NM_000551.4(VHL):c.*1860A>G
|
rs458106
|
0.98202
|
NM_000551.4(VHL):c.*2975G>C
|
rs801913
|
0.90200
|
NM_000551.4(VHL):c.*3644_*3645insG
|
rs201632485
|
0.86506
|
NM_000551.4(VHL):c.*1023G>A
|
rs1681669
|
0.60118
|
NM_000551.4(VHL):c.*294G>A
|
rs1642742
|
0.57360
|
NM_000551.4(VHL):c.*1060C>T
|
rs1681668
|
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|
NM_000551.4(VHL):c.*2548G>A
|
rs187719061
|
0.12455
|
NM_000551.4(VHL):c.*2140C>T
|
rs140614750
|
0.12149
|
NM_000551.4(VHL):c.*1973_*1979del
|
rs149248243
|
0.12080
|
NM_000551.4(VHL):c.*2600T>A
|
rs142728549
|
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|
NM_000551.4(VHL):c.*823G>A
|
rs7629500
|
0.02732
|
NM_000551.4(VHL):c.*3523T>G
|
rs17610448
|
0.02083
|
NM_000551.4(VHL):c.*724T>G
|
rs13090104
|
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|
NM_000551.4(VHL):c.*3352G>A
|
rs112130915
|
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|
NM_000551.4(VHL):c.*1990G>A
|
rs113678809
|
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|
NM_000551.4(VHL):c.*1787G>A
|
rs115303528
|
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|
NM_000551.4(VHL):c.*2201G>A
|
rs145666034
|
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|
NM_000551.4(VHL):c.*1222A>G
|
rs72563744
|
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|
NM_000551.4(VHL):c.*3453A>G
|
rs140044688
|
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|
NM_000551.4(VHL):c.*1759A>G
|
rs114732761
|
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|
NM_000551.4(VHL):c.*713T>C
|
rs13090098
|
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|
NM_000551.4(VHL):c.*718T>C
|
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|
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|
NM_000551.4(VHL):c.*1328C>A
|
rs78562649
|
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|
NM_000551.4(VHL):c.*1419A>G
|
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|
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|
NM_000551.4(VHL):c.*1960G>A
|
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|
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|
NM_000551.4(VHL):c.*1465C>A
|
rs183067022
|
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|
NM_000551.4(VHL):c.*2562C>T
|
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|
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|
NM_000551.4(VHL):c.*3603C>T
|
rs145137834
|
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|
NM_000551.4(VHL):c.*3021T>C
|
rs138933035
|
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|
NM_000551.4(VHL):c.*2594C>A
|
rs191582744
|
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|
NM_000551.4(VHL):c.*3395C>T
|
rs184144719
|
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|
NM_000551.4(VHL):c.*574T>C
|
rs143062510
|
0.00195
|
NM_000551.4(VHL):c.*820A>G
|
rs182781943
|
0.00168
|
NM_000551.4(VHL):c.*1619T>C
|
rs145608408
|
0.00154
|
NM_000551.4(VHL):c.*1947A>T
|
rs546263769
|
0.00143
|
NM_000551.4(VHL):c.*2541_*2546del
|
rs886057738
|
0.00142
|
NM_000551.4(VHL):c.*2468C>T
|
rs138237298
|
0.00109
|
NM_000551.4(VHL):c.*3205C>T
|
rs561918442
|
0.00090
|
NM_000551.4(VHL):c.*3389G>A
|
rs368247150
|
0.00079
|
NM_000551.4(VHL):c.*1829G>A
|
rs757233828
|
0.00068
|
NM_000551.4(VHL):c.340+578C>T
|
rs139622356
|
0.00064
|
NM_000551.4(VHL):c.*2543_*2546del
|
rs886057739
|
0.00063
|
NM_000551.4(VHL):c.463+8C>T
|
rs5030834
|
0.00051
|
NM_000551.4(VHL):c.*3617G>A
|
rs527601820
|
0.00043
|
NM_000551.4(VHL):c.*2854G>T
|
rs546347626
|
0.00042
|
NM_000551.4(VHL):c.*1721C>G
|
rs574191130
|
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|
NM_000551.4(VHL):c.*3625T>A
|
rs552161251
|
0.00036
|
NM_000551.4(VHL):c.*1172C>T
|
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|
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|
NM_000551.4(VHL):c.*3374G>A
|
rs144782223
|
0.00028
|
NM_000551.4(VHL):c.*579G>C
|
rs761456338
|
0.00025
|
NM_000551.4(VHL):c.*1371A>G
|
rs771759826
|
0.00024
|
NM_000551.4(VHL):c.*1249G>A
|
rs886057716
|
0.00022
|
NM_000551.4(VHL):c.*391C>T
|
rs138178021
|
0.00022
|
NM_000551.4(VHL):c.*1680T>C
|
rs561087293
|
0.00019
|
NM_000551.4(VHL):c.341-6C>T
|
rs191201783
|
0.00019
|
NM_000551.4(VHL):c.*2716G>A
|
rs538719970
|
0.00018
|
NM_000551.4(VHL):c.*1513A>G
|
rs538580892
|
0.00016
|
NM_000551.4(VHL):c.*392G>A
|
rs886057708
|
0.00016
|
NM_000551.4(VHL):c.*2570C>T
|
rs909427137
|
0.00015
|
NM_000551.4(VHL):c.*885T>G
|
rs998479331
|
0.00015
|
NM_000551.4(VHL):c.*1207G>A
|
rs139557214
|
0.00014
|
NM_000551.4(VHL):c.*1867A>G
|
rs566885734
|
0.00014
|
NM_000551.4(VHL):c.*989C>T
|
rs186084634
|
0.00014
|
NM_000551.4(VHL):c.629G>A (p.Arg210Gln)
|
rs138780791
|
0.00013
|
NM_000551.4(VHL):c.*1691A>G
|
rs539201437
|
0.00011
|
NM_000551.4(VHL):c.*385del
|
rs886057707
|
0.00011
|
NM_000551.4(VHL):c.*70C>T
|
rs552290225
|
0.00011
|
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)
|
rs28940298
|
0.00010
|
NM_000551.4(VHL):c.*1351G>A
|
rs905412506
|
0.00009
|
NM_000551.4(VHL):c.*1281A>G
|
rs886057717
|
0.00008
|
NM_000551.4(VHL):c.*432C>G
|
rs1230198427
|
0.00006
|
NM_000551.4(VHL):c.*635G>A
|
rs886057712
|
0.00006
|
NM_000551.4(VHL):c.464-10G>A
|
rs552930903
|
0.00006
|
NM_000551.4(VHL):c.*2464A>G
|
rs1039347276
|
0.00005
|
NM_000551.4(VHL):c.552C>T (p.Leu184=)
|
rs779157605
|
0.00005
|
NM_000551.4(VHL):c.*1677C>T
|
rs886057723
|
0.00004
|
NM_000551.4(VHL):c.*1878T>C
|
rs1454245545
|
0.00004
|
NM_000551.4(VHL):c.*2782C>G
|
rs886057747
|
0.00004
|
NM_000551.4(VHL):c.*3307C>T
|
rs1236502754
|
0.00004
|
NM_000551.4(VHL):c.*876G>A
|
rs1037001327
|
0.00004
|
NM_000551.4(VHL):c.556G>A (p.Glu186Lys)
|
rs367545984
|
0.00004
|
NM_000551.4(VHL):c.562C>G (p.Leu188Val)
|
rs5030824
|
0.00004
|
NM_000551.4(VHL):c.631A>C (p.Met211Leu)
|
rs200019083
|
0.00004
|
NM_000551.4(VHL):c.639T>C (p.Asp213=)
|
rs775624944
|
0.00004
|
NM_000551.4(VHL):c.*2272C>T
|
rs1035906615
|
0.00003
|
NM_000551.4(VHL):c.*2341T>C
|
rs973162600
|
0.00003
|
NM_000551.4(VHL):c.*2571A>G
|
rs886057741
|
0.00003
|
NM_000551.4(VHL):c.375C>T (p.His125=)
|
rs863224372
|
0.00003
|
NM_000551.4(VHL):c.549G>A (p.Ser183=)
|
rs193922614
|
0.00003
|
NM_000551.4(VHL):c.554A>G (p.Tyr185Cys)
|
rs561874453
|
0.00003
|
NM_000551.4(VHL):c.628C>T (p.Arg210Trp)
|
rs774380450
|
0.00003
|
NM_000551.4(VHL):c.*1452A>T
|
rs552760935
|
0.00002
|
NM_000551.4(VHL):c.*280A>G
|
rs886057705
|
0.00002
|
NM_000551.4(VHL):c.*303A>T
|
rs573000980
|
0.00002
|
NM_000551.4(VHL):c.*3128G>A
|
rs886057751
|
0.00002
|
NM_000551.4(VHL):c.*3222A>G
|
rs886057752
|
0.00002
|
NM_000551.4(VHL):c.*327G>A
|
rs1247645604
|
0.00002
|
NM_000551.4(VHL):c.*3616C>T
|
rs750516726
|
0.00002
|
NM_000551.4(VHL):c.376G>A (p.Asp126Asn)
|
rs104893831
|
0.00002
|
NM_000551.4(VHL):c.439A>G (p.Ile147Val)
|
rs1057517560
|
0.00002
|
NM_000551.4(VHL):c.605C>T (p.Thr202Ile)
|
rs779514074
|
0.00002
|
NM_000551.4(VHL):c.*1072C>T
|
rs886057715
|
0.00001
|
NM_000551.4(VHL):c.*1852T>C
|
rs1356745170
|
0.00001
|
NM_000551.4(VHL):c.*2224A>G
|
rs886057734
|
0.00001
|
NM_000551.4(VHL):c.*2715C>T
|
rs578053681
|
0.00001
|
NM_000551.4(VHL):c.*2904A>G
|
rs1339328787
|
0.00001
|
NM_000551.4(VHL):c.*2919T>A
|
rs1335170233
|
0.00001
|
NM_000551.4(VHL):c.*452G>A
|
rs866994372
|
0.00001
|
NM_000551.4(VHL):c.*522G>C
|
rs1696383500
|
0.00001
|
NM_000551.4(VHL):c.341-10G>C
|
rs140064807
|
0.00001
|
NM_000551.4(VHL):c.341-25_370dup
|
rs1553619923
|
0.00001
|
NM_000551.4(VHL):c.373C>T (p.His125Tyr)
|
rs375401722
|
0.00001
|
NM_000551.4(VHL):c.416C>G (p.Ser139Cys)
|
rs587780732
|
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.540C>T (p.Ile180=)
|
rs374927292
|
0.00001
|
NM_000551.4(VHL):c.544A>G (p.Arg182Gly)
|
rs778205243
|
0.00001
|
NM_000551.4(VHL):c.599G>A (p.Arg200Gln)
|
rs754016774
|
0.00001
|
NC_000003.12:g.10139220_10148953del
|
|
|
NC_000003.12:g.10139708_10142406del
|
|
|
NC_000003.12:g.10139761_10142459del
|
|
|
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.*1001T>C
|
rs1696395449
|
|
NM_000551.4(VHL):c.*1087G>A
|
rs889996347
|
|
NM_000551.4(VHL):c.*1114C>A
|
rs1696399406
|
|
NM_000551.4(VHL):c.*1181G>C
|
rs72563745
|
|
NM_000551.4(VHL):c.*1301G>A
|
rs541963428
|
|
NM_000551.4(VHL):c.*1330A>G
|
rs886057718
|
|
NM_000551.4(VHL):c.*1347C>A
|
rs886057719
|
|
NM_000551.4(VHL):c.*1481G>A
|
rs886057720
|
|
NM_000551.4(VHL):c.*1542C>A
|
rs1266903436
|
|
NM_000551.4(VHL):c.*1617G>T
|
rs886057721
|
|
NM_000551.4(VHL):c.*1643C>A
|
rs886057722
|
|
NM_000551.4(VHL):c.*1689A>G
|
rs1696413219
|
|
NM_000551.4(VHL):c.*1741G>T
|
rs886057724
|
|
NM_000551.4(VHL):c.*1780C>G
|
rs886057725
|
|
NM_000551.4(VHL):c.*1782T>G
|
rs886057726
|
|
NM_000551.4(VHL):c.*1808A>G
|
rs886057727
|
|
NM_000551.4(VHL):c.*1887C>A
|
rs886057728
|
|
NM_000551.4(VHL):c.*1913T>C
|
rs1696419066
|
|
NM_000551.4(VHL):c.*1922G>A
|
rs886057729
|
|
NM_000551.4(VHL):c.*2034T>A
|
rs1136249
|
|
NM_000551.4(VHL):c.*2034T>G
|
rs1136249
|
|
NM_000551.4(VHL):c.*2090del
|
rs886057730
|
|
NM_000551.4(VHL):c.*2093del
|
rs886057731
|
|
NM_000551.4(VHL):c.*2094del
|
rs886057732
|
|
NM_000551.4(VHL):c.*20C>A
|
rs1696369145
|
|
NM_000551.4(VHL):c.*2117del
|
rs757106274
|
|
NM_000551.4(VHL):c.*2118del
|
rs886057733
|
|
NM_000551.4(VHL):c.*2419dup
|
rs564788050
|
|
NM_000551.4(VHL):c.*2432T>G
|
rs886057736
|
|
NM_000551.4(VHL):c.*2540_*2545del
|
rs71052299
|
|
NM_000551.4(VHL):c.*2545del
|
rs71052299
|
|
NM_000551.4(VHL):c.*2546GA[1]
|
rs886057740
|
|
NM_000551.4(VHL):c.*2647C>A
|
rs886057742
|
|
NM_000551.4(VHL):c.*2660T>A
|
rs886057743
|
|
NM_000551.4(VHL):c.*266_*269del
|
rs886057704
|
|
NM_000551.4(VHL):c.*2670G>C
|
rs886057744
|
|
NM_000551.4(VHL):c.*2681C>T
|
rs1696442933
|
|
NM_000551.4(VHL):c.*2738G>A
|
rs886057745
|
|
NM_000551.4(VHL):c.*275C>T
|
rs1696376132
|
|
NM_000551.4(VHL):c.*2762T>C
|
rs886057746
|
|
NM_000551.4(VHL):c.*2812A>C
|
rs886057748
|
|
NM_000551.4(VHL):c.*2893G>A
|
rs777358147
|
|
NM_000551.4(VHL):c.*2937G>A
|
rs922231519
|
|
NM_000551.4(VHL):c.*2960C>A
|
rs886057749
|
|
NM_000551.4(VHL):c.*2988G>A
|
rs886057750
|
|
NM_000551.4(VHL):c.*3040G>A
|
rs923804041
|
|
NM_000551.4(VHL):c.*3097G>A
|
rs149416955
|
|
NM_000551.4(VHL):c.*3249C>T
|
rs886057753
|
|
NM_000551.4(VHL):c.*3261T>C
|
rs886057754
|
|
NM_000551.4(VHL):c.*3323ACAAAAA[3]
|
rs886057755
|
|
NM_000551.4(VHL):c.*3411C>T
|
rs1696466386
|
|
NM_000551.4(VHL):c.*3470G>T
|
rs886057756
|
|
NM_000551.4(VHL):c.*3482dup
|
rs148013887
|
|
NM_000551.4(VHL):c.*3492_*3493dup
|
rs112494627
|
|
NM_000551.4(VHL):c.*349G>T
|
rs886057706
|
|
NM_000551.4(VHL):c.*3506G>T
|
rs886057759
|
|
NM_000551.4(VHL):c.*3545C>A
|
rs886057760
|
|
NM_000551.4(VHL):c.*3645_*3646insGT
|
rs1553620861
|
|
NM_000551.4(VHL):c.*370A>G
|
rs576059326
|
|
NM_000551.4(VHL):c.*448G>T
|
rs886057709
|
|
NM_000551.4(VHL):c.*523del
|
rs546118793
|
|
NM_000551.4(VHL):c.*572T>A
|
rs1345623222
|
|
NM_000551.4(VHL):c.*597G>A
|
rs886057711
|
|
NM_000551.4(VHL):c.*687C>A
|
rs886057713
|
|
NM_000551.4(VHL):c.*7C>G
|
rs778005138
|
|
NM_000551.4(VHL):c.*816G>C
|
rs142396182
|
|
NM_000551.4(VHL):c.*923GTTTT[5]
|
rs544983652
|
|
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+221_464-1411del
|
|
|
NM_000551.4(VHL):c.340+283_463+499del
|
|
|
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.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.341-21_341-17del
|
rs869025639
|
|
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.341-3T>G
|
rs1131690965
|
|
NM_000551.4(VHL):c.341-49_*2815del
|
|
|
NM_000551.4(VHL):c.341-5G>A
|
rs372340900
|
|
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.345C>T (p.His115=)
|
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.358A>G (p.Arg120Gly)
|
rs869025642
|
|
NM_000551.4(VHL):c.362A>G (p.Asp121Gly)
|
rs5030832
|
|
NM_000551.4(VHL):c.363del (p.Asp121fs)
|
rs2125128271
|
|
NM_000551.4(VHL):c.371C>T (p.Thr124Ile)
|
rs193922610
|
|
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.381_382delinsTT (p.Leu128Phe)
|
rs869025645
|
|
NM_000551.4(VHL):c.381del (p.Leu128fs)
|
rs1559428107
|
|
NM_000551.4(VHL):c.383T>C (p.Leu128Pro)
|
rs2125128327
|
|
NM_000551.4(VHL):c.386T>C (p.Leu129Pro)
|
rs1559428119
|
|
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.392A>G (p.Asn131Ser)
|
rs1553619963
|
|
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.407T>G (p.Phe136Cys)
|
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.419_427delinsACAATTATTTGTGCCATCTCTCAA (p.Leu140_Asp143delinsHisAsnTyrLeuCysHisLeuSerAsn)
|
rs1559428180
|
|
NM_000551.4(VHL):c.429C>G (p.Asp143Glu)
|
rs773556807
|
|
NM_000551.4(VHL):c.430G>T (p.Gly144Ter)
|
rs869025650
|
|
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>C (p.Ala149Pro)
|
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.449A>G (p.Asn150Ser)
|
rs760184234
|
|
NM_000551.4(VHL):c.449del (p.Asn150fs)
|
rs794727253
|
|
NM_000551.4(VHL):c.451A>G (p.Ile151Val)
|
rs876659313
|
|
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.458T>A (p.Leu153Gln)
|
rs193922611
|
|
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+2T>G
|
rs5030814
|
|
NM_000551.4(VHL):c.463+37_463+39del
|
rs869025658
|
|
NM_000551.4(VHL):c.463+3A>G
|
rs1131690954
|
|
NM_000551.4(VHL):c.463+439_*991del
|
|
|
NM_000551.4(VHL):c.463G>A (p.Val155Met)
|
rs869025659
|
|
NM_000551.4(VHL):c.464-117del
|
rs193922612
|
|
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.471dup (p.Leu158fs)
|
rs869025661
|
|
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.483_500dup (p.Cys162_Arg167dup)
|
rs1553620312
|
|
NM_000551.4(VHL):c.483del (p.Cys162fs)
|
rs1696355438
|
|
NM_000551.4(VHL):c.484T>C (p.Cys162Arg)
|
rs1553620313
|
|
NM_000551.4(VHL):c.484del (p.Cys162fs)
|
rs1696355550
|
|
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>A (p.Cys162Ter)
|
rs5030622
|
|
NM_000551.4(VHL):c.486C>G (p.Cys162Trp)
|
rs5030622
|
|
NM_000551.4(VHL):c.490C>G (p.Gln164Glu)
|
rs5030819
|
|
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.492G>T (p.Gln164His)
|
rs1352275281
|
|
NM_000551.4(VHL):c.496G>T (p.Val166Phe)
|
rs104893825
|
|
NM_000551.4(VHL):c.496_506del (p.Val166fs)
|
rs869025663
|
|
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.497T>G (p.Val166Gly)
|
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.500G>C (p.Arg167Pro)
|
rs5030821
|
|
NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs)
|
rs398123483
|
|
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.524A>G (p.Tyr175Cys)
|
rs193922613
|
|
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.539T>G (p.Ile180Ser)
|
rs1559429750
|
|
NM_000551.4(VHL):c.540_543del (p.Val181fs)
|
rs869025664
|
|
NM_000551.4(VHL):c.541G>A (p.Val181Ile)
|
rs878854127
|
|
NM_000551.4(VHL):c.545G>A (p.Arg182Lys)
|
rs749774529
|
|
NM_000551.4(VHL):c.546del (p.Arg182fs)
|
rs869025665
|
|
NM_000551.4(VHL):c.547del (p.Ser183fs)
|
rs1559429778
|
|
NM_000551.4(VHL):c.548C>A (p.Ser183Ter)
|
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.555_557del (p.Tyr185_Glu186delinsTer)
|
|
|
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.565del (p.Glu189fs)
|
rs1559429829
|
|
NM_000551.4(VHL):c.572A>G (p.His191Arg)
|
rs370050374
|
|
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.585_606dup (p.Gln203fs)
|
rs1559429876
|
|
NM_000551.4(VHL):c.586A>T (p.Lys196Ter)
|
rs281860296
|
|
NM_000551.4(VHL):c.587_590dup (p.Asp197fs)
|
rs869025666
|
|
NM_000551.4(VHL):c.589G>A (p.Asp197Asn)
|
rs1064794951
|
|
NM_000551.4(VHL):c.593T>C (p.Leu198Pro)
|
rs869025667
|
|
NM_000551.4(VHL):c.597del (p.Glu199fs)
|
|
|
NM_000551.4(VHL):c.602T>C (p.Leu201Pro)
|
rs2125130793
|
|
NM_000551.4(VHL):c.640T>A (p.Ter214Arg)
|
rs1575932781
|
|
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
|
|
NM_000551.4(VHL):c.[340+617C>G;340+648T>C]
|
|
|
NM_198156.3(VHL):c.341-3273del
|
rs869025638
|
|