ClinVar Miner

List of variants reported as uncertain significance for familial polycythemia

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1126
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HGVS dbSNP gnomAD frequency
NM_022051.3(EGLN1):c.287C>T (p.Ala96Val) rs113401862 0.00236
NM_022051.3(EGLN1):c.311C>T (p.Ser104Phe) rs551207815 0.00113
NM_004972.4(JAK2):c.1641+6T>C rs182123615 0.00109
NM_005475.3(SH2B3):c.1198G>A (p.Glu400Lys) rs72650673 0.00080
NM_001430.5(EPAS1):c.*833G>A rs539023852 0.00059
NM_001430.5(EPAS1):c.-347T>G rs192684713 0.00047
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_022051.3(EGLN1):c.*1088C>T rs763620691 0.00035
NM_022051.3(EGLN1):c.*1965A>G rs185322052 0.00035
NM_022051.2(EGLN1):c.-2887A>G rs755076898 0.00034
NM_000551.3(VHL):c.-73C>T rs1034934219 0.00031
NM_022051.3(EGLN1):c.-20T>C rs756211725 0.00028
NM_022051.3(EGLN1):c.*663C>T rs375652885 0.00026
NM_022051.3(EGLN1):c.359C>T (p.Pro120Leu) rs796280222 0.00026
NM_022051.2(EGLN1):c.-470C>T rs886046118 0.00025
NM_001430.5(EPAS1):c.*1278C>T rs545916994 0.00024
NM_022051.3(EGLN1):c.*1185T>C rs775022659 0.00024
NM_022051.3(EGLN1):c.*2044G>A rs886046096 0.00024
NM_022051.3(EGLN1):c.-374C>T rs551144196 0.00024
NM_022051.3(EGLN1):c.*1731C>T rs759117979 0.00022
NM_000121.4(EPOR):c.596T>C (p.Leu199Pro) rs750657898 0.00020
NM_022051.3(EGLN1):c.*371A>C rs923016967 0.00018
NM_022051.3(EGLN1):c.558G>C (p.Lys186Asn) rs201365992 0.00018
NM_022051.2(EGLN1):c.-437C>T rs886046116 0.00014
NM_022051.2(EGLN1):c.-901T>C rs886046125 0.00014
NM_022051.3(EGLN1):c.276G>C (p.Glu92Asp) rs992728216 0.00014
NM_022051.3(EGLN1):c.41G>A (p.Ser14Asn) rs761497751 0.00014
NM_000551.4(VHL):c.629G>A (p.Arg210Gln) rs138780791 0.00013
NM_001430.5(EPAS1):c.*1225C>T rs553535570 0.00013
NM_001430.5(EPAS1):c.*1827C>T rs886056103 0.00012
NM_001430.5(EPAS1):c.-231C>G rs750848838 0.00012
NM_001430.5(EPAS1):c.-237C>G rs977976338 0.00012
NM_001430.5(EPAS1):c.-316C>A rs886056078 0.00012
NM_022051.2(EGLN1):c.-2169C>T rs886046129 0.00012
NM_001430.5(EPAS1):c.-357G>C rs1028727219 0.00011
NM_022051.3(EGLN1):c.-37G>C rs779132675 0.00011
NM_022051.3(EGLN1):c.419C>T (p.Ala140Val) rs768557500 0.00009
NM_000551.4(VHL):c.25G>A (p.Asp9Asn) rs587780730 0.00008
NM_022051.3(EGLN1):c.735T>G (p.Ser245Arg) rs764531356 0.00008
NM_000518.4(HBB):c.34G>A (p.Val12Ile) rs33974228 0.00007
NM_001430.5(EPAS1):c.*527G>T rs886056091 0.00007
NM_001430.5(EPAS1):c.2367C>T (p.Ile789=) rs755579146 0.00007
NM_000518.5(HBB):c.*132C>A rs1420779550 0.00006
NM_000551.3(VHL):c.-207C>T rs886057698 0.00006
NM_000551.4(VHL):c.-47C>T rs745439844 0.00006
NM_000551.4(VHL):c.28G>A (p.Glu10Lys) rs1057519261 0.00006
NM_000551.4(VHL):c.340+616C>T rs544465283 0.00006
NM_000551.4(VHL):c.89G>A (p.Gly30Glu) rs1064793290 0.00006
NM_001430.5(EPAS1):c.-102C>G rs886056082 0.00006
NM_022051.2(EGLN1):c.-1590C>T rs368110035 0.00006
NM_022051.2(EGLN1):c.-461C>A rs886046117 0.00006
NM_022051.2(EGLN1):c.-969G>A rs766034321 0.00006
NM_022051.3(EGLN1):c.*1911C>T rs886046097 0.00006
NM_022051.3(EGLN1):c.*965A>G rs773908732 0.00006
NM_022051.3(EGLN1):c.205G>C (p.Val69Leu) rs931430574 0.00006
NM_022051.3(EGLN1):c.457T>C (p.Ser153Pro) rs963834004 0.00006
NM_022051.3(EGLN1):c.8A>G (p.Asn3Ser) rs879573663 0.00006
NM_000551.4(VHL):c.-55del rs1361905543 0.00005
NM_001430.5(EPAS1):c.*117T>A rs886056089 0.00005
NM_001430.5(EPAS1):c.*1790G>A rs532892029 0.00005
NM_022051.3(EGLN1):c.325A>G (p.Lys109Glu) rs891489163 0.00005
NM_022051.3(EGLN1):c.575A>G (p.Lys192Arg) rs75538505 0.00005
NM_000121.4(EPOR):c.-25G>A rs1368665202 0.00004
NM_000551.4(VHL):c.167C>G (p.Ala56Gly) rs752980085 0.00004
NM_000551.4(VHL):c.556G>A (p.Glu186Lys) rs367545984 0.00004
NM_000551.4(VHL):c.631A>C (p.Met211Leu) rs200019083 0.00004
NM_001430.5(EPAS1):c.*1290C>T rs780890954 0.00004
NM_001430.5(EPAS1):c.*1305G>A rs78664136 0.00004
NM_001430.5(EPAS1):c.192G>T (p.Leu64=) rs750515166 0.00004
NM_001430.5(EPAS1):c.2365A>G (p.Ile789Val) rs749988999 0.00004
NM_001430.5(EPAS1):c.26+8G>A rs750007571 0.00004
NM_022051.2(EGLN1):c.-1517A>G rs750706558 0.00004
NM_022051.2(EGLN1):c.-1959G>A rs886046128 0.00004
NM_022051.3(EGLN1):c.1244A>G (p.Asn415Ser) rs748926816 0.00004
NM_000551.4(VHL):c.22T>C (p.Trp8Arg) rs1352171735 0.00003
NM_000551.4(VHL):c.274G>T (p.Asp92Tyr) rs587780731 0.00003
NM_000551.4(VHL):c.340+705G>A rs1411141967 0.00003
NM_000551.4(VHL):c.427G>C (p.Asp143His) rs372757722 0.00003
NM_000551.4(VHL):c.554A>G (p.Tyr185Cys) rs561874453 0.00003
NM_000551.4(VHL):c.614G>A (p.Arg205His) rs777130107 0.00003
NM_000551.4(VHL):c.628C>T (p.Arg210Trp) rs774380450 0.00003
NM_001430.5(EPAS1):c.*1182G>A rs967868215 0.00003
NM_001430.5(EPAS1):c.*150T>G rs769123299 0.00003
NM_001430.5(EPAS1):c.*1620G>C rs886056102 0.00003
NM_001430.5(EPAS1):c.*408T>C rs146764927 0.00003
NM_001430.5(EPAS1):c.-200A>C rs886056080 0.00003
NM_001430.5(EPAS1):c.1248C>T (p.Phe416=) rs761886735 0.00003
NM_022051.2(EGLN1):c.-2568G>T rs185603039 0.00003
NM_022051.3(EGLN1):c.*1010C>T rs886046100 0.00003
NM_022051.3(EGLN1):c.*1854T>G rs774937283 0.00003
NM_022051.3(EGLN1):c.*421A>G rs886046107 0.00003
NM_022051.3(EGLN1):c.*603C>A rs886046104 0.00003
NM_022051.3(EGLN1):c.763A>G (p.Lys255Glu) rs767916069 0.00003
NM_000551.4(VHL):c.14C>T (p.Ala5Val) rs755333116 0.00002
NM_000551.4(VHL):c.31G>C (p.Ala11Pro) rs1236604706 0.00002
NM_000551.4(VHL):c.323G>A (p.Arg108His) rs367594943 0.00002
NM_000551.4(VHL):c.439A>G (p.Ile147Val) rs1057517560 0.00002
NM_000551.4(VHL):c.526A>G (p.Arg176Gly) rs1575932259 0.00002
NM_000551.4(VHL):c.590A>C (p.Asp197Ala) rs752940316 0.00002
NM_000551.4(VHL):c.605C>T (p.Thr202Ile) rs779514074 0.00002
NM_000551.4(VHL):c.620C>T (p.Ala207Val) rs1060503549 0.00002
NM_000551.4(VHL):c.7C>T (p.Arg3Trp) rs878854130 0.00002
NM_001430.5(EPAS1):c.*898C>T rs577130920 0.00002
NM_001430.5(EPAS1):c.*90C>T rs151042657 0.00002
NM_001430.5(EPAS1):c.-92G>A rs957930899 0.00002
NM_001430.5(EPAS1):c.1281T>C (p.Tyr427=) rs947956425 0.00002
NM_001430.5(EPAS1):c.1960G>A (p.Val654Ile) rs375135104 0.00002
NM_022051.3(EGLN1):c.*2577G>C rs886046095 0.00002
NM_022051.3(EGLN1):c.*434T>G rs974916553 0.00002
NM_022051.3(EGLN1):c.*841C>T rs1042628099 0.00002
NM_022051.3(EGLN1):c.-111G>A rs886046113 0.00002
NM_022051.3(EGLN1):c.-46C>T rs899734016 0.00002
NM_022051.3(EGLN1):c.1216+6C>T rs376628693 0.00002
NM_022051.3(EGLN1):c.1273G>A (p.Val425Ile) rs1472408827 0.00002
NM_022051.3(EGLN1):c.319G>T (p.Ala107Ser) rs531081279 0.00002
NM_022051.3(EGLN1):c.350C>T (p.Pro117Leu) rs1050394369 0.00002
NM_022051.3(EGLN1):c.386C>T (p.Ala129Val) rs1380554913 0.00002
NM_022051.3(EGLN1):c.405C>T (p.Gly135=) rs781566823 0.00002
NM_022051.3(EGLN1):c.515C>T (p.Ala172Val) rs777466821 0.00002
NM_022051.3(EGLN1):c.522C>T (p.Ser174=) rs767045832 0.00002
NM_022051.3(EGLN1):c.917A>G (p.Asn306Ser) rs560996946 0.00002
NM_022051.3(EGLN1):c.934C>T (p.Arg312Cys) rs748814440 0.00002
NM_000121.4(EPOR):c.-68G>A rs886054194 0.00001
NM_000121.4(EPOR):c.116-10C>T rs1232303475 0.00001
NM_000121.4(EPOR):c.13G>A (p.Gly5Arg) rs781761386 0.00001
NM_000121.4(EPOR):c.1467T>C (p.Tyr489=) rs770608744 0.00001
NM_000121.4(EPOR):c.610G>C (p.Glu204Gln) rs776887278 0.00001
NM_000121.4(EPOR):c.861G>A (p.Pro287=) rs369085901 0.00001
NM_000121.4(EPOR):c.980C>T (p.Pro327Leu) rs776698147 0.00001
NM_000518.4(HBB):c.371C>A (p.Thr124Asn) rs33935383 0.00001
NM_000518.4(HBB):c.44T>C (p.Leu15Pro) rs33935445 0.00001
NM_000518.5(HBB):c.*62A>G rs1046868746 0.00001
NM_000518.5(HBB):c.-100G>A rs281864524 0.00001
NM_000518.5(HBB):c.123G>T (p.Arg41Ser) rs33918778 0.00001
NM_000551.4(VHL):c.111G>C (p.Glu37Asp) rs1398333169 0.00001
NM_000551.4(VHL):c.116G>A (p.Gly39Asp) rs368473853 0.00001
NM_000551.4(VHL):c.118C>T (p.Pro40Ser) rs776399733 0.00001
NM_000551.4(VHL):c.124G>A (p.Glu42Lys) rs1696122809 0.00001
NM_000551.4(VHL):c.139G>A (p.Glu47Lys) rs1457039250 0.00001
NM_000551.4(VHL):c.143T>G (p.Leu48Arg) rs199959170 0.00001
NM_000551.4(VHL):c.172C>T (p.Arg58Trp) rs757781272 0.00001
NM_000551.4(VHL):c.182C>T (p.Pro61Leu) rs746582207 0.00001
NM_000551.4(VHL):c.184G>C (p.Val62Leu) rs747861291 0.00001
NM_000551.4(VHL):c.1A>T (p.Met1Leu) rs1060503557 0.00001
NM_000551.4(VHL):c.205C>G (p.Arg69Gly) rs1428175816 0.00001
NM_000551.4(VHL):c.21C>A (p.Asn7Lys) rs1060503561 0.00001
NM_000551.4(VHL):c.228C>G (p.Phe76Leu) rs1575921940 0.00001
NM_000551.4(VHL):c.235C>T (p.Arg79Cys) rs200885420 0.00001
NM_000551.4(VHL):c.247G>C (p.Val83Leu) rs751042065 0.00001
NM_000551.4(VHL):c.275A>T (p.Asp92Val) rs749091984 0.00001
NM_000551.4(VHL):c.284C>T (p.Pro95Leu) rs964996401 0.00001
NM_000551.4(VHL):c.289C>T (p.Pro97Ser) rs863224688 0.00001
NM_000551.4(VHL):c.295C>G (p.Pro99Ala) rs549807529 0.00001
NM_000551.4(VHL):c.298A>G (p.Thr100Ala) rs745901803 0.00001
NM_000551.4(VHL):c.305C>T (p.Pro102Leu) rs1379270197 0.00001
NM_000551.4(VHL):c.338G>C (p.Arg113Pro) rs767062290 0.00001
NM_000551.4(VHL):c.340+581A>G rs968298760 0.00001
NM_000551.4(VHL):c.340+594G>T rs1235225768 0.00001
NM_000551.4(VHL):c.340+615C>T rs961184868 0.00001
NM_000551.4(VHL):c.340+618T>G rs1379155896 0.00001
NM_000551.4(VHL):c.340+638C>G rs973712723 0.00001
NM_000551.4(VHL):c.340+685T>A rs1696160690 0.00001
NM_000551.4(VHL):c.340+700C>G rs778132298 0.00001
NM_000551.4(VHL):c.340+752G>A rs1696163031 0.00001
NM_000551.4(VHL):c.340+805C>G rs1696164445 0.00001
NM_000551.4(VHL):c.340+812G>C rs1696164675 0.00001
NM_000551.4(VHL):c.340+816A>C rs1031288121 0.00001
NM_000551.4(VHL):c.340+825C>T rs1156980093 0.00001
NM_000551.4(VHL):c.340+828A>G rs570619659 0.00001
NM_000551.4(VHL):c.340+829C>T rs907291243 0.00001
NM_000551.4(VHL):c.341-25_370dup rs1553619923 0.00001
NM_000551.4(VHL):c.341-8C>G rs1272767361 0.00001
NM_000551.4(VHL):c.34G>C (p.Glu12Gln) rs1064794788 0.00001
NM_000551.4(VHL):c.373C>T (p.His125Tyr) rs375401722 0.00001
NM_000551.4(VHL):c.37G>A (p.Val13Ile) rs919338576 0.00001
NM_000551.4(VHL):c.38T>G (p.Val13Gly) rs1553619289 0.00001
NM_000551.4(VHL):c.408T>G (p.Phe136Leu) rs878854125 0.00001
NM_000551.4(VHL):c.40G>C (p.Gly14Arg) rs1060503559 0.00001
NM_000551.4(VHL):c.413C>T (p.Pro138Leu) rs780178275 0.00001
NM_000551.4(VHL):c.416C>G (p.Ser139Cys) rs587780732 0.00001
NM_000551.4(VHL):c.440T>C (p.Ile147Thr) rs1060503555 0.00001
NM_000551.4(VHL):c.464-3C>T rs904414377 0.00001
NM_000551.4(VHL):c.46G>C (p.Glu16Gln) rs1060503556 0.00001
NM_000551.4(VHL):c.4C>G (p.Pro2Ala) rs1034974221 0.00001
NM_000551.4(VHL):c.4C>T (p.Pro2Ser) rs1034974221 0.00001
NM_000551.4(VHL):c.513G>T (p.Lys171Asn) rs1365445365 0.00001
NM_000551.4(VHL):c.528G>T (p.Arg176Ser) rs762748790 0.00001
NM_000551.4(VHL):c.538A>G (p.Ile180Val) rs377715747 0.00001
NM_000551.4(VHL):c.544A>G (p.Arg182Gly) rs778205243 0.00001
NM_000551.4(VHL):c.548C>T (p.Ser183Leu) rs5030823 0.00001
NM_000551.4(VHL):c.553T>A (p.Tyr185Asn) rs768390987 0.00001
NM_000551.4(VHL):c.565G>A (p.Glu189Lys) rs762790375 0.00001
NM_000551.4(VHL):c.578A>G (p.Asn193Ser) rs879254225 0.00001
NM_000551.4(VHL):c.596A>C (p.Glu199Ala) rs760690217 0.00001
NM_000551.4(VHL):c.599G>A (p.Arg200Gln) rs754016774 0.00001
NM_000551.4(VHL):c.608A>G (p.Gln203Arg) rs1270568049 0.00001
NM_000551.4(VHL):c.634G>T (p.Gly212Ter) rs1553620389 0.00001
NM_000551.4(VHL):c.637G>C (p.Asp213His) rs1696367993 0.00001
NM_000551.4(VHL):c.71G>A (p.Gly24Asp) rs878854129 0.00001
NM_000551.4(VHL):c.73C>G (p.Pro25Ala) rs745338799 0.00001
NM_000551.4(VHL):c.88G>A (p.Gly30Arg) rs913104799 0.00001
NM_000551.4(VHL):c.8G>C (p.Arg3Pro) rs1178481595 0.00001
NM_000551.4(VHL):c.93G>C (p.Glu31Asp) rs1438911242 0.00001
NM_000551.4(VHL):c.95A>G (p.Glu32Gly) rs786203104 0.00001
NM_000551.4(VHL):c.98C>A (p.Ser33Ter) rs1476994915 0.00001
NM_000551.4(VHL):c.98C>T (p.Ser33Leu) rs1476994915 0.00001
NM_001430.5(EPAS1):c.*1729T>C rs540325300 0.00001
NM_001430.5(EPAS1):c.*486C>T rs886056090 0.00001
NM_001430.5(EPAS1):c.-452A>C rs886056076 0.00001
NM_001430.5(EPAS1):c.-86C>T rs886056083 0.00001
NM_001430.5(EPAS1):c.1821C>T (p.Ile607=) rs999859536 0.00001
NM_001430.5(EPAS1):c.2474G>A (p.Arg825Gln) rs374829070 0.00001
NM_001430.5(EPAS1):c.882G>C (p.Gln294His) rs769949241 0.00001
NM_022051.2(EGLN1):c.-1159T>C rs1273579470 0.00001
NM_022051.2(EGLN1):c.-1305A>C rs1656707976 0.00001
NM_022051.2(EGLN1):c.-2340A>G rs886046130 0.00001
NM_022051.2(EGLN1):c.-2567C>T rs193048016 0.00001
NM_022051.2(EGLN1):c.-2695A>G rs886046132 0.00001
NM_022051.2(EGLN1):c.-2762C>T rs886046133 0.00001
NM_022051.2(EGLN1):c.-2767G>A rs886046134 0.00001
NM_022051.2(EGLN1):c.-565C>A rs886046120 0.00001
NM_022051.2(EGLN1):c.-694C>T rs886046122 0.00001
NM_022051.2(EGLN1):c.-720C>T rs886046123 0.00001
NM_022051.2(EGLN1):c.-766T>C rs1656688727 0.00001
NM_022051.2(EGLN1):c.-797C>G rs886046124 0.00001
NM_022051.3(EGLN1):c.*1326T>C rs1315144793 0.00001
NM_022051.3(EGLN1):c.*2491C>T rs1333130258 0.00001
NM_022051.3(EGLN1):c.*650A>T rs1489752896 0.00001
NM_022051.3(EGLN1):c.*796C>A rs886046103 0.00001
NM_022051.3(EGLN1):c.*798C>T rs886046102 0.00001
NM_022051.3(EGLN1):c.*944C>T rs886046101 0.00001
NM_022051.3(EGLN1):c.-140C>T rs886046114 0.00001
NM_022051.3(EGLN1):c.103C>G (p.Arg35Gly) rs778100040 0.00001
NM_022051.3(EGLN1):c.1234G>A (p.Val412Ile) rs768347513 0.00001
NM_022051.3(EGLN1):c.1264G>A (p.Gly422Ser) rs753505082 0.00001
NM_022051.3(EGLN1):c.190G>A (p.Ala64Thr) rs776333127 0.00001
NM_022051.3(EGLN1):c.202G>C (p.Gly68Arg) rs763530007 0.00001
NM_022051.3(EGLN1):c.245C>T (p.Ala82Val) rs771498926 0.00001
NM_022051.3(EGLN1):c.261G>C (p.Arg87Ser) rs1024909187 0.00001
NM_022051.3(EGLN1):c.272G>A (p.Arg91Gln) rs1180795317 0.00001
NM_022051.3(EGLN1):c.32C>T (p.Pro11Leu) rs1198122970 0.00001
NM_022051.3(EGLN1):c.345G>T (p.Lys115Asn) rs1307321781 0.00001
NM_022051.3(EGLN1):c.371C>T (p.Ala124Val) rs972861708 0.00001
NM_022051.3(EGLN1):c.445C>A (p.Pro149Thr) rs374893731 0.00001
NM_022051.3(EGLN1):c.491C>T (p.Pro164Leu) rs770213782 0.00001
NM_022051.3(EGLN1):c.634G>A (p.Asp212Asn) rs376247953 0.00001
NM_022051.3(EGLN1):c.833A>G (p.Asp278Gly) rs753303580 0.00001
NM_022051.3(EGLN1):c.867C>G (p.Ser289Arg) rs763045676 0.00001
NM_022051.3(EGLN1):c.925G>T (p.Gly309Cys) rs774056264 0.00001
NM_022051.3(EGLN1):c.95G>A (p.Arg32His) rs867477927 0.00001
NC_000001.10:g.(?_231502157)_(231557634_?)dup
NC_000003.11:g.(?_10094061)_(10191659_?)dup
NC_000003.11:g.(?_10103825)_(10184708_?)dup
NC_000003.11:g.(?_10106403)_(10191659_?)dup
NC_000003.11:g.(?_10183471)_(10191719_?)dup
NC_000003.11:g.(?_10183522)_(10188330_?)dup
NC_000003.11:g.(?_10183526)_(10191655_?)dup
NC_000003.11:g.(?_10183532)_(10184708_?)dup
NC_000003.11:g.(?_10183532)_(10188330_?)dup
NC_000003.11:g.(?_10188188)_(10188330_?)dup
NC_000003.11:g.(?_10191461)_(10191659_?)dup
NC_000003.11:g.(?_10191461)_(10191719_?)dup
NC_000003.11:g.(?_10191471)_(10195354_?)dup
NC_000003.12:g.(?_10052377)_(10150035_?)dup
NC_000003.12:g.(?_10064719)_(10150035_?)dup
NC_000003.12:g.(?_10141848)_(10142197_?)dup
NC_000003.12:g.(?_10141848)_(10150035_?)dup
NC_000003.12:g.(?_10146504)_(10149975_?)dup
NC_000003.12:g.10141762_10141816del
NM_000121.4(EPOR):c.*186_*187dup rs528356712
NM_000121.4(EPOR):c.*619C>T rs886054191
NM_000121.4(EPOR):c.*776A>G rs553452571
NM_000121.4(EPOR):c.-8G>T rs886054193
NM_000121.4(EPOR):c.-9G>A rs1358532565
NM_000121.4(EPOR):c.1287G>A (p.Leu429=) rs1968309037
NM_000121.4(EPOR):c.1362C>G (p.Tyr454Ter)
NM_000121.4(EPOR):c.335C>T (p.Ala112Val) rs373833534
NM_000121.4(EPOR):c.388G>A (p.Ala130Thr) rs750556052
NM_000121.4(EPOR):c.499C>T (p.Leu167Phe)
NM_000121.4(EPOR):c.558C>A (p.Ala186=) rs377322757
NM_000121.4(EPOR):c.559G>T (p.Gly187Cys) rs775215856
NM_000121.4(EPOR):c.663C>T (p.Arg221=) rs747618605
NM_000121.4(EPOR):c.864C>T (p.Ser288=) rs886054192
NM_000121.4(EPOR):c.901A>G (p.Lys301Glu) rs1968317522
NM_000517.6(HBA2):c.-59C>T rs1277780626
NM_000517.6(HBA2):c.369C>G (p.His123Gln) rs41479347
NM_000517.6(HBA2):c.394T>C (p.Ser132Pro)
NM_000518.4(HBB):c.68A>T (p.Glu23Val) rs33936254
NM_000518.5(HBB):c.169G>A (p.Gly57Ser) rs33935983
NM_000518.5(HBB):c.316-3C>T rs33913413
NM_000518.5(HBB):c.421_422delinsAT (p.Ala141Ile)
NM_000551.4(VHL):c.*7C>G rs778005138
NM_000551.4(VHL):c.-39_-10del
NM_000551.4(VHL):c.-44G>A
NM_000551.4(VHL):c.-45C>A rs372483939
NM_000551.4(VHL):c.-45C>T
NM_000551.4(VHL):c.-48C>T
NM_000551.4(VHL):c.-49C>T
NM_000551.4(VHL):c.-51G>A
NM_000551.4(VHL):c.-61_-51dup rs727503743
NM_000551.4(VHL):c.-9_5dup (p.Ala5fs) rs730882038
NM_000551.4(VHL):c.103G>A (p.Ala35Thr) rs1405360663
NM_000551.4(VHL):c.103_117dup (p.Ala35_Gly39dup) rs1553619337
NM_000551.4(VHL):c.104C>A (p.Ala35Asp) rs587780536
NM_000551.4(VHL):c.104C>T (p.Ala35Val) rs587780536
NM_000551.4(VHL):c.106G>A (p.Glu36Lys) rs1696121268
NM_000551.4(VHL):c.106G>T (p.Glu36Ter) rs1696121268
NM_000551.4(VHL):c.107_114del (p.Glu36fs)
NM_000551.4(VHL):c.108_122dup (p.38_42SGPEE[3]) rs1340164546
NM_000551.4(VHL):c.109G>T (p.Glu37Ter) rs1338996432
NM_000551.4(VHL):c.10A>G (p.Arg4Gly) rs886057702
NM_000551.4(VHL):c.10_11delinsTT (p.Arg4Leu) rs1575920840
NM_000551.4(VHL):c.112_156del (p.Ser38_Glu52del) rs1575921303
NM_000551.4(VHL):c.112_156dup (p.Ser38_Glu52dup) rs1575921303
NM_000551.4(VHL):c.113C>T (p.Ser38Phe) rs867958699
NM_000551.4(VHL):c.115G>A (p.Gly39Ser) rs768650092
NM_000551.4(VHL):c.116G>C (p.Gly39Ala)
NM_000551.4(VHL):c.116G>T (p.Gly39Val) rs368473853
NM_000551.4(VHL):c.118C>A (p.Pro40Thr)
NM_000551.4(VHL):c.118C>G (p.Pro40Ala) rs776399733
NM_000551.4(VHL):c.119C>A (p.Pro40Gln)
NM_000551.4(VHL):c.119C>G (p.Pro40Arg) rs200343185
NM_000551.4(VHL):c.11G>T (p.Arg4Met) rs886057703
NM_000551.4(VHL):c.121G>A (p.Glu41Lys) rs1475252559
NM_000551.4(VHL):c.122A>C (p.Glu41Ala)
NM_000551.4(VHL):c.122A>G (p.Glu41Gly)
NM_000551.4(VHL):c.122A>T (p.Glu41Val) rs1696122750
NM_000551.4(VHL):c.123_137del (p.38SGPEE[1]) rs863224839
NM_000551.4(VHL):c.123_137dup (p.38SGPEE[3]) rs863224839
NM_000551.4(VHL):c.124G>C (p.Glu42Gln) rs1696122809
NM_000551.4(VHL):c.125A>C (p.Glu42Ala) rs1064796244
NM_000551.4(VHL):c.125A>G (p.Glu42Gly) rs1064796244
NM_000551.4(VHL):c.127T>C (p.Ser43Pro) rs1696123001
NM_000551.4(VHL):c.128C>G (p.Ser43Cys) rs202164771
NM_000551.4(VHL):c.130G>A (p.Gly44Ser) rs1575921446
NM_000551.4(VHL):c.130G>C (p.Gly44Arg) rs1575921446
NM_000551.4(VHL):c.130G>T (p.Gly44Cys)
NM_000551.4(VHL):c.131G>A (p.Gly44Asp) rs1056226386
NM_000551.4(VHL):c.131G>C (p.Gly44Ala) rs1056226386
NM_000551.4(VHL):c.131G>T (p.Gly44Val) rs1056226386
NM_000551.4(VHL):c.133C>G (p.Pro45Ala) rs1575921452
NM_000551.4(VHL):c.133C>T (p.Pro45Ser)
NM_000551.4(VHL):c.134C>T (p.Pro45Leu) rs199583685
NM_000551.4(VHL):c.137A>C (p.Glu46Ala)
NM_000551.4(VHL):c.138G>T (p.Glu46Asp)
NM_000551.4(VHL):c.138_160del (p.Glu46fs) rs1209079089
NM_000551.4(VHL):c.139G>T (p.Glu47Ter) rs1457039250
NM_000551.4(VHL):c.13G>A (p.Ala5Thr)
NM_000551.4(VHL):c.13G>C (p.Ala5Pro) rs1559425498
NM_000551.4(VHL):c.13G>T (p.Ala5Ser) rs1559425498
NM_000551.4(VHL):c.142C>A (p.Leu48Met)
NM_000551.4(VHL):c.143T>A (p.Leu48Gln) rs199959170
NM_000551.4(VHL):c.145G>C (p.Gly49Arg) rs1696124265
NM_000551.4(VHL):c.146G>A (p.Gly49Asp) rs1252338161
NM_000551.4(VHL):c.146G>T (p.Gly49Val) rs1252338161
NM_000551.4(VHL):c.148G>A (p.Ala50Thr) rs1696124466
NM_000551.4(VHL):c.148G>C (p.Ala50Pro) rs1696124466
NM_000551.4(VHL):c.149C>G (p.Ala50Gly) rs766576246
NM_000551.4(VHL):c.149C>T (p.Ala50Val) rs766576246
NM_000551.4(VHL):c.151G>A (p.Glu51Lys) rs1480825246
NM_000551.4(VHL):c.151G>C (p.Glu51Gln) rs1480825246
NM_000551.4(VHL):c.151GAG[2] (p.Glu53del)
NM_000551.4(VHL):c.154G>T (p.Glu52Ter) rs373068386
NM_000551.4(VHL):c.158A>G (p.Glu53Gly) rs2125124854
NM_000551.4(VHL):c.159G>C (p.Glu53Asp) rs1553619385
NM_000551.4(VHL):c.163G>C (p.Glu55Gln) rs2125124873
NM_000551.4(VHL):c.164A>G (p.Glu55Gly) rs1328776664
NM_000551.4(VHL):c.164A>T (p.Glu55Val)
NM_000551.4(VHL):c.165G>T (p.Glu55Asp)
NM_000551.4(VHL):c.166G>A (p.Ala56Thr)
NM_000551.4(VHL):c.167C>T (p.Ala56Val) rs752980085
NM_000551.4(VHL):c.169G>A (p.Gly57Arg) rs1064795194
NM_000551.4(VHL):c.169G>C (p.Gly57Arg) rs1064795194
NM_000551.4(VHL):c.169G>T (p.Gly57Trp) rs1064795194
NM_000551.4(VHL):c.16G>C (p.Glu6Gln)
NM_000551.4(VHL):c.16G>T (p.Glu6Ter) rs545406510
NM_000551.4(VHL):c.170G>C (p.Gly57Ala) rs764755691
NM_000551.4(VHL):c.173G>A (p.Arg58Gln) rs1553619400
NM_000551.4(VHL):c.175C>T (p.Pro59Ser) rs876659041
NM_000551.4(VHL):c.176C>A (p.Pro59Gln) rs1696126408
NM_000551.4(VHL):c.176C>T (p.Pro59Leu)
NM_000551.4(VHL):c.178C>G (p.Arg60Gly) rs1035077469
NM_000551.4(VHL):c.178C>T (p.Arg60Trp) rs1035077469
NM_000551.4(VHL):c.179G>C (p.Arg60Pro) rs1696126647
NM_000551.4(VHL):c.179G>T (p.Arg60Leu) rs1696126647
NM_000551.4(VHL):c.17A>C (p.Glu6Ala) rs1696114029
NM_000551.4(VHL):c.181C>G (p.Pro61Ala) rs113612866
NM_000551.4(VHL):c.181C>T (p.Pro61Ser) rs113612866
NM_000551.4(VHL):c.182C>G (p.Pro61Arg) rs746582207
NM_000551.4(VHL):c.184G>A (p.Val62Met) rs747861291
NM_000551.4(VHL):c.185T>A (p.Val62Glu) rs1696127941
NM_000551.4(VHL):c.185T>C (p.Val62Ala) rs1696127941
NM_000551.4(VHL):c.188T>C (p.Leu63Pro) rs104893827
NM_000551.4(VHL):c.18G>C (p.Glu6Asp)
NM_000551.4(VHL):c.18G>T (p.Glu6Asp) rs1004620245
NM_000551.4(VHL):c.191G>A (p.Arg64His) rs104893826
NM_000551.4(VHL):c.199A>C (p.Asn67His) rs1064794129
NM_000551.4(VHL):c.1A>G (p.Met1Val) rs1060503557
NM_000551.4(VHL):c.200A>C (p.Asn67Thr)
NM_000551.4(VHL):c.200A>G (p.Asn67Ser)
NM_000551.4(VHL):c.201C>G (p.Asn67Lys)
NM_000551.4(VHL):c.205C>T (p.Arg69Cys) rs1428175816
NM_000551.4(VHL):c.206G>T (p.Arg69Leu) rs1171336955
NM_000551.4(VHL):c.209A>C (p.Glu70Ala)
NM_000551.4(VHL):c.209A>G (p.Glu70Gly) rs786202857
NM_000551.4(VHL):c.20A>C (p.Asn7Thr) rs1575920892
NM_000551.4(VHL):c.20A>G (p.Asn7Ser) rs1575920892
NM_000551.4(VHL):c.20A>T (p.Asn7Ile) rs1575920892
NM_000551.4(VHL):c.210G>T (p.Glu70Asp) rs1553619417
NM_000551.4(VHL):c.211C>T (p.Pro71Ser) rs1696129801
NM_000551.4(VHL):c.215C>T (p.Ser72Phe) rs962558566
NM_000551.4(VHL):c.217C>G (p.Gln73Glu) rs869025619
NM_000551.4(VHL):c.218A>G (p.Gln73Arg) rs1295818809
NM_000551.4(VHL):c.218A>T (p.Gln73Leu) rs1295818809
NM_000551.4(VHL):c.219G>C (p.Gln73His) rs1575921862
NM_000551.4(VHL):c.21C>G (p.Asn7Lys) rs1060503561
NM_000551.4(VHL):c.220G>C (p.Val74Leu) rs2125125032
NM_000551.4(VHL):c.221T>C (p.Val74Ala) rs5030803
NM_000551.4(VHL):c.223A>C (p.Ile75Leu) rs1060503554
NM_000551.4(VHL):c.223A>G (p.Ile75Val) rs1060503554
NM_000551.4(VHL):c.225C>G (p.Ile75Met) rs768104793
NM_000551.4(VHL):c.227T>G (p.Phe76Cys) rs730882033
NM_000551.4(VHL):c.229T>C (p.Cys77Arg) rs1269136170
NM_000551.4(VHL):c.22T>G (p.Trp8Gly) rs1352171735
NM_000551.4(VHL):c.22_27dup (p.Trp8_Asp9dup) rs1696114336
NM_000551.4(VHL):c.230G>A (p.Cys77Tyr)
NM_000551.4(VHL):c.230G>C (p.Cys77Ser) rs1696131797
NM_000551.4(VHL):c.230G>T (p.Cys77Phe)
NM_000551.4(VHL):c.235C>A (p.Arg79Ser)
NM_000551.4(VHL):c.235C>G (p.Arg79Gly) rs200885420
NM_000551.4(VHL):c.236G>T (p.Arg79Leu)
NM_000551.4(VHL):c.238_246del (p.Ser80_Arg82del) rs1696132295
NM_000551.4(VHL):c.23G>A (p.Trp8Ter) rs1060503551
NM_000551.4(VHL):c.23G>T (p.Trp8Leu) rs1060503551
NM_000551.4(VHL):c.241C>G (p.Pro81Ala) rs104893829
NM_000551.4(VHL):c.244C>T (p.Arg82Cys) rs1214305423
NM_000551.4(VHL):c.247G>A (p.Val83Ile)
NM_000551.4(VHL):c.251T>C (p.Val84Ala) rs1264207864
NM_000551.4(VHL):c.253C>G (p.Leu85Val) rs1422271977
NM_000551.4(VHL):c.254T>C (p.Leu85Pro) rs5030828
NM_000551.4(VHL):c.259G>A (p.Val87Ile)
NM_000551.4(VHL):c.25G>C (p.Asp9His) rs587780730
NM_000551.4(VHL):c.269A>C (p.Asn90Thr) rs143985153
NM_000551.4(VHL):c.269A>G (p.Asn90Ser) rs143985153
NM_000551.4(VHL):c.26A>C (p.Asp9Ala) rs1060503560
NM_000551.4(VHL):c.26A>G (p.Asp9Gly) rs1060503560
NM_000551.4(VHL):c.26A>T (p.Asp9Val)
NM_000551.4(VHL):c.273C>A (p.Phe91Leu) rs1060503563
NM_000551.4(VHL):c.274G>A (p.Asp92Asn) rs587780731
NM_000551.4(VHL):c.275A>C (p.Asp92Ala) rs749091984
NM_000551.4(VHL):c.276C>G (p.Asp92Glu) rs1442093467
NM_000551.4(VHL):c.277_294del (p.Gly93_Tyr98del) rs1559426059
NM_000551.4(VHL):c.279C>T (p.Gly93=) rs1696136079
NM_000551.4(VHL):c.27C>A (p.Asp9Glu) rs1017141110
NM_000551.4(VHL):c.27C>G (p.Asp9Glu) rs1017141110
NM_000551.4(VHL):c.280G>A (p.Glu94Lys) rs5030829
NM_000551.4(VHL):c.281A>T (p.Glu94Val)
NM_000551.4(VHL):c.282G>T (p.Glu94Asp)
NM_000551.4(VHL):c.283C>T (p.Pro95Ser) rs1376530057
NM_000551.4(VHL):c.286_288delinsACC (p.Gln96Thr) rs2125125241
NM_000551.4(VHL):c.288G>T (p.Gln96His) rs1553619446
NM_000551.4(VHL):c.289C>A (p.Pro97Thr) rs863224688
NM_000551.4(VHL):c.28G>C (p.Glu10Gln) rs1057519261
NM_000551.4(VHL):c.28G>T (p.Glu10Ter) rs1057519261
NM_000551.4(VHL):c.290C>T (p.Pro97Leu) rs2125125249
NM_000551.4(VHL):c.295C>A (p.Pro99Thr) rs549807529
NM_000551.4(VHL):c.296C>G (p.Pro99Arg) rs1553619452
NM_000551.4(VHL):c.298A>C (p.Thr100Pro) rs745901803
NM_000551.4(VHL):c.299C>T (p.Thr100Met) rs1346874866
NM_000551.4(VHL):c.29A>C (p.Glu10Ala)
NM_000551.4(VHL):c.29A>G (p.Glu10Gly) rs786204065
NM_000551.4(VHL):c.29A>T (p.Glu10Val) rs786204065
NM_000551.4(VHL):c.2T>A (p.Met1Lys)
NM_000551.4(VHL):c.304C>T (p.Pro102Ser) rs532018719
NM_000551.4(VHL):c.305C>A (p.Pro102Gln) rs1379270197
NM_000551.4(VHL):c.305C>G (p.Pro102Arg)
NM_000551.4(VHL):c.307C>G (p.Pro103Ala) rs864622267
NM_000551.4(VHL):c.307C>T (p.Pro103Ser)
NM_000551.4(VHL):c.30G>C (p.Glu10Asp) rs963501454
NM_000551.4(VHL):c.30G>T (p.Glu10Asp) rs963501454
NM_000551.4(VHL):c.311G>C (p.Gly104Ala) rs869025630
NM_000551.4(VHL):c.313A>G (p.Thr105Ala)
NM_000551.4(VHL):c.314C>T (p.Thr105Met) rs761240835
NM_000551.4(VHL):c.319CGC[1] (p.Arg108del) rs869191373
NM_000551.4(VHL):c.31G>T (p.Ala11Ser) rs1236604706
NM_000551.4(VHL):c.323G>T (p.Arg108Leu)
NM_000551.4(VHL):c.327C>G (p.Ile109Met) rs863224371
NM_000551.4(VHL):c.328C>A (p.His110Asn)
NM_000551.4(VHL):c.329A>G (p.His110Arg) rs2125125380
NM_000551.4(VHL):c.330C>G (p.His110Gln) rs1696140667
NM_000551.4(VHL):c.337C>G (p.Arg113Gly) rs5030810
NM_000551.4(VHL):c.339A>C (p.Arg113=)
NM_000551.4(VHL):c.339A>G (p.Arg113=) rs2125125416
NM_000551.4(VHL):c.33_38dup (p.Val13_Gly14insGluVal)
NM_000551.4(VHL):c.340+3A>G rs1575922597
NM_000551.4(VHL):c.340+4C>G
NM_000551.4(VHL):c.340+4C>T rs2125125426
NM_000551.4(VHL):c.340+575G>T rs2125125827
NM_000551.4(VHL):c.340+576T>C
NM_000551.4(VHL):c.340+576T>G
NM_000551.4(VHL):c.340+577C>T
NM_000551.4(VHL):c.340+581A>C rs968298760
NM_000551.4(VHL):c.340+583G>C rs2125125847
NM_000551.4(VHL):c.340+584A>T
NM_000551.4(VHL):c.340+587C>G rs1488349413
NM_000551.4(VHL):c.340+588C>A rs1696158160
NM_000551.4(VHL):c.340+589A>C rs2125125850
NM_000551.4(VHL):c.340+590G>C rs1696158201
NM_000551.4(VHL):c.340+591T>A
NM_000551.4(VHL):c.340+591T>C
NM_000551.4(VHL):c.340+592G>A rs1696158247
NM_000551.4(VHL):c.340+598G>A rs2125125857
NM_000551.4(VHL):c.340+599T>A
NM_000551.4(VHL):c.340+601C>T
NM_000551.4(VHL):c.340+603G>C
NM_000551.4(VHL):c.340+605G>A rs1696158642
NM_000551.4(VHL):c.340+605G>C rs1696158642
NM_000551.4(VHL):c.340+605G>T rs1696158642
NM_000551.4(VHL):c.340+606T>A
NM_000551.4(VHL):c.340+607A>G rs2125125866
NM_000551.4(VHL):c.340+608del rs1696158689
NM_000551.4(VHL):c.340+613T>C
NM_000551.4(VHL):c.340+613dup rs2125125871
NM_000551.4(VHL):c.340+614G>T rs2125125873
NM_000551.4(VHL):c.340+614del rs2125125876
NM_000551.4(VHL):c.340+615C>A rs961184868
NM_000551.4(VHL):c.340+617C>G rs1575923261
NM_000551.4(VHL):c.340+617C>T rs1575923261
NM_000551.4(VHL):c.340+619C>T rs1319443909
NM_000551.4(VHL):c.340+622G>A rs2125125888
NM_000551.4(VHL):c.340+623G>A rs2125125891
NM_000551.4(VHL):c.340+625G>A rs2125125893
NM_000551.4(VHL):c.340+627A>C rs1696159189
NM_000551.4(VHL):c.340+628C>T
NM_000551.4(VHL):c.340+629A>G
NM_000551.4(VHL):c.340+630C>T rs2125125896
NM_000551.4(VHL):c.340+630_340+631del rs1696159237
NM_000551.4(VHL):c.340+633del rs2125125902
NM_000551.4(VHL):c.340+634C>A rs1461514639
NM_000551.4(VHL):c.340+635C>T rs2125125908
NM_000551.4(VHL):c.340+637C>A rs1696159418
NM_000551.4(VHL):c.340+637C>T
NM_000551.4(VHL):c.340+638C>T rs973712723
NM_000551.4(VHL):c.340+641G>C rs1422221693
NM_000551.4(VHL):c.340+641_340+642insCTCC
NM_000551.4(VHL):c.340+643G>A rs1165627970
NM_000551.4(VHL):c.340+643G>T rs1165627970
NM_000551.4(VHL):c.340+647C>G rs929633840
NM_000551.4(VHL):c.340+649G>C rs1696159926
NM_000551.4(VHL):c.340+650A>C
NM_000551.4(VHL):c.340+650A>T rs2125125925
NM_000551.4(VHL):c.340+651C>T rs1251375973
NM_000551.4(VHL):c.340+652A>C rs1696160044
NM_000551.4(VHL):c.340+654A>G
NM_000551.4(VHL):c.340+655T>C rs2125125937
NM_000551.4(VHL):c.340+657C>G rs987014948
NM_000551.4(VHL):c.340+658A>G
NM_000551.4(VHL):c.340+663C>T rs1272443616
NM_000551.4(VHL):c.340+664A>G
NM_000551.4(VHL):c.340+665G>A rs1696160266
NM_000551.4(VHL):c.340+665G>C rs1696160266
NM_000551.4(VHL):c.340+666del rs2125125944
NM_000551.4(VHL):c.340+666dup
NM_000551.4(VHL):c.340+668A>G rs2125125949
NM_000551.4(VHL):c.340+668dup rs2125125946
NM_000551.4(VHL):c.340+669C>T rs2125125953
NM_000551.4(VHL):c.340+670A>G rs2125125958
NM_000551.4(VHL):c.340+672G>T rs1696160349
NM_000551.4(VHL):c.340+673C>G
NM_000551.4(VHL):c.340+674C>T rs1696160438
NM_000551.4(VHL):c.340+677G>A rs2125125965
NM_000551.4(VHL):c.340+681A>T rs1696160604
NM_000551.4(VHL):c.340+682T>C rs1696160646
NM_000551.4(VHL):c.340+687G>A rs2125125975
NM_000551.4(VHL):c.340+688C>G
NM_000551.4(VHL):c.340+689G>T
NM_000551.4(VHL):c.340+689del
NM_000551.4(VHL):c.340+690C>A
NM_000551.4(VHL):c.340+690C>T
NM_000551.4(VHL):c.340+691C>T rs1041395081
NM_000551.4(VHL):c.340+692G>A rs943884473
NM_000551.4(VHL):c.340+692G>C rs943884473
NM_000551.4(VHL):c.340+692G>T rs943884473
NM_000551.4(VHL):c.340+693G>A rs2125125987
NM_000551.4(VHL):c.340+693_340+698del rs1369151672
NM_000551.4(VHL):c.340+693del
NM_000551.4(VHL):c.340+694A>G rs1441240589
NM_000551.4(VHL):c.340+695_340+702dup rs1381868678
NM_000551.4(VHL):c.340+695del rs2125125992
NM_000551.4(VHL):c.340+696G>A rs1353527753
NM_000551.4(VHL):c.340+696G>T rs1353527753
NM_000551.4(VHL):c.340+6G>A rs1278726013
NM_000551.4(VHL):c.340+700C>A
NM_000551.4(VHL):c.340+700_340+701insCTTCC rs2125125995
NM_000551.4(VHL):c.340+701G>C rs1039517619
NM_000551.4(VHL):c.340+702_340+705del rs2125125997
NM_000551.4(VHL):c.340+702del
NM_000551.4(VHL):c.340+704C>T rs1696161517
NM_000551.4(VHL):c.340+705G>C rs1411141967
NM_000551.4(VHL):c.340+706T>A rs1696161617
NM_000551.4(VHL):c.340+706T>G rs1696161617
NM_000551.4(VHL):c.340+709G>T rs935892552
NM_000551.4(VHL):c.340+710T>C
NM_000551.4(VHL):c.340+710T>G rs2125126011
NM_000551.4(VHL):c.340+712G>T rs1696161869
NM_000551.4(VHL):c.340+713C>A rs1432659600
NM_000551.4(VHL):c.340+715T>G rs2125126018
NM_000551.4(VHL):c.340+716G>A rs1696162086
NM_000551.4(VHL):c.340+720A>G rs2125126022
NM_000551.4(VHL):c.340+722T>C rs1696162133
NM_000551.4(VHL):c.340+725A>G rs2125126029
NM_000551.4(VHL):c.340+726C>G rs1575923399
NM_000551.4(VHL):c.340+726C>T rs1575923399
NM_000551.4(VHL):c.340+728T>C rs1696162498
NM_000551.4(VHL):c.340+729A>C rs2125126034
NM_000551.4(VHL):c.340+730C>A rs548008573
NM_000551.4(VHL):c.340+731C>T
NM_000551.4(VHL):c.340+732T>G rs1696162641
NM_000551.4(VHL):c.340+733G>A rs2125126040
NM_000551.4(VHL):c.340+733G>C rs2125126040
NM_000551.4(VHL):c.340+733G>T rs2125126040
NM_000551.4(VHL):c.340+735C>G
NM_000551.4(VHL):c.340+735C>T
NM_000551.4(VHL):c.340+739T>G rs2125126047
NM_000551.4(VHL):c.340+742G>C rs186099278
NM_000551.4(VHL):c.340+744G>A
NM_000551.4(VHL):c.340+746T>C rs2125126051
NM_000551.4(VHL):c.340+746dup rs2125126052
NM_000551.4(VHL):c.340+747G>A rs2125126053
NM_000551.4(VHL):c.340+748G>A rs2125126056
NM_000551.4(VHL):c.340+750G>C rs751861959
NM_000551.4(VHL):c.340+751G>C
NM_000551.4(VHL):c.340+751G>T rs1696162976
NM_000551.4(VHL):c.340+753G>A rs2125126065
NM_000551.4(VHL):c.340+753G>C rs2125126065
NM_000551.4(VHL):c.340+753dup rs2125126061
NM_000551.4(VHL):c.340+754T>A
NM_000551.4(VHL):c.340+754T>C rs1696163085
NM_000551.4(VHL):c.340+755T>A rs1696163129
NM_000551.4(VHL):c.340+755del
NM_000551.4(VHL):c.340+756G>C rs1696163184
NM_000551.4(VHL):c.340+756G>T rs1696163184
NM_000551.4(VHL):c.340+757dup
NM_000551.4(VHL):c.340+758G>A rs2125126071
NM_000551.4(VHL):c.340+759G>A
NM_000551.4(VHL):c.340+760T>C rs1696163288
NM_000551.4(VHL):c.340+761T>C
NM_000551.4(VHL):c.340+762G>A rs1696163332
NM_000551.4(VHL):c.340+763T>C rs1696163399
NM_000551.4(VHL):c.340+766G>A
NM_000551.4(VHL):c.340+767G>C rs1696163478
NM_000551.4(VHL):c.340+770T>A rs1346312258
NM_000551.4(VHL):c.340+771C>T
NM_000551.4(VHL):c.340+777A>G rs2125126081
NM_000551.4(VHL):c.340+779G>A rs1696163737
NM_000551.4(VHL):c.340+779G>C rs1696163737
NM_000551.4(VHL):c.340+781G>A rs2125126088
NM_000551.4(VHL):c.340+784C>T rs1696163787
NM_000551.4(VHL):c.340+787C>A rs2125126091
NM_000551.4(VHL):c.340+787C>T rs2125126091
NM_000551.4(VHL):c.340+788C>G rs1282958900
NM_000551.4(VHL):c.340+789C>T rs1241756327
NM_000551.4(VHL):c.340+789del
NM_000551.4(VHL):c.340+790G>T rs527534541
NM_000551.4(VHL):c.340+793G>A rs2125126106
NM_000551.4(VHL):c.340+795A>G rs1696164115
NM_000551.4(VHL):c.340+795del
NM_000551.4(VHL):c.340+797G>C rs1696164222
NM_000551.4(VHL):c.340+797G>T rs1696164222
NM_000551.4(VHL):c.340+798A>C
NM_000551.4(VHL):c.340+799A>C
NM_000551.4(VHL):c.340+799AG[2] rs1312220751
NM_000551.4(VHL):c.340+804G>C rs1696164389
NM_000551.4(VHL):c.340+806A>T rs1696164489
NM_000551.4(VHL):c.340+808G>A rs1696164529
NM_000551.4(VHL):c.340+808_340+809dup rs2125126119
NM_000551.4(VHL):c.340+811G>A rs1174101376
NM_000551.4(VHL):c.340+811G>C rs1174101376
NM_000551.4(VHL):c.340+813A>G
NM_000551.4(VHL):c.340+813A>T rs2125126124
NM_000551.4(VHL):c.340+814G>A rs1696164726
NM_000551.4(VHL):c.340+814G>T rs1696164726
NM_000551.4(VHL):c.340+815T>G
NM_000551.4(VHL):c.340+815dup
NM_000551.4(VHL):c.340+818G>A rs960959316
NM_000551.4(VHL):c.340+818G>C
NM_000551.4(VHL):c.340+821C>T
NM_000551.4(VHL):c.340+822T>G rs2125126133
NM_000551.4(VHL):c.340+824G>A rs1349420435
NM_000551.4(VHL):c.340+825C>A rs1156980093
NM_000551.4(VHL):c.340+825C>G rs1156980093
NM_000551.4(VHL):c.340+825_340+834del rs2125126131
NM_000551.4(VHL):c.340+827A>G rs2125126136
NM_000551.4(VHL):c.340+828A>T rs570619659
NM_000551.4(VHL):c.340+830C>G rs1696165307
NM_000551.4(VHL):c.340+830C>T rs1696165307
NM_000551.4(VHL):c.340+831C>A rs1696165357
NM_000551.4(VHL):c.340+831C>G rs1696165357
NM_000551.4(VHL):c.340+831C>T rs1696165357
NM_000551.4(VHL):c.340+832T>C rs1696165411
NM_000551.4(VHL):c.340+832T>G rs1696165411
NM_000551.4(VHL):c.340+833A>G
NM_000551.4(VHL):c.340+834G>C
NM_000551.4(VHL):c.340+835G>A
NM_000551.4(VHL):c.340+837A>T rs190906863
NM_000551.4(VHL):c.341-12T>C
NM_000551.4(VHL):c.341-1_342dup rs1696260542
NM_000551.4(VHL):c.341-5G>T rs372340900
NM_000551.4(VHL):c.341-5_341-4delinsTT
NM_000551.4(VHL):c.341-5del rs2125128198
NM_000551.4(VHL):c.341-6C>A
NM_000551.4(VHL):c.341-6C>G rs191201783
NM_000551.4(VHL):c.341G>T (p.Gly114Val)
NM_000551.4(VHL):c.343C>A (p.His115Asn)
NM_000551.4(VHL):c.347T>G (p.Leu116Arg) rs879254230
NM_000551.4(VHL):c.34_35delinsTT (p.Glu12Leu) rs1696115662
NM_000551.4(VHL):c.356T>G (p.Phe119Cys) rs2125128254
NM_000551.4(VHL):c.35A>G (p.Glu12Gly) rs1380706798
NM_000551.4(VHL):c.364G>A (p.Ala122Thr) rs1064793291
NM_000551.4(VHL):c.364G>T (p.Ala122Ser) rs1064793291
NM_000551.4(VHL):c.365C>A (p.Ala122Glu)
NM_000551.4(VHL):c.365C>G (p.Ala122Gly) rs1696261924
NM_000551.4(VHL):c.365C>T (p.Ala122Val) rs1696261924
NM_000551.4(VHL):c.36G>C (p.Glu12Asp) rs973493604
NM_000551.4(VHL):c.376G>C (p.Asp126His) rs104893831
NM_000551.4(VHL):c.377_379dup (p.Asp126dup) rs1696262591
NM_000551.4(VHL):c.379_380insCAG (p.Asp126_Gly127insAla) rs1559428103
NM_000551.4(VHL):c.37G>C (p.Val13Leu) rs919338576
NM_000551.4(VHL):c.382C>T (p.Leu128Phe) rs1553619956
NM_000551.4(VHL):c.385C>G (p.Leu129Val) rs369018004
NM_000551.4(VHL):c.38T>C (p.Val13Ala) rs1553619289
NM_000551.4(VHL):c.38_52del (p.Val13_Glu17del) rs2125124488
NM_000551.4(VHL):c.38_52dup (p.Val13_Glu17dup) rs2125124488
NM_000551.4(VHL):c.398C>G (p.Thr133Ser)
NM_000551.4(VHL):c.398C>T (p.Thr133Ile) rs1060503565
NM_000551.4(VHL):c.3G>A (p.Met1Ile) rs578091032
NM_000551.4(VHL):c.3G>C (p.Met1Ile) rs578091032
NM_000551.4(VHL):c.3G>T (p.Met1Ile) rs578091032
NM_000551.4(VHL):c.409G>A (p.Val137Met)
NM_000551.4(VHL):c.40G>A (p.Gly14Ser) rs1060503559
NM_000551.4(VHL):c.415T>C (p.Ser139Pro) rs1696264596
NM_000551.4(VHL):c.416C>T (p.Ser139Phe) rs587780732
NM_000551.4(VHL):c.418C>G (p.Leu140Val) rs768637170
NM_000551.4(VHL):c.418C>T (p.Leu140Phe) rs768637170
NM_000551.4(VHL):c.41G>A (p.Gly14Asp) rs1575921044
NM_000551.4(VHL):c.421A>C (p.Asn141His) rs1696265107
NM_000551.4(VHL):c.421A>G (p.Asn141Asp) rs1696265107
NM_000551.4(VHL):c.422A>G (p.Asn141Ser) rs1064796570
NM_000551.4(VHL):c.425T>C (p.Val142Ala) rs1553619979
NM_000551.4(VHL):c.425T>G (p.Val142Gly)
NM_000551.4(VHL):c.42C>T (p.Gly14=) rs1696116574
NM_000551.4(VHL):c.42_46del (p.Ala15fs) rs1301210563
NM_000551.4(VHL):c.430G>A (p.Gly144Arg) rs869025650
NM_000551.4(VHL):c.430G>C (p.Gly144Arg) rs869025650
NM_000551.4(VHL):c.431G>A (p.Gly144Glu) rs2125128440
NM_000551.4(VHL):c.433C>A (p.Gln145Lys) rs749704215
NM_000551.4(VHL):c.433C>G (p.Gln145Glu) rs749704215
NM_000551.4(VHL):c.434A>G (p.Gln145Arg)
NM_000551.4(VHL):c.434A>T (p.Gln145Leu) rs864622313
NM_000551.4(VHL):c.435G>C (p.Gln145His) rs771727849
NM_000551.4(VHL):c.437C>G (p.Pro146Arg)
NM_000551.4(VHL):c.437C>T (p.Pro146Leu) rs1575928079
NM_000551.4(VHL):c.43G>A (p.Ala15Thr) rs1060503568
NM_000551.4(VHL):c.442T>G (p.Phe148Val)
NM_000551.4(VHL):c.449A>G (p.Asn150Ser) rs760184234
NM_000551.4(VHL):c.44C>T (p.Ala15Val)
NM_000551.4(VHL):c.451A>G (p.Ile151Val) rs876659313
NM_000551.4(VHL):c.455C>T (p.Thr152Ile)
NM_000551.4(VHL):c.461C>G (p.Pro154Arg) rs1399097617
NM_000551.4(VHL):c.462A>G (p.Pro154=) rs1060503562
NM_000551.4(VHL):c.463+3A>C rs1131690954
NM_000551.4(VHL):c.463G>C (p.Val155Leu) rs869025659
NM_000551.4(VHL):c.464-9C>T rs1238907068
NM_000551.4(VHL):c.46G>T (p.Glu16Ter) rs1060503556
NM_000551.4(VHL):c.477_478insTCA (p.Lys159_Glu160insSer)
NM_000551.4(VHL):c.478G>A (p.Glu160Lys)
NM_000551.4(VHL):c.478G>C (p.Glu160Gln) rs1696354965
NM_000551.4(VHL):c.47A>C (p.Glu16Ala) rs864622379
NM_000551.4(VHL):c.47A>T (p.Glu16Val) rs864622379
NM_000551.4(VHL):c.48G>C (p.Glu16Asp) rs1057522140
NM_000551.4(VHL):c.493G>A (p.Val165Ile)
NM_000551.4(VHL):c.493G>T (p.Val165Phe) rs1575932103
NM_000551.4(VHL):c.494T>G (p.Val165Gly) rs1575932110
NM_000551.4(VHL):c.496G>A (p.Val166Ile) rs104893825
NM_000551.4(VHL):c.49G>A (p.Glu17Lys) rs1028898216
NM_000551.4(VHL):c.49G>T (p.Glu17Ter) rs1028898216
NM_000551.4(VHL):c.4C>A (p.Pro2Thr)
NM_000551.4(VHL):c.503G>A (p.Ser168Asn)
NM_000551.4(VHL):c.505C>G (p.Leu169Val)
NM_000551.4(VHL):c.506T>C (p.Leu169Pro) rs1131690962
NM_000551.4(VHL):c.508G>A (p.Val170Ile) rs1553620326
NM_000551.4(VHL):c.511A>G (p.Lys171Glu)
NM_000551.4(VHL):c.512A>G (p.Lys171Arg) rs1696358528
NM_000551.4(VHL):c.513G>C (p.Lys171Asn) rs1365445365
NM_000551.4(VHL):c.514C>T (p.Pro172Ser)
NM_000551.4(VHL):c.515C>G (p.Pro172Arg)
NM_000551.4(VHL):c.519G>C (p.Glu173Asp) rs1696359154
NM_000551.4(VHL):c.51G>T (p.Glu17Asp) rs2125124538
NM_000551.4(VHL):c.520A>T (p.Asn174Tyr) rs1060503566
NM_000551.4(VHL):c.521A>G (p.Asn174Ser) rs1575932235
NM_000551.4(VHL):c.524A>T (p.Tyr175Phe) rs193922613
NM_000551.4(VHL):c.52del (p.Ala18fs) rs1696117244
NM_000551.4(VHL):c.530G>C (p.Arg177Thr) rs1470394966
NM_000551.4(VHL):c.531A>T (p.Arg177Ser) rs766088261
NM_000551.4(VHL):c.532C>G (p.Leu178Val) rs755146587
NM_000551.4(VHL):c.535G>A (p.Asp179Asn) rs767780451
NM_000551.4(VHL):c.535G>C (p.Asp179His) rs767780451
NM_000551.4(VHL):c.538A>C (p.Ile180Leu)
NM_000551.4(VHL):c.53C>T (p.Ala18Val) rs1553619302
NM_000551.4(VHL):c.540C>G (p.Ile180Met) rs374927292
NM_000551.4(VHL):c.541G>A (p.Val181Ile) rs878854127
NM_000551.4(VHL):c.542T>C (p.Val181Ala) rs1553620340
NM_000551.4(VHL):c.545G>A (p.Arg182Lys) rs749774529
NM_000551.4(VHL):c.545G>C (p.Arg182Thr) rs749774529
NM_000551.4(VHL):c.545G>T (p.Arg182Met) rs749774529
NM_000551.4(VHL):c.548C>G (p.Ser183Trp) rs5030823
NM_000551.4(VHL):c.550C>G (p.Leu184Val) rs1696361913
NM_000551.4(VHL):c.553T>C (p.Tyr185His) rs768390987
NM_000551.4(VHL):c.554A>T (p.Tyr185Phe)
NM_000551.4(VHL):c.556G>C (p.Glu186Gln) rs367545984
NM_000551.4(VHL):c.558A>C (p.Glu186Asp) rs587778744
NM_000551.4(VHL):c.558_560del (p.Glu186del) rs1559429813
NM_000551.4(VHL):c.55G>C (p.Gly19Arg) rs1382387188
NM_000551.4(VHL):c.568_570dup (p.Asp190dup) rs1559429840
NM_000551.4(VHL):c.56G>T (p.Gly19Val) rs2125124549
NM_000551.4(VHL):c.571C>T (p.His191Tyr)
NM_000551.4(VHL):c.572A>C (p.His191Pro) rs370050374
NM_000551.4(VHL):c.572A>G (p.His191Arg) rs370050374
NM_000551.4(VHL):c.574C>A (p.Pro192Thr) rs28940300
NM_000551.4(VHL):c.574C>T (p.Pro192Ser) rs28940300
NM_000551.4(VHL):c.579T>A (p.Asn193Lys) rs1060503558
NM_000551.4(VHL):c.57del (p.Val20fs) rs1553619308
NM_000551.4(VHL):c.584A>C (p.Gln195Pro)
NM_000551.4(VHL):c.584A>G (p.Gln195Arg)
NM_000551.4(VHL):c.585G>C (p.Gln195His) rs878854128
NM_000551.4(VHL):c.586A>G (p.Lys196Glu) rs281860296
NM_000551.4(VHL):c.58G>C (p.Val20Leu)
NM_000551.4(VHL):c.592C>G (p.Leu198Val) rs1187217673
NM_000551.4(VHL):c.592_594del (p.Leu198del) rs2125130773
NM_000551.4(VHL):c.595G>A (p.Glu199Lys) rs1325187978
NM_000551.4(VHL):c.596A>G (p.Glu199Gly) rs760690217
NM_000551.4(VHL):c.596A>T (p.Glu199Val) rs760690217
NM_000551.4(VHL):c.59T>A (p.Val20Asp) rs929332564
NM_000551.4(VHL):c.59T>C (p.Val20Ala) rs929332564
NM_000551.4(VHL):c.5C>A (p.Pro2His)
NM_000551.4(VHL):c.5C>G (p.Pro2Arg) rs111246617
NM_000551.4(VHL):c.606dup (p.Gln203fs) rs1696365502
NM_000551.4(VHL):c.607C>A (p.Gln203Lys) rs750711842
NM_000551.4(VHL):c.607C>T (p.Gln203Ter) rs750711842
NM_000551.4(VHL):c.607_623del (p.Gln203fs)
NM_000551.4(VHL):c.610G>C (p.Glu204Gln) rs758853661
NM_000551.4(VHL):c.610G>T (p.Glu204Ter) rs758853661
NM_000551.4(VHL):c.613C>A (p.Arg205Ser) rs199926195
NM_000551.4(VHL):c.613C>G (p.Arg205Gly) rs199926195
NM_000551.4(VHL):c.613C>T (p.Arg205Cys) rs199926195
NM_000551.4(VHL):c.614G>C (p.Arg205Pro)
NM_000551.4(VHL):c.614G>T (p.Arg205Leu) rs777130107
NM_000551.4(VHL):c.614_615del (p.Arg205fs) rs730882030
NM_000551.4(VHL):c.616A>G (p.Ile206Val)
NM_000551.4(VHL):c.617_618delinsAG (p.Ile206Lys) rs1060503567
NM_000551.4(VHL):c.619G>A (p.Ala207Thr) rs1696366320
NM_000551.4(VHL):c.619_620delinsAA (p.Ala207Lys) rs2125130853
NM_000551.4(VHL):c.61G>A (p.Glu21Lys) rs2125124562
NM_000551.4(VHL):c.61G>C (p.Glu21Gln)
NM_000551.4(VHL):c.622C>G (p.His208Asp)
NM_000551.4(VHL):c.622C>T (p.His208Tyr) rs121913347
NM_000551.4(VHL):c.623A>G (p.His208Arg) rs1696366534
NM_000551.4(VHL):c.625C>G (p.Gln209Glu) rs1559429968
NM_000551.4(VHL):c.626A>G (p.Gln209Arg) rs770746627
NM_000551.4(VHL):c.627A>T (p.Gln209His) rs758494789
NM_000551.4(VHL):c.62A>C (p.Glu21Ala) rs1060503548
NM_000551.4(VHL):c.62A>T (p.Glu21Val) rs1060503548
NM_000551.4(VHL):c.630del (p.Met211fs) rs2125130871
NM_000551.4(VHL):c.632T>C (p.Met211Thr) rs1366708242
NM_000551.4(VHL):c.633G>A (p.Met211Ile)
NM_000551.4(VHL):c.634G>A (p.Gly212Arg) rs1553620389
NM_000551.4(VHL):c.638A>G (p.Asp213Gly) rs1553620394
NM_000551.4(VHL):c.639T>G (p.Asp213Glu)
NM_000551.4(VHL):c.639_642dup (p.Asp213_Ter214=) rs1696368069
NM_000551.4(VHL):c.64G>A (p.Glu22Lys) rs1696118115
NM_000551.4(VHL):c.65A>G (p.Glu22Gly) rs2125124570
NM_000551.4(VHL):c.67T>A (p.Tyr23Asn)
NM_000551.4(VHL):c.67T>C (p.Tyr23His) rs1696118253
NM_000551.4(VHL):c.67T>G (p.Tyr23Asp) rs1696118253
NM_000551.4(VHL):c.68A>G (p.Tyr23Cys)
NM_000551.4(VHL):c.69C>A (p.Tyr23Ter) rs1553619313
NM_000551.4(VHL):c.70G>A (p.Gly24Ser) rs1438223626
NM_000551.4(VHL):c.70G>C (p.Gly24Arg) rs1438223626
NM_000551.4(VHL):c.70G>T (p.Gly24Cys) rs1438223626
NM_000551.4(VHL):c.71G>T (p.Gly24Val) rs878854129
NM_000551.4(VHL):c.75_119del (p.Asp28_Glu42del)
NM_000551.4(VHL):c.76G>C (p.Glu26Gln)
NM_000551.4(VHL):c.77A>G (p.Glu26Gly)
NM_000551.4(VHL):c.7C>G (p.Arg3Gly) rs878854130
NM_000551.4(VHL):c.80A>C (p.Glu27Ala)
NM_000551.4(VHL):c.80A>G (p.Glu27Gly) rs2125124617
NM_000551.4(VHL):c.81A>C (p.Glu27Asp)
NM_000551.4(VHL):c.82G>A (p.Asp28Asn) rs1553619319
NM_000551.4(VHL):c.82G>C (p.Asp28His) rs1553619319
NM_000551.4(VHL):c.83A>T (p.Asp28Val) rs2125124629
NM_000551.4(VHL):c.83_100dup (p.Asp28_Ser33dup) rs1057517592
NM_000551.4(VHL):c.85G>A (p.Gly29Ser)
NM_000551.4(VHL):c.85G>C (p.Gly29Arg) rs1277221408
NM_000551.4(VHL):c.85G>T (p.Gly29Cys)
NM_000551.4(VHL):c.86G>C (p.Gly29Ala) rs1553619321
NM_000551.4(VHL):c.86_87delinsTT (p.Gly29Val) rs879254115
NM_000551.4(VHL):c.88G>C (p.Gly30Arg) rs913104799
NM_000551.4(VHL):c.88G>T (p.Gly30Trp) rs913104799
NM_000551.4(VHL):c.89G>C (p.Gly30Ala) rs1064793290
NM_000551.4(VHL):c.8G>A (p.Arg3Gln) rs1178481595
NM_000551.4(VHL):c.91G>T (p.Glu31Ter) rs1214275235
NM_000551.4(VHL):c.92A>G (p.Glu31Gly)
NM_000551.4(VHL):c.93_122dup (p.Ala35_Gly44dup) rs1696119887
NM_000551.4(VHL):c.94G>A (p.Glu32Lys)
NM_000551.4(VHL):c.97T>A (p.Ser33Thr) rs868726923
NM_000551.4(VHL):c.97T>G (p.Ser33Ala)
NM_000551.4(VHL):c.97del (p.Ser33fs) rs2125124691
NM_000551.4(VHL):c.99_113dup (p.Ala35_Gly39dup) rs1236159514
NM_000551.4(VHL):c.9_10insGCGG (p.Arg4fs) rs1559425474
NM_001430.5(EPAS1):c.*1134T>C rs886056100
NM_001430.5(EPAS1):c.*1373C>G rs112031193
NM_001430.5(EPAS1):c.*1611A>G rs571546536
NM_001430.5(EPAS1):c.*1898C>A rs1337410292
NM_001430.5(EPAS1):c.*1916C>A rs886056104
NM_001430.5(EPAS1):c.*1917G>A rs748689684
NM_001430.5(EPAS1):c.*285C>G rs1011091519
NM_001430.5(EPAS1):c.*537T>G rs1449426162
NM_001430.5(EPAS1):c.*540del rs75932330
NM_001430.5(EPAS1):c.*594A>G rs886056093
NM_001430.5(EPAS1):c.*680dup rs886056094
NM_001430.5(EPAS1):c.*715AG[1] rs886056096
NM_001430.5(EPAS1):c.*733C>G rs886056097
NM_001430.5(EPAS1):c.*983C>A rs886056099
NM_001430.5(EPAS1):c.-111G>C rs530436826
NM_001430.5(EPAS1):c.-138G>T rs886056081
NM_001430.5(EPAS1):c.-255G>T rs886056079
NM_001430.5(EPAS1):c.-401G>A rs1682903258
NM_001430.5(EPAS1):c.-472G>A rs886056075
NM_001430.5(EPAS1):c.1035-6del rs757409274
NM_001430.5(EPAS1):c.1203C>A (p.Ala401=) rs1254793733
NM_001430.5(EPAS1):c.1206G>A (p.Gln402=) rs749851497
NM_001430.5(EPAS1):c.1263C>T (p.Phe421=) rs142534349
NM_001430.5(EPAS1):c.1620C>A (p.Phe540Leu)
NM_001430.5(EPAS1):c.1635C>G (p.Ile545Met)
NM_001430.5(EPAS1):c.2009C>G (p.Pro670Arg)
NM_001430.5(EPAS1):c.2069G>A (p.Arg690Gln)
NM_001430.5(EPAS1):c.2107T>G (p.Ser703Ala) rs886056088
NM_001430.5(EPAS1):c.218-10_218-9insTC rs1553394835
NM_001430.5(EPAS1):c.218-11_218-10insG rs142684263
NM_001430.5(EPAS1):c.2342C>T (p.Pro781Leu)
NM_001430.5(EPAS1):c.2392A>G (p.Arg798Gly) rs541354758
NM_001430.5(EPAS1):c.241G>A (p.Ala81Thr)
NM_001430.5(EPAS1):c.2496G>C (p.Glu832Asp) rs183095352
NM_001430.5(EPAS1):c.587C>T (p.Thr196Met)
NM_001430.5(EPAS1):c.591C>A (p.Gly197=) rs1392533284
NM_001430.5(EPAS1):c.605A>G (p.Tyr202Cys)
NM_001430.5(EPAS1):c.826T>A (p.Ser276Thr)
NM_001430.5(EPAS1):c.861G>A (p.Glu287=) rs886056085
NM_004972.4(JAK2):c.1414A>G (p.Ser472Gly)
NM_005475.3(SH2B3):c.482C>T (p.Ala161Val)
NM_022051.2(EGLN1):c.-1519C>A rs1333217413
NM_022051.2(EGLN1):c.-1662_-1661delAC rs886046126
NM_022051.2(EGLN1):c.-1809A>G rs748537901
NM_022051.2(EGLN1):c.-1832G>A rs886046127
NM_022051.2(EGLN1):c.-1841A>G rs565638198
NM_022051.2(EGLN1):c.-2621G>C rs886046131
NM_022051.2(EGLN1):c.-2744T>C rs531866773
NM_022051.2(EGLN1):c.-423G>A rs1401812988
NM_022051.2(EGLN1):c.-506C>T rs943301519
NM_022051.2(EGLN1):c.-516A>C rs886046119
NM_022051.2(EGLN1):c.-550C>G rs1440287491
NM_022051.2(EGLN1):c.-593C>G rs1380469993
NM_022051.2(EGLN1):c.-615C>A rs867092704
NM_022051.2(EGLN1):c.-655G>A rs886046121
NM_022051.2(EGLN1):c.-928T>A rs182333595
NM_022051.3(EGLN1):c.*1410ATTTT[1] rs886046099
NM_022051.3(EGLN1):c.*1428_*1429del rs886046098
NM_022051.3(EGLN1):c.*1487C>T rs574739784
NM_022051.3(EGLN1):c.*1802_*1803dup rs541569859
NM_022051.3(EGLN1):c.*1825G>A rs1687590538
NM_022051.3(EGLN1):c.*2023A>G rs1687584190
NM_022051.3(EGLN1):c.*261_*263del rs886046108
NM_022051.3(EGLN1):c.*535T>G rs886046106
NM_022051.3(EGLN1):c.*555_*559del rs886046105
NM_022051.3(EGLN1):c.*68G>A
NM_022051.3(EGLN1):c.*92G>C
NM_022051.3(EGLN1):c.*934T>G rs1687618996
NM_022051.3(EGLN1):c.*972G>A rs867975663
NM_022051.3(EGLN1):c.-188A>C rs1656652896
NM_022051.3(EGLN1):c.-377G>A rs564650969
NM_022051.3(EGLN1):c.-386C>A rs886046115
NM_022051.3(EGLN1):c.1012G>C (p.Val338Leu) rs1687797398
NM_022051.3(EGLN1):c.1018G>A (p.Gly340Arg) rs2102894569
NM_022051.3(EGLN1):c.1022G>C (p.Gly341Ala)
NM_022051.3(EGLN1):c.1026A>G (p.Ile342Met) rs1156457644
NM_022051.3(EGLN1):c.103C>T (p.Arg35Cys)
NM_022051.3(EGLN1):c.104G>A (p.Arg35His)
NM_022051.3(EGLN1):c.104G>T (p.Arg35Leu)
NM_022051.3(EGLN1):c.1108C>T (p.Arg370Cys)
NM_022051.3(EGLN1):c.1132C>T (p.Pro378Ser)
NM_022051.3(EGLN1):c.116C>T (p.Ser39Phe)
NM_022051.3(EGLN1):c.1182T>A (p.Asp394Glu) rs1572014723
NM_022051.3(EGLN1):c.1193G>A (p.Arg398Gln)
NM_022051.3(EGLN1):c.1201G>A (p.Val401Ile) rs771491532
NM_022051.3(EGLN1):c.1208A>G (p.Tyr403Cys)
NM_022051.3(EGLN1):c.1217-10dup rs371155853
NM_022051.3(EGLN1):c.122_124del (p.Tyr41del) rs1182227189
NM_022051.3(EGLN1):c.1234dup (p.Val412fs)
NM_022051.3(EGLN1):c.1250C>T (p.Pro417Leu) rs1293477221
NM_022051.3(EGLN1):c.1265G>T (p.Gly422Val)
NM_022051.3(EGLN1):c.1279T>C (p.Ter427Gln) rs767020788
NM_022051.3(EGLN1):c.131A>G (p.Lys44Arg)
NM_022051.3(EGLN1):c.135G>T (p.Glu45Asp) rs2102948215
NM_022051.3(EGLN1):c.140A>G (p.Gln47Arg) rs73121547
NM_022051.3(EGLN1):c.154A>G (p.Lys52Glu)
NM_022051.3(EGLN1):c.15CGGCGGGCC[1] (p.6GGP[1])
NM_022051.3(EGLN1):c.15CGGCGGGCC[3] (p.Pro11_Ser12insGlyGlyPro)
NM_022051.3(EGLN1):c.164A>G (p.Lys55Arg)
NM_022051.3(EGLN1):c.179G>T (p.Gly60Val)
NM_022051.3(EGLN1):c.186G>C (p.Glu62Asp)
NM_022051.3(EGLN1):c.187G>A (p.Gly63Ser)
NM_022051.3(EGLN1):c.199C>T (p.His67Tyr)
NM_022051.3(EGLN1):c.202G>A (p.Gly68Arg)
NM_022051.3(EGLN1):c.204A>T (p.Gly68=) rs760247413
NM_022051.3(EGLN1):c.209G>A (p.Gly70Asp)
NM_022051.3(EGLN1):c.224C>G (p.Ser75Cys)
NM_022051.3(EGLN1):c.226G>A (p.Gly76Ser) rs1224937631
NM_022051.3(EGLN1):c.227G>T (p.Gly76Val)
NM_022051.3(EGLN1):c.229C>T (p.Pro77Ser) rs920027770
NM_022051.3(EGLN1):c.230C>T (p.Pro77Leu)
NM_022051.3(EGLN1):c.232G>A (p.Ala78Thr) rs1656619749
NM_022051.3(EGLN1):c.242C>G (p.Ala81Gly)
NM_022051.3(EGLN1):c.243_257dup (p.Pro86_Arg87insAlaValProProPro)
NM_022051.3(EGLN1):c.247G>A (p.Val83Met) rs1451855470
NM_022051.3(EGLN1):c.253C>G (p.Pro85Ala) rs886046111
NM_022051.3(EGLN1):c.256C>G (p.Pro86Ala) rs1487874168
NM_022051.3(EGLN1):c.259A>G (p.Arg87Gly) rs1167403455
NM_022051.3(EGLN1):c.263C>G (p.Ala88Gly)
NM_022051.3(EGLN1):c.271C>T (p.Arg91Trp)
NM_022051.3(EGLN1):c.275A>C (p.Glu92Ala)
NM_022051.3(EGLN1):c.277C>T (p.Pro93Ser)
NM_022051.3(EGLN1):c.295C>T (p.Arg99Cys) rs2102947932
NM_022051.3(EGLN1):c.305A>G (p.Asn102Ser)
NM_022051.3(EGLN1):c.313G>A (p.Gly105Arg)
NM_022051.3(EGLN1):c.329G>T (p.Gly110Val)
NM_022051.3(EGLN1):c.340G>A (p.Ala114Thr)
NM_022051.3(EGLN1):c.345G>C (p.Lys115Asn) rs1307321781
NM_022051.3(EGLN1):c.346C>A (p.Pro116Thr) rs944307657
NM_022051.3(EGLN1):c.347C>T (p.Pro116Leu)
NM_022051.3(EGLN1):c.349C>T (p.Pro117Ser)
NM_022051.3(EGLN1):c.352G>T (p.Ala118Ser) rs1656606563
NM_022051.3(EGLN1):c.353C>A (p.Ala118Asp) rs1357444347
NM_022051.3(EGLN1):c.362C>G (p.Ala121Gly) rs1312410428
NM_022051.3(EGLN1):c.366_389del (p.Ala124_Ala131del)
NM_022051.3(EGLN1):c.366_389dup (p.Ala124_Ala131dup) rs1470968362
NM_022051.3(EGLN1):c.37C>G (p.Pro13Ala)
NM_022051.3(EGLN1):c.382C>A (p.Arg128Ser) rs756094298
NM_022051.3(EGLN1):c.382C>G (p.Arg128Gly)
NM_022051.3(EGLN1):c.382C>T (p.Arg128Cys)
NM_022051.3(EGLN1):c.3G>T (p.Met1Ile) rs1308120626
NM_022051.3(EGLN1):c.404G>A (p.Gly135Asp) rs1176313181
NM_022051.3(EGLN1):c.413T>C (p.Val138Ala) rs1408448213
NM_022051.3(EGLN1):c.413T>G (p.Val138Gly)
NM_022051.3(EGLN1):c.415G>A (p.Ala139Thr)
NM_022051.3(EGLN1):c.416C>T (p.Ala139Val)
NM_022051.3(EGLN1):c.424G>A (p.Ala142Thr)
NM_022051.3(EGLN1):c.425C>G (p.Ala142Gly)
NM_022051.3(EGLN1):c.428A>T (p.Glu143Val)
NM_022051.3(EGLN1):c.430C>G (p.Pro144Ala)
NM_022051.3(EGLN1):c.432C>T (p.Pro144=) rs886046110
NM_022051.3(EGLN1):c.433G>C (p.Gly145Arg)
NM_022051.3(EGLN1):c.436A>C (p.Lys146Gln)
NM_022051.3(EGLN1):c.440A>G (p.Glu147Gly)
NM_022051.3(EGLN1):c.449C>T (p.Pro150Leu) rs758337994
NM_022051.3(EGLN1):c.454C>A (p.Arg152Ser) rs1200860908
NM_022051.3(EGLN1):c.454C>G (p.Arg152Gly)
NM_022051.3(EGLN1):c.454C>T (p.Arg152Cys)
NM_022051.3(EGLN1):c.458C>T (p.Ser153Leu)
NM_022051.3(EGLN1):c.472_474del (p.Glu158del)
NM_022051.3(EGLN1):c.477G>T (p.Lys159Asn) rs766985056
NM_022051.3(EGLN1):c.487T>G (p.Tyr163Asp)
NM_022051.3(EGLN1):c.490C>A (p.Pro164Thr) rs1407678909
NM_022051.3(EGLN1):c.490C>T (p.Pro164Ser)
NM_022051.3(EGLN1):c.493C>A (p.Pro165Thr)
NM_022051.3(EGLN1):c.493C>G (p.Pro165Ala) rs200502960
NM_022051.3(EGLN1):c.496A>G (p.Ser166Gly)
NM_022051.3(EGLN1):c.503C>T (p.Thr168Met)
NM_022051.3(EGLN1):c.508G>C (p.Gly170Arg)
NM_022051.3(EGLN1):c.520A>T (p.Ser174Cys)
NM_022051.3(EGLN1):c.530G>A (p.Gly177Asp)
NM_022051.3(EGLN1):c.538C>T (p.Arg180Trp)
NM_022051.3(EGLN1):c.53G>A (p.Arg18Gln) rs886046112
NM_022051.3(EGLN1):c.541C>T (p.Pro181Ser)
NM_022051.3(EGLN1):c.546C>G (p.Asn182Lys) rs1258825907
NM_022051.3(EGLN1):c.566C>T (p.Pro189Leu)
NM_022051.3(EGLN1):c.568_569delinsTT (p.Ala190Leu) rs1558086261
NM_022051.3(EGLN1):c.569C>G (p.Ala190Gly) rs769931960
NM_022051.3(EGLN1):c.595G>T (p.Val199Leu) rs2102947196
NM_022051.3(EGLN1):c.597G>C (p.Val199=) rs563998083
NM_022051.3(EGLN1):c.599C>G (p.Pro200Arg)
NM_022051.3(EGLN1):c.668_673dup (p.Asp224_Glu225insGlyAsp)
NM_022051.3(EGLN1):c.683C>G (p.Ala228Gly)
NM_022051.3(EGLN1):c.706A>G (p.Thr236Ala)
NM_022051.3(EGLN1):c.734G>A (p.Ser245Asn)
NM_022051.3(EGLN1):c.738C>G (p.Asp246Glu)
NM_022051.3(EGLN1):c.739T>G (p.Ser247Ala) rs886046109
NM_022051.3(EGLN1):c.740C>G (p.Ser247Trp)
NM_022051.3(EGLN1):c.791C>T (p.Pro264Leu)
NM_022051.3(EGLN1):c.806T>C (p.Ile269Thr)
NM_022051.3(EGLN1):c.817A>G (p.Met273Val) rs1266390455
NM_022051.3(EGLN1):c.824G>A (p.Ser275Asn)
NM_022051.3(EGLN1):c.825C>T (p.Ser275=) rs771660894
NM_022051.3(EGLN1):c.826A>G (p.Met276Val)
NM_022051.3(EGLN1):c.832G>T (p.Asp278Tyr)
NM_022051.3(EGLN1):c.840A>G (p.Ile280Met)
NM_022051.3(EGLN1):c.845A>G (p.His282Arg)
NM_022051.3(EGLN1):c.848G>C (p.Cys283Ser)
NM_022051.3(EGLN1):c.866G>T (p.Ser289Ile)
NM_022051.3(EGLN1):c.871A>G (p.Lys291Glu)
NM_022051.3(EGLN1):c.872A>G (p.Lys291Arg) rs1656572784
NM_022051.3(EGLN1):c.878A>G (p.Asn293Ser)
NM_022051.3(EGLN1):c.923C>T (p.Thr308Met)
NM_022051.3(EGLN1):c.973A>C (p.Thr325Pro)
NM_022051.3(EGLN1):c.975A>T (p.Thr325=) rs374733352
NM_022051.3(EGLN1):c.980T>C (p.Ile327Thr) rs2102898186
NM_022051.3(EGLN1):c.9T>G (p.Asn3Lys)

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