NM_000551.4(VHL):c.241C>T (p.Pro81Ser)
|
rs104893829
|
0.00039
|
NM_000551.4(VHL):c.562C>G (p.Leu188Val)
|
rs5030824
|
0.00004
|
NM_000551.4(VHL):c.292T>C (p.Tyr98His)
|
rs5030809
|
0.00001
|
NM_000551.4(VHL):c.499C>T (p.Arg167Trp)
|
rs5030820
|
0.00001
|
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter)
|
rs74315366
|
0.00001
|
NC_000003.11:g.10160443_10184298del
|
|
|
NC_000003.11:g.10167511_10193484del
|
|
|
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.10182212_10212738del
|
|
|
NC_000003.11:g.10184086_10218542del
|
|
|
NC_000003.11:g.10188005_10207561del
|
|
|
NC_000003.11:g.10188894_10200033del
|
|
|
NC_000003.11:g.10189293_10201409del
|
|
|
NC_000003.11:g.10189323_10202010del
|
|
|
NC_000003.11:g.10190033_10209132del
|
|
|
NC_000003.12:g.10133996_10152871del
|
|
|
NC_000003.12:g.10135142_10142466del
|
|
|
NC_000003.12:g.10135142_10143568del
|
|
|
NC_000003.12:g.10137026_10145481del
|
|
|
NC_000003.12:g.10137102_10143357del
|
|
|
NC_000003.12:g.10139220_10148953del
|
|
|
NC_000003.12:g.10139708_10142406del
|
|
|
NC_000003.12:g.10139761_10142459del
|
|
|
NC_000003.12:g.10140148_10140759del
|
rs1696067154
|
|
NC_000003.12:g.10140648_10148414del
|
|
|
NC_000003.12:g.10140738_10142535del
|
|
|
NC_000003.12:g.10141523_10142610del
|
|
|
NC_000003.12:g.10148440_10158273del
|
|
|
NC_000003.12:g.10148566_10158401del
|
|
|
NC_000003.12:g.10148615_10158450del
|
|
|
NM_000551.3(VHL):c.(?_464)_642+?del
|
|
|
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.189_192del (p.Arg64_Ser65insTer)
|
rs869025647
|
|
NM_000551.4(VHL):c.189dup (p.Arg64fs)
|
rs1553619402
|
|
NM_000551.4(VHL):c.191G>C (p.Arg64Pro)
|
rs104893826
|
|
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.203C>A (p.Ser68Ter)
|
rs869025617
|
|
NM_000551.4(VHL):c.206dup (p.Glu70fs)
|
rs1553619415
|
|
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.213del (p.Ser72fs)
|
|
|
NM_000551.4(VHL):c.217C>T (p.Gln73Ter)
|
rs869025619
|
|
NM_000551.4(VHL):c.221del (p.Val74fs)
|
rs869025620
|
|
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.232A>C (p.Asn78His)
|
rs869025621
|
|
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.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.239G>T (p.Ser80Ile)
|
rs5030805
|
|
NM_000551.4(VHL):c.239_261del (p.Ser80fs)
|
rs1559425951
|
|
NM_000551.4(VHL):c.245G>C (p.Arg82Pro)
|
rs794726890
|
|
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.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.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.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.292T>A (p.Tyr98Asn)
|
|
|
NM_000551.4(VHL):c.292_295del (p.Tyr98fs)
|
rs1559426095
|
|
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.300dup (p.Leu101fs)
|
rs869025626
|
|
NM_000551.4(VHL):c.304_305dup (p.Pro103fs)
|
rs1559426145
|
|
NM_000551.4(VHL):c.309del (p.Gly104fs)
|
rs869025627
|
|
NM_000551.4(VHL):c.309dup (p.Gly104fs)
|
rs869025628
|
|
NM_000551.4(VHL):c.313A>C (p.Thr105Pro)
|
rs1553619461
|
|
NM_000551.4(VHL):c.319C>G (p.Arg107Gly)
|
rs397516440
|
|
NM_000551.4(VHL):c.320G>C (p.Arg107Pro)
|
rs193922609
|
|
NM_000551.4(VHL):c.331A>C (p.Ser111Arg)
|
|
|
NM_000551.4(VHL):c.331A>G (p.Ser111Gly)
|
rs1559426203
|
|
NM_000551.4(VHL):c.332G>A (p.Ser111Asn)
|
rs869025631
|
|
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.335_340+5del
|
rs869025632
|
|
NM_000551.4(VHL):c.337C>T (p.Arg113Ter)
|
rs5030810
|
|
NM_000551.4(VHL):c.340+1019_463+450del
|
|
|
NM_000551.4(VHL):c.340+1543_464-1191del
|
|
|
NM_000551.4(VHL):c.340+1580_464-1477del
|
|
|
NM_000551.4(VHL):c.340+1G>A
|
rs730882032
|
|
NM_000551.4(VHL):c.340+221_464-1411del
|
|
|
NM_000551.4(VHL):c.340+283_463+499del
|
|
|
NM_000551.4(VHL):c.340+2_340+6del
|
rs869025634
|
|
NM_000551.4(VHL):c.340+307_464-1191del
|
|
|
NM_000551.4(VHL):c.340+365_464-909del
|
|
|
NM_000551.4(VHL):c.340+428_464-1203del
|
|
|
NM_000551.4(VHL):c.340+444_464-1187del
|
|
|
NM_000551.4(VHL):c.340+994_*2333del
|
|
|
NM_000551.4(VHL):c.340G>C (p.Gly114Arg)
|
rs869025636
|
|
NM_000551.4(VHL):c.341-1382_*3401del
|
|
|
NM_000551.4(VHL):c.341-1406_*3377del
|
|
|
NM_000551.4(VHL):c.341-1583_464-1477del
|
|
|
NM_000551.4(VHL):c.341-1857_464-1328del
|
|
|
NM_000551.4(VHL):c.341-1G>A
|
rs1575927648
|
|
NM_000551.4(VHL):c.341-1G>T
|
|
|
NM_000551.4(VHL):c.341-279_464-614del
|
|
|
NM_000551.4(VHL):c.341-2A>G
|
rs869025637
|
|
NM_000551.4(VHL):c.341-2A>T
|
|
|
NM_000551.4(VHL):c.341-49_*2815del
|
|
|
NM_000551.4(VHL):c.341-929_*3191del
|
|
|
NM_000551.4(VHL):c.341-951_464-1018del
|
|
|
NM_000551.4(VHL):c.345C>A (p.His115Gln)
|
rs864622646
|
|
NM_000551.4(VHL):c.346dup (p.Leu116fs)
|
rs1559428051
|
|
NM_000551.4(VHL):c.350G>A (p.Trp117Ter)
|
rs1559428056
|
|
NM_000551.4(VHL):c.351G>T (p.Trp117Cys)
|
rs727504215
|
|
NM_000551.4(VHL):c.351del (p.Trp117fs)
|
rs869025640
|
|
NM_000551.4(VHL):c.352_353insA (p.Leu118fs)
|
rs869025641
|
|
NM_000551.4(VHL):c.353T>G (p.Leu118Arg)
|
rs5030830
|
|
NM_000551.4(VHL):c.355T>C (p.Phe119Leu)
|
rs1553619948
|
|
NM_000551.4(VHL):c.357C>G (p.Phe119Leu)
|
rs1559428077
|
|
NM_000551.4(VHL):c.362A>G (p.Asp121Gly)
|
rs5030832
|
|
NM_000551.4(VHL):c.363del (p.Asp121fs)
|
rs2125128271
|
|
NM_000551.4(VHL):c.374A>C (p.His125Pro)
|
rs869025643
|
|
NM_000551.4(VHL):c.374_375del (p.His125fs)
|
rs869025644
|
|
NM_000551.4(VHL):c.377del (p.Asp126fs)
|
rs1553619952
|
|
NM_000551.4(VHL):c.381del (p.Leu128fs)
|
rs1559428107
|
|
NM_000551.4(VHL):c.388G>C (p.Val130Leu)
|
rs104893830
|
|
NM_000551.4(VHL):c.388G>T (p.Val130Phe)
|
rs104893830
|
|
NM_000551.4(VHL):c.393_394dup (p.Gln132fs)
|
rs1559428128
|
|
NM_000551.4(VHL):c.394C>T (p.Gln132Ter)
|
rs5030813
|
|
NM_000551.4(VHL):c.395A>C (p.Gln132Pro)
|
rs1347416980
|
|
NM_000551.4(VHL):c.397del (p.Thr133fs)
|
rs1559428134
|
|
NM_000551.4(VHL):c.402del (p.Glu134fs)
|
rs869025646
|
|
NM_000551.4(VHL):c.405A>C (p.Leu135Phe)
|
rs119103278
|
|
NM_000551.4(VHL):c.407T>C (p.Phe136Ser)
|
rs5030833
|
|
NM_000551.4(VHL):c.408del (p.Phe136fs)
|
rs397516442
|
|
NM_000551.4(VHL):c.413del (p.Pro138fs)
|
rs1559428164
|
|
NM_000551.4(VHL):c.414A>G (p.Pro138=)
|
rs869025648
|
|
NM_000551.4(VHL):c.419_420del (p.Leu140fs)
|
rs869025649
|
|
NM_000551.4(VHL):c.431del (p.Gly144fs)
|
rs869025651
|
|
NM_000551.4(VHL):c.433C>T (p.Gln145Ter)
|
rs749704215
|
|
NM_000551.4(VHL):c.433_439del (p.Gln145fs)
|
rs1559428217
|
|
NM_000551.4(VHL):c.435_436del (p.Gln145fs)
|
rs869025652
|
|
NM_000551.4(VHL):c.444del (p.Phe148fs)
|
rs869025653
|
|
NM_000551.4(VHL):c.444dup (p.Ala149fs)
|
rs869025653
|
|
NM_000551.4(VHL):c.445G>A (p.Ala149Thr)
|
rs587780077
|
|
NM_000551.4(VHL):c.445G>T (p.Ala149Ser)
|
rs587780077
|
|
NM_000551.4(VHL):c.445dup (p.Ala149fs)
|
rs1559428232
|
|
NM_000551.4(VHL):c.449del (p.Asn150fs)
|
rs794727253
|
|
NM_000551.4(VHL):c.452T>C (p.Ile151Thr)
|
rs869025655
|
|
NM_000551.4(VHL):c.452T>G (p.Ile151Ser)
|
rs869025655
|
|
NM_000551.4(VHL):c.454_463+17del
|
rs869025656
|
|
NM_000551.4(VHL):c.460C>T (p.Pro154Ser)
|
rs1553619993
|
|
NM_000551.4(VHL):c.462del (p.Val155fs)
|
rs1559428267
|
|
NM_000551.4(VHL):c.463+1008_*2803del
|
|
|
NM_000551.4(VHL):c.463+1G>C
|
rs869025657
|
|
NM_000551.4(VHL):c.463+439_*991del
|
|
|
NM_000551.4(VHL):c.464-1226_*2771del
|
|
|
NM_000551.4(VHL):c.464-1G>A
|
rs5030817
|
|
NM_000551.4(VHL):c.464-1G>C
|
rs5030817
|
|
NM_000551.4(VHL):c.464-1G>T
|
rs5030817
|
|
NM_000551.4(VHL):c.464-2A>G
|
rs5030816
|
|
NM_000551.4(VHL):c.467A>G (p.Tyr156Cys)
|
rs397516441
|
|
NM_000551.4(VHL):c.470C>T (p.Thr157Ile)
|
rs869025660
|
|
NM_000551.4(VHL):c.473T>C (p.Leu158Pro)
|
rs121913346
|
|
NM_000551.4(VHL):c.474_476delinsC (p.Lys159fs)
|
rs1553620305
|
|
NM_000551.4(VHL):c.475A>T (p.Lys159Ter)
|
rs1575932011
|
|
NM_000551.4(VHL):c.477del (p.Glu160fs)
|
rs730882020
|
|
NM_000551.4(VHL):c.477dup (p.Glu160fs)
|
rs730882020
|
|
NM_000551.4(VHL):c.481C>T (p.Arg161Ter)
|
rs5030818
|
|
NM_000551.4(VHL):c.482G>A (p.Arg161Gln)
|
rs730882035
|
|
NM_000551.4(VHL):c.484T>C (p.Cys162Arg)
|
rs1553620313
|
|
NM_000551.4(VHL):c.485G>A (p.Cys162Tyr)
|
rs397516444
|
|
NM_000551.4(VHL):c.485G>T (p.Cys162Phe)
|
rs397516444
|
|
NM_000551.4(VHL):c.486C>G (p.Cys162Trp)
|
rs5030622
|
|
NM_000551.4(VHL):c.490C>T (p.Gln164Ter)
|
rs5030819
|
|
NM_000551.4(VHL):c.491A>G (p.Gln164Arg)
|
rs267607170
|
|
NM_000551.4(VHL):c.496G>T (p.Val166Phe)
|
rs104893825
|
|
NM_000551.4(VHL):c.497T>A (p.Val166Asp)
|
rs397516445
|
|
NM_000551.4(VHL):c.497T>C (p.Val166Ala)
|
rs397516445
|
|
NM_000551.4(VHL):c.499C>G (p.Arg167Gly)
|
rs5030820
|
|
NM_000551.4(VHL):c.500G>A (p.Arg167Gln)
|
rs5030821
|
|
NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs)
|
rs398123483
|
|
NM_000551.4(VHL):c.509T>A (p.Val170Asp)
|
rs864321642
|
|
NM_000551.4(VHL):c.525C>G (p.Tyr175Ter)
|
rs5030835
|
|
NM_000551.4(VHL):c.526del (p.Arg176fs)
|
rs1559429711
|
|
NM_000551.4(VHL):c.529A>T (p.Arg177Ter)
|
rs1559429717
|
|
NM_000551.4(VHL):c.531_542delinsTC (p.Arg177fs)
|
rs1553620331
|
|
NM_000551.4(VHL):c.533T>A (p.Leu178Gln)
|
rs5030822
|
|
NM_000551.4(VHL):c.533T>C (p.Leu178Pro)
|
rs5030822
|
|
NM_000551.4(VHL):c.533T>G (p.Leu178Arg)
|
rs5030822
|
|
NM_000551.4(VHL):c.533_534del (p.Leu178fs)
|
rs1559429736
|
|
NM_000551.4(VHL):c.548C>A (p.Ser183Ter)
|
rs5030823
|
|
NM_000551.4(VHL):c.555C>G (p.Tyr185Ter)
|
rs864622109
|
|
NM_000551.4(VHL):c.555_557del (p.Tyr185_Glu186delinsTer)
|
|
|
NM_000551.4(VHL):c.575C>T (p.Pro192Leu)
|
rs902694906
|
|
NM_000551.4(VHL):c.575del (p.Pro192fs)
|
rs2125130735
|
|
NM_000551.4(VHL):c.583C>T (p.Gln195Ter)
|
rs5030825
|
|
NM_000551.4(VHL):c.585_586del (p.Lys196fs)
|
rs1553620362
|
|
NM_000551.4(VHL):c.586A>T (p.Lys196Ter)
|
rs281860296
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NM_000551.4(VHL):c.597del (p.Glu199fs)
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NM_000551.4(VHL):c.[340+617C>G;340+648T>C]
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NM_198156.3(VHL):c.341-3273del
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rs869025638
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