ClinVar Miner

List of variants in gene BLM studied for Hereditary cancer-predisposing syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2299
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HGVS dbSNP gnomAD frequency
NM_000057.4(BLM):c.3102G>A (p.Thr1034=) rs2227933 0.17570
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.2603C>T (p.Pro868Leu) rs2227935 0.06742
NM_000057.4(BLM):c.4077-778A>C rs28363369 0.01127
NM_000057.4(BLM):c.959+669A>T rs28384996 0.01022
NM_000057.4(BLM):c.419A>G (p.Glu140Gly) rs35886055 0.00958
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.1928G>A (p.Arg643His) rs12720097 0.00278
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141 0.00245
NM_000057.4(BLM):c.2824-473C>T rs28385070 0.00237
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.2263A>G (p.Lys755Glu) rs142551229 0.00140
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886 0.00115
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00102
NM_000057.4(BLM):c.3879A>G (p.Glu1293=) rs28377085 0.00098
NM_000057.4(BLM):c.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.645C>T (p.Ser215=) rs56218710 0.00045
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.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.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.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.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.1087G>A (p.Ala363Thr) rs200364297 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.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.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.2237C>T (p.Ala746Val) rs769498533 0.00006
NM_000057.4(BLM):c.2315C>T (p.Ala772Val) rs765478171 0.00006
NM_000057.4(BLM):c.2475G>A (p.Pro825=) rs147587050 0.00006
NM_000057.4(BLM):c.2619G>C (p.Lys873Asn) rs146723808 0.00006
NM_000057.4(BLM):c.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.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.1415C>A (p.Thr472Asn) rs368967327 0.00004
NM_000057.4(BLM):c.1630G>A (p.Glu544Lys) rs752494229 0.00004
NM_000057.4(BLM):c.201T>C (p.Val67=) rs563887813 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.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.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.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.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.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.2350T>A (p.Tyr784Asn) rs779746222 0.00002
NM_000057.4(BLM):c.2434A>C (p.Lys812Gln) rs763827222 0.00002
NM_000057.4(BLM):c.2552A>G (p.Gln851Arg) rs1454270314 0.00002
NM_000057.4(BLM):c.2633G>C (p.Cys878Ser) rs966788239 0.00002
NM_000057.4(BLM):c.2655C>T (p.His885=) rs1404506326 0.00002
NM_000057.4(BLM):c.2795A>G (p.Gln932Arg) rs1427273201 0.00002
NM_000057.4(BLM):c.2871C>T (p.Asp957=) rs878853554 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.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.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.1054G>T (p.Glu352Ter) rs369583279 0.00001
NM_000057.4(BLM):c.106A>G (p.Thr36Ala) rs1714362154 0.00001
NM_000057.4(BLM):c.1091G>A (p.Arg364Lys) rs1374291628 0.00001
NM_000057.4(BLM):c.1117A>G (p.Ile373Val) rs766212032 0.00001
NM_000057.4(BLM):c.1154C>A (p.Thr385Asn) rs202009716 0.00001
NM_000057.4(BLM):c.1156A>G (p.Ile386Val) rs757636363 0.00001
NM_000057.4(BLM):c.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+5C>G rs1596229075 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.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.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.1551C>T (p.Ser517=) rs775878725 0.00001
NM_000057.4(BLM):c.1566A>G (p.Gly522=) rs1895965477 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.1708A>T (p.Ile570Leu) rs775758928 0.00001
NM_000057.4(BLM):c.1724C>T (p.Ala575Val) rs774551420 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.1771C>T (p.Arg591Trp) rs777647725 0.00001
NM_000057.4(BLM):c.1772G>A (p.Arg591Gln) rs28385012 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.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.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.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.2193T>G (p.Asp731Glu) rs756354696 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.2308-5C>T rs957805754 0.00001
NM_000057.4(BLM):c.2310C>T (p.Ile770=) rs759705000 0.00001
NM_000057.4(BLM):c.2325A>G (p.Arg775=) rs1182162934 0.00001
NM_000057.4(BLM):c.2340G>A (p.Leu780=) rs756031754 0.00001
NM_000057.4(BLM):c.2347C>T (p.Leu783Phe) rs1430052148 0.00001
NM_000057.4(BLM):c.2351A>G (p.Tyr784Cys) rs753635754 0.00001
NM_000057.4(BLM):c.2357G>A (p.Arg786Lys) rs369065966 0.00001
NM_000057.4(BLM):c.2360A>G (p.Lys787Arg) rs778695045 0.00001
NM_000057.4(BLM):c.2367G>C (p.Leu789Phe) rs1060500651 0.00001
NM_000057.4(BLM):c.2372G>A (p.Arg791His) rs1322472868 0.00001
NM_000057.4(BLM):c.2381T>C (p.Ile794Thr) rs373819952 0.00001
NM_000057.4(BLM):c.2397T>C (p.Cys799=) rs771209978 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.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.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.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.2662T>C (p.Tyr888His) rs758696992 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+4A>G rs1168674610 0.00001
NM_000057.4(BLM):c.2824-21A>G rs780918325 0.00001
NM_000057.4(BLM):c.2824-2A>T rs745538883 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.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.3014T>C (p.Ile1005Thr) rs772671554 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.3104A>G (p.Glu1035Gly) rs1288025724 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+4A>G rs776621429 0.00001
NM_000057.4(BLM):c.3211G>T (p.Asp1071Tyr) rs794727180 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.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.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.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.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.3655C>G (p.Leu1219Val) rs960821931 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.3731T>G (p.Val1244Gly) rs771117920 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.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.3874G>A (p.Ala1292Thr) rs757641454 0.00001
NM_000057.4(BLM):c.3875-2A>G rs150421256 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.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.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.470T>C (p.Met157Thr) rs773103759 0.00001
NM_000057.4(BLM):c.472G>A (p.Asp158Asn) rs1210664602 0.00001
NM_000057.4(BLM):c.499A>G (p.Lys167Glu) rs775285496 0.00001
NM_000057.4(BLM):c.506T>G (p.Phe169Cys) rs1013299710 0.00001
NM_000057.4(BLM):c.555A>T (p.Lys185Asn) rs766947105 0.00001
NM_000057.4(BLM):c.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.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.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.98+6T>G rs886051550 0.00001
NM_000057.4(BLM):c.992A>C (p.Lys331Thr) rs1351404875 0.00001
NC_000015.10:g.90815105del
NM_000057.2(BLM):c.-4-4929_82del
NM_000057.2:c.741_742insALU
NM_000057.2:c.959+2_959+3insALU
NM_000057.4(BLM):c.-4G>A
NM_000057.4(BLM):c.-5G>A
NM_000057.4(BLM):c.1000G>T (p.Val334Phe)
NM_000057.4(BLM):c.1003C>G (p.Leu335Val) rs1265514490
NM_000057.4(BLM):c.1007G>A (p.Ser336Asn) rs2151152181
NM_000057.4(BLM):c.1008C>T (p.Ser336=) rs1490955099
NM_000057.4(BLM):c.1011A>G (p.Thr337=)
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.101G>A (p.Gly34Asp)
NM_000057.4(BLM):c.1023T>C (p.Leu341=)
NM_000057.4(BLM):c.1025T>C (p.Leu342Ser) rs1596223853
NM_000057.4(BLM):c.1025T>G (p.Leu342Trp)
NM_000057.4(BLM):c.1025dup (p.Leu342fs)
NM_000057.4(BLM):c.1027T>C (p.Ser343Pro)
NM_000057.4(BLM):c.1036G>A (p.Glu346Lys)
NM_000057.4(BLM):c.1040A>C (p.Lys347Thr)
NM_000057.4(BLM):c.1044G>T (p.Met348Ile) rs184657475
NM_000057.4(BLM):c.1049T>C (p.Met350Thr)
NM_000057.4(BLM):c.1050G>A (p.Met350Ile)
NM_000057.4(BLM):c.1052A>G (p.Gln351Arg)
NM_000057.4(BLM):c.1054G>A (p.Glu352Lys) rs369583279
NM_000057.4(BLM):c.1055A>G (p.Glu352Gly)
NM_000057.4(BLM):c.1057C>G (p.Leu353Val) rs1895778737
NM_000057.4(BLM):c.1058T>C (p.Leu353Pro)
NM_000057.4(BLM):c.1059G>A (p.Leu353=)
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.1067A>T (p.Glu356Val)
NM_000057.4(BLM):c.1071C>G (p.Thr357=) rs1596223942
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.1074C>T (p.Ser358=) rs372459059
NM_000057.4(BLM):c.1075A>C (p.Thr359Pro) rs1332024999
NM_000057.4(BLM):c.1076C>T (p.Thr359Ile)
NM_000057.4(BLM):c.1078G>A (p.Asp360Asn)
NM_000057.4(BLM):c.1083_1084del (p.Cys361_Asp362delinsTer) rs1057517030
NM_000057.4(BLM):c.1086C>G (p.Asp362Glu)
NM_000057.4(BLM):c.1087G>C (p.Ala363Pro)
NM_000057.4(BLM):c.1088-5T>C
NM_000057.4(BLM):c.1088C>T (p.Ala363Val) rs1567040460
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter) rs1567040469
NM_000057.4(BLM):c.1096A>C (p.Ile366Leu) rs552913880
NM_000057.4(BLM):c.1098A>G (p.Ile366Met)
NM_000057.4(BLM):c.1100G>T (p.Ser367Ile)
NM_000057.4(BLM):c.1103T>C (p.Leu368Ser)
NM_000057.4(BLM):c.1107G>A (p.Gln369=) rs1895931307
NM_000057.4(BLM):c.1108C>T (p.Gln370Ter) rs1895931425
NM_000057.4(BLM):c.1113G>A (p.Gln371=) rs760446922
NM_000057.4(BLM):c.1113G>C (p.Gln371His)
NM_000057.4(BLM):c.1115T>C (p.Leu372Pro)
NM_000057.4(BLM):c.1118T>A (p.Ile373Asn) rs1060500630
NM_000057.4(BLM):c.1122T>G (p.His374Gln)
NM_000057.4(BLM):c.1123G>C (p.Val375Leu) rs1596228852
NM_000057.4(BLM):c.1126A>C (p.Met376Leu) rs1895932695
NM_000057.4(BLM):c.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.1132C>T (p.His378Tyr)
NM_000057.4(BLM):c.1132_1134delinsTAT (p.His378Tyr) rs1555419713
NM_000057.4(BLM):c.1133A>G (p.His378Arg)
NM_000057.4(BLM):c.1137C>G (p.Ile379Met) rs1178783782
NM_000057.4(BLM):c.1139G>A (p.Cys380Tyr)
NM_000057.4(BLM):c.113A>C (p.Lys38Thr) rs2151146691
NM_000057.4(BLM):c.1150G>T (p.Asp384Tyr)
NM_000057.4(BLM):c.1153A>G (p.Thr385Ala) rs1895934308
NM_000057.4(BLM):c.1154C>G (p.Thr385Ser)
NM_000057.4(BLM):c.1154del (p.Thr385fs)
NM_000057.4(BLM):c.1157T>C (p.Ile386Thr)
NM_000057.4(BLM):c.1164T>A (p.Asp388Glu)
NM_000057.4(BLM):c.1164T>G (p.Asp388Glu)
NM_000057.4(BLM):c.1165G>C (p.Asp389His) rs746170218
NM_000057.4(BLM):c.1169A>C (p.Lys390Thr) rs1596228946
NM_000057.4(BLM):c.116A>T (p.Lys39Met)
NM_000057.4(BLM):c.1173G>A (p.Leu391=)
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.1178T>C (p.Leu393Pro)
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.1182G>T (p.Leu394Phe)
NM_000057.4(BLM):c.1184A>T (p.Asp395Val)
NM_000057.4(BLM):c.1190G>A (p.Gly397Glu) rs1596228978
NM_000057.4(BLM):c.1191G>A (p.Gly397=) rs780393464
NM_000057.4(BLM):c.1193A>C (p.Asn398Thr)
NM_000057.4(BLM):c.1195G>A (p.Glu399Lys) rs538728271
NM_000057.4(BLM):c.1198C>G (p.Leu400Val)
NM_000057.4(BLM):c.11T>A (p.Val4Asp) rs144706057
NM_000057.4(BLM):c.1201C>T (p.Leu401Phe) rs151150267
NM_000057.4(BLM):c.1204C>G (p.Gln402Glu)
NM_000057.4(BLM):c.1205A>G (p.Gln402Arg)
NM_000057.4(BLM):c.1205A>T (p.Gln402Leu)
NM_000057.4(BLM):c.1209G>C (p.Gln403His) rs1555419741
NM_000057.4(BLM):c.1214A>G (p.Asn405Ser) rs752223894
NM_000057.4(BLM):c.1214A>T (p.Asn405Ile)
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.1220+3A>G rs1429490877
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.1221A>C (p.Arg407Ser) rs900060314
NM_000057.4(BLM):c.1222A>G (p.Arg408Gly)
NM_000057.4(BLM):c.1224G>A (p.Arg408=)
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.1230T>A (p.Leu410=)
NM_000057.4(BLM):c.1230_1231delinsAA (p.Leu411Ile)
NM_000057.4(BLM):c.1231C>A (p.Leu411Ile)
NM_000057.4(BLM):c.1233A>G (p.Leu411=)
NM_000057.4(BLM):c.123A>C (p.Thr41=)
NM_000057.4(BLM):c.123A>G (p.Thr41=)
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.1255A>T (p.Ser419Cys)
NM_000057.4(BLM):c.1255dup (p.Ser419fs)
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.1261G>T (p.Ala421Ser) rs587779879
NM_000057.4(BLM):c.1267CTT[1] (p.Leu424del) rs777886082
NM_000057.4(BLM):c.1269T>C (p.Leu423=)
NM_000057.4(BLM):c.1273G>A (p.Gly425Ser)
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.1280T>G (p.Leu427Trp)
NM_000057.4(BLM):c.1281G>A (p.Leu427=) rs2151157860
NM_000057.4(BLM):c.1281G>C (p.Leu427Phe)
NM_000057.4(BLM):c.1289A>T (p.Tyr430Phe)
NM_000057.4(BLM):c.128C>T (p.Ser43Leu)
NM_000057.4(BLM):c.1290C>A (p.Tyr430Ter)
NM_000057.4(BLM):c.1290C>T (p.Tyr430=) rs766861351
NM_000057.4(BLM):c.1291A>G (p.Arg431Gly)
NM_000057.4(BLM):c.1292G>A (p.Arg431Lys)
NM_000057.4(BLM):c.1293G>A (p.Arg431=)
NM_000057.4(BLM):c.1294C>T (p.Pro432Ser)
NM_000057.4(BLM):c.1295C>T (p.Pro432Leu)
NM_000057.4(BLM):c.1296T>A (p.Pro432=)
NM_000057.4(BLM):c.1296T>C (p.Pro432=) rs1555419811
NM_000057.4(BLM):c.1297G>C (p.Asp433His) rs1596229549
NM_000057.4(BLM):c.129A>C (p.Ser43=)
NM_000057.4(BLM):c.129_130insTAT (p.Ser43_Asp44insTyr) rs778786003
NM_000057.4(BLM):c.1302A>T (p.Ser434=)
NM_000057.4(BLM):c.1303C>G (p.Leu435Val)
NM_000057.4(BLM):c.1304T>C (p.Leu435Pro)
NM_000057.4(BLM):c.1305T>G (p.Leu435=) rs778967807
NM_000057.4(BLM):c.1306G>A (p.Asp436Asn)
NM_000057.4(BLM):c.130G>A (p.Asp44Asn)
NM_000057.4(BLM):c.1311C>T (p.Gly437=)
NM_000057.4(BLM):c.1315A>T (p.Met439Leu)
NM_000057.4(BLM):c.1317G>T (p.Met439Ile) rs1450277471
NM_000057.4(BLM):c.1319A>G (p.Glu440Gly) rs1567040910
NM_000057.4(BLM):c.131A>T (p.Asp44Val)
NM_000057.4(BLM):c.1326T>C (p.Asp442=) rs2151158008
NM_000057.4(BLM):c.1328C>A (p.Ser443Tyr)
NM_000057.4(BLM):c.1328C>G (p.Ser443Cys)
NM_000057.4(BLM):c.1328C>T (p.Ser443Phe)
NM_000057.4(BLM):c.1330T>C (p.Cys444Arg)
NM_000057.4(BLM):c.1331G>A (p.Cys444Tyr)
NM_000057.4(BLM):c.1332C>T (p.Cys444=) rs1895952071
NM_000057.4(BLM):c.1333C>T (p.Pro445Ser)
NM_000057.4(BLM):c.1334C>G (p.Pro445Arg)
NM_000057.4(BLM):c.1335T>C (p.Pro445=)
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>A (p.Gly447Arg)
NM_000057.4(BLM):c.1340G>A (p.Gly447Glu)
NM_000057.4(BLM):c.1341del (p.Asn448fs) rs2151158046
NM_000057.4(BLM):c.1342A>G (p.Asn448Asp)
NM_000057.4(BLM):c.1345T>G (p.Ser449Ala)
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.134A>G (p.Asn45Ser) rs1555418242
NM_000057.4(BLM):c.1352A>C (p.Lys451Thr)
NM_000057.4(BLM):c.1352A>G (p.Lys451Arg)
NM_000057.4(BLM):c.1358T>G (p.Leu453Ter) rs730881428
NM_000057.4(BLM):c.1360A>C (p.Asn454His)
NM_000057.4(BLM):c.1362T>C (p.Asn454=) rs1156488243
NM_000057.4(BLM):c.1364T>G (p.Phe455Cys)
NM_000057.4(BLM):c.1369C>G (p.His457Asp)
NM_000057.4(BLM):c.1369C>T (p.His457Tyr) rs1895954255
NM_000057.4(BLM):c.136A>G (p.Asn46Asp)
NM_000057.4(BLM):c.1371C>G (p.His457Gln)
NM_000057.4(BLM):c.1372C>T (p.Leu458Phe)
NM_000057.4(BLM):c.1375C>G (p.Pro459Ala)
NM_000057.4(BLM):c.1376C>A (p.Pro459His) rs1302320494
NM_000057.4(BLM):c.1376C>T (p.Pro459Leu)
NM_000057.4(BLM):c.1383T>C (p.Asn461=) rs2151158124
NM_000057.4(BLM):c.1385del (p.Ser462fs) rs730881429
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.1394C>T (p.Pro465Leu)
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.1404T>C (p.Cys468=) rs1236929438
NM_000057.4(BLM):c.1410_1413del (p.Thr471fs) rs2151158165
NM_000057.4(BLM):c.1414A>G (p.Thr472Ala)
NM_000057.4(BLM):c.1419C>G (p.Thr473=) rs200051680
NM_000057.4(BLM):c.141A>C (p.Val47=)
NM_000057.4(BLM):c.1420C>T (p.Leu474=) rs1596229827
NM_000057.4(BLM):c.1427A>G (p.Lys476Arg) rs2151158198
NM_000057.4(BLM):c.142T>A (p.Ser48Thr) rs1895601138
NM_000057.4(BLM):c.1430C>T (p.Thr477Ile) rs1567041041
NM_000057.4(BLM):c.1433G>A (p.Gly478Glu)
NM_000057.4(BLM):c.1436T>A (p.Phe479Tyr) rs1418071613
NM_000057.4(BLM):c.1437C>T (p.Phe479=)
NM_000057.4(BLM):c.1438T>C (p.Ser480Pro) rs1555419877
NM_000057.4(BLM):c.1440dup (p.Ala481fs) rs1596229894
NM_000057.4(BLM):c.1446C>T (p.Thr482=) rs2151158251
NM_000057.4(BLM):c.1448G>A (p.Arg483Lys)
NM_000057.4(BLM):c.1456C>G (p.Leu486Val)
NM_000057.4(BLM):c.145G>A (p.Val49Ile) rs558379347
NM_000057.4(BLM):c.1462G>A (p.Glu488Lys) rs1477193473
NM_000057.4(BLM):c.1469C>T (p.Pro490Leu)
NM_000057.4(BLM):c.1469_1470dup (p.Phe492fs)
NM_000057.4(BLM):c.1469del (p.Pro490fs)
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.1478A>G (p.Asn493Ser)
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs) rs746244182
NM_000057.4(BLM):c.1481C>A (p.Thr494Asn)
NM_000057.4(BLM):c.1481C>T (p.Thr494Ile) rs751600686
NM_000057.4(BLM):c.1485T>C (p.His495=) rs2151158313
NM_000057.4(BLM):c.1490A>C (p.Gln497Pro) rs368547042
NM_000057.4(BLM):c.1493A>G (p.Lys498Arg)
NM_000057.4(BLM):c.1494G>A (p.Lys498=)
NM_000057.4(BLM):c.1497C>A (p.Ser499=) rs540772424
NM_000057.4(BLM):c.1500T>C (p.Phe500=)
NM_000057.4(BLM):c.1500del (p.Phe500fs) rs1555419889
NM_000057.4(BLM):c.1501G>A (p.Val501Ile) rs1596230032
NM_000057.4(BLM):c.1502T>C (p.Val501Ala)
NM_000057.4(BLM):c.1505G>C (p.Ser502Thr) rs908599703
NM_000057.4(BLM):c.1506T>C (p.Ser502=)
NM_000057.4(BLM):c.1507A>G (p.Ser503Gly)
NM_000057.4(BLM):c.1508G>A (p.Ser503Asn) rs1352036324
NM_000057.4(BLM):c.1510A>C (p.Asn504His)
NM_000057.4(BLM):c.1511A>G (p.Asn504Ser)
NM_000057.4(BLM):c.1513T>G (p.Trp505Gly)
NM_000057.4(BLM):c.1515G>A (p.Trp505Ter)
NM_000057.4(BLM):c.1517C>T (p.Ala506Val)
NM_000057.4(BLM):c.1525C>A (p.Pro509Thr)
NM_000057.4(BLM):c.1527A>G (p.Pro509=)
NM_000057.4(BLM):c.1531C>G (p.Leu511Val)
NM_000057.4(BLM):c.1532T>G (p.Leu511Arg) rs1446287900
NM_000057.4(BLM):c.1537A>G (p.Lys513Glu)
NM_000057.4(BLM):c.153T>C (p.Asn51=)
NM_000057.4(BLM):c.1544del (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.1544dup (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.1545T>G (p.Asn515Lys)
NM_000057.4(BLM):c.1547A>C (p.Glu516Ala)
NM_000057.4(BLM):c.1549A>C (p.Ser517Arg)
NM_000057.4(BLM):c.1552T>C (p.Ser518Pro) rs1596230139
NM_000057.4(BLM):c.1553C>G (p.Ser518Cys)
NM_000057.4(BLM):c.1554T>G (p.Ser518=)
NM_000057.4(BLM):c.1556A>G (p.Tyr519Cys) rs1567041220
NM_000057.4(BLM):c.1557T>C (p.Tyr519=)
NM_000057.4(BLM):c.1559T>C (p.Phe520Ser) rs1410283592
NM_000057.4(BLM):c.1561C>T (p.Pro521Ser) rs1451973495
NM_000057.4(BLM):c.1562C>T (p.Pro521Leu)
NM_000057.4(BLM):c.1563A>C (p.Pro521=)
NM_000057.4(BLM):c.1564G>A (p.Gly522Arg) rs1895965135
NM_000057.4(BLM):c.1568A>G (p.Asn523Ser)
NM_000057.4(BLM):c.1569T>C (p.Asn523=)
NM_000057.4(BLM):c.1578A>C (p.Thr526=) rs1596230169
NM_000057.4(BLM):c.1579A>C (p.Ser527Arg)
NM_000057.4(BLM):c.157T>C (p.Ser53Pro)
NM_000057.4(BLM):c.157T>G (p.Ser53Ala)
NM_000057.4(BLM):c.1581C>A (p.Ser527Arg)
NM_000057.4(BLM):c.1582A>G (p.Thr528Ala)
NM_000057.4(BLM):c.1582_1583insTTG (p.Thr528delinsIleAla)
NM_000057.4(BLM):c.1583C>T (p.Thr528Ile) rs1596230185
NM_000057.4(BLM):c.1587T>A (p.Ala529=)
NM_000057.4(BLM):c.1589T>C (p.Val530Ala) rs2151158554
NM_000057.4(BLM):c.158C>T (p.Ser53Leu)
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>T (p.Asp532Tyr)
NM_000057.4(BLM):c.1598A>G (p.Gln533Arg)
NM_000057.4(BLM):c.1599G>A (p.Gln533=) rs2151158575
NM_000057.4(BLM):c.1606C>A (p.His536Asn)
NM_000057.4(BLM):c.160G>A (p.Val54Ile)
NM_000057.4(BLM):c.1610C>T (p.Thr537Ile)
NM_000057.4(BLM):c.1611T>C (p.Thr537=) rs1895967311
NM_000057.4(BLM):c.1613C>A (p.Ala538Asp)
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.1624del (p.Asp542fs) rs747498968
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.1633del (p.Arg545fs)
NM_000057.4(BLM):c.1634_1639del (p.Arg545_Glu546del) rs1555419934
NM_000057.4(BLM):c.1639A>G (p.Thr547Ala)
NM_000057.4(BLM):c.1641C>A (p.Thr547=)
NM_000057.4(BLM):c.1641C>G (p.Thr547=)
NM_000057.4(BLM):c.1644A>G (p.Gln548=)
NM_000057.4(BLM):c.1645C>A (p.Pro549Thr)
NM_000057.4(BLM):c.1647T>C (p.Pro549=)
NM_000057.4(BLM):c.1648T>C (p.Ser550Pro)
NM_000057.4(BLM):c.164C>A (p.Ala55Glu)
NM_000057.4(BLM):c.1650C>G (p.Ser550=)
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.1668T>C (p.Phe556=)
NM_000057.4(BLM):c.1672A>G (p.Ile558Val)
NM_000057.4(BLM):c.1673T>C (p.Ile558Thr) rs1469407831
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.1681T>A (p.Phe561Ile)
NM_000057.4(BLM):c.1681T>G (p.Phe561Val)
NM_000057.4(BLM):c.1681_1682delinsGA (p.Phe561Asp) rs1895970884
NM_000057.4(BLM):c.1682T>A (p.Phe561Tyr)
NM_000057.4(BLM):c.1683TGA[6] (p.Asp566dup) rs768095141
NM_000057.4(BLM):c.1686T>A (p.Asp562Glu) rs1895971165
NM_000057.4(BLM):c.1688A>T (p.Asp563Val) rs1288457938
NM_000057.4(BLM):c.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.1699T>C (p.Trp567Arg)
NM_000057.4(BLM):c.169A>G (p.Thr57Ala)
NM_000057.4(BLM):c.169A>T (p.Thr57Ser)
NM_000057.4(BLM):c.1700G>A (p.Trp567Ter)
NM_000057.4(BLM):c.1701G>A (p.Trp567Ter) rs1356090839
NM_000057.4(BLM):c.1705G>T (p.Asp569Tyr)
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>G (p.Ile570Val) rs775758928
NM_000057.4(BLM):c.1709T>C (p.Ile570Thr) rs1567041376
NM_000057.4(BLM):c.1711A>G (p.Met571Val)
NM_000057.4(BLM):c.1715A>G (p.His572Arg) rs763355238
NM_000057.4(BLM):c.1718A>T (p.Asn573Ile)
NM_000057.4(BLM):c.1719T>A (p.Asn573Lys) rs1895973169
NM_000057.4(BLM):c.171A>T (p.Thr57=)
NM_000057.4(BLM):c.1723G>A (p.Ala575Thr)
NM_000057.4(BLM):c.1725A>C (p.Ala575=)
NM_000057.4(BLM):c.1726G>A (p.Ala576Thr)
NM_000057.4(BLM):c.1726G>C (p.Ala576Pro)
NM_000057.4(BLM):c.1727C>T (p.Ala576Val)
NM_000057.4(BLM):c.1729A>C (p.Ser577Arg) rs761955701
NM_000057.4(BLM):c.1729A>G (p.Ser577Gly)
NM_000057.4(BLM):c.172C>A (p.Pro58Thr) rs1596217837
NM_000057.4(BLM):c.1731C>T (p.Ser577=)
NM_000057.4(BLM):c.1735T>A (p.Ser579Thr)
NM_000057.4(BLM):c.1742C>T (p.Thr581Ile)
NM_000057.4(BLM):c.1747G>T (p.Ala583Ser) rs1043484811
NM_000057.4(BLM):c.1749C>G (p.Ala583=) rs369660800
NM_000057.4(BLM):c.1755A>G (p.Gln585=)
NM_000057.4(BLM):c.1756C>A (p.Pro586Thr)
NM_000057.4(BLM):c.1761C>T (p.Ile587=)
NM_000057.4(BLM):c.1763A>C (p.Lys588Thr)
NM_000057.4(BLM):c.1763del (p.Lys588fs)
NM_000057.4(BLM):c.1764G>A (p.Lys588=) rs1596230518
NM_000057.4(BLM):c.1765G>A (p.Glu589Lys)
NM_000057.4(BLM):c.1767A>T (p.Glu589Asp)
NM_000057.4(BLM):c.1770T>C (p.Gly590=)
NM_000057.4(BLM):c.1771C>G (p.Arg591Gly)
NM_000057.4(BLM):c.1775C>T (p.Pro592Leu) rs2151158954
NM_000057.4(BLM):c.1777A>C (p.Ile593Leu)
NM_000057.4(BLM):c.1777A>G (p.Ile593Val)
NM_000057.4(BLM):c.177A>T (p.Val59=)
NM_000057.4(BLM):c.1783T>C (p.Ser595Pro)
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.1799T>C (p.Leu600Pro)
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.1808C>G (p.Ala603Gly) rs1567041486
NM_000057.4(BLM):c.1809C>G (p.Ala603=) rs1596230587
NM_000057.4(BLM):c.1817A>T (p.Asp606Val)
NM_000057.4(BLM):c.1818C>T (p.Asp606=) rs1343649830
NM_000057.4(BLM):c.1819T>C (p.Cys607Arg)
NM_000057.4(BLM):c.1820G>T (p.Cys607Phe)
NM_000057.4(BLM):c.1820_1823del (p.Cys607fs)
NM_000057.4(BLM):c.1827A>G (p.Pro609=) rs1035455107
NM_000057.4(BLM):c.1828G>A (p.Val610Met)
NM_000057.4(BLM):c.182G>T (p.Arg61Ile) rs1060500644
NM_000057.4(BLM):c.1832C>A (p.Ser611Ter)
NM_000057.4(BLM):c.1835C>A (p.Ser612Tyr)
NM_000057.4(BLM):c.1836T>C (p.Ser612=)
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.1845A>G (p.Gln615=)
NM_000057.4(BLM):c.1849A>G (p.Ile617Val)
NM_000057.4(BLM):c.1852A>C (p.Asn618His)
NM_000057.4(BLM):c.1856_1858del (p.Phe619del) rs1555419996
NM_000057.4(BLM):c.1857C>G (p.Phe619Leu)
NM_000057.4(BLM):c.1862A>T (p.Glu621Val)
NM_000057.4(BLM):c.1864T>G (p.Ser622Ala)
NM_000057.4(BLM):c.1865C>G (p.Ser622Ter)
NM_000057.4(BLM):c.1865C>T (p.Ser622Leu)
NM_000057.4(BLM):c.1867A>G (p.Ile623Val)
NM_000057.4(BLM):c.1868T>C (p.Ile623Thr) rs1567041556
NM_000057.4(BLM):c.1871A>G (p.Gln624Arg) rs2151159195
NM_000057.4(BLM):c.1872G>A (p.Gln624=)
NM_000057.4(BLM):c.1879A>G (p.Thr627Ala) rs1895981084
NM_000057.4(BLM):c.1883-4C>T
NM_000057.4(BLM):c.1884C>T (p.Asp628=)
NM_000057.4(BLM):c.1887G>A (p.Lys629=)
NM_000057.4(BLM):c.1888T>A (p.Ser630Thr) rs1567042153
NM_000057.4(BLM):c.1895A>C (p.Gln632Pro) rs1896025240
NM_000057.4(BLM):c.189A>G (p.Lys63=)
NM_000057.4(BLM):c.18A>G (p.Gln6=) rs372771577
NM_000057.4(BLM):c.1903G>A (p.Ala635Thr)
NM_000057.4(BLM):c.1907C>G (p.Ser636Cys) rs1596232081
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.190G>T (p.Asp64Tyr)
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>G (p.His641Arg)
NM_000057.4(BLM):c.1923_1925del (p.His641_Glu642delinsGln)
NM_000057.4(BLM):c.1925del (p.Glu642fs)
NM_000057.4(BLM):c.1927C>A (p.Arg643Ser) rs373090621
NM_000057.4(BLM):c.1929T>C (p.Arg643=)
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.1935A>C (p.Gln645His)
NM_000057.4(BLM):c.1935A>G (p.Gln645=)
NM_000057.4(BLM):c.1936A>C (p.Ser646Arg)
NM_000057.4(BLM):c.193G>C (p.Val65Leu)
NM_000057.4(BLM):c.1942A>T (p.Ser648Cys)
NM_000057.4(BLM):c.1943G>C (p.Ser648Thr)
NM_000057.4(BLM):c.194T>A (p.Val65Asp)
NM_000057.4(BLM):c.1953T>C (p.His651=) rs755517718
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.1965G>C (p.Met655Ile) rs369777747
NM_000057.4(BLM):c.1965G>T (p.Met655Ile)
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.198T>C (p.Asn66=) rs1410899563
NM_000057.4(BLM):c.1992C>G (p.Gly664=) rs886043359
NM_000057.4(BLM):c.1992C>T (p.Gly664=) rs886043359
NM_000057.4(BLM):c.1995G>A (p.Leu665=)
NM_000057.4(BLM):c.199G>A (p.Val67Ile) rs991350762
NM_000057.4(BLM):c.2001T>G (p.Asn667Lys)
NM_000057.4(BLM):c.2005A>T (p.Arg669Ter) rs1596232266
NM_000057.4(BLM):c.200T>A (p.Val67Asp) rs1555418261
NM_000057.4(BLM):c.2010T>C (p.Thr670=)
NM_000057.4(BLM):c.201T>G (p.Val67=)
NM_000057.4(BLM):c.2022G>A (p.Glu674=) rs1596232275
NM_000057.4(BLM):c.2024C>G (p.Ala675Gly)
NM_000057.4(BLM):c.2025G>C (p.Ala675=)
NM_000057.4(BLM):c.2025G>T (p.Ala675=)
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>G (p.Ala679=) rs1555420173
NM_000057.4(BLM):c.2039T>C (p.Leu680Pro)
NM_000057.4(BLM):c.2043T>C (p.Leu681=) rs2151160770
NM_000057.4(BLM):c.2046T>A (p.Gly682=)
NM_000057.4(BLM):c.2047G>A (p.Glu683Lys)
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.2050G>T (p.Asp684Tyr)
NM_000057.4(BLM):c.2054G>A (p.Cys685Tyr) rs1896032110
NM_000057.4(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000057.4(BLM):c.2061C>T (p.Ile687=)
NM_000057.4(BLM):c.2064G>A (p.Leu688=)
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.2074+5G>A rs587779880
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.208G>A (p.Asp70Asn) rs769957028
NM_000057.4(BLM):c.2092T>C (p.Cys698Arg)
NM_000057.4(BLM):c.2096A>G (p.Tyr699Cys)
NM_000057.4(BLM):c.2097C>T (p.Tyr699=)
NM_000057.4(BLM):c.20A>G (p.Asn7Ser)
NM_000057.4(BLM):c.2103C>A (p.Leu701=) rs1596234139
NM_000057.4(BLM):c.2105C>T (p.Pro702Leu)
NM_000057.4(BLM):c.210C>T (p.Asp70=)
NM_000057.4(BLM):c.2113G>A (p.Val705Ile)
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.2123G>A (p.Gly708Glu) rs763559820
NM_000057.4(BLM):c.2124G>A (p.Gly708=)
NM_000057.4(BLM):c.212T>G (p.Phe71Cys)
NM_000057.4(BLM):c.2130T>C (p.Thr710=)
NM_000057.4(BLM):c.2131G>A (p.Val711Ile) rs2151162449
NM_000057.4(BLM):c.213_214del (p.Ser72fs) rs960430492
NM_000057.4(BLM):c.2148G>A (p.Leu716=) rs2151162471
NM_000057.4(BLM):c.2155C>T (p.Leu719Phe) rs587779881
NM_000057.4(BLM):c.2158A>G (p.Ile720Val)
NM_000057.4(BLM):c.2159T>C (p.Ile720Thr)
NM_000057.4(BLM):c.2162T>A (p.Val721Glu)
NM_000057.4(BLM):c.2164del (p.Asp722fs)
NM_000057.4(BLM):c.2167C>G (p.Gln723Glu) rs2151162501
NM_000057.4(BLM):c.2172C>T (p.Val724=) rs2151162509
NM_000057.4(BLM):c.2178G>T (p.Lys726Asn)
NM_000057.4(BLM):c.2183C>G (p.Thr728Ser) rs1567043208
NM_000057.4(BLM):c.2189T>C (p.Leu730Ser)
NM_000057.4(BLM):c.2190G>A (p.Leu730=)
NM_000057.4(BLM):c.2193+1G>A rs865866188
NM_000057.4(BLM):c.2193+1G>T rs865866188
NM_000057.4(BLM):c.2193+1_2193+9del rs1060500652
NM_000057.4(BLM):c.2196T>G (p.Ile732Met)
NM_000057.4(BLM):c.2197C>T (p.Pro733Ser)
NM_000057.4(BLM):c.2200G>A (p.Ala734Thr) rs1301298294
NM_000057.4(BLM):c.2200G>T (p.Ala734Ser) rs1301298294
NM_000057.4(BLM):c.2204C>T (p.Thr735Ile) rs1596235743
NM_000057.4(BLM):c.2205A>G (p.Thr735=) rs757134420
NM_000057.4(BLM):c.2205A>T (p.Thr735=) rs757134420
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.2209C>A (p.Leu737Met)
NM_000057.4(BLM):c.220A>G (p.Ser74Gly) rs1895604535
NM_000057.4(BLM):c.2212A>G (p.Thr738Ala) rs1050741211
NM_000057.4(BLM):c.2213C>T (p.Thr738Ile)
NM_000057.4(BLM):c.2215G>A (p.Gly739Ser) rs745642690
NM_000057.4(BLM):c.2217T>C (p.Gly739=)
NM_000057.4(BLM):c.2219A>G (p.Asp740Gly)
NM_000057.4(BLM):c.2221A>C (p.Lys741Gln)
NM_000057.4(BLM):c.2223G>T (p.Lys741Asn)
NM_000057.4(BLM):c.2226T>G (p.Thr742=)
NM_000057.4(BLM):c.2229C>T (p.Asp743=) rs889046632
NM_000057.4(BLM):c.2233G>A (p.Glu745Lys) rs1596235872
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.223G>C (p.Glu75Gln) rs1205667946
NM_000057.4(BLM):c.2240C>A (p.Thr747Lys)
NM_000057.4(BLM):c.2240C>T (p.Thr747Ile)
NM_000057.4(BLM):c.2243A>G (p.Asn748Ser)
NM_000057.4(BLM):c.2243del (p.Asn748fs)
NM_000057.4(BLM):c.2245A>G (p.Ile749Val)
NM_000057.4(BLM):c.2246T>C (p.Ile749Thr)
NM_000057.4(BLM):c.2254C>A (p.Gln752Lys) rs1424485988
NM_000057.4(BLM):c.2256G>A (p.Gln752=)
NM_000057.4(BLM):c.2259A>G (p.Leu753=)
NM_000057.4(BLM):c.2261C>G (p.Ser754Ter)
NM_000057.4(BLM):c.2268del (p.Asp757fs) rs747341586
NM_000057.4(BLM):c.226C>T (p.Pro76Ser) rs768843912
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>A (p.Ile759Asn) rs1056077835
NM_000057.4(BLM):c.2276T>C (p.Ile759Thr) rs1056077835
NM_000057.4(BLM):c.2280A>C (p.Ile760=) rs1596236007
NM_000057.4(BLM):c.2281A>G (p.Lys761Glu) rs1555420599
NM_000057.4(BLM):c.2284C>A (p.Leu762Ile)
NM_000057.4(BLM):c.2284C>T (p.Leu762Phe)
NM_000057.4(BLM):c.2288T>C (p.Leu763Pro)
NM_000057.4(BLM):c.2290T>C (p.Tyr764His)
NM_000057.4(BLM):c.2291_2292del (p.Tyr764fs) rs1555420602
NM_000057.4(BLM):c.2294T>C (p.Val765Ala)
NM_000057.4(BLM):c.2297C>G (p.Thr766Ser)
NM_000057.4(BLM):c.2302G>A (p.Glu768Lys) rs1060500640
NM_000057.4(BLM):c.2305A>C (p.Lys769Gln)
NM_000057.4(BLM):c.2307+5G>A rs1596236061
NM_000057.4(BLM):c.2307+5G>C rs1596236061
NM_000057.4(BLM):c.2308-2A>G rs1248548542
NM_000057.4(BLM):c.2308-4C>G rs1596238148
NM_000057.4(BLM):c.2309T>C (p.Ile770Thr)
NM_000057.4(BLM):c.2312G>A (p.Cys771Tyr) rs1555420831
NM_000057.4(BLM):c.2314G>A (p.Ala772Thr)
NM_000057.4(BLM):c.2316A>G (p.Ala772=) rs752835659
NM_000057.4(BLM):c.2318G>A (p.Ser773Asn) rs1896222659
NM_000057.4(BLM):c.231A>G (p.Leu77=) rs760696149
NM_000057.4(BLM):c.2320A>G (p.Asn774Asp)
NM_000057.4(BLM):c.2322C>T (p.Asn774=)
NM_000057.4(BLM):c.2328C>T (p.Leu776=)
NM_000057.4(BLM):c.2329A>G (p.Ile777Val) rs764097842
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.2339T>C (p.Leu780Pro)
NM_000057.4(BLM):c.233C>A (p.Pro78His)
NM_000057.4(BLM):c.2341G>A (p.Glu781Lys) rs2151165708
NM_000057.4(BLM):c.2343G>C (p.Glu781Asp)
NM_000057.4(BLM):c.2343_2344dup (p.Asn782fs) rs1555420842
NM_000057.4(BLM):c.2346T>C (p.Asn782=) rs2151165716
NM_000057.4(BLM):c.2347C>G (p.Leu783Val)
NM_000057.4(BLM):c.2349C>A (p.Leu783=)
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.2352T>C (p.Tyr784=)
NM_000057.4(BLM):c.2356A>C (p.Arg786=)
NM_000057.4(BLM):c.2359A>G (p.Lys787Glu) rs2151165751
NM_000057.4(BLM):c.2362C>T (p.Leu788Phe) rs149754073
NM_000057.4(BLM):c.2366T>G (p.Leu789Trp)
NM_000057.4(BLM):c.2368G>A (p.Ala790Thr)
NM_000057.4(BLM):c.2369C>A (p.Ala790Glu)
NM_000057.4(BLM):c.2369C>T (p.Ala790Val) rs2151165767
NM_000057.4(BLM):c.2372G>C (p.Arg791Pro)
NM_000057.4(BLM):c.2374T>C (p.Phe792Leu)
NM_000057.4(BLM):c.2374T>G (p.Phe792Val) rs982156188
NM_000057.4(BLM):c.2376T>A (p.Phe792Leu)
NM_000057.4(BLM):c.2377G>A (p.Val793Ile) rs1198070682
NM_000057.4(BLM):c.2380A>T (p.Ile794Phe)
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.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.2396G>T (p.Cys799Phe)
NM_000057.4(BLM):c.2400C>T (p.Val800=)
NM_000057.4(BLM):c.2401A>G (p.Ser801Gly)
NM_000057.4(BLM):c.2404_2407del (p.Gln802fs) rs1567045235
NM_000057.4(BLM):c.2406+5A>G rs763104913
NM_000057.4(BLM):c.2406G>A (p.Gln802=)
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.2411G>A (p.Gly804Glu)
NM_000057.4(BLM):c.2414A>G (p.His805Arg) rs766292814
NM_000057.4(BLM):c.2419T>A (p.Phe807Ile)
NM_000057.4(BLM):c.241A>G (p.Thr81Ala) rs1060500637
NM_000057.4(BLM):c.2421T>C (p.Phe807=) rs2151166092
NM_000057.4(BLM):c.2426A>G (p.Gln809Arg)
NM_000057.4(BLM):c.2427A>G (p.Gln809=) rs1896236372
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.243A>G (p.Thr81=)
NM_000057.4(BLM):c.2442G>T (p.Met814Ile) rs1896237351
NM_000057.4(BLM):c.2443A>C (p.Asn815His)
NM_000057.4(BLM):c.2443A>G (p.Asn815Asp)
NM_000057.4(BLM):c.2444A>C (p.Asn815Thr)
NM_000057.4(BLM):c.2447T>C (p.Met816Thr)
NM_000057.4(BLM):c.2448G>A (p.Met816Ile)
NM_000057.4(BLM):c.244A>G (p.Asn82Asp)
NM_000057.4(BLM):c.2452C>T (p.Arg818Cys) rs1279814185
NM_000057.4(BLM):c.2452_2454delinsGGG (p.Arg818Gly) rs587779882
NM_000057.4(BLM):c.2453G>T (p.Arg818Leu) rs780514723
NM_000057.4(BLM):c.2454C>A (p.Arg818=) rs746409922
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.2469T>C (p.Ser823=) rs780438135
NM_000057.4(BLM):c.2474C>A (p.Pro825Gln)
NM_000057.4(BLM):c.2475G>C (p.Pro825=) rs147587050
NM_000057.4(BLM):c.2478G>A (p.Val826=)
NM_000057.4(BLM):c.2478G>C (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.2493C>T (p.Ala831=) rs2151166253
NM_000057.4(BLM):c.2494A>T (p.Thr832Ser)
NM_000057.4(BLM):c.2495C>T (p.Thr832Ile)
NM_000057.4(BLM):c.2496A>C (p.Thr832=) rs762840557
NM_000057.4(BLM):c.2496A>G (p.Thr832=)
NM_000057.4(BLM):c.2498C>G (p.Ala833Gly)
NM_000057.4(BLM):c.249G>A (p.Gln83=) rs1430623511
NM_000057.4(BLM):c.2502T>G (p.Asn834Lys)
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.2508G>A (p.Arg836=) rs2151166304
NM_000057.4(BLM):c.2508G>C (p.Arg836Ser)
NM_000057.4(BLM):c.2515_2517del (p.Lys839del)
NM_000057.4(BLM):c.2516A>C (p.Lys839Thr)
NM_000057.4(BLM):c.2516A>G (p.Lys839Arg) rs756815062
NM_000057.4(BLM):c.2518G>A (p.Asp840Asn) rs1238410843
NM_000057.4(BLM):c.2521A>G (p.Ile841Val)
NM_000057.4(BLM):c.2522T>A (p.Ile841Asn)
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.2532G>T (p.Gln844His) rs1596238939
NM_000057.4(BLM):c.2534T>C (p.Leu845Pro)
NM_000057.4(BLM):c.2535G>A (p.Leu845=)
NM_000057.4(BLM):c.2539A>G (p.Ile847Val)
NM_000057.4(BLM):c.2539A>T (p.Ile847Phe) rs1896243843
NM_000057.4(BLM):c.2540T>G (p.Ile847Ser) rs756664681
NM_000057.4(BLM):c.2544C>G (p.Leu848=)
NM_000057.4(BLM):c.2549C>T (p.Pro850Leu) rs1896244485
NM_000057.4(BLM):c.254G>A (p.Arg85Lys)
NM_000057.4(BLM):c.2555+1G>A
NM_000057.4(BLM):c.2555+1G>C
NM_000057.4(BLM):c.2556-2A>G rs1596250255
NM_000057.4(BLM):c.2556-8T>C 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.256G>C (p.Val86Leu) rs1596218041
NM_000057.4(BLM):c.2570T>G (p.Phe857Cys)
NM_000057.4(BLM):c.2576G>A (p.Arg859Lys)
NM_000057.4(BLM):c.257T>A (p.Val86Asp)
NM_000057.4(BLM):c.2584C>G (p.Leu862Val) rs1596250300
NM_000057.4(BLM):c.258C>G (p.Val86=)
NM_000057.4(BLM):c.2593T>C (p.Tyr865His)
NM_000057.4(BLM):c.2594A>C (p.Tyr865Ser) rs777842626
NM_000057.4(BLM):c.2595T>C (p.Tyr865=) rs1060503989
NM_000057.4(BLM):c.2598A>G (p.Val866=) rs574053990
NM_000057.4(BLM):c.25C>G (p.Leu9Val) rs1596215640
NM_000057.4(BLM):c.2601A>C (p.Leu867Phe)
NM_000057.4(BLM):c.2603C>G (p.Pro868Arg) rs2227935
NM_000057.4(BLM):c.2605A>G (p.Lys869Glu)
NM_000057.4(BLM):c.2606A>G (p.Lys869Arg)
NM_000057.4(BLM):c.2608A>C (p.Lys870Gln) rs2151178094
NM_000057.4(BLM):c.2614A>G (p.Lys872Glu)
NM_000057.4(BLM):c.2616A>G (p.Lys872=)
NM_000057.4(BLM):c.2617A>C (p.Lys873Gln)
NM_000057.4(BLM):c.2618A>G (p.Lys873Arg)
NM_000057.4(BLM):c.2619G>T (p.Lys873Asn)
NM_000057.4(BLM):c.2620G>A (p.Val874Met) rs1896652959
NM_000057.4(BLM):c.2622G>A (p.Val874=) rs760261440
NM_000057.4(BLM):c.2623G>A (p.Ala875Thr)
NM_000057.4(BLM):c.2624C>A (p.Ala875Glu) rs1596250413
NM_000057.4(BLM):c.2624C>T (p.Ala875Val)
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.2630_2633del (p.Asp877fs)
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.2643G>A (p.Trp881Ter) rs367543039
NM_000057.4(BLM):c.2647A>G (p.Arg883Gly) rs1035944262
NM_000057.4(BLM):c.264CTT[1] (p.Phe90del) rs1555418301
NM_000057.4(BLM):c.2657A>T (p.His886Leu)
NM_000057.4(BLM):c.2660C>T (p.Pro887Leu)
NM_000057.4(BLM):c.2662+2T>C rs1567052324
NM_000057.4(BLM):c.2667T>C (p.Asp889=)
NM_000057.4(BLM):c.2671G>A (p.Gly891Arg)
NM_000057.4(BLM):c.2672G>A (p.Gly891Glu) rs763471784
NM_000057.4(BLM):c.2676A>G (p.Ile892Met)
NM_000057.4(BLM):c.267_271delinsTTTT (p.Asn92fs)
NM_000057.4(BLM):c.2683T>C (p.Cys895Arg)
NM_000057.4(BLM):c.2683T>G (p.Cys895Gly) rs587779883
NM_000057.4(BLM):c.2684G>A (p.Cys895Tyr)
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.2687T>C (p.Leu896Pro)
NM_000057.4(BLM):c.2689T>C (p.Ser897Pro) rs1896706876
NM_000057.4(BLM):c.2692A>T (p.Arg898Trp)
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.2704G>A (p.Asp902Asn)
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.270T>C (p.Phe90=)
NM_000057.4(BLM):c.2711T>C (p.Met904Thr)
NM_000057.4(BLM):c.2713G>A (p.Ala905Thr) rs1596252085
NM_000057.4(BLM):c.2714C>T (p.Ala905Val)
NM_000057.4(BLM):c.2716G>A (p.Asp906Asn) rs2151179756
NM_000057.4(BLM):c.2718C>T (p.Asp906=)
NM_000057.4(BLM):c.2725C>G (p.Gln909Glu) rs1456964727
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.2735G>A (p.Gly912Glu) rs2151179803
NM_000057.4(BLM):c.2736G>A (p.Gly912=)
NM_000057.4(BLM):c.2736G>C (p.Gly912=)
NM_000057.4(BLM):c.2737C>T (p.Leu913Phe)
NM_000057.4(BLM):c.2740G>T (p.Ala914Ser)
NM_000057.4(BLM):c.2743G>A (p.Ala915Thr) rs1896709530
NM_000057.4(BLM):c.2746C>G (p.Leu916Val) rs1424143421
NM_000057.4(BLM):c.2746C>T (p.Leu916Phe)
NM_000057.4(BLM):c.2754C>T (p.Tyr918=)
NM_000057.4(BLM):c.2755C>G (p.His919Asp)
NM_000057.4(BLM):c.2755C>T (p.His919Tyr) rs1284859576
NM_000057.4(BLM):c.2762G>C (p.Gly921Ala)
NM_000057.4(BLM):c.2768G>A (p.Ser923Asn) rs1219485932
NM_000057.4(BLM):c.2769T>C (p.Ser923=) rs1596252204
NM_000057.4(BLM):c.2774C>A (p.Ser925Tyr) rs2151179877
NM_000057.4(BLM):c.2775T>C (p.Ser925=) rs1596252208
NM_000057.4(BLM):c.2778C>G (p.Ala926=)
NM_000057.4(BLM):c.277G>A (p.Ala93Thr)
NM_000057.4(BLM):c.2781del (p.Asp928fs)
NM_000057.4(BLM):c.2783A>G (p.Asp928Gly) rs1896711135
NM_000057.4(BLM):c.2784T>G (p.Asp928Glu) rs1032746564
NM_000057.4(BLM):c.2785G>A (p.Glu929Lys)
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.2790G>A (p.Val930=)
NM_000057.4(BLM):c.2793G>A (p.Gln931=) rs1192168118
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.280C>T (p.Pro94Ser) rs1417089374
NM_000057.4(BLM):c.2811G>A (p.Gln937=)
NM_000057.4(BLM):c.2815G>A (p.Gly939Ser)
NM_000057.4(BLM):c.2823+5C>T
NM_000057.4(BLM):c.2823G>T (p.Gln941His)
NM_000057.4(BLM):c.2824-209C>G rs367658942
NM_000057.4(BLM):c.2824-5A>G
NM_000057.4(BLM):c.2829C>G (p.Ile943Met) rs1596257034
NM_000057.4(BLM):c.2833G>A (p.Ala945Thr) rs1896880211
NM_000057.4(BLM):c.2833G>T (p.Ala945Ser)
NM_000057.4(BLM):c.2838A>C (p.Thr946=)
NM_000057.4(BLM):c.2843C>A (p.Ala948Glu) rs1156545383
NM_000057.4(BLM):c.2849G>A (p.Gly950Glu)
NM_000057.4(BLM):c.284C>A (p.Ala95Glu) rs751028188
NM_000057.4(BLM):c.284C>T (p.Ala95Val) rs751028188
NM_000057.4(BLM):c.2850A>G (p.Gly950=)
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.2856G>T (p.Gly952=)
NM_000057.4(BLM):c.2858T>C (p.Ile953Thr) rs587778102
NM_000057.4(BLM):c.2860G>A (p.Asp954Asn)
NM_000057.4(BLM):c.2862C>A (p.Asp954Glu)
NM_000057.4(BLM):c.2862C>G (p.Asp954Glu)
NM_000057.4(BLM):c.2862C>T (p.Asp954=) rs907953613
NM_000057.4(BLM):c.2872G>T (p.Val958Leu)
NM_000057.4(BLM):c.2875C>T (p.Arg959Ter) rs762354041
NM_000057.4(BLM):c.2878T>A (p.Phe960Ile)
NM_000057.4(BLM):c.2878T>C (p.Phe960Leu)
NM_000057.4(BLM):c.2883G>T (p.Val961=)
NM_000057.4(BLM):c.2884A>T (p.Ile962Phe) rs1896883323
NM_000057.4(BLM):c.2887C>A (p.His963Asn)
NM_000057.4(BLM):c.2889T>C (p.His963=)
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.2896C>T (p.Leu966Phe)
NM_000057.4(BLM):c.2897T>C (p.Leu966Pro)
NM_000057.4(BLM):c.2899C>T (p.Pro967Ser)
NM_000057.4(BLM):c.2901T>A (p.Pro967=)
NM_000057.4(BLM):c.2901T>C (p.Pro967=)
NM_000057.4(BLM):c.2904A>G (p.Lys968=)
NM_000057.4(BLM):c.2908G>C (p.Val970Leu)
NM_000057.4(BLM):c.2909T>G (p.Val970Gly)
NM_000057.4(BLM):c.290A>C (p.Gln97Pro)
NM_000057.4(BLM):c.290A>G (p.Gln97Arg)
NM_000057.4(BLM):c.2910G>T (p.Val970=)
NM_000057.4(BLM):c.2915G>A (p.Gly972Asp)
NM_000057.4(BLM):c.2922C>T (p.Tyr974=)
NM_000057.4(BLM):c.2923del (p.Gln975fs) rs367543014
NM_000057.4(BLM):c.2925A>T (p.Gln975His)
NM_000057.4(BLM):c.2927A>G (p.Glu976Gly)
NM_000057.4(BLM):c.2929T>G (p.Ser977Ala) rs912097353
NM_000057.4(BLM):c.292G>A (p.Glu98Lys) rs1895608811
NM_000057.4(BLM):c.2936G>A (p.Arg979Lys) rs944867688
NM_000057.4(BLM):c.2938G>A (p.Ala980Thr) rs1041847799
NM_000057.4(BLM):c.2939C>T (p.Ala980Val)
NM_000057.4(BLM):c.2940T>C (p.Ala980=) rs1596257223
NM_000057.4(BLM):c.2940T>G (p.Ala980=) rs1596257223
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.2955A>C (p.Glu985Asp)
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>G (p.Cys989Gly)
NM_000057.4(BLM):c.2973T>C (p.Leu991=) rs2151184673
NM_000057.4(BLM):c.2978A>G (p.Tyr993Cys)
NM_000057.4(BLM):c.2981_2982delinsAG (p.Thr994Lys)
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.298_299del (p.Gln100fs) rs745807085
NM_000057.4(BLM):c.2990A>G (p.Asp997Gly)
NM_000057.4(BLM):c.2991_2995del (p.Val998fs) rs2151184718
NM_000057.4(BLM):c.2992G>A (p.Val998Met)
NM_000057.4(BLM):c.2994G>C (p.Val998=)
NM_000057.4(BLM):c.2999G>C (p.Arg1000Thr) rs1596257309
NM_000057.4(BLM):c.299A>C (p.Gln100Pro)
NM_000057.4(BLM):c.29A>G (p.Gln10Arg)
NM_000057.4(BLM):c.2T>C (p.Met1Thr) rs1057516593
NM_000057.4(BLM):c.3000A>C (p.Arg1000Ser)
NM_000057.4(BLM):c.3000A>T (p.Arg1000Ser) rs1395403568
NM_000057.4(BLM):c.3002T>A (p.Leu1001Gln)
NM_000057.4(BLM):c.3005A>C (p.Lys1002Thr) rs1596257327
NM_000057.4(BLM):c.3005A>G (p.Lys1002Arg) rs1596257327
NM_000057.4(BLM):c.3006A>G (p.Lys1002=)
NM_000057.4(BLM):c.3010C>T (p.Leu1004Phe) rs778515103
NM_000057.4(BLM):c.3011T>G (p.Leu1004Arg)
NM_000057.4(BLM):c.3012T>C (p.Leu1004=) rs2151184763
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.3017T>A (p.Met1006Lys) rs1896890020
NM_000057.4(BLM):c.3020-4_3020-3del rs1596259793
NM_000057.4(BLM):c.3023A>T (p.Glu1008Val) rs1896971371
NM_000057.4(BLM):c.3029A>T (p.Asp1010Val) rs1459742200
NM_000057.4(BLM):c.3038A>G (p.His1013Arg) rs2151187153
NM_000057.4(BLM):c.3039T>A (p.His1013Gln)
NM_000057.4(BLM):c.3039T>C (p.His1013=) rs747406569
NM_000057.4(BLM):c.3045A>G (p.Thr1015=) rs966206627
NM_000057.4(BLM):c.3047G>C (p.Arg1016Thr) rs2151187181
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.3051A>C (p.Glu1017Asp)
NM_000057.4(BLM):c.3052A>G (p.Thr1018Ala) rs1896972868
NM_000057.4(BLM):c.3054T>C (p.Thr1018=)
NM_000057.4(BLM):c.3055C>T (p.His1019Tyr)
NM_000057.4(BLM):c.3055_3058del (p.His1019fs) rs1596259860
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.3058T>C (p.Phe1020Leu)
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.3069G>A (p.Leu1023=)
NM_000057.4(BLM):c.3069G>T (p.Leu1023Phe)
NM_000057.4(BLM):c.3073A>G (p.Ser1025Gly)
NM_000057.4(BLM):c.3079G>C (p.Val1027Leu)
NM_000057.4(BLM):c.3080T>G (p.Val1027Gly)
NM_000057.4(BLM):c.3088T>C (p.Cys1030Arg)
NM_000057.4(BLM):c.3088T>G (p.Cys1030Gly) rs1896974604
NM_000057.4(BLM):c.3089G>A (p.Cys1030Tyr)
NM_000057.4(BLM):c.3090T>A (p.Cys1030Ter)
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.3095A>G (p.Asn1032Ser)
NM_000057.4(BLM):c.3097A>G (p.Ile1033Val)
NM_000057.4(BLM):c.3100A>G (p.Thr1034Ala)
NM_000057.4(BLM):c.3101C>T (p.Thr1034Met) rs753652339
NM_000057.4(BLM):c.3101del (p.Thr1034fs)
NM_000057.4(BLM):c.3107G>A (p.Cys1036Tyr)
NM_000057.4(BLM):c.3108C>T (p.Cys1036=)
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.3114A>T (p.Arg1038Ser)
NM_000057.4(BLM):c.3116T>C (p.Ile1039Thr)
NM_000057.4(BLM):c.3119A>G (p.Gln1040Arg)
NM_000057.4(BLM):c.3120G>A (p.Gln1040=) rs1567058364
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.3132C>T (p.Tyr1044=) rs2151187348
NM_000057.4(BLM):c.3137G>T (p.Gly1046Val) rs1596260021
NM_000057.4(BLM):c.3145G>A (p.Gly1049Arg)
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.3160T>G (p.Phe1054Val) rs2151187383
NM_000057.4(BLM):c.3163T>G (p.Cys1055Gly)
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.3165T>C (p.Cys1055=)
NM_000057.4(BLM):c.3166A>G (p.Lys1056Glu)
NM_000057.4(BLM):c.3167A>G (p.Lys1056Arg) rs1465842377
NM_000057.4(BLM):c.3170A>G (p.Lys1057Arg)
NM_000057.4(BLM):c.3171A>T (p.Lys1057Asn)
NM_000057.4(BLM):c.3174C>A (p.His1058Gln)
NM_000057.4(BLM):c.3174C>G (p.His1058Gln)
NM_000057.4(BLM):c.3175C>G (p.Pro1059Ala)
NM_000057.4(BLM):c.3177A>G (p.Pro1059=)
NM_000057.4(BLM):c.3177del (p.Asp1060fs)
NM_000057.4(BLM):c.3180T>C (p.Asp1060=) rs749458622
NM_000057.4(BLM):c.3181G>A (p.Val1061Ile)
NM_000057.4(BLM):c.3184T>G (p.Ser1062Ala)
NM_000057.4(BLM):c.3186T>A (p.Ser1062=) rs774258877
NM_000057.4(BLM):c.3189T>C (p.Cys1063=)
NM_000057.4(BLM):c.318A>T (p.Ser106=)
NM_000057.4(BLM):c.3191A>G (p.Asp1064Gly) rs367543032
NM_000057.4(BLM):c.3191A>T (p.Asp1064Val) rs367543032
NM_000057.4(BLM):c.3192T>C (p.Asp1064=)
NM_000057.4(BLM):c.3199_3202dup (p.Lys1068delinsMetTer)
NM_000057.4(BLM):c.3200G>A (p.Cys1067Tyr) rs587779885
NM_000057.4(BLM):c.3205A>G (p.Thr1069Ala)
NM_000057.4(BLM):c.320dup (p.Leu107fs) rs781221411
NM_000057.4(BLM):c.3210+1G>A
NM_000057.4(BLM):c.3211-3T>C rs1897074828
NM_000057.4(BLM):c.3212A>G (p.Asp1071Gly) rs1897075069
NM_000057.4(BLM):c.3212A>T (p.Asp1071Val)
NM_000057.4(BLM):c.3215A>G (p.Tyr1072Cys)
NM_000057.4(BLM):c.3216T>C (p.Tyr1072=) rs1596263143
NM_000057.4(BLM):c.3217A>G (p.Lys1073Glu)
NM_000057.4(BLM):c.3220_3221insG (p.Thr1074fs)
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.3228T>G (p.Asp1076Glu) rs2151190260
NM_000057.4(BLM):c.322T>C (p.Leu108=) rs1596218180
NM_000057.4(BLM):c.3230T>C (p.Val1077Ala)
NM_000057.4(BLM):c.3237C>A (p.Asp1079Glu)
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.3238G>T (p.Asp1080Tyr)
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.323T>C (p.Leu108Ser)
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.3243G>A (p.Val1081=)
NM_000057.4(BLM):c.3246A>G (p.Lys1082=)
NM_000057.4(BLM):c.3250A>G (p.Ile1084Val)
NM_000057.4(BLM):c.3253G>A (p.Val1085Ile)
NM_000057.4(BLM):c.3253G>T (p.Val1085Leu) rs761235042
NM_000057.4(BLM):c.3254T>A (p.Val1085Glu)
NM_000057.4(BLM):c.3254T>G (p.Val1085Gly) rs2151190324
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.3268G>A (p.Glu1090Lys)
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.3273T>G (p.His1091Gln)
NM_000057.4(BLM):c.3276T>A (p.Ser1092Arg)
NM_000057.4(BLM):c.3279A>T (p.Ser1093=)
NM_000057.4(BLM):c.3282A>G (p.Ser1094=)
NM_000057.4(BLM):c.3286G>A (p.Gly1096Arg) rs1334208387
NM_000057.4(BLM):c.3287G>T (p.Gly1096Val) rs893352310
NM_000057.4(BLM):c.3288A>G (p.Gly1096=) rs1897079440
NM_000057.4(BLM):c.3295A>G (p.Asn1099Asp)
NM_000057.4(BLM):c.3297T>C (p.Asn1099=)
NM_000057.4(BLM):c.3297T>G (p.Asn1099Lys) rs1596263307
NM_000057.4(BLM):c.32A>G (p.Glu11Gly)
NM_000057.4(BLM):c.3304C>T (p.His1102Tyr)
NM_000057.4(BLM):c.3313C>G (p.Pro1105Ala)
NM_000057.4(BLM):c.3313C>T (p.Pro1105Ser)
NM_000057.4(BLM):c.3314C>T (p.Pro1105Leu)
NM_000057.4(BLM):c.3315T>C (p.Pro1105=) rs2151190437
NM_000057.4(BLM):c.3316_3318del (p.Ser1106del)
NM_000057.4(BLM):c.3327T>C (p.Phe1109=)
NM_000057.4(BLM):c.3330T>A (p.Thr1110=)
NM_000057.4(BLM):c.3334A>G (p.Asn1112Asp) rs1352520577
NM_000057.4(BLM):c.3335A>C (p.Asn1112Thr)
NM_000057.4(BLM):c.3335A>G (p.Asn1112Ser) rs1897081867
NM_000057.4(BLM):c.3336T>C (p.Asn1112=)
NM_000057.4(BLM):c.3346G>A (p.Asp1116Asn)
NM_000057.4(BLM):c.3348C>A (p.Asp1116Glu)
NM_000057.4(BLM):c.334T>C (p.Leu112=)
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.3358+1G>A
NM_000057.4(BLM):c.3358+5G>C rs2151190518
NM_000057.4(BLM):c.3358G>C (p.Gly1120Arg) rs139773499
NM_000057.4(BLM):c.3359-2A>G
NM_000057.4(BLM):c.3359-3C>G rs765552044
NM_000057.4(BLM):c.3359-4_3359-3delinsCG
NM_000057.4(BLM):c.335T>C (p.Leu112Ser) rs1038386076
NM_000057.4(BLM):c.3360G>T (p.Gly1120=) rs1567062602
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>G (p.Ser1123Gly)
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.3376A>C (p.Ile1126Leu)
NM_000057.4(BLM):c.3377T>G (p.Ile1126Ser)
NM_000057.4(BLM):c.3380A>T (p.Gln1127Leu)
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>C (p.Gly1129Ala) rs375841213
NM_000057.4(BLM):c.3386G>T (p.Gly1129Val) rs375841213
NM_000057.4(BLM):c.3388A>G (p.Ile1130Val) rs1897213239
NM_000057.4(BLM):c.3389T>C (p.Ile1130Thr)
NM_000057.4(BLM):c.3393T>G (p.Phe1131Leu)
NM_000057.4(BLM):c.3394G>C (p.Gly1132Arg)
NM_000057.4(BLM):c.3398A>G (p.Lys1133Arg)
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.3403T>A (p.Ser1135Thr)
NM_000057.4(BLM):c.3404C>T (p.Ser1135Phe)
NM_000057.4(BLM):c.3406G>T (p.Ala1136Ser)
NM_000057.4(BLM):c.3407C>T (p.Ala1136Val)
NM_000057.4(BLM):c.3410A>G (p.Tyr1137Cys)
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.341C>T (p.Thr114Ile)
NM_000057.4(BLM):c.3420C>T (p.His1140=)
NM_000057.4(BLM):c.3421delinsTTTTT (p.Asn1141fs)
NM_000057.4(BLM):c.3425C>T (p.Ala1142Val)
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.3432A>G (p.Arg1144=)
NM_000057.4(BLM):c.3433C>G (p.Leu1145Val)
NM_000057.4(BLM):c.3437T>C (p.Phe1146Ser)
NM_000057.4(BLM):c.343C>A (p.Pro115Thr) rs1173491187
NM_000057.4(BLM):c.3443A>C (p.Lys1148Thr) rs1897215421
NM_000057.4(BLM):c.3445C>A (p.Leu1149Met)
NM_000057.4(BLM):c.3445_3450delinsT (p.Leu1149fs)
NM_000057.4(BLM):c.3447G>A (p.Leu1149=) rs1195487968
NM_000057.4(BLM):c.3448A>T (p.Ile1150Leu)
NM_000057.4(BLM):c.344C>G (p.Pro115Arg)
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.345G>C (p.Pro115=) rs374578971
NM_000057.4(BLM):c.3460A>G (p.Ile1154Val) rs2151194288
NM_000057.4(BLM):c.3465G>A (p.Leu1155=)
NM_000057.4(BLM):c.3467A>G (p.Asp1156Gly)
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.3476T>C (p.Leu1159Ser)
NM_000057.4(BLM):c.3478T>A (p.Tyr1160Asn) rs752389778
NM_000057.4(BLM):c.3480T>C (p.Tyr1160=)
NM_000057.4(BLM):c.3480del (p.Leu1159_Tyr1160insTer)
NM_000057.4(BLM):c.3481A>G (p.Ile1161Val) rs1897217586
NM_000057.4(BLM):c.3483C>G (p.Ile1161Met)
NM_000057.4(BLM):c.3483C>T (p.Ile1161=)
NM_000057.4(BLM):c.3488C>T (p.Ala1163Val)
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.3495C>G (p.Asp1165Glu) rs767536788
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>A (p.Ala1167Glu)
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.3503T>C (p.Ile1168Thr) rs1897218823
NM_000057.4(BLM):c.3505G>T (p.Ala1169Ser)
NM_000057.4(BLM):c.3506C>T (p.Ala1169Val)
NM_000057.4(BLM):c.3507T>G (p.Ala1169=)
NM_000057.4(BLM):c.3508del (p.Tyr1170fs) rs1555424311
NM_000057.4(BLM):c.3509A>G (p.Tyr1170Cys) rs746692894
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.3514A>C (p.Met1172Leu) rs745380387
NM_000057.4(BLM):c.3514A>G (p.Met1172Val)
NM_000057.4(BLM):c.3517C>T (p.Leu1173Phe) rs1596267698
NM_000057.4(BLM):c.3520G>A (p.Gly1174Arg) rs776156059
NM_000057.4(BLM):c.3526A>G (p.Lys1176Glu)
NM_000057.4(BLM):c.3535A>G (p.Thr1179Ala) rs1344786638
NM_000057.4(BLM):c.3535del (p.Thr1179fs)
NM_000057.4(BLM):c.3536C>G (p.Thr1179Ser)
NM_000057.4(BLM):c.3536C>T (p.Thr1179Ile) rs1555424324
NM_000057.4(BLM):c.3538G>A (p.Val1180Ile) rs1324479116
NM_000057.4(BLM):c.3538G>C (p.Val1180Leu)
NM_000057.4(BLM):c.3538_3539del (p.Val1180fs)
NM_000057.4(BLM):c.3540A>G (p.Val1180=)
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.354T>G (p.Val118=)
NM_000057.4(BLM):c.3550A>C (p.Asn1184His)
NM_000057.4(BLM):c.3550A>G (p.Asn1184Asp) rs1463025227
NM_000057.4(BLM):c.3551A>G (p.Asn1184Ser) rs1596267777
NM_000057.4(BLM):c.3551A>T (p.Asn1184Ile)
NM_000057.4(BLM):c.3552T>C (p.Asn1184=)
NM_000057.4(BLM):c.3553T>G (p.Leu1185Val)
NM_000057.4(BLM):c.3558+2T>C rs1897222054
NM_000057.4(BLM):c.3561A>C (p.Val1187=)
NM_000057.4(BLM):c.3562G>A (p.Asp1188Asn)
NM_000057.4(BLM):c.3563A>C (p.Asp1188Ala)
NM_000057.4(BLM):c.3563A>G (p.Asp1188Gly) rs899745787
NM_000057.4(BLM):c.3563A>T (p.Asp1188Val) rs899745787
NM_000057.4(BLM):c.3564C>T (p.Asp1188=)
NM_000057.4(BLM):c.3564del (p.Phe1189fs) rs1486692931
NM_000057.4(BLM):c.3569T>A (p.Met1190Lys)
NM_000057.4(BLM):c.3569delinsAA (p.Met1190fs) rs1567063125
NM_000057.4(BLM):c.3577G>A (p.Glu1193Lys)
NM_000057.4(BLM):c.357A>G (p.Val119=)
NM_000057.4(BLM):c.3586A>G (p.Ser1196Gly)
NM_000057.4(BLM):c.3589A>T (p.Ser1197Cys) rs1596268133
NM_000057.4(BLM):c.358T>C (p.Cys120Arg)
NM_000057.4(BLM):c.3591T>C (p.Ser1197=) rs1596268143
NM_000057.4(BLM):c.3593T>C (p.Val1198Ala)
NM_000057.4(BLM):c.3597A>G (p.Lys1199=)
NM_000057.4(BLM):c.3598A>C (p.Lys1200Gln)
NM_000057.4(BLM):c.359G>T (p.Cys120Phe)
NM_000057.4(BLM):c.3601C>A (p.Gln1201Lys)
NM_000057.4(BLM):c.3603A>G (p.Gln1201=) rs2151194830
NM_000057.4(BLM):c.3606A>G (p.Lys1202=)
NM_000057.4(BLM):c.3607G>A (p.Ala1203Thr) rs1335563585
NM_000057.4(BLM):c.3609G>C (p.Ala1203=) rs151114049
NM_000057.4(BLM):c.3610T>C (p.Leu1204=)
NM_000057.4(BLM):c.3612A>G (p.Leu1204=)
NM_000057.4(BLM):c.3612A>T (p.Leu1204Phe)
NM_000057.4(BLM):c.3614T>A (p.Val1205Glu)
NM_000057.4(BLM):c.3614T>C (p.Val1205Ala)
NM_000057.4(BLM):c.3615A>G (p.Val1205=)
NM_000057.4(BLM):c.3616G>A (p.Ala1206Thr) rs1897234089
NM_000057.4(BLM):c.3616G>C (p.Ala1206Pro)
NM_000057.4(BLM):c.3617C>A (p.Ala1206Glu) rs1319362226
NM_000057.4(BLM):c.3618A>G (p.Ala1206=)
NM_000057.4(BLM):c.3619A>G (p.Lys1207Glu)
NM_000057.4(BLM):c.3629A>G (p.Gln1210Arg)
NM_000057.4(BLM):c.3633G>A (p.Arg1211=)
NM_000057.4(BLM):c.363T>C (p.Thr121=)
NM_000057.4(BLM):c.3641T>C (p.Met1214Thr) rs1596268211
NM_000057.4(BLM):c.3643G>T (p.Val1215Phe)
NM_000057.4(BLM):c.3647A>C (p.Lys1216Thr) rs748798772
NM_000057.4(BLM):c.3651A>T (p.Lys1217Asn) rs587779887
NM_000057.4(BLM):c.3658G>A (p.Gly1220Arg) rs1567063212
NM_000057.4(BLM):c.3659G>A (p.Gly1220Glu)
NM_000057.4(BLM):c.365C>T (p.Thr122Ile)
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>T (p.Glu1224Val)
NM_000057.4(BLM):c.3672A>G (p.Glu1224=) rs1555424393
NM_000057.4(BLM):c.3679A>T (p.Lys1227Ter) rs1596268270
NM_000057.4(BLM):c.3681A>G (p.Lys1227=)
NM_000057.4(BLM):c.3683C>A (p.Ser1228Tyr) rs1897236482
NM_000057.4(BLM):c.3685C>G (p.Leu1229Val) rs1555424395
NM_000057.4(BLM):c.3687G>A (p.Leu1229=)
NM_000057.4(BLM):c.368A>C (p.Gln123Pro)
NM_000057.4(BLM):c.3694G>A (p.Val1232Ile) rs1897236925
NM_000057.4(BLM):c.369A>C (p.Gln123His)
NM_000057.4(BLM):c.3700G>A (p.Gly1234Ser)
NM_000057.4(BLM):c.3701G>A (p.Gly1234Asp)
NM_000057.4(BLM):c.3717T>C (p.Asn1239=)
NM_000057.4(BLM):c.3718A>G (p.Ile1240Val)
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.3735T>A (p.Thr1245=)
NM_000057.4(BLM):c.3737_3738del (p.Leu1246fs) rs1897238597
NM_000057.4(BLM):c.3741G>A (p.Lys1247=) rs2151195000
NM_000057.4(BLM):c.3743A>G (p.Lys1248Arg) rs1555424404
NM_000057.4(BLM):c.3743A>T (p.Lys1248Met) rs1555424404
NM_000057.4(BLM):c.3747T>A (p.Leu1249=) rs776748831
NM_000057.4(BLM):c.3752-3C>T
NM_000057.4(BLM):c.3753A>G (p.Glu1251=)
NM_000057.4(BLM):c.3755C>A (p.Ser1252Tyr)
NM_000057.4(BLM):c.3757T>A (p.Leu1253Ile)
NM_000057.4(BLM):c.3757T>G (p.Leu1253Val) rs1249288071
NM_000057.4(BLM):c.3758T>C (p.Leu1253Ser) rs2151198266
NM_000057.4(BLM):c.3760T>C (p.Ser1254Pro)
NM_000057.4(BLM):c.3764C>T (p.Ser1255Phe) rs1897347737
NM_000057.4(BLM):c.3769C>A (p.Pro1257Thr)
NM_000057.4(BLM):c.376C>A (p.Pro126Thr)
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.3778T>G (p.Leu1260Val) rs2151198289
NM_000057.4(BLM):c.3786A>G (p.Gln1262=) rs1567065650
NM_000057.4(BLM):c.3787A>G (p.Ile1263Val)
NM_000057.4(BLM):c.3789T>C (p.Ile1263=)
NM_000057.4(BLM):c.378A>G (p.Pro126=)
NM_000057.4(BLM):c.3796G>A (p.Val1266Ile)
NM_000057.4(BLM):c.379A>G (p.Thr127Ala) rs528474170
NM_000057.4(BLM):c.3801T>C (p.Thr1267=)
NM_000057.4(BLM):c.3803A>G (p.Glu1268Gly)
NM_000057.4(BLM):c.3803A>T (p.Glu1268Val) rs1897348799
NM_000057.4(BLM):c.3805G>A (p.Asp1269Asn)
NM_000057.4(BLM):c.380C>T (p.Thr127Ile) rs1895613545
NM_000057.4(BLM):c.3825T>G (p.Gly1275=)
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.3828G>T (p.Ala1276=)
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.3839C>G (p.Ser1280Ter)
NM_000057.4(BLM):c.383T>C (p.Val128Ala)
NM_000057.4(BLM):c.3841G>A (p.Val1281Ile) rs1018540956
NM_000057.4(BLM):c.3844T>C (p.Leu1282=)
NM_000057.4(BLM):c.3844T>G (p.Leu1282Val)
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter) rs367543031
NM_000057.4(BLM):c.3849G>T (p.Gln1283His)
NM_000057.4(BLM):c.384A>C (p.Val128=)
NM_000057.4(BLM):c.3857C>A (p.Ser1286Tyr)
NM_000057.4(BLM):c.3859G>T (p.Glu1287Ter)
NM_000057.4(BLM):c.3861A>G (p.Glu1287=) rs977539638
NM_000057.4(BLM):c.3867A>T (p.Thr1289=)
NM_000057.4(BLM):c.3870G>A (p.Ser1290=) rs1250145765
NM_000057.4(BLM):c.3870G>T (p.Ser1290=)
NM_000057.4(BLM):c.3872C>A (p.Pro1291Gln)
NM_000057.4(BLM):c.3875-1G>A rs2151199690
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.387_389del (p.Lys130del) rs587778105
NM_000057.4(BLM):c.3880G>T (p.Asp1294Tyr) rs560132774
NM_000057.4(BLM):c.3883A>G (p.Ser1295Gly)
NM_000057.4(BLM):c.3884G>C (p.Ser1295Thr)
NM_000057.4(BLM):c.3885T>C (p.Ser1295=)
NM_000057.4(BLM):c.3889C>T (p.Pro1297Ser)
NM_000057.4(BLM):c.3890del (p.Pro1297fs) rs1555425062
NM_000057.4(BLM):c.3891del (p.Gly1298_Ile1299insTer)
NM_000057.4(BLM):c.3892G>C (p.Gly1298Arg)
NM_000057.4(BLM):c.3893G>A (p.Gly1298Glu)
NM_000057.4(BLM):c.3894G>A (p.Gly1298=)
NM_000057.4(BLM):c.389A>G (p.Lys130Arg)
NM_000057.4(BLM):c.3900C>T (p.Ser1300=) rs769564626
NM_000057.4(BLM):c.3901C>T (p.Leu1301=)
NM_000057.4(BLM):c.3903G>A (p.Leu1301=) rs762626349
NM_000057.4(BLM):c.3905C>T (p.Ser1302Phe) rs1897408433
NM_000057.4(BLM):c.3906C>T (p.Ser1302=)
NM_000057.4(BLM):c.3909C>T (p.Ser1303=) rs1897408551
NM_000057.4(BLM):c.390A>G (p.Lys130=) rs1050583942
NM_000057.4(BLM):c.3916G>A (p.Gly1306Ser)
NM_000057.4(BLM):c.3918C>T (p.Gly1306=) rs1393792078
NM_000057.4(BLM):c.3922G>C (p.Gly1308Arg) rs768010078
NM_000057.4(BLM):c.3930T>A (p.Ser1310Arg)
NM_000057.4(BLM):c.3930T>G (p.Ser1310Arg) rs886051552
NM_000057.4(BLM):c.3933C>G (p.Ala1311=)
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.3943C>T (p.Leu1315Phe) rs959925706
NM_000057.4(BLM):c.3944T>C (p.Leu1315Pro)
NM_000057.4(BLM):c.3944_3945delinsCT (p.Leu1315Pro) rs1567066844
NM_000057.4(BLM):c.3946G>A (p.Asp1316Asn) rs779179608
NM_000057.4(BLM):c.3947A>G (p.Asp1316Gly)
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.3953A>G (p.Glu1318Gly) rs2151199835
NM_000057.4(BLM):c.3955A>G (p.Ile1319Val)
NM_000057.4(BLM):c.3958C>A (p.Pro1320Thr) rs1596273579
NM_000057.4(BLM):c.3961G>C (p.Val1321Leu) rs7167216
NM_000057.4(BLM):c.3965C>A (p.Ser1322Tyr)
NM_000057.4(BLM):c.3967T>C (p.Ser1323Pro)
NM_000057.4(BLM):c.396G>A (p.Arg132=) rs2151147285
NM_000057.4(BLM):c.3978T>C (p.Phe1326=) rs1265868495
NM_000057.4(BLM):c.3978T>G (p.Phe1326Leu)
NM_000057.4(BLM):c.3979G>A (p.Ala1327Thr)
NM_000057.4(BLM):c.397G>T (p.Asp133Tyr) rs762621627
NM_000057.4(BLM):c.397del (p.Asp133fs)
NM_000057.4(BLM):c.398A>G (p.Asp133Gly) rs1895614433
NM_000057.4(BLM):c.3993A>C (p.Arg1331Ser)
NM_000057.4(BLM):c.39A>G (p.Leu13=)
NM_000057.4(BLM):c.4000_4004del (p.Arg1334fs) rs1057516261
NM_000057.4(BLM):c.4005G>A (p.Lys1335=) rs1449845656
NM_000057.4(BLM):c.4005G>C (p.Lys1335Asn)
NM_000057.4(BLM):c.4006A>G (p.Arg1336Gly) rs1897414526
NM_000057.4(BLM):c.4011A>G (p.Lys1337=) rs142063329
NM_000057.4(BLM):c.4012A>C (p.Lys1338Gln)
NM_000057.4(BLM):c.4015A>G (p.Met1339Val)
NM_000057.4(BLM):c.4022C>A (p.Ala1341Asp)
NM_000057.4(BLM):c.4026C>T (p.Ser1342=) rs766689783
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.4038G>A (p.Lys1346=) rs2151199967
NM_000057.4(BLM):c.4039A>G (p.Arg1347Gly) rs1596273711
NM_000057.4(BLM):c.403G>C (p.Ala135Pro) rs373832397
NM_000057.4(BLM):c.4047A>G (p.Lys1349=)
NM_000057.4(BLM):c.404C>G (p.Ala135Gly)
NM_000057.4(BLM):c.4050T>C (p.Thr1350=)
NM_000057.4(BLM):c.4054T>A (p.Ser1352Thr)
NM_000057.4(BLM):c.4055C>T (p.Ser1352Phe) rs1596273746
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.4065C>T (p.Ser1355=)
NM_000057.4(BLM):c.4068G>A (p.Lys1356=) rs587779890
NM_000057.4(BLM):c.4069G>T (p.Ala1357Ser)
NM_000057.4(BLM):c.4074G>A (p.Lys1358=)
NM_000057.4(BLM):c.4075G>A (p.Gly1359Arg)
NM_000057.4(BLM):c.4076+1G>T rs752899566
NM_000057.4(BLM):c.4076+1del rs763072825
NM_000057.4(BLM):c.4076+5G>T
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.4079G>C (p.Gly1360Ala)
NM_000057.4(BLM):c.4079G>T (p.Gly1360Val)
NM_000057.4(BLM):c.407T>C (p.Leu136Pro)
NM_000057.4(BLM):c.407T>G (p.Leu136Arg)
NM_000057.4(BLM):c.4080G>A (p.Gly1360=)
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>T (p.Thr1363=) rs2151202237
NM_000057.4(BLM):c.408C>G (p.Leu136=)
NM_000057.4(BLM):c.4090T>G (p.Cys1364Gly)
NM_000057.4(BLM):c.4091G>A (p.Cys1364Tyr)
NM_000057.4(BLM):c.4091G>C (p.Cys1364Ser)
NM_000057.4(BLM):c.4097A>G (p.Lys1366Arg)
NM_000057.4(BLM):c.4098G>C (p.Lys1366Asn)
NM_000057.4(BLM):c.4099A>G (p.Ile1367Val)
NM_000057.4(BLM):c.409A>G (p.Lys137Glu) rs890597009
NM_000057.4(BLM):c.40G>C (p.Glu14Gln)
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.4108A>G (p.Lys1370Glu)
NM_000057.4(BLM):c.4109A>G (p.Lys1370Arg)
NM_000057.4(BLM):c.4110A>G (p.Lys1370=) rs1555425406
NM_000057.4(BLM):c.4115A>G (p.Lys1372Arg)
NM_000057.4(BLM):c.4116A>G (p.Lys1372=) rs753664070
NM_000057.4(BLM):c.4117T>A (p.Ser1373Thr)
NM_000057.4(BLM):c.411G>A (p.Lys137=)
NM_000057.4(BLM):c.411G>T (p.Lys137Asn)
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.4124G>A (p.Ser1375Asn) rs139115275
NM_000057.4(BLM):c.4125C>T (p.Ser1375=)
NM_000057.4(BLM):c.4133G>C (p.Gly1378Ala)
NM_000057.4(BLM):c.4141T>C (p.Ser1381Pro)
NM_000057.4(BLM):c.4142C>T (p.Ser1381Leu) rs1277229461
NM_000057.4(BLM):c.4151A>G (p.His1384Arg) rs199592406
NM_000057.4(BLM):c.4153A>G (p.Thr1385Ala) rs1382270916
NM_000057.4(BLM):c.4153A>T (p.Thr1385Ser)
NM_000057.4(BLM):c.4154C>T (p.Thr1385Ile) rs1596276510
NM_000057.4(BLM):c.4156T>C (p.Ser1386Pro)
NM_000057.4(BLM):c.4158T>A (p.Ser1386=) rs746522338
NM_000057.4(BLM):c.4161A>C (p.Gln1387His)
NM_000057.4(BLM):c.4162G>C (p.Ala1388Pro) rs1567068979
NM_000057.4(BLM):c.4164G>A (p.Ala1388=) rs1429829646
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.4172G>C (p.Gly1391Ala)
NM_000057.4(BLM):c.4174G>C (p.Ala1392Pro)
NM_000057.4(BLM):c.4175C>T (p.Ala1392Val)
NM_000057.4(BLM):c.4179T>C (p.Asn1393=) rs1596276561
NM_000057.4(BLM):c.4182C>A (p.Ser1394Arg) rs1596276569
NM_000057.4(BLM):c.4187T>G (p.Leu1396Trp)
NM_000057.4(BLM):c.4191G>A (p.Gly1397=) rs1596276580
NM_000057.4(BLM):c.4199C>T (p.Ala1400Val)
NM_000057.4(BLM):c.4201C>G (p.Pro1401Ala)
NM_000057.4(BLM):c.4202C>T (p.Pro1401Leu)
NM_000057.4(BLM):c.4207A>T (p.Lys1403Ter)
NM_000057.4(BLM):c.4209G>A (p.Lys1403=) rs1254277623
NM_000057.4(BLM):c.4209G>T (p.Lys1403Asn)
NM_000057.4(BLM):c.4210C>G (p.Pro1404Ala)
NM_000057.4(BLM):c.4210C>T (p.Pro1404Ser) rs1567069054
NM_000057.4(BLM):c.4211C>T (p.Pro1404Leu)
NM_000057.4(BLM):c.4212T>C (p.Pro1404=)
NM_000057.4(BLM):c.4213A>G (p.Ile1405Val)
NM_000057.4(BLM):c.4214T>C (p.Ile1405Thr) rs763323767
NM_000057.4(BLM):c.4215A>C (p.Ile1405=)
NM_000057.4(BLM):c.4215A>T (p.Ile1405=) rs1596276635
NM_000057.4(BLM):c.4220G>C (p.Arg1407Thr) rs557057587
NM_000057.4(BLM):c.4222C>A (p.Pro1408Thr)
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.4226T>G (p.Phe1409Cys)
NM_000057.4(BLM):c.4228C>T (p.Leu1410Phe) rs1897532582
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.4235C>G (p.Pro1412Arg)
NM_000057.4(BLM):c.4237del (p.Ser1413fs) rs1454179023
NM_000057.4(BLM):c.4241A>G (p.Tyr1414Cys)
NM_000057.4(BLM):c.4242T>C (p.Tyr1414=) rs2151202466
NM_000057.4(BLM):c.4243G>A (p.Ala1415Thr)
NM_000057.4(BLM):c.4247T>G (p.Phe1416Cys)
NM_000057.4(BLM):c.424A>C (p.Ser142Arg)
NM_000057.4(BLM):c.4251A>G (p.Ser1417=) rs886051553
NM_000057.4(BLM):c.4252T>A (p.Ter1418Lys) rs1555425441
NM_000057.4(BLM):c.4253A>G (p.Ter1418=)
NM_000057.4(BLM):c.428C>A (p.Ser143Tyr) rs1488217859
NM_000057.4(BLM):c.431C>T (p.Ser144Leu) rs1596218439
NM_000057.4(BLM):c.434C>A (p.Pro145Gln) rs1895616094
NM_000057.4(BLM):c.436G>T (p.Asp146Tyr)
NM_000057.4(BLM):c.437A>G (p.Asp146Gly)
NM_000057.4(BLM):c.43C>A (p.Arg15Ser) rs148545569
NM_000057.4(BLM):c.440C>A (p.Ser147Tyr)
NM_000057.4(BLM):c.444A>G (p.Leu148=)
NM_000057.4(BLM):c.445A>G (p.Ser149Gly)
NM_000057.4(BLM):c.446G>A (p.Ser149Asn)
NM_000057.4(BLM):c.447del (p.Ser149fs)
NM_000057.4(BLM):c.448A>G (p.Thr150Ala) rs1567035400
NM_000057.4(BLM):c.451A>C (p.Ile151Leu)
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.457G>T (p.Asp153Tyr)
NM_000057.4(BLM):c.459T>C (p.Asp153=) rs779259379
NM_000057.4(BLM):c.460T>C (p.Trp154Arg) rs1226287991
NM_000057.4(BLM):c.461G>A (p.Trp154Ter)
NM_000057.4(BLM):c.463G>T (p.Asp155Tyr) rs2151147403
NM_000057.4(BLM):c.466G>T (p.Asp156Tyr)
NM_000057.4(BLM):c.467A>T (p.Asp156Val)
NM_000057.4(BLM):c.46C>T (p.His16Tyr)
NM_000057.4(BLM):c.470T>G (p.Met157Arg) rs773103759
NM_000057.4(BLM):c.471G>A (p.Met157Ile)
NM_000057.4(BLM):c.473A>G (p.Asp158Gly)
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.481G>A (p.Asp161Asn)
NM_000057.4(BLM):c.481G>C (p.Asp161His)
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.489T>C (p.Ser163=) rs781044650
NM_000057.4(BLM):c.48C>T (p.His16=) rs757172775
NM_000057.4(BLM):c.490G>C (p.Glu164Gln) rs1052258023
NM_000057.4(BLM):c.491A>G (p.Glu164Gly)
NM_000057.4(BLM):c.494C>G (p.Thr165Ser)
NM_000057.4(BLM):c.494C>T (p.Thr165Ile)
NM_000057.4(BLM):c.497C>T (p.Ser166Leu) rs896357448
NM_000057.4(BLM):c.4G>T (p.Ala2Ser) rs199769364
NM_000057.4(BLM):c.504A>T (p.Ser168=) rs1596218655
NM_000057.4(BLM):c.506T>A (p.Phe169Tyr) rs1013299710
NM_000057.4(BLM):c.506T>C (p.Phe169Ser)
NM_000057.4(BLM):c.507T>C (p.Phe169=) rs1596218665
NM_000057.4(BLM):c.511dup (p.Thr171fs)
NM_000057.4(BLM):c.512C>A (p.Thr171Lys)
NM_000057.4(BLM):c.514C>G (p.Pro172Ala) rs1163233988
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>T (p.Pro173Leu)
NM_000057.4(BLM):c.519C>T (p.Pro173=)
NM_000057.4(BLM):c.521A>G (p.Gln174Arg) rs1895622909
NM_000057.4(BLM):c.529T>G (p.Phe177Val)
NM_000057.4(BLM):c.531T>A (p.Phe177Leu)
NM_000057.4(BLM):c.538G>A (p.Val180Ile)
NM_000057.4(BLM):c.541A>C (p.Ser181Arg)
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.544A>G (p.Thr182Ala) rs1060500643
NM_000057.4(BLM):c.545C>T (p.Thr182Ile) rs749838731
NM_000057.4(BLM):c.548C>T (p.Ala183Val)
NM_000057.4(BLM):c.54C>G (p.Ala18=)
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.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.565G>A (p.Gly189Ser) rs1180631656
NM_000057.4(BLM):c.566G>T (p.Gly189Val)
NM_000057.4(BLM):c.568A>C (p.Lys190Gln)
NM_000057.4(BLM):c.569A>C (p.Lys190Thr)
NM_000057.4(BLM):c.570G>C (p.Lys190Asn)
NM_000057.4(BLM):c.571A>G (p.Arg191Gly)
NM_000057.4(BLM):c.572_573del (p.Arg191fs) rs2151147628
NM_000057.4(BLM):c.57A>G (p.Arg19=)
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.586G>T (p.Ala196Ser)
NM_000057.4(BLM):c.587C>T (p.Ala196Val)
NM_000057.4(BLM):c.588A>T (p.Ala196=)
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.599C>A (p.Thr200Lys)
NM_000057.4(BLM):c.59C>T (p.Thr20Ile)
NM_000057.4(BLM):c.5C>A (p.Ala2Asp)
NM_000057.4(BLM):c.602C>T (p.Thr201Ile)
NM_000057.4(BLM):c.604A>G (p.Asn202Asp) rs587779894
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.60A>C (p.Thr20=)
NM_000057.4(BLM):c.60A>T (p.Thr20=) rs1596215695
NM_000057.4(BLM):c.610G>A (p.Val204Ile)
NM_000057.4(BLM):c.610G>T (p.Val204Leu)
NM_000057.4(BLM):c.612A>G (p.Val204=) rs2151147738
NM_000057.4(BLM):c.612A>T (p.Val204=)
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.61C>G (p.Leu21Val) rs1596215700
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.626C>T (p.Pro209Leu) rs1596218994
NM_000057.4(BLM):c.630A>G (p.Pro210=)
NM_000057.4(BLM):c.631C>G (p.Pro211Ala)
NM_000057.4(BLM):c.633CTC[1] (p.Ser213del) rs760096957
NM_000057.4(BLM):c.636C>G (p.Ser212=)
NM_000057.4(BLM):c.636C>T (p.Ser212=)
NM_000057.4(BLM):c.637T>C (p.Ser213Pro)
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.651A>G (p.Gln217=)
NM_000057.4(BLM):c.652A>G (p.Ile218Val)
NM_000057.4(BLM):c.654A>G (p.Ile218Met)
NM_000057.4(BLM):c.655G>C (p.Asp219His) rs190228320
NM_000057.4(BLM):c.656A>T (p.Asp219Val)
NM_000057.4(BLM):c.658T>C (p.Leu220=)
NM_000057.4(BLM):c.658T>G (p.Leu220Val)
NM_000057.4(BLM):c.661A>T (p.Thr221Ser) rs1895631812
NM_000057.4(BLM):c.662C>G (p.Thr221Ser)
NM_000057.4(BLM):c.66T>C (p.Asn22=)
NM_000057.4(BLM):c.672G>A (p.Gln224=) rs1596219135
NM_000057.4(BLM):c.673_675del (p.Lys225del)
NM_000057.4(BLM):c.676G>T (p.Asp226Tyr) rs2151147916
NM_000057.4(BLM):c.682T>C (p.Ser228Pro)
NM_000057.4(BLM):c.686A>G (p.Glu229Gly)
NM_000057.4(BLM):c.687A>C (p.Glu229Asp)
NM_000057.4(BLM):c.691T>C (p.Leu231=)
NM_000057.4(BLM):c.695G>A (p.Ser232Asn)
NM_000057.4(BLM):c.697A>G (p.Ser233Gly)
NM_000057.4(BLM):c.699C>T (p.Ser233=) rs200125311
NM_000057.4(BLM):c.700_713del (p.Asp234fs) rs1567035745
NM_000057.4(BLM):c.701A>G (p.Asp234Gly)
NM_000057.4(BLM):c.703G>A (p.Val235Met) rs765696829
NM_000057.4(BLM):c.704T>C (p.Val235Ala)
NM_000057.4(BLM):c.709del (p.Cys237fs) rs1217879599
NM_000057.4(BLM):c.710G>T (p.Cys237Phe)
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>T (p.Asp239Val) rs751699247
NM_000057.4(BLM):c.717T>C (p.Asp239=)
NM_000057.4(BLM):c.717T>G (p.Asp239Glu)
NM_000057.4(BLM):c.719A>T (p.Asp240Val) rs757324067
NM_000057.4(BLM):c.722G>C (p.Gly241Ala)
NM_000057.4(BLM):c.722del (p.Gly241fs)
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.733G>A (p.Glu245Lys) rs772711706
NM_000057.4(BLM):c.738G>A (p.Val246=) rs2151148091
NM_000057.4(BLM):c.740A>G (p.His247Arg)
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.74T>C (p.Leu25Ser) rs1895534883
NM_000057.4(BLM):c.751G>T (p.Asp251Tyr)
NM_000057.4(BLM):c.752A>T (p.Asp251Val) rs1555418456
NM_000057.4(BLM):c.753T>A (p.Asp251Glu)
NM_000057.4(BLM):c.753T>G (p.Asp251Glu)
NM_000057.4(BLM):c.754G>C (p.Ala252Pro)
NM_000057.4(BLM):c.756T>G (p.Ala252=)
NM_000057.4(BLM):c.757C>G (p.Gln253Glu)
NM_000057.4(BLM):c.75A>C (p.Leu25Phe)
NM_000057.4(BLM):c.75A>G (p.Leu25=) rs1276887266
NM_000057.4(BLM):c.760G>A (p.Glu254Lys)
NM_000057.4(BLM):c.761A>G (p.Glu254Gly)
NM_000057.4(BLM):c.764G>A (p.Ser255Asn)
NM_000057.4(BLM):c.765T>C (p.Ser255=)
NM_000057.4(BLM):c.769T>C (p.Ser257Pro)
NM_000057.4(BLM):c.770C>T (p.Ser257Phe)
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.777A>G (p.Lys259=)
NM_000057.4(BLM):c.778A>T (p.Thr260Ser)
NM_000057.4(BLM):c.77G>A (p.Ser26Asn)
NM_000057.4(BLM):c.786G>A (p.Leu262=)
NM_000057.4(BLM):c.789A>C (p.Glu263Asp)
NM_000057.4(BLM):c.794A>G (p.Glu265Gly) rs907073579
NM_000057.4(BLM):c.799+1G>T rs1895641581
NM_000057.4(BLM):c.799+4_799+5delinsCA rs1895641733
NM_000057.4(BLM):c.799+5C>A
NM_000057.4(BLM):c.799G>A (p.Asp267Asn)
NM_000057.4(BLM):c.79C>T (p.Leu27Phe)
NM_000057.4(BLM):c.802A>G (p.Asn268Asp)
NM_000057.4(BLM):c.806G>T (p.Ser269Ile)
NM_000057.4(BLM):c.810A>G (p.Glu270=) rs1596220978
NM_000057.4(BLM):c.813G>C (p.Lys271Asn)
NM_000057.4(BLM):c.813GAA[1] (p.Lys272_Lys273del)
NM_000057.4(BLM):c.813GAA[2] (p.Lys273del) rs587779895
NM_000057.4(BLM):c.814A>C (p.Lys272Gln)
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.825G>A (p.Leu275=)
NM_000057.4(BLM):c.825G>C (p.Leu275Phe)
NM_000057.4(BLM):c.826G>T (p.Glu276Ter)
NM_000057.4(BLM):c.829G>T (p.Glu277Ter) rs1596221020
NM_000057.4(BLM):c.834T>C (p.Ala278=)
NM_000057.4(BLM):c.837A>G (p.Glu279=) rs756158096
NM_000057.4(BLM):c.837A>T (p.Glu279Asp)
NM_000057.4(BLM):c.839_888del (p.Glu279_Leu280insTer) rs1567036579
NM_000057.4(BLM):c.83C>A (p.Ser28Ter)
NM_000057.4(BLM):c.83C>G (p.Ser28Ter) rs2151145090
NM_000057.4(BLM):c.841C>A (p.His281Asn)
NM_000057.4(BLM):c.842A>G (p.His281Arg) rs202042636
NM_000057.4(BLM):c.84A>C (p.Ser28=)
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.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.857T>G (p.Val286Gly)
NM_000057.4(BLM):c.859C>G (p.Pro287Ala)
NM_000057.4(BLM):c.861A>G (p.Pro287=) rs1555418666
NM_000057.4(BLM):c.862T>C (p.Cys288Arg)
NM_000057.4(BLM):c.863G>A (p.Cys288Tyr)
NM_000057.4(BLM):c.863G>C (p.Cys288Ser) rs1260150929
NM_000057.4(BLM):c.865A>G (p.Ile289Val) rs1895693953
NM_000057.4(BLM):c.867T>A (p.Ile289=)
NM_000057.4(BLM):c.872T>C (p.Phe291Ser)
NM_000057.4(BLM):c.873T>C (p.Phe291=) rs1006578287
NM_000057.4(BLM):c.874G>A (p.Asp292Asn)
NM_000057.4(BLM):c.880G>A (p.Asp294Asn) rs1596221148
NM_000057.4(BLM):c.880G>T (p.Asp294Tyr)
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.886T>G (p.Tyr296Asp) rs1596221177
NM_000057.4(BLM):c.887A>G (p.Tyr296Cys) rs775005766
NM_000057.4(BLM):c.887A>T (p.Tyr296Phe) rs775005766
NM_000057.4(BLM):c.88C>A (p.Pro30Thr)
NM_000057.4(BLM):c.88C>G (p.Pro30Ala)
NM_000057.4(BLM):c.895G>A (p.Asp299Asn)
NM_000057.4(BLM):c.899T>C (p.Phe300Ser)
NM_000057.4(BLM):c.901G>T (p.Val301Phe)
NM_000057.4(BLM):c.904C>T (p.Pro302Ser)
NM_000057.4(BLM):c.905C>T (p.Pro302Leu) rs1895696337
NM_000057.4(BLM):c.909T>G (p.Pro303=)
NM_000057.4(BLM):c.90A>G (p.Pro30=) rs2151145112
NM_000057.4(BLM):c.90_98+4del
NM_000057.4(BLM):c.910T>G (p.Ser304Ala) rs2151149729
NM_000057.4(BLM):c.910del (p.Ser304fs)
NM_000057.4(BLM):c.913C>T (p.Pro305Ser) rs1895696721
NM_000057.4(BLM):c.915A>G (p.Pro305=)
NM_000057.4(BLM):c.919G>A (p.Glu307Lys)
NM_000057.4(BLM):c.922A>G (p.Ile308Val) rs1596221274
NM_000057.4(BLM):c.922ATT[1] (p.Ile309del)
NM_000057.4(BLM):c.924T>C (p.Ile308=)
NM_000057.4(BLM):c.924T>G (p.Ile308Met)
NM_000057.4(BLM):c.925A>C (p.Ile309Leu)
NM_000057.4(BLM):c.925A>G (p.Ile309Val)
NM_000057.4(BLM):c.929C>T (p.Ser310Phe)
NM_000057.4(BLM):c.930T>C (p.Ser310=) rs1471248156
NM_000057.4(BLM):c.931G>A (p.Ala311Thr)
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.934T>C (p.Ser312Pro)
NM_000057.4(BLM):c.936T>A (p.Ser312=)
NM_000057.4(BLM):c.936T>C (p.Ser312=)
NM_000057.4(BLM):c.942C>G (p.Ser314=)
NM_000057.4(BLM):c.942C>T (p.Ser314=)
NM_000057.4(BLM):c.942del (p.Ser315fs) rs1555418701
NM_000057.4(BLM):c.945T>C (p.Ser315=) rs2151149787
NM_000057.4(BLM):c.950A>G (p.Lys317Arg)
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.956T>C (p.Leu319Pro)
NM_000057.4(BLM):c.959G>C (p.Ser320Thr) rs757112333
NM_000057.4(BLM):c.959G>T (p.Ser320Ile)
NM_000057.4(BLM):c.95T>A (p.Phe32Tyr)
NM_000057.4(BLM):c.960-1G>T rs1596223715
NM_000057.4(BLM):c.960-3C>T rs878962653
NM_000057.4(BLM):c.960-4G>A rs1555418976
NM_000057.4(BLM):c.962C>T (p.Thr321Met)
NM_000057.4(BLM):c.96T>C (p.Phe32=) rs2151145118
NM_000057.4(BLM):c.972C>T (p.Asp324=) rs769094708
NM_000057.4(BLM):c.973C>A (p.Leu325Ile)
NM_000057.4(BLM):c.975T>C (p.Leu325=)
NM_000057.4(BLM):c.976G>A (p.Asp326Asn) rs1013220474
NM_000057.4(BLM):c.978C>A (p.Asp326Glu)
NM_000057.4(BLM):c.978C>T (p.Asp326=)
NM_000057.4(BLM):c.98+1G>A rs750293380
NM_000057.4(BLM):c.98+1G>T rs750293380
NM_000057.4(BLM):c.98+2dup rs1555418016
NM_000057.4(BLM):c.98+3_98+6del rs1555418015
NM_000057.4(BLM):c.980C>T (p.Thr327Ile)
NM_000057.4(BLM):c.982T>G (p.Ser328Ala) rs2151152087
NM_000057.4(BLM):c.984del (p.Asp329fs) rs2151152104
NM_000057.4(BLM):c.985G>C (p.Asp329His) rs1895774818
NM_000057.4(BLM):c.987C>T (p.Asp329=)
NM_000057.4(BLM):c.99-1G>A
NM_000057.4(BLM):c.99-8_112del rs2151146678
NM_000057.4(BLM):c.99-9A>T rs1419730289
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.994G>C (p.Glu332Gln) rs1596223780
NM_000057.4(BLM):c.995A>C (p.Glu332Ala)
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

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