NM_000551.4(VHL):c.241C>T (p.Pro81Ser)
|
rs104893829
|
0.00039
|
NM_000551.4(VHL):c.242C>T (p.Pro81Leu)
|
rs193922608
|
0.00001
|
NM_000551.4(VHL):c.292T>C (p.Tyr98His)
|
rs5030809
|
0.00001
|
NC_000003.11:g.(?_10183532)_(10188330_?)del
|
|
|
NC_000003.11:g.(?_10183579)_(10185909_?)del
|
|
|
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.(?_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)_(10143024_?)del
|
|
|
NC_000003.12:g.(?_10149777)_(10150035_?)del
|
|
|
NC_000003.12:g.10140148_10140759del
|
rs1696067154
|
|
NM_000551.4(VHL):c.163del (p.Glu55fs)
|
rs869025615
|
|
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.179_192del (p.Arg60fs)
|
rs1064796408
|
|
NM_000551.4(VHL):c.180_193del (p.Pro61fs)
|
|
|
NM_000551.4(VHL):c.180del (p.Val62fs)
|
rs730882037
|
|
NM_000551.4(VHL):c.182_183del (p.Pro61fs)
|
|
|
NM_000551.4(VHL):c.184del (p.Val62fs)
|
|
|
NM_000551.4(VHL):c.188T>C (p.Leu63Pro)
|
rs104893827
|
|
NM_000551.4(VHL):c.189_192del (p.Arg64_Ser65insTer)
|
rs869025647
|
|
NM_000551.4(VHL):c.189_193dup (p.Ser65fs)
|
|
|
NM_000551.4(VHL):c.189dup (p.Arg64fs)
|
rs1553619402
|
|
NM_000551.4(VHL):c.191G>C (p.Arg64Pro)
|
rs104893826
|
|
NM_000551.4(VHL):c.191dup (p.Ser65fs)
|
|
|
NM_000551.4(VHL):c.192del (p.Ser65fs)
|
rs730882031
|
|
NM_000551.4(VHL):c.193T>A (p.Ser65Thr)
|
rs869025616
|
|
NM_000551.4(VHL):c.193T>C (p.Ser65Pro)
|
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.202T>C (p.Ser68Pro)
|
|
|
NM_000551.4(VHL):c.203C>A (p.Ser68Ter)
|
rs869025617
|
|
NM_000551.4(VHL):c.204dup (p.Arg69fs)
|
|
|
NM_000551.4(VHL):c.206dup (p.Glu70fs)
|
rs1553619415
|
|
NM_000551.4(VHL):c.207_208dup (p.Glu70fs)
|
|
|
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.209A>G (p.Glu70Gly)
|
rs786202857
|
|
NM_000551.4(VHL):c.212_213dup (p.Ser72fs)
|
|
|
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.219_220del (p.Gln73fs)
|
rs730882039
|
|
NM_000551.4(VHL):c.221del (p.Val74fs)
|
rs869025620
|
|
NM_000551.4(VHL):c.222C>A (p.Val74=)
|
rs759737367
|
|
NM_000551.4(VHL):c.223_225del (p.Ile75del)
|
rs794729660
|
|
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del)
|
rs5030648
|
|
NM_000551.4(VHL):c.226_227del (p.Phe76fs)
|
rs1060503552
|
|
NM_000551.4(VHL):c.231C>A (p.Cys77Ter)
|
|
|
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.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>A (p.Ser80Asn)
|
rs5030805
|
|
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.241_244dup (p.Arg82fs)
|
rs2125125103
|
|
NM_000551.4(VHL):c.244C>G (p.Arg82Gly)
|
rs1214305423
|
|
NM_000551.4(VHL):c.244_259dup (p.Val87fs)
|
rs2125125105
|
|
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.250del (p.Val84fs)
|
|
|
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.261_262dup (p.Trp88fs)
|
|
|
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>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.266T>C (p.Leu89Pro)
|
rs5030807
|
|
NM_000551.4(VHL):c.269del (p.Asn90fs)
|
rs869025623
|
|
NM_000551.4(VHL):c.277G>A (p.Gly93Ser)
|
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.278del (p.Gly93fs)
|
rs1131690964
|
|
NM_000551.4(VHL):c.280G>T (p.Glu94Ter)
|
rs5030829
|
|
NM_000551.4(VHL):c.286C>T (p.Gln96Ter)
|
rs1131690959
|
|
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.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.298del (p.Thr100fs)
|
rs2125125269
|
|
NM_000551.4(VHL):c.300dup (p.Leu101fs)
|
rs869025626
|
|
NM_000551.4(VHL):c.304_305dup (p.Pro103fs)
|
rs1559426145
|
|
NM_000551.4(VHL):c.305dup (p.Pro103fs)
|
|
|
NM_000551.4(VHL):c.309del (p.Gly104fs)
|
rs869025627
|
|
NM_000551.4(VHL):c.309dup (p.Gly104fs)
|
rs869025628
|
|
NM_000551.4(VHL):c.310_311insC (p.Gly104fs)
|
|
|
NM_000551.4(VHL):c.313A>C (p.Thr105Pro)
|
rs1553619461
|
|
NM_000551.4(VHL):c.314dup (p.Arg107fs)
|
rs2125125325
|
|
NM_000551.4(VHL):c.319C>A (p.Arg107Ser)
|
|
|
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.329del (p.His110fs)
|
rs1559426199
|
|
NM_000551.4(VHL):c.329dup (p.His110fs)
|
|
|
NM_000551.4(VHL):c.330_331delinsTT (p.Ser111Cys)
|
|
|
NM_000551.4(VHL):c.331A>C (p.Ser111Arg)
|
|
|
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.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.339_340+5del
|
rs1575922562
|
|
NM_000551.4(VHL):c.340+1G>A
|
rs730882032
|
|
NM_000551.4(VHL):c.340+1G>C
|
rs730882032
|
|
NM_000551.4(VHL):c.340+2T>G
|
|
|
NM_000551.4(VHL):c.340+2_340+6del
|
rs869025634
|
|
NM_000551.4(VHL):c.340G>A (p.Gly114Ser)
|
rs869025636
|
|
NM_000551.4(VHL):c.340G>C (p.Gly114Arg)
|
rs869025636
|
|