ClinVar Miner

List of variants in gene PHKB studied for carbohydrate metabolism disease

Included ClinVar conditions (302):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 848
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HGVS dbSNP gnomAD frequency
NM_000293.3(PHKB):c.775-6G>C rs56268318 0.12475
NM_000293.3(PHKB):c.2309A>G (p.Tyr770Cys) rs16945474 0.07291
NM_000293.3(PHKB):c.*2086A>G rs9940720 0.01397
NM_000293.3(PHKB):c.318T>C (p.Asp106=) rs17738933 0.01382
NM_000293.3(PHKB):c.1363+13G>T rs117536391 0.01189
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.01025
NM_000293.3(PHKB):c.*1001G>A rs868394484 0.00997
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.2244C>G (p.Leu748=) rs34717357 0.00851
NM_000293.3(PHKB):c.3121C>T (p.Arg1041Trp) rs12918964 0.00765
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 0.00258
NM_000293.3(PHKB):c.*590A>G rs143720939 0.00234
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.1574C>A (p.Pro525His) rs79509460 0.00165
NM_000293.3(PHKB):c.574A>G (p.Ile192Val) rs117218785 0.00165
NM_000293.3(PHKB):c.1459-9G>T rs201995780 0.00117
NM_000293.3(PHKB):c.1458+16A>G rs371140883 0.00093
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.2284G>A (p.Val762Ile) rs56010117 0.00087
NM_000293.3(PHKB):c.2075A>G (p.Lys692Arg) rs142381554 0.00084
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 0.00048
NM_000293.3(PHKB):c.2674G>A (p.Gly892Arg) rs149983469 0.00037
NM_000293.3(PHKB):c.1286G>A (p.Arg429Gln) rs141379798 0.00036
NM_000293.3(PHKB):c.*279C>T rs140112731 0.00035
NM_000293.3(PHKB):c.3216G>A (p.Ala1072=) rs137869198 0.00034
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.718G>A (p.Gly240Ser) rs147426858 0.00028
NM_000293.3(PHKB):c.2766-7G>A rs199719186 0.00026
NM_000293.3(PHKB):c.781T>G (p.Ser261Ala) rs137946010 0.00024
NM_000293.3(PHKB):c.1797+8C>T rs77462273 0.00023
NM_000293.3(PHKB):c.2593C>G (p.Pro865Ala) rs142281844 0.00023
NM_000293.3(PHKB):c.*132G>A rs375856403 0.00019
NM_000293.3(PHKB):c.1204+9G>T rs200832185 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.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 0.00016
NM_000293.3(PHKB):c.2766-8T>C rs186710481 0.00016
NM_000293.3(PHKB):c.*991A>G rs951718946 0.00014
NM_000293.3(PHKB):c.76+2537G>A rs145777693 0.00014
NM_000293.3(PHKB):c.2197-10A>T rs750018974 0.00013
NM_000293.3(PHKB):c.1127-2A>G rs535749057 0.00012
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.893C>T (p.Pro298Leu) rs558898797 0.00011
NM_000293.3(PHKB):c.*345C>T rs757393313 0.00010
NM_000293.3(PHKB):c.1378A>T (p.Ser460Cys) rs201217052 0.00010
NM_000293.3(PHKB):c.714G>A (p.Ser238=) rs772326970 0.00010
NM_000293.3(PHKB):c.1307G>A (p.Arg436His) rs143602657 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.3122G>A (p.Arg1041Gln) rs372327608 0.00009
NM_000293.3(PHKB):c.391C>T (p.Arg131Cys) rs202167409 0.00009
NM_000293.3(PHKB):c.491A>G (p.Tyr164Cys) rs144211929 0.00009
NM_000293.3(PHKB):c.*1783A>G rs886052032 0.00008
NM_000293.3(PHKB):c.1387G>C (p.Asp463His) rs150683838 0.00008
NM_000293.3(PHKB):c.2326C>T (p.Gln776Ter) rs149244943 0.00008
NM_000293.3(PHKB):c.2882A>T (p.Lys961Met) rs371541668 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.1090G>T (p.Glu364Ter) rs371296953 0.00007
NM_000293.3(PHKB):c.430C>T (p.Arg144Cys) rs762531075 0.00007
NM_000293.3(PHKB):c.*1839C>G rs981081630 0.00006
NM_000293.3(PHKB):c.*1915A>G rs919228154 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.1544T>C (p.Ile515Thr) rs141224055 0.00006
NM_000293.3(PHKB):c.1599G>A (p.Glu533=) rs756341301 0.00006
NM_000293.3(PHKB):c.2136G>A (p.Pro712=) rs200274360 0.00006
NM_000293.3(PHKB):c.445C>T (p.Leu149Phe) rs370363309 0.00006
NM_000293.3(PHKB):c.*1709G>A rs1007478681 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.*148T>A rs368887864 0.00004
NM_000293.3(PHKB):c.1499T>C (p.Ile500Thr) rs147021608 0.00004
NM_000293.3(PHKB):c.2427+965A>C rs761645932 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.2958G>A (p.Thr986=) rs748651257 0.00004
NM_000293.3(PHKB):c.2995G>A (p.Val999Ile) rs375389167 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.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.2343G>A (p.Ala781=) rs764952326 0.00003
NM_000293.3(PHKB):c.2352C>T (p.Tyr784=) rs570705767 0.00003
NM_000293.3(PHKB):c.2856G>A (p.Thr952=) rs191428598 0.00003
NM_000293.3(PHKB):c.447T>C (p.Leu149=) rs374963473 0.00003
NM_000293.3(PHKB):c.604A>G (p.Ile202Val) rs367667135 0.00003
NM_000293.3(PHKB):c.870+7C>T rs372819242 0.00003
NM_000293.3(PHKB):c.914T>C (p.Phe305Ser) rs746454503 0.00003
NM_000293.3(PHKB):c.1120A>G (p.Ile374Val) rs1243574468 0.00002
NM_000293.3(PHKB):c.1153G>A (p.Val385Ile) rs981615352 0.00002
NM_000293.3(PHKB):c.134T>A (p.Leu45His) rs762053276 0.00002
NM_000293.3(PHKB):c.1546C>T (p.Gln516Ter) rs758004953 0.00002
NM_000293.3(PHKB):c.1894A>G (p.Asn632Asp) rs530842640 0.00002
NM_000293.3(PHKB):c.2278+15C>G rs201402032 0.00002
NM_000293.3(PHKB):c.2544C>T (p.Val848=) rs200981011 0.00002
NM_000293.3(PHKB):c.678A>G (p.Lys226=) rs762504730 0.00002
NM_000293.3(PHKB):c.*349C>T rs886052025 0.00001
NM_000293.3(PHKB):c.*595G>A rs563945926 0.00001
NM_000293.3(PHKB):c.1121T>C (p.Ile374Thr) rs78667243 0.00001
NM_000293.3(PHKB):c.1204+12T>G rs1972080009 0.00001
NM_000293.3(PHKB):c.1274G>A (p.Gly425Asp) rs774768331 0.00001
NM_000293.3(PHKB):c.1351G>A (p.Ala451Thr) rs745821795 0.00001
NM_000293.3(PHKB):c.1405C>T (p.Arg469Cys) rs182398740 0.00001
NM_000293.3(PHKB):c.1514+18G>C rs760376574 0.00001
NM_000293.3(PHKB):c.1716T>C (p.Thr572=) rs746052855 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.1862T>C (p.Ile621Thr) rs1042750036 0.00001
NM_000293.3(PHKB):c.1972-8C>T rs759445171 0.00001
NM_000293.3(PHKB):c.1977A>T (p.Leu659=) rs758601628 0.00001
NM_000293.3(PHKB):c.2014C>T (p.Arg672Ter) rs1273669177 0.00001
NM_000293.3(PHKB):c.2106C>T (p.Thr702=) rs1248967430 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.2347C>T (p.Arg783Cys) rs143421326 0.00001
NM_000293.3(PHKB):c.2359G>C (p.Ala787Pro) rs1485645875 0.00001
NM_000293.3(PHKB):c.2382C>T (p.Ser794=) rs1463366667 0.00001
NM_000293.3(PHKB):c.2668C>T (p.Arg890Cys) rs555108367 0.00001
NM_000293.3(PHKB):c.2676A>G (p.Gly892=) rs756848227 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.2818G>A (p.Gly940Arg) rs929325638 0.00001
NM_000293.3(PHKB):c.2819G>C (p.Gly940Ala) rs781357865 0.00001
NM_000293.3(PHKB):c.3030G>A (p.Leu1010=) rs1402815994 0.00001
NM_000293.3(PHKB):c.3042C>T (p.Pro1014=) rs149234185 0.00001
NM_000293.3(PHKB):c.306-2A>G rs797044442 0.00001
NM_000293.3(PHKB):c.3144+9A>C rs200504388 0.00001
NM_000293.3(PHKB):c.3214G>A (p.Ala1072Thr) rs769735460 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.522del (p.Val175fs) rs1242540921 0.00001
NM_000293.3(PHKB):c.595-5T>G rs369184808 0.00001
NM_000293.3(PHKB):c.710+12A>C rs542318460 0.00001
NM_000293.3(PHKB):c.710+7T>G rs976138000 0.00001
NM_000293.3(PHKB):c.727A>C (p.Lys243Gln) rs190737988 0.00001
NM_000293.3(PHKB):c.77-7del rs754758968 0.00001
NM_000293.3(PHKB):c.820C>T (p.Arg274Cys) rs781197907 0.00001
NM_000293.3(PHKB):c.892C>T (p.Pro298Ser) rs143805637 0.00001
NC_000016.10:g.(?_47669195)_(47669437_?)del
NC_000016.10:g.47614206_47644831del
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.*1007G>A rs1047494618
NM_000293.3(PHKB):c.*1105T>C rs1365256572
NM_000293.3(PHKB):c.*1253A>G rs1974232128
NM_000293.3(PHKB):c.*1262A>C rs886052030
NM_000293.3(PHKB):c.*1753G>A rs7202866
NM_000293.3(PHKB):c.*2104T>C rs886052033
NM_000293.3(PHKB):c.*221C>T rs1974213779
NM_000293.3(PHKB):c.*405G>T rs1597192442
NM_000293.3(PHKB):c.*523T>C rs886052027
NM_000293.3(PHKB):c.100A>G (p.Ser34Gly)
NM_000293.3(PHKB):c.1011G>T (p.Gly337=)
NM_000293.3(PHKB):c.1023A>G (p.Ser341=)
NM_000293.3(PHKB):c.1024T>C (p.Leu342=)
NM_000293.3(PHKB):c.1029A>G (p.Glu343=)
NM_000293.3(PHKB):c.1031A>T (p.Asp344Val)
NM_000293.3(PHKB):c.1034C>G (p.Pro345Arg)
NM_000293.3(PHKB):c.1045_1049dup (p.Lys351fs)
NM_000293.3(PHKB):c.1054C>G (p.Pro352Ala) rs1197477921
NM_000293.3(PHKB):c.105T>C (p.Ile35=)
NM_000293.3(PHKB):c.1068+13A>C
NM_000293.3(PHKB):c.1068+19T>C
NM_000293.3(PHKB):c.1069-10T>C
NM_000293.3(PHKB):c.1069-15T>C
NM_000293.3(PHKB):c.1069-3T>C
NM_000293.3(PHKB):c.1069-9C>G
NM_000293.3(PHKB):c.1071A>G (p.Leu357=)
NM_000293.3(PHKB):c.1089T>A (p.Cys363Ter)
NM_000293.3(PHKB):c.1097C>T (p.Pro366Leu)
NM_000293.3(PHKB):c.1098C>T (p.Pro366=)
NM_000293.3(PHKB):c.1117A>G (p.Met373Val) rs1972067736
NM_000293.3(PHKB):c.1126+11T>C
NM_000293.3(PHKB):c.1126+1G>T
NM_000293.3(PHKB):c.1126+1GTAA[3]
NM_000293.3(PHKB):c.1126+2T>C
NM_000293.3(PHKB):c.1126+30_1126+52del rs558528097
NM_000293.3(PHKB):c.1126+8A>G
NM_000293.3(PHKB):c.1126+9G>A
NM_000293.3(PHKB):c.1127-6T>A
NM_000293.3(PHKB):c.1127-7A>G
NM_000293.3(PHKB):c.1134T>C (p.Phe378=)
NM_000293.3(PHKB):c.1162_1166dup (p.Gln389fs)
NM_000293.3(PHKB):c.1179T>A (p.Thr393=) rs2151700466
NM_000293.3(PHKB):c.1185A>G (p.Val395=)
NM_000293.3(PHKB):c.1197C>T (p.Thr399=)
NM_000293.3(PHKB):c.1204+11T>C
NM_000293.3(PHKB):c.1204+16T>A
NM_000293.3(PHKB):c.1204+16del
NM_000293.3(PHKB):c.1204+19G>T
NM_000293.3(PHKB):c.1204+1G>T
NM_000293.3(PHKB):c.1204+7T>C
NM_000293.3(PHKB):c.1204+8dup
NM_000293.3(PHKB):c.1204+9G>A
NM_000293.3(PHKB):c.1205-12del
NM_000293.3(PHKB):c.1205-14T>G
NM_000293.3(PHKB):c.1205-16T>G
NM_000293.3(PHKB):c.1205-4A>G
NM_000293.3(PHKB):c.1205-8C>T
NM_000293.3(PHKB):c.1205G>A (p.Gly402Glu)
NM_000293.3(PHKB):c.1212T>G (p.Pro404=)
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)
NM_000293.3(PHKB):c.1236G>A (p.Val412=)
NM_000293.3(PHKB):c.1239A>C (p.Pro413=)
NM_000293.3(PHKB):c.1256A>G (p.Tyr419Cys)
NM_000293.3(PHKB):c.1257T>C (p.Tyr419=)
NM_000293.3(PHKB):c.1257T>G (p.Tyr419Ter)
NM_000293.3(PHKB):c.1265del (p.Asn422fs)
NM_000293.3(PHKB):c.1265dup (p.Asn422fs)
NM_000293.3(PHKB):c.126T>C (p.Asn42=)
NM_000293.3(PHKB):c.126del (p.Asn42fs)
NM_000293.3(PHKB):c.127G>T (p.Glu43Ter)
NM_000293.3(PHKB):c.1317A>C (p.Lys439Asn)
NM_000293.3(PHKB):c.1319T>C (p.Leu440Pro)
NM_000293.3(PHKB):c.1320del (p.Leu442fs)
NM_000293.3(PHKB):c.1326T>C (p.Leu442=)
NM_000293.3(PHKB):c.1331del (p.Gly444fs)
NM_000293.3(PHKB):c.1341T>G (p.Leu447=)
NM_000293.3(PHKB):c.1348A>T (p.Ile450Phe)
NM_000293.3(PHKB):c.1363+20A>G
NM_000293.3(PHKB):c.1364-11_1364-9del
NM_000293.3(PHKB):c.1364-11del
NM_000293.3(PHKB):c.1364-14C>G
NM_000293.3(PHKB):c.1364-16C>G
NM_000293.3(PHKB):c.1364-1G>A
NM_000293.3(PHKB):c.1364-2A>G rs1972413438
NM_000293.3(PHKB):c.1364-5T>C
NM_000293.3(PHKB):c.1374T>C (p.Leu458=)
NM_000293.3(PHKB):c.1376T>C (p.Ile459Thr)
NM_000293.3(PHKB):c.1380T>C (p.Ser460=)
NM_000293.3(PHKB):c.1389C>T (p.Asp463=)
NM_000293.3(PHKB):c.1391T>C (p.Ile464Thr) rs1567326518
NM_000293.3(PHKB):c.1404G>A (p.Gln468=)
NM_000293.3(PHKB):c.1409A>G (p.Tyr470Cys)
NM_000293.3(PHKB):c.1413C>G (p.Val471=)
NM_000293.3(PHKB):c.1428A>G (p.Gln476=)
NM_000293.3(PHKB):c.1429C>T (p.Arg477Cys)
NM_000293.3(PHKB):c.1431T>C (p.Arg477=)
NM_000293.3(PHKB):c.1434C>T (p.Asn478=)
NM_000293.3(PHKB):c.1437G>A (p.Val479=)
NM_000293.3(PHKB):c.1458+10T>C
NM_000293.3(PHKB):c.1458+20C>A
NM_000293.3(PHKB):c.1458+3A>G
NM_000293.3(PHKB):c.1459-10T>C
NM_000293.3(PHKB):c.1459-13T>C
NM_000293.3(PHKB):c.1459-17del
NM_000293.3(PHKB):c.1459-18C>G
NM_000293.3(PHKB):c.1459-5T>C
NM_000293.3(PHKB):c.1485T>C (p.Val495=)
NM_000293.3(PHKB):c.1509C>G (p.Ser503Arg)
NM_000293.3(PHKB):c.1514+11C>G
NM_000293.3(PHKB):c.1514+12A>T
NM_000293.3(PHKB):c.1514+20G>T
NM_000293.3(PHKB):c.1515-17A>G
NM_000293.3(PHKB):c.1515-8A>C
NM_000293.3(PHKB):c.1520A>G (p.Gln507Arg)
NM_000293.3(PHKB):c.1530G>T (p.Leu510=)
NM_000293.3(PHKB):c.1533C>T (p.Asn511=)
NM_000293.3(PHKB):c.1536A>G (p.Thr512=)
NM_000293.3(PHKB):c.1538A>G (p.Tyr513Cys)
NM_000293.3(PHKB):c.1539T>C (p.Tyr513=)
NM_000293.3(PHKB):c.1548A>T (p.Gln516His)
NM_000293.3(PHKB):c.1557T>C (p.Thr519=)
NM_000293.3(PHKB):c.1563A>G (p.Gln521=)
NM_000293.3(PHKB):c.1584A>G (p.Ile528Met) rs1973024428
NM_000293.3(PHKB):c.1596G>A (p.Gln532=)
NM_000293.3(PHKB):c.1608+13G>A
NM_000293.3(PHKB):c.1608+13G>T
NM_000293.3(PHKB):c.1608+18T>C
NM_000293.3(PHKB):c.1609-14C>G
NM_000293.3(PHKB):c.1609-14C>T
NM_000293.3(PHKB):c.1609-17A>C
NM_000293.3(PHKB):c.1609-18C>T
NM_000293.3(PHKB):c.1609-19A>G
NM_000293.3(PHKB):c.1609-2A>C
NM_000293.3(PHKB):c.1609-7C>A
NM_000293.3(PHKB):c.1609-9G>A
NM_000293.3(PHKB):c.1611T>G (p.Ala537=)
NM_000293.3(PHKB):c.1615T>C (p.Leu539=)
NM_000293.3(PHKB):c.1616T>C (p.Leu539Ser)
NM_000293.3(PHKB):c.1622dup (p.Ile543fs)
NM_000293.3(PHKB):c.1647C>T (p.Leu549=)
NM_000293.3(PHKB):c.1650T>A (p.Ser550=)
NM_000293.3(PHKB):c.1665G>A (p.Arg555=)
NM_000293.3(PHKB):c.1680C>G (p.Leu560=)
NM_000293.3(PHKB):c.1680C>T (p.Leu560=)
NM_000293.3(PHKB):c.1686A>G (p.Thr562=)
NM_000293.3(PHKB):c.1688C>A (p.Ser563Ter) rs1292721679
NM_000293.3(PHKB):c.1690A>G (p.Lys564Glu)
NM_000293.3(PHKB):c.1692+19C>T
NM_000293.3(PHKB):c.1692+20A>T
NM_000293.3(PHKB):c.1693-20T>G
NM_000293.3(PHKB):c.1693-2A>G
NM_000293.3(PHKB):c.1693-4A>C
NM_000293.3(PHKB):c.1693-7C>T
NM_000293.3(PHKB):c.1693-8C>T
NM_000293.3(PHKB):c.1693-9C>T
NM_000293.3(PHKB):c.1698T>C (p.Tyr566=)
NM_000293.3(PHKB):c.1707A>G (p.Leu569=)
NM_000293.3(PHKB):c.1726T>G (p.Tyr576Asp)
NM_000293.3(PHKB):c.1731G>A (p.Pro577=)
NM_000293.3(PHKB):c.1731G>T (p.Pro577=)
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.1779G>T (p.Leu593=)
NM_000293.3(PHKB):c.1782G>A (p.Leu594=)
NM_000293.3(PHKB):c.1782G>T (p.Leu594=)
NM_000293.3(PHKB):c.1784T>C (p.Ile595Thr)
NM_000293.3(PHKB):c.1788T>C (p.Asp596=)
NM_000293.3(PHKB):c.1797+11A>G
NM_000293.3(PHKB):c.1797+12A>G
NM_000293.3(PHKB):c.1797+13C>T
NM_000293.3(PHKB):c.1797+19T>C
NM_000293.3(PHKB):c.1797+1G>A
NM_000293.3(PHKB):c.1797+1G>C rs777714363
NM_000293.3(PHKB):c.1797+20C>T
NM_000293.3(PHKB):c.1798-19A>G
NM_000293.3(PHKB):c.1798-9G>C
NM_000293.3(PHKB):c.1800T>C (p.Asn600=)
NM_000293.3(PHKB):c.1802C>T (p.Ala601Val) rs192099645
NM_000293.3(PHKB):c.1805_1808dup (p.Gln603fs)
NM_000293.3(PHKB):c.1810T>G (p.Phe604Val)
NM_000293.3(PHKB):c.1818A>G (p.Lys606=)
NM_000293.3(PHKB):c.1824T>C (p.Tyr608=)
NM_000293.3(PHKB):c.1841G>A (p.Arg614His)
NM_000293.3(PHKB):c.1845A>C (p.Pro615=)
NM_000293.3(PHKB):c.1860C>T (p.Leu620=)
NM_000293.3(PHKB):c.1861A>C (p.Ile621Leu)
NM_000293.3(PHKB):c.1864C>T (p.Arg622Trp)
NM_000293.3(PHKB):c.1876A>G (p.Ile626Val)
NM_000293.3(PHKB):c.1880+11A>G
NM_000293.3(PHKB):c.1880+6T>C
NM_000293.3(PHKB):c.1881-10T>C
NM_000293.3(PHKB):c.1881-11A>G
NM_000293.3(PHKB):c.1881-13_1881-10del
NM_000293.3(PHKB):c.1881-9A>G
NM_000293.3(PHKB):c.1887C>T (p.Ser629=)
NM_000293.3(PHKB):c.1888C>T (p.Arg630Trp)
NM_000293.3(PHKB):c.1893C>T (p.Phe631=)
NM_000293.3(PHKB):c.1899C>T (p.Pro633=)
NM_000293.3(PHKB):c.1900A>G (p.Ile634Val)
NM_000293.3(PHKB):c.1917A>G (p.Ala639=)
NM_000293.3(PHKB):c.1926A>G (p.Lys642=)
NM_000293.3(PHKB):c.1927A>G (p.Lys643Glu)
NM_000293.3(PHKB):c.1929A>G (p.Lys643=)
NM_000293.3(PHKB):c.1938T>C (p.Ile646=)
NM_000293.3(PHKB):c.1941A>T (p.Gly647=) rs551223829
NM_000293.3(PHKB):c.1956T>C (p.His652=)
NM_000293.3(PHKB):c.1964G>A (p.Arg655His) rs756158798
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
NM_000293.3(PHKB):c.1972-11T>A
NM_000293.3(PHKB):c.1972-13G>A
NM_000293.3(PHKB):c.1972-13G>T
NM_000293.3(PHKB):c.1972-14C>T
NM_000293.3(PHKB):c.1972-2A>G rs964263812
NM_000293.3(PHKB):c.1972-9A>G
NM_000293.3(PHKB):c.1983_1984del (p.Gly662fs)
NM_000293.3(PHKB):c.1992G>A (p.Val664=)
NM_000293.3(PHKB):c.1992G>T (p.Val664=)
NM_000293.3(PHKB):c.2019C>T (p.Ile673=)
NM_000293.3(PHKB):c.2033+11T>G
NM_000293.3(PHKB):c.2033+15G>A
NM_000293.3(PHKB):c.2033+5G>A
NM_000293.3(PHKB):c.2034-10T>G
NM_000293.3(PHKB):c.2034-16T>C
NM_000293.3(PHKB):c.2034-19C>T
NM_000293.3(PHKB):c.2034-20C>A
NM_000293.3(PHKB):c.2046T>C (p.Phe682=)
NM_000293.3(PHKB):c.2048dup (p.Ser684fs) rs766592623
NM_000293.3(PHKB):c.2060A>T (p.Glu687Val)
NM_000293.3(PHKB):c.2064A>G (p.Leu688=)
NM_000293.3(PHKB):c.2073C>T (p.Pro691=)
NM_000293.3(PHKB):c.2078A>G (p.His693Arg)
NM_000293.3(PHKB):c.2086G>A (p.Val696Ile)
NM_000293.3(PHKB):c.2094G>A (p.Arg698=)
NM_000293.3(PHKB):c.2105C>T (p.Thr702Ile)
NM_000293.3(PHKB):c.2106C>A (p.Thr702=)
NM_000293.3(PHKB):c.2107C>T (p.Pro703Ser)
NM_000293.3(PHKB):c.2126G>A (p.Gly709Glu)
NM_000293.3(PHKB):c.2175C>T (p.His725=)
NM_000293.3(PHKB):c.2176G>A (p.Glu726Lys)
NM_000293.3(PHKB):c.2181T>C (p.Ile727=)
NM_000293.3(PHKB):c.2182C>T (p.Leu728Phe)
NM_000293.3(PHKB):c.2196+18C>T
NM_000293.3(PHKB):c.2196+19C>T
NM_000293.3(PHKB):c.2197-10A>G
NM_000293.3(PHKB):c.2197-14A>T
NM_000293.3(PHKB):c.2197-17G>A
NM_000293.3(PHKB):c.2197-18C>G
NM_000293.3(PHKB):c.2197-18C>T
NM_000293.3(PHKB):c.2208T>C (p.Cys736=)
NM_000293.3(PHKB):c.2214T>C (p.Ala738=)
NM_000293.3(PHKB):c.2222C>A (p.Ala741Asp)
NM_000293.3(PHKB):c.2229G>A (p.Leu743=)
NM_000293.3(PHKB):c.2245A>G (p.Lys749Glu) rs1597159344
NM_000293.3(PHKB):c.2253A>G (p.Glu751=)
NM_000293.3(PHKB):c.2256C>T (p.Gly752=)
NM_000293.3(PHKB):c.2259C>T (p.Pro753=)
NM_000293.3(PHKB):c.2261A>C (p.Asn754Thr)
NM_000293.3(PHKB):c.2273del (p.Lys758fs) rs2151737344
NM_000293.3(PHKB):c.2278+11A>G
NM_000293.3(PHKB):c.2278+16T>C
NM_000293.3(PHKB):c.2278+1G>A
NM_000293.3(PHKB):c.2278+8T>G
NM_000293.3(PHKB):c.2278+9G>T rs1402083021
NM_000293.3(PHKB):c.2279-6G>A
NM_000293.3(PHKB):c.2279-7T>C
NM_000293.3(PHKB):c.2281A>G (p.Thr761Ala)
NM_000293.3(PHKB):c.2283C>A (p.Thr761=)
NM_000293.3(PHKB):c.2283C>T (p.Thr761=) rs775960919
NM_000293.3(PHKB):c.2291A>G (p.Asp764Gly) rs1973484337
NM_000293.3(PHKB):c.2295C>T (p.His765=)
NM_000293.3(PHKB):c.2301G>A (p.Glu767=)
NM_000293.3(PHKB):c.2312G>A (p.Arg771Lys)
NM_000293.3(PHKB):c.2320G>C (p.Gly774Arg)
NM_000293.3(PHKB):c.2329_2336+5del
NM_000293.3(PHKB):c.2331A>G (p.Lys777=)
NM_000293.3(PHKB):c.2332del (p.Leu778fs)
NM_000293.3(PHKB):c.2336+13G>T
NM_000293.3(PHKB):c.2336+18T>C
NM_000293.3(PHKB):c.2336+19G>A
NM_000293.3(PHKB):c.2336+19G>T
NM_000293.3(PHKB):c.2336+22_2336+24del
NM_000293.3(PHKB):c.2337-12T>G
NM_000293.3(PHKB):c.2342C>T (p.Ala781Val)
NM_000293.3(PHKB):c.2344G>A (p.Val782Met)
NM_000293.3(PHKB):c.2345_2355del (p.Val782fs)
NM_000293.3(PHKB):c.2346G>A (p.Val782=)
NM_000293.3(PHKB):c.2361A>G (p.Ala787=)
NM_000293.3(PHKB):c.2370G>A (p.Gln790=)
NM_000293.3(PHKB):c.2385T>C (p.Ser795=)
NM_000293.3(PHKB):c.2398A>G (p.Ile800Val)
NM_000293.3(PHKB):c.2418T>C (p.His806=)
NM_000293.3(PHKB):c.2424A>G (p.Lys808=)
NM_000293.3(PHKB):c.2427+1001A>G
NM_000293.3(PHKB):c.2427+1014G>A rs2151739368
NM_000293.3(PHKB):c.2427+1017T>C
NM_000293.3(PHKB):c.2427+1021C>T
NM_000293.3(PHKB):c.2427+1024A>G
NM_000293.3(PHKB):c.2427+1034A>G
NM_000293.3(PHKB):c.2427+1045del rs2151739379
NM_000293.3(PHKB):c.2427+1051C>A
NM_000293.3(PHKB):c.2427+1052_2427+1083del
NM_000293.3(PHKB):c.2427+1053A>G rs375085518
NM_000293.3(PHKB):c.2427+1064A>G
NM_000293.3(PHKB):c.2427+1068G>T
NM_000293.3(PHKB):c.2427+1069C>T
NM_000293.3(PHKB):c.2427+1071T>C
NM_000293.3(PHKB):c.2427+17T>C
NM_000293.3(PHKB):c.2427+1G>A
NM_000293.3(PHKB):c.2427+947G>A
NM_000293.3(PHKB):c.2427+947G>C
NM_000293.3(PHKB):c.2427+952C>A
NM_000293.3(PHKB):c.2427+952C>G
NM_000293.3(PHKB):c.2427+959G>A
NM_000293.3(PHKB):c.2427+962C>A
NM_000293.3(PHKB):c.2427+962C>T
NM_000293.3(PHKB):c.2427+963C>G
NM_000293.3(PHKB):c.2427+964del rs762091938
NM_000293.3(PHKB):c.2427+970G>A
NM_000293.3(PHKB):c.2427+977C>T
NM_000293.3(PHKB):c.2427+980C>T
NM_000293.3(PHKB):c.2427+981G>A
NM_000293.3(PHKB):c.2427+981G>T
NM_000293.3(PHKB):c.2427+986G>A
NM_000293.3(PHKB):c.2427+990G>A
NM_000293.3(PHKB):c.2427+996_2427+1000del
NM_000293.3(PHKB):c.2428-11G>A
NM_000293.3(PHKB):c.2428-13C>A
NM_000293.3(PHKB):c.2428-13C>G
NM_000293.3(PHKB):c.2428-4G>T
NM_000293.3(PHKB):c.2430A>G (p.Val810=)
NM_000293.3(PHKB):c.2448G>A (p.Gly816=)
NM_000293.3(PHKB):c.2453AAG[2] (p.Glu820del) rs532057230
NM_000293.3(PHKB):c.2457del (p.Glu820fs) rs1322527832
NM_000293.3(PHKB):c.2471A>T (p.Asn824Ile)
NM_000293.3(PHKB):c.2510A>G (p.Tyr837Cys)
NM_000293.3(PHKB):c.2520C>T (p.Asn840=)
NM_000293.3(PHKB):c.2534G>C (p.Arg845Thr)
NM_000293.3(PHKB):c.2538A>G (p.Glu846=)
NM_000293.3(PHKB):c.2541G>A (p.Ala847=)
NM_000293.3(PHKB):c.2541G>C (p.Ala847=)
NM_000293.3(PHKB):c.2550G>A (p.Gln850=)
NM_000293.3(PHKB):c.2555A>T (p.Glu852Val)
NM_000293.3(PHKB):c.2559G>C (p.Leu853=)
NM_000293.3(PHKB):c.2574C>A (p.Gly858=)
NM_000293.3(PHKB):c.2581A>G (p.Ile861Val)
NM_000293.3(PHKB):c.2583C>A (p.Ile861=)
NM_000293.3(PHKB):c.2588A>G (p.Asn863Ser)
NM_000293.3(PHKB):c.2623C>T (p.Arg875Ter)
NM_000293.3(PHKB):c.2624G>A (p.Arg875Gln)
NM_000293.3(PHKB):c.2625A>C (p.Arg875=)
NM_000293.3(PHKB):c.2628C>T (p.Ile876=)
NM_000293.3(PHKB):c.2630+13del
NM_000293.3(PHKB):c.2630+17G>T
NM_000293.3(PHKB):c.2630+7G>A
NM_000293.3(PHKB):c.2631-14C>T
NM_000293.3(PHKB):c.2631-15C>T
NM_000293.3(PHKB):c.2631-16C>G
NM_000293.3(PHKB):c.2631-6T>A
NM_000293.3(PHKB):c.2633G>A (p.Trp878Ter)
NM_000293.3(PHKB):c.2637C>T (p.Ile879=)
NM_000293.3(PHKB):c.2652G>A (p.Glu884=)
NM_000293.3(PHKB):c.2657A>C (p.Glu886Ala)
NM_000293.3(PHKB):c.2667C>A (p.Ile889=)
NM_000293.3(PHKB):c.2677G>C (p.Asp893His) rs2142102160
NM_000293.3(PHKB):c.2705T>G (p.Leu902Arg) rs2142102195
NM_000293.3(PHKB):c.2709A>G (p.Ser903=)
NM_000293.3(PHKB):c.2715T>G (p.Ser905Arg) rs886052023
NM_000293.3(PHKB):c.2745G>A (p.Leu915=)
NM_000293.3(PHKB):c.2755C>A (p.Gln919Lys)
NM_000293.3(PHKB):c.2760T>C (p.Asn920=)
NM_000293.3(PHKB):c.2765+10G>A
NM_000293.3(PHKB):c.2765+11C>A
NM_000293.3(PHKB):c.2765+11C>T
NM_000293.3(PHKB):c.2765+14C>G
NM_000293.3(PHKB):c.2765+14C>T
NM_000293.3(PHKB):c.2765+15T>C
NM_000293.3(PHKB):c.2765+7A>C
NM_000293.3(PHKB):c.2766-12C>T
NM_000293.3(PHKB):c.2766-14G>C
NM_000293.3(PHKB):c.2766-14G>T rs375250621
NM_000293.3(PHKB):c.2766-18A>G
NM_000293.3(PHKB):c.2766-5T>A
NM_000293.3(PHKB):c.2766-9T>C
NM_000293.3(PHKB):c.2772G>A (p.Trp924Ter)
NM_000293.3(PHKB):c.2778C>T (p.Asn926=)
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=)
NM_000293.3(PHKB):c.2791G>A (p.Asp931Asn) rs373243537
NM_000293.3(PHKB):c.2813C>G (p.Pro938Arg) rs2142106902
NM_000293.3(PHKB):c.2817C>T (p.Thr939=)
NM_000293.3(PHKB):c.2817dup (p.Gly940fs)
NM_000293.3(PHKB):c.2825A>G (p.Tyr942Cys)
NM_000293.3(PHKB):c.2832A>G (p.Arg944=) rs1974096940
NM_000293.3(PHKB):c.2835G>A (p.Val945=)
NM_000293.3(PHKB):c.2839C>T (p.Gln947Ter)
NM_000293.3(PHKB):c.2852G>T (p.Arg951Leu)
NM_000293.3(PHKB):c.2856G>T (p.Thr952=)
NM_000293.3(PHKB):c.2858C>T (p.Pro953Leu)
NM_000293.3(PHKB):c.2861A>G (p.Asn954Ser)
NM_000293.3(PHKB):c.2871T>A (p.Ile957=)
NM_000293.3(PHKB):c.2876C>T (p.Ala959Val)
NM_000293.3(PHKB):c.2882A>G (p.Lys961Arg)
NM_000293.3(PHKB):c.2895+13C>T
NM_000293.3(PHKB):c.2895+14A>G
NM_000293.3(PHKB):c.2895+15T>C
NM_000293.3(PHKB):c.2895+1G>A
NM_000293.3(PHKB):c.2896-19G>A
NM_000293.3(PHKB):c.2896-1G>T
NM_000293.3(PHKB):c.2896-4dup
NM_000293.3(PHKB):c.2898A>G (p.Gln966=)
NM_000293.3(PHKB):c.2901A>C (p.Pro967=)
NM_000293.3(PHKB):c.2907G>A (p.Leu969=)
NM_000293.3(PHKB):c.2925T>C (p.Tyr975=)
NM_000293.3(PHKB):c.2959T>C (p.Leu987=)
NM_000293.3(PHKB):c.2970T>C (p.Ile990=)
NM_000293.3(PHKB):c.2977C>A (p.Pro993Thr)
NM_000293.3(PHKB):c.2982G>A (p.Gln994=)
NM_000293.3(PHKB):c.2985C>T (p.Tyr995=)
NM_000293.3(PHKB):c.2994C>T (p.Ile998=)
NM_000293.3(PHKB):c.3003+12G>A
NM_000293.3(PHKB):c.3003+12del
NM_000293.3(PHKB):c.3003+2T>C
NM_000293.3(PHKB):c.3003+6T>C
NM_000293.3(PHKB):c.3003G>A (p.Glu1001=)
NM_000293.3(PHKB):c.3004-11G>C
NM_000293.3(PHKB):c.3004-18A>G
NM_000293.3(PHKB):c.3004-2A>G
NM_000293.3(PHKB):c.3004-7C>G
NM_000293.3(PHKB):c.3015T>G (p.Val1005=)
NM_000293.3(PHKB):c.3016G>A (p.Val1006Ile) rs1974189408
NM_000293.3(PHKB):c.3018A>G (p.Val1006=)
NM_000293.3(PHKB):c.3021C>A (p.Ser1007=)
NM_000293.3(PHKB):c.3024T>C (p.Ile1008=)
NM_000293.3(PHKB):c.3038del (p.Asn1013fs)
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)
NM_000293.3(PHKB):c.3051A>G (p.Glu1017=)
NM_000293.3(PHKB):c.306-15A>C
NM_000293.3(PHKB):c.306-4C>T
NM_000293.3(PHKB):c.3066A>G (p.Val1022=)
NM_000293.3(PHKB):c.3079C>T (p.Leu1027=)
NM_000293.3(PHKB):c.307C>A (p.Arg103=)
NM_000293.3(PHKB):c.308G>A (p.Arg103Gln)
NM_000293.3(PHKB):c.308G>T (p.Arg103Leu)
NM_000293.3(PHKB):c.3098A>G (p.Asn1033Ser)
NM_000293.3(PHKB):c.3108A>G (p.Gln1036=)
NM_000293.3(PHKB):c.3130G>A (p.Glu1044Lys) rs375008974
NM_000293.3(PHKB):c.3131A>G (p.Glu1044Gly)
NM_000293.3(PHKB):c.3134T>C (p.Ile1045Thr)
NM_000293.3(PHKB):c.3141_3144del (p.Gln1048fs) rs778012017
NM_000293.3(PHKB):c.3144+11A>G
NM_000293.3(PHKB):c.3144+17_3144+18insC
NM_000293.3(PHKB):c.3144+17_3144+18insCT
NM_000293.3(PHKB):c.3144+23_3144+34del
NM_000293.3(PHKB):c.3144+24_3144+34del
NM_000293.3(PHKB):c.3144+33_3144+34dup rs5816579
NM_000293.3(PHKB):c.3144+34del rs5816579
NM_000293.3(PHKB):c.3144+7A>G
NM_000293.3(PHKB):c.3144+9A>G
NM_000293.3(PHKB):c.3145-14G>A
NM_000293.3(PHKB):c.3145-14_3145-7del rs759760999
NM_000293.3(PHKB):c.3145-15dup
NM_000293.3(PHKB):c.3145-20C>A
NM_000293.3(PHKB):c.3164A>G (p.Tyr1055Cys)
NM_000293.3(PHKB):c.3171_3172delinsAA (p.Pro1058Thr)
NM_000293.3(PHKB):c.320A>G (p.Asp107Gly)
NM_000293.3(PHKB):c.3213G>A (p.Lys1071=)
NM_000293.3(PHKB):c.3215C>T (p.Ala1072Val)
NM_000293.3(PHKB):c.3221T>A (p.Met1074Lys)
NM_000293.3(PHKB):c.3224A>G (p.Asn1075Ser) rs1405663204
NM_000293.3(PHKB):c.3228G>T (p.Leu1076=)
NM_000293.3(PHKB):c.3231G>A (p.Leu1077=)
NM_000293.3(PHKB):c.3234G>A (p.Leu1078=)
NM_000293.3(PHKB):c.3242A>C (p.Glu1081Ala)
NM_000293.3(PHKB):c.3256A>G (p.Asn1086Asp)
NM_000293.3(PHKB):c.3257A>G (p.Asn1086Ser)
NM_000293.3(PHKB):c.3259G>A (p.Asp1087Asn) rs764639480
NM_000293.3(PHKB):c.3266C>G (p.Pro1089Arg) rs763764574
NM_000293.3(PHKB):c.3271C>G (p.Leu1091Val)
NM_000293.3(PHKB):c.3280del (p.Ter1094SerextTer?)
NM_000293.3(PHKB):c.3282G>A (p.Ter1094=)
NM_000293.3(PHKB):c.330G>A (p.Arg110=)
NM_000293.3(PHKB):c.337G>A (p.Glu113Lys)
NM_000293.3(PHKB):c.341dup (p.Glu115fs)
NM_000293.3(PHKB):c.363C>T (p.Cys121=)
NM_000293.3(PHKB):c.369_370del (p.Gly124fs)
NM_000293.3(PHKB):c.379T>A (p.Tyr127Asn)
NM_000293.3(PHKB):c.381C>T (p.Tyr127=)
NM_000293.3(PHKB):c.386A>G (p.Tyr129Cys) rs774882825
NM_000293.3(PHKB):c.399C>T (p.Ala133=)
NM_000293.3(PHKB):c.405+10T>G
NM_000293.3(PHKB):c.405+11G>T
NM_000293.3(PHKB):c.405+14G>A
NM_000293.3(PHKB):c.405+15T>C
NM_000293.3(PHKB):c.405+16G>T
NM_000293.3(PHKB):c.405+19G>A
NM_000293.3(PHKB):c.405+1G>T
NM_000293.3(PHKB):c.405+7C>T
NM_000293.3(PHKB):c.405+8A>G
NM_000293.3(PHKB):c.405+8_405+10del rs2151644461
NM_000293.3(PHKB):c.405+9T>A
NM_000293.3(PHKB):c.405+9T>C
NM_000293.3(PHKB):c.406-14A>G
NM_000293.3(PHKB):c.406G>A (p.Val136Ile)
NM_000293.3(PHKB):c.431G>A (p.Arg144His) rs768399607
NM_000293.3(PHKB):c.432C>T (p.Arg144=)
NM_000293.3(PHKB):c.438A>G (p.Thr146=)
NM_000293.3(PHKB):c.441A>T (p.Thr147=)
NM_000293.3(PHKB):c.443G>A (p.Cys148Tyr)
NM_000293.3(PHKB):c.444T>C (p.Cys148=)
NM_000293.3(PHKB):c.470C>T (p.Thr157Ile)
NM_000293.3(PHKB):c.474A>G (p.Gly158=)
NM_000293.3(PHKB):c.496G>T (p.Glu166Ter)
NM_000293.3(PHKB):c.505C>T (p.His169Tyr)
NM_000293.3(PHKB):c.513+11A>G
NM_000293.3(PHKB):c.513+14A>T
NM_000293.3(PHKB):c.513+17C>T
NM_000293.3(PHKB):c.513+2T>A
NM_000293.3(PHKB):c.514-12T>C
NM_000293.3(PHKB):c.514-19_514-15del
NM_000293.3(PHKB):c.525G>A (p.Val175=)
NM_000293.3(PHKB):c.530T>C (p.Leu177Pro) rs770841932
NM_000293.3(PHKB):c.542A>G (p.Tyr181Cys)
NM_000293.3(PHKB):c.543C>T (p.Tyr181=)
NM_000293.3(PHKB):c.545T>G (p.Leu182Arg) rs1970580865
NM_000293.3(PHKB):c.546T>G (p.Leu182=)
NM_000293.3(PHKB):c.566del (p.Gly189fs)
NM_000293.3(PHKB):c.570C>A (p.Leu190=)
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.589G>A (p.Asp197Asn)
NM_000293.3(PHKB):c.594+10C>T
NM_000293.3(PHKB):c.594+1G>A
NM_000293.3(PHKB):c.594+4T>G
NM_000293.3(PHKB):c.594+9T>C
NM_000293.3(PHKB):c.595-13C>A
NM_000293.3(PHKB):c.595-18C>T
NM_000293.3(PHKB):c.595-1G>A rs2151672494
NM_000293.3(PHKB):c.595-6T>C
NM_000293.3(PHKB):c.595-7C>A
NM_000293.3(PHKB):c.597C>T (p.Val199=)
NM_000293.3(PHKB):c.615T>C (p.Leu205=)
NM_000293.3(PHKB):c.618A>G (p.Val206=)
NM_000293.3(PHKB):c.632G>A (p.Arg211Lys) rs1971192807
NM_000293.3(PHKB):c.636T>C (p.Val212=)
NM_000293.3(PHKB):c.641G>A (p.Arg214His)
NM_000293.3(PHKB):c.642T>C (p.Arg214=)
NM_000293.3(PHKB):c.645G>T (p.Val215=)
NM_000293.3(PHKB):c.646C>T (p.Pro216Ser)
NM_000293.3(PHKB):c.655G>C (p.Gly219Arg)
NM_000293.3(PHKB):c.661T>G (p.Trp221Gly)
NM_000293.3(PHKB):c.664G>C (p.Glu222Gln) rs866677615
NM_000293.3(PHKB):c.672A>G (p.Gly224=)
NM_000293.3(PHKB):c.680A>G (p.Tyr227Cys)
NM_000293.3(PHKB):c.687T>C (p.Asn229=)
NM_000293.3(PHKB):c.696A>G (p.Thr232=)
NM_000293.3(PHKB):c.698A>C (p.Glu233Ala)
NM_000293.3(PHKB):c.703C>T (p.His235Tyr) rs886052021
NM_000293.3(PHKB):c.708G>A (p.Ser236=)
NM_000293.3(PHKB):c.710+14T>A
NM_000293.3(PHKB):c.710+19A>C
NM_000293.3(PHKB):c.710+1G>T
NM_000293.3(PHKB):c.710+20G>A
NM_000293.3(PHKB):c.710+20G>T
NM_000293.3(PHKB):c.710+4A>G
NM_000293.3(PHKB):c.711-10T>C
NM_000293.3(PHKB):c.711-12T>A
NM_000293.3(PHKB):c.711-4T>C
NM_000293.3(PHKB):c.713C>A (p.Ser238Ter)
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.716T>C (p.Val239Ala) rs761032231
NM_000293.3(PHKB):c.720T>C (p.Gly240=)
NM_000293.3(PHKB):c.731C>T (p.Ala244Val)
NM_000293.3(PHKB):c.733G>A (p.Ala245Thr)
NM_000293.3(PHKB):c.735T>C (p.Ala245=)
NM_000293.3(PHKB):c.738A>G (p.Leu246=)
NM_000293.3(PHKB):c.743C>G (p.Ala248Gly)
NM_000293.3(PHKB):c.744A>C (p.Ala248=)
NM_000293.3(PHKB):c.76+18G>A
NM_000293.3(PHKB):c.76+20C>T
NM_000293.3(PHKB):c.76+2527T>A
NM_000293.3(PHKB):c.76+2530T>G
NM_000293.3(PHKB):c.76+2533A>C
NM_000293.3(PHKB):c.76+2542T>C
NM_000293.3(PHKB):c.76+2544C>T
NM_000293.3(PHKB):c.76+2545G>C
NM_000293.3(PHKB):c.76+2551C>T
NM_000293.3(PHKB):c.76+2562G>C
NM_000293.3(PHKB):c.76+2568G>A
NM_000293.3(PHKB):c.76+2574G>C
NM_000293.3(PHKB):c.76+2575T>G
NM_000293.3(PHKB):c.76+2584C>A
NM_000293.3(PHKB):c.76+2585C>G
NM_000293.3(PHKB):c.76+2586A>G
NM_000293.3(PHKB):c.77-17T>C
NM_000293.3(PHKB):c.77-18T>C
NM_000293.3(PHKB):c.77-1G>A
NM_000293.3(PHKB):c.77-8T>C
NM_000293.3(PHKB):c.77-8dup
NM_000293.3(PHKB):c.774+12G>A
NM_000293.3(PHKB):c.774+16C>T
NM_000293.3(PHKB):c.774+20G>A
NM_000293.3(PHKB):c.775-15T>G
NM_000293.3(PHKB):c.775-17T>G
NM_000293.3(PHKB):c.775-18T>C
NM_000293.3(PHKB):c.775-1G>A
NM_000293.3(PHKB):c.775-20T>G
NM_000293.3(PHKB):c.775-7T>C
NM_000293.3(PHKB):c.783G>A (p.Ser261=)
NM_000293.3(PHKB):c.798T>C (p.Phe266=)
NM_000293.3(PHKB):c.807C>T (p.Leu269=)
NM_000293.3(PHKB):c.80C>G (p.Ser27Ter)
NM_000293.3(PHKB):c.80C>T (p.Ser27Leu)
NM_000293.3(PHKB):c.81A>C (p.Ser27=)
NM_000293.3(PHKB):c.821G>A (p.Arg274His)
NM_000293.3(PHKB):c.842C>T (p.Ser281Leu)
NM_000293.3(PHKB):c.843G>A (p.Ser281=)
NM_000293.3(PHKB):c.856G>T (p.Glu286Ter)
NM_000293.3(PHKB):c.868_869del (p.Ser289_His290insTer)
NM_000293.3(PHKB):c.870+12A>C
NM_000293.3(PHKB):c.870+15_870+17del
NM_000293.3(PHKB):c.871-20C>T
NM_000293.3(PHKB):c.871-5T>A
NM_000293.3(PHKB):c.871-5T>C
NM_000293.3(PHKB):c.871-7C>T
NM_000293.3(PHKB):c.871-8G>T
NM_000293.3(PHKB):c.876A>G (p.Thr292=)
NM_000293.3(PHKB):c.886C>T (p.Leu296=)
NM_000293.3(PHKB):c.906T>C (p.Tyr302=)
NM_000293.3(PHKB):c.921G>A (p.Leu307=)
NM_000293.3(PHKB):c.928G>T (p.Glu310Ter)
NM_000293.3(PHKB):c.93del (p.Ser34fs)
NM_000293.3(PHKB):c.942C>A (p.Ser314Arg) rs775139159
NM_000293.3(PHKB):c.943C>T (p.Gln315Ter)
NM_000293.3(PHKB):c.951T>C (p.Leu317=)
NM_000293.3(PHKB):c.951dup (p.Asp318Ter)
NM_000293.3(PHKB):c.995G>A (p.Arg332His)
NM_000293.3(PHKB):c.995G>C (p.Arg332Pro)
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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