ClinVar Miner

List of variants in gene BLM reported as uncertain significance for Hereditary cancer-predisposing syndrome

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Gene type:
ClinVar version:
Total variants: 331
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HGVS dbSNP
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.1027T>G (p.Ser343Ala) rs776620199
NM_000057.4(BLM):c.1044G>A (p.Met348Ile) rs184657475
NM_000057.4(BLM):c.1064C>G (p.Pro355Arg) rs1022898915
NM_000057.4(BLM):c.1087G>A (p.Ala363Thr) rs200364297
NM_000057.4(BLM):c.1097T>C (p.Ile366Thr) rs571152089
NM_000057.4(BLM):c.1123G>C (p.Val375Leu) rs1596228852
NM_000057.4(BLM):c.1148T>C (p.Ile383Thr) rs556577644
NM_000057.4(BLM):c.1156A>G (p.Ile386Val) rs757636363
NM_000057.4(BLM):c.1169A>C (p.Lys390Thr) rs1596228946
NM_000057.4(BLM):c.1190G>A (p.Gly397Glu) rs1596228978
NM_000057.4(BLM):c.1195G>A (p.Glu399Lys) rs538728271
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057
NM_000057.4(BLM):c.1209G>C (p.Gln403His) rs1555419741
NM_000057.4(BLM):c.1211G>A (p.Arg404Gln) rs776516663
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.1235C>T (p.Thr412Met) rs775209685
NM_000057.4(BLM):c.1238A>T (p.Glu413Val) rs1215111361
NM_000057.4(BLM):c.124T>C (p.Ser42Pro) rs1291378382
NM_000057.4(BLM):c.1259A>G (p.Asp420Gly) rs773952896
NM_000057.4(BLM):c.1261G>A (p.Ala421Thr) rs587779879
NM_000057.4(BLM):c.1267_1269CTT[1] (p.Leu424del) rs777886082
NM_000057.4(BLM):c.1277C>T (p.Ser426Leu) rs768127491
NM_000057.4(BLM):c.1297G>C (p.Asp433His) rs1596229549
NM_000057.4(BLM):c.129_130insTAT (p.Asp44_Asn45insTyr) rs778786003
NM_000057.4(BLM):c.1319A>G (p.Glu440Gly) rs1567040910
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.1387G>A (p.Val463Ile) rs1028963834
NM_000057.4(BLM):c.1396G>A (p.Gly466Arg) rs747760482
NM_000057.4(BLM):c.1412C>T (p.Thr471Ile) rs1281556342
NM_000057.4(BLM):c.1433G>C (p.Gly478Ala) rs759810567
NM_000057.4(BLM):c.1438T>C (p.Ser480Pro) rs1555419877
NM_000057.4(BLM):c.1474T>C (p.Phe492Leu) rs764182382
NM_000057.4(BLM):c.1490A>C (p.Gln497Pro) rs368547042
NM_000057.4(BLM):c.1490A>G (p.Gln497Arg) rs368547042
NM_000057.4(BLM):c.1496C>T (p.Ser499Phe) rs778700833
NM_000057.4(BLM):c.1501G>A (p.Val501Ile) rs1596230032
NM_000057.4(BLM):c.1502T>A (p.Val501Glu) rs1247170438
NM_000057.4(BLM):c.1544A>C (p.Asn515Thr) rs765536045
NM_000057.4(BLM):c.1552T>C (p.Ser518Pro) rs1596230139
NM_000057.4(BLM):c.1556A>G (p.Tyr519Cys) rs1567041220
NM_000057.4(BLM):c.1561C>T (p.Pro521Ser) rs1451973495
NM_000057.4(BLM):c.1583C>T (p.Thr528Ile) rs1596230185
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.1633A>G (p.Arg545Gly) rs1596230280
NM_000057.4(BLM):c.1676A>T (p.Asp559Val) rs1596230337
NM_000057.4(BLM):c.1683_1685TGA[6] (p.Asp566dup) rs768095141
NM_000057.4(BLM):c.1709T>C (p.Ile570Thr) rs1567041376
NM_000057.4(BLM):c.172C>A (p.Pro58Thr) rs1596217837
NM_000057.4(BLM):c.1741A>G (p.Thr581Ala) rs587778108
NM_000057.4(BLM):c.1747G>T (p.Ala583Ser) rs1043484811
NM_000057.4(BLM):c.1751A>G (p.Tyr584Cys) rs765187809
NM_000057.4(BLM):c.1786G>A (p.Val596Ile) rs1596230556
NM_000057.4(BLM):c.178T>A (p.Leu60Ile) rs138542210
NM_000057.4(BLM):c.1825C>A (p.Pro609Thr) rs770255643
NM_000057.4(BLM):c.1838C>T (p.Thr613Ile) rs550417200
NM_000057.4(BLM):c.1856_1858del (p.Phe619del) rs1555419996
NM_000057.4(BLM):c.1864T>C (p.Ser622Pro) rs1033751385
NM_000057.4(BLM):c.186T>G (p.Asn62Lys) rs146735953
NM_000057.4(BLM):c.1877A>T (p.Tyr626Phe) rs374569385
NM_000057.4(BLM):c.1907C>G (p.Ser636Cys) rs1596232081
NM_000057.4(BLM):c.191A>T (p.Asp64Val) rs140382474
NM_000057.4(BLM):c.1924G>A (p.Glu642Lys) rs201458487
NM_000057.4(BLM):c.1927C>T (p.Arg643Cys) rs373090621
NM_000057.4(BLM):c.1931T>A (p.Phe644Tyr) rs371023654
NM_000057.4(BLM):c.1934A>G (p.Gln645Arg) rs377563699
NM_000057.4(BLM):c.1936A>G (p.Ser646Gly) rs370293537
NM_000057.4(BLM):c.1964T>C (p.Met655Thr) rs748567176
NM_000057.4(BLM):c.1969A>G (p.Lys657Glu) rs758782238
NM_000057.4(BLM):c.200T>A (p.Val67Asp) rs1555418261
NM_000057.4(BLM):c.2045G>A (p.Gly682Asp) rs1342307269
NM_000057.4(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000057.4(BLM):c.208G>A (p.Asp70Asn) rs769957028
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.214T>G (p.Ser72Ala) rs146521411
NM_000057.4(BLM):c.2161G>A (p.Val721Ile) rs559554788
NM_000057.4(BLM):c.2171T>C (p.Val724Ala) rs750687788
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.2211G>C (p.Leu737=) rs933356579
NM_000057.4(BLM):c.2233G>A (p.Glu745Lys) rs1596235872
NM_000057.4(BLM):c.2237C>T (p.Ala746Val) rs769498533
NM_000057.4(BLM):c.226C>A (p.Pro76Thr) rs768843912
NM_000057.4(BLM):c.226C>T (p.Pro76Ser) rs768843912
NM_000057.4(BLM):c.2271C>G (p.Asp757Glu) rs773761682
NM_000057.4(BLM):c.2276T>A (p.Ile759Asn) rs1056077835
NM_000057.4(BLM):c.2281A>G (p.Lys761Glu) rs1555420599
NM_000057.4(BLM):c.2293G>A (p.Val765Ile) rs191789336
NM_000057.4(BLM):c.2302G>A (p.Glu768Lys) rs1060500640
NM_000057.4(BLM):c.2308-4C>G rs1596238148
NM_000057.4(BLM):c.2308-5C>T rs957805754
NM_000057.4(BLM):c.2315C>T (p.Ala772Val) rs765478171
NM_000057.4(BLM):c.2329A>G (p.Ile777Val) rs764097842
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys) rs139610577
NM_000057.4(BLM):c.2340G>A (p.Leu780=) rs756031754
NM_000057.4(BLM):c.2350T>A (p.Tyr784Asn) rs779746222
NM_000057.4(BLM):c.2357G>A (p.Arg786Lys) rs369065966
NM_000057.4(BLM):c.2360A>G (p.Lys787Arg) rs778695045
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile) rs149754073
NM_000057.4(BLM):c.2367G>C (p.Leu789Phe) rs1060500651
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys) rs55880859
NM_000057.4(BLM):c.2372G>A (p.Arg791His) rs1322472868
NM_000057.4(BLM):c.241A>G (p.Thr81Ala) rs1060500637
NM_000057.4(BLM):c.2422C>T (p.Arg808Cys) rs759330541
NM_000057.4(BLM):c.2434A>C (p.Lys812Gln) rs763827222
NM_000057.4(BLM):c.2434A>G (p.Lys812Glu) rs763827222
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>A (p.Arg818His) rs780514723
NM_000057.4(BLM):c.2474C>T (p.Pro825Leu) rs749632465
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.2515A>G (p.Lys839Glu) rs201427280
NM_000057.4(BLM):c.2518G>A (p.Asp840Asn) rs1238410843
NM_000057.4(BLM):c.2524C>A (p.Leu842Met) rs1209722688
NM_000057.4(BLM):c.2540T>G (p.Ile847Ser) rs756664681
NM_000057.4(BLM):c.2551C>G (p.Gln851Glu) rs767638712
NM_000057.4(BLM):c.2561G>A (p.Ser854Asn) rs758692622
NM_000057.4(BLM):c.2594A>G (p.Tyr865Cys) rs777842626
NM_000057.4(BLM):c.25C>G (p.Leu9Val) rs1596215640
NM_000057.4(BLM):c.2619G>C (p.Lys873Asn) rs146723808
NM_000057.4(BLM):c.2624C>A (p.Ala875Glu) rs1596250413
NM_000057.4(BLM):c.2638G>C (p.Glu880Gln) rs201770808
NM_000057.4(BLM):c.264C>A (p.Asp88Glu) rs757984551
NM_000057.4(BLM):c.264_266CTT[1] (p.Phe90del) rs1555418301
NM_000057.4(BLM):c.2674A>G (p.Ile892Val) rs764587569
NM_000057.4(BLM):c.2683T>G (p.Cys895Gly) rs587779883
NM_000057.4(BLM):c.2686C>T (p.Leu896Phe) rs151309611
NM_000057.4(BLM):c.2696G>A (p.Arg899Gln) rs748054605
NM_000057.4(BLM):c.2713G>A (p.Ala905Thr) rs1596252085
NM_000057.4(BLM):c.2717A>T (p.Asp906Val) rs996189487
NM_000057.4(BLM):c.2720C>T (p.Thr907Met) rs367953471
NM_000057.4(BLM):c.2732A>G (p.Asp911Gly) rs1596252149
NM_000057.4(BLM):c.2732A>T (p.Asp911Val) rs1596252149
NM_000057.4(BLM):c.2740G>A (p.Ala914Thr) rs372013507
NM_000057.4(BLM):c.2744C>T (p.Ala915Val) rs775026151
NM_000057.4(BLM):c.274A>G (p.Asn92Asp) rs200690226
NM_000057.4(BLM):c.2784T>G (p.Asp928Glu) rs1032746564
NM_000057.4(BLM):c.2787A>C (p.Glu929Asp) rs764679551
NM_000057.4(BLM):c.2795A>G (p.Gln932Arg) rs1427273201
NM_000057.4(BLM):c.2803A>G (p.Ile935Val) rs774916971
NM_000057.4(BLM):c.2806A>G (p.Asn936Asp) rs1422513540
NM_000057.4(BLM):c.2822A>G (p.Gln941Arg) rs762267785
NM_000057.4(BLM):c.2823+4A>G rs1168674610
NM_000057.4(BLM):c.2829C>G (p.Ile943Met) rs1596257034
NM_000057.4(BLM):c.2839A>G (p.Ile947Val) rs189925962
NM_000057.4(BLM):c.2840T>C (p.Ile947Thr) rs1024172175
NM_000057.4(BLM):c.2858T>C (p.Ile953Thr) rs587778102
NM_000057.4(BLM):c.2867C>T (p.Pro956Leu) rs962069708
NM_000057.4(BLM):c.2872G>A (p.Val958Met) rs775006576
NM_000057.4(BLM):c.2915G>T (p.Gly972Val) rs150475674
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.2945G>A (p.Arg982Lys) rs1281589498
NM_000057.4(BLM):c.2975T>C (p.Phe992Ser) rs371418699
NM_000057.4(BLM):c.2984A>G (p.Tyr995Cys) rs779755994
NM_000057.4(BLM):c.2999G>C (p.Arg1000Thr) rs1596257309
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.3014T>C (p.Ile1005Thr) rs772671554
NM_000057.4(BLM):c.3020-4_3020-3del rs1596259793
NM_000057.4(BLM):c.3029A>T (p.Asp1010Val) rs1459742200
NM_000057.4(BLM):c.302G>C (p.Arg101Thr) rs781707344
NM_000057.4(BLM):c.3031G>A (p.Gly1011Arg) rs370073229
NM_000057.4(BLM):c.3044C>T (p.Thr1015Ile) rs202196488
NM_000057.4(BLM):c.304G>A (p.Gly102Ser) rs1215126785
NM_000057.4(BLM):c.3056A>C (p.His1019Pro) rs769982824
NM_000057.4(BLM):c.3061A>G (p.Asn1021Asp) rs374105075
NM_000057.4(BLM):c.3062A>G (p.Asn1021Ser) rs369629509
NM_000057.4(BLM):c.3071A>G (p.Tyr1024Cys) rs201676342
NM_000057.4(BLM):c.3079G>A (p.Val1027Ile) rs1300299815
NM_000057.4(BLM):c.3094A>T (p.Asn1032Tyr) rs1311585637
NM_000057.4(BLM):c.3101C>T (p.Thr1034Met) rs753652339
NM_000057.4(BLM):c.3104A>G (p.Glu1035Gly) rs1288025724
NM_000057.4(BLM):c.3131A>G (p.Tyr1044Cys) rs747571272
NM_000057.4(BLM):c.3137G>T (p.Gly1046Val) rs1596260021
NM_000057.4(BLM):c.3153T>A (p.Asn1051Lys) rs1262516507
NM_000057.4(BLM):c.3191A>G (p.Asp1064Gly) rs367543032
NM_000057.4(BLM):c.3210+2dup rs755232267
NM_000057.4(BLM):c.3210+4A>G rs776621429
NM_000057.4(BLM):c.3211G>T (p.Asp1071Tyr) rs794727180
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.3236A>G (p.Asp1079Gly) rs776714693
NM_000057.4(BLM):c.3238G>A (p.Asp1080Asn) rs771767745
NM_000057.4(BLM):c.3262G>C (p.Val1088Leu) rs934966838
NM_000057.4(BLM):c.329A>G (p.Asp110Gly) rs1292239409
NM_000057.4(BLM):c.3308T>C (p.Val1103Ala) rs1481919924
NM_000057.4(BLM):c.3310G>A (p.Gly1104Ser) rs141269464
NM_000057.4(BLM):c.3311G>A (p.Gly1104Asp) rs150784889
NM_000057.4(BLM):c.3341T>C (p.Leu1114Pro) rs1444338168
NM_000057.4(BLM):c.3358G>A (p.Gly1120Arg) rs139773499
NM_000057.4(BLM):c.3358G>C (p.Gly1120Arg) rs139773499
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.3386G>C (p.Gly1129Ala) rs375841213
NM_000057.4(BLM):c.3416G>A (p.Arg1139Gln) rs771776126
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.3422A>G (p.Asn1141Ser) rs770370129
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys) rs140387675
NM_000057.4(BLM):c.343C>T (p.Pro115Ser) rs1173491187
NM_000057.4(BLM):c.3449T>C (p.Ile1150Thr) rs1378138456
NM_000057.4(BLM):c.344C>T (p.Pro115Leu) rs371100621
NM_000057.4(BLM):c.3497A>T (p.Gln1166Leu) rs371774802
NM_000057.4(BLM):c.3505G>A (p.Ala1169Thr) rs777492549
NM_000057.4(BLM):c.3509A>G (p.Tyr1170Cys) rs746692894
NM_000057.4(BLM):c.3517C>T (p.Leu1173Phe) rs1596267698
NM_000057.4(BLM):c.3536C>T (p.Thr1179Ile) rs1555424324
NM_000057.4(BLM):c.3538G>A (p.Val1180Ile) rs1324479116
NM_000057.4(BLM):c.3551A>G (p.Asn1184Ser) rs1596267777
NM_000057.4(BLM):c.3556A>G (p.Lys1186Glu) rs750532596
NM_000057.4(BLM):c.3563A>T (p.Asp1188Val) rs899745787
NM_000057.4(BLM):c.3569T>C (p.Met1190Thr) rs1555424373
NM_000057.4(BLM):c.3607G>A (p.Ala1203Thr) rs1335563585
NM_000057.4(BLM):c.3608C>T (p.Ala1203Val) rs757088548
NM_000057.4(BLM):c.3647A>C (p.Lys1216Thr) rs748798772
NM_000057.4(BLM):c.3668C>A (p.Thr1223Lys) rs772506214
NM_000057.4(BLM):c.368A>G (p.Gln123Arg) rs371223446
NM_000057.4(BLM):c.3728C>T (p.Thr1243Ile) rs972145772
NM_000057.4(BLM):c.3730G>A (p.Val1244Ile) rs1249106324
NM_000057.4(BLM):c.3731T>G (p.Val1244Gly) rs771117920
NM_000057.4(BLM):c.3743A>G (p.Lys1248Arg) rs1555424404
NM_000057.4(BLM):c.3751G>C (p.Glu1251Gln) rs587779888
NM_000057.4(BLM):c.376C>T (p.Pro126Ser) rs587778106
NM_000057.4(BLM):c.3770C>T (p.Pro1257Leu) rs372134818
NM_000057.4(BLM):c.377C>T (p.Pro126Leu) rs1060500650
NM_000057.4(BLM):c.3827C>T (p.Ala1276Val) rs760554566
NM_000057.4(BLM):c.3872C>T (p.Pro1291Leu) rs373003917
NM_000057.4(BLM):c.3874G>A (p.Ala1292Thr) rs757641454
NM_000057.4(BLM):c.3879A>G (p.Glu1293=) rs28377085
NM_000057.4(BLM):c.387_389del (p.Lys130del) rs587778105
NM_000057.4(BLM):c.3880G>T (p.Asp1294Tyr) rs560132774
NM_000057.4(BLM):c.3922G>C (p.Gly1308Arg) rs768010078
NM_000057.4(BLM):c.3923G>A (p.Gly1308Glu) rs750865930
NM_000057.4(BLM):c.3943C>T (p.Leu1315Phe) rs959925706
NM_000057.4(BLM):c.3946G>A (p.Asp1316Asn) rs779179608
NM_000057.4(BLM):c.3949G>A (p.Glu1317Lys) rs730880251
NM_000057.4(BLM):c.394C>T (p.Arg132Trp) rs765089689
NM_000057.4(BLM):c.3961G>C (p.Val1321Leu) rs7167216
NM_000057.4(BLM):c.3970C>T (p.His1324Tyr) rs748943489
NM_000057.4(BLM):c.3985A>G (p.Lys1329Glu) rs190652985
NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly) rs150631940
NM_000057.4(BLM):c.4000_4004del (p.Arg1334fs) rs1057516261
NM_000057.4(BLM):c.4019C>T (p.Pro1340Leu) rs766959130
NM_000057.4(BLM):c.4022C>T (p.Ala1341Val) rs201149857
NM_000057.4(BLM):c.4024T>C (p.Ser1342Pro) rs1596273687
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.403G>T (p.Ala135Ser) rs373832397
NM_000057.4(BLM):c.4059T>A (p.Ser1353Arg) rs1060500646
NM_000057.4(BLM):c.4067A>G (p.Lys1356Arg) rs945181516
NM_000057.4(BLM):c.4076+1G>T rs752899566
NM_000057.4(BLM):c.4093A>G (p.Arg1365Gly) rs759982203
NM_000057.4(BLM):c.4094G>A (p.Arg1365Lys) rs753011288
NM_000057.4(BLM):c.409A>G (p.Lys137Glu) rs890597009
NM_000057.4(BLM):c.4112C>T (p.Thr1371Met) rs587779891
NM_000057.4(BLM):c.4126A>G (p.Ile1376Val) rs587779892
NM_000057.4(BLM):c.4130T>C (p.Ile1377Thr) rs1555425416
NM_000057.4(BLM):c.4140T>G (p.Ser1380Arg) rs747834576
NM_000057.4(BLM):c.4151A>G (p.His1384Arg) rs199592406
NM_000057.4(BLM):c.4154C>T (p.Thr1385Ile) rs1596276510
NM_000057.4(BLM):c.4177A>G (p.Asn1393Asp) rs548600410
NM_000057.4(BLM):c.4205C>T (p.Pro1402Leu) rs770313956
NM_000057.4(BLM):c.4214T>C (p.Ile1405Thr) rs763323767
NM_000057.4(BLM):c.4220G>A (p.Arg1407Lys) rs557057587
NM_000057.4(BLM):c.4223C>T (p.Pro1408Leu) rs1022266595
NM_000057.4(BLM):c.4237del (p.Ser1413fs) rs1454179023
NM_000057.4(BLM):c.4240T>C (p.Tyr1414His) rs753800694
NM_000057.4(BLM):c.431C>T (p.Ser144Leu) rs1596218439
NM_000057.4(BLM):c.437A>T (p.Asp146Val) rs902876126
NM_000057.4(BLM):c.43C>T (p.Arg15Cys) rs148545569
NM_000057.4(BLM):c.448A>G (p.Thr150Ala) rs1567035400
NM_000057.4(BLM):c.44G>A (p.Arg15His) rs752755503
NM_000057.4(BLM):c.451A>G (p.Ile151Val) rs780472557
NM_000057.4(BLM):c.488C>T (p.Ser163Phe) rs745819553
NM_000057.4(BLM):c.490G>C (p.Glu164Gln) rs1052258023
NM_000057.4(BLM):c.542G>T (p.Ser181Ile) rs587779893
NM_000057.4(BLM):c.543C>A (p.Ser181Arg) rs761288442
NM_000057.4(BLM):c.545C>T (p.Thr182Ile) rs749838731
NM_000057.4(BLM):c.572G>T (p.Arg191Ile) rs569086568
NM_000057.4(BLM):c.577T>C (p.Phe193Leu) rs779348937
NM_000057.4(BLM):c.57A>T (p.Arg19Ser) rs1555418008
NM_000057.4(BLM):c.605A>T (p.Asn202Ile) rs1596218921
NM_000057.4(BLM):c.61C>G (p.Leu21Val) rs1596215700
NM_000057.4(BLM):c.626C>T (p.Pro209Leu) rs1596218994
NM_000057.4(BLM):c.635C>T (p.Ser212Phe) rs777938065
NM_000057.4(BLM):c.64A>G (p.Asn22Asp) rs1370338581
NM_000057.4(BLM):c.655G>C (p.Asp219His) rs190228320
NM_000057.4(BLM):c.696C>A (p.Ser232Arg) rs201845548
NM_000057.4(BLM):c.700G>A (p.Asp234Asn) rs878853555
NM_000057.4(BLM):c.703G>A (p.Val235Met) rs765696829
NM_000057.4(BLM):c.715G>A (p.Asp239Asn) rs200756519
NM_000057.4(BLM):c.715G>C (p.Asp239His) rs200756519
NM_000057.4(BLM):c.724C>T (p.Pro242Ser) rs768513523
NM_000057.4(BLM):c.727A>G (p.Ile243Val) rs201722470
NM_000057.4(BLM):c.742A>T (p.Ile248Leu) rs558524280
NM_000057.4(BLM):c.800-3T>G rs377266736
NM_000057.4(BLM):c.805A>G (p.Ser269Gly) rs141411463
NM_000057.4(BLM):c.808G>A (p.Glu270Lys) rs762053925
NM_000057.4(BLM):c.813_815GAA[2] (p.Lys273del) rs587779895
NM_000057.4(BLM):c.842A>C (p.His281Pro) rs202042636
NM_000057.4(BLM):c.842A>G (p.His281Arg) rs202042636
NM_000057.4(BLM):c.847A>G (p.Thr283Ala) rs149598003
NM_000057.4(BLM):c.863G>C (p.Cys288Ser) rs1260150929
NM_000057.4(BLM):c.880G>A (p.Asp294Asn) rs1596221148
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>G (p.Tyr296Cys) rs775005766
NM_000057.4(BLM):c.887A>T (p.Tyr296Phe) rs775005766
NM_000057.4(BLM):c.888T>C (p.Tyr296=) rs139277089
NM_000057.4(BLM):c.914C>G (p.Pro305Arg) rs773421970
NM_000057.4(BLM):c.922A>G (p.Ile308Val) rs1596221274
NM_000057.4(BLM):c.931G>T (p.Ala311Ser) rs753911420
NM_000057.4(BLM):c.933_935TTC[2] (p.Ser316del) rs564966225
NM_000057.4(BLM):c.934T>G (p.Ser312Ala) rs372454889
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.959G>C (p.Ser320Thr) rs757112333
NM_000057.4(BLM):c.960-4G>A rs1555418976
NM_000057.4(BLM):c.968A>G (p.Lys323Arg) rs146504061
NM_000057.4(BLM):c.98+6T>G rs886051550
NM_000057.4(BLM):c.98C>T (p.Ser33Leu) rs139282091
NM_000057.4(BLM):c.992A>C (p.Lys331Thr) rs1351404875
NM_000057.4(BLM):c.994G>C (p.Glu332Gln) rs1596223780

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