NM_000551.4(VHL):c.340+648T>C
|
rs73024533
|
0.01009
|
NM_000551.4(VHL):c.340+578C>T
|
rs139622356
|
0.00064
|
NM_000551.4(VHL):c.463+8C>T
|
rs5030834
|
0.00051
|
NM_000551.4(VHL):c.340+679T>G
|
rs866935879
|
0.00037
|
NM_000551.4(VHL):c.340+686_340+687del
|
rs944477902
|
0.00037
|
NM_000551.4(VHL):c.341-6C>T
|
rs191201783
|
0.00019
|
NM_000551.4(VHL):c.629G>A (p.Arg210Gln)
|
rs138780791
|
0.00013
|
NM_000551.4(VHL):c.*70C>T
|
rs552290225
|
0.00011
|
NM_000551.4(VHL):c.340+727T>G
|
rs996243576
|
0.00011
|
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)
|
rs28940298
|
0.00010
|
NM_000551.4(VHL):c.340+742G>T
|
rs186099278
|
0.00009
|
NM_000551.4(VHL):c.340+790G>A
|
rs527534541
|
0.00009
|
NM_000551.4(VHL):c.340+691C>G
|
rs1041395081
|
0.00008
|
NM_000551.4(VHL):c.340+616C>T
|
rs544465283
|
0.00006
|
NM_000551.4(VHL):c.340+837A>G
|
rs190906863
|
0.00006
|
NM_000551.4(VHL):c.464-10G>A
|
rs552930903
|
0.00006
|
NM_000551.4(VHL):c.531A>G (p.Arg177=)
|
rs766088261
|
0.00006
|
NM_000551.4(VHL):c.340+621T>C
|
rs562162481
|
0.00005
|
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.340+705G>A
|
rs1411141967
|
0.00003
|
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.340+604C>T
|
rs192085256
|
0.00002
|
NM_000551.4(VHL):c.340+634C>T
|
rs1461514639
|
0.00002
|
NM_000551.4(VHL):c.340+724G>C
|
rs900590059
|
0.00002
|
NM_000551.4(VHL):c.340+789C>G
|
rs1241756327
|
0.00002
|
NM_000551.4(VHL):c.340+800G>A
|
rs999509680
|
0.00002
|
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.463+15C>G
|
rs761828544
|
0.00002
|
NM_000551.4(VHL):c.526A>G (p.Arg176Gly)
|
rs1575932259
|
0.00002
|
NM_000551.4(VHL):c.590A>C (p.Asp197Ala)
|
rs752940316
|
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.340+581A>G
|
rs968298760
|
0.00001
|
NM_000551.4(VHL):c.340+594G>T
|
rs1235225768
|
0.00001
|
NM_000551.4(VHL):c.340+595C>T
|
rs1335472800
|
0.00001
|
NM_000551.4(VHL):c.340+601C>G
|
rs978373924
|
0.00001
|
NM_000551.4(VHL):c.340+615C>T
|
rs961184868
|
0.00001
|
NM_000551.4(VHL):c.340+618T>G
|
rs1379155896
|
0.00001
|
NM_000551.4(VHL):c.340+631A>G
|
rs947805761
|
0.00001
|
NM_000551.4(VHL):c.340+638C>G
|
rs973712723
|
0.00001
|
NM_000551.4(VHL):c.340+675A>G
|
rs1194123576
|
0.00001
|
NM_000551.4(VHL):c.340+685T>A
|
rs1696160690
|
0.00001
|
NM_000551.4(VHL):c.340+700C>G
|
rs778132298
|
0.00001
|
NM_000551.4(VHL):c.340+707G>A
|
rs924279704
|
0.00001
|
NM_000551.4(VHL):c.340+713C>T
|
rs1432659600
|
0.00001
|
NM_000551.4(VHL):c.340+738C>T
|
rs1274332503
|
0.00001
|
NM_000551.4(VHL):c.340+752G>A
|
rs1696163031
|
0.00001
|
NM_000551.4(VHL):c.340+770T>C
|
rs1346312258
|
0.00001
|
NM_000551.4(VHL):c.340+791G>A
|
rs903894625
|
0.00001
|
NM_000551.4(VHL):c.340+805C>G
|
rs1696164445
|
0.00001
|
NM_000551.4(VHL):c.340+809A>G
|
rs1377166151
|
0.00001
|
NM_000551.4(VHL):c.340+812G>C
|
rs1696164675
|
0.00001
|
NM_000551.4(VHL):c.340+816A>C
|
rs1031288121
|
0.00001
|
NM_000551.4(VHL):c.340+825C>T
|
rs1156980093
|
0.00001
|
NM_000551.4(VHL):c.340+828A>G
|
rs570619659
|
0.00001
|
NM_000551.4(VHL):c.340+829C>T
|
rs907291243
|
0.00001
|
NM_000551.4(VHL):c.341-10G>C
|
rs140064807
|
0.00001
|
NM_000551.4(VHL):c.341-25_370dup
|
rs1553619923
|
0.00001
|
NM_000551.4(VHL):c.341-8C>G
|
rs1272767361
|
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.413C>T (p.Pro138Leu)
|
rs780178275
|
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.463+12T>C
|
rs1382435156
|
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.471T>C (p.Thr157=)
|
rs1252473811
|
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.528G>T (p.Arg176Ser)
|
rs762748790
|
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.553T>A (p.Tyr185Asn)
|
rs768390987
|
0.00001
|
NM_000551.4(VHL):c.561T>C (p.Asp187=)
|
rs370769257
|
0.00001
|
NM_000551.4(VHL):c.565G>A (p.Glu189Lys)
|
rs762790375
|
0.00001
|
NM_000551.4(VHL):c.578A>G (p.Asn193Ser)
|
rs879254225
|
0.00001
|
NM_000551.4(VHL):c.582G>A (p.Val194=)
|
rs1696363804
|
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.606A>G (p.Thr202=)
|
rs1575932637
|
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_000551.4(VHL):c.637G>C (p.Asp213His)
|
rs1696367993
|
0.00001
|
NC_000003.11:g.(?_10183526)_(10191655_?)dup
|
|
|
NC_000003.11:g.(?_10188188)_(10188330_?)dup
|
|
|
NC_000003.11:g.(?_10191461)_(10191659_?)dup
|
|
|
NC_000003.11:g.(?_10191471)_(10195354_?)dup
|
|
|
NC_000003.12:g.(?_10141635)_(10153670_?)del
|
|
|
NC_000003.12:g.(?_10141838)_(10149975_?)del
|
|
|
NC_000003.12:g.(?_10146504)_(10146646_?)del
|
|
|
NC_000003.12:g.(?_10146504)_(10149975_?)del
|
|
|
NC_000003.12:g.(?_10146508)_(10149971_?)del
|
|
|
NC_000003.12:g.(?_10146514)_(10146636_?)del
|
|
|
NC_000003.12:g.(?_10149777)_(10149975_?)del
|
|
|
NM_000551.3(VHL):c.464-?_*3705del
|
|
|
NM_000551.4(VHL):c.*7C>G
|
rs778005138
|
|
NM_000551.4(VHL):c.340+574A>T
|
rs982745672
|
|
NM_000551.4(VHL):c.340+575G>T
|
rs2125125827
|
|
NM_000551.4(VHL):c.340+576T>C
|
|
|
NM_000551.4(VHL):c.340+576T>G
|
|
|
NM_000551.4(VHL):c.340+577C>G
|
rs1696157821
|
|
NM_000551.4(VHL):c.340+577C>T
|
|
|
NM_000551.4(VHL):c.340+581A>C
|
rs968298760
|
|
NM_000551.4(VHL):c.340+583G>C
|
rs2125125847
|
|
NM_000551.4(VHL):c.340+584A>T
|
|
|
NM_000551.4(VHL):c.340+587C>G
|
rs1488349413
|
|
NM_000551.4(VHL):c.340+588C>A
|
rs1696158160
|
|
NM_000551.4(VHL):c.340+589A>C
|
rs2125125850
|
|
NM_000551.4(VHL):c.340+590G>C
|
rs1696158201
|
|
NM_000551.4(VHL):c.340+591T>A
|
|
|
NM_000551.4(VHL):c.340+591T>C
|
|
|
NM_000551.4(VHL):c.340+592G>A
|
rs1696158247
|
|
NM_000551.4(VHL):c.340+595C>A
|
rs1335472800
|
|
NM_000551.4(VHL):c.340+598G>A
|
rs2125125857
|
|
NM_000551.4(VHL):c.340+599T>A
|
|
|
NM_000551.4(VHL):c.340+601C>T
|
|
|
NM_000551.4(VHL):c.340+603G>C
|
|
|
NM_000551.4(VHL):c.340+605G>A
|
rs1696158642
|
|
NM_000551.4(VHL):c.340+605G>C
|
rs1696158642
|
|
NM_000551.4(VHL):c.340+605G>T
|
rs1696158642
|
|
NM_000551.4(VHL):c.340+606T>A
|
|
|
NM_000551.4(VHL):c.340+607A>G
|
rs2125125866
|
|
NM_000551.4(VHL):c.340+608del
|
rs1696158689
|
|
NM_000551.4(VHL):c.340+610C>T
|
|
|
NM_000551.4(VHL):c.340+613T>C
|
|
|
NM_000551.4(VHL):c.340+613dup
|
rs2125125871
|
|
NM_000551.4(VHL):c.340+614G>T
|
rs2125125873
|
|
NM_000551.4(VHL):c.340+614del
|
rs2125125876
|
|
NM_000551.4(VHL):c.340+615C>A
|
rs961184868
|
|
NM_000551.4(VHL):c.340+617C>G
|
rs1575923261
|
|
NM_000551.4(VHL):c.340+617C>T
|
rs1575923261
|
|
NM_000551.4(VHL):c.340+619C>T
|
rs1319443909
|
|
NM_000551.4(VHL):c.340+622G>A
|
rs2125125888
|
|
NM_000551.4(VHL):c.340+623G>A
|
rs2125125891
|
|
NM_000551.4(VHL):c.340+623G>C
|
|
|
NM_000551.4(VHL):c.340+625G>A
|
rs2125125893
|
|
NM_000551.4(VHL):c.340+626A>G
|
rs1696159137
|
|
NM_000551.4(VHL):c.340+627A>C
|
rs1696159189
|
|
NM_000551.4(VHL):c.340+627A>G
|
|
|
NM_000551.4(VHL):c.340+628C>T
|
|
|
NM_000551.4(VHL):c.340+629A>G
|
|
|
NM_000551.4(VHL):c.340+630C>T
|
rs2125125896
|
|
NM_000551.4(VHL):c.340+630_340+631del
|
rs1696159237
|
|
NM_000551.4(VHL):c.340+631A>T
|
rs947805761
|
|
NM_000551.4(VHL):c.340+633T>C
|
rs2125125904
|
|
NM_000551.4(VHL):c.340+633del
|
rs2125125902
|
|
NM_000551.4(VHL):c.340+634C>A
|
rs1461514639
|
|
NM_000551.4(VHL):c.340+635C>T
|
rs2125125908
|
|
NM_000551.4(VHL):c.340+637C>A
|
rs1696159418
|
|
NM_000551.4(VHL):c.340+637C>T
|
|
|
NM_000551.4(VHL):c.340+638C>T
|
rs973712723
|
|
NM_000551.4(VHL):c.340+641G>C
|
rs1422221693
|
|
NM_000551.4(VHL):c.340+641_340+642insCTCC
|
|
|
NM_000551.4(VHL):c.340+643G>A
|
rs1165627970
|
|
NM_000551.4(VHL):c.340+643G>T
|
rs1165627970
|
|
NM_000551.4(VHL):c.340+646A>G
|
rs765323685
|
|
NM_000551.4(VHL):c.340+646A>T
|
rs765323685
|
|
NM_000551.4(VHL):c.340+647C>G
|
rs929633840
|
|
NM_000551.4(VHL):c.340+649G>C
|
rs1696159926
|
|
NM_000551.4(VHL):c.340+650A>C
|
|
|
NM_000551.4(VHL):c.340+650A>T
|
rs2125125925
|
|
NM_000551.4(VHL):c.340+651C>T
|
rs1251375973
|
|
NM_000551.4(VHL):c.340+652A>C
|
rs1696160044
|
|
NM_000551.4(VHL):c.340+653_340+654del
|
rs1420441572
|
|
NM_000551.4(VHL):c.340+654A>G
|
|
|
NM_000551.4(VHL):c.340+655T>C
|
rs2125125937
|
|
NM_000551.4(VHL):c.340+657C>G
|
rs987014948
|
|
NM_000551.4(VHL):c.340+658A>G
|
|
|
NM_000551.4(VHL):c.340+663C>T
|
rs1272443616
|
|
NM_000551.4(VHL):c.340+664A>G
|
|
|
NM_000551.4(VHL):c.340+665G>A
|
rs1696160266
|
|
NM_000551.4(VHL):c.340+665G>C
|
rs1696160266
|
|
NM_000551.4(VHL):c.340+666del
|
rs2125125944
|
|
NM_000551.4(VHL):c.340+666dup
|
|
|
NM_000551.4(VHL):c.340+668A>G
|
rs2125125949
|
|
NM_000551.4(VHL):c.340+668dup
|
rs2125125946
|
|
NM_000551.4(VHL):c.340+669C>T
|
rs2125125953
|
|
NM_000551.4(VHL):c.340+670A>G
|
rs2125125958
|
|
NM_000551.4(VHL):c.340+670A>T
|
|
|
NM_000551.4(VHL):c.340+672G>T
|
rs1696160349
|
|
NM_000551.4(VHL):c.340+673C>G
|
|
|
NM_000551.4(VHL):c.340+674C>T
|
rs1696160438
|
|
NM_000551.4(VHL):c.340+677G>A
|
rs2125125965
|
|
NM_000551.4(VHL):c.340+681A>T
|
rs1696160604
|
|
NM_000551.4(VHL):c.340+682T>C
|
rs1696160646
|
|
NM_000551.4(VHL):c.340+687G>A
|
rs2125125975
|
|
NM_000551.4(VHL):c.340+688C>G
|
|
|
NM_000551.4(VHL):c.340+688C>T
|
rs1696160788
|
|
NM_000551.4(VHL):c.340+689G>T
|
|
|
NM_000551.4(VHL):c.340+689del
|
|
|
NM_000551.4(VHL):c.340+690C>A
|
|
|
NM_000551.4(VHL):c.340+690C>T
|
|
|
NM_000551.4(VHL):c.340+691C>T
|
rs1041395081
|
|
NM_000551.4(VHL):c.340+692G>A
|
rs943884473
|
|
NM_000551.4(VHL):c.340+692G>C
|
rs943884473
|
|
NM_000551.4(VHL):c.340+692G>T
|
rs943884473
|
|
NM_000551.4(VHL):c.340+693G>A
|
rs2125125987
|
|
NM_000551.4(VHL):c.340+693_340+698del
|
rs1369151672
|
|
NM_000551.4(VHL):c.340+693del
|
|
|
NM_000551.4(VHL):c.340+694A>C
|
rs1441240589
|
|
NM_000551.4(VHL):c.340+694A>G
|
rs1441240589
|
|
NM_000551.4(VHL):c.340+694_340+711dup
|
rs1575923363
|
|
NM_000551.4(VHL):c.340+695_340+702dup
|
rs1381868678
|
|
NM_000551.4(VHL):c.340+695del
|
rs2125125992
|
|
NM_000551.4(VHL):c.340+696G>A
|
rs1353527753
|
|
NM_000551.4(VHL):c.340+696G>T
|
rs1353527753
|
|
NM_000551.4(VHL):c.340+700C>A
|
|
|
NM_000551.4(VHL):c.340+700_340+701insCTTCC
|
rs2125125995
|
|
NM_000551.4(VHL):c.340+701G>A
|
rs1039517619
|
|
NM_000551.4(VHL):c.340+701G>C
|
rs1039517619
|
|
NM_000551.4(VHL):c.340+701G>T
|
rs1039517619
|
|
NM_000551.4(VHL):c.340+702_340+705del
|
rs2125125997
|
|
NM_000551.4(VHL):c.340+702del
|
|
|
NM_000551.4(VHL):c.340+703C>T
|
|
|
NM_000551.4(VHL):c.340+704C>A
|
|
|
NM_000551.4(VHL):c.340+704C>G
|
|
|
NM_000551.4(VHL):c.340+704C>T
|
rs1696161517
|
|
NM_000551.4(VHL):c.340+705G>C
|
rs1411141967
|
|
NM_000551.4(VHL):c.340+706T>A
|
rs1696161617
|
|
NM_000551.4(VHL):c.340+706T>G
|
rs1696161617
|
|
NM_000551.4(VHL):c.340+709G>T
|
rs935892552
|
|
NM_000551.4(VHL):c.340+710T>C
|
|
|
NM_000551.4(VHL):c.340+710T>G
|
rs2125126011
|
|
NM_000551.4(VHL):c.340+712G>T
|
rs1696161869
|
|
NM_000551.4(VHL):c.340+713C>A
|
rs1432659600
|
|
NM_000551.4(VHL):c.340+714G>A
|
rs1054796088
|
|
NM_000551.4(VHL):c.340+714G>C
|
rs1054796088
|
|
NM_000551.4(VHL):c.340+714G>T
|
rs1054796088
|
|
NM_000551.4(VHL):c.340+715T>G
|
rs2125126018
|
|
NM_000551.4(VHL):c.340+716G>A
|
rs1696162086
|
|
NM_000551.4(VHL):c.340+716G>C
|
rs1696162086
|
|
NM_000551.4(VHL):c.340+720A>G
|
rs2125126022
|
|
NM_000551.4(VHL):c.340+721A>T
|
|
|
NM_000551.4(VHL):c.340+722T>C
|
rs1696162133
|
|
NM_000551.4(VHL):c.340+725A>G
|
rs2125126029
|
|
NM_000551.4(VHL):c.340+726C>G
|
rs1575923399
|
|
NM_000551.4(VHL):c.340+726C>T
|
rs1575923399
|
|
NM_000551.4(VHL):c.340+728T>C
|
rs1696162498
|
|
NM_000551.4(VHL):c.340+728dup
|
rs1232519357
|
|
NM_000551.4(VHL):c.340+729A>C
|
rs2125126034
|
|
NM_000551.4(VHL):c.340+730C>A
|
rs548008573
|
|
NM_000551.4(VHL):c.340+730C>G
|
rs548008573
|
|
NM_000551.4(VHL):c.340+730C>T
|
rs548008573
|
|
NM_000551.4(VHL):c.340+731C>T
|
|
|
NM_000551.4(VHL):c.340+732T>G
|
rs1696162641
|
|
NM_000551.4(VHL):c.340+733G>A
|
rs2125126040
|
|
NM_000551.4(VHL):c.340+733G>C
|
rs2125126040
|
|
NM_000551.4(VHL):c.340+733G>T
|
rs2125126040
|
|
NM_000551.4(VHL):c.340+735C>G
|
|
|
NM_000551.4(VHL):c.340+735C>T
|
|
|
NM_000551.4(VHL):c.340+737G>C
|
rs1696162735
|
|
NM_000551.4(VHL):c.340+739T>G
|
rs2125126047
|
|
NM_000551.4(VHL):c.340+742G>C
|
rs186099278
|
|
NM_000551.4(VHL):c.340+744G>A
|
|
|
NM_000551.4(VHL):c.340+745A>G
|
|
|
NM_000551.4(VHL):c.340+745A>T
|
|
|
NM_000551.4(VHL):c.340+746T>C
|
rs2125126051
|
|
NM_000551.4(VHL):c.340+746dup
|
rs2125126052
|
|
NM_000551.4(VHL):c.340+747G>A
|
rs2125126053
|
|
NM_000551.4(VHL):c.340+748G>A
|
rs2125126056
|
|
NM_000551.4(VHL):c.340+750G>C
|
rs751861959
|
|
NM_000551.4(VHL):c.340+751G>C
|
|
|
NM_000551.4(VHL):c.340+751G>T
|
rs1696162976
|
|
NM_000551.4(VHL):c.340+753G>A
|
rs2125126065
|
|
NM_000551.4(VHL):c.340+753G>C
|
rs2125126065
|
|
NM_000551.4(VHL):c.340+753dup
|
rs2125126061
|
|
NM_000551.4(VHL):c.340+754T>A
|
|
|
NM_000551.4(VHL):c.340+754T>C
|
rs1696163085
|
|
NM_000551.4(VHL):c.340+755T>A
|
rs1696163129
|
|
NM_000551.4(VHL):c.340+755del
|
|
|
NM_000551.4(VHL):c.340+756G>C
|
rs1696163184
|
|
NM_000551.4(VHL):c.340+756G>T
|
rs1696163184
|
|
NM_000551.4(VHL):c.340+757dup
|
|
|
NM_000551.4(VHL):c.340+758G>A
|
rs2125126071
|
|
NM_000551.4(VHL):c.340+759G>A
|
|
|
NM_000551.4(VHL):c.340+760T>C
|
rs1696163288
|
|
NM_000551.4(VHL):c.340+761T>C
|
|
|
NM_000551.4(VHL):c.340+762G>A
|
rs1696163332
|
|
NM_000551.4(VHL):c.340+763T>C
|
rs1696163399
|
|
NM_000551.4(VHL):c.340+766G>A
|
|
|
NM_000551.4(VHL):c.340+767G>C
|
rs1696163478
|
|
NM_000551.4(VHL):c.340+770T>A
|
rs1346312258
|
|
NM_000551.4(VHL):c.340+771C>T
|
|
|
NM_000551.4(VHL):c.340+777A>G
|
rs2125126081
|
|
NM_000551.4(VHL):c.340+779G>A
|
rs1696163737
|
|
NM_000551.4(VHL):c.340+779G>C
|
rs1696163737
|
|
NM_000551.4(VHL):c.340+781G>A
|
rs2125126088
|
|
NM_000551.4(VHL):c.340+784C>T
|
rs1696163787
|
|
NM_000551.4(VHL):c.340+787C>A
|
rs2125126091
|
|
NM_000551.4(VHL):c.340+787C>T
|
rs2125126091
|
|
NM_000551.4(VHL):c.340+788C>G
|
rs1282958900
|
|
NM_000551.4(VHL):c.340+789C>T
|
rs1241756327
|
|
NM_000551.4(VHL):c.340+789del
|
|
|
NM_000551.4(VHL):c.340+790G>T
|
rs527534541
|
|
NM_000551.4(VHL):c.340+793G>A
|
rs2125126106
|
|
NM_000551.4(VHL):c.340+795A>G
|
rs1696164115
|
|
NM_000551.4(VHL):c.340+795del
|
|
|
NM_000551.4(VHL):c.340+796G>A
|
|
|
NM_000551.4(VHL):c.340+797G>C
|
rs1696164222
|
|
NM_000551.4(VHL):c.340+797G>T
|
rs1696164222
|
|
NM_000551.4(VHL):c.340+798A>C
|
|
|
NM_000551.4(VHL):c.340+799A>C
|
|
|
NM_000551.4(VHL):c.340+799AG[2]
|
rs1312220751
|
|
NM_000551.4(VHL):c.340+802G>C
|
|
|
NM_000551.4(VHL):c.340+803A>G
|
rs2125126112
|
|
NM_000551.4(VHL):c.340+804G>C
|
rs1696164389
|
|
NM_000551.4(VHL):c.340+806A>G
|
|
|
NM_000551.4(VHL):c.340+806A>T
|
rs1696164489
|
|
NM_000551.4(VHL):c.340+808G>A
|
rs1696164529
|
|
NM_000551.4(VHL):c.340+808G>C
|
|
|
NM_000551.4(VHL):c.340+808_340+809dup
|
rs2125126119
|
|
NM_000551.4(VHL):c.340+809A>T
|
rs1377166151
|
|
NM_000551.4(VHL):c.340+811G>A
|
rs1174101376
|
|
NM_000551.4(VHL):c.340+811G>C
|
rs1174101376
|
|
NM_000551.4(VHL):c.340+813A>G
|
|
|
NM_000551.4(VHL):c.340+813A>T
|
rs2125126124
|
|
NM_000551.4(VHL):c.340+814G>A
|
rs1696164726
|
|
NM_000551.4(VHL):c.340+814G>T
|
rs1696164726
|
|
NM_000551.4(VHL):c.340+815T>G
|
|
|
NM_000551.4(VHL):c.340+815dup
|
|
|
NM_000551.4(VHL):c.340+818G>A
|
rs960959316
|
|
NM_000551.4(VHL):c.340+818G>C
|
|
|
NM_000551.4(VHL):c.340+819A>G
|
rs1696164925
|
|
NM_000551.4(VHL):c.340+821C>G
|
rs552399136
|
|
NM_000551.4(VHL):c.340+821C>T
|
|
|
NM_000551.4(VHL):c.340+822T>G
|
rs2125126133
|
|
NM_000551.4(VHL):c.340+824G>A
|
rs1349420435
|
|
NM_000551.4(VHL):c.340+825C>A
|
rs1156980093
|
|
NM_000551.4(VHL):c.340+825C>G
|
rs1156980093
|
|
NM_000551.4(VHL):c.340+825_340+834del
|
rs2125126131
|
|
NM_000551.4(VHL):c.340+826C>T
|
rs2125126135
|
|
NM_000551.4(VHL):c.340+827A>G
|
rs2125126136
|
|
NM_000551.4(VHL):c.340+828A>T
|
rs570619659
|
|
NM_000551.4(VHL):c.340+830C>G
|
rs1696165307
|
|
NM_000551.4(VHL):c.340+830C>T
|
rs1696165307
|
|
NM_000551.4(VHL):c.340+831C>A
|
rs1696165357
|
|
NM_000551.4(VHL):c.340+831C>G
|
rs1696165357
|
|
NM_000551.4(VHL):c.340+831C>T
|
rs1696165357
|
|
NM_000551.4(VHL):c.340+832T>C
|
rs1696165411
|
|
NM_000551.4(VHL):c.340+832T>G
|
rs1696165411
|
|
NM_000551.4(VHL):c.340+833A>G
|
|
|
NM_000551.4(VHL):c.340+833A>T
|
rs2125126148
|
|
NM_000551.4(VHL):c.340+834G>C
|
|
|
NM_000551.4(VHL):c.340+835G>A
|
|
|
NM_000551.4(VHL):c.340+837A>T
|
rs190906863
|
|
NM_000551.4(VHL):c.341-11T>A
|
rs2125128187
|
|
NM_000551.4(VHL):c.341-11T>G
|
rs2125128187
|
|
NM_000551.4(VHL):c.341-12T>C
|
|
|
NM_000551.4(VHL):c.341-14G>A
|
rs1696259908
|
|
NM_000551.4(VHL):c.341-15T>C
|
rs2125128176
|
|
NM_000551.4(VHL):c.341-18C>T
|
|
|
NM_000551.4(VHL):c.341-1_342dup
|
rs1696260542
|
|
NM_000551.4(VHL):c.341-20A>G
|
|
|
NM_000551.4(VHL):c.341-2A>G
|
rs869025637
|
|
NM_000551.4(VHL):c.341-2A>T
|
|
|
NM_000551.4(VHL):c.341-4A>T
|
rs1559428033
|
|
NM_000551.4(VHL):c.341-5G>A
|
rs372340900
|
|
NM_000551.4(VHL):c.341-5G>C
|
|
|
NM_000551.4(VHL):c.341-5G>T
|
rs372340900
|
|
NM_000551.4(VHL):c.341-5_341-4delinsTT
|
|
|
NM_000551.4(VHL):c.341-5del
|
rs2125128198
|
|
NM_000551.4(VHL):c.341-6C>A
|
|
|
NM_000551.4(VHL):c.341-6C>G
|
rs191201783
|
|
NM_000551.4(VHL):c.341-7C>T
|
rs1308495590
|
|
NM_000551.4(VHL):c.341-8C>T
|
rs1272767361
|
|
NM_000551.4(VHL):c.341G>T (p.Gly114Val)
|
|
|
NM_000551.4(VHL):c.343C>A (p.His115Asn)
|
|
|
NM_000551.4(VHL):c.344A>G (p.His115Arg)
|
rs5030812
|
|
NM_000551.4(VHL):c.345C>A (p.His115Gln)
|
rs864622646
|
|
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.349T>C (p.Trp117Arg)
|
|
|
NM_000551.4(VHL):c.349T>G (p.Trp117Gly)
|
rs1696261074
|
|
NM_000551.4(VHL):c.350G>C (p.Trp117Ser)
|
|
|
NM_000551.4(VHL):c.352_353insA (p.Leu118fs)
|
rs869025641
|
|
NM_000551.4(VHL):c.353T>C (p.Leu118Pro)
|
rs5030830
|
|
NM_000551.4(VHL):c.355T>C (p.Phe119Leu)
|
rs1553619948
|
|
NM_000551.4(VHL):c.356T>G (p.Phe119Cys)
|
rs2125128254
|
|
NM_000551.4(VHL):c.357C>G (p.Phe119Leu)
|
rs1559428077
|
|
NM_000551.4(VHL):c.357C>T (p.Phe119=)
|
rs1559428077
|
|
NM_000551.4(VHL):c.358A>G (p.Arg120Gly)
|
rs869025642
|
|
NM_000551.4(VHL):c.361G>A (p.Asp121Asn)
|
|
|
NM_000551.4(VHL):c.362A>G (p.Asp121Gly)
|
rs5030832
|
|
NM_000551.4(VHL):c.362A>T (p.Asp121Val)
|
rs5030832
|
|
NM_000551.4(VHL):c.363dup (p.Ala122fs)
|
rs1575927767
|
|
NM_000551.4(VHL):c.364G>A (p.Ala122Thr)
|
rs1064793291
|
|
NM_000551.4(VHL):c.364G>T (p.Ala122Ser)
|
rs1064793291
|
|
NM_000551.4(VHL):c.365C>A (p.Ala122Glu)
|
|
|
NM_000551.4(VHL):c.365C>G (p.Ala122Gly)
|
rs1696261924
|
|
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.370A>G (p.Thr124Ala)
|
rs1559428091
|
|
NM_000551.4(VHL):c.372_375del (p.His125fs)
|
|
|
NM_000551.4(VHL):c.374_375del (p.His125fs)
|
rs869025644
|
|
NM_000551.4(VHL):c.376G>C (p.Asp126His)
|
rs104893831
|
|
NM_000551.4(VHL):c.376G>T (p.Asp126Tyr)
|
rs104893831
|
|
NM_000551.4(VHL):c.376_382delinsAA (p.Asp126fs)
|
rs1696262643
|
|
NM_000551.4(VHL):c.377_379dup (p.Asp126dup)
|
rs1696262591
|
|
NM_000551.4(VHL):c.377del (p.Asp126fs)
|
rs1553619952
|
|
NM_000551.4(VHL):c.379_380insCAG (p.Asp126_Gly127insAla)
|
rs1559428103
|
|
NM_000551.4(VHL):c.382C>T (p.Leu128Phe)
|
rs1553619956
|
|
NM_000551.4(VHL):c.382_388del (p.Leu129fs)
|
|
|
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.386T>C (p.Leu129Pro)
|
rs1559428119
|
|
NM_000551.4(VHL):c.387G>C (p.Leu129=)
|
rs778846471
|
|
NM_000551.4(VHL):c.388G>A (p.Val130Ile)
|
|
|
NM_000551.4(VHL):c.388G>C (p.Val130Leu)
|
rs104893830
|
|
NM_000551.4(VHL):c.391A>T (p.Asn131Tyr)
|
rs2125128340
|
|
NM_000551.4(VHL):c.392A>G (p.Asn131Ser)
|
rs1553619963
|
|
NM_000551.4(VHL):c.393C>A (p.Asn131Lys)
|
rs1064794272
|
|
NM_000551.4(VHL):c.393C>T (p.Asn131=)
|
|
|
NM_000551.4(VHL):c.394C>T (p.Gln132Ter)
|
rs5030813
|
|
NM_000551.4(VHL):c.397del (p.Thr133fs)
|
rs1559428134
|
|
NM_000551.4(VHL):c.398C>G (p.Thr133Ser)
|
|
|
NM_000551.4(VHL):c.398C>T (p.Thr133Ile)
|
rs1060503565
|
|
NM_000551.4(VHL):c.400G>T (p.Glu134Ter)
|
rs2125128363
|
|
NM_000551.4(VHL):c.402A>G (p.Glu134=)
|
rs201482330
|
|
NM_000551.4(VHL):c.406T>G (p.Phe136Val)
|
|
|
NM_000551.4(VHL):c.407T>C (p.Phe136Ser)
|
rs5030833
|
|
NM_000551.4(VHL):c.408dup (p.Val137fs)
|
|
|
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.415T>C (p.Ser139Pro)
|
rs1696264596
|
|
NM_000551.4(VHL):c.416C>T (p.Ser139Phe)
|
rs587780732
|
|
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.418C>T (p.Leu140Phe)
|
rs768637170
|
|
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)
|
rs1696265107
|
|
NM_000551.4(VHL):c.421A>G (p.Asn141Asp)
|
rs1696265107
|
|
NM_000551.4(VHL):c.422A>G (p.Asn141Ser)
|
rs1064796570
|
|
NM_000551.4(VHL):c.422dup (p.Asn141fs)
|
rs1553619976
|
|
NM_000551.4(VHL):c.425T>C (p.Val142Ala)
|
rs1553619979
|
|
NM_000551.4(VHL):c.425T>G (p.Val142Gly)
|
|
|
NM_000551.4(VHL):c.430G>A (p.Gly144Arg)
|
rs869025650
|
|
NM_000551.4(VHL):c.430G>C (p.Gly144Arg)
|
rs869025650
|
|
NM_000551.4(VHL):c.430G>T (p.Gly144Ter)
|
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.433C>A (p.Gln145Lys)
|
rs749704215
|
|
NM_000551.4(VHL):c.433C>G (p.Gln145Glu)
|
rs749704215
|
|
NM_000551.4(VHL):c.434A>G (p.Gln145Arg)
|
|
|
NM_000551.4(VHL):c.434A>T (p.Gln145Leu)
|
rs864622313
|
|
NM_000551.4(VHL):c.435G>C (p.Gln145His)
|
rs771727849
|
|
NM_000551.4(VHL):c.435_436del (p.Gln145fs)
|
rs869025652
|
|
NM_000551.4(VHL):c.437C>G (p.Pro146Arg)
|
|
|
NM_000551.4(VHL):c.437C>T (p.Pro146Leu)
|
rs1575928079
|
|
NM_000551.4(VHL):c.442T>G (p.Phe148Val)
|
|
|
NM_000551.4(VHL):c.444T>C (p.Phe148=)
|
|
|
NM_000551.4(VHL):c.444del (p.Phe148fs)
|
rs869025653
|
|
NM_000551.4(VHL):c.445G>C (p.Ala149Pro)
|
rs587780077
|
|
NM_000551.4(VHL):c.445G>T (p.Ala149Ser)
|
rs587780077
|
|
NM_000551.4(VHL):c.446C>T (p.Ala149Val)
|
rs1696266503
|
|
NM_000551.4(VHL):c.447C>T (p.Ala149=)
|
rs2125128479
|
|
NM_000551.4(VHL):c.448_449del (p.Asn150fs)
|
rs1696266605
|
|
NM_000551.4(VHL):c.449A>G (p.Asn150Ser)
|
rs760184234
|
|
NM_000551.4(VHL):c.449del (p.Asn150fs)
|
rs794727253
|
|
NM_000551.4(VHL):c.450T>C (p.Asn150=)
|
|
|
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.455C>T (p.Thr152Ile)
|
|
|
NM_000551.4(VHL):c.456A>G (p.Thr152=)
|
|
|
NM_000551.4(VHL):c.457C>T (p.Leu153=)
|
rs2125128512
|
|
NM_000551.4(VHL):c.459G>A (p.Leu153=)
|
rs1382653522
|
|
NM_000551.4(VHL):c.459G>T (p.Leu153=)
|
|
|
NM_000551.4(VHL):c.460C>A (p.Pro154Thr)
|
|
|
NM_000551.4(VHL):c.460C>G (p.Pro154Ala)
|
rs1553619993
|
|
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.462A>G (p.Pro154=)
|
rs1060503562
|
|
NM_000551.4(VHL):c.463+13T>G
|
|
|
NM_000551.4(VHL):c.463+14A>C
|
|
|
NM_000551.4(VHL):c.463+15C>A
|
|
|
NM_000551.4(VHL):c.463+16T>G
|
rs2125128572
|
|
NM_000551.4(VHL):c.463+18T>A
|
|
|
NM_000551.4(VHL):c.463+1G>A
|
rs869025657
|
|
NM_000551.4(VHL):c.463+1G>T
|
rs869025657
|
|
NM_000551.4(VHL):c.463+20dup
|
|
|
NM_000551.4(VHL):c.463+2T>C
|
rs5030814
|
|
NM_000551.4(VHL):c.463+37_463+39del
|
rs869025658
|
|
NM_000551.4(VHL):c.463+3A>C
|
rs1131690954
|
|
NM_000551.4(VHL):c.463+5T>G
|
rs1003364563
|
|
NM_000551.4(VHL):c.463+9G>A
|
rs1057522720
|
|
NM_000551.4(VHL):c.463+9G>T
|
|
|
NM_000551.4(VHL):c.463G>A (p.Val155Met)
|
rs869025659
|
|
NM_000551.4(VHL):c.463G>C (p.Val155Leu)
|
rs869025659
|
|
NM_000551.4(VHL):c.464-12T>C
|
rs746646171
|
|
NM_000551.4(VHL):c.464-16G>A
|
|
|
NM_000551.4(VHL):c.464-16G>C
|
|
|
NM_000551.4(VHL):c.464-16G>T
|
rs1453921703
|
|
NM_000551.4(VHL):c.464-17G>C
|
|
|
NM_000551.4(VHL):c.464-1G>A
|
rs5030817
|
|
NM_000551.4(VHL):c.464-1G>T
|
rs5030817
|
|
NM_000551.4(VHL):c.464-2A>C
|
|
|
NM_000551.4(VHL):c.464-2A>G
|
rs5030816
|
|
NM_000551.4(VHL):c.464-6T>A
|
|
|
NM_000551.4(VHL):c.464-6T>G
|
|
|
NM_000551.4(VHL):c.464-7C>A
|
|
|
NM_000551.4(VHL):c.464-7C>T
|
|
|
NM_000551.4(VHL):c.464-9C>A
|
|
|
NM_000551.4(VHL):c.464-9C>T
|
rs1238907068
|
|
NM_000551.4(VHL):c.464T>G (p.Val155Gly)
|
|
|
NM_000551.4(VHL):c.465G>T (p.Val155=)
|
rs1696354036
|
|
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>T (p.Lys159Ter)
|
rs1575932011
|
|
NM_000551.4(VHL):c.477A>G (p.Lys159=)
|
rs1696354920
|
|
NM_000551.4(VHL):c.477_478insTCA (p.Lys159_Glu160insSer)
|
|
|
NM_000551.4(VHL):c.477del (p.Glu160fs)
|
rs730882020
|
|
NM_000551.4(VHL):c.478G>A (p.Glu160Lys)
|
|
|
NM_000551.4(VHL):c.478G>C (p.Glu160Gln)
|
rs1696354965
|
|
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.483_500dup (p.Cys162_Arg167dup)
|
rs1553620312
|
|
NM_000551.4(VHL):c.484T>C (p.Cys162Arg)
|
rs1553620313
|
|
NM_000551.4(VHL):c.485G>T (p.Cys162Phe)
|
rs397516444
|
|
NM_000551.4(VHL):c.485_486delinsTT (p.Cys162Phe)
|
|
|
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.488T>G (p.Leu163Arg)
|
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.493G>T (p.Val165Phe)
|
rs1575932103
|
|
NM_000551.4(VHL):c.493del (p.Val165fs)
|
|
|
NM_000551.4(VHL):c.494T>G (p.Val165Gly)
|
rs1575932110
|
|
NM_000551.4(VHL):c.495T>A (p.Val165=)
|
|
|
NM_000551.4(VHL):c.496G>A (p.Val166Ile)
|
rs104893825
|
|
NM_000551.4(VHL):c.496G>T (p.Val166Phe)
|
rs104893825
|
|
NM_000551.4(VHL):c.498C>T (p.Val166=)
|
rs2125130531
|
|
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>T (p.Arg167Leu)
|
rs5030821
|
|
NM_000551.4(VHL):c.501G>C (p.Arg167=)
|
rs1461479062
|
|
NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs)
|
rs398123483
|
|
NM_000551.4(VHL):c.503G>A (p.Ser168Asn)
|
|
|
NM_000551.4(VHL):c.504C>T (p.Ser168=)
|
rs1553620323
|
|
NM_000551.4(VHL):c.504_519del (p.Ser168fs)
|
rs2125130543
|
|
NM_000551.4(VHL):c.505C>G (p.Leu169Val)
|
|
|
NM_000551.4(VHL):c.505dup (p.Leu169fs)
|
rs1696357569
|
|
NM_000551.4(VHL):c.506T>C (p.Leu169Pro)
|
rs1131690962
|
|
NM_000551.4(VHL):c.507A>G (p.Leu169=)
|
|
|
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>G (p.Val170=)
|
|
|
NM_000551.4(VHL):c.511A>G (p.Lys171Glu)
|
|
|
NM_000551.4(VHL):c.512A>G (p.Lys171Arg)
|
rs1696358528
|
|
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>G (p.Pro172Arg)
|
|
|
NM_000551.4(VHL):c.516T>G (p.Pro172=)
|
rs1575932227
|
|
NM_000551.4(VHL):c.519G>A (p.Glu173=)
|
|
|
NM_000551.4(VHL):c.519G>C (p.Glu173Asp)
|
rs1696359154
|
|
NM_000551.4(VHL):c.520A>T (p.Asn174Tyr)
|
rs1060503566
|
|
NM_000551.4(VHL):c.521A>G (p.Asn174Ser)
|
rs1575932235
|
|
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.524dup (p.Tyr175Ter)
|
|
|
NM_000551.4(VHL):c.525C>G (p.Tyr175Ter)
|
rs5030835
|
|
NM_000551.4(VHL):c.525C>T (p.Tyr175=)
|
rs5030835
|
|
NM_000551.4(VHL):c.530G>C (p.Arg177Thr)
|
rs1470394966
|
|
NM_000551.4(VHL):c.531A>T (p.Arg177Ser)
|
rs766088261
|
|
NM_000551.4(VHL):c.532C>G (p.Leu178Val)
|
rs755146587
|
|
NM_000551.4(VHL):c.532C>T (p.Leu178=)
|
rs755146587
|
|
NM_000551.4(VHL):c.533T>C (p.Leu178Pro)
|
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.535G>C (p.Asp179His)
|
rs767780451
|
|
NM_000551.4(VHL):c.537C>T (p.Asp179=)
|
|
|
NM_000551.4(VHL):c.538A>C (p.Ile180Leu)
|
|
|
NM_000551.4(VHL):c.540C>G (p.Ile180Met)
|
rs374927292
|
|
NM_000551.4(VHL):c.540_543del (p.Val181fs)
|
rs869025664
|
|
NM_000551.4(VHL):c.541G>A (p.Val181Ile)
|
rs878854127
|
|
NM_000551.4(VHL):c.542T>C (p.Val181Ala)
|
rs1553620340
|
|
NM_000551.4(VHL):c.545G>A (p.Arg182Lys)
|
rs749774529
|
|
NM_000551.4(VHL):c.545G>C (p.Arg182Thr)
|
rs749774529
|
|
NM_000551.4(VHL):c.545G>T (p.Arg182Met)
|
rs749774529
|
|
NM_000551.4(VHL):c.548C>A (p.Ser183Ter)
|
rs5030823
|
|
NM_000551.4(VHL):c.548C>G (p.Ser183Trp)
|
rs5030823
|
|
NM_000551.4(VHL):c.549G>T (p.Ser183=)
|
rs193922614
|
|
NM_000551.4(VHL):c.550C>G (p.Leu184Val)
|
rs1696361913
|
|
NM_000551.4(VHL):c.552C>G (p.Leu184=)
|
|
|
NM_000551.4(VHL):c.553T>C (p.Tyr185His)
|
rs768390987
|
|
NM_000551.4(VHL):c.554A>T (p.Tyr185Phe)
|
|
|
NM_000551.4(VHL):c.555C>A (p.Tyr185Ter)
|
|
|
NM_000551.4(VHL):c.555C>G (p.Tyr185Ter)
|
rs864622109
|
|
NM_000551.4(VHL):c.556G>C (p.Glu186Gln)
|
rs367545984
|
|
NM_000551.4(VHL):c.558A>C (p.Glu186Asp)
|
rs587778744
|
|
NM_000551.4(VHL):c.558_560del (p.Glu186del)
|
rs1559429813
|
|
NM_000551.4(VHL):c.562C>T (p.Leu188=)
|
|
|
NM_000551.4(VHL):c.563T>C (p.Leu188Pro)
|
rs1559429824
|
|
NM_000551.4(VHL):c.563T>G (p.Leu188Arg)
|
rs1559429824
|
|
NM_000551.4(VHL):c.568_570dup (p.Asp190dup)
|
rs1559429840
|
|
NM_000551.4(VHL):c.570C>T (p.Asp190=)
|
rs2125130723
|
|
NM_000551.4(VHL):c.571C>G (p.His191Asp)
|
rs28940301
|
|
NM_000551.4(VHL):c.571C>T (p.His191Tyr)
|
|
|
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.573C>T (p.His191=)
|
|
|
NM_000551.4(VHL):c.574C>A (p.Pro192Thr)
|
rs28940300
|
|
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.579T>C (p.Asn193=)
|
rs1060503558
|
|
NM_000551.4(VHL):c.581T>G (p.Val194Gly)
|
rs1131690963
|
|
NM_000551.4(VHL):c.582G>T (p.Val194=)
|
|
|
NM_000551.4(VHL):c.584A>C (p.Gln195Pro)
|
|
|
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.586A>T (p.Lys196Ter)
|
rs281860296
|
|
NM_000551.4(VHL):c.588A>G (p.Lys196=)
|
rs935543450
|
|
NM_000551.4(VHL):c.591C>T (p.Asp197=)
|
rs1575932584
|
|
NM_000551.4(VHL):c.592C>G (p.Leu198Val)
|
rs1187217673
|
|
NM_000551.4(VHL):c.592C>T (p.Leu198=)
|
rs1187217673
|
|
NM_000551.4(VHL):c.592_594del (p.Leu198del)
|
rs2125130773
|
|
NM_000551.4(VHL):c.593T>A (p.Leu198Gln)
|
rs869025667
|
|
NM_000551.4(VHL):c.594G>A (p.Leu198=)
|
rs1575932599
|
|
NM_000551.4(VHL):c.595G>A (p.Glu199Lys)
|
rs1325187978
|
|
NM_000551.4(VHL):c.596A>G (p.Glu199Gly)
|
rs760690217
|
|
NM_000551.4(VHL):c.596A>T (p.Glu199Val)
|
rs760690217
|
|
NM_000551.4(VHL):c.597G>A (p.Glu199=)
|
rs1387975369
|
|
NM_000551.4(VHL):c.599G>T (p.Arg200Leu)
|
rs754016774
|
|
NM_000551.4(VHL):c.601C>T (p.Leu201=)
|
rs786201557
|
|
NM_000551.4(VHL):c.603G>C (p.Leu201=)
|
|
|
NM_000551.4(VHL):c.606A>C (p.Thr202=)
|
rs1575932637
|
|
NM_000551.4(VHL):c.606dup (p.Gln203fs)
|
rs1696365502
|
|
NM_000551.4(VHL):c.607C>A (p.Gln203Lys)
|
rs750711842
|
|
NM_000551.4(VHL):c.607C>T (p.Gln203Ter)
|
rs750711842
|
|
NM_000551.4(VHL):c.607_623del (p.Gln203fs)
|
|
|
NM_000551.4(VHL):c.609G>A (p.Gln203=)
|
|
|
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>A (p.Arg205Ser)
|
rs199926195
|
|
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>C (p.Arg205Pro)
|
|
|
NM_000551.4(VHL):c.614G>T (p.Arg205Leu)
|
rs777130107
|
|
NM_000551.4(VHL):c.614_615del (p.Arg205fs)
|
rs730882030
|
|
NM_000551.4(VHL):c.616A>G (p.Ile206Val)
|
|
|
NM_000551.4(VHL):c.617_618delinsAG (p.Ile206Lys)
|
rs1060503567
|
|
NM_000551.4(VHL):c.618T>C (p.Ile206=)
|
rs1575932691
|
|
NM_000551.4(VHL):c.619G>A (p.Ala207Thr)
|
rs1696366320
|
|
NM_000551.4(VHL):c.619_620delinsAA (p.Ala207Lys)
|
rs2125130853
|
|
NM_000551.4(VHL):c.622C>T (p.His208Tyr)
|
rs121913347
|
|
NM_000551.4(VHL):c.623A>G (p.His208Arg)
|
rs1696366534
|
|
NM_000551.4(VHL):c.625C>G (p.Gln209Glu)
|
rs1559429968
|
|
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.630G>A (p.Arg210=)
|
rs1575932755
|
|
NM_000551.4(VHL):c.630del (p.Met211fs)
|
rs2125130871
|
|
NM_000551.4(VHL):c.632T>C (p.Met211Thr)
|
rs1366708242
|
|
NM_000551.4(VHL):c.633G>A (p.Met211Ile)
|
|
|
NM_000551.4(VHL):c.634G>A (p.Gly212Arg)
|
rs1553620389
|
|
NM_000551.4(VHL):c.638A>G (p.Asp213Gly)
|
rs1553620394
|
|
NM_000551.4(VHL):c.639T>G (p.Asp213Glu)
|
|
|
NM_000551.4(VHL):c.639_642dup (p.Asp213_Ter214=)
|
rs1696368069
|
|
NM_000551.4(VHL):c.640T>A (p.Ter214Arg)
|
rs1575932781
|
|
NM_000551.4(VHL):c.640T>C (p.Ter214Arg)
|
|
|
NM_000551.4(VHL):c.641G>T (p.Ter214Leu)
|
rs869025668
|
|