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


NM_000551.3(VHL):c.*7C>G

rs778005138

NM_000551.3(VHL):c.34125_370dup

rs1553619923

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

rs372340900

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

rs191201783

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

rs1272767361

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

rs879254230

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

rs1064793291

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

rs375401722

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.382C>T (p.Leu128Phe)

rs1553619956

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

rs369018004

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

rs878854125

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.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.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.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.462A>G (p.Pro154=)

rs1060503562

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

rs879253989

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

rs904414377

NM_000551.3(VHL):c.483_500dup (p.Cys162_Arg167dup)

rs1553620312

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.493G>T (p.Val165Phe)

rs1575932103

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

rs1575932110

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.526A>G (p.Arg176Gly)

rs1575932259

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

rs755146587

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.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.553T>C (p.Tyr185His)

rs768390987

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

rs561874453

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

rs367545984

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.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.608A>G (p.Gln203Arg)

rs1270568049

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_000551.4(VHL):c.340+574A>T


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


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+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+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+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.362A>T (p.Asp121Val)


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


NM_000551.4(VHL):c.365C>T (p.Ala122Val)


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

rs104893831

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


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

rs780178275

NM_000551.4(VHL):c.415T>C (p.Ser139Pro)


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


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


NM_000551.4(VHL):c.431G>A (p.Gly144Glu)


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.451A>G (p.Ile151Val)


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


NM_000551.4(VHL):c.463G>C (p.Val155Leu)


NM_000551.4(VHL):c.4649C>T


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


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


NM_000551.4(VHL):c.512A>G (p.Lys171Arg)


NM_000551.4(VHL):c.524A>T (p.Tyr175Phe)

rs193922613

NM_000551.4(VHL):c.528G>T (p.Arg176Ser)


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.563T>G (p.Leu188Arg)


NM_000551.4(VHL):c.575C>G (p.Pro192Arg)

rs902694906

NM_000551.4(VHL):c.592C>G (p.Leu198Val)


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.599G>T (p.Arg200Leu)


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_001354723.2(VHL):c.*112A>C

rs587778744

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

rs1559429840

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.*67G>T

rs1365445365

NM_001354723.2(VHL):c.*74A>T

rs1060503566

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

rs869025650

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

rs1060503565

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

rs104893831
