NM_000551.4(VHL):c.463+8C>T
|
rs5030834
|
0.00051
|
NM_000551.4(VHL):c.629G>A (p.Arg210Gln)
|
rs138780791
|
0.00013
|
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)
|
rs28940298
|
0.00010
|
NM_000551.4(VHL):c.531A>G (p.Arg177=)
|
rs766088261
|
0.00006
|
NM_000551.4(VHL):c.552C>T (p.Leu184=)
|
rs779157605
|
0.00005
|
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.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.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.376G>A (p.Asp126Asn)
|
rs104893831
|
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.605C>T (p.Thr202Ile)
|
rs779514074
|
0.00002
|
NM_000551.4(VHL):c.620C>T (p.Ala207Val)
|
rs1060503549
|
0.00002
|
NM_000551.4(VHL):c.341-25_370dup
|
rs1553619923
|
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.385C>T (p.Leu129=)
|
rs369018004
|
0.00001
|
NM_000551.4(VHL):c.387G>T (p.Leu129=)
|
rs778846471
|
0.00001
|
NM_000551.4(VHL):c.408T>G (p.Phe136Leu)
|
rs878854125
|
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.464-3C>T
|
rs904414377
|
0.00001
|
NM_000551.4(VHL):c.465G>A (p.Val155=)
|
rs1696354036
|
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.507A>C (p.Leu169=)
|
rs878854126
|
0.00001
|
NM_000551.4(VHL):c.513G>T (p.Lys171Asn)
|
rs1365445365
|
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.561T>C (p.Asp187=)
|
rs370769257
|
0.00001
|
NM_000551.4(VHL):c.578A>G (p.Asn193Ser)
|
rs879254225
|
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.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_000551.3(VHL):c.464_480del17
|
|
|
NM_000551.4(VHL):c.340+832T>C
|
rs1696165411
|
|
NM_000551.4(VHL):c.341-1G>A
|
rs1575927648
|
|
NM_000551.4(VHL):c.341-3T>G
|
rs1131690965
|
|
NM_000551.4(VHL):c.341-4A>T
|
rs1559428033
|
|
NM_000551.4(VHL):c.341-5G>A
|
rs372340900
|
|
NM_000551.4(VHL):c.343C>T (p.His115Tyr)
|
|
|
NM_000551.4(VHL):c.344A>C (p.His115Pro)
|
rs5030812
|
|
NM_000551.4(VHL):c.344A>G (p.His115Arg)
|
rs5030812
|
|
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.351G>T (p.Trp117Cys)
|
rs727504215
|
|
NM_000551.4(VHL):c.353T>C (p.Leu118Pro)
|
rs5030830
|
|
NM_000551.4(VHL):c.353T>G (p.Leu118Arg)
|
rs5030830
|
|
NM_000551.4(VHL):c.355T>C (p.Phe119Leu)
|
rs1553619948
|
|
NM_000551.4(VHL):c.357C>A (p.Phe119Leu)
|
|
|
NM_000551.4(VHL):c.357C>G (p.Phe119Leu)
|
rs1559428077
|
|
NM_000551.4(VHL):c.358del (p.Arg120fs)
|
rs1131690956
|
|
NM_000551.4(VHL):c.363dup (p.Ala122fs)
|
rs1575927767
|
|
NM_000551.4(VHL):c.364G>A (p.Ala122Thr)
|
rs1064793291
|
|
NM_000551.4(VHL):c.365C>A (p.Ala122Glu)
|
|
|
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.378T>G (p.Asp126Glu)
|
rs764053615
|
|
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.387G>A (p.Leu129=)
|
|
|
NM_000551.4(VHL):c.388G>A (p.Val130Ile)
|
|
|
NM_000551.4(VHL):c.388G>C (p.Val130Leu)
|
rs104893830
|
|
NM_000551.4(VHL):c.388del (p.Val130fs)
|
rs1553619957
|
|
NM_000551.4(VHL):c.390del (p.Asn131fs)
|
|
|
NM_000551.4(VHL):c.391A>G (p.Asn131Asp)
|
|
|
NM_000551.4(VHL):c.393C>T (p.Asn131=)
|
|
|
NM_000551.4(VHL):c.395A>C (p.Gln132Pro)
|
rs1347416980
|
|
NM_000551.4(VHL):c.397A>C (p.Thr133Pro)
|
rs1131690961
|
|
NM_000551.4(VHL):c.398C>T (p.Thr133Ile)
|
rs1060503565
|
|
NM_000551.4(VHL):c.402_428del (p.Glu134_Val142del)
|
|
|
NM_000551.4(VHL):c.406T>C (p.Phe136Leu)
|
|
|
NM_000551.4(VHL):c.406T>G (p.Phe136Val)
|
|
|
NM_000551.4(VHL):c.407T>G (p.Phe136Cys)
|
rs5030833
|
|
NM_000551.4(VHL):c.409G>A (p.Val137Met)
|
|
|
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.417T>G (p.Ser139=)
|
rs1406004337
|
|
NM_000551.4(VHL):c.418C>G (p.Leu140Val)
|
rs768637170
|
|
NM_000551.4(VHL):c.418_419insA (p.Leu140fs)
|
rs1131690955
|
|
NM_000551.4(VHL):c.422A>G (p.Asn141Ser)
|
rs1064796570
|
|
NM_000551.4(VHL):c.422dup (p.Asn141fs)
|
rs1553619976
|
|
NM_000551.4(VHL):c.426del (p.Asp143fs)
|
|
|
NM_000551.4(VHL):c.430G>A (p.Gly144Arg)
|
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.432A>T (p.Gly144=)
|
|
|
NM_000551.4(VHL):c.433C>G (p.Gln145Glu)
|
rs749704215
|
|
NM_000551.4(VHL):c.435G>A (p.Gln145=)
|
|
|
NM_000551.4(VHL):c.435G>C (p.Gln145His)
|
rs771727849
|
|
NM_000551.4(VHL):c.437C>G (p.Pro146Arg)
|
|
|
NM_000551.4(VHL):c.439A>T (p.Ile147Phe)
|
|
|
NM_000551.4(VHL):c.445G>A (p.Ala149Thr)
|
rs587780077
|
|
NM_000551.4(VHL):c.445G>T (p.Ala149Ser)
|
rs587780077
|
|
NM_000551.4(VHL):c.447C>T (p.Ala149=)
|
rs2125128479
|
|
NM_000551.4(VHL):c.448A>C (p.Asn150His)
|
|
|
NM_000551.4(VHL):c.448A>G (p.Asn150Asp)
|
|
|
NM_000551.4(VHL):c.449A>G (p.Asn150Ser)
|
rs760184234
|
|
NM_000551.4(VHL):c.451A>C (p.Ile151Leu)
|
rs876659313
|
|
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.456A>G (p.Thr152=)
|
|
|
NM_000551.4(VHL):c.458T>A (p.Leu153Gln)
|
rs193922611
|
|
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.463+1G>A
|
rs869025657
|
|
NM_000551.4(VHL):c.463+1G>T
|
rs869025657
|
|
NM_000551.4(VHL):c.463+3A>C
|
rs1131690954
|
|
NM_000551.4(VHL):c.463+3A>G
|
rs1131690954
|
|
NM_000551.4(VHL):c.463+4C>G
|
|
|
NM_000551.4(VHL):c.463+5T>G
|
rs1003364563
|
|
NM_000551.4(VHL):c.463G>T (p.Val155Leu)
|
rs869025659
|
|
NM_000551.4(VHL):c.464-2A>G
|
rs5030816
|
|
NM_000551.4(VHL):c.464-7_464-3del
|
|
|
NM_000551.4(VHL):c.467A>G (p.Tyr156Cys)
|
rs397516441
|
|
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>G (p.Lys159Glu)
|
rs1575932011
|
|
NM_000551.4(VHL):c.477A>G (p.Lys159=)
|
rs1696354920
|
|
NM_000551.4(VHL):c.480G>A (p.Glu160=)
|
|
|
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.482G>C (p.Arg161Pro)
|
|
|
NM_000551.4(VHL):c.483_500dup (p.Cys162_Arg167dup)
|
rs1553620312
|
|
NM_000551.4(VHL):c.483del (p.Cys162fs)
|
rs1696355438
|
|
NM_000551.4(VHL):c.485G>A (p.Cys162Tyr)
|
rs397516444
|
|
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.489C>G (p.Leu163=)
|
rs1575932067
|
|
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.496G>T (p.Val166Phe)
|
rs104893825
|
|
NM_000551.4(VHL):c.497T>C (p.Val166Ala)
|
rs397516445
|
|
NM_000551.4(VHL):c.499C>G (p.Arg167Gly)
|
rs5030820
|
|
NM_000551.4(VHL):c.500G>A (p.Arg167Gln)
|
rs5030821
|
|
NM_000551.4(VHL):c.500G>C (p.Arg167Pro)
|
rs5030821
|
|
NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs)
|
rs398123483
|
|
NM_000551.4(VHL):c.506T>C (p.Leu169Pro)
|
rs1131690962
|
|
NM_000551.4(VHL):c.506del (p.Leu169fs)
|
|
|
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>T (p.Val170=)
|
|
|
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>T (p.Pro172Leu)
|
|
|
NM_000551.4(VHL):c.516T>G (p.Pro172=)
|
rs1575932227
|
|
NM_000551.4(VHL):c.517G>C (p.Glu173Gln)
|
|
|
NM_000551.4(VHL):c.517G>T (p.Glu173Ter)
|
rs1575932228
|
|
NM_000551.4(VHL):c.519G>A (p.Glu173=)
|
|
|
NM_000551.4(VHL):c.520A>T (p.Asn174Tyr)
|
rs1060503566
|
|
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.524_527del (p.Asn174_Tyr175insTer)
|
|
|
NM_000551.4(VHL):c.525C>T (p.Tyr175=)
|
rs5030835
|
|
NM_000551.4(VHL):c.529_546dup (p.Arg182_Ser183insArgLeuAspIleValArg)
|
|
|
NM_000551.4(VHL):c.532C>G (p.Leu178Val)
|
rs755146587
|
|
NM_000551.4(VHL):c.533T>C (p.Leu178Pro)
|
rs5030822
|
|
NM_000551.4(VHL):c.533T>G (p.Leu178Arg)
|
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.541G>A (p.Val181Ile)
|
rs878854127
|
|
NM_000551.4(VHL):c.541G>C (p.Val181Leu)
|
|
|
NM_000551.4(VHL):c.543dup (p.Arg182fs)
|
rs1131690958
|
|
NM_000551.4(VHL):c.545G>A (p.Arg182Lys)
|
rs749774529
|
|
NM_000551.4(VHL):c.548C>A (p.Ser183Ter)
|
rs5030823
|
|
NM_000551.4(VHL):c.549G>T (p.Ser183=)
|
rs193922614
|
|
NM_000551.4(VHL):c.552C>G (p.Leu184=)
|
|
|
NM_000551.4(VHL):c.555C>G (p.Tyr185Ter)
|
rs864622109
|
|
NM_000551.4(VHL):c.558A>C (p.Glu186Asp)
|
rs587778744
|
|
NM_000551.4(VHL):c.562C>T (p.Leu188=)
|
|
|
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>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.580G>A (p.Val194Met)
|
|
|
NM_000551.4(VHL):c.581T>G (p.Val194Gly)
|
rs1131690963
|
|
NM_000551.4(VHL):c.583C>T (p.Gln195Ter)
|
rs5030825
|
|
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.588del (p.Asp197fs)
|
|
|
NM_000551.4(VHL):c.592C>T (p.Leu198=)
|
rs1187217673
|
|
NM_000551.4(VHL):c.592_607del (p.Leu198fs)
|
|
|
NM_000551.4(VHL):c.593T>C (p.Leu198Pro)
|
rs869025667
|
|
NM_000551.4(VHL):c.597G>A (p.Glu199=)
|
rs1387975369
|
|
NM_000551.4(VHL):c.601C>T (p.Leu201=)
|
rs786201557
|
|
NM_000551.4(VHL):c.606A>C (p.Thr202=)
|
rs1575932637
|
|
NM_000551.4(VHL):c.607C>A (p.Gln203Lys)
|
rs750711842
|
|
NM_000551.4(VHL):c.607_608del (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>G (p.Arg205Gly)
|
rs199926195
|
|
NM_000551.4(VHL):c.613C>T (p.Arg205Cys)
|
rs199926195
|
|
NM_000551.4(VHL):c.614G>T (p.Arg205Leu)
|
rs777130107
|
|
NM_000551.4(VHL):c.615C>T (p.Arg205=)
|
|
|
NM_000551.4(VHL):c.621A>T (p.Ala207=)
|
|
|
NM_000551.4(VHL):c.622C>T (p.His208Tyr)
|
rs121913347
|
|
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.631A>T (p.Met211Leu)
|
|
|
NM_000551.4(VHL):c.636A>T (p.Gly212=)
|
|
|
NM_000551.4(VHL):c.639T>G (p.Asp213Glu)
|
|
|
NM_000551.4(VHL):c.640T>A (p.Ter214Arg)
|
rs1575932781
|
|