ClinVar Miner

List of variants in gene BLM studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3490
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HGVS dbSNP gnomAD frequency
NM_000057.4(BLM):c.2555+7T>C rs3815003 0.37072
NM_000057.4(BLM):c.3102G>A (p.Thr1034=) rs2227933 0.17570
NM_000057.4(BLM):c.3358+32T>G rs17273842 0.16733
NM_000057.4(BLM):c.2308-50G>A rs17273206 0.16462
NM_000057.4(BLM):c.3945C>T (p.Leu1315=) rs1063147 0.15526
NM_000057.4(BLM):c.3531C>A (p.Ala1177=) rs2227934 0.15517
NM_000057.4(BLM):c.3961G>A (p.Val1321Ile) rs7167216 0.08093
NM_000057.4(BLM):c.2193+61G>C rs28385029 0.07054
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06742
NM_000057.4(BLM):c.419A>G (p.Glu140Gly) rs35886055 0.00958
NM_000057.4(BLM):c.*108C>T rs28363374 0.00823
NM_000057.4(BLM):c.2824-221G>A rs28385073 0.00807
NM_000057.4(BLM):c.2075-12G>T rs28385027 0.00541
NM_000057.4(BLM):c.3960C>T (p.Pro1320=) rs56009845 0.00502
NM_000057.4(BLM):c.615G>A (p.Lys205=) rs28903082 0.00496
NM_000057.4(BLM):c.4076+4T>G rs183176301 0.00436
NM_000057.4(BLM):c.410A>G (p.Lys137Arg) rs28384988 0.00434
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp) rs2229035 0.00421
NM_000057.4(BLM):c.1122T>C (p.His374=) rs28385009 0.00382
NM_000057.4(BLM):c.1722A>G (p.Leu574=) rs28385011 0.00379
NM_000057.4(BLM):c.3020-66T>C rs28385101 0.00379
NM_000057.4(BLM):c.893C>T (p.Thr298Met) rs28384991 0.00346
NM_000057.4(BLM):c.2160C>T (p.Ile720=) rs28385028 0.00303
NM_000057.4(BLM):c.1088-40T>C rs184128669 0.00278
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00278
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141 0.00245
NM_000057.4(BLM):c.2075-14T>C rs28385026 0.00240
NM_000057.4(BLM):c.4077-10C>T rs145310008 0.00233
NM_000057.4(BLM):c.254G>C (p.Arg85Thr) rs141503266 0.00213
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918 0.00172
NM_000057.4(BLM):c.2268A>G (p.Lys756=) rs146013879 0.00163
NM_000057.4(BLM):c.-5+16G>C rs547768822 0.00150
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229 0.00140
NM_000057.4(BLM):c.*77T>A rs116293756 0.00133
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886 0.00115
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00102
NM_000057.4(BLM):c.3879A>G (p.Glu1293=) rs28377085 0.00098
NM_000057.4(BLM):c.3359-13A>G rs200250931 0.00093
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) rs35224686 0.00092
NM_000057.4(BLM):c.3592G>A (p.Val1198Met) rs142928725 0.00090
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile) rs149754073 0.00086
NM_000057.4(BLM):c.2919C>T (p.Tyr973=) rs181161119 0.00066
NM_000057.4(BLM):c.968A>G (p.Lys323Arg) rs146504061 0.00056
NM_000057.4(BLM):c.465T>C (p.Asp155=) rs185349681 0.00051
NM_000057.4(BLM):c.3020-15C>T rs200210516 0.00047
NM_000057.4(BLM):c.645C>T (p.Ser215=) rs56218710 0.00045
NM_000057.4(BLM):c.1883-17G>A rs376931510 0.00044
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180 0.00043
NM_000057.4(BLM):c.3813G>A (p.Leu1271=) rs376082823 0.00039
NM_000057.4(BLM):c.816G>A (p.Lys272=) rs139295905 0.00038
NM_000057.4(BLM):c.1467G>A (p.Arg489=) rs56257041 0.00034
NM_000057.4(BLM):c.759G>A (p.Gln253=) rs34580216 0.00034
NM_000057.4(BLM):c.780T>C (p.Thr260=) rs55763079 0.00034
NM_000057.4(BLM):c.3041A>G (p.His1014Arg) rs145022945 0.00032
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256 0.00031
NM_000057.4(BLM):c.2115T>C (p.Val705=) rs142787700 0.00029
NM_000057.4(BLM):c.43C>T (p.Arg15Cys) rs148545569 0.00029
NM_000057.4(BLM):c.191A>T (p.Asp64Val) rs140382474 0.00026
NM_000057.4(BLM):c.1883-19A>C rs200507632 0.00025
NM_000057.4(BLM):c.2838A>G (p.Thr946=) rs200850440 0.00025
NM_000057.4(BLM):c.3225A>G (p.Arg1075=) rs7171673 0.00024
NM_000057.4(BLM):c.174T>C (p.Pro58=) rs576862402 0.00023
NM_000057.4(BLM):c.4220G>A (p.Arg1407Lys) rs557057587 0.00023
NM_000057.4(BLM):c.-65C>T rs577293550 0.00019
NM_000057.4(BLM):c.1927C>T (p.Arg643Cys) rs373090621 0.00018
NM_000057.4(BLM):c.807C>T (p.Ser269=) rs147850738 0.00018
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_000057.4(BLM):c.3397A>G (p.Lys1133Glu) rs145027663 0.00016
NM_000057.4(BLM):c.3751+10C>T rs199685140 0.00016
NM_000057.4(BLM):c.274A>G (p.Asn92Asp) rs200690226 0.00015
NM_000057.4(BLM):c.1702G>C (p.Glu568Gln) rs1360373872 0.00014
NM_000057.4(BLM):c.842A>C (p.His281Pro) rs202042636 0.00014
NM_000057.4(BLM):c.-70G>T rs552669203 0.00013
NM_000057.4(BLM):c.1519G>A (p.Glu507Lys) rs192491153 0.00013
NM_000057.4(BLM):c.3044C>T (p.Thr1015Ile) rs202196488 0.00013
NM_000057.4(BLM):c.3828G>A (p.Ala1276=) rs369383272 0.00013
NM_000057.4(BLM):c.4113G>A (p.Thr1371=) rs61754135 0.00013
NM_000057.4(BLM):c.*142T>C rs1040068612 0.00012
NM_000057.4(BLM):c.1087G>A (p.Ala363Thr) rs200364297 0.00012
NM_000057.4(BLM):c.2194-13C>T rs746930460 0.00012
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys) rs139610577 0.00012
NM_000057.4(BLM):c.1086C>T (p.Asp362=) rs375632163 0.00011
NM_000057.4(BLM):c.1097T>C (p.Ile366Thr) rs571152089 0.00011
NM_000057.4(BLM):c.1315A>G (p.Met439Val) rs201231857 0.00011
NM_000057.4(BLM):c.2638G>C (p.Glu880Gln) rs201770808 0.00011
NM_000057.4(BLM):c.2598A>T (p.Val866=) rs574053990 0.00010
NM_000057.4(BLM):c.2839A>G (p.Ile947Val) rs189925962 0.00010
NM_000057.4(BLM):c.3426C>T (p.Ala1142=) rs147148171 0.00010
NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly) rs150631940 0.00010
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter) rs373525781 0.00009
NM_000057.4(BLM):c.2293G>A (p.Val765Ile) rs191789336 0.00009
NM_000057.4(BLM):c.2739C>T (p.Leu913=) rs759223856 0.00009
NM_000057.4(BLM):c.1088-14T>C rs781351856 0.00008
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.664G>A (p.Glu222Lys) rs774075577 0.00008
NM_000057.4(BLM):c.1495T>A (p.Ser499Thr) rs371965329 0.00007
NM_000057.4(BLM):c.178T>A (p.Leu60Ile) rs138542210 0.00007
NM_000057.4(BLM):c.2720C>T (p.Thr907Met) rs367953471 0.00007
NM_000057.4(BLM):c.2856G>A (p.Gly952=) rs140559841 0.00007
NM_000057.4(BLM):c.3358G>A (p.Gly1120Arg) rs139773499 0.00007
NM_000057.4(BLM):c.3751+9A>C rs774368488 0.00007
NM_000057.4(BLM):c.1044G>A (p.Met348Ile) rs184657475 0.00006
NM_000057.4(BLM):c.114A>G (p.Lys38=) rs770017301 0.00006
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.2194-11T>G rs8038505 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.2407-6A>G rs1478497820 0.00006
NM_000057.4(BLM):c.2475G>A (p.Pro825=) rs147587050 0.00006
NM_000057.4(BLM):c.2555+14C>T rs372929243 0.00006
NM_000057.4(BLM):c.2619G>C (p.Lys873Asn) rs146723808 0.00006
NM_000057.4(BLM):c.2877A>C (p.Arg959=) rs773582992 0.00006
NM_000057.4(BLM):c.2898C>G (p.Leu966=) rs201220226 0.00006
NM_000057.4(BLM):c.3062A>G (p.Asn1021Ser) rs369629509 0.00006
NM_000057.4(BLM):c.3071A>G (p.Tyr1024Cys) rs201676342 0.00006
NM_000057.4(BLM):c.3558+1G>T rs148969222 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.4186T>C (p.Leu1396=) rs376734461 0.00006
NM_000057.4(BLM):c.450C>T (p.Thr150=) rs148861300 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.1194C>T (p.Asn398=) rs202103556 0.00005
NM_000057.4(BLM):c.1261G>A (p.Ala421Thr) rs587779879 0.00005
NM_000057.4(BLM):c.1881T>C (p.Thr627=) rs148678729 0.00005
NM_000057.4(BLM):c.1924G>A (p.Glu642Lys) rs201458487 0.00005
NM_000057.4(BLM):c.2025G>A (p.Ala675=) rs781424357 0.00005
NM_000057.4(BLM):c.2049A>G (p.Glu683=) rs201440695 0.00005
NM_000057.4(BLM):c.2599T>C (p.Leu867=) rs370713907 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.3359-12T>A rs370837480 0.00005
NM_000057.4(BLM):c.361A>C (p.Thr121Pro) rs774608080 0.00005
NM_000057.4(BLM):c.368A>G (p.Gln123Arg) rs371223446 0.00005
NM_000057.4(BLM):c.371A>G (p.Asn124Ser) rs770825975 0.00005
NM_000057.4(BLM):c.4077-5T>C rs200653178 0.00005
NM_000057.4(BLM):c.4224G>A (p.Pro1408=) rs774367622 0.00005
NM_000057.4(BLM):c.934T>G (p.Ser312Ala) rs372454889 0.00005
NM_000057.4(BLM):c.1221-8C>T rs1895945158 0.00004
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.1883-13A>G rs575410334 0.00004
NM_000057.4(BLM):c.201T>C (p.Val67=) rs563887813 0.00004
NM_000057.4(BLM):c.2074+20A>G rs375831667 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.2515A>G (p.Lys839Glu) rs201427280 0.00004
NM_000057.4(BLM):c.2555+19C>G rs769922498 0.00004
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884 0.00004
NM_000057.4(BLM):c.2696G>A (p.Arg899Gln) rs748054605 0.00004
NM_000057.4(BLM):c.2721G>A (p.Thr907=) rs1009065257 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.3117A>G (p.Ile1039Met) rs576199850 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.-29C>T rs886051549 0.00003
NM_000057.4(BLM):c.1100G>A (p.Ser367Asn) rs772176483 0.00003
NM_000057.4(BLM):c.1245T>C (p.Asp415=) rs768154708 0.00003
NM_000057.4(BLM):c.129A>G (p.Ser43=) rs767605181 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.1563A>G (p.Pro521=) rs763118109 0.00003
NM_000057.4(BLM):c.1936A>G (p.Ser646Gly) rs370293537 0.00003
NM_000057.4(BLM):c.2106T>A (p.Pro702=) rs529421306 0.00003
NM_000057.4(BLM):c.2210_2211insA (p.Thr738fs) rs758886088 0.00003
NM_000057.4(BLM):c.2212_2213insTTC (p.Thr738delinsIlePro) rs780538610 0.00003
NM_000057.4(BLM):c.2307+13A>G rs371859766 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.3210+2del rs587779886 0.00003
NM_000057.4(BLM):c.3422A>G (p.Asn1141Ser) rs770370129 0.00003
NM_000057.4(BLM):c.345G>A (p.Pro115=) rs374578971 0.00003
NM_000057.4(BLM):c.3501G>A (p.Ala1167=) rs752559933 0.00003
NM_000057.4(BLM):c.3729C>T (p.Thr1243=) rs747293738 0.00003
NM_000057.4(BLM):c.3921C>T (p.Pro1307=) rs149286215 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.799+16T>G rs370608122 0.00003
NM_000057.4(BLM):c.820A>G (p.Asn274Asp) rs750551907 0.00003
NM_000057.4(BLM):c.98+1G>C rs750293380 0.00003
NM_000057.4(BLM):c.1134C>T (p.His378=) rs757896754 0.00002
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.1220+14C>T rs762528536 0.00002
NM_000057.4(BLM):c.1220+9A>G rs775121844 0.00002
NM_000057.4(BLM):c.1235C>T (p.Thr412Met) rs775209685 0.00002
NM_000057.4(BLM):c.1236G>A (p.Thr412=) rs762617509 0.00002
NM_000057.4(BLM):c.124T>C (p.Ser42Pro) rs1291378382 0.00002
NM_000057.4(BLM):c.1308T>C (p.Asp436=) rs140178590 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.2098C>T (p.Gln700Ter) rs367543028 0.00002
NM_000057.4(BLM):c.2171T>C (p.Val724Ala) rs750687788 0.00002
NM_000057.4(BLM):c.2194-14A>G rs778980650 0.00002
NM_000057.4(BLM):c.2350T>A (p.Tyr784Asn) rs779746222 0.00002
NM_000057.4(BLM):c.2407-9T>C rs749544427 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.2655C>T (p.His885=) rs1404506326 0.00002
NM_000057.4(BLM):c.2795A>G (p.Gln932Arg) rs1427273201 0.00002
NM_000057.4(BLM):c.2823+16A>C rs375317070 0.00002
NM_000057.4(BLM):c.2871C>T (p.Asp957=) rs878853554 0.00002
NM_000057.4(BLM):c.3019+11C>A rs776916080 0.00002
NM_000057.4(BLM):c.3019+17T>C rs532036885 0.00002
NM_000057.4(BLM):c.3019+7T>C rs761087545 0.00002
NM_000057.4(BLM):c.3028del (p.Asp1010fs) rs780379121 0.00002
NM_000057.4(BLM):c.3237C>T (p.Asp1079=) rs148237075 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.3415C>T (p.Arg1139Ter) rs587783037 0.00002
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter) rs770311534 0.00002
NM_000057.4(BLM):c.3504C>T (p.Ile1168=) rs758199564 0.00002
NM_000057.4(BLM):c.3558+15A>G rs557695835 0.00002
NM_000057.4(BLM):c.3559-13C>G rs368473682 0.00002
NM_000057.4(BLM):c.3751G>C (p.Glu1251Gln) rs587779888 0.00002
NM_000057.4(BLM):c.3760T>G (p.Ser1254Ala) rs781396294 0.00002
NM_000057.4(BLM):c.3770C>T (p.Pro1257Leu) rs372134818 0.00002
NM_000057.4(BLM):c.3926G>C (p.Arg1309Thr) rs1280067298 0.00002
NM_000057.4(BLM):c.3949G>A (p.Glu1317Lys) rs730880251 0.00002
NM_000057.4(BLM):c.3951G>A (p.Glu1317=) rs138188609 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.4128C>T (p.Ile1376=) rs1314592673 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.670C>T (p.Gln224Ter) rs918752814 0.00002
NM_000057.4(BLM):c.792T>C (p.Asp264=) rs764442592 0.00002
NM_000057.4(BLM):c.820A>T (p.Asn274Tyr) rs750551907 0.00002
NM_000057.4(BLM):c.894G>A (p.Thr298=) rs762144355 0.00002
NM_000057.4(BLM):c.914C>G (p.Pro305Arg) rs773421970 0.00002
NM_000057.4(BLM):c.918A>G (p.Glu306=) rs760806762 0.00002
NM_000057.4(BLM):c.963G>A (p.Thr321=) rs779461745 0.00002
NM_000057.4(BLM):c.*14A>G rs746586885 0.00001
NM_000057.4(BLM):c.-59T>A rs1438250598 0.00001
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.1038G>A (p.Glu346=) rs1181692024 0.00001
NM_000057.4(BLM):c.1039A>G (p.Lys347Glu) rs375250788 0.00001
NM_000057.4(BLM):c.1054G>T (p.Glu352Ter) rs369583279 0.00001
NM_000057.4(BLM):c.106A>G (p.Thr36Ala) rs1714362154 0.00001
NM_000057.4(BLM):c.1088-15A>G rs757626398 0.00001
NM_000057.4(BLM):c.1088-20A>G rs1895929728 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.1191G>C (p.Gly397=) rs780393464 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+17C>T rs763676199 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.1266T>C (p.Ser422=) rs1895947616 0.00001
NM_000057.4(BLM):c.1275C>A (p.Gly425=) rs1475915995 0.00001
NM_000057.4(BLM):c.1277C>T (p.Ser426Leu) rs768127491 0.00001
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter) rs1057516964 0.00001
NM_000057.4(BLM):c.1288T>C (p.Tyr430His) rs1314473930 0.00001
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter) rs754203833 0.00001
NM_000057.4(BLM):c.1303C>T (p.Leu435Phe) rs755256088 0.00001
NM_000057.4(BLM):c.1305T>C (p.Leu435=) rs778967807 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.1419C>T (p.Thr473=) rs200051680 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.1482C>A (p.Thr494=) rs1596229985 0.00001
NM_000057.4(BLM):c.1486T>C (p.Leu496=) rs1596229989 0.00001
NM_000057.4(BLM):c.1490A>G (p.Gln497Arg) rs368547042 0.00001
NM_000057.4(BLM):c.1496C>T (p.Ser499Phe) rs778700833 0.00001
NM_000057.4(BLM):c.1497C>T (p.Ser499=) rs540772424 0.00001
NM_000057.4(BLM):c.1502T>A (p.Val501Glu) rs1247170438 0.00001
NM_000057.4(BLM):c.1536A>G (p.Gly512=) rs777277614 0.00001
NM_000057.4(BLM):c.1541A>G (p.Lys514Arg) rs550463714 0.00001
NM_000057.4(BLM):c.1551C>T (p.Ser517=) rs775878725 0.00001
NM_000057.4(BLM):c.1566A>G (p.Gly522=) rs1895965477 0.00001
NM_000057.4(BLM):c.1568A>T (p.Asn523Ile) rs1385248707 0.00001
NM_000057.4(BLM):c.159A>G (p.Ser53=) rs753606820 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.1674A>T (p.Ile558=) rs770573584 0.00001
NM_000057.4(BLM):c.1677T>A (p.Asp559Glu) rs780794194 0.00001
NM_000057.4(BLM):c.1695T>C (p.Asp565=) rs1343910502 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.1785A>T (p.Ser595=) rs79871543 0.00001
NM_000057.4(BLM):c.1791A>G (p.Ser597=) rs1895976551 0.00001
NM_000057.4(BLM):c.1797A>G (p.Arg599=) rs745353821 0.00001
NM_000057.4(BLM):c.1821T>G (p.Cys607Trp) rs1207886252 0.00001
NM_000057.4(BLM):c.1825C>A (p.Pro609Thr) rs770255643 0.00001
NM_000057.4(BLM):c.182G>C (p.Arg61Thr) rs1060500644 0.00001
NM_000057.4(BLM):c.1833A>G (p.Ser611=) rs747181657 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.1854C>T (p.Asn618=) rs371519654 0.00001
NM_000057.4(BLM):c.1863G>A (p.Glu621=) rs374965438 0.00001
NM_000057.4(BLM):c.186T>G (p.Asn62Lys) rs146735953 0.00001
NM_000057.4(BLM):c.1878T>C (p.Tyr626=) rs1176677177 0.00001
NM_000057.4(BLM):c.1882+20A>T rs773201778 0.00001
NM_000057.4(BLM):c.1905A>G (p.Ala635=) rs747122267 0.00001
NM_000057.4(BLM):c.1913A>C (p.Asn638Thr) rs587778110 0.00001
NM_000057.4(BLM):c.1926G>A (p.Glu642=) rs763017658 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.1968dup (p.Lys657fs) rs772785079 0.00001
NM_000057.4(BLM):c.1969A>G (p.Lys657Glu) rs758782238 0.00001
NM_000057.4(BLM):c.2015A>G (p.Gln672Arg) rs747281324 0.00001
NM_000057.4(BLM):c.2017C>T (p.Leu673=) rs1896030349 0.00001
NM_000057.4(BLM):c.2038C>T (p.Leu680=) rs1250342410 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.204C>T (p.Thr68=) rs199927688 0.00001
NM_000057.4(BLM):c.2051A>C (p.Asp684Ala) rs1262628899 0.00001
NM_000057.4(BLM):c.2058T>C (p.Phe686=) rs748410729 0.00001
NM_000057.4(BLM):c.2070G>A (p.Pro690=) rs148078150 0.00001
NM_000057.4(BLM):c.2075-1G>A rs1231598990 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.2118T>C (p.Ser706=) rs1896094006 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.2169A>G (p.Gln723=) rs781635047 0.00001
NM_000057.4(BLM):c.2182A>G (p.Thr728Ala) rs1440142847 0.00001
NM_000057.4(BLM):c.2193+17C>T rs749297090 0.00001
NM_000057.4(BLM):c.2193+19A>G rs374456610 0.00001
NM_000057.4(BLM):c.2193+9T>C rs780311860 0.00001
NM_000057.4(BLM):c.2193T>G (p.Asp731Glu) rs756354696 0.00001
NM_000057.4(BLM):c.2194-20T>C rs754006696 0.00001
NM_000057.4(BLM):c.2194-6A>G rs946104255 0.00001
NM_000057.4(BLM):c.2202T>C (p.Ala734=) rs1596235728 0.00001
NM_000057.4(BLM):c.2207A>G (p.Tyr736Cys) rs781008303 0.00001
NM_000057.4(BLM):c.2211G>C (p.Leu737=) rs933356579 0.00001
NM_000057.4(BLM):c.2213C>G (p.Thr738Arg) rs1474290499 0.00001
NM_000057.4(BLM):c.2241A>G (p.Thr747=) rs1060503987 0.00001
NM_000057.4(BLM):c.2244T>C (p.Asn748=) rs1223636319 0.00001
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) rs786204471 0.00001
NM_000057.4(BLM):c.2258T>A (p.Leu753Ter) rs1400231534 0.00001
NM_000057.4(BLM):c.2271C>G (p.Asp757Glu) rs773761682 0.00001
NM_000057.4(BLM):c.2277C>T (p.Ile759=) rs761106964 0.00001
NM_000057.4(BLM):c.227C>T (p.Pro76Leu) rs774515970 0.00001
NM_000057.4(BLM):c.2289A>G (p.Leu763=) rs1567044034 0.00001
NM_000057.4(BLM):c.2307+10T>G rs755168095 0.00001
NM_000057.4(BLM):c.2308-5C>T rs957805754 0.00001
NM_000057.4(BLM):c.2308-6G>A rs1219227761 0.00001
NM_000057.4(BLM):c.2310C>T (p.Ile770=) rs759705000 0.00001
NM_000057.4(BLM):c.2321A>G (p.Asn774Ser) rs1245556905 0.00001
NM_000057.4(BLM):c.2325A>G (p.Arg775=) rs1182162934 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.2370A>G (p.Ala790=) rs747537954 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.2397T>C (p.Cys799=) rs771209978 0.00001
NM_000057.4(BLM):c.2406+12T>C rs988984153 0.00001
NM_000057.4(BLM):c.2407-20G>A rs374279601 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.2454C>G (p.Arg818=) rs746409922 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.2488dup (p.Thr830fs) rs367543019 0.00001
NM_000057.4(BLM):c.2489C>T (p.Thr830Met) rs759545027 0.00001
NM_000057.4(BLM):c.2490G>A (p.Thr830=) rs765233032 0.00001
NM_000057.4(BLM):c.2497G>A (p.Ala833Thr) rs763918749 0.00001
NM_000057.4(BLM):c.2505C>G (p.Pro835=) rs1023396216 0.00001
NM_000057.4(BLM):c.2506_2507del (p.Arg836fs) rs367543024 0.00001
NM_000057.4(BLM):c.2517G>A (p.Lys839=) rs1353519492 0.00001
NM_000057.4(BLM):c.2524C>A (p.Leu842Met) rs1209722688 0.00001
NM_000057.4(BLM):c.252A>G (p.Gln84=) rs370062646 0.00001
NM_000057.4(BLM):c.2546G>A (p.Arg849Lys) rs780523899 0.00001
NM_000057.4(BLM):c.2550T>C (p.Pro850=) rs749718344 0.00001
NM_000057.4(BLM):c.2551C>G (p.Gln851Glu) rs767638712 0.00001
NM_000057.4(BLM):c.2555+15G>A rs376896850 0.00001
NM_000057.4(BLM):c.2555+20G>A rs762930185 0.00001
NM_000057.4(BLM):c.2555+8G>A rs1388713132 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.2604G>A (p.Pro868=) rs768447097 0.00001
NM_000057.4(BLM):c.2610G>A (p.Lys870=) rs905435014 0.00001
NM_000057.4(BLM):c.261G>A (p.Lys87=) rs372668612 0.00001
NM_000057.4(BLM):c.2635C>G (p.Leu879Val) rs1461606733 0.00001
NM_000057.4(BLM):c.2647A>C (p.Arg883=) rs1035944262 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.2661A>G (p.Pro887=) rs753160480 0.00001
NM_000057.4(BLM):c.2662+13A>G rs778144758 0.00001
NM_000057.4(BLM):c.2662+8C>G rs1330037075 0.00001
NM_000057.4(BLM):c.2662T>C (p.Tyr888His) rs758696992 0.00001
NM_000057.4(BLM):c.2663-1G>C rs1444037196 0.00001
NM_000057.4(BLM):c.2663-5G>C rs1161787867 0.00001
NM_000057.4(BLM):c.2674A>G (p.Ile892Val) rs764587569 0.00001
NM_000057.4(BLM):c.2679T>C (p.Ile893=) rs751945434 0.00001
NM_000057.4(BLM):c.267C>T (p.Phe89=) rs758297574 0.00001
NM_000057.4(BLM):c.2691C>T (p.Ser897=) rs756155242 0.00001
NM_000057.4(BLM):c.2709C>A (p.Thr903=) rs1555422522 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.2763C>T (p.Gly921=) rs1170782980 0.00001
NM_000057.4(BLM):c.2784T>C (p.Asp928=) rs1032746564 0.00001
NM_000057.4(BLM):c.2787A>G (p.Glu929=) rs764679551 0.00001
NM_000057.4(BLM):c.2803A>G (p.Ile935Val) rs774916971 0.00001
NM_000057.4(BLM):c.2806A>G (p.Asn936Asp) rs1422513540 0.00001
NM_000057.4(BLM):c.2823+2T>A rs1896712920 0.00001
NM_000057.4(BLM):c.2823+8T>C rs767928947 0.00001
NM_000057.4(BLM):c.2824-18C>A rs958623858 0.00001
NM_000057.4(BLM):c.2824-2A>T rs745538883 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.2868G>A (p.Pro956=) rs199861261 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.2979T>C (p.Tyr993=) rs1896887595 0.00001
NM_000057.4(BLM):c.2983T>C (p.Tyr995His) rs142723411 0.00001
NM_000057.4(BLM):c.2985T>C (p.Tyr995=) rs1367612540 0.00001
NM_000057.4(BLM):c.2987A>G (p.His996Arg) rs1451226538 0.00001
NM_000057.4(BLM):c.3013_3019+4del rs765392662 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+16T>C rs759695033 0.00001
NM_000057.4(BLM):c.3019+6C>G rs773494621 0.00001
NM_000057.4(BLM):c.3020-11A>G rs1331229405 0.00001
NM_000057.4(BLM):c.3020-258A>G rs1301751251 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.3042T>C (p.His1014=) rs1060503986 0.00001
NM_000057.4(BLM):c.3060C>T (p.Phe1020=) rs763020597 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.309A>T (p.Gly103=) rs1596218155 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.3163T>C (p.Cys1055Arg) rs746218707 0.00001
NM_000057.4(BLM):c.3172C>G (p.His1058Asp) rs1351087442 0.00001
NM_000057.4(BLM):c.3195T>C (p.Asn1065=) rs1297274221 0.00001
NM_000057.4(BLM):c.3210+10G>T rs765057634 0.00001
NM_000057.4(BLM):c.3210+4A>G rs776621429 0.00001
NM_000057.4(BLM):c.3211-11T>C rs1205725795 0.00001
NM_000057.4(BLM):c.3211-14C>G rs756488961 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.3240T>C (p.Asp1080=) rs1436960569 0.00001
NM_000057.4(BLM):c.3252T>C (p.Ile1084=) rs751147296 0.00001
NM_000057.4(BLM):c.3267A>G (p.Gln1089=) rs1396484162 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.3281C>A (p.Ser1094Ter) rs1472603091 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.3345C>T (p.Val1115=) rs773893026 0.00001
NM_000057.4(BLM):c.3348C>T (p.Asp1116=) rs372697241 0.00001
NM_000057.4(BLM):c.3358+15T>C rs761215968 0.00001
NM_000057.4(BLM):c.3358+16T>C rs766854886 0.00001
NM_000057.4(BLM):c.3359-17C>T rs1001673659 0.00001
NM_000057.4(BLM):c.3359-9T>C rs1060503988 0.00001
NM_000057.4(BLM):c.3371C>G (p.Ala1124Gly) rs751765688 0.00001
NM_000057.4(BLM):c.3396A>G (p.Gly1132=) rs1897213577 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.3468T>C (p.Asp1156=) rs1325465971 0.00001
NM_000057.4(BLM):c.3474C>T (p.Asp1158=) rs1158977476 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.3492T>C (p.Asn1164=) rs762058424 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.3510T>C (p.Tyr1170=) rs771325448 0.00001
NM_000057.4(BLM):c.3513G>A (p.Val1171=) rs780615126 0.00001
NM_000057.4(BLM):c.3519C>T (p.Leu1173=) rs769119431 0.00001
NM_000057.4(BLM):c.3534A>G (p.Gln1178=) rs769177306 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.3585C>T (p.Ser1195=) rs1023322113 0.00001
NM_000057.4(BLM):c.3608C>T (p.Ala1203Val) rs757088548 0.00001
NM_000057.4(BLM):c.3609G>A (p.Ala1203=) rs151114049 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.3660A>G (p.Gly1220=) rs779564538 0.00001
NM_000057.4(BLM):c.3667dup (p.Thr1223fs) rs1057517154 0.00001
NM_000057.4(BLM):c.3690G>A (p.Gly1230=) rs1177156588 0.00001
NM_000057.4(BLM):c.3699T>C (p.Phe1233=) rs773406498 0.00001
NM_000057.4(BLM):c.3727dup (p.Thr1243fs) rs367543021 0.00001
NM_000057.4(BLM):c.3728C>T (p.Thr1243Ile) rs972145772 0.00001
NM_000057.4(BLM):c.372C>T (p.Asn124=) rs776602757 0.00001
NM_000057.4(BLM):c.3752-13T>G rs778248812 0.00001
NM_000057.4(BLM):c.3752-6G>A rs747358693 0.00001
NM_000057.4(BLM):c.3756T>A (p.Ser1252=) rs771209895 0.00001
NM_000057.4(BLM):c.377C>T (p.Pro126Leu) rs1060500650 0.00001
NM_000057.4(BLM):c.3822T>C (p.Tyr1274=) rs578242272 0.00001
NM_000057.4(BLM):c.3825T>C (p.Gly1275=) rs1330805869 0.00001
NM_000057.4(BLM):c.3827C>T (p.Ala1276Val) rs760554566 0.00001
NM_000057.4(BLM):c.3840A>G (p.Ser1280=) rs759221501 0.00001
NM_000057.4(BLM):c.3865A>T (p.Thr1289Ser) rs1060500645 0.00001
NM_000057.4(BLM):c.3867A>G (p.Thr1289=) rs759000443 0.00001
NM_000057.4(BLM):c.3869C>T (p.Ser1290Leu) rs1031421025 0.00001
NM_000057.4(BLM):c.3874+12G>A rs563655888 0.00001
NM_000057.4(BLM):c.3874+14C>T rs200469326 0.00001
NM_000057.4(BLM):c.3874+18del rs760501703 0.00001
NM_000057.4(BLM):c.3874+19G>A rs1352718454 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.3875-6T>C rs1021714718 0.00001
NM_000057.4(BLM):c.3878A>G (p.Glu1293Gly) rs746979958 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.3924A>T (p.Gly1308=) rs1019687102 0.00001
NM_000057.4(BLM):c.3933C>T (p.Ala1311=) rs756451802 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.4023C>T (p.Ala1341=) rs1596273681 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.405T>C (p.Ala135=) rs1489975728 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.4119C>G (p.Ser1373=) rs1210181566 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.4158T>G (p.Ser1386=) rs746522338 0.00001
NM_000057.4(BLM):c.4177A>G (p.Asn1393Asp) rs548600410 0.00001
NM_000057.4(BLM):c.417A>G (p.Leu139=) rs756759106 0.00001
NM_000057.4(BLM):c.4188G>A (p.Leu1396=) rs1226163466 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.4206G>A (p.Pro1402=) rs775975894 0.00001
NM_000057.4(BLM):c.4250C>T (p.Ser1417Leu) rs1897533974 0.00001
NM_000057.4(BLM):c.437A>T (p.Asp146Val) rs902876126 0.00001
NM_000057.4(BLM):c.44G>A (p.Arg15His) rs752755503 0.00001
NM_000057.4(BLM):c.453C>A (p.Ile151=) rs1200887609 0.00001
NM_000057.4(BLM):c.45T>C (p.Arg15=) rs1458732220 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.528C>T (p.His176=) rs1414955135 0.00001
NM_000057.4(BLM):c.540A>T (p.Val180=) rs763776756 0.00001
NM_000057.4(BLM):c.555A>T (p.Lys185Asn) rs766947105 0.00001
NM_000057.4(BLM):c.558A>C (p.Ser186=) rs982183816 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.609A>G (p.Thr203=) rs1448719185 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.696C>A (p.Ser232Arg) rs201845548 0.00001
NM_000057.4(BLM):c.700G>A (p.Asp234Asn) rs878853555 0.00001
NM_000057.4(BLM):c.702T>C (p.Asp234=) rs1271054585 0.00001
NM_000057.4(BLM):c.711C>T (p.Cys237=) rs752961612 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.870A>G (p.Glu290=) rs757016773 0.00001
NM_000057.4(BLM):c.888T>C (p.Tyr296=) rs139277089 0.00001
NM_000057.4(BLM):c.896A>G (p.Asp299Gly) rs1418306226 0.00001
NM_000057.4(BLM):c.909T>C (p.Pro303=) rs767770187 0.00001
NM_000057.4(BLM):c.931G>T (p.Ala311Ser) rs753911420 0.00001
NM_000057.4(BLM):c.933T>C (p.Ala311=) rs1413246062 0.00001
NM_000057.4(BLM):c.959+17A>G rs1263627625 0.00001
NM_000057.4(BLM):c.959+7T>C rs1274044135 0.00001
NM_000057.4(BLM):c.960-8A>G rs1895773501 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)_(90751956_?)del
NC_000015.10:g.(?_90747383)_(90769596_?)dup
NC_000015.10:g.(?_90747393)_(90815279_?)del
NC_000015.10:g.(?_90749357)_(90765424_?)del
NC_000015.10:g.(?_90754801)_(90754948_?)del
NC_000015.10:g.(?_90766904)_(90767029_?)del
NC_000015.10:g.(?_90769123)_(90769596_?)del
NC_000015.10:g.(?_90782812)_(90785091_?)del
NC_000015.10:g.(?_90790639)_(90790854_?)del
NC_000015.10:g.(?_90790643)_(90790850_?)del
NC_000015.10:g.(?_90794157)_(90798347_?)del
NC_000015.10:g.(?_90803511)_(90804369_?)del
NC_000015.10:g.(?_90809127)_(90815289_?)del
NC_000015.10:g.(?_90811195)_(90811416_?)del
NC_000015.9:g.(91312817_91326051)_(91334075_91337396)dup
NC_000015.9:g.(?_91259558)_(91359692_?)dup
NC_000015.9:g.(?_91290613)_(91298178_?)dup
NC_000015.9:g.(?_91290613)_(91312826_?)del
NC_000015.9:g.(?_91290613)_(91354646_?)del
NC_000015.9:g.(?_91290623)_(91290730_?)del
NC_000015.9:g.(?_91290623)_(91298188_?)del
NC_000015.9:g.(?_91290623)_(91358509_?)dup
NC_000015.9:g.(?_91295007)_(91295186_?)del
NC_000015.9:g.(?_91305197)_(91306180_?)del
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.(?_91326032)_(91326178_?)del
NC_000015.9:g.(?_91326042)_(91328321_?)dup
NC_000015.9:g.(?_91326042)_(91334084_?)dup
NC_000015.9:g.(?_91326042)_(91358509_?)del
NC_000015.9:g.(?_91333859)_(91334094_?)del
NC_000015.9:g.(?_91341410)_(91341577_?)del
NC_000015.9:g.(?_91341410)_(91341577_?)dup
NC_000015.9:g.(?_91341410)_(91358509_?)dup
NC_000015.9:g.(?_91341448)_(91344889_?)del
NC_000015.9:g.(?_91346741)_(91358509_?)del
NC_000015.9:g.(?_91346741)_(91358519_?)del
NC_000015.9:g.(?_91352357)_(91358509_?)del
NC_000015.9:g.(?_91358322)_(91358509_?)dup
NC_000015.9:g.(?_91358322)_(91358519_?)del
NM_000057.4(BLM):c.-33G>C rs938444227
NM_000057.4(BLM):c.-4-2A>T rs866546098
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.1003_1006dup (p.Ser336delinsThrTer) rs1057517359
NM_000057.4(BLM):c.1007G>A (p.Ser336Asn) rs2151152181
NM_000057.4(BLM):c.1008C>T (p.Ser336=) rs1490955099
NM_000057.4(BLM):c.1011A>T (p.Thr337=) rs773511833
NM_000057.4(BLM):c.1012T>C (p.Ser338Pro)
NM_000057.4(BLM):c.1012T>G (p.Ser338Ala) rs2151152195
NM_000057.4(BLM):c.1014A>C (p.Ser338=) rs1251803802
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.1023T>C (p.Leu341=)
NM_000057.4(BLM):c.1023T>G (p.Leu341=) rs28385006
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.1041A>G (p.Lys347=)
NM_000057.4(BLM):c.1043T>C (p.Met348Thr)
NM_000057.4(BLM):c.1043dup (p.Met348fs) rs1567038003
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.1051C>T (p.Gln351Ter)
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.1070C>T (p.Thr357Ile) rs1555419001
NM_000057.4(BLM):c.1071C>T (p.Thr357=) rs1596223942
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.1074C>T (p.Ser358=) rs372459059
NM_000057.4(BLM):c.1075A>C (p.Thr359Pro) rs1332024999
NM_000057.4(BLM):c.1077A>G (p.Thr359=) rs1361847926
NM_000057.4(BLM):c.1079A>G (p.Asp360Gly)
NM_000057.4(BLM):c.107C>G (p.Thr36Ser) rs1895599706
NM_000057.4(BLM):c.1083T>C (p.Cys361=)
NM_000057.4(BLM):c.1083_1084del (p.Cys361_Asp362delinsTer) rs1057517030
NM_000057.4(BLM):c.1087+11T>C rs2151152365
NM_000057.4(BLM):c.1087+12A>G
NM_000057.4(BLM):c.1087+15T>G
NM_000057.4(BLM):c.1087+19A>G
NM_000057.4(BLM):c.1087+1G>A rs1179486581
NM_000057.4(BLM):c.1087+1G>T
NM_000057.4(BLM):c.1087+20C>T rs1186216476
NM_000057.4(BLM):c.1087+2T>C
NM_000057.4(BLM):c.1087+5A>G
NM_000057.4(BLM):c.1087+7G>A rs2151152360
NM_000057.4(BLM):c.1087+8C>A rs1895780097
NM_000057.4(BLM):c.1087+9A>C
NM_000057.4(BLM):c.1088-13A>T
NM_000057.4(BLM):c.1088-17A>G rs747396397
NM_000057.4(BLM):c.1088-17_1088-15del rs750254937
NM_000057.4(BLM):c.1088-18A>G rs2151157054
NM_000057.4(BLM):c.1088-19C>G
NM_000057.4(BLM):c.1088-1G>A rs1555419696
NM_000057.4(BLM):c.1088-35C>T rs1359919212
NM_000057.4(BLM):c.1088-38C>T rs758949040
NM_000057.4(BLM):c.1088-39C>T rs878957002
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.1088-9A>T
NM_000057.4(BLM):c.1088C>T (p.Ala363Val) rs1567040460
NM_000057.4(BLM):c.1089T>C (p.Ala363=) rs2151157107
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter) rs1567040469
NM_000057.4(BLM):c.1092A>G (p.Arg364=) rs2151157122
NM_000057.4(BLM):c.1093C>T (p.Gln365Ter)
NM_000057.4(BLM):c.1093_1096del (p.Arg364_Gln365insTer) rs2151157115
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.1101T>C (p.Ser367=)
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>A (p.Gln369=) rs1895931307
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.1110G>A (p.Gln370=) rs2151157206
NM_000057.4(BLM):c.1113G>A (p.Gln371=) rs760446922
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.1114del (p.Ile373fs) rs1555419704
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.1125G>A (p.Val375=) rs2151157267
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.1129del (p.Glu377fs) rs1555419710
NM_000057.4(BLM):c.1131G>A (p.Glu377=) rs764842587
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.1151del (p.Asp384fs) rs1555419724
NM_000057.4(BLM):c.1153A>G (p.Thr385Ala) rs1895934308
NM_000057.4(BLM):c.1154del (p.Thr385fs)
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.1164T>C (p.Asp388=) rs2151157391
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.1173_1180dup (p.Leu394Ter) rs1596228957
NM_000057.4(BLM):c.1176dup (p.Leu393fs) rs1358266880
NM_000057.4(BLM):c.1177C>T (p.Leu393Phe) rs1895935448
NM_000057.4(BLM):c.1180T>C (p.Leu394=) rs2151157434
NM_000057.4(BLM):c.1180_1181del (p.Leu394fs) rs758132052
NM_000057.4(BLM):c.1185T>C (p.Asp395=) rs2151157439
NM_000057.4(BLM):c.1188T>C (p.Cys396=) rs756454608
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.1195G>T (p.Glu399Ter)
NM_000057.4(BLM):c.1197A>T (p.Glu399Asp) rs1596228991
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.1204dup (p.Gln402fs)
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>A (p.Gln403=) rs1555419741
NM_000057.4(BLM):c.1209G>C (p.Gln403His) rs1555419741
NM_000057.4(BLM):c.1210del (p.Arg404fs) rs1555419742
NM_000057.4(BLM):c.1211G>T (p.Arg404Leu) rs776516663
NM_000057.4(BLM):c.1212G>A (p.Arg404=)
NM_000057.4(BLM):c.1212G>C (p.Arg404=)
NM_000057.4(BLM):c.1212G>T (p.Arg404=) rs759308711
NM_000057.4(BLM):c.1214A>G (p.Asn405Ser) rs752223894
NM_000057.4(BLM):c.1216A>G (p.Ile406Val) rs769498398
NM_000057.4(BLM):c.1217T>C (p.Ile406Thr) rs2151157512
NM_000057.4(BLM):c.1218A>C (p.Ile406=)
NM_000057.4(BLM):c.1220+11T>A
NM_000057.4(BLM):c.1220+11T>G
NM_000057.4(BLM):c.1220+14C>A
NM_000057.4(BLM):c.1220+14C>G
NM_000057.4(BLM):c.1220+17C>G
NM_000057.4(BLM):c.1220+18C>T
NM_000057.4(BLM):c.1220+18del
NM_000057.4(BLM):c.1220+1G>A rs1555419748
NM_000057.4(BLM):c.1220+1G>T
NM_000057.4(BLM):c.1220+2T>C
NM_000057.4(BLM):c.1220+2T>G
NM_000057.4(BLM):c.1220+3A>G rs1429490877
NM_000057.4(BLM):c.1220+3A>T
NM_000057.4(BLM):c.1220G>A (p.Arg407Lys) rs1350192744
NM_000057.4(BLM):c.1220G>C (p.Arg407Thr) rs1350192744
NM_000057.4(BLM):c.1221-11T>C
NM_000057.4(BLM):c.1221-11del
NM_000057.4(BLM):c.1221-12_1221-11del rs1895945037
NM_000057.4(BLM):c.1221-15C>G rs1038629873
NM_000057.4(BLM):c.1221-16T>C rs2151157723
NM_000057.4(BLM):c.1221-20G>A rs2151157720
NM_000057.4(BLM):c.1221-2A>C rs1555419779
NM_000057.4(BLM):c.1221-3C>T
NM_000057.4(BLM):c.1221-6C>A
NM_000057.4(BLM):c.1221-6C>G rs1555419778
NM_000057.4(BLM):c.1221-6C>T rs1555419778
NM_000057.4(BLM):c.1221-7T>G
NM_000057.4(BLM):c.1221-8C>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.1231_1232delinsTA (p.Leu411Ter)
NM_000057.4(BLM):c.1236G>T (p.Thr412=) rs762617509
NM_000057.4(BLM):c.1237G>C (p.Glu413Gln) rs887921909
NM_000057.4(BLM):c.1237G>T (p.Glu413Ter) rs887921909
NM_000057.4(BLM):c.1237_1240del (p.Thr412_Glu413insTer)
NM_000057.4(BLM):c.1243G>C (p.Asp415His)
NM_000057.4(BLM):c.124_127del (p.Ser42fs)
NM_000057.4(BLM):c.1250A>G (p.Asn417Ser) rs2151157798
NM_000057.4(BLM):c.1251T>C (p.Asn417=) rs1555419791
NM_000057.4(BLM):c.1253A>T (p.Lys418Ile)
NM_000057.4(BLM):c.1254_1255del (p.Lys418_Ser419insTer) rs1895946786
NM_000057.4(BLM):c.1255del (p.Ser419fs) rs1895946786
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.1269T>C (p.Leu423=)
NM_000057.4(BLM):c.1274G>A (p.Gly425Asp) rs1244225539
NM_000057.4(BLM):c.1278A>C (p.Ser426=) rs1596229500
NM_000057.4(BLM):c.1278A>G (p.Ser426=) rs1596229500
NM_000057.4(BLM):c.1279T>C (p.Leu427=) rs2151157855
NM_000057.4(BLM):c.1280T>G (p.Leu427Trp)
NM_000057.4(BLM):c.1281G>A (p.Leu427=) rs2151157860
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.1289_1290insAT (p.Tyr430Ter) rs749512704
NM_000057.4(BLM):c.1290C>A (p.Tyr430Ter)
NM_000057.4(BLM):c.1290C>T (p.Tyr430=) rs766861351
NM_000057.4(BLM):c.1295dup (p.Pro432_Asp433insTer) rs1555419806
NM_000057.4(BLM):c.1296T>C (p.Pro432=) rs1555419811
NM_000057.4(BLM):c.1296T>G (p.Pro432=)
NM_000057.4(BLM):c.1299T>A (p.Asp433Glu)
NM_000057.4(BLM):c.1299T>C (p.Asp433=)
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.1305T>G (p.Leu435=) rs778967807
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.1314T>C (p.Pro438=) rs1225205444
NM_000057.4(BLM):c.1316del (p.Met439fs) rs1555419829
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.1326T>C (p.Asp442=) rs2151158008
NM_000057.4(BLM):c.1329C>A (p.Ser443=)
NM_000057.4(BLM):c.1329C>T (p.Ser443=)
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.1332C>T (p.Cys444=) rs1895952071
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.1338A>G (p.Thr446=) rs2151158038
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.1341del (p.Asn448fs) rs2151158046
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.1346del (p.Ser449fs) rs2151158066
NM_000057.4(BLM):c.1347T>C (p.Ser449=) rs1481709366
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.1356G>A (p.Glu452=)
NM_000057.4(BLM):c.1358T>C (p.Leu453Ser)
NM_000057.4(BLM):c.1358T>G (p.Leu453Ter) rs730881428
NM_000057.4(BLM):c.135C>T (p.Asn45=) rs2151146713
NM_000057.4(BLM):c.1360A>C (p.Asn454His)
NM_000057.4(BLM):c.1361A>G (p.Asn454Ser) rs1895953927
NM_000057.4(BLM):c.1361del (p.Asn454fs) rs2151158091
NM_000057.4(BLM):c.1362T>C (p.Asn454=) rs1156488243
NM_000057.4(BLM):c.1364T>G (p.Phe455Cys)
NM_000057.4(BLM):c.1365T>C (p.Phe455=)
NM_000057.4(BLM):c.1367C>T (p.Ser456Leu)
NM_000057.4(BLM):c.1368A>T (p.Ser456=)
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.1371C>T (p.His457=)
NM_000057.4(BLM):c.1372C>T (p.Leu458Phe)
NM_000057.4(BLM):c.1374T>G (p.Leu458=) rs753456624
NM_000057.4(BLM):c.1374del (p.Ser460fs)
NM_000057.4(BLM):c.1376C>A (p.Pro459His) rs1302320494
NM_000057.4(BLM):c.1383T>C (p.Asn461=) rs2151158124
NM_000057.4(BLM):c.1388T>G (p.Val463Gly) rs1555419857
NM_000057.4(BLM):c.138T>C (p.Asn46=) rs1895600929
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.1392T>C (p.Ser464=) rs2151158131
NM_000057.4(BLM):c.1394C>A (p.Pro465His) rs561545349
NM_000057.4(BLM):c.1395T>C (p.Pro465=)
NM_000057.4(BLM):c.1397G>A (p.Gly466Glu) rs1567041006
NM_000057.4(BLM):c.1398G>A (p.Gly466=) rs1596229756
NM_000057.4(BLM):c.1399dup (p.Asp467fs) rs1555419862
NM_000057.4(BLM):c.13C>T (p.Pro5Ser) rs760982604
NM_000057.4(BLM):c.1404T>C (p.Cys468=) rs1236929438
NM_000057.4(BLM):c.1404T>G (p.Cys468Trp) rs1236929438
NM_000057.4(BLM):c.1410_1413del (p.Thr471fs) rs2151158165
NM_000057.4(BLM):c.1411A>G (p.Thr471Ala) rs2151158175
NM_000057.4(BLM):c.1416C>A (p.Thr472=)
NM_000057.4(BLM):c.1419C>G (p.Thr473=) rs200051680
NM_000057.4(BLM):c.141A>C (p.Val47=)
NM_000057.4(BLM):c.1421T>C (p.Leu474Pro)
NM_000057.4(BLM):c.1425A>G (p.Gly475=)
NM_000057.4(BLM):c.1427A>G (p.Lys476Arg) rs2151158198
NM_000057.4(BLM):c.1427del (p.Lys476fs)
NM_000057.4(BLM):c.1429_1432del (p.Thr477fs) rs1555419873
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.1430_1431del (p.Thr477fs)
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.1437C>T (p.Phe479=)
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.1440dup (p.Ala481fs) rs1596229894
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.1446C>T (p.Thr482=) rs2151158251
NM_000057.4(BLM):c.1448G>A (p.Arg483Lys)
NM_000057.4(BLM):c.1449G>A (p.Arg483=) rs1596229906
NM_000057.4(BLM):c.1449G>C (p.Arg483Ser)
NM_000057.4(BLM):c.1450A>T (p.Lys484Ter)
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.1461T>C (p.Phe487=)
NM_000057.4(BLM):c.1462G>A (p.Glu488Lys) rs1477193473
NM_000057.4(BLM):c.1462G>T (p.Glu488Ter) 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.1470T>C (p.Pro490=)
NM_000057.4(BLM):c.1473A>G (p.Leu491=)
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.1479T>C (p.Asn493=)
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs) rs746244182
NM_000057.4(BLM):c.147A>C (p.Val49=)
NM_000057.4(BLM):c.1481C>T (p.Thr494Ile) rs751600686
NM_000057.4(BLM):c.1482C>T (p.Thr494=) rs1596229985
NM_000057.4(BLM):c.1484A>G (p.His495Arg) rs2151158309
NM_000057.4(BLM):c.1485T>C (p.His495=) rs2151158313
NM_000057.4(BLM):c.1487del (p.Leu496fs) rs2151158316
NM_000057.4(BLM):c.1488A>G (p.Leu496=)
NM_000057.4(BLM):c.1489C>T (p.Gln497Ter) rs2151158321
NM_000057.4(BLM):c.1490A>C (p.Gln497Pro) rs368547042
NM_000057.4(BLM):c.1491G>T (p.Gln497His)
NM_000057.4(BLM):c.1492A>T (p.Lys498Ter) rs2151158332
NM_000057.4(BLM):c.1494G>A (p.Lys498=)
NM_000057.4(BLM):c.1497C>A (p.Ser499=) rs540772424
NM_000057.4(BLM):c.14C>T (p.Pro5Leu) rs1567034056
NM_000057.4(BLM):c.1500T>C (p.Phe500=)
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>A (p.Trp505Ter)
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.1533A>C (p.Leu511=)
NM_000057.4(BLM):c.1535dup (p.Asn515fs) rs2151158428
NM_000057.4(BLM):c.1537A>T (p.Lys513Ter)
NM_000057.4(BLM):c.153T>C (p.Asn51=)
NM_000057.4(BLM):c.1541A>T (p.Lys514Ile) rs550463714
NM_000057.4(BLM):c.1542A>C (p.Lys514Asn)
NM_000057.4(BLM):c.1544del (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.1544dup (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.1546G>A (p.Glu516Lys)
NM_000057.4(BLM):c.1546G>T (p.Glu516Ter) rs1596230118
NM_000057.4(BLM):c.1549dup (p.Ser517fs) rs1555419902
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.1554T>A (p.Ser518=) rs2151158475
NM_000057.4(BLM):c.1555T>G (p.Tyr519Asp) rs1895964366
NM_000057.4(BLM):c.1557T>C (p.Tyr519=)
NM_000057.4(BLM):c.1559T>C (p.Phe520Ser) rs1410283592
NM_000057.4(BLM):c.1560C>T (p.Phe520=) rs2151158484
NM_000057.4(BLM):c.1561C>T (p.Pro521Ser) rs1451973495
NM_000057.4(BLM):c.1563A>C (p.Pro521=)
NM_000057.4(BLM):c.1564G>A (p.Gly522Arg) rs1895965135
NM_000057.4(BLM):c.1565del (p.Gly522fs) rs1895965271
NM_000057.4(BLM):c.156G>A (p.Val52=)
NM_000057.4(BLM):c.156G>T (p.Val52=) rs2151146748
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.1584T>G (p.Thr528=) rs766369993
NM_000057.4(BLM):c.1585G>A (p.Ala529Thr)
NM_000057.4(BLM):c.1589T>C (p.Val530Ala) rs2151158554
NM_000057.4(BLM):c.1590G>A (p.Val530=)
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.1599G>A (p.Gln533=) rs2151158575
NM_000057.4(BLM):c.1603A>T (p.Lys535Ter)
NM_000057.4(BLM):c.1610C>A (p.Thr537Asn) rs1555419928
NM_000057.4(BLM):c.1611T>C (p.Thr537=) rs1895967311
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.1622del (p.Asn541fs)
NM_000057.4(BLM):c.1624G>A (p.Asp542Asn)
NM_000057.4(BLM):c.1624G>T (p.Asp542Tyr) rs1555419932
NM_000057.4(BLM):c.1624del (p.Asp542fs) rs747498968
NM_000057.4(BLM):c.1626C>A (p.Asp542Glu) rs1895968518
NM_000057.4(BLM):c.1626C>T (p.Asp542=) rs1895968518
NM_000057.4(BLM):c.1628T>G (p.Leu543Ter) rs367543038
NM_000057.4(BLM):c.1631A>G (p.Glu544Gly) rs1567041307
NM_000057.4(BLM):c.1632_1635del (p.Arg545fs) rs1205301894
NM_000057.4(BLM):c.1633A>G (p.Arg545Gly) rs1596230280
NM_000057.4(BLM):c.1634G>A (p.Arg545Lys)
NM_000057.4(BLM):c.1634_1639del (p.Arg545_Glu546del) rs1555419934
NM_000057.4(BLM):c.1641C>G (p.Thr547=)
NM_000057.4(BLM):c.1641C>T (p.Thr547=) rs2151158651
NM_000057.4(BLM):c.1641_1642insAGAAAGAGAAACCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA (p.Gln548delinsArgLysArgAsnProAlaGlyArgGlyGlySerArgLeuTer) rs2151158659
NM_000057.4(BLM):c.1642_1643insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAGAGAAACCC (p.Gln548delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProGlyTer) rs2151158629
NM_000057.4(BLM):c.1644A>G (p.Gln548=)
NM_000057.4(BLM):c.1647T>C (p.Pro549=)
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.1653T>C (p.Tyr551=)
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.1674A>C (p.Ile558=)
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.1683T>C (p.Phe561=)
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.1686T>C (p.Asp562=)
NM_000057.4(BLM):c.1688A>T (p.Asp563Val) rs1288457938
NM_000057.4(BLM):c.1689T>C (p.Asp563=)
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.1701G>A (p.Trp567Ter) rs1356090839
NM_000057.4(BLM):c.1705G>A (p.Asp569Asn)
NM_000057.4(BLM):c.1706A>G (p.Asp569Gly) rs1895971955
NM_000057.4(BLM):c.1707C>T (p.Asp569=) rs1596230402
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.171A>T (p.Thr57=)
NM_000057.4(BLM):c.1720_1735del (p.Ala575fs) rs1057516361
NM_000057.4(BLM):c.1722_1725delinsGGC (p.Ala576fs) rs1057517266
NM_000057.4(BLM):c.1725A>G (p.Ala575=) rs2151158860
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.1732A>T (p.Lys578Ter) rs2151158869
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>G (p.Lys578=)
NM_000057.4(BLM):c.1734A>T (p.Lys578Asn)
NM_000057.4(BLM):c.1737T>G (p.Ser579=) rs2151158878
NM_000057.4(BLM):c.1739C>T (p.Ser580Phe)
NM_000057.4(BLM):c.1740del (p.Thr581fs) rs1057517432
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.1749C>G (p.Ala583=) rs369660800
NM_000057.4(BLM):c.1749C>T (p.Ala583=) rs369660800
NM_000057.4(BLM):c.1752del (p.Gln585fs) rs1555419961
NM_000057.4(BLM):c.1753C>A (p.Gln585Lys)
NM_000057.4(BLM):c.1756C>T (p.Pro586Ser) rs1895975290
NM_000057.4(BLM):c.175_176del (p.Val59fs) rs2151146787
NM_000057.4(BLM):c.1761C>G (p.Ile587Met) rs2151158924
NM_000057.4(BLM):c.1763del (p.Lys588fs)
NM_000057.4(BLM):c.1764G>A (p.Lys588=) rs1596230518
NM_000057.4(BLM):c.1764_1777del (p.Lys588fs) rs1057516956
NM_000057.4(BLM):c.1765del (p.Glu589fs)
NM_000057.4(BLM):c.1767A>G (p.Glu589=) rs2151158940
NM_000057.4(BLM):c.1770T>C (p.Gly590=)
NM_000057.4(BLM):c.1770_1772dup (p.Arg591_Pro592insArg)
NM_000057.4(BLM):c.1771C>G (p.Arg591Gly)
NM_000057.4(BLM):c.1773G>A (p.Arg591=) rs1161912678
NM_000057.4(BLM):c.1781A>T (p.Lys594Ile) rs2151158958
NM_000057.4(BLM):c.1784C>G (p.Ser595Ter) rs138943954
NM_000057.4(BLM):c.1786G>A (p.Val596Ile) rs1596230556
NM_000057.4(BLM):c.1788A>G (p.Val596=) rs1555419972
NM_000057.4(BLM):c.1794_1797del (p.Glu598fs) rs2151158979
NM_000057.4(BLM):c.1795del (p.Arg599fs) rs1057517431
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.1803C>T (p.Ser601=)
NM_000057.4(BLM):c.1804T>G (p.Ser602Ala) rs1895977282
NM_000057.4(BLM):c.1805C>A (p.Ser602Ter)
NM_000057.4(BLM):c.1805C>T (p.Ser602Leu) rs2151159026
NM_000057.4(BLM):c.1806A>G (p.Ser602=)
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.1809C>G (p.Ala603=) rs1596230587
NM_000057.4(BLM):c.1810A>G (p.Lys604Glu)
NM_000057.4(BLM):c.1812G>A (p.Lys604=)
NM_000057.4(BLM):c.1817A>T (p.Asp606Val)
NM_000057.4(BLM):c.1817_1818insGT (p.Asp606fs)
NM_000057.4(BLM):c.1817_1820del (p.Asp606fs) rs1555419980
NM_000057.4(BLM):c.1818C>G (p.Asp606Glu)
NM_000057.4(BLM):c.1818C>T (p.Asp606=) rs1343649830
NM_000057.4(BLM):c.1819T>C (p.Cys607Arg)
NM_000057.4(BLM):c.1820_1821insCTTCCAGTGTCTGGAAGTAGATGACACT (p.Leu608fs) rs2151159067
NM_000057.4(BLM):c.1825C>T (p.Pro609Ser)
NM_000057.4(BLM):c.1826C>T (p.Pro609Leu) rs1895978264
NM_000057.4(BLM):c.1827A>G (p.Pro609=) rs1035455107
NM_000057.4(BLM):c.1827A>T (p.Pro609=)
NM_000057.4(BLM):c.182G>T (p.Arg61Ile) rs1060500644
NM_000057.4(BLM):c.1832C>A (p.Ser611Ter)
NM_000057.4(BLM):c.1832C>G (p.Ser611Ter)
NM_000057.4(BLM):c.1832C>T (p.Ser611Leu) rs1895978539
NM_000057.4(BLM):c.1836T>C (p.Ser612=)
NM_000057.4(BLM):c.1837A>C (p.Thr613Pro)
NM_000057.4(BLM):c.1839T>C (p.Thr613=) rs2151159114
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.1845A>G (p.Gln615=)
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.1857C>T (p.Phe619=) rs1218260888
NM_000057.4(BLM):c.1860A>C (p.Ser620=) rs1286518338
NM_000057.4(BLM):c.1863G>C (p.Glu621Asp) rs374965438
NM_000057.4(BLM):c.1864_1865del (p.Ser622fs) rs2151159180
NM_000057.4(BLM):c.1865C>G (p.Ser622Ter)
NM_000057.4(BLM):c.1866A>G (p.Ser622=) rs2151159183
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.1875T>C (p.Asn625=) rs2151159204
NM_000057.4(BLM):c.1879A>G (p.Thr627Ala) rs1895981084
NM_000057.4(BLM):c.1880C>T (p.Thr627Ile)
NM_000057.4(BLM):c.1882+15A>C
NM_000057.4(BLM):c.1882+15A>G
NM_000057.4(BLM):c.1882+17T>A rs2151159231
NM_000057.4(BLM):c.1882+18T>C
NM_000057.4(BLM):c.1882+19G>A
NM_000057.4(BLM):c.1882+1G>C rs757841012
NM_000057.4(BLM):c.1882+2T>C
NM_000057.4(BLM):c.1882G>A (p.Asp628Asn)
NM_000057.4(BLM):c.1883-10A>G
NM_000057.4(BLM):c.1883-11T>A rs2151160467
NM_000057.4(BLM):c.1883-14G>A rs1459105649
NM_000057.4(BLM):c.1883-14G>T
NM_000057.4(BLM):c.1883-14_1883-11del
NM_000057.4(BLM):c.1883-18C>T rs755428003
NM_000057.4(BLM):c.1883-19A>G
NM_000057.4(BLM):c.1883-1G>A rs772230310
NM_000057.4(BLM):c.1883-2A>G rs1555420142
NM_000057.4(BLM):c.1883-6T>C rs1596232042
NM_000057.4(BLM):c.1883-7T>C rs1384842732
NM_000057.4(BLM):c.1883-8T>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.1889C>G (p.Ser630Ter) rs2151160492
NM_000057.4(BLM):c.1891G>C (p.Ala631Pro)
NM_000057.4(BLM):c.1894C>A (p.Gln632Lys) rs746857727
NM_000057.4(BLM):c.1894C>T (p.Gln632Ter)
NM_000057.4(BLM):c.1895A>C (p.Gln632Pro) rs1896025240
NM_000057.4(BLM):c.18A>G (p.Gln6=) rs372771577
NM_000057.4(BLM):c.1907C>G (p.Ser636Cys) rs1596232081
NM_000057.4(BLM):c.1908C>A (p.Ser636=)
NM_000057.4(BLM):c.1908C>T (p.Ser636=) rs1409930066
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.1917G>A (p.Leu639=) rs771059822
NM_000057.4(BLM):c.1918A>G (p.Lys640Glu)
NM_000057.4(BLM):c.191A>C (p.Asp64Ala) rs140382474
NM_000057.4(BLM):c.1921del (p.His641fs)
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.1928del (p.Arg643fs) rs2151160567
NM_000057.4(BLM):c.1929T>C (p.Arg643=)
NM_000057.4(BLM):c.192T>C (p.Asp64=) rs2151146805
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.1953T>C (p.His651=) rs755517718
NM_000057.4(BLM):c.1953_1956del (p.His651fs)
NM_000057.4(BLM):c.1956A>C (p.Thr652=) rs1567042229
NM_000057.4(BLM):c.1956A>G (p.Thr652=) rs1567042229
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.1959G>A (p.Lys653=)
NM_000057.4(BLM):c.1964TGA[1] (p.Met656del) rs1555420164
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.196_197insCTCTTTTCTAAGGAAGGCAAAACAAAAGCATTTAAAAACTAATTTAATTAAGGTTAAAAATTCATCTGCCGCTGCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAATAAAGATGTTA (p.Asn66delinsThrLeuPheTer)
NM_000057.4(BLM):c.1970A>T (p.Lys657Met) rs1896029053
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.1977T>C (p.Phe659=) rs1596232235
NM_000057.4(BLM):c.1977del (p.His660fs)
NM_000057.4(BLM):c.1978C>T (p.His660Tyr) rs139688226
NM_000057.4(BLM):c.1979A>G (p.His660Arg) rs1896029572
NM_000057.4(BLM):c.1985_1986del (p.Lys662fs) rs762804291
NM_000057.4(BLM):c.1986A>G (p.Lys662=)
NM_000057.4(BLM):c.1987T>A (p.Phe663Ile)
NM_000057.4(BLM):c.198T>C (p.Asn66=) rs1410899563
NM_000057.4(BLM):c.1991_1992insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCNNNNNNNNNNACGGGTCGCTGGCGTTGAGCCGCTTTTGCCCCACTCACGTCCGCCGTCCCCCCGGGGCTACACAGCCATAAACCTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTGG (p.Leu665fs)
NM_000057.4(BLM):c.1992C>G (p.Gly664=) rs886043359
NM_000057.4(BLM):c.1993C>T (p.Leu665=) rs2151160690
NM_000057.4(BLM):c.1995G>A (p.Leu665=)
NM_000057.4(BLM):c.1995G>C (p.Leu665=) rs2151160697
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>C (p.Met1Leu) rs1215497457
NM_000057.4(BLM):c.1A>G (p.Met1Val)
NM_000057.4(BLM):c.2004T>C (p.Phe668=)
NM_000057.4(BLM):c.2005A>T (p.Arg669Ter) rs1596232266
NM_000057.4(BLM):c.2016G>A (p.Gln672=) rs986590937
NM_000057.4(BLM):c.2016G>C (p.Gln672His)
NM_000057.4(BLM):c.2019A>G (p.Leu673=) rs2151160712
NM_000057.4(BLM):c.2020G>T (p.Glu674Ter)
NM_000057.4(BLM):c.2022G>A (p.Glu674=) rs1596232275
NM_000057.4(BLM):c.2023dup (p.Ala675fs)
NM_000057.4(BLM):c.2024C>G (p.Ala675Gly)
NM_000057.4(BLM):c.2028C>T (p.Ile676=) rs2151160730
NM_000057.4(BLM):c.2031T>C (p.Asn677=)
NM_000057.4(BLM):c.2032G>T (p.Ala678Ser)
NM_000057.4(BLM):c.2034T>C (p.Ala678=) rs2151160740
NM_000057.4(BLM):c.2035G>A (p.Ala679Thr) rs1896031109
NM_000057.4(BLM):c.2037A>C (p.Ala679=)
NM_000057.4(BLM):c.2043T>C (p.Leu681=) rs2151160770
NM_000057.4(BLM):c.2046T>C (p.Gly682=)
NM_000057.4(BLM):c.2046T>G (p.Gly682=) rs2151160778
NM_000057.4(BLM):c.204C>A (p.Thr68=) rs199927688
NM_000057.4(BLM):c.204C>G (p.Thr68=) rs199927688
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.2054_2055del (p.Cys685fs)
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.2070G>T (p.Pro690=) rs148078150
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+10T>C
NM_000057.4(BLM):c.2074+12dup
NM_000057.4(BLM):c.2074+13A>G
NM_000057.4(BLM):c.2074+14G>C
NM_000057.4(BLM):c.2074+17G>C rs902634692
NM_000057.4(BLM):c.2074+18T>C rs2151160869
NM_000057.4(BLM):c.2074+1G>T rs367543036
NM_000057.4(BLM):c.2074+31_2074+32insATCCCCCTCTGTGAGAAACACCCAAGAATGATCAATAAAAAAAAAAAAAAAAGAAAGAAAATAACATTCGTAACTTTGAGGAAACAGAATAAATAGGAGATTTATTAAATAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGTGAATTGGCAGGAA rs1567042315
NM_000057.4(BLM):c.2074+56G>A rs942432763
NM_000057.4(BLM):c.2074+5G>A rs587779880
NM_000057.4(BLM):c.2074+5_2074+8del
NM_000057.4(BLM):c.2074+7A>G rs1279559326
NM_000057.4(BLM):c.2074+9T>A rs2151160844
NM_000057.4(BLM):c.2075-14T>G
NM_000057.4(BLM):c.2075-15A>C
NM_000057.4(BLM):c.2075-16del
NM_000057.4(BLM):c.2075-18T>G rs2151162302
NM_000057.4(BLM):c.2075-3C>T rs1896091271
NM_000057.4(BLM):c.2075-6T>G
NM_000057.4(BLM):c.2075-7C>T
NM_000057.4(BLM):c.2075-8T>C
NM_000057.4(BLM):c.2075-9C>G rs1449433488
NM_000057.4(BLM):c.2076A>G (p.Gly692=)
NM_000057.4(BLM):c.2077G>A (p.Gly693Ser) rs565078630
NM_000057.4(BLM):c.2078del (p.Gly693fs) rs1896091563
NM_000057.4(BLM):c.2079_2080del (p.Gly693_Gly694insTer)
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.2086_2087del (p.Ser696fs)
NM_000057.4(BLM):c.2088T>C (p.Ser696=) rs2151162337
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.2091G>A (p.Leu697=) rs2151162344
NM_000057.4(BLM):c.2093_2096dup (p.Tyr699Ter) rs753973474
NM_000057.4(BLM):c.2096A>G (p.Tyr699Cys)
NM_000057.4(BLM):c.2097C>A (p.Tyr699Ter) rs1896092339
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.2103C>A (p.Leu701=) rs1596234139
NM_000057.4(BLM):c.2103C>T (p.Leu701=) rs1596234139
NM_000057.4(BLM):c.2109C>A (p.Ala703=)
NM_000057.4(BLM):c.210C>T (p.Asp70=)
NM_000057.4(BLM):c.2110T>C (p.Cys704Arg)
NM_000057.4(BLM):c.2112_2122del (p.Cys704fs)
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.2115T>A (p.Val705=) rs142787700
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.2121T>C (p.Pro707=)
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.2126T>A (p.Val709Asp) rs1896094774
NM_000057.4(BLM):c.2127C>T (p.Val709=) rs2151162440
NM_000057.4(BLM):c.2131G>A (p.Val711Ile) rs2151162449
NM_000057.4(BLM):c.2131_2132del (p.Val711fs) rs2151162445
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.213_214del (p.Ser72fs) rs960430492
NM_000057.4(BLM):c.2141C>G (p.Ser714Cys)
NM_000057.4(BLM):c.2143C>T (p.Pro715Ser) rs1060500636
NM_000057.4(BLM):c.2145del (p.Pro715_Leu716insTer)
NM_000057.4(BLM):c.2148G>A (p.Leu716=) rs2151162471
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.2160_2163dup (p.Asp722fs) rs2151162486
NM_000057.4(BLM):c.2163A>G (p.Val721=)
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.2167C>T (p.Gln723Ter) 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.2172C>T (p.Val724=) rs2151162509
NM_000057.4(BLM):c.2181G>T (p.Leu727=) rs2151162511
NM_000057.4(BLM):c.2181_2188del (p.Thr728fs)
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.2186_2187del (p.Ser729fs)
NM_000057.4(BLM):c.2187del (p.Leu730fs)
NM_000057.4(BLM):c.2188T>C (p.Leu730=) rs2151162528
NM_000057.4(BLM):c.2191G>A (p.Asp731Asn) rs1459619445
NM_000057.4(BLM):c.2193+15T>C
NM_000057.4(BLM):c.2193+16A>C rs1567043236
NM_000057.4(BLM):c.2193+16A>G
NM_000057.4(BLM):c.2193+17C>A
NM_000057.4(BLM):c.2193+1G>A rs865866188
NM_000057.4(BLM):c.2193+1_2193+9del rs1060500652
NM_000057.4(BLM):c.2193+5G>C
NM_000057.4(BLM):c.2193+8A>G rs2151162549
NM_000057.4(BLM):c.2194-12T>A
NM_000057.4(BLM):c.2194-13C>A
NM_000057.4(BLM):c.2194-16C>A
NM_000057.4(BLM):c.2194-16C>T
NM_000057.4(BLM):c.2194-17A>G rs755003821
NM_000057.4(BLM):c.2194-7T>C
NM_000057.4(BLM):c.2194-8A>C
NM_000057.4(BLM):c.2194-8A>G rs1896143206
NM_000057.4(BLM):c.2194A>T (p.Ile732Phe) rs1555420546
NM_000057.4(BLM):c.2197C>T (p.Pro733Ser)
NM_000057.4(BLM):c.2199A>G (p.Pro733=)
NM_000057.4(BLM):c.2200G>A (p.Ala734Thr) rs1301298294
NM_000057.4(BLM):c.2200G>T (p.Ala734Ser) rs1301298294
NM_000057.4(BLM):c.2204C>T (p.Thr735Ile) rs1596235743
NM_000057.4(BLM):c.2205A>G (p.Thr735=) rs757134420
NM_000057.4(BLM):c.2205A>T (p.Thr735=) rs757134420
NM_000057.4(BLM):c.2206T>C (p.Tyr736His) rs2151163786
NM_000057.4(BLM):c.2206_2207insTAGA (p.Tyr736fs) rs2151163791
NM_000057.4(BLM):c.2206dup (p.Tyr736fs) rs886051551
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.2208T>G (p.Tyr736Ter)
NM_000057.4(BLM):c.2208_2212delinsGATTC (p.Tyr736_Thr738delinsTer)
NM_000057.4(BLM):c.2208_2213delinsGATATGT (p.Tyr736_Thr738delinsTer) rs1596235791
NM_000057.4(BLM):c.2209C>A (p.Leu737Met)
NM_000057.4(BLM):c.2209C>T (p.Leu737=) rs901867383
NM_000057.4(BLM):c.220A>G (p.Ser74Gly) rs1895604535
NM_000057.4(BLM):c.2211G>T (p.Leu737=) rs933356579
NM_000057.4(BLM):c.2212A>G (p.Thr738Ala) rs1050741211
NM_000057.4(BLM):c.2213C>T (p.Thr738Ile)
NM_000057.4(BLM):c.2214A>G (p.Thr738=)
NM_000057.4(BLM):c.2215G>A (p.Gly739Ser) rs745642690
NM_000057.4(BLM):c.2217T>C (p.Gly739=)
NM_000057.4(BLM):c.2217T>G (p.Gly739=) rs1217701232
NM_000057.4(BLM):c.221G>T (p.Ser74Ile)
NM_000057.4(BLM):c.2220T>C (p.Asp740=) rs2151163848
NM_000057.4(BLM):c.2221A>T (p.Lys741Ter) rs1896146578
NM_000057.4(BLM):c.2224A>T (p.Thr742Ser) rs1596235858
NM_000057.4(BLM):c.2225del (p.Thr742fs)
NM_000057.4(BLM):c.2226T>C (p.Thr742=) rs2151163862
NM_000057.4(BLM):c.2229C>T (p.Asp743=) rs889046632
NM_000057.4(BLM):c.222T>C (p.Ser74=) rs2151146878
NM_000057.4(BLM):c.2232A>G (p.Ser744=)
NM_000057.4(BLM):c.2234A>G (p.Glu745Gly)
NM_000057.4(BLM):c.2235A>G (p.Glu745=) rs1596235875
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.2242_2255del (p.Asn748fs)
NM_000057.4(BLM):c.2246T>C (p.Ile749Thr)
NM_000057.4(BLM):c.2251C>T (p.Leu751Phe) rs1292127075
NM_000057.4(BLM):c.2253C>A (p.Leu751=) rs2151163921
NM_000057.4(BLM):c.2253C>G (p.Leu751=) rs2151163921
NM_000057.4(BLM):c.2254C>A (p.Gln752Lys) rs1424485988
NM_000057.4(BLM):c.2259A>G (p.Leu753=)
NM_000057.4(BLM):c.225A>G (p.Glu75=) rs2151146880
NM_000057.4(BLM):c.2260T>C (p.Ser754Pro) rs2151163946
NM_000057.4(BLM):c.2265A>G (p.Lys755=) rs773864863
NM_000057.4(BLM):c.2268del (p.Asp757fs) rs747341586
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.2277C>A (p.Ile759=)
NM_000057.4(BLM):c.2278A>G (p.Ile760Val) rs1896150112
NM_000057.4(BLM):c.2278A>T (p.Ile760Leu)
NM_000057.4(BLM):c.227del (p.Pro76fs) rs1299272913
NM_000057.4(BLM):c.2280A>C (p.Ile760=) rs1596236007
NM_000057.4(BLM):c.2281_2291del (p.Lys761fs) rs2151163995
NM_000057.4(BLM):c.2283A>T (p.Lys761Asn) rs1896150452
NM_000057.4(BLM):c.2284del (p.Leu762fs) rs2151164000
NM_000057.4(BLM):c.2287C>T (p.Leu763=) rs896043726
NM_000057.4(BLM):c.2288T>A (p.Leu763Gln)
NM_000057.4(BLM):c.2289A>C (p.Leu763=) rs1567044034
NM_000057.4(BLM):c.2289A>T (p.Leu763=)
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.2291_2292del (p.Tyr764fs) rs1555420602
NM_000057.4(BLM):c.2292T>G (p.Tyr764Ter) rs2151164019
NM_000057.4(BLM):c.2298T>A (p.Thr766=) rs2151164033
NM_000057.4(BLM):c.2298T>C (p.Thr766=)
NM_000057.4(BLM):c.229C>G (p.Leu77Val) rs1555418283
NM_000057.4(BLM):c.2300C>T (p.Pro767Leu)
NM_000057.4(BLM):c.2301A>C (p.Pro767=)
NM_000057.4(BLM):c.2302G>A (p.Glu768Lys) rs1060500640
NM_000057.4(BLM):c.2307+15C>A
NM_000057.4(BLM):c.2307+16A>G
NM_000057.4(BLM):c.2307+1G>A
NM_000057.4(BLM):c.2307+1G>C
NM_000057.4(BLM):c.2307+23del
NM_000057.4(BLM):c.2307+2T>G rs2151164052
NM_000057.4(BLM):c.2307+5G>A rs1596236061
NM_000057.4(BLM):c.2307+5G>C rs1596236061
NM_000057.4(BLM):c.2307+7A>G
NM_000057.4(BLM):c.2307G>A (p.Lys769=)
NM_000057.4(BLM):c.2308-12T>C
NM_000057.4(BLM):c.2308-15G>A rs761194653
NM_000057.4(BLM):c.2308-17A>G
NM_000057.4(BLM):c.2308-20C>G
NM_000057.4(BLM):c.2308-2A>G rs1248548542
NM_000057.4(BLM):c.2308-953_2555+4719del
NM_000057.4(BLM):c.2308-9C>T rs771208627
NM_000057.4(BLM):c.230dup (p.Pro78fs)
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.2316A>G (p.Ala772=) rs752835659
NM_000057.4(BLM):c.2317A>G (p.Ser773Gly)
NM_000057.4(BLM):c.2318G>A (p.Ser773Asn) rs1896222659
NM_000057.4(BLM):c.231A>C (p.Leu77=)
NM_000057.4(BLM):c.231A>G (p.Leu77=) rs760696149
NM_000057.4(BLM):c.2324_2325del (p.Arg775fs)
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.2337T>C (p.Thr779=) rs1896223602
NM_000057.4(BLM):c.233C>G (p.Pro78Arg) rs2151146905
NM_000057.4(BLM):c.2343_2344dup (p.Asn782fs) rs1555420842
NM_000057.4(BLM):c.2344A>G (p.Asn782Asp)
NM_000057.4(BLM):c.2345A>G (p.Asn782Ser) rs1896223925
NM_000057.4(BLM):c.2346T>C (p.Asn782=) rs2151165716
NM_000057.4(BLM):c.2349_2350del (p.Leu783_Tyr784insTer) rs1555420844
NM_000057.4(BLM):c.2349_2350dup (p.Tyr784fs) rs1555420844
NM_000057.4(BLM):c.234C>G (p.Pro78=) rs970793829
NM_000057.4(BLM):c.234C>T (p.Pro78=) rs970793829
NM_000057.4(BLM):c.2350T>C (p.Tyr784His)
NM_000057.4(BLM):c.2351A>T (p.Tyr784Phe)
NM_000057.4(BLM):c.2352T>C (p.Tyr784=)
NM_000057.4(BLM):c.2353_2354insTT (p.Glu785fs) rs1567045130
NM_000057.4(BLM):c.2358G>A (p.Arg786=)
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.2367G>A (p.Leu789=) rs1060500651
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.237C>T (p.Asn79=)
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.2385T>C (p.Asp795=)
NM_000057.4(BLM):c.2385del (p.Asp795fs) rs2151165798
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.2391A>C (p.Ala797=)
NM_000057.4(BLM):c.2391A>G (p.Ala797=)
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.2394T>C (p.His798=)
NM_000057.4(BLM):c.239C>T (p.Thr80Ile) rs766303926
NM_000057.4(BLM):c.2400C>A (p.Val800=)
NM_000057.4(BLM):c.2400C>T (p.Val800=)
NM_000057.4(BLM):c.2402G>C (p.Ser801Thr) rs1348827963
NM_000057.4(BLM):c.2404C>T (p.Gln802Ter) rs2151165848
NM_000057.4(BLM):c.2404_2407del (p.Gln802fs) rs1567045235
NM_000057.4(BLM):c.2406+10G>C
NM_000057.4(BLM):c.2406+11T>A
NM_000057.4(BLM):c.2406+11T>G rs1896228357
NM_000057.4(BLM):c.2406+14T>A
NM_000057.4(BLM):c.2406+16del
NM_000057.4(BLM):c.2406+16dup rs769233210
NM_000057.4(BLM):c.2406+19A>G rs2151165875
NM_000057.4(BLM):c.2406+2T>G rs367543016
NM_000057.4(BLM):c.2406+5A>G rs763104913
NM_000057.4(BLM):c.2406+8C>G rs764181989
NM_000057.4(BLM):c.2406+8C>T rs764181989
NM_000057.4(BLM):c.2406+9T>A rs2151165855
NM_000057.4(BLM):c.2407-14T>A
NM_000057.4(BLM):c.2407-16T>G rs2151166035
NM_000057.4(BLM):c.2407-17T>C
NM_000057.4(BLM):c.2407-17_2407-16insG
NM_000057.4(BLM):c.2407-18A>T
NM_000057.4(BLM):c.2407-1G>A rs1555420871
NM_000057.4(BLM):c.2407-2A>G
NM_000057.4(BLM):c.2407-5A>G rs1555420870
NM_000057.4(BLM):c.2407-6A>T rs1478497820
NM_000057.4(BLM):c.2407-7C>G
NM_000057.4(BLM):c.2407-7C>T rs768836369
NM_000057.4(BLM):c.2407-7del rs769184675
NM_000057.4(BLM):c.2407-8C>T
NM_000057.4(BLM):c.2407-9del rs747699258
NM_000057.4(BLM):c.2407-9dup rs747699258
NM_000057.4(BLM):c.2407T>A (p.Trp803Arg) rs148394770
NM_000057.4(BLM):c.2407dup (p.Trp803fs) rs367543012
NM_000057.4(BLM):c.2409G>A (p.Trp803Ter) rs1896235438
NM_000057.4(BLM):c.240C>T (p.Thr80=) rs1895606265
NM_000057.4(BLM):c.2410G>T (p.Gly804Ter) rs1412341951
NM_000057.4(BLM):c.2411del (p.Gly804fs) rs2151166065
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.2415T>C (p.His805=) 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.2420_2424del (p.Phe807fs)
NM_000057.4(BLM):c.2421T>C (p.Phe807=) rs2151166092
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.2433C>T (p.Tyr811=) rs377542595
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.2439A>G (p.Arg813=)
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.2448del (p.Met816fs) rs1896237929
NM_000057.4(BLM):c.2449C>G (p.Leu817Val)
NM_000057.4(BLM):c.2449_2450insCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGGCTCCCTCTCCCTCTCCCGGCGCGCGCTCGCGCTCCCGTGGCCGGGTGCCGCTCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGAATGAATATGC (p.Leu817fs)
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.2454C>A (p.Arg818=) rs746409922
NM_000057.4(BLM):c.2456A>C (p.Gln819Pro)
NM_000057.4(BLM):c.2456del (p.Gln819fs)
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.2469T>C (p.Ser823=) rs780438135
NM_000057.4(BLM):c.2472T>A (p.Val824=)
NM_000057.4(BLM):c.2475G>C (p.Pro825=) rs147587050
NM_000057.4(BLM):c.2476G>T (p.Val826Leu) rs1319281718
NM_000057.4(BLM):c.2478G>A (p.Val826=)
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.2490G>T (p.Thr830=)
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.2493C>T (p.Ala831=) rs2151166253
NM_000057.4(BLM):c.2493del (p.Thr832fs) rs2151166250
NM_000057.4(BLM):c.2495C>T (p.Thr832Ile)
NM_000057.4(BLM):c.2495_2496del (p.Thr832fs)
NM_000057.4(BLM):c.2496A>C (p.Thr832=) rs762840557
NM_000057.4(BLM):c.2499T>C (p.Ala833=)
NM_000057.4(BLM):c.249G>A (p.Gln83=) rs1430623511
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.2502T>C (p.Asn834=) rs2151166275
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.2506del (p.Arg836fs) rs1567045531
NM_000057.4(BLM):c.2508G>A (p.Arg836=) rs2151166304
NM_000057.4(BLM):c.2510_2513dup (p.Gln838fs)
NM_000057.4(BLM):c.2512C>A (p.Gln838Lys) rs2151166312
NM_000057.4(BLM):c.2514G>A (p.Gln838=) rs2151166322
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.2516del (p.Lys839fs)
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.2520C>T (p.Asp840=)
NM_000057.4(BLM):c.2522T>C (p.Ile841Thr) rs767086502
NM_000057.4(BLM):c.2523C>T (p.Ile841=)
NM_000057.4(BLM):c.2528C>T (p.Thr843Ile) rs137853152
NM_000057.4(BLM):c.2529T>C (p.Thr843=) rs2151166372
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.2537A>C (p.Lys846Thr) rs2151166394
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.2539del (p.Ile847fs) rs770751979
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.2544C>G (p.Leu848=)
NM_000057.4(BLM):c.2548C>T (p.Pro850Ser)
NM_000057.4(BLM):c.2548_2555+12del
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+10T>C rs2151166449
NM_000057.4(BLM):c.2555+13A>C
NM_000057.4(BLM):c.2555+13A>G
NM_000057.4(BLM):c.2555+13A>T
NM_000057.4(BLM):c.2555+15G>C rs376896850
NM_000057.4(BLM):c.2555+16_2555+17delinsAT rs2151166465
NM_000057.4(BLM):c.2555+17C>G rs747061490
NM_000057.4(BLM):c.2555+17C>T
NM_000057.4(BLM):c.2555+17del
NM_000057.4(BLM):c.2555+19C>A
NM_000057.4(BLM):c.2555+19C>T
NM_000057.4(BLM):c.2555+1G>A
NM_000057.4(BLM):c.2555+1G>T rs1555420917
NM_000057.4(BLM):c.2555+20G>C
NM_000057.4(BLM):c.2555+20G>T rs762930185
NM_000057.4(BLM):c.2555+5del
NM_000057.4(BLM):c.2555+6T>C rs1596238993
NM_000057.4(BLM):c.2555+7_2555+8inv
NM_000057.4(BLM):c.2556-10A>G
NM_000057.4(BLM):c.2556-11G>A
NM_000057.4(BLM):c.2556-11G>C
NM_000057.4(BLM):c.2556-12G>A
NM_000057.4(BLM):c.2556-12G>C rs2151177995
NM_000057.4(BLM):c.2556-130C>T rs28385056
NM_000057.4(BLM):c.2556-18T>C
NM_000057.4(BLM):c.2556-18T>G rs2151177989
NM_000057.4(BLM):c.2556-19A>G
NM_000057.4(BLM):c.2556-19A>T
NM_000057.4(BLM):c.2556-1G>T rs1896650174
NM_000057.4(BLM):c.2556-2A>G rs1596250255
NM_000057.4(BLM):c.2556-7T>C
NM_000057.4(BLM):c.2556-8T>A rs1567052156
NM_000057.4(BLM):c.2556-8T>C rs1567052156
NM_000057.4(BLM):c.2556-8T>G rs1567052156
NM_000057.4(BLM):c.2556G>T (p.Val852=) rs1896650229
NM_000057.4(BLM):c.2559del (p.Phe853fs) rs2151178019
NM_000057.4(BLM):c.255G>A (p.Arg85=)
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.2570T>C (p.Phe857Ser) rs1567052169
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.2576_2577del (p.Arg859fs) rs1567052178
NM_000057.4(BLM):c.2579A>G (p.His860Arg)
NM_000057.4(BLM):c.2579del (p.His860fs) rs2151178044
NM_000057.4(BLM):c.2580_2581del (p.His860fs) rs864622347
NM_000057.4(BLM):c.2583T>C (p.Asn861=) rs1896651230
NM_000057.4(BLM):c.2584C>A (p.Leu862Met)
NM_000057.4(BLM):c.2584C>G (p.Leu862Val) rs1596250300
NM_000057.4(BLM):c.2592C>G (p.Tyr864Ter) rs1896651394
NM_000057.4(BLM):c.2594A>C (p.Tyr865Ser) rs777842626
NM_000057.4(BLM):c.2594_2598del (p.Tyr865fs)
NM_000057.4(BLM):c.2595T>A (p.Tyr865Ter) rs1060503989
NM_000057.4(BLM):c.2595T>C (p.Tyr865=) rs1060503989
NM_000057.4(BLM):c.2596G>A (p.Val866Ile) rs1316728192
NM_000057.4(BLM):c.2598A>G (p.Val866=) rs574053990
NM_000057.4(BLM):c.25C>T (p.Leu9=) rs1596215640
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.2603_2605delinsTAG (p.Pro868_Lys869delinsLeuGlu)
NM_000057.4(BLM):c.2603_2614delinsTAGAAAAGACT (p.Pro868fs)
NM_000057.4(BLM):c.2603del (p.Pro868fs)
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.2620del (p.Val874fs)
NM_000057.4(BLM):c.2622G>A (p.Val874=) rs760261440
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.2637A>G (p.Leu879=) rs1896653550
NM_000057.4(BLM):c.2639A>G (p.Glu880Gly) rs2151178151
NM_000057.4(BLM):c.2640A>G (p.Glu880=) rs1301492880
NM_000057.4(BLM):c.2642G>A (p.Trp881Ter)
NM_000057.4(BLM):c.2643G>A (p.Trp881Ter) rs367543039
NM_000057.4(BLM):c.2643G>C (p.Trp881Cys) rs367543039
NM_000057.4(BLM):c.2643G>T (p.Trp881Cys)
NM_000057.4(BLM):c.2646C>T (p.Ile882=) rs760072975
NM_000057.4(BLM):c.2647A>G (p.Arg883Gly) rs1035944262
NM_000057.4(BLM):c.2649A>G (p.Arg883=)
NM_000057.4(BLM):c.264C>T (p.Asp88=) rs757984551
NM_000057.4(BLM):c.264CTT[1] (p.Phe90del) rs1555418301
NM_000057.4(BLM):c.2650_2651del (p.Lys884fs) rs1596250472
NM_000057.4(BLM):c.2652G>A (p.Lys884=) rs1596250475
NM_000057.4(BLM):c.2653C>T (p.His885Tyr) rs2151178164
NM_000057.4(BLM):c.2654_2660delinsTG (p.His885fs)
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+11C>G
NM_000057.4(BLM):c.2662+11C>T
NM_000057.4(BLM):c.2662+14T>C
NM_000057.4(BLM):c.2662+15G>A rs1335538618
NM_000057.4(BLM):c.2662+18A>G rs2151178213
NM_000057.4(BLM):c.2662+19T>C
NM_000057.4(BLM):c.2662+20T>A rs2151178215
NM_000057.4(BLM):c.2662+2T>C rs1567052324
NM_000057.4(BLM):c.2662+2T>G rs1567052324
NM_000057.4(BLM):c.2662+3G>A rs1297020716
NM_000057.4(BLM):c.2662+6T>C
NM_000057.4(BLM):c.2663-12G>A rs2151179669
NM_000057.4(BLM):c.2663-13G>A
NM_000057.4(BLM):c.2663-15T>C rs1896705664
NM_000057.4(BLM):c.2663-2A>G rs1567053170
NM_000057.4(BLM):c.2663-4G>A rs2151179676
NM_000057.4(BLM):c.2663-5G>A rs1161787867
NM_000057.4(BLM):c.2663-6T>C rs2151179672
NM_000057.4(BLM):c.2664T>A (p.Tyr888Ter)
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.2677dup (p.Ile893fs)
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.2688C>T (p.Leu896=) rs1488182321
NM_000057.4(BLM):c.2689T>C (p.Ser897Pro) rs1896706876
NM_000057.4(BLM):c.2694G>A (p.Arg898=) rs2151179730
NM_000057.4(BLM):c.2695C>A (p.Arg899=)
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.2706C>T (p.Asp902=) rs1219646041
NM_000057.4(BLM):c.2708C>A (p.Thr903Asn) rs777584683
NM_000057.4(BLM):c.2709C>G (p.Thr903=) rs1555422522
NM_000057.4(BLM):c.2709C>T (p.Thr903=) rs1555422522
NM_000057.4(BLM):c.2711T>C (p.Met904Thr)
NM_000057.4(BLM):c.2713G>A (p.Ala905Thr) rs1596252085
NM_000057.4(BLM):c.2715T>C (p.Ala905=)
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.2720_2726del (p.Thr907fs) rs1057516452
NM_000057.4(BLM):c.2721dup (p.Leu908fs)
NM_000057.4(BLM):c.2722T>C (p.Leu908=)
NM_000057.4(BLM):c.2724A>G (p.Leu908=) rs1052357089
NM_000057.4(BLM):c.2725C>G (p.Gln909Glu) rs1456964727
NM_000057.4(BLM):c.2725C>T (p.Gln909Ter) 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.2727G>A (p.Gln909=) rs2151179788
NM_000057.4(BLM):c.2729G>C (p.Arg910Thr) rs1567053290
NM_000057.4(BLM):c.2730A>G (p.Arg910=)
NM_000057.4(BLM):c.2732A>T (p.Asp911Val) rs1596252149
NM_000057.4(BLM):c.2733T>C (p.Asp911=)
NM_000057.4(BLM):c.2735G>A (p.Gly912Glu) rs2151179803
NM_000057.4(BLM):c.2739C>A (p.Leu913=) rs759223856
NM_000057.4(BLM):c.2742T>C (p.Ala914=)
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.2748T>G (p.Leu916=) rs2151179825
NM_000057.4(BLM):c.2755C>A (p.His919Asn) rs1284859576
NM_000057.4(BLM):c.2755C>G (p.His919Asp)
NM_000057.4(BLM):c.2756del (p.His919fs)
NM_000057.4(BLM):c.2757T>C (p.His919=) rs2151179837
NM_000057.4(BLM):c.2759C>G (p.Ala920Gly)
NM_000057.4(BLM):c.2760T>C (p.Ala920=) rs1321253830
NM_000057.4(BLM):c.2760T>G (p.Ala920=) rs1321253830
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.2769T>C (p.Ser923=) rs1596252204
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.2775T>C (p.Ser925=) rs1596252208
NM_000057.4(BLM):c.2776G>T (p.Ala926Ser) rs1896710799
NM_000057.4(BLM):c.2778C>G (p.Ala926=)
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.2781del (p.Asp928fs)
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.2790G>A (p.Val930=)
NM_000057.4(BLM):c.2791C>T (p.Gln931Ter)
NM_000057.4(BLM):c.2791_2801del (p.Gln931fs)
NM_000057.4(BLM):c.2792A>G (p.Gln931Arg) rs1178355159
NM_000057.4(BLM):c.2793G>A (p.Gln931=) rs1192168118
NM_000057.4(BLM):c.2794C>T (p.Gln932Ter) rs2151179928
NM_000057.4(BLM):c.2797A>G (p.Lys933Glu)
NM_000057.4(BLM):c.27A>G (p.Leu9=) rs2151145006
NM_000057.4(BLM):c.2801G>A (p.Trp934Ter) rs1896712163
NM_000057.4(BLM):c.2802G>T (p.Trp934Cys) rs2151179931
NM_000057.4(BLM):c.2807del (p.Asn936fs) rs1245531016
NM_000057.4(BLM):c.2809C>T (p.Gln937Ter) rs1596252279
NM_000057.4(BLM):c.280C>T (p.Pro94Ser) rs1417089374
NM_000057.4(BLM):c.2814T>A (p.Asp938Glu)
NM_000057.4(BLM):c.2818dup (p.Cys940fs) rs2151179952
NM_000057.4(BLM):c.2821C>T (p.Gln941Ter) rs1057516700
NM_000057.4(BLM):c.2823+11T>A
NM_000057.4(BLM):c.2823+12A>G
NM_000057.4(BLM):c.2823+15G>C rs750620938
NM_000057.4(BLM):c.2823+19A>T
NM_000057.4(BLM):c.2823+20A>C
NM_000057.4(BLM):c.2823+21_2823+24del rs2151179993
NM_000057.4(BLM):c.2823+9T>C
NM_000057.4(BLM):c.2823G>A (p.Gln941=)
NM_000057.4(BLM):c.2823_2823+3del
NM_000057.4(BLM):c.2824-10T>C
NM_000057.4(BLM):c.2824-12C>T rs1314614444
NM_000057.4(BLM):c.2824-14T>C
NM_000057.4(BLM):c.2824-17T>G
NM_000057.4(BLM):c.2824-1G>C rs1555423062
NM_000057.4(BLM):c.2824-2A>C rs745538883
NM_000057.4(BLM):c.2824-3C>T rs2151184427
NM_000057.4(BLM):c.2824-7A>G rs374616797
NM_000057.4(BLM):c.2824-7A>T rs374616797
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.2832T>C (p.Cys944=)
NM_000057.4(BLM):c.2833G>A (p.Ala945Thr) rs1896880211
NM_000057.4(BLM):c.2833G>T (p.Ala945Ser)
NM_000057.4(BLM):c.2835T>C (p.Ala945=)
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.2838A>T (p.Thr946=) rs200850440
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.2844A>G (p.Ala948=)
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.2851_2857del (p.Met951fs) rs1309932713
NM_000057.4(BLM):c.2853G>C (p.Met951Ile)
NM_000057.4(BLM):c.2853G>T (p.Met951Ile) rs1896881384
NM_000057.4(BLM):c.2855G>C (p.Gly952Ala)
NM_000057.4(BLM):c.2858T>C (p.Ile953Thr) rs587778102
NM_000057.4(BLM):c.2859T>C (p.Ile953=)
NM_000057.4(BLM):c.2862C>T (p.Asp954=) rs907953613
NM_000057.4(BLM):c.2865A>G (p.Lys955=) rs1896882039
NM_000057.4(BLM):c.2868_2869insTCCG (p.Asp957fs)
NM_000057.4(BLM):c.2872G>T (p.Val958Leu)
NM_000057.4(BLM):c.2873T>A (p.Val958Glu) rs1555423088
NM_000057.4(BLM):c.2874G>A (p.Val958=) rs2151184510
NM_000057.4(BLM):c.2875C>A (p.Arg959=) rs762354041
NM_000057.4(BLM):c.2875C>T (p.Arg959Ter) rs762354041
NM_000057.4(BLM):c.2877A>T (p.Arg959=)
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.2889T>C (p.His963=)
NM_000057.4(BLM):c.288A>G (p.Gly96=) rs2151147023
NM_000057.4(BLM):c.2890G>A (p.Ala964Thr)
NM_000057.4(BLM):c.2891C>T (p.Ala964Val)
NM_000057.4(BLM):c.2892A>C (p.Ala964=) rs973389134
NM_000057.4(BLM):c.2892A>G (p.Ala964=) rs973389134
NM_000057.4(BLM):c.2893T>A (p.Ser965Thr) rs1349078237
NM_000057.4(BLM):c.2895T>A (p.Ser965=) rs2151184545
NM_000057.4(BLM):c.2897T>C (p.Leu966Pro)
NM_000057.4(BLM):c.2898C>T (p.Leu966=) rs201220226
NM_000057.4(BLM):c.28C>T (p.Gln10Ter)
NM_000057.4(BLM):c.2900C>A (p.Pro967His) rs2151184560
NM_000057.4(BLM):c.2900C>G (p.Pro967Arg)
NM_000057.4(BLM):c.2900del (p.Pro967fs) rs2151184555
NM_000057.4(BLM):c.2901T>A (p.Pro967=)
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.2917del (p.Tyr973fs) rs2151184585
NM_000057.4(BLM):c.2921A>C (p.Tyr974Ser) rs1051102270
NM_000057.4(BLM):c.2923C>T (p.Gln975Ter)
NM_000057.4(BLM):c.2923del (p.Gln975fs) rs367543014
NM_000057.4(BLM):c.2925A>T (p.Gln975His)
NM_000057.4(BLM):c.2926G>T (p.Glu976Ter)
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.2934C>A (p.Gly978=) rs2151184603
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.2940T>C (p.Ala980=) rs1596257223
NM_000057.4(BLM):c.2940T>G (p.Ala980=) rs1596257223
NM_000057.4(BLM):c.2942G>C (p.Gly981Ala)
NM_000057.4(BLM):c.2945G>A (p.Arg982Lys) rs1281589498
NM_000057.4(BLM):c.2947G>T (p.Asp983Tyr) rs1896886181
NM_000057.4(BLM):c.2948A>T (p.Asp983Val) rs1896886266
NM_000057.4(BLM):c.2949T>C (p.Asp983=) rs2151184627
NM_000057.4(BLM):c.294A>G (p.Glu98=) rs2151147036
NM_000057.4(BLM):c.2952G>A (p.Gly984=)
NM_000057.4(BLM):c.2955A>C (p.Glu985Asp)
NM_000057.4(BLM):c.2957T>C (p.Ile986Thr) rs1060500631
NM_000057.4(BLM):c.2957del (p.Ile986fs)
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.2968C>T (p.Leu990=)
NM_000057.4(BLM):c.2970G>A (p.Leu990=)
NM_000057.4(BLM):c.2973T>C (p.Leu991=) rs2151184673
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.2980del (p.Thr994fs) rs1164844135
NM_000057.4(BLM):c.2982C>G (p.Thr994=) rs2151184697
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.298_299del (p.Gln100fs) rs745807085
NM_000057.4(BLM):c.2991_2995del (p.Val998fs) rs2151184718
NM_000057.4(BLM):c.2994G>A (p.Val998=) rs1596257300
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.299dup (p.Arg101fs)
NM_000057.4(BLM):c.2T>C (p.Met1Thr) rs1057516593
NM_000057.4(BLM):c.3000A>T (p.Arg1000Ser) rs1395403568
NM_000057.4(BLM):c.3007A>T (p.Arg1003Ter)
NM_000057.4(BLM):c.300G>A (p.Gln100=) rs2151147068
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.3011_3012del (p.Leu1004fs) rs2151184759
NM_000057.4(BLM):c.3012T>C (p.Leu1004=) rs2151184763
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.3014_3015insTATCA (p.Met1006fs) rs797045115
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.3016_3017del (p.Met1006fs) rs1555423119
NM_000057.4(BLM):c.3017T>A (p.Met1006Lys) rs1896890020
NM_000057.4(BLM):c.3019+10G>T
NM_000057.4(BLM):c.3019+12T>G
NM_000057.4(BLM):c.3019+13C>T rs942808732
NM_000057.4(BLM):c.3019+14C>T
NM_000057.4(BLM):c.3019+15A>G
NM_000057.4(BLM):c.3019+19T>C rs1896890749
NM_000057.4(BLM):c.3019+20A>G
NM_000057.4(BLM):c.3019+23_3019+24del
NM_000057.4(BLM):c.3019+7T>A rs761087545
NM_000057.4(BLM):c.3019+9G>A rs771124658
NM_000057.4(BLM):c.3019+9G>C rs771124658
NM_000057.4(BLM):c.301_304del (p.Arg101fs) rs1489224386
NM_000057.4(BLM):c.3020-11A>C rs1331229405
NM_000057.4(BLM):c.3020-16T>G
NM_000057.4(BLM):c.3020-19T>A rs1896970434
NM_000057.4(BLM):c.3020-19T>C
NM_000057.4(BLM):c.3020-20A>G rs2151187095
NM_000057.4(BLM):c.3020-3T>C rs1896971029
NM_000057.4(BLM):c.3020-3del rs1596259793
NM_000057.4(BLM):c.3020-4T>A
NM_000057.4(BLM):c.3020-4T>C
NM_000057.4(BLM):c.3020-4T>G
NM_000057.4(BLM):c.3020-4_3020-3del rs1596259793
NM_000057.4(BLM):c.3020-7C>G rs1596259789
NM_000057.4(BLM):c.3020-7C>T rs1596259789
NM_000057.4(BLM):c.3020-7_3020-5del rs1596259785
NM_000057.4(BLM):c.3022del (p.Glu1008fs) rs1057516719
NM_000057.4(BLM):c.3023A>T (p.Glu1008Val) rs1896971371
NM_000057.4(BLM):c.3026_3041dup (p.His1014fs)
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.3036C>T (p.Asn1012=)
NM_000057.4(BLM):c.3038A>G (p.His1013Arg) rs2151187153
NM_000057.4(BLM):c.3039T>C (p.His1013=) rs747406569
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.3045A>G (p.Thr1015=) rs966206627
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.3048A>G (p.Arg1016=)
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.3057C>T (p.His1019=) rs539573731
NM_000057.4(BLM):c.305G>A (p.Gly102Asp) rs1186813751
NM_000057.4(BLM):c.3061A>G (p.Asn1021Asp) rs374105075
NM_000057.4(BLM):c.3062A>T (p.Asn1021Ile) rs369629509
NM_000057.4(BLM):c.3065A>C (p.Asn1022Thr) rs1567058281
NM_000057.4(BLM):c.3068del (p.Leu1023fs)
NM_000057.4(BLM):c.3069del (p.Leu1023fs)
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.3079_3080del (p.Val1027fs)
NM_000057.4(BLM):c.3080T>C (p.Val1027Ala) rs373868675
NM_000057.4(BLM):c.3081A>G (p.Val1027=)
NM_000057.4(BLM):c.3083A>G (p.His1028Arg) rs1487267563
NM_000057.4(BLM):c.3083A>T (p.His1028Leu)
NM_000057.4(BLM):c.3087C>G (p.Tyr1029Ter) rs1896974524
NM_000057.4(BLM):c.3087C>T (p.Tyr1029=)
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.3093A>G (p.Glu1031=) rs2151187267
NM_000057.4(BLM):c.3094A>T (p.Asn1032Tyr) rs1311585637
NM_000057.4(BLM):c.3095dup (p.Asn1032fs)
NM_000057.4(BLM):c.30G>A (p.Gln10=) rs2151145010
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.3102_3103delinsAT (p.Glu1035Ter)
NM_000057.4(BLM):c.3106T>A (p.Cys1036Ser)
NM_000057.4(BLM):c.3107G>T (p.Cys1036Phe) rs137853153
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.3118C>T (p.Gln1040Ter)
NM_000057.4(BLM):c.311C>A (p.Ser104Ter) rs367543030
NM_000057.4(BLM):c.3120G>A (p.Gln1040=) rs1567058364
NM_000057.4(BLM):c.3121C>T (p.Leu1041Phe) rs1224723855
NM_000057.4(BLM):c.3125del (p.Leu1042fs) rs1896976755
NM_000057.4(BLM):c.3128C>T (p.Ala1043Val) rs2229035
NM_000057.4(BLM):c.3129C>T (p.Ala1043=) rs1896977206
NM_000057.4(BLM):c.312A>G (p.Ser104=) rs2151147095
NM_000057.4(BLM):c.3131A>C (p.Tyr1044Ser)
NM_000057.4(BLM):c.3132C>T (p.Tyr1044=) rs2151187348
NM_000057.4(BLM):c.3135T>C (p.Phe1045=) rs1596260013
NM_000057.4(BLM):c.3135T>G (p.Phe1045Leu)
NM_000057.4(BLM):c.3136G>C (p.Gly1046Arg) rs373241803
NM_000057.4(BLM):c.3141A>G (p.Glu1047=) rs1596260028
NM_000057.4(BLM):c.3143A>G (p.Asn1048Ser)
NM_000057.4(BLM):c.3145G>T (p.Gly1049Ter) rs1188753950
NM_000057.4(BLM):c.3146G>A (p.Gly1049Glu) rs2151187363
NM_000057.4(BLM):c.3147A>G (p.Gly1049=)
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.3153T>C (p.Asn1051=) 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.315A>G (p.Lys105=) rs2151147097
NM_000057.4(BLM):c.3160T>G (p.Phe1054Val) rs2151187383
NM_000057.4(BLM):c.3163dup (p.Cys1055fs) rs2151187381
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr) rs367543029
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser) rs367543029
NM_000057.4(BLM):c.3167A>G (p.Lys1056Arg) rs1465842377
NM_000057.4(BLM):c.3171A>G (p.Lys1057=) rs2151187399
NM_000057.4(BLM):c.3171A>T (p.Lys1057Asn)
NM_000057.4(BLM):c.3171_3172insT (p.His1058fs)
NM_000057.4(BLM):c.3174C>T (p.His1058=)
NM_000057.4(BLM):c.3180T>C (p.Asp1060=) rs749458622
NM_000057.4(BLM):c.3181G>A (p.Val1061Ile)
NM_000057.4(BLM):c.3181G>T (p.Val1061Phe)
NM_000057.4(BLM):c.3186T>A (p.Ser1062=) rs774258877
NM_000057.4(BLM):c.3188G>A (p.Cys1063Tyr) rs2151187434
NM_000057.4(BLM):c.3188G>T (p.Cys1063Phe)
NM_000057.4(BLM):c.3189T>C (p.Cys1063=)
NM_000057.4(BLM):c.318A>C (p.Ser106=) rs2151147103
NM_000057.4(BLM):c.318ATT[1] (p.Leu108del) rs1555418313
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.3201T>C (p.Cys1067=)
NM_000057.4(BLM):c.3207A>G (p.Thr1069=)
NM_000057.4(BLM):c.320dup (p.Leu107fs) rs781221411
NM_000057.4(BLM):c.3210+10_3210+11del
NM_000057.4(BLM):c.3210+11_3210+13del rs1896980675
NM_000057.4(BLM):c.3210+14T>G rs2151187475
NM_000057.4(BLM):c.3210+15T>G
NM_000057.4(BLM):c.3210+16T>G
NM_000057.4(BLM):c.3210+17T>C
NM_000057.4(BLM):c.3210+1G>A
NM_000057.4(BLM):c.3210+20A>C rs2151187481
NM_000057.4(BLM):c.3210+3A>G
NM_000057.4(BLM):c.3210+3A>T rs2151187459
NM_000057.4(BLM):c.3210+8A>G
NM_000057.4(BLM):c.3210+9del
NM_000057.4(BLM):c.3210+9dup rs1233313033
NM_000057.4(BLM):c.3211-14_3211-13del
NM_000057.4(BLM):c.3211-2A>G
NM_000057.4(BLM):c.3211-3T>C rs1897074828
NM_000057.4(BLM):c.3211-4A>G rs2151190224
NM_000057.4(BLM):c.3211-5C>G
NM_000057.4(BLM):c.3211-7T>A
NM_000057.4(BLM):c.3211-8A>C rs2151190221
NM_000057.4(BLM):c.3211-8A>G
NM_000057.4(BLM):c.3212A>G (p.Asp1071Gly) rs1897075069
NM_000057.4(BLM):c.3213T>C (p.Asp1071=) rs2151190236
NM_000057.4(BLM):c.3215A>T (p.Tyr1072Phe)
NM_000057.4(BLM):c.3221C>G (p.Thr1074Arg) rs144021705
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs) rs1555423753
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.322T>C (p.Leu108=) rs1596218180
NM_000057.4(BLM):c.3230T>C (p.Val1077Ala)
NM_000057.4(BLM):c.3231G>C (p.Val1077=)
NM_000057.4(BLM):c.3233C>G (p.Thr1078Ser) rs1897076116
NM_000057.4(BLM):c.3234T>C (p.Thr1078=) rs2151190271
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.3249T>C (p.Ser1083=) rs763642876
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.3261T>C (p.Phe1087=)
NM_000057.4(BLM):c.3261del (p.Phe1087fs) rs1319786857
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.3265del (p.Gln1089fs)
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.3278C>G (p.Ser1093Ter) rs367543017
NM_000057.4(BLM):c.3279A>G (p.Ser1093=)
NM_000057.4(BLM):c.327A>G (p.Pro109=) rs2151147129
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.3288A>G (p.Gly1096=) rs1897079440
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.3299del (p.Ile1100fs)
NM_000057.4(BLM):c.3304C>T (p.His1102Tyr)
NM_000057.4(BLM):c.3305_3306del (p.His1102fs) rs1057516253
NM_000057.4(BLM):c.3306T>C (p.His1102=)
NM_000057.4(BLM):c.3309A>C (p.Val1103=) rs772290769
NM_000057.4(BLM):c.3313C>G (p.Pro1105Ala)
NM_000057.4(BLM):c.3314C>T (p.Pro1105Leu)
NM_000057.4(BLM):c.3315T>C (p.Pro1105=) rs2151190437
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.3330T>A (p.Thr1110=)
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.333C>T (p.Phe111=) rs1895610686
NM_000057.4(BLM):c.3340C>T (p.Leu1114=) rs1567060305
NM_000057.4(BLM):c.3345C>G (p.Val1115=) rs773893026
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.3355T>C (p.Leu1119=) rs201847046
NM_000057.4(BLM):c.3357G>C (p.Leu1119Phe)
NM_000057.4(BLM):c.3358+10C>G rs2151190528
NM_000057.4(BLM):c.3358+13T>C
NM_000057.4(BLM):c.3358+16T>G rs766854886
NM_000057.4(BLM):c.3358+18A>C
NM_000057.4(BLM):c.3358+1G>A
NM_000057.4(BLM):c.3358+1G>T
NM_000057.4(BLM):c.3358+4A>G rs1897083090
NM_000057.4(BLM):c.3358+5G>C rs2151190518
NM_000057.4(BLM):c.3358+7C>T rs2151190522
NM_000057.4(BLM):c.3358+7_3358+13del rs1555423799
NM_000057.4(BLM):c.3358+9T>C rs1555423800
NM_000057.4(BLM):c.3358G>C (p.Gly1120Arg) rs139773499
NM_000057.4(BLM):c.3359-10T>G rs2151194125
NM_000057.4(BLM):c.3359-15G>A rs2151194113
NM_000057.4(BLM):c.3359-16T>G
NM_000057.4(BLM):c.3359-18C>T rs2151194105
NM_000057.4(BLM):c.3359-19T>C rs2151194101
NM_000057.4(BLM):c.3359-1G>A
NM_000057.4(BLM):c.3359-2A>G
NM_000057.4(BLM):c.3359-3C>G rs765552044
NM_000057.4(BLM):c.3359-4T>A rs2151194132
NM_000057.4(BLM):c.3359-5A>G rs1278436608
NM_000057.4(BLM):c.3359-6T>C
NM_000057.4(BLM):c.3359-7T>A
NM_000057.4(BLM):c.3359-7T>C
NM_000057.4(BLM):c.3359-8C>G rs2151194128
NM_000057.4(BLM):c.335T>C (p.Leu112Ser) rs1038386076
NM_000057.4(BLM):c.3360G>A (p.Gly1120=) rs1567062602
NM_000057.4(BLM):c.3360G>T (p.Gly1120=) rs1567062602
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.3367_3368del (p.Ser1123fs) rs2151194158
NM_000057.4(BLM):c.3371C>T (p.Ala1124Val) rs751765688
NM_000057.4(BLM):c.3372A>G (p.Ala1124=) rs1897212519
NM_000057.4(BLM):c.3379C>T (p.Gln1127Ter) rs1897212605
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.3384A>G (p.Ser1128=) rs2151194181
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.3399A>G (p.Lys1133=) rs2151194213
NM_000057.4(BLM):c.339G>A (p.Gln113=)
NM_000057.4(BLM):c.33G>A (p.Glu11=) rs1895533244
NM_000057.4(BLM):c.3400G>A (p.Gly1134Arg) rs1057516774
NM_000057.4(BLM):c.3400G>T (p.Gly1134Ter) 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.3411T>C (p.Tyr1137=)
NM_000057.4(BLM):c.3412T>G (p.Ser1138Ala)
NM_000057.4(BLM):c.3413C>T (p.Ser1138Leu)
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.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.3421delinsTTTTT (p.Asn1141fs)
NM_000057.4(BLM):c.3426C>G (p.Ala1142=) rs147148171
NM_000057.4(BLM):c.342T>C (p.Thr114=) rs746257638
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.3437_3438del (p.Leu1145_Phe1146insTer)
NM_000057.4(BLM):c.3438_3439del (p.Phe1146fs) rs2151194257
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.3447G>A (p.Leu1149=) rs1195487968
NM_000057.4(BLM):c.344C>A (p.Pro115Gln)
NM_000057.4(BLM):c.3450A>T (p.Ile1150=)
NM_000057.4(BLM):c.3452T>G (p.Leu1151Arg) rs1897215897
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.345G>C (p.Pro115=) rs374578971
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.3467del (p.Asp1156fs)
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.3475_3476del (p.Leu1159fs) rs367543033
NM_000057.4(BLM):c.3477A>G (p.Leu1159=) rs2151194319
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>C (p.Asn1162=)
NM_000057.4(BLM):c.3486T>G (p.Asn1162Lys)
NM_000057.4(BLM):c.348G>A (p.Lys116=) rs749535664
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.3495C>G (p.Asp1165Glu) rs767536788
NM_000057.4(BLM):c.3495C>T (p.Asp1165=)
NM_000057.4(BLM):c.3496C>G (p.Gln1166Glu) rs1596267627
NM_000057.4(BLM):c.3496C>T (p.Gln1166Ter) 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.3498G>A (p.Gln1166=)
NM_000057.4(BLM):c.3499del (p.Ala1167fs) rs1555424305
NM_000057.4(BLM):c.3500C>G (p.Ala1167Gly) rs987150263
NM_000057.4(BLM):c.3501G>T (p.Ala1167=) rs752559933
NM_000057.4(BLM):c.3502A>T (p.Ile1168Phe)
NM_000057.4(BLM):c.3503T>C (p.Ile1168Thr) rs1897218823
NM_000057.4(BLM):c.3504C>A (p.Ile1168=) rs758199564
NM_000057.4(BLM):c.3508del (p.Tyr1170fs) rs1555424311
NM_000057.4(BLM):c.3509A>T (p.Tyr1170Phe) rs746692894
NM_000057.4(BLM):c.3510T>A (p.Tyr1170Ter)
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.3519C>A (p.Leu1173=)
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.3525T>C (p.Asn1175=)
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.3531C>T (p.Ala1177=) rs2227934
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.3535del (p.Thr1179fs)
NM_000057.4(BLM):c.3536C>T (p.Thr1179Ile) rs1555424324
NM_000057.4(BLM):c.3541C>T (p.Leu1181=)
NM_000057.4(BLM):c.3545A>G (p.Asn1182Ser) rs767771169
NM_000057.4(BLM):c.3546T>C (p.Asn1182=) rs1596267753
NM_000057.4(BLM):c.3548G>C (p.Gly1183Ala)
NM_000057.4(BLM):c.3549C>A (p.Gly1183=)
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.3552T>C (p.Asn1184=)
NM_000057.4(BLM):c.3554_3559-116del
NM_000057.4(BLM):c.3555A>G (p.Leu1185=)
NM_000057.4(BLM):c.3557A>G (p.Lys1186Arg) rs1897221872
NM_000057.4(BLM):c.3558+10T>C
NM_000057.4(BLM):c.3558+12_3558+13del rs773935119
NM_000057.4(BLM):c.3558+18T>A rs2151194478
NM_000057.4(BLM):c.3558+1G>A rs148969222
NM_000057.4(BLM):c.3558+24_3558+28del rs745676299
NM_000057.4(BLM):c.3558+2T>C rs1897222054
NM_000057.4(BLM):c.3558+5A>G
NM_000057.4(BLM):c.3558+6G>A rs2151194465
NM_000057.4(BLM):c.3558+8A>G rs1567062884
NM_000057.4(BLM):c.3558+9T>C
NM_000057.4(BLM):c.3559-11C>G
NM_000057.4(BLM):c.3559-13C>A rs368473682
NM_000057.4(BLM):c.3559-13C>T
NM_000057.4(BLM):c.3559-14TC[3]
NM_000057.4(BLM):c.3559-15T>C
NM_000057.4(BLM):c.3559-16T>C
NM_000057.4(BLM):c.3559-17G>A
NM_000057.4(BLM):c.3559-18T>C
NM_000057.4(BLM):c.3559-1G>A rs1555424368
NM_000057.4(BLM):c.3559-4A>G rs760756587
NM_000057.4(BLM):c.3559-6A>C rs773492985
NM_000057.4(BLM):c.3559-6A>G rs773492985
NM_000057.4(BLM):c.3559-7C>A rs772254909
NM_000057.4(BLM):c.3559-7C>T rs772254909
NM_000057.4(BLM):c.3559-9C>T
NM_000057.4(BLM):c.3559G>C (p.Val1187Leu) rs547814390
NM_000057.4(BLM):c.3560T>C (p.Val1187Ala)
NM_000057.4(BLM):c.3561A>T (p.Val1187=) rs762924653
NM_000057.4(BLM):c.3563A>G (p.Asp1188Gly) rs899745787
NM_000057.4(BLM):c.3564C>T (p.Asp1188=)
NM_000057.4(BLM):c.3564del (p.Phe1189fs) rs1486692931
NM_000057.4(BLM):c.3566_3567del (p.Phe1189fs) rs1555424372
NM_000057.4(BLM):c.3569delinsAA (p.Met1190fs) rs1567063125
NM_000057.4(BLM):c.3574A>C (p.Thr1192Pro)
NM_000057.4(BLM):c.3577_3578del (p.Glu1193fs)
NM_000057.4(BLM):c.357A>G (p.Val119=)
NM_000057.4(BLM):c.357A>T (p.Val119=) rs1279217509
NM_000057.4(BLM):c.357_358del (p.Cys120fs) rs748186908
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.3587del (p.Ser1196fs) rs367543018
NM_000057.4(BLM):c.3589A>T (p.Ser1197Cys) rs1596268133
NM_000057.4(BLM):c.3589del (p.Ser1197fs) rs1555424376
NM_000057.4(BLM):c.358_359dup (p.Thr121fs)
NM_000057.4(BLM):c.3591T>C (p.Ser1197=) rs1596268143
NM_000057.4(BLM):c.3593T>C (p.Val1198Ala)
NM_000057.4(BLM):c.3601_3603del (p.Gln1201del)
NM_000057.4(BLM):c.3603A>G (p.Gln1201=) rs2151194830
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.3606A>G (p.Lys1202=)
NM_000057.4(BLM):c.3608C>G (p.Ala1203Gly) rs757088548
NM_000057.4(BLM):c.3609G>C (p.Ala1203=) rs151114049
NM_000057.4(BLM):c.3611T>C (p.Leu1204Ser)
NM_000057.4(BLM):c.3611T>G (p.Leu1204Ter)
NM_000057.4(BLM):c.3611del (p.Ala1203_Leu1204insTer)
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.3616del (p.Ala1206fs) rs2151194859
NM_000057.4(BLM):c.3617C>A (p.Ala1206Glu) rs1319362226
NM_000057.4(BLM):c.3618A>C (p.Ala1206=) rs1384318181
NM_000057.4(BLM):c.3618A>G (p.Ala1206=)
NM_000057.4(BLM):c.3619A>G (p.Lys1207Glu)
NM_000057.4(BLM):c.3622G>A (p.Val1208Met)
NM_000057.4(BLM):c.3628C>T (p.Gln1210Ter)
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.3634G>T (p.Glu1212Ter) rs1897234496
NM_000057.4(BLM):c.3636A>G (p.Glu1212=) rs1897234564
NM_000057.4(BLM):c.3638del (p.Glu1213fs) rs1057516547
NM_000057.4(BLM):c.3639G>A (p.Glu1213=)
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.3646A>T (p.Lys1216Ter) rs2151194897
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>G (p.Lys1217=) rs587779887
NM_000057.4(BLM):c.3651A>T (p.Lys1217Asn) rs587779887
NM_000057.4(BLM):c.3654T>C (p.Cys1218=) rs2151194910
NM_000057.4(BLM):c.3657T>C (p.Leu1219=)
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.3663A>G (p.Glu1221=)
NM_000057.4(BLM):c.3666T>A (p.Leu1222=) rs1301144106
NM_000057.4(BLM):c.3668C>A (p.Thr1223Lys) rs772506214
NM_000057.4(BLM):c.3668C>G (p.Thr1223Arg) rs772506214
NM_000057.4(BLM):c.3668C>T (p.Thr1223Ile) rs772506214
NM_000057.4(BLM):c.3671A>C (p.Glu1224Ala) rs1596268259
NM_000057.4(BLM):c.3678C>A (p.Cys1226Ter) rs1897236255
NM_000057.4(BLM):c.3681dup (p.Ser1228fs) rs367543020
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.3692_3693del (p.Lys1231fs) rs1234064430
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.3702T>C (p.Gly1234=) rs2151194969
NM_000057.4(BLM):c.3707A>G (p.His1236Arg)
NM_000057.4(BLM):c.370A>C (p.Asn124His) rs2151147208
NM_000057.4(BLM):c.3717T>C (p.Asn1239=)
NM_000057.4(BLM):c.3726T>C (p.Asn1242=) rs1567063258
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.3735T>A (p.Thr1245=)
NM_000057.4(BLM):c.3735T>G (p.Thr1245=)
NM_000057.4(BLM):c.3737_3738del (p.Leu1246fs) rs1897238597
NM_000057.4(BLM):c.373A>G (p.Thr125Ala) rs1895612811
NM_000057.4(BLM):c.3740A>G (p.Lys1247Arg)
NM_000057.4(BLM):c.3741G>A (p.Lys1247=) rs2151195000
NM_000057.4(BLM):c.3743A>T (p.Lys1248Met) rs1555424404
NM_000057.4(BLM):c.3744G>A (p.Lys1248=) rs1596268347
NM_000057.4(BLM):c.3744G>C (p.Lys1248Asn)
NM_000057.4(BLM):c.3747T>A (p.Leu1249=) rs776748831
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+10C>A rs199685140
NM_000057.4(BLM):c.3751+10C>G rs199685140
NM_000057.4(BLM):c.3751+11A>G rs1275107089
NM_000057.4(BLM):c.3751+11del
NM_000057.4(BLM):c.3751+12T>C
NM_000057.4(BLM):c.3751+13G>T rs2151195051
NM_000057.4(BLM):c.3751+14T>C rs2151195056
NM_000057.4(BLM):c.3751+15A>G
NM_000057.4(BLM):c.3751+17C>T
NM_000057.4(BLM):c.3751+18C>G rs2151195059
NM_000057.4(BLM):c.3751+18C>T
NM_000057.4(BLM):c.3751+1G>A rs1897239335
NM_000057.4(BLM):c.3751+21del
NM_000057.4(BLM):c.3751+2T>C rs1897239414
NM_000057.4(BLM):c.3751+3G>A
NM_000057.4(BLM):c.3751+7dup
NM_000057.4(BLM):c.3751+8C>T rs765243972
NM_000057.4(BLM):c.3751G>A (p.Glu1251Lys) rs587779888
NM_000057.4(BLM):c.3752-10C>T
NM_000057.4(BLM):c.3752-12G>T
NM_000057.4(BLM):c.3752-14A>G
NM_000057.4(BLM):c.3752-14A>T rs1897346689
NM_000057.4(BLM):c.3752-15T>G
NM_000057.4(BLM):c.3752-15del
NM_000057.4(BLM):c.3752-18T>C rs1897346458
NM_000057.4(BLM):c.3752-3C>T
NM_000057.4(BLM):c.3752-4A>G rs1489122577
NM_000057.4(BLM):c.3752-5C>A
NM_000057.4(BLM):c.3752-5C>T rs2151198253
NM_000057.4(BLM):c.3752-7T>G rs1897346976
NM_000057.4(BLM):c.3752-8T>C rs1897346891
NM_000057.4(BLM):c.3752-9T>C
NM_000057.4(BLM):c.3753del (p.Glu1251fs) rs1275708646
NM_000057.4(BLM):c.3755_3758del (p.Ser1252fs) rs2151198261
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.3758T>G (p.Leu1253Ter) rs2151198266
NM_000057.4(BLM):c.3759A>G (p.Leu1253=) rs1596271761
NM_000057.4(BLM):c.375_376del (p.Pro126fs) rs1895612617
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.3768T>C (p.Asp1256=) rs2151198276
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>A (p.Glu1258=) rs1596271783
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.3777T>A (p.Val1259=) rs2151198287
NM_000057.4(BLM):c.3778T>C (p.Leu1260=) rs2151198289
NM_000057.4(BLM):c.3778T>G (p.Leu1260Val) rs2151198289
NM_000057.4(BLM):c.3779T>A (p.Leu1260Ter)
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.3784C>T (p.Gln1262Ter)
NM_000057.4(BLM):c.3785A>G (p.Gln1262Arg)
NM_000057.4(BLM):c.3786A>G (p.Gln1262=) rs1567065650
NM_000057.4(BLM):c.378A>G (p.Pro126=)
NM_000057.4(BLM):c.3798T>C (p.Val1266=)
NM_000057.4(BLM):c.379A>G (p.Thr127Ala) rs528474170
NM_000057.4(BLM):c.379A>T (p.Thr127Ser)
NM_000057.4(BLM):c.3801T>G (p.Thr1267=)
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.3810A>G (p.Lys1270=)
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.3831A>G (p.Glu1277=) rs2151198335
NM_000057.4(BLM):c.3834G>C (p.Val1278=) rs2151198344
NM_000057.4(BLM):c.3834G>T (p.Val1278=)
NM_000057.4(BLM):c.3839C>G (p.Ser1280Ter)
NM_000057.4(BLM):c.3841G>A (p.Val1281Ile) rs1018540956
NM_000057.4(BLM):c.3841G>T (p.Val1281Leu)
NM_000057.4(BLM):c.3843A>G (p.Val1281=) rs764839828
NM_000057.4(BLM):c.3844T>C (p.Leu1282=)
NM_000057.4(BLM):c.3845del (p.Leu1282fs) rs1897350204
NM_000057.4(BLM):c.3845dup (p.Leu1282fs) rs1897350204
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter) rs367543031
NM_000057.4(BLM):c.384A>G (p.Val128=) rs2151147254
NM_000057.4(BLM):c.3854_3857del (p.Tyr1285fs) rs2151198369
NM_000057.4(BLM):c.3855C>A (p.Tyr1285Ter) rs1057516728
NM_000057.4(BLM):c.3855C>T (p.Tyr1285=) rs1057516728
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.3860_3863del (p.Glu1287fs) rs2151198382
NM_000057.4(BLM):c.3861A>G (p.Glu1287=) rs977539638
NM_000057.4(BLM):c.3862T>C (p.Trp1288Arg) rs1897350898
NM_000057.4(BLM):c.3863G>A (p.Trp1288Ter) rs2151198389
NM_000057.4(BLM):c.3864G>A (p.Trp1288Ter) rs2151198391
NM_000057.4(BLM):c.3866dup (p.Ser1290fs)
NM_000057.4(BLM):c.3869del (p.Ser1290fs) rs2151198402
NM_000057.4(BLM):c.3870G>A (p.Ser1290=) rs1250145765
NM_000057.4(BLM):c.3870G>T (p.Ser1290=)
NM_000057.4(BLM):c.3871C>A (p.Pro1291Thr) rs1234718913
NM_000057.4(BLM):c.3874+10C>A
NM_000057.4(BLM):c.3874+10C>T rs746130539
NM_000057.4(BLM):c.3874+11del
NM_000057.4(BLM):c.3874+13C>G
NM_000057.4(BLM):c.3874+13C>T rs1415763304
NM_000057.4(BLM):c.3874+15A>G
NM_000057.4(BLM):c.3874+16T>C
NM_000057.4(BLM):c.3874+16TG[2] rs2151198446
NM_000057.4(BLM):c.3874+17G>T rs773040544
NM_000057.4(BLM):c.3874+1G>A
NM_000057.4(BLM):c.3874+20T>A
NM_000057.4(BLM):c.3874+2T>C rs1555424890
NM_000057.4(BLM):c.3874+3T>C rs2151198427
NM_000057.4(BLM):c.3875-14T>C rs1897405940
NM_000057.4(BLM):c.3875-19C>A rs746113158
NM_000057.4(BLM):c.3875-1G>A rs2151199690
NM_000057.4(BLM):c.3875-20T>A
NM_000057.4(BLM):c.3875-2A>T rs150421256
NM_000057.4(BLM):c.3875-5T>C rs1596273395
NM_000057.4(BLM):c.3875-7T>C rs2151199681
NM_000057.4(BLM):c.3875-8A>C rs1897406255
NM_000057.4(BLM):c.3875C>A (p.Ala1292Asp) rs1567066745
NM_000057.4(BLM):c.3876T>C (p.Ala1292=) rs1596273405
NM_000057.4(BLM):c.387G>T (p.Lys129Asn) rs2151147257
NM_000057.4(BLM):c.387_389del (p.Lys130del) rs587778105
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.3882C>T (p.Asp1294=)
NM_000057.4(BLM):c.3883A>G (p.Ser1295Gly)
NM_000057.4(BLM):c.3885T>C (p.Ser1295=)
NM_000057.4(BLM):c.3887C>T (p.Ser1296Phe) rs2151199713
NM_000057.4(BLM):c.3888C>A (p.Ser1296=) rs2151199719
NM_000057.4(BLM):c.3890del (p.Pro1297fs) rs1555425062
NM_000057.4(BLM):c.3891del (p.Gly1298_Ile1299insTer)
NM_000057.4(BLM):c.3894G>A (p.Gly1298=)
NM_000057.4(BLM):c.3894G>C (p.Gly1298=) rs1596273453
NM_000057.4(BLM):c.3897A>C (p.Ile1299=)
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.3900C>T (p.Ser1300=) rs769564626
NM_000057.4(BLM):c.3901C>T (p.Leu1301=)
NM_000057.4(BLM):c.3901del (p.Leu1301fs) rs1555425063
NM_000057.4(BLM):c.3905C>T (p.Ser1302Phe) rs1897408433
NM_000057.4(BLM):c.3906C>A (p.Ser1302=) rs2151199747
NM_000057.4(BLM):c.3906C>T (p.Ser1302=)
NM_000057.4(BLM):c.3909C>A (p.Ser1303Arg) rs1897408551
NM_000057.4(BLM):c.3909C>T (p.Ser1303=) rs1897408551
NM_000057.4(BLM):c.390del (p.Lys130fs) rs2151147261
NM_000057.4(BLM):c.3912C>T (p.Ser1304=)
NM_000057.4(BLM):c.3917G>A (p.Gly1306Asp) rs2151199760
NM_000057.4(BLM):c.3917del (p.Gly1306fs) rs764086459
NM_000057.4(BLM):c.3918C>T (p.Gly1306=) rs1393792078
NM_000057.4(BLM):c.3921C>G (p.Pro1307=)
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.3936T>A (p.Ala1312=) rs1034211979
NM_000057.4(BLM):c.3936T>C (p.Ala1312=) rs1034211979
NM_000057.4(BLM):c.3936T>G (p.Ala1312=)
NM_000057.4(BLM):c.3937G>T (p.Glu1313Ter) rs1555425074
NM_000057.4(BLM):c.3938A>C (p.Glu1313Ala) rs754033839
NM_000057.4(BLM):c.3939G>A (p.Glu1313=) rs2151199812
NM_000057.4(BLM):c.393C>T (p.Ser131=) rs1596218349
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.3945C>G (p.Leu1315=)
NM_000057.4(BLM):c.3946G>A (p.Asp1316Asn) rs779179608
NM_000057.4(BLM):c.3946G>C (p.Asp1316His) rs779179608
NM_000057.4(BLM):c.3948C>A (p.Asp1316Glu) rs375896520
NM_000057.4(BLM):c.3948C>T (p.Asp1316=) 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.3956del (p.Ile1319fs) rs1555425080
NM_000057.4(BLM):c.3957A>T (p.Ile1319=) rs1555425082
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.3960C>G (p.Pro1320=)
NM_000057.4(BLM):c.3960dup (p.Val1321fs) rs1567066891
NM_000057.4(BLM):c.3961G>C (p.Val1321Leu) rs7167216
NM_000057.4(BLM):c.3961G>T (p.Val1321Leu)
NM_000057.4(BLM):c.3963A>G (p.Val1321=) rs1325601639
NM_000057.4(BLM):c.3965C>T (p.Ser1322Phe) rs1362006078
NM_000057.4(BLM):c.396G>A (p.Arg132=) rs2151147285
NM_000057.4(BLM):c.3975C>A (p.Tyr1325Ter)
NM_000057.4(BLM):c.3978T>C (p.Phe1326=) rs1265868495
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.397dup (p.Asp133fs) rs2151147279
NM_000057.4(BLM):c.3983G>A (p.Ser1328Asn)
NM_000057.4(BLM):c.398A>G (p.Asp133Gly) rs1895614433
NM_000057.4(BLM):c.3990C>G (p.Thr1330=) rs2151199889
NM_000057.4(BLM):c.3990C>T (p.Thr1330=) rs2151199889
NM_000057.4(BLM):c.3991A>T (p.Arg1331Ter)
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.399T>C (p.Asp133=)
NM_000057.4(BLM):c.4000_4004del (p.Arg1334fs) rs1057516261
NM_000057.4(BLM):c.4002G>A (p.Arg1334=)
NM_000057.4(BLM):c.4002_4003delinsAT (p.Lys1335Ter)
NM_000057.4(BLM):c.4005G>A (p.Lys1335=) rs1449845656
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.4013dup (p.Met1339fs)
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.4023C>A (p.Ala1341=) rs1596273681
NM_000057.4(BLM):c.4026C>T (p.Ser1342=) rs766689783
NM_000057.4(BLM):c.4027C>G (p.Gln1343Glu)
NM_000057.4(BLM):c.4027C>T (p.Gln1343Ter) rs2151199939
NM_000057.4(BLM):c.4028A>G (p.Gln1343Arg) rs2151199942
NM_000057.4(BLM):c.4029A>G (p.Gln1343=) rs1596273696
NM_000057.4(BLM):c.4037A>G (p.Lys1346Arg) rs1596273706
NM_000057.4(BLM):c.4038G>A (p.Lys1346=) rs2151199967
NM_000057.4(BLM):c.4039A>G (p.Arg1347Gly) rs1596273711
NM_000057.4(BLM):c.4039_4048del (p.Arg1347fs) rs1555425105
NM_000057.4(BLM):c.403G>A (p.Ala135Thr)
NM_000057.4(BLM):c.403G>C (p.Ala135Pro) rs373832397
NM_000057.4(BLM):c.4041G>A (p.Arg1347=)
NM_000057.4(BLM):c.4049C>G (p.Thr1350Ser)
NM_000057.4(BLM):c.4050T>C (p.Thr1350=)
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>A (p.Lys1356=) rs587779890
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.4074G>A (p.Lys1358=)
NM_000057.4(BLM):c.4076+10G>A rs376445417
NM_000057.4(BLM):c.4076+10G>C rs376445417
NM_000057.4(BLM):c.4076+15A>G rs1897418799
NM_000057.4(BLM):c.4076+17C>A rs2151200054
NM_000057.4(BLM):c.4076+17C>G
NM_000057.4(BLM):c.4076+19T>C
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.4076+9T>C rs1272366101
NM_000057.4(BLM):c.4077-11T>C
NM_000057.4(BLM):c.4077-13dup
NM_000057.4(BLM):c.4077-17T>C
NM_000057.4(BLM):c.4077-2del
NM_000057.4(BLM):c.4077-59_4077-57dup rs10685387
NM_000057.4(BLM):c.4077-6T>A
NM_000057.4(BLM):c.4077-8C>G
NM_000057.4(BLM):c.4077-8C>T rs2151202218
NM_000057.4(BLM):c.4077-9A>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.4080G>T (p.Gly1360=)
NM_000057.4(BLM):c.4081T>C (p.Ser1361Pro)
NM_000057.4(BLM):c.4085C>G (p.Ala1362Gly) rs2151202232
NM_000057.4(BLM):c.4089A>G (p.Thr1363=) rs2151202237
NM_000057.4(BLM):c.4089A>T (p.Thr1363=) rs2151202237
NM_000057.4(BLM):c.4090T>C (p.Cys1364Arg) rs1596276396
NM_000057.4(BLM):c.4091G>A (p.Cys1364Tyr)
NM_000057.4(BLM):c.4098G>A (p.Lys1366=)
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.4104T>G (p.Ser1368=) rs2151202259
NM_000057.4(BLM):c.4107C>T (p.Ser1369=)
NM_000057.4(BLM):c.4110A>G (p.Lys1370=) rs1555425406
NM_000057.4(BLM):c.4113G>T (p.Thr1371=) rs61754135
NM_000057.4(BLM):c.4116A>G (p.Lys1372=) rs753664070
NM_000057.4(BLM):c.4118C>A (p.Ser1373Tyr)
NM_000057.4(BLM):c.4119C>T (p.Ser1373=) rs1210181566
NM_000057.4(BLM):c.411G>A (p.Lys137=)
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.4122C>T (p.Ser1374=) rs145277875
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.4125C>T (p.Ser1375=)
NM_000057.4(BLM):c.4131T>C (p.Ile1377=)
NM_000057.4(BLM):c.4132G>T (p.Gly1378Ter) rs1555425417
NM_000057.4(BLM):c.4134A>T (p.Gly1378=) rs2151202294
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.4140T>C (p.Ser1380=) rs747834576
NM_000057.4(BLM):c.4142C>T (p.Ser1381Leu) rs1277229461
NM_000057.4(BLM):c.4146C>T (p.Ala1382=)
NM_000057.4(BLM):c.4148C>G (p.Ser1383Ter) rs1567068960
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.4154C>T (p.Thr1385Ile) rs1596276510
NM_000057.4(BLM):c.4155T>C (p.Thr1385=)
NM_000057.4(BLM):c.4158T>A (p.Ser1386=) rs746522338
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.4164G>A (p.Ala1388=) rs1429829646
NM_000057.4(BLM):c.4164G>C (p.Ala1388=)
NM_000057.4(BLM):c.4164G>T (p.Ala1388=) rs1429829646
NM_000057.4(BLM):c.4167A>C (p.Thr1389=) rs2151202360
NM_000057.4(BLM):c.416T>C (p.Leu139Ser) rs1596218397
NM_000057.4(BLM):c.4170A>G (p.Ser1390=)
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.4176C>T (p.Ala1392=)
NM_000057.4(BLM):c.4177A>C (p.Asn1393His)
NM_000057.4(BLM):c.4178A>G (p.Asn1393Ser) rs1897529855
NM_000057.4(BLM):c.4179T>C (p.Asn1393=) rs1596276561
NM_000057.4(BLM):c.4181G>A (p.Ser1394Asn) rs2151202380
NM_000057.4(BLM):c.418G>T (p.Glu140Ter)
NM_000057.4(BLM):c.4191G>A (p.Gly1397=) rs1596276580
NM_000057.4(BLM):c.4193T>C (p.Ile1398Thr) rs2151202391
NM_000057.4(BLM):c.4196T>C (p.Met1399Thr) rs1567069030
NM_000057.4(BLM):c.4200T>C (p.Ala1400=) rs1596276585
NM_000057.4(BLM):c.4201C>G (p.Pro1401Ala)
NM_000057.4(BLM):c.4209G>A (p.Lys1403=) rs1254277623
NM_000057.4(BLM):c.420A>G (p.Glu140=) rs1895615618
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.4215A>T (p.Ile1405=) rs1596276635
NM_000057.4(BLM):c.4216_4217del (p.Ile1405_Asn1406insTer) rs1567069065
NM_000057.4(BLM):c.4218T>C (p.Asn1406=) rs2151202425
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.4233G>A (p.Lys1411=) rs2151202450
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.4242T>C (p.Tyr1414=) rs2151202466
NM_000057.4(BLM):c.4248C>G (p.Phe1416Leu) rs1567069125
NM_000057.4(BLM):c.4248C>T (p.Phe1416=) rs1567069125
NM_000057.4(BLM):c.4251A>C (p.Ser1417=) rs886051553
NM_000057.4(BLM):c.4251A>G (p.Ser1417=) rs886051553
NM_000057.4(BLM):c.4251A>T (p.Ser1417=)
NM_000057.4(BLM):c.4252T>A (p.Ter1418Lys) rs1555425441
NM_000057.4(BLM):c.426T>C (p.Ser142=) rs2151147337
NM_000057.4(BLM):c.428C>A (p.Ser143Tyr) rs1488217859
NM_000057.4(BLM):c.42A>G (p.Glu14=) rs2151145021
NM_000057.4(BLM):c.430T>A (p.Ser144Thr)
NM_000057.4(BLM):c.431C>T (p.Ser144Leu) rs1596218439
NM_000057.4(BLM):c.432A>G (p.Ser144=)
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.435A>G (p.Pro145=)
NM_000057.4(BLM):c.436G>C (p.Asp146His) rs1895616204
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.440_443del (p.Asp146_Ser147insTer) rs1895617043
NM_000057.4(BLM):c.443dup (p.Leu148fs) rs1057516297
NM_000057.4(BLM):c.444A>G (p.Leu148=)
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.455A>G (p.Asn152Ser) rs749633106
NM_000057.4(BLM):c.456T>C (p.Asn152=) rs1316621251
NM_000057.4(BLM):c.459T>C (p.Asp153=) rs779259379
NM_000057.4(BLM):c.45T>A (p.Arg15=) rs1458732220
NM_000057.4(BLM):c.460T>C (p.Trp154Arg) rs1226287991
NM_000057.4(BLM):c.461G>A (p.Trp154Ter)
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.468T>C (p.Asp156=)
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.477C>T (p.Asp159=) rs1276097571
NM_000057.4(BLM):c.479T>C (p.Phe160Ser)
NM_000057.4(BLM):c.479_480del (p.Asp159_Phe160insTer) rs1555418352
NM_000057.4(BLM):c.480T>C (p.Phe160=) rs1251281091
NM_000057.4(BLM):c.483T>C (p.Asp161=) rs2151147439
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.486T>C (p.Thr162=) rs1596218608
NM_000057.4(BLM):c.487del (p.Ser163fs)
NM_000057.4(BLM):c.489T>A (p.Ser163=) rs781044650
NM_000057.4(BLM):c.489T>C (p.Ser163=) rs781044650
NM_000057.4(BLM):c.489_497dup (p.Glu164_Ser166dup) rs1555418362
NM_000057.4(BLM):c.48C>T (p.His16=) rs757172775
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>G (p.Ser166Ter) rs896357448
NM_000057.4(BLM):c.497C>T (p.Ser166Leu) rs896357448
NM_000057.4(BLM):c.498A>G (p.Ser166=)
NM_000057.4(BLM):c.4G>T (p.Ala2Ser) rs199769364
NM_000057.4(BLM):c.501A>G (p.Lys167=) rs1895621474
NM_000057.4(BLM):c.504A>T (p.Ser168=) rs1596218655
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.510T>C (p.Val170=)
NM_000057.4(BLM):c.510T>G (p.Val170=)
NM_000057.4(BLM):c.511A>G (p.Thr171Ala) rs1895622104
NM_000057.4(BLM):c.511dup (p.Thr171fs)
NM_000057.4(BLM):c.512C>T (p.Thr171Ile)
NM_000057.4(BLM):c.513A>G (p.Thr171=)
NM_000057.4(BLM):c.513A>T (p.Thr171=) rs2151147499
NM_000057.4(BLM):c.514C>G (p.Pro172Ala) rs1163233988
NM_000057.4(BLM):c.514C>T (p.Pro172Ser)
NM_000057.4(BLM):c.516del (p.Gln174fs)
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.522_523del (p.His176fs)
NM_000057.4(BLM):c.524G>A (p.Ser175Asn) rs2151147521
NM_000057.4(BLM):c.527A>C (p.His176Pro)
NM_000057.4(BLM):c.531T>C (p.Phe177=)
NM_000057.4(BLM):c.532G>A (p.Val178Ile) rs1191794374
NM_000057.4(BLM):c.53C>T (p.Ala18Val)
NM_000057.4(BLM):c.540A>C (p.Val180=) rs763776756
NM_000057.4(BLM):c.543C>A (p.Ser181Arg) rs761288442
NM_000057.4(BLM):c.543C>T (p.Ser181=) rs761288442
NM_000057.4(BLM):c.543del (p.Ser181fs) rs1555418380
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.555A>G (p.Lys185=) rs766947105
NM_000057.4(BLM):c.556T>C (p.Ser186Pro) rs1253019128
NM_000057.4(BLM):c.557C>A (p.Ser186Ter)
NM_000057.4(BLM):c.557_559del (p.Ser186_Lys187delinsTer) rs367543035
NM_000057.4(BLM):c.558A>G (p.Ser186=) rs982183816
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.561A>G (p.Lys187=) rs2151147608
NM_000057.4(BLM):c.563A>G (p.Lys188Arg) rs907949967
NM_000057.4(BLM):c.564G>A (p.Lys188=) rs1596218841
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.566del (p.Gly189fs) rs2151147614
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>A (p.Lys190=) rs2151147630
NM_000057.4(BLM):c.570G>T (p.Lys190Asn) rs2151147630
NM_000057.4(BLM):c.572_573del (p.Arg191fs) rs2151147628
NM_000057.4(BLM):c.573A>G (p.Arg191=)
NM_000057.4(BLM):c.574A>T (p.Asn192Tyr) rs2151147636
NM_000057.4(BLM):c.578T>G (p.Phe193Cys)
NM_000057.4(BLM):c.579T>C (p.Phe193=)
NM_000057.4(BLM):c.57A>T (p.Arg19Ser) rs1555418008
NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer) rs367543026
NM_000057.4(BLM):c.582T>A (p.Phe194Leu) rs1895626638
NM_000057.4(BLM):c.582T>C (p.Phe194=) rs1895626638
NM_000057.4(BLM):c.582_595del (p.Phe194fs)
NM_000057.4(BLM):c.582del (p.Phe194fs) rs367543026
NM_000057.4(BLM):c.583A>T (p.Lys195Ter) rs2151147654
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.588A>G (p.Ala196=)
NM_000057.4(BLM):c.589C>T (p.Gln197Ter) rs2151147666
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.600A>C (p.Thr200=) rs1427442721
NM_000057.4(BLM):c.600A>G (p.Thr200=)
NM_000057.4(BLM):c.601A>G (p.Thr201Ala) rs1895627520
NM_000057.4(BLM):c.604A>C (p.Asn202His)
NM_000057.4(BLM):c.604_607del (p.Asn202fs) rs774777021
NM_000057.4(BLM):c.605A>T (p.Asn202Ile) rs1596218921
NM_000057.4(BLM):c.608C>G (p.Thr203Arg)
NM_000057.4(BLM):c.608_609del (p.Thr203fs) rs1170049553
NM_000057.4(BLM):c.60_61delinsTG (p.Leu21Val)
NM_000057.4(BLM):c.612A>G (p.Val204=) rs2151147738
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.619del (p.Asp207fs) rs1596218981
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.623del (p.Leu208fs) rs2151147765
NM_000057.4(BLM):c.623dup (p.Leu208fs)
NM_000057.4(BLM):c.624G>A (p.Leu208=)
NM_000057.4(BLM):c.624G>T (p.Leu208Phe)
NM_000057.4(BLM):c.627T>C (p.Pro209=)
NM_000057.4(BLM):c.633C>A (p.Pro211=)
NM_000057.4(BLM):c.633C>T (p.Pro211=) rs2151147807
NM_000057.4(BLM):c.633CTC[1] (p.Ser213del) rs760096957
NM_000057.4(BLM):c.636C>G (p.Ser212=)
NM_000057.4(BLM):c.637T>C (p.Ser213Pro)
NM_000057.4(BLM):c.638_639del (p.Ser212_Ser213insTer)
NM_000057.4(BLM):c.63TAA[2] (p.Asn23del)
NM_000057.4(BLM):c.645C>G (p.Ser215Arg) rs56218710
NM_000057.4(BLM):c.646G>T (p.Glu216Ter)
NM_000057.4(BLM):c.648G>A (p.Glu216=) rs1208450024
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.651A>G (p.Gln217=)
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.662_665del (p.Thr221fs) rs1057517229
NM_000057.4(BLM):c.666G>A (p.Glu222=) rs1419771771
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>A (p.Gln224=) rs1596219135
NM_000057.4(BLM):c.672G>C (p.Gln224His) rs1596219135
NM_000057.4(BLM):c.675G>A (p.Lys225=) rs2151147912
NM_000057.4(BLM):c.676G>T (p.Asp226Tyr) rs2151147916
NM_000057.4(BLM):c.678T>C (p.Asp226=)
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.689G>A (p.Trp230Ter) rs2151147939
NM_000057.4(BLM):c.690G>T (p.Trp230Cys) rs1895633501
NM_000057.4(BLM):c.691T>C (p.Leu231=)
NM_000057.4(BLM):c.695G>A (p.Ser232Asn)
NM_000057.4(BLM):c.699C>T (p.Ser233=) rs200125311
NM_000057.4(BLM):c.700_710del (p.Asp234fs) rs2151147969
NM_000057.4(BLM):c.700_713del (p.Asp234fs) rs1567035745
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.709del (p.Cys237fs) rs1217879599
NM_000057.4(BLM):c.713T>C (p.Ile238Thr) rs1895635327
NM_000057.4(BLM):c.714C>T (p.Ile238=)
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.726C>A (p.Pro242=) rs2151148064
NM_000057.4(BLM):c.726C>T (p.Pro242=) rs2151148064
NM_000057.4(BLM):c.728T>C (p.Ile243Thr) rs200000438
NM_000057.4(BLM):c.729del (p.Ile243fs)
NM_000057.4(BLM):c.731C>T (p.Ala244Val)
NM_000057.4(BLM):c.732T>C (p.Ala244=) rs2151148080
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.738G>A (p.Val246=) rs2151148091
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.746del (p.Asn249fs)
NM_000057.4(BLM):c.74T>C (p.Leu25Ser) rs1895534883
NM_000057.4(BLM):c.74T>G (p.Leu25Ter) 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.756T>C (p.Ala252=) rs1895638603
NM_000057.4(BLM):c.757del (p.Gln253fs) rs2151148137
NM_000057.4(BLM):c.75A>G (p.Leu25=) rs1276887266
NM_000057.4(BLM):c.75_78del (p.Leu25fs)
NM_000057.4(BLM):c.760G>C (p.Glu254Gln) rs181892828
NM_000057.4(BLM):c.760G>T (p.Glu254Ter) rs181892828
NM_000057.4(BLM):c.762A>G (p.Glu254=)
NM_000057.4(BLM):c.764G>C (p.Ser255Thr)
NM_000057.4(BLM):c.768C>A (p.Asp256Glu)
NM_000057.4(BLM):c.768C>T (p.Asp256=) rs765788538
NM_000057.4(BLM):c.772C>A (p.Leu258Met) rs1895639952
NM_000057.4(BLM):c.772_773del (p.Leu258fs) rs367543013
NM_000057.4(BLM):c.778A>T (p.Thr260Ser)
NM_000057.4(BLM):c.779C>A (p.Thr260Asn) rs2151148184
NM_000057.4(BLM):c.77_87del (p.Ser26fs)
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.789A>G (p.Glu263=) rs1596219365
NM_000057.4(BLM):c.789dup (p.Asp264fs) rs2151148207
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.795A>G (p.Glu265=) rs2151148221
NM_000057.4(BLM):c.796A>G (p.Arg266Gly) rs1895641246
NM_000057.4(BLM):c.799+12T>C
NM_000057.4(BLM):c.799+14T>A
NM_000057.4(BLM):c.799+15A>G rs2151148258
NM_000057.4(BLM):c.799+17C>T
NM_000057.4(BLM):c.799+1G>A
NM_000057.4(BLM):c.799+1G>T rs1895641581
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.799+7A>G rs1596219393
NM_000057.4(BLM):c.799+7_799+10del rs1218966283
NM_000057.4(BLM):c.79C>T (p.Leu27Phe)
NM_000057.4(BLM):c.7G>A (p.Ala3Thr) rs1895531822
NM_000057.4(BLM):c.800-11T>C
NM_000057.4(BLM):c.800-120T>C rs7183841
NM_000057.4(BLM):c.800-13T>A
NM_000057.4(BLM):c.800-13T>G
NM_000057.4(BLM):c.800-14C>T
NM_000057.4(BLM):c.800-15A>T
NM_000057.4(BLM):c.800-18_800-17delinsAA rs2151149459
NM_000057.4(BLM):c.800-20T>C
NM_000057.4(BLM):c.800-20_800-18del rs2151149455
NM_000057.4(BLM):c.800-2A>G rs1895690125
NM_000057.4(BLM):c.800-4G>A rs1338362749
NM_000057.4(BLM):c.800-5T>C rs1596220949
NM_000057.4(BLM):c.800-6C>A rs2151149470
NM_000057.4(BLM):c.800-9T>C
NM_000057.4(BLM):c.804T>C (p.Asn268=)
NM_000057.4(BLM):c.804_805del (p.Asn268fs)
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.810A>G (p.Glu270=) rs1596220978
NM_000057.4(BLM):c.811A>G (p.Lys271Glu) rs1895690937
NM_000057.4(BLM):c.811_815del (p.Lys271fs)
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.814A>T (p.Lys272Ter)
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.822T>C (p.Asn274=) rs1596221010
NM_000057.4(BLM):c.823T>C (p.Leu275=)
NM_000057.4(BLM):c.826del (p.Glu276fs) rs2151149553
NM_000057.4(BLM):c.827A>G (p.Glu276Gly) rs2151149556
NM_000057.4(BLM):c.829G>T (p.Glu277Ter) rs1596221020
NM_000057.4(BLM):c.833C>T (p.Ala278Val) rs1895692100
NM_000057.4(BLM):c.835G>T (p.Glu279Ter) rs1567036566
NM_000057.4(BLM):c.837A>G (p.Glu279=) rs756158096
NM_000057.4(BLM):c.839_888del (p.Glu279_Leu280insTer) rs1567036579
NM_000057.4(BLM):c.83C>G (p.Ser28Ter) rs2151145090
NM_000057.4(BLM):c.83del (p.Leu27_Ser28insTer) rs2151145092
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.842del (p.His281fs) rs1895692863
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.84A>G (p.Ser28=) rs1166385360
NM_000057.4(BLM):c.852G>A (p.Glu284=) rs2151149592
NM_000057.4(BLM):c.853A>G (p.Lys285Glu)
NM_000057.4(BLM):c.855A>G (p.Lys285=)
NM_000057.4(BLM):c.855del (p.Val286fs) rs2151149598
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.861A>G (p.Pro287=) rs1555418666
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.864del (p.Pro287_Cys288insTer)
NM_000057.4(BLM):c.865A>G (p.Ile289Val) rs1895693953
NM_000057.4(BLM):c.86A>G (p.Lys29Arg) rs1895535585
NM_000057.4(BLM):c.873T>C (p.Phe291=) rs1006578287
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.876T>C (p.Asp292=) rs1336155306
NM_000057.4(BLM):c.87A>G (p.Lys29=) rs1895535691
NM_000057.4(BLM):c.881A>G (p.Asp294Gly) rs1895694767
NM_000057.4(BLM):c.882T>C (p.Asp294=) rs201168622
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.891T>C (p.Asp297=) rs2151149684
NM_000057.4(BLM):c.895G>A (p.Asp299Asn)
NM_000057.4(BLM):c.899T>C (p.Phe300Ser)
NM_000057.4(BLM):c.8_9dup (p.Val4fs)
NM_000057.4(BLM):c.903T>A (p.Val301=) rs2151149711
NM_000057.4(BLM):c.903T>C (p.Val301=) rs2151149711
NM_000057.4(BLM):c.905C>T (p.Pro302Leu) rs1895696337
NM_000057.4(BLM):c.907C>T (p.Pro303Ser)
NM_000057.4(BLM):c.909T>G (p.Pro303=)
NM_000057.4(BLM):c.90A>G (p.Pro30=) rs2151145112
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.919G>T (p.Glu307Ter) rs766386787
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.930T>C (p.Ser310=) rs1471248156
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.93A>G (p.Lys31=) rs2151145115
NM_000057.4(BLM):c.941C>T (p.Ser314Phe)
NM_000057.4(BLM):c.942C>G (p.Ser314=)
NM_000057.4(BLM):c.942del (p.Ser315fs) rs1555418701
NM_000057.4(BLM):c.943T>G (p.Ser315Ala)
NM_000057.4(BLM):c.944C>T (p.Ser315Phe) rs1895698325
NM_000057.4(BLM):c.945T>C (p.Ser315=) rs2151149787
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+10C>A rs2151149826
NM_000057.4(BLM):c.959+12A>G
NM_000057.4(BLM):c.959+19T>C
NM_000057.4(BLM):c.959+1_959+9del rs765061205
NM_000057.4(BLM):c.959+20A>G
NM_000057.4(BLM):c.959+20A>T
NM_000057.4(BLM):c.959+2T>C
NM_000057.4(BLM):c.959+2_959+3insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC
NM_000057.4(BLM):c.959+9G>C
NM_000057.4(BLM):c.959G>C (p.Ser320Thr) rs757112333
NM_000057.4(BLM):c.959_959+16del
NM_000057.4(BLM):c.960-10T>G
NM_000057.4(BLM):c.960-16T>A
NM_000057.4(BLM):c.960-17A>T rs1567037887
NM_000057.4(BLM):c.960-1G>A rs1596223715
NM_000057.4(BLM):c.960-1G>T rs1596223715
NM_000057.4(BLM):c.960-2A>C rs1286600850
NM_000057.4(BLM):c.960-3C>T rs878962653
NM_000057.4(BLM):c.960-4G>A rs1555418976
NM_000057.4(BLM):c.960-7T>C rs2151152020
NM_000057.4(BLM):c.960-9T>A
NM_000057.4(BLM):c.960-9del
NM_000057.4(BLM):c.960-9dup rs758366991
NM_000057.4(BLM):c.962C>T (p.Thr321Met)
NM_000057.4(BLM):c.966A>G (p.Leu322=) rs1361231725
NM_000057.4(BLM):c.967A>C (p.Lys323Gln) rs2151152050
NM_000057.4(BLM):c.96T>C (p.Phe32=) rs2151145118
NM_000057.4(BLM):c.972C>A (p.Asp324Glu)
NM_000057.4(BLM):c.972C>T (p.Asp324=) rs769094708
NM_000057.4(BLM):c.975T>C (p.Leu325=)
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.97dup (p.Ser33fs)
NM_000057.4(BLM):c.98+11del rs2151145130
NM_000057.4(BLM):c.98+15T>C rs2151145139
NM_000057.4(BLM):c.98+16G>A
NM_000057.4(BLM):c.98+1G>A rs750293380
NM_000057.4(BLM):c.98+1G>T rs750293380
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.98+7G>A
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.981C>G (p.Thr327=) rs1140119
NM_000057.4(BLM):c.981C>T (p.Thr327=) rs1140119
NM_000057.4(BLM):c.982T>G (p.Ser328Ala) rs2151152087
NM_000057.4(BLM):c.982del (p.Ser328fs)
NM_000057.4(BLM):c.983C>T (p.Ser328Phe) rs2151152099
NM_000057.4(BLM):c.984del (p.Asp329fs) rs2151152104
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.98_98+1del
NM_000057.4(BLM):c.99-15T>C rs2151146672
NM_000057.4(BLM):c.99-1G>C rs897262346
NM_000057.4(BLM):c.99-1G>T
NM_000057.4(BLM):c.99-20G>A
NM_000057.4(BLM):c.99-20G>C
NM_000057.4(BLM):c.99-8_112del rs2151146678
NM_000057.4(BLM):c.99-9A>T rs1419730289
NM_000057.4(BLM):c.99-9_99-7del rs1229333064
NM_000057.4(BLM):c.990A>G (p.Arg330=)
NM_000057.4(BLM):c.991A>G (p.Lys331Glu) rs1596223773
NM_000057.4(BLM):c.991_995del (p.Lys331fs) rs786204524
NM_000057.4(BLM):c.993A>G (p.Lys331=) rs2151152140
NM_000057.4(BLM):c.993del (p.Glu332fs) rs2151152131
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.996G>A (p.Glu332=) rs2151152149
NM_000057.4(BLM):c.997G>T (p.Asp333Tyr) rs1567037944
NM_000057.4(BLM):c.9T>C (p.Ala3=) rs1596215598
NM_000057.4(BLM):c.[1544dup;2468del]
NM_000057.4(BLM):c.[2265_2268dup;2441T>A]
NM_000057.4(BLM):c.[289C>T;649C>T]

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