NC_000003.11:g.(?_10183526)_(10191655_?)dup


NC_000003.11:g.(?_10188188)_(10188330_?)dup


NC_000003.11:g.(?_10191461)_(10191659_?)dup


NC_000003.11:g.(?_10191471)_(10195354_?)dup


NC_000003.12:g.(?_10141635)_(10153670_?)del


NC_000003.12:g.(?_10141838)_(10149975_?)del


NC_000003.12:g.(?_10146504)_(10146646_?)del


NC_000003.12:g.(?_10146504)_(10149975_?)del


NC_000003.12:g.(?_10146508)_(10149971_?)del


NC_000003.12:g.(?_10146514)_(10146636_?)del


NC_000003.12:g.(?_10149777)_(10149975_?)del


NM_000551.3(VHL):c.34110G>C

rs140064807 
NM_000551.3(VHL):c.34125_370dup

rs1553619923 
NM_000551.3(VHL):c.3412A>G

rs869025637 
NM_000551.3(VHL):c.3414A>T

rs1559428033 
NM_000551.3(VHL):c.3415G>A

rs372340900 
NM_000551.3(VHL):c.3415G>T

rs372340900 
NM_000551.3(VHL):c.3416C>G

rs191201783 
NM_000551.3(VHL):c.3416C>T

rs191201783 
NM_000551.3(VHL):c.3418C>G

rs1272767361 
NM_000551.3(VHL):c.344A>G (p.His115Arg)

rs5030812 
NM_000551.3(VHL):c.345C>A (p.His115Gln)

rs864622646 
NM_000551.3(VHL):c.345C>T (p.His115=)

rs864622646 
NM_000551.3(VHL):c.347T>G (p.Leu116Arg)

rs879254230 
NM_000551.3(VHL):c.352_353insA (p.Leu118fs)

rs869025641 
NM_000551.3(VHL):c.353T>C (p.Leu118Pro)

rs5030830 
NM_000551.3(VHL):c.355T>C (p.Phe119Leu)

rs1553619948 
NM_000551.3(VHL):c.357C>G (p.Phe119Leu)

rs1559428077 
NM_000551.3(VHL):c.358A>G (p.Arg120Gly)

rs869025642 
NM_000551.3(VHL):c.362A>G (p.Asp121Gly)

rs5030832 
NM_000551.3(VHL):c.364G>T (p.Ala122Ser)

rs1064793291 
NM_000551.3(VHL):c.366A>G (p.Ala122=)

rs1474241640 
NM_000551.3(VHL):c.370A>G (p.Thr124Ala)

rs1559428091 
NM_000551.3(VHL):c.373C>T (p.His125Tyr)

rs375401722 
NM_000551.3(VHL):c.375C>T (p.His125=)

rs863224372 
NM_000551.3(VHL):c.376G>C (p.Asp126His)

rs104893831 
NM_000551.3(VHL):c.376G>T (p.Asp126Tyr)

rs104893831 
NM_000551.3(VHL):c.377A>G (p.Asp126Gly)

rs1354593943 
NM_000551.3(VHL):c.379_380insCAG (p.Gly127_Leu128insAla)

rs1559428103 
NM_000551.3(VHL):c.382C>T (p.Leu128Phe)

rs1553619956 
NM_000551.3(VHL):c.385C>G (p.Leu129Val)

rs369018004 
NM_000551.3(VHL):c.385C>T (p.Leu129=)

rs369018004 
NM_000551.3(VHL):c.387G>T (p.Leu129=)

rs778846471 
NM_000551.3(VHL):c.388G>C (p.Val130Leu)

rs104893830 
NM_000551.3(VHL):c.398C>T (p.Thr133Ile)

rs1060503565 
NM_000551.3(VHL):c.402A>G (p.Glu134=)

rs201482330 
NM_000551.3(VHL):c.408T>G (p.Phe136Leu)

rs878854125 
NM_000551.3(VHL):c.411G>C (p.Val137=)

rs1553619969 
NM_000551.3(VHL):c.416C>G (p.Ser139Cys)

rs587780732 
NM_000551.3(VHL):c.416C>T (p.Ser139Phe)

rs587780732 
NM_000551.3(VHL):c.418C>T (p.Leu140Phe)

rs768637170 
NM_000551.3(VHL):c.420C>A (p.Leu140=)

rs369465430 
NM_000551.3(VHL):c.422A>G (p.Asn141Ser)

rs1064796570 
NM_000551.3(VHL):c.425T>C (p.Val142Ala)

rs1553619979 
NM_000551.3(VHL):c.427G>C (p.Asp143His)

rs372757722 
NM_000551.3(VHL):c.429C>T (p.Asp143=)

rs773556807 
NM_000551.3(VHL):c.430G>A (p.Gly144Arg)

rs869025650 
NM_000551.3(VHL):c.430G>C (p.Gly144Arg)

rs869025650 
NM_000551.3(VHL):c.430G>T (p.Gly144Ter)

rs869025650 
NM_000551.3(VHL):c.434A>T (p.Gln145Leu)

rs864622313 
NM_000551.3(VHL):c.435G>C (p.Gln145His)

rs771727849 
NM_000551.3(VHL):c.437C>T (p.Pro146Leu)

rs1575928079 
NM_000551.3(VHL):c.440T>C (p.Ile147Thr)

rs1060503555 
NM_000551.3(VHL):c.449A>G (p.Asn150Ser)

rs760184234 
NM_000551.3(VHL):c.452T>C (p.Ile151Thr)

rs869025655 
NM_000551.3(VHL):c.460C>G (p.Pro154Ala)

rs1553619993 
NM_000551.3(VHL):c.460C>T (p.Pro154Ser)

rs1553619993 
NM_000551.3(VHL):c.461C>G (p.Pro154Arg)

rs1399097617 
NM_000551.3(VHL):c.461C>T (p.Pro154Leu)

rs1399097617 
NM_000551.3(VHL):c.462A>G (p.Pro154=)

rs1060503562 
NM_000551.3(VHL):c.463+1G>A

rs869025657 
NM_000551.3(VHL):c.463+2T>C

rs5030814 
NM_000551.3(VHL):c.463+4C>T

rs879253989 
NM_000551.3(VHL):c.463+9G>A

rs1057522720 
NM_000551.3(VHL):c.46410G>A

rs552930903 
NM_000551.3(VHL):c.4642A>G

rs5030816 
NM_000551.3(VHL):c.4643C>T

rs904414377 
NM_000551.3(VHL):c.464?_*3705del


NM_000551.3(VHL):c.472C>G (p.Leu158Val)

rs1559429613 
NM_000551.3(VHL):c.473T>C (p.Leu158Pro)

rs121913346 
NM_000551.3(VHL):c.482G>A (p.Arg161Gln)

rs730882035 
NM_000551.3(VHL):c.484T>C (p.Cys162Arg)

rs1553620313 
NM_000551.3(VHL):c.486C>A (p.Cys162Ter)

rs5030622 
NM_000551.3(VHL):c.486C>G (p.Cys162Trp)

rs5030622 
NM_000551.3(VHL):c.487C>T (p.Leu163Phe)

rs1553620318 
NM_000551.3(VHL):c.488T>C (p.Leu163Pro)

rs28940297 
NM_000551.3(VHL):c.488T>G (p.Leu163Arg)

rs28940297 
NM_000551.3(VHL):c.490C>T (p.Gln164Ter)

rs5030819 
NM_000551.3(VHL):c.491A>G (p.Gln164Arg)

rs267607170 
NM_000551.3(VHL):c.492G>T (p.Gln164His)

rs1352275281 
NM_000551.3(VHL):c.493G>T (p.Val165Phe)

rs1575932103 
NM_000551.3(VHL):c.494T>G (p.Val165Gly)

rs1575932110 
NM_000551.3(VHL):c.499C>G (p.Arg167Gly)

rs5030820 
NM_000551.3(VHL):c.499C>T (p.Arg167Trp)

rs5030820 
NM_000551.3(VHL):c.500G>T (p.Arg167Leu)

rs5030821 
NM_000551.3(VHL):c.501_502insTTGTCCGT (p.Ser168fs)

rs398123483 
NM_000551.3(VHL):c.504C>T (p.Ser168=)

rs1553620323 
NM_000551.3(VHL):c.507A>C (p.Leu169=)

rs878854126 
NM_000551.3(VHL):c.508G>A (p.Val170Ile)

rs1553620326 
NM_000551.3(VHL):c.513G>T (p.Lys171Asn)

rs1365445365 
NM_000551.3(VHL):c.520A>T (p.Asn174Tyr)

rs1060503566 
NM_000551.3(VHL):c.521A>G (p.Asn174Ser)

rs1575932235 
NM_000551.3(VHL):c.524A>G (p.Tyr175Cys)

rs193922613 
NM_000551.3(VHL):c.525C>G (p.Tyr175Ter)

rs5030835 
NM_000551.3(VHL):c.526A>G (p.Arg176Gly)

rs1575932259 
NM_000551.3(VHL):c.532C>G (p.Leu178Val)

rs755146587 
NM_000551.3(VHL):c.533T>C (p.Leu178Pro)

rs5030822 
NM_000551.3(VHL):c.535G>A (p.Asp179Asn)

rs767780451 
NM_000551.3(VHL):c.538A>G (p.Ile180Val)

rs377715747 
NM_000551.3(VHL):c.540C>T (p.Ile180=)

rs374927292 
NM_000551.3(VHL):c.541G>A (p.Val181Ile)

rs878854127 
NM_000551.3(VHL):c.542T>C (p.Val181Ala)

rs1553620340 
NM_000551.3(VHL):c.544A>G (p.Arg182Gly)

rs778205243 
NM_000551.3(VHL):c.545G>A (p.Arg182Lys)

rs749774529 
NM_000551.3(VHL):c.548C>A (p.Ser183Ter)

rs5030823 
NM_000551.3(VHL):c.549G>A (p.Ser183=)

rs193922614 
NM_000551.3(VHL):c.549G>T (p.Ser183=)

rs193922614 
NM_000551.3(VHL):c.552C>T (p.Leu184=)

rs779157605 
NM_000551.3(VHL):c.553T>C (p.Tyr185His)

rs768390987 
NM_000551.3(VHL):c.554A>G (p.Tyr185Cys)

rs561874453 
NM_000551.3(VHL):c.555C>T (p.Tyr185=)

rs864622109 
NM_000551.3(VHL):c.556G>A (p.Glu186Lys)

rs367545984 
NM_000551.3(VHL):c.558A>C (p.Glu186Asp)

rs587778744 
NM_000551.3(VHL):c.561T>C (p.Asp187=)

rs370769257 
NM_000551.3(VHL):c.571C>G (p.His191Asp)

rs28940301 
NM_000551.3(VHL):c.572A>C (p.His191Pro)

rs370050374 
NM_000551.3(VHL):c.572A>G (p.His191Arg)

rs370050374 
NM_000551.3(VHL):c.574C>T (p.Pro192Ser)

rs28940300 
NM_000551.3(VHL):c.575C>T (p.Pro192Leu)

rs902694906 
NM_000551.3(VHL):c.578A>G (p.Asn193Ser)

rs879254225 
NM_000551.3(VHL):c.579T>A (p.Asn193Lys)

rs1060503558 
NM_000551.3(VHL):c.579T>C (p.Asn193=)

rs1060503558 
NM_000551.3(VHL):c.581T>G (p.Val194Gly)

rs1131690963 
NM_000551.3(VHL):c.585G>C (p.Gln195His)

rs878854128 
NM_000551.3(VHL):c.586A>G (p.Lys196Glu)

rs281860296 
NM_000551.3(VHL):c.590A>C (p.Asp197Ala)

rs752940316 
NM_000551.3(VHL):c.596A>C (p.Glu199Ala)

rs760690217 
NM_000551.3(VHL):c.599G>A (p.Arg200Gln)

rs754016774 
NM_000551.3(VHL):c.605C>T (p.Thr202Ile)

rs779514074 
NM_000551.3(VHL):c.610G>C (p.Glu204Gln)

rs758853661 
NM_000551.3(VHL):c.610G>T (p.Glu204Ter)

rs758853661 
NM_000551.3(VHL):c.612G>A (p.Glu204=)

rs747805018 
NM_000551.3(VHL):c.613C>G (p.Arg205Gly)

rs199926195 
NM_000551.3(VHL):c.613C>T (p.Arg205Cys)

rs199926195 
NM_000551.3(VHL):c.614G>A (p.Arg205His)

rs777130107 
NM_000551.3(VHL):c.614G>T (p.Arg205Leu)

rs777130107 
NM_000551.3(VHL):c.620C>T (p.Ala207Val)

rs1060503549 
NM_000551.3(VHL):c.625C>G (p.Gln209Glu)

rs1559429968 
NM_000551.3(VHL):c.628C>T (p.Arg210Trp)

rs774380450 
NM_000551.3(VHL):c.629G>A (p.Arg210Gln)

rs138780791 
NM_000551.3(VHL):c.631A>C (p.Met211Leu)

rs200019083 
NM_000551.3(VHL):c.632T>C (p.Met211Thr)

rs1366708242 
NM_000551.3(VHL):c.634G>T (p.Gly212Ter)

rs1553620389 
NM_000551.3(VHL):c.638A>G (p.Asp213Gly)

rs1553620394 
NM_000551.3(VHL):c.639T>C (p.Asp213=)

rs775624944 
NM_000551.4(VHL):c.340+577C>G


NM_000551.4(VHL):c.340+578C>T


NM_000551.4(VHL):c.340+590G>C


NM_000551.4(VHL):c.340+592G>A


NM_000551.4(VHL):c.340+595C>A


NM_000551.4(VHL):c.340+595C>T


NM_000551.4(VHL):c.340+601C>G


NM_000551.4(VHL):c.340+604C>T


NM_000551.4(VHL):c.340+608del


NM_000551.4(VHL):c.340+616C>T


NM_000551.4(VHL):c.340+627A>C


NM_000551.4(VHL):c.340+631A>T


NM_000551.4(VHL):c.340+634C>T


NM_000551.4(VHL):c.340+637C>A


NM_000551.4(VHL):c.340+646A>G


NM_000551.4(VHL):c.340+646A>T


NM_000551.4(VHL):c.340+652A>C


NM_000551.4(VHL):c.340+653_340+654del


NM_000551.4(VHL):c.340+672G>T


NM_000551.4(VHL):c.340+681A>T


NM_000551.4(VHL):c.340+682T>C


NM_000551.4(VHL):c.340+688C>T


NM_000551.4(VHL):c.340+691C>G


NM_000551.4(VHL):c.340+694_340+711dup

rs1575923363 
NM_000551.4(VHL):c.340+696G>T


NM_000551.4(VHL):c.340+701G>A


NM_000551.4(VHL):c.340+704C>T


NM_000551.4(VHL):c.340+705G>A


NM_000551.4(VHL):c.340+705G>C


NM_000551.4(VHL):c.340+706T>G


NM_000551.4(VHL):c.340+709G>T


NM_000551.4(VHL):c.340+713C>T


NM_000551.4(VHL):c.340+714G>C


NM_000551.4(VHL):c.340+724G>C


NM_000551.4(VHL):c.340+727T>G


NM_000551.4(VHL):c.340+728dup


NM_000551.4(VHL):c.340+730C>A


NM_000551.4(VHL):c.340+730C>G


NM_000551.4(VHL):c.340+730C>T


NM_000551.4(VHL):c.340+732T>G


NM_000551.4(VHL):c.340+737G>C


NM_000551.4(VHL):c.340+738C>T


NM_000551.4(VHL):c.340+742G>T


NM_000551.4(VHL):c.340+751G>T


NM_000551.4(VHL):c.340+752G>A


NM_000551.4(VHL):c.340+756G>C


NM_000551.4(VHL):c.340+760T>C


NM_000551.4(VHL):c.340+770T>A


NM_000551.4(VHL):c.340+770T>C

rs1346312258 
NM_000551.4(VHL):c.340+784C>T


NM_000551.4(VHL):c.340+788C>G


NM_000551.4(VHL):c.340+789C>T


NM_000551.4(VHL):c.340+790G>A


NM_000551.4(VHL):c.340+791G>A


NM_000551.4(VHL):c.340+797G>T


NM_000551.4(VHL):c.340+800G>A


NM_000551.4(VHL):c.340+806A>T


NM_000551.4(VHL):c.340+808G>A


NM_000551.4(VHL):c.340+809A>G


NM_000551.4(VHL):c.340+811G>C


NM_000551.4(VHL):c.340+812G>C


NM_000551.4(VHL):c.340+814G>T


NM_000551.4(VHL):c.340+816A>C


NM_000551.4(VHL):c.340+818G>A


NM_000551.4(VHL):c.340+819A>G


NM_000551.4(VHL):c.340+821C>G


NM_000551.4(VHL):c.340+825C>G


NM_000551.4(VHL):c.340+828A>G


NM_000551.4(VHL):c.340+829C>T


NM_000551.4(VHL):c.340+830C>T


NM_000551.4(VHL):c.340+831C>T


NM_000551.4(VHL):c.3411_342dup


NM_000551.4(VHL):c.349T>G (p.Trp117Gly)


NM_000551.4(VHL):c.362A>T (p.Asp121Val)


NM_000551.4(VHL):c.363dup (p.Ala122fs)

rs1575927767 
NM_000551.4(VHL):c.365C>G (p.Ala122Gly)


NM_000551.4(VHL):c.366A>C (p.Ala122=)

rs1474241640 
NM_000551.4(VHL):c.376G>A (p.Asp126Asn)

rs104893831 
NM_000551.4(VHL):c.376_382delinsAA (p.Asp126fs)


NM_000551.4(VHL):c.377_379dup (p.Asp126dup)


NM_000551.4(VHL):c.387G>C (p.Leu129=)

rs778846471 
NM_000551.4(VHL):c.413C>T (p.Pro138Leu)

rs780178275 
NM_000551.4(VHL):c.414A>G (p.Pro138=)

rs869025648 
NM_000551.4(VHL):c.420C>T (p.Leu140=)

rs369465430 
NM_000551.4(VHL):c.421A>C (p.Asn141His)


NM_000551.4(VHL):c.421A>G (p.Asn141Asp)


NM_000551.4(VHL):c.432A>G (p.Gly144=)

rs1575928044 
NM_000551.4(VHL):c.433C>A (p.Gln145Lys)


NM_000551.4(VHL):c.439A>G (p.Ile147Val)

rs1057517560 
NM_000551.4(VHL):c.448_449del (p.Asn150fs)


NM_000551.4(VHL):c.451A>G (p.Ile151Val)


NM_000551.4(VHL):c.463+5T>G


NM_000551.4(VHL):c.463+8C>T

rs5030834 
NM_000551.4(VHL):c.4641G>A

rs5030817 
NM_000551.4(VHL):c.467A>G (p.Tyr156Cys)

rs397516441 
NM_000551.4(VHL):c.471T>C (p.Thr157=)

rs1252473811 
NM_000551.4(VHL):c.474G>T (p.Leu158=)

rs1575932005 
NM_000551.4(VHL):c.477A>G (p.Lys159=)


NM_000551.4(VHL):c.478G>C (p.Glu160Gln)


NM_000551.4(VHL):c.481C>T (p.Arg161Ter)

rs5030818 
NM_000551.4(VHL):c.489C>G (p.Leu163=)

rs1575932067 
NM_000551.4(VHL):c.500G>A (p.Arg167Gln)

rs5030821 
NM_000551.4(VHL):c.505dup (p.Leu169fs)


NM_000551.4(VHL):c.516T>G (p.Pro172=)

rs1575932227 
NM_000551.4(VHL):c.525C>T (p.Tyr175=)

rs5030835 
NM_000551.4(VHL):c.531A>G (p.Arg177=)

rs766088261 
NM_000551.4(VHL):c.545G>C (p.Arg182Thr)


NM_000551.4(VHL):c.548C>T (p.Ser183Leu)

rs5030823 
NM_000551.4(VHL):c.562C>G (p.Leu188Val)

rs5030824 
NM_000551.4(VHL):c.563T>G (p.Leu188Arg)


NM_000551.4(VHL):c.576A>C (p.Pro192=)

rs1372952726 
NM_000551.4(VHL):c.591C>T (p.Asp197=)

rs1575932584 
NM_000551.4(VHL):c.594G>C (p.Leu198=)

rs1575932599 
NM_000551.4(VHL):c.595G>A (p.Glu199Lys)


NM_000551.4(VHL):c.596A>G (p.Glu199Gly)


NM_000551.4(VHL):c.596A>T (p.Glu199Val)


NM_000551.4(VHL):c.598C>T (p.Arg200Trp)

rs28940298 
NM_000551.4(VHL):c.599G>T (p.Arg200Leu)


NM_000551.4(VHL):c.606A>C (p.Thr202=)

rs1575932637 
NM_000551.4(VHL):c.606A>G (p.Thr202=)

rs1575932637 
NM_000551.4(VHL):c.606dup (p.Gln203fs)


NM_000551.4(VHL):c.622C>T (p.His208Tyr)


NM_000551.4(VHL):c.630G>A (p.Arg210=)

rs1575932755 
NM_000551.4(VHL):c.634G>A (p.Gly212Arg)


NM_001354723.2(VHL):c.*122_*124dup

rs1559429840 
NM_001354723.2(VHL):c.*171_*172delinsAG

rs1060503567 
NM_001354723.2(VHL):c.*31del

rs730882020 
NM_001354723.2(VHL):c.*94_*97del

rs869025664 
NM_198156.3(VHL):c.3413165del

rs794727253 
NM_198156.3(VHL):c.3413179_3413178del

rs869025652 
NM_198156.3(VHL):c.3413192dup

rs1553619976 
NM_198156.3(VHL):c.3413199TC[2]

rs869025649 
NM_198156.3(VHL):c.3413237del

rs1553619952 
NM_198156.3(VHL):c.3413244AC[2]

rs869025644 