NM_000551.4(VHL):c.340+578C>T
|
rs139622356
|
0.00064
|
NM_000551.4(VHL):c.340+686_340+687del
|
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|
0.00037
|
NM_000551.4(VHL):c.341-6C>T
|
rs191201783
|
0.00019
|
NM_000551.4(VHL):c.-64C>T
|
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|
0.00014
|
NM_000551.4(VHL):c.246C>T (p.Arg82=)
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|
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|
NM_000551.4(VHL):c.340+727T>G
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|
0.00011
|
NM_000551.4(VHL):c.340+742G>T
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NM_000551.4(VHL):c.340+790G>A
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|
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|
NM_000551.4(VHL):c.340+691C>G
|
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|
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=)
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rs946898891
|
0.00007
|
NM_000551.4(VHL):c.340+10C>T
|
rs777622214
|
0.00006
|
NM_000551.4(VHL):c.464-10G>A
|
rs552930903
|
0.00006
|
NM_000551.4(VHL):c.531A>G (p.Arg177=)
|
rs766088261
|
0.00006
|
NM_000551.4(VHL):c.552C>T (p.Leu184=)
|
rs779157605
|
0.00005
|
NM_000551.4(VHL):c.119C>T (p.Pro40Leu)
|
rs200343185
|
0.00004
|
NM_000551.4(VHL):c.213C>T (p.Pro71=)
|
rs201663073
|
0.00004
|
NM_000551.4(VHL):c.420C>A (p.Leu140=)
|
rs369465430
|
0.00004
|
NM_000551.4(VHL):c.555C>T (p.Tyr185=)
|
rs864622109
|
0.00004
|
NM_000551.4(VHL):c.639T>C (p.Asp213=)
|
rs775624944
|
0.00004
|
NM_000551.4(VHL):c.340+20G>A
|
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|
0.00003
|
NM_000551.4(VHL):c.340+8C>A
|
rs756068442
|
0.00003
|
NM_000551.4(VHL):c.375C>T (p.His125=)
|
rs863224372
|
0.00003
|
NM_000551.4(VHL):c.463+4C>T
|
rs879253989
|
0.00003
|
NM_000551.4(VHL):c.549G>A (p.Ser183=)
|
rs193922614
|
0.00003
|
NM_000551.4(VHL):c.54A>C (p.Ala18=)
|
rs1305687580
|
0.00003
|
NM_000551.4(VHL):c.612G>A (p.Glu204=)
|
rs747805018
|
0.00003
|
NM_000551.4(VHL):c.114C>T (p.Ser38=)
|
rs417164
|
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.336C>T (p.Tyr112=)
|
rs751232153
|
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|
NM_000551.4(VHL):c.340+11G>A
|
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|
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|
NM_000551.4(VHL):c.340+604C>T
|
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|
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|
NM_000551.4(VHL):c.340+634C>T
|
rs1461514639
|
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|
NM_000551.4(VHL):c.340+789C>G
|
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|
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|
NM_000551.4(VHL):c.340+800G>A
|
rs999509680
|
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|
NM_000551.4(VHL):c.463+15C>G
|
rs761828544
|
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.129C>T (p.Ser43=)
|
rs864622645
|
0.00001
|
NM_000551.4(VHL):c.134C>G (p.Pro45Arg)
|
rs199583685
|
0.00001
|
NM_000551.4(VHL):c.171G>A (p.Gly57=)
|
rs750103719
|
0.00001
|
NM_000551.4(VHL):c.180G>C (p.Arg60=)
|
rs1224891387
|
0.00001
|
NM_000551.4(VHL):c.192C>T (p.Arg64=)
|
rs1012545817
|
0.00001
|
NM_000551.4(VHL):c.216C>T (p.Ser72=)
|
rs774557051
|
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.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.285G>T (p.Pro95=)
|
rs975432073
|
0.00001
|
NM_000551.4(VHL):c.291C>G (p.Pro97=)
|
rs1805159
|
0.00001
|
NM_000551.4(VHL):c.340+601C>G
|
rs978373924
|
0.00001
|
NM_000551.4(VHL):c.340+631A>G
|
rs947805761
|
0.00001
|
NM_000551.4(VHL):c.340+675A>G
|
rs1194123576
|
0.00001
|
NM_000551.4(VHL):c.340+707G>A
|
rs924279704
|
0.00001
|
NM_000551.4(VHL):c.340+713C>T
|
rs1432659600
|
0.00001
|
NM_000551.4(VHL):c.340+738C>T
|
rs1274332503
|
0.00001
|
NM_000551.4(VHL):c.340+791G>A
|
rs903894625
|
0.00001
|
NM_000551.4(VHL):c.340+809A>G
|
rs1377166151
|
0.00001
|
NM_000551.4(VHL):c.341-10G>C
|
rs140064807
|
0.00001
|
NM_000551.4(VHL):c.354C>T (p.Leu118=)
|
rs1051892430
|
0.00001
|
NM_000551.4(VHL):c.385C>T (p.Leu129=)
|
rs369018004
|
0.00001
|
NM_000551.4(VHL):c.387G>T (p.Leu129=)
|
rs778846471
|
0.00001
|
NM_000551.4(VHL):c.39A>G (p.Val13=)
|
rs996469746
|
0.00001
|
NM_000551.4(VHL):c.417T>A (p.Ser139=)
|
rs1406004337
|
0.00001
|
NM_000551.4(VHL):c.426T>C (p.Val142=)
|
rs143594610
|
0.00001
|
NM_000551.4(VHL):c.463+12T>C
|
rs1382435156
|
0.00001
|
NM_000551.4(VHL):c.465G>A (p.Val155=)
|
rs1696354036
|
0.00001
|
NM_000551.4(VHL):c.471T>C (p.Thr157=)
|
rs1252473811
|
0.00001
|
NM_000551.4(VHL):c.48G>A (p.Glu16=)
|
rs1057522140
|
0.00001
|
NM_000551.4(VHL):c.507A>C (p.Leu169=)
|
rs878854126
|
0.00001
|
NM_000551.4(VHL):c.540C>T (p.Ile180=)
|
rs374927292
|
0.00001
|
NM_000551.4(VHL):c.561T>C (p.Asp187=)
|
rs370769257
|
0.00001
|
NM_000551.4(VHL):c.582G>A (p.Val194=)
|
rs1696363804
|
0.00001
|
NM_000551.4(VHL):c.594G>C (p.Leu198=)
|
rs1575932599
|
0.00001
|
NM_000551.4(VHL):c.606A>G (p.Thr202=)
|
rs1575932637
|
0.00001
|
NM_000551.4(VHL):c.627A>G (p.Gln209=)
|
rs758494789
|
0.00001
|
NM_000551.4(VHL):c.90G>A (p.Gly30=)
|
rs391818
|
0.00001
|
NM_000551.4(VHL):c.99G>C (p.Ser33=)
|
rs912159589
|
0.00001
|
NM_000551.4(VHL):c.-61_-51dup
|
rs727503743
|
|
NM_000551.4(VHL):c.105C>A (p.Ala35=)
|
rs1310829877
|
|
NM_000551.4(VHL):c.111G>A (p.Glu37=)
|
|
|
NM_000551.4(VHL):c.117C>T (p.Gly39=)
|
rs1057521552
|
|
NM_000551.4(VHL):c.120G>A (p.Pro40=)
|
rs1189123803
|
|
NM_000551.4(VHL):c.123A>G (p.Glu41=)
|
rs2125124753
|
|
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.132C>T (p.Gly44=)
|
rs1696123413
|
|
NM_000551.4(VHL):c.135G>C (p.Pro45=)
|
rs773519476
|
|
NM_000551.4(VHL):c.135G>T (p.Pro45=)
|
|
|
NM_000551.4(VHL):c.141A>G (p.Glu47=)
|
rs1353920298
|
|
NM_000551.4(VHL):c.147C>A (p.Gly49=)
|
|
|
NM_000551.4(VHL):c.150C>A (p.Ala50=)
|
rs61751580
|
|
NM_000551.4(VHL):c.154G>A (p.Glu52Lys)
|
rs373068386
|
|
NM_000551.4(VHL):c.156G>A (p.Glu52=)
|
rs2125124847
|
|
NM_000551.4(VHL):c.159G>A (p.Glu53=)
|
rs1553619385
|
|
NM_000551.4(VHL):c.15G>A (p.Ala5=)
|
rs1355874307
|
|
NM_000551.4(VHL):c.165G>A (p.Glu55=)
|
rs1553619391
|
|
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.171G>C (p.Gly57=)
|
rs750103719
|
|
NM_000551.4(VHL):c.172C>A (p.Arg58=)
|
rs757781272
|
|
NM_000551.4(VHL):c.174G>A (p.Arg58=)
|
rs2125124907
|
|
NM_000551.4(VHL):c.177G>A (p.Pro59=)
|
rs2125124920
|
|
NM_000551.4(VHL):c.180G>A (p.Arg60=)
|
rs1224891387
|
|
NM_000551.4(VHL):c.183C>A (p.Pro61=)
|
rs63650860
|
|
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.189G>A (p.Leu63=)
|
rs1575921711
|
|
NM_000551.4(VHL):c.18G>A (p.Glu6=)
|
rs1004620245
|
|
NM_000551.4(VHL):c.195G>C (p.Ser65=)
|
rs1553619409
|
|
NM_000551.4(VHL):c.198G>A (p.Val66=)
|
|
|
NM_000551.4(VHL):c.201C>T (p.Asn67=)
|
rs769658318
|
|
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.207C>G (p.Arg69=)
|
rs1060503550
|
|
NM_000551.4(VHL):c.207C>T (p.Arg69=)
|
rs1060503550
|
|
NM_000551.4(VHL):c.213C>G (p.Pro71=)
|
rs201663073
|
|
NM_000551.4(VHL):c.21C>T (p.Asn7=)
|
rs1060503561
|
|
NM_000551.4(VHL):c.222C>T (p.Val74=)
|
rs759737367
|
|
NM_000551.4(VHL):c.228C>T (p.Phe76=)
|
rs1575921940
|
|
NM_000551.4(VHL):c.237C>G (p.Arg79=)
|
rs760899424
|
|
NM_000551.4(VHL):c.240T>C (p.Ser80=)
|
rs1553619424
|
|
NM_000551.4(VHL):c.243G>C (p.Pro81=)
|
|
|
NM_000551.4(VHL):c.252G>A (p.Val84=)
|
rs1436342215
|
|
NM_000551.4(VHL):c.255G>T (p.Leu85=)
|
rs876658508
|
|
NM_000551.4(VHL):c.258C>T (p.Pro86=)
|
rs781063331
|
|
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.270C>T (p.Asn90=)
|
|
|
NM_000551.4(VHL):c.273C>T (p.Phe91=)
|
|
|
NM_000551.4(VHL):c.276C>T (p.Asp92=)
|
rs1442093467
|
|
NM_000551.4(VHL):c.27C>T (p.Asp9=)
|
rs1017141110
|
|
NM_000551.4(VHL):c.282G>A (p.Glu94=)
|
|
|
NM_000551.4(VHL):c.285G>A (p.Pro95=)
|
rs975432073
|
|
NM_000551.4(VHL):c.288G>A (p.Gln96=)
|
rs1553619446
|
|
NM_000551.4(VHL):c.291C>T (p.Pro97=)
|
rs1805159
|
|
NM_000551.4(VHL):c.294C>T (p.Tyr98=)
|
rs1559426115
|
|
NM_000551.4(VHL):c.297A>C (p.Pro99=)
|
rs774753107
|
|
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.303G>A (p.Leu101=)
|
rs766583052
|
|
NM_000551.4(VHL):c.306G>A (p.Pro102=)
|
|
|
NM_000551.4(VHL):c.306G>T (p.Pro102=)
|
rs550155859
|
|
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.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.324C>T (p.Arg108=)
|
rs878854124
|
|
NM_000551.4(VHL):c.327C>A (p.Ile109=)
|
rs863224371
|
|
NM_000551.4(VHL):c.327C>T (p.Ile109=)
|
rs863224371
|
|
NM_000551.4(VHL):c.330C>T (p.His110=)
|
|
|
NM_000551.4(VHL):c.333C>T (p.Ser111=)
|
rs765978945
|
|
NM_000551.4(VHL):c.33C>G (p.Ala11=)
|
|
|
NM_000551.4(VHL):c.33C>T (p.Ala11=)
|
rs778674343
|
|
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+20G>T
|
rs757151154
|
|
NM_000551.4(VHL):c.340+577C>G
|
rs1696157821
|
|
NM_000551.4(VHL):c.340+595C>A
|
rs1335472800
|
|
NM_000551.4(VHL):c.340+5G>A
|
rs61758376
|
|
NM_000551.4(VHL):c.340+5_340+17dup
|
|
|
NM_000551.4(VHL):c.340+610C>T
|
|
|
NM_000551.4(VHL):c.340+623G>C
|
|
|
NM_000551.4(VHL):c.340+626A>G
|
rs1696159137
|
|
NM_000551.4(VHL):c.340+627A>G
|
|
|
NM_000551.4(VHL):c.340+631A>T
|
rs947805761
|
|
NM_000551.4(VHL):c.340+633T>C
|
rs2125125904
|
|
NM_000551.4(VHL):c.340+646A>G
|
rs765323685
|
|
NM_000551.4(VHL):c.340+646A>T
|
rs765323685
|
|
NM_000551.4(VHL):c.340+653_340+654del
|
rs1420441572
|
|
NM_000551.4(VHL):c.340+670A>T
|
|
|
NM_000551.4(VHL):c.340+688C>T
|
rs1696160788
|
|
NM_000551.4(VHL):c.340+694A>C
|
rs1441240589
|
|
NM_000551.4(VHL):c.340+701G>A
|
rs1039517619
|
|
NM_000551.4(VHL):c.340+701G>T
|
rs1039517619
|
|
NM_000551.4(VHL):c.340+703C>T
|
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NM_000551.4(VHL):c.340+704C>A
|
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NM_000551.4(VHL):c.340+704C>G
|
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|
NM_000551.4(VHL):c.340+714G>A
|
rs1054796088
|
|
NM_000551.4(VHL):c.340+714G>C
|
rs1054796088
|
|
NM_000551.4(VHL):c.340+714G>T
|
rs1054796088
|
|
NM_000551.4(VHL):c.340+716G>C
|
rs1696162086
|
|
NM_000551.4(VHL):c.340+721A>T
|
|
|
NM_000551.4(VHL):c.340+728dup
|
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NM_000551.4(VHL):c.345C>T (p.His115=)
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NM_000551.4(VHL):c.464-7C>T
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NM_000551.4(VHL):c.465G>T (p.Val155=)
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NM_000551.4(VHL):c.477A>G (p.Lys159=)
|
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|
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NM_000551.4(VHL):c.498C>T (p.Val166=)
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|
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|
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NM_000551.4(VHL):c.516T>G (p.Pro172=)
|
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NM_000551.4(VHL):c.522T>C (p.Asn174=)
|
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NM_000551.4(VHL):c.525C>T (p.Tyr175=)
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rs5030835
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|
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NM_000551.4(VHL):c.549G>T (p.Ser183=)
|
rs193922614
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NM_000551.4(VHL):c.562C>T (p.Leu188=)
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NM_000551.4(VHL):c.570C>T (p.Asp190=)
|
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|
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|
rs1060503558
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NM_000551.4(VHL):c.57C>A (p.Gly19=)
|
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NM_000551.4(VHL):c.588A>G (p.Lys196=)
|
rs935543450
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NM_000551.4(VHL):c.591C>T (p.Asp197=)
|
rs1575932584
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|
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|
rs1575932599
|
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|
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|
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|
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NM_000551.4(VHL):c.606A>C (p.Thr202=)
|
rs1575932637
|
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|
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NM_000551.4(VHL):c.60C>G (p.Val20=)
|
rs1553619311
|
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NM_000551.4(VHL):c.60C>T (p.Val20=)
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NM_000551.4(VHL):c.618T>C (p.Ile206=)
|
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|
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|
rs1575932755
|
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NM_000551.4(VHL):c.63A>G (p.Glu21=)
|
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|
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|
rs768452685
|
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NM_000551.4(VHL):c.69C>T (p.Tyr23=)
|
rs1553619313
|
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|
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|
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|
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|
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|
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|
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|
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NM_000551.4(VHL):c.75T>C (p.Pro25=)
|
rs1553619317
|
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|
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NM_000551.4(VHL):c.87C>T (p.Gly29=)
|
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|
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|
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|
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|
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NM_000551.4(VHL):c.9G>T (p.Arg3=)
|
rs1696113334
|
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