.4(BLM):c.1634_1639del (p.Arg545_Glu546del)
|
rs1555419934
|
|
NM_000057.4(BLM):c.1639A>G (p.Thr547Ala)
|
|
|
NM_000057.4(BLM):c.1645C>A (p.Pro549Thr)
|
|
|
NM_000057.4(BLM):c.1648T>C (p.Ser550Pro)
|
|
|
NM_000057.4(BLM):c.164C>A (p.Ala55Glu)
|
|
|
NM_000057.4(BLM):c.1657A>G (p.Ile553Val)
|
rs778873363
|
|
NM_000057.4(BLM):c.1660G>A (p.Asp554Asn)
|
rs2151158694
|
|
NM_000057.4(BLM):c.1672A>G (p.Ile558Val)
|
|
|
NM_000057.4(BLM):c.1673T>C (p.Ile558Thr)
|
rs1469407831
|
|
NM_000057.4(BLM):c.1676A>T (p.Asp559Val)
|
rs1596230337
|
|
NM_000057.4(BLM):c.1678G>A (p.Asp560Asn)
|
rs746386524
|
|
NM_000057.4(BLM):c.1678G>C (p.Asp560His)
|
rs746386524
|
|
NM_000057.4(BLM):c.1681T>A (p.Phe561Ile)
|
|
|
NM_000057.4(BLM):c.1681T>G (p.Phe561Val)
|
|
|
NM_000057.4(BLM):c.1681_1682delinsGA (p.Phe561Asp)
|
rs1895970884
|
|
NM_000057.4(BLM):c.1682T>A (p.Phe561Tyr)
|
|
|
NM_000057.4(BLM):c.1683TGA[6] (p.Asp566dup)
|
rs768095141
|
|
NM_000057.4(BLM):c.1686T>A (p.Asp562Glu)
|
rs1895971165
|
|
NM_000057.4(BLM):c.1688A>T (p.Asp563Val)
|
rs1288457938
|
|
NM_000057.4(BLM):c.1690G>A (p.Asp564Asn)
|
|
|
NM_000057.4(BLM):c.1691A>G (p.Asp564Gly)
|
rs1555419944
|
|
NM_000057.4(BLM):c.1699T>C (p.Trp567Arg)
|
|
|
NM_000057.4(BLM):c.169A>G (p.Thr57Ala)
|
|
|
NM_000057.4(BLM):c.169A>T (p.Thr57Ser)
|
|
|
NM_000057.4(BLM):c.1705G>T (p.Asp569Tyr)
|
|
|
NM_000057.4(BLM):c.1706A>G (p.Asp569Gly)
|
rs1895971955
|
|
NM_000057.4(BLM):c.1708A>G (p.Ile570Val)
|
rs775758928
|
|
NM_000057.4(BLM):c.1709T>C (p.Ile570Thr)
|
rs1567041376
|
|
NM_000057.4(BLM):c.1711A>G (p.Met571Val)
|
|
|
NM_000057.4(BLM):c.1715A>G (p.His572Arg)
|
rs763355238
|
|
NM_000057.4(BLM):c.1718A>T (p.Asn573Ile)
|
|
|
NM_000057.4(BLM):c.1719T>A (p.Asn573Lys)
|
rs1895973169
|
|
NM_000057.4(BLM):c.1723G>A (p.Ala575Thr)
|
|
|
NM_000057.4(BLM):c.1726G>A (p.Ala576Thr)
|
|
|
NM_000057.4(BLM):c.1726G>C (p.Ala576Pro)
|
|
|
NM_000057.4(BLM):c.1727C>T (p.Ala576Val)
|
|
|
NM_000057.4(BLM):c.1729A>C (p.Ser577Arg)
|
rs761955701
|
|
NM_000057.4(BLM):c.1729A>G (p.Ser577Gly)
|
|
|
NM_000057.4(BLM):c.172C>A (p.Pro58Thr)
|
rs1596217837
|
|
NM_000057.4(BLM):c.1735T>A (p.Ser579Thr)
|
|
|
NM_000057.4(BLM):c.1742C>T (p.Thr581Ile)
|
|
|
NM_000057.4(BLM):c.1747G>T (p.Ala583Ser)
|
rs1043484811
|
|
NM_000057.4(BLM):c.1756C>A (p.Pro586Thr)
|
|
|
NM_000057.4(BLM):c.1763A>C (p.Lys588Thr)
|
|
|
NM_000057.4(BLM):c.1765G>A (p.Glu589Lys)
|
|
|
NM_000057.4(BLM):c.1767A>T (p.Glu589Asp)
|
|
|
NM_000057.4(BLM):c.1771C>G (p.Arg591Gly)
|
|
|
NM_000057.4(BLM):c.1775C>T (p.Pro592Leu)
|
rs2151158954
|
|
NM_000057.4(BLM):c.1777A>C (p.Ile593Leu)
|
|
|
NM_000057.4(BLM):c.1783T>C (p.Ser595Pro)
|
|
|
NM_000057.4(BLM):c.1786G>A (p.Val596Ile)
|
rs1596230556
|
|
NM_000057.4(BLM):c.1799T>C (p.Leu600Pro)
|
|
|
NM_000057.4(BLM):c.1802C>A (p.Ser601Tyr)
|
rs751951251
|
|
NM_000057.4(BLM):c.1802C>G (p.Ser601Cys)
|
rs751951251
|
|
NM_000057.4(BLM):c.1808C>G (p.Ala603Gly)
|
rs1567041486
|
|
NM_000057.4(BLM):c.1817A>T (p.Asp606Val)
|
|
|
NM_000057.4(BLM):c.1819T>C (p.Cys607Arg)
|
|
|
NM_000057.4(BLM):c.1820G>T (p.Cys607Phe)
|
|
|
NM_000057.4(BLM):c.1828G>A (p.Val610Met)
|
|
|
NM_000057.4(BLM):c.182G>T (p.Arg61Ile)
|
rs1060500644
|
|
NM_000057.4(BLM):c.1835C>A (p.Ser612Tyr)
|
|
|
NM_000057.4(BLM):c.1840G>A (p.Ala614Thr)
|
rs1895978868
|
|
NM_000057.4(BLM):c.1849A>G (p.Ile617Val)
|
|
|
NM_000057.4(BLM):c.1852A>C (p.Asn618His)
|
|
|
NM_000057.4(BLM):c.1856_1858del (p.Phe619del)
|
rs1555419996
|
|
NM_000057.4(BLM):c.1857C>G (p.Phe619Leu)
|
|
|
NM_000057.4(BLM):c.1862A>T (p.Glu621Val)
|
|
|
NM_000057.4(BLM):c.1864T>G (p.Ser622Ala)
|
|
|
NM_000057.4(BLM):c.1865C>T (p.Ser622Leu)
|
|
|
NM_000057.4(BLM):c.1867A>G (p.Ile623Val)
|
|
|
NM_000057.4(BLM):c.1868T>C (p.Ile623Thr)
|
rs1567041556
|
|
NM_000057.4(BLM):c.1871A>G (p.Gln624Arg)
|
rs2151159195
|
|
NM_000057.4(BLM):c.1879A>G (p.Thr627Ala)
|
rs1895981084
|
|
NM_000057.4(BLM):c.1883-4C>T
|
|
|
NM_000057.4(BLM):c.1888T>A (p.Ser630Thr)
|
rs1567042153
|
|
NM_000057.4(BLM):c.1895A>C (p.Gln632Pro)
|
rs1896025240
|
|
NM_000057.4(BLM):c.1903G>A (p.Ala635Thr)
|
|
|
NM_000057.4(BLM):c.1907C>G (p.Ser636Cys)
|
rs1596232081
|
|
NM_000057.4(BLM):c.1909A>G (p.Arg637Gly)
|
|
|
NM_000057.4(BLM):c.190G>C (p.Asp64His)
|
rs1895602796
|
|
NM_000057.4(BLM):c.190G>T (p.Asp64Tyr)
|
|
|
NM_000057.4(BLM):c.1918A>G (p.Lys640Glu)
|
|
|
NM_000057.4(BLM):c.191A>C (p.Asp64Ala)
|
rs140382474
|
|
NM_000057.4(BLM):c.1922A>G (p.His641Arg)
|
|
|
NM_000057.4(BLM):c.1923_1925del (p.His641_Glu642delinsGln)
|
|
|
NM_000057.4(BLM):c.1927C>A (p.Arg643Ser)
|
rs373090621
|
|
NM_000057.4(BLM):c.1934A>G (p.Gln645Arg)
|
rs377563699
|
|
NM_000057.4(BLM):c.1934A>T (p.Gln645Leu)
|
rs377563699
|
|
NM_000057.4(BLM):c.1935A>C (p.Gln645His)
|
|
|
NM_000057.4(BLM):c.1936A>C (p.Ser646Arg)
|
|
|
NM_000057.4(BLM):c.193G>C (p.Val65Leu)
|
|
|
NM_000057.4(BLM):c.1942A>T (p.Ser648Cys)
|
|
|
NM_000057.4(BLM):c.1943G>C (p.Ser648Thr)
|
|
|
NM_000057.4(BLM):c.194T>A (p.Val65Asp)
|
|
|
NM_000057.4(BLM):c.1965G>C (p.Met655Ile)
|
rs369777747
|
|
NM_000057.4(BLM):c.1965G>T (p.Met655Ile)
|
|
|
NM_000057.4(BLM):c.1973T>C (p.Ile658Thr)
|
rs187379039
|
|
NM_000057.4(BLM):c.1992C>T (p.Gly664=)
|
rs886043359
|
|
NM_000057.4(BLM):c.199G>A (p.Val67Ile)
|
rs991350762
|
|
NM_000057.4(BLM):c.2001T>G (p.Asn667Lys)
|
|
|
NM_000057.4(BLM):c.200T>A (p.Val67Asp)
|
rs1555418261
|
|
NM_000057.4(BLM):c.2024C>G (p.Ala675Gly)
|
|
|
NM_000057.4(BLM):c.2035G>A (p.Ala679Thr)
|
rs1896031109
|
|
NM_000057.4(BLM):c.2039T>C (p.Leu680Pro)
|
|
|
NM_000057.4(BLM):c.2047G>A (p.Glu683Lys)
|
|
|
NM_000057.4(BLM):c.2050G>A (p.Asp684Asn)
|
rs2151160786
|
|
NM_000057.4(BLM):c.2050G>T (p.Asp684Tyr)
|
|
|
NM_000057.4(BLM):c.2054G>A (p.Cys685Tyr)
|
rs1896032110
|
|
NM_000057.4(BLM):c.205G>A (p.Glu69Lys)
|
rs746195311
|
|
NM_000057.4(BLM):c.2069C>T (p.Pro690Leu)
|
rs761589072
|
|
NM_000057.4(BLM):c.2071A>T (p.Thr691Ser)
|
rs2151160830
|
|
NM_000057.4(BLM):c.2074+5G>A
|
rs587779880
|
|
NM_000057.4(BLM):c.2084A>G (p.Lys695Arg)
|
rs2151162329
|
|
NM_000057.4(BLM):c.2086A>G (p.Ser696Gly)
|
rs1896091802
|
|
NM_000057.4(BLM):c.208G>A (p.Asp70Asn)
|
rs769957028
|
|
NM_000057.4(BLM):c.2092T>C (p.Cys698Arg)
|
|
|
NM_000057.4(BLM):c.2096A>G (p.Tyr699Cys)
|
|
|
NM_000057.4(BLM):c.20A>G (p.Asn7Ser)
|
|
|
NM_000057.4(BLM):c.2105C>T (p.Pro702Leu)
|
|
|
NM_000057.4(BLM):c.2113G>A (p.Val705Ile)
|
|
|
NM_000057.4(BLM):c.2114T>A (p.Val705Asp)
|
rs1596234166
|
|
NM_000057.4(BLM):c.2117C>T (p.Ser706Phe)
|
rs1596234178
|
|
NM_000057.4(BLM):c.211T>A (p.Phe71Ile)
|
|
|
NM_000057.4(BLM):c.2123G>A (p.Gly708Glu)
|
rs763559820
|
|
NM_000057.4(BLM):c.212T>G (p.Phe71Cys)
|
|
|
NM_000057.4(BLM):c.2155C>T (p.Leu719Phe)
|
rs587779881
|
|
NM_000057.4(BLM):c.2158A>G (p.Ile720Val)
|
|
|
NM_000057.4(BLM):c.2159T>C (p.Ile720Thr)
|
|
|
NM_000057.4(BLM):c.2162T>A (p.Val721Glu)
|
|
|
NM_000057.4(BLM):c.2167C>G (p.Gln723Glu)
|
rs2151162501
|
|
NM_000057.4(BLM):c.2178G>T (p.Lys726Asn)
|
|
|
NM_000057.4(BLM):c.2183C>G (p.Thr728Ser)
|
rs1567043208
|
|
NM_000057.4(BLM):c.2189T>C (p.Leu730Ser)
|
|
|
NM_000057.4(BLM):c.2196T>G (p.Ile732Met)
|
|
|
NM_000057.4(BLM):c.2197C>T (p.Pro733Ser)
|
|
|
NM_000057.4(BLM):c.2200G>A (p.Ala734Thr)
|
rs1301298294
|
|
NM_000057.4(BLM):c.2200G>T (p.Ala734Ser)
|
rs1301298294
|
|
NM_000057.4(BLM):c.2204C>T (p.Thr735Ile)
|
rs1596235743
|
|
NM_000057.4(BLM):c.2205A>T (p.Thr735=)
|
rs757134420
|
|
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs)
|
rs113993962
|
|
NM_000057.4(BLM):c.2209C>A (p.Leu737Met)
|
|
|
NM_000057.4(BLM):c.220A>G (p.Ser74Gly)
|
rs1895604535
|
|
NM_000057.4(BLM):c.2212A>G (p.Thr738Ala)
|
rs1050741211
|
|
NM_000057.4(BLM):c.2213C>T (p.Thr738Ile)
|
|
|
NM_000057.4(BLM):c.2215G>A (p.Gly739Ser)
|
rs745642690
|
|
NM_000057.4(BLM):c.2219A>G (p.Asp740Gly)
|
|
|
NM_000057.4(BLM):c.2221A>C (p.Lys741Gln)
|
|
|
NM_000057.4(BLM):c.2223G>T (p.Lys741Asn)
|
|
|
NM_000057.4(BLM):c.2233G>A (p.Glu745Lys)
|
rs1596235872
|
|
NM_000057.4(BLM):c.2236G>A (p.Ala746Thr)
|
rs1896147300
|
|
NM_000057.4(BLM):c.223G>C (p.Glu75Gln)
|
rs1205667946
|
|
NM_000057.4(BLM):c.2240C>A (p.Thr747Lys)
|
|
|
NM_000057.4(BLM):c.2240C>T (p.Thr747Ile)
|
|
|
NM_000057.4(BLM):c.2245A>G (p.Ile749Val)
|
|
|
NM_000057.4(BLM):c.2246T>C (p.Ile749Thr)
|
|
|
NM_000057.4(BLM):c.2254C>A (p.Gln752Lys)
|
rs1424485988
|
|
NM_000057.4(BLM):c.226C>T (p.Pro76Ser)
|
rs768843912
|
|
NM_000057.4(BLM):c.2273C>T (p.Pro758Leu)
|
rs2151163980
|
|
NM_000057.4(BLM):c.2275A>G (p.Ile759Val)
|
|
|
NM_000057.4(BLM):c.2276T>A (p.Ile759Asn)
|
rs1056077835
|
|
NM_000057.4(BLM):c.2276T>C (p.Ile759Thr)
|
rs1056077835
|
|
NM_000057.4(BLM):c.2281A>G (p.Lys761Glu)
|
rs1555420599
|
|
NM_000057.4(BLM):c.2284C>A (p.Leu762Ile)
|
|
|
NM_000057.4(BLM):c.2284C>T (p.Leu762Phe)
|
|
|
NM_000057.4(BLM):c.2288T>C (p.Leu763Pro)
|
|
|
NM_000057.4(BLM):c.2290T>C (p.Tyr764His)
|
|
|
NM_000057.4(BLM):c.2294T>C (p.Val765Ala)
|
|
|
NM_000057.4(BLM):c.2297C>G (p.Thr766Ser)
|
|
|
NM_000057.4(BLM):c.2302G>A (p.Glu768Lys)
|
rs1060500640
|
|
NM_000057.4(BLM):c.2305A>C (p.Lys769Gln)
|
|
|
NM_000057.4(BLM):c.2307+5G>A
|
rs1596236061
|
|
NM_000057.4(BLM):c.2307+5G>C
|
rs1596236061
|
|
NM_000057.4(BLM):c.2308-4C>G
|
rs1596238148
|
|
NM_000057.4(BLM):c.2309T>C (p.Ile770Thr)
|
|
|
NM_000057.4(BLM):c.2312G>A (p.Cys771Tyr)
|
rs1555420831
|
|
NM_000057.4(BLM):c.2314G>A (p.Ala772Thr)
|
|
|
NM_000057.4(BLM):c.2318G>A (p.Ser773Asn)
|
rs1896222659
|
|
NM_000057.4(BLM):c.2320A>G (p.Asn774Asp)
|
|
|
NM_000057.4(BLM):c.2329A>G (p.Ile777Val)
|
rs764097842
|
|
NM_000057.4(BLM):c.2330T>C (p.Ile777Thr)
|
rs2151165699
|
|
NM_000057.4(BLM):c.2331T>G (p.Ile777Met)
|
|
|
NM_000057.4(BLM):c.2339T>C (p.Leu780Pro)
|
|
|
NM_000057.4(BLM):c.233C>A (p.Pro78His)
|
|
|
NM_000057.4(BLM):c.2341G>A (p.Glu781Lys)
|
rs2151165708
|
|
NM_000057.4(BLM):c.2343G>C (p.Glu781Asp)
|
|
|
NM_000057.4(BLM):c.2347C>G (p.Leu783Val)
|
|
|
NM_000057.4(BLM):c.2350T>C (p.Tyr784His)
|
|
|
NM_000057.4(BLM):c.2359A>G (p.Lys787Glu)
|
rs2151165751
|
|
NM_000057.4(BLM):c.2362C>T (p.Leu788Phe)
|
rs149754073
|
|
NM_000057.4(BLM):c.2366T>G (p.Leu789Trp)
|
|
|
NM_000057.4(BLM):c.2368G>A (p.Ala790Thr)
|
|
|
NM_000057.4(BLM):c.2369C>A (p.Ala790Glu)
|
|
|
NM_000057.4(BLM):c.2369C>T (p.Ala790Val)
|
rs2151165767
|
|
NM_000057.4(BLM):c.2372G>C (p.Arg791Pro)
|
|
|
NM_000057.4(BLM):c.2374T>C (p.Phe792Leu)
|
|
|
NM_000057.4(BLM):c.2374T>G (p.Phe792Val)
|
rs982156188
|
|
NM_000057.4(BLM):c.2376T>A (p.Phe792Leu)
|
|
|
NM_000057.4(BLM):c.2377G>A (p.Val793Ile)
|
rs1198070682
|
|
NM_000057.4(BLM):c.2380A>T (p.Ile794Phe)
|
|
|
NM_000057.4(BLM):c.2389G>A (p.Ala797Thr)
|
|
|
NM_000057.4(BLM):c.2389G>C (p.Ala797Pro)
|
|
|
NM_000057.4(BLM):c.238A>G (p.Thr80Ala)
|
rs1555418290
|
|
NM_000057.4(BLM):c.2392C>G (p.His798Asp)
|
rs1896227131
|
|
NM_000057.4(BLM):c.2396G>T (p.Cys799Phe)
|
|
|
NM_000057.4(BLM):c.2401A>G (p.Ser801Gly)
|
|
|
NM_000057.4(BLM):c.2406+5A>G
|
rs763104913
|
|
NM_000057.4(BLM):c.2406G>A (p.Gln802=)
|
|
|
NM_000057.4(BLM):c.2411G>A (p.Gly804Glu)
|
|
|
NM_000057.4(BLM):c.2414A>G (p.His805Arg)
|
rs766292814
|
|
NM_000057.4(BLM):c.2419T>A (p.Phe807Ile)
|
|
|
NM_000057.4(BLM):c.241A>G (p.Thr81Ala)
|
rs1060500637
|
|
NM_000057.4(BLM):c.2426A>G (p.Gln809Arg)
|
|
|
NM_000057.4(BLM):c.2434A>G (p.Lys812Glu)
|
rs763827222
|
|
NM_000057.4(BLM):c.2435A>G (p.Lys812Arg)
|
|
|
NM_000057.4(BLM):c.2442G>T (p.Met814Ile)
|
rs1896237351
|
|
NM_000057.4(BLM):c.2443A>C (p.Asn815His)
|
|
|
NM_000057.4(BLM):c.2443A>G (p.Asn815Asp)
|
|
|
NM_000057.4(BLM):c.2444A>C (p.Asn815Thr)
|
|
|
NM_000057.4(BLM):c.2447T>C (p.Met816Thr)
|
|
|
NM_000057.4(BLM):c.2448G>A (p.Met816Ile)
|
|
|
NM_000057.4(BLM):c.244A>G (p.Asn82Asp)
|
|
|
NM_000057.4(BLM):c.2452C>T (p.Arg818Cys)
|
rs1279814185
|
|
NM_000057.4(BLM):c.2452_2454delinsGGG (p.Arg818Gly)
|
rs587779882
|
|
NM_000057.4(BLM):c.2453G>T (p.Arg818Leu)
|
rs780514723
|
|
NM_000057.4(BLM):c.2460G>T (p.Lys820Asn)
|
rs1596238751
|
|
NM_000057.4(BLM):c.2474C>A (p.Pro825Gln)
|
|
|
NM_000057.4(BLM):c.2480T>A (p.Met827Lys)
|
rs748250819
|
|
NM_000057.4(BLM):c.2480T>C (p.Met827Thr)
|
rs748250819
|
|
NM_000057.4(BLM):c.2483C>T (p.Ala828Val)
|
rs2151166225
|
|
NM_000057.4(BLM):c.2485C>T (p.Leu829Phe)
|
|
|
NM_000057.4(BLM):c.2489C>A (p.Thr830Lys)
|
rs759545027
|
|
NM_000057.4(BLM):c.2489C>G (p.Thr830Arg)
|
rs759545027
|
|
NM_000057.4(BLM):c.2494A>T (p.Thr832Ser)
|
|
|
NM_000057.4(BLM):c.2495C>T (p.Thr832Ile)
|
|
|
NM_000057.4(BLM):c.2498C>G (p.Ala833Gly)
|
|
|
NM_000057.4(BLM):c.2502T>G (p.Asn834Lys)
|
|
|
NM_000057.4(BLM):c.2503C>T (p.Pro835Ser)
|
rs2151166278
|
|
NM_000057.4(BLM):c.2506A>G (p.Arg836Gly)
|
rs577806633
|
|
NM_000057.4(BLM):c.2508G>C (p.Arg836Ser)
|
|
|
NM_000057.4(BLM):c.2515_2517del (p.Lys839del)
|
|
|
NM_000057.4(BLM):c.2516A>C (p.Lys839Thr)
|
|
|
NM_000057.4(BLM):c.2516A>G (p.Lys839Arg)
|
rs756815062
|
|
NM_000057.4(BLM):c.2518G>A (p.Asp840Asn)
|
rs1238410843
|
|
NM_000057.4(BLM):c.2521A>G (p.Ile841Val)
|
|
|
NM_000057.4(BLM):c.2522T>A (p.Ile841Asn)
|
|
|
NM_000057.4(BLM):c.2528C>T (p.Thr843Ile)
|
rs137853152
|
|
NM_000057.4(BLM):c.2532G>T (p.Gln844His)
|
rs1596238939
|
|
NM_000057.4(BLM):c.2534T>C (p.Leu845Pro)
|
|
|
NM_000057.4(BLM):c.2539A>G (p.Ile847Val)
|
|
|
NM_000057.4(BLM):c.2539A>T (p.Ile847Phe)
|
rs1896243843
|
|
NM_000057.4(BLM):c.2540T>G (p.Ile847Ser)
|
rs756664681
|
|
NM_000057.4(BLM):c.2549C>T (p.Pro850Leu)
|
rs1896244485
|
|
NM_000057.4(BLM):c.2556-8T>C
|
rs1567052156
|
|
NM_000057.4(BLM):c.2570T>G (p.Phe857Cys)
|
|
|
NM_000057.4(BLM):c.2576G>A (p.Arg859Lys)
|
|
|
NM_000057.4(BLM):c.257T>A (p.Val86Asp)
|
|
|
NM_000057.4(BLM):c.2584C>G (p.Leu862Val)
|
rs1596250300
|
|
NM_000057.4(BLM):c.2593T>C (p.Tyr865His)
|
|
|
NM_000057.4(BLM):c.2594A>C (p.Tyr865Ser)
|
rs777842626
|
|
NM_000057.4(BLM):c.25C>G (p.Leu9Val)
|
rs1596215640
|
|
NM_000057.4(BLM):c.2601A>C (p.Leu867Phe)
|
|
|
NM_000057.4(BLM):c.2603C>G (p.Pro868Arg)
|
rs2227935
|
|
NM_000057.4(BLM):c.2605A>G (p.Lys869Glu)
|
|
|
NM_000057.4(BLM):c.2606A>G (p.Lys869Arg)
|
|
|
NM_000057.4(BLM):c.2608A>C (p.Lys870Gln)
|
rs2151178094
|
|
NM_000057.4(BLM):c.2614A>G (p.Lys872Glu)
|
|
|
NM_000057.4(BLM):c.2617A>C (p.Lys873Gln)
|
|
|
NM_000057.4(BLM):c.2618A>G (p.Lys873Arg)
|
|
|
NM_000057.4(BLM):c.2619G>T (p.Lys873Asn)
|
|
|
NM_000057.4(BLM):c.2620G>A (p.Val874Met)
|
rs1896652959
|
|
NM_000057.4(BLM):c.2622G>A (p.Val874=)
|
rs760261440
|
|
NM_000057.4(BLM):c.2623G>A (p.Ala875Thr)
|
|
|
NM_000057.4(BLM):c.2624C>A (p.Ala875Glu)
|
rs1596250413
|
|
NM_000057.4(BLM):c.2624C>T (p.Ala875Val)
|
|
|
NM_000057.4(BLM):c.262G>C (p.Asp88His)
|
rs752379441
|
|
NM_000057.4(BLM):c.262G>T (p.Asp88Tyr)
|
|
|
NM_000057.4(BLM):c.2630A>G (p.Asp877Gly)
|
rs1373872204
|
|
NM_000057.4(BLM):c.2639A>G (p.Glu880Gly)
|
rs2151178151
|
|
NM_000057.4(BLM):c.2647A>G (p.Arg883Gly)
|
rs1035944262
|
|
NM_000057.4(BLM):c.264CTT[1] (p.Phe90del)
|
rs1555418301
|
|
NM_000057.4(BLM):c.2657A>T (p.His886Leu)
|
|
|
NM_000057.4(BLM):c.2660C>T (p.Pro887Leu)
|
|
|
NM_000057.4(BLM):c.2667T>C (p.Asp889=)
|
|
|
NM_000057.4(BLM):c.2671G>A (p.Gly891Arg)
|
|
|
NM_000057.4(BLM):c.2672G>A (p.Gly891Glu)
|
rs763471784
|
|
NM_000057.4(BLM):c.2676A>G (p.Ile892Met)
|
|
|
NM_000057.4(BLM):c.2683T>C (p.Cys895Arg)
|
|
|
NM_000057.4(BLM):c.2683T>G (p.Cys895Gly)
|
rs587779883
|
|
NM_000057.4(BLM):c.2684G>A (p.Cys895Tyr)
|
|
|
NM_000057.4(BLM):c.2686C>G (p.Leu896Val)
|
rs151309611
|
|
NM_000057.4(BLM):c.2686C>T (p.Leu896Phe)
|
rs151309611
|
|
NM_000057.4(BLM):c.2687T>C (p.Leu896Pro)
|
|
|
NM_000057.4(BLM):c.2689T>C (p.Ser897Pro)
|
rs1896706876
|
|
NM_000057.4(BLM):c.2692A>T (p.Arg898Trp)
|
|
|
NM_000057.4(BLM):c.2695C>G (p.Arg899Gly)
|
rs587779884
|
|
NM_000057.4(BLM):c.2704G>A (p.Asp902Asn)
|
|
|
NM_000057.4(BLM):c.2708C>A (p.Thr903Asn)
|
rs777584683
|
|
NM_000057.4(BLM):c.2711T>C (p.Met904Thr)
|
|
|
NM_000057.4(BLM):c.2713G>A (p.Ala905Thr)
|
rs1596252085
|
|
NM_000057.4(BLM):c.2714C>T (p.Ala905Val)
|
|
|
NM_000057.4(BLM):c.2716G>A (p.Asp906Asn)
|
rs2151179756
|
|
NM_000057.4(BLM):c.2725C>G (p.Gln909Glu)
|
rs1456964727
|
|
NM_000057.4(BLM):c.2729G>C (p.Arg910Thr)
|
rs1567053290
|
|
NM_000057.4(BLM):c.2732A>T (p.Asp911Val)
|
rs1596252149
|
|
NM_000057.4(BLM):c.2735G>A (p.Gly912Glu)
|
rs2151179803
|
|
NM_000057.4(BLM):c.2737C>T (p.Leu913Phe)
|
|
|
NM_000057.4(BLM):c.2740G>T (p.Ala914Ser)
|
|
|
NM_000057.4(BLM):c.2743G>A (p.Ala915Thr)
|
rs1896709530
|
|
NM_000057.4(BLM):c.2746C>G (p.Leu916Val)
|
rs1424143421
|
|
NM_000057.4(BLM):c.2746C>T (p.Leu916Phe)
|
|
|
NM_000057.4(BLM):c.2755C>G (p.His919Asp)
|
|
|
NM_000057.4(BLM):c.2755C>T (p.His919Tyr)
|
rs1284859576
|
|
NM_000057.4(BLM):c.2762G>C (p.Gly921Ala)
|
|
|
NM_000057.4(BLM):c.2768G>A (p.Ser923Asn)
|
rs1219485932
|
|
NM_000057.4(BLM):c.2774C>A (p.Ser925Tyr)
|
rs2151179877
|
|
NM_000057.4(BLM):c.277G>A (p.Ala93Thr)
|
|
|
NM_000057.4(BLM):c.2783A>G (p.Asp928Gly)
|
rs1896711135
|
|
NM_000057.4(BLM):c.2784T>G (p.Asp928Glu)
|
rs1032746564
|
|
NM_000057.4(BLM):c.2785G>A (p.Glu929Lys)
|
|
|
NM_000057.4(BLM):c.2787A>C (p.Glu929Asp)
|
rs764679551
|
|
NM_000057.4(BLM):c.2789T>G (p.Val930Gly)
|
rs2151179915
|
|
NM_000057.4(BLM):c.2815G>A (p.Gly939Ser)
|
|
|
NM_000057.4(BLM):c.2823+5C>T
|
|
|
NM_000057.4(BLM):c.2823G>T (p.Gln941His)
|
|
|
NM_000057.4(BLM):c.2824-5A>G
|
|
|
NM_000057.4(BLM):c.2829C>G (p.Ile943Met)
|
rs1596257034
|
|
NM_000057.4(BLM):c.2833G>A (p.Ala945Thr)
|
rs1896880211
|
|
NM_000057.4(BLM):c.2833G>T (p.Ala945Ser)
|
|
|
NM_000057.4(BLM):c.2843C>A (p.Ala948Glu)
|
rs1156545383
|
|
NM_000057.4(BLM):c.2849G>A (p.Gly950Glu)
|
|
|
NM_000057.4(BLM):c.284C>A (p.Ala95Glu)
|
rs751028188
|
|
NM_000057.4(BLM):c.284C>T (p.Ala95Val)
|
rs751028188
|
|
NM_000057.4(BLM):c.2853G>C (p.Met951Ile)
|
|
|
NM_000057.4(BLM):c.2853G>T (p.Met951Ile)
|
rs1896881384
|
|
NM_000057.4(BLM):c.2858T>C (p.Ile953Thr)
|
rs587778102
|
|
NM_000057.4(BLM):c.2860G>A (p.Asp954Asn)
|
|
|
NM_000057.4(BLM):c.2862C>A (p.Asp954Glu)
|
|
|
NM_000057.4(BLM):c.2862C>G (p.Asp954Glu)
|
|
|
NM_000057.4(BLM):c.2872G>T (p.Val958Leu)
|
|
|
NM_000057.4(BLM):c.2878T>A (p.Phe960Ile)
|
|
|
NM_000057.4(BLM):c.2878T>C (p.Phe960Leu)
|
|
|
NM_000057.4(BLM):c.2884A>T (p.Ile962Phe)
|
rs1896883323
|
|
NM_000057.4(BLM):c.2887C>A (p.His963Asn)
|
|
|
NM_000057.4(BLM):c.2891C>T (p.Ala964Val)
|
|
|
NM_000057.4(BLM):c.2893T>A (p.Ser965Thr)
|
rs1349078237
|
|
NM_000057.4(BLM):c.2896C>T (p.Leu966Phe)
|
|
|
NM_000057.4(BLM):c.2897T>C (p.Leu966Pro)
|
|
|
NM_000057.4(BLM):c.2899C>T (p.Pro967Ser)
|
|
|
NM_000057.4(BLM):c.2908G>C (p.Val970Leu)
|
|
|
NM_000057.4(BLM):c.2909T>G (p.Val970Gly)
|
|
|
NM_000057.4(BLM):c.290A>C (p.Gln97Pro)
|
|
|
NM_000057.4(BLM):c.290A>G (p.Gln97Arg)
|
|
|
NM_000057.4(BLM):c.2915G>A (p.Gly972Asp)
|
|
|
NM_000057.4(BLM):c.2925A>T (p.Gln975His)
|
|
|
NM_000057.4(BLM):c.2927A>G (p.Glu976Gly)
|
|
|
NM_000057.4(BLM):c.2929T>G (p.Ser977Ala)
|
rs912097353
|
|
NM_000057.4(BLM):c.292G>A (p.Glu98Lys)
|
rs1895608811
|
|
NM_000057.4(BLM):c.2936G>A (p.Arg979Lys)
|
rs944867688
|
|
NM_000057.4(BLM):c.2938G>A (p.Ala980Thr)
|
rs1041847799
|
|
NM_000057.4(BLM):c.2939C>T (p.Ala980Val)
|
|
|
NM_000057.4(BLM):c.2945G>A (p.Arg982Lys)
|
rs1281589498
|
|
NM_000057.4(BLM):c.2947G>T (p.Asp983Tyr)
|
rs1896886181
|
|
NM_000057.4(BLM):c.2948A>T (p.Asp983Val)
|
rs1896886266
|
|
NM_000057.4(BLM):c.2955A>C (p.Glu985Asp)
|
|
|
NM_000057.4(BLM):c.2960C>T (p.Ser987Phe)
|
rs1555423111
|
|
NM_000057.4(BLM):c.2962C>T (p.His988Tyr)
|
rs1896886993
|
|
NM_000057.4(BLM):c.2965T>G (p.Cys989Gly)
|
|
|
NM_000057.4(BLM):c.2978A>G (p.Tyr993Cys)
|
|
|
NM_000057.4(BLM):c.2981_2982delinsAG (p.Thr994Lys)
|
|
|
NM_000057.4(BLM):c.2983T>A (p.Tyr995Asn)
|
rs142723411
|
|
NM_000057.4(BLM):c.2984A>G (p.Tyr995Cys)
|
rs779755994
|
|
NM_000057.4(BLM):c.2984A>T (p.Tyr995Phe)
|
rs779755994
|
|
NM_000057.4(BLM):c.2986C>T (p.His996Tyr)
|
|
|
NM_000057.4(BLM):c.2990A>G (p.Asp997Gly)
|
|
|
NM_000057.4(BLM):c.2992G>A (p.Val998Met)
|
|
|
NM_000057.4(BLM):c.2999G>C (p.Arg1000Thr)
|
rs1596257309
|
|
NM_000057.4(BLM):c.299A>C (p.Gln100Pro)
|
|
|
NM_000057.4(BLM):c.29A>G (p.Gln10Arg)
|
|
|
NM_000057.4(BLM):c.3000A>C (p.Arg1000Ser)
|
|
|
NM_000057.4(BLM):c.3000A>T (p.Arg1000Ser)
|
rs1395403568
|
|
NM_000057.4(BLM):c.3002T>A (p.Leu1001Gln)
|
|
|
NM_000057.4(BLM):c.3005A>C (p.Lys1002Thr)
|
rs1596257327
|
|
NM_000057.4(BLM):c.3005A>G (p.Lys1002Arg)
|
rs1596257327
|
|
NM_000057.4(BLM):c.3010C>T (p.Leu1004Phe)
|
rs778515103
|
|
NM_000057.4(BLM):c.3011T>G (p.Leu1004Arg)
|
|
|
NM_000057.4(BLM):c.3014T>A (p.Ile1005Lys)
|
rs772671554
|
|
NM_000057.4(BLM):c.3017T>A (p.Met1006Lys)
|
rs1896890020
|
|
NM_000057.4(BLM):c.3020-4_3020-3del
|
rs1596259793
|
|
NM_000057.4(BLM):c.3023A>T (p.Glu1008Val)
|
rs1896971371
|
|
NM_000057.4(BLM):c.3029A>T (p.Asp1010Val)
|
rs1459742200
|
|
NM_000057.4(BLM):c.3038A>G (p.His1013Arg)
|
rs2151187153
|
|
NM_000057.4(BLM):c.3039T>A (p.His1013Gln)
|
|
|
NM_000057.4(BLM):c.3047G>C (p.Arg1016Thr)
|
rs2151187181
|
|
NM_000057.4(BLM):c.304G>A (p.Gly102Ser)
|
rs1215126785
|
|
NM_000057.4(BLM):c.3050A>G (p.Glu1017Gly)
|
rs2151187186
|
|
NM_000057.4(BLM):c.3051A>C (p.Glu1017Asp)
|
|
|
NM_000057.4(BLM):c.3052A>G (p.Thr1018Ala)
|
rs1896972868
|
|
NM_000057.4(BLM):c.3055C>T (p.His1019Tyr)
|
|
|
NM_000057.4(BLM):c.3056A>C (p.His1019Pro)
|
rs769982824
|
|
NM_000057.4(BLM):c.3058T>C (p.Phe1020Leu)
|
|
|
NM_000057.4(BLM):c.305G>A (p.Gly102Asp)
|
rs1186813751
|
|
NM_000057.4(BLM):c.3061A>G (p.Asn1021Asp)
|
rs374105075
|
|
NM_000057.4(BLM):c.3062A>T (p.Asn1021Ile)
|
rs369629509
|
|
NM_000057.4(BLM):c.3065A>C (p.Asn1022Thr)
|
rs1567058281
|
|
NM_000057.4(BLM):c.3069G>T (p.Leu1023Phe)
|
|
|
NM_000057.4(BLM):c.3073A>G (p.Ser1025Gly)
|
|
|
NM_000057.4(BLM):c.3079G>C (p.Val1027Leu)
|
|
|
NM_000057.4(BLM):c.3080T>G (p.Val1027Gly)
|
|
|
NM_000057.4(BLM):c.3088T>C (p.Cys1030Arg)
|
|
|
NM_000057.4(BLM):c.3088T>G (p.Cys1030Gly)
|
rs1896974604
|
|
NM_000057.4(BLM):c.3089G>A (p.Cys1030Tyr)
|
|
|
NM_000057.4(BLM):c.3094A>T (p.Asn1032Tyr)
|
rs1311585637
|
|
NM_000057.4(BLM):c.3095A>G (p.Asn1032Ser)
|
|
|
NM_000057.4(BLM):c.3097A>G (p.Ile1033Val)
|
|
|
NM_000057.4(BLM):c.3100A>G (p.Thr1034Ala)
|
|
|
NM_000057.4(BLM):c.3101C>T (p.Thr1034Met)
|
rs753652339
|
|
NM_000057.4(BLM):c.3107G>A (p.Cys1036Tyr)
|
|
|
NM_000057.4(BLM):c.3113G>C (p.Arg1038Thr)
|
rs1555423425
|
|
NM_000057.4(BLM):c.3114A>C (p.Arg1038Ser)
|
rs1896976226
|
|
NM_000057.4(BLM):c.3114A>T (p.Arg1038Ser)
|
|
|
NM_000057.4(BLM):c.3116T>C (p.Ile1039Thr)
|
|
|
NM_000057.4(BLM):c.3119A>G (p.Gln1040Arg)
|
|
|
NM_000057.4(BLM):c.3128C>T (p.Ala1043Val)
|
rs2229035
|
|
NM_000057.4(BLM):c.3137G>T (p.Gly1046Val)
|
rs1596260021
|
|
NM_000057.4(BLM):c.3145G>A (p.Gly1049Arg)
|
|
|
NM_000057.4(BLM):c.3153T>A (p.Asn1051Lys)
|
rs1262516507
|
|
NM_000057.4(BLM):c.3154C>A (p.Pro1052Thr)
|
rs1596260044
|
|
NM_000057.4(BLM):c.3154C>T (p.Pro1052Ser)
|
|
|
NM_000057.4(BLM):c.3160T>G (p.Phe1054Val)
|
rs2151187383
|
|
NM_000057.4(BLM):c.3166A>G (p.Lys1056Glu)
|
|
|
NM_000057.4(BLM):c.3167A>G (p.Lys1056Arg)
|
rs1465842377
|
|
NM_000057.4(BLM):c.3170A>G (p.Lys1057Arg)
|
|
|
NM_000057.4(BLM):c.3171A>T (p.Lys1057Asn)
|
|
|
NM_000057.4(BLM):c.3174C>A (p.His1058Gln)
|
|
|
NM_000057.4(BLM):c.3174C>G (p.His1058Gln)
|
|
|
NM_000057.4(BLM):c.3175C>G (p.Pro1059Ala)
|
|
|
NM_000057.4(BLM):c.3181G>A (p.Val1061Ile)
|
|
|
NM_000057.4(BLM):c.3184T>G (p.Ser1062Ala)
|
|
|
NM_000057.4(BLM):c.3191A>G (p.Asp1064Gly)
|
rs367543032
|
|
NM_000057.4(BLM):c.3200G>A (p.Cys1067Tyr)
|
rs587779885
|
|
NM_000057.4(BLM):c.3205A>G (p.Thr1069Ala)
|
|
|
NM_000057.4(BLM):c.3211-3T>C
|
rs1897074828
|
|
NM_000057.4(BLM):c.3212A>G (p.Asp1071Gly)
|
rs1897075069
|
|
NM_000057.4(BLM):c.3212A>T (p.Asp1071Val)
|
|
|
NM_000057.4(BLM):c.3215A>G (p.Tyr1072Cys)
|
|
|
NM_000057.4(BLM):c.3217A>G (p.Lys1073Glu)
|
|
|
NM_000057.4(BLM):c.3221C>G (p.Thr1074Arg)
|
rs144021705
|
|
NM_000057.4(BLM):c.3224G>A (p.Arg1075Lys)
|
rs749559270
|
|
NM_000057.4(BLM):c.3228T>G (p.Asp1076Glu)
|
rs2151190260
|
|
NM_000057.4(BLM):c.3230T>C (p.Val1077Ala)
|
|
|
NM_000057.4(BLM):c.3237C>A (p.Asp1079Glu)
|
|
|
NM_000057.4(BLM):c.3238G>C (p.Asp1080His)
|
rs771767745
|
|
NM_000057.4(BLM):c.3238G>T (p.Asp1080Tyr)
|
|
|
NM_000057.4(BLM):c.3239A>C (p.Asp1080Ala)
|
rs775383361
|
|
NM_000057.4(BLM):c.3239A>T (p.Asp1080Val)
|
rs775383361
|
|
NM_000057.4(BLM):c.323T>C (p.Leu108Ser)
|
|
|
NM_000057.4(BLM):c.3242T>A (p.Val1081Glu)
|
rs762716289
|
|
NM_000057.4(BLM):c.3242T>G (p.Val1081Gly)
|
rs762716289
|
|
NM_000057.4(BLM):c.3250A>G (p.Ile1084Val)
|
|
|
NM_000057.4(BLM):c.3254T>A (p.Val1085Glu)
|
|
|
NM_000057.4(BLM):c.3254T>G (p.Val1085Gly)
|
rs2151190324
|
|
NM_000057.4(BLM):c.3262G>A (p.Val1088Ile)
|
rs934966838
|
|
NM_000057.4(BLM):c.3262G>C (p.Val1088Leu)
|
rs934966838
|
|
NM_000057.4(BLM):c.3262G>T (p.Val1088Phe)
|
rs934966838
|
|
NM_000057.4(BLM):c.3268G>A (p.Glu1090Lys)
|
|
|
NM_000057.4(BLM):c.326C>G (p.Pro109Arg)
|
rs1555418317
|
|
NM_000057.4(BLM):c.3272A>G (p.His1091Arg)
|
rs750954124
|
|
NM_000057.4(BLM):c.3273T>G (p.His1091Gln)
|
|
|
NM_000057.4(BLM):c.3276T>A (p.Ser1092Arg)
|
|
|
NM_000057.4(BLM):c.3286G>A (p.Gly1096Arg)
|
rs1334208387
|
|
NM_000057.4(BLM):c.3287G>T (p.Gly1096Val)
|
rs893352310
|
|
NM_000057.4(BLM):c.3295A>G (p.Asn1099Asp)
|
|
|
NM_000057.4(BLM):c.3297T>G (p.Asn1099Lys)
|
rs1596263307
|
|
NM_000057.4(BLM):c.32A>G (p.Glu11Gly)
|
|
|
NM_000057.4(BLM):c.3304C>T (p.His1102Tyr)
|
|
|
NM_000057.4(BLM):c.3313C>T (p.Pro1105Ser)
|
|
|
NM_000057.4(BLM):c.3314C>T (p.Pro1105Leu)
|
|
|
NM_000057.4(BLM):c.3316_3318del (p.Ser1106del)
|
|
|
NM_000057.4(BLM):c.3334A>G (p.Asn1112Asp)
|
rs1352520577
|
|
NM_000057.4(BLM):c.3335A>C (p.Asn1112Thr)
|
|
|
NM_000057.4(BLM):c.3335A>G (p.Asn1112Ser)
|
rs1897081867
|
|
NM_000057.4(BLM):c.3346G>A (p.Asp1116Asn)
|
|
|
NM_000057.4(BLM):c.3348C>A (p.Asp1116Glu)
|
|
|
NM_000057.4(BLM):c.3354C>A (p.Phe1118Leu)
|
rs1351493073
|
|
NM_000057.4(BLM):c.3358+5G>C
|
rs2151190518
|
|
NM_000057.4(BLM):c.3358G>C (p.Gly1120Arg)
|
rs139773499
|
|
NM_000057.4(BLM):c.3359-3C>G
|
rs765552044
|
|
NM_000057.4(BLM):c.3359-4_3359-3delinsCG
|
|
|
NM_000057.4(BLM):c.3362G>C (p.Ser1121Thr)
|
rs758753168
|
|
NM_000057.4(BLM):c.3362G>T (p.Ser1121Ile)
|
rs758753168
|
|
NM_000057.4(BLM):c.3365A>C (p.Lys1122Thr)
|
rs1175406197
|
|
NM_000057.4(BLM):c.3367A>G (p.Ser1123Gly)
|
|
|
NM_000057.4(BLM):c.3371C>T (p.Ala1124Val)
|
rs751765688
|
|
NM_000057.4(BLM):c.3377T>G (p.Ile1126Ser)
|
|
|
NM_000057.4(BLM):c.3380A>T (p.Gln1127Leu)
|
|
|
NM_000057.4(BLM):c.3385G>C (p.Gly1129Arg)
|
rs781287681
|
|
NM_000057.4(BLM):c.3386G>C (p.Gly1129Ala)
|
rs375841213
|
|
NM_000057.4(BLM):c.3386G>T (p.Gly1129Val)
|
rs375841213
|
|
NM_000057.4(BLM):c.3388A>G (p.Ile1130Val)
|
rs1897213239
|
|
NM_000057.4(BLM):c.3389T>C (p.Ile1130Thr)
|
|
|
NM_000057.4(BLM):c.3393T>G (p.Phe1131Leu)
|
|
|
NM_000057.4(BLM):c.3394G>C (p.Gly1132Arg)
|
|
|
NM_000057.4(BLM):c.3398A>G (p.Lys1133Arg)
|
|
|
NM_000057.4(BLM):c.3400G>A (p.Gly1134Arg)
|
rs1057516774
|
|
NM_000057.4(BLM):c.3403T>A (p.Ser1135Thr)
|
|
|
NM_000057.4(BLM):c.3404C>T (p.Ser1135Phe)
|
|
|
NM_000057.4(BLM):c.3406G>T (p.Ala1136Ser)
|
|
|
NM_000057.4(BLM):c.3410A>G (p.Tyr1137Cys)
|
|
|
NM_000057.4(BLM):c.3416G>C (p.Arg1139Pro)
|
rs771776126
|
|
NM_000057.4(BLM):c.3418C>T (p.His1140Tyr)
|
rs746602812
|
|
NM_000057.4(BLM):c.341C>T (p.Thr114Ile)
|
|
|
NM_000057.4(BLM):c.3425C>T (p.Ala1142Val)
|
|
|
NM_000057.4(BLM):c.3433C>G (p.Leu1145Val)
|
|
|
NM_000057.4(BLM):c.3437T>C (p.Phe1146Ser)
|
|
|
NM_000057.4(BLM):c.343C>A (p.Pro115Thr)
|
rs1173491187
|
|
NM_000057.4(BLM):c.3443A>C (p.Lys1148Thr)
|
rs1897215421
|
|
NM_000057.4(BLM):c.3445C>A (p.Leu1149Met)
|
|
|
NM_000057.4(BLM):c.3448A>T (p.Ile1150Leu)
|
|
|
NM_000057.4(BLM):c.344C>G (p.Pro115Arg)
|
|
|
NM_000057.4(BLM):c.3456C>A (p.Asp1152Glu)
|
rs1897216087
|
|
NM_000057.4(BLM):c.3456C>G (p.Asp1152Glu)
|
rs1897216087
|
|
NM_000057.4(BLM):c.3460A>G (p.Ile1154Val)
|
rs2151194288
|
|
NM_000057.4(BLM):c.3467A>G (p.Asp1156Gly)
|
|
|
NM_000057.4(BLM):c.3472G>C (p.Asp1158His)
|
rs1567062737
|
|
NM_000057.4(BLM):c.3476T>C (p.Leu1159Ser)
|
|
|
NM_000057.4(BLM):c.3478T>A (p.Tyr1160Asn)
|
rs752389778
|
|
NM_000057.4(BLM):c.3481A>G (p.Ile1161Val)
|
rs1897217586
|
|
NM_000057.4(BLM):c.3483C>G (p.Ile1161Met)
|
|
|
NM_000057.4(BLM):c.3488C>T (p.Ala1163Val)
|
|
|
NM_000057.4(BLM):c.348G>C (p.Lys116Asn)
|
rs749535664
|
|
NM_000057.4(BLM):c.3495C>G (p.Asp1165Glu)
|
rs767536788
|
|
NM_000057.4(BLM):c.3497A>G (p.Gln1166Arg)
|
|
|
NM_000057.4(BLM):c.3497A>T (p.Gln1166Leu)
|
rs371774802
|
|
NM_000057.4(BLM):c.3500C>A (p.Ala1167Glu)
|
|
|
NM_000057.4(BLM):c.3500C>G (p.Ala1167Gly)
|
rs987150263
|
|
NM_000057.4(BLM):c.3503T>C (p.Ile1168Thr)
|
rs1897218823
|
|
NM_000057.4(BLM):c.3505G>T (p.Ala1169Ser)
|
|
|
NM_000057.4(BLM):c.3506C>T (p.Ala1169Val)
|
|
|
NM_000057.4(BLM):c.3509A>G (p.Tyr1170Cys)
|
rs746692894
|
|
NM_000057.4(BLM):c.3509A>T (p.Tyr1170Phe)
|
rs746692894
|
|
NM_000057.4(BLM):c.3511G>A (p.Val1171Met)
|
rs770585247
|
|
NM_000057.4(BLM):c.3514A>C (p.Met1172Leu)
|
rs745380387
|
|
NM_000057.4(BLM):c.3514A>G (p.Met1172Val)
|
|
|
NM_000057.4(BLM):c.3517C>T (p.Leu1173Phe)
|
rs1596267698
|
|
NM_000057.4(BLM):c.3520G>A (p.Gly1174Arg)
|
rs776156059
|
|
NM_000057.4(BLM):c.3526A>G (p.Lys1176Glu)
|
|
|
NM_000057.4(BLM):c.3536C>G (p.Thr1179Ser)
|
|
|
NM_000057.4(BLM):c.3536C>T (p.Thr1179Ile)
|
rs1555424324
|
|
NM_000057.4(BLM):c.3538G>C (p.Val1180Leu)
|
|
|
NM_000057.4(BLM):c.3545A>G (p.Asn1182Ser)
|
rs767771169
|
|
NM_000057.4(BLM):c.3550A>G (p.Asn1184Asp)
|
rs1463025227
|
|
NM_000057.4(BLM):c.3551A>G (p.Asn1184Ser)
|
rs1596267777
|
|
NM_000057.4(BLM):c.3551A>T (p.Asn1184Ile)
|
|
|
NM_000057.4(BLM):c.3553T>G (p.Leu1185Val)
|
|
|
NM_000057.4(BLM):c.3558+2T>C
|
rs1897222054
|
|
NM_000057.4(BLM):c.3562G>A (p.Asp1188Asn)
|
|
|
NM_000057.4(BLM):c.3563A>C (p.Asp1188Ala)
|
|
|
NM_000057.4(BLM):c.3563A>G (p.Asp1188Gly)
|
rs899745787
|
|
NM_000057.4(BLM):c.3563A>T (p.Asp1188Val)
|
rs899745787
|
|
NM_000057.4(BLM):c.3569T>A (p.Met1190Lys)
|
|
|
NM_000057.4(BLM):c.3577G>A (p.Glu1193Lys)
|
|
|
NM_000057.4(BLM):c.3586A>G (p.Ser1196Gly)
|
|
|
NM_000057.4(BLM):c.3589A>T (p.Ser1197Cys)
|
rs1596268133
|
|
NM_000057.4(BLM):c.358T>C (p.Cys120Arg)
|
|
|
NM_000057.4(BLM):c.3593T>C (p.Val1198Ala)
|
|
|
NM_000057.4(BLM):c.3598A>C (p.Lys1200Gln)
|
|
|
NM_000057.4(BLM):c.359G>T (p.Cys120Phe)
|
|
|
NM_000057.4(BLM):c.3601C>A (p.Gln1201Lys)
|
|
|
NM_000057.4(BLM):c.3607G>A (p.Ala1203Thr)
|
rs1335563585
|
|
NM_000057.4(BLM):c.3610T>C (p.Leu1204=)
|
|
|
NM_000057.4(BLM):c.3612A>G (p.Leu1204=)
|
|
|
NM_000057.4(BLM):c.3612A>T (p.Leu1204Phe)
|
|
|
NM_000057.4(BLM):c.3614T>A (p.Val1205Glu)
|
|
|
NM_000057.4(BLM):c.3614T>C (p.Val1205Ala)
|
|
|
NM_000057.4(BLM):c.3616G>A (p.Ala1206Thr)
|
rs1897234089
|
|
NM_000057.4(BLM):c.3616G>C (p.Ala1206Pro)
|
|
|
NM_000057.4(BLM):c.3617C>A (p.Ala1206Glu)
|
rs1319362226
|
|
NM_000057.4(BLM):c.3619A>G (p.Lys1207Glu)
|
|
|
NM_000057.4(BLM):c.3629A>G (p.Gln1210Arg)
|
|
|
NM_000057.4(BLM):c.3641T>C (p.Met1214Thr)
|
rs1596268211
|
|
NM_000057.4(BLM):c.3643G>T (p.Val1215Phe)
|
|
|
NM_000057.4(BLM):c.3647A>C (p.Lys1216Thr)
|
rs748798772
|
|
NM_000057.4(BLM):c.3651A>T (p.Lys1217Asn)
|
rs587779887
|
|
NM_000057.4(BLM):c.3658G>A (p.Gly1220Arg)
|
rs1567063212
|
|
NM_000057.4(BLM):c.3659G>A (p.Gly1220Glu)
|
|
|
NM_000057.4(BLM):c.365C>T (p.Thr122Ile)
|
|
|
NM_000057.4(BLM):c.3668C>A (p.Thr1223Lys)
|
rs772506214
|
|
NM_000057.4(BLM):c.3668C>G (p.Thr1223Arg)
|
rs772506214
|
|
NM_000057.4(BLM):c.3668C>T (p.Thr1223Ile)
|
rs772506214
|
|
NM_000057.4(BLM):c.3671A>T (p.Glu1224Val)
|
|
|
NM_000057.4(BLM):c.3683C>A (p.Ser1228Tyr)
|
rs1897236482
|
|
NM_000057.4(BLM):c.3685C>G (p.Leu1229Val)
|
rs1555424395
|
|
NM_000057.4(BLM):c.368A>C (p.Gln123Pro)
|
|
|
NM_000057.4(BLM):c.3694G>A (p.Val1232Ile)
|
rs1897236925
|
|
NM_000057.4(BLM):c.369A>C (p.Gln123His)
|
|
|
NM_000057.4(BLM):c.3700G>A (p.Gly1234Ser)
|
|
|
NM_000057.4(BLM):c.3701G>A (p.Gly1234Asp)
|
|
|
NM_000057.4(BLM):c.3718A>G (p.Ile1240Val)
|
|
|
NM_000057.4(BLM):c.3730G>A (p.Val1244Ile)
|
rs1249106324
|
|
NM_000057.4(BLM):c.3730G>T (p.Val1244Phe)
|
rs1249106324
|
|
NM_000057.4(BLM):c.3743A>G (p.Lys1248Arg)
|
rs1555424404
|
|
NM_000057.4(BLM):c.3743A>T (p.Lys1248Met)
|
rs1555424404
|
|
NM_000057.4(BLM):c.3752-3C>T
|
|
|
NM_000057.4(BLM):c.3755C>A (p.Ser1252Tyr)
|
|
|
NM_000057.4(BLM):c.3757T>A (p.Leu1253Ile)
|
|
|
NM_000057.4(BLM):c.3757T>G (p.Leu1253Val)
|
rs1249288071
|
|
NM_000057.4(BLM):c.3758T>C (p.Leu1253Ser)
|
rs2151198266
|
|
NM_000057.4(BLM):c.3760T>C (p.Ser1254Pro)
|
|
|
NM_000057.4(BLM):c.3764C>T (p.Ser1255Phe)
|
rs1897347737
|
|
NM_000057.4(BLM):c.3769C>A (p.Pro1257Thr)
|
|
|
NM_000057.4(BLM):c.376C>A (p.Pro126Thr)
|
|
|
NM_000057.4(BLM):c.376C>G (p.Pro126Ala)
|
rs587778106
|
|
NM_000057.4(BLM):c.3778T>G (p.Leu1260Val)
|
rs2151198289
|
|
NM_000057.4(BLM):c.3786A>G (p.Gln1262=)
|
rs1567065650
|
|
NM_000057.4(BLM):c.3787A>G (p.Ile1263Val)
|
|
|
NM_000057.4(BLM):c.3796G>A (p.Val1266Ile)
|
|
|
NM_000057.4(BLM):c.3803A>G (p.Glu1268Gly)
|
|
|
NM_000057.4(BLM):c.3803A>T (p.Glu1268Val)
|
rs1897348799
|
|
NM_000057.4(BLM):c.3805G>A (p.Asp1269Asn)
|
|
|
NM_000057.4(BLM):c.380C>T (p.Thr127Ile)
|
rs1895613545
|
|
NM_000057.4(BLM):c.3826G>A (p.Ala1276Thr)
|
rs1567065690
|
|
NM_000057.4(BLM):c.3827C>A (p.Ala1276Glu)
|
rs760554566
|
|
NM_000057.4(BLM):c.383T>C (p.Val128Ala)
|
|
|
NM_000057.4(BLM):c.3844T>G (p.Leu1282Val)
|
|
|
NM_000057.4(BLM):c.3849G>T (p.Gln1283His)
|
|
|
NM_000057.4(BLM):c.3857C>A (p.Ser1286Tyr)
|
|
|
NM_000057.4(BLM):c.3872C>A (p.Pro1291Gln)
|
|
|
NM_000057.4(BLM):c.3875-1G>A
|
rs2151199690
|
|
NM_000057.4(BLM):c.3875C>A (p.Ala1292Asp)
|
rs1567066745
|
|
NM_000057.4(BLM):c.3880G>T (p.Asp1294Tyr)
|
rs560132774
|
|
NM_000057.4(BLM):c.3883A>G (p.Ser1295Gly)
|
|
|
NM_000057.4(BLM):c.3884G>C (p.Ser1295Thr)
|
|
|
NM_000057.4(BLM):c.3889C>T (p.Pro1297Ser)
|
|
|
NM_000057.4(BLM):c.3893G>A (p.Gly1298Glu)
|
|
|
NM_000057.4(BLM):c.389A>G (p.Lys130Arg)
|
|
|
NM_000057.4(BLM):c.3905C>T (p.Ser1302Phe)
|
rs1897408433
|
|
NM_000057.4(BLM):c.3916G>A (p.Gly1306Ser)
|
|
|
NM_000057.4(BLM):c.3922G>C (p.Gly1308Arg)
|
rs768010078
|
|
NM_000057.4(BLM):c.3930T>A (p.Ser1310Arg)
|
|
|
NM_000057.4(BLM):c.3930T>G (p.Ser1310Arg)
|
rs886051552
|
|
NM_000057.4(BLM):c.3938A>C (p.Glu1313Ala)
|
rs754033839
|
|
NM_000057.4(BLM):c.3943C>T (p.Leu1315Phe)
|
rs959925706
|
|
NM_000057.4(BLM):c.3944T>C (p.Leu1315Pro)
|
|
|
NM_000057.4(BLM):c.3944_3945delinsCT (p.Leu1315Pro)
|
rs1567066844
|
|
NM_000057.4(BLM):c.3947A>G (p.Asp1316Gly)
|
|
|
NM_000057.4(BLM):c.3948C>A (p.Asp1316Glu)
|
rs375896520
|
|
NM_000057.4(BLM):c.3953A>G (p.Glu1318Gly)
|
rs2151199835
|
|
NM_000057.4(BLM):c.3955A>G (p.Ile1319Val)
|
|
|
NM_000057.4(BLM):c.3961G>C (p.Val1321Leu)
|
rs7167216
|
|
NM_000057.4(BLM):c.3965C>A (p.Ser1322Tyr)
|
|
|
NM_000057.4(BLM):c.3967T>C (p.Ser1323Pro)
|
|
|
NM_000057.4(BLM):c.3978T>G (p.Phe1326Leu)
|
|
|
NM_000057.4(BLM):c.397G>T (p.Asp133Tyr)
|
rs762621627
|
|
NM_000057.4(BLM):c.398A>G (p.Asp133Gly)
|
rs1895614433
|
|
NM_000057.4(BLM):c.3993A>C (p.Arg1331Ser)
|
|
|
NM_000057.4(BLM):c.4000_4004del (p.Arg1334fs)
|
rs1057516261
|
|
NM_000057.4(BLM):c.4005G>C (p.Lys1335Asn)
|
|
|
NM_000057.4(BLM):c.4006A>G (p.Arg1336Gly)
|
rs1897414526
|
|
NM_000057.4(BLM):c.4012A>C (p.Lys1338Gln)
|
|
|
NM_000057.4(BLM):c.4015A>G (p.Met1339Val)
|
|
|
NM_000057.4(BLM):c.4022C>A (p.Ala1341Asp)
|
|
|
NM_000057.4(BLM):c.4028A>G (p.Gln1343Arg)
|
rs2151199942
|
|
NM_000057.4(BLM):c.4039A>G (p.Arg1347Gly)
|
rs1596273711
|
|
NM_000057.4(BLM):c.403G>C (p.Ala135Pro)
|
rs373832397
|
|
NM_000057.4(BLM):c.404C>G (p.Ala135Gly)
|
|
|
NM_000057.4(BLM):c.4054T>A (p.Ser1352Thr)
|
|
|
NM_000057.4(BLM):c.4060_4062del (p.Gly1354del)
|
rs2151200003
|
|
NM_000057.4(BLM):c.4061G>T (p.Gly1354Val)
|
rs891751726
|
|
NM_000057.4(BLM):c.4069G>T (p.Ala1357Ser)
|
|
|
NM_000057.4(BLM):c.4075G>A (p.Gly1359Arg)
|
|
|
NM_000057.4(BLM):c.4076+1G>T
|
rs752899566
|
|
NM_000057.4(BLM):c.4076+1del
|
rs763072825
|
|
NM_000057.4(BLM):c.4076+5G>T
|
|
|
NM_000057.4(BLM):c.4078G>A (p.Gly1360Arg)
|
rs1897524090
|
|
NM_000057.4(BLM):c.4079G>A (p.Gly1360Glu)
|
rs1258712808
|
|
NM_000057.4(BLM):c.4079G>C (p.Gly1360Ala)
|
|
|
NM_000057.4(BLM):c.4079G>T (p.Gly1360Val)
|
|
|
NM_000057.4(BLM):c.407T>C (p.Leu136Pro)
|
|
|
NM_000057.4(BLM):c.407T>G (p.Leu136Arg)
|
|
|
NM_000057.4(BLM):c.4081T>C (p.Ser1361Pro)
|
|
|
NM_000057.4(BLM):c.4085C>G (p.Ala1362Gly)
|
rs2151202232
|
|
NM_000057.4(BLM):c.4090T>G (p.Cys1364Gly)
|
|
|
NM_000057.4(BLM):c.4091G>A (p.Cys1364Tyr)
|
|
|
NM_000057.4(BLM):c.4091G>C (p.Cys1364Ser)
|
|
|
NM_000057.4(BLM):c.4098G>C (p.Lys1366Asn)
|
|
|
NM_000057.4(BLM):c.4099A>G (p.Ile1367Val)
|
|
|
NM_000057.4(BLM):c.409A>G (p.Lys137Glu)
|
rs890597009
|
|
NM_000057.4(BLM):c.40G>C (p.Glu14Gln)
|
|
|
NM_000057.4(BLM):c.4108A>G (p.Lys1370Glu)
|
|
|
NM_000057.4(BLM):c.4109A>G (p.Lys1370Arg)
|
|
|
NM_000057.4(BLM):c.4115A>G (p.Lys1372Arg)
|
|
|
NM_000057.4(BLM):c.4117T>A (p.Ser1373Thr)
|
|
|
NM_000057.4(BLM):c.411G>T (p.Lys137Asn)
|
|
|
NM_000057.4(BLM):c.4123A>G (p.Ser1375Gly)
|
rs1897526575
|
|
NM_000057.4(BLM):c.4133G>C (p.Gly1378Ala)
|
|
|
NM_000057.4(BLM):c.4141T>C (p.Ser1381Pro)
|
|
|
NM_000057.4(BLM):c.4142C>T (p.Ser1381Leu)
|
rs1277229461
|
|
NM_000057.4(BLM):c.4151A>G (p.His1384Arg)
|
rs199592406
|
|
NM_000057.4(BLM):c.4153A>G (p.Thr1385Ala)
|
rs1382270916
|
|
NM_000057.4(BLM):c.4153A>T (p.Thr1385Ser)
|
|
|
NM_000057.4(BLM):c.4154C>T (p.Thr1385Ile)
|
rs1596276510
|
|
NM_000057.4(BLM):c.4156T>C (p.Ser1386Pro)
|
|
|
NM_000057.4(BLM):c.4161A>C (p.Gln1387His)
|
|
|
NM_000057.4(BLM):c.4162G>C (p.Ala1388Pro)
|
rs1567068979
|
|
NM_000057.4(BLM):c.4172G>C (p.Gly1391Ala)
|
|
|
NM_000057.4(BLM):c.4174G>C (p.Ala1392Pro)
|
|
|
NM_000057.4(BLM):c.4175C>T (p.Ala1392Val)
|
|
|
NM_000057.4(BLM):c.4187T>G (p.Leu1396Trp)
|
|
|
NM_000057.4(BLM):c.4199C>T (p.Ala1400Val)
|
|
|
NM_000057.4(BLM):c.4201C>G (p.Pro1401Ala)
|
|
|
NM_000057.4(BLM):c.4202C>T (p.Pro1401Leu)
|
|
|
NM_000057.4(BLM):c.4207A>T (p.Lys1403Ter)
|
|
|
NM_000057.4(BLM):c.4209G>T (p.Lys1403Asn)
|
|
|
NM_000057.4(BLM):c.4210C>G (p.Pro1404Ala)
|
|
|
NM_000057.4(BLM):c.4210C>T (p.Pro1404Ser)
|
rs1567069054
|
|
NM_000057.4(BLM):c.4211C>T (p.Pro1404Leu)
|
|
|
NM_000057.4(BLM):c.4214T>C (p.Ile1405Thr)
|
rs763323767
|
|
NM_000057.4(BLM):c.4220G>C (p.Arg1407Thr)
|
rs557057587
|
|
NM_000057.4(BLM):c.4222C>A (p.Pro1408Thr)
|
|
|
NM_000057.4(BLM):c.4222C>T (p.Pro1408Ser)
|
|
|
NM_000057.4(BLM):c.4223C>G (p.Pro1408Arg)
|
rs1022266595
|
|
NM_000057.4(BLM):c.4223C>T (p.Pro1408Leu)
|
rs1022266595
|
|
NM_000057.4(BLM):c.4226T>G (p.Phe1409Cys)
|
|
|
NM_000057.4(BLM):c.4228C>T (p.Leu1410Phe)
|
rs1897532582
|
|
NM_000057.4(BLM):c.4231A>T (p.Lys1411Ter)
|
rs2151202445
|
|
NM_000057.4(BLM):c.4232A>T (p.Lys1411Met)
|
rs1897532698
|
|
NM_000057.4(BLM):c.4235C>G (p.Pro1412Arg)
|
|
|
NM_000057.4(BLM):c.4237del (p.Ser1413fs)
|
rs1454179023
|
|
NM_000057.4(BLM):c.4241A>G (p.Tyr1414Cys)
|
|
|
NM_000057.4(BLM):c.4243G>A (p.Ala1415Thr)
|
|
|
NM_000057.4(BLM):c.4247T>G (p.Phe1416Cys)
|
|
|
NM_000057.4(BLM):c.424A>C (p.Ser142Arg)
|
|
|
NM_000057.4(BLM):c.4252T>A (p.Ter1418Lys)
|
rs1555425441
|
|
NM_000057.4(BLM):c.428C>A (p.Ser143Tyr)
|
rs1488217859
|
|
NM_000057.4(BLM):c.431C>T (p.Ser144Leu)
|
rs1596218439
|
|
NM_000057.4(BLM):c.434C>A (p.Pro145Gln)
|
rs1895616094
|
|
NM_000057.4(BLM):c.436G>T (p.Asp146Tyr)
|
|
|
NM_000057.4(BLM):c.437A>G (p.Asp146Gly)
|
|
|
NM_000057.4(BLM):c.440C>A (p.Ser147Tyr)
|
|
|
NM_000057.4(BLM):c.445A>G (p.Ser149Gly)
|
|
|
NM_000057.4(BLM):c.446G>A (p.Ser149Asn)
|
|
|
NM_000057.4(BLM):c.448A>G (p.Thr150Ala)
|
rs1567035400
|
|
NM_000057.4(BLM):c.451A>C (p.Ile151Leu)
|
|
|
NM_000057.4(BLM):c.457G>T (p.Asp153Tyr)
|
|
|
NM_000057.4(BLM):c.460T>C (p.Trp154Arg)
|
rs1226287991
|
|
NM_000057.4(BLM):c.463G>T (p.Asp155Tyr)
|
rs2151147403
|
|
NM_000057.4(BLM):c.466G>T (p.Asp156Tyr)
|
|
|
NM_000057.4(BLM):c.467A>T (p.Asp156Val)
|
|
|
NM_000057.4(BLM):c.46C>T (p.His16Tyr)
|
|
|
NM_000057.4(BLM):c.470T>G (p.Met157Arg)
|
rs773103759
|
|
NM_000057.4(BLM):c.471G>A (p.Met157Ile)
|
|
|
NM_000057.4(BLM):c.473A>G (p.Asp158Gly)
|
|
|
NM_000057.4(BLM):c.479T>C (p.Phe160Ser)
|
|
|
NM_000057.4(BLM):c.481G>A (p.Asp161Asn)
|
|
|
NM_000057.4(BLM):c.481G>C (p.Asp161His)
|
|
|
NM_000057.4(BLM):c.485C>T (p.Thr162Ile)
|
rs1596218602
|
|
NM_000057.4(BLM):c.490G>C (p.Glu164Gln)
|
rs1052258023
|
|
NM_000057.4(BLM):c.494C>G (p.Thr165Ser)
|
|
|
NM_000057.4(BLM):c.494C>T (p.Thr165Ile)
|
|
|
NM_000057.4(BLM):c.497C>T (p.Ser166Leu)
|
rs896357448
|
|
NM_000057.4(BLM):c.4G>T (p.Ala2Ser)
|
rs199769364
|
|
NM_000057.4(BLM):c.506T>A (p.Phe169Tyr)
|
rs1013299710
|
|
NM_000057.4(BLM):c.506T>C (p.Phe169Ser)
|
|
|
NM_000057.4(BLM):c.512C>A (p.Thr171Lys)
|
|
|
NM_000057.4(BLM):c.514C>G (p.Pro172Ala)
|
rs1163233988
|
|
NM_000057.4(BLM):c.517C>A (p.Pro173Thr)
|
rs1458936595
|
|
NM_000057.4(BLM):c.517C>T (p.Pro173Ser)
|
|
|
NM_000057.4(BLM):c.518C>T (p.Pro173Leu)
|
|
|
NM_000057.4(BLM):c.529T>G (p.Phe177Val)
|
|
|
NM_000057.4(BLM):c.531T>A (p.Phe177Leu)
|
|
|
NM_000057.4(BLM):c.538G>A (p.Val180Ile)
|
|
|
NM_000057.4(BLM):c.541A>C (p.Ser181Arg)
|
|
|
NM_000057.4(BLM):c.543C>A (p.Ser181Arg)
|
rs761288442
|
|
NM_000057.4(BLM):c.544A>G (p.Thr182Ala)
|
rs1060500643
|
|
NM_000057.4(BLM):c.545C>T (p.Thr182Ile)
|
rs749838731
|
|
NM_000057.4(BLM):c.548C>T (p.Ala183Val)
|
|
|
NM_000057.4(BLM):c.550C>G (p.Gln184Glu)
|
|
|
NM_000057.4(BLM):c.556T>C (p.Ser186Pro)
|
rs1253019128
|
|
NM_000057.4(BLM):c.559A>C (p.Lys187Gln)
|
|
|
NM_000057.4(BLM):c.559A>G (p.Lys187Glu)
|
rs1895625606
|
|
NM_000057.4(BLM):c.561A>C (p.Lys187Asn)
|
rs2151147608
|
|
NM_000057.4(BLM):c.563A>G (p.Lys188Arg)
|
rs907949967
|
|
NM_000057.4(BLM):c.566G>T (p.Gly189Val)
|
|
|
NM_000057.4(BLM):c.568A>C (p.Lys190Gln)
|
|
|
NM_000057.4(BLM):c.569A>C (p.Lys190Thr)
|
|
|
NM_000057.4(BLM):c.570G>C (p.Lys190Asn)
|
|
|
NM_000057.4(BLM):c.571A>G (p.Arg191Gly)
|
|
|
NM_000057.4(BLM):c.57A>T (p.Arg19Ser)
|
rs1555418008
|
|
NM_000057.4(BLM):c.586G>T (p.Ala196Ser)
|
|
|
NM_000057.4(BLM):c.587C>T (p.Ala196Val)
|
|
|
NM_000057.4(BLM):c.598A>G (p.Thr200Ala)
|
rs1895627174
|
|
NM_000057.4(BLM):c.598A>T (p.Thr200Ser)
|
rs1895627174
|
|
NM_000057.4(BLM):c.59C>T (p.Thr20Ile)
|
|
|
NM_000057.4(BLM):c.5C>A (p.Ala2Asp)
|
|
|
NM_000057.4(BLM):c.602C>T (p.Thr201Ile)
|
|
|
NM_000057.4(BLM):c.604A>G (p.Asn202Asp)
|
rs587779894
|
|
NM_000057.4(BLM):c.605A>T (p.Asn202Ile)
|
rs1596218921
|
|
NM_000057.4(BLM):c.610G>A (p.Val204Ile)
|
|
|
NM_000057.4(BLM):c.610G>T (p.Val204Leu)
|
|
|
NM_000057.4(BLM):c.614A>G (p.Lys205Arg)
|
rs1895628645
|
|
NM_000057.4(BLM):c.615G>C (p.Lys205Asn)
|
rs28903082
|
|
NM_000057.4(BLM):c.617C>A (p.Thr206Asn)
|
|
|
NM_000057.4(BLM):c.61C>G (p.Leu21Val)
|
rs1596215700
|
|
NM_000057.4(BLM):c.620A>T (p.Asp207Val)
|
rs1895629239
|
|
NM_000057.4(BLM):c.623T>G (p.Leu208Trp)
|
rs1555418411
|
|
NM_000057.4(BLM):c.626C>T (p.Pro209Leu)
|
rs1596218994
|
|
NM_000057.4(BLM):c.631C>G (p.Pro211Ala)
|
|
|
NM_000057.4(BLM):c.633CTC[1] (p.Ser213del)
|
rs760096957
|
|
NM_000057.4(BLM):c.64A>G (p.Asn22Asp)
|
rs1370338581
|
|
NM_000057.4(BLM):c.654A>G (p.Ile218Met)
|
|
|
NM_000057.4(BLM):c.655G>C (p.Asp219His)
|
rs190228320
|
|
NM_000057.4(BLM):c.656A>T (p.Asp219Val)
|
|
|
NM_000057.4(BLM):c.658T>G (p.Leu220Val)
|
|
|
NM_000057.4(BLM):c.661A>T (p.Thr221Ser)
|
rs1895631812
|
|
NM_000057.4(BLM):c.662C>G (p.Thr221Ser)
|
|
|
NM_000057.4(BLM):c.673_675del (p.Lys225del)
|
|
|
NM_000057.4(BLM):c.676G>T (p.Asp226Tyr)
|
rs2151147916
|
|
NM_000057.4(BLM):c.682T>C (p.Ser228Pro)
|
|
|
NM_000057.4(BLM):c.686A>G (p.Glu229Gly)
|
|
|
NM_000057.4(BLM):c.687A>C (p.Glu229Asp)
|
|
|
NM_000057.4(BLM):c.695G>A (p.Ser232Asn)
|
|
|
NM_000057.4(BLM):c.697A>G (p.Ser233Gly)
|
|
|
NM_000057.4(BLM):c.701A>G (p.Asp234Gly)
|
|
|
NM_000057.4(BLM):c.703G>A (p.Val235Met)
|
rs765696829
|
|
NM_000057.4(BLM):c.704T>C (p.Val235Ala)
|
|
|
NM_000057.4(BLM):c.710G>T (p.Cys237Phe)
|
|
|
NM_000057.4(BLM):c.713T>C (p.Ile238Thr)
|
rs1895635327
|
|
NM_000057.4(BLM):c.715G>C (p.Asp239His)
|
rs200756519
|
|
NM_000057.4(BLM):c.716A>T (p.Asp239Val)
|
rs751699247
|
|
NM_000057.4(BLM):c.717T>G (p.Asp239Glu)
|
|
|
NM_000057.4(BLM):c.719A>T (p.Asp240Val)
|
rs757324067
|
|
NM_000057.4(BLM):c.722G>C (p.Gly241Ala)
|
|
|
NM_000057.4(BLM):c.728T>C (p.Ile243Thr)
|
rs200000438
|
|
NM_000057.4(BLM):c.733G>A (p.Glu245Lys)
|
rs772711706
|
|
NM_000057.4(BLM):c.740A>G (p.His247Arg)
|
|
|
NM_000057.4(BLM):c.742A>T (p.Ile248Leu)
|
rs558524280
|
|
NM_000057.4(BLM):c.743T>C (p.Ile248Thr)
|
|
|
NM_000057.4(BLM):c.74T>C (p.Leu25Ser)
|
rs1895534883
|
|
NM_000057.4(BLM):c.751G>T (p.Asp251Tyr)
|
|
|
NM_000057.4(BLM):c.752A>T (p.Asp251Val)
|
rs1555418456
|
|
NM_000057.4(BLM):c.753T>A (p.Asp251Glu)
|
|
|
NM_000057.4(BLM):c.753T>G (p.Asp251Glu)
|
|
|
NM_000057.4(BLM):c.754G>C (p.Ala252Pro)
|
|
|
NM_000057.4(BLM):c.757C>G (p.Gln253Glu)
|
|
|
NM_000057.4(BLM):c.75A>C (p.Leu25Phe)
|
|
|
NM_000057.4(BLM):c.760G>A (p.Glu254Lys)
|
|
|
NM_000057.4(BLM):c.761A>G (p.Glu254Gly)
|
|
|
NM_000057.4(BLM):c.764G>A (p.Ser255Asn)
|
|
|
NM_000057.4(BLM):c.769T>C (p.Ser257Pro)
|
|
|
NM_000057.4(BLM):c.772C>A (p.Leu258Met)
|
rs1895639952
|
|
NM_000057.4(BLM):c.778A>T (p.Thr260Ser)
|
|
|
NM_000057.4(BLM):c.77G>A (p.Ser26Asn)
|
|
|
NM_000057.4(BLM):c.789A>C (p.Glu263Asp)
|
|
|
NM_000057.4(BLM):c.794A>G (p.Glu265Gly)
|
rs907073579
|
|
NM_000057.4(BLM):c.799+4_799+5delinsCA
|
rs1895641733
|
|
NM_000057.4(BLM):c.799+5C>A
|
|
|
NM_000057.4(BLM):c.799G>A (p.Asp267Asn)
|
|
|
NM_000057.4(BLM):c.79C>T (p.Leu27Phe)
|
|
|
NM_000057.4(BLM):c.802A>G (p.Asn268Asp)
|
|
|
NM_000057.4(BLM):c.806G>T (p.Ser269Ile)
|
|
|
NM_000057.4(BLM):c.813GAA[1] (p.Lys272_Lys273del)
|
|
|
NM_000057.4(BLM):c.813GAA[2] (p.Lys273del)
|
rs587779895
|
|
NM_000057.4(BLM):c.814A>C (p.Lys272Gln)
|
|
|
NM_000057.4(BLM):c.815A>G (p.Lys272Arg)
|
rs2151149524
|
|
NM_000057.4(BLM):c.819G>T (p.Lys273Asn)
|
rs2151149532
|
|
NM_000057.4(BLM):c.825G>C (p.Leu275Phe)
|
|
|
NM_000057.4(BLM):c.837A>T (p.Glu279Asp)
|
|
|
NM_000057.4(BLM):c.841C>A (p.His281Asn)
|
|
|
NM_000057.4(BLM):c.853A>G (p.Lys285Glu)
|
|
|
NM_000057.4(BLM):c.856G>T (p.Val286Phe)
|
rs758301305
|
|
NM_000057.4(BLM):c.857T>C (p.Val286Ala)
|
|
|
NM_000057.4(BLM):c.857T>G (p.Val286Gly)
|
|
|
NM_000057.4(BLM):c.859C>G (p.Pro287Ala)
|
|
|
NM_000057.4(BLM):c.862T>C (p.Cys288Arg)
|
|
|
NM_000057.4(BLM):c.863G>A (p.Cys288Tyr)
|
|
|
NM_000057.4(BLM):c.863G>C (p.Cys288Ser)
|
rs1260150929
|
|
NM_000057.4(BLM):c.872T>C (p.Phe291Ser)
|
|
|
NM_000057.4(BLM):c.880G>A (p.Asp294Asn)
|
rs1596221148
|
|
NM_000057.4(BLM):c.880G>T (p.Asp294Tyr)
|
|
|
NM_000057.4(BLM):c.883G>T (p.Asp295Tyr)
|
rs146096923
|
|
NM_000057.4(BLM):c.886T>G (p.Tyr296Asp)
|
rs1596221177
|
|
NM_000057.4(BLM):c.887A>T (p.Tyr296Phe)
|
rs775005766
|
|
NM_000057.4(BLM):c.88C>A (p.Pro30Thr)
|
|
|
NM_000057.4(BLM):c.88C>G (p.Pro30Ala)
|
|
|
NM_000057.4(BLM):c.895G>A (p.Asp299Asn)
|
|
|
NM_000057.4(BLM):c.899T>C (p.Phe300Ser)
|
|
|
NM_000057.4(BLM):c.901G>T (p.Val301Phe)
|
|
|
NM_000057.4(BLM):c.904C>T (p.Pro302Ser)
|
|
|
NM_000057.4(BLM):c.905C>T (p.Pro302Leu)
|
rs1895696337
|
|
NM_000057.4(BLM):c.910T>G (p.Ser304Ala)
|
rs2151149729
|
|
NM_000057.4(BLM):c.913C>T (p.Pro305Ser)
|
rs1895696721
|
|
NM_000057.4(BLM):c.919G>A (p.Glu307Lys)
|
|
|
NM_000057.4(BLM):c.922A>G (p.Ile308Val)
|
rs1596221274
|
|
NM_000057.4(BLM):c.922ATT[1] (p.Ile309del)
|
|
|
NM_000057.4(BLM):c.925A>C (p.Ile309Leu)
|
|
|
NM_000057.4(BLM):c.925A>G (p.Ile309Val)
|
|
|
NM_000057.4(BLM):c.929C>T (p.Ser310Phe)
|
|
|
NM_000057.4(BLM):c.933TTC[2] (p.Ser316del)
|
rs564966225
|
|
NM_000057.4(BLM):c.934T>C (p.Ser312Pro)
|
|
|
NM_000057.4(BLM):c.950A>G (p.Lys317Arg)
|
|
|
NM_000057.4(BLM):c.953G>A (p.Cys318Tyr)
|
|
|
NM_000057.4(BLM):c.954C>G (p.Cys318Trp)
|
rs1596221322
|
|
NM_000057.4(BLM):c.955C>T (p.Leu319Phe)
|
rs1567036793
|
|
NM_000057.4(BLM):c.956T>C (p.Leu319Pro)
|
|
|
NM_000057.4(BLM):c.959G>C (p.Ser320Thr)
|
rs757112333
|
|
NM_000057.4(BLM):c.959G>T (p.Ser320Ile)
|
|
|
NM_000057.4(BLM):c.95T>A (p.Phe32Tyr)
|
|
|
NM_000057.4(BLM):c.960-3C>T
|
rs878962653
|
|
NM_000057.4(BLM):c.973C>A (p.Leu325Ile)
|
|
|
NM_000057.4(BLM):c.976G>A (p.Asp326Asn)
|
rs1013220474
|
|
NM_000057.4(BLM):c.978C>A (p.Asp326Glu)
|
|
|
NM_000057.4(BLM):c.98+2dup
|
rs1555418016
|
|
NM_000057.4(BLM):c.98+3_98+6del
|
rs1555418015
|
|
NM_000057.4(BLM):c.982T>G (p.Ser328Ala)
|
rs2151152087
|
|
NM_000057.4(BLM):c.985G>C (p.Asp329His)
|
rs1895774818
|
|
NM_000057.4(BLM):c.99-9A>T
|
rs1419730289
|
|
NM_000057.4(BLM):c.994G>C (p.Glu332Gln)
|
rs1596223780
|
|
NM_000057.4(BLM):c.995A>C (p.Glu332Ala)
|
|
|
NM_000057.4(BLM):c.997G>T (p.Asp333Tyr)
|
rs1567037944
|
|