NM_000551.4(VHL):c.*1860A>G
|
rs458106
|
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|
NM_000551.4(VHL):c.*2975G>C
|
rs801913
|
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|
NM_000551.4(VHL):c.*3644_*3645insG
|
rs201632485
|
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|
NM_000551.4(VHL):c.*1023G>A
|
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|
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|
NM_000551.4(VHL):c.*294G>A
|
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|
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|
NM_000551.4(VHL):c.*1060C>T
|
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|
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|
NM_000551.4(VHL):c.*2548G>A
|
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|
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|
NM_000551.4(VHL):c.*2140C>T
|
rs140614750
|
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|
NM_000551.4(VHL):c.*1973_*1979del
|
rs149248243
|
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|
NM_000551.4(VHL):c.*2600T>A
|
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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.*3523T>G
|
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|
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|
NM_000551.4(VHL):c.*724T>G
|
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|
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|
NM_000551.4(VHL):c.*3352G>A
|
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|
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|
NM_000551.4(VHL):c.*1990G>A
|
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|
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|
NM_000551.4(VHL):c.*1787G>A
|
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|
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|
NM_000551.4(VHL):c.*2201G>A
|
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|
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|
NM_000551.4(VHL):c.*1222A>G
|
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|
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|
NM_000551.4(VHL):c.*3453A>G
|
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|
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|
NM_000551.4(VHL):c.*1759A>G
|
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|
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|
NM_000551.4(VHL):c.*713T>C
|
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|
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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
|
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|
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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
|
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|
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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
|
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|
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|
NM_000551.4(VHL):c.*3021T>C
|
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|
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|
NM_000551.4(VHL):c.*2594C>A
|
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|
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|
NM_000551.4(VHL):c.*3395C>T
|
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|
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|
NM_000551.4(VHL):c.*574T>C
|
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|
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|
NM_000551.4(VHL):c.*820A>G
|
rs182781943
|
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|
NM_000551.4(VHL):c.*1619T>C
|
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|
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|
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
|
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|
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|
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.*2543_*2546del
|
rs886057739
|
0.00063
|
NM_000551.4(VHL):c.463+8C>T
|
rs5030834
|
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|
NM_000551.4(VHL):c.*3617G>A
|
rs527601820
|
0.00043
|
NM_000551.4(VHL):c.*2854G>T
|
rs546347626
|
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|
NM_000551.4(VHL):c.*1721C>G
|
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|
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|
NM_000551.4(VHL):c.*3625T>A
|
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|
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|
NM_000551.4(VHL):c.*1172C>T
|
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|
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|
NM_000551.4(VHL):c.*3374G>A
|
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|
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|
NM_000551.4(VHL):c.*579G>C
|
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|
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|
NM_000551.4(VHL):c.*1371A>G
|
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|
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|
NM_000551.4(VHL):c.*1249G>A
|
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|
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|
NM_000551.4(VHL):c.*391C>T
|
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|
0.00022
|
NM_000551.4(VHL):c.*1680T>C
|
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|
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|
NM_000551.4(VHL):c.*2716G>A
|
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|
0.00018
|
NM_000551.4(VHL):c.*1513A>G
|
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|
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|
NM_000551.4(VHL):c.*392G>A
|
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|
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|
NM_000551.4(VHL):c.*2570C>T
|
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|
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|
NM_000551.4(VHL):c.*885T>G
|
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|
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|
NM_000551.4(VHL):c.*1207G>A
|
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|
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|
NM_000551.4(VHL):c.*1867A>G
|
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|
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|
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
|
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|
NM_000551.4(VHL):c.*70C>T
|
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|
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|
NM_000551.4(VHL):c.*1351G>A
|
rs905412506
|
0.00009
|
NM_000551.4(VHL):c.*1281A>G
|
rs886057717
|
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|
NM_000551.4(VHL):c.*432C>G
|
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|
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|
NM_000551.4(VHL):c.*635G>A
|
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|
0.00006
|
NM_000551.4(VHL):c.464-10G>A
|
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|
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|
NM_000551.4(VHL):c.*2464A>G
|
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|
0.00005
|
NM_000551.4(VHL):c.*1677C>T
|
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|
0.00004
|
NM_000551.4(VHL):c.*1878T>C
|
rs1454245545
|
0.00004
|
NM_000551.4(VHL):c.*2782C>G
|
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|
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|
NM_000551.4(VHL):c.*3307C>T
|
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|
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|
NM_000551.4(VHL):c.*876G>A
|
rs1037001327
|
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.*1452A>T
|
rs552760935
|
0.00002
|
NM_000551.4(VHL):c.*280A>G
|
rs886057705
|
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|
NM_000551.4(VHL):c.*303A>T
|
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|
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|
NM_000551.4(VHL):c.*3128G>A
|
rs886057751
|
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|
NM_000551.4(VHL):c.*3222A>G
|
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|
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|
NM_000551.4(VHL):c.*327G>A
|
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|
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|
NM_000551.4(VHL):c.*3616C>T
|
rs750516726
|
0.00002
|
NM_000551.4(VHL):c.439A>G (p.Ile147Val)
|
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|
0.00002
|
NM_000551.4(VHL):c.*1072C>T
|
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|
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|
NM_000551.4(VHL):c.*1852T>C
|
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|
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|
NM_000551.4(VHL):c.*2224A>G
|
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|
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.544A>G (p.Arg182Gly)
|
rs778205243
|
0.00001
|
NM_000551.4(VHL):c.599G>A (p.Arg200Gln)
|
rs754016774
|
0.00001
|
NM_000551.4(VHL):c.*1001T>C
|
rs1696395449
|
|
NM_000551.4(VHL):c.*1087G>A
|
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|
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NM_000551.4(VHL):c.*1114C>A
|
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|
|
NM_000551.4(VHL):c.*1181G>C
|
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|
|
NM_000551.4(VHL):c.*1301G>A
|
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|
|
NM_000551.4(VHL):c.*1330A>G
|
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|
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NM_000551.4(VHL):c.*1347C>A
|
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|
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|
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|
|
NM_000551.4(VHL):c.*1542C>A
|
rs1266903436
|
|
NM_000551.4(VHL):c.*1617G>T
|
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|
|
NM_000551.4(VHL):c.*1643C>A
|
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|
|
NM_000551.4(VHL):c.*1689A>G
|
rs1696413219
|
|
NM_000551.4(VHL):c.*1741G>T
|
rs886057724
|
|
NM_000551.4(VHL):c.*1780C>G
|
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|
|
NM_000551.4(VHL):c.*1782T>G
|
rs886057726
|
|
NM_000551.4(VHL):c.*1808A>G
|
rs886057727
|
|
NM_000551.4(VHL):c.*1887C>A
|
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|
|
NM_000551.4(VHL):c.*1913T>C
|
rs1696419066
|
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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
|
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|
|
NM_000551.4(VHL):c.*2738G>A
|
rs886057745
|
|
NM_000551.4(VHL):c.*275C>T
|
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|
|
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
|
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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.*816G>C
|
rs142396182
|
|
NM_000551.4(VHL):c.*923GTTTT[5]
|
rs544983652
|
|
NM_000551.4(VHL):c.341-5G>A
|
rs372340900
|
|