NM_000057.4(BLM):c.2160C>T (p.Ile720=)
|
rs28385028
|
0.00303
|
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)
|
rs146077918
|
0.00172
|
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu)
|
rs142551229
|
0.00140
|
NM_000057.4(BLM):c.3849G>A (p.Gln1283=)
|
rs140524886
|
0.00115
|
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.1601A>G (p.Asn534Ser)
|
rs35224686
|
0.00092
|
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile)
|
rs149754073
|
0.00086
|
NM_000057.4(BLM):c.2919C>T (p.Tyr973=)
|
rs181161119
|
0.00066
|
NM_000057.4(BLM):c.968A>G (p.Lys323Arg)
|
rs146504061
|
0.00056
|
NM_000057.4(BLM):c.3798T>G (p.Val1266=)
|
rs138831180
|
0.00043
|
NM_000057.4(BLM):c.3813G>A (p.Leu1271=)
|
rs376082823
|
0.00039
|
NM_000057.4(BLM):c.1467G>A (p.Arg489=)
|
rs56257041
|
0.00034
|
NM_000057.4(BLM):c.3041A>G (p.His1014Arg)
|
rs145022945
|
0.00032
|
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr)
|
rs1801256
|
0.00031
|
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.2838A>G (p.Thr946=)
|
rs200850440
|
0.00025
|
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.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.2333C>G (p.Ser778Cys)
|
rs139610577
|
0.00012
|
NM_000057.4(BLM):c.1086C>T (p.Asp362=)
|
rs375632163
|
0.00011
|
NM_000057.4(BLM):c.1097T>C (p.Ile366Thr)
|
rs571152089
|
0.00011
|
NM_000057.4(BLM):c.1315A>G (p.Met439Val)
|
rs201231857
|
0.00011
|
NM_000057.4(BLM):c.2638G>C (p.Glu880Gln)
|
rs201770808
|
0.00011
|
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.2720C>T (p.Thr907Met)
|
rs367953471
|
0.00007
|
NM_000057.4(BLM):c.3358G>A (p.Gly1120Arg)
|
rs139773499
|
0.00007
|
NM_000057.4(BLM):c.3751+9A>C
|
rs774368488
|
0.00007
|
NM_000057.4(BLM):c.1044G>A (p.Met348Ile)
|
rs184657475
|
0.00006
|
NM_000057.4(BLM):c.1838C>T (p.Thr613Ile)
|
rs550417200
|
0.00006
|
NM_000057.4(BLM):c.2237C>T (p.Ala746Val)
|
rs769498533
|
0.00006
|
NM_000057.4(BLM):c.2475G>A (p.Pro825=)
|
rs147587050
|
0.00006
|
NM_000057.4(BLM):c.2619G>C (p.Lys873Asn)
|
rs146723808
|
0.00006
|
NM_000057.4(BLM):c.3934G>A (p.Ala1312Thr)
|
rs527291754
|
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.808G>A (p.Glu270Lys)
|
rs762053925
|
0.00006
|
NM_000057.4(BLM):c.1261G>A (p.Ala421Thr)
|
rs587779879
|
0.00005
|
NM_000057.4(BLM):c.3229G>A (p.Val1077Met)
|
rs779096973
|
0.00005
|
NM_000057.4(BLM):c.368A>G (p.Gln123Arg)
|
rs371223446
|
0.00005
|
NM_000057.4(BLM):c.934T>G (p.Ser312Ala)
|
rs372454889
|
0.00005
|
NM_000057.4(BLM):c.2432A>G (p.Tyr811Cys)
|
rs145029382
|
0.00004
|
NM_000057.4(BLM):c.2515A>G (p.Lys839Glu)
|
rs201427280
|
0.00004
|
NM_000057.4(BLM):c.2950G>A (p.Gly984Arg)
|
rs755784410
|
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.722G>A (p.Gly241Asp)
|
rs200897029
|
0.00004
|
NM_000057.4(BLM):c.98C>T (p.Ser33Leu)
|
rs139282091
|
0.00004
|
NM_000057.4(BLM):c.3922G>A (p.Gly1308Arg)
|
rs768010078
|
0.00003
|
NM_000057.4(BLM):c.403G>T (p.Ala135Ser)
|
rs373832397
|
0.00003
|
NM_000057.4(BLM):c.4112C>T (p.Thr1371Met)
|
rs587779891
|
0.00003
|
NM_000057.4(BLM):c.820A>G (p.Asn274Asp)
|
rs750551907
|
0.00003
|
NM_000057.4(BLM):c.1148T>C (p.Ile383Thr)
|
rs556577644
|
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.2552A>G (p.Gln851Arg)
|
rs1454270314
|
0.00002
|
NM_000057.4(BLM):c.3019+11C>A
|
rs776916080
|
0.00002
|
NM_000057.4(BLM):c.3019+7T>C
|
rs761087545
|
0.00002
|
NM_000057.4(BLM):c.3237C>T (p.Asp1079=)
|
rs148237075
|
0.00002
|
NM_000057.4(BLM):c.3751G>C (p.Glu1251Gln)
|
rs587779888
|
0.00002
|
NM_000057.4(BLM):c.3949G>A (p.Glu1317Lys)
|
rs730880251
|
0.00002
|
NM_000057.4(BLM):c.395G>A (p.Arg132Gln)
|
rs775197136
|
0.00002
|
NM_000057.4(BLM):c.488C>T (p.Ser163Phe)
|
rs745819553
|
0.00002
|
NM_000057.4(BLM):c.1032A>T (p.Lys344Asn)
|
rs148701303
|
0.00001
|
NM_000057.4(BLM):c.1210C>T (p.Arg404Trp)
|
rs770721765
|
0.00001
|
NM_000057.4(BLM):c.1348A>G (p.Met450Val)
|
rs200385935
|
0.00001
|
NM_000057.4(BLM):c.1433G>C (p.Gly478Ala)
|
rs759810567
|
0.00001
|
NM_000057.4(BLM):c.1496C>T (p.Ser499Phe)
|
rs778700833
|
0.00001
|
NM_000057.4(BLM):c.1612G>C (p.Ala538Pro)
|
rs1318049766
|
0.00001
|
NM_000057.4(BLM):c.2051A>C (p.Asp684Ala)
|
rs1262628899
|
0.00001
|
NM_000057.4(BLM):c.2271C>G (p.Asp757Glu)
|
rs773761682
|
0.00001
|
NM_000057.4(BLM):c.2422C>T (p.Arg808Cys)
|
rs759330541
|
0.00001
|
NM_000057.4(BLM):c.2474C>T (p.Pro825Leu)
|
rs749632465
|
0.00001
|
NM_000057.4(BLM):c.2561G>A (p.Ser854Asn)
|
rs758692622
|
0.00001
|
NM_000057.4(BLM):c.261G>A (p.Lys87=)
|
rs372668612
|
0.00001
|
NM_000057.4(BLM):c.264C>A (p.Asp88Glu)
|
rs757984551
|
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.2674A>G (p.Ile892Val)
|
rs764587569
|
0.00001
|
NM_000057.4(BLM):c.2806A>G (p.Asn936Asp)
|
rs1422513540
|
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.3076A>G (p.Met1026Val)
|
rs766225961
|
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.329A>G (p.Asp110Gly)
|
rs1292239409
|
0.00001
|
NM_000057.4(BLM):c.344C>T (p.Pro115Leu)
|
rs371100621
|
0.00001
|
NM_000057.4(BLM):c.3505G>A (p.Ala1169Thr)
|
rs777492549
|
0.00001
|
NM_000057.4(BLM):c.3637G>A (p.Glu1213Lys)
|
rs28385142
|
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.3869C>T (p.Ser1290Leu)
|
rs1031421025
|
0.00001
|
NM_000057.4(BLM):c.3892G>A (p.Gly1298Arg)
|
rs587779889
|
0.00001
|
NM_000057.4(BLM):c.394C>T (p.Arg132Trp)
|
rs765089689
|
0.00001
|
NM_000057.4(BLM):c.3970C>T (p.His1324Tyr)
|
rs748943489
|
0.00001
|
NM_000057.4(BLM):c.4177A>G (p.Asn1393Asp)
|
rs548600410
|
0.00001
|
NM_000057.4(BLM):c.4205C>T (p.Pro1402Leu)
|
rs770313956
|
0.00001
|
NM_000057.4(BLM):c.44G>A (p.Arg15His)
|
rs752755503
|
0.00001
|
NM_000057.4(BLM):c.696C>A (p.Ser232Arg)
|
rs201845548
|
0.00001
|
GRCh37/hg19 15q26.1(chr15:91217953-91398682)x1
|
|
|
GRCh37/hg19 15q26.1(chr15:91243790-91403844)x1
|
|
|
NM_000057.4(BLM):c.*5C>T
|
|
|
NM_000057.4(BLM):c.*6G>A
|
rs375331228
|
|
NM_000057.4(BLM):c.*6G>T
|
|
|
NM_000057.4(BLM):c.1003C>G (p.Leu335Val)
|
rs1265514490
|
|
NM_000057.4(BLM):c.1025T>C (p.Leu342Ser)
|
rs1596223853
|
|
NM_000057.4(BLM):c.1088-3T>G
|
|
|
NM_000057.4(BLM):c.1123G>C (p.Val375Leu)
|
rs1596228852
|
|
NM_000057.4(BLM):c.1195G>A (p.Glu399Lys)
|
rs538728271
|
|
NM_000057.4(BLM):c.1195G>C (p.Glu399Gln)
|
rs538728271
|
|
NM_000057.4(BLM):c.1267CTT[1] (p.Leu424del)
|
rs777886082
|
|
NM_000057.4(BLM):c.1364T>G (p.Phe455Cys)
|
|
|
NM_000057.4(BLM):c.1455T>G (p.Asn485Lys)
|
rs2151158261
|
|
NM_000057.4(BLM):c.1490A>C (p.Gln497Pro)
|
rs368547042
|
|
NM_000057.4(BLM):c.154G>A (p.Val52Met)
|
rs2151146745
|
|
NM_000057.4(BLM):c.1559T>C (p.Phe520Ser)
|
rs1410283592
|
|
NM_000057.4(BLM):c.1583C>T (p.Thr528Ile)
|
rs1596230185
|
|
NM_000057.4(BLM):c.1631A>G (p.Glu544Gly)
|
rs1567041307
|
|
NM_000057.4(BLM):c.1817A>T (p.Asp606Val)
|
|
|
NM_000057.4(BLM):c.1868T>C (p.Ile623Thr)
|
rs1567041556
|
|
NM_000057.4(BLM):c.191A>C (p.Asp64Ala)
|
rs140382474
|
|
NM_000057.4(BLM):c.1934A>G (p.Gln645Arg)
|
rs377563699
|
|
NM_000057.4(BLM):c.1992C>T (p.Gly664=)
|
rs886043359
|
|
NM_000057.4(BLM):c.2039T>C (p.Leu680Pro)
|
|
|
NM_000057.4(BLM):c.2069C>T (p.Pro690Leu)
|
rs761589072
|
|
NM_000057.4(BLM):c.2074+5G>A
|
rs587779880
|
|
NM_000057.4(BLM):c.2141C>G (p.Ser714Cys)
|
|
|
NM_000057.4(BLM):c.2155C>T (p.Leu719Phe)
|
rs587779881
|
|
NM_000057.4(BLM):c.2307+5G>A
|
rs1596236061
|
|
NM_000057.4(BLM):c.2326C>G (p.Leu776Val)
|
rs1483824560
|
|
NM_000057.4(BLM):c.2393A>C (p.His798Pro)
|
|
|
NM_000057.4(BLM):c.2448G>A (p.Met816Ile)
|
|
|
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.2503C>T (p.Pro835Ser)
|
rs2151166278
|
|
NM_000057.4(BLM):c.2537A>C (p.Lys846Thr)
|
rs2151166394
|
|
NM_000057.4(BLM):c.2540T>G (p.Ile847Ser)
|
rs756664681
|
|
NM_000057.4(BLM):c.2624C>A (p.Ala875Glu)
|
rs1596250413
|
|
NM_000057.4(BLM):c.2683T>G (p.Cys895Gly)
|
rs587779883
|
|
NM_000057.4(BLM):c.2716G>A (p.Asp906Asn)
|
rs2151179756
|
|
NM_000057.4(BLM):c.2732A>T (p.Asp911Val)
|
rs1596252149
|
|
NM_000057.4(BLM):c.2743G>C (p.Ala915Pro)
|
|
|
NM_000057.4(BLM):c.2887C>T (p.His963Tyr)
|
rs367543023
|
|
NM_000057.4(BLM):c.3013A>G (p.Ile1005Val)
|
rs201829983
|
|
NM_000057.4(BLM):c.3029A>T (p.Asp1010Val)
|
rs1459742200
|
|
NM_000057.4(BLM):c.3062A>T (p.Asn1021Ile)
|
rs369629509
|
|
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr)
|
rs367543029
|
|
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.3221C>G (p.Thr1074Arg)
|
rs144021705
|
|
NM_000057.4(BLM):c.3238G>A (p.Asp1080Asn)
|
rs771767745
|
|
NM_000057.4(BLM):c.3239A>T (p.Asp1080Val)
|
rs775383361
|
|
NM_000057.4(BLM):c.3253G>T (p.Val1085Leu)
|
rs761235042
|
|
NM_000057.4(BLM):c.3313C>T (p.Pro1105Ser)
|
|
|
NM_000057.4(BLM):c.335T>C (p.Leu112Ser)
|
rs1038386076
|
|
NM_000057.4(BLM):c.3362G>T (p.Ser1121Ile)
|
rs758753168
|
|
NM_000057.4(BLM):c.3418C>T (p.His1140Tyr)
|
rs746602812
|
|
NM_000057.4(BLM):c.3651A>T (p.Lys1217Asn)
|
rs587779887
|
|
NM_000057.4(BLM):c.3875C>A (p.Ala1292Asp)
|
rs1567066745
|
|
NM_000057.4(BLM):c.387_389del (p.Lys130del)
|
rs587778105
|
|
NM_000057.4(BLM):c.3967T>C (p.Ser1323Pro)
|
|
|
NM_000057.4(BLM):c.4068G>C (p.Lys1356Asn)
|
rs587779890
|
|
NM_000057.4(BLM):c.4124G>A (p.Ser1375Asn)
|
rs139115275
|
|
NM_000057.4(BLM):c.4201C>T (p.Pro1401Ser)
|
|
|
NM_000057.4(BLM):c.515C>T (p.Pro172Leu)
|
|
|
NM_000057.4(BLM):c.604A>G (p.Asn202Asp)
|
rs587779894
|
|
NM_000057.4(BLM):c.714C>G (p.Ile238Met)
|
|
|
NM_000057.4(BLM):c.800-4G>A
|
rs1338362749
|
|
NM_000057.4(BLM):c.813GAA[2] (p.Lys273del)
|
rs587779895
|
|
NM_000057.4(BLM):c.842A>G (p.His281Arg)
|
rs202042636
|
|
NM_000057.4(BLM):c.865A>T (p.Ile289Phe)
|
rs1895693953
|
|
NM_000057.4(BLM):c.878A>G (p.Asp293Gly)
|
|
|
NM_000057.4(BLM):c.887A>G (p.Tyr296Cys)
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rs775005766
|
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NM_000057.4(BLM):c.913C>T (p.Pro305Ser)
|
rs1895696721
|
|
NM_000057.4(BLM):c.959G>C (p.Ser320Thr)
|
rs757112333
|
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