ClinVar Miner

List of variants in gene combination LOC107303340, VHL

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1075
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HGVS dbSNP gnomAD frequency
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.463+108T>G rs1678607 0.89694
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 0.57297
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.463+174del rs140172229 0.07764
NM_000551.4(VHL):c.341-314G>A rs9819196 0.07350
NM_000551.4(VHL):c.*2600T>A rs142728549 0.06248
NM_000551.4(VHL):c.340+994A>G rs11920834 0.02920
NM_000551.4(VHL):c.341-216C>T rs143057620 0.02748
NM_000551.4(VHL):c.*823G>A rs7629500 0.02732
NM_000551.4(VHL):c.341-37G>A rs115744107 0.02087
NM_000551.4(VHL):c.*3523T>G rs17610448 0.02083
NM_000551.4(VHL):c.*724T>G rs13090104 0.01627
NM_000551.4(VHL):c.464-153C>G rs112857191 0.01617
NM_000551.4(VHL):c.464-94T>A rs116128787 0.01267
NM_000551.4(VHL):c.463+43A>G rs34661876 0.01217
NM_000551.4(VHL):c.*3352G>A rs112130915 0.01140
NM_000551.4(VHL):c.*1990G>A rs113678809 0.01135
NM_000551.4(VHL):c.340+648T>C rs73024533 0.01009
NM_000551.4(VHL):c.341-246G>T rs149056499 0.00662
NM_000551.4(VHL):c.*1787G>A rs115303528 0.00645
NM_000551.4(VHL):c.*2201G>A rs145666034 0.00645
NM_000551.4(VHL):c.341-1135T>C rs572770652 0.00644
NM_000551.4(VHL):c.*1222A>G rs72563744 0.00642
NM_000551.4(VHL):c.*3453A>G rs140044688 0.00642
NM_000551.4(VHL):c.*1759A>G rs114732761 0.00641
NM_000551.4(VHL):c.*713T>C rs13090098 0.00641
NM_000551.4(VHL):c.*718T>C rs116182840 0.00641
NM_000551.4(VHL):c.341-1133C>T rs116710496 0.00640
NM_000551.4(VHL):c.341-182C>T rs552624308 0.00640
NM_000551.4(VHL):c.*1328C>A rs78562649 0.00560
NM_000551.4(VHL):c.*1419A>G rs141916278 0.00551
NM_000551.4(VHL):c.*1960G>A rs9822696 0.00515
NM_000551.4(VHL):c.*1465C>A rs183067022 0.00497
NM_000551.4(VHL):c.*2562C>T rs747406421 0.00359
NM_000551.4(VHL):c.*3603C>T rs145137834 0.00352
NM_000551.4(VHL):c.463+256G>T rs143659897 0.00317
NM_000551.4(VHL):c.*3021T>C rs138933035 0.00296
NM_000551.4(VHL):c.*2594C>A rs191582744 0.00216
NM_000551.4(VHL):c.*3395C>T rs184144719 0.00205
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.341-38C>T rs185858030 0.00084
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.341-1173C>T rs547519244 0.00049
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 0.00037
NM_000551.4(VHL):c.340+679T>G rs866935879 0.00037
NM_000551.4(VHL):c.340+686_340+687del rs944477902 0.00037
NM_000551.4(VHL):c.*3625T>A rs552161251 0.00036
NM_000551.4(VHL):c.*1172C>T rs528852958 0.00031
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.340+727T>G rs996243576 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.340+742G>T rs186099278 0.00009
NM_000551.4(VHL):c.340+790G>A rs527534541 0.00009
NM_000551.4(VHL):c.*1281A>G rs886057717 0.00008
NM_000551.4(VHL):c.340+691C>G rs1041395081 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.340+616C>T rs544465283 0.00006
NM_000551.4(VHL):c.340+837A>G rs190906863 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.*2464A>G rs1039347276 0.00005
NM_000551.4(VHL):c.340+621T>C rs562162481 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.420C>A (p.Leu140=) rs369465430 0.00004
NM_000551.4(VHL):c.555C>T (p.Tyr185=) rs864622109 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.340+705G>A rs1411141967 0.00003
NM_000551.4(VHL):c.375C>T (p.His125=) rs863224372 0.00003
NM_000551.4(VHL):c.427G>C (p.Asp143His) rs372757722 0.00003
NM_000551.4(VHL):c.463+4C>T rs879253989 0.00003
NM_000551.4(VHL):c.464-1262G>A rs271992 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.612G>A (p.Glu204=) rs747805018 0.00003
NM_000551.4(VHL):c.614G>A (p.Arg205His) rs777130107 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.340+604C>T rs192085256 0.00002
NM_000551.4(VHL):c.340+634C>T rs1461514639 0.00002
NM_000551.4(VHL):c.340+724G>C rs900590059 0.00002
NM_000551.4(VHL):c.340+789C>G rs1241756327 0.00002
NM_000551.4(VHL):c.340+800G>A rs999509680 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.463+15C>G rs761828544 0.00002
NM_000551.4(VHL):c.526A>G (p.Arg176Gly) rs1575932259 0.00002
NM_000551.4(VHL):c.590A>C (p.Asp197Ala) rs752940316 0.00002
NM_000551.4(VHL):c.605C>T (p.Thr202Ile) rs779514074 0.00002
NM_000551.4(VHL):c.620C>T (p.Ala207Val) rs1060503549 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.*7C>A rs778005138 0.00001
NM_000551.4(VHL):c.340+581A>G rs968298760 0.00001
NM_000551.4(VHL):c.340+594G>T rs1235225768 0.00001
NM_000551.4(VHL):c.340+595C>T rs1335472800 0.00001
NM_000551.4(VHL):c.340+601C>G rs978373924 0.00001
NM_000551.4(VHL):c.340+615C>T rs961184868 0.00001
NM_000551.4(VHL):c.340+618T>G rs1379155896 0.00001
NM_000551.4(VHL):c.340+631A>G rs947805761 0.00001
NM_000551.4(VHL):c.340+638C>G rs973712723 0.00001
NM_000551.4(VHL):c.340+675A>G rs1194123576 0.00001
NM_000551.4(VHL):c.340+685T>A rs1696160690 0.00001
NM_000551.4(VHL):c.340+700C>G rs778132298 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+752G>A rs1696163031 0.00001
NM_000551.4(VHL):c.340+770T>C rs1346312258 0.00001
NM_000551.4(VHL):c.340+791G>A rs903894625 0.00001
NM_000551.4(VHL):c.340+805C>G rs1696164445 0.00001
NM_000551.4(VHL):c.340+809A>G rs1377166151 0.00001
NM_000551.4(VHL):c.340+812G>C rs1696164675 0.00001
NM_000551.4(VHL):c.340+816A>C rs1031288121 0.00001
NM_000551.4(VHL):c.340+825C>T rs1156980093 0.00001
NM_000551.4(VHL):c.340+828A>G rs570619659 0.00001
NM_000551.4(VHL):c.340+829C>T rs907291243 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.341-8C>G rs1272767361 0.00001
NM_000551.4(VHL):c.354C>T (p.Leu118=) rs1051892430 0.00001
NM_000551.4(VHL):c.373C>T (p.His125Tyr) rs375401722 0.00001
NM_000551.4(VHL):c.377A>G (p.Asp126Gly) rs1354593943 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.408T>G (p.Phe136Leu) rs878854125 0.00001
NM_000551.4(VHL):c.413C>T (p.Pro138Leu) rs780178275 0.00001
NM_000551.4(VHL):c.416C>G (p.Ser139Cys) rs587780732 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.429C>T (p.Asp143=) rs773556807 0.00001
NM_000551.4(VHL):c.440T>C (p.Ile147Thr) rs1060503555 0.00001
NM_000551.4(VHL):c.463+12T>C rs1382435156 0.00001
NM_000551.4(VHL):c.464-3C>T rs904414377 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.492G>C (p.Gln164His) rs1352275281 0.00001
NM_000551.4(VHL):c.499C>T (p.Arg167Trp) rs5030820 0.00001
NM_000551.4(VHL):c.507A>C (p.Leu169=) rs878854126 0.00001
NM_000551.4(VHL):c.513G>T (p.Lys171Asn) rs1365445365 0.00001
NM_000551.4(VHL):c.528G>T (p.Arg176Ser) rs762748790 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.548C>T (p.Ser183Leu) rs5030823 0.00001
NM_000551.4(VHL):c.553T>A (p.Tyr185Asn) rs768390987 0.00001
NM_000551.4(VHL):c.561T>C (p.Asp187=) rs370769257 0.00001
NM_000551.4(VHL):c.565G>A (p.Glu189Lys) rs762790375 0.00001
NM_000551.4(VHL):c.578A>G (p.Asn193Ser) rs879254225 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.596A>C (p.Glu199Ala) rs760690217 0.00001
NM_000551.4(VHL):c.599G>A (p.Arg200Gln) rs754016774 0.00001
NM_000551.4(VHL):c.606A>G (p.Thr202=) rs1575932637 0.00001
NM_000551.4(VHL):c.608A>G (p.Gln203Arg) rs1270568049 0.00001
NM_000551.4(VHL):c.627A>G (p.Gln209=) rs758494789 0.00001
NM_000551.4(VHL):c.634G>T (p.Gly212Ter) rs1553620389 0.00001
NM_000551.4(VHL):c.637G>C (p.Asp213His) rs1696367993 0.00001
NC_000003.11:g.(?_10183526)_(10191655_?)dup
NC_000003.11:g.(?_10188188)_(10188330_?)dup
NC_000003.11:g.(?_10191461)_(10191659_?)dup
NC_000003.11:g.(?_10191471)_(10195354_?)dup
NC_000003.12:g.(?_10141635)_(10153670_?)del
NC_000003.12:g.(?_10141838)_(10149975_?)del
NC_000003.12:g.(?_10146504)_(10146646_?)del
NC_000003.12:g.(?_10146504)_(10149975_?)del
NC_000003.12:g.(?_10146508)_(10149971_?)del
NC_000003.12:g.(?_10146514)_(10146636_?)del
NC_000003.12:g.(?_10149777)_(10149975_?)del
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_000551.3(VHL):c.464-?_*3705del
NM_000551.3(VHL):c.464_480del17
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.*1145C>T rs2125131630
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.*1_*3del (p.Ter214=) rs1286603999
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.*29A>C
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.*9G>C
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+172_340+174dup rs556405301
NM_000551.4(VHL):c.340+173_340+174dup rs556405301
NM_000551.4(VHL):c.340+174dup rs556405301
NM_000551.4(VHL):c.340+175C>T rs1678594
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+574A>T rs982745672
NM_000551.4(VHL):c.340+575G>T rs2125125827
NM_000551.4(VHL):c.340+576T>C
NM_000551.4(VHL):c.340+576T>G
NM_000551.4(VHL):c.340+577C>G rs1696157821
NM_000551.4(VHL):c.340+577C>T
NM_000551.4(VHL):c.340+581A>C rs968298760
NM_000551.4(VHL):c.340+583G>C rs2125125847
NM_000551.4(VHL):c.340+584A>T
NM_000551.4(VHL):c.340+587C>G rs1488349413
NM_000551.4(VHL):c.340+588C>A rs1696158160
NM_000551.4(VHL):c.340+589A>C rs2125125850
NM_000551.4(VHL):c.340+590G>C rs1696158201
NM_000551.4(VHL):c.340+591T>A
NM_000551.4(VHL):c.340+591T>C
NM_000551.4(VHL):c.340+592G>A rs1696158247
NM_000551.4(VHL):c.340+595C>A rs1335472800
NM_000551.4(VHL):c.340+598G>A rs2125125857
NM_000551.4(VHL):c.340+599T>A
NM_000551.4(VHL):c.340+601C>T
NM_000551.4(VHL):c.340+603G>C
NM_000551.4(VHL):c.340+605G>A rs1696158642
NM_000551.4(VHL):c.340+605G>C rs1696158642
NM_000551.4(VHL):c.340+605G>T rs1696158642
NM_000551.4(VHL):c.340+606T>A
NM_000551.4(VHL):c.340+607A>G rs2125125866
NM_000551.4(VHL):c.340+608del rs1696158689
NM_000551.4(VHL):c.340+610C>T
NM_000551.4(VHL):c.340+613T>C
NM_000551.4(VHL):c.340+613dup rs2125125871
NM_000551.4(VHL):c.340+614G>T rs2125125873
NM_000551.4(VHL):c.340+614del rs2125125876
NM_000551.4(VHL):c.340+615C>A rs961184868
NM_000551.4(VHL):c.340+617C>G rs1575923261
NM_000551.4(VHL):c.340+617C>T rs1575923261
NM_000551.4(VHL):c.340+619C>T rs1319443909
NM_000551.4(VHL):c.340+622G>A rs2125125888
NM_000551.4(VHL):c.340+623G>A rs2125125891
NM_000551.4(VHL):c.340+623G>C
NM_000551.4(VHL):c.340+625G>A rs2125125893
NM_000551.4(VHL):c.340+626A>G rs1696159137
NM_000551.4(VHL):c.340+627A>C rs1696159189
NM_000551.4(VHL):c.340+627A>G
NM_000551.4(VHL):c.340+628C>T
NM_000551.4(VHL):c.340+629A>G
NM_000551.4(VHL):c.340+630C>T rs2125125896
NM_000551.4(VHL):c.340+630_340+631del rs1696159237
NM_000551.4(VHL):c.340+631A>T rs947805761
NM_000551.4(VHL):c.340+633T>C rs2125125904
NM_000551.4(VHL):c.340+633del rs2125125902
NM_000551.4(VHL):c.340+634C>A rs1461514639
NM_000551.4(VHL):c.340+635C>T rs2125125908
NM_000551.4(VHL):c.340+637C>A rs1696159418
NM_000551.4(VHL):c.340+637C>T
NM_000551.4(VHL):c.340+638C>T rs973712723
NM_000551.4(VHL):c.340+641G>C rs1422221693
NM_000551.4(VHL):c.340+641_340+642insCTCC
NM_000551.4(VHL):c.340+643G>A rs1165627970
NM_000551.4(VHL):c.340+643G>T rs1165627970
NM_000551.4(VHL):c.340+646A>G rs765323685
NM_000551.4(VHL):c.340+646A>T rs765323685
NM_000551.4(VHL):c.340+647C>G rs929633840
NM_000551.4(VHL):c.340+649G>C rs1696159926
NM_000551.4(VHL):c.340+650A>C
NM_000551.4(VHL):c.340+650A>T rs2125125925
NM_000551.4(VHL):c.340+651C>T rs1251375973
NM_000551.4(VHL):c.340+652A>C rs1696160044
NM_000551.4(VHL):c.340+653_340+654del rs1420441572
NM_000551.4(VHL):c.340+654A>G
NM_000551.4(VHL):c.340+655T>C rs2125125937
NM_000551.4(VHL):c.340+657C>G rs987014948
NM_000551.4(VHL):c.340+658A>G
NM_000551.4(VHL):c.340+663C>T rs1272443616
NM_000551.4(VHL):c.340+664A>G
NM_000551.4(VHL):c.340+665G>A rs1696160266
NM_000551.4(VHL):c.340+665G>C rs1696160266
NM_000551.4(VHL):c.340+666del rs2125125944
NM_000551.4(VHL):c.340+666dup
NM_000551.4(VHL):c.340+668A>G rs2125125949
NM_000551.4(VHL):c.340+668dup rs2125125946
NM_000551.4(VHL):c.340+669C>T rs2125125953
NM_000551.4(VHL):c.340+670A>G rs2125125958
NM_000551.4(VHL):c.340+670A>T
NM_000551.4(VHL):c.340+672G>T rs1696160349
NM_000551.4(VHL):c.340+673C>G
NM_000551.4(VHL):c.340+674C>T rs1696160438
NM_000551.4(VHL):c.340+677G>A rs2125125965
NM_000551.4(VHL):c.340+681A>T rs1696160604
NM_000551.4(VHL):c.340+682T>C rs1696160646
NM_000551.4(VHL):c.340+687G>A rs2125125975
NM_000551.4(VHL):c.340+688C>G
NM_000551.4(VHL):c.340+688C>T rs1696160788
NM_000551.4(VHL):c.340+689G>T
NM_000551.4(VHL):c.340+689del
NM_000551.4(VHL):c.340+690C>A
NM_000551.4(VHL):c.340+690C>T
NM_000551.4(VHL):c.340+691C>T rs1041395081
NM_000551.4(VHL):c.340+692G>A rs943884473
NM_000551.4(VHL):c.340+692G>C rs943884473
NM_000551.4(VHL):c.340+692G>T rs943884473
NM_000551.4(VHL):c.340+693G>A rs2125125987
NM_000551.4(VHL):c.340+693_340+698del rs1369151672
NM_000551.4(VHL):c.340+693del
NM_000551.4(VHL):c.340+694A>C rs1441240589
NM_000551.4(VHL):c.340+694A>G rs1441240589
NM_000551.4(VHL):c.340+694_340+711dup rs1575923363
NM_000551.4(VHL):c.340+695_340+702dup rs1381868678
NM_000551.4(VHL):c.340+695del rs2125125992
NM_000551.4(VHL):c.340+696G>A rs1353527753
NM_000551.4(VHL):c.340+696G>T rs1353527753
NM_000551.4(VHL):c.340+700C>A
NM_000551.4(VHL):c.340+700_340+701insCTTCC rs2125125995
NM_000551.4(VHL):c.340+701G>A rs1039517619
NM_000551.4(VHL):c.340+701G>C rs1039517619
NM_000551.4(VHL):c.340+701G>T rs1039517619
NM_000551.4(VHL):c.340+702_340+705del rs2125125997
NM_000551.4(VHL):c.340+702del
NM_000551.4(VHL):c.340+703C>T
NM_000551.4(VHL):c.340+704C>A
NM_000551.4(VHL):c.340+704C>G
NM_000551.4(VHL):c.340+704C>T rs1696161517
NM_000551.4(VHL):c.340+705G>C rs1411141967
NM_000551.4(VHL):c.340+706T>A rs1696161617
NM_000551.4(VHL):c.340+706T>G rs1696161617
NM_000551.4(VHL):c.340+709G>T rs935892552
NM_000551.4(VHL):c.340+710T>C
NM_000551.4(VHL):c.340+710T>G rs2125126011
NM_000551.4(VHL):c.340+712G>T rs1696161869
NM_000551.4(VHL):c.340+713C>A rs1432659600
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+715T>G rs2125126018
NM_000551.4(VHL):c.340+716G>A rs1696162086
NM_000551.4(VHL):c.340+716G>C rs1696162086
NM_000551.4(VHL):c.340+720A>G rs2125126022
NM_000551.4(VHL):c.340+721A>T
NM_000551.4(VHL):c.340+722T>C rs1696162133
NM_000551.4(VHL):c.340+725A>G rs2125126029
NM_000551.4(VHL):c.340+726C>G rs1575923399
NM_000551.4(VHL):c.340+726C>T rs1575923399
NM_000551.4(VHL):c.340+728T>C rs1696162498
NM_000551.4(VHL):c.340+728dup rs1232519357
NM_000551.4(VHL):c.340+729A>C rs2125126034
NM_000551.4(VHL):c.340+730C>A rs548008573
NM_000551.4(VHL):c.340+730C>G rs548008573
NM_000551.4(VHL):c.340+730C>T rs548008573
NM_000551.4(VHL):c.340+731C>T
NM_000551.4(VHL):c.340+732T>G rs1696162641
NM_000551.4(VHL):c.340+733G>A rs2125126040
NM_000551.4(VHL):c.340+733G>C rs2125126040
NM_000551.4(VHL):c.340+733G>T rs2125126040
NM_000551.4(VHL):c.340+735C>G
NM_000551.4(VHL):c.340+735C>T
NM_000551.4(VHL):c.340+737G>C rs1696162735
NM_000551.4(VHL):c.340+739T>G rs2125126047
NM_000551.4(VHL):c.340+742G>C rs186099278
NM_000551.4(VHL):c.340+744G>A
NM_000551.4(VHL):c.340+745A>G
NM_000551.4(VHL):c.340+745A>T
NM_000551.4(VHL):c.340+746T>C rs2125126051
NM_000551.4(VHL):c.340+746dup rs2125126052
NM_000551.4(VHL):c.340+747G>A rs2125126053
NM_000551.4(VHL):c.340+748G>A rs2125126056
NM_000551.4(VHL):c.340+750G>C rs751861959
NM_000551.4(VHL):c.340+751G>C
NM_000551.4(VHL):c.340+751G>T rs1696162976
NM_000551.4(VHL):c.340+753G>A rs2125126065
NM_000551.4(VHL):c.340+753G>C rs2125126065
NM_000551.4(VHL):c.340+753dup rs2125126061
NM_000551.4(VHL):c.340+754T>A
NM_000551.4(VHL):c.340+754T>C rs1696163085
NM_000551.4(VHL):c.340+755T>A rs1696163129
NM_000551.4(VHL):c.340+755del
NM_000551.4(VHL):c.340+756G>C rs1696163184
NM_000551.4(VHL):c.340+756G>T rs1696163184
NM_000551.4(VHL):c.340+757dup
NM_000551.4(VHL):c.340+758G>A rs2125126071
NM_000551.4(VHL):c.340+759G>A
NM_000551.4(VHL):c.340+760T>C rs1696163288
NM_000551.4(VHL):c.340+761T>C
NM_000551.4(VHL):c.340+762G>A rs1696163332
NM_000551.4(VHL):c.340+763T>C rs1696163399
NM_000551.4(VHL):c.340+766G>A
NM_000551.4(VHL):c.340+767G>A
NM_000551.4(VHL):c.340+767G>C rs1696163478
NM_000551.4(VHL):c.340+770T>A rs1346312258
NM_000551.4(VHL):c.340+771C>T
NM_000551.4(VHL):c.340+777A>G rs2125126081
NM_000551.4(VHL):c.340+779G>A rs1696163737
NM_000551.4(VHL):c.340+779G>C rs1696163737
NM_000551.4(VHL):c.340+781G>A rs2125126088
NM_000551.4(VHL):c.340+784C>T rs1696163787
NM_000551.4(VHL):c.340+787C>A rs2125126091
NM_000551.4(VHL):c.340+787C>T rs2125126091
NM_000551.4(VHL):c.340+788C>G rs1282958900
NM_000551.4(VHL):c.340+789C>T rs1241756327
NM_000551.4(VHL):c.340+789del
NM_000551.4(VHL):c.340+790G>T rs527534541
NM_000551.4(VHL):c.340+793G>A rs2125126106
NM_000551.4(VHL):c.340+795A>G rs1696164115
NM_000551.4(VHL):c.340+795del
NM_000551.4(VHL):c.340+796G>A
NM_000551.4(VHL):c.340+797G>C rs1696164222
NM_000551.4(VHL):c.340+797G>T rs1696164222
NM_000551.4(VHL):c.340+798A>C
NM_000551.4(VHL):c.340+799A>C
NM_000551.4(VHL):c.340+799AG[2] rs1312220751
NM_000551.4(VHL):c.340+802G>C
NM_000551.4(VHL):c.340+803A>G rs2125126112
NM_000551.4(VHL):c.340+804G>C rs1696164389
NM_000551.4(VHL):c.340+806A>G
NM_000551.4(VHL):c.340+806A>T rs1696164489
NM_000551.4(VHL):c.340+808G>A rs1696164529
NM_000551.4(VHL):c.340+808G>C
NM_000551.4(VHL):c.340+808_340+809dup rs2125126119
NM_000551.4(VHL):c.340+809A>T rs1377166151
NM_000551.4(VHL):c.340+811G>A rs1174101376
NM_000551.4(VHL):c.340+811G>C rs1174101376
NM_000551.4(VHL):c.340+813A>G
NM_000551.4(VHL):c.340+813A>T rs2125126124
NM_000551.4(VHL):c.340+814G>A rs1696164726
NM_000551.4(VHL):c.340+814G>T rs1696164726
NM_000551.4(VHL):c.340+815T>G
NM_000551.4(VHL):c.340+815dup
NM_000551.4(VHL):c.340+816A>G rs1031288121
NM_000551.4(VHL):c.340+818G>A rs960959316
NM_000551.4(VHL):c.340+818G>C
NM_000551.4(VHL):c.340+819A>G rs1696164925
NM_000551.4(VHL):c.340+821C>G rs552399136
NM_000551.4(VHL):c.340+821C>T
NM_000551.4(VHL):c.340+822T>G rs2125126133
NM_000551.4(VHL):c.340+824G>A rs1349420435
NM_000551.4(VHL):c.340+825C>A rs1156980093
NM_000551.4(VHL):c.340+825C>G rs1156980093
NM_000551.4(VHL):c.340+825_340+834del rs2125126131
NM_000551.4(VHL):c.340+826C>T rs2125126135
NM_000551.4(VHL):c.340+827A>G rs2125126136
NM_000551.4(VHL):c.340+828A>T rs570619659
NM_000551.4(VHL):c.340+830C>G rs1696165307
NM_000551.4(VHL):c.340+830C>T rs1696165307
NM_000551.4(VHL):c.340+831C>A rs1696165357
NM_000551.4(VHL):c.340+831C>G rs1696165357
NM_000551.4(VHL):c.340+831C>T rs1696165357
NM_000551.4(VHL):c.340+832T>C rs1696165411
NM_000551.4(VHL):c.340+832T>G rs1696165411
NM_000551.4(VHL):c.340+833A>G
NM_000551.4(VHL):c.340+833A>T rs2125126148
NM_000551.4(VHL):c.340+834G>C
NM_000551.4(VHL):c.340+835G>A
NM_000551.4(VHL):c.340+837A>T rs190906863
NM_000551.4(VHL):c.340+855G>C
NM_000551.4(VHL):c.340+944_340+945dup rs35658375
NM_000551.4(VHL):c.340+945dup rs35658375
NM_000551.4(VHL):c.340+994_*2333del
NM_000551.4(VHL):c.341-11T>A rs2125128187
NM_000551.4(VHL):c.341-11T>G rs2125128187
NM_000551.4(VHL):c.341-12T>C
NM_000551.4(VHL):c.341-1382_*3401del
NM_000551.4(VHL):c.341-1406_*3377del
NM_000551.4(VHL):c.341-14G>A rs1696259908
NM_000551.4(VHL):c.341-1583_464-1477del
NM_000551.4(VHL):c.341-15T>C rs2125128176
NM_000551.4(VHL):c.341-1857_464-1328del
NM_000551.4(VHL):c.341-186del rs35286098
NM_000551.4(VHL):c.341-18C>T
NM_000551.4(VHL):c.341-1G>A rs1575927648
NM_000551.4(VHL):c.341-1G>T
NM_000551.4(VHL):c.341-1_342dup rs1696260542
NM_000551.4(VHL):c.341-20A>G
NM_000551.4(VHL):c.341-21_341-17del rs869025639
NM_000551.4(VHL):c.341-21_341-19del rs779747717
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.341-323G>T rs1403095642
NM_000551.4(VHL):c.341-324dup rs367615363
NM_000551.4(VHL):c.341-328_341-324dup rs367615363
NM_000551.4(VHL):c.341-36G>T
NM_000551.4(VHL):c.341-3T>G rs1131690965
NM_000551.4(VHL):c.341-48G>T rs2125128116
NM_000551.4(VHL):c.341-49_*2815del
NM_000551.4(VHL):c.341-4A>T rs1559428033
NM_000551.4(VHL):c.341-50G>A
NM_000551.4(VHL):c.341-5G>A rs372340900
NM_000551.4(VHL):c.341-5G>C
NM_000551.4(VHL):c.341-5G>T rs372340900
NM_000551.4(VHL):c.341-5_341-4delinsTT
NM_000551.4(VHL):c.341-5del rs2125128198
NM_000551.4(VHL):c.341-62G>T rs181985090
NM_000551.4(VHL):c.341-6C>A
NM_000551.4(VHL):c.341-6C>G rs191201783
NM_000551.4(VHL):c.341-7C>T rs1308495590
NM_000551.4(VHL):c.341-8C>T rs1272767361
NM_000551.4(VHL):c.341-929_*3191del
NM_000551.4(VHL):c.341-951_464-1018del
NM_000551.4(VHL):c.341G>T (p.Gly114Val)
NM_000551.4(VHL):c.343C>A (p.His115Asn)
NM_000551.4(VHL):c.343C>T (p.His115Tyr)
NM_000551.4(VHL):c.344A>C (p.His115Pro) rs5030812
NM_000551.4(VHL):c.344A>G (p.His115Arg) rs5030812
NM_000551.4(VHL):c.345C>A (p.His115Gln) rs864622646
NM_000551.4(VHL):c.345C>G (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.347T>G (p.Leu116Arg) rs879254230
NM_000551.4(VHL):c.349T>C (p.Trp117Arg)
NM_000551.4(VHL):c.349T>G (p.Trp117Gly) rs1696261074
NM_000551.4(VHL):c.350G>A (p.Trp117Ter) rs1559428056
NM_000551.4(VHL):c.350G>C (p.Trp117Ser)
NM_000551.4(VHL):c.351G>A (p.Trp117Ter)
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>C (p.Leu118Pro) rs5030830
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.356T>G (p.Phe119Cys) rs2125128254
NM_000551.4(VHL):c.356_357insGG (p.Phe119fs) rs1131691526
NM_000551.4(VHL):c.357C>A (p.Phe119Leu)
NM_000551.4(VHL):c.357C>G (p.Phe119Leu) rs1559428077
NM_000551.4(VHL):c.357C>T (p.Phe119=) rs1559428077
NM_000551.4(VHL):c.358A>G (p.Arg120Gly) rs869025642
NM_000551.4(VHL):c.358del (p.Arg120fs) rs1131690956
NM_000551.4(VHL):c.361G>A (p.Asp121Asn)
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.363del (p.Asp121fs) rs2125128271
NM_000551.4(VHL):c.363dup (p.Ala122fs) rs1575927767
NM_000551.4(VHL):c.364G>A (p.Ala122Thr) rs1064793291
NM_000551.4(VHL):c.364G>T (p.Ala122Ser) rs1064793291
NM_000551.4(VHL):c.365C>A (p.Ala122Glu)
NM_000551.4(VHL):c.365C>G (p.Ala122Gly) rs1696261924
NM_000551.4(VHL):c.365C>T (p.Ala122Val) rs1696261924
NM_000551.4(VHL):c.366A>C (p.Ala122=) rs1474241640
NM_000551.4(VHL):c.366A>G (p.Ala122=) rs1474241640
NM_000551.4(VHL):c.370A>G (p.Thr124Ala) rs1559428091
NM_000551.4(VHL):c.371C>T (p.Thr124Ile) rs193922610
NM_000551.4(VHL):c.372_375del (p.His125fs)
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.376G>C (p.Asp126His) rs104893831
NM_000551.4(VHL):c.376G>T (p.Asp126Tyr) rs104893831
NM_000551.4(VHL):c.376_382delinsAA (p.Asp126fs) rs1696262643
NM_000551.4(VHL):c.377_379dup (p.Asp126dup) rs1696262591
NM_000551.4(VHL):c.377del (p.Asp126fs) rs1553619952
NM_000551.4(VHL):c.378T>G (p.Asp126Glu) rs764053615
NM_000551.4(VHL):c.379_380insCAG (p.Asp126_Gly127insAla) rs1559428103
NM_000551.4(VHL):c.381_382delinsTT (p.Leu128Phe) rs869025645
NM_000551.4(VHL):c.381del (p.Leu128fs) rs1559428107
NM_000551.4(VHL):c.382C>T (p.Leu128Phe) rs1553619956
NM_000551.4(VHL):c.382_388del (p.Leu129fs)
NM_000551.4(VHL):c.383T>C (p.Leu128Pro) rs2125128327
NM_000551.4(VHL):c.385C>G (p.Leu129Val) rs369018004
NM_000551.4(VHL):c.386T>C (p.Leu129Pro) rs1559428119
NM_000551.4(VHL):c.387G>A (p.Leu129=)
NM_000551.4(VHL):c.387G>C (p.Leu129=) rs778846471
NM_000551.4(VHL):c.388G>A (p.Val130Ile)
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.388del (p.Val130fs) rs1553619957
NM_000551.4(VHL):c.390del (p.Asn131fs)
NM_000551.4(VHL):c.391A>G (p.Asn131Asp)
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.393C>T (p.Asn131=)
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.397A>C (p.Thr133Pro) rs1131690961
NM_000551.4(VHL):c.397del (p.Thr133fs) rs1559428134
NM_000551.4(VHL):c.398C>G (p.Thr133Ser)
NM_000551.4(VHL):c.398C>T (p.Thr133Ile) rs1060503565
NM_000551.4(VHL):c.400G>T (p.Glu134Ter) rs2125128363
NM_000551.4(VHL):c.402A>G (p.Glu134=) rs201482330
NM_000551.4(VHL):c.402_428del (p.Glu134_Val142del)
NM_000551.4(VHL):c.402del (p.Glu134fs) rs869025646
NM_000551.4(VHL):c.405A>C (p.Leu135Phe) rs119103278
NM_000551.4(VHL):c.406T>C (p.Phe136Leu)
NM_000551.4(VHL):c.406T>G (p.Phe136Val)
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.408dup (p.Val137fs)
NM_000551.4(VHL):c.409G>A (p.Val137Met)
NM_000551.4(VHL):c.411G>C (p.Val137=) rs1553619969
NM_000551.4(VHL):c.413del (p.Pro138fs) rs1559428164
NM_000551.4(VHL):c.414A>G (p.Pro138=) rs869025648
NM_000551.4(VHL):c.415T>C (p.Ser139Pro) rs1696264596
NM_000551.4(VHL):c.416C>T (p.Ser139Phe) rs587780732
NM_000551.4(VHL):c.417T>G (p.Ser139=) rs1406004337
NM_000551.4(VHL):c.418C>G (p.Leu140Val) rs768637170
NM_000551.4(VHL):c.418C>T (p.Leu140Phe) rs768637170
NM_000551.4(VHL):c.418_419insA (p.Leu140fs) rs1131690955
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.420C>T (p.Leu140=) rs369465430
NM_000551.4(VHL):c.421A>C (p.Asn141His) rs1696265107
NM_000551.4(VHL):c.421A>G (p.Asn141Asp) rs1696265107
NM_000551.4(VHL):c.422A>G (p.Asn141Ser) rs1064796570
NM_000551.4(VHL):c.422dup (p.Asn141fs) rs1553619976
NM_000551.4(VHL):c.425T>C (p.Val142Ala) rs1553619979
NM_000551.4(VHL):c.425T>G (p.Val142Gly)
NM_000551.4(VHL):c.426del (p.Asp143fs)
NM_000551.4(VHL):c.429C>G (p.Asp143Glu) rs773556807
NM_000551.4(VHL):c.430G>A (p.Gly144Arg) rs869025650
NM_000551.4(VHL):c.430G>C (p.Gly144Arg) rs869025650
NM_000551.4(VHL):c.430G>T (p.Gly144Ter) rs869025650
NM_000551.4(VHL):c.431G>A (p.Gly144Glu) rs2125128440
NM_000551.4(VHL):c.431del (p.Gly144fs) rs869025651
NM_000551.4(VHL):c.432A>G (p.Gly144=) rs1575928044
NM_000551.4(VHL):c.432A>T (p.Gly144=)
NM_000551.4(VHL):c.433C>A (p.Gln145Lys) rs749704215
NM_000551.4(VHL):c.433C>G (p.Gln145Glu) rs749704215
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.434A>G (p.Gln145Arg)
NM_000551.4(VHL):c.434A>T (p.Gln145Leu) rs864622313
NM_000551.4(VHL):c.435G>A (p.Gln145=)
NM_000551.4(VHL):c.435G>C (p.Gln145His) rs771727849
NM_000551.4(VHL):c.435_436del (p.Gln145fs) rs869025652
NM_000551.4(VHL):c.437C>G (p.Pro146Arg)
NM_000551.4(VHL):c.437C>T (p.Pro146Leu) rs1575928079
NM_000551.4(VHL):c.439A>T (p.Ile147Phe)
NM_000551.4(VHL):c.442T>G (p.Phe148Val)
NM_000551.4(VHL):c.444T>C (p.Phe148=)
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.446C>T (p.Ala149Val) rs1696266503
NM_000551.4(VHL):c.447C>T (p.Ala149=) rs2125128479
NM_000551.4(VHL):c.448A>C (p.Asn150His)
NM_000551.4(VHL):c.448A>G (p.Asn150Asp)
NM_000551.4(VHL):c.448_449del (p.Asn150fs) rs1696266605
NM_000551.4(VHL):c.449A>G (p.Asn150Ser) rs760184234
NM_000551.4(VHL):c.449del (p.Asn150fs) rs794727253
NM_000551.4(VHL):c.450T>C (p.Asn150=)
NM_000551.4(VHL):c.451A>C (p.Ile151Leu) rs876659313
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.454A>C (p.Thr152Pro) rs1696267007
NM_000551.4(VHL):c.454_463+17del rs869025656
NM_000551.4(VHL):c.455C>T (p.Thr152Ile)
NM_000551.4(VHL):c.456A>G (p.Thr152=)
NM_000551.4(VHL):c.457C>T (p.Leu153=) rs2125128512
NM_000551.4(VHL):c.458T>A (p.Leu153Gln) rs193922611
NM_000551.4(VHL):c.459G>A (p.Leu153=) rs1382653522
NM_000551.4(VHL):c.459G>T (p.Leu153=)
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.461C>G (p.Pro154Arg) rs1399097617
NM_000551.4(VHL):c.461C>T (p.Pro154Leu) rs1399097617
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+1008_*2803del
NM_000551.4(VHL):c.463+13T>G
NM_000551.4(VHL):c.463+14A>C
NM_000551.4(VHL):c.463+15C>A
NM_000551.4(VHL):c.463+16T>G rs2125128572
NM_000551.4(VHL):c.463+18T>A
NM_000551.4(VHL):c.463+1G>A rs869025657
NM_000551.4(VHL):c.463+1G>C rs869025657
NM_000551.4(VHL):c.463+1G>T rs869025657
NM_000551.4(VHL):c.463+20dup
NM_000551.4(VHL):c.463+21A>G rs1696268316
NM_000551.4(VHL):c.463+2T>C rs5030814
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>C rs1131690954
NM_000551.4(VHL):c.463+3A>G rs1131690954
NM_000551.4(VHL):c.463+439_*991del
NM_000551.4(VHL):c.463+4C>G
NM_000551.4(VHL):c.463+5T>G rs1003364563
NM_000551.4(VHL):c.463+9G>A rs1057522720
NM_000551.4(VHL):c.463+9G>T
NM_000551.4(VHL):c.463G>A (p.Val155Met) rs869025659
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.464-1013G>C
NM_000551.4(VHL):c.464-117del rs193922612
NM_000551.4(VHL):c.464-1226_*2771del
NM_000551.4(VHL):c.464-12T>C rs746646171
NM_000551.4(VHL):c.464-16G>A
NM_000551.4(VHL):c.464-16G>C
NM_000551.4(VHL):c.464-16G>T rs1453921703
NM_000551.4(VHL):c.464-17G>C
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.464-252C>G rs1703153
NM_000551.4(VHL):c.464-2A>C
NM_000551.4(VHL):c.464-2A>G rs5030816
NM_000551.4(VHL):c.464-30C>T rs2125130407
NM_000551.4(VHL):c.464-3C>A rs904414377
NM_000551.4(VHL):c.464-6T>A
NM_000551.4(VHL):c.464-6T>G
NM_000551.4(VHL):c.464-7C>A
NM_000551.4(VHL):c.464-7C>T
NM_000551.4(VHL):c.464-7_464-3del
NM_000551.4(VHL):c.464-9C>A
NM_000551.4(VHL):c.464-9C>T rs1238907068
NM_000551.4(VHL):c.464T>C (p.Val155Ala)
NM_000551.4(VHL):c.464T>G (p.Val155Gly)
NM_000551.4(VHL):c.465G>T (p.Val155=) rs1696354036
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.472C>G (p.Leu158Val) rs1559429613
NM_000551.4(VHL):c.473T>A (p.Leu158Gln) rs121913346
NM_000551.4(VHL):c.473T>C (p.Leu158Pro) rs121913346
NM_000551.4(VHL):c.474G>T (p.Leu158=) rs1575932005
NM_000551.4(VHL):c.474_476delinsC (p.Lys159fs) rs1553620305
NM_000551.4(VHL):c.475A>G (p.Lys159Glu) rs1575932011
NM_000551.4(VHL):c.475A>T (p.Lys159Ter) rs1575932011
NM_000551.4(VHL):c.477A>G (p.Lys159=) rs1696354920
NM_000551.4(VHL):c.477_478insTCA (p.Lys159_Glu160insSer)
NM_000551.4(VHL):c.477del (p.Glu160fs) rs730882020
NM_000551.4(VHL):c.477dup (p.Glu160fs) rs730882020
NM_000551.4(VHL):c.478G>A (p.Glu160Lys)
NM_000551.4(VHL):c.478G>C (p.Glu160Gln) rs1696354965
NM_000551.4(VHL):c.479A>T (p.Glu160Val) rs864321641
NM_000551.4(VHL):c.480G>A (p.Glu160=)
NM_000551.4(VHL):c.481C>G (p.Arg161Gly) rs5030818
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.482G>C (p.Arg161Pro)
NM_000551.4(VHL):c.482_486del (p.Arg161fs) rs1064794037
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.485_486delinsTT (p.Cys162Phe)
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.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.488T>G (p.Leu163Arg) rs28940297
NM_000551.4(VHL):c.489C>G (p.Leu163=) rs1575932067
NM_000551.4(VHL):c.490C>A (p.Gln164Lys) rs5030819
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.493G>A (p.Val165Ile)
NM_000551.4(VHL):c.493G>T (p.Val165Phe) rs1575932103
NM_000551.4(VHL):c.493del (p.Val165fs)
NM_000551.4(VHL):c.494T>G (p.Val165Gly) rs1575932110
NM_000551.4(VHL):c.495T>A (p.Val165=)
NM_000551.4(VHL):c.496G>A (p.Val166Ile) rs104893825
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.498C>T (p.Val166=) rs2125130531
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.500G>T (p.Arg167Leu) rs5030821
NM_000551.4(VHL):c.501G>C (p.Arg167=) rs1461479062
NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs) rs398123483
NM_000551.4(VHL):c.503G>A (p.Ser168Asn)
NM_000551.4(VHL):c.504C>T (p.Ser168=) rs1553620323
NM_000551.4(VHL):c.504_519del (p.Ser168fs) rs2125130543
NM_000551.4(VHL):c.505C>G (p.Leu169Val)
NM_000551.4(VHL):c.505dup (p.Leu169fs) rs1696357569
NM_000551.4(VHL):c.506T>C (p.Leu169Pro) rs1131690962
NM_000551.4(VHL):c.506del (p.Leu169fs)
NM_000551.4(VHL):c.507A>G (p.Leu169=)
NM_000551.4(VHL):c.508G>A (p.Val170Ile) rs1553620326
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.510C>A (p.Val170=)
NM_000551.4(VHL):c.510C>G (p.Val170=)
NM_000551.4(VHL):c.510C>T (p.Val170=)
NM_000551.4(VHL):c.511A>G (p.Lys171Glu)
NM_000551.4(VHL):c.512A>G (p.Lys171Arg) rs1696358528
NM_000551.4(VHL):c.513G>C (p.Lys171Asn) rs1365445365
NM_000551.4(VHL):c.514C>T (p.Pro172Ser)
NM_000551.4(VHL):c.515C>G (p.Pro172Arg)
NM_000551.4(VHL):c.515C>T (p.Pro172Leu)
NM_000551.4(VHL):c.516T>G (p.Pro172=) rs1575932227
NM_000551.4(VHL):c.517G>C (p.Glu173Gln)
NM_000551.4(VHL):c.517G>T (p.Glu173Ter) rs1575932228
NM_000551.4(VHL):c.519G>A (p.Glu173=)
NM_000551.4(VHL):c.519G>C (p.Glu173Asp) rs1696359154
NM_000551.4(VHL):c.520A>T (p.Asn174Tyr) rs1060503566
NM_000551.4(VHL):c.521A>G (p.Asn174Ser) rs1575932235
NM_000551.4(VHL):c.522T>C (p.Asn174=) rs1057523911
NM_000551.4(VHL):c.524A>G (p.Tyr175Cys) rs193922613
NM_000551.4(VHL):c.524A>T (p.Tyr175Phe) rs193922613
NM_000551.4(VHL):c.524_527del (p.Asn174_Tyr175insTer)
NM_000551.4(VHL):c.524dup (p.Tyr175Ter)
NM_000551.4(VHL):c.525C>A (p.Tyr175Ter) rs5030835
NM_000551.4(VHL):c.525C>G (p.Tyr175Ter) rs5030835
NM_000551.4(VHL):c.525C>T (p.Tyr175=) 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.529_546dup (p.Arg182_Ser183insArgLeuAspIleValArg)
NM_000551.4(VHL):c.530G>C (p.Arg177Thr) rs1470394966
NM_000551.4(VHL):c.530_536del (p.Arg177fs) rs1575932266
NM_000551.4(VHL):c.531A>T (p.Arg177Ser) rs766088261
NM_000551.4(VHL):c.531_542delinsTC (p.Arg177fs) rs1553620331
NM_000551.4(VHL):c.532C>G (p.Leu178Val) rs755146587
NM_000551.4(VHL):c.532C>T (p.Leu178=) rs755146587
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.535G>A (p.Asp179Asn) rs767780451
NM_000551.4(VHL):c.535G>C (p.Asp179His) rs767780451
NM_000551.4(VHL):c.537C>T (p.Asp179=)
NM_000551.4(VHL):c.538A>C (p.Ile180Leu)
NM_000551.4(VHL):c.539T>G (p.Ile180Ser) rs1559429750
NM_000551.4(VHL):c.540C>G (p.Ile180Met) rs374927292
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.541G>C (p.Val181Leu)
NM_000551.4(VHL):c.542T>C (p.Val181Ala) rs1553620340
NM_000551.4(VHL):c.543dup (p.Arg182fs) rs1131690958
NM_000551.4(VHL):c.545G>A (p.Arg182Lys) rs749774529
NM_000551.4(VHL):c.545G>C (p.Arg182Thr) rs749774529
NM_000551.4(VHL):c.545G>T (p.Arg182Met) 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.548C>G (p.Ser183Trp) rs5030823
NM_000551.4(VHL):c.549G>T (p.Ser183=) rs193922614
NM_000551.4(VHL):c.550C>G (p.Leu184Val) rs1696361913
NM_000551.4(VHL):c.551T>C (p.Leu184Pro) rs1064793878
NM_000551.4(VHL):c.552C>G (p.Leu184=)
NM_000551.4(VHL):c.553T>C (p.Tyr185His) rs768390987
NM_000551.4(VHL):c.554A>T (p.Tyr185Phe)
NM_000551.4(VHL):c.555C>A (p.Tyr185Ter)
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.556G>C (p.Glu186Gln) rs367545984
NM_000551.4(VHL):c.556G>T (p.Glu186Ter) rs367545984
NM_000551.4(VHL):c.558A>C (p.Glu186Asp) rs587778744
NM_000551.4(VHL):c.558_560del (p.Glu186del) rs1559429813
NM_000551.4(VHL):c.562C>T (p.Leu188=)
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.568_570dup (p.Asp190dup) rs1559429840
NM_000551.4(VHL):c.569A>G (p.Asp190Gly) rs2125130719
NM_000551.4(VHL):c.570C>T (p.Asp190=) rs2125130723
NM_000551.4(VHL):c.571C>G (p.His191Asp) rs28940301
NM_000551.4(VHL):c.571C>T (p.His191Tyr)
NM_000551.4(VHL):c.572A>C (p.His191Pro) rs370050374
NM_000551.4(VHL):c.572A>G (p.His191Arg) rs370050374
NM_000551.4(VHL):c.573C>T (p.His191=)
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.575del (p.Pro192fs) rs2125130735
NM_000551.4(VHL):c.576A>C (p.Pro192=) rs1372952726
NM_000551.4(VHL):c.579T>A (p.Asn193Lys) rs1060503558
NM_000551.4(VHL):c.579T>C (p.Asn193=) rs1060503558
NM_000551.4(VHL):c.580G>A (p.Val194Met)
NM_000551.4(VHL):c.581T>G (p.Val194Gly) rs1131690963
NM_000551.4(VHL):c.582G>T (p.Val194=)
NM_000551.4(VHL):c.583C>T (p.Gln195Ter) rs5030825
NM_000551.4(VHL):c.584A>C (p.Gln195Pro)
NM_000551.4(VHL):c.584A>G (p.Gln195Arg)
NM_000551.4(VHL):c.585G>C (p.Gln195His) rs878854128
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>G (p.Lys196Glu) rs281860296
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.588A>G (p.Lys196=) rs935543450
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.589G>C (p.Asp197His) rs1064794951
NM_000551.4(VHL):c.591C>T (p.Asp197=) rs1575932584
NM_000551.4(VHL):c.592C>G (p.Leu198Val) rs1187217673
NM_000551.4(VHL):c.592C>T (p.Leu198=) rs1187217673
NM_000551.4(VHL):c.592_594del (p.Leu198del) rs2125130773
NM_000551.4(VHL):c.592_607del (p.Leu198fs)
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.594G>A (p.Leu198=) rs1575932599
NM_000551.4(VHL):c.595G>A (p.Glu199Lys) rs1325187978
NM_000551.4(VHL):c.596A>G (p.Glu199Gly) rs760690217
NM_000551.4(VHL):c.596A>T (p.Glu199Val) rs760690217
NM_000551.4(VHL):c.597G>A (p.Glu199=) rs1387975369
NM_000551.4(VHL):c.597del (p.Glu199fs)
NM_000551.4(VHL):c.599G>T (p.Arg200Leu) rs754016774
NM_000551.4(VHL):c.601C>T (p.Leu201=) rs786201557
NM_000551.4(VHL):c.602T>C (p.Leu201Pro) rs2125130793
NM_000551.4(VHL):c.603G>C (p.Leu201=)
NM_000551.4(VHL):c.606A>C (p.Thr202=) rs1575932637
NM_000551.4(VHL):c.606dup (p.Gln203fs) rs1696365502
NM_000551.4(VHL):c.607C>A (p.Gln203Lys) rs750711842
NM_000551.4(VHL):c.607C>T (p.Gln203Ter) rs750711842
NM_000551.4(VHL):c.607_608del (p.Gln203fs)
NM_000551.4(VHL):c.607_623del (p.Gln203fs)
NM_000551.4(VHL):c.609G>A (p.Gln203=)
NM_000551.4(VHL):c.610G>C (p.Glu204Gln) rs758853661
NM_000551.4(VHL):c.610G>T (p.Glu204Ter) rs758853661
NM_000551.4(VHL):c.613C>A (p.Arg205Ser) rs199926195
NM_000551.4(VHL):c.613C>G (p.Arg205Gly) rs199926195
NM_000551.4(VHL):c.613C>T (p.Arg205Cys) rs199926195
NM_000551.4(VHL):c.614G>C (p.Arg205Pro)
NM_000551.4(VHL):c.614G>T (p.Arg205Leu) rs777130107
NM_000551.4(VHL):c.614_615del (p.Arg205fs) rs730882030
NM_000551.4(VHL):c.615C>T (p.Arg205=)
NM_000551.4(VHL):c.616A>G (p.Ile206Val)
NM_000551.4(VHL):c.617_618delinsAG (p.Ile206Lys) rs1060503567
NM_000551.4(VHL):c.618T>C (p.Ile206=) rs1575932691
NM_000551.4(VHL):c.619G>A (p.Ala207Thr) rs1696366320
NM_000551.4(VHL):c.619_620delinsAA (p.Ala207Lys) rs2125130853
NM_000551.4(VHL):c.621A>T (p.Ala207=)
NM_000551.4(VHL):c.622C>T (p.His208Tyr) rs121913347
NM_000551.4(VHL):c.623A>G (p.His208Arg) rs1696366534
NM_000551.4(VHL):c.625C>G (p.Gln209Glu) rs1559429968
NM_000551.4(VHL):c.626A>G (p.Gln209Arg) rs770746627
NM_000551.4(VHL):c.627A>T (p.Gln209His) rs758494789
NM_000551.4(VHL):c.630G>A (p.Arg210=) rs1575932755
NM_000551.4(VHL):c.630del (p.Met211fs) rs2125130871
NM_000551.4(VHL):c.631A>T (p.Met211Leu)
NM_000551.4(VHL):c.632T>C (p.Met211Thr) rs1366708242
NM_000551.4(VHL):c.633G>A (p.Met211Ile)
NM_000551.4(VHL):c.634G>A (p.Gly212Arg) rs1553620389
NM_000551.4(VHL):c.636A>T (p.Gly212=)
NM_000551.4(VHL):c.638A>G (p.Asp213Gly) rs1553620394
NM_000551.4(VHL):c.639T>G (p.Asp213Glu)
NM_000551.4(VHL):c.639_642dup (p.Asp213_Ter214=) rs1696368069
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
NM_000551.4(VHL):c.[340+617C>G;340+648T>C]
NM_198156.3(VHL):c.341-3273del rs869025638

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