ClinVar Miner

List of variants in gene BLM reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1944
Download table as spreadsheet
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.419A>G (p.Glu140Gly) rs35886055 0.00958
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.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.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.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.1117A>G (p.Ile373Val) rs766212032 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.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.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.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.2250_2251insAAAT (p.Leu751fs) rs786204471 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.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.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.2824-2A>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.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.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.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.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.803A>G (p.Asn268Ser) rs763432949 0.00001
NM_000057.4(BLM):c.805A>G (p.Ser269Gly) rs141411463 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.1008C>T (p.Ser336=) rs1490955099
NM_000057.4(BLM):c.1011A>G (p.Thr337=)
NM_000057.4(BLM):c.1015A>G (p.Lys339Glu) rs1596223833
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.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.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.1088C>T (p.Ala363Val) rs1567040460
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter) rs1567040469
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.1118T>A (p.Ile373Asn) rs1060500630
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.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.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.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.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.1190G>A (p.Gly397Glu) rs1596228978
NM_000057.4(BLM):c.1191G>A (p.Gly397=) rs780393464
NM_000057.4(BLM):c.1195G>A (p.Glu399Lys) rs538728271
NM_000057.4(BLM):c.1198C>G (p.Leu400Val)
NM_000057.4(BLM):c.1201C>T (p.Leu401Phe) rs151150267
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.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.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.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.1295C>T (p.Pro432Leu)
NM_000057.4(BLM):c.1296T>A (p.Pro432=)
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.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>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.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.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>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.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.1404T>C (p.Cys468=) rs1236929438
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.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.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.146T>C (p.Val49Ala) rs1895601341
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.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.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.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.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.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.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.1599G>A (p.Gln533=) rs2151158575
NM_000057.4(BLM):c.1606C>A (p.His536Asn)
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.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>G (p.Thr547=)
NM_000057.4(BLM):c.1645C>A (p.Pro549Thr)
NM_000057.4(BLM):c.1647T>C (p.Pro549=)
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.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>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.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.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.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.1725A>C (p.Ala575=)
NM_000057.4(BLM):c.1726G>A (p.Ala576Thr)
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.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.1770T>C (p.Gly590=)
NM_000057.4(BLM):c.1771C>G (p.Arg591Gly)
NM_000057.4(BLM):c.1777A>C (p.Ile593Leu)
NM_000057.4(BLM):c.1777A>G (p.Ile593Val)
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.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.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.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.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.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.193G>C (p.Val65Leu)
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.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.201T>G (p.Val67=)
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.2037A>G (p.Ala679=) rs1555420173
NM_000057.4(BLM):c.2039T>C (p.Leu680Pro)
NM_000057.4(BLM):c.2046T>A (p.Gly682=)
NM_000057.4(BLM):c.204C>A (p.Thr68=) rs199927688
NM_000057.4(BLM):c.204C>G (p.Thr68=) rs199927688
NM_000057.4(BLM):c.2050G>A (p.Asp684Asn) rs2151160786
NM_000057.4(BLM):c.2054G>A (p.Cys685Tyr) rs1896032110
NM_000057.4(BLM):c.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.2096A>G (p.Tyr699Cys)
NM_000057.4(BLM):c.20A>G (p.Asn7Ser)
NM_000057.4(BLM):c.2105C>T (p.Pro702Leu)
NM_000057.4(BLM):c.210C>T (p.Asp70=)
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.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.2162T>A (p.Val721Glu)
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.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>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.2221A>C (p.Lys741Gln)
NM_000057.4(BLM):c.2223G>T (p.Lys741Asn)
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.223G>C (p.Glu75Gln) rs1205667946
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.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.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.2329A>G (p.Ile777Val) rs764097842
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.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.2362C>T (p.Leu788Phe) rs149754073
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.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.2380A>T (p.Ile794Phe)
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.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.241A>G (p.Thr81Ala) rs1060500637
NM_000057.4(BLM):c.2421T>C (p.Phe807=) rs2151166092
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.2442G>T (p.Met814Ile) rs1896237351
NM_000057.4(BLM):c.2443A>C (p.Asn815His)
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.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.2503C>T (p.Pro835Ser) rs2151166278
NM_000057.4(BLM):c.2506A>G (p.Arg836Gly) rs577806633
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.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.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.2556G>T (p.Val852=) rs1896650229
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.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.262G>C (p.Asp88His) rs752379441
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.2667T>C (p.Asp889=)
NM_000057.4(BLM):c.2672G>A (p.Gly891Glu) rs763471784
NM_000057.4(BLM):c.2676A>G (p.Ile892Met)
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.2709C>G (p.Thr903=) rs1555422522
NM_000057.4(BLM):c.2709C>T (p.Thr903=) rs1555422522
NM_000057.4(BLM):c.2711T>C (p.Met904Thr)
NM_000057.4(BLM):c.2713G>A (p.Ala905Thr) rs1596252085
NM_000057.4(BLM):c.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.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>T (p.His919Tyr) rs1284859576
NM_000057.4(BLM):c.2762G>C (p.Gly921Ala)
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.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.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.2824-5A>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.2850A>G (p.Gly950=)
NM_000057.4(BLM):c.2851_2857del (p.Met951fs) rs1309932713
NM_000057.4(BLM):c.2853G>T (p.Met951Ile) rs1896881384
NM_000057.4(BLM):c.2858T>C (p.Ile953Thr) rs587778102
NM_000057.4(BLM):c.2860G>A (p.Asp954Asn)
NM_000057.4(BLM):c.2862C>A (p.Asp954Glu)
NM_000057.4(BLM):c.2862C>T (p.Asp954=) rs907953613
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.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.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>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>G (p.Ala980=) rs1596257223
NM_000057.4(BLM):c.2945G>A (p.Arg982Lys) rs1281589498
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.2965T>G (p.Cys989Gly)
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.2992G>A (p.Val998Met)
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>T (p.Arg1000Ser) rs1395403568
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.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.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.3069G>A (p.Leu1023=)
NM_000057.4(BLM):c.3069G>T (p.Leu1023Phe)
NM_000057.4(BLM):c.3088T>C (p.Cys1030Arg)
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.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.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.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.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.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.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.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.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.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.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.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>G (p.Asn1099Lys) rs1596263307
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.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.3354C>A (p.Phe1118Leu) rs1351493073
NM_000057.4(BLM):c.3355T>C (p.Leu1119=) rs201847046
NM_000057.4(BLM):c.3358+5G>C rs2151190518
NM_000057.4(BLM):c.3358G>C (p.Gly1120Arg) rs139773499
NM_000057.4(BLM):c.3359-4_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.3377T>G (p.Ile1126Ser)
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.3393T>G (p.Phe1131Leu)
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.3445_3450delinsT (p.Leu1149fs)
NM_000057.4(BLM):c.3447G>A (p.Leu1149=) rs1195487968
NM_000057.4(BLM):c.344C>G (p.Pro115Arg)
NM_000057.4(BLM):c.3456C>A (p.Asp1152Glu) rs1897216087
NM_000057.4(BLM):c.3467A>G (p.Asp1156Gly)
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs) rs367543033
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.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.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.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.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.3558+2T>C rs1897222054
NM_000057.4(BLM):c.3561A>C (p.Val1187=)
NM_000057.4(BLM):c.3563A>C (p.Asp1188Ala)
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.357A>G (p.Val119=)
NM_000057.4(BLM):c.3586A>G (p.Ser1196Gly)
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.3612A>T (p.Leu1204Phe)
NM_000057.4(BLM):c.3614T>A (p.Val1205Glu)
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.3633G>A (p.Arg1211=)
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.3659G>A (p.Gly1220Glu)
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.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.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.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.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.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.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.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.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.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.3938A>C (p.Glu1313Ala) rs754033839
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.3948C>A (p.Asp1316Glu) rs375896520
NM_000057.4(BLM):c.3948C>T (p.Asp1316=) rs375896520
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.398A>G (p.Asp133Gly) rs1895614433
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.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.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>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.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>T (p.Gly1360Val)
NM_000057.4(BLM):c.407T>G (p.Leu136Arg)
NM_000057.4(BLM):c.4080G>A (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.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.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.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.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.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.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>T (p.Ile1405=) rs1596276635
NM_000057.4(BLM):c.4220G>C (p.Arg1407Thr) rs557057587
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.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.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.455A>G (p.Asn152Ser) rs749633106
NM_000057.4(BLM):c.456T>C (p.Asn152=) rs1316621251
NM_000057.4(BLM):c.459T>C (p.Asp153=) rs779259379
NM_000057.4(BLM):c.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.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>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.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.517C>A (p.Pro173Thr) rs1458936595
NM_000057.4(BLM):c.517C>T (p.Pro173Ser)
NM_000057.4(BLM):c.521A>G (p.Gln174Arg) rs1895622909
NM_000057.4(BLM):c.529T>G (p.Phe177Val)
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.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>G (p.Lys187Glu) rs1895625606
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.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.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.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.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.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.633CTC[1] (p.Ser213del) rs760096957
NM_000057.4(BLM):c.636C>G (p.Ser212=)
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.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.686A>G (p.Glu229Gly)
NM_000057.4(BLM):c.687A>C (p.Glu229Asp)
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.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.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.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>G (p.Asp251Glu)
NM_000057.4(BLM):c.754G>C (p.Ala252Pro)
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.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.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.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.810A>G (p.Glu270=) rs1596220978
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.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.829G>T (p.Glu277Ter) rs1596221020
NM_000057.4(BLM):c.834T>C (p.Ala278=)
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>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.856G>A (p.Val286Ile)
NM_000057.4(BLM):c.856G>T (p.Val286Phe) rs758301305
NM_000057.4(BLM):c.857T>C (p.Val286Ala)
NM_000057.4(BLM):c.859C>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.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.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.910T>G (p.Ser304Ala) rs2151149729
NM_000057.4(BLM):c.913C>T (p.Pro305Ser) rs1895696721
NM_000057.4(BLM):c.915A>G (p.Pro305=)
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.930T>C (p.Ser310=) rs1471248156
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.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.959G>C (p.Ser320Thr) rs757112333
NM_000057.4(BLM):c.959G>T (p.Ser320Ile)
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.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.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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.