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.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.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.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.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.3411_342dup


NM_000551.4(VHL):c.3418C>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.4641G>A

rs5030817

NM_000551.4(VHL):c.4649C>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.3413170del

rs869025653

NM_198156.3(VHL):c.3413179_3413178del

rs869025652

NM_198156.3(VHL):c.3413184G>A

rs869025650

NM_198156.3(VHL):c.3413192dup

rs1553619976

NM_198156.3(VHL):c.3413203G>C

rs1553619969

NM_198156.3(VHL):c.3413216C>T

rs1060503565

NM_198156.3(VHL):c.3413229C>T

rs369018004

NM_198156.3(VHL):c.3413237del

rs1553619952

NM_198156.3(VHL):c.3413238G>T

rs104893831

NM_198156.3(VHL):c.83_100dup (p.Asp28_Ser33dup)

rs1057517592
