ClinVar Miner

List of variants studied for Chuvash polycythemia by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1320
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000551.3(VHL):c.-195G>A rs779805 0.56161
NM_000551.4(VHL):c.340+648T>C rs73024533 0.01009
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NM_000551.4(VHL):c.340+5G>C rs61758376 0.00190
NM_000551.3(VHL):c.-97T>G rs34271731 0.00106
NM_000551.4(VHL):c.-5A>C rs35793832 0.00106
NM_000551.4(VHL):c.150C>G (p.Ala50=) rs61751580 0.00070
NM_000551.4(VHL):c.183C>G (p.Pro61=) rs63650860 0.00067
NM_000551.4(VHL):c.340+578C>T rs139622356 0.00064
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00051
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_000551.4(VHL):c.340+679T>G rs866935879 0.00037
NM_000551.4(VHL):c.340+686_340+687del rs944477902 0.00037
NM_000551.4(VHL):c.341-6C>T rs191201783 0.00019
NM_000551.4(VHL):c.-64C>T rs772944298 0.00014
NM_000551.4(VHL):c.246C>T (p.Arg82=) rs587780993 0.00014
NM_000551.4(VHL):c.629G>A (p.Arg210Gln) rs138780791 0.00013
NM_000551.4(VHL):c.*70C>T rs552290225 0.00011
NM_000551.4(VHL):c.340+727T>G rs996243576 0.00011
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00010
NM_000551.4(VHL):c.340+742G>T rs186099278 0.00009
NM_000551.4(VHL):c.340+790G>A rs527534541 0.00009
NM_000551.4(VHL):c.25G>A (p.Asp9Asn) rs587780730 0.00008
NM_000551.4(VHL):c.340+691C>G rs1041395081 0.00008
NM_000551.4(VHL):c.5C>T (p.Pro2Leu) rs111246617 0.00008
NM_000551.4(VHL):c.115G>C (p.Gly39Arg) rs768650092 0.00007
NM_000551.4(VHL):c.135G>A (p.Pro45=) rs773519476 0.00007
NM_000551.4(VHL):c.312C>T (p.Gly104=) rs946898891 0.00007
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+10C>T rs777622214 0.00006
NM_000551.4(VHL):c.340+616C>T rs544465283 0.00006
NM_000551.4(VHL):c.340+837A>G rs190906863 0.00006
NM_000551.4(VHL):c.464-10G>A rs552930903 0.00006
NM_000551.4(VHL):c.531A>G (p.Arg177=) rs766088261 0.00006
NM_000551.4(VHL):c.89G>A (p.Gly30Glu) rs1064793290 0.00006
NM_000551.4(VHL):c.-55del rs1361905543 0.00005
NM_000551.4(VHL):c.340+621T>C rs562162481 0.00005
NM_000551.4(VHL):c.552C>T (p.Leu184=) rs779157605 0.00005
NM_000551.4(VHL):c.119C>T (p.Pro40Leu) rs200343185 0.00004
NM_000551.4(VHL):c.167C>G (p.Ala56Gly) rs752980085 0.00004
NM_000551.4(VHL):c.213C>T (p.Pro71=) rs201663073 0.00004
NM_000551.4(VHL):c.420C>A (p.Leu140=) rs369465430 0.00004
NM_000551.4(VHL):c.555C>T (p.Tyr185=) rs864622109 0.00004
NM_000551.4(VHL):c.556G>A (p.Glu186Lys) rs367545984 0.00004
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824 0.00004
NM_000551.4(VHL):c.631A>C (p.Met211Leu) rs200019083 0.00004
NM_000551.4(VHL):c.639T>C (p.Asp213=) rs775624944 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+20G>A rs757151154 0.00003
NM_000551.4(VHL):c.340+705G>A rs1411141967 0.00003
NM_000551.4(VHL):c.340+8C>A rs756068442 0.00003
NM_000551.4(VHL):c.375C>T (p.His125=) rs863224372 0.00003
NM_000551.4(VHL):c.427G>C (p.Asp143His) rs372757722 0.00003
NM_000551.4(VHL):c.463+4C>T rs879253989 0.00003
NM_000551.4(VHL):c.549G>A (p.Ser183=) rs193922614 0.00003
NM_000551.4(VHL):c.54A>C (p.Ala18=) rs1305687580 0.00003
NM_000551.4(VHL):c.554A>G (p.Tyr185Cys) rs561874453 0.00003
NM_000551.4(VHL):c.612G>A (p.Glu204=) rs747805018 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_000551.4(VHL):c.114C>T (p.Ser38=) rs417164 0.00002
NM_000551.4(VHL):c.14C>T (p.Ala5Val) rs755333116 0.00002
NM_000551.4(VHL):c.237C>T (p.Arg79=) rs760899424 0.00002
NM_000551.4(VHL):c.267C>A (p.Leu89=) rs755794553 0.00002
NM_000551.4(VHL):c.301C>T (p.Leu101=) rs772300829 0.00002
NM_000551.4(VHL):c.315G>C (p.Thr105=) rs769102979 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.336C>T (p.Tyr112=) rs751232153 0.00002
NM_000551.4(VHL):c.340+11G>A rs1309285376 0.00002
NM_000551.4(VHL):c.340+604C>T rs192085256 0.00002
NM_000551.4(VHL):c.340+634C>T rs1461514639 0.00002
NM_000551.4(VHL):c.340+724G>C rs900590059 0.00002
NM_000551.4(VHL):c.340+789C>G rs1241756327 0.00002
NM_000551.4(VHL):c.340+800G>A rs999509680 0.00002
NM_000551.4(VHL):c.376G>A (p.Asp126Asn) rs104893831 0.00002
NM_000551.4(VHL):c.439A>G (p.Ile147Val) rs1057517560 0.00002
NM_000551.4(VHL):c.463+15C>G rs761828544 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_000551.4(VHL):c.102C>T (p.Gly34=) rs967421751 0.00001
NM_000551.4(VHL):c.105C>G (p.Ala35=) rs1310829877 0.00001
NM_000551.4(VHL):c.108G>A (p.Glu36=) rs1553619344 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.129C>T (p.Ser43=) rs864622645 0.00001
NM_000551.4(VHL):c.134C>G (p.Pro45Arg) rs199583685 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.171G>A (p.Gly57=) rs750103719 0.00001
NM_000551.4(VHL):c.172C>T (p.Arg58Trp) rs757781272 0.00001
NM_000551.4(VHL):c.180G>C (p.Arg60=) rs1224891387 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.192C>T (p.Arg64=) rs1012545817 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.216C>T (p.Ser72=) rs774557051 0.00001
NM_000551.4(VHL):c.21C>A (p.Asn7Lys) rs1060503561 0.00001
NM_000551.4(VHL):c.222C>G (p.Val74=) rs759737367 0.00001
NM_000551.4(VHL):c.225C>T (p.Ile75=) rs768104793 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.242C>T (p.Pro81Leu) rs193922608 0.00001
NM_000551.4(VHL):c.247G>C (p.Val83Leu) rs751042065 0.00001
NM_000551.4(VHL):c.249C>G (p.Val83=) rs1271292937 0.00001
NM_000551.4(VHL):c.252G>C (p.Val84=) rs1436342215 0.00001
NM_000551.4(VHL):c.255G>A (p.Leu85=) rs876658508 0.00001
NM_000551.4(VHL):c.258C>G (p.Pro86=) rs781063331 0.00001
NM_000551.4(VHL):c.261A>G (p.Val87=) rs1386184754 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.285G>T (p.Pro95=) rs975432073 0.00001
NM_000551.4(VHL):c.289C>T (p.Pro97Ser) rs863224688 0.00001
NM_000551.4(VHL):c.291C>G (p.Pro97=) rs1805159 0.00001
NM_000551.4(VHL):c.292T>C (p.Tyr98His) rs5030809 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+595C>T rs1335472800 0.00001
NM_000551.4(VHL):c.340+601C>G rs978373924 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+631A>G rs947805761 0.00001
NM_000551.4(VHL):c.340+638C>G rs973712723 0.00001
NM_000551.4(VHL):c.340+675A>G rs1194123576 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+707G>A rs924279704 0.00001
NM_000551.4(VHL):c.340+713C>T rs1432659600 0.00001
NM_000551.4(VHL):c.340+738C>T rs1274332503 0.00001
NM_000551.4(VHL):c.340+752G>A rs1696163031 0.00001
NM_000551.4(VHL):c.340+770T>C rs1346312258 0.00001
NM_000551.4(VHL):c.340+791G>A rs903894625 0.00001
NM_000551.4(VHL):c.340+805C>G rs1696164445 0.00001
NM_000551.4(VHL):c.340+809A>G rs1377166151 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.341-10G>C rs140064807 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.354C>T (p.Leu118=) rs1051892430 0.00001
NM_000551.4(VHL):c.373C>T (p.His125Tyr) rs375401722 0.00001
NM_000551.4(VHL):c.377A>G (p.Asp126Gly) rs1354593943 0.00001
NM_000551.4(VHL):c.37G>A (p.Val13Ile) rs919338576 0.00001
NM_000551.4(VHL):c.385C>T (p.Leu129=) rs369018004 0.00001
NM_000551.4(VHL):c.387G>T (p.Leu129=) rs778846471 0.00001
NM_000551.4(VHL):c.38T>G (p.Val13Gly) rs1553619289 0.00001
NM_000551.4(VHL):c.39A>G (p.Val13=) rs996469746 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.417T>A (p.Ser139=) rs1406004337 0.00001
NM_000551.4(VHL):c.426T>C (p.Val142=) rs143594610 0.00001
NM_000551.4(VHL):c.429C>T (p.Asp143=) rs773556807 0.00001
NM_000551.4(VHL):c.440T>C (p.Ile147Thr) rs1060503555 0.00001
NM_000551.4(VHL):c.463+12T>C rs1382435156 0.00001
NM_000551.4(VHL):c.464-3C>T rs904414377 0.00001
NM_000551.4(VHL):c.465G>A (p.Val155=) rs1696354036 0.00001
NM_000551.4(VHL):c.46G>C (p.Glu16Gln) rs1060503556 0.00001
NM_000551.4(VHL):c.471T>C (p.Thr157=) rs1252473811 0.00001
NM_000551.4(VHL):c.48G>A (p.Glu16=) rs1057522140 0.00001
NM_000551.4(VHL):c.492G>C (p.Gln164His) rs1352275281 0.00001
NM_000551.4(VHL):c.499C>T (p.Arg167Trp) rs5030820 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.507A>C (p.Leu169=) rs878854126 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.540C>T (p.Ile180=) rs374927292 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.561T>C (p.Asp187=) rs370769257 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.582G>A (p.Val194=) rs1696363804 0.00001
NM_000551.4(VHL):c.594G>C (p.Leu198=) rs1575932599 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.606A>G (p.Thr202=) rs1575932637 0.00001
NM_000551.4(VHL):c.608A>G (p.Gln203Arg) rs1270568049 0.00001
NM_000551.4(VHL):c.627A>G (p.Gln209=) rs758494789 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.90G>A (p.Gly30=) rs391818 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_000551.4(VHL):c.99G>C (p.Ser33=) rs912159589 0.00001
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.(?_10183522)_(10188330_?)dup
NC_000003.11:g.(?_10183526)_(10191655_?)dup
NC_000003.11:g.(?_10183532)_(10188330_?)del
NC_000003.11:g.(?_10183532)_(10188330_?)dup
NC_000003.11:g.(?_10183579)_(10185909_?)del
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_000003.11:g.10094065-?_10191654+?del
NC_000003.11:g.10106407-?_10191654+?del
NC_000003.12:g.(?_10052377)_(10149975_?)del
NC_000003.12:g.(?_10052377)_(10150035_?)del
NC_000003.12:g.(?_10052377)_(10150035_?)dup
NC_000003.12:g.(?_10064719)_(10150035_?)dup
NC_000003.12:g.(?_10064723)_(10149971_?)del
NC_000003.12:g.(?_10072861)_(10150035_?)del
NC_000003.12:g.(?_10141635)_(10142187_?)del
NC_000003.12:g.(?_10141635)_(10153670_?)del
NC_000003.12:g.(?_10141828)_(10146656_?)del
NC_000003.12:g.(?_10141838)_(10142197_?)del
NC_000003.12:g.(?_10141838)_(10149975_?)del
NC_000003.12:g.(?_10141848)_(10142197_?)del
NC_000003.12:g.(?_10141848)_(10142197_?)dup
NC_000003.12:g.(?_10141848)_(10143024_?)del
NC_000003.12:g.(?_10141848)_(10150035_?)dup
NC_000003.12:g.(?_10146504)_(10146646_?)del
NC_000003.12:g.(?_10146504)_(10149975_?)del
NC_000003.12:g.(?_10146504)_(10149975_?)dup
NC_000003.12:g.(?_10146508)_(10149971_?)del
NC_000003.12:g.(?_10146514)_(10146636_?)del
NC_000003.12:g.(?_10149777)_(10149975_?)del
NC_000003.12:g.(?_10149777)_(10150035_?)del
NC_000003.12:g.10141762_10141816del
NM_000551.3(VHL):c.464-?_*3705del
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.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.105C>A (p.Ala35=) rs1310829877
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.111G>A (p.Glu37=)
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.117C>T (p.Gly39=) rs1057521552
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.120G>A (p.Pro40=) rs1189123803
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.123A>G (p.Glu41=) rs2125124753
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.129C>G (p.Ser43=) rs864622645
NM_000551.4(VHL):c.12G>A (p.Arg4=) rs1553619274
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.132C>T (p.Gly44=) rs1696123413
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.135G>C (p.Pro45=) rs773519476
NM_000551.4(VHL):c.135G>T (p.Pro45=)
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>C (p.Ala5Pro) rs1559425498
NM_000551.4(VHL):c.13G>T (p.Ala5Ser) rs1559425498
NM_000551.4(VHL):c.141A>G (p.Glu47=) rs1353920298
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.147C>A (p.Gly49=)
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.150C>A (p.Ala50=) rs61751580
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.154G>A (p.Glu52Lys) rs373068386
NM_000551.4(VHL):c.154G>T (p.Glu52Ter) rs373068386
NM_000551.4(VHL):c.156G>A (p.Glu52=) rs2125124847
NM_000551.4(VHL):c.158A>G (p.Glu53Gly) rs2125124854
NM_000551.4(VHL):c.159G>A (p.Glu53=) rs1553619385
NM_000551.4(VHL):c.159G>C (p.Glu53Asp) rs1553619385
NM_000551.4(VHL):c.15G>A (p.Ala5=) rs1355874307
NM_000551.4(VHL):c.160A>T (p.Met54Leu) rs1696125033
NM_000551.4(VHL):c.161T>G (p.Met54Arg)
NM_000551.4(VHL):c.162G>A (p.Met54Ile)
NM_000551.4(VHL):c.163G>C (p.Glu55Gln) rs2125124873
NM_000551.4(VHL):c.163dup (p.Glu55fs) rs869025615
NM_000551.4(VHL):c.164A>G (p.Glu55Gly) rs1328776664
NM_000551.4(VHL):c.164A>T (p.Glu55Val)
NM_000551.4(VHL):c.164_171dup (p.Arg60fs) rs886041345
NM_000551.4(VHL):c.165G>A (p.Glu55=) rs1553619391
NM_000551.4(VHL):c.166G>A (p.Ala56Thr)
NM_000551.4(VHL):c.167C>T (p.Ala56Val) rs752980085
NM_000551.4(VHL):c.168C>A (p.Ala56=) rs864622714
NM_000551.4(VHL):c.168C>G (p.Ala56=) rs864622714
NM_000551.4(VHL):c.168C>T (p.Ala56=) rs864622714
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.171G>C (p.Gly57=) rs750103719
NM_000551.4(VHL):c.172C>A (p.Arg58=) rs757781272
NM_000551.4(VHL):c.173G>A (p.Arg58Gln) rs1553619400
NM_000551.4(VHL):c.174G>A (p.Arg58=) rs2125124907
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.177G>A (p.Pro59=) rs2125124920
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.179_192del (p.Arg60fs) rs1064796408
NM_000551.4(VHL):c.17A>C (p.Glu6Ala) rs1696114029
NM_000551.4(VHL):c.180G>A (p.Arg60=) rs1224891387
NM_000551.4(VHL):c.180del (p.Val62fs) rs730882037
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.182_183del (p.Pro61fs)
NM_000551.4(VHL):c.183C>A (p.Pro61=) rs63650860
NM_000551.4(VHL):c.183C>T (p.Pro61=) rs63650860
NM_000551.4(VHL):c.184G>A (p.Val62Met) rs747861291
NM_000551.4(VHL):c.184del (p.Val62fs)
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.186_187delinsTT (p.Val62_Leu63=) rs2125124945
NM_000551.4(VHL):c.187C>T (p.Leu63=)
NM_000551.4(VHL):c.188T>A (p.Leu63Gln) rs104893827
NM_000551.4(VHL):c.188T>C (p.Leu63Pro) rs104893827
NM_000551.4(VHL):c.189G>A (p.Leu63=) rs1575921711
NM_000551.4(VHL):c.189_193dup (p.Ser65fs)
NM_000551.4(VHL):c.18G>A (p.Glu6=) rs1004620245
NM_000551.4(VHL):c.18G>C (p.Glu6Asp)
NM_000551.4(VHL):c.18G>T (p.Glu6Asp) rs1004620245
NM_000551.4(VHL):c.190C>A (p.Arg64Ser) rs1487408934
NM_000551.4(VHL):c.191G>A (p.Arg64His) rs104893826
NM_000551.4(VHL):c.191G>C (p.Arg64Pro) rs104893826
NM_000551.4(VHL):c.191dup (p.Ser65fs)
NM_000551.4(VHL):c.193T>A (p.Ser65Thr) rs869025616
NM_000551.4(VHL):c.194C>A (p.Ser65Ter) rs5030826
NM_000551.4(VHL):c.194C>G (p.Ser65Trp) rs5030826
NM_000551.4(VHL):c.194C>T (p.Ser65Leu) rs5030826
NM_000551.4(VHL):c.195G>C (p.Ser65=) rs1553619409
NM_000551.4(VHL):c.198G>A (p.Val66=)
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.201C>T (p.Asn67=) rs769658318
NM_000551.4(VHL):c.202T>C (p.Ser68Pro)
NM_000551.4(VHL):c.203C>A (p.Ser68Ter) rs869025617
NM_000551.4(VHL):c.203C>T (p.Ser68Leu) rs869025617
NM_000551.4(VHL):c.204G>C (p.Ser68=) rs773246608
NM_000551.4(VHL):c.204G>T (p.Ser68=) rs773246608
NM_000551.4(VHL):c.204dup (p.Arg69fs)
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.207C>G (p.Arg69=) rs1060503550
NM_000551.4(VHL):c.207C>T (p.Arg69=) rs1060503550
NM_000551.4(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.4(VHL):c.208G>C (p.Glu70Gln) rs5030802
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.213C>G (p.Pro71=) rs201663073
NM_000551.4(VHL):c.214T>C (p.Ser72Pro) rs869025618
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.217C>T (p.Gln73Ter) 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.21C>T (p.Asn7=) rs1060503561
NM_000551.4(VHL):c.220G>C (p.Val74Leu) rs2125125032
NM_000551.4(VHL):c.220G>T (p.Val74Phe)
NM_000551.4(VHL):c.221T>A (p.Val74Asp) rs5030803
NM_000551.4(VHL):c.221T>C (p.Val74Ala) rs5030803
NM_000551.4(VHL):c.222C>T (p.Val74=) rs759737367
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.224T>G (p.Ile75Ser) rs1064794271
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del) rs5030648
NM_000551.4(VHL):c.225C>G (p.Ile75Met) rs768104793
NM_000551.4(VHL):c.226_227del (p.Phe76fs) rs1060503552
NM_000551.4(VHL):c.227T>G (p.Phe76Cys) rs730882033
NM_000551.4(VHL):c.228C>T (p.Phe76=) rs1575921940
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.231C>A (p.Cys77Ter)
NM_000551.4(VHL):c.232A>G (p.Asn78Asp) rs869025621
NM_000551.4(VHL):c.233A>C (p.Asn78Thr) rs5030804
NM_000551.4(VHL):c.233A>G (p.Asn78Ser) rs5030804
NM_000551.4(VHL):c.233A>T (p.Asn78Ile) rs5030804
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.237C>G (p.Arg79=) rs760899424
NM_000551.4(VHL):c.238A>G (p.Ser80Gly) rs786202787
NM_000551.4(VHL):c.238_246del (p.Ser80_Arg82del) rs1696132295
NM_000551.4(VHL):c.239G>A (p.Ser80Asn) rs5030805
NM_000551.4(VHL):c.239G>T (p.Ser80Ile) rs5030805
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.240T>C (p.Ser80=) rs1553619424
NM_000551.4(VHL):c.241C>G (p.Pro81Ala) rs104893829
NM_000551.4(VHL):c.241_244dup (p.Arg82fs) rs2125125103
NM_000551.4(VHL):c.242C>A (p.Pro81Gln) rs193922608
NM_000551.4(VHL):c.243G>C (p.Pro81=)
NM_000551.4(VHL):c.244C>G (p.Arg82Gly) rs1214305423
NM_000551.4(VHL):c.244C>T (p.Arg82Cys) rs1214305423
NM_000551.4(VHL):c.244_259dup (p.Val87fs) rs2125125105
NM_000551.4(VHL):c.245G>A (p.Arg82His) rs794726890
NM_000551.4(VHL):c.245G>T (p.Arg82Leu) rs794726890
NM_000551.4(VHL):c.247G>A (p.Val83Ile)
NM_000551.4(VHL):c.250G>A (p.Val84Met) rs5030827
NM_000551.4(VHL):c.250G>C (p.Val84Leu) rs5030827
NM_000551.4(VHL):c.250G>T (p.Val84Leu) rs5030827
NM_000551.4(VHL):c.251T>C (p.Val84Ala) rs1264207864
NM_000551.4(VHL):c.252G>A (p.Val84=) rs1436342215
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.255G>T (p.Leu85=) rs876658508
NM_000551.4(VHL):c.256C>G (p.Pro86Ala) rs398123481
NM_000551.4(VHL):c.256C>T (p.Pro86Ser) rs398123481
NM_000551.4(VHL):c.257C>G (p.Pro86Arg) rs730882034
NM_000551.4(VHL):c.257C>T (p.Pro86Leu) rs730882034
NM_000551.4(VHL):c.258C>T (p.Pro86=) rs781063331
NM_000551.4(VHL):c.258del (p.Val87fs) rs864622545
NM_000551.4(VHL):c.259G>A (p.Val87Ile)
NM_000551.4(VHL):c.25G>C (p.Asp9His) rs587780730
NM_000551.4(VHL):c.262T>A (p.Trp88Arg) rs1553619431
NM_000551.4(VHL):c.262T>C (p.Trp88Arg) rs1553619431
NM_000551.4(VHL):c.263G>A (p.Trp88Ter) rs119103277
NM_000551.4(VHL):c.264G>A (p.Trp88Ter) rs869025622
NM_000551.4(VHL):c.264G>C (p.Trp88Cys) rs869025622
NM_000551.4(VHL):c.264G>T (p.Trp88Cys) rs869025622
NM_000551.4(VHL):c.264_267dup (p.Asn90fs) rs1696134947
NM_000551.4(VHL):c.265C>T (p.Leu89Phe) rs1575922124
NM_000551.4(VHL):c.266T>C (p.Leu89Pro) rs5030807
NM_000551.4(VHL):c.267C>G (p.Leu89=) rs755794553
NM_000551.4(VHL):c.267C>T (p.Leu89=) rs755794553
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.270C>T (p.Asn90=)
NM_000551.4(VHL):c.273C>A (p.Phe91Leu) rs1060503563
NM_000551.4(VHL):c.273C>T (p.Phe91=)
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.276C>T (p.Asp92=) rs1442093467
NM_000551.4(VHL):c.277G>A (p.Gly93Ser) rs5030808
NM_000551.4(VHL):c.277G>C (p.Gly93Arg) rs5030808
NM_000551.4(VHL):c.277_294del (p.Gly93_Tyr98del) rs1559426059
NM_000551.4(VHL):c.278G>A (p.Gly93Asp) rs1553619440
NM_000551.4(VHL):c.278_279delinsTT (p.Gly93Val) rs1559426072
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.27C>T (p.Asp9=) rs1017141110
NM_000551.4(VHL):c.280G>A (p.Glu94Lys) rs5030829
NM_000551.4(VHL):c.280G>T (p.Glu94Ter) rs5030829
NM_000551.4(VHL):c.281A>T (p.Glu94Val)
NM_000551.4(VHL):c.282G>A (p.Glu94=)
NM_000551.4(VHL):c.282G>T (p.Glu94Asp)
NM_000551.4(VHL):c.283C>T (p.Pro95Ser) rs1376530057
NM_000551.4(VHL):c.285G>A (p.Pro95=) rs975432073
NM_000551.4(VHL):c.286_288delinsACC (p.Gln96Thr) rs2125125241
NM_000551.4(VHL):c.288G>A (p.Gln96=) rs1553619446
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.291C>T (p.Pro97=) rs1805159
NM_000551.4(VHL):c.291_292delinsAC (p.Tyr98His)
NM_000551.4(VHL):c.291_302del (p.Tyr98_Leu101del) rs1575922296
NM_000551.4(VHL):c.293A>C (p.Tyr98Ser) rs864321643
NM_000551.4(VHL):c.293A>G (p.Tyr98Cys) rs864321643
NM_000551.4(VHL):c.294C>T (p.Tyr98=) rs1559426115
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.297A>C (p.Pro99=) rs774753107
NM_000551.4(VHL):c.298A>C (p.Thr100Pro) rs745901803
NM_000551.4(VHL):c.298del (p.Thr100fs) rs2125125269
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.300G>A (p.Thr100=) rs915491008
NM_000551.4(VHL):c.300G>T (p.Thr100=) rs915491008
NM_000551.4(VHL):c.302T>C (p.Leu101Pro) rs1553619456
NM_000551.4(VHL):c.303G>A (p.Leu101=) rs766583052
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.305dup (p.Pro103fs)
NM_000551.4(VHL):c.306G>A (p.Pro102=)
NM_000551.4(VHL):c.306G>T (p.Pro102=) rs550155859
NM_000551.4(VHL):c.307C>G (p.Pro103Ala) rs864622267
NM_000551.4(VHL):c.307C>T (p.Pro103Ser)
NM_000551.4(VHL):c.308C>T (p.Pro103Leu) rs2125125299
NM_000551.4(VHL):c.309T>C (p.Pro103=) rs1262511541
NM_000551.4(VHL):c.30G>A (p.Glu10=) rs963501454
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.310_311insC (p.Gly104fs)
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.314dup (p.Arg107fs) rs2125125325
NM_000551.4(VHL):c.315G>A (p.Thr105=) rs769102979
NM_000551.4(VHL):c.315G>T (p.Thr105=) rs769102979
NM_000551.4(VHL):c.318C>T (p.Gly106=)
NM_000551.4(VHL):c.319C>A (p.Arg107Ser)
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.320G>A (p.Arg107His) rs193922609
NM_000551.4(VHL):c.320G>C (p.Arg107Pro) rs193922609
NM_000551.4(VHL):c.323G>T (p.Arg108Leu)
NM_000551.4(VHL):c.324C>T (p.Arg108=) rs878854124
NM_000551.4(VHL):c.327C>A (p.Ile109=) rs863224371
NM_000551.4(VHL):c.327C>G (p.Ile109Met) rs863224371
NM_000551.4(VHL):c.327C>T (p.Ile109=) 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.329del (p.His110fs) rs1559426199
NM_000551.4(VHL):c.329dup (p.His110fs)
NM_000551.4(VHL):c.330C>G (p.His110Gln) rs1696140667
NM_000551.4(VHL):c.330C>T (p.His110=)
NM_000551.4(VHL):c.330_331delinsTT (p.Ser111Cys)
NM_000551.4(VHL):c.331A>G (p.Ser111Gly) rs1559426203
NM_000551.4(VHL):c.331A>T (p.Ser111Cys) rs1559426203
NM_000551.4(VHL):c.332G>A (p.Ser111Asn) rs869025631
NM_000551.4(VHL):c.333C>G (p.Ser111Arg) rs765978945
NM_000551.4(VHL):c.333C>T (p.Ser111=) rs765978945
NM_000551.4(VHL):c.334T>C (p.Tyr112His) rs104893824
NM_000551.4(VHL):c.335A>G (p.Tyr112Cys) rs869025633
NM_000551.4(VHL):c.336C>G (p.Tyr112Ter) rs751232153
NM_000551.4(VHL):c.337C>G (p.Arg113Gly) rs5030810
NM_000551.4(VHL):c.337C>T (p.Arg113Ter) 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.339_340+5del rs1575922562
NM_000551.4(VHL):c.33C>G (p.Ala11=)
NM_000551.4(VHL):c.33C>T (p.Ala11=) rs778674343
NM_000551.4(VHL):c.33_38dup (p.Val13_Gly14insGluVal)
NM_000551.4(VHL):c.340+10C>A rs777622214
NM_000551.4(VHL):c.340+10C>G
NM_000551.4(VHL):c.340+10del rs2125125434
NM_000551.4(VHL):c.340+11G>T
NM_000551.4(VHL):c.340+14G>C
NM_000551.4(VHL):c.340+15C>T
NM_000551.4(VHL):c.340+1G>A rs730882032
NM_000551.4(VHL):c.340+1G>C rs730882032
NM_000551.4(VHL):c.340+20G>T rs757151154
NM_000551.4(VHL):c.340+2T>G
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+574A>T rs982745672
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>G rs1696157821
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+595C>A rs1335472800
NM_000551.4(VHL):c.340+598G>A rs2125125857
NM_000551.4(VHL):c.340+599T>A
NM_000551.4(VHL):c.340+5G>A rs61758376
NM_000551.4(VHL):c.340+5_340+17dup
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+610C>T
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+623G>C
NM_000551.4(VHL):c.340+625G>A rs2125125893
NM_000551.4(VHL):c.340+626A>G rs1696159137
NM_000551.4(VHL):c.340+627A>C rs1696159189
NM_000551.4(VHL):c.340+627A>G
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+631A>T rs947805761
NM_000551.4(VHL):c.340+633T>C rs2125125904
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+646A>G rs765323685
NM_000551.4(VHL):c.340+646A>T rs765323685
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+653_340+654del rs1420441572
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+670A>T
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+688C>T rs1696160788
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>C rs1441240589
NM_000551.4(VHL):c.340+694A>G rs1441240589
NM_000551.4(VHL):c.340+694_340+711dup rs1575923363
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>A rs1039517619
NM_000551.4(VHL):c.340+701G>C rs1039517619
NM_000551.4(VHL):c.340+701G>T rs1039517619
NM_000551.4(VHL):c.340+702_340+705del rs2125125997
NM_000551.4(VHL):c.340+702del
NM_000551.4(VHL):c.340+703C>T
NM_000551.4(VHL):c.340+704C>A
NM_000551.4(VHL):c.340+704C>G
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+714G>A rs1054796088
NM_000551.4(VHL):c.340+714G>C rs1054796088
NM_000551.4(VHL):c.340+714G>T rs1054796088
NM_000551.4(VHL):c.340+715T>G rs2125126018
NM_000551.4(VHL):c.340+716G>A rs1696162086
NM_000551.4(VHL):c.340+716G>C rs1696162086
NM_000551.4(VHL):c.340+720A>G rs2125126022
NM_000551.4(VHL):c.340+721A>T
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+728dup rs1232519357
NM_000551.4(VHL):c.340+729A>C rs2125126034
NM_000551.4(VHL):c.340+730C>A rs548008573
NM_000551.4(VHL):c.340+730C>G rs548008573
NM_000551.4(VHL):c.340+730C>T 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+737G>C rs1696162735
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+745A>G
NM_000551.4(VHL):c.340+745A>T
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+796G>A
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+7G>C rs869025635
NM_000551.4(VHL):c.340+7del rs1575922613
NM_000551.4(VHL):c.340+802G>C
NM_000551.4(VHL):c.340+803A>G rs2125126112
NM_000551.4(VHL):c.340+804G>C rs1696164389
NM_000551.4(VHL):c.340+806A>G
NM_000551.4(VHL):c.340+806A>T rs1696164489
NM_000551.4(VHL):c.340+808G>A rs1696164529
NM_000551.4(VHL):c.340+808G>C
NM_000551.4(VHL):c.340+808_340+809dup rs2125126119
NM_000551.4(VHL):c.340+809A>T rs1377166151
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+819A>G rs1696164925
NM_000551.4(VHL):c.340+821C>G rs552399136
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+826C>T rs2125126135
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+833A>T rs2125126148
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.340+8C>T rs756068442
NM_000551.4(VHL):c.340+9C>T rs1575922622
NM_000551.4(VHL):c.340G>A (p.Gly114Ser) rs869025636
NM_000551.4(VHL):c.340G>C (p.Gly114Arg) rs869025636
NM_000551.4(VHL):c.341-11T>A rs2125128187
NM_000551.4(VHL):c.341-11T>G rs2125128187
NM_000551.4(VHL):c.341-12T>C
NM_000551.4(VHL):c.341-14G>A rs1696259908
NM_000551.4(VHL):c.341-15T>C rs2125128176
NM_000551.4(VHL):c.341-18C>T
NM_000551.4(VHL):c.341-1_342dup rs1696260542
NM_000551.4(VHL):c.341-20A>G
NM_000551.4(VHL):c.341-2A>G rs869025637
NM_000551.4(VHL):c.341-2A>T
NM_000551.4(VHL):c.341-4A>T rs1559428033
NM_000551.4(VHL):c.341-5G>A rs372340900
NM_000551.4(VHL):c.341-5G>C
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.341-7C>T rs1308495590
NM_000551.4(VHL):c.341-8C>T rs1272767361
NM_000551.4(VHL):c.341G>T (p.Gly114Val)
NM_000551.4(VHL):c.343C>A (p.His115Asn)
NM_000551.4(VHL):c.344A>G (p.His115Arg) rs5030812
NM_000551.4(VHL):c.345C>A (p.His115Gln) rs864622646
NM_000551.4(VHL):c.345C>T (p.His115=) rs864622646
NM_000551.4(VHL):c.347T>G (p.Leu116Arg) rs879254230
NM_000551.4(VHL):c.349T>C (p.Trp117Arg)
NM_000551.4(VHL):c.349T>G (p.Trp117Gly) rs1696261074
NM_000551.4(VHL):c.34_35delinsTT (p.Glu12Leu) rs1696115662
NM_000551.4(VHL):c.350G>C (p.Trp117Ser)
NM_000551.4(VHL):c.352_353insA (p.Leu118fs) rs869025641
NM_000551.4(VHL):c.353T>C (p.Leu118Pro) rs5030830
NM_000551.4(VHL):c.355T>C (p.Phe119Leu) rs1553619948
NM_000551.4(VHL):c.356T>G (p.Phe119Cys) rs2125128254
NM_000551.4(VHL):c.357C>G (p.Phe119Leu) rs1559428077
NM_000551.4(VHL):c.357C>T (p.Phe119=) rs1559428077
NM_000551.4(VHL):c.358A>G (p.Arg120Gly) rs869025642
NM_000551.4(VHL):c.35A>G (p.Glu12Gly) rs1380706798
NM_000551.4(VHL):c.361G>A (p.Asp121Asn)
NM_000551.4(VHL):c.362A>G (p.Asp121Gly) rs5030832
NM_000551.4(VHL):c.362A>T (p.Asp121Val) rs5030832
NM_000551.4(VHL):c.363dup (p.Ala122fs) rs1575927767
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.366A>C (p.Ala122=) rs1474241640
NM_000551.4(VHL):c.366A>G (p.Ala122=) rs1474241640
NM_000551.4(VHL):c.36G>C (p.Glu12Asp) rs973493604
NM_000551.4(VHL):c.370A>G (p.Thr124Ala) rs1559428091
NM_000551.4(VHL):c.372_375del (p.His125fs)
NM_000551.4(VHL):c.374_375del (p.His125fs) rs869025644
NM_000551.4(VHL):c.376G>C (p.Asp126His) rs104893831
NM_000551.4(VHL):c.376G>T (p.Asp126Tyr) rs104893831
NM_000551.4(VHL):c.376_382delinsAA (p.Asp126fs) rs1696262643
NM_000551.4(VHL):c.377_379dup (p.Asp126dup) rs1696262591
NM_000551.4(VHL):c.377del (p.Asp126fs) rs1553619952
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.382_388del (p.Leu129fs)
NM_000551.4(VHL):c.383T>C (p.Leu128Pro) rs2125128327
NM_000551.4(VHL):c.385C>G (p.Leu129Val) rs369018004
NM_000551.4(VHL):c.386T>C (p.Leu129Pro) rs1559428119
NM_000551.4(VHL):c.387G>C (p.Leu129=) rs778846471
NM_000551.4(VHL):c.388G>A (p.Val130Ile)
NM_000551.4(VHL):c.388G>C (p.Val130Leu) rs104893830
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.391A>T (p.Asn131Tyr) rs2125128340
NM_000551.4(VHL):c.392A>G (p.Asn131Ser) rs1553619963
NM_000551.4(VHL):c.393C>A (p.Asn131Lys) rs1064794272
NM_000551.4(VHL):c.393C>T (p.Asn131=)
NM_000551.4(VHL):c.394C>T (p.Gln132Ter) rs5030813
NM_000551.4(VHL):c.397del (p.Thr133fs) rs1559428134
NM_000551.4(VHL):c.398C>G (p.Thr133Ser)
NM_000551.4(VHL):c.398C>T (p.Thr133Ile) rs1060503565
NM_000551.4(VHL):c.39A>T (p.Val13=) rs996469746
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.400G>T (p.Glu134Ter) rs2125128363
NM_000551.4(VHL):c.402A>G (p.Glu134=) rs201482330
NM_000551.4(VHL):c.406T>G (p.Phe136Val)
NM_000551.4(VHL):c.407T>C (p.Phe136Ser) rs5030833
NM_000551.4(VHL):c.408dup (p.Val137fs)
NM_000551.4(VHL):c.409G>A (p.Val137Met)
NM_000551.4(VHL):c.40G>A (p.Gly14Ser) rs1060503559
NM_000551.4(VHL):c.411G>C (p.Val137=) rs1553619969
NM_000551.4(VHL):c.414A>G (p.Pro138=) rs869025648
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.417T>G (p.Ser139=) rs1406004337
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.419_420del (p.Leu140fs) rs869025649
NM_000551.4(VHL):c.41G>A (p.Gly14Asp) rs1575921044
NM_000551.4(VHL):c.420C>T (p.Leu140=) rs369465430
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.422dup (p.Asn141fs) rs1553619976
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>A (p.Gly14=)
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.430G>T (p.Gly144Ter) rs869025650
NM_000551.4(VHL):c.431G>A (p.Gly144Glu) rs2125128440
NM_000551.4(VHL):c.432A>G (p.Gly144=) rs1575928044
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.435_436del (p.Gln145fs) rs869025652
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.444T>C (p.Phe148=)
NM_000551.4(VHL):c.444del (p.Phe148fs) rs869025653
NM_000551.4(VHL):c.445G>C (p.Ala149Pro) rs587780077
NM_000551.4(VHL):c.445G>T (p.Ala149Ser) rs587780077
NM_000551.4(VHL):c.446C>T (p.Ala149Val) rs1696266503
NM_000551.4(VHL):c.447C>T (p.Ala149=) rs2125128479
NM_000551.4(VHL):c.448_449del (p.Asn150fs) rs1696266605
NM_000551.4(VHL):c.449A>G (p.Asn150Ser) rs760184234
NM_000551.4(VHL):c.449del (p.Asn150fs) rs794727253
NM_000551.4(VHL):c.44C>T (p.Ala15Val)
NM_000551.4(VHL):c.450T>C (p.Asn150=)
NM_000551.4(VHL):c.451A>G (p.Ile151Val) rs876659313
NM_000551.4(VHL):c.452T>C (p.Ile151Thr) rs869025655
NM_000551.4(VHL):c.455C>T (p.Thr152Ile)
NM_000551.4(VHL):c.456A>G (p.Thr152=)
NM_000551.4(VHL):c.457C>T (p.Leu153=) rs2125128512
NM_000551.4(VHL):c.459G>A (p.Leu153=) rs1382653522
NM_000551.4(VHL):c.459G>T (p.Leu153=)
NM_000551.4(VHL):c.45G>A (p.Ala15=) rs563813895
NM_000551.4(VHL):c.45G>C (p.Ala15=) rs563813895
NM_000551.4(VHL):c.45G>T (p.Ala15=)
NM_000551.4(VHL):c.460C>A (p.Pro154Thr)
NM_000551.4(VHL):c.460C>G (p.Pro154Ala) rs1553619993
NM_000551.4(VHL):c.460C>T (p.Pro154Ser) rs1553619993
NM_000551.4(VHL):c.461C>G (p.Pro154Arg) rs1399097617
NM_000551.4(VHL):c.461C>T (p.Pro154Leu) rs1399097617
NM_000551.4(VHL):c.462A>G (p.Pro154=) rs1060503562
NM_000551.4(VHL):c.463+13T>G
NM_000551.4(VHL):c.463+14A>C
NM_000551.4(VHL):c.463+15C>A
NM_000551.4(VHL):c.463+16T>G rs2125128572
NM_000551.4(VHL):c.463+18T>A
NM_000551.4(VHL):c.463+1G>A rs869025657
NM_000551.4(VHL):c.463+1G>T rs869025657
NM_000551.4(VHL):c.463+20dup
NM_000551.4(VHL):c.463+2T>C rs5030814
NM_000551.4(VHL):c.463+37_463+39del rs869025658
NM_000551.4(VHL):c.463+3A>C rs1131690954
NM_000551.4(VHL):c.463+5T>G rs1003364563
NM_000551.4(VHL):c.463+9G>A rs1057522720
NM_000551.4(VHL):c.463+9G>T
NM_000551.4(VHL):c.463G>A (p.Val155Met) rs869025659
NM_000551.4(VHL):c.463G>C (p.Val155Leu) rs869025659
NM_000551.4(VHL):c.464-12T>C rs746646171
NM_000551.4(VHL):c.464-16G>A
NM_000551.4(VHL):c.464-16G>C
NM_000551.4(VHL):c.464-16G>T rs1453921703
NM_000551.4(VHL):c.464-17G>C
NM_000551.4(VHL):c.464-1G>A rs5030817
NM_000551.4(VHL):c.464-1G>T rs5030817
NM_000551.4(VHL):c.464-2A>C
NM_000551.4(VHL):c.464-2A>G rs5030816
NM_000551.4(VHL):c.464-6T>A
NM_000551.4(VHL):c.464-6T>G
NM_000551.4(VHL):c.464-7C>A
NM_000551.4(VHL):c.464-7C>T
NM_000551.4(VHL):c.464-9C>A
NM_000551.4(VHL):c.464-9C>T rs1238907068
NM_000551.4(VHL):c.464T>G (p.Val155Gly)
NM_000551.4(VHL):c.465G>T (p.Val155=) rs1696354036
NM_000551.4(VHL):c.467A>G (p.Tyr156Cys) rs397516441
NM_000551.4(VHL):c.46G>T (p.Glu16Ter) rs1060503556
NM_000551.4(VHL):c.472C>G (p.Leu158Val) rs1559429613
NM_000551.4(VHL):c.473T>C (p.Leu158Pro) rs121913346
NM_000551.4(VHL):c.474G>T (p.Leu158=) rs1575932005
NM_000551.4(VHL):c.475A>T (p.Lys159Ter) rs1575932011
NM_000551.4(VHL):c.477A>G (p.Lys159=) rs1696354920
NM_000551.4(VHL):c.477_478insTCA (p.Lys159_Glu160insSer)
NM_000551.4(VHL):c.477del (p.Glu160fs) rs730882020
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.481C>G (p.Arg161Gly) rs5030818
NM_000551.4(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_000551.4(VHL):c.482G>A (p.Arg161Gln) rs730882035
NM_000551.4(VHL):c.483_500dup (p.Cys162_Arg167dup) rs1553620312
NM_000551.4(VHL):c.484T>C (p.Cys162Arg) rs1553620313
NM_000551.4(VHL):c.485G>T (p.Cys162Phe) rs397516444
NM_000551.4(VHL):c.485_486delinsTT (p.Cys162Phe)
NM_000551.4(VHL):c.486C>A (p.Cys162Ter) rs5030622
NM_000551.4(VHL):c.486C>G (p.Cys162Trp) rs5030622
NM_000551.4(VHL):c.487C>A (p.Leu163Ile)
NM_000551.4(VHL):c.487C>T (p.Leu163Phe) rs1553620318
NM_000551.4(VHL):c.488T>C (p.Leu163Pro) rs28940297
NM_000551.4(VHL):c.488T>G (p.Leu163Arg) rs28940297
NM_000551.4(VHL):c.489C>G (p.Leu163=) rs1575932067
NM_000551.4(VHL):c.48G>C (p.Glu16Asp) rs1057522140
NM_000551.4(VHL):c.490C>T (p.Gln164Ter) rs5030819
NM_000551.4(VHL):c.491A>G (p.Gln164Arg) rs267607170
NM_000551.4(VHL):c.492G>T (p.Gln164His) rs1352275281
NM_000551.4(VHL):c.493G>A (p.Val165Ile)
NM_000551.4(VHL):c.493G>T (p.Val165Phe) rs1575932103
NM_000551.4(VHL):c.493del (p.Val165fs)
NM_000551.4(VHL):c.494T>G (p.Val165Gly) rs1575932110
NM_000551.4(VHL):c.495T>A (p.Val165=)
NM_000551.4(VHL):c.496G>A (p.Val166Ile) rs104893825
NM_000551.4(VHL):c.496G>T (p.Val166Phe) rs104893825
NM_000551.4(VHL):c.498C>T (p.Val166=) rs2125130531
NM_000551.4(VHL):c.499C>G (p.Arg167Gly) rs5030820
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.500G>A (p.Arg167Gln) rs5030821
NM_000551.4(VHL):c.500G>T (p.Arg167Leu) rs5030821
NM_000551.4(VHL):c.501G>C (p.Arg167=) rs1461479062
NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs) rs398123483
NM_000551.4(VHL):c.503G>A (p.Ser168Asn)
NM_000551.4(VHL):c.504C>T (p.Ser168=) rs1553620323
NM_000551.4(VHL):c.504_519del (p.Ser168fs) rs2125130543
NM_000551.4(VHL):c.505C>G (p.Leu169Val)
NM_000551.4(VHL):c.505dup (p.Leu169fs) rs1696357569
NM_000551.4(VHL):c.506T>C (p.Leu169Pro) rs1131690962
NM_000551.4(VHL):c.507A>G (p.Leu169=)
NM_000551.4(VHL):c.508G>A (p.Val170Ile) rs1553620326
NM_000551.4(VHL):c.509T>A (p.Val170Asp) rs864321642
NM_000551.4(VHL):c.510C>A (p.Val170=)
NM_000551.4(VHL):c.510C>G (p.Val170=)
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.516T>G (p.Pro172=) rs1575932227
NM_000551.4(VHL):c.519G>A (p.Glu173=)
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.522T>C (p.Asn174=) rs1057523911
NM_000551.4(VHL):c.524A>G (p.Tyr175Cys) rs193922613
NM_000551.4(VHL):c.524A>T (p.Tyr175Phe) rs193922613
NM_000551.4(VHL):c.524dup (p.Tyr175Ter)
NM_000551.4(VHL):c.525C>G (p.Tyr175Ter) rs5030835
NM_000551.4(VHL):c.525C>T (p.Tyr175=) rs5030835
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.532C>T (p.Leu178=) rs755146587
NM_000551.4(VHL):c.533T>C (p.Leu178Pro) rs5030822
NM_000551.4(VHL):c.533_534del (p.Leu178fs) rs1559429736
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.537C>T (p.Asp179=)
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.540_543del (p.Val181fs) rs869025664
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>A (p.Ser183Ter) rs5030823
NM_000551.4(VHL):c.548C>G (p.Ser183Trp) rs5030823
NM_000551.4(VHL):c.549G>T (p.Ser183=) rs193922614
NM_000551.4(VHL):c.550C>G (p.Leu184Val) rs1696361913
NM_000551.4(VHL):c.552C>G (p.Leu184=)
NM_000551.4(VHL):c.553T>C (p.Tyr185His) rs768390987
NM_000551.4(VHL):c.554A>T (p.Tyr185Phe)
NM_000551.4(VHL):c.555C>A (p.Tyr185Ter)
NM_000551.4(VHL):c.555C>G (p.Tyr185Ter) rs864622109
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.562C>T (p.Leu188=)
NM_000551.4(VHL):c.563T>C (p.Leu188Pro) rs1559429824
NM_000551.4(VHL):c.563T>G (p.Leu188Arg) rs1559429824
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.570C>T (p.Asp190=) rs2125130723
NM_000551.4(VHL):c.571C>G (p.His191Asp) rs28940301
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.573C>T (p.His191=)
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.575C>G (p.Pro192Arg) rs902694906
NM_000551.4(VHL):c.575C>T (p.Pro192Leu) rs902694906
NM_000551.4(VHL):c.576A>C (p.Pro192=) rs1372952726
NM_000551.4(VHL):c.579T>A (p.Asn193Lys) rs1060503558
NM_000551.4(VHL):c.579T>C (p.Asn193=) rs1060503558
NM_000551.4(VHL):c.57C>A (p.Gly19=) rs1453582828
NM_000551.4(VHL):c.57C>T (p.Gly19=)
NM_000551.4(VHL):c.57del (p.Val20fs) rs1553619308
NM_000551.4(VHL):c.581T>G (p.Val194Gly) rs1131690963
NM_000551.4(VHL):c.582G>T (p.Val194=)
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.586A>T (p.Lys196Ter) rs281860296
NM_000551.4(VHL):c.588A>G (p.Lys196=) rs935543450
NM_000551.4(VHL):c.58G>C (p.Val20Leu)
NM_000551.4(VHL):c.591C>T (p.Asp197=) rs1575932584
NM_000551.4(VHL):c.592C>G (p.Leu198Val) rs1187217673
NM_000551.4(VHL):c.592C>T (p.Leu198=) rs1187217673
NM_000551.4(VHL):c.592_594del (p.Leu198del) rs2125130773
NM_000551.4(VHL):c.593T>A (p.Leu198Gln) rs869025667
NM_000551.4(VHL):c.594G>A (p.Leu198=) rs1575932599
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.597G>A (p.Glu199=) rs1387975369
NM_000551.4(VHL):c.599G>T (p.Arg200Leu) rs754016774
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.601C>T (p.Leu201=) rs786201557
NM_000551.4(VHL):c.603G>C (p.Leu201=)
NM_000551.4(VHL):c.606A>C (p.Thr202=) rs1575932637
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.609G>A (p.Gln203=)
NM_000551.4(VHL):c.60C>G (p.Val20=) rs1553619311
NM_000551.4(VHL):c.60C>T (p.Val20=)
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.618T>C (p.Ile206=) rs1575932691
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>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.630G>A (p.Arg210=) rs1575932755
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.63A>G (p.Glu21=) rs1696117984
NM_000551.4(VHL):c.640T>A (p.Ter214Arg) rs1575932781
NM_000551.4(VHL):c.640T>C (p.Ter214Arg)
NM_000551.4(VHL):c.641G>T (p.Ter214Leu) rs869025668
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.66G>A (p.Glu22=) rs768452685
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.69C>T (p.Tyr23=) rs1553619313
NM_000551.4(VHL):c.6C>G (p.Pro2=) rs1014417508
NM_000551.4(VHL):c.6C>T (p.Pro2=) rs1014417508
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.72C>A (p.Gly24=) rs1375079282
NM_000551.4(VHL):c.72C>T (p.Gly24=)
NM_000551.4(VHL):c.75T>C (p.Pro25=) rs1553619317
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>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.87C>A (p.Gly29=)
NM_000551.4(VHL):c.87C>T (p.Gly29=) rs987301475
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.93G>A (p.Glu31=) rs1438911242
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.99G>T (p.Ser33=)
NM_000551.4(VHL):c.99_113dup (p.Ala35_Gly39dup) rs1236159514
NM_000551.4(VHL):c.9G>C (p.Arg3=)
NM_000551.4(VHL):c.9G>T (p.Arg3=) rs1696113334
NM_000551.4(VHL):c.9_10insGCGG (p.Arg4fs) rs1559425474

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