NM_000551.3(VHL):c.-195G>A
|
rs779805
|
0.56161
|
NC_000003.12:g.10141318G>C
|
rs10433558
|
0.22581
|
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_000551.3(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.241C>T (p.Pro81Ser)
|
rs104893829
|
0.00039
|
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.-23G>C
|
rs760414295
|
0.00007
|
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.28G>A (p.Glu10Lys)
|
rs1057519261
|
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.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.22T>C (p.Trp8Arg)
|
rs1352171735
|
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.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.7C>T (p.Arg3Trp)
|
rs878854130
|
0.00002
|
NM_000551.4(VHL):c.-12_2dup (p.Met1fs)
|
rs886041253
|
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.109G>A (p.Glu37Lys)
|
rs1338996432
|
0.00001
|
NM_000551.4(VHL):c.111G>C (p.Glu37Asp)
|
rs1398333169
|
0.00001
|
NM_000551.4(VHL):c.134C>G (p.Pro45Arg)
|
rs199583685
|
0.00001
|
NM_000551.4(VHL):c.172C>T (p.Arg58Trp)
|
rs757781272
|
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.21C>A (p.Asn7Lys)
|
rs1060503561
|
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.258C>G (p.Pro86=)
|
rs781063331
|
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.292T>C (p.Tyr98His)
|
rs5030809
|
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.340+2T>C
|
rs1407805768
|
0.00001
|
NM_000551.4(VHL):c.34G>C (p.Glu12Gln)
|
rs1064794788
|
0.00001
|
NM_000551.4(VHL):c.46G>C (p.Glu16Gln)
|
rs1060503556
|
0.00001
|
NM_000551.4(VHL):c.4C>T (p.Pro2Ser)
|
rs1034974221
|
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.95A>G (p.Glu32Gly)
|
rs786203104
|
0.00001
|
NC_000003.12:g.10141556_10141557insAAA
|
rs1696098774
|
|
NC_000003.12:g.10141569_10141571dup
|
rs36068404
|
|
NC_000003.12:g.10141570_10141571dup
|
rs36068404
|
|
NC_000003.12:g.10141590C>T
|
rs779804
|
|
NM_000551.4(VHL):c.-11_10dup (p.Arg3_Arg4insIleAlaGluGlyMetProArg)
|
|
|
NM_000551.4(VHL):c.-15_4delinsCGGCCCGGGTGGTCTGGTCTCCG (p.Met1fs)
|
rs2125124326
|
|
NM_000551.4(VHL):c.-1A>G
|
|
|
NM_000551.4(VHL):c.-45C>A
|
rs372483939
|
|
NM_000551.4(VHL):c.-61_-51dup
|
rs727503743
|
|
NM_000551.4(VHL):c.-62_-43del
|
|
|
NM_000551.4(VHL):c.-9_5dup (p.Ala5fs)
|
rs730882038
|
|
NM_000551.4(VHL):c.103G>A (p.Ala35Thr)
|
rs1405360663
|
|
NM_000551.4(VHL):c.104C>A (p.Ala35Asp)
|
rs587780536
|
|
NM_000551.4(VHL):c.109G>T (p.Glu37Ter)
|
rs1338996432
|
|
NM_000551.4(VHL):c.116G>T (p.Gly39Val)
|
rs368473853
|
|
NM_000551.4(VHL):c.119C>G (p.Pro40Arg)
|
rs200343185
|
|
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.125A>C (p.Glu42Ala)
|
rs1064796244
|
|
NM_000551.4(VHL):c.127T>C (p.Ser43Pro)
|
rs1696123001
|
|
NM_000551.4(VHL):c.134C>T (p.Pro45Leu)
|
rs199583685
|
|
NM_000551.4(VHL):c.13_31dup (p.Ala11fs)
|
rs1455562175
|
|
NM_000551.4(VHL):c.149C>T (p.Ala50Val)
|
rs766576246
|
|
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.164_171dup (p.Arg60fs)
|
rs886041345
|
|
NM_000551.4(VHL):c.166G>A (p.Ala56Thr)
|
|
|
NM_000551.4(VHL):c.169G>C (p.Gly57Arg)
|
rs1064795194
|
|
NM_000551.4(VHL):c.16_34dup (p.Glu12fs)
|
rs1553619276
|
|
NM_000551.4(VHL):c.179_192del (p.Arg60fs)
|
rs1064796408
|
|
NM_000551.4(VHL):c.188T>C (p.Leu63Pro)
|
rs104893827
|
|
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.194C>A (p.Ser65Ter)
|
rs5030826
|
|
NM_000551.4(VHL):c.194C>G (p.Ser65Trp)
|
rs5030826
|
|
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.208G>T (p.Glu70Ter)
|
rs5030802
|
|
NM_000551.4(VHL):c.209A>G (p.Glu70Gly)
|
rs786202857
|
|
NM_000551.4(VHL):c.212C>T (p.Pro71Leu)
|
rs2125125002
|
|
NM_000551.4(VHL):c.216C>A (p.Ser72=)
|
rs774557051
|
|
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.221T>C (p.Val74Ala)
|
rs5030803
|
|
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>G (p.Phe76Cys)
|
rs730882033
|
|
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.242C>A (p.Pro81Gln)
|
rs193922608
|
|
NM_000551.4(VHL):c.245G>C (p.Arg82Pro)
|
rs794726890
|
|
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.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.262T>A (p.Trp88Arg)
|
rs1553619431
|
|
NM_000551.4(VHL):c.263G>A (p.Trp88Ter)
|
rs119103277
|
|
NM_000551.4(VHL):c.269A>G (p.Asn90Ser)
|
rs143985153
|
|
NM_000551.4(VHL):c.273del (p.Phe91fs)
|
rs1559426047
|
|
NM_000551.4(VHL):c.27C>A (p.Asp9Glu)
|
rs1017141110
|
|
NM_000551.4(VHL):c.293A>G (p.Tyr98Cys)
|
rs864321643
|
|
NM_000551.4(VHL):c.311G>T (p.Gly104Val)
|
rs869025630
|
|
NM_000551.4(VHL):c.313A>G (p.Thr105Ala)
|
|
|
NM_000551.4(VHL):c.320G>C (p.Arg107Pro)
|
rs193922609
|
|
NM_000551.4(VHL):c.325A>G (p.Ile109Val)
|
|
|
NM_000551.4(VHL):c.326T>A (p.Ile109Asn)
|
rs398123482
|
|
NM_000551.4(VHL):c.329del (p.His110fs)
|
rs1559426199
|
|
NM_000551.4(VHL):c.335A>G (p.Tyr112Cys)
|
rs869025633
|
|
NM_000551.4(VHL):c.340+1G>A
|
rs730882032
|
|
NM_000551.4(VHL):c.340+1G>C
|
rs730882032
|
|
NM_000551.4(VHL):c.340+3A>G
|
rs1575922597
|
|
NM_000551.4(VHL):c.34_35delinsTT (p.Glu12Leu)
|
rs1696115662
|
|
NM_000551.4(VHL):c.36G>C (p.Glu12Asp)
|
rs973493604
|
|
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.40G>A (p.Gly14Ser)
|
rs1060503559
|
|
NM_000551.4(VHL):c.49G>T (p.Glu17Ter)
|
rs1028898216
|
|
NM_000551.4(VHL):c.51G>T (p.Glu17Asp)
|
rs2125124538
|
|
NM_000551.4(VHL):c.53C>T (p.Ala18Val)
|
rs1553619302
|
|
NM_000551.4(VHL):c.62A>C (p.Glu21Ala)
|
rs1060503548
|
|
NM_000551.4(VHL):c.6C>T (p.Pro2=)
|
rs1014417508
|
|
NM_000551.4(VHL):c.72C>A (p.Gly24=)
|
rs1375079282
|
|
NM_000551.4(VHL):c.86_87delinsTT (p.Gly29Val)
|
rs879254115
|
|
NM_000551.4(VHL):c.87C>T (p.Gly29=)
|
rs987301475
|
|
NM_000551.4(VHL):c.91del (p.Glu31fs)
|
|
|
NM_000551.4(VHL):c.97del (p.Ser33fs)
|
rs2125124691
|
|
NM_000551.4(VHL):c.99_113dup (p.Ala35_Gly39dup)
|
rs1236159514
|
|