ClinVar Miner

List of variants studied for Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 762
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HGVS dbSNP
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.(?_10180443_10183830del
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.(?_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_?)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.(?_10146504)_(10150035_?)del
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
NM_000551.3(VHL):c.*7C>G rs778005138
NM_000551.3(VHL):c.-61_-51dup rs727503743
NM_000551.3(VHL):c.103_117dup (p.Ala35_Gly39dup) rs1553619337
NM_000551.3(VHL):c.104C>A (p.Ala35Asp) rs587780536
NM_000551.3(VHL):c.104C>T (p.Ala35Val) rs587780536
NM_000551.3(VHL):c.105C>G (p.Ala35=) rs1310829877
NM_000551.3(VHL):c.108G>A (p.Glu36=) rs1553619344
NM_000551.3(VHL):c.112_156dup (p.Ser38_Glu52dup) rs1575921303
NM_000551.3(VHL):c.113C>T (p.Ser38Phe) rs867958699
NM_000551.3(VHL):c.114C>T (p.Ser38=) rs417164
NM_000551.3(VHL):c.115G>C (p.Gly39Arg) rs768650092
NM_000551.3(VHL):c.116G>A (p.Gly39Asp) rs368473853
NM_000551.3(VHL):c.117C>T (p.Gly39=) rs1057521552
NM_000551.3(VHL):c.119C>T (p.Pro40Leu) rs200343185
NM_000551.3(VHL):c.11G>T (p.Arg4Met) rs886057703
NM_000551.3(VHL):c.123_137dup (p.38_42SGPEE[3]) rs863224839
NM_000551.3(VHL):c.12G>A (p.Arg4=) rs1553619274
NM_000551.3(VHL):c.130G>A (p.Gly44Ser) rs1575921446
NM_000551.3(VHL):c.133C>G (p.Pro45Ala) rs1575921452
NM_000551.3(VHL):c.134C>G (p.Pro45Arg) rs199583685
NM_000551.3(VHL):c.134C>T (p.Pro45Leu) rs199583685
NM_000551.3(VHL):c.135G>A (p.Pro45=) rs773519476
NM_000551.3(VHL):c.139G>A (p.Glu47Lys) rs1457039250
NM_000551.3(VHL):c.13G>C (p.Ala5Pro) rs1559425498
NM_000551.3(VHL):c.143T>G (p.Leu48Arg) rs199959170
NM_000551.3(VHL):c.149C>T (p.Ala50Val) rs766576246
NM_000551.3(VHL):c.14C>T (p.Ala5Val) rs755333116
NM_000551.3(VHL):c.150C>A (p.Ala50=) rs61751580
NM_000551.3(VHL):c.151G>A (p.Glu51Lys) rs1480825246
NM_000551.3(VHL):c.154G>A (p.Glu52Lys) rs373068386
NM_000551.3(VHL):c.159G>A (p.Glu53=) rs1553619385
NM_000551.3(VHL):c.163dup (p.Glu55fs) rs869025615
NM_000551.3(VHL):c.164A>G (p.Glu55Gly) rs1328776664
NM_000551.3(VHL):c.165G>A (p.Glu55=) rs1553619391
NM_000551.3(VHL):c.167C>G (p.Ala56Gly) rs752980085
NM_000551.3(VHL):c.167C>T (p.Ala56Val) rs752980085
NM_000551.3(VHL):c.168C>T (p.Ala56=) rs864622714
NM_000551.3(VHL):c.169G>C (p.Gly57Arg) rs1064795194
NM_000551.3(VHL):c.169G>T (p.Gly57Trp) rs1064795194
NM_000551.3(VHL):c.170G>C (p.Gly57Ala) rs764755691
NM_000551.3(VHL):c.172C>A (p.Arg58=) rs757781272
NM_000551.3(VHL):c.172C>T (p.Arg58Trp) rs757781272
NM_000551.3(VHL):c.173G>A (p.Arg58Gln) rs1553619400
NM_000551.3(VHL):c.175C>T (p.Pro59Ser) rs876659041
NM_000551.3(VHL):c.178C>G (p.Arg60Gly) rs1035077469
NM_000551.3(VHL):c.179_192del (p.Arg60fs) rs1064796408
NM_000551.3(VHL):c.181C>G (p.Pro61Ala) rs113612866
NM_000551.3(VHL):c.181C>T (p.Pro61Ser) rs113612866
NM_000551.3(VHL):c.182C>G (p.Pro61Arg) rs746582207
NM_000551.3(VHL):c.182C>T (p.Pro61Leu) rs746582207
NM_000551.3(VHL):c.183C>G (p.Pro61=) rs63650860
NM_000551.3(VHL):c.183C>T (p.Pro61=) rs63650860
NM_000551.3(VHL):c.188T>A (p.Leu63Gln) rs104893827
NM_000551.3(VHL):c.188T>C (p.Leu63Pro) rs104893827
NM_000551.3(VHL):c.18G>T (p.Glu6Asp) rs1004620245
NM_000551.3(VHL):c.191G>A (p.Arg64His) rs104893826
NM_000551.3(VHL):c.191G>C (p.Arg64Pro) rs104893826
NM_000551.3(VHL):c.192C>T (p.Arg64=) rs1012545817
NM_000551.3(VHL):c.194C>A (p.Ser65Ter) rs5030826
NM_000551.3(VHL):c.194C>T (p.Ser65Leu) rs5030826
NM_000551.3(VHL):c.195G>C (p.Ser65=) rs1553619409
NM_000551.3(VHL):c.1A>G (p.Met1Val) rs1060503557
NM_000551.3(VHL):c.1A>T (p.Met1Leu) rs1060503557
NM_000551.3(VHL):c.203C>A (p.Ser68Ter) rs869025617
NM_000551.3(VHL):c.203C>T (p.Ser68Leu) rs869025617
NM_000551.3(VHL):c.205C>G (p.Arg69Gly) rs1428175816
NM_000551.3(VHL):c.207C>T (p.Arg69=) rs1060503550
NM_000551.3(VHL):c.209A>G (p.Glu70Gly) rs786202857
NM_000551.3(VHL):c.20A>C (p.Asn7Thr) rs1575920892
NM_000551.3(VHL):c.213C>G (p.Pro71=) rs201663073
NM_000551.3(VHL):c.213C>T (p.Pro71=) rs201663073
NM_000551.3(VHL):c.214T>C (p.Ser72Pro) rs869025618
NM_000551.3(VHL):c.216C>T (p.Ser72=) rs774557051
NM_000551.3(VHL):c.217C>G (p.Gln73Glu) rs869025619
NM_000551.3(VHL):c.217C>T (p.Gln73Ter) rs869025619
NM_000551.3(VHL):c.218A>G (p.Gln73Arg) rs1295818809
NM_000551.3(VHL):c.219G>C (p.Gln73His) rs1575921862
NM_000551.3(VHL):c.21C>A (p.Asn7Lys) rs1060503561
NM_000551.3(VHL):c.21C>T (p.Asn7=) rs1060503561
NM_000551.3(VHL):c.221T>C (p.Val74Ala) rs5030803
NM_000551.3(VHL):c.223A>C (p.Ile75Leu) rs1060503554
NM_000551.3(VHL):c.223A>G (p.Ile75Val) rs1060503554
NM_000551.3(VHL):c.224T>G (p.Ile75Ser) rs1064794271
NM_000551.3(VHL):c.225C>G (p.Ile75Met) rs768104793
NM_000551.3(VHL):c.225C>T (p.Ile75=) rs768104793
NM_000551.3(VHL):c.226_227del (p.Phe76fs) rs1060503552
NM_000551.3(VHL):c.227T>G (p.Phe76Cys) rs730882033
NM_000551.3(VHL):c.22T>C (p.Trp8Arg) rs1352171735
NM_000551.3(VHL):c.233A>C (p.Asn78Thr) rs5030804
NM_000551.3(VHL):c.233A>G (p.Asn78Ser) rs5030804
NM_000551.3(VHL):c.233A>T (p.Asn78Ile) rs5030804
NM_000551.3(VHL):c.235C>G (p.Arg79Gly) rs200885420
NM_000551.3(VHL):c.235C>T (p.Arg79Cys) rs200885420
NM_000551.3(VHL):c.238A>G (p.Ser80Gly) rs786202787
NM_000551.3(VHL):c.239G>T (p.Ser80Ile) rs5030805
NM_000551.3(VHL):c.23G>A (p.Trp8Ter) rs1060503551
NM_000551.3(VHL):c.240T>C (p.Ser80=) rs1553619424
NM_000551.3(VHL):c.242C>T (p.Pro81Leu) rs193922608
NM_000551.3(VHL):c.245G>T (p.Arg82Leu) rs794726890
NM_000551.3(VHL):c.246C>T (p.Arg82=) rs587780993
NM_000551.3(VHL):c.249C>G (p.Val83=) rs1271292937
NM_000551.3(VHL):c.250G>A (p.Val84Met) rs5030827
NM_000551.3(VHL):c.250G>C (p.Val84Leu) rs5030827
NM_000551.3(VHL):c.251T>C (p.Val84Ala) rs1264207864
NM_000551.3(VHL):c.254T>C (p.Leu85Pro) rs5030828
NM_000551.3(VHL):c.255G>A (p.Leu85=) rs876658508
NM_000551.3(VHL):c.255G>T (p.Leu85=) rs876658508
NM_000551.3(VHL):c.256C>G (p.Pro86Ala) rs398123481
NM_000551.3(VHL):c.257C>G (p.Pro86Arg) rs730882034
NM_000551.3(VHL):c.257C>T (p.Pro86Leu) rs730882034
NM_000551.3(VHL):c.258C>G (p.Pro86=) rs781063331
NM_000551.3(VHL):c.258del (p.Val87fs) rs864622545
NM_000551.3(VHL):c.25G>A (p.Asp9Asn) rs587780730
NM_000551.3(VHL):c.25G>C (p.Asp9His) rs587780730
NM_000551.3(VHL):c.262T>A (p.Trp88Arg) rs1553619431
NM_000551.3(VHL):c.262T>C (p.Trp88Arg) rs1553619431
NM_000551.3(VHL):c.263G>A (p.Trp88Ter) rs119103277
NM_000551.3(VHL):c.264G>C (p.Trp88Cys) rs869025622
NM_000551.3(VHL):c.264G>T (p.Trp88Cys) rs869025622
NM_000551.3(VHL):c.265C>T (p.Leu89Phe) rs1575922124
NM_000551.3(VHL):c.266T>C (p.Leu89Pro) rs5030807
NM_000551.3(VHL):c.267C>T (p.Leu89=) rs755794553
NM_000551.3(VHL):c.269A>C (p.Asn90Thr) rs143985153
NM_000551.3(VHL):c.26A>C (p.Asp9Ala) rs1060503560
NM_000551.3(VHL):c.273C>A (p.Phe91Leu) rs1060503563
NM_000551.3(VHL):c.274G>T (p.Asp92Tyr) rs587780731
NM_000551.3(VHL):c.275A>T (p.Asp92Val) rs749091984
NM_000551.3(VHL):c.276C>T (p.Asp92=) rs1442093467
NM_000551.3(VHL):c.277G>A (p.Gly93Ser) rs5030808
NM_000551.3(VHL):c.277G>C (p.Gly93Arg) rs5030808
NM_000551.3(VHL):c.277_294del (p.Gly93_Tyr98del) rs1559426059
NM_000551.3(VHL):c.278_279delinsTT (p.Gly93Val) rs1559426072
NM_000551.3(VHL):c.27C>A (p.Asp9Glu) rs1017141110
NM_000551.3(VHL):c.27C>T (p.Asp9=) rs1017141110
NM_000551.3(VHL):c.280G>A (p.Glu94Lys) rs5030829
NM_000551.3(VHL):c.280G>T (p.Glu94Ter) rs5030829
NM_000551.3(VHL):c.283C>T (p.Pro95Ser) rs1376530057
NM_000551.3(VHL):c.284C>T (p.Pro95Leu) rs964996401
NM_000551.3(VHL):c.285G>T (p.Pro95=) rs975432073
NM_000551.3(VHL):c.289C>A (p.Pro97Thr) rs863224688
NM_000551.3(VHL):c.289C>T (p.Pro97Ser) rs863224688
NM_000551.3(VHL):c.28G>A (p.Glu10Lys) rs1057519261
NM_000551.3(VHL):c.28G>T (p.Glu10Ter) rs1057519261
NM_000551.3(VHL):c.291C>G (p.Pro97=) rs1805159
NM_000551.3(VHL):c.291_302del (p.Tyr98_Leu101del) rs1575922296
NM_000551.3(VHL):c.292T>C (p.Tyr98His) rs5030809
NM_000551.3(VHL):c.293A>C (p.Tyr98Ser) rs864321643
NM_000551.3(VHL):c.293A>G (p.Tyr98Cys) rs864321643
NM_000551.3(VHL):c.296C>G (p.Pro99Arg) rs1553619452
NM_000551.3(VHL):c.297A>C (p.Pro99=) rs774753107
NM_000551.3(VHL):c.298A>G (p.Thr100Ala) rs745901803
NM_000551.3(VHL):c.299C>T (p.Thr100Met) rs1346874866
NM_000551.3(VHL):c.29A>T (p.Glu10Val) rs786204065
NM_000551.3(VHL):c.305C>T (p.Pro102Leu) rs1379270197
NM_000551.3(VHL):c.307C>G (p.Pro103Ala) rs864622267
NM_000551.3(VHL):c.30G>C (p.Glu10Asp) rs963501454
NM_000551.3(VHL):c.30G>T (p.Glu10Asp) rs963501454
NM_000551.3(VHL):c.311G>C (p.Gly104Ala) rs869025630
NM_000551.3(VHL):c.312C>T (p.Gly104=) rs946898891
NM_000551.3(VHL):c.315G>A (p.Thr105=) rs769102979
NM_000551.3(VHL):c.315G>C (p.Thr105=) rs769102979
NM_000551.3(VHL):c.31G>C (p.Ala11Pro) rs1236604706
NM_000551.3(VHL):c.320G>A (p.Arg107His) rs193922609
NM_000551.3(VHL):c.320G>C (p.Arg107Pro) rs193922609
NM_000551.3(VHL):c.323G>A (p.Arg108His) rs367594943
NM_000551.3(VHL):c.324C>T (p.Arg108=) rs878854124
NM_000551.3(VHL):c.331A>G (p.Ser111Gly) rs1559426203
NM_000551.3(VHL):c.331A>T (p.Ser111Cys) rs1559426203
NM_000551.3(VHL):c.333C>G (p.Ser111Arg) rs765978945
NM_000551.3(VHL):c.333C>T (p.Ser111=) rs765978945
NM_000551.3(VHL):c.334T>C (p.Tyr112His) rs104893824
NM_000551.3(VHL):c.335A>G (p.Tyr112Cys) rs869025633
NM_000551.3(VHL):c.336C>G (p.Tyr112Ter) rs751232153
NM_000551.3(VHL):c.337C>T (p.Arg113Ter) rs5030810
NM_000551.3(VHL):c.338G>C (p.Arg113Pro) rs767062290
NM_000551.3(VHL):c.339_340+5del rs1575922562
NM_000551.3(VHL):c.340+1G>A rs730882032
NM_000551.3(VHL):c.340+3A>G rs1575922597
NM_000551.3(VHL):c.340+6G>A rs1278726013
NM_000551.3(VHL):c.340+7G>C rs869025635
NM_000551.3(VHL):c.340+8C>A rs756068442
NM_000551.3(VHL):c.340+8C>T rs756068442
NM_000551.3(VHL):c.340G>A (p.Gly114Ser) rs869025636
NM_000551.3(VHL):c.341-10G>C rs140064807
NM_000551.3(VHL):c.341-25_370dup rs1553619923
NM_000551.3(VHL):c.341-2A>G rs869025637
NM_000551.3(VHL):c.341-4A>T rs1559428033
NM_000551.3(VHL):c.341-5G>A rs372340900
NM_000551.3(VHL):c.341-5G>T rs372340900
NM_000551.3(VHL):c.341-6C>G rs191201783
NM_000551.3(VHL):c.341-6C>T rs191201783
NM_000551.3(VHL):c.341-8C>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.34G>C (p.Glu12Gln) rs1064794788
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.36G>C (p.Glu12Asp) rs973493604
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.377A>G (p.Asp126Gly) rs1354593943
NM_000551.3(VHL):c.379_380insCAG (p.Gly127_Leu128insAla) rs1559428103
NM_000551.3(VHL):c.37G>A (p.Val13Ile) rs919338576
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.387G>T (p.Leu129=) rs778846471
NM_000551.3(VHL):c.388G>C (p.Val130Leu) rs104893830
NM_000551.3(VHL):c.38T>G (p.Val13Gly) rs1553619289
NM_000551.3(VHL):c.3G>A (p.Met1Ile) rs578091032
NM_000551.3(VHL):c.3G>C (p.Met1Ile) rs578091032
NM_000551.3(VHL):c.3G>T (p.Met1Ile) rs578091032
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.40G>C (p.Gly14Arg) rs1060503559
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.41G>A (p.Gly14Asp) rs1575921044
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>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.43G>A (p.Ala15Thr) rs1060503568
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.45G>A (p.Ala15=) rs563813895
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.464-10G>A rs552930903
NM_000551.3(VHL):c.464-2A>G rs5030816
NM_000551.3(VHL):c.464-3C>T rs904414377
NM_000551.3(VHL):c.464-?_*3705del
NM_000551.3(VHL):c.46G>C (p.Glu16Gln) rs1060503556
NM_000551.3(VHL):c.46G>T (p.Glu16Ter) rs1060503556
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.47A>C (p.Glu16Ala) rs864622379
NM_000551.3(VHL):c.482G>A (p.Arg161Gln) rs730882035
NM_000551.3(VHL):c.483_500dup (p.Cys162_Arg167dup) rs1553620312
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>G (p.Leu163Arg) rs28940297
NM_000551.3(VHL):c.48G>A (p.Glu16=) rs1057522140
NM_000551.3(VHL):c.48G>C (p.Glu16Asp) rs1057522140
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>C (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.49G>T (p.Glu17Ter) rs1028898216
NM_000551.3(VHL):c.4C>T (p.Pro2Ser) rs1034974221
NM_000551.3(VHL):c.500G>T (p.Arg167Leu) rs5030821
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.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.53C>T (p.Ala18Val) rs1553619302
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.54A>C (p.Ala18=) rs1305687580
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>G (p.Tyr185Ter) rs864622109
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.561T>C (p.Asp187=) rs370769257
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.57C>A (p.Gly19=) rs1453582828
NM_000551.3(VHL):c.57del (p.Val20fs) rs1553619308
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.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.5C>G (p.Pro2Arg) rs111246617
NM_000551.3(VHL):c.5C>T (p.Pro2Leu) rs111246617
NM_000551.3(VHL):c.608A>G (p.Gln203Arg) rs1270568049
NM_000551.3(VHL):c.60C>G (p.Val20=) rs1553619311
NM_000551.3(VHL):c.612G>A (p.Glu204=) rs747805018
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.62A>C (p.Glu21Ala) rs1060503548
NM_000551.3(VHL):c.62A>T (p.Glu21Val) rs1060503548
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_000551.3(VHL):c.6C>G (p.Pro2=) rs1014417508
NM_000551.3(VHL):c.70G>A (p.Gly24Ser) rs1438223626
NM_000551.3(VHL):c.70G>T (p.Gly24Cys) rs1438223626
NM_000551.3(VHL):c.71G>A (p.Gly24Asp) rs878854129
NM_000551.3(VHL):c.72C>A (p.Gly24=) rs1375079282
NM_000551.3(VHL):c.73C>G (p.Pro25Ala) rs745338799
NM_000551.3(VHL):c.74C>T (p.Pro25Leu) rs35460768
NM_000551.3(VHL):c.75T>C (p.Pro25=) rs1553619317
NM_000551.3(VHL):c.7C>T (p.Arg3Trp) rs878854130
NM_000551.3(VHL):c.82G>A (p.Asp28Asn) rs1553619319
NM_000551.3(VHL):c.85G>C (p.Gly29Arg) rs1277221408
NM_000551.3(VHL):c.86G>C (p.Gly29Ala) rs1553619321
NM_000551.3(VHL):c.86_87delinsTT (p.Gly29Val) rs879254115
NM_000551.3(VHL):c.87C>T (p.Gly29=) rs987301475
NM_000551.3(VHL):c.88G>A (p.Gly30Arg) rs913104799
NM_000551.3(VHL):c.89G>A (p.Gly30Glu) rs1064793290
NM_000551.3(VHL):c.89G>C (p.Gly30Ala) rs1064793290
NM_000551.3(VHL):c.8G>C (p.Arg3Pro) rs1178481595
NM_000551.3(VHL):c.91G>T (p.Glu31Ter) rs1214275235
NM_000551.3(VHL):c.95A>G (p.Glu32Gly) rs786203104
NM_000551.3(VHL):c.98C>A (p.Ser33Ter) rs1476994915
NM_000551.3(VHL):c.99G>C (p.Ser33=) rs912159589
NM_000551.4(VHL):c.106G>A (p.Glu36Lys)
NM_000551.4(VHL):c.106G>T (p.Glu36Ter)
NM_000551.4(VHL):c.112_156del (p.Ser38_Glu52del)
NM_000551.4(VHL):c.115G>A (p.Gly39Ser) rs768650092
NM_000551.4(VHL):c.118C>G (p.Pro40Ala)
NM_000551.4(VHL):c.120G>A (p.Pro40=) rs1189123803
NM_000551.4(VHL):c.122A>T (p.Glu41Val)
NM_000551.4(VHL):c.124G>A (p.Glu42Lys)
NM_000551.4(VHL):c.124G>C (p.Glu42Gln)
NM_000551.4(VHL):c.125A>G (p.Glu42Gly)
NM_000551.4(VHL):c.127T>C (p.Ser43Pro)
NM_000551.4(VHL):c.130G>C (p.Gly44Arg)
NM_000551.4(VHL):c.131G>A (p.Gly44Asp)
NM_000551.4(VHL):c.132C>T (p.Gly44=)
NM_000551.4(VHL):c.138_160del (p.Glu46fs)
NM_000551.4(VHL):c.139G>T (p.Glu47Ter)
NM_000551.4(VHL):c.141A>G (p.Glu47=) rs1353920298
NM_000551.4(VHL):c.145G>C (p.Gly49Arg)
NM_000551.4(VHL):c.146G>T (p.Gly49Val)
NM_000551.4(VHL):c.149C>G (p.Ala50Gly)
NM_000551.4(VHL):c.150C>G (p.Ala50=) rs61751580
NM_000551.4(VHL):c.151G>C (p.Glu51Gln)
NM_000551.4(VHL):c.154G>T (p.Glu52Ter) rs373068386
NM_000551.4(VHL):c.160A>T (p.Met54Leu)
NM_000551.4(VHL):c.16G>T (p.Glu6Ter)
NM_000551.4(VHL):c.171G>C (p.Gly57=)
NM_000551.4(VHL):c.176C>A (p.Pro59Gln)
NM_000551.4(VHL):c.177G>A (p.Pro59=)
NM_000551.4(VHL):c.178C>T (p.Arg60Trp)
NM_000551.4(VHL):c.179G>C (p.Arg60Pro)
NM_000551.4(VHL):c.17A>C (p.Glu6Ala)
NM_000551.4(VHL):c.184G>A (p.Val62Met) rs747861291
NM_000551.4(VHL):c.184G>C (p.Val62Leu)
NM_000551.4(VHL):c.185T>A (p.Val62Glu)
NM_000551.4(VHL):c.186_187delinsTT (p.Val62_Leu63=)
NM_000551.4(VHL):c.190C>A (p.Arg64Ser)
NM_000551.4(VHL):c.194C>G (p.Ser65Trp) rs5030826
NM_000551.4(VHL):c.205C>T (p.Arg69Cys)
NM_000551.4(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.4(VHL):c.208G>C (p.Glu70Gln)
NM_000551.4(VHL):c.20A>G (p.Asn7Ser)
NM_000551.4(VHL):c.20A>T (p.Asn7Ile)
NM_000551.4(VHL):c.211C>T (p.Pro71Ser)
NM_000551.4(VHL):c.215C>T (p.Ser72Phe)
NM_000551.4(VHL):c.218A>T (p.Gln73Leu)
NM_000551.4(VHL):c.21C>G (p.Asn7Lys)
NM_000551.4(VHL):c.222C>G (p.Val74=) rs759737367
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del) rs5030648
NM_000551.4(VHL):c.228C>G (p.Phe76Leu)
NM_000551.4(VHL):c.22_27dup (p.Trp8_Asp9dup)
NM_000551.4(VHL):c.230G>C (p.Cys77Ser)
NM_000551.4(VHL):c.237C>G (p.Arg79=) rs760899424
NM_000551.4(VHL):c.238_246del (p.Ser80_Arg82del)
NM_000551.4(VHL):c.239G>A (p.Ser80Asn)
NM_000551.4(VHL):c.23G>T (p.Trp8Leu)
NM_000551.4(VHL):c.241C>G (p.Pro81Ala)
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_000551.4(VHL):c.241_244dup (p.Arg82fs)
NM_000551.4(VHL):c.244C>T (p.Arg82Cys)
NM_000551.4(VHL):c.244_259dup (p.Val87fs)
NM_000551.4(VHL):c.245G>A (p.Arg82His) rs794726890
NM_000551.4(VHL):c.247G>C (p.Val83Leu)
NM_000551.4(VHL):c.252G>C (p.Val84=) rs1436342215
NM_000551.4(VHL):c.253C>G (p.Leu85Val)
NM_000551.4(VHL):c.256C>T (p.Pro86Ser) rs398123481
NM_000551.4(VHL):c.258C>T (p.Pro86=) rs781063331
NM_000551.4(VHL):c.261A>G (p.Val87=) rs1386184754
NM_000551.4(VHL):c.264G>A (p.Trp88Ter)
NM_000551.4(VHL):c.264_267dup (p.Asn90fs)
NM_000551.4(VHL):c.267C>A (p.Leu89=) rs755794553
NM_000551.4(VHL):c.276C>G (p.Asp92Glu)
NM_000551.4(VHL):c.279C>T (p.Gly93=)
NM_000551.4(VHL):c.27C>G (p.Asp9Glu)
NM_000551.4(VHL):c.288G>T (p.Gln96His)
NM_000551.4(VHL):c.28G>C (p.Glu10Gln)
NM_000551.4(VHL):c.294C>T (p.Tyr98=) rs1559426115
NM_000551.4(VHL):c.295C>A (p.Pro99Thr)
NM_000551.4(VHL):c.295C>G (p.Pro99Ala)
NM_000551.4(VHL):c.298del (p.Thr100fs)
NM_000551.4(VHL):c.29A>G (p.Glu10Gly)
NM_000551.4(VHL):c.303G>A (p.Leu101=)
NM_000551.4(VHL):c.304C>T (p.Pro102Ser)
NM_000551.4(VHL):c.306G>T (p.Pro102=)
NM_000551.4(VHL):c.309T>C (p.Pro103=)
NM_000551.4(VHL):c.314C>T (p.Thr105Met)
NM_000551.4(VHL):c.319CGC[1] (p.Arg108del) rs869191373
NM_000551.4(VHL):c.327C>A (p.Ile109=)
NM_000551.4(VHL):c.327C>G (p.Ile109Met)
NM_000551.4(VHL):c.329A>G (p.His110Arg)
NM_000551.4(VHL):c.330C>G (p.His110Gln)
NM_000551.4(VHL):c.337C>G (p.Arg113Gly)
NM_000551.4(VHL):c.340+10C>A rs777622214
NM_000551.4(VHL):c.340+10C>T rs777622214
NM_000551.4(VHL):c.340+4C>T
NM_000551.4(VHL):c.340+574A>T
NM_000551.4(VHL):c.340+577C>G
NM_000551.4(VHL):c.340+578C>T
NM_000551.4(VHL):c.340+581A>C
NM_000551.4(VHL):c.340+581A>G
NM_000551.4(VHL):c.340+588C>A
NM_000551.4(VHL):c.340+589A>C
NM_000551.4(VHL):c.340+590G>C
NM_000551.4(VHL):c.340+592G>A
NM_000551.4(VHL):c.340+594G>T
NM_000551.4(VHL):c.340+595C>A
NM_000551.4(VHL):c.340+595C>T
NM_000551.4(VHL):c.340+5G>C rs61758376
NM_000551.4(VHL):c.340+601C>G
NM_000551.4(VHL):c.340+604C>T
NM_000551.4(VHL):c.340+605G>C
NM_000551.4(VHL):c.340+605G>T
NM_000551.4(VHL):c.340+608del
NM_000551.4(VHL):c.340+614G>T
NM_000551.4(VHL):c.340+615C>A
NM_000551.4(VHL):c.340+616C>T
NM_000551.4(VHL):c.340+617C>T
NM_000551.4(VHL):c.340+618T>G
NM_000551.4(VHL):c.340+621T>C
NM_000551.4(VHL):c.340+626A>G
NM_000551.4(VHL):c.340+627A>C
NM_000551.4(VHL):c.340+630_340+631del
NM_000551.4(VHL):c.340+631A>G
NM_000551.4(VHL):c.340+631A>T
NM_000551.4(VHL):c.340+633T>C
NM_000551.4(VHL):c.340+634C>T
NM_000551.4(VHL):c.340+637C>A
NM_000551.4(VHL):c.340+638C>G
NM_000551.4(VHL):c.340+641G>C
NM_000551.4(VHL):c.340+643G>A
NM_000551.4(VHL):c.340+646A>G
NM_000551.4(VHL):c.340+646A>T
NM_000551.4(VHL):c.340+647C>G
NM_000551.4(VHL):c.340+651C>T
NM_000551.4(VHL):c.340+652A>C
NM_000551.4(VHL):c.340+653_340+654del
NM_000551.4(VHL):c.340+665G>C
NM_000551.4(VHL):c.340+666del
NM_000551.4(VHL):c.340+672G>T
NM_000551.4(VHL):c.340+675A>G
NM_000551.4(VHL):c.340+681A>T
NM_000551.4(VHL):c.340+682T>C
NM_000551.4(VHL):c.340+687G>A
NM_000551.4(VHL):c.340+688C>T
NM_000551.4(VHL):c.340+691C>G
NM_000551.4(VHL):c.340+692G>A
NM_000551.4(VHL):c.340+692G>C
NM_000551.4(VHL):c.340+694A>C
NM_000551.4(VHL):c.340+694A>G
NM_000551.4(VHL):c.340+694_340+711dup rs1575923363
NM_000551.4(VHL):c.340+695_340+702dup
NM_000551.4(VHL):c.340+696G>T
NM_000551.4(VHL):c.340+700C>G
NM_000551.4(VHL):c.340+701G>A
NM_000551.4(VHL):c.340+701G>C
NM_000551.4(VHL):c.340+701G>T
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>A
NM_000551.4(VHL):c.340+706T>G
NM_000551.4(VHL):c.340+707G>A
NM_000551.4(VHL):c.340+709G>T
NM_000551.4(VHL):c.340+710T>G
NM_000551.4(VHL):c.340+712G>T
NM_000551.4(VHL):c.340+713C>A
NM_000551.4(VHL):c.340+713C>T
NM_000551.4(VHL):c.340+714G>A
NM_000551.4(VHL):c.340+714G>C
NM_000551.4(VHL):c.340+714G>T
NM_000551.4(VHL):c.340+716G>A
NM_000551.4(VHL):c.340+720A>G
NM_000551.4(VHL):c.340+722T>C
NM_000551.4(VHL):c.340+724G>C
NM_000551.4(VHL):c.340+726C>T
NM_000551.4(VHL):c.340+727T>G
NM_000551.4(VHL):c.340+728T>C
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+746T>C
NM_000551.4(VHL):c.340+750G>C
NM_000551.4(VHL):c.340+751G>T
NM_000551.4(VHL):c.340+752G>A
NM_000551.4(VHL):c.340+753G>C
NM_000551.4(VHL):c.340+753dup
NM_000551.4(VHL):c.340+754T>C
NM_000551.4(VHL):c.340+755T>A
NM_000551.4(VHL):c.340+756G>C
NM_000551.4(VHL):c.340+760T>C
NM_000551.4(VHL):c.340+762G>A
NM_000551.4(VHL):c.340+763T>C
NM_000551.4(VHL):c.340+770T>A
NM_000551.4(VHL):c.340+770T>C rs1346312258
NM_000551.4(VHL):c.340+779G>C
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+795A>G
NM_000551.4(VHL):c.340+797G>T
NM_000551.4(VHL):c.340+799AG[2]
NM_000551.4(VHL):c.340+800G>A
NM_000551.4(VHL):c.340+804G>C
NM_000551.4(VHL):c.340+805C>G
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>A
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+824G>A
NM_000551.4(VHL):c.340+825C>A
NM_000551.4(VHL):c.340+825C>G
NM_000551.4(VHL):c.340+825C>T
NM_000551.4(VHL):c.340+828A>G
NM_000551.4(VHL):c.340+828A>T
NM_000551.4(VHL):c.340+829C>T
NM_000551.4(VHL):c.340+830C>T
NM_000551.4(VHL):c.340+831C>A
NM_000551.4(VHL):c.340+831C>T
NM_000551.4(VHL):c.340+832T>C
NM_000551.4(VHL):c.341-1_342dup
NM_000551.4(VHL):c.341-8C>T
NM_000551.4(VHL):c.349T>G (p.Trp117Gly)
NM_000551.4(VHL):c.34_35delinsTT (p.Glu12Leu)
NM_000551.4(VHL):c.354C>T (p.Leu118=)
NM_000551.4(VHL):c.357C>T (p.Phe119=)
NM_000551.4(VHL):c.35A>G (p.Glu12Gly)
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.365C>T (p.Ala122Val)
NM_000551.4(VHL):c.366A>C (p.Ala122=) rs1474241640
NM_000551.4(VHL):c.374_375del (p.His125fs) rs869025644
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.38T>C (p.Val13Ala)
NM_000551.4(VHL):c.38_52del (p.Val13_Glu17del)
NM_000551.4(VHL):c.39A>G (p.Val13=) rs996469746
NM_000551.4(VHL):c.39A>T (p.Val13=) rs996469746
NM_000551.4(VHL):c.400G>T (p.Glu134Ter)
NM_000551.4(VHL):c.40G>A (p.Gly14Ser)
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.415T>C (p.Ser139Pro)
NM_000551.4(VHL):c.419_420del (p.Leu140fs) rs869025649
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.42C>T (p.Gly14=)
NM_000551.4(VHL):c.431G>A (p.Gly144Glu)
NM_000551.4(VHL):c.432A>G (p.Gly144=) rs1575928044
NM_000551.4(VHL):c.433C>A (p.Gln145Lys)
NM_000551.4(VHL):c.433C>G (p.Gln145Glu)
NM_000551.4(VHL):c.439A>G (p.Ile147Val) rs1057517560
NM_000551.4(VHL):c.446C>T (p.Ala149Val)
NM_000551.4(VHL):c.447C>T (p.Ala149=)
NM_000551.4(VHL):c.448_449del (p.Asn150fs)
NM_000551.4(VHL):c.449del rs794727253
NM_000551.4(VHL):c.451A>G (p.Ile151Val)
NM_000551.4(VHL):c.45G>C (p.Ala15=)
NM_000551.4(VHL):c.463+5T>G
NM_000551.4(VHL):c.463+8C>T rs5030834
NM_000551.4(VHL):c.463G>C (p.Val155Leu)
NM_000551.4(VHL):c.464-1G>A rs5030817
NM_000551.4(VHL):c.464-9C>T
NM_000551.4(VHL):c.467A>G (p.Tyr156Cys) rs397516441
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.501_502insTTGTCCGT rs398123483
NM_000551.4(VHL):c.504_519del (p.Ser168fs)
NM_000551.4(VHL):c.505dup (p.Leu169fs)
NM_000551.4(VHL):c.512A>G (p.Lys171Arg)
NM_000551.4(VHL):c.51G>T (p.Glu17Asp)
NM_000551.4(VHL):c.524A>T (p.Tyr175Phe) rs193922613
NM_000551.4(VHL):c.525C>T (p.Tyr175=) rs5030835
NM_000551.4(VHL):c.528G>T (p.Arg176Ser)
NM_000551.4(VHL):c.52del (p.Ala18fs)
NM_000551.4(VHL):c.531A>G (p.Arg177=) rs766088261
NM_000551.4(VHL):c.531A>T (p.Arg177Ser)
NM_000551.4(VHL):c.545G>C (p.Arg182Thr)
NM_000551.4(VHL):c.548C>T (p.Ser183Leu) rs5030823
NM_000551.4(VHL):c.550C>G (p.Leu184Val)
NM_000551.4(VHL):c.556G>C (p.Glu186Gln)
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824
NM_000551.4(VHL):c.563T>G (p.Leu188Arg)
NM_000551.4(VHL):c.575C>G (p.Pro192Arg) rs902694906
NM_000551.4(VHL):c.576A>C (p.Pro192=) rs1372952726
NM_000551.4(VHL):c.588A>G (p.Lys196=)
NM_000551.4(VHL):c.592C>G (p.Leu198Val)
NM_000551.4(VHL):c.593T>A (p.Leu198Gln)
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.59T>C (p.Val20Ala)
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.619G>A (p.Ala207Thr)
NM_000551.4(VHL):c.622C>T (p.His208Tyr)
NM_000551.4(VHL):c.623A>G (p.His208Arg)
NM_000551.4(VHL):c.627A>T (p.Gln209His)
NM_000551.4(VHL):c.634G>A (p.Gly212Arg)
NM_000551.4(VHL):c.639_642dup (p.Asp213_Ter214=)
NM_000551.4(VHL):c.64G>A (p.Glu22Lys)
NM_000551.4(VHL):c.69C>T (p.Tyr23=) rs1553619313
NM_000551.4(VHL):c.6C>T (p.Pro2=) rs1014417508
NM_000551.4(VHL):c.7C>G (p.Arg3Gly)
NM_000551.4(VHL):c.88G>C (p.Gly30Arg)
NM_000551.4(VHL):c.88G>T (p.Gly30Trp)
NM_000551.4(VHL):c.93G>C (p.Glu31Asp)
NM_000551.4(VHL):c.93_122dup (p.Ala35_Gly44dup)
NM_000551.4(VHL):c.97T>A (p.Ser33Thr)
NM_000551.4(VHL):c.98C>T (p.Ser33Leu)
NM_000551.4(VHL):c.99_113dup (p.Ala35_Gly39dup)
NM_000551.4(VHL):c.9G>T (p.Arg3=)
NM_001354723.2(VHL):c.*112A>C rs587778744
NM_001354723.2(VHL):c.*122_*124dup rs1559429840
NM_001354723.2(VHL):c.*125C>G rs28940301
NM_001354723.2(VHL):c.*133T>C rs1060503558
NM_001354723.2(VHL):c.*140A>G rs281860296
NM_001354723.2(VHL):c.*159C>T rs779514074
NM_001354723.2(VHL):c.*164G>C rs758853661
NM_001354723.2(VHL):c.*164G>T rs758853661
NM_001354723.2(VHL):c.*167C>G rs199926195
NM_001354723.2(VHL):c.*171_*172delinsAG rs1060503567
NM_001354723.2(VHL):c.*31del rs730882020
NM_001354723.2(VHL):c.*42T>C rs28940297
NM_001354723.2(VHL):c.*46G>T rs1352275281
NM_001354723.2(VHL):c.*67G>T rs1365445365
NM_001354723.2(VHL):c.*74A>T rs1060503566
NM_001354723.2(VHL):c.*94_*97del rs869025664
NM_198156.3(VHL):c.123_137del (p.38_42SGPEE[1]) rs863224839
NM_198156.3(VHL):c.269A>G (p.Asn90Ser) rs143985153
NM_198156.3(VHL):c.341-3170del rs869025653
NM_198156.3(VHL):c.341-3179_341-3178del rs869025652
NM_198156.3(VHL):c.341-3184G>A rs869025650
NM_198156.3(VHL):c.341-3192dup rs1553619976
NM_198156.3(VHL):c.341-3203G>C rs1553619969
NM_198156.3(VHL):c.341-3216C>T rs1060503565
NM_198156.3(VHL):c.341-3229C>T rs369018004
NM_198156.3(VHL):c.341-3237del rs1553619952
NM_198156.3(VHL):c.341-3238G>T rs104893831
NM_198156.3(VHL):c.83_100dup (p.Asp28_Ser33dup) rs1057517592

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