NM_000551.3(VHL):c.-195G>A
|
rs779805
|
0.56161
|
NM_000551.3(VHL):c.-77C>T
|
rs3087462
|
0.02828
|
NM_000551.4(VHL):c.74C>T (p.Pro25Leu)
|
rs35460768
|
0.00261
|
NM_000551.4(VHL):c.340+5G>C
|
rs61758376
|
0.00190
|
NM_000551.4(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.241C>T (p.Pro81Ser)
|
rs104893829
|
0.00039
|
NM_000551.3(VHL):c.-73C>T
|
rs1034934219
|
0.00031
|
NM_000551.3(VHL):c.-188G>A
|
rs966586600
|
0.00020
|
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.25G>A (p.Asp9Asn)
|
rs587780730
|
0.00008
|
NM_000551.4(VHL):c.5C>T (p.Pro2Leu)
|
rs111246617
|
0.00008
|
NM_000551.4(VHL):c.135G>A (p.Pro45=)
|
rs773519476
|
0.00007
|
NM_000551.3(VHL):c.-207C>T
|
rs886057698
|
0.00006
|
NM_000551.4(VHL):c.28G>A (p.Glu10Lys)
|
rs1057519261
|
0.00006
|
NM_000551.4(VHL):c.89G>A (p.Gly30Glu)
|
rs1064793290
|
0.00006
|
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.114C>T (p.Ser38=)
|
rs417164
|
0.00002
|
NM_000551.4(VHL):c.14C>T (p.Ala5Val)
|
rs755333116
|
0.00002
|
NM_000551.3(VHL):c.-179G>A
|
rs1466966053
|
0.00001
|
NM_000551.4(VHL):c.-35G>A
|
rs587780992
|
0.00001
|
NM_000551.4(VHL):c.105C>G (p.Ala35=)
|
rs1310829877
|
0.00001
|
NM_000551.4(VHL):c.10A>T (p.Arg4Trp)
|
rs886057702
|
0.00001
|
NM_000551.4(VHL):c.172C>T (p.Arg58Trp)
|
rs757781272
|
0.00001
|
NM_000551.4(VHL):c.1A>T (p.Met1Leu)
|
rs1060503557
|
0.00001
|
NM_000551.4(VHL):c.216C>T (p.Ser72=)
|
rs774557051
|
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.258C>G (p.Pro86=)
|
rs781063331
|
0.00001
|
NM_000551.4(VHL):c.275A>T (p.Asp92Val)
|
rs749091984
|
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.71G>A (p.Gly24Asp)
|
rs878854129
|
0.00001
|
NM_000551.4(VHL):c.99G>C (p.Ser33=)
|
rs912159589
|
0.00001
|
NC_000003.11:g.10169230_10194915del
|
|
|
NC_000003.11:g.10170715_10188894del
|
|
|
NC_000003.11:g.10175778_10190168del
|
|
|
NC_000003.11:g.10175844_10187969del
|
|
|
NC_000003.11:g.10179846_10190051del
|
|
|
NC_000003.11:g.10180085_10190286del
|
|
|
NC_000003.11:g.10188894_10200033del
|
|
|
NC_000003.11:g.10189293_10201409del
|
|
|
NC_000003.11:g.10189323_10202010del
|
|
|
NC_000003.12:g.10140148_10140759del
|
rs1696067154
|
|
NM_000551.3(VHL):c.-118C>T
|
rs1696106670
|
|
NM_000551.3(VHL):c.-125C>A
|
rs886057700
|
|
NM_000551.3(VHL):c.-166C>T
|
rs886057699
|
|
NM_000551.3(VHL):c.-75_-55del
|
rs727503744
|
|
NM_000551.3(VHL):c.-77_-32del
|
rs1553619239
|
|
NM_000551.4(VHL):c.-26C>T
|
rs775446934
|
|
NM_000551.4(VHL):c.-30C>T
|
rs886057701
|
|
NM_000551.4(VHL):c.104C>A (p.Ala35Asp)
|
rs587780536
|
|
NM_000551.4(VHL):c.11G>T (p.Arg4Met)
|
rs886057703
|
|
NM_000551.4(VHL):c.123_137del (p.38SGPEE[1])
|
rs863224839
|
|
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.163dup (p.Glu55fs)
|
rs869025615
|
|
NM_000551.4(VHL):c.164_171dup (p.Arg60fs)
|
rs886041345
|
|
NM_000551.4(VHL):c.170_177del (p.Gly57fs)
|
|
|
NM_000551.4(VHL):c.181C>T (p.Pro61Ser)
|
rs113612866
|
|
NM_000551.4(VHL):c.188T>A (p.Leu63Gln)
|
rs104893827
|
|
NM_000551.4(VHL):c.189_192del (p.Arg64_Ser65insTer)
|
rs869025647
|
|
NM_000551.4(VHL):c.189dup (p.Arg64fs)
|
rs1553619402
|
|
NM_000551.4(VHL):c.191G>C (p.Arg64Pro)
|
rs104893826
|
|
NM_000551.4(VHL):c.192del (p.Ser65fs)
|
rs730882031
|
|
NM_000551.4(VHL):c.193T>C (p.Ser65Pro)
|
rs869025616
|
|
NM_000551.4(VHL):c.193T>G (p.Ser65Ala)
|
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.1A>G (p.Met1Val)
|
rs1060503557
|
|
NM_000551.4(VHL):c.201C>A (p.Asn67Lys)
|
rs769658318
|
|
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.206dup (p.Glu70fs)
|
rs1553619415
|
|
NM_000551.4(VHL):c.208G>A (p.Glu70Lys)
|
rs5030802
|
|
NM_000551.4(VHL):c.208G>T (p.Glu70Ter)
|
rs5030802
|
|
NM_000551.4(VHL):c.213del (p.Ser72fs)
|
|
|
NM_000551.4(VHL):c.214T>C (p.Ser72Pro)
|
rs869025618
|
|
NM_000551.4(VHL):c.217C>T (p.Gln73Ter)
|
rs869025619
|
|
NM_000551.4(VHL):c.221T>A (p.Val74Asp)
|
rs5030803
|
|
NM_000551.4(VHL):c.221del (p.Val74fs)
|
rs869025620
|
|
NM_000551.4(VHL):c.222_225dup (p.Phe76fs)
|
|
|
NM_000551.4(VHL):c.223_225del (p.Ile75del)
|
rs794729660
|
|
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.227T>A (p.Phe76Tyr)
|
rs730882033
|
|
NM_000551.4(VHL):c.227T>C (p.Phe76Ser)
|
rs730882033
|
|
NM_000551.4(VHL):c.232A>C (p.Asn78His)
|
rs869025621
|
|
NM_000551.4(VHL):c.232A>G (p.Asn78Asp)
|
rs869025621
|
|
NM_000551.4(VHL):c.232A>T (p.Asn78Tyr)
|
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.233del (p.Asn78fs)
|
rs1559425925
|
|
NM_000551.4(VHL):c.238A>C (p.Ser80Arg)
|
rs786202787
|
|
NM_000551.4(VHL):c.238A>G (p.Ser80Gly)
|
rs786202787
|
|
NM_000551.4(VHL):c.239G>T (p.Ser80Ile)
|
rs5030805
|
|
NM_000551.4(VHL):c.239_261del (p.Ser80fs)
|
rs1559425951
|
|
NM_000551.4(VHL):c.244C>G (p.Arg82Gly)
|
rs1214305423
|
|
NM_000551.4(VHL):c.245G>C (p.Arg82Pro)
|
rs794726890
|
|
NM_000551.4(VHL):c.245G>T (p.Arg82Leu)
|
rs794726890
|
|
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.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.258del (p.Val87fs)
|
rs864622545
|
|
NM_000551.4(VHL):c.258dup (p.Val87fs)
|
rs864622545
|
|
NM_000551.4(VHL):c.259_260del (p.Val87fs)
|
|
|
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.263G>C (p.Trp88Ser)
|
rs119103277
|
|
NM_000551.4(VHL):c.264G>T (p.Trp88Cys)
|
rs869025622
|
|
NM_000551.4(VHL):c.266T>C (p.Leu89Pro)
|
rs5030807
|
|
NM_000551.4(VHL):c.269A>T (p.Asn90Ile)
|
rs143985153
|
|
NM_000551.4(VHL):c.269del (p.Asn90fs)
|
rs869025623
|
|
NM_000551.4(VHL):c.271T>G (p.Phe91Val)
|
rs1559426039
|
|
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.277G>T (p.Gly93Cys)
|
rs5030808
|
|
NM_000551.4(VHL):c.278G>A (p.Gly93Asp)
|
rs1553619440
|
|
NM_000551.4(VHL):c.278G>T (p.Gly93Val)
|
rs1553619440
|
|
NM_000551.4(VHL):c.278del (p.Gly93fs)
|
rs1131690964
|
|
NM_000551.4(VHL):c.280G>T (p.Glu94Ter)
|
rs5030829
|
|
NM_000551.4(VHL):c.284C>G (p.Pro95Arg)
|
rs964996401
|
|
NM_000551.4(VHL):c.287A>C (p.Gln96Pro)
|
rs1559426089
|
|
NM_000551.4(VHL):c.28G>T (p.Glu10Ter)
|
rs1057519261
|
|
NM_000551.4(VHL):c.292T>A (p.Tyr98Asn)
|
|
|
NM_000551.4(VHL):c.292_295del (p.Tyr98fs)
|
rs1559426095
|
|
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.293dup (p.Tyr98Ter)
|
rs869025624
|
|
NM_000551.4(VHL):c.294C>G (p.Tyr98Ter)
|
rs1559426115
|
|
NM_000551.4(VHL):c.296dup (p.Thr100fs)
|
rs869025625
|
|
NM_000551.4(VHL):c.300dup (p.Leu101fs)
|
rs869025626
|
|
NM_000551.4(VHL):c.302T>G (p.Leu101Arg)
|
|
|
NM_000551.4(VHL):c.304_305dup (p.Pro103fs)
|
rs1559426145
|
|
NM_000551.4(VHL):c.309del (p.Gly104fs)
|
rs869025627
|
|
NM_000551.4(VHL):c.309dup (p.Gly104fs)
|
rs869025628
|
|
NM_000551.4(VHL):c.311G>T (p.Gly104Val)
|
rs869025630
|
|
NM_000551.4(VHL):c.311_340+20del
|
rs869025629
|
|
NM_000551.4(VHL):c.313A>C (p.Thr105Pro)
|
rs1553619461
|
|
NM_000551.4(VHL):c.319C>G (p.Arg107Gly)
|
rs397516440
|
|
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.321C>T (p.Arg107=)
|
rs864622334
|
|
NM_000551.4(VHL):c.326T>A (p.Ile109Asn)
|
rs398123482
|
|
NM_000551.4(VHL):c.331A>C (p.Ser111Arg)
|
|
|
NM_000551.4(VHL):c.331A>G (p.Ser111Gly)
|
rs1559426203
|
|
NM_000551.4(VHL):c.332G>A (p.Ser111Asn)
|
rs869025631
|
|
NM_000551.4(VHL):c.332G>T (p.Ser111Ile)
|
rs869025631
|
|
NM_000551.4(VHL):c.333C>G (p.Ser111Arg)
|
rs765978945
|
|
NM_000551.4(VHL):c.334T>A (p.Tyr112Asn)
|
rs104893824
|
|
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.335_340+5del
|
rs869025632
|
|
NM_000551.4(VHL):c.336C>G (p.Tyr112Ter)
|
rs751232153
|
|
NM_000551.4(VHL):c.337C>T (p.Arg113Ter)
|
rs5030810
|
|
NM_000551.4(VHL):c.340+1G>A
|
rs730882032
|
|
NM_000551.4(VHL):c.340+1G>C
|
rs730882032
|
|
NM_000551.4(VHL):c.340+2_340+6del
|
rs869025634
|
|
NM_000551.4(VHL):c.340+7G>C
|
rs869025635
|
|
NM_000551.4(VHL):c.340+8C>T
|
rs756068442
|
|
NM_000551.4(VHL):c.340G>C (p.Gly114Arg)
|
rs869025636
|
|
NM_000551.4(VHL):c.3G>A (p.Met1Ile)
|
rs578091032
|
|
NM_000551.4(VHL):c.3G>T (p.Met1Ile)
|
rs578091032
|
|
NM_000551.4(VHL):c.47A>C (p.Glu16Ala)
|
rs864622379
|
|
NM_000551.4(VHL):c.69C>A (p.Tyr23Ter)
|
rs1553619313
|
|
NM_000551.4(VHL):c.83_100dup (p.Asp28_Ser33dup)
|
rs1057517592
|
|
NM_000551.4(VHL):c.91G>T (p.Glu31Ter)
|
rs1214275235
|
|
p.X214Trp
|
|
|