NM_000551.3(VHL):c.-195G>A
|
rs779805
|
0.56161
|
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.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.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.274G>T (p.Asp92Tyr)
|
rs587780731
|
0.00003
|
NM_000551.4(VHL):c.340+20G>A
|
rs757151154
|
0.00003
|
NM_000551.4(VHL):c.340+8C>A
|
rs756068442
|
0.00003
|
NM_000551.4(VHL):c.54A>C (p.Ala18=)
|
rs1305687580
|
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.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.34G>C (p.Glu12Gln)
|
rs1064794788
|
0.00001
|
NM_000551.4(VHL):c.37G>A (p.Val13Ile)
|
rs919338576
|
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.40G>C (p.Gly14Arg)
|
rs1060503559
|
0.00001
|
NM_000551.4(VHL):c.46G>C (p.Glu16Gln)
|
rs1060503556
|
0.00001
|
NM_000551.4(VHL):c.48G>A (p.Glu16=)
|
rs1057522140
|
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.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.(?_10183522)_(10188330_?)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.(?_10191461)_(10191719_?)dup
|
|
|
NC_000003.12:g.(?_10141635)_(10142187_?)del
|
|
|
NC_000003.12:g.(?_10141828)_(10146656_?)del
|
|
|
NC_000003.12:g.(?_10141838)_(10142197_?)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)_(10149975_?)dup
|
|
|
NC_000003.12:g.(?_10149777)_(10150035_?)del
|
|
|
NC_000003.12:g.10141762_10141816del
|
|
|
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.321C>T (p.Arg107=)
|
rs864622334
|
|
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+5G>A
|
rs61758376
|
|
NM_000551.4(VHL):c.340+5_340+17dup
|
|
|
NM_000551.4(VHL):c.340+6G>A
|
rs1278726013
|
|
NM_000551.4(VHL):c.340+7G>C
|
rs869025635
|
|
NM_000551.4(VHL):c.340+7del
|
rs1575922613
|
|
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.34_35delinsTT (p.Glu12Leu)
|
rs1696115662
|
|
NM_000551.4(VHL):c.35A>G (p.Glu12Gly)
|
rs1380706798
|
|
NM_000551.4(VHL):c.36G>C (p.Glu12Asp)
|
rs973493604
|
|
NM_000551.4(VHL):c.37G>C (p.Val13Leu)
|
rs919338576
|
|
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.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.40G>A (p.Gly14Ser)
|
rs1060503559
|
|
NM_000551.4(VHL):c.41G>A (p.Gly14Asp)
|
rs1575921044
|
|
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.43G>A (p.Ala15Thr)
|
rs1060503568
|
|
NM_000551.4(VHL):c.44C>T (p.Ala15Val)
|
|
|
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.46G>T (p.Glu16Ter)
|
rs1060503556
|
|
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.48G>C (p.Glu16Asp)
|
rs1057522140
|
|
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.51G>T (p.Glu17Asp)
|
rs2125124538
|
|
NM_000551.4(VHL):c.52del (p.Ala18fs)
|
rs1696117244
|
|
NM_000551.4(VHL):c.53C>T (p.Ala18Val)
|
rs1553619302
|
|
NM_000551.4(VHL):c.55G>C (p.Gly19Arg)
|
rs1382387188
|
|
NM_000551.4(VHL):c.56G>T (p.Gly19Val)
|
rs2125124549
|
|
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.58G>C (p.Val20Leu)
|
|
|
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.60C>G (p.Val20=)
|
rs1553619311
|
|
NM_000551.4(VHL):c.60C>T (p.Val20=)
|
|
|
NM_000551.4(VHL):c.61G>A (p.Glu21Lys)
|
rs2125124562
|
|
NM_000551.4(VHL):c.61G>C (p.Glu21Gln)
|
|
|
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.63A>G (p.Glu21=)
|
rs1696117984
|
|
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
|
|