ClinVar Miner

List of variants reported as uncertain significance for Bloom syndrome by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1753
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HGVS dbSNP gnomAD frequency
NM_000057.4(BLM):c.968A>G (p.Lys323Arg) rs146504061 0.00056
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.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.1087G>A (p.Ala363Thr) rs200364297 0.00012
NM_000057.4(BLM):c.1097T>C (p.Ile366Thr) rs571152089 0.00011
NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly) rs150631940 0.00010
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.2619G>C (p.Lys873Asn) rs146723808 0.00006
NM_000057.4(BLM):c.3071A>G (p.Tyr1024Cys) rs201676342 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.800-3T>G rs377266736 0.00006
NM_000057.4(BLM):c.808G>A (p.Glu270Lys) rs762053925 0.00006
NM_000057.4(BLM):c.1121A>G (p.His374Arg) rs776225502 0.00005
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.934T>G (p.Ser312Ala) rs372454889 0.00005
NM_000057.4(BLM):c.1415C>A (p.Thr472Asn) rs368967327 0.00004
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.2432A>G (p.Tyr811Cys) rs145029382 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.4102T>A (p.Ser1368Thr) rs587778104 0.00004
NM_000057.4(BLM):c.451A>G (p.Ile151Val) rs780472557 0.00004
NM_000057.4(BLM):c.457G>C (p.Asp153His) rs368158276 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.847A>G (p.Thr283Ala) rs149598003 0.00004
NM_000057.4(BLM):c.98C>T (p.Ser33Leu) rs139282091 0.00004
NM_000057.4(BLM):c.1100G>A (p.Ser367Asn) rs772176483 0.00003
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.2452C>G (p.Arg818Gly) rs1279814185 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.3922G>A (p.Gly1308Arg) rs768010078 0.00003
NM_000057.4(BLM):c.4022C>T (p.Ala1341Val) rs201149857 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.4240T>C (p.Tyr1414His) rs753800694 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.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.3299T>G (p.Ile1100Arg) rs755282763 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.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.3949G>A (p.Glu1317Lys) rs730880251 0.00002
NM_000057.4(BLM):c.395G>A (p.Arg132Gln) rs775197136 0.00002
NM_000057.4(BLM):c.397G>A (p.Asp133Asn) rs762621627 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.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.1039A>G (p.Lys347Glu) rs375250788 0.00001
NM_000057.4(BLM):c.106A>G (p.Thr36Ala) rs1714362154 0.00001
NM_000057.4(BLM):c.1091G>A (p.Arg364Lys) rs1374291628 0.00001
NM_000057.4(BLM):c.1117A>G (p.Ile373Val) rs766212032 0.00001
NM_000057.4(BLM):c.1154C>A (p.Thr385Asn) rs202009716 0.00001
NM_000057.4(BLM):c.1156A>G (p.Ile386Val) rs757636363 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.1220G>T (p.Arg407Ile) rs1350192744 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.1288T>C (p.Tyr430His) rs1314473930 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.1348A>G (p.Met450Val) rs200385935 0.00001
NM_000057.4(BLM):c.137A>G (p.Asn46Ser) rs1237910576 0.00001
NM_000057.4(BLM):c.1412C>T (p.Thr471Ile) rs1281556342 0.00001
NM_000057.4(BLM):c.1417A>G (p.Thr473Ala) rs1596229797 0.00001
NM_000057.4(BLM):c.1418C>T (p.Thr473Ile) rs761284618 0.00001
NM_000057.4(BLM):c.1432G>A (p.Gly478Arg) rs1490929990 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.1474T>C (p.Phe492Leu) rs764182382 0.00001
NM_000057.4(BLM):c.1480A>G (p.Thr494Ala) rs1596229967 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.1541A>G (p.Lys514Arg) rs550463714 0.00001
NM_000057.4(BLM):c.1568A>T (p.Asn523Ile) rs1385248707 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.1640C>T (p.Thr547Ile) rs758161226 0.00001
NM_000057.4(BLM):c.1652A>G (p.Tyr551Cys) rs746571244 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.1739C>G (p.Ser580Cys) rs1895974290 0.00001
NM_000057.4(BLM):c.1741A>G (p.Thr581Ala) rs587778108 0.00001
NM_000057.4(BLM):c.1751A>G (p.Tyr584Cys) rs765187809 0.00001
NM_000057.4(BLM):c.1769G>C (p.Gly590Ala) rs758250947 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.1774C>T (p.Pro592Ser) rs1197143678 0.00001
NM_000057.4(BLM):c.1784C>T (p.Ser595Leu) rs138943954 0.00001
NM_000057.4(BLM):c.1821T>G (p.Cys607Trp) rs1207886252 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.1849A>T (p.Ile617Leu) rs1219301379 0.00001
NM_000057.4(BLM):c.186T>G (p.Asn62Lys) rs146735953 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.1955C>G (p.Thr652Arg) rs1475280501 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.2161G>A (p.Val721Ile) rs559554788 0.00001
NM_000057.4(BLM):c.2182A>G (p.Thr728Ala) rs1440142847 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.2321A>G (p.Asn774Ser) rs1245556905 0.00001
NM_000057.4(BLM):c.2326C>T (p.Leu776Phe) rs1483824560 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.2456A>G (p.Gln819Arg) rs1265964518 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.2560A>G (p.Ser854Gly) rs752969832 0.00001
NM_000057.4(BLM):c.2561G>A (p.Ser854Asn) rs758692622 0.00001
NM_000057.4(BLM):c.2635C>G (p.Leu879Val) rs1461606733 0.00001
NM_000057.4(BLM):c.264C>A (p.Asp88Glu) rs757984551 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.2674A>G (p.Ile892Val) rs764587569 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.2827A>G (p.Ile943Val) rs1301812486 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.2956A>G (p.Ile986Val) rs1567056667 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.3017T>C (p.Met1006Thr) rs1896890020 0.00001
NM_000057.4(BLM):c.3019+6C>G rs773494621 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.3110G>A (p.Arg1037Lys) rs990520268 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.3211G>T (p.Asp1071Tyr) rs794727180 0.00001
NM_000057.4(BLM):c.3221C>T (p.Thr1074Ile) rs144021705 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.3293G>A (p.Arg1098Lys) rs912777535 0.00001
NM_000057.4(BLM):c.3298A>G (p.Ile1100Val) rs1897079693 0.00001
NM_000057.4(BLM):c.329A>G (p.Asp110Gly) rs1292239409 0.00001
NM_000057.4(BLM):c.3307G>A (p.Val1103Ile) rs748331529 0.00001
NM_000057.4(BLM):c.3308T>C (p.Val1103Ala) rs1481919924 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.3454G>T (p.Asp1152Tyr) rs1156919580 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.3491A>G (p.Asn1164Ser) rs751855048 0.00001
NM_000057.4(BLM):c.3505G>A (p.Ala1169Thr) rs777492549 0.00001
NM_000057.4(BLM):c.3509A>C (p.Tyr1170Ser) rs746692894 0.00001
NM_000057.4(BLM):c.353T>C (p.Val118Ala) rs768933887 0.00001
NM_000057.4(BLM):c.3558+3A>G rs766386042 0.00001
NM_000057.4(BLM):c.3559G>A (p.Val1187Ile) rs547814390 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.3637G>A (p.Glu1213Lys) rs28385142 0.00001
NM_000057.4(BLM):c.3642G>A (p.Met1214Ile) rs377253486 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.3752-13T>G rs778248812 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.3869C>T (p.Ser1290Leu) rs1031421025 0.00001
NM_000057.4(BLM):c.3874G>A (p.Ala1292Thr) rs757641454 0.00001
NM_000057.4(BLM):c.3875-2A>G rs150421256 0.00001
NM_000057.4(BLM):c.3892G>A (p.Gly1298Arg) rs587779889 0.00001
NM_000057.4(BLM):c.3923G>A (p.Gly1308Glu) rs750865930 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.3976T>A (p.Phe1326Ile) rs1222912167 0.00001
NM_000057.4(BLM):c.3985A>G (p.Lys1329Glu) rs190652985 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.4024T>C (p.Ser1342Pro) rs1596273687 0.00001
NM_000057.4(BLM):c.4025C>T (p.Ser1342Phe) rs761200006 0.00001
NM_000057.4(BLM):c.4059T>A (p.Ser1353Arg) rs1060500646 0.00001
NM_000057.4(BLM):c.4067A>G (p.Lys1356Arg) rs945181516 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.4087A>G (p.Thr1363Ala) rs1897524369 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.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.635C>T (p.Ser212Phe) rs777938065 0.00001
NM_000057.4(BLM):c.641A>G (p.Glu214Gly) rs1230930956 0.00001
NM_000057.4(BLM):c.646G>A (p.Glu216Lys) rs779934502 0.00001
NM_000057.4(BLM):c.656A>G (p.Asp219Gly) rs1246909789 0.00001
NM_000057.4(BLM):c.657T>G (p.Asp219Glu) rs1447056195 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.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.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.(?_90747383)_(90769596_?)dup
NC_000015.10:g.(?_90766904)_(90767029_?)del
NC_000015.10:g.(?_90782812)_(90968837_?)dup
NC_000015.9:g.(?_32964879)_(91358519_?)dup
NC_000015.9:g.(?_91259558)_(91359692_?)dup
NC_000015.9:g.(?_91290613)_(91298178_?)dup
NC_000015.9:g.(?_91290617)_(91358515_?)dup
NC_000015.9:g.(?_91290623)_(91358509_?)dup
NC_000015.9:g.(?_91290623)_(91512067_?)dup
NC_000015.9:g.(?_91310130)_(91310263_?)del
NC_000015.9:g.(?_91310130)_(91312471_?)dup
NC_000015.9:g.(?_91310134)_(91310259_?)del
NC_000015.9:g.(?_91341410)_(91358509_?)dup
NC_000015.9:g.(?_91358322)_(91358509_?)dup
NC_000015.9:g.(?_91358322)_(91358519_?)del
NM_000057.4(BLM):c.1001T>A (p.Val334Asp) rs1895775882
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.1012T>C (p.Ser338Pro)
NM_000057.4(BLM):c.1012T>G (p.Ser338Ala) rs2151152195
NM_000057.4(BLM):c.1015A>G (p.Lys339Glu) rs1596223833
NM_000057.4(BLM):c.1018G>A (p.Asp340Asn) rs1596223836
NM_000057.4(BLM):c.1018G>C (p.Asp340His) rs1596223836
NM_000057.4(BLM):c.1020T>A (p.Asp340Glu) rs2151152205
NM_000057.4(BLM):c.1021C>A (p.Leu341Ile)
NM_000057.4(BLM):c.1021C>T (p.Leu341Phe) rs2151152210
NM_000057.4(BLM):c.1025T>C (p.Leu342Ser) rs1596223853
NM_000057.4(BLM):c.1027T>A (p.Ser343Thr) rs776620199
NM_000057.4(BLM):c.1034C>T (p.Pro345Leu)
NM_000057.4(BLM):c.1037A>C (p.Glu346Ala) rs1946402648
NM_000057.4(BLM):c.1043T>C (p.Met348Thr)
NM_000057.4(BLM):c.1044G>T (p.Met348Ile) rs184657475
NM_000057.4(BLM):c.1045A>G (p.Ser349Gly) rs1895778101
NM_000057.4(BLM):c.1045_1050del (p.Ser349_Met350del)
NM_000057.4(BLM):c.1046G>A (p.Ser349Asn) rs761783430
NM_000057.4(BLM):c.1049T>C (p.Met350Thr)
NM_000057.4(BLM):c.1052A>G (p.Gln351Arg)
NM_000057.4(BLM):c.1054G>A (p.Glu352Lys) rs369583279
NM_000057.4(BLM):c.1057C>G (p.Leu353Val) rs1895778737
NM_000057.4(BLM):c.1063C>G (p.Pro355Ala) rs1895778825
NM_000057.4(BLM):c.1064C>A (p.Pro355Gln)
NM_000057.4(BLM):c.1064C>G (p.Pro355Arg) rs1022898915
NM_000057.4(BLM):c.1064C>T (p.Pro355Leu) rs1022898915
NM_000057.4(BLM):c.1072A>C (p.Ser358Arg) rs1336484885
NM_000057.4(BLM):c.1073G>A (p.Ser358Asn)
NM_000057.4(BLM):c.1073G>T (p.Ser358Ile) rs750203166
NM_000057.4(BLM):c.1075A>C (p.Thr359Pro) rs1332024999
NM_000057.4(BLM):c.1079A>G (p.Asp360Gly)
NM_000057.4(BLM):c.107C>G (p.Thr36Ser) rs1895599706
NM_000057.4(BLM):c.1087+5A>G
NM_000057.4(BLM):c.1088-5T>A
NM_000057.4(BLM):c.1088-5del rs1596228766
NM_000057.4(BLM):c.1088-8T>G rs1596228765
NM_000057.4(BLM):c.1088C>T (p.Ala363Val) rs1567040460
NM_000057.4(BLM):c.1095G>A (p.Gln365=)
NM_000057.4(BLM):c.1096A>C (p.Ile366Leu) rs552913880
NM_000057.4(BLM):c.1098A>G (p.Ile366Met)
NM_000057.4(BLM):c.10G>A (p.Val4Ile) rs1466614215
NM_000057.4(BLM):c.10G>C (p.Val4Leu) rs1466614215
NM_000057.4(BLM):c.10G>T (p.Val4Phe) rs1466614215
NM_000057.4(BLM):c.1100G>C (p.Ser367Thr)
NM_000057.4(BLM):c.1105C>A (p.Gln369Lys) rs1049658021
NM_000057.4(BLM):c.1105C>G (p.Gln369Glu)
NM_000057.4(BLM):c.1107G>T (p.Gln369His) rs1895931307
NM_000057.4(BLM):c.1109A>C (p.Gln370Pro) rs773198283
NM_000057.4(BLM):c.1114C>A (p.Leu372Ile) rs1480729955
NM_000057.4(BLM):c.1114C>T (p.Leu372Phe) rs1480729955
NM_000057.4(BLM):c.1115T>C (p.Leu372Pro)
NM_000057.4(BLM):c.1118T>A (p.Ile373Asn) rs1060500630
NM_000057.4(BLM):c.1118T>C (p.Ile373Thr)
NM_000057.4(BLM):c.1120C>G (p.His374Asp) rs2151157246
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.1127T>C (p.Met376Thr) rs2151157273
NM_000057.4(BLM):c.1128G>A (p.Met376Ile)
NM_000057.4(BLM):c.1131G>C (p.Glu377Asp) rs764842587
NM_000057.4(BLM):c.1132_1134delinsTAT (p.His378Tyr) rs1555419713
NM_000057.4(BLM):c.1135A>G (p.Ile379Val) rs1895933431
NM_000057.4(BLM):c.1136T>G (p.Ile379Ser) rs1408233877
NM_000057.4(BLM):c.1137C>G (p.Ile379Met) rs1178783782
NM_000057.4(BLM):c.1137C>T (p.Ile379=)
NM_000057.4(BLM):c.1139G>A (p.Cys380Tyr)
NM_000057.4(BLM):c.113A>C (p.Lys38Thr) rs2151146691
NM_000057.4(BLM):c.113A>G (p.Lys38Arg) rs2151146691
NM_000057.4(BLM):c.1147A>G (p.Ile383Val) rs1895933936
NM_000057.4(BLM):c.1150G>A (p.Asp384Asn)
NM_000057.4(BLM):c.1150G>C (p.Asp384His) rs1895934142
NM_000057.4(BLM):c.1153A>G (p.Thr385Ala) rs1895934308
NM_000057.4(BLM):c.1157T>G (p.Ile386Ser) rs2151157373
NM_000057.4(BLM):c.1159C>A (p.Pro387Thr)
NM_000057.4(BLM):c.1163A>G (p.Asp388Gly)
NM_000057.4(BLM):c.1165G>C (p.Asp389His) rs746170218
NM_000057.4(BLM):c.1166A>G (p.Asp389Gly) rs1555419732
NM_000057.4(BLM):c.1169A>C (p.Lys390Thr) rs1596228946
NM_000057.4(BLM):c.1177C>T (p.Leu393Phe) rs1895935448
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.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>G (p.Gln402Arg)
NM_000057.4(BLM):c.1205A>T (p.Gln402Leu)
NM_000057.4(BLM):c.1208A>C (p.Gln403Pro)
NM_000057.4(BLM):c.1209G>C (p.Gln403His) rs1555419741
NM_000057.4(BLM):c.1211G>T (p.Arg404Leu) rs776516663
NM_000057.4(BLM):c.1214A>G (p.Asn405Ser) rs752223894
NM_000057.4(BLM):c.1217T>C (p.Ile406Thr) rs2151157512
NM_000057.4(BLM):c.1220+3A>T
NM_000057.4(BLM):c.1220G>A (p.Arg407Lys) rs1350192744
NM_000057.4(BLM):c.1221-2A>C rs1555419779
NM_000057.4(BLM):c.1221-3C>T
NM_000057.4(BLM):c.1221-7T>G
NM_000057.4(BLM):c.1221A>C (p.Arg407Ser) rs900060314
NM_000057.4(BLM):c.1221A>G (p.Arg407=) rs900060314
NM_000057.4(BLM):c.1225A>G (p.Lys409Glu)
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.1231C>G (p.Leu411Val) rs1567040779
NM_000057.4(BLM):c.1237G>C (p.Glu413Gln) rs887921909
NM_000057.4(BLM):c.1243G>C (p.Asp415His)
NM_000057.4(BLM):c.1250A>G (p.Asn417Ser) rs2151157798
NM_000057.4(BLM):c.1253A>T (p.Lys418Ile)
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.125C>T (p.Ser42Phe) rs763065919
NM_000057.4(BLM):c.1261G>T (p.Ala421Ser) rs587779879
NM_000057.4(BLM):c.1262C>G (p.Ala421Gly)
NM_000057.4(BLM):c.1267CTT[1] (p.Leu424del) rs777886082
NM_000057.4(BLM):c.1274G>A (p.Gly425Asp) rs1244225539
NM_000057.4(BLM):c.1280T>G (p.Leu427Trp)
NM_000057.4(BLM):c.1287A>C (p.Arg429Ser)
NM_000057.4(BLM):c.1287A>T (p.Arg429Ser) rs1895949043
NM_000057.4(BLM):c.1289A>T (p.Tyr430Phe)
NM_000057.4(BLM):c.1299T>A (p.Asp433Glu)
NM_000057.4(BLM):c.129_130insTAT (p.Ser43_Asp44insTyr) rs778786003
NM_000057.4(BLM):c.1304T>C (p.Leu435Pro)
NM_000057.4(BLM):c.1308T>G (p.Asp436Glu) rs140178590
NM_000057.4(BLM):c.130G>A (p.Asp44Asn)
NM_000057.4(BLM):c.130G>T (p.Asp44Tyr) rs1249086421
NM_000057.4(BLM):c.1312C>T (p.Pro438Ser)
NM_000057.4(BLM):c.1313C>T (p.Pro438Leu)
NM_000057.4(BLM):c.1319A>G (p.Glu440Gly) rs1567040910
NM_000057.4(BLM):c.131A>G (p.Asp44Gly) rs1895600607
NM_000057.4(BLM):c.1321G>A (p.Gly441Ser)
NM_000057.4(BLM):c.1322G>T (p.Gly441Val) rs2151157998
NM_000057.4(BLM):c.1330T>G (p.Cys444Gly) rs745820610
NM_000057.4(BLM):c.1331G>A (p.Cys444Tyr)
NM_000057.4(BLM):c.1331G>T (p.Cys444Phe) rs1555419834
NM_000057.4(BLM):c.1336A>G (p.Thr446Ala)
NM_000057.4(BLM):c.1336A>T (p.Thr446Ser) rs1567040932
NM_000057.4(BLM):c.1337C>T (p.Thr446Ile)
NM_000057.4(BLM):c.1339G>T (p.Gly447Trp)
NM_000057.4(BLM):c.133A>G (p.Asn45Asp)
NM_000057.4(BLM):c.1341G>T (p.Gly447=)
NM_000057.4(BLM):c.1345T>A (p.Ser449Thr) rs1895952979
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.1348A>C (p.Met450Leu)
NM_000057.4(BLM):c.1349T>A (p.Met450Lys) rs2151158079
NM_000057.4(BLM):c.1349T>C (p.Met450Thr) rs2151158079
NM_000057.4(BLM):c.134A>G (p.Asn45Ser) rs1555418242
NM_000057.4(BLM):c.1358T>C (p.Leu453Ser)
NM_000057.4(BLM):c.1360A>C (p.Asn454His)
NM_000057.4(BLM):c.1361A>G (p.Asn454Ser) rs1895953927
NM_000057.4(BLM):c.1364T>G (p.Phe455Cys)
NM_000057.4(BLM):c.1367C>T (p.Ser456Leu)
NM_000057.4(BLM):c.1369C>T (p.His457Tyr) rs1895954255
NM_000057.4(BLM):c.1370A>C (p.His457Pro)
NM_000057.4(BLM):c.1370A>G (p.His457Arg) rs2151158103
NM_000057.4(BLM):c.1372C>T (p.Leu458Phe)
NM_000057.4(BLM):c.1376C>A (p.Pro459His) rs1302320494
NM_000057.4(BLM):c.1388T>G (p.Val463Gly) rs1555419857
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.1397G>A (p.Gly466Glu) rs1567041006
NM_000057.4(BLM):c.13C>T (p.Pro5Ser) rs760982604
NM_000057.4(BLM):c.1404T>G (p.Cys468Trp) rs1236929438
NM_000057.4(BLM):c.1411A>G (p.Thr471Ala) rs2151158175
NM_000057.4(BLM):c.1421T>C (p.Leu474Pro)
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.1432G>C (p.Gly478Arg) rs1490929990
NM_000057.4(BLM):c.1433G>T (p.Gly478Val)
NM_000057.4(BLM):c.1436T>A (p.Phe479Tyr) rs1418071613
NM_000057.4(BLM):c.1437C>G (p.Phe479Leu) rs1567041060
NM_000057.4(BLM):c.1438T>C (p.Ser480Pro) rs1555419877
NM_000057.4(BLM):c.1439C>T (p.Ser480Phe) rs2151158229
NM_000057.4(BLM):c.1441G>A (p.Ala481Thr)
NM_000057.4(BLM):c.1444A>C (p.Thr482Pro)
NM_000057.4(BLM):c.1445C>A (p.Thr482Asn)
NM_000057.4(BLM):c.1448G>A (p.Arg483Lys)
NM_000057.4(BLM):c.1449G>C (p.Arg483Ser)
NM_000057.4(BLM):c.1455T>G (p.Asn485Lys) rs2151158261
NM_000057.4(BLM):c.145G>A (p.Val49Ile) rs558379347
NM_000057.4(BLM):c.1460T>C (p.Phe487Ser) rs992038495
NM_000057.4(BLM):c.1462G>A (p.Glu488Lys) rs1477193473
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.146T>C (p.Val49Ala) rs1895601341
NM_000057.4(BLM):c.1476C>G (p.Phe492Leu)
NM_000057.4(BLM):c.1476_1487del (p.Phe492_His495del) rs1895959648
NM_000057.4(BLM):c.1481C>T (p.Thr494Ile) rs751600686
NM_000057.4(BLM):c.1484A>G (p.His495Arg) rs2151158309
NM_000057.4(BLM):c.1490A>C (p.Gln497Pro) rs368547042
NM_000057.4(BLM):c.1491G>T (p.Gln497His)
NM_000057.4(BLM):c.1501G>A (p.Val501Ile) rs1596230032
NM_000057.4(BLM):c.1505G>A (p.Ser502Asn)
NM_000057.4(BLM):c.1505G>C (p.Ser502Thr) rs908599703
NM_000057.4(BLM):c.1508G>A (p.Ser503Asn) rs1352036324
NM_000057.4(BLM):c.1510A>C (p.Asn504His)
NM_000057.4(BLM):c.1515G>T (p.Trp505Cys) rs1286401716
NM_000057.4(BLM):c.1525C>A (p.Pro509Thr)
NM_000057.4(BLM):c.1526C>T (p.Pro509Leu) rs1457782246
NM_000057.4(BLM):c.1530A>T (p.Arg510Ser)
NM_000057.4(BLM):c.1532T>A (p.Leu511Gln) rs1446287900
NM_000057.4(BLM):c.1532T>G (p.Leu511Arg) rs1446287900
NM_000057.4(BLM):c.1541A>T (p.Lys514Ile) rs550463714
NM_000057.4(BLM):c.1542A>C (p.Lys514Asn)
NM_000057.4(BLM):c.1546G>A (p.Glu516Lys)
NM_000057.4(BLM):c.154G>A (p.Val52Met) rs2151146745
NM_000057.4(BLM):c.1550G>C (p.Ser517Thr) rs2151158461
NM_000057.4(BLM):c.1552T>C (p.Ser518Pro) rs1596230139
NM_000057.4(BLM):c.1553C>T (p.Ser518Phe) rs1596230143
NM_000057.4(BLM):c.1555T>G (p.Tyr519Asp) rs1895964366
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.1564G>A (p.Gly522Arg) rs1895965135
NM_000057.4(BLM):c.1573C>G (p.Leu525Val) rs2151158518
NM_000057.4(BLM):c.1579A>C (p.Ser527Arg)
NM_000057.4(BLM):c.157T>A (p.Ser53Thr) rs1555418248
NM_000057.4(BLM):c.1582_1583insTTG (p.Thr528delinsIleAla)
NM_000057.4(BLM):c.1583C>T (p.Thr528Ile) rs1596230185
NM_000057.4(BLM):c.1585G>A (p.Ala529Thr)
NM_000057.4(BLM):c.1589T>C (p.Val530Ala) rs2151158554
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>A (p.Asp532Asn)
NM_000057.4(BLM):c.1594G>C (p.Asp532His) rs753723424
NM_000057.4(BLM):c.1595A>G (p.Asp532Gly) rs1895966610
NM_000057.4(BLM):c.1596_1598del (p.Asp532_Gln533delinsGlu) rs1895966710
NM_000057.4(BLM):c.1610C>A (p.Thr537Asn) rs1555419928
NM_000057.4(BLM):c.1612G>A (p.Ala538Thr) rs1318049766
NM_000057.4(BLM):c.1618A>G (p.Ile540Val) rs1060500641
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.1624G>A (p.Asp542Asn)
NM_000057.4(BLM):c.1624G>T (p.Asp542Tyr) rs1555419932
NM_000057.4(BLM):c.1626C>A (p.Asp542Glu) rs1895968518
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.1634G>A (p.Arg545Lys)
NM_000057.4(BLM):c.164C>G (p.Ala55Gly) rs1895601835
NM_000057.4(BLM):c.164C>T (p.Ala55Val) rs1895601835
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.1675_1676delinsTT (p.Asp559Phe) rs2151158719
NM_000057.4(BLM):c.1676A>G (p.Asp559Gly) rs1596230337
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.1679A>C (p.Asp560Ala)
NM_000057.4(BLM):c.1680_1691del (p.Phe561_Asp564del)
NM_000057.4(BLM):c.1681_1682delinsGA (p.Phe561Asp) rs1895970884
NM_000057.4(BLM):c.1683TGA[4] (p.Asp566del) rs768095141
NM_000057.4(BLM):c.1683TGA[6] (p.Asp566dup) rs768095141
NM_000057.4(BLM):c.1685A>T (p.Asp562Val) rs2151158749
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.1691A>T (p.Asp564Val) rs1555419944
NM_000057.4(BLM):c.1705G>A (p.Asp569Asn)
NM_000057.4(BLM):c.1706A>G (p.Asp569Gly) rs1895971955
NM_000057.4(BLM):c.1708A>C (p.Ile570Leu) rs775758928
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.1712T>C (p.Met571Thr) rs587778109
NM_000057.4(BLM):c.1715A>C (p.His572Pro) rs763355238
NM_000057.4(BLM):c.1715A>G (p.His572Arg) rs763355238
NM_000057.4(BLM):c.1717A>C (p.Asn573His)
NM_000057.4(BLM):c.1719T>A (p.Asn573Lys) rs1895973169
NM_000057.4(BLM):c.1726G>A (p.Ala576Thr)
NM_000057.4(BLM):c.1729A>C (p.Ser577Arg) rs761955701
NM_000057.4(BLM):c.172C>A (p.Pro58Thr) rs1596217837
NM_000057.4(BLM):c.172C>T (p.Pro58Ser) rs1596217837
NM_000057.4(BLM):c.1730G>A (p.Ser577Asn) rs1567041417
NM_000057.4(BLM):c.1733A>C (p.Lys578Thr) rs2151158873
NM_000057.4(BLM):c.1733A>G (p.Lys578Arg)
NM_000057.4(BLM):c.1734A>C (p.Lys578Asn) rs1895974192
NM_000057.4(BLM):c.1734A>T (p.Lys578Asn)
NM_000057.4(BLM):c.1739C>T (p.Ser580Phe)
NM_000057.4(BLM):c.1744G>C (p.Ala582Pro)
NM_000057.4(BLM):c.1747G>T (p.Ala583Ser) rs1043484811
NM_000057.4(BLM):c.1748C>T (p.Ala583Val)
NM_000057.4(BLM):c.1753C>A (p.Gln585Lys)
NM_000057.4(BLM):c.1756C>T (p.Pro586Ser) rs1895975290
NM_000057.4(BLM):c.1761C>G (p.Ile587Met) rs2151158924
NM_000057.4(BLM):c.1770_1772dup (p.Arg591_Pro592insArg)
NM_000057.4(BLM):c.1771C>G (p.Arg591Gly)
NM_000057.4(BLM):c.1781A>T (p.Lys594Ile) rs2151158958
NM_000057.4(BLM):c.1786G>A (p.Val596Ile) rs1596230556
NM_000057.4(BLM):c.1796G>C (p.Arg599Thr)
NM_000057.4(BLM):c.1798C>T (p.Leu600Phe) rs1466022684
NM_000057.4(BLM):c.17A>C (p.Gln6Pro) rs1248128883
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.1802C>T (p.Ser601Phe) rs751951251
NM_000057.4(BLM):c.1804T>G (p.Ser602Ala) rs1895977282
NM_000057.4(BLM):c.1805C>T (p.Ser602Leu) rs2151159026
NM_000057.4(BLM):c.1808C>A (p.Ala603Asp) rs1567041486
NM_000057.4(BLM):c.1808C>G (p.Ala603Gly) rs1567041486
NM_000057.4(BLM):c.1810A>G (p.Lys604Glu)
NM_000057.4(BLM):c.1817A>T (p.Asp606Val)
NM_000057.4(BLM):c.1818C>G (p.Asp606Glu)
NM_000057.4(BLM):c.1819T>C (p.Cys607Arg)
NM_000057.4(BLM):c.1825C>T (p.Pro609Ser)
NM_000057.4(BLM):c.1826C>T (p.Pro609Leu) rs1895978264
NM_000057.4(BLM):c.182G>T (p.Arg61Ile) rs1060500644
NM_000057.4(BLM):c.1832C>T (p.Ser611Leu) rs1895978539
NM_000057.4(BLM):c.1837A>C (p.Thr613Pro)
NM_000057.4(BLM):c.1840G>A (p.Ala614Thr) rs1895978868
NM_000057.4(BLM):c.1840G>C (p.Ala614Pro)
NM_000057.4(BLM):c.1844A>G (p.Gln615Arg) rs1895978967
NM_000057.4(BLM):c.1846A>T (p.Asn616Tyr) rs1895979171
NM_000057.4(BLM):c.1849A>G (p.Ile617Val)
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.1857C>G (p.Phe619Leu)
NM_000057.4(BLM):c.1863G>C (p.Glu621Asp) rs374965438
NM_000057.4(BLM):c.1868T>C (p.Ile623Thr) rs1567041556
NM_000057.4(BLM):c.186T>A (p.Asn62Lys) rs146735953
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.1880C>T (p.Thr627Ile)
NM_000057.4(BLM):c.1882G>A (p.Asp628Asn)
NM_000057.4(BLM):c.1883-19A>G
NM_000057.4(BLM):c.1888T>A (p.Ser630Thr) rs1567042153
NM_000057.4(BLM):c.1888T>C (p.Ser630Pro) rs1567042153
NM_000057.4(BLM):c.1891G>C (p.Ala631Pro)
NM_000057.4(BLM):c.1894C>A (p.Gln632Lys) rs746857727
NM_000057.4(BLM):c.1895A>C (p.Gln632Pro) rs1896025240
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.1913A>G (p.Asn638Ser) rs587778110
NM_000057.4(BLM):c.1915C>A (p.Leu639Met)
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>T (p.His641Leu) rs2151160545
NM_000057.4(BLM):c.1927C>A (p.Arg643Ser) rs373090621
NM_000057.4(BLM):c.1928G>T (p.Arg643Leu)
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.1937G>C (p.Ser646Thr)
NM_000057.4(BLM):c.1939C>G (p.Leu647Val) rs1896027269
NM_000057.4(BLM):c.1939C>T (p.Leu647Phe) rs1896027269
NM_000057.4(BLM):c.193G>A (p.Val65Ile) rs1895603124
NM_000057.4(BLM):c.1940T>C (p.Leu647Pro) rs1555420162
NM_000057.4(BLM):c.1949C>T (p.Pro650Leu) rs2151160613
NM_000057.4(BLM):c.1958A>C (p.Lys653Thr) rs1896028357
NM_000057.4(BLM):c.1958A>T (p.Lys653Met) rs1896028357
NM_000057.4(BLM):c.1965G>C (p.Met655Ile) rs369777747
NM_000057.4(BLM):c.1966A>G (p.Met656Val) rs2151160648
NM_000057.4(BLM):c.196A>G (p.Asn66Asp)
NM_000057.4(BLM):c.1970A>T (p.Lys657Met) rs1896029053
NM_000057.4(BLM):c.1973T>C (p.Ile658Thr) rs187379039
NM_000057.4(BLM):c.1979A>G (p.His660Arg) rs1896029572
NM_000057.4(BLM):c.1987T>A (p.Phe663Ile)
NM_000057.4(BLM):c.1995G>T (p.Leu665=)
NM_000057.4(BLM):c.199G>A (p.Val67Ile) rs991350762
NM_000057.4(BLM):c.1A>G (p.Met1Val)
NM_000057.4(BLM):c.2016G>C (p.Gln672His)
NM_000057.4(BLM):c.2024C>G (p.Ala675Gly)
NM_000057.4(BLM):c.2032G>T (p.Ala678Ser)
NM_000057.4(BLM):c.2035G>A (p.Ala679Thr) rs1896031109
NM_000057.4(BLM):c.2050G>A (p.Asp684Asn) rs2151160786
NM_000057.4(BLM):c.2054G>A (p.Cys685Tyr) rs1896032110
NM_000057.4(BLM):c.2056T>C (p.Phe686Leu) rs1896032220
NM_000057.4(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000057.4(BLM):c.2060T>C (p.Ile687Thr)
NM_000057.4(BLM):c.2061C>G (p.Ile687Met) rs2151160806
NM_000057.4(BLM):c.2063T>C (p.Leu688Pro)
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.2072C>T (p.Thr691Ile) rs1896032772
NM_000057.4(BLM):c.2074+5_2074+8del
NM_000057.4(BLM):c.2075-14T>G
NM_000057.4(BLM):c.2075-3C>T rs1896091271
NM_000057.4(BLM):c.2077G>A (p.Gly693Ser) rs565078630
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.2090T>C (p.Leu697Ser) rs1896092004
NM_000057.4(BLM):c.2096A>G (p.Tyr699Cys)
NM_000057.4(BLM):c.209A>G (p.Asp70Gly) rs2151146849
NM_000057.4(BLM):c.2101C>A (p.Leu701Ile)
NM_000057.4(BLM):c.2102T>G (p.Leu701Arg) rs759414733
NM_000057.4(BLM):c.2110T>C (p.Cys704Arg)
NM_000057.4(BLM):c.2113G>C (p.Val705Leu) rs767321886
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.211T>C (p.Phe71Leu) rs2151146855
NM_000057.4(BLM):c.2122G>A (p.Gly708Arg) rs1555420390
NM_000057.4(BLM):c.2122G>C (p.Gly708Arg) rs1555420390
NM_000057.4(BLM):c.2123G>A (p.Gly708Glu) rs763559820
NM_000057.4(BLM):c.2131G>A (p.Val711Ile) rs2151162449
NM_000057.4(BLM):c.2134_2136del (p.Val712del)
NM_000057.4(BLM):c.2137A>G (p.Ile713Val) rs1896094984
NM_000057.4(BLM):c.2139T>G (p.Ile713Met) rs1896095110
NM_000057.4(BLM):c.2141C>G (p.Ser714Cys)
NM_000057.4(BLM):c.2143C>T (p.Pro715Ser) rs1060500636
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.2159T>C (p.Ile720Thr)
NM_000057.4(BLM):c.2165A>G (p.Asp722Gly) rs1896096525
NM_000057.4(BLM):c.2167C>G (p.Gln723Glu) rs2151162501
NM_000057.4(BLM):c.2170G>A (p.Val724Ile) rs1896096762
NM_000057.4(BLM):c.2171T>G (p.Val724Gly)
NM_000057.4(BLM):c.2183C>A (p.Thr728Asn) rs1567043208
NM_000057.4(BLM):c.2183C>G (p.Thr728Ser) rs1567043208
NM_000057.4(BLM):c.2185T>G (p.Ser729Ala) rs2151162523
NM_000057.4(BLM):c.2186C>T (p.Ser729Phe)
NM_000057.4(BLM):c.2191G>A (p.Asp731Asn) rs1459619445
NM_000057.4(BLM):c.2193+5G>C
NM_000057.4(BLM):c.2194A>T (p.Ile732Phe) rs1555420546
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.2206T>C (p.Tyr736His) rs2151163786
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.221G>T (p.Ser74Ile)
NM_000057.4(BLM):c.2224A>T (p.Thr742Ser) rs1596235858
NM_000057.4(BLM):c.2234A>G (p.Glu745Gly)
NM_000057.4(BLM):c.2236G>A (p.Ala746Thr) rs1896147300
NM_000057.4(BLM):c.2239A>G (p.Thr747Ala)
NM_000057.4(BLM):c.223G>C (p.Glu75Gln) rs1205667946
NM_000057.4(BLM):c.2240C>A (p.Thr747Lys)
NM_000057.4(BLM):c.2246T>C (p.Ile749Thr)
NM_000057.4(BLM):c.2251C>T (p.Leu751Phe) rs1292127075
NM_000057.4(BLM):c.2254C>A (p.Gln752Lys) rs1424485988
NM_000057.4(BLM):c.2260T>C (p.Ser754Pro) rs2151163946
NM_000057.4(BLM):c.2269G>C (p.Asp757His) rs2151163965
NM_000057.4(BLM):c.226C>T (p.Pro76Ser) rs768843912
NM_000057.4(BLM):c.2271C>A (p.Asp757Glu)
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>C (p.Ile759Thr) rs1056077835
NM_000057.4(BLM):c.2278A>G (p.Ile760Val) rs1896150112
NM_000057.4(BLM):c.2278A>T (p.Ile760Leu)
NM_000057.4(BLM):c.2283A>T (p.Lys761Asn) rs1896150452
NM_000057.4(BLM):c.2288T>A (p.Leu763Gln)
NM_000057.4(BLM):c.228_233del (p.Leu77_Pro78del) rs1555418278
NM_000057.4(BLM):c.2291A>G (p.Tyr764Cys)
NM_000057.4(BLM):c.229C>G (p.Leu77Val) rs1555418283
NM_000057.4(BLM):c.2300C>T (p.Pro767Leu)
NM_000057.4(BLM):c.2302G>A (p.Glu768Lys) rs1060500640
NM_000057.4(BLM):c.2307+1G>C
NM_000057.4(BLM):c.2307+5G>A rs1596236061
NM_000057.4(BLM):c.2307+5G>C rs1596236061
NM_000057.4(BLM):c.2307G>A (p.Lys769=)
NM_000057.4(BLM):c.2308-17A>G
NM_000057.4(BLM):c.2312G>A (p.Cys771Tyr) rs1555420831
NM_000057.4(BLM):c.2312G>T (p.Cys771Phe)
NM_000057.4(BLM):c.2314G>A (p.Ala772Thr)
NM_000057.4(BLM):c.2317A>G (p.Ser773Gly)
NM_000057.4(BLM):c.2326C>G (p.Leu776Val) rs1483824560
NM_000057.4(BLM):c.2329A>G (p.Ile777Val) rs764097842
NM_000057.4(BLM):c.232C>T (p.Pro78Ser)
NM_000057.4(BLM):c.2330T>C (p.Ile777Thr) rs2151165699
NM_000057.4(BLM):c.2331T>G (p.Ile777Met)
NM_000057.4(BLM):c.233C>G (p.Pro78Arg) rs2151146905
NM_000057.4(BLM):c.2344A>G (p.Asn782Asp)
NM_000057.4(BLM):c.2345A>G (p.Asn782Ser) rs1896223925
NM_000057.4(BLM):c.2350T>C (p.Tyr784His)
NM_000057.4(BLM):c.2351A>T (p.Tyr784Phe)
NM_000057.4(BLM):c.2359A>G (p.Lys787Glu) rs2151165751
NM_000057.4(BLM):c.2362C>G (p.Leu788Val) rs149754073
NM_000057.4(BLM):c.2362C>T (p.Leu788Phe) rs149754073
NM_000057.4(BLM):c.2368G>A (p.Ala790Thr)
NM_000057.4(BLM):c.2368G>C (p.Ala790Pro)
NM_000057.4(BLM):c.2368G>T (p.Ala790Ser) rs777355959
NM_000057.4(BLM):c.2369C>A (p.Ala790Glu)
NM_000057.4(BLM):c.2369C>T (p.Ala790Val) rs2151165767
NM_000057.4(BLM):c.2374T>G (p.Phe792Val) rs982156188
NM_000057.4(BLM):c.2375T>G (p.Phe792Cys)
NM_000057.4(BLM):c.2377G>A (p.Val793Ile) rs1198070682
NM_000057.4(BLM):c.2383G>A (p.Asp795Asn)
NM_000057.4(BLM):c.2384A>C (p.Asp795Ala)
NM_000057.4(BLM):c.2384A>G (p.Asp795Gly) rs1596238327
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.2390C>T (p.Ala797Val) rs1896226916
NM_000057.4(BLM):c.2392C>G (p.His798Asp) rs1896227131
NM_000057.4(BLM):c.2393A>G (p.His798Arg) rs1596238349
NM_000057.4(BLM):c.2393A>T (p.His798Leu) rs1596238349
NM_000057.4(BLM):c.239C>T (p.Thr80Ile) rs766303926
NM_000057.4(BLM):c.2400C>A (p.Val800=)
NM_000057.4(BLM):c.2402G>C (p.Ser801Thr) rs1348827963
NM_000057.4(BLM):c.2407-5A>G rs1555420870
NM_000057.4(BLM):c.2407T>A (p.Trp803Arg) rs148394770
NM_000057.4(BLM):c.2414A>G (p.His805Arg) rs766292814
NM_000057.4(BLM):c.2415T>A (p.His805Gln) rs1896235784
NM_000057.4(BLM):c.2419T>C (p.Phe807Leu)
NM_000057.4(BLM):c.241A>G (p.Thr81Ala) rs1060500637
NM_000057.4(BLM):c.2420T>G (p.Phe807Cys)
NM_000057.4(BLM):c.2422C>G (p.Arg808Gly)
NM_000057.4(BLM):c.2427A>G (p.Gln809=) rs1896236372
NM_000057.4(BLM):c.242C>A (p.Thr81Lys)
NM_000057.4(BLM):c.242C>G (p.Thr81Arg) rs1895606466
NM_000057.4(BLM):c.2434A>G (p.Lys812Glu) rs763827222
NM_000057.4(BLM):c.2435A>G (p.Lys812Arg)
NM_000057.4(BLM):c.2438G>C (p.Arg813Thr)
NM_000057.4(BLM):c.2441T>C (p.Met814Thr) rs1596238678
NM_000057.4(BLM):c.2442G>T (p.Met814Ile) rs1896237351
NM_000057.4(BLM):c.2445T>G (p.Asn815Lys) rs1896237458
NM_000057.4(BLM):c.2448G>A (p.Met816Ile)
NM_000057.4(BLM):c.2449C>G (p.Leu817Val)
NM_000057.4(BLM):c.244A>T (p.Asn82Tyr) rs2151146930
NM_000057.4(BLM):c.2452C>T (p.Arg818Cys) rs1279814185
NM_000057.4(BLM):c.2453G>T (p.Arg818Leu) rs780514723
NM_000057.4(BLM):c.2456A>C (p.Gln819Pro)
NM_000057.4(BLM):c.2459A>G (p.Lys820Arg) rs1896238883
NM_000057.4(BLM):c.245A>G (p.Asn82Ser) rs1555418292
NM_000057.4(BLM):c.2460G>T (p.Lys820Asn) rs1596238751
NM_000057.4(BLM):c.2465C>G (p.Pro822Arg) rs2151166181
NM_000057.4(BLM):c.2468C>G (p.Ser823Cys)
NM_000057.4(BLM):c.2476G>T (p.Val826Leu) rs1319281718
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.248A>G (p.Gln83Arg) rs377192173
NM_000057.4(BLM):c.2491G>A (p.Ala831Thr) rs2151166245
NM_000057.4(BLM):c.2491G>C (p.Ala831Pro)
NM_000057.4(BLM):c.2492C>T (p.Ala831Val)
NM_000057.4(BLM):c.2495C>T (p.Thr832Ile)
NM_000057.4(BLM):c.24T>G (p.Asn8Lys) rs1060500635
NM_000057.4(BLM):c.2501A>C (p.Asn834Thr) rs1896241238
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.2512C>A (p.Gln838Lys) rs2151166312
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.2518G>C (p.Asp840His) rs1238410843
NM_000057.4(BLM):c.2519A>C (p.Asp840Ala) rs1896242514
NM_000057.4(BLM):c.2528C>T (p.Thr843Ile) rs137853152
NM_000057.4(BLM):c.252A>C (p.Gln84His) rs370062646
NM_000057.4(BLM):c.2532G>T (p.Gln844His) rs1596238939
NM_000057.4(BLM):c.2534T>C (p.Leu845Pro)
NM_000057.4(BLM):c.2536A>G (p.Lys846Glu) rs2151166388
NM_000057.4(BLM):c.2539A>C (p.Ile847Leu) rs1896243843
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.2543T>G (p.Leu848Arg) rs2151166410
NM_000057.4(BLM):c.2548C>T (p.Pro850Ser)
NM_000057.4(BLM):c.2549C>G (p.Pro850Arg)
NM_000057.4(BLM):c.2549C>T (p.Pro850Leu) rs1896244485
NM_000057.4(BLM):c.254G>A (p.Arg85Lys)
NM_000057.4(BLM):c.2553G>C (p.Gln851His)
NM_000057.4(BLM):c.2553G>T (p.Gln851His) rs1896244976
NM_000057.4(BLM):c.2554G>C (p.Val852Leu) rs1896245090
NM_000057.4(BLM):c.2555+5del
NM_000057.4(BLM):c.2555+6T>C rs1596238993
NM_000057.4(BLM):c.2556-12G>A
NM_000057.4(BLM):c.2556-18T>G rs2151177989
NM_000057.4(BLM):c.2556-8T>A rs1567052156
NM_000057.4(BLM):c.2556G>T (p.Val852=) rs1896650229
NM_000057.4(BLM):c.2561G>T (p.Ser854Ile)
NM_000057.4(BLM):c.2563A>G (p.Met855Val) rs1567052166
NM_000057.4(BLM):c.2565G>C (p.Met855Ile)
NM_000057.4(BLM):c.256G>C (p.Val86Leu) rs1596218041
NM_000057.4(BLM):c.2572A>G (p.Asn858Asp) rs1555422355
NM_000057.4(BLM):c.2574C>T (p.Asn858=)
NM_000057.4(BLM):c.2576G>A (p.Arg859Lys)
NM_000057.4(BLM):c.2579A>G (p.His860Arg)
NM_000057.4(BLM):c.2584C>G (p.Leu862Val) rs1596250300
NM_000057.4(BLM):c.2594A>C (p.Tyr865Ser) rs777842626
NM_000057.4(BLM):c.2596G>A (p.Val866Ile) rs1316728192
NM_000057.4(BLM):c.2601A>C (p.Leu867Phe)
NM_000057.4(BLM):c.2603C>A (p.Pro868Gln) rs2227935
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.2605A>G (p.Lys869Glu)
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>G (p.Lys873Glu) rs2151178110
NM_000057.4(BLM):c.2618A>T (p.Lys873Met)
NM_000057.4(BLM):c.2620G>A (p.Val874Met) rs1896652959
NM_000057.4(BLM):c.2624C>A (p.Ala875Glu) rs1596250413
NM_000057.4(BLM):c.2629G>T (p.Asp877Tyr)
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.2633G>A (p.Cys878Tyr)
NM_000057.4(BLM):c.2639A>G (p.Glu880Gly) rs2151178151
NM_000057.4(BLM):c.2643G>C (p.Trp881Cys) rs367543039
NM_000057.4(BLM):c.2643G>T (p.Trp881Cys)
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.2653C>T (p.His885Tyr) rs2151178164
NM_000057.4(BLM):c.2656C>T (p.His886Tyr)
NM_000057.4(BLM):c.265T>A (p.Phe89Ile) rs1895607752
NM_000057.4(BLM):c.2662+3G>A rs1297020716
NM_000057.4(BLM):c.2662+6T>C
NM_000057.4(BLM):c.2663-13G>A
NM_000057.4(BLM):c.2663-5G>A rs1161787867
NM_000057.4(BLM):c.2671G>A (p.Gly891Arg)
NM_000057.4(BLM):c.2672G>A (p.Gly891Glu) rs763471784
NM_000057.4(BLM):c.2673G>T (p.Gly891=)
NM_000057.4(BLM):c.2676A>G (p.Ile892Met)
NM_000057.4(BLM):c.267C>A (p.Phe89Leu)
NM_000057.4(BLM):c.2683T>G (p.Cys895Gly) rs587779883
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.2689T>C (p.Ser897Pro) rs1896706876
NM_000057.4(BLM):c.2695C>G (p.Arg899Gly) rs587779884
NM_000057.4(BLM):c.2702G>A (p.Cys901Tyr) rs758311406
NM_000057.4(BLM):c.2702G>T (p.Cys901Phe) rs758311406
NM_000057.4(BLM):c.2705A>G (p.Asp902Gly)
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.2716G>A (p.Asp906Asn) rs2151179756
NM_000057.4(BLM):c.2718C>A (p.Asp906Glu)
NM_000057.4(BLM):c.2719A>G (p.Thr907Ala) rs2151179767
NM_000057.4(BLM):c.271A>G (p.Lys91Glu)
NM_000057.4(BLM):c.2725C>G (p.Gln909Glu) rs1456964727
NM_000057.4(BLM):c.2725_2751del (p.Gln909_Ala917del)
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.2732A>T (p.Asp911Val) rs1596252149
NM_000057.4(BLM):c.2735G>A (p.Gly912Glu) rs2151179803
NM_000057.4(BLM):c.2743G>A (p.Ala915Thr) rs1896709530
NM_000057.4(BLM):c.2743G>C (p.Ala915Pro)
NM_000057.4(BLM):c.2746C>G (p.Leu916Val) rs1424143421
NM_000057.4(BLM):c.2755C>A (p.His919Asn) rs1284859576
NM_000057.4(BLM):c.2755C>G (p.His919Asp)
NM_000057.4(BLM):c.2759C>G (p.Ala920Gly)
NM_000057.4(BLM):c.2762G>T (p.Gly921Val)
NM_000057.4(BLM):c.2768G>A (p.Ser923Asn) rs1219485932
NM_000057.4(BLM):c.2768G>C (p.Ser923Thr) rs1219485932
NM_000057.4(BLM):c.2769T>A (p.Ser923Arg)
NM_000057.4(BLM):c.2773T>G (p.Ser925Ala) rs1896710618
NM_000057.4(BLM):c.2774C>A (p.Ser925Tyr) rs2151179877
NM_000057.4(BLM):c.2774C>T (p.Ser925Phe)
NM_000057.4(BLM):c.2776G>T (p.Ala926Ser) rs1896710799
NM_000057.4(BLM):c.2779A>G (p.Arg927Gly) rs1896710903
NM_000057.4(BLM):c.277G>A (p.Ala93Thr)
NM_000057.4(BLM):c.2780G>C (p.Arg927Thr)
NM_000057.4(BLM):c.2782G>T (p.Asp928Tyr)
NM_000057.4(BLM):c.2783A>G (p.Asp928Gly) rs1896711135
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.278C>A (p.Ala93Asp) rs2151147003
NM_000057.4(BLM):c.2792A>G (p.Gln931Arg) rs1178355159
NM_000057.4(BLM):c.2797A>G (p.Lys933Glu)
NM_000057.4(BLM):c.2802G>T (p.Trp934Cys) rs2151179931
NM_000057.4(BLM):c.280C>T (p.Pro94Ser) rs1417089374
NM_000057.4(BLM):c.2814T>A (p.Asp938Glu)
NM_000057.4(BLM):c.2823G>A (p.Gln941=)
NM_000057.4(BLM):c.2824-3C>T rs2151184427
NM_000057.4(BLM):c.2824G>C (p.Val942Leu)
NM_000057.4(BLM):c.2825T>C (p.Val942Ala)
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.2837C>A (p.Thr946Lys) rs2151184440
NM_000057.4(BLM):c.2837C>T (p.Thr946Ile) rs2151184440
NM_000057.4(BLM):c.283G>A (p.Ala95Thr) rs1432459834
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.2872G>T (p.Val958Leu)
NM_000057.4(BLM):c.2873T>A (p.Val958Glu) rs1555423088
NM_000057.4(BLM):c.2875C>A (p.Arg959=) rs762354041
NM_000057.4(BLM):c.2881G>A (p.Val961Met)
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.2884A>T (p.Ile962Phe) rs1896883323
NM_000057.4(BLM):c.2887C>A (p.His963Asn)
NM_000057.4(BLM):c.2887C>T (p.His963Tyr) rs367543023
NM_000057.4(BLM):c.2890G>A (p.Ala964Thr)
NM_000057.4(BLM):c.2891C>T (p.Ala964Val)
NM_000057.4(BLM):c.2893T>A (p.Ser965Thr) rs1349078237
NM_000057.4(BLM):c.2897T>C (p.Leu966Pro)
NM_000057.4(BLM):c.2900C>A (p.Pro967His) rs2151184560
NM_000057.4(BLM):c.2900C>G (p.Pro967Arg)
NM_000057.4(BLM):c.2905T>A (p.Ser969Thr)
NM_000057.4(BLM):c.290A>C (p.Gln97Pro)
NM_000057.4(BLM):c.2911G>A (p.Glu971Lys) rs2151184569
NM_000057.4(BLM):c.2917T>A (p.Tyr973Asn) rs1555423104
NM_000057.4(BLM):c.2921A>C (p.Tyr974Ser) rs1051102270
NM_000057.4(BLM):c.2925A>T (p.Gln975His)
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.2942G>C (p.Gly981Ala)
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.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.2962C>T (p.His988Tyr) rs1896886993
NM_000057.4(BLM):c.2965T>C (p.Cys989Arg) rs1555423112
NM_000057.4(BLM):c.2966G>T (p.Cys989Phe)
NM_000057.4(BLM):c.2974T>C (p.Phe992Leu) rs2151184675
NM_000057.4(BLM):c.2980A>G (p.Thr994Ala) rs1060500632
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.2988T>G (p.His996Gln)
NM_000057.4(BLM):c.2996C>G (p.Thr999Ser) rs1567056730
NM_000057.4(BLM):c.2996C>T (p.Thr999Ile) rs1567056730
NM_000057.4(BLM):c.2999G>C (p.Arg1000Thr) rs1596257309
NM_000057.4(BLM):c.3000A>T (p.Arg1000Ser) rs1395403568
NM_000057.4(BLM):c.3010C>T (p.Leu1004Phe) rs778515103
NM_000057.4(BLM):c.3011T>A (p.Leu1004His) rs2151184755
NM_000057.4(BLM):c.3012_3014dup (p.Ile1005_Met1006insIle)
NM_000057.4(BLM):c.3013A>G (p.Ile1005Val) rs201829983
NM_000057.4(BLM):c.3014T>A (p.Ile1005Lys) rs772671554
NM_000057.4(BLM):c.3015A>G (p.Ile1005Met) rs1567056762
NM_000057.4(BLM):c.3015_3017del (p.Ile1005del) rs2151184770
NM_000057.4(BLM):c.3020-3T>C rs1896971029
NM_000057.4(BLM):c.3020-4_3020-3del rs1596259793
NM_000057.4(BLM):c.3020-7_3020-5del rs1596259785
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.3035A>G (p.Asn1012Ser) rs1896971948
NM_000057.4(BLM):c.3038A>G (p.His1013Arg) rs2151187153
NM_000057.4(BLM):c.3040C>G (p.His1014Asp) rs1896972234
NM_000057.4(BLM):c.3043A>G (p.Thr1015Ala) rs1896972529
NM_000057.4(BLM):c.3044C>A (p.Thr1015Lys)
NM_000057.4(BLM):c.3046A>G (p.Arg1016Gly) rs1596259855
NM_000057.4(BLM):c.3047G>C (p.Arg1016Thr) rs2151187181
NM_000057.4(BLM):c.3049G>C (p.Glu1017Gln)
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.3052A>G (p.Thr1018Ala) rs1896972868
NM_000057.4(BLM):c.3055C>G (p.His1019Asp)
NM_000057.4(BLM):c.3056A>C (p.His1019Pro) rs769982824
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.3078G>A (p.Met1026Ile) rs2151187237
NM_000057.4(BLM):c.3078G>T (p.Met1026Ile) rs2151187237
NM_000057.4(BLM):c.3080T>C (p.Val1027Ala) rs373868675
NM_000057.4(BLM):c.3083A>G (p.His1028Arg) rs1487267563
NM_000057.4(BLM):c.3083A>T (p.His1028Leu)
NM_000057.4(BLM):c.3088T>G (p.Cys1030Gly) rs1896974604
NM_000057.4(BLM):c.3091G>A (p.Glu1031Lys) rs1396000294
NM_000057.4(BLM):c.3092A>G (p.Glu1031Gly) rs2151187263
NM_000057.4(BLM):c.3094A>T (p.Asn1032Tyr) rs1311585637
NM_000057.4(BLM):c.3101C>A (p.Thr1034Lys) rs753652339
NM_000057.4(BLM):c.3101C>T (p.Thr1034Met) rs753652339
NM_000057.4(BLM):c.3106T>A (p.Cys1036Ser)
NM_000057.4(BLM):c.3109A>G (p.Arg1037Gly) rs2151187299
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.3116T>A (p.Ile1039Lys) rs1896976347
NM_000057.4(BLM):c.3121C>T (p.Leu1041Phe) rs1224723855
NM_000057.4(BLM):c.3128C>T (p.Ala1043Val) rs2229035
NM_000057.4(BLM):c.3131A>C (p.Tyr1044Ser)
NM_000057.4(BLM):c.3135T>G (p.Phe1045Leu)
NM_000057.4(BLM):c.3136G>C (p.Gly1046Arg) rs373241803
NM_000057.4(BLM):c.3143A>G (p.Asn1048Ser)
NM_000057.4(BLM):c.3146G>A (p.Gly1049Glu) rs2151187363
NM_000057.4(BLM):c.3148T>C (p.Phe1050Leu) rs2151187365
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.3157G>A (p.Asp1053Asn)
NM_000057.4(BLM):c.3160T>G (p.Phe1054Val) rs2151187383
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr) rs367543029
NM_000057.4(BLM):c.3167A>G (p.Lys1056Arg) rs1465842377
NM_000057.4(BLM):c.3171A>T (p.Lys1057Asn)
NM_000057.4(BLM):c.3181G>A (p.Val1061Ile)
NM_000057.4(BLM):c.3181G>T (p.Val1061Phe)
NM_000057.4(BLM):c.3188G>A (p.Cys1063Tyr) rs2151187434
NM_000057.4(BLM):c.3188G>T (p.Cys1063Phe)
NM_000057.4(BLM):c.3190G>A (p.Asp1064Asn) rs1896979510
NM_000057.4(BLM):c.3191A>G (p.Asp1064Gly) rs367543032
NM_000057.4(BLM):c.3199T>C (p.Cys1067Arg) rs1896980012
NM_000057.4(BLM):c.3200G>A (p.Cys1067Tyr) rs587779885
NM_000057.4(BLM):c.3210+3A>G
NM_000057.4(BLM):c.3210+3A>T rs2151187459
NM_000057.4(BLM):c.3211-3T>C rs1897074828
NM_000057.4(BLM):c.3212A>G (p.Asp1071Gly) rs1897075069
NM_000057.4(BLM):c.3215A>T (p.Tyr1072Phe)
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.3227A>T (p.Asp1076Val) rs1897075823
NM_000057.4(BLM):c.3228T>G (p.Asp1076Glu) rs2151190260
NM_000057.4(BLM):c.3229G>T (p.Val1077Leu) rs779096973
NM_000057.4(BLM):c.3230T>C (p.Val1077Ala)
NM_000057.4(BLM):c.3233C>G (p.Thr1078Ser) rs1897076116
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.3239A>C (p.Asp1080Ala) rs775383361
NM_000057.4(BLM):c.3239A>T (p.Asp1080Val) rs775383361
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.3247A>C (p.Ser1083Arg) rs2151190310
NM_000057.4(BLM):c.324G>T (p.Leu108Phe) rs1198433222
NM_000057.4(BLM):c.3250A>G (p.Ile1084Val)
NM_000057.4(BLM):c.3253G>T (p.Val1085Leu) rs761235042
NM_000057.4(BLM):c.3254T>G (p.Val1085Gly) rs2151190324
NM_000057.4(BLM):c.3259T>C (p.Phe1087Leu)
NM_000057.4(BLM):c.325C>T (p.Pro109Ser)
NM_000057.4(BLM):c.3260T>G (p.Phe1087Cys)
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.3263T>C (p.Val1088Ala)
NM_000057.4(BLM):c.3265C>G (p.Gln1089Glu) rs1406087403
NM_000057.4(BLM):c.326C>G (p.Pro109Arg) rs1555418317
NM_000057.4(BLM):c.3271C>A (p.His1091Asn) rs766959096
NM_000057.4(BLM):c.3272A>G (p.His1091Arg) rs750954124
NM_000057.4(BLM):c.3281C>T (p.Ser1094Leu) rs1472603091
NM_000057.4(BLM):c.3286G>A (p.Gly1096Arg) rs1334208387
NM_000057.4(BLM):c.3287G>A (p.Gly1096Glu) rs893352310
NM_000057.4(BLM):c.3287G>C (p.Gly1096Ala) rs893352310
NM_000057.4(BLM):c.3287G>T (p.Gly1096Val) rs893352310
NM_000057.4(BLM):c.328G>C (p.Asp110His)
NM_000057.4(BLM):c.328G>T (p.Asp110Tyr)
NM_000057.4(BLM):c.3297T>G (p.Asn1099Lys) rs1596263307
NM_000057.4(BLM):c.3298A>C (p.Ile1100Leu) rs1897079693
NM_000057.4(BLM):c.3299T>C (p.Ile1100Thr)
NM_000057.4(BLM):c.3304C>T (p.His1102Tyr)
NM_000057.4(BLM):c.3313C>G (p.Pro1105Ala)
NM_000057.4(BLM):c.3314C>T (p.Pro1105Leu)
NM_000057.4(BLM):c.3317C>T (p.Ser1106Phe) rs769834593
NM_000057.4(BLM):c.3320G>A (p.Gly1107Glu)
NM_000057.4(BLM):c.3324A>G (p.Arg1108=) rs1596263375
NM_000057.4(BLM):c.3324A>T (p.Arg1108Ser) rs1596263375
NM_000057.4(BLM):c.332T>C (p.Phe111Ser)
NM_000057.4(BLM):c.3332T>C (p.Met1111Thr)
NM_000057.4(BLM):c.3334A>G (p.Asn1112Asp) rs1352520577
NM_000057.4(BLM):c.3335A>G (p.Asn1112Ser) rs1897081867
NM_000057.4(BLM):c.3336T>A (p.Asn1112Lys)
NM_000057.4(BLM):c.3346G>A (p.Asp1116Asn)
NM_000057.4(BLM):c.3346G>C (p.Asp1116His) rs936749145
NM_000057.4(BLM):c.3347A>T (p.Asp1116Val)
NM_000057.4(BLM):c.3352T>G (p.Phe1118Val) rs2151190485
NM_000057.4(BLM):c.3354C>A (p.Phe1118Leu) rs1351493073
NM_000057.4(BLM):c.3357G>C (p.Leu1119Phe)
NM_000057.4(BLM):c.3358+4A>G rs1897083090
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.335T>C (p.Leu112Ser) rs1038386076
NM_000057.4(BLM):c.3362G>A (p.Ser1121Asn)
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>C (p.Ser1123Arg) rs1897212324
NM_000057.4(BLM):c.3367A>T (p.Ser1123Cys) rs1897212324
NM_000057.4(BLM):c.3371C>T (p.Ala1124Val) rs751765688
NM_000057.4(BLM):c.3381G>T (p.Gln1127His) rs1596267417
NM_000057.4(BLM):c.3383_3384delinsATATTTGTATACTT (p.Ser1128delinsTyrIleCysIleLeu) rs1596267423
NM_000057.4(BLM):c.3385G>C (p.Gly1129Arg) rs781287681
NM_000057.4(BLM):c.3386G>A (p.Gly1129Asp) rs375841213
NM_000057.4(BLM):c.3386G>T (p.Gly1129Val) rs375841213
NM_000057.4(BLM):c.3388A>C (p.Ile1130Leu)
NM_000057.4(BLM):c.3388A>G (p.Ile1130Val) rs1897213239
NM_000057.4(BLM):c.3388A>T (p.Ile1130Leu)
NM_000057.4(BLM):c.3389T>C (p.Ile1130Thr)
NM_000057.4(BLM):c.338A>G (p.Gln113Arg) rs2151147149
NM_000057.4(BLM):c.3390A>G (p.Ile1130Met)
NM_000057.4(BLM):c.3394G>C (p.Gly1132Arg)
NM_000057.4(BLM):c.3399A>C (p.Lys1133Asn)
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.3404C>A (p.Ser1135Tyr)
NM_000057.4(BLM):c.3406_3407delinsTT (p.Ala1136Phe) rs2151194224
NM_000057.4(BLM):c.3412T>G (p.Ser1138Ala)
NM_000057.4(BLM):c.3413C>T (p.Ser1138Leu)
NM_000057.4(BLM):c.3418C>T (p.His1140Tyr) rs746602812
NM_000057.4(BLM):c.3419A>G (p.His1140Arg) rs1897214323
NM_000057.4(BLM):c.3421A>C (p.Asn1141His)
NM_000057.4(BLM):c.3421A>G (p.Asn1141Asp)
NM_000057.4(BLM):c.3430A>G (p.Arg1144Gly)
NM_000057.4(BLM):c.3431G>T (p.Arg1144Ile) rs1897214758
NM_000057.4(BLM):c.3434T>C (p.Leu1145Pro) rs1596267524
NM_000057.4(BLM):c.3436T>C (p.Phe1146Leu)
NM_000057.4(BLM):c.3437T>C (p.Phe1146Ser)
NM_000057.4(BLM):c.343C>A (p.Pro115Thr) rs1173491187
NM_000057.4(BLM):c.3442A>G (p.Lys1148Glu) rs1596267545
NM_000057.4(BLM):c.3443A>C (p.Lys1148Thr) rs1897215421
NM_000057.4(BLM):c.344C>A (p.Pro115Gln)
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.3457A>G (p.Lys1153Glu) rs1897216200
NM_000057.4(BLM):c.3458A>T (p.Lys1153Met) rs1897216390
NM_000057.4(BLM):c.3460A>G (p.Ile1154Val) rs2151194288
NM_000057.4(BLM):c.3467A>T (p.Asp1156Val) rs2151194299
NM_000057.4(BLM):c.3468T>A (p.Asp1156Glu) rs1325465971
NM_000057.4(BLM):c.3472G>A (p.Asp1158Asn) rs1567062737
NM_000057.4(BLM):c.3472G>C (p.Asp1158His) rs1567062737
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.3486T>G (p.Asn1162Lys)
NM_000057.4(BLM):c.348G>C (p.Lys116Asn) rs749535664
NM_000057.4(BLM):c.3490A>G (p.Asn1164Asp) rs1897217918
NM_000057.4(BLM):c.3496C>G (p.Gln1166Glu) rs1596267627
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>G (p.Ala1167Gly) rs987150263
NM_000057.4(BLM):c.3502A>T (p.Ile1168Phe)
NM_000057.4(BLM):c.3503T>C (p.Ile1168Thr) rs1897218823
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.3512T>G (p.Val1171Gly)
NM_000057.4(BLM):c.3514A>C (p.Met1172Leu) rs745380387
NM_000057.4(BLM):c.3520G>A (p.Gly1174Arg) rs776156059
NM_000057.4(BLM):c.3521G>A (p.Gly1174Glu)
NM_000057.4(BLM):c.3524A>G (p.Asn1175Ser) rs1596267710
NM_000057.4(BLM):c.3529G>A (p.Ala1177Thr) rs1897220102
NM_000057.4(BLM):c.352G>A (p.Val118Ile)
NM_000057.4(BLM):c.3530C>T (p.Ala1177Val)
NM_000057.4(BLM):c.3533A>C (p.Gln1178Pro) rs1897220395
NM_000057.4(BLM):c.3535A>G (p.Thr1179Ala) rs1344786638
NM_000057.4(BLM):c.3545A>G (p.Asn1182Ser) rs767771169
NM_000057.4(BLM):c.3548G>C (p.Gly1183Ala)
NM_000057.4(BLM):c.3550A>G (p.Asn1184Asp) rs1463025227
NM_000057.4(BLM):c.3550A>T (p.Asn1184Tyr) rs1463025227
NM_000057.4(BLM):c.3551A>G (p.Asn1184Ser) rs1596267777
NM_000057.4(BLM):c.3557A>G (p.Lys1186Arg) rs1897221872
NM_000057.4(BLM):c.3558+5A>G
NM_000057.4(BLM):c.3558+6G>A rs2151194465
NM_000057.4(BLM):c.3559G>C (p.Val1187Leu) rs547814390
NM_000057.4(BLM):c.3560T>C (p.Val1187Ala)
NM_000057.4(BLM):c.3563A>G (p.Asp1188Gly) rs899745787
NM_000057.4(BLM):c.3574A>C (p.Thr1192Pro)
NM_000057.4(BLM):c.3580A>G (p.Asn1194Asp)
NM_000057.4(BLM):c.3582T>A (p.Asn1194Lys)
NM_000057.4(BLM):c.3584C>G (p.Ser1195Cys)
NM_000057.4(BLM):c.3586A>C (p.Ser1196Arg)
NM_000057.4(BLM):c.3589A>T (p.Ser1197Cys) rs1596268133
NM_000057.4(BLM):c.3593T>C (p.Val1198Ala)
NM_000057.4(BLM):c.3601_3603del (p.Gln1201del)
NM_000057.4(BLM):c.3604A>G (p.Lys1202Glu) rs1897233454
NM_000057.4(BLM):c.3606A>C (p.Lys1202Asn) rs1897233523
NM_000057.4(BLM):c.3608C>G (p.Ala1203Gly) rs757088548
NM_000057.4(BLM):c.3611T>C (p.Leu1204Ser)
NM_000057.4(BLM):c.3613G>C (p.Val1205Leu) rs28385141
NM_000057.4(BLM):c.3616G>A (p.Ala1206Thr) rs1897234089
NM_000057.4(BLM):c.3617C>A (p.Ala1206Glu) rs1319362226
NM_000057.4(BLM):c.3619A>G (p.Lys1207Glu)
NM_000057.4(BLM):c.3622G>A (p.Val1208Met)
NM_000057.4(BLM):c.362C>G (p.Thr121Ser) rs1567035318
NM_000057.4(BLM):c.3634G>C (p.Glu1212Gln) rs1897234496
NM_000057.4(BLM):c.3640A>T (p.Met1214Leu) rs2151194887
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.3647A>G (p.Lys1216Arg)
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.3659G>C (p.Gly1220Ala) rs1897235538
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>C (p.Glu1224Ala) rs1596268259
NM_000057.4(BLM):c.3683C>A (p.Ser1228Tyr) rs1897236482
NM_000057.4(BLM):c.3683C>G (p.Ser1228Cys) rs1897236482
NM_000057.4(BLM):c.3683C>T (p.Ser1228Phe)
NM_000057.4(BLM):c.3685C>G (p.Leu1229Val) rs1555424395
NM_000057.4(BLM):c.3694G>A (p.Val1232Ile) rs1897236925
NM_000057.4(BLM):c.369A>G (p.Gln123=) rs1895612419
NM_000057.4(BLM):c.3700G>A (p.Gly1234Ser)
NM_000057.4(BLM):c.3701G>A (p.Gly1234Asp)
NM_000057.4(BLM):c.3707A>G (p.His1236Arg)
NM_000057.4(BLM):c.370A>C (p.Asn124His) rs2151147208
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.3731T>C (p.Val1244Ala) rs771117920
NM_000057.4(BLM):c.3733A>T (p.Thr1245Ser) rs1555424403
NM_000057.4(BLM):c.373A>G (p.Thr125Ala) rs1895612811
NM_000057.4(BLM):c.3740A>G (p.Lys1247Arg)
NM_000057.4(BLM):c.3743A>T (p.Lys1248Met) rs1555424404
NM_000057.4(BLM):c.3744G>C (p.Lys1248Asn)
NM_000057.4(BLM):c.3748G>A (p.Ala1250Thr)
NM_000057.4(BLM):c.3749C>G (p.Ala1250Gly)
NM_000057.4(BLM):c.3750A>G (p.Ala1250=) rs2151195022
NM_000057.4(BLM):c.3751+3G>A
NM_000057.4(BLM):c.3751G>A (p.Glu1251Lys) rs587779888
NM_000057.4(BLM):c.3752-3C>T
NM_000057.4(BLM):c.3752-7T>G rs1897346976
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>G (p.Ser1255Cys) rs1897347737
NM_000057.4(BLM):c.3764C>T (p.Ser1255Phe) rs1897347737
NM_000057.4(BLM):c.3769C>G (p.Pro1257Ala) rs144964365
NM_000057.4(BLM):c.376C>G (p.Pro126Ala) rs587778106
NM_000057.4(BLM):c.376C>T (p.Pro126Ser) rs587778106
NM_000057.4(BLM):c.3774G>C (p.Glu1258Asp) rs1596271783
NM_000057.4(BLM):c.3775G>A (p.Val1259Ile) rs1897348236
NM_000057.4(BLM):c.3778T>G (p.Leu1260Val) rs2151198289
NM_000057.4(BLM):c.377C>G (p.Pro126Arg) rs1060500650
NM_000057.4(BLM):c.3781C>T (p.Leu1261Phe) rs1567065644
NM_000057.4(BLM):c.3785A>G (p.Gln1262Arg)
NM_000057.4(BLM):c.3786A>G (p.Gln1262=) rs1567065650
NM_000057.4(BLM):c.379A>G (p.Thr127Ala) rs528474170
NM_000057.4(BLM):c.379A>T (p.Thr127Ser)
NM_000057.4(BLM):c.3803A>T (p.Glu1268Val) rs1897348799
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.382G>A (p.Val128Ile) rs1269873284
NM_000057.4(BLM):c.3841G>A (p.Val1281Ile) rs1018540956
NM_000057.4(BLM):c.3841G>T (p.Val1281Leu)
NM_000057.4(BLM):c.3856T>C (p.Ser1286Pro) rs1897350617
NM_000057.4(BLM):c.3856T>G (p.Ser1286Ala)
NM_000057.4(BLM):c.3857C>A (p.Ser1286Tyr)
NM_000057.4(BLM):c.3857C>G (p.Ser1286Cys) rs1423327905
NM_000057.4(BLM):c.3859G>C (p.Glu1287Gln)
NM_000057.4(BLM):c.3862T>C (p.Trp1288Arg) rs1897350898
NM_000057.4(BLM):c.3871C>A (p.Pro1291Thr) rs1234718913
NM_000057.4(BLM):c.3875-5T>C rs1596273395
NM_000057.4(BLM):c.3875C>A (p.Ala1292Asp) rs1567066745
NM_000057.4(BLM):c.387G>T (p.Lys129Asn) rs2151147257
NM_000057.4(BLM):c.3880G>A (p.Asp1294Asn) rs560132774
NM_000057.4(BLM):c.3880G>T (p.Asp1294Tyr) rs560132774
NM_000057.4(BLM):c.3883A>G (p.Ser1295Gly)
NM_000057.4(BLM):c.3887C>T (p.Ser1296Phe) rs2151199713
NM_000057.4(BLM):c.3897A>G (p.Ile1299Met) rs1596273455
NM_000057.4(BLM):c.3899G>A (p.Ser1300Asn) rs1897407938
NM_000057.4(BLM):c.3899G>C (p.Ser1300Thr)
NM_000057.4(BLM):c.3900C>G (p.Ser1300Arg) rs769564626
NM_000057.4(BLM):c.3905C>T (p.Ser1302Phe) rs1897408433
NM_000057.4(BLM):c.3909C>A (p.Ser1303Arg) rs1897408551
NM_000057.4(BLM):c.3917G>A (p.Gly1306Asp) rs2151199760
NM_000057.4(BLM):c.3922G>C (p.Gly1308Arg) rs768010078
NM_000057.4(BLM):c.3923G>C (p.Gly1308Ala)
NM_000057.4(BLM):c.3928A>C (p.Ser1310Arg)
NM_000057.4(BLM):c.392C>T (p.Ser131Phe)
NM_000057.4(BLM):c.3930T>A (p.Ser1310Arg)
NM_000057.4(BLM):c.3930T>G (p.Ser1310Arg) rs886051552
NM_000057.4(BLM):c.3935C>T (p.Ala1312Val) rs2151199800
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.3944_3945delinsCT (p.Leu1315Pro) rs1567066844
NM_000057.4(BLM):c.3946G>A (p.Asp1316Asn) rs779179608
NM_000057.4(BLM):c.3948C>A (p.Asp1316Glu) rs375896520
NM_000057.4(BLM):c.3952G>A (p.Glu1318Lys)
NM_000057.4(BLM):c.3953A>G (p.Glu1318Gly) rs2151199835
NM_000057.4(BLM):c.3955A>G (p.Ile1319Val)
NM_000057.4(BLM):c.3958C>A (p.Pro1320Thr) rs1596273579
NM_000057.4(BLM):c.3958C>T (p.Pro1320Ser)
NM_000057.4(BLM):c.3959C>A (p.Pro1320His) rs2151199849
NM_000057.4(BLM):c.3961G>C (p.Val1321Leu) rs7167216
NM_000057.4(BLM):c.3961G>T (p.Val1321Leu)
NM_000057.4(BLM):c.3965C>T (p.Ser1322Phe) rs1362006078
NM_000057.4(BLM):c.3979G>A (p.Ala1327Thr)
NM_000057.4(BLM):c.3979G>T (p.Ala1327Ser) rs2151199875
NM_000057.4(BLM):c.397G>T (p.Asp133Tyr) rs762621627
NM_000057.4(BLM):c.3983G>A (p.Ser1328Asn)
NM_000057.4(BLM):c.398A>G (p.Asp133Gly) rs1895614433
NM_000057.4(BLM):c.3992G>A (p.Arg1331Lys) rs1060500648
NM_000057.4(BLM):c.3992G>C (p.Arg1331Thr)
NM_000057.4(BLM):c.3993A>C (p.Arg1331Ser)
NM_000057.4(BLM):c.3995A>T (p.Asn1332Ile)
NM_000057.4(BLM):c.4006A>G (p.Arg1336Gly) rs1897414526
NM_000057.4(BLM):c.4009A>G (p.Lys1337Glu) rs2151199902
NM_000057.4(BLM):c.4014G>C (p.Lys1338Asn)
NM_000057.4(BLM):c.4016T>G (p.Met1339Arg) rs761320085
NM_000057.4(BLM):c.4017G>A (p.Met1339Ile)
NM_000057.4(BLM):c.4021G>T (p.Ala1341Ser) rs1596273669
NM_000057.4(BLM):c.4027C>G (p.Gln1343Glu)
NM_000057.4(BLM):c.4028A>G (p.Gln1343Arg) rs2151199942
NM_000057.4(BLM):c.4037A>G (p.Lys1346Arg) rs1596273706
NM_000057.4(BLM):c.4039A>G (p.Arg1347Gly) rs1596273711
NM_000057.4(BLM):c.403G>A (p.Ala135Thr)
NM_000057.4(BLM):c.403G>C (p.Ala135Pro) rs373832397
NM_000057.4(BLM):c.4049C>G (p.Thr1350Ser)
NM_000057.4(BLM):c.4057A>G (p.Ser1353Gly)
NM_000057.4(BLM):c.4058G>A (p.Ser1353Asn) rs1897417072
NM_000057.4(BLM):c.4060_4062del (p.Gly1354del) rs2151200003
NM_000057.4(BLM):c.4061G>A (p.Gly1354Asp) rs891751726
NM_000057.4(BLM):c.4061G>T (p.Gly1354Val) rs891751726
NM_000057.4(BLM):c.4064C>T (p.Ser1355Phe)
NM_000057.4(BLM):c.4068G>C (p.Lys1356Asn) rs587779890
NM_000057.4(BLM):c.4069G>C (p.Ala1357Pro) rs587778103
NM_000057.4(BLM):c.406C>T (p.Leu136Phe)
NM_000057.4(BLM):c.4076+1G>C rs752899566
NM_000057.4(BLM):c.4076+1G>T rs752899566
NM_000057.4(BLM):c.4076+1del rs763072825
NM_000057.4(BLM):c.4076+4T>A
NM_000057.4(BLM):c.4076+4T>C rs183176301
NM_000057.4(BLM):c.4076+6T>A
NM_000057.4(BLM):c.4077-2del
NM_000057.4(BLM):c.4077-8C>G
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.4081T>C (p.Ser1361Pro)
NM_000057.4(BLM):c.4085C>G (p.Ala1362Gly) rs2151202232
NM_000057.4(BLM):c.4090T>C (p.Cys1364Arg) rs1596276396
NM_000057.4(BLM):c.4091G>A (p.Cys1364Tyr)
NM_000057.4(BLM):c.4099A>G (p.Ile1367Val)
NM_000057.4(BLM):c.40G>A (p.Glu14Lys)
NM_000057.4(BLM):c.4101A>G (p.Ile1367Met) rs1897525152
NM_000057.4(BLM):c.4102T>C (p.Ser1368Pro) rs587778104
NM_000057.4(BLM):c.4118C>A (p.Ser1373Tyr)
NM_000057.4(BLM):c.411_413del (p.Lys138del) rs1895614861
NM_000057.4(BLM):c.4121C>T (p.Ser1374Phe) rs1897526347
NM_000057.4(BLM):c.4123A>G (p.Ser1375Gly) rs1897526575
NM_000057.4(BLM):c.4123del (p.Ser1375fs) rs1555425410
NM_000057.4(BLM):c.4124G>A (p.Ser1375Asn) rs139115275
NM_000057.4(BLM):c.4124G>T (p.Ser1375Ile)
NM_000057.4(BLM):c.4136C>T (p.Ser1379Phe)
NM_000057.4(BLM):c.4138A>G (p.Ser1380Gly)
NM_000057.4(BLM):c.4139G>A (p.Ser1380Asn) rs2151202301
NM_000057.4(BLM):c.413A>G (p.Lys138Arg) rs1895615140
NM_000057.4(BLM):c.4142C>T (p.Ser1381Leu) rs1277229461
NM_000057.4(BLM):c.4150C>T (p.His1384Tyr)
NM_000057.4(BLM):c.4151A>T (p.His1384Leu)
NM_000057.4(BLM):c.4152T>A (p.His1384Gln) rs1897528380
NM_000057.4(BLM):c.4153A>G (p.Thr1385Ala) rs1382270916
NM_000057.4(BLM):c.4162G>A (p.Ala1388Thr) rs1567068979
NM_000057.4(BLM):c.4162G>C (p.Ala1388Pro) rs1567068979
NM_000057.4(BLM):c.4163C>G (p.Ala1388Gly) rs1567068992
NM_000057.4(BLM):c.4163C>T (p.Ala1388Val) rs1567068992
NM_000057.4(BLM):c.416T>C (p.Leu139Ser) rs1596218397
NM_000057.4(BLM):c.4171G>A (p.Gly1391Arg) rs2151202363
NM_000057.4(BLM):c.4172G>A (p.Gly1391Glu)
NM_000057.4(BLM):c.4175C>G (p.Ala1392Gly) rs1397394866
NM_000057.4(BLM):c.4177A>C (p.Asn1393His)
NM_000057.4(BLM):c.4178A>G (p.Asn1393Ser) rs1897529855
NM_000057.4(BLM):c.4181G>A (p.Ser1394Asn) rs2151202380
NM_000057.4(BLM):c.4193T>C (p.Ile1398Thr) rs2151202391
NM_000057.4(BLM):c.4201C>G (p.Pro1401Ala)
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.4216_4217del (p.Ile1405_Asn1406insTer) rs1567069065
NM_000057.4(BLM):c.4220G>C (p.Arg1407Thr) rs557057587
NM_000057.4(BLM):c.4221A>C (p.Arg1407Ser) rs1567069076
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.4225T>C (p.Phe1409Leu)
NM_000057.4(BLM):c.4228C>T (p.Leu1410Phe) rs1897532582
NM_000057.4(BLM):c.4229T>G (p.Leu1410Arg) rs2151202442
NM_000057.4(BLM):c.4230_4231insTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGGCACCTCGGGAGGCCGAGGCTGGCAGATCACTCGCGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACACCGTCTCCACCAAAAAAATAAATAGACCGTTTCTT (p.Leu1410_Lys1411insPhePhePhePhePhePheXaaXaaXaaXaaAlaProArgGluAlaGluAlaGlyArgSerLeuAlaValArgSerTrpArgProAlaArgProThrGlnArgAsnThrValSerThrLysLysIleAsnArgProPheLeu)
NM_000057.4(BLM):c.4231A>T (p.Lys1411Ter) rs2151202445
NM_000057.4(BLM):c.4232A>G (p.Lys1411Arg) rs1897532698
NM_000057.4(BLM):c.4232A>T (p.Lys1411Met) rs1897532698
NM_000057.4(BLM):c.4234C>A (p.Pro1412Thr) rs1249221595
NM_000057.4(BLM):c.4234C>G (p.Pro1412Ala) rs1249221595
NM_000057.4(BLM):c.4234C>T (p.Pro1412Ser)
NM_000057.4(BLM):c.4235C>T (p.Pro1412Leu)
NM_000057.4(BLM):c.4237del (p.Ser1413fs) rs1454179023
NM_000057.4(BLM):c.4239A>G (p.Ser1413=) rs1897533354
NM_000057.4(BLM):c.4241A>G (p.Tyr1414Cys)
NM_000057.4(BLM):c.4248C>G (p.Phe1416Leu) rs1567069125
NM_000057.4(BLM):c.428C>A (p.Ser143Tyr) rs1488217859
NM_000057.4(BLM):c.430T>A (p.Ser144Thr)
NM_000057.4(BLM):c.431C>T (p.Ser144Leu) rs1596218439
NM_000057.4(BLM):c.433C>G (p.Pro145Ala) rs1555418335
NM_000057.4(BLM):c.434C>A (p.Pro145Gln) rs1895616094
NM_000057.4(BLM):c.434C>G (p.Pro145Arg) rs1895616094
NM_000057.4(BLM):c.437A>C (p.Asp146Ala) rs902876126
NM_000057.4(BLM):c.437A>G (p.Asp146Gly)
NM_000057.4(BLM):c.43C>A (p.Arg15Ser) rs148545569
NM_000057.4(BLM):c.446G>A (p.Ser149Asn)
NM_000057.4(BLM):c.446G>C (p.Ser149Thr)
NM_000057.4(BLM):c.448A>G (p.Thr150Ala) rs1567035400
NM_000057.4(BLM):c.449C>T (p.Thr150Ile)
NM_000057.4(BLM):c.452T>A (p.Ile151Asn) rs2151147375
NM_000057.4(BLM):c.454A>G (p.Asn152Asp) rs2151147384
NM_000057.4(BLM):c.460T>C (p.Trp154Arg) rs1226287991
NM_000057.4(BLM):c.462G>C (p.Trp154Cys) rs2151147399
NM_000057.4(BLM):c.463G>T (p.Asp155Tyr) rs2151147403
NM_000057.4(BLM):c.469A>G (p.Met157Val) rs2151147416
NM_000057.4(BLM):c.46C>G (p.His16Asp) rs1895533888
NM_000057.4(BLM):c.46C>T (p.His16Tyr)
NM_000057.4(BLM):c.470T>G (p.Met157Arg) rs773103759
NM_000057.4(BLM):c.479T>C (p.Phe160Ser)
NM_000057.4(BLM):c.483_491del (p.Asp161_Ser163del) rs773427744
NM_000057.4(BLM):c.485C>T (p.Thr162Ile) rs1596218602
NM_000057.4(BLM):c.489T>A (p.Ser163=) rs781044650
NM_000057.4(BLM):c.491A>C (p.Glu164Ala) rs1555418365
NM_000057.4(BLM):c.492G>C (p.Glu164Asp)
NM_000057.4(BLM):c.494C>G (p.Thr165Ser)
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.507T>G (p.Phe169Leu)
NM_000057.4(BLM):c.50C>T (p.Ser17Leu) rs2151145042
NM_000057.4(BLM):c.511A>G (p.Thr171Ala) rs1895622104
NM_000057.4(BLM):c.512C>T (p.Thr171Ile)
NM_000057.4(BLM):c.514C>G (p.Pro172Ala) rs1163233988
NM_000057.4(BLM):c.514C>T (p.Pro172Ser)
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>A (p.Pro173His) rs762713320
NM_000057.4(BLM):c.518C>G (p.Pro173Arg) rs762713320
NM_000057.4(BLM):c.521A>G (p.Gln174Arg) rs1895622909
NM_000057.4(BLM):c.524G>A (p.Ser175Asn) rs2151147521
NM_000057.4(BLM):c.527A>C (p.His176Pro)
NM_000057.4(BLM):c.532G>A (p.Val178Ile) rs1191794374
NM_000057.4(BLM):c.53C>T (p.Ala18Val)
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.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.564G>C (p.Lys188Asn) rs1596218841
NM_000057.4(BLM):c.565G>A (p.Gly189Ser) rs1180631656
NM_000057.4(BLM):c.566G>T (p.Gly189Val)
NM_000057.4(BLM):c.568A>G (p.Lys190Glu) rs1895626152
NM_000057.4(BLM):c.56G>A (p.Arg19Lys) rs2151145055
NM_000057.4(BLM):c.570G>T (p.Lys190Asn) rs2151147630
NM_000057.4(BLM):c.574A>T (p.Asn192Tyr) rs2151147636
NM_000057.4(BLM):c.578T>G (p.Phe193Cys)
NM_000057.4(BLM):c.57A>T (p.Arg19Ser) rs1555418008
NM_000057.4(BLM):c.582T>A (p.Phe194Leu) rs1895626638
NM_000057.4(BLM):c.586G>A (p.Ala196Thr) rs1567035597
NM_000057.4(BLM):c.586G>C (p.Ala196Pro)
NM_000057.4(BLM):c.587C>A (p.Ala196Glu) rs1895626846
NM_000057.4(BLM):c.592C>G (p.Leu198Val) rs1346738369
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.601A>G (p.Thr201Ala) rs1895627520
NM_000057.4(BLM):c.604A>C (p.Asn202His)
NM_000057.4(BLM):c.605A>T (p.Asn202Ile) rs1596218921
NM_000057.4(BLM):c.608C>G (p.Thr203Arg)
NM_000057.4(BLM):c.60_61delinsTG (p.Leu21Val)
NM_000057.4(BLM):c.613A>G (p.Lys205Glu)
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.615G>T (p.Lys205Asn) rs28903082
NM_000057.4(BLM):c.617C>A (p.Thr206Asn)
NM_000057.4(BLM):c.617C>T (p.Thr206Ile)
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.624G>T (p.Leu208Phe)
NM_000057.4(BLM):c.633CTC[1] (p.Ser213del) rs760096957
NM_000057.4(BLM):c.637T>C (p.Ser213Pro)
NM_000057.4(BLM):c.63TAA[2] (p.Asn23del)
NM_000057.4(BLM):c.64A>G (p.Asn22Asp) rs1370338581
NM_000057.4(BLM):c.650A>C (p.Gln217Pro) rs1895630967
NM_000057.4(BLM):c.651A>C (p.Gln217His) rs1258361408
NM_000057.4(BLM):c.653T>C (p.Ile218Thr)
NM_000057.4(BLM):c.655G>C (p.Asp219His) rs190228320
NM_000057.4(BLM):c.656A>C (p.Asp219Ala) rs1246909789
NM_000057.4(BLM):c.656A>T (p.Asp219Val)
NM_000057.4(BLM):c.658T>A (p.Leu220Met)
NM_000057.4(BLM):c.661A>T (p.Thr221Ser) rs1895631812
NM_000057.4(BLM):c.662C>A (p.Thr221Asn) rs1407804704
NM_000057.4(BLM):c.662C>G (p.Thr221Ser)
NM_000057.4(BLM):c.667G>A (p.Glu223Lys) rs761533210
NM_000057.4(BLM):c.668A>G (p.Glu223Gly) rs1895632421
NM_000057.4(BLM):c.672G>C (p.Gln224His) rs1596219135
NM_000057.4(BLM):c.676G>T (p.Asp226Tyr) rs2151147916
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>A (p.Glu229Lys) rs1555418428
NM_000057.4(BLM):c.685G>C (p.Glu229Gln) rs1555418428
NM_000057.4(BLM):c.687A>C (p.Glu229Asp)
NM_000057.4(BLM):c.690G>T (p.Trp230Cys) rs1895633501
NM_000057.4(BLM):c.695G>A (p.Ser232Asn)
NM_000057.4(BLM):c.701A>G (p.Asp234Gly)
NM_000057.4(BLM):c.701A>T (p.Asp234Val) rs1895634297
NM_000057.4(BLM):c.702T>G (p.Asp234Glu) rs1271054585
NM_000057.4(BLM):c.703G>A (p.Val235Met) rs765696829
NM_000057.4(BLM):c.706A>C (p.Ile236Leu) rs2151148002
NM_000057.4(BLM):c.707T>C (p.Ile236Thr) rs1895634770
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>C (p.Asp239Ala)
NM_000057.4(BLM):c.716A>T (p.Asp239Val) rs751699247
NM_000057.4(BLM):c.719A>G (p.Asp240Gly) rs757324067
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.731C>T (p.Ala244Val)
NM_000057.4(BLM):c.733G>A (p.Glu245Lys) rs772711706
NM_000057.4(BLM):c.734A>T (p.Glu245Val)
NM_000057.4(BLM):c.736G>C (p.Val246Leu) rs1895637254
NM_000057.4(BLM):c.739C>T (p.His247Tyr)
NM_000057.4(BLM):c.742A>G (p.Ile248Val) rs558524280
NM_000057.4(BLM):c.742A>T (p.Ile248Leu) rs558524280
NM_000057.4(BLM):c.743T>C (p.Ile248Thr)
NM_000057.4(BLM):c.745A>G (p.Asn249Asp)
NM_000057.4(BLM):c.74T>C (p.Leu25Ser) rs1895534883
NM_000057.4(BLM):c.752A>G (p.Asp251Gly) rs1555418456
NM_000057.4(BLM):c.752A>T (p.Asp251Val) rs1555418456
NM_000057.4(BLM):c.754G>A (p.Ala252Thr) rs1895638377
NM_000057.4(BLM):c.754G>C (p.Ala252Pro)
NM_000057.4(BLM):c.760G>C (p.Glu254Gln) rs181892828
NM_000057.4(BLM):c.764G>C (p.Ser255Thr)
NM_000057.4(BLM):c.768C>A (p.Asp256Glu)
NM_000057.4(BLM):c.772C>A (p.Leu258Met) rs1895639952
NM_000057.4(BLM):c.778A>T (p.Thr260Ser)
NM_000057.4(BLM):c.779C>A (p.Thr260Asn) rs2151148184
NM_000057.4(BLM):c.781C>T (p.His261Tyr) rs1895640326
NM_000057.4(BLM):c.782A>G (p.His261Arg) rs763166861
NM_000057.4(BLM):c.793G>C (p.Glu265Gln) rs751718191
NM_000057.4(BLM):c.794A>G (p.Glu265Gly) rs907073579
NM_000057.4(BLM):c.796A>G (p.Arg266Gly) rs1895641246
NM_000057.4(BLM):c.799+4A>C rs1895641639
NM_000057.4(BLM):c.799+4_799+5delinsCA rs1895641733
NM_000057.4(BLM):c.799+5C>A
NM_000057.4(BLM):c.79C>T (p.Leu27Phe)
NM_000057.4(BLM):c.7G>A (p.Ala3Thr) rs1895531822
NM_000057.4(BLM):c.800-13T>A
NM_000057.4(BLM):c.800-6C>A rs2151149470
NM_000057.4(BLM):c.806G>A (p.Ser269Asn) rs2151149490
NM_000057.4(BLM):c.809A>G (p.Glu270Gly) rs1895690744
NM_000057.4(BLM):c.811A>G (p.Lys271Glu) rs1895690937
NM_000057.4(BLM):c.813GAA[2] (p.Lys273del) rs587779895
NM_000057.4(BLM):c.813GAA[4] (p.Lys273dup) rs587779895
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.827A>G (p.Glu276Gly) rs2151149556
NM_000057.4(BLM):c.833C>T (p.Ala278Val) rs1895692100
NM_000057.4(BLM):c.841C>A (p.His281Asn)
NM_000057.4(BLM):c.841C>T (p.His281Tyr)
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.848C>G (p.Thr283Ser) rs1567036612
NM_000057.4(BLM):c.853A>G (p.Lys285Glu)
NM_000057.4(BLM):c.856G>A (p.Val286Ile)
NM_000057.4(BLM):c.856G>T (p.Val286Phe) rs758301305
NM_000057.4(BLM):c.857T>C (p.Val286Ala)
NM_000057.4(BLM):c.859C>A (p.Pro287Thr) rs746748670
NM_000057.4(BLM):c.862T>A (p.Cys288Ser) rs2151149624
NM_000057.4(BLM):c.862T>G (p.Cys288Gly)
NM_000057.4(BLM):c.863G>C (p.Cys288Ser) rs1260150929
NM_000057.4(BLM):c.865A>G (p.Ile289Val) rs1895693953
NM_000057.4(BLM):c.874G>C (p.Asp292His)
NM_000057.4(BLM):c.874GAT[3] (p.Asp295del) rs1208432656
NM_000057.4(BLM):c.874GAT[5] (p.Asp295dup) rs1208432656
NM_000057.4(BLM):c.881A>G (p.Asp294Gly) rs1895694767
NM_000057.4(BLM):c.883G>A (p.Asp295Asn) rs146096923
NM_000057.4(BLM):c.883G>T (p.Asp295Tyr) rs146096923
NM_000057.4(BLM):c.885T>A (p.Asp295Glu) rs2151149661
NM_000057.4(BLM):c.886T>C (p.Tyr296His) 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.889G>T (p.Asp297Tyr)
NM_000057.4(BLM):c.895G>A (p.Asp299Asn)
NM_000057.4(BLM):c.899T>C (p.Phe300Ser)
NM_000057.4(BLM):c.905C>T (p.Pro302Leu) rs1895696337
NM_000057.4(BLM):c.907C>T (p.Pro303Ser)
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.917A>G (p.Glu306Gly) rs2151149738
NM_000057.4(BLM):c.922A>G (p.Ile308Val) rs1596221274
NM_000057.4(BLM):c.925A>G (p.Ile309Val)
NM_000057.4(BLM):c.926T>C (p.Ile309Thr) rs1895697384
NM_000057.4(BLM):c.932C>T (p.Ala311Val)
NM_000057.4(BLM):c.933TTC[2] (p.Ser316del) rs564966225
NM_000057.4(BLM):c.934T>A (p.Ser312Thr) rs372454889
NM_000057.4(BLM):c.941C>T (p.Ser314Phe)
NM_000057.4(BLM):c.943T>G (p.Ser315Ala)
NM_000057.4(BLM):c.944C>T (p.Ser315Phe) rs1895698325
NM_000057.4(BLM):c.952T>C (p.Cys318Arg)
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.959+2_959+3insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC
NM_000057.4(BLM):c.959G>C (p.Ser320Thr) rs757112333
NM_000057.4(BLM):c.962C>T (p.Thr321Met)
NM_000057.4(BLM):c.967A>C (p.Lys323Gln) rs2151152050
NM_000057.4(BLM):c.972C>A (p.Asp324Glu)
NM_000057.4(BLM):c.976G>A (p.Asp326Asn) rs1013220474
NM_000057.4(BLM):c.976G>T (p.Asp326Tyr)
NM_000057.4(BLM):c.978C>A (p.Asp326Glu)
NM_000057.4(BLM):c.98+2_98+3insCT
NM_000057.4(BLM):c.98+2dup rs1555418016
NM_000057.4(BLM):c.98+3_98+6del rs1555418015
NM_000057.4(BLM):c.980C>A (p.Thr327Asn) rs748581308
NM_000057.4(BLM):c.980C>G (p.Thr327Ser) rs748581308
NM_000057.4(BLM):c.980C>T (p.Thr327Ile)
NM_000057.4(BLM):c.982T>G (p.Ser328Ala) rs2151152087
NM_000057.4(BLM):c.983C>T (p.Ser328Phe) rs2151152099
NM_000057.4(BLM):c.985G>A (p.Asp329Asn) rs1895774818
NM_000057.4(BLM):c.985G>C (p.Asp329His) rs1895774818
NM_000057.4(BLM):c.988A>G (p.Arg330Gly)
NM_000057.4(BLM):c.991A>G (p.Lys331Glu) rs1596223773
NM_000057.4(BLM):c.994G>C (p.Glu332Gln) rs1596223780
NM_000057.4(BLM):c.995A>T (p.Glu332Val) rs2151152146
NM_000057.4(BLM):c.997G>T (p.Asp333Tyr) rs1567037944

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