ClinVar Miner

List of variants in gene BLM reported as uncertain significance for Bloom syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 551
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HGVS dbSNP
NC_000015.9:g.(?_91290613)_(91298178_?)dup
NC_000015.9:g.(?_91290617)_(91358515_?)dup
NC_000015.9:g.(?_91310134)_(91310259_?)del
NM_000057.4(BLM):c.*108C>T rs28363374
NM_000057.4(BLM):c.*77T>A rs116293756
NM_000057.4(BLM):c.-29C>T rs886051549
NM_000057.4(BLM):c.-65C>T rs577293550
NM_000057.4(BLM):c.-70G>T rs552669203
NM_000057.4(BLM):c.1006A>G (p.Ser336Gly) rs1567037959
NM_000057.4(BLM):c.1015A>G (p.Lys339Glu)
NM_000057.4(BLM):c.1018G>A (p.Asp340Asn)
NM_000057.4(BLM):c.1018G>C (p.Asp340His)
NM_000057.4(BLM):c.1027T>G (p.Ser343Ala) rs776620199
NM_000057.4(BLM):c.1032A>T (p.Lys344Asn)
NM_000057.4(BLM):c.1044G>T (p.Met348Ile) rs184657475
NM_000057.4(BLM):c.1054G>A (p.Glu352Lys) rs369583279
NM_000057.4(BLM):c.1064C>G (p.Pro355Arg) rs1022898915
NM_000057.4(BLM):c.1064C>T (p.Pro355Leu)
NM_000057.4(BLM):c.1070C>T (p.Thr357Ile) rs1555419001
NM_000057.4(BLM):c.1087G>A (p.Ala363Thr) rs200364297
NM_000057.4(BLM):c.1088-35C>T
NM_000057.4(BLM):c.1088-5del
NM_000057.4(BLM):c.1088-8T>G
NM_000057.4(BLM):c.1088C>T (p.Ala363Val) rs1567040460
NM_000057.4(BLM):c.1091G>A (p.Arg364Lys) rs1374291628
NM_000057.4(BLM):c.1096A>C (p.Ile366Leu) rs552913880
NM_000057.4(BLM):c.1097T>C (p.Ile366Thr) rs571152089
NM_000057.4(BLM):c.1118T>A (p.Ile373Asn) rs1060500630
NM_000057.4(BLM):c.1121A>G (p.His374Arg) rs776225502
NM_000057.4(BLM):c.1132_1134delinsTAT (p.His378Tyr) rs1555419713
NM_000057.4(BLM):c.114A>G (p.Lys38=) rs770017301
NM_000057.4(BLM):c.1156A>G (p.Ile386Val) rs757636363
NM_000057.4(BLM):c.1166A>G (p.Asp389Gly) rs1555419732
NM_000057.4(BLM):c.1195G>A (p.Glu399Lys) rs538728271
NM_000057.4(BLM):c.1197A>T (p.Glu399Asp)
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057
NM_000057.4(BLM):c.1201C>T (p.Leu401Phe) rs151150267
NM_000057.4(BLM):c.1210C>T (p.Arg404Trp) rs770721765
NM_000057.4(BLM):c.1211G>A (p.Arg404Gln) rs776516663
NM_000057.4(BLM):c.1216A>G (p.Ile406Val) rs769498398
NM_000057.4(BLM):c.1220+5C>G
NM_000057.4(BLM):c.1220G>C (p.Arg407Thr)
NM_000057.4(BLM):c.1221-6C>G rs1555419778
NM_000057.4(BLM):c.1221A>C (p.Arg407Ser)
NM_000057.4(BLM):c.1223G>A (p.Arg408Lys) rs1338335954
NM_000057.4(BLM):c.1228C>T (p.Leu410Phe) rs200688933
NM_000057.4(BLM):c.1231C>G (p.Leu411Val) rs1567040779
NM_000057.4(BLM):c.1235C>T (p.Thr412Met) rs775209685
NM_000057.4(BLM):c.1237G>A (p.Glu413Lys) rs887921909
NM_000057.4(BLM):c.124T>C (p.Ser42Pro) rs1291378382
NM_000057.4(BLM):c.1267_1269CTT[1] (p.Leu424del) rs777886082
NM_000057.4(BLM):c.1288T>C (p.Tyr430His)
NM_000057.4(BLM):c.129_130insTAT (p.Asp44_Asn45insTyr) rs778786003
NM_000057.4(BLM):c.1315A>G (p.Met439Val) rs201231857
NM_000057.4(BLM):c.1319A>G (p.Glu440Gly) rs1567040910
NM_000057.4(BLM):c.1331G>T (p.Cys444Phe) rs1555419834
NM_000057.4(BLM):c.1336A>T (p.Thr446Ser) rs1567040932
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.137A>G (p.Asn46Ser) rs1237910576
NM_000057.4(BLM):c.1387G>A (p.Val463Ile)
NM_000057.4(BLM):c.1388T>G (p.Val463Gly) rs1555419857
NM_000057.4(BLM):c.1397G>A (p.Gly466Glu) rs1567041006
NM_000057.4(BLM):c.13C>T (p.Pro5Ser) rs760982604
NM_000057.4(BLM):c.1415C>A (p.Thr472Asn)
NM_000057.4(BLM):c.1417A>G (p.Thr473Ala)
NM_000057.4(BLM):c.1418C>T (p.Thr473Ile)
NM_000057.4(BLM):c.1430C>T (p.Thr477Ile) rs1567041041
NM_000057.4(BLM):c.1432G>C (p.Gly478Arg) rs1490929990
NM_000057.4(BLM):c.1433G>C (p.Gly478Ala) rs759810567
NM_000057.4(BLM):c.1436T>G (p.Phe479Cys) rs1418071613
NM_000057.4(BLM):c.1437C>G (p.Phe479Leu) rs1567041060
NM_000057.4(BLM):c.1462G>A (p.Glu488Lys) rs1477193473
NM_000057.4(BLM):c.1467G>A (p.Arg489=) rs56257041
NM_000057.4(BLM):c.1468C>T (p.Pro490Ser) rs1567041087
NM_000057.4(BLM):c.1469C>G (p.Pro490Arg) rs878853553
NM_000057.4(BLM):c.1474T>C (p.Phe492Leu) rs764182382
NM_000057.4(BLM):c.1481C>T (p.Thr494Ile) rs751600686
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.1495T>A (p.Ser499Thr) rs371965329
NM_000057.4(BLM):c.1496C>T (p.Ser499Phe) rs778700833
NM_000057.4(BLM):c.14C>T (p.Pro5Leu) rs1567034056
NM_000057.4(BLM):c.1505G>C (p.Ser502Thr) rs908599703
NM_000057.4(BLM):c.1515G>T (p.Trp505Cys) rs1286401716
NM_000057.4(BLM):c.1519G>A (p.Glu507Lys) rs192491153
NM_000057.4(BLM):c.1553C>T (p.Ser518Phe)
NM_000057.4(BLM):c.1559T>C (p.Phe520Ser) rs1410283592
NM_000057.4(BLM):c.1568A>T (p.Asn523Ile) rs1385248707
NM_000057.4(BLM):c.157T>A (p.Ser53Thr) rs1555418248
NM_000057.4(BLM):c.1594G>C (p.Asp532His)
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) rs35224686
NM_000057.4(BLM):c.1610C>A (p.Thr537Asn) rs1555419928
NM_000057.4(BLM):c.1612G>C (p.Ala538Pro)
NM_000057.4(BLM):c.1613C>T (p.Ala538Val) rs778593808
NM_000057.4(BLM):c.1618A>G (p.Ile540Val) rs1060500641
NM_000057.4(BLM):c.1624G>T (p.Asp542Tyr) rs1555419932
NM_000057.4(BLM):c.1630G>A (p.Glu544Lys)
NM_000057.4(BLM):c.1631A>G (p.Glu544Gly) rs1567041307
NM_000057.4(BLM):c.1633A>G (p.Arg545Gly)
NM_000057.4(BLM):c.1634_1639del (p.Arg545_Glu546del) rs1555419934
NM_000057.4(BLM):c.1640C>T (p.Thr547Ile) rs758161226
NM_000057.4(BLM):c.1652A>G (p.Tyr551Cys) rs746571244
NM_000057.4(BLM):c.1657A>G (p.Ile553Val)
NM_000057.4(BLM):c.1676A>T (p.Asp559Val)
NM_000057.4(BLM):c.1683_1685TGA[6] (p.Asp566dup) rs768095141
NM_000057.4(BLM):c.1688A>T (p.Asp563Val) rs1288457938
NM_000057.4(BLM):c.1691A>G (p.Asp564Gly) rs1555419944
NM_000057.4(BLM):c.1708A>T (p.Ile570Leu)
NM_000057.4(BLM):c.1712T>C (p.Met571Thr) rs587778109
NM_000057.4(BLM):c.172C>A (p.Pro58Thr)
NM_000057.4(BLM):c.1730G>A (p.Ser577Asn) rs1567041417
NM_000057.4(BLM):c.1741A>G (p.Thr581Ala) rs587778108
NM_000057.4(BLM):c.1772G>A (p.Arg591Gln) rs28385012
NM_000057.4(BLM):c.1774C>T (p.Pro592Ser)
NM_000057.4(BLM):c.178T>A (p.Leu60Ile) rs138542210
NM_000057.4(BLM):c.17A>C (p.Gln6Pro)
NM_000057.4(BLM):c.1808C>G (p.Ala603Gly) rs1567041486
NM_000057.4(BLM):c.1821T>G (p.Cys607Trp)
NM_000057.4(BLM):c.1825C>A (p.Pro609Thr) rs770255643
NM_000057.4(BLM):c.182G>T (p.Arg61Ile) rs1060500644
NM_000057.4(BLM):c.1838C>T (p.Thr613Ile) rs550417200
NM_000057.4(BLM):c.1850T>C (p.Ile617Thr) rs868510206
NM_000057.4(BLM):c.1856_1858del (p.Phe619del) rs1555419996
NM_000057.4(BLM):c.1863G>C (p.Glu621Asp) rs374965438
NM_000057.4(BLM):c.1864T>C (p.Ser622Pro) rs1033751385
NM_000057.4(BLM):c.1868T>C (p.Ile623Thr) rs1567041556
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.1881T>C (p.Thr627=) rs148678729
NM_000057.4(BLM):c.1888T>C (p.Ser630Pro) rs1567042153
NM_000057.4(BLM):c.1894C>A (p.Gln632Lys) rs746857727
NM_000057.4(BLM):c.1907C>G (p.Ser636Cys)
NM_000057.4(BLM):c.1913A>C (p.Asn638Thr) rs587778110
NM_000057.4(BLM):c.1913A>G (p.Asn638Ser) rs587778110
NM_000057.4(BLM):c.191A>C (p.Asp64Ala) rs140382474
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.1928G>A (p.Arg643His) rs12720097
NM_000057.4(BLM):c.1931T>A (p.Phe644Tyr)
NM_000057.4(BLM):c.1934A>G (p.Gln645Arg) rs377563699
NM_000057.4(BLM):c.1934A>T (p.Gln645Leu)
NM_000057.4(BLM):c.1936A>G (p.Ser646Gly) rs370293537
NM_000057.4(BLM):c.1940T>C (p.Leu647Pro) rs1555420162
NM_000057.4(BLM):c.1964T>C (p.Met655Thr) rs748567176
NM_000057.4(BLM):c.1964_1966TGA[1] (p.Met656del) rs1555420164
NM_000057.4(BLM):c.1972A>G (p.Ile658Val) rs1567042248
NM_000057.4(BLM):c.1973T>C (p.Ile658Thr) rs187379039
NM_000057.4(BLM):c.1978C>T (p.His660Tyr) rs139688226
NM_000057.4(BLM):c.199G>A (p.Val67Ile) rs991350762
NM_000057.4(BLM):c.2015A>G (p.Gln672Arg) rs747281324
NM_000057.4(BLM):c.2045G>A (p.Gly682Asp) rs1342307269
NM_000057.4(BLM):c.204C>A (p.Thr68=) rs199927688
NM_000057.4(BLM):c.2051A>C (p.Asp684Ala) rs1262628899
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.2074+5G>A rs587779880
NM_000057.4(BLM):c.208G>A (p.Asp70Asn) rs769957028
NM_000057.4(BLM):c.2113G>C (p.Val705Leu)
NM_000057.4(BLM):c.2122G>C (p.Gly708Arg) rs1555420390
NM_000057.4(BLM):c.2123G>A (p.Gly708Glu)
NM_000057.4(BLM):c.2143C>T (p.Pro715Ser) rs1060500636
NM_000057.4(BLM):c.214T>G (p.Ser72Ala)
NM_000057.4(BLM):c.2150G>C (p.Arg717Thr) rs28406486
NM_000057.4(BLM):c.2155C>T (p.Leu719Phe) rs587779881
NM_000057.4(BLM):c.2160C>T (p.Ile720=) rs28385028
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.2183C>G (p.Thr728Ser) rs1567043208
NM_000057.4(BLM):c.2194A>T (p.Ile732Phe) rs1555420546
NM_000057.4(BLM):c.2207A>G (p.Tyr736Cys)
NM_000057.4(BLM):c.2212A>G (p.Thr738Ala)
NM_000057.4(BLM):c.2213C>G (p.Thr738Arg) rs1474290499
NM_000057.4(BLM):c.2224A>T (p.Thr742Ser)
NM_000057.4(BLM):c.2237C>T (p.Ala746Val) rs769498533
NM_000057.4(BLM):c.2251C>T (p.Leu751Phe)
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229
NM_000057.4(BLM):c.2268A>G (p.Lys756=) rs146013879
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.2289A>G (p.Leu763=) rs1567044034
NM_000057.4(BLM):c.228_233del (p.Leu77_Pro78del) rs1555418278
NM_000057.4(BLM):c.229C>G (p.Leu77Val) rs1555418283
NM_000057.4(BLM):c.2302G>A (p.Glu768Lys) rs1060500640
NM_000057.4(BLM):c.2307+5G>A
NM_000057.4(BLM):c.2312G>A (p.Cys771Tyr) rs1555420831
NM_000057.4(BLM):c.2315C>T (p.Ala772Val) rs765478171
NM_000057.4(BLM):c.2340G>A (p.Leu780=) rs756031754
NM_000057.4(BLM):c.2351A>G (p.Tyr784Cys) rs753635754
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>G (p.Leu788Val) rs149754073
NM_000057.4(BLM):c.2367G>C (p.Leu789Phe) rs1060500651
NM_000057.4(BLM):c.2368G>T (p.Ala790Ser)
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys) rs55880859
NM_000057.4(BLM):c.2372G>A (p.Arg791His)
NM_000057.4(BLM):c.2374T>G (p.Phe792Val)
NM_000057.4(BLM):c.2384A>G (p.Asp795Gly)
NM_000057.4(BLM):c.238A>G (p.Thr80Ala) rs1555418290
NM_000057.4(BLM):c.2393A>T (p.His798Leu)
NM_000057.4(BLM):c.2407-5A>G rs1555420870
NM_000057.4(BLM):c.2407-7del rs769184675
NM_000057.4(BLM):c.2407-9del rs747699258
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.2428G>C (p.Asp810His) rs765143263
NM_000057.4(BLM):c.2432A>G (p.Tyr811Cys) rs145029382
NM_000057.4(BLM):c.2434A>C (p.Lys812Gln) rs763827222
NM_000057.4(BLM):c.2452C>G (p.Arg818Gly) rs1279814185
NM_000057.4(BLM):c.2452C>T (p.Arg818Cys) rs1279814185
NM_000057.4(BLM):c.2453G>A (p.Arg818His) rs780514723
NM_000057.4(BLM):c.2453G>T (p.Arg818Leu)
NM_000057.4(BLM):c.245A>G (p.Asn82Ser) rs1555418292
NM_000057.4(BLM):c.2460G>T (p.Lys820Asn)
NM_000057.4(BLM):c.2474C>T (p.Pro825Leu) rs749632465
NM_000057.4(BLM):c.2475G>A (p.Pro825=) rs147587050
NM_000057.4(BLM):c.2480T>A (p.Met827Lys) rs748250819
NM_000057.4(BLM):c.248A>G (p.Gln83Arg) rs377192173
NM_000057.4(BLM):c.2490G>A (p.Thr830=) rs765233032
NM_000057.4(BLM):c.2497G>A (p.Ala833Thr) rs763918749
NM_000057.4(BLM):c.24T>G (p.Asn8Lys) rs1060500635
NM_000057.4(BLM):c.2506A>G (p.Arg836Gly) rs577806633
NM_000057.4(BLM):c.2515A>G (p.Lys839Glu) rs201427280
NM_000057.4(BLM):c.2516A>G (p.Lys839Arg) rs756815062
NM_000057.4(BLM):c.2524C>A (p.Leu842Met) rs1209722688
NM_000057.4(BLM):c.2532G>T (p.Gln844His)
NM_000057.4(BLM):c.2540T>G (p.Ile847Ser) rs756664681
NM_000057.4(BLM):c.2552A>G (p.Gln851Arg) rs1454270314
NM_000057.4(BLM):c.2555+6T>C
NM_000057.4(BLM):c.2556-8T>A
NM_000057.4(BLM):c.2556-8T>C rs1567052156
NM_000057.4(BLM):c.2561G>A (p.Ser854Asn) rs758692622
NM_000057.4(BLM):c.2563A>G (p.Met855Val) rs1567052166
NM_000057.4(BLM):c.256G>C (p.Val86Leu)
NM_000057.4(BLM):c.2570T>C (p.Phe857Ser) rs1567052169
NM_000057.4(BLM):c.2572A>G (p.Asn858Asp) rs1555422355
NM_000057.4(BLM):c.2594A>G (p.Tyr865Cys) rs777842626
NM_000057.4(BLM):c.2603C>G (p.Pro868Arg) rs2227935
NM_000057.4(BLM):c.2605A>C (p.Lys869Gln) rs1555422363
NM_000057.4(BLM):c.2619G>C (p.Lys873Asn) rs146723808
NM_000057.4(BLM):c.2635C>G (p.Leu879Val) rs1461606733
NM_000057.4(BLM):c.2638G>C (p.Glu880Gln) rs201770808
NM_000057.4(BLM):c.2643G>C (p.Trp881Cys)
NM_000057.4(BLM):c.2647A>G (p.Arg883Gly)
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.2656C>A (p.His886Asn) rs765636566
NM_000057.4(BLM):c.2662T>C (p.Tyr888His) rs758696992
NM_000057.4(BLM):c.2663-5G>A rs1161787867
NM_000057.4(BLM):c.2672G>A (p.Gly891Glu) rs763471784
NM_000057.4(BLM):c.2674A>G (p.Ile892Val) rs764587569
NM_000057.4(BLM):c.2696G>A (p.Arg899Gln) rs748054605
NM_000057.4(BLM):c.2720C>T (p.Thr907Met) rs367953471
NM_000057.4(BLM):c.2726A>C (p.Gln909Pro) rs770627241
NM_000057.4(BLM):c.2729G>C (p.Arg910Thr) rs1567053290
NM_000057.4(BLM):c.2739C>T (p.Leu913=) rs759223856
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.2746C>G (p.Leu916Val) rs1424143421
NM_000057.4(BLM):c.274A>G (p.Asn92Asp) rs200690226
NM_000057.4(BLM):c.2768G>C (p.Ser923Thr) rs1219485932
NM_000057.4(BLM):c.2787A>C (p.Glu929Asp) rs764679551
NM_000057.4(BLM):c.2806A>G (p.Asn936Asp) rs1422513540
NM_000057.4(BLM):c.280C>T (p.Pro94Ser) rs1417089374
NM_000057.4(BLM):c.2822A>G (p.Gln941Arg) rs762267785
NM_000057.4(BLM):c.2840T>C (p.Ile947Thr) rs1024172175
NM_000057.4(BLM):c.2843C>A (p.Ala948Glu)
NM_000057.4(BLM):c.284C>A (p.Ala95Glu)
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)
NM_000057.4(BLM):c.2873T>A (p.Val958Glu) rs1555423088
NM_000057.4(BLM):c.2881G>T (p.Val961Leu) rs1060500639
NM_000057.4(BLM):c.2882T>C (p.Val961Ala) rs1567056582
NM_000057.4(BLM):c.2915G>T (p.Gly972Val)
NM_000057.4(BLM):c.2917T>A (p.Tyr973Asn) rs1555423104
NM_000057.4(BLM):c.2923C>G (p.Gln975Glu)
NM_000057.4(BLM):c.2950G>A (p.Gly984Arg) rs755784410
NM_000057.4(BLM):c.2956A>G (p.Ile986Val) rs1567056667
NM_000057.4(BLM):c.2957T>C (p.Ile986Thr) rs1060500631
NM_000057.4(BLM):c.2960C>G (p.Ser987Cys) rs1555423111
NM_000057.4(BLM):c.2960C>T (p.Ser987Phe) rs1555423111
NM_000057.4(BLM):c.2965T>C (p.Cys989Arg) rs1555423112
NM_000057.4(BLM):c.2980A>G (p.Thr994Ala) rs1060500632
NM_000057.4(BLM):c.2983T>C (p.Tyr995His) rs142723411
NM_000057.4(BLM):c.2996C>G (p.Thr999Ser) rs1567056730
NM_000057.4(BLM):c.3000A>T (p.Arg1000Ser) rs1395403568
NM_000057.4(BLM):c.3013A>G (p.Ile1005Val) rs201829983
NM_000057.4(BLM):c.3014T>C (p.Ile1005Thr) rs772671554
NM_000057.4(BLM):c.3015A>G (p.Ile1005Met) rs1567056762
NM_000057.4(BLM):c.3020-7_3020-5del
NM_000057.4(BLM):c.3021G>A (p.Met1007Ile) rs1244649224
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.3041A>G (p.His1014Arg) rs145022945
NM_000057.4(BLM):c.3044C>T (p.Thr1015Ile) rs202196488
NM_000057.4(BLM):c.3062A>G (p.Asn1021Ser) rs369629509
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.3071A>G (p.Tyr1024Cys) rs201676342
NM_000057.4(BLM):c.3079G>A (p.Val1027Ile) rs1300299815
NM_000057.4(BLM):c.3083A>G (p.His1028Arg) rs1487267563
NM_000057.4(BLM):c.3091G>A (p.Glu1031Lys) rs1396000294
NM_000057.4(BLM):c.3098T>C (p.Ile1033Thr) rs1060500647
NM_000057.4(BLM):c.3113G>C (p.Arg1038Thr) rs1555423425
NM_000057.4(BLM):c.311C>T (p.Ser104Leu) rs367543030
NM_000057.4(BLM):c.3131A>G (p.Tyr1044Cys) rs747571272
NM_000057.4(BLM):c.3153T>A (p.Asn1051Lys)
NM_000057.4(BLM):c.3154C>A (p.Pro1052Thr)
NM_000057.4(BLM):c.3163T>C (p.Cys1055Arg) rs746218707
NM_000057.4(BLM):c.3167A>G (p.Lys1056Arg) rs1465842377
NM_000057.4(BLM):c.318_320ATT[1] (p.Leu108del) rs1555418313
NM_000057.4(BLM):c.3191A>G (p.Asp1064Gly) rs367543032
NM_000057.4(BLM):c.3210+4A>G rs776621429
NM_000057.4(BLM):c.3224G>A (p.Arg1075Lys)
NM_000057.4(BLM):c.3229G>A (p.Val1077Met) rs779096973
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.3238G>C (p.Asp1080His) rs771767745
NM_000057.4(BLM):c.3242T>A (p.Val1081Glu) rs762716289
NM_000057.4(BLM):c.3267A>G (p.Gln1089=) rs1396484162
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.3286G>A (p.Gly1096Arg) rs1334208387
NM_000057.4(BLM):c.3287G>T (p.Gly1096Val) rs893352310
NM_000057.4(BLM):c.3293G>A (p.Arg1098Lys)
NM_000057.4(BLM):c.3297T>G (p.Asn1099Lys)
NM_000057.4(BLM):c.3305A>G (p.His1102Arg) rs778994524
NM_000057.4(BLM):c.3308T>C (p.Val1103Ala)
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.3324A>T (p.Arg1108Ser)
NM_000057.4(BLM):c.3331A>G (p.Met1111Val)
NM_000057.4(BLM):c.3340C>T (p.Leu1114=) rs1567060305
NM_000057.4(BLM):c.3341T>C (p.Leu1114Pro) rs1444338168
NM_000057.4(BLM):c.3346G>C (p.Asp1116His) rs936749145
NM_000057.4(BLM):c.3354C>A (p.Phe1118Leu) rs1351493073
NM_000057.4(BLM):c.3358G>A (p.Gly1120Arg) rs139773499
NM_000057.4(BLM):c.3359-13A>G rs200250931
NM_000057.4(BLM):c.335T>C (p.Leu112Ser)
NM_000057.4(BLM):c.3360G>T (p.Gly1120=) rs1567062602
NM_000057.4(BLM):c.3362G>C (p.Ser1121Thr)
NM_000057.4(BLM):c.3362G>T (p.Ser1121Ile) rs758753168
NM_000057.4(BLM):c.3365A>C (p.Lys1122Thr)
NM_000057.4(BLM):c.3371C>G (p.Ala1124Gly)
NM_000057.4(BLM):c.3383_3384delinsATATTTGTATACTT (p.Ser1128delinsTyrIleCysIleLeu)
NM_000057.4(BLM):c.3386G>A (p.Gly1129Asp) rs375841213
NM_000057.4(BLM):c.3397A>G (p.Lys1133Glu) rs145027663
NM_000057.4(BLM):c.3400G>A (p.Gly1134Arg) rs1057516774
NM_000057.4(BLM):c.3401G>A (p.Gly1134Glu) rs1555424286
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)
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys) rs140387675
NM_000057.4(BLM):c.3434T>C (p.Leu1145Pro)
NM_000057.4(BLM):c.343C>T (p.Pro115Ser) rs1173491187
NM_000057.4(BLM):c.3442A>G (p.Lys1148Glu)
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.3472G>A (p.Asp1158Asn) rs1567062737
NM_000057.4(BLM):c.3478T>C (p.Tyr1160His)
NM_000057.4(BLM):c.3485A>G (p.Asn1162Ser) rs1237460907
NM_000057.4(BLM):c.3497A>T (p.Gln1166Leu) rs371774802
NM_000057.4(BLM):c.3500C>G (p.Ala1167Gly) rs987150263
NM_000057.4(BLM):c.3505G>A (p.Ala1169Thr) rs777492549
NM_000057.4(BLM):c.3511G>A (p.Val1171Met) rs770585247
NM_000057.4(BLM):c.3520G>A (p.Gly1174Arg) rs776156059
NM_000057.4(BLM):c.3524A>G (p.Asn1175Ser)
NM_000057.4(BLM):c.353T>C (p.Val118Ala)
NM_000057.4(BLM):c.3556A>G (p.Lys1186Glu) rs750532596
NM_000057.4(BLM):c.3558+1G>T rs148969222
NM_000057.4(BLM):c.3558+3A>G rs766386042
NM_000057.4(BLM):c.3569T>C (p.Met1190Thr) rs1555424373
NM_000057.4(BLM):c.3608C>T (p.Ala1203Val) rs757088548
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256
NM_000057.4(BLM):c.362C>G (p.Thr121Ser) rs1567035318
NM_000057.4(BLM):c.3641T>C (p.Met1214Thr)
NM_000057.4(BLM):c.3642G>A (p.Met1214Ile) rs377253486
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.3668C>G (p.Thr1223Arg) rs772506214
NM_000057.4(BLM):c.3671A>C (p.Glu1224Ala)
NM_000057.4(BLM):c.3685C>G (p.Leu1229Val) rs1555424395
NM_000057.4(BLM):c.368A>G (p.Gln123Arg) rs371223446
NM_000057.4(BLM):c.371A>G (p.Asn124Ser) rs770825975
NM_000057.4(BLM):c.3733A>T (p.Thr1245Ser) rs1555424403
NM_000057.4(BLM):c.3743A>T (p.Lys1248Met) rs1555424404
NM_000057.4(BLM):c.3751+10C>T rs199685140
NM_000057.4(BLM):c.3751G>C (p.Glu1251Gln) rs587779888
NM_000057.4(BLM):c.3757T>G (p.Leu1253Val)
NM_000057.4(BLM):c.376C>T (p.Pro126Ser) rs587778106
NM_000057.4(BLM):c.3774G>A (p.Glu1258=)
NM_000057.4(BLM):c.377C>T (p.Pro126Leu) rs1060500650
NM_000057.4(BLM):c.3781C>T (p.Leu1261Phe) rs1567065644
NM_000057.4(BLM):c.379A>G (p.Thr127Ala) rs528474170
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.3865A>T (p.Thr1289Ser) rs1060500645
NM_000057.4(BLM):c.3869C>T (p.Ser1290Leu) rs1031421025
NM_000057.4(BLM):c.3872C>T (p.Pro1291Leu) rs373003917
NM_000057.4(BLM):c.3875-5T>C
NM_000057.4(BLM):c.3875C>A (p.Ala1292Asp) rs1567066745
NM_000057.4(BLM):c.3879A>G (p.Glu1293=) rs28377085
NM_000057.4(BLM):c.3892G>A (p.Gly1298Arg) rs587779889
NM_000057.4(BLM):c.3897A>G (p.Ile1299Met)
NM_000057.4(BLM):c.3922G>A (p.Gly1308Arg) rs768010078
NM_000057.4(BLM):c.3923G>A (p.Gly1308Glu) rs750865930
NM_000057.4(BLM):c.3924A>T (p.Gly1308=) rs1019687102
NM_000057.4(BLM):c.3926G>C (p.Arg1309Thr) rs1280067298
NM_000057.4(BLM):c.3930T>G (p.Ser1310Arg) rs886051552
NM_000057.4(BLM):c.3934G>A (p.Ala1312Thr) rs527291754
NM_000057.4(BLM):c.3944_3945delinsCT (p.Leu1315Pro) rs1567066844
NM_000057.4(BLM):c.3949G>A (p.Glu1317Lys) rs730880251
NM_000057.4(BLM):c.394C>T (p.Arg132Trp)
NM_000057.4(BLM):c.3958C>A (p.Pro1320Thr)
NM_000057.4(BLM):c.395G>A (p.Arg132Gln) rs775197136
NM_000057.4(BLM):c.3960C>T (p.Pro1320=) rs56009845
NM_000057.4(BLM):c.3970C>T (p.His1324Tyr) rs748943489
NM_000057.4(BLM):c.3976T>A (p.Phe1326Ile) rs1222912167
NM_000057.4(BLM):c.3985A>G (p.Lys1329Glu)
NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly) rs150631940
NM_000057.4(BLM):c.3992G>A (p.Arg1331Lys) rs1060500648
NM_000057.4(BLM):c.4016T>C (p.Met1339Thr) rs761320085
NM_000057.4(BLM):c.4019C>T (p.Pro1340Leu) rs766959130
NM_000057.4(BLM):c.4021G>T (p.Ala1341Ser)
NM_000057.4(BLM):c.4022C>T (p.Ala1341Val) rs201149857
NM_000057.4(BLM):c.4037A>G (p.Lys1346Arg)
NM_000057.4(BLM):c.4039_4048del (p.Arg1347fs) rs1555425105
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.4061G>C (p.Gly1354Ala) rs891751726
NM_000057.4(BLM):c.4076+1G>T rs752899566
NM_000057.4(BLM):c.4076+3A>G rs758564326
NM_000057.4(BLM):c.4076G>A (p.Gly1359Glu)
NM_000057.4(BLM):c.4077-10C>T rs145310008
NM_000057.4(BLM):c.4088C>T (p.Thr1363Ile) rs1060500649
NM_000057.4(BLM):c.4090T>C (p.Cys1364Arg)
NM_000057.4(BLM):c.4093A>G (p.Arg1365Gly) rs759982203
NM_000057.4(BLM):c.4102T>C (p.Ser1368Pro) rs587778104
NM_000057.4(BLM):c.4112C>T (p.Thr1371Met) rs587779891
NM_000057.4(BLM):c.4123del (p.Ser1375fs) rs1555425410
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.4132G>T (p.Gly1378Ter) rs1555425417
NM_000057.4(BLM):c.4140T>G (p.Ser1380Arg) rs747834576
NM_000057.4(BLM):c.4148C>G (p.Ser1383Ter) rs1567068960
NM_000057.4(BLM):c.4162G>C (p.Ala1388Pro)
NM_000057.4(BLM):c.416T>C (p.Leu139Ser)
NM_000057.4(BLM):c.4177A>G (p.Asn1393Asp)
NM_000057.4(BLM):c.4196T>C (p.Met1399Thr) rs1567069030
NM_000057.4(BLM):c.4205C>T (p.Pro1402Leu) rs770313956
NM_000057.4(BLM):c.4210C>T (p.Pro1404Ser) rs1567069054
NM_000057.4(BLM):c.4214T>C (p.Ile1405Thr) rs763323767
NM_000057.4(BLM):c.4216_4217del (p.Ile1405_Asn1406insTer) rs1567069065
NM_000057.4(BLM):c.4220G>A (p.Arg1407Lys) rs557057587
NM_000057.4(BLM):c.4221A>C (p.Arg1407Ser) rs1567069076
NM_000057.4(BLM):c.4223C>G (p.Pro1408Arg) rs1022266595
NM_000057.4(BLM):c.4223C>T (p.Pro1408Leu)
NM_000057.4(BLM):c.4240T>C (p.Tyr1414His) rs753800694
NM_000057.4(BLM):c.4248C>G (p.Phe1416Leu) rs1567069125
NM_000057.4(BLM):c.4251A>C (p.Ser1417=) rs886051553
NM_000057.4(BLM):c.4252T>A (p.Ter1418Lys) rs1555425441
NM_000057.4(BLM):c.433C>G (p.Pro145Ala) rs1555418335
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.455A>G (p.Asn152Ser)
NM_000057.4(BLM):c.457G>C (p.Asp153His) rs368158276
NM_000057.4(BLM):c.470T>C (p.Met157Thr)
NM_000057.4(BLM):c.483_491del (p.Asp161_Ser163del) rs773427744
NM_000057.4(BLM):c.485C>T (p.Thr162Ile)
NM_000057.4(BLM):c.488C>T (p.Ser163Phe) rs745819553
NM_000057.4(BLM):c.489_497dup (p.Glu164_Ser166dup) rs1555418362
NM_000057.4(BLM):c.491A>C (p.Glu164Ala) rs1555418365
NM_000057.4(BLM):c.499A>G (p.Lys167Glu) rs775285496
NM_000057.4(BLM):c.4G>T (p.Ala2Ser) rs199769364
NM_000057.4(BLM):c.506T>G (p.Phe169Cys) rs1013299710
NM_000057.4(BLM):c.532G>A (p.Val178Ile) rs1191794374
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.544A>G (p.Thr182Ala) rs1060500643
NM_000057.4(BLM):c.563A>G (p.Lys188Arg)
NM_000057.4(BLM):c.566G>A (p.Gly189Asp) rs754306004
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.586G>A (p.Ala196Thr) rs1567035597
NM_000057.4(BLM):c.607A>G (p.Thr203Ala) rs1060500633
NM_000057.4(BLM):c.615G>C (p.Lys205Asn) rs28903082
NM_000057.4(BLM):c.623T>G (p.Leu208Trp) rs1555418411
NM_000057.4(BLM):c.635C>T (p.Ser212Phe) rs777938065
NM_000057.4(BLM):c.645C>G (p.Ser215Arg) rs56218710
NM_000057.4(BLM):c.646G>A (p.Glu216Lys) rs779934502
NM_000057.4(BLM):c.64A>G (p.Asn22Asp)
NM_000057.4(BLM):c.651A>C (p.Gln217His) rs1258361408
NM_000057.4(BLM):c.655G>C (p.Asp219His)
NM_000057.4(BLM):c.656A>C (p.Asp219Ala) rs1246909789
NM_000057.4(BLM):c.657T>G (p.Asp219Glu) rs1447056195
NM_000057.4(BLM):c.671A>C (p.Gln224Pro) rs770111029
NM_000057.4(BLM):c.671A>G (p.Gln224Arg) rs770111029
NM_000057.4(BLM):c.678_680dup (p.Asp227dup) rs1555418424
NM_000057.4(BLM):c.679G>A (p.Asp227Asn) rs1555418427
NM_000057.4(BLM):c.685G>C (p.Glu229Gln) rs1555418428
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.715G>A (p.Asp239Asn) rs200756519
NM_000057.4(BLM):c.715G>C (p.Asp239His) rs200756519
NM_000057.4(BLM):c.716A>G (p.Asp239Gly) rs751699247
NM_000057.4(BLM):c.722G>A (p.Gly241Asp) rs200897029
NM_000057.4(BLM):c.724C>T (p.Pro242Ser) rs768513523
NM_000057.4(BLM):c.725C>G (p.Pro242Arg) rs1060500642
NM_000057.4(BLM):c.727A>G (p.Ile243Val) rs201722470
NM_000057.4(BLM):c.752A>T (p.Asp251Val) rs1555418456
NM_000057.4(BLM):c.763A>G (p.Ser255Gly) rs1567035814
NM_000057.4(BLM):c.782A>G (p.His261Arg) rs763166861
NM_000057.4(BLM):c.794A>G (p.Glu265Gly) rs907073579
NM_000057.4(BLM):c.800-3T>G rs377266736
NM_000057.4(BLM):c.803A>G (p.Asn268Ser) rs763432949
NM_000057.4(BLM):c.805A>G (p.Ser269Gly) rs141411463
NM_000057.4(BLM):c.807C>T (p.Ser269=) rs147850738
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.820A>G (p.Asn274Asp)
NM_000057.4(BLM):c.820A>T (p.Asn274Tyr)
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.843T>G (p.His281Gln) rs1567036601
NM_000057.4(BLM):c.847A>G (p.Thr283Ala) rs149598003
NM_000057.4(BLM):c.848C>G (p.Thr283Ser) rs1567036612
NM_000057.4(BLM):c.856G>T (p.Val286Phe) rs758301305
NM_000057.4(BLM):c.874_876GAT[5] (p.Asp295dup) rs1208432656
NM_000057.4(BLM):c.883G>T (p.Asp295Tyr) rs146096923
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.894G>A (p.Thr298=) rs762144355
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.959G>C (p.Ser320Thr) rs757112333
NM_000057.4(BLM):c.968A>G (p.Lys323Arg) rs146504061
NM_000057.4(BLM):c.98+3_98+6del rs1555418015
NM_000057.4(BLM):c.98+6T>G rs886051550
NM_000057.4(BLM):c.980C>G (p.Thr327Ser)
NM_000057.4(BLM):c.98C>T (p.Ser33Leu) rs139282091
NM_000057.4(BLM):c.99-9_99-7del rs1229333064
NM_000057.4(BLM):c.992A>C (p.Lys331Thr) rs1351404875

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