ClinVar Miner

List of variants in gene PHKB

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Gene type:
ClinVar version:
Total variants: 1040
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HGVS dbSNP gnomAD frequency
NM_000293.3(PHKB):c.775-6G>C rs56268318 0.12475
NM_000293.3(PHKB):c.2337-80T>A rs1011532 0.11583
NM_000293.3(PHKB):c.2197-171G>A rs8054582 0.11187
NM_000293.3(PHKB):c.1069-160G>T rs721649 0.10837
NM_000293.3(PHKB):c.2196+91G>T rs7195074 0.10240
NM_000293.3(PHKB):c.2896-236del rs148191408 0.10202
NM_000293.3(PHKB):c.1363+97T>C rs12445959 0.08423
NM_000293.3(PHKB):c.2309A>G (p.Tyr770Cys) rs16945474 0.06996
NM_000293.3(PHKB):c.594+85G>A rs78297758 0.04998
NM_000293.3(PHKB):c.*1001del rs775113534 0.02941
NM_000293.3(PHKB):c.2766-257G>C rs930781 0.01669
NM_000293.3(PHKB):c.594+24T>C rs13336222 0.01368
NM_000293.3(PHKB):c.318T>C (p.Asp106=) rs17738933 0.01324
NM_000293.3(PHKB):c.*2086A>G rs9940720 0.01292
NM_000293.3(PHKB):c.1363+13G>T rs117536391 0.01189
NM_000293.3(PHKB):c.*1001G>A rs868394484 0.00997
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.00994
NM_000293.3(PHKB):c.*641C>A rs117861728 0.00962
NM_000293.3(PHKB):c.870+17T>C rs75918606 0.00923
NM_000293.3(PHKB):c.1069-22A>C rs138958556 0.00855
NM_000293.3(PHKB):c.2336+106A>C rs138536671 0.00839
NM_000293.3(PHKB):c.1459-125C>T rs112594584 0.00823
NM_000293.3(PHKB):c.2244C>G (p.Leu748=) rs34717357 0.00789
NM_000293.3(PHKB):c.513+104T>G rs140069922 0.00769
NM_000293.3(PHKB):c.871-58G>A rs76691519 0.00766
NM_000293.3(PHKB):c.3121C>T (p.Arg1041Trp) rs12918964 0.00765
NM_000293.3(PHKB):c.1364-30C>T rs60269785 0.00723
NM_000293.3(PHKB):c.406-90T>C rs79014828 0.00717
NM_000293.3(PHKB):c.*740C>T rs184521822 0.00652
NM_000293.3(PHKB):c.2459A>T (p.Glu820Val) rs9934849 0.00453
NM_000293.3(PHKB):c.*226A>G rs9935072 0.00451
NM_000293.3(PHKB):c.1126+14T>G rs28691569 0.00450
NM_000293.3(PHKB):c.*915G>A rs151262633 0.00411
NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys) rs151155518 0.00406
NM_000293.3(PHKB):c.*989A>T rs530003571 0.00366
NM_000293.3(PHKB):c.1127-14A>G rs185628131 0.00246
NM_000293.3(PHKB):c.*590A>G rs143720939 0.00219
NM_000293.3(PHKB):c.1446G>A (p.Arg482=) rs149812232 0.00206
NM_000293.3(PHKB):c.518A>G (p.Asn173Ser) rs139738333 0.00205
NM_000293.3(PHKB):c.400G>A (p.Asp134Asn) rs144486825 0.00176
NM_000293.3(PHKB):c.574A>G (p.Ile192Val) rs117218785 0.00165
NM_000293.3(PHKB):c.1574C>A (p.Pro525His) rs79509460 0.00152
NM_000293.3(PHKB):c.1459-9G>T rs201995780 0.00117
NM_000293.3(PHKB):c.1458+16A>G rs371140883 0.00088
NM_000293.3(PHKB):c.2532G>A (p.Glu844=) rs140117779 0.00088
NM_000293.3(PHKB):c.*2075G>A rs189124531 0.00087
NM_000293.3(PHKB):c.2075A>G (p.Lys692Arg) rs142381554 0.00084
NM_000293.3(PHKB):c.2858C>T (p.Pro953Leu) rs200836150 0.00084
NM_000293.3(PHKB):c.2284G>A (p.Val762Ile) rs56010117 0.00080
NM_000293.3(PHKB):c.1746A>G (p.Leu582=) rs111970242 0.00066
NM_000293.3(PHKB):c.3267G>A (p.Pro1089=) rs146134171 0.00061
NM_000293.3(PHKB):c.436A>G (p.Thr146Ala) rs146558295 0.00051
NM_000293.3(PHKB):c.1803G>A (p.Ala601=) rs35690654 0.00048
NM_000293.3(PHKB):c.2195A>G (p.Asn732Ser) rs201360702 0.00045
NM_000293.3(PHKB):c.2674G>A (p.Gly892Arg) rs149983469 0.00037
NM_000293.3(PHKB):c.*279C>T rs140112731 0.00035
NM_000293.3(PHKB):c.1286G>A (p.Arg429Gln) rs141379798 0.00034
NM_000293.3(PHKB):c.2197-17G>A rs376612892 0.00034
NM_000293.3(PHKB):c.3216G>A (p.Ala1072=) rs137869198 0.00034
NM_000293.3(PHKB):c.3145-25C>G rs144484726 0.00032
NM_000293.3(PHKB):c.1364-10T>C rs199899291 0.00029
NM_000293.3(PHKB):c.1631A>G (p.Asn544Ser) rs139383341 0.00029
NM_000293.3(PHKB):c.2433T>G (p.Thr811=) rs187940556 0.00029
NM_000293.3(PHKB):c.1797+8C>T rs77462273 0.00026
NM_000293.3(PHKB):c.718G>A (p.Gly240Ser) rs147426858 0.00026
NM_000293.3(PHKB):c.76+2537G>A rs145777693 0.00025
NM_000293.3(PHKB):c.2766-7G>A rs199719186 0.00024
NM_000293.3(PHKB):c.3144+17_3144+18insC rs1291880984 0.00024
NM_000293.3(PHKB):c.781T>G (p.Ser261Ala) rs137946010 0.00024
NM_000293.3(PHKB):c.2593C>G (p.Pro865Ala) rs142281844 0.00023
NM_000293.3(PHKB):c.710+12A>C rs542318460 0.00022
NM_000293.3(PHKB):c.*132G>A rs375856403 0.00019
NM_000293.3(PHKB):c.2629G>A (p.Gly877Arg) rs150902092 0.00019
NM_000293.3(PHKB):c.*323G>C rs886052024 0.00018
NM_000293.3(PHKB):c.1568T>C (p.Val523Ala) rs774398701 0.00018
NM_000293.3(PHKB):c.2766-8T>C rs186710481 0.00018
NM_000293.3(PHKB):c.1204+9G>T rs200832185 0.00017
NM_000293.3(PHKB):c.2445T>C (p.Phe815=) rs61494991 0.00017
NM_000293.3(PHKB):c.2540C>T (p.Ala847Val) rs374731360 0.00017
NM_000293.3(PHKB):c.1609-20T>C rs374125947 0.00015
NM_000293.3(PHKB):c.*991A>G rs951718946 0.00013
NM_000293.3(PHKB):c.2197-10A>T rs750018974 0.00013
NM_000293.3(PHKB):c.2985C>T (p.Tyr995=) rs142163694 0.00013
NM_000293.3(PHKB):c.1350C>T (p.Ile450=) rs199941695 0.00012
NM_000293.3(PHKB):c.1741G>A (p.Asp581Asn) rs202127217 0.00012
NM_000293.3(PHKB):c.*741G>A rs1041235488 0.00011
NM_000293.3(PHKB):c.1285C>T (p.Arg429Ter) rs563345848 0.00011
NM_000293.3(PHKB):c.1759A>C (p.Met587Leu) rs140636792 0.00011
NM_000293.3(PHKB):c.405+15T>C rs751461811 0.00011
NM_000293.3(PHKB):c.491A>G (p.Tyr164Cys) rs144211929 0.00011
NM_000293.3(PHKB):c.893C>T (p.Pro298Leu) rs558898797 0.00011
NM_000293.3(PHKB):c.*345C>T rs757393313 0.00010
NM_000293.3(PHKB):c.1409A>G (p.Tyr470Cys) rs771367256 0.00010
NM_000293.3(PHKB):c.714G>A (p.Ser238=) rs772326970 0.00010
NM_000293.3(PHKB):c.775-18T>C rs528339875 0.00010
NM_000293.3(PHKB):c.1307G>A (p.Arg436His) rs143602657 0.00009
NM_000293.3(PHKB):c.1378A>T (p.Ser460Cys) rs201217052 0.00009
NM_000293.3(PHKB):c.1798-20T>C rs758115079 0.00009
NM_000293.3(PHKB):c.2427+969C>T rs1131063 0.00009
NM_000293.3(PHKB):c.391C>T (p.Arg131Cys) rs202167409 0.00009
NM_000293.3(PHKB):c.*1783A>G rs886052032 0.00008
NM_000293.3(PHKB):c.2882A>T (p.Lys961Met) rs371541668 0.00008
NM_000293.3(PHKB):c.2895+13C>T rs201604618 0.00008
NM_000293.3(PHKB):c.321C>T (p.Asp107=) rs148782229 0.00008
NM_000293.3(PHKB):c.932T>C (p.Val311Ala) rs149685822 0.00008
NM_000293.3(PHKB):c.*1915A>G rs919228154 0.00007
NM_000293.3(PHKB):c.1090G>T (p.Glu364Ter) rs371296953 0.00007
NM_000293.3(PHKB):c.1127-2A>G rs535749057 0.00007
NM_000293.3(PHKB):c.1205-14T>G rs766907354 0.00007
NM_000293.3(PHKB):c.1205G>A (p.Gly402Glu) rs753006574 0.00007
NM_000293.3(PHKB):c.1459-5T>C rs375393609 0.00007
NM_000293.3(PHKB):c.2136G>A (p.Pro712=) rs200274360 0.00007
NM_000293.3(PHKB):c.2326C>T (p.Gln776Ter) rs149244943 0.00007
NM_000293.3(PHKB):c.430C>T (p.Arg144Cys) rs762531075 0.00007
NM_000293.3(PHKB):c.470C>T (p.Thr157Ile) rs141208535 0.00007
NM_000293.3(PHKB):c.*1839C>G rs981081630 0.00006
NM_000293.3(PHKB):c.*405G>T rs1597192442 0.00006
NM_000293.3(PHKB):c.*595G>A rs563945926 0.00006
NM_000293.3(PHKB):c.1114A>G (p.Met372Val) rs758968989 0.00006
NM_000293.3(PHKB):c.1257T>A (p.Tyr419Ter) rs121918021 0.00006
NM_000293.3(PHKB):c.1429C>T (p.Arg477Cys) rs773959240 0.00006
NM_000293.3(PHKB):c.1544T>C (p.Ile515Thr) rs141224055 0.00006
NM_000293.3(PHKB):c.1779G>T (p.Leu593=) rs752473353 0.00006
NM_000293.3(PHKB):c.445C>T (p.Leu149Phe) rs370363309 0.00006
NM_000293.3(PHKB):c.707C>T (p.Ser236Leu) rs201829990 0.00006
NM_000293.3(PHKB):c.*1709G>A rs1007478681 0.00005
NM_000293.3(PHKB):c.1319T>C (p.Leu440Pro) rs140509147 0.00005
NM_000293.3(PHKB):c.1599G>A (p.Glu533=) rs756341301 0.00005
NM_000293.3(PHKB):c.1730C>T (p.Pro577Leu) rs775984009 0.00005
NM_000293.3(PHKB):c.1972-7G>A rs765332910 0.00005
NM_000293.3(PHKB):c.2673C>T (p.Gly891=) rs201038140 0.00005
NM_000293.3(PHKB):c.306-15A>G rs372436374 0.00005
NM_000293.3(PHKB):c.308G>A (p.Arg103Gln) rs368975705 0.00005
NM_000293.3(PHKB):c.76+18G>A rs751843004 0.00005
NM_000293.3(PHKB):c.774+16C>T rs201911168 0.00005
NM_000293.3(PHKB):c.*148T>A rs368887864 0.00004
NM_000293.3(PHKB):c.1198A>G (p.Thr400Ala) rs372083810 0.00004
NM_000293.3(PHKB):c.1499T>C (p.Ile500Thr) rs147021608 0.00004
NM_000293.3(PHKB):c.1690A>G (p.Lys564Glu) rs375108693 0.00004
NM_000293.3(PHKB):c.1800T>C (p.Asn600=) rs757243505 0.00004
NM_000293.3(PHKB):c.1841G>A (p.Arg614His) rs140190371 0.00004
NM_000293.3(PHKB):c.1860C>T (p.Leu620=) rs377747820 0.00004
NM_000293.3(PHKB):c.2342C>T (p.Ala781Val) rs759094998 0.00004
NM_000293.3(PHKB):c.2427+965A>C rs761645932 0.00004
NM_000293.3(PHKB):c.2427+981G>A rs527426323 0.00004
NM_000293.3(PHKB):c.2626A>G (p.Ile876Val) rs545345880 0.00004
NM_000293.3(PHKB):c.2689T>C (p.Leu897=) rs369059693 0.00004
NM_000293.3(PHKB):c.2995G>A (p.Val999Ile) rs375389167 0.00004
NM_000293.3(PHKB):c.3134T>C (p.Ile1045Thr) rs200896827 0.00004
NM_000293.3(PHKB):c.3175C>T (p.Pro1059Ser) rs746809041 0.00004
NM_000293.3(PHKB):c.754T>C (p.Phe252Leu) rs373920188 0.00004
NM_000293.3(PHKB):c.76+20C>T rs201914873 0.00004
NM_000293.3(PHKB):c.76+2544C>T rs747588419 0.00004
NM_000293.3(PHKB):c.775-10C>G rs753672973 0.00004
NM_000293.3(PHKB):c.775-8C>G rs780221944 0.00004
NM_000293.3(PHKB):c.870+10T>A rs144932435 0.00004
NM_000293.3(PHKB):c.1031A>T (p.Asp344Val) rs375710008 0.00003
NM_000293.3(PHKB):c.1069-15T>C rs555804122 0.00003
NM_000293.3(PHKB):c.1153G>A (p.Val385Ile) rs981615352 0.00003
NM_000293.3(PHKB):c.1204+19G>T rs776766619 0.00003
NM_000293.3(PHKB):c.1351G>A (p.Ala451Thr) rs745821795 0.00003
NM_000293.3(PHKB):c.1364-14C>G rs999981428 0.00003
NM_000293.3(PHKB):c.1485T>C (p.Val495=) rs536930472 0.00003
NM_000293.3(PHKB):c.1692+20A>T rs748047799 0.00003
NM_000293.3(PHKB):c.1731G>A (p.Pro577=) rs201607512 0.00003
NM_000293.3(PHKB):c.1798-9G>C rs763761593 0.00003
NM_000293.3(PHKB):c.2281A>G (p.Thr761Ala) rs770030450 0.00003
NM_000293.3(PHKB):c.2329_2336+5del rs755100317 0.00003
NM_000293.3(PHKB):c.2343G>A (p.Ala781=) rs764952326 0.00003
NM_000293.3(PHKB):c.2352C>T (p.Tyr784=) rs570705767 0.00003
NM_000293.3(PHKB):c.2427+970G>A rs375970573 0.00003
NM_000293.3(PHKB):c.2428-4G>T rs371016106 0.00003
NM_000293.3(PHKB):c.2489T>G (p.Val830Gly) rs775618622 0.00003
NM_000293.3(PHKB):c.2541G>A (p.Ala847=) rs778551862 0.00003
NM_000293.3(PHKB):c.2581A>G (p.Ile861Val) rs781008493 0.00003
NM_000293.3(PHKB):c.2856G>A (p.Thr952=) rs191428598 0.00003
NM_000293.3(PHKB):c.2958G>A (p.Thr986=) rs748651257 0.00003
NM_000293.3(PHKB):c.3234G>A (p.Leu1078=) rs142484035 0.00003
NM_000293.3(PHKB):c.399C>T (p.Ala133=) rs140626718 0.00003
NM_000293.3(PHKB):c.447T>C (p.Leu149=) rs374963473 0.00003
NM_000293.3(PHKB):c.455T>C (p.Val152Ala) rs755124053 0.00003
NM_000293.3(PHKB):c.514-12T>C rs373800783 0.00003
NM_000293.3(PHKB):c.604A>G (p.Ile202Val) rs367667135 0.00003
NM_000293.3(PHKB):c.710+20G>A rs577519809 0.00003
NM_000293.3(PHKB):c.76+2542T>C rs780650043 0.00003
NM_000293.3(PHKB):c.783G>A (p.Ser261=) rs752605847 0.00003
NM_000293.3(PHKB):c.870+7C>T rs372819242 0.00003
NM_000293.3(PHKB):c.994C>T (p.Arg332Cys) rs767565970 0.00003
NM_000293.3(PHKB):c.1034C>G (p.Pro345Arg) rs1482549781 0.00002
NM_000293.3(PHKB):c.1120A>G (p.Ile374Val) rs1243574468 0.00002
NM_000293.3(PHKB):c.126T>C (p.Asn42=) rs1471608835 0.00002
NM_000293.3(PHKB):c.134T>A (p.Leu45His) rs762053276 0.00002
NM_000293.3(PHKB):c.1387G>C (p.Asp463His) rs150683838 0.00002
NM_000293.3(PHKB):c.1520A>G (p.Gln507Arg) rs138204583 0.00002
NM_000293.3(PHKB):c.1536A>G (p.Thr512=) rs143688069 0.00002
NM_000293.3(PHKB):c.1539T>C (p.Tyr513=) rs148188488 0.00002
NM_000293.3(PHKB):c.1546C>T (p.Gln516Ter) rs758004953 0.00002
NM_000293.3(PHKB):c.1615T>C (p.Leu539=) rs759986358 0.00002
NM_000293.3(PHKB):c.1693-3C>T rs372208366 0.00002
NM_000293.3(PHKB):c.1797+12A>G rs946768381 0.00002
NM_000293.3(PHKB):c.1797+13C>T rs369332476 0.00002
NM_000293.3(PHKB):c.1864C>T (p.Arg622Trp) rs543402649 0.00002
NM_000293.3(PHKB):c.1894A>G (p.Asn632Asp) rs530842640 0.00002
NM_000293.3(PHKB):c.1900A>G (p.Ile634Val) rs145723243 0.00002
NM_000293.3(PHKB):c.1964G>A (p.Arg655His) rs756158798 0.00002
NM_000293.3(PHKB):c.2086G>A (p.Val696Ile) rs1340771051 0.00002
NM_000293.3(PHKB):c.2106C>T (p.Thr702=) rs1248967430 0.00002
NM_000293.3(PHKB):c.2126G>A (p.Gly709Glu) rs745659494 0.00002
NM_000293.3(PHKB):c.2278+15C>G rs201402032 0.00002
NM_000293.3(PHKB):c.2278+16T>C rs1295692120 0.00002
NM_000293.3(PHKB):c.2336+19G>T rs758214785 0.00002
NM_000293.3(PHKB):c.2427+952C>A rs1381191668 0.00002
NM_000293.3(PHKB):c.2544C>T (p.Val848=) rs200981011 0.00002
NM_000293.3(PHKB):c.2588A>G (p.Asn863Ser) rs745805941 0.00002
NM_000293.3(PHKB):c.2667C>A (p.Ile889=) rs1043755350 0.00002
NM_000293.3(PHKB):c.2676A>G (p.Gly892=) rs756848227 0.00002
NM_000293.3(PHKB):c.2895+14A>G rs184632102 0.00002
NM_000293.3(PHKB):c.2896-1G>T rs764133797 0.00002
NM_000293.3(PHKB):c.2926G>T (p.Glu976Ter) rs199948078 0.00002
NM_000293.3(PHKB):c.2982G>A (p.Gln994=) rs775360915 0.00002
NM_000293.3(PHKB):c.3004-18A>G rs537397906 0.00002
NM_000293.3(PHKB):c.3042C>T (p.Pro1014=) rs149234185 0.00002
NM_000293.3(PHKB):c.3122G>A (p.Arg1041Gln) rs372327608 0.00002
NM_000293.3(PHKB):c.3124del (p.Arg1041_Leu1042insTer) rs756592483 0.00002
NM_000293.3(PHKB):c.3203A>G (p.Tyr1068Cys) rs374634942 0.00002
NM_000293.3(PHKB):c.3257A>G (p.Asn1086Ser) rs144657506 0.00002
NM_000293.3(PHKB):c.678A>G (p.Lys226=) rs762504730 0.00002
NM_000293.3(PHKB):c.733G>A (p.Ala245Thr) rs773845023 0.00002
NM_000293.3(PHKB):c.76+2575T>G rs762897048 0.00002
NM_000293.3(PHKB):c.914T>C (p.Phe305Ser) rs746454503 0.00002
NM_000293.3(PHKB):c.995G>A (p.Arg332His) rs201074312 0.00002
NM_000293.3(PHKB):c.*1105T>C rs1365256572 0.00001
NM_000293.3(PHKB):c.*221C>T rs1974213779 0.00001
NM_000293.3(PHKB):c.*349C>T rs886052025 0.00001
NM_000293.3(PHKB):c.1011G>T (p.Gly337=) rs756329469 0.00001
NM_000293.3(PHKB):c.1024T>C (p.Leu342=) rs1216145134 0.00001
NM_000293.3(PHKB):c.1069-3T>C rs775366763 0.00001
NM_000293.3(PHKB):c.1069-9C>G rs371095469 0.00001
NM_000293.3(PHKB):c.1071A>G (p.Leu357=) rs1028398680 0.00001
NM_000293.3(PHKB):c.1121T>C (p.Ile374Thr) rs78667243 0.00001
NM_000293.3(PHKB):c.1126+11T>C rs768236437 0.00001
NM_000293.3(PHKB):c.1126+8A>G rs550076079 0.00001
NM_000293.3(PHKB):c.1127-6T>A rs765621097 0.00001
NM_000293.3(PHKB):c.1127-7A>G rs1483119691 0.00001
NM_000293.3(PHKB):c.1147A>G (p.Lys383Glu) rs148556721 0.00001
NM_000293.3(PHKB):c.1204+11T>C rs746945504 0.00001
NM_000293.3(PHKB):c.1204+12T>G rs1972080009 0.00001
NM_000293.3(PHKB):c.1204+16T>A rs770811962 0.00001
NM_000293.3(PHKB):c.1204+1G>T rs1972079641 0.00001
NM_000293.3(PHKB):c.1204+7T>C rs777639922 0.00001
NM_000293.3(PHKB):c.1205-16T>G rs754488707 0.00001
NM_000293.3(PHKB):c.1205-4A>G rs1312431290 0.00001
NM_000293.3(PHKB):c.1205-8C>T rs752369996 0.00001
NM_000293.3(PHKB):c.1256A>G (p.Tyr419Cys) rs775802488 0.00001
NM_000293.3(PHKB):c.1274G>A (p.Gly425Asp) rs774768331 0.00001
NM_000293.3(PHKB):c.1326T>C (p.Leu442=) rs777344732 0.00001
NM_000293.3(PHKB):c.1364-11del rs2506450720 0.00001
NM_000293.3(PHKB):c.1364-5T>C rs1219610240 0.00001
NM_000293.3(PHKB):c.1374T>C (p.Leu458=) rs749314594 0.00001
NM_000293.3(PHKB):c.1376T>C (p.Ile459Thr) rs918762902 0.00001
NM_000293.3(PHKB):c.1389C>T (p.Asp463=) rs772380779 0.00001
NM_000293.3(PHKB):c.1405C>T (p.Arg469Cys) rs182398740 0.00001
NM_000293.3(PHKB):c.1406G>A (p.Arg469His) rs747429835 0.00001
NM_000293.3(PHKB):c.1434C>T (p.Asn478=) rs767260379 0.00001
NM_000293.3(PHKB):c.1458+3A>G rs776755499 0.00001
NM_000293.3(PHKB):c.1486C>T (p.His496Tyr) rs1973010526 0.00001
NM_000293.3(PHKB):c.1514+12A>T rs373744057 0.00001
NM_000293.3(PHKB):c.1514+18G>C rs760376574 0.00001
NM_000293.3(PHKB):c.1514+20G>T rs770776317 0.00001
NM_000293.3(PHKB):c.1515-8A>C rs780377699 0.00001
NM_000293.3(PHKB):c.1563A>G (p.Gln521=) rs775194158 0.00001
NM_000293.3(PHKB):c.1596G>A (p.Gln532=) rs1973024886 0.00001
NM_000293.3(PHKB):c.1608+13G>T rs754227684 0.00001
NM_000293.3(PHKB):c.1609-7C>A rs555263609 0.00001
NM_000293.3(PHKB):c.1616T>C (p.Leu539Ser) rs765796760 0.00001
NM_000293.3(PHKB):c.1643G>A (p.Gly548Glu) rs890608375 0.00001
NM_000293.3(PHKB):c.1649C>G (p.Ser550Cys) rs1973176726 0.00001
NM_000293.3(PHKB):c.1650T>A (p.Ser550=) rs1417803037 0.00001
NM_000293.3(PHKB):c.1669A>G (p.Ile557Val) rs1411474273 0.00001
NM_000293.3(PHKB):c.1670T>C (p.Ile557Thr) rs1973177438 0.00001
NM_000293.3(PHKB):c.1686A>G (p.Thr562=) rs1228980707 0.00001
NM_000293.3(PHKB):c.1693-20T>G rs753468262 0.00001
NM_000293.3(PHKB):c.1693-4A>C rs1470050570 0.00001
NM_000293.3(PHKB):c.1693-7C>T rs1183659385 0.00001
NM_000293.3(PHKB):c.1693-9C>T rs778675386 0.00001
NM_000293.3(PHKB):c.1699C>T (p.Arg567Cys) rs771991962 0.00001
NM_000293.3(PHKB):c.1716T>C (p.Thr572=) rs746052855 0.00001
NM_000293.3(PHKB):c.1726T>G (p.Tyr576Asp) rs1973188482 0.00001
NM_000293.3(PHKB):c.1740C>T (p.Phe580=) rs1279199570 0.00001
NM_000293.3(PHKB):c.1797+9G>A rs746001808 0.00001
NM_000293.3(PHKB):c.1824T>C (p.Tyr608=) rs779133927 0.00001
NM_000293.3(PHKB):c.1845A>C (p.Pro615=) rs769267862 0.00001
NM_000293.3(PHKB):c.1855G>T (p.Val619Phe) rs1207819185 0.00001
NM_000293.3(PHKB):c.1861A>C (p.Ile621Leu) rs143871324 0.00001
NM_000293.3(PHKB):c.1862T>C (p.Ile621Thr) rs1042750036 0.00001
NM_000293.3(PHKB):c.1876A>G (p.Ile626Val) rs1233602044 0.00001
NM_000293.3(PHKB):c.1881-9A>G rs778163944 0.00001
NM_000293.3(PHKB):c.1893C>T (p.Phe631=) rs987280896 0.00001
NM_000293.3(PHKB):c.1917A>G (p.Ala639=) rs964498251 0.00001
NM_000293.3(PHKB):c.1926A>G (p.Lys642=) rs1973225457 0.00001
NM_000293.3(PHKB):c.1971+29A>G rs974712790 0.00001
NM_000293.3(PHKB):c.1972-13G>A rs760525255 0.00001
NM_000293.3(PHKB):c.1972-14C>T rs1428629775 0.00001
NM_000293.3(PHKB):c.1972-8C>T rs759445171 0.00001
NM_000293.3(PHKB):c.1972-9A>G rs566967823 0.00001
NM_000293.3(PHKB):c.1977A>T (p.Leu659=) rs758601628 0.00001
NM_000293.3(PHKB):c.1983_1984del (p.Gly662fs) rs1973422354 0.00001
NM_000293.3(PHKB):c.1992G>A (p.Val664=) rs751852176 0.00001
NM_000293.3(PHKB):c.2014C>T (p.Arg672Ter) rs1273669177 0.00001
NM_000293.3(PHKB):c.2034-16T>C rs1436499729 0.00001
NM_000293.3(PHKB):c.2034-20C>A rs368210647 0.00001
NM_000293.3(PHKB):c.2046T>C (p.Phe682=) rs142891808 0.00001
NM_000293.3(PHKB):c.2064A>G (p.Leu688=) rs373862201 0.00001
NM_000293.3(PHKB):c.2186A>C (p.Gln729Pro) rs573384357 0.00001
NM_000293.3(PHKB):c.2196+14A>G rs751084282 0.00001
NM_000293.3(PHKB):c.2196+18C>T rs1007615066 0.00001
NM_000293.3(PHKB):c.2196+19C>T rs1234553645 0.00001
NM_000293.3(PHKB):c.2197-14A>T rs751011084 0.00001
NM_000293.3(PHKB):c.2283C>T (p.Thr761=) rs775960919 0.00001
NM_000293.3(PHKB):c.2331A>G (p.Lys777=) rs1315025306 0.00001
NM_000293.3(PHKB):c.2332del (p.Leu778fs) rs781603142 0.00001
NM_000293.3(PHKB):c.2346G>A (p.Val782=) rs764078298 0.00001
NM_000293.3(PHKB):c.2347C>T (p.Arg783Cys) rs143421326 0.00001
NM_000293.3(PHKB):c.2351A>G (p.Tyr784Cys) rs1257269407 0.00001
NM_000293.3(PHKB):c.2359G>C (p.Ala787Pro) rs1485645875 0.00001
NM_000293.3(PHKB):c.2370G>A (p.Gln790=) rs748646965 0.00001
NM_000293.3(PHKB):c.2382C>T (p.Ser794=) rs1463366667 0.00001
NM_000293.3(PHKB):c.2427+1017T>C rs554268224 0.00001
NM_000293.3(PHKB):c.2427+1051C>A rs757773313 0.00001
NM_000293.3(PHKB):c.2427+1052_2427+1083del rs1973532430 0.00001
NM_000293.3(PHKB):c.2427+1064A>G rs547557019 0.00001
NM_000293.3(PHKB):c.2427+962C>A rs748946278 0.00001
NM_000293.3(PHKB):c.2427+963C>G rs768482727 0.00001
NM_000293.3(PHKB):c.2427+977C>T rs760569328 0.00001
NM_000293.3(PHKB):c.2427+980C>T rs766475317 0.00001
NM_000293.3(PHKB):c.2428-11G>A rs753359219 0.00001
NM_000293.3(PHKB):c.2430A>G (p.Val810=) rs1230749940 0.00001
NM_000293.3(PHKB):c.2510A>G (p.Tyr837Cys) rs764238620 0.00001
NM_000293.3(PHKB):c.2534G>C (p.Arg845Thr) rs762116229 0.00001
NM_000293.3(PHKB):c.2538A>G (p.Glu846=) rs750928797 0.00001
NM_000293.3(PHKB):c.2550G>A (p.Gln850=) rs1210454950 0.00001
NM_000293.3(PHKB):c.2631-14C>T rs774556056 0.00001
NM_000293.3(PHKB):c.2631-15C>T rs768598010 0.00001
NM_000293.3(PHKB):c.2633G>A (p.Trp878Ter) rs1000274245 0.00001
NM_000293.3(PHKB):c.2668C>T (p.Arg890Cys) rs555108367 0.00001
NM_000293.3(PHKB):c.2710C>T (p.Pro904Ser) rs1400548271 0.00001
NM_000293.3(PHKB):c.2725C>T (p.Gln909Ter) rs748262135 0.00001
NM_000293.3(PHKB):c.2745G>A (p.Leu915=) rs2506708894 0.00001
NM_000293.3(PHKB):c.2766-5T>A rs1335336812 0.00001
NM_000293.3(PHKB):c.2771G>C (p.Trp924Ser) rs1378068034 0.00001
NM_000293.3(PHKB):c.2817C>T (p.Thr939=) rs771340352 0.00001
NM_000293.3(PHKB):c.2818G>A (p.Gly940Arg) rs929325638 0.00001
NM_000293.3(PHKB):c.2819G>C (p.Gly940Ala) rs781357865 0.00001
NM_000293.3(PHKB):c.2832A>G (p.Arg944=) rs1974096940 0.00001
NM_000293.3(PHKB):c.2835G>A (p.Val945=) rs1974097119 0.00001
NM_000293.3(PHKB):c.2839C>T (p.Gln947Ter) rs763501714 0.00001
NM_000293.3(PHKB):c.2860A>G (p.Asn954Asp) rs1164468458 0.00001
NM_000293.3(PHKB):c.2861A>G (p.Asn954Ser) rs147624679 0.00001
NM_000293.3(PHKB):c.2876C>T (p.Ala959Val) rs764252270 0.00001
NM_000293.3(PHKB):c.2907G>A (p.Leu969=) rs751653605 0.00001
NM_000293.3(PHKB):c.2994C>T (p.Ile998=) rs1420695588 0.00001
NM_000293.3(PHKB):c.3003+12del rs767601532 0.00001
NM_000293.3(PHKB):c.3003G>A (p.Glu1001=) rs760883941 0.00001
NM_000293.3(PHKB):c.3004-11G>C rs747864138 0.00001
NM_000293.3(PHKB):c.3004-2A>G rs1974188923 0.00001
NM_000293.3(PHKB):c.3021C>A (p.Ser1007=) rs1397732484 0.00001
NM_000293.3(PHKB):c.3030G>A (p.Leu1010=) rs1402815994 0.00001
NM_000293.3(PHKB):c.306-2A>G rs797044442 0.00001
NM_000293.3(PHKB):c.306-4C>T rs1970347800 0.00001
NM_000293.3(PHKB):c.307C>T (p.Arg103Ter) rs145166656 0.00001
NM_000293.3(PHKB):c.3085A>G (p.Lys1029Glu) rs199558394 0.00001
NM_000293.3(PHKB):c.3098A>G (p.Asn1033Ser) rs894560511 0.00001
NM_000293.3(PHKB):c.3108A>G (p.Gln1036=) rs770990984 0.00001
NM_000293.3(PHKB):c.3144+9A>C rs200504388 0.00001
NM_000293.3(PHKB):c.3213G>A (p.Lys1071=) rs745857378 0.00001
NM_000293.3(PHKB):c.3214G>A (p.Ala1072Thr) rs769735460 0.00001
NM_000293.3(PHKB):c.3215C>T (p.Ala1072Val) rs775709533 0.00001
NM_000293.3(PHKB):c.3256A>G (p.Asn1086Asp) rs1974209461 0.00001
NM_000293.3(PHKB):c.3259G>A (p.Asp1087Asn) rs764639480 0.00001
NM_000293.3(PHKB):c.330G>A (p.Arg110=) rs1397842740 0.00001
NM_000293.3(PHKB):c.337G>A (p.Glu113Lys) rs1312712270 0.00001
NM_000293.3(PHKB):c.352G>C (p.Ala118Pro) rs121918022 0.00001
NM_000293.3(PHKB):c.365T>C (p.Met122Thr) rs1970349740 0.00001
NM_000293.3(PHKB):c.370G>C (p.Gly124Arg) rs749597903 0.00001
NM_000293.3(PHKB):c.379T>A (p.Tyr127Asn) rs151291928 0.00001
NM_000293.3(PHKB):c.386A>G (p.Tyr129Cys) rs774882825 0.00001
NM_000293.3(PHKB):c.405+19G>A rs1385645520 0.00001
NM_000293.3(PHKB):c.405+8A>G rs1970351165 0.00001
NM_000293.3(PHKB):c.405+9T>C rs762740543 0.00001
NM_000293.3(PHKB):c.432C>T (p.Arg144=) rs1970512171 0.00001
NM_000293.3(PHKB):c.441A>T (p.Thr147=) rs767387935 0.00001
NM_000293.3(PHKB):c.474A>G (p.Gly158=) rs769375653 0.00001
NM_000293.3(PHKB):c.505C>T (p.His169Tyr) rs2151649556 0.00001
NM_000293.3(PHKB):c.522del (p.Val175fs) rs1242540921 0.00001
NM_000293.3(PHKB):c.543C>T (p.Tyr181=) rs556111769 0.00001
NM_000293.3(PHKB):c.589G>A (p.Asp197Asn) rs757713533 0.00001
NM_000293.3(PHKB):c.595-5T>G rs369184808 0.00001
NM_000293.3(PHKB):c.641G>A (p.Arg214His) rs1971193030 0.00001
NM_000293.3(PHKB):c.646C>T (p.Pro216Ser) rs371523617 0.00001
NM_000293.3(PHKB):c.661T>G (p.Trp221Gly) rs777339972 0.00001
NM_000293.3(PHKB):c.681T>C (p.Tyr227=) rs756950044 0.00001
NM_000293.3(PHKB):c.703C>T (p.His235Tyr) rs886052021 0.00001
NM_000293.3(PHKB):c.708G>A (p.Ser236=) rs768892939 0.00001
NM_000293.3(PHKB):c.710+4A>G rs369781722 0.00001
NM_000293.3(PHKB):c.710+7T>G rs976138000 0.00001
NM_000293.3(PHKB):c.716T>C (p.Val239Ala) rs761032231 0.00001
NM_000293.3(PHKB):c.720T>C (p.Gly240=) rs901695491 0.00001
NM_000293.3(PHKB):c.727A>C (p.Lys243Gln) rs190737988 0.00001
NM_000293.3(PHKB):c.735T>C (p.Ala245=) rs2506344758 0.00001
NM_000293.3(PHKB):c.743C>G (p.Ala248Gly) rs1249060365 0.00001
NM_000293.3(PHKB):c.76+2527T>A rs1392358749 0.00001
NM_000293.3(PHKB):c.76+2551C>T rs1309211439 0.00001
NM_000293.3(PHKB):c.76+2562G>C rs759396417 0.00001
NM_000293.3(PHKB):c.76+2574G>C rs201646988 0.00001
NM_000293.3(PHKB):c.76+2585C>G rs1438435525 0.00001
NM_000293.3(PHKB):c.77-7del rs754758968 0.00001
NM_000293.3(PHKB):c.77-8T>C rs1567279723 0.00001
NM_000293.3(PHKB):c.807C>T (p.Leu269=) rs747148702 0.00001
NM_000293.3(PHKB):c.820C>T (p.Arg274Cys) rs781197907 0.00001
NM_000293.3(PHKB):c.821G>A (p.Arg274His) rs776018181 0.00001
NM_000293.3(PHKB):c.842C>T (p.Ser281Leu) rs1415936620 0.00001
NM_000293.3(PHKB):c.876A>G (p.Thr292=) rs1971980628 0.00001
NM_000293.3(PHKB):c.886C>T (p.Leu296=) rs1415494181 0.00001
NM_000293.3(PHKB):c.892C>T (p.Pro298Ser) rs143805637 0.00001
NM_000293.3(PHKB):c.906T>C (p.Tyr302=) rs1971981858 0.00001
NM_000293.3(PHKB):c.921G>A (p.Leu307=) rs575851537 0.00001
NM_000293.3(PHKB):c.941G>A (p.Ser314Asn) rs769525884 0.00001
NM_000293.3(PHKB):c.951T>C (p.Leu317=) rs1415458850 0.00001
NC_000016.10:g.(?_47669195)_(47669437_?)del
NC_000016.10:g.47614206_47644831del
NC_000016.9:g.(47495338_47531309)_(47545684_47549431)del
NC_000016.9:g.(47495338_47531309)_(47581460_47614205)del
NC_000016.9:g.(47623014_47627410)_(47630443_47644736)del
NC_000016.9:g.(47703329_47722951)_(47735435_?)dup
NC_000016.9:g.(?_47495262)_(47537021_?)del
NC_000016.9:g.(?_47495262)_(47549532_?)del
NC_000016.9:g.(?_47495262)_(47614289_?)del
NC_000016.9:g.(?_47495262)_(47621694_?)del
NC_000016.9:g.(?_47495262)_(47644851_?)del
NC_000016.9:g.(?_47531290)_(47531419_?)dup
NC_000016.9:g.(?_47531290)_(47537021_?)del
NC_000016.9:g.(?_47531290)_(47537021_?)dup
NC_000016.9:g.(?_47531290)_(47545703_?)del
NC_000016.9:g.(?_47531290)_(47549532_?)del
NC_000016.9:g.(?_47531290)_(47549532_?)dup
NC_000016.9:g.(?_47531290)_(47581479_?)del
NC_000016.9:g.(?_47531290)_(47623033_?)del
NC_000016.9:g.(?_47531290)_(47644851_?)del
NC_000016.9:g.(?_47531290)_(47703348_?)del
NC_000016.9:g.(?_47533647)_(47537021_?)dup
NC_000016.9:g.(?_47536882)_(47537021_?)del
NC_000016.9:g.(?_47545556)_(47581479_?)del
NC_000016.9:g.(?_47581324)_(47581479_?)del
NC_000016.9:g.(?_47614186)_(47614289_?)del
NC_000016.9:g.(?_47614186)_(47644851_?)del
NC_000016.9:g.(?_47614186)_(47644851_?)dup
NC_000016.9:g.(?_47621559)_(47630462_?)dup
NC_000016.9:g.(?_47644717)_(47644851_?)dup
NC_000016.9:g.(?_47682424)_(47684852_?)del
NC_000016.9:g.(?_47682424)_(47684852_?)dup
NC_000016.9:g.(?_47694397)_(47695731_?)dup
NC_000016.9:g.(?_47698776)_(47699963_?)del
NC_000016.9:g.(?_47722932)_(47733277_?)dup
NC_000016.9:g.(?_47727269)_(47730419_?)del
NM_000293.2(PHKB):c.[2923T>C;2926G>T]
NM_000293.3(PHKB):c.*1000del rs11299370
NM_000293.3(PHKB):c.*1007G>A rs1047494618
NM_000293.3(PHKB):c.*1253A>G rs1974232128
NM_000293.3(PHKB):c.*1262A>C rs886052030
NM_000293.3(PHKB):c.*1311dup rs886052031
NM_000293.3(PHKB):c.*1753G>A rs7202866
NM_000293.3(PHKB):c.*2104T>C rs886052033
NM_000293.3(PHKB):c.*358_*360del rs886052026
NM_000293.3(PHKB):c.*523T>C rs886052027
NM_000293.3(PHKB):c.*610TA[1] rs201839105
NM_000293.3(PHKB):c.*982del rs886052029
NM_000293.3(PHKB):c.1008T>C (p.Asp336=)
NM_000293.3(PHKB):c.100A>G (p.Ser34Gly) rs775255502
NM_000293.3(PHKB):c.1023A>G (p.Ser341=) rs754094853
NM_000293.3(PHKB):c.1029A>G (p.Glu343=) rs1379109143
NM_000293.3(PHKB):c.1045_1049dup (p.Lys351fs) rs2506378006
NM_000293.3(PHKB):c.1049dup (p.Tyr350Ter)
NM_000293.3(PHKB):c.104T>A (p.Ile35Asn)
NM_000293.3(PHKB):c.1054C>G (p.Pro352Ala) rs1197477921
NM_000293.3(PHKB):c.105T>C (p.Ile35=) rs989808854
NM_000293.3(PHKB):c.1068+13A>C rs2506378186
NM_000293.3(PHKB):c.1068+19T>C rs780816899
NM_000293.3(PHKB):c.1069-10T>C rs996901863
NM_000293.3(PHKB):c.1069-236AG[7] rs146578432
NM_000293.3(PHKB):c.1069-58AAT[4] rs548121217
NM_000293.3(PHKB):c.1089T>A (p.Cys363Ter) rs1972066901
NM_000293.3(PHKB):c.1097C>T (p.Pro366Leu) rs2506392262
NM_000293.3(PHKB):c.1098C>T (p.Pro366=) rs1321122122
NM_000293.3(PHKB):c.1117A>G (p.Met373Val) rs1972067736
NM_000293.3(PHKB):c.1126+1G>T rs1268058356
NM_000293.3(PHKB):c.1126+1GTAA[3] rs754121094
NM_000293.3(PHKB):c.1126+2T>C rs967041673
NM_000293.3(PHKB):c.1126+30_1126+52del rs558528097
NM_000293.3(PHKB):c.1126+9G>A rs2506392620
NM_000293.3(PHKB):c.1126G>T (p.Gly376Ter)
NM_000293.3(PHKB):c.1134T>C (p.Phe378=) rs766477231
NM_000293.3(PHKB):c.1162_1166dup (p.Gln389fs) rs1312150142
NM_000293.3(PHKB):c.1175del (p.Leu391_Leu392insTer)
NM_000293.3(PHKB):c.1179T>A (p.Thr393=) rs2151700466
NM_000293.3(PHKB):c.1185A>G (p.Val395=) rs2506395074
NM_000293.3(PHKB):c.1197C>T (p.Thr399=) rs369600478
NM_000293.3(PHKB):c.1204+16del rs761553427
NM_000293.3(PHKB):c.1204+8dup rs2506395237
NM_000293.3(PHKB):c.1204+9G>A rs200832185
NM_000293.3(PHKB):c.1205-12del rs1304231552
NM_000293.3(PHKB):c.1212T>G (p.Pro404=) rs2506401899
NM_000293.3(PHKB):c.1222A>C (p.Lys408Gln) rs1372877925
NM_000293.3(PHKB):c.1228T>C (p.Tyr410His) rs2151701605
NM_000293.3(PHKB):c.1230T>G (p.Tyr410Ter) rs2506401975
NM_000293.3(PHKB):c.1236G>A (p.Val412=) rs2506402006
NM_000293.3(PHKB):c.1239A>C (p.Pro413=) rs1053219117
NM_000293.3(PHKB):c.1257T>C (p.Tyr419=) rs121918021
NM_000293.3(PHKB):c.1257T>G (p.Tyr419Ter) rs121918021
NM_000293.3(PHKB):c.1265del (p.Asn422fs) rs1454293516
NM_000293.3(PHKB):c.1265dup (p.Asn422fs) rs1454293516
NM_000293.3(PHKB):c.126del (p.Asn42fs) rs1970251710
NM_000293.3(PHKB):c.127G>T (p.Glu43Ter) rs2548334893
NM_000293.3(PHKB):c.1317A>C (p.Lys439Asn) rs2506402531
NM_000293.3(PHKB):c.1320del (p.Leu442fs) rs2506402593
NM_000293.3(PHKB):c.1331del (p.Gly444fs) rs765849667
NM_000293.3(PHKB):c.133C>G (p.Leu45Val) rs2548334900
NM_000293.3(PHKB):c.1341T>G (p.Leu447=) rs2506402736
NM_000293.3(PHKB):c.1342T>C (p.Tyr448His)
NM_000293.3(PHKB):c.1348A>T (p.Ile450Phe) rs757003045
NM_000293.3(PHKB):c.134T>C (p.Leu45Pro) rs762053276
NM_000293.3(PHKB):c.1355A>C (p.Lys452Thr)
NM_000293.3(PHKB):c.1363+10G>A
NM_000293.3(PHKB):c.1363+16T>G
NM_000293.3(PHKB):c.1363+20A>G rs2506402979
NM_000293.3(PHKB):c.1363G>C (p.Ala455Pro) rs2506402887
NM_000293.3(PHKB):c.1364-11_1364-9del rs779070389
NM_000293.3(PHKB):c.1364-16C>G rs2506450685
NM_000293.3(PHKB):c.1364-1G>A rs2506450760
NM_000293.3(PHKB):c.1364-2A>G rs1972413438
NM_000293.3(PHKB):c.1380T>C (p.Ser460=) rs2506450846
NM_000293.3(PHKB):c.1391T>C (p.Ile464Thr) rs1567326518
NM_000293.3(PHKB):c.1404G>A (p.Gln468=) rs2506451063
NM_000293.3(PHKB):c.1413C>G (p.Val471=) rs1972415048
NM_000293.3(PHKB):c.1413C>T (p.Val471=)
NM_000293.3(PHKB):c.1428A>G (p.Gln476=) rs373369316
NM_000293.3(PHKB):c.1431T>C (p.Arg477=) rs2506451231
NM_000293.3(PHKB):c.1435G>A (p.Val479Met)
NM_000293.3(PHKB):c.1437G>A (p.Val479=) rs755979326
NM_000293.3(PHKB):c.1446del (p.Arg482fs)
NM_000293.3(PHKB):c.1458+10T>C rs2506451453
NM_000293.3(PHKB):c.1458+11A>T
NM_000293.3(PHKB):c.1458+20C>A rs1251586763
NM_000293.3(PHKB):c.1459-10T>C rs2506537427
NM_000293.3(PHKB):c.1459-13T>C rs951451429
NM_000293.3(PHKB):c.1459-17del rs2506537333
NM_000293.3(PHKB):c.1459-18C>G rs1290810700
NM_000293.3(PHKB):c.1459-19C>T
NM_000293.3(PHKB):c.1480G>A (p.Val494Ile)
NM_000293.3(PHKB):c.1509C>G (p.Ser503Arg) rs2506537789
NM_000293.3(PHKB):c.1514+10C>A
NM_000293.3(PHKB):c.1514+11C>G rs2506537889
NM_000293.3(PHKB):c.1514+2T>A
NM_000293.3(PHKB):c.1515-11A>G
NM_000293.3(PHKB):c.1515-17A>G rs2506540086
NM_000293.3(PHKB):c.1530G>T (p.Leu510=) rs2506540237
NM_000293.3(PHKB):c.1533C>T (p.Asn511=) rs2506540269
NM_000293.3(PHKB):c.1538A>G (p.Tyr513Cys) rs143884635
NM_000293.3(PHKB):c.1548A>T (p.Gln516His) rs996846426
NM_000293.3(PHKB):c.1555dup (p.Thr519fs)
NM_000293.3(PHKB):c.1557T>C (p.Thr519=) rs2506540474
NM_000293.3(PHKB):c.1584A>G (p.Ile528Met) rs1973024428
NM_000293.3(PHKB):c.1602T>C (p.Leu534=)
NM_000293.3(PHKB):c.1608+13G>A rs754227684
NM_000293.3(PHKB):c.1608+15del
NM_000293.3(PHKB):c.1608+18T>C rs2506540858
NM_000293.3(PHKB):c.1609-14C>G rs773205868
NM_000293.3(PHKB):c.1609-14C>T rs773205868
NM_000293.3(PHKB):c.1609-15A>G
NM_000293.3(PHKB):c.1609-17A>C rs1300211038
NM_000293.3(PHKB):c.1609-18C>T rs2506564540
NM_000293.3(PHKB):c.1609-19A>G rs2506564534
NM_000293.3(PHKB):c.1609-20_1609-5del rs2506564508
NM_000293.3(PHKB):c.1609-2A>C rs754199774
NM_000293.3(PHKB):c.1609-9G>A rs2506564609
NM_000293.3(PHKB):c.1611T>G (p.Ala537=) rs2506564676
NM_000293.3(PHKB):c.1622dup (p.Ile543fs) rs2506564729
NM_000293.3(PHKB):c.1627A>T (p.Ile543Phe) rs1973176431
NM_000293.3(PHKB):c.1647C>T (p.Leu549=) rs780719396
NM_000293.3(PHKB):c.166+20A>C
NM_000293.3(PHKB):c.1665G>A (p.Arg555=) rs2506564922
NM_000293.3(PHKB):c.1680C>G (p.Leu560=) rs1162948454
NM_000293.3(PHKB):c.1680C>T (p.Leu560=) rs1162948454
NM_000293.3(PHKB):c.1681G>A (p.Gly561Arg)
NM_000293.3(PHKB):c.1688C>A (p.Ser563Ter) rs1292721679
NM_000293.3(PHKB):c.1692+19C>T rs2506565260
NM_000293.3(PHKB):c.1693-2A>G rs2506567176
NM_000293.3(PHKB):c.1693-8C>T rs1484406572
NM_000293.3(PHKB):c.1698T>C (p.Tyr566=) rs2506567193
NM_000293.3(PHKB):c.1700G>A (p.Arg567His)
NM_000293.3(PHKB):c.1707A>G (p.Leu569=) rs2506567276
NM_000293.3(PHKB):c.1731G>T (p.Pro577=) rs201607512
NM_000293.3(PHKB):c.1748G>A (p.Ser583Asn) rs1567341136
NM_000293.3(PHKB):c.1760T>C (p.Met587Thr) rs886052022
NM_000293.3(PHKB):c.1772_1780delinsATAGATAGATGACATA (p.Val591_Leu594delinsAspArgTer)
NM_000293.3(PHKB):c.1782G>A (p.Leu594=) rs2506567716
NM_000293.3(PHKB):c.1782G>T (p.Leu594=) rs2506567716
NM_000293.3(PHKB):c.1784T>C (p.Ile595Thr) rs2506567745
NM_000293.3(PHKB):c.1788T>C (p.Asp596=) rs758161607
NM_000293.3(PHKB):c.1797+11A>G rs2506567945
NM_000293.3(PHKB):c.1797+18T>C
NM_000293.3(PHKB):c.1797+19T>C rs2506567973
NM_000293.3(PHKB):c.1797+1G>A rs777714363
NM_000293.3(PHKB):c.1797+1G>C rs777714363
NM_000293.3(PHKB):c.1797+20C>T rs1973190580
NM_000293.3(PHKB):c.1798-19A>G rs1973217106
NM_000293.3(PHKB):c.1798-7T>G rs1597150901
NM_000293.3(PHKB):c.1802C>A (p.Ala601Glu)
NM_000293.3(PHKB):c.1802C>T (p.Ala601Val) rs192099645
NM_000293.3(PHKB):c.1805_1808dup (p.Gln603fs) rs2506573467
NM_000293.3(PHKB):c.1810T>G (p.Phe604Val) rs2506573522
NM_000293.3(PHKB):c.1818A>G (p.Lys606=) rs780273839
NM_000293.3(PHKB):c.1820A>G (p.Gln607Arg)
NM_000293.3(PHKB):c.1840C>A (p.Arg614Ser)
NM_000293.3(PHKB):c.1840C>T (p.Arg614Cys) rs369109156
NM_000293.3(PHKB):c.1880+11A>G rs2506574051
NM_000293.3(PHKB):c.1880+6T>C rs2506574042
NM_000293.3(PHKB):c.1881-10T>C rs772452194
NM_000293.3(PHKB):c.1881-11A>G rs2506575213
NM_000293.3(PHKB):c.1881-13_1881-10del rs1363010282
NM_000293.3(PHKB):c.1881-52_1881-49del rs3830242
NM_000293.3(PHKB):c.1887C>T (p.Ser629=) rs2506575322
NM_000293.3(PHKB):c.1888C>T (p.Arg630Trp) rs747479623
NM_000293.3(PHKB):c.1899C>T (p.Pro633=) rs2506575402
NM_000293.3(PHKB):c.1927A>G (p.Lys643Glu) rs2506575574
NM_000293.3(PHKB):c.1929A>G (p.Lys643=) rs1349199129
NM_000293.3(PHKB):c.1938T>C (p.Ile646=) rs1597151266
NM_000293.3(PHKB):c.1941A>T (p.Gly647=) rs551223829
NM_000293.3(PHKB):c.1943del (p.Gly648fs)
NM_000293.3(PHKB):c.1956T>C (p.His652=) rs2506575713
NM_000293.3(PHKB):c.1967T>C (p.Leu656Pro) rs2506575776
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys) rs34667348
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter) rs34667348
NM_000293.3(PHKB):c.1971+19G>A rs1161132750
NM_000293.3(PHKB):c.1971G>T (p.Gln657His)
NM_000293.3(PHKB):c.1972-11T>A rs2506605488
NM_000293.3(PHKB):c.1972-13G>T rs760525255
NM_000293.3(PHKB):c.1972-2A>G rs964263812
NM_000293.3(PHKB):c.1992G>T (p.Val664=) rs751852176
NM_000293.3(PHKB):c.2019C>G (p.Ile673Met)
NM_000293.3(PHKB):c.2019C>T (p.Ile673=) rs755903969
NM_000293.3(PHKB):c.2033+11T>G rs2506605832
NM_000293.3(PHKB):c.2033+15G>A rs2506605856
NM_000293.3(PHKB):c.2033+5G>A rs2506605799
NM_000293.3(PHKB):c.2034-10T>G rs1286053789
NM_000293.3(PHKB):c.2034-18T>A rs1221263448
NM_000293.3(PHKB):c.2034-19C>T rs1226449834
NM_000293.3(PHKB):c.2038C>T (p.Pro680Ser)
NM_000293.3(PHKB):c.2048dup (p.Ser684fs) rs766592623
NM_000293.3(PHKB):c.2060A>T (p.Glu687Val) rs2506606331
NM_000293.3(PHKB):c.2073C>T (p.Pro691=) rs2506606396
NM_000293.3(PHKB):c.2078A>G (p.His693Arg) rs2506606442
NM_000293.3(PHKB):c.2094G>A (p.Arg698=) rs2506606529
NM_000293.3(PHKB):c.2105C>T (p.Thr702Ile) rs1973427551
NM_000293.3(PHKB):c.2106C>A (p.Thr702=) rs1248967430
NM_000293.3(PHKB):c.2107C>T (p.Pro703Ser) rs2506606579
NM_000293.3(PHKB):c.2130G>A (p.Gln710=)
NM_000293.3(PHKB):c.2165A>G (p.Lys722Arg) rs2506606888
NM_000293.3(PHKB):c.2175C>A (p.His725Gln) rs17853186
NM_000293.3(PHKB):c.2175C>T (p.His725=) rs17853186
NM_000293.3(PHKB):c.2176G>A (p.Glu726Lys) rs375361185
NM_000293.3(PHKB):c.2181T>C (p.Ile727=) rs2506606956
NM_000293.3(PHKB):c.2182C>T (p.Leu728Phe) rs56179184
NM_000293.3(PHKB):c.2196+13C>G
NM_000293.3(PHKB):c.2196+13C>T
NM_000293.3(PHKB):c.2196+2T>G rs1973430655
NM_000293.3(PHKB):c.2197-10A>G rs750018974
NM_000293.3(PHKB):c.2197-18C>G rs2506609784
NM_000293.3(PHKB):c.2197-18C>T rs2506609784
NM_000293.3(PHKB):c.2197-19C>T
NM_000293.3(PHKB):c.2208T>C (p.Cys736=) rs772024186
NM_000293.3(PHKB):c.2214T>C (p.Ala738=) rs2506609968
NM_000293.3(PHKB):c.2222C>A (p.Ala741Asp) rs2506609993
NM_000293.3(PHKB):c.2229G>A (p.Leu743=) rs1973448190
NM_000293.3(PHKB):c.2245A>G (p.Lys749Glu) rs1597159344
NM_000293.3(PHKB):c.2253A>G (p.Glu751=) rs2506610142
NM_000293.3(PHKB):c.2256C>T (p.Gly752=) rs1194074069
NM_000293.3(PHKB):c.2259C>T (p.Pro753=) rs2506610178
NM_000293.3(PHKB):c.2261A>C (p.Asn754Thr) rs777073299
NM_000293.3(PHKB):c.2273del (p.Lys758fs) rs2151737344
NM_000293.3(PHKB):c.2278+11A>G rs2506610336
NM_000293.3(PHKB):c.2278+1G>A rs2506610275
NM_000293.3(PHKB):c.2278+8T>G rs2506610312
NM_000293.3(PHKB):c.2278+9G>T rs1402083021
NM_000293.3(PHKB):c.2279-6G>A rs747104285
NM_000293.3(PHKB):c.2279-7T>C rs894156564
NM_000293.3(PHKB):c.2283C>A (p.Thr761=) rs775960919
NM_000293.3(PHKB):c.2291A>G (p.Asp764Gly) rs1973484337
NM_000293.3(PHKB):c.2295C>T (p.His765=) rs2506617136
NM_000293.3(PHKB):c.2301G>A (p.Glu767=) rs1567346750
NM_000293.3(PHKB):c.2304_2305del (p.Arg768fs)
NM_000293.3(PHKB):c.2312G>A (p.Arg771Lys) rs1281119325
NM_000293.3(PHKB):c.2320G>C (p.Gly774Arg) rs376460568
NM_000293.3(PHKB):c.2336+13G>T rs2506617467
NM_000293.3(PHKB):c.2336+18T>C rs1973486241
NM_000293.3(PHKB):c.2336+19G>A rs758214785
NM_000293.3(PHKB):c.2336+22_2336+24del rs748664434
NM_000293.3(PHKB):c.2336+2T>C
NM_000293.3(PHKB):c.2336+4del rs1320840693
NM_000293.3(PHKB):c.2337-12T>G rs1375326739
NM_000293.3(PHKB):c.2344G>A (p.Val782Met) rs762841465
NM_000293.3(PHKB):c.2345_2355del (p.Val782fs) rs2506621905
NM_000293.3(PHKB):c.2361A>G (p.Ala787=) rs1973511734
NM_000293.3(PHKB):c.2385T>C (p.Ser795=) rs2506622273
NM_000293.3(PHKB):c.2386A>G (p.Ile796Val) rs776058296
NM_000293.3(PHKB):c.2398A>G (p.Ile800Val) rs1349561017
NM_000293.3(PHKB):c.2418T>C (p.His806=) rs1973512631
NM_000293.3(PHKB):c.2420G>C (p.Gly807Ala)
NM_000293.3(PHKB):c.2424A>G (p.Lys808=) rs762565799
NM_000293.3(PHKB):c.2424dup (p.Gln809fs)
NM_000293.3(PHKB):c.2427+1001A>G rs2506626444
NM_000293.3(PHKB):c.2427+1006A>G rs1050299
NM_000293.3(PHKB):c.2427+1014G>A rs2151739368
NM_000293.3(PHKB):c.2427+1021C>T rs1973531664
NM_000293.3(PHKB):c.2427+1024A>G rs1457550413
NM_000293.3(PHKB):c.2427+1034A>G rs2506626625
NM_000293.3(PHKB):c.2427+1045del rs2151739379
NM_000293.3(PHKB):c.2427+1053A>G rs375085518
NM_000293.3(PHKB):c.2427+1068G>T rs747852065
NM_000293.3(PHKB):c.2427+1069C>T rs771868988
NM_000293.3(PHKB):c.2427+1071T>C rs2506626837
NM_000293.3(PHKB):c.2427+17T>C rs2506622595
NM_000293.3(PHKB):c.2427+1G>A rs1290323940
NM_000293.3(PHKB):c.2427+947G>A rs2506626089
NM_000293.3(PHKB):c.2427+947G>C rs2506626089
NM_000293.3(PHKB):c.2427+952C>G rs1381191668
NM_000293.3(PHKB):c.2427+959G>A rs1973529754
NM_000293.3(PHKB):c.2427+962C>T rs748946278
NM_000293.3(PHKB):c.2427+964del rs762091938
NM_000293.3(PHKB):c.2427+964dup rs762091938
NM_000293.3(PHKB):c.2427+981G>T rs527426323
NM_000293.3(PHKB):c.2427+986G>A rs2506626371
NM_000293.3(PHKB):c.2427+990G>A rs2506626385
NM_000293.3(PHKB):c.2427+996_2427+1000del rs1973531054
NM_000293.3(PHKB):c.2428-13C>A rs2506637570
NM_000293.3(PHKB):c.2428-13C>G rs2506637570
NM_000293.3(PHKB):c.2448G>A (p.Gly816=) rs1342423928
NM_000293.3(PHKB):c.2453AAG[2] (p.Glu820del) rs532057230
NM_000293.3(PHKB):c.2454A>G (p.Glu818=)
NM_000293.3(PHKB):c.2457del (p.Glu820fs) rs1322527832
NM_000293.3(PHKB):c.2464A>G (p.Ile822Val) rs945657281
NM_000293.3(PHKB):c.2464A>T (p.Ile822Phe) rs945657281
NM_000293.3(PHKB):c.2471A>T (p.Asn824Ile) rs2506638040
NM_000293.3(PHKB):c.2494C>T (p.Gln832Ter)
NM_000293.3(PHKB):c.2518A>G (p.Asn840Asp)
NM_000293.3(PHKB):c.2520C>T (p.Asn840=) rs2506638449
NM_000293.3(PHKB):c.2522C>T (p.Thr841Ile)
NM_000293.3(PHKB):c.2536G>A (p.Glu846Lys)
NM_000293.3(PHKB):c.2541G>C (p.Ala847=) rs778551862
NM_000293.3(PHKB):c.2554G>T (p.Glu852Ter)
NM_000293.3(PHKB):c.2555A>T (p.Glu852Val) rs757998722
NM_000293.3(PHKB):c.2559G>C (p.Leu853=) rs550418875
NM_000293.3(PHKB):c.2567A>G (p.His856Arg)
NM_000293.3(PHKB):c.2573G>C (p.Gly858Ala)
NM_000293.3(PHKB):c.2574C>A (p.Gly858=) rs2506638805
NM_000293.3(PHKB):c.2583C>A (p.Ile861=) rs1389698935
NM_000293.3(PHKB):c.2601A>G (p.Leu867=)
NM_000293.3(PHKB):c.2623C>T (p.Arg875Ter) rs768885733
NM_000293.3(PHKB):c.2624G>A (p.Arg875Gln) rs774459319
NM_000293.3(PHKB):c.2625A>C (p.Arg875=) rs1458881430
NM_000293.3(PHKB):c.2628C>G (p.Ile876Met)
NM_000293.3(PHKB):c.2628C>T (p.Ile876=) rs17812908
NM_000293.3(PHKB):c.2630+13del rs776521213
NM_000293.3(PHKB):c.2630+17G>T rs761204835
NM_000293.3(PHKB):c.2630+7G>A rs2506639274
NM_000293.3(PHKB):c.2631-13T>C
NM_000293.3(PHKB):c.2631-16C>G rs2506708369
NM_000293.3(PHKB):c.2631-6T>A rs1974014134
NM_000293.3(PHKB):c.2637C>T (p.Ile879=) rs2506708426
NM_000293.3(PHKB):c.2647A>G (p.Met883Val)
NM_000293.3(PHKB):c.2652G>A (p.Glu884=) rs2506708537
NM_000293.3(PHKB):c.2657A>C (p.Glu886Ala) rs2506708564
NM_000293.3(PHKB):c.2677G>C (p.Asp893His) rs2142102160
NM_000293.3(PHKB):c.2682G>A (p.Lys894=)
NM_000293.3(PHKB):c.2700T>A (p.Tyr900Ter)
NM_000293.3(PHKB):c.2705T>G (p.Leu902Arg) rs2142102195
NM_000293.3(PHKB):c.2709A>G (p.Ser903=) rs2506708793
NM_000293.3(PHKB):c.2715T>G (p.Ser905Arg) rs886052023
NM_000293.3(PHKB):c.2755C>A (p.Gln919Lys) rs1597183714
NM_000293.3(PHKB):c.2755C>T (p.Gln919Ter)
NM_000293.3(PHKB):c.2760T>C (p.Asn920=) rs772377764
NM_000293.3(PHKB):c.2765+10G>A rs2506709023
NM_000293.3(PHKB):c.2765+11C>A rs2142102234
NM_000293.3(PHKB):c.2765+11C>T rs2142102234
NM_000293.3(PHKB):c.2765+14C>G rs1974017362
NM_000293.3(PHKB):c.2765+14C>T rs1974017362
NM_000293.3(PHKB):c.2765+15T>C rs1974017427
NM_000293.3(PHKB):c.2765+2T>C
NM_000293.3(PHKB):c.2765+7A>C rs2506709011
NM_000293.3(PHKB):c.2766-12C>T rs2506721938
NM_000293.3(PHKB):c.2766-14G>C rs375250621
NM_000293.3(PHKB):c.2766-14G>T rs375250621
NM_000293.3(PHKB):c.2766-18A>G rs761346795
NM_000293.3(PHKB):c.2766-1G>A
NM_000293.3(PHKB):c.2766-9T>C rs2506721954
NM_000293.3(PHKB):c.2772G>A (p.Trp924Ter) rs2506722059
NM_000293.3(PHKB):c.2778C>T (p.Asn926=) rs1160328622
NM_000293.3(PHKB):c.2781G>T (p.Arg927Ser) rs2506722118
NM_000293.3(PHKB):c.2782C>T (p.Arg928Cys) rs766073838
NM_000293.3(PHKB):c.2783G>A (p.Arg928His) rs556303193
NM_000293.3(PHKB):c.2790C>T (p.Ile930=) rs201377441
NM_000293.3(PHKB):c.2791G>A (p.Asp931Asn) rs373243537
NM_000293.3(PHKB):c.2791G>T (p.Asp931Tyr) rs373243537
NM_000293.3(PHKB):c.2813C>G (p.Pro938Arg) rs2142106902
NM_000293.3(PHKB):c.2817dup (p.Gly940fs) rs2506722312
NM_000293.3(PHKB):c.2825A>G (p.Tyr942Cys) rs1405785504
NM_000293.3(PHKB):c.2830C>T (p.Arg944Ter)
NM_000293.3(PHKB):c.2833G>T (p.Val945Leu)
NM_000293.3(PHKB):c.2852G>T (p.Arg951Leu) rs144689991
NM_000293.3(PHKB):c.2856G>T (p.Thr952=) rs191428598
NM_000293.3(PHKB):c.2871T>A (p.Ile957=) rs1974098150
NM_000293.3(PHKB):c.2882A>G (p.Lys961Arg) rs371541668
NM_000293.3(PHKB):c.2884del (p.His962fs)
NM_000293.3(PHKB):c.2895+15T>C rs1224295791
NM_000293.3(PHKB):c.2895+1G>A rs1191733811
NM_000293.3(PHKB):c.2896-19G>A rs1567360950
NM_000293.3(PHKB):c.2896-4dup rs755058564
NM_000293.3(PHKB):c.2898A>G (p.Gln966=) rs2506731651
NM_000293.3(PHKB):c.2901A>C (p.Pro967=) rs1195656062
NM_000293.3(PHKB):c.2907G>C (p.Leu969=)
NM_000293.3(PHKB):c.2921T>C (p.Met974Thr) rs1974147199
NM_000293.3(PHKB):c.2922G>A (p.Met974Ile)
NM_000293.3(PHKB):c.2923T>C (p.Tyr975His) rs111734407
NM_000293.3(PHKB):c.2925T>C (p.Tyr975=) rs1238073352
NM_000293.3(PHKB):c.2959T>C (p.Leu987=) rs370623353
NM_000293.3(PHKB):c.2970T>C (p.Ile990=) rs2506732033
NM_000293.3(PHKB):c.2977C>A (p.Pro993Thr) rs2506732071
NM_000293.3(PHKB):c.2998G>A (p.Val1000Ile)
NM_000293.3(PHKB):c.3003+12G>A rs1974149887
NM_000293.3(PHKB):c.3003+2T>C rs2506732204
NM_000293.3(PHKB):c.3003+6T>C rs754153154
NM_000293.3(PHKB):c.3004-7C>G rs2506737712
NM_000293.3(PHKB):c.3015T>G (p.Val1005=) rs1974189347
NM_000293.3(PHKB):c.3016G>A (p.Val1006Ile) rs1974189408
NM_000293.3(PHKB):c.3018A>G (p.Val1006=) rs1201670813
NM_000293.3(PHKB):c.3024T>C (p.Ile1008=) rs2506737842
NM_000293.3(PHKB):c.3038del (p.Asn1013fs) rs2506737906
NM_000293.3(PHKB):c.3039C>A (p.Asn1013Lys) rs151222947
NM_000293.3(PHKB):c.3039C>T (p.Asn1013=) rs151222947
NM_000293.3(PHKB):c.3046C>G (p.Leu1016Val) rs1974190603
NM_000293.3(PHKB):c.3051A>G (p.Glu1017=) rs2506738026
NM_000293.3(PHKB):c.306-15A>C rs372436374
NM_000293.3(PHKB):c.3066A>G (p.Val1022=) rs2506738071
NM_000293.3(PHKB):c.3079C>T (p.Leu1027=) rs748945962
NM_000293.3(PHKB):c.307C>A (p.Arg103=) rs145166656
NM_000293.3(PHKB):c.3083T>G (p.Val1028Gly) rs2142112931
NM_000293.3(PHKB):c.308G>T (p.Arg103Leu) rs368975705
NM_000293.3(PHKB):c.3092C>G (p.Ala1031Gly)
NM_000293.3(PHKB):c.3123G>T (p.Arg1041=)
NM_000293.3(PHKB):c.3130G>A (p.Glu1044Lys) rs375008974
NM_000293.3(PHKB):c.3131A>G (p.Glu1044Gly) rs763252427
NM_000293.3(PHKB):c.3141_3144del (p.Gln1048fs) rs778012017
NM_000293.3(PHKB):c.3144+11A>G rs2506738646
NM_000293.3(PHKB):c.3144+12_3144+13insT rs757614728
NM_000293.3(PHKB):c.3144+12dup rs1555500966
NM_000293.3(PHKB):c.3144+17_3144+18insCT rs1246437660
NM_000293.3(PHKB):c.3144+23_3144+34del rs5816579
NM_000293.3(PHKB):c.3144+24_3144+34del rs5816579
NM_000293.3(PHKB):c.3144+32_3144+34dup rs5816579
NM_000293.3(PHKB):c.3144+33_3144+34dup rs5816579
NM_000293.3(PHKB):c.3144+34del rs5816579
NM_000293.3(PHKB):c.3144+34dup rs5816579
NM_000293.3(PHKB):c.3144+7A>G rs757907401
NM_000293.3(PHKB):c.3144+9A>G rs200504388
NM_000293.3(PHKB):c.3145-14G>A rs2506741192
NM_000293.3(PHKB):c.3145-14_3145-7del rs759760999
NM_000293.3(PHKB):c.3145-15dup rs2506741182
NM_000293.3(PHKB):c.3145-20C>A rs1467355076
NM_000293.3(PHKB):c.3145-4G>A
NM_000293.3(PHKB):c.3153G>A (p.Met1051Ile)
NM_000293.3(PHKB):c.3164A>G (p.Tyr1055Cys) rs889928704
NM_000293.3(PHKB):c.3171_3172delinsAA (p.Pro1058Thr) rs2506741367
NM_000293.3(PHKB):c.3195A>G (p.Thr1065=)
NM_000293.3(PHKB):c.320A>G (p.Asp107Gly) rs758324636
NM_000293.3(PHKB):c.3221T>A (p.Met1074Lys) rs2506741580
NM_000293.3(PHKB):c.3224A>G (p.Asn1075Ser) rs1405663204
NM_000293.3(PHKB):c.3228G>T (p.Leu1076=) rs2506741616
NM_000293.3(PHKB):c.3231G>A (p.Leu1077=) rs2506741643
NM_000293.3(PHKB):c.3242A>C (p.Glu1081Ala) rs1330403719
NM_000293.3(PHKB):c.3266C>G (p.Pro1089Arg) rs763764574
NM_000293.3(PHKB):c.3267G>T (p.Pro1089=)
NM_000293.3(PHKB):c.3271C>G (p.Leu1091Val) rs2506741942
NM_000293.3(PHKB):c.3280del (p.Ter1094SerextTer?) rs2506741969
NM_000293.3(PHKB):c.3282G>A (p.Ter1094=) rs958133614
NM_000293.3(PHKB):c.333C>A (p.Thr111=) rs1970348808
NM_000293.3(PHKB):c.341dup (p.Glu115fs) rs2548337274
NM_000293.3(PHKB):c.345G>A (p.Glu115=)
NM_000293.3(PHKB):c.363C>T (p.Cys121=) rs2548337294
NM_000293.3(PHKB):c.369_370del (p.Gly124fs) rs2548337300
NM_000293.3(PHKB):c.381C>T (p.Tyr127=) rs2548337310
NM_000293.3(PHKB):c.392G>A (p.Arg131His)
NM_000293.3(PHKB):c.405+10T>G rs2548337343
NM_000293.3(PHKB):c.405+11G>T rs2548337344
NM_000293.3(PHKB):c.405+14G>A rs2548337358
NM_000293.3(PHKB):c.405+16G>T rs2548337359
NM_000293.3(PHKB):c.405+1G>T rs1314795030
NM_000293.3(PHKB):c.405+7C>T rs2548337337
NM_000293.3(PHKB):c.405+8_405+10del rs2151644461
NM_000293.3(PHKB):c.405+9T>A rs762740543
NM_000293.3(PHKB):c.406-14A>G rs772452825
NM_000293.3(PHKB):c.406G>A (p.Val136Ile) rs745316766
NM_000293.3(PHKB):c.409C>T (p.Gln137Ter)
NM_000293.3(PHKB):c.431G>A (p.Arg144His) rs768399607
NM_000293.3(PHKB):c.437C>T (p.Thr146Ile) rs1970512434
NM_000293.3(PHKB):c.438A>G (p.Thr146=) rs1028159391
NM_000293.3(PHKB):c.443G>A (p.Cys148Tyr) rs750368244
NM_000293.3(PHKB):c.444T>C (p.Cys148=) rs2548341000
NM_000293.3(PHKB):c.496G>A (p.Glu166Lys) rs774068671
NM_000293.3(PHKB):c.496G>T (p.Glu166Ter) rs774068671
NM_000293.3(PHKB):c.504T>G (p.Gly168=) rs2548341041
NM_000293.3(PHKB):c.513+11A>G rs1567286023
NM_000293.3(PHKB):c.513+14A>T rs2548341070
NM_000293.3(PHKB):c.513+17C>T rs2548341073
NM_000293.3(PHKB):c.513+2T>A rs2548341056
NM_000293.3(PHKB):c.514-19_514-15del rs1970579871
NM_000293.3(PHKB):c.514-1G>C
NM_000293.3(PHKB):c.514-2del
NM_000293.3(PHKB):c.525G>A (p.Val175=) rs2548342374
NM_000293.3(PHKB):c.530T>C (p.Leu177Pro) rs770841932
NM_000293.3(PHKB):c.536T>C (p.Leu179Pro)
NM_000293.3(PHKB):c.542A>G (p.Tyr181Cys) rs1381110962
NM_000293.3(PHKB):c.544C>T (p.Leu182Phe)
NM_000293.3(PHKB):c.545T>G (p.Leu182Arg) rs1970580865
NM_000293.3(PHKB):c.546T>G (p.Leu182=) rs765386216
NM_000293.3(PHKB):c.566del (p.Gly189fs) rs1970581444
NM_000293.3(PHKB):c.570C>A (p.Leu190=) rs890864927
NM_000293.3(PHKB):c.570_576delinsAC (p.Gln191fs) rs2151651792
NM_000293.3(PHKB):c.571C>G (p.Gln191Glu) rs2151651796
NM_000293.3(PHKB):c.573_577del (p.Gln191fs) rs1233197046
NM_000293.3(PHKB):c.579C>T (p.Ile193=)
NM_000293.3(PHKB):c.594+10C>T rs1970582505
NM_000293.3(PHKB):c.594+1G>A rs2548342446
NM_000293.3(PHKB):c.594+1dup
NM_000293.3(PHKB):c.594+4T>G rs527478463
NM_000293.3(PHKB):c.594+9T>C rs2548342451
NM_000293.3(PHKB):c.595-13C>A rs2506225658
NM_000293.3(PHKB):c.595-18C>T rs2506225639
NM_000293.3(PHKB):c.595-1G>A rs2151672494
NM_000293.3(PHKB):c.595-6T>C rs2506225726
NM_000293.3(PHKB):c.595-7C>A rs1971192113
NM_000293.3(PHKB):c.595G>T (p.Val199Phe)
NM_000293.3(PHKB):c.597C>T (p.Val199=) rs2506225788
NM_000293.3(PHKB):c.602T>G (p.Phe201Cys)
NM_000293.3(PHKB):c.615T>C (p.Leu205=) rs2506225912
NM_000293.3(PHKB):c.618A>G (p.Val206=) rs1319020720
NM_000293.3(PHKB):c.632G>A (p.Arg211Lys) rs1971192807
NM_000293.3(PHKB):c.636T>C (p.Val212=) rs913444440
NM_000293.3(PHKB):c.640C>T (p.Arg214Cys) rs1229604720
NM_000293.3(PHKB):c.642T>C (p.Arg214=) rs1971193080
NM_000293.3(PHKB):c.645G>T (p.Val215=) rs1567301405
NM_000293.3(PHKB):c.655G>C (p.Gly219Arg) rs1293620662
NM_000293.3(PHKB):c.664G>C (p.Glu222Gln) rs866677615
NM_000293.3(PHKB):c.672A>G (p.Gly224=) rs2506226638
NM_000293.3(PHKB):c.673A>G (p.Ser225Gly) rs2506226645
NM_000293.3(PHKB):c.680A>G (p.Tyr227Cys) rs1193202835
NM_000293.3(PHKB):c.684T>C (p.Asn228=)
NM_000293.3(PHKB):c.687T>C (p.Asn229=) rs1386229757
NM_000293.3(PHKB):c.696A>G (p.Thr232=) rs769763655
NM_000293.3(PHKB):c.698A>C (p.Glu233Ala) rs2506226752
NM_000293.3(PHKB):c.704A>C (p.His235Pro)
NM_000293.3(PHKB):c.710+14843C>G rs546767769
NM_000293.3(PHKB):c.710+14T>A rs1971195544
NM_000293.3(PHKB):c.710+19A>C rs2506227063
NM_000293.3(PHKB):c.710+1G>T rs2506226903
NM_000293.3(PHKB):c.710+20G>T rs577519809
NM_000293.3(PHKB):c.710+31dup rs201321914
NM_000293.3(PHKB):c.710+8G>A
NM_000293.3(PHKB):c.711-10T>C rs2506344522
NM_000293.3(PHKB):c.711-12T>A rs1419946628
NM_000293.3(PHKB):c.711-4T>C rs2506344563
NM_000293.3(PHKB):c.711-4_711-3del
NM_000293.3(PHKB):c.713C>A (p.Ser238Ter) rs748242735
NM_000293.3(PHKB):c.713C>T (p.Ser238Leu) rs748242735
NM_000293.3(PHKB):c.714G>T (p.Ser238=) rs772326970
NM_000293.3(PHKB):c.731C>T (p.Ala244Val) rs2506344741
NM_000293.3(PHKB):c.738A>G (p.Leu246=) rs2506344792
NM_000293.3(PHKB):c.744A>C (p.Ala248=) rs761284352
NM_000293.3(PHKB):c.76+2526_76+2527insGTCTTCCGCTTTC
NM_000293.3(PHKB):c.76+2530T>G rs781697867
NM_000293.3(PHKB):c.76+2533A>C rs2548322563
NM_000293.3(PHKB):c.76+2545G>C rs771634122
NM_000293.3(PHKB):c.76+2560A>G
NM_000293.3(PHKB):c.76+2568G>A rs769590253
NM_000293.3(PHKB):c.76+2584C>A rs2548322608
NM_000293.3(PHKB):c.76+2586A>G rs1293923468
NM_000293.3(PHKB):c.76+2588_76+2589dup
NM_000293.3(PHKB):c.77-17T>C rs756868950
NM_000293.3(PHKB):c.77-18T>C rs1415997645
NM_000293.3(PHKB):c.77-1G>A rs780885921
NM_000293.3(PHKB):c.77-8dup rs746737579
NM_000293.3(PHKB):c.774+12G>A rs754963010
NM_000293.3(PHKB):c.774+20G>A rs2506345146
NM_000293.3(PHKB):c.774+217del rs57329634
NM_000293.3(PHKB):c.775-15T>G rs2506371689
NM_000293.3(PHKB):c.775-16C>T
NM_000293.3(PHKB):c.775-17T>G rs2506371673
NM_000293.3(PHKB):c.775-1G>A rs2506371794
NM_000293.3(PHKB):c.775-20T>G rs2506371652
NM_000293.3(PHKB):c.775-4C>T
NM_000293.3(PHKB):c.775-7T>C rs2506371757
NM_000293.3(PHKB):c.785G>A (p.Trp262Ter)
NM_000293.3(PHKB):c.798T>C (p.Phe266=) rs2506371918
NM_000293.3(PHKB):c.80C>G (p.Ser27Ter) rs769640225
NM_000293.3(PHKB):c.80C>T (p.Ser27Leu) rs769640225
NM_000293.3(PHKB):c.817A>G (p.Asn273Asp)
NM_000293.3(PHKB):c.81A>C (p.Ser27=) rs2548334852
NM_000293.3(PHKB):c.843G>A (p.Ser281=) rs1971959088
NM_000293.3(PHKB):c.848T>A (p.Leu283Ter)
NM_000293.3(PHKB):c.850C>A (p.Pro284Thr) rs760319542
NM_000293.3(PHKB):c.850C>T (p.Pro284Ser)
NM_000293.3(PHKB):c.856G>T (p.Glu286Ter) rs2506372380
NM_000293.3(PHKB):c.868_869del (p.Ser289_His290insTer) rs2506372466
NM_000293.3(PHKB):c.870+12A>C rs2506372683
NM_000293.3(PHKB):c.870+15_870+17del rs766367879
NM_000293.3(PHKB):c.870+1G>T
NM_000293.3(PHKB):c.871-16T>C
NM_000293.3(PHKB):c.871-20C>G
NM_000293.3(PHKB):c.871-20C>T rs780255088
NM_000293.3(PHKB):c.871-5T>A rs2506377117
NM_000293.3(PHKB):c.871-5T>C rs2506377117
NM_000293.3(PHKB):c.871-7C>T rs2506377093
NM_000293.3(PHKB):c.871-8G>T rs889015894
NM_000293.3(PHKB):c.878A>C (p.Asp293Ala) rs1456264804
NM_000293.3(PHKB):c.928G>T (p.Glu310Ter) rs2506377426
NM_000293.3(PHKB):c.93del (p.Ser34fs) rs2548334863
NM_000293.3(PHKB):c.942C>A (p.Ser314Arg) rs775139159
NM_000293.3(PHKB):c.943C>T (p.Gln315Ter) rs1230727136
NM_000293.3(PHKB):c.951dup (p.Asp318Ter) rs2506377578
NM_000293.3(PHKB):c.995G>C (p.Arg332Pro) rs201074312
NM_000293.3:c.(76+1_77-1)_(1068+1_1069-1)del
NM_000293.3:c.(?_-1)_(1068+1_1069-1)del

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