NM_000551.4(VHL):c.598C>T (p.Arg200Trp)
|
rs28940298
|
0.00010
|
NM_000551.4(VHL):c.562C>G (p.Leu188Val)
|
rs5030824
|
0.00004
|
NM_000551.4(VHL):c.628C>T (p.Arg210Trp)
|
rs774380450
|
0.00003
|
NM_000551.4(VHL):c.376G>A (p.Asp126Asn)
|
rs104893831
|
0.00002
|
NM_000551.4(VHL):c.340+770T>C
|
rs1346312258
|
0.00001
|
NM_000551.4(VHL):c.341-25_370dup
|
rs1553619923
|
0.00001
|
NM_000551.4(VHL):c.377A>G (p.Asp126Gly)
|
rs1354593943
|
0.00001
|
NM_000551.4(VHL):c.429C>T (p.Asp143=)
|
rs773556807
|
0.00001
|
NM_000551.4(VHL):c.492G>C (p.Gln164His)
|
rs1352275281
|
0.00001
|
NM_000551.4(VHL):c.499C>T (p.Arg167Trp)
|
rs5030820
|
0.00001
|
NM_000551.4(VHL):c.538A>G (p.Ile180Val)
|
rs377715747
|
0.00001
|
NM_000551.4(VHL):c.340+574A>T
|
rs982745672
|
|
NM_000551.4(VHL):c.340+694_340+711dup
|
rs1575923363
|
|
NM_000551.4(VHL):c.341-3T>G
|
rs1131690965
|
|
NM_000551.4(VHL):c.344A>C (p.His115Pro)
|
rs5030812
|
|
NM_000551.4(VHL):c.345C>A (p.His115Gln)
|
rs864622646
|
|
NM_000551.4(VHL):c.350G>C (p.Trp117Ser)
|
|
|
NM_000551.4(VHL):c.351G>A (p.Trp117Ter)
|
|
|
NM_000551.4(VHL):c.356_357insGG (p.Phe119fs)
|
rs1131691526
|
|
NM_000551.4(VHL):c.357C>A (p.Phe119Leu)
|
|
|
NM_000551.4(VHL):c.358A>G (p.Arg120Gly)
|
rs869025642
|
|
NM_000551.4(VHL):c.362A>G (p.Asp121Gly)
|
rs5030832
|
|
NM_000551.4(VHL):c.362A>T (p.Asp121Val)
|
rs5030832
|
|
NM_000551.4(VHL):c.365C>T (p.Ala122Val)
|
rs1696261924
|
|
NM_000551.4(VHL):c.371C>T (p.Thr124Ile)
|
rs193922610
|
|
NM_000551.4(VHL):c.376G>T (p.Asp126Tyr)
|
rs104893831
|
|
NM_000551.4(VHL):c.381_382delinsTT (p.Leu128Phe)
|
rs869025645
|
|
NM_000551.4(VHL):c.383T>C (p.Leu128Pro)
|
rs2125128327
|
|
NM_000551.4(VHL):c.391A>T (p.Asn131Tyr)
|
rs2125128340
|
|
NM_000551.4(VHL):c.392A>G (p.Asn131Ser)
|
rs1553619963
|
|
NM_000551.4(VHL):c.393C>A (p.Asn131Lys)
|
rs1064794272
|
|
NM_000551.4(VHL):c.395A>C (p.Gln132Pro)
|
rs1347416980
|
|
NM_000551.4(VHL):c.397A>C (p.Thr133Pro)
|
rs1131690961
|
|
NM_000551.4(VHL):c.402_428del (p.Glu134_Val142del)
|
|
|
NM_000551.4(VHL):c.407T>C (p.Phe136Ser)
|
rs5030833
|
|
NM_000551.4(VHL):c.414A>G (p.Pro138=)
|
rs869025648
|
|
NM_000551.4(VHL):c.416C>T (p.Ser139Phe)
|
rs587780732
|
|
NM_000551.4(VHL):c.419_427delinsACAATTATTTGTGCCATCTCTCAA (p.Leu140_Asp143delinsHisAsnTyrLeuCysHisLeuSerAsn)
|
rs1559428180
|
|
NM_000551.4(VHL):c.430G>T (p.Gly144Ter)
|
rs869025650
|
|
NM_000551.4(VHL):c.433_439del (p.Gln145fs)
|
rs1559428217
|
|
NM_000551.4(VHL):c.446C>T (p.Ala149Val)
|
rs1696266503
|
|
NM_000551.4(VHL):c.449del (p.Asn150fs)
|
rs794727253
|
|
NM_000551.4(VHL):c.451A>G (p.Ile151Val)
|
rs876659313
|
|
NM_000551.4(VHL):c.458T>A (p.Leu153Gln)
|
rs193922611
|
|
NM_000551.4(VHL):c.460C>A (p.Pro154Thr)
|
|
|
NM_000551.4(VHL):c.460C>G (p.Pro154Ala)
|
rs1553619993
|
|
NM_000551.4(VHL):c.460C>T (p.Pro154Ser)
|
rs1553619993
|
|
NM_000551.4(VHL):c.462A>G (p.Pro154=)
|
rs1060503562
|
|
NM_000551.4(VHL):c.462del (p.Val155fs)
|
rs1559428267
|
|
NM_000551.4(VHL):c.463+2T>G
|
rs5030814
|
|
NM_000551.4(VHL):c.463+3A>C
|
rs1131690954
|
|
NM_000551.4(VHL):c.463+3A>G
|
rs1131690954
|
|
NM_000551.4(VHL):c.463G>C (p.Val155Leu)
|
rs869025659
|
|
NM_000551.4(VHL):c.463G>T (p.Val155Leu)
|
rs869025659
|
|
NM_000551.4(VHL):c.464T>G (p.Val155Gly)
|
|
|
NM_000551.4(VHL):c.471dup (p.Leu158fs)
|
rs869025661
|
|
NM_000551.4(VHL):c.473T>A (p.Leu158Gln)
|
rs121913346
|
|
NM_000551.4(VHL):c.475A>G (p.Lys159Glu)
|
rs1575932011
|
|
NM_000551.4(VHL):c.479A>T (p.Glu160Val)
|
rs864321641
|
|
NM_000551.4(VHL):c.481C>T (p.Arg161Ter)
|
rs5030818
|
|
NM_000551.4(VHL):c.483_500dup (p.Cys162_Arg167dup)
|
rs1553620312
|
|
NM_000551.4(VHL):c.483del (p.Cys162fs)
|
rs1696355438
|
|
NM_000551.4(VHL):c.484del (p.Cys162fs)
|
rs1696355550
|
|
NM_000551.4(VHL):c.485G>A (p.Cys162Tyr)
|
rs397516444
|
|
NM_000551.4(VHL):c.486C>A (p.Cys162Ter)
|
rs5030622
|
|
NM_000551.4(VHL):c.487C>A (p.Leu163Ile)
|
|
|
NM_000551.4(VHL):c.487C>T (p.Leu163Phe)
|
rs1553620318
|
|
NM_000551.4(VHL):c.488T>C (p.Leu163Pro)
|
rs28940297
|
|
NM_000551.4(VHL):c.490C>T (p.Gln164Ter)
|
rs5030819
|
|
NM_000551.4(VHL):c.492G>T (p.Gln164His)
|
rs1352275281
|
|
NM_000551.4(VHL):c.496_506del (p.Val166fs)
|
rs869025663
|
|
NM_000551.4(VHL):c.497T>C (p.Val166Ala)
|
rs397516445
|
|
NM_000551.4(VHL):c.500G>C (p.Arg167Pro)
|
rs5030821
|
|
NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs)
|
rs398123483
|
|
NM_000551.4(VHL):c.506T>C (p.Leu169Pro)
|
rs1131690962
|
|
NM_000551.4(VHL):c.506del (p.Leu169fs)
|
|
|
NM_000551.4(VHL):c.508G>C (p.Val170Leu)
|
rs1553620326
|
|
NM_000551.4(VHL):c.509T>A (p.Val170Asp)
|
rs864321642
|
|
NM_000551.4(VHL):c.509T>C (p.Val170Ala)
|
rs864321642
|
|
NM_000551.4(VHL):c.524A>G (p.Tyr175Cys)
|
rs193922613
|
|
NM_000551.4(VHL):c.531_542delinsTC (p.Arg177fs)
|
rs1553620331
|
|
NM_000551.4(VHL):c.547del (p.Ser183fs)
|
rs1559429778
|
|
NM_000551.4(VHL):c.548C>G (p.Ser183Trp)
|
rs5030823
|
|
NM_000551.4(VHL):c.551T>C (p.Leu184Pro)
|
rs1064793878
|
|
NM_000551.4(VHL):c.555C>G (p.Tyr185Ter)
|
rs864622109
|
|
NM_000551.4(VHL):c.556G>T (p.Glu186Ter)
|
rs367545984
|
|
NM_000551.4(VHL):c.558_560del (p.Glu186del)
|
rs1559429813
|
|
NM_000551.4(VHL):c.563T>A (p.Leu188Gln)
|
rs1559429824
|
|
NM_000551.4(VHL):c.563T>C (p.Leu188Pro)
|
rs1559429824
|
|
NM_000551.4(VHL):c.563T>G (p.Leu188Arg)
|
rs1559429824
|
|
NM_000551.4(VHL):c.565del (p.Glu189fs)
|
rs1559429829
|
|
NM_000551.4(VHL):c.571C>G (p.His191Asp)
|
rs28940301
|
|
NM_000551.4(VHL):c.572A>C (p.His191Pro)
|
rs370050374
|
|
NM_000551.4(VHL):c.574C>A (p.Pro192Thr)
|
rs28940300
|
|
NM_000551.4(VHL):c.574C>T (p.Pro192Ser)
|
rs28940300
|
|
NM_000551.4(VHL):c.575C>G (p.Pro192Arg)
|
rs902694906
|
|
NM_000551.4(VHL):c.575C>T (p.Pro192Leu)
|
rs902694906
|
|
NM_000551.4(VHL):c.581T>G (p.Val194Gly)
|
rs1131690963
|
|
NM_000551.4(VHL):c.586A>G (p.Lys196Glu)
|
rs281860296
|
|
NM_000551.4(VHL):c.587_590dup (p.Asp197fs)
|
rs869025666
|
|
NM_000551.4(VHL):c.588del (p.Asp197fs)
|
|
|
NM_000551.4(VHL):c.588dup (p.Asp197fs)
|
rs864321640
|
|
NM_000551.4(VHL):c.589G>A (p.Asp197Asn)
|
rs1064794951
|
|
NM_000551.4(VHL):c.593T>A (p.Leu198Gln)
|
rs869025667
|
|
NM_000551.4(VHL):c.593T>C (p.Leu198Pro)
|
rs869025667
|
|
NM_000551.4(VHL):c.599G>T (p.Arg200Leu)
|
rs754016774
|
|
NM_000551.4(VHL):c.602T>C (p.Leu201Pro)
|
rs2125130793
|
|
NM_000551.4(VHL):c.607_608del (p.Gln203fs)
|
|
|
NM_000551.4(VHL):c.640T>A (p.Ter214Arg)
|
rs1575932781
|
|
NM_000551.4(VHL):c.640T>C (p.Ter214Arg)
|
|
|
NM_000551.4(VHL):c.641G>T (p.Ter214Leu)
|
rs869025668
|
|
NM_000551.4(VHL):c.642A>G (p.Ter214Trp)
|
rs1559430011
|
|
NM_000551.4(VHL):c.642A>T (p.Ter214Cys)
|
rs1559430011
|
|