NM_000551.3(VHL):c.-195G>A
|
rs779805
|
0.56161
|
NM_000551.4(VHL):c.340+648T>C
|
rs73024533
|
0.01009
|
NM_000551.4(VHL):c.74C>T (p.Pro25Leu)
|
rs35460768
|
0.00261
|
NM_000551.4(VHL):c.340+5G>C
|
rs61758376
|
0.00190
|
NM_000551.3(VHL):c.-97T>G
|
rs34271731
|
0.00106
|
NM_000551.4(VHL):c.-5A>C
|
rs35793832
|
0.00106
|
NM_000551.4(VHL):c.150C>G (p.Ala50=)
|
rs61751580
|
0.00070
|
NM_000551.4(VHL):c.183C>G (p.Pro61=)
|
rs63650860
|
0.00067
|
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.241C>T (p.Pro81Ser)
|
rs104893829
|
0.00039
|
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.-64C>T
|
rs772944298
|
0.00014
|
NM_000551.4(VHL):c.246C>T (p.Arg82=)
|
rs587780993
|
0.00014
|
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.25G>A (p.Asp9Asn)
|
rs587780730
|
0.00008
|
NM_000551.4(VHL):c.340+691C>G
|
rs1041395081
|
0.00008
|
NM_000551.4(VHL):c.5C>T (p.Pro2Leu)
|
rs111246617
|
0.00008
|
NM_000551.4(VHL):c.115G>C (p.Gly39Arg)
|
rs768650092
|
0.00007
|
NM_000551.4(VHL):c.135G>A (p.Pro45=)
|
rs773519476
|
0.00007
|
NM_000551.4(VHL):c.312C>T (p.Gly104=)
|
rs946898891
|
0.00007
|
NM_000551.4(VHL):c.-47C>T
|
rs745439844
|
0.00006
|
NM_000551.4(VHL):c.28G>A (p.Glu10Lys)
|
rs1057519261
|
0.00006
|
NM_000551.4(VHL):c.340+10C>T
|
rs777622214
|
0.00006
|
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.89G>A (p.Gly30Glu)
|
rs1064793290
|
0.00006
|
NM_000551.4(VHL):c.-55del
|
rs1361905543
|
0.00005
|
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.119C>T (p.Pro40Leu)
|
rs200343185
|
0.00004
|
NM_000551.4(VHL):c.167C>G (p.Ala56Gly)
|
rs752980085
|
0.00004
|
NM_000551.4(VHL):c.213C>T (p.Pro71=)
|
rs201663073
|
0.00004
|
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.22T>C (p.Trp8Arg)
|
rs1352171735
|
0.00003
|
NM_000551.4(VHL):c.274G>T (p.Asp92Tyr)
|
rs587780731
|
0.00003
|
NM_000551.4(VHL):c.340+20G>A
|
rs757151154
|
0.00003
|
NM_000551.4(VHL):c.340+705G>A
|
rs1411141967
|
0.00003
|
NM_000551.4(VHL):c.340+8C>A
|
rs756068442
|
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.54A>C (p.Ala18=)
|
rs1305687580
|
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.114C>T (p.Ser38=)
|
rs417164
|
0.00002
|
NM_000551.4(VHL):c.14C>T (p.Ala5Val)
|
rs755333116
|
0.00002
|
NM_000551.4(VHL):c.237C>T (p.Arg79=)
|
rs760899424
|
0.00002
|
NM_000551.4(VHL):c.267C>A (p.Leu89=)
|
rs755794553
|
0.00002
|
NM_000551.4(VHL):c.301C>T (p.Leu101=)
|
rs772300829
|
0.00002
|
NM_000551.4(VHL):c.315G>C (p.Thr105=)
|
rs769102979
|
0.00002
|
NM_000551.4(VHL):c.31G>C (p.Ala11Pro)
|
rs1236604706
|
0.00002
|
NM_000551.4(VHL):c.323G>A (p.Arg108His)
|
rs367594943
|
0.00002
|
NM_000551.4(VHL):c.336C>T (p.Tyr112=)
|
rs751232153
|
0.00002
|
NM_000551.4(VHL):c.340+11G>A
|
rs1309285376
|
0.00002
|
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.7C>T (p.Arg3Trp)
|
rs878854130
|
0.00002
|
NM_000551.4(VHL):c.102C>T (p.Gly34=)
|
rs967421751
|
0.00001
|
NM_000551.4(VHL):c.105C>G (p.Ala35=)
|
rs1310829877
|
0.00001
|
NM_000551.4(VHL):c.108G>A (p.Glu36=)
|
rs1553619344
|
0.00001
|
NM_000551.4(VHL):c.111G>C (p.Glu37Asp)
|
rs1398333169
|
0.00001
|
NM_000551.4(VHL):c.116G>A (p.Gly39Asp)
|
rs368473853
|
0.00001
|
NM_000551.4(VHL):c.118C>T (p.Pro40Ser)
|
rs776399733
|
0.00001
|
NM_000551.4(VHL):c.124G>A (p.Glu42Lys)
|
rs1696122809
|
0.00001
|
NM_000551.4(VHL):c.129C>T (p.Ser43=)
|
rs864622645
|
0.00001
|
NM_000551.4(VHL):c.134C>G (p.Pro45Arg)
|
rs199583685
|
0.00001
|
NM_000551.4(VHL):c.139G>A (p.Glu47Lys)
|
rs1457039250
|
0.00001
|
NM_000551.4(VHL):c.143T>G (p.Leu48Arg)
|
rs199959170
|
0.00001
|
NM_000551.4(VHL):c.171G>A (p.Gly57=)
|
rs750103719
|
0.00001
|
NM_000551.4(VHL):c.172C>T (p.Arg58Trp)
|
rs757781272
|
0.00001
|
NM_000551.4(VHL):c.180G>C (p.Arg60=)
|
rs1224891387
|
0.00001
|
NM_000551.4(VHL):c.182C>T (p.Pro61Leu)
|
rs746582207
|
0.00001
|
NM_000551.4(VHL):c.184G>C (p.Val62Leu)
|
rs747861291
|
0.00001
|
NM_000551.4(VHL):c.192C>T (p.Arg64=)
|
rs1012545817
|
0.00001
|
NM_000551.4(VHL):c.1A>T (p.Met1Leu)
|
rs1060503557
|
0.00001
|
NM_000551.4(VHL):c.205C>G (p.Arg69Gly)
|
rs1428175816
|
0.00001
|
NM_000551.4(VHL):c.216C>T (p.Ser72=)
|
rs774557051
|
0.00001
|
NM_000551.4(VHL):c.21C>A (p.Asn7Lys)
|
rs1060503561
|
0.00001
|
NM_000551.4(VHL):c.222C>G (p.Val74=)
|
rs759737367
|
0.00001
|
NM_000551.4(VHL):c.225C>T (p.Ile75=)
|
rs768104793
|
0.00001
|
NM_000551.4(VHL):c.228C>G (p.Phe76Leu)
|
rs1575921940
|
0.00001
|
NM_000551.4(VHL):c.235C>T (p.Arg79Cys)
|
rs200885420
|
0.00001
|
NM_000551.4(VHL):c.242C>T (p.Pro81Leu)
|
rs193922608
|
0.00001
|
NM_000551.4(VHL):c.247G>C (p.Val83Leu)
|
rs751042065
|
0.00001
|
NM_000551.4(VHL):c.249C>G (p.Val83=)
|
rs1271292937
|
0.00001
|
NM_000551.4(VHL):c.252G>C (p.Val84=)
|
rs1436342215
|
0.00001
|
NM_000551.4(VHL):c.255G>A (p.Leu85=)
|
rs876658508
|
0.00001
|
NM_000551.4(VHL):c.258C>G (p.Pro86=)
|
rs781063331
|
0.00001
|
NM_000551.4(VHL):c.261A>G (p.Val87=)
|
rs1386184754
|
0.00001
|
NM_000551.4(VHL):c.275A>T (p.Asp92Val)
|
rs749091984
|
0.00001
|
NM_000551.4(VHL):c.284C>T (p.Pro95Leu)
|
rs964996401
|
0.00001
|
NM_000551.4(VHL):c.285G>T (p.Pro95=)
|
rs975432073
|
0.00001
|
NM_000551.4(VHL):c.289C>T (p.Pro97Ser)
|
rs863224688
|
0.00001
|
NM_000551.4(VHL):c.291C>G (p.Pro97=)
|
rs1805159
|
0.00001
|
NM_000551.4(VHL):c.292T>C (p.Tyr98His)
|
rs5030809
|
0.00001
|
NM_000551.4(VHL):c.295C>G (p.Pro99Ala)
|
rs549807529
|
0.00001
|
NM_000551.4(VHL):c.298A>G (p.Thr100Ala)
|
rs745901803
|
0.00001
|
NM_000551.4(VHL):c.305C>T (p.Pro102Leu)
|
rs1379270197
|
0.00001
|
NM_000551.4(VHL):c.338G>C (p.Arg113Pro)
|
rs767062290
|
0.00001
|
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.34G>C (p.Glu12Gln)
|
rs1064794788
|
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.37G>A (p.Val13Ile)
|
rs919338576
|
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.38T>G (p.Val13Gly)
|
rs1553619289
|
0.00001
|
NM_000551.4(VHL):c.39A>G (p.Val13=)
|
rs996469746
|
0.00001
|
NM_000551.4(VHL):c.408T>G (p.Phe136Leu)
|
rs878854125
|
0.00001
|
NM_000551.4(VHL):c.40G>C (p.Gly14Arg)
|
rs1060503559
|
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.46G>C (p.Glu16Gln)
|
rs1060503556
|
0.00001
|
NM_000551.4(VHL):c.471T>C (p.Thr157=)
|
rs1252473811
|
0.00001
|
NM_000551.4(VHL):c.48G>A (p.Glu16=)
|
rs1057522140
|
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.4C>G (p.Pro2Ala)
|
rs1034974221
|
0.00001
|
NM_000551.4(VHL):c.4C>T (p.Pro2Ser)
|
rs1034974221
|
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
|
NM_000551.4(VHL):c.71G>A (p.Gly24Asp)
|
rs878854129
|
0.00001
|
NM_000551.4(VHL):c.73C>G (p.Pro25Ala)
|
rs745338799
|
0.00001
|
NM_000551.4(VHL):c.88G>A (p.Gly30Arg)
|
rs913104799
|
0.00001
|
NM_000551.4(VHL):c.8G>C (p.Arg3Pro)
|
rs1178481595
|
0.00001
|
NM_000551.4(VHL):c.90G>A (p.Gly30=)
|
rs391818
|
0.00001
|
NM_000551.4(VHL):c.93G>C (p.Glu31Asp)
|
rs1438911242
|
0.00001
|
NM_000551.4(VHL):c.95A>G (p.Glu32Gly)
|
rs786203104
|
0.00001
|
NM_000551.4(VHL):c.98C>A (p.Ser33Ter)
|
rs1476994915
|
0.00001
|
NM_000551.4(VHL):c.98C>T (p.Ser33Leu)
|
rs1476994915
|
0.00001
|
NM_000551.4(VHL):c.99G>C (p.Ser33=)
|
rs912159589
|
0.00001
|
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.(?_10183522)_(10188330_?)dup
|
|
|
NC_000003.11:g.(?_10183526)_(10191655_?)dup
|
|
|
NC_000003.11:g.(?_10183532)_(10188330_?)del
|
|
|
NC_000003.11:g.(?_10183532)_(10188330_?)dup
|
|
|
NC_000003.11:g.(?_10183579)_(10185909_?)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_?)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.(?_10146508)_(10149971_?)del
|
|
|
NC_000003.12:g.(?_10146514)_(10146636_?)del
|
|
|
NC_000003.12:g.(?_10149777)_(10149975_?)del
|
|
|
NC_000003.12:g.(?_10149777)_(10150035_?)del
|
|
|
NC_000003.12:g.10141762_10141816del
|
|
|
NM_000551.3(VHL):c.464-?_*3705del
|
|
|
NM_000551.4(VHL):c.*7C>G
|
rs778005138
|
|
NM_000551.4(VHL):c.-39_-10del
|
|
|
NM_000551.4(VHL):c.-44G>A
|
|
|
NM_000551.4(VHL):c.-45C>A
|
rs372483939
|
|
NM_000551.4(VHL):c.-45C>T
|
|
|
NM_000551.4(VHL):c.-48C>T
|
|
|
NM_000551.4(VHL):c.-49C>T
|
|
|
NM_000551.4(VHL):c.-51G>A
|
|
|
NM_000551.4(VHL):c.-61_-51dup
|
rs727503743
|
|
NM_000551.4(VHL):c.103G>A (p.Ala35Thr)
|
rs1405360663
|
|
NM_000551.4(VHL):c.103_117dup (p.Ala35_Gly39dup)
|
rs1553619337
|
|
NM_000551.4(VHL):c.104C>A (p.Ala35Asp)
|
rs587780536
|
|
NM_000551.4(VHL):c.104C>T (p.Ala35Val)
|
rs587780536
|
|
NM_000551.4(VHL):c.105C>A (p.Ala35=)
|
rs1310829877
|
|
NM_000551.4(VHL):c.106G>A (p.Glu36Lys)
|
rs1696121268
|
|
NM_000551.4(VHL):c.106G>T (p.Glu36Ter)
|
rs1696121268
|
|
NM_000551.4(VHL):c.107_114del (p.Glu36fs)
|
|
|
NM_000551.4(VHL):c.108_122dup (p.38_42SGPEE[3])
|
rs1340164546
|
|
NM_000551.4(VHL):c.109G>T (p.Glu37Ter)
|
rs1338996432
|
|
NM_000551.4(VHL):c.10A>G (p.Arg4Gly)
|
rs886057702
|
|
NM_000551.4(VHL):c.10_11delinsTT (p.Arg4Leu)
|
rs1575920840
|
|
NM_000551.4(VHL):c.111G>A (p.Glu37=)
|
|
|
NM_000551.4(VHL):c.112_156del (p.Ser38_Glu52del)
|
rs1575921303
|
|
NM_000551.4(VHL):c.112_156dup (p.Ser38_Glu52dup)
|
rs1575921303
|
|
NM_000551.4(VHL):c.113C>T (p.Ser38Phe)
|
rs867958699
|
|
NM_000551.4(VHL):c.115G>A (p.Gly39Ser)
|
rs768650092
|
|
NM_000551.4(VHL):c.116G>C (p.Gly39Ala)
|
|
|
NM_000551.4(VHL):c.116G>T (p.Gly39Val)
|
rs368473853
|
|
NM_000551.4(VHL):c.117C>T (p.Gly39=)
|
rs1057521552
|
|
NM_000551.4(VHL):c.118C>A (p.Pro40Thr)
|
|
|
NM_000551.4(VHL):c.118C>G (p.Pro40Ala)
|
rs776399733
|
|
NM_000551.4(VHL):c.119C>A (p.Pro40Gln)
|
|
|
NM_000551.4(VHL):c.119C>G (p.Pro40Arg)
|
rs200343185
|
|
NM_000551.4(VHL):c.11G>T (p.Arg4Met)
|
rs886057703
|
|
NM_000551.4(VHL):c.120G>A (p.Pro40=)
|
rs1189123803
|
|
NM_000551.4(VHL):c.121G>A (p.Glu41Lys)
|
rs1475252559
|
|
NM_000551.4(VHL):c.122A>C (p.Glu41Ala)
|
|
|
NM_000551.4(VHL):c.122A>G (p.Glu41Gly)
|
|
|
NM_000551.4(VHL):c.122A>T (p.Glu41Val)
|
rs1696122750
|
|
NM_000551.4(VHL):c.123A>G (p.Glu41=)
|
rs2125124753
|
|
NM_000551.4(VHL):c.123_137del (p.38SGPEE[1])
|
rs863224839
|
|
NM_000551.4(VHL):c.123_137dup (p.38SGPEE[3])
|
rs863224839
|
|
NM_000551.4(VHL):c.124G>C (p.Glu42Gln)
|
rs1696122809
|
|
NM_000551.4(VHL):c.125A>C (p.Glu42Ala)
|
rs1064796244
|
|
NM_000551.4(VHL):c.125A>G (p.Glu42Gly)
|
rs1064796244
|
|
NM_000551.4(VHL):c.127T>C (p.Ser43Pro)
|
rs1696123001
|
|
NM_000551.4(VHL):c.128C>G (p.Ser43Cys)
|
rs202164771
|
|
NM_000551.4(VHL):c.129C>G (p.Ser43=)
|
rs864622645
|
|
NM_000551.4(VHL):c.12G>A (p.Arg4=)
|
rs1553619274
|
|
NM_000551.4(VHL):c.130G>A (p.Gly44Ser)
|
rs1575921446
|
|
NM_000551.4(VHL):c.130G>C (p.Gly44Arg)
|
rs1575921446
|
|
NM_000551.4(VHL):c.130G>T (p.Gly44Cys)
|
|
|
NM_000551.4(VHL):c.131G>A (p.Gly44Asp)
|
rs1056226386
|
|
NM_000551.4(VHL):c.131G>C (p.Gly44Ala)
|
rs1056226386
|
|
NM_000551.4(VHL):c.131G>T (p.Gly44Val)
|
rs1056226386
|
|
NM_000551.4(VHL):c.132C>T (p.Gly44=)
|
rs1696123413
|
|
NM_000551.4(VHL):c.133C>G (p.Pro45Ala)
|
rs1575921452
|
|
NM_000551.4(VHL):c.133C>T (p.Pro45Ser)
|
|
|
NM_000551.4(VHL):c.134C>T (p.Pro45Leu)
|
rs199583685
|
|
NM_000551.4(VHL):c.135G>C (p.Pro45=)
|
rs773519476
|
|
NM_000551.4(VHL):c.135G>T (p.Pro45=)
|
|
|
NM_000551.4(VHL):c.137A>C (p.Glu46Ala)
|
|
|
NM_000551.4(VHL):c.138G>T (p.Glu46Asp)
|
|
|
NM_000551.4(VHL):c.138_160del (p.Glu46fs)
|
rs1209079089
|
|
NM_000551.4(VHL):c.139G>T (p.Glu47Ter)
|
rs1457039250
|
|
NM_000551.4(VHL):c.13G>C (p.Ala5Pro)
|
rs1559425498
|
|
NM_000551.4(VHL):c.13G>T (p.Ala5Ser)
|
rs1559425498
|
|
NM_000551.4(VHL):c.141A>G (p.Glu47=)
|
rs1353920298
|
|
NM_000551.4(VHL):c.142C>A (p.Leu48Met)
|
|
|
NM_000551.4(VHL):c.143T>A (p.Leu48Gln)
|
rs199959170
|
|
NM_000551.4(VHL):c.145G>C (p.Gly49Arg)
|
rs1696124265
|
|
NM_000551.4(VHL):c.146G>A (p.Gly49Asp)
|
rs1252338161
|
|
NM_000551.4(VHL):c.146G>T (p.Gly49Val)
|
rs1252338161
|
|
NM_000551.4(VHL):c.147C>A (p.Gly49=)
|
|
|
NM_000551.4(VHL):c.148G>A (p.Ala50Thr)
|
rs1696124466
|
|
NM_000551.4(VHL):c.148G>C (p.Ala50Pro)
|
rs1696124466
|
|
NM_000551.4(VHL):c.149C>G (p.Ala50Gly)
|
rs766576246
|
|
NM_000551.4(VHL):c.149C>T (p.Ala50Val)
|
rs766576246
|
|
NM_000551.4(VHL):c.150C>A (p.Ala50=)
|
rs61751580
|
|
NM_000551.4(VHL):c.151G>A (p.Glu51Lys)
|
rs1480825246
|
|
NM_000551.4(VHL):c.151G>C (p.Glu51Gln)
|
rs1480825246
|
|
NM_000551.4(VHL):c.154G>A (p.Glu52Lys)
|
rs373068386
|
|
NM_000551.4(VHL):c.154G>T (p.Glu52Ter)
|
rs373068386
|
|
NM_000551.4(VHL):c.156G>A (p.Glu52=)
|
rs2125124847
|
|
NM_000551.4(VHL):c.158A>G (p.Glu53Gly)
|
rs2125124854
|
|
NM_000551.4(VHL):c.159G>A (p.Glu53=)
|
rs1553619385
|
|
NM_000551.4(VHL):c.159G>C (p.Glu53Asp)
|
rs1553619385
|
|
NM_000551.4(VHL):c.15G>A (p.Ala5=)
|
rs1355874307
|
|
NM_000551.4(VHL):c.160A>T (p.Met54Leu)
|
rs1696125033
|
|
NM_000551.4(VHL):c.161T>G (p.Met54Arg)
|
|
|
NM_000551.4(VHL):c.162G>A (p.Met54Ile)
|
|
|
NM_000551.4(VHL):c.163G>C (p.Glu55Gln)
|
rs2125124873
|
|
NM_000551.4(VHL):c.163dup (p.Glu55fs)
|
rs869025615
|
|
NM_000551.4(VHL):c.164A>G (p.Glu55Gly)
|
rs1328776664
|
|
NM_000551.4(VHL):c.164A>T (p.Glu55Val)
|
|
|
NM_000551.4(VHL):c.164_171dup (p.Arg60fs)
|
rs886041345
|
|
NM_000551.4(VHL):c.165G>A (p.Glu55=)
|
rs1553619391
|
|
NM_000551.4(VHL):c.166G>A (p.Ala56Thr)
|
|
|
NM_000551.4(VHL):c.167C>T (p.Ala56Val)
|
rs752980085
|
|
NM_000551.4(VHL):c.168C>A (p.Ala56=)
|
rs864622714
|
|
NM_000551.4(VHL):c.168C>G (p.Ala56=)
|
rs864622714
|
|
NM_000551.4(VHL):c.168C>T (p.Ala56=)
|
rs864622714
|
|
NM_000551.4(VHL):c.169G>A (p.Gly57Arg)
|
rs1064795194
|
|
NM_000551.4(VHL):c.169G>C (p.Gly57Arg)
|
rs1064795194
|
|
NM_000551.4(VHL):c.169G>T (p.Gly57Trp)
|
rs1064795194
|
|
NM_000551.4(VHL):c.16G>C (p.Glu6Gln)
|
|
|
NM_000551.4(VHL):c.16G>T (p.Glu6Ter)
|
rs545406510
|
|
NM_000551.4(VHL):c.170G>C (p.Gly57Ala)
|
rs764755691
|
|
NM_000551.4(VHL):c.171G>C (p.Gly57=)
|
rs750103719
|
|
NM_000551.4(VHL):c.172C>A (p.Arg58=)
|
rs757781272
|
|
NM_000551.4(VHL):c.173G>A (p.Arg58Gln)
|
rs1553619400
|
|
NM_000551.4(VHL):c.174G>A (p.Arg58=)
|
rs2125124907
|
|
NM_000551.4(VHL):c.175C>T (p.Pro59Ser)
|
rs876659041
|
|
NM_000551.4(VHL):c.176C>A (p.Pro59Gln)
|
rs1696126408
|
|
NM_000551.4(VHL):c.176C>T (p.Pro59Leu)
|
|
|
NM_000551.4(VHL):c.177G>A (p.Pro59=)
|
rs2125124920
|
|
NM_000551.4(VHL):c.178C>G (p.Arg60Gly)
|
rs1035077469
|
|
NM_000551.4(VHL):c.178C>T (p.Arg60Trp)
|
rs1035077469
|
|
NM_000551.4(VHL):c.179G>C (p.Arg60Pro)
|
rs1696126647
|
|
NM_000551.4(VHL):c.179G>T (p.Arg60Leu)
|
rs1696126647
|
|
NM_000551.4(VHL):c.179_192del (p.Arg60fs)
|
rs1064796408
|
|
NM_000551.4(VHL):c.17A>C (p.Glu6Ala)
|
rs1696114029
|
|
NM_000551.4(VHL):c.180G>A (p.Arg60=)
|
rs1224891387
|
|
NM_000551.4(VHL):c.180del (p.Val62fs)
|
rs730882037
|
|
NM_000551.4(VHL):c.181C>G (p.Pro61Ala)
|
rs113612866
|
|
NM_000551.4(VHL):c.181C>T (p.Pro61Ser)
|
rs113612866
|
|
NM_000551.4(VHL):c.182C>G (p.Pro61Arg)
|
rs746582207
|
|
NM_000551.4(VHL):c.182_183del (p.Pro61fs)
|
|
|
NM_000551.4(VHL):c.183C>A (p.Pro61=)
|
rs63650860
|
|
NM_000551.4(VHL):c.183C>T (p.Pro61=)
|
rs63650860
|
|
NM_000551.4(VHL):c.184G>A (p.Val62Met)
|
rs747861291
|
|
NM_000551.4(VHL):c.184del (p.Val62fs)
|
|
|
NM_000551.4(VHL):c.185T>A (p.Val62Glu)
|
rs1696127941
|
|
NM_000551.4(VHL):c.185T>C (p.Val62Ala)
|
rs1696127941
|
|
NM_000551.4(VHL):c.186_187delinsTT (p.Val62_Leu63=)
|
rs2125124945
|
|
NM_000551.4(VHL):c.187C>T (p.Leu63=)
|
|
|
NM_000551.4(VHL):c.188T>A (p.Leu63Gln)
|
rs104893827
|
|
NM_000551.4(VHL):c.188T>C (p.Leu63Pro)
|
rs104893827
|
|
NM_000551.4(VHL):c.189G>A (p.Leu63=)
|
rs1575921711
|
|
NM_000551.4(VHL):c.189_193dup (p.Ser65fs)
|
|
|
NM_000551.4(VHL):c.18G>A (p.Glu6=)
|
rs1004620245
|
|
NM_000551.4(VHL):c.18G>C (p.Glu6Asp)
|
|
|
NM_000551.4(VHL):c.18G>T (p.Glu6Asp)
|
rs1004620245
|
|
NM_000551.4(VHL):c.190C>A (p.Arg64Ser)
|
rs1487408934
|
|
NM_000551.4(VHL):c.191G>A (p.Arg64His)
|
rs104893826
|
|
NM_000551.4(VHL):c.191G>C (p.Arg64Pro)
|
rs104893826
|
|
NM_000551.4(VHL):c.191dup (p.Ser65fs)
|
|
|
NM_000551.4(VHL):c.193T>A (p.Ser65Thr)
|
rs869025616
|
|
NM_000551.4(VHL):c.194C>A (p.Ser65Ter)
|
rs5030826
|
|
NM_000551.4(VHL):c.194C>G (p.Ser65Trp)
|
rs5030826
|
|
NM_000551.4(VHL):c.194C>T (p.Ser65Leu)
|
rs5030826
|
|
NM_000551.4(VHL):c.195G>C (p.Ser65=)
|
rs1553619409
|
|
NM_000551.4(VHL):c.198G>A (p.Val66=)
|
|
|
NM_000551.4(VHL):c.199A>C (p.Asn67His)
|
rs1064794129
|
|
NM_000551.4(VHL):c.1A>G (p.Met1Val)
|
rs1060503557
|
|
NM_000551.4(VHL):c.200A>C (p.Asn67Thr)
|
|
|
NM_000551.4(VHL):c.200A>G (p.Asn67Ser)
|
|
|
NM_000551.4(VHL):c.201C>G (p.Asn67Lys)
|
|
|
NM_000551.4(VHL):c.201C>T (p.Asn67=)
|
rs769658318
|
|
NM_000551.4(VHL):c.202T>C (p.Ser68Pro)
|
|
|
NM_000551.4(VHL):c.203C>A (p.Ser68Ter)
|
rs869025617
|
|
NM_000551.4(VHL):c.203C>T (p.Ser68Leu)
|
rs869025617
|
|
NM_000551.4(VHL):c.204G>C (p.Ser68=)
|
rs773246608
|
|
NM_000551.4(VHL):c.204G>T (p.Ser68=)
|
rs773246608
|
|
NM_000551.4(VHL):c.204dup (p.Arg69fs)
|
|
|
NM_000551.4(VHL):c.205C>T (p.Arg69Cys)
|
rs1428175816
|
|
NM_000551.4(VHL):c.206G>T (p.Arg69Leu)
|
rs1171336955
|
|
NM_000551.4(VHL):c.207C>G (p.Arg69=)
|
rs1060503550
|
|
NM_000551.4(VHL):c.207C>T (p.Arg69=)
|
rs1060503550
|
|
NM_000551.4(VHL):c.208G>A (p.Glu70Lys)
|
rs5030802
|
|
NM_000551.4(VHL):c.208G>C (p.Glu70Gln)
|
rs5030802
|
|
NM_000551.4(VHL):c.209A>C (p.Glu70Ala)
|
|
|
NM_000551.4(VHL):c.209A>G (p.Glu70Gly)
|
rs786202857
|
|
NM_000551.4(VHL):c.20A>C (p.Asn7Thr)
|
rs1575920892
|
|
NM_000551.4(VHL):c.20A>G (p.Asn7Ser)
|
rs1575920892
|
|
NM_000551.4(VHL):c.20A>T (p.Asn7Ile)
|
rs1575920892
|
|
NM_000551.4(VHL):c.210G>T (p.Glu70Asp)
|
rs1553619417
|
|
NM_000551.4(VHL):c.211C>T (p.Pro71Ser)
|
rs1696129801
|
|
NM_000551.4(VHL):c.213C>G (p.Pro71=)
|
rs201663073
|
|
NM_000551.4(VHL):c.214T>C (p.Ser72Pro)
|
rs869025618
|
|
NM_000551.4(VHL):c.215C>T (p.Ser72Phe)
|
rs962558566
|
|
NM_000551.4(VHL):c.217C>G (p.Gln73Glu)
|
rs869025619
|
|
NM_000551.4(VHL):c.217C>T (p.Gln73Ter)
|
rs869025619
|
|
NM_000551.4(VHL):c.218A>G (p.Gln73Arg)
|
rs1295818809
|
|
NM_000551.4(VHL):c.218A>T (p.Gln73Leu)
|
rs1295818809
|
|
NM_000551.4(VHL):c.219G>C (p.Gln73His)
|
rs1575921862
|
|
NM_000551.4(VHL):c.21C>G (p.Asn7Lys)
|
rs1060503561
|
|
NM_000551.4(VHL):c.21C>T (p.Asn7=)
|
rs1060503561
|
|
NM_000551.4(VHL):c.220G>C (p.Val74Leu)
|
rs2125125032
|
|
NM_000551.4(VHL):c.220G>T (p.Val74Phe)
|
|
|
NM_000551.4(VHL):c.221T>A (p.Val74Asp)
|
rs5030803
|
|
NM_000551.4(VHL):c.221T>C (p.Val74Ala)
|
rs5030803
|
|
NM_000551.4(VHL):c.222C>T (p.Val74=)
|
rs759737367
|
|
NM_000551.4(VHL):c.223A>C (p.Ile75Leu)
|
rs1060503554
|
|
NM_000551.4(VHL):c.223A>G (p.Ile75Val)
|
rs1060503554
|
|
NM_000551.4(VHL):c.224T>G (p.Ile75Ser)
|
rs1064794271
|
|
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del)
|
rs5030648
|
|
NM_000551.4(VHL):c.225C>G (p.Ile75Met)
|
rs768104793
|
|
NM_000551.4(VHL):c.226_227del (p.Phe76fs)
|
rs1060503552
|
|
NM_000551.4(VHL):c.227T>G (p.Phe76Cys)
|
rs730882033
|
|
NM_000551.4(VHL):c.228C>T (p.Phe76=)
|
rs1575921940
|
|
NM_000551.4(VHL):c.229T>C (p.Cys77Arg)
|
rs1269136170
|
|
NM_000551.4(VHL):c.22T>G (p.Trp8Gly)
|
rs1352171735
|
|
NM_000551.4(VHL):c.22_27dup (p.Trp8_Asp9dup)
|
rs1696114336
|
|
NM_000551.4(VHL):c.230G>A (p.Cys77Tyr)
|
|
|
NM_000551.4(VHL):c.230G>C (p.Cys77Ser)
|
rs1696131797
|
|
NM_000551.4(VHL):c.230G>T (p.Cys77Phe)
|
|
|
NM_000551.4(VHL):c.231C>A (p.Cys77Ter)
|
|
|
NM_000551.4(VHL):c.232A>G (p.Asn78Asp)
|
rs869025621
|
|
NM_000551.4(VHL):c.233A>C (p.Asn78Thr)
|
rs5030804
|
|
NM_000551.4(VHL):c.233A>G (p.Asn78Ser)
|
rs5030804
|
|
NM_000551.4(VHL):c.233A>T (p.Asn78Ile)
|
rs5030804
|
|
NM_000551.4(VHL):c.235C>A (p.Arg79Ser)
|
|
|
NM_000551.4(VHL):c.235C>G (p.Arg79Gly)
|
rs200885420
|
|
NM_000551.4(VHL):c.236G>T (p.Arg79Leu)
|
|
|
NM_000551.4(VHL):c.237C>G (p.Arg79=)
|
rs760899424
|
|
NM_000551.4(VHL):c.238A>G (p.Ser80Gly)
|
rs786202787
|
|
NM_000551.4(VHL):c.238_246del (p.Ser80_Arg82del)
|
rs1696132295
|
|
NM_000551.4(VHL):c.239G>A (p.Ser80Asn)
|
rs5030805
|
|
NM_000551.4(VHL):c.239G>T (p.Ser80Ile)
|
rs5030805
|
|
NM_000551.4(VHL):c.23G>A (p.Trp8Ter)
|
rs1060503551
|
|
NM_000551.4(VHL):c.23G>T (p.Trp8Leu)
|
rs1060503551
|
|
NM_000551.4(VHL):c.240T>C (p.Ser80=)
|
rs1553619424
|
|
NM_000551.4(VHL):c.241C>G (p.Pro81Ala)
|
rs104893829
|
|
NM_000551.4(VHL):c.241_244dup (p.Arg82fs)
|
rs2125125103
|
|
NM_000551.4(VHL):c.242C>A (p.Pro81Gln)
|
rs193922608
|
|
NM_000551.4(VHL):c.243G>C (p.Pro81=)
|
|
|
NM_000551.4(VHL):c.244C>G (p.Arg82Gly)
|
rs1214305423
|
|
NM_000551.4(VHL):c.244C>T (p.Arg82Cys)
|
rs1214305423
|
|
NM_000551.4(VHL):c.244_259dup (p.Val87fs)
|
rs2125125105
|
|
NM_000551.4(VHL):c.245G>A (p.Arg82His)
|
rs794726890
|
|
NM_000551.4(VHL):c.245G>T (p.Arg82Leu)
|
rs794726890
|
|
NM_000551.4(VHL):c.247G>A (p.Val83Ile)
|
|
|
NM_000551.4(VHL):c.250G>A (p.Val84Met)
|
rs5030827
|
|
NM_000551.4(VHL):c.250G>C (p.Val84Leu)
|
rs5030827
|
|
NM_000551.4(VHL):c.250G>T (p.Val84Leu)
|
rs5030827
|
|
NM_000551.4(VHL):c.251T>C (p.Val84Ala)
|
rs1264207864
|
|
NM_000551.4(VHL):c.252G>A (p.Val84=)
|
rs1436342215
|
|
NM_000551.4(VHL):c.253C>G (p.Leu85Val)
|
rs1422271977
|
|
NM_000551.4(VHL):c.254T>C (p.Leu85Pro)
|
rs5030828
|
|
NM_000551.4(VHL):c.255G>T (p.Leu85=)
|
rs876658508
|
|
NM_000551.4(VHL):c.256C>G (p.Pro86Ala)
|
rs398123481
|
|
NM_000551.4(VHL):c.256C>T (p.Pro86Ser)
|
rs398123481
|
|
NM_000551.4(VHL):c.257C>G (p.Pro86Arg)
|
rs730882034
|
|
NM_000551.4(VHL):c.257C>T (p.Pro86Leu)
|
rs730882034
|
|
NM_000551.4(VHL):c.258C>T (p.Pro86=)
|
rs781063331
|
|
NM_000551.4(VHL):c.258del (p.Val87fs)
|
rs864622545
|
|
NM_000551.4(VHL):c.259G>A (p.Val87Ile)
|
|
|
NM_000551.4(VHL):c.25G>C (p.Asp9His)
|
rs587780730
|
|
NM_000551.4(VHL):c.262T>A (p.Trp88Arg)
|
rs1553619431
|
|
NM_000551.4(VHL):c.262T>C (p.Trp88Arg)
|
rs1553619431
|
|
NM_000551.4(VHL):c.263G>A (p.Trp88Ter)
|
rs119103277
|
|
NM_000551.4(VHL):c.264G>A (p.Trp88Ter)
|
rs869025622
|
|
NM_000551.4(VHL):c.264G>C (p.Trp88Cys)
|
rs869025622
|
|
NM_000551.4(VHL):c.264G>T (p.Trp88Cys)
|
rs869025622
|
|
NM_000551.4(VHL):c.264_267dup (p.Asn90fs)
|
rs1696134947
|
|
NM_000551.4(VHL):c.265C>T (p.Leu89Phe)
|
rs1575922124
|
|
NM_000551.4(VHL):c.266T>C (p.Leu89Pro)
|
rs5030807
|
|
NM_000551.4(VHL):c.267C>G (p.Leu89=)
|
rs755794553
|
|
NM_000551.4(VHL):c.267C>T (p.Leu89=)
|
rs755794553
|
|
NM_000551.4(VHL):c.269A>C (p.Asn90Thr)
|
rs143985153
|
|
NM_000551.4(VHL):c.269A>G (p.Asn90Ser)
|
rs143985153
|
|
NM_000551.4(VHL):c.26A>C (p.Asp9Ala)
|
rs1060503560
|
|
NM_000551.4(VHL):c.26A>G (p.Asp9Gly)
|
rs1060503560
|
|
NM_000551.4(VHL):c.26A>T (p.Asp9Val)
|
|
|
NM_000551.4(VHL):c.270C>T (p.Asn90=)
|
|
|
NM_000551.4(VHL):c.273C>A (p.Phe91Leu)
|
rs1060503563
|
|
NM_000551.4(VHL):c.273C>T (p.Phe91=)
|
|
|
NM_000551.4(VHL):c.274G>A (p.Asp92Asn)
|
rs587780731
|
|
NM_000551.4(VHL):c.275A>C (p.Asp92Ala)
|
rs749091984
|
|
NM_000551.4(VHL):c.276C>G (p.Asp92Glu)
|
rs1442093467
|
|
NM_000551.4(VHL):c.276C>T (p.Asp92=)
|
rs1442093467
|
|
NM_000551.4(VHL):c.277G>A (p.Gly93Ser)
|
rs5030808
|
|
NM_000551.4(VHL):c.277G>C (p.Gly93Arg)
|
rs5030808
|
|
NM_000551.4(VHL):c.277_294del (p.Gly93_Tyr98del)
|
rs1559426059
|
|
NM_000551.4(VHL):c.278G>A (p.Gly93Asp)
|
rs1553619440
|
|
NM_000551.4(VHL):c.278_279delinsTT (p.Gly93Val)
|
rs1559426072
|
|
NM_000551.4(VHL):c.279C>T (p.Gly93=)
|
rs1696136079
|
|
NM_000551.4(VHL):c.27C>A (p.Asp9Glu)
|
rs1017141110
|
|
NM_000551.4(VHL):c.27C>G (p.Asp9Glu)
|
rs1017141110
|
|
NM_000551.4(VHL):c.27C>T (p.Asp9=)
|
rs1017141110
|
|
NM_000551.4(VHL):c.280G>A (p.Glu94Lys)
|
rs5030829
|
|
NM_000551.4(VHL):c.280G>T (p.Glu94Ter)
|
rs5030829
|
|
NM_000551.4(VHL):c.281A>T (p.Glu94Val)
|
|
|
NM_000551.4(VHL):c.282G>A (p.Glu94=)
|
|
|
NM_000551.4(VHL):c.282G>T (p.Glu94Asp)
|
|
|
NM_000551.4(VHL):c.283C>T (p.Pro95Ser)
|
rs1376530057
|
|
NM_000551.4(VHL):c.285G>A (p.Pro95=)
|
rs975432073
|
|
NM_000551.4(VHL):c.286_288delinsACC (p.Gln96Thr)
|
rs2125125241
|
|
NM_000551.4(VHL):c.288G>A (p.Gln96=)
|
rs1553619446
|
|
NM_000551.4(VHL):c.288G>T (p.Gln96His)
|
rs1553619446
|
|
NM_000551.4(VHL):c.289C>A (p.Pro97Thr)
|
rs863224688
|
|
NM_000551.4(VHL):c.28G>C (p.Glu10Gln)
|
rs1057519261
|
|
NM_000551.4(VHL):c.28G>T (p.Glu10Ter)
|
rs1057519261
|
|
NM_000551.4(VHL):c.290C>T (p.Pro97Leu)
|
rs2125125249
|
|
NM_000551.4(VHL):c.291C>T (p.Pro97=)
|
rs1805159
|
|
NM_000551.4(VHL):c.291_292delinsAC (p.Tyr98His)
|
|
|
NM_000551.4(VHL):c.291_302del (p.Tyr98_Leu101del)
|
rs1575922296
|
|
NM_000551.4(VHL):c.293A>C (p.Tyr98Ser)
|
rs864321643
|
|
NM_000551.4(VHL):c.293A>G (p.Tyr98Cys)
|
rs864321643
|
|
NM_000551.4(VHL):c.294C>T (p.Tyr98=)
|
rs1559426115
|
|
NM_000551.4(VHL):c.295C>A (p.Pro99Thr)
|
rs549807529
|
|
NM_000551.4(VHL):c.296C>G (p.Pro99Arg)
|
rs1553619452
|
|
NM_000551.4(VHL):c.297A>C (p.Pro99=)
|
rs774753107
|
|
NM_000551.4(VHL):c.298A>C (p.Thr100Pro)
|
rs745901803
|
|
NM_000551.4(VHL):c.298del (p.Thr100fs)
|
rs2125125269
|
|
NM_000551.4(VHL):c.299C>T (p.Thr100Met)
|
rs1346874866
|
|
NM_000551.4(VHL):c.29A>C (p.Glu10Ala)
|
|
|
NM_000551.4(VHL):c.29A>G (p.Glu10Gly)
|
rs786204065
|
|
NM_000551.4(VHL):c.29A>T (p.Glu10Val)
|
rs786204065
|
|
NM_000551.4(VHL):c.2T>A (p.Met1Lys)
|
|
|
NM_000551.4(VHL):c.300G>A (p.Thr100=)
|
rs915491008
|
|
NM_000551.4(VHL):c.300G>T (p.Thr100=)
|
rs915491008
|
|
NM_000551.4(VHL):c.302T>C (p.Leu101Pro)
|
rs1553619456
|
|
NM_000551.4(VHL):c.303G>A (p.Leu101=)
|
rs766583052
|
|
NM_000551.4(VHL):c.304C>T (p.Pro102Ser)
|
rs532018719
|
|
NM_000551.4(VHL):c.305C>A (p.Pro102Gln)
|
rs1379270197
|
|
NM_000551.4(VHL):c.305dup (p.Pro103fs)
|
|
|
NM_000551.4(VHL):c.306G>A (p.Pro102=)
|
|
|
NM_000551.4(VHL):c.306G>T (p.Pro102=)
|
rs550155859
|
|
NM_000551.4(VHL):c.307C>G (p.Pro103Ala)
|
rs864622267
|
|
NM_000551.4(VHL):c.307C>T (p.Pro103Ser)
|
|
|
NM_000551.4(VHL):c.308C>T (p.Pro103Leu)
|
rs2125125299
|
|
NM_000551.4(VHL):c.309T>C (p.Pro103=)
|
rs1262511541
|
|
NM_000551.4(VHL):c.30G>A (p.Glu10=)
|
rs963501454
|
|
NM_000551.4(VHL):c.30G>C (p.Glu10Asp)
|
rs963501454
|
|
NM_000551.4(VHL):c.30G>T (p.Glu10Asp)
|
rs963501454
|
|
NM_000551.4(VHL):c.310_311insC (p.Gly104fs)
|
|
|
NM_000551.4(VHL):c.311G>C (p.Gly104Ala)
|
rs869025630
|
|
NM_000551.4(VHL):c.313A>G (p.Thr105Ala)
|
|
|
NM_000551.4(VHL):c.314C>T (p.Thr105Met)
|
rs761240835
|
|
NM_000551.4(VHL):c.314dup (p.Arg107fs)
|
rs2125125325
|
|
NM_000551.4(VHL):c.315G>A (p.Thr105=)
|
rs769102979
|
|
NM_000551.4(VHL):c.315G>T (p.Thr105=)
|
rs769102979
|
|
NM_000551.4(VHL):c.318C>T (p.Gly106=)
|
|
|
NM_000551.4(VHL):c.319C>A (p.Arg107Ser)
|
|
|
NM_000551.4(VHL):c.319CGC[1] (p.Arg108del)
|
rs869191373
|
|
NM_000551.4(VHL):c.31G>T (p.Ala11Ser)
|
rs1236604706
|
|
NM_000551.4(VHL):c.320G>A (p.Arg107His)
|
rs193922609
|
|
NM_000551.4(VHL):c.320G>C (p.Arg107Pro)
|
rs193922609
|
|
NM_000551.4(VHL):c.323G>T (p.Arg108Leu)
|
|
|
NM_000551.4(VHL):c.324C>T (p.Arg108=)
|
rs878854124
|
|
NM_000551.4(VHL):c.327C>A (p.Ile109=)
|
rs863224371
|
|
NM_000551.4(VHL):c.327C>G (p.Ile109Met)
|
rs863224371
|
|
NM_000551.4(VHL):c.327C>T (p.Ile109=)
|
rs863224371
|
|
NM_000551.4(VHL):c.328C>A (p.His110Asn)
|
|
|
NM_000551.4(VHL):c.329A>G (p.His110Arg)
|
rs2125125380
|
|
NM_000551.4(VHL):c.329del (p.His110fs)
|
rs1559426199
|
|
NM_000551.4(VHL):c.329dup (p.His110fs)
|
|
|
NM_000551.4(VHL):c.330C>G (p.His110Gln)
|
rs1696140667
|
|
NM_000551.4(VHL):c.330C>T (p.His110=)
|
|
|
NM_000551.4(VHL):c.330_331delinsTT (p.Ser111Cys)
|
|
|
NM_000551.4(VHL):c.331A>G (p.Ser111Gly)
|
rs1559426203
|
|
NM_000551.4(VHL):c.331A>T (p.Ser111Cys)
|
rs1559426203
|
|
NM_000551.4(VHL):c.332G>A (p.Ser111Asn)
|
rs869025631
|
|
NM_000551.4(VHL):c.333C>G (p.Ser111Arg)
|
rs765978945
|
|
NM_000551.4(VHL):c.333C>T (p.Ser111=)
|
rs765978945
|
|
NM_000551.4(VHL):c.334T>C (p.Tyr112His)
|
rs104893824
|
|
NM_000551.4(VHL):c.335A>G (p.Tyr112Cys)
|
rs869025633
|
|
NM_000551.4(VHL):c.336C>G (p.Tyr112Ter)
|
rs751232153
|
|
NM_000551.4(VHL):c.337C>G (p.Arg113Gly)
|
rs5030810
|
|
NM_000551.4(VHL):c.337C>T (p.Arg113Ter)
|
rs5030810
|
|
NM_000551.4(VHL):c.339A>C (p.Arg113=)
|
|
|
NM_000551.4(VHL):c.339A>G (p.Arg113=)
|
rs2125125416
|
|
NM_000551.4(VHL):c.339_340+5del
|
rs1575922562
|
|
NM_000551.4(VHL):c.33C>G (p.Ala11=)
|
|
|
NM_000551.4(VHL):c.33C>T (p.Ala11=)
|
rs778674343
|
|
NM_000551.4(VHL):c.33_38dup (p.Val13_Gly14insGluVal)
|
|
|
NM_000551.4(VHL):c.340+10C>A
|
rs777622214
|
|
NM_000551.4(VHL):c.340+10C>G
|
|
|
NM_000551.4(VHL):c.340+10del
|
rs2125125434
|
|
NM_000551.4(VHL):c.340+11G>T
|
|
|
NM_000551.4(VHL):c.340+14G>C
|
|
|
NM_000551.4(VHL):c.340+15C>T
|
|
|
NM_000551.4(VHL):c.340+1G>A
|
rs730882032
|
|
NM_000551.4(VHL):c.340+1G>C
|
rs730882032
|
|
NM_000551.4(VHL):c.340+20G>T
|
rs757151154
|
|
NM_000551.4(VHL):c.340+2T>G
|
|
|
NM_000551.4(VHL):c.340+3A>G
|
rs1575922597
|
|
NM_000551.4(VHL):c.340+4C>G
|
|
|
NM_000551.4(VHL):c.340+4C>T
|
rs2125125426
|
|
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+5G>A
|
rs61758376
|
|
NM_000551.4(VHL):c.340+5_340+17dup
|
|
|
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+6G>A
|
rs1278726013
|
|
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+7G>C
|
rs869025635
|
|
NM_000551.4(VHL):c.340+7del
|
rs1575922613
|
|
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.340+8C>T
|
rs756068442
|
|
NM_000551.4(VHL):c.340+9C>T
|
rs1575922622
|
|
NM_000551.4(VHL):c.340G>A (p.Gly114Ser)
|
rs869025636
|
|
NM_000551.4(VHL):c.340G>C (p.Gly114Arg)
|
rs869025636
|
|
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.34_35delinsTT (p.Glu12Leu)
|
rs1696115662
|
|
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.35A>G (p.Glu12Gly)
|
rs1380706798
|
|
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.36G>C (p.Glu12Asp)
|
rs973493604
|
|
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.37G>C (p.Val13Leu)
|
rs919338576
|
|
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.38T>C (p.Val13Ala)
|
rs1553619289
|
|
NM_000551.4(VHL):c.38_52del (p.Val13_Glu17del)
|
rs2125124488
|
|
NM_000551.4(VHL):c.38_52dup (p.Val13_Glu17dup)
|
rs2125124488
|
|
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.39A>T (p.Val13=)
|
rs996469746
|
|
NM_000551.4(VHL):c.3G>A (p.Met1Ile)
|
rs578091032
|
|
NM_000551.4(VHL):c.3G>C (p.Met1Ile)
|
rs578091032
|
|
NM_000551.4(VHL):c.3G>T (p.Met1Ile)
|
rs578091032
|
|
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.40G>A (p.Gly14Ser)
|
rs1060503559
|
|
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.41G>A (p.Gly14Asp)
|
rs1575921044
|
|
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.42C>A (p.Gly14=)
|
|
|
NM_000551.4(VHL):c.42C>T (p.Gly14=)
|
rs1696116574
|
|
NM_000551.4(VHL):c.42_46del (p.Ala15fs)
|
rs1301210563
|
|
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.43G>A (p.Ala15Thr)
|
rs1060503568
|
|
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.44C>T (p.Ala15Val)
|
|
|
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.45G>A (p.Ala15=)
|
rs563813895
|
|
NM_000551.4(VHL):c.45G>C (p.Ala15=)
|
rs563813895
|
|
NM_000551.4(VHL):c.45G>T (p.Ala15=)
|
|
|
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.46G>T (p.Glu16Ter)
|
rs1060503556
|
|
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.47A>C (p.Glu16Ala)
|
rs864622379
|
|
NM_000551.4(VHL):c.47A>T (p.Glu16Val)
|
rs864622379
|
|
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.48G>C (p.Glu16Asp)
|
rs1057522140
|
|
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.49G>A (p.Glu17Lys)
|
rs1028898216
|
|
NM_000551.4(VHL):c.49G>T (p.Glu17Ter)
|
rs1028898216
|
|
NM_000551.4(VHL):c.4C>A (p.Pro2Thr)
|
|
|
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.51G>T (p.Glu17Asp)
|
rs2125124538
|
|
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.52del (p.Ala18fs)
|
rs1696117244
|
|
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.53C>T (p.Ala18Val)
|
rs1553619302
|
|
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.55G>C (p.Gly19Arg)
|
rs1382387188
|
|
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.56G>T (p.Gly19Val)
|
rs2125124549
|
|
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.57C>A (p.Gly19=)
|
rs1453582828
|
|
NM_000551.4(VHL):c.57C>T (p.Gly19=)
|
|
|
NM_000551.4(VHL):c.57del (p.Val20fs)
|
rs1553619308
|
|
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.58G>C (p.Val20Leu)
|
|
|
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.59T>A (p.Val20Asp)
|
rs929332564
|
|
NM_000551.4(VHL):c.59T>C (p.Val20Ala)
|
rs929332564
|
|
NM_000551.4(VHL):c.5C>A (p.Pro2His)
|
|
|
NM_000551.4(VHL):c.5C>G (p.Pro2Arg)
|
rs111246617
|
|
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.60C>G (p.Val20=)
|
rs1553619311
|
|
NM_000551.4(VHL):c.60C>T (p.Val20=)
|
|
|
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.61G>A (p.Glu21Lys)
|
rs2125124562
|
|
NM_000551.4(VHL):c.61G>C (p.Glu21Gln)
|
|
|
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.62A>C (p.Glu21Ala)
|
rs1060503548
|
|
NM_000551.4(VHL):c.62A>T (p.Glu21Val)
|
rs1060503548
|
|
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.63A>G (p.Glu21=)
|
rs1696117984
|
|
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
|
|
NM_000551.4(VHL):c.64G>A (p.Glu22Lys)
|
rs1696118115
|
|
NM_000551.4(VHL):c.65A>G (p.Glu22Gly)
|
rs2125124570
|
|
NM_000551.4(VHL):c.66G>A (p.Glu22=)
|
rs768452685
|
|
NM_000551.4(VHL):c.67T>A (p.Tyr23Asn)
|
|
|
NM_000551.4(VHL):c.67T>C (p.Tyr23His)
|
rs1696118253
|
|
NM_000551.4(VHL):c.67T>G (p.Tyr23Asp)
|
rs1696118253
|
|
NM_000551.4(VHL):c.68A>G (p.Tyr23Cys)
|
|
|
NM_000551.4(VHL):c.69C>A (p.Tyr23Ter)
|
rs1553619313
|
|
NM_000551.4(VHL):c.69C>T (p.Tyr23=)
|
rs1553619313
|
|
NM_000551.4(VHL):c.6C>G (p.Pro2=)
|
rs1014417508
|
|
NM_000551.4(VHL):c.6C>T (p.Pro2=)
|
rs1014417508
|
|
NM_000551.4(VHL):c.70G>A (p.Gly24Ser)
|
rs1438223626
|
|
NM_000551.4(VHL):c.70G>C (p.Gly24Arg)
|
rs1438223626
|
|
NM_000551.4(VHL):c.70G>T (p.Gly24Cys)
|
rs1438223626
|
|
NM_000551.4(VHL):c.71G>T (p.Gly24Val)
|
rs878854129
|
|
NM_000551.4(VHL):c.72C>A (p.Gly24=)
|
rs1375079282
|
|
NM_000551.4(VHL):c.72C>T (p.Gly24=)
|
|
|
NM_000551.4(VHL):c.75T>C (p.Pro25=)
|
rs1553619317
|
|
NM_000551.4(VHL):c.75_119del (p.Asp28_Glu42del)
|
|
|
NM_000551.4(VHL):c.76G>C (p.Glu26Gln)
|
|
|
NM_000551.4(VHL):c.77A>G (p.Glu26Gly)
|
|
|
NM_000551.4(VHL):c.7C>G (p.Arg3Gly)
|
rs878854130
|
|
NM_000551.4(VHL):c.80A>G (p.Glu27Gly)
|
rs2125124617
|
|
NM_000551.4(VHL):c.81A>C (p.Glu27Asp)
|
|
|
NM_000551.4(VHL):c.82G>A (p.Asp28Asn)
|
rs1553619319
|
|
NM_000551.4(VHL):c.82G>C (p.Asp28His)
|
rs1553619319
|
|
NM_000551.4(VHL):c.83A>T (p.Asp28Val)
|
rs2125124629
|
|
NM_000551.4(VHL):c.83_100dup (p.Asp28_Ser33dup)
|
rs1057517592
|
|
NM_000551.4(VHL):c.85G>A (p.Gly29Ser)
|
|
|
NM_000551.4(VHL):c.85G>C (p.Gly29Arg)
|
rs1277221408
|
|
NM_000551.4(VHL):c.85G>T (p.Gly29Cys)
|
|
|
NM_000551.4(VHL):c.86G>C (p.Gly29Ala)
|
rs1553619321
|
|
NM_000551.4(VHL):c.86_87delinsTT (p.Gly29Val)
|
rs879254115
|
|
NM_000551.4(VHL):c.87C>A (p.Gly29=)
|
|
|
NM_000551.4(VHL):c.87C>T (p.Gly29=)
|
rs987301475
|
|
NM_000551.4(VHL):c.88G>C (p.Gly30Arg)
|
rs913104799
|
|
NM_000551.4(VHL):c.88G>T (p.Gly30Trp)
|
rs913104799
|
|
NM_000551.4(VHL):c.89G>C (p.Gly30Ala)
|
rs1064793290
|
|
NM_000551.4(VHL):c.8G>A (p.Arg3Gln)
|
rs1178481595
|
|
NM_000551.4(VHL):c.91G>T (p.Glu31Ter)
|
rs1214275235
|
|
NM_000551.4(VHL):c.92A>G (p.Glu31Gly)
|
|
|
NM_000551.4(VHL):c.93G>A (p.Glu31=)
|
rs1438911242
|
|
NM_000551.4(VHL):c.93_122dup (p.Ala35_Gly44dup)
|
rs1696119887
|
|
NM_000551.4(VHL):c.94G>A (p.Glu32Lys)
|
|
|
NM_000551.4(VHL):c.97T>A (p.Ser33Thr)
|
rs868726923
|
|
NM_000551.4(VHL):c.97T>G (p.Ser33Ala)
|
|
|
NM_000551.4(VHL):c.97del (p.Ser33fs)
|
rs2125124691
|
|
NM_000551.4(VHL):c.99G>T (p.Ser33=)
|
|
|
NM_000551.4(VHL):c.99_113dup (p.Ala35_Gly39dup)
|
rs1236159514
|
|
NM_000551.4(VHL):c.9G>C (p.Arg3=)
|
|
|
NM_000551.4(VHL):c.9G>T (p.Arg3=)
|
rs1696113334
|
|
NM_000551.4(VHL):c.9_10insGCGG (p.Arg4fs)
|
rs1559425474
|
|