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.-26C>G
|
rs775446934
|
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.-47C>T
|
rs745439844
|
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.-38C>T
|
rs933174704
|
0.00004
|
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.340+8C>A
|
rs756068442
|
0.00003
|
NM_000551.4(VHL):c.-36C>G
|
rs1349047110
|
0.00002
|
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.301C>T (p.Leu101=)
|
rs772300829
|
0.00002
|
NM_000551.4(VHL):c.315G>C (p.Thr105=)
|
rs769102979
|
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.7C>T (p.Arg3Trp)
|
rs878854130
|
0.00002
|
NM_000551.4(VHL):c.-12_2dup (p.Met1fs)
|
rs886041253
|
0.00001
|
NM_000551.4(VHL):c.-15T>C
|
rs776768994
|
0.00001
|
NM_000551.4(VHL):c.-25C>A
|
rs1340337531
|
0.00001
|
NM_000551.4(VHL):c.-29C>A
|
rs558788270
|
0.00001
|
NM_000551.4(VHL):c.-35G>A
|
rs587780992
|
0.00001
|
NM_000551.4(VHL):c.-40C>T
|
rs1052005754
|
0.00001
|
NM_000551.4(VHL):c.-44G>T
|
rs929301467
|
0.00001
|
NM_000551.4(VHL):c.105C>G (p.Ala35=)
|
rs1310829877
|
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.225C>T (p.Ile75=)
|
rs768104793
|
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.285G>T (p.Pro95=)
|
rs975432073
|
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.34G>C (p.Glu12Gln)
|
rs1064794788
|
0.00001
|
NM_000551.4(VHL):c.48G>A (p.Glu16=)
|
rs1057522140
|
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.-10C>T
|
rs1192379474
|
|
NM_000551.4(VHL):c.-11_10dup (p.Arg3_Arg4insIleAlaGluGlyMetProArg)
|
|
|
NM_000551.4(VHL):c.-13G>T
|
rs1057522448
|
|
NM_000551.4(VHL):c.-15_4delinsCGGCCCGGGTGGTCTGGTCTCCG (p.Met1fs)
|
rs2125124326
|
|
NM_000551.4(VHL):c.-16C>T
|
rs893572737
|
|
NM_000551.4(VHL):c.-1A>G
|
|
|
NM_000551.4(VHL):c.-36C>T
|
rs1349047110
|
|
NM_000551.4(VHL):c.-45C>A
|
rs372483939
|
|
NM_000551.4(VHL):c.-47C>G
|
rs745439844
|
|
NM_000551.4(VHL):c.-48C>G
|
rs973379327
|
|
NM_000551.4(VHL):c.-54_-35dup
|
rs730882036
|
|
NM_000551.4(VHL):c.-61_-51dup
|
rs727503743
|
|
NM_000551.4(VHL):c.-9_5dup (p.Ala5fs)
|
rs730882038
|
|
NM_000551.4(VHL):c.104C>A (p.Ala35Asp)
|
rs587780536
|
|
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.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.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.168C>G (p.Ala56=)
|
rs864622714
|
|
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.180del (p.Val62fs)
|
rs730882037
|
|
NM_000551.4(VHL):c.183C>T (p.Pro61=)
|
rs63650860
|
|
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.192del (p.Ser65fs)
|
rs730882031
|
|
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.209A>G (p.Glu70Gly)
|
rs786202857
|
|
NM_000551.4(VHL):c.212C>T (p.Pro71Leu)
|
rs2125125002
|
|
NM_000551.4(VHL):c.213C>G (p.Pro71=)
|
rs201663073
|
|
NM_000551.4(VHL):c.218A>G (p.Gln73Arg)
|
rs1295818809
|
|
NM_000551.4(VHL):c.219_220del (p.Gln73fs)
|
rs730882039
|
|
NM_000551.4(VHL):c.21C>T (p.Asn7=)
|
rs1060503561
|
|
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.232A>G (p.Asn78Asp)
|
rs869025621
|
|
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.251T>C (p.Val84Ala)
|
rs1264207864
|
|
NM_000551.4(VHL):c.256C>T (p.Pro86Ser)
|
rs398123481
|
|
NM_000551.4(VHL):c.263G>A (p.Trp88Ter)
|
rs119103277
|
|
NM_000551.4(VHL):c.27C>A (p.Asp9Glu)
|
rs1017141110
|
|
NM_000551.4(VHL):c.313A>G (p.Thr105Ala)
|
|
|
NM_000551.4(VHL):c.315G>A (p.Thr105=)
|
rs769102979
|
|
NM_000551.4(VHL):c.320G>C (p.Arg107Pro)
|
rs193922609
|
|
NM_000551.4(VHL):c.340+14G>T
|
rs1057523480
|
|
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.66G>A (p.Glu22=)
|
rs768452685
|
|
NM_000551.4(VHL):c.6C>T (p.Pro2=)
|
rs1014417508
|
|
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
|
|