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Items: 1 to 20 of 1126

1.

rs1490033079 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G,T [Show Flanks]
    Chromosome:
    3:52644747 (GRCh38)
    3:52678763 (GRCh37)
    Canonical SPDI:
    NC_000003.12:52644746:C:G,NC_000003.12:52644746:C:T
    Gene:
    PBRM1 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,non_coding_transcript_variant
    Validated:
    by cluster
    HGVS:
    NC_000003.12:g.52644747C>G, NC_000003.12:g.52644747C>T, NC_000003.11:g.52678763C>G, NC_000003.11:g.52678763C>T, NG_032108.1:g.46104G>C, NG_032108.1:g.46104G>A, NM_181042.5:c.856G>C, NM_181042.5:c.856G>A, NM_181042.4:c.856G>C, NM_181042.4:c.856G>A, NM_181042.3:c.856G>C, NM_181042.3:c.856G>A, NM_181042.2:c.856G>C, NM_181042.2:c.856G>A, NM_181042.1:c.856G>C, NM_181042.1:c.856G>A, NM_018313.5:c.856G>C, NM_018313.5:c.856G>A, NM_018313.4:c.856G>C, NM_018313.4:c.856G>A, NM_001350077.2:c.910G>C, NM_001350077.2:c.910G>A, NM_001350077.1:c.910G>C, NM_001350077.1:c.910G>A, NM_001350078.2:c.919G>C, NM_001350078.2:c.919G>A, NM_001350078.1:c.919G>C, NM_001350078.1:c.919G>A, NM_001350074.2:c.919G>C, NM_001350074.2:c.919G>A, NM_001350074.1:c.919G>C, NM_001350074.1:c.919G>A, NM_001350076.2:c.919G>C, NM_001350076.2:c.919G>A, NM_001350076.1:c.919G>C, NM_001350076.1:c.919G>A, NM_001366071.2:c.919G>C, NM_001366071.2:c.919G>A, NM_001366071.1:c.919G>C, NM_001366071.1:c.919G>A, NM_001366074.2:c.907G>C, NM_001366074.2:c.907G>A, NM_001366074.1:c.907G>C, NM_001366074.1:c.907G>A, NM_001350079.2:c.919G>C, NM_001350079.2:c.919G>A, NM_001350079.1:c.919G>C, NM_001350079.1:c.919G>A, NM_001366070.2:c.919G>C, NM_001366070.2:c.919G>A, NM_001366070.1:c.919G>C, NM_001366070.1:c.919G>A, NM_001350075.2:c.856G>C, NM_001350075.2:c.856G>A, NM_001350075.1:c.856G>C, NM_001350075.1:c.856G>A, NM_001366072.2:c.919G>C, NM_001366072.2:c.919G>A, NM_001366072.1:c.919G>C, NM_001366072.1:c.919G>A, NM_001366073.2:c.910G>C, NM_001366073.2:c.910G>A, NM_001366073.1:c.910G>C, NM_001366073.1:c.910G>A, NM_001366075.2:c.919G>C, NM_001366075.2:c.919G>A, NM_001366075.1:c.919G>C, NM_001366075.1:c.919G>A, NM_001366076.2:c.910G>C, NM_001366076.2:c.910G>A, NM_001366076.1:c.910G>C, NM_001366076.1:c.910G>A, NM_001405603.1:c.856G>C, NM_001405603.1:c.856G>A, NM_001405600.1:c.910G>C, NM_001405600.1:c.910G>A, NM_001405552.1:c.958G>C, NM_001405552.1:c.958G>A, NM_001394867.1:c.856G>C, NM_001394867.1:c.856G>A, NM_001394869.1:c.856G>C, NM_001394869.1:c.856G>A, NM_001405594.1:c.856G>C, NM_001405594.1:c.856G>A, NM_001405567.1:c.856G>C, NM_001405567.1:c.856G>A, NM_001405622.1:c.919G>C, NM_001405622.1:c.919G>A, NM_001405588.1:c.856G>C, NM_001405588.1:c.856G>A, NM_001405607.1:c.856G>C, NM_001405607.1:c.856G>A, NM_001405583.1:c.856G>C, NM_001405583.1:c.856G>A, NM_001405637.1:c.874G>C, NM_001405637.1:c.874G>A, NM_001405601.1:c.856G>C, NM_001405601.1:c.856G>A, NM_001405557.1:c.856G>C, NM_001405557.1:c.856G>A, NM_001405561.1:c.856G>C, NM_001405561.1:c.856G>A, NM_001405598.1:c.883G>C, NM_001405598.1:c.883G>A, NR_175959.1:n.1033G>C, NR_175959.1:n.1033G>A, NM_001405570.1:c.856G>C, NM_001405570.1:c.856G>A, NM_001400470.1:c.856G>C, NM_001400470.1:c.856G>A, NM_001400472.1:c.856G>C, NM_001400472.1:c.856G>A, NM_001405589.1:c.856G>C, NM_001405589.1:c.856G>A, NM_001394868.1:c.856G>C, NM_001394868.1:c.856G>A, NM_001405629.1:c.856G>C, NM_001405629.1:c.856G>A, NM_001405641.1:c.856G>C, NM_001405641.1:c.856G>A, NM_001405579.1:c.856G>C, NM_001405579.1:c.856G>A, NM_001400479.1:c.856G>C, NM_001400479.1:c.856G>A, NM_001405630.1:c.856G>C, NM_001405630.1:c.856G>A, NM_001405590.1:c.856G>C, NM_001405590.1:c.856G>A, NM_001400475.1:c.856G>C, NM_001400475.1:c.856G>A, NM_001400474.1:c.856G>C, NM_001400474.1:c.856G>A, NM_001405575.1:c.856G>C, NM_001405575.1:c.856G>A, NM_001405632.1:c.856G>C, NM_001405632.1:c.856G>A, NR_174502.1:n.1036G>C, NR_174502.1:n.1036G>A, NM_001405553.1:c.919G>C, NM_001405553.1:c.919G>A, NM_001394870.1:c.910G>C, NM_001394870.1:c.910G>A, NM_001405574.1:c.910G>C, NM_001405574.1:c.910G>A, NM_001405623.1:c.856G>C, NM_001405623.1:c.856G>A, NM_001405554.1:c.964G>C, NM_001405554.1:c.964G>A, NM_001405559.1:c.856G>C, NM_001405559.1:c.856G>A, NM_001405639.1:c.856G>C, NM_001405639.1:c.856G>A, NM_001405596.1:c.-1127G>C, NM_001405596.1:c.-1127G>A, NM_001405604.1:c.856G>C, NM_001405604.1:c.856G>A, NM_001405558.1:c.856G>C, NM_001405558.1:c.856G>A, NM_001405635.1:c.856G>C, NM_001405635.1:c.856G>A, NM_001400471.1:c.856G>C, NM_001400471.1:c.856G>A, NM_001405606.1:c.856G>C, NM_001405606.1:c.856G>A, NM_001405638.1:c.856G>C, NM_001405638.1:c.856G>A, NM_001405577.1:c.856G>C, NM_001405577.1:c.856G>A, NM_001405571.1:c.856G>C, NM_001405571.1:c.856G>A, NM_001405626.1:c.856G>C, NM_001405626.1:c.856G>A, NM_001400487.1:c.856G>C, NM_001400487.1:c.856G>A, NM_001405593.1:c.856G>C, NM_001405593.1:c.856G>A, NM_001405591.1:c.910G>C, NM_001405591.1:c.910G>A, NM_001405640.1:c.856G>C, NM_001405640.1:c.856G>A, NM_001405568.1:c.883G>C, NM_001405568.1:c.883G>A, NM_001405581.1:c.856G>C, NM_001405581.1:c.856G>A, NM_001405569.1:c.883G>C, NM_001405569.1:c.883G>A, NM_001405625.1:c.-635G>C, NM_001405625.1:c.-635G>A, NM_001405564.1:c.883G>C, NM_001405564.1:c.883G>A, NM_001394871.1:c.856G>C, NM_001394871.1:c.856G>A, NM_001405643.1:c.856G>C, NM_001405643.1:c.856G>A, NM_001405584.1:c.856G>C, NM_001405584.1:c.856G>A, NM_001400473.1:c.856G>C, NM_001400473.1:c.856G>A, NM_001405628.1:c.856G>C, NM_001405628.1:c.856G>A, NM_001394873.1:c.856G>C, NM_001394873.1:c.856G>A, NM_001394872.1:c.856G>C, NM_001394872.1:c.856G>A, NM_001405631.1:c.856G>C, NM_001405631.1:c.856G>A, NM_001400481.1:c.856G>C, NM_001400481.1:c.856G>A, NM_001405578.1:c.856G>C, NM_001405578.1:c.856G>A, NM_001394874.1:c.856G>C, NM_001394874.1:c.856G>A, NM_001400501.1:c.856G>C, NM_001400501.1:c.856G>A, NM_001400500.1:c.856G>C, NM_001400500.1:c.856G>A, NM_001394876.1:c.856G>C, NM_001394876.1:c.856G>A, NM_001405586.1:c.883G>C, NM_001405586.1:c.883G>A, NM_001405595.1:c.787G>C, NM_001405595.1:c.787G>A, NM_001400484.1:c.856G>C, NM_001400484.1:c.856G>A, NM_001405633.1:c.856G>C, NM_001405633.1:c.856G>A, NM_001405565.1:c.856G>C, NM_001405565.1:c.856G>A, NM_001405566.1:c.-1127G>C, NM_001405566.1:c.-1127G>A, NM_001400490.1:c.856G>C, NM_001400490.1:c.856G>A, NM_001405634.1:c.856G>C, NM_001405634.1:c.856G>A, NM_001405592.1:c.856G>C, NM_001405592.1:c.856G>A, NM_001405599.1:c.856G>C, NM_001405599.1:c.856G>A, NM_001405582.1:c.856G>C, NM_001405582.1:c.856G>A, NM_001405597.1:c.739G>C, NM_001405597.1:c.739G>A, NM_001405636.1:c.883G>C, NM_001405636.1:c.883G>A, NM_001405556.1:c.856G>C, NM_001405556.1:c.856G>A, NM_001405587.1:c.712G>C, NM_001405587.1:c.712G>A, NM_001405585.1:c.856G>C, NM_001405585.1:c.856G>A, NM_001400496.1:c.856G>C, NM_001400496.1:c.856G>A, NM_001405627.1:c.856G>C, NM_001405627.1:c.856G>A, NM_001394877.1:c.856G>C, NM_001394877.1:c.856G>A, NM_001394875.1:c.856G>C, NM_001394875.1:c.856G>A, NM_001405624.1:c.856G>C, NM_001405624.1:c.856G>A, NM_001405563.1:c.856G>C, NM_001405563.1:c.856G>A, NM_001405572.1:c.856G>C, NM_001405572.1:c.856G>A, NM_001405573.1:c.670G>C, NM_001405573.1:c.670G>A, NM_001405580.1:c.883G>C, NM_001405580.1:c.883G>A, NM_001400504.1:c.856G>C, NM_001400504.1:c.856G>A, NM_001405605.1:c.856G>C, NM_001405605.1:c.856G>A, NM_001405576.1:c.856G>C, NM_001405576.1:c.856G>A, NM_001405602.1:c.856G>C, NM_001405602.1:c.856G>A, NM_001405560.1:c.757G>C, NM_001405560.1:c.757G>A, NM_001405642.1:c.757G>C, NM_001405642.1:c.757G>A, NM_001405555.1:c.856G>C, NM_001405555.1:c.856G>A, NM_001405609.1:c.856G>C, NM_001405609.1:c.856G>A, NM_001394879.1:c.856G>C, NM_001394879.1:c.856G>A, NM_001394878.1:c.820G>C, NM_001394878.1:c.820G>A, NM_001405612.1:c.856G>C, NM_001405612.1:c.856G>A, NM_001405610.1:c.856G>C, NM_001405610.1:c.856G>A, NM_001405608.1:c.-94G>C, NM_001405608.1:c.-94G>A, NM_001405611.1:c.856G>C, NM_001405611.1:c.856G>A, NM_001394881.1:c.856G>C, NM_001394881.1:c.856G>A, NM_001405616.1:c.856G>C, NM_001405616.1:c.856G>A, NM_001394880.1:c.919G>C, NM_001394880.1:c.919G>A, NM_001405614.1:c.856G>C, NM_001405614.1:c.856G>A, NM_001405615.1:c.856G>C, NM_001405615.1:c.856G>A, NM_001405613.1:c.856G>C, NM_001405613.1:c.856G>A, XM_011533900.4:c.919G>C, XM_011533900.4:c.919G>A, XM_011533900.3:c.919G>C, XM_011533900.3:c.919G>A, XM_011533900.2:c.919G>C, XM_011533900.2:c.919G>A, XM_011533900.1:c.919G>C, XM_011533900.1:c.919G>A, XM_011533902.4:c.919G>C, XM_011533902.4:c.919G>A, XM_011533902.3:c.919G>C, XM_011533902.3:c.919G>A, XM_011533902.2:c.919G>C, XM_011533902.2:c.919G>A, XM_011533902.1:c.919G>C, XM_011533902.1:c.919G>A, XM_011533903.4:c.919G>C, XM_011533903.4:c.919G>A, XM_011533903.3:c.919G>C, XM_011533903.3:c.919G>A, XM_011533903.2:c.919G>C, XM_011533903.2:c.919G>A, XM_011533903.1:c.919G>C, XM_011533903.1:c.919G>A, XM_005265280.4:c.856G>C, XM_005265280.4:c.856G>A, NM_018165.4:c.856G>C, NM_018165.4:c.856G>A, XM_017006734.3:c.907G>C, XM_017006734.3:c.907G>A, XM_017006734.2:c.907G>C, XM_017006734.2:c.907G>A, XM_017006734.1:c.907G>C, XM_017006734.1:c.907G>A, XM_017006741.3:c.919G>C, XM_017006741.3:c.919G>A, XM_017006741.2:c.919G>C, XM_017006741.2:c.919G>A, XM_017006741.1:c.919G>C, XM_017006741.1:c.919G>A, NM_018165.3:c.856G>C, NM_018165.3:c.856G>A, XM_017006727.2:c.946G>C, XM_017006727.2:c.946G>A, XM_017006727.1:c.946G>C, XM_017006727.1:c.946G>A, XM_017006726.2:c.946G>C, XM_017006726.2:c.946G>A, XM_017006726.1:c.946G>C, XM_017006726.1:c.946G>A, XM_017006730.2:c.937G>C, XM_017006730.2:c.937G>A, XM_017006730.1:c.937G>C, XM_017006730.1:c.937G>A, XM_017006725.2:c.946G>C, XM_017006725.2:c.946G>A, XM_017006725.1:c.946G>C, XM_017006725.1:c.946G>A, XM_017006728.2:c.946G>C, XM_017006728.2:c.946G>A, XM_017006728.1:c.946G>C, XM_017006728.1:c.946G>A, XM_017006731.2:c.937G>C, XM_017006731.2:c.937G>A, XM_017006731.1:c.937G>C, XM_017006731.1:c.937G>A, XM_024453619.2:c.910G>C, XM_024453619.2:c.910G>A, XM_024453619.1:c.910G>C, XM_024453619.1:c.910G>A, XM_017006742.2:c.919G>C, XM_017006742.2:c.919G>A, XM_017006742.1:c.919G>C, XM_017006742.1:c.919G>A, XM_017006744.2:c.910G>C, XM_017006744.2:c.910G>A, XM_017006744.1:c.910G>C, XM_017006744.1:c.910G>A, NM_018165.2:c.856G>C, NM_018165.2:c.856G>A, XM_047448442.1:c.946G>C, XM_047448442.1:c.946G>A, XM_047448443.1:c.946G>C, XM_047448443.1:c.946G>A, XM_047448444.1:c.934G>C, XM_047448444.1:c.934G>A, XM_047448446.1:c.919G>C, XM_047448446.1:c.919G>A, XM_047448448.1:c.919G>C, XM_047448448.1:c.919G>A, XM_047448450.1:c.946G>C, XM_047448450.1:c.946G>A, XM_047448451.1:c.946G>C, XM_047448451.1:c.946G>A, XM_047448456.1:c.919G>C, XM_047448456.1:c.919G>A, XM_047448447.1:c.919G>C, XM_047448447.1:c.919G>A, XM_047448445.1:c.934G>C, XM_047448445.1:c.934G>A, XM_047448455.1:c.907G>C, XM_047448455.1:c.907G>A, XM_047448454.1:c.907G>C, XM_047448454.1:c.907G>A, XM_047448452.1:c.910G>C, XM_047448452.1:c.910G>A, XM_047448453.1:c.910G>C, XM_047448453.1:c.910G>A, XM_047448457.1:c.916G>C, XM_047448457.1:c.916G>A, XM_047448459.1:c.910G>C, XM_047448459.1:c.910G>A, XM_047448464.1:c.919G>C, XM_047448464.1:c.919G>A, XM_047448449.1:c.883G>C, XM_047448449.1:c.883G>A, XM_047448458.1:c.856G>C, XM_047448458.1:c.856G>A, XM_047448460.1:c.856G>C, XM_047448460.1:c.856G>A, XM_047448461.1:c.856G>C, XM_047448461.1:c.856G>A, XM_047448462.1:c.856G>C, XM_047448462.1:c.856G>A, XM_047448463.1:c.856G>C, XM_047448463.1:c.856G>A, XM_047448465.1:c.856G>C, XM_047448465.1:c.856G>A, NM_181041.1:c.856G>C, NM_181041.1:c.856G>A, NP_851385.1:p.Glu286Gln, NP_851385.1:p.Glu286Lys, NP_060783.3:p.Glu286Gln, NP_060783.3:p.Glu286Lys, NP_001337006.1:p.Glu304Gln, NP_001337006.1:p.Glu304Lys, NP_001337007.1:p.Glu307Gln, NP_001337007.1:p.Glu307Lys, NP_001337003.1:p.Glu307Gln, NP_001337003.1:p.Glu307Lys, NP_001337005.1:p.Glu307Gln, NP_001337005.1:p.Glu307Lys, NP_001353000.1:p.Glu307Gln, NP_001353000.1:p.Glu307Lys, NP_001353003.1:p.Glu303Gln, NP_001353003.1:p.Glu303Lys, NP_001337008.1:p.Glu307Gln, NP_001337008.1:p.Glu307Lys, NP_001352999.1:p.Glu307Gln, NP_001352999.1:p.Glu307Lys, NP_001337004.1:p.Glu286Gln, NP_001337004.1:p.Glu286Lys, NP_001353001.1:p.Glu307Gln, NP_001353001.1:p.Glu307Lys, NP_001353002.1:p.Glu304Gln, NP_001353002.1:p.Glu304Lys, NP_001353004.1:p.Glu307Gln, NP_001353004.1:p.Glu307Lys, NP_001353005.1:p.Glu304Gln, NP_001353005.1:p.Glu304Lys, NP_001381796.1:p.Glu286Gln, NP_001381796.1:p.Glu286Lys, NP_001381798.1:p.Glu286Gln, NP_001381798.1:p.Glu286Lys, NP_001387399.1:p.Glu286Gln, NP_001387399.1:p.Glu286Lys, NP_001387401.1:p.Glu286Gln, NP_001387401.1:p.Glu286Lys, NP_001381797.1:p.Glu286Gln, NP_001381797.1:p.Glu286Lys, NP_001387408.1:p.Glu286Gln, NP_001387408.1:p.Glu286Lys, NP_001387404.1:p.Glu286Gln, NP_001387404.1:p.Glu286Lys, NP_001387403.1:p.Glu286Gln, NP_001387403.1:p.Glu286Lys, NP_001381799.1:p.Glu304Gln, NP_001381799.1:p.Glu304Lys, NP_001387400.1:p.Glu286Gln, NP_001387400.1:p.Glu286Lys, NP_001387416.1:p.Glu286Gln, NP_001387416.1:p.Glu286Lys, NP_001381800.1:p.Glu286Gln, NP_001381800.1:p.Glu286Lys, NP_001387402.1:p.Glu286Gln, NP_001387402.1:p.Glu286Lys, NP_001381802.1:p.Glu286Gln, NP_001381802.1:p.Glu286Lys, NP_001381801.1:p.Glu286Gln, NP_001381801.1:p.Glu286Lys, NP_001387410.1:p.Glu286Gln, NP_001387410.1:p.Glu286Lys, NP_001381803.1:p.Glu286Gln, NP_001381803.1:p.Glu286Lys, NP_001387430.1:p.Glu286Gln, NP_001387430.1:p.Glu286Lys, NP_001387429.1:p.Glu286Gln, NP_001387429.1:p.Glu286Lys, NP_001381805.1:p.Glu286Gln, NP_001381805.1:p.Glu286Lys, NP_001387413.1:p.Glu286Gln, NP_001387413.1:p.Glu286Lys, NP_001387419.1:p.Glu286Gln, NP_001387419.1:p.Glu286Lys, NP_001387425.1:p.Glu286Gln, NP_001387425.1:p.Glu286Lys, NP_001381806.1:p.Glu286Gln, NP_001381806.1:p.Glu286Lys, NP_001381804.1:p.Glu286Gln, NP_001381804.1:p.Glu286Lys, NP_001387433.1:p.Glu286Gln, NP_001387433.1:p.Glu286Lys, NP_001381808.1:p.Glu286Gln, NP_001381808.1:p.Glu286Lys, NP_001381807.1:p.Glu274Gln, NP_001381807.1:p.Glu274Lys, NP_001381810.1:p.Glu286Gln, NP_001381810.1:p.Glu286Lys, NP_001381809.1:p.Glu307Gln, NP_001381809.1:p.Glu307Lys, XP_011532202.1:p.Glu307Gln, XP_011532202.1:p.Glu307Lys, XP_011532204.1:p.Glu307Gln, XP_011532204.1:p.Glu307Lys, XP_011532205.1:p.Glu307Gln, XP_011532205.1:p.Glu307Lys, XP_005265337.1:p.Glu286Gln, XP_005265337.1:p.Glu286Lys, XP_016862223.1:p.Glu303Gln, XP_016862223.1:p.Glu303Lys, XP_016862230.1:p.Glu307Gln, XP_016862230.1:p.Glu307Lys, XP_016862216.1:p.Glu316Gln, XP_016862216.1:p.Glu316Lys, XP_016862215.1:p.Glu316Gln, XP_016862215.1:p.Glu316Lys, XP_016862219.1:p.Glu313Gln, XP_016862219.1:p.Glu313Lys, XP_016862214.1:p.Glu316Gln, XP_016862214.1:p.Glu316Lys, XP_016862217.1:p.Glu316Gln, XP_016862217.1:p.Glu316Lys, XP_016862220.1:p.Glu313Gln, XP_016862220.1:p.Glu313Lys, XP_024309387.1:p.Glu304Gln, XP_024309387.1:p.Glu304Lys, XP_016862231.1:p.Glu307Gln, XP_016862231.1:p.Glu307Lys, XP_016862233.1:p.Glu304Gln, XP_016862233.1:p.Glu304Lys, XP_047304398.1:p.Glu316Gln, XP_047304398.1:p.Glu316Lys, XP_047304399.1:p.Glu316Gln, XP_047304399.1:p.Glu316Lys, XP_047304400.1:p.Glu312Gln, XP_047304400.1:p.Glu312Lys, XP_047304402.1:p.Glu307Gln, XP_047304402.1:p.Glu307Lys, XP_047304404.1:p.Glu307Gln, XP_047304404.1:p.Glu307Lys, XP_047304406.1:p.Glu316Gln, XP_047304406.1:p.Glu316Lys, XP_047304407.1:p.Glu316Gln, XP_047304407.1:p.Glu316Lys, XP_047304412.1:p.Glu307Gln, XP_047304412.1:p.Glu307Lys, XP_047304403.1:p.Glu307Gln, XP_047304403.1:p.Glu307Lys, XP_047304401.1:p.Glu312Gln, XP_047304401.1:p.Glu312Lys, XP_047304411.1:p.Glu303Gln, XP_047304411.1:p.Glu303Lys, XP_047304410.1:p.Glu303Gln, XP_047304410.1:p.Glu303Lys, XP_047304408.1:p.Glu304Gln, XP_047304408.1:p.Glu304Lys, XP_047304409.1:p.Glu304Gln, XP_047304409.1:p.Glu304Lys, XP_047304413.1:p.Glu306Gln, XP_047304413.1:p.Glu306Lys, XP_047304415.1:p.Glu304Gln, XP_047304415.1:p.Glu304Lys, XP_047304420.1:p.Glu307Gln, XP_047304420.1:p.Glu307Lys, XP_047304405.1:p.Glu295Gln, XP_047304405.1:p.Glu295Lys, XP_047304414.1:p.Glu286Gln, XP_047304414.1:p.Glu286Lys, XP_047304416.1:p.Glu286Gln, XP_047304416.1:p.Glu286Lys, XP_047304417.1:p.Glu286Gln, XP_047304417.1:p.Glu286Lys, XP_047304418.1:p.Glu286Gln, XP_047304418.1:p.Glu286Lys, XP_047304419.1:p.Glu286Gln, XP_047304419.1:p.Glu286Lys, XP_047304421.1:p.Glu286Gln, XP_047304421.1:p.Glu286Lys

    2.

    rs1489926088 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      3:52651748 (GRCh38)
      3:52685764 (GRCh37)
      Canonical SPDI:
      NC_000003.12:52651747:C:T
      Gene:
      PBRM1 (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      T=0.000011/3 (TOPMED)
      HGVS:
      NC_000003.12:g.52651748C>T, NC_000003.11:g.52685764C>T, NG_032108.1:g.39103G>A, NM_181042.5:c.708G>A, NM_181042.4:c.708G>A, NM_181042.3:c.708G>A, NM_181042.2:c.708G>A, NM_181042.1:c.708G>A, NM_018313.5:c.708G>A, NM_018313.4:c.708G>A, NM_001350077.2:c.762G>A, NM_001350077.1:c.762G>A, NM_001350078.2:c.771G>A, NM_001350078.1:c.771G>A, NM_001350074.2:c.771G>A, NM_001350074.1:c.771G>A, NM_001350076.2:c.771G>A, NM_001350076.1:c.771G>A, NM_001366071.2:c.771G>A, NM_001366071.1:c.771G>A, NM_001366074.2:c.759G>A, NM_001366074.1:c.759G>A, NM_001350079.2:c.771G>A, NM_001350079.1:c.771G>A, NM_001366070.2:c.771G>A, NM_001366070.1:c.771G>A, NM_001350075.2:c.708G>A, NM_001350075.1:c.708G>A, NM_001366072.2:c.771G>A, NM_001366072.1:c.771G>A, NM_001366073.2:c.762G>A, NM_001366073.1:c.762G>A, NM_001366075.2:c.771G>A, NM_001366075.1:c.771G>A, NM_001366076.2:c.762G>A, NM_001366076.1:c.762G>A, NM_001405603.1:c.708G>A, NM_001405600.1:c.762G>A, NM_001394867.1:c.708G>A, NM_001394869.1:c.708G>A, NM_001405594.1:c.708G>A, NM_001405567.1:c.708G>A, NM_001405622.1:c.771G>A, NM_001405588.1:c.708G>A, NM_001405607.1:c.708G>A, NM_001405583.1:c.708G>A, NM_001405637.1:c.726G>A, NM_001405601.1:c.708G>A, NM_001405557.1:c.708G>A, NM_001405561.1:c.708G>A, NM_001405598.1:c.735G>A, NR_175959.1:n.885G>A, NM_001405570.1:c.708G>A, NM_001400470.1:c.708G>A, NM_001400472.1:c.708G>A, NM_001405589.1:c.708G>A, NM_001394868.1:c.708G>A, NM_001405629.1:c.708G>A, NM_001405641.1:c.708G>A, NM_001405579.1:c.708G>A, NM_001400479.1:c.708G>A, NM_001405630.1:c.708G>A, NM_001405590.1:c.708G>A, NM_001400475.1:c.708G>A, NM_001400474.1:c.708G>A, NM_001405575.1:c.708G>A, NM_001405632.1:c.708G>A, NR_174502.1:n.888G>A, NM_001405553.1:c.771G>A, NM_001394870.1:c.762G>A, NM_001405574.1:c.762G>A, NM_001405623.1:c.708G>A, NM_001405554.1:c.708G>A, NM_001405559.1:c.708G>A, NM_001405639.1:c.708G>A, NM_001405596.1:c.-1275G>A, NM_001405604.1:c.708G>A, NM_001405558.1:c.708G>A, NM_001405635.1:c.708G>A, NM_001400471.1:c.708G>A, NM_001405606.1:c.708G>A, NM_001405638.1:c.708G>A, NM_001405577.1:c.708G>A, NM_001405571.1:c.708G>A, NM_001405626.1:c.708G>A, NM_001400487.1:c.708G>A, NM_001405593.1:c.708G>A, NM_001405591.1:c.762G>A, NM_001405640.1:c.708G>A, NM_001405568.1:c.735G>A, NM_001405581.1:c.708G>A, NM_001405569.1:c.735G>A, NM_001405625.1:c.-783G>A, NM_001405564.1:c.735G>A, NM_001394871.1:c.708G>A, NM_001405643.1:c.708G>A, NM_001405584.1:c.708G>A, NM_001400473.1:c.708G>A, NM_001405628.1:c.708G>A, NM_001394873.1:c.708G>A, NM_001394872.1:c.708G>A, NM_001405631.1:c.708G>A, NM_001400481.1:c.708G>A, NM_001405578.1:c.708G>A, NM_001394874.1:c.708G>A, NM_001400501.1:c.708G>A, NM_001400500.1:c.708G>A, NM_001394876.1:c.708G>A, NM_001405586.1:c.735G>A, NM_001400484.1:c.708G>A, NM_001405633.1:c.708G>A, NM_001405565.1:c.708G>A, NM_001405566.1:c.-1275G>A, NM_001400490.1:c.708G>A, NM_001405634.1:c.708G>A, NM_001405592.1:c.708G>A, NM_001405599.1:c.708G>A, NM_001405582.1:c.708G>A, NM_001405597.1:c.591G>A, NM_001405636.1:c.735G>A, NM_001405556.1:c.708G>A, NM_001405587.1:c.564G>A, NM_001405585.1:c.708G>A, NM_001400496.1:c.708G>A, NM_001405627.1:c.708G>A, NM_001394877.1:c.708G>A, NM_001394875.1:c.708G>A, NM_001405624.1:c.708G>A, NM_001405563.1:c.708G>A, NM_001405572.1:c.708G>A, NM_001405580.1:c.735G>A, NM_001400504.1:c.708G>A, NM_001405605.1:c.708G>A, NM_001405576.1:c.708G>A, NM_001405602.1:c.708G>A, NM_001405560.1:c.708G>A, NM_001405642.1:c.708G>A, NM_001405555.1:c.708G>A, NM_001405609.1:c.708G>A, NM_001394879.1:c.708G>A, NM_001394878.1:c.771G>A, NM_001405612.1:c.708G>A, NM_001405610.1:c.708G>A, NM_001405608.1:c.-242G>A, NM_001405611.1:c.708G>A, NM_001405621.1:c.771G>A, NM_001405620.1:c.708G>A, NM_001405618.1:c.708G>A, NM_001405619.1:c.771G>A, NM_001405617.1:c.708G>A, NM_001394881.1:c.708G>A, NM_001405616.1:c.708G>A, NM_001394880.1:c.771G>A, NM_001405614.1:c.708G>A, NM_001405615.1:c.708G>A, NM_001405613.1:c.708G>A, XM_011533900.4:c.771G>A, XM_011533900.3:c.771G>A, XM_011533900.2:c.771G>A, XM_011533900.1:c.771G>A, XM_011533902.4:c.771G>A, XM_011533902.3:c.771G>A, XM_011533902.2:c.771G>A, XM_011533902.1:c.771G>A, XM_011533903.4:c.771G>A, XM_011533903.3:c.771G>A, XM_011533903.2:c.771G>A, XM_011533903.1:c.771G>A, XM_005265280.4:c.708G>A, NM_018165.4:c.708G>A, XM_017006734.3:c.759G>A, XM_017006734.2:c.759G>A, XM_017006734.1:c.759G>A, XM_017006741.3:c.771G>A, XM_017006741.2:c.771G>A, XM_017006741.1:c.771G>A, NM_018165.3:c.708G>A, XM_017006727.2:c.798G>A, XM_017006727.1:c.798G>A, XM_017006726.2:c.798G>A, XM_017006726.1:c.798G>A, XM_017006730.2:c.789G>A, XM_017006730.1:c.789G>A, XM_017006725.2:c.798G>A, XM_017006725.1:c.798G>A, XM_017006728.2:c.798G>A, XM_017006728.1:c.798G>A, XM_017006731.2:c.789G>A, XM_017006731.1:c.789G>A, XM_024453619.2:c.762G>A, XM_024453619.1:c.762G>A, XM_017006742.2:c.771G>A, XM_017006742.1:c.771G>A, XM_017006744.2:c.762G>A, XM_017006744.1:c.762G>A, NM_018165.2:c.708G>A, XM_047448442.1:c.798G>A, XM_047448443.1:c.798G>A, XM_047448444.1:c.786G>A, XM_047448446.1:c.771G>A, XM_047448448.1:c.771G>A, XM_047448450.1:c.798G>A, XM_047448451.1:c.798G>A, XM_047448456.1:c.771G>A, XM_047448447.1:c.771G>A, XM_047448445.1:c.786G>A, XM_047448455.1:c.759G>A, XM_047448454.1:c.759G>A, XM_047448452.1:c.762G>A, XM_047448453.1:c.762G>A, XM_047448457.1:c.768G>A, XM_047448459.1:c.762G>A, XM_047448464.1:c.771G>A, XM_047448449.1:c.735G>A, XM_047448458.1:c.708G>A, XM_047448460.1:c.708G>A, XM_047448461.1:c.708G>A, XM_047448462.1:c.708G>A, XM_047448463.1:c.708G>A, XM_047448465.1:c.708G>A, NM_181041.1:c.708G>A

      3.

      rs1489476425 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        3:52609658 (GRCh38)
        3:52643674 (GRCh37)
        Canonical SPDI:
        NC_000003.12:52609657:G:A,NC_000003.12:52609657:G:C
        Gene:
        PBRM1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        HGVS:
        NC_000003.12:g.52609658G>A, NC_000003.12:g.52609658G>C, NC_000003.11:g.52643674G>A, NC_000003.11:g.52643674G>C, NG_032108.1:g.81193C>T, NG_032108.1:g.81193C>G, NM_181042.5:c.2222C>T, NM_181042.5:c.2222C>G, NM_181042.4:c.2222C>T, NM_181042.4:c.2222C>G, NM_181042.3:c.2222C>T, NM_181042.3:c.2222C>G, NM_181042.2:c.2222C>T, NM_181042.2:c.2222C>G, NM_181042.1:c.2222C>T, NM_181042.1:c.2222C>G, NM_018313.5:c.2222C>T, NM_018313.5:c.2222C>G, NM_018313.4:c.2222C>T, NM_018313.4:c.2222C>G, NM_001350077.2:c.2321C>T, NM_001350077.2:c.2321C>G, NM_001350077.1:c.2321C>T, NM_001350077.1:c.2321C>G, NM_001350078.2:c.2330C>T, NM_001350078.2:c.2330C>G, NM_001350078.1:c.2330C>T, NM_001350078.1:c.2330C>G, NM_001350074.2:c.2330C>T, NM_001350074.2:c.2330C>G, NM_001350074.1:c.2330C>T, NM_001350074.1:c.2330C>G, NM_001350076.2:c.2330C>T, NM_001350076.2:c.2330C>G, NM_001350076.1:c.2330C>T, NM_001350076.1:c.2330C>G, NM_001366071.2:c.2285C>T, NM_001366071.2:c.2285C>G, NM_001366071.1:c.2285C>T, NM_001366071.1:c.2285C>G, NM_001366074.2:c.2273C>T, NM_001366074.2:c.2273C>G, NM_001366074.1:c.2273C>T, NM_001366074.1:c.2273C>G, NM_001350079.2:c.2285C>T, NM_001350079.2:c.2285C>G, NM_001350079.1:c.2285C>T, NM_001350079.1:c.2285C>G, NM_001366070.2:c.2330C>T, NM_001366070.2:c.2330C>G, NM_001366070.1:c.2330C>T, NM_001366070.1:c.2330C>G, NM_001350075.2:c.2222C>T, NM_001350075.2:c.2222C>G, NM_001350075.1:c.2222C>T, NM_001350075.1:c.2222C>G, NM_001366072.2:c.2285C>T, NM_001366072.2:c.2285C>G, NM_001366072.1:c.2285C>T, NM_001366072.1:c.2285C>G, NM_001366073.2:c.2276C>T, NM_001366073.2:c.2276C>G, NM_001366073.1:c.2276C>T, NM_001366073.1:c.2276C>G, NM_001366075.2:c.2330C>T, NM_001366075.2:c.2330C>G, NM_001366075.1:c.2330C>T, NM_001366075.1:c.2330C>G, NM_001366076.2:c.2225C>T, NM_001366076.2:c.2225C>G, NM_001366076.1:c.2225C>T, NM_001366076.1:c.2225C>G, NM_001405603.1:c.2222C>T, NM_001405603.1:c.2222C>G, NM_001405600.1:c.2276C>T, NM_001405600.1:c.2276C>G, NM_001405552.1:c.2324C>T, NM_001405552.1:c.2324C>G, NM_001394867.1:c.2222C>T, NM_001394867.1:c.2222C>G, NM_001394869.1:c.2222C>T, NM_001394869.1:c.2222C>G, NM_001405594.1:c.2222C>T, NM_001405594.1:c.2222C>G, NM_001405567.1:c.2222C>T, NM_001405567.1:c.2222C>G, NM_001405622.1:c.2285C>T, NM_001405622.1:c.2285C>G, NM_001405588.1:c.2222C>T, NM_001405588.1:c.2222C>G, NM_001405607.1:c.2267C>T, NM_001405607.1:c.2267C>G, NM_001405583.1:c.2222C>T, NM_001405583.1:c.2222C>G, NM_001405637.1:c.2240C>T, NM_001405637.1:c.2240C>G, NM_001405601.1:c.2267C>T, NM_001405601.1:c.2267C>G, NM_001405557.1:c.2222C>T, NM_001405557.1:c.2222C>G, NM_001405561.1:c.2222C>T, NM_001405561.1:c.2222C>G, NM_001405598.1:c.2249C>T, NM_001405598.1:c.2249C>G, NR_175959.1:n.2444C>T, NR_175959.1:n.2444C>G, NM_001405570.1:c.2222C>T, NM_001405570.1:c.2222C>G, NM_001400470.1:c.2222C>T, NM_001400470.1:c.2222C>G, NM_001400472.1:c.2243C>T, NM_001400472.1:c.2243C>G, NM_001405589.1:c.2222C>T, NM_001405589.1:c.2222C>G, NM_001394868.1:c.2222C>T, NM_001394868.1:c.2222C>G, NM_001405629.1:c.2222C>T, NM_001405629.1:c.2222C>G, NM_001405641.1:c.2222C>T, NM_001405641.1:c.2222C>G, NM_001405579.1:c.2222C>T, NM_001405579.1:c.2222C>G, NM_001400479.1:c.2222C>T, NM_001400479.1:c.2222C>G, NM_001405630.1:c.2222C>T, NM_001405630.1:c.2222C>G, NM_001405590.1:c.2222C>T, NM_001405590.1:c.2222C>G, NM_001400475.1:c.2222C>T, NM_001400475.1:c.2222C>G, NM_001400474.1:c.2222C>T, NM_001400474.1:c.2222C>G, NM_001405575.1:c.2222C>T, NM_001405575.1:c.2222C>G, NM_001405632.1:c.2222C>T, NM_001405632.1:c.2222C>G, NR_174502.1:n.2402C>T, NR_174502.1:n.2402C>G, NM_001405553.1:c.2285C>T, NM_001405553.1:c.2285C>G, NM_001394870.1:c.2276C>T, NM_001394870.1:c.2276C>G, NM_001405574.1:c.2276C>T, NM_001405574.1:c.2276C>G, NM_001405623.1:c.2222C>T, NM_001405623.1:c.2222C>G, NM_001405554.1:c.2330C>T, NM_001405554.1:c.2330C>G, NM_001405559.1:c.2222C>T, NM_001405559.1:c.2222C>G, NM_001405639.1:c.2222C>T, NM_001405639.1:c.2222C>G, NM_001405596.1:c.314C>T, NM_001405596.1:c.314C>G, NM_001405604.1:c.2126C>T, NM_001405604.1:c.2126C>G, NM_001405558.1:c.2222C>T, NM_001405558.1:c.2222C>G, NM_001405635.1:c.2222C>T, NM_001405635.1:c.2222C>G, NM_001400471.1:c.2267C>T, NM_001400471.1:c.2267C>G, NM_001405606.1:c.2126C>T, NM_001405606.1:c.2126C>G, NM_001405638.1:c.2126C>T, NM_001405638.1:c.2126C>G, NM_001405577.1:c.2222C>T, NM_001405577.1:c.2222C>G, NM_001405571.1:c.2267C>T, NM_001405571.1:c.2267C>G, NM_001405626.1:c.2222C>T, NM_001405626.1:c.2222C>G, NM_001400487.1:c.2126C>T, NM_001400487.1:c.2126C>G, NM_001405593.1:c.2222C>T, NM_001405593.1:c.2222C>G, NM_001405591.1:c.2276C>T, NM_001405591.1:c.2276C>G, NM_001405640.1:c.2222C>T, NM_001405640.1:c.2222C>G, NM_001405568.1:c.2249C>T, NM_001405568.1:c.2249C>G, NM_001405581.1:c.2222C>T, NM_001405581.1:c.2222C>G, NM_001405569.1:c.2249C>T, NM_001405569.1:c.2249C>G, NM_001405625.1:c.584C>T, NM_001405625.1:c.584C>G, NM_001405564.1:c.2249C>T, NM_001405564.1:c.2249C>G, NM_001394871.1:c.2222C>T, NM_001394871.1:c.2222C>G, NM_001405643.1:c.2222C>T, NM_001405643.1:c.2222C>G, NM_001405584.1:c.2222C>T, NM_001405584.1:c.2222C>G, NM_001400473.1:c.2222C>T, NM_001400473.1:c.2222C>G, NM_001405628.1:c.2222C>T, NM_001405628.1:c.2222C>G, NM_001394873.1:c.2222C>T, NM_001394873.1:c.2222C>G, NM_001394872.1:c.2222C>T, NM_001394872.1:c.2222C>G, NM_001405631.1:c.2222C>T, NM_001405631.1:c.2222C>G, NM_001400481.1:c.2222C>T, NM_001400481.1:c.2222C>G, NM_001405578.1:c.2222C>T, NM_001405578.1:c.2222C>G, NM_001394874.1:c.2222C>T, NM_001394874.1:c.2222C>G, NM_001400501.1:c.2222C>T, NM_001400501.1:c.2222C>G, NM_001400500.1:c.2222C>T, NM_001400500.1:c.2222C>G, NM_001394876.1:c.2222C>T, NM_001394876.1:c.2222C>G, NM_001405586.1:c.2249C>T, NM_001405586.1:c.2249C>G, NM_001405595.1:c.2153C>T, NM_001405595.1:c.2153C>G, NM_001400484.1:c.2222C>T, NM_001400484.1:c.2222C>G, NM_001405633.1:c.2222C>T, NM_001405633.1:c.2222C>G, NM_001405565.1:c.2222C>T, NM_001405565.1:c.2222C>G, NM_001405566.1:c.314C>T, NM_001405566.1:c.314C>G, NM_001400490.1:c.2222C>T, NM_001400490.1:c.2222C>G, NM_001405634.1:c.2222C>T, NM_001405634.1:c.2222C>G, NM_001405592.1:c.2222C>T, NM_001405592.1:c.2222C>G, NM_001405599.1:c.2126C>T, NM_001405599.1:c.2126C>G, NM_001405582.1:c.2126C>T, NM_001405582.1:c.2126C>G, NM_001405597.1:c.2105C>T, NM_001405597.1:c.2105C>G, NM_001405636.1:c.2249C>T, NM_001405636.1:c.2249C>G, NM_001405556.1:c.2222C>T, NM_001405556.1:c.2222C>G, NM_001405587.1:c.2078C>T, NM_001405587.1:c.2078C>G, NM_001405585.1:c.2222C>T, NM_001405585.1:c.2222C>G, NM_001400496.1:c.2222C>T, NM_001400496.1:c.2222C>G, NM_001405627.1:c.2222C>T, NM_001405627.1:c.2222C>G, NM_001394877.1:c.2222C>T, NM_001394877.1:c.2222C>G, NM_001394875.1:c.2222C>T, NM_001394875.1:c.2222C>G, NM_001405624.1:c.2222C>T, NM_001405624.1:c.2222C>G, NM_001405563.1:c.2222C>T, NM_001405563.1:c.2222C>G, NM_001405572.1:c.2126C>T, NM_001405572.1:c.2126C>G, NM_001405573.1:c.2036C>T, NM_001405573.1:c.2036C>G, NM_001405580.1:c.2249C>T, NM_001405580.1:c.2249C>G, NM_001400504.1:c.2222C>T, NM_001400504.1:c.2222C>G, NM_001405605.1:c.2222C>T, NM_001405605.1:c.2222C>G, NM_001405576.1:c.2222C>T, NM_001405576.1:c.2222C>G, NM_001405602.1:c.2126C>T, NM_001405602.1:c.2126C>G, NM_001405560.1:c.2123C>T, NM_001405560.1:c.2123C>G, NM_001405642.1:c.2123C>T, NM_001405642.1:c.2123C>G, NM_001405555.1:c.2222C>T, NM_001405555.1:c.2222C>G, NM_001405609.1:c.2222C>T, NM_001405609.1:c.2222C>G, NM_001394879.1:c.2126C>T, NM_001394879.1:c.2126C>G, NM_001394878.1:c.2186C>T, NM_001394878.1:c.2186C>G, NM_001405612.1:c.2222C>T, NM_001405612.1:c.2222C>G, NM_001405610.1:c.2222C>T, NM_001405610.1:c.2222C>G, NM_001405608.1:c.1085C>T, NM_001405608.1:c.1085C>G, NM_001405611.1:c.2222C>T, NM_001405611.1:c.2222C>G, XM_011533900.4:c.2330C>T, XM_011533900.4:c.2330C>G, XM_011533900.3:c.2330C>T, XM_011533900.3:c.2330C>G, XM_011533900.2:c.2330C>T, XM_011533900.2:c.2330C>G, XM_011533900.1:c.2330C>T, XM_011533900.1:c.2330C>G, XM_011533902.4:c.2330C>T, XM_011533902.4:c.2330C>G, XM_011533902.3:c.2330C>T, XM_011533902.3:c.2330C>G, XM_011533902.2:c.2330C>T, XM_011533902.2:c.2330C>G, XM_011533902.1:c.2330C>T, XM_011533902.1:c.2330C>G, XM_011533903.4:c.2330C>T, XM_011533903.4:c.2330C>G, XM_011533903.3:c.2330C>T, XM_011533903.3:c.2330C>G, XM_011533903.2:c.2330C>T, XM_011533903.2:c.2330C>G, XM_011533903.1:c.2330C>T, XM_011533903.1:c.2330C>G, XM_005265280.4:c.2267C>T, XM_005265280.4:c.2267C>G, NM_018165.4:c.2126C>T, NM_018165.4:c.2126C>G, XM_017006734.3:c.2318C>T, XM_017006734.3:c.2318C>G, XM_017006734.2:c.2318C>T, XM_017006734.2:c.2318C>G, XM_017006734.1:c.2318C>T, XM_017006734.1:c.2318C>G, XM_017006741.3:c.2285C>T, XM_017006741.3:c.2285C>G, XM_017006741.2:c.2285C>T, XM_017006741.2:c.2285C>G, XM_017006741.1:c.2285C>T, XM_017006741.1:c.2285C>G, NM_018165.3:c.2126C>T, NM_018165.3:c.2126C>G, XM_017006727.2:c.2357C>T, XM_017006727.2:c.2357C>G, XM_017006727.1:c.2357C>T, XM_017006727.1:c.2357C>G, XM_017006726.2:c.2357C>T, XM_017006726.2:c.2357C>G, XM_017006726.1:c.2357C>T, XM_017006726.1:c.2357C>G, XM_017006730.2:c.2348C>T, XM_017006730.2:c.2348C>G, XM_017006730.1:c.2348C>T, XM_017006730.1:c.2348C>G, XM_017006725.2:c.2357C>T, XM_017006725.2:c.2357C>G, XM_017006725.1:c.2357C>T, XM_017006725.1:c.2357C>G, XM_017006728.2:c.2357C>T, XM_017006728.2:c.2357C>G, XM_017006728.1:c.2357C>T, XM_017006728.1:c.2357C>G, XM_017006731.2:c.2348C>T, XM_017006731.2:c.2348C>G, XM_017006731.1:c.2348C>T, XM_017006731.1:c.2348C>G, XM_024453619.2:c.2321C>T, XM_024453619.2:c.2321C>G, XM_024453619.1:c.2321C>T, XM_024453619.1:c.2321C>G, XM_017006742.2:c.2285C>T, XM_017006742.2:c.2285C>G, XM_017006742.1:c.2285C>T, XM_017006742.1:c.2285C>G, XM_017006744.2:c.2276C>T, XM_017006744.2:c.2276C>G, XM_017006744.1:c.2276C>T, XM_017006744.1:c.2276C>G, NM_018165.2:c.2126C>T, NM_018165.2:c.2126C>G, XM_047448442.1:c.2357C>T, XM_047448442.1:c.2357C>G, XM_047448443.1:c.2357C>T, XM_047448443.1:c.2357C>G, XM_047448444.1:c.2345C>T, XM_047448444.1:c.2345C>G, XM_047448446.1:c.2330C>T, XM_047448446.1:c.2330C>G, XM_047448448.1:c.2330C>T, XM_047448448.1:c.2330C>G, XM_047448450.1:c.2357C>T, XM_047448450.1:c.2357C>G, XM_047448451.1:c.2357C>T, XM_047448451.1:c.2357C>G, XM_047448456.1:c.2330C>T, XM_047448456.1:c.2330C>G, XM_047448447.1:c.2330C>T, XM_047448447.1:c.2330C>G, XM_047448445.1:c.2345C>T, XM_047448445.1:c.2345C>G, XM_047448455.1:c.2273C>T, XM_047448455.1:c.2273C>G, XM_047448454.1:c.2273C>T, XM_047448454.1:c.2273C>G, XM_047448452.1:c.2276C>T, XM_047448452.1:c.2276C>G, XM_047448453.1:c.2276C>T, XM_047448453.1:c.2276C>G, XM_047448457.1:c.2327C>T, XM_047448457.1:c.2327C>G, XM_047448459.1:c.2180C>T, XM_047448459.1:c.2180C>G, XM_047448464.1:c.2285C>T, XM_047448464.1:c.2285C>G, XM_047448449.1:c.2294C>T, XM_047448449.1:c.2294C>G, XM_047448458.1:c.2222C>T, XM_047448458.1:c.2222C>G, XM_047448460.1:c.2171C>T, XM_047448460.1:c.2171C>G, XM_047448461.1:c.2222C>T, XM_047448461.1:c.2222C>G, XM_047448462.1:c.2222C>T, XM_047448462.1:c.2222C>G, XM_047448463.1:c.2126C>T, XM_047448463.1:c.2126C>G, XM_047448465.1:c.2267C>T, XM_047448465.1:c.2267C>G, NM_181041.1:c.2222C>T, NM_181041.1:c.2222C>G, NP_851385.1:p.Pro741Leu, NP_851385.1:p.Pro741Arg, NP_060783.3:p.Pro741Leu, NP_060783.3:p.Pro741Arg, NP_001337006.1:p.Pro774Leu, NP_001337006.1:p.Pro774Arg, NP_001337007.1:p.Pro777Leu, NP_001337007.1:p.Pro777Arg, NP_001337003.1:p.Pro777Leu, NP_001337003.1:p.Pro777Arg, NP_001337005.1:p.Pro777Leu, NP_001337005.1:p.Pro777Arg, NP_001353000.1:p.Pro762Leu, NP_001353000.1:p.Pro762Arg, NP_001353003.1:p.Pro758Leu, NP_001353003.1:p.Pro758Arg, NP_001337008.1:p.Pro762Leu, NP_001337008.1:p.Pro762Arg, NP_001352999.1:p.Pro777Leu, NP_001352999.1:p.Pro777Arg, NP_001337004.1:p.Pro741Leu, NP_001337004.1:p.Pro741Arg, NP_001353001.1:p.Pro762Leu, NP_001353001.1:p.Pro762Arg, NP_001353002.1:p.Pro759Leu, NP_001353002.1:p.Pro759Arg, NP_001353004.1:p.Pro777Leu, NP_001353004.1:p.Pro777Arg, NP_001353005.1:p.Pro742Leu, NP_001353005.1:p.Pro742Arg, NP_001381796.1:p.Pro741Leu, NP_001381796.1:p.Pro741Arg, NP_001381798.1:p.Pro741Leu, NP_001381798.1:p.Pro741Arg, NP_001387399.1:p.Pro741Leu, NP_001387399.1:p.Pro741Arg, NP_001387401.1:p.Pro748Leu, NP_001387401.1:p.Pro748Arg, NP_001381797.1:p.Pro741Leu, NP_001381797.1:p.Pro741Arg, NP_001387408.1:p.Pro741Leu, NP_001387408.1:p.Pro741Arg, NP_001387404.1:p.Pro741Leu, NP_001387404.1:p.Pro741Arg, NP_001387403.1:p.Pro741Leu, NP_001387403.1:p.Pro741Arg, NP_001381799.1:p.Pro759Leu, NP_001381799.1:p.Pro759Arg, NP_001387400.1:p.Pro756Leu, NP_001387400.1:p.Pro756Arg, NP_001387416.1:p.Pro709Leu, NP_001387416.1:p.Pro709Arg, NP_001381800.1:p.Pro741Leu, NP_001381800.1:p.Pro741Arg, NP_001387402.1:p.Pro741Leu, NP_001387402.1:p.Pro741Arg, NP_001381802.1:p.Pro741Leu, NP_001381802.1:p.Pro741Arg, NP_001381801.1:p.Pro741Leu, NP_001381801.1:p.Pro741Arg, NP_001387410.1:p.Pro741Leu, NP_001387410.1:p.Pro741Arg, NP_001381803.1:p.Pro741Leu, NP_001381803.1:p.Pro741Arg, NP_001387430.1:p.Pro741Leu, NP_001387430.1:p.Pro741Arg, NP_001387429.1:p.Pro741Leu, NP_001387429.1:p.Pro741Arg, NP_001381805.1:p.Pro741Leu, NP_001381805.1:p.Pro741Arg, NP_001387413.1:p.Pro741Leu, NP_001387413.1:p.Pro741Arg, NP_001387419.1:p.Pro741Leu, NP_001387419.1:p.Pro741Arg, NP_001387425.1:p.Pro741Leu, NP_001387425.1:p.Pro741Arg, NP_001381806.1:p.Pro741Leu, NP_001381806.1:p.Pro741Arg, NP_001381804.1:p.Pro741Leu, NP_001381804.1:p.Pro741Arg, NP_001387433.1:p.Pro741Leu, NP_001387433.1:p.Pro741Arg, NP_001381808.1:p.Pro709Leu, NP_001381808.1:p.Pro709Arg, NP_001381807.1:p.Pro729Leu, NP_001381807.1:p.Pro729Arg, XP_011532202.1:p.Pro777Leu, XP_011532202.1:p.Pro777Arg, XP_011532204.1:p.Pro777Leu, XP_011532204.1:p.Pro777Arg, XP_011532205.1:p.Pro777Leu, XP_011532205.1:p.Pro777Arg, XP_005265337.1:p.Pro756Leu, XP_005265337.1:p.Pro756Arg, XP_016862223.1:p.Pro773Leu, XP_016862223.1:p.Pro773Arg, XP_016862230.1:p.Pro762Leu, XP_016862230.1:p.Pro762Arg, XP_016862216.1:p.Pro786Leu, XP_016862216.1:p.Pro786Arg, XP_016862215.1:p.Pro786Leu, XP_016862215.1:p.Pro786Arg, XP_016862219.1:p.Pro783Leu, XP_016862219.1:p.Pro783Arg, XP_016862214.1:p.Pro786Leu, XP_016862214.1:p.Pro786Arg, XP_016862217.1:p.Pro786Leu, XP_016862217.1:p.Pro786Arg, XP_016862220.1:p.Pro783Leu, XP_016862220.1:p.Pro783Arg, XP_024309387.1:p.Pro774Leu, XP_024309387.1:p.Pro774Arg, XP_016862231.1:p.Pro762Leu, XP_016862231.1:p.Pro762Arg, XP_016862233.1:p.Pro759Leu, XP_016862233.1:p.Pro759Arg, XP_047304398.1:p.Pro786Leu, XP_047304398.1:p.Pro786Arg, XP_047304399.1:p.Pro786Leu, XP_047304399.1:p.Pro786Arg, XP_047304400.1:p.Pro782Leu, XP_047304400.1:p.Pro782Arg, XP_047304402.1:p.Pro777Leu, XP_047304402.1:p.Pro777Arg, XP_047304404.1:p.Pro777Leu, XP_047304404.1:p.Pro777Arg, XP_047304406.1:p.Pro786Leu, XP_047304406.1:p.Pro786Arg, XP_047304407.1:p.Pro786Leu, XP_047304407.1:p.Pro786Arg, XP_047304412.1:p.Pro777Leu, XP_047304412.1:p.Pro777Arg, XP_047304403.1:p.Pro777Leu, XP_047304403.1:p.Pro777Arg, XP_047304401.1:p.Pro782Leu, XP_047304401.1:p.Pro782Arg, XP_047304411.1:p.Pro758Leu, XP_047304411.1:p.Pro758Arg, XP_047304410.1:p.Pro758Leu, XP_047304410.1:p.Pro758Arg, XP_047304408.1:p.Pro759Leu, XP_047304408.1:p.Pro759Arg, XP_047304409.1:p.Pro759Leu, XP_047304409.1:p.Pro759Arg, XP_047304413.1:p.Pro776Leu, XP_047304413.1:p.Pro776Arg, XP_047304415.1:p.Pro727Leu, XP_047304415.1:p.Pro727Arg, XP_047304420.1:p.Pro762Leu, XP_047304420.1:p.Pro762Arg, XP_047304405.1:p.Pro765Leu, XP_047304405.1:p.Pro765Arg, XP_047304414.1:p.Pro741Leu, XP_047304414.1:p.Pro741Arg, XP_047304416.1:p.Pro724Leu, XP_047304416.1:p.Pro724Arg, XP_047304417.1:p.Pro741Leu, XP_047304417.1:p.Pro741Arg, XP_047304418.1:p.Pro741Leu, XP_047304418.1:p.Pro741Arg, XP_047304419.1:p.Pro709Leu, XP_047304419.1:p.Pro709Arg, XP_047304421.1:p.Pro756Leu, XP_047304421.1:p.Pro756Arg

        4.

        rs1487575653 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          3:52641966 (GRCh38)
          3:52675982 (GRCh37)
          Canonical SPDI:
          NC_000003.12:52641965:C:G,NC_000003.12:52641965:C:T
          Gene:
          PBRM1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant
          Validated:
          by frequency,by cluster
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000003.12:g.52641966C>G, NC_000003.12:g.52641966C>T, NC_000003.11:g.52675982C>G, NC_000003.11:g.52675982C>T, NG_032108.1:g.48885G>C, NG_032108.1:g.48885G>A, NM_181042.5:c.1075G>C, NM_181042.5:c.1075G>A, NM_181042.4:c.1075G>C, NM_181042.4:c.1075G>A, NM_181042.3:c.1075G>C, NM_181042.3:c.1075G>A, NM_181042.2:c.1075G>C, NM_181042.2:c.1075G>A, NM_181042.1:c.1075G>C, NM_181042.1:c.1075G>A, NM_018313.5:c.1075G>C, NM_018313.5:c.1075G>A, NM_018313.4:c.1075G>C, NM_018313.4:c.1075G>A, NM_001350077.2:c.1129G>C, NM_001350077.2:c.1129G>A, NM_001350077.1:c.1129G>C, NM_001350077.1:c.1129G>A, NM_001350078.2:c.1138G>C, NM_001350078.2:c.1138G>A, NM_001350078.1:c.1138G>C, NM_001350078.1:c.1138G>A, NM_001350074.2:c.1138G>C, NM_001350074.2:c.1138G>A, NM_001350074.1:c.1138G>C, NM_001350074.1:c.1138G>A, NM_001350076.2:c.1138G>C, NM_001350076.2:c.1138G>A, NM_001350076.1:c.1138G>C, NM_001350076.1:c.1138G>A, NM_001366071.2:c.1138G>C, NM_001366071.2:c.1138G>A, NM_001366071.1:c.1138G>C, NM_001366071.1:c.1138G>A, NM_001366074.2:c.1126G>C, NM_001366074.2:c.1126G>A, NM_001366074.1:c.1126G>C, NM_001366074.1:c.1126G>A, NM_001350079.2:c.1138G>C, NM_001350079.2:c.1138G>A, NM_001350079.1:c.1138G>C, NM_001350079.1:c.1138G>A, NM_001366070.2:c.1138G>C, NM_001366070.2:c.1138G>A, NM_001366070.1:c.1138G>C, NM_001366070.1:c.1138G>A, NM_001350075.2:c.1075G>C, NM_001350075.2:c.1075G>A, NM_001350075.1:c.1075G>C, NM_001350075.1:c.1075G>A, NM_001366072.2:c.1138G>C, NM_001366072.2:c.1138G>A, NM_001366072.1:c.1138G>C, NM_001366072.1:c.1138G>A, NM_001366073.2:c.1129G>C, NM_001366073.2:c.1129G>A, NM_001366073.1:c.1129G>C, NM_001366073.1:c.1129G>A, NM_001366075.2:c.1138G>C, NM_001366075.2:c.1138G>A, NM_001366075.1:c.1138G>C, NM_001366075.1:c.1138G>A, NM_001366076.2:c.1033G>C, NM_001366076.2:c.1033G>A, NM_001366076.1:c.1033G>C, NM_001366076.1:c.1033G>A, NM_001405603.1:c.1075G>C, NM_001405603.1:c.1075G>A, NM_001405600.1:c.1129G>C, NM_001405600.1:c.1129G>A, NM_001405552.1:c.1177G>C, NM_001405552.1:c.1177G>A, NM_001394867.1:c.1075G>C, NM_001394867.1:c.1075G>A, NM_001394869.1:c.1075G>C, NM_001394869.1:c.1075G>A, NM_001405594.1:c.1075G>C, NM_001405594.1:c.1075G>A, NM_001405567.1:c.1075G>C, NM_001405567.1:c.1075G>A, NM_001405622.1:c.1138G>C, NM_001405622.1:c.1138G>A, NM_001405588.1:c.1075G>C, NM_001405588.1:c.1075G>A, NM_001405607.1:c.1075G>C, NM_001405607.1:c.1075G>A, NM_001405583.1:c.1075G>C, NM_001405583.1:c.1075G>A, NM_001405637.1:c.1093G>C, NM_001405637.1:c.1093G>A, NM_001405601.1:c.1075G>C, NM_001405601.1:c.1075G>A, NM_001405557.1:c.1075G>C, NM_001405557.1:c.1075G>A, NM_001405561.1:c.1075G>C, NM_001405561.1:c.1075G>A, NM_001405598.1:c.1102G>C, NM_001405598.1:c.1102G>A, NR_175959.1:n.1252G>C, NR_175959.1:n.1252G>A, NM_001405570.1:c.1075G>C, NM_001405570.1:c.1075G>A, NM_001400470.1:c.1075G>C, NM_001400470.1:c.1075G>A, NM_001400472.1:c.1075G>C, NM_001400472.1:c.1075G>A, NM_001405589.1:c.1075G>C, NM_001405589.1:c.1075G>A, NM_001394868.1:c.1075G>C, NM_001394868.1:c.1075G>A, NM_001405629.1:c.1075G>C, NM_001405629.1:c.1075G>A, NM_001405641.1:c.1075G>C, NM_001405641.1:c.1075G>A, NM_001405579.1:c.1075G>C, NM_001405579.1:c.1075G>A, NM_001400479.1:c.1075G>C, NM_001400479.1:c.1075G>A, NM_001405630.1:c.1075G>C, NM_001405630.1:c.1075G>A, NM_001405590.1:c.1075G>C, NM_001405590.1:c.1075G>A, NM_001400475.1:c.1075G>C, NM_001400475.1:c.1075G>A, NM_001400474.1:c.1075G>C, NM_001400474.1:c.1075G>A, NM_001405575.1:c.1075G>C, NM_001405575.1:c.1075G>A, NM_001405632.1:c.1075G>C, NM_001405632.1:c.1075G>A, NR_174502.1:n.1255G>C, NR_174502.1:n.1255G>A, NM_001405553.1:c.1138G>C, NM_001405553.1:c.1138G>A, NM_001394870.1:c.1129G>C, NM_001394870.1:c.1129G>A, NM_001405574.1:c.1129G>C, NM_001405574.1:c.1129G>A, NM_001405623.1:c.1075G>C, NM_001405623.1:c.1075G>A, NM_001405554.1:c.1183G>C, NM_001405554.1:c.1183G>A, NM_001405559.1:c.1075G>C, NM_001405559.1:c.1075G>A, NM_001405639.1:c.1075G>C, NM_001405639.1:c.1075G>A, NM_001405596.1:c.-908G>C, NM_001405596.1:c.-908G>A, NM_001405604.1:c.979G>C, NM_001405604.1:c.979G>A, NM_001405558.1:c.1075G>C, NM_001405558.1:c.1075G>A, NM_001405635.1:c.1075G>C, NM_001405635.1:c.1075G>A, NM_001400471.1:c.1075G>C, NM_001400471.1:c.1075G>A, NM_001405606.1:c.979G>C, NM_001405606.1:c.979G>A, NM_001405638.1:c.979G>C, NM_001405638.1:c.979G>A, NM_001405577.1:c.1075G>C, NM_001405577.1:c.1075G>A, NM_001405571.1:c.1075G>C, NM_001405571.1:c.1075G>A, NM_001405626.1:c.1075G>C, NM_001405626.1:c.1075G>A, NM_001400487.1:c.979G>C, NM_001400487.1:c.979G>A, NM_001405593.1:c.1075G>C, NM_001405593.1:c.1075G>A, NM_001405591.1:c.1129G>C, NM_001405591.1:c.1129G>A, NM_001405640.1:c.1075G>C, NM_001405640.1:c.1075G>A, NM_001405568.1:c.1102G>C, NM_001405568.1:c.1102G>A, NM_001405581.1:c.1075G>C, NM_001405581.1:c.1075G>A, NM_001405569.1:c.1102G>C, NM_001405569.1:c.1102G>A, NM_001405564.1:c.1102G>C, NM_001405564.1:c.1102G>A, NM_001394871.1:c.1075G>C, NM_001394871.1:c.1075G>A, NM_001405643.1:c.1075G>C, NM_001405643.1:c.1075G>A, NM_001405584.1:c.1075G>C, NM_001405584.1:c.1075G>A, NM_001400473.1:c.1075G>C, NM_001400473.1:c.1075G>A, NM_001405628.1:c.1075G>C, NM_001405628.1:c.1075G>A, NM_001394873.1:c.1075G>C, NM_001394873.1:c.1075G>A, NM_001394872.1:c.1075G>C, NM_001394872.1:c.1075G>A, NM_001405631.1:c.1075G>C, NM_001405631.1:c.1075G>A, NM_001400481.1:c.1075G>C, NM_001400481.1:c.1075G>A, NM_001405578.1:c.1075G>C, NM_001405578.1:c.1075G>A, NM_001394874.1:c.1075G>C, NM_001394874.1:c.1075G>A, NM_001400501.1:c.1075G>C, NM_001400501.1:c.1075G>A, NM_001400500.1:c.1075G>C, NM_001400500.1:c.1075G>A, NM_001394876.1:c.1075G>C, NM_001394876.1:c.1075G>A, NM_001405586.1:c.1102G>C, NM_001405586.1:c.1102G>A, NM_001405595.1:c.1006G>C, NM_001405595.1:c.1006G>A, NM_001400484.1:c.1075G>C, NM_001400484.1:c.1075G>A, NM_001405633.1:c.1075G>C, NM_001405633.1:c.1075G>A, NM_001405565.1:c.1075G>C, NM_001405565.1:c.1075G>A, NM_001405566.1:c.-908G>C, NM_001405566.1:c.-908G>A, NM_001400490.1:c.1075G>C, NM_001400490.1:c.1075G>A, NM_001405634.1:c.1075G>C, NM_001405634.1:c.1075G>A, NM_001405592.1:c.1075G>C, NM_001405592.1:c.1075G>A, NM_001405599.1:c.979G>C, NM_001405599.1:c.979G>A, NM_001405582.1:c.979G>C, NM_001405582.1:c.979G>A, NM_001405597.1:c.958G>C, NM_001405597.1:c.958G>A, NM_001405636.1:c.1102G>C, NM_001405636.1:c.1102G>A, NM_001405556.1:c.1075G>C, NM_001405556.1:c.1075G>A, NM_001405587.1:c.931G>C, NM_001405587.1:c.931G>A, NM_001405585.1:c.1075G>C, NM_001405585.1:c.1075G>A, NM_001400496.1:c.1075G>C, NM_001400496.1:c.1075G>A, NM_001405627.1:c.1075G>C, NM_001405627.1:c.1075G>A, NM_001394877.1:c.1075G>C, NM_001394877.1:c.1075G>A, NM_001394875.1:c.1075G>C, NM_001394875.1:c.1075G>A, NM_001405624.1:c.1075G>C, NM_001405624.1:c.1075G>A, NM_001405563.1:c.1075G>C, NM_001405563.1:c.1075G>A, NM_001405572.1:c.979G>C, NM_001405572.1:c.979G>A, NM_001405573.1:c.889G>C, NM_001405573.1:c.889G>A, NM_001405580.1:c.1102G>C, NM_001405580.1:c.1102G>A, NM_001400504.1:c.1075G>C, NM_001400504.1:c.1075G>A, NM_001405605.1:c.1075G>C, NM_001405605.1:c.1075G>A, NM_001405576.1:c.1075G>C, NM_001405576.1:c.1075G>A, NM_001405602.1:c.979G>C, NM_001405602.1:c.979G>A, NM_001405560.1:c.976G>C, NM_001405560.1:c.976G>A, NM_001405642.1:c.976G>C, NM_001405642.1:c.976G>A, NM_001405555.1:c.1075G>C, NM_001405555.1:c.1075G>A, NM_001405609.1:c.1075G>C, NM_001405609.1:c.1075G>A, NM_001394879.1:c.979G>C, NM_001394879.1:c.979G>A, NM_001394878.1:c.1039G>C, NM_001394878.1:c.1039G>A, NM_001405612.1:c.1075G>C, NM_001405612.1:c.1075G>A, NM_001405610.1:c.1075G>C, NM_001405610.1:c.1075G>A, NM_001405611.1:c.1075G>C, NM_001405611.1:c.1075G>A, NM_001394881.1:c.1075G>C, NM_001394881.1:c.1075G>A, NM_001405616.1:c.1075G>C, NM_001405616.1:c.1075G>A, NM_001394880.1:c.1138G>C, NM_001394880.1:c.1138G>A, NM_001405614.1:c.1075G>C, NM_001405614.1:c.1075G>A, NM_001405615.1:c.1075G>C, NM_001405615.1:c.1075G>A, NM_001405613.1:c.979G>C, NM_001405613.1:c.979G>A, XM_011533900.4:c.1138G>C, XM_011533900.4:c.1138G>A, XM_011533900.3:c.1138G>C, XM_011533900.3:c.1138G>A, XM_011533900.2:c.1138G>C, XM_011533900.2:c.1138G>A, XM_011533900.1:c.1138G>C, XM_011533900.1:c.1138G>A, XM_011533902.4:c.1138G>C, XM_011533902.4:c.1138G>A, XM_011533902.3:c.1138G>C, XM_011533902.3:c.1138G>A, XM_011533902.2:c.1138G>C, XM_011533902.2:c.1138G>A, XM_011533902.1:c.1138G>C, XM_011533902.1:c.1138G>A, XM_011533903.4:c.1138G>C, XM_011533903.4:c.1138G>A, XM_011533903.3:c.1138G>C, XM_011533903.3:c.1138G>A, XM_011533903.2:c.1138G>C, XM_011533903.2:c.1138G>A, XM_011533903.1:c.1138G>C, XM_011533903.1:c.1138G>A, XM_005265280.4:c.1075G>C, XM_005265280.4:c.1075G>A, NM_018165.4:c.979G>C, NM_018165.4:c.979G>A, XM_017006734.3:c.1126G>C, XM_017006734.3:c.1126G>A, XM_017006734.2:c.1126G>C, XM_017006734.2:c.1126G>A, XM_017006734.1:c.1126G>C, XM_017006734.1:c.1126G>A, XM_017006741.3:c.1138G>C, XM_017006741.3:c.1138G>A, XM_017006741.2:c.1138G>C, XM_017006741.2:c.1138G>A, XM_017006741.1:c.1138G>C, XM_017006741.1:c.1138G>A, NM_018165.3:c.979G>C, NM_018165.3:c.979G>A, XM_017006727.2:c.1165G>C, XM_017006727.2:c.1165G>A, XM_017006727.1:c.1165G>C, XM_017006727.1:c.1165G>A, XM_017006726.2:c.1165G>C, XM_017006726.2:c.1165G>A, XM_017006726.1:c.1165G>C, XM_017006726.1:c.1165G>A, XM_017006730.2:c.1156G>C, XM_017006730.2:c.1156G>A, XM_017006730.1:c.1156G>C, XM_017006730.1:c.1156G>A, XM_017006725.2:c.1165G>C, XM_017006725.2:c.1165G>A, XM_017006725.1:c.1165G>C, XM_017006725.1:c.1165G>A, XM_017006728.2:c.1165G>C, XM_017006728.2:c.1165G>A, XM_017006728.1:c.1165G>C, XM_017006728.1:c.1165G>A, XM_017006731.2:c.1156G>C, XM_017006731.2:c.1156G>A, XM_017006731.1:c.1156G>C, XM_017006731.1:c.1156G>A, XM_024453619.2:c.1129G>C, XM_024453619.2:c.1129G>A, XM_024453619.1:c.1129G>C, XM_024453619.1:c.1129G>A, XM_017006742.2:c.1138G>C, XM_017006742.2:c.1138G>A, XM_017006742.1:c.1138G>C, XM_017006742.1:c.1138G>A, XM_017006744.2:c.1129G>C, XM_017006744.2:c.1129G>A, XM_017006744.1:c.1129G>C, XM_017006744.1:c.1129G>A, NM_018165.2:c.979G>C, NM_018165.2:c.979G>A, XM_047448442.1:c.1165G>C, XM_047448442.1:c.1165G>A, XM_047448443.1:c.1165G>C, XM_047448443.1:c.1165G>A, XM_047448444.1:c.1153G>C, XM_047448444.1:c.1153G>A, XM_047448446.1:c.1138G>C, XM_047448446.1:c.1138G>A, XM_047448448.1:c.1138G>C, XM_047448448.1:c.1138G>A, XM_047448450.1:c.1165G>C, XM_047448450.1:c.1165G>A, XM_047448451.1:c.1165G>C, XM_047448451.1:c.1165G>A, XM_047448456.1:c.1138G>C, XM_047448456.1:c.1138G>A, XM_047448447.1:c.1138G>C, XM_047448447.1:c.1138G>A, XM_047448445.1:c.1153G>C, XM_047448445.1:c.1153G>A, XM_047448455.1:c.1126G>C, XM_047448455.1:c.1126G>A, XM_047448454.1:c.1126G>C, XM_047448454.1:c.1126G>A, XM_047448452.1:c.1129G>C, XM_047448452.1:c.1129G>A, XM_047448453.1:c.1129G>C, XM_047448453.1:c.1129G>A, XM_047448457.1:c.1135G>C, XM_047448457.1:c.1135G>A, XM_047448459.1:c.1033G>C, XM_047448459.1:c.1033G>A, XM_047448464.1:c.1138G>C, XM_047448464.1:c.1138G>A, XM_047448449.1:c.1102G>C, XM_047448449.1:c.1102G>A, XM_047448458.1:c.1075G>C, XM_047448458.1:c.1075G>A, XM_047448460.1:c.979G>C, XM_047448460.1:c.979G>A, XM_047448461.1:c.1075G>C, XM_047448461.1:c.1075G>A, XM_047448462.1:c.1075G>C, XM_047448462.1:c.1075G>A, XM_047448463.1:c.979G>C, XM_047448463.1:c.979G>A, XM_047448465.1:c.1075G>C, XM_047448465.1:c.1075G>A, NM_181041.1:c.1075G>C, NM_181041.1:c.1075G>A, NP_851385.1:p.Ala359Pro, NP_851385.1:p.Ala359Thr, NP_060783.3:p.Ala359Pro, NP_060783.3:p.Ala359Thr, NP_001337006.1:p.Ala377Pro, NP_001337006.1:p.Ala377Thr, NP_001337007.1:p.Ala380Pro, NP_001337007.1:p.Ala380Thr, NP_001337003.1:p.Ala380Pro, NP_001337003.1:p.Ala380Thr, NP_001337005.1:p.Ala380Pro, NP_001337005.1:p.Ala380Thr, NP_001353000.1:p.Ala380Pro, NP_001353000.1:p.Ala380Thr, NP_001353003.1:p.Ala376Pro, NP_001353003.1:p.Ala376Thr, NP_001337008.1:p.Ala380Pro, NP_001337008.1:p.Ala380Thr, NP_001352999.1:p.Ala380Pro, NP_001352999.1:p.Ala380Thr, NP_001337004.1:p.Ala359Pro, NP_001337004.1:p.Ala359Thr, NP_001353001.1:p.Ala380Pro, NP_001353001.1:p.Ala380Thr, NP_001353002.1:p.Ala377Pro, NP_001353002.1:p.Ala377Thr, NP_001353004.1:p.Ala380Pro, NP_001353004.1:p.Ala380Thr, NP_001353005.1:p.Ala345Pro, NP_001353005.1:p.Ala345Thr, NP_001381796.1:p.Ala359Pro, NP_001381796.1:p.Ala359Thr, NP_001381798.1:p.Ala359Pro, NP_001381798.1:p.Ala359Thr, NP_001387399.1:p.Ala359Pro, NP_001387399.1:p.Ala359Thr, NP_001387401.1:p.Ala359Pro, NP_001387401.1:p.Ala359Thr, NP_001381797.1:p.Ala359Pro, NP_001381797.1:p.Ala359Thr, NP_001387408.1:p.Ala359Pro, NP_001387408.1:p.Ala359Thr, NP_001387404.1:p.Ala359Pro, NP_001387404.1:p.Ala359Thr, NP_001387403.1:p.Ala359Pro, NP_001387403.1:p.Ala359Thr, NP_001381799.1:p.Ala377Pro, NP_001381799.1:p.Ala377Thr, NP_001387400.1:p.Ala359Pro, NP_001387400.1:p.Ala359Thr, NP_001387416.1:p.Ala327Pro, NP_001387416.1:p.Ala327Thr, NP_001381800.1:p.Ala359Pro, NP_001381800.1:p.Ala359Thr, NP_001387402.1:p.Ala359Pro, NP_001387402.1:p.Ala359Thr, NP_001381802.1:p.Ala359Pro, NP_001381802.1:p.Ala359Thr, NP_001381801.1:p.Ala359Pro, NP_001381801.1:p.Ala359Thr, NP_001387410.1:p.Ala359Pro, NP_001387410.1:p.Ala359Thr, NP_001381803.1:p.Ala359Pro, NP_001381803.1:p.Ala359Thr, NP_001387430.1:p.Ala359Pro, NP_001387430.1:p.Ala359Thr, NP_001387429.1:p.Ala359Pro, NP_001387429.1:p.Ala359Thr, NP_001381805.1:p.Ala359Pro, NP_001381805.1:p.Ala359Thr, NP_001387413.1:p.Ala359Pro, NP_001387413.1:p.Ala359Thr, NP_001387419.1:p.Ala359Pro, NP_001387419.1:p.Ala359Thr, NP_001387425.1:p.Ala359Pro, NP_001387425.1:p.Ala359Thr, NP_001381806.1:p.Ala359Pro, NP_001381806.1:p.Ala359Thr, NP_001381804.1:p.Ala359Pro, NP_001381804.1:p.Ala359Thr, NP_001387433.1:p.Ala359Pro, NP_001387433.1:p.Ala359Thr, NP_001381808.1:p.Ala327Pro, NP_001381808.1:p.Ala327Thr, NP_001381807.1:p.Ala347Pro, NP_001381807.1:p.Ala347Thr, NP_001381810.1:p.Ala359Pro, NP_001381810.1:p.Ala359Thr, NP_001381809.1:p.Ala380Pro, NP_001381809.1:p.Ala380Thr, XP_011532202.1:p.Ala380Pro, XP_011532202.1:p.Ala380Thr, XP_011532204.1:p.Ala380Pro, XP_011532204.1:p.Ala380Thr, XP_011532205.1:p.Ala380Pro, XP_011532205.1:p.Ala380Thr, XP_005265337.1:p.Ala359Pro, XP_005265337.1:p.Ala359Thr, XP_016862223.1:p.Ala376Pro, XP_016862223.1:p.Ala376Thr, XP_016862230.1:p.Ala380Pro, XP_016862230.1:p.Ala380Thr, XP_016862216.1:p.Ala389Pro, XP_016862216.1:p.Ala389Thr, XP_016862215.1:p.Ala389Pro, XP_016862215.1:p.Ala389Thr, XP_016862219.1:p.Ala386Pro, XP_016862219.1:p.Ala386Thr, XP_016862214.1:p.Ala389Pro, XP_016862214.1:p.Ala389Thr, XP_016862217.1:p.Ala389Pro, XP_016862217.1:p.Ala389Thr, XP_016862220.1:p.Ala386Pro, XP_016862220.1:p.Ala386Thr, XP_024309387.1:p.Ala377Pro, XP_024309387.1:p.Ala377Thr, XP_016862231.1:p.Ala380Pro, XP_016862231.1:p.Ala380Thr, XP_016862233.1:p.Ala377Pro, XP_016862233.1:p.Ala377Thr, XP_047304398.1:p.Ala389Pro, XP_047304398.1:p.Ala389Thr, XP_047304399.1:p.Ala389Pro, XP_047304399.1:p.Ala389Thr, XP_047304400.1:p.Ala385Pro, XP_047304400.1:p.Ala385Thr, XP_047304402.1:p.Ala380Pro, XP_047304402.1:p.Ala380Thr, XP_047304404.1:p.Ala380Pro, XP_047304404.1:p.Ala380Thr, XP_047304406.1:p.Ala389Pro, XP_047304406.1:p.Ala389Thr, XP_047304407.1:p.Ala389Pro, XP_047304407.1:p.Ala389Thr, XP_047304412.1:p.Ala380Pro, XP_047304412.1:p.Ala380Thr, XP_047304403.1:p.Ala380Pro, XP_047304403.1:p.Ala380Thr, XP_047304401.1:p.Ala385Pro, XP_047304401.1:p.Ala385Thr, XP_047304411.1:p.Ala376Pro, XP_047304411.1:p.Ala376Thr, XP_047304410.1:p.Ala376Pro, XP_047304410.1:p.Ala376Thr, XP_047304408.1:p.Ala377Pro, XP_047304408.1:p.Ala377Thr, XP_047304409.1:p.Ala377Pro, XP_047304409.1:p.Ala377Thr, XP_047304413.1:p.Ala379Pro, XP_047304413.1:p.Ala379Thr, XP_047304415.1:p.Ala345Pro, XP_047304415.1:p.Ala345Thr, XP_047304420.1:p.Ala380Pro, XP_047304420.1:p.Ala380Thr, XP_047304405.1:p.Ala368Pro, XP_047304405.1:p.Ala368Thr, XP_047304414.1:p.Ala359Pro, XP_047304414.1:p.Ala359Thr, XP_047304416.1:p.Ala327Pro, XP_047304416.1:p.Ala327Thr, XP_047304417.1:p.Ala359Pro, XP_047304417.1:p.Ala359Thr, XP_047304418.1:p.Ala359Pro, XP_047304418.1:p.Ala359Thr, XP_047304419.1:p.Ala327Pro, XP_047304419.1:p.Ala327Thr, XP_047304421.1:p.Ala359Pro, XP_047304421.1:p.Ala359Thr

          5.

          rs1486933581 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,G,T [Show Flanks]
            Chromosome:
            3:52550532 (GRCh38)
            3:52584548 (GRCh37)
            Canonical SPDI:
            NC_000003.12:52550531:C:A,NC_000003.12:52550531:C:G,NC_000003.12:52550531:C:T
            Gene:
            PBRM1 (Varview), LOC124909379 (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
            Validated:
            by cluster
            HGVS:
            NC_000003.12:g.52550532C>A, NC_000003.12:g.52550532C>G, NC_000003.12:g.52550532C>T, NC_000003.11:g.52584548C>A, NC_000003.11:g.52584548C>G, NC_000003.11:g.52584548C>T, NG_032108.1:g.140319G>T, NG_032108.1:g.140319G>C, NG_032108.1:g.140319G>A, NM_181042.5:c.4465G>T, NM_181042.5:c.4465G>C, NM_181042.5:c.4465G>A, NM_181042.4:c.4465G>T, NM_181042.4:c.4465G>C, NM_181042.4:c.4465G>A, NM_181042.3:c.4465G>T, NM_181042.3:c.4465G>C, NM_181042.3:c.4465G>A, NM_181042.2:c.4465G>T, NM_181042.2:c.4465G>C, NM_181042.2:c.4465G>A, NM_181042.1:c.4465G>T, NM_181042.1:c.4465G>C, NM_181042.1:c.4465G>A, NM_018313.5:c.4465G>T, NM_018313.5:c.4465G>C, NM_018313.5:c.4465G>A, NM_018313.4:c.4465G>T, NM_018313.4:c.4465G>C, NM_018313.4:c.4465G>A, NM_001350077.2:c.4564G>T, NM_001350077.2:c.4564G>C, NM_001350077.2:c.4564G>A, NM_001350077.1:c.4564G>T, NM_001350077.1:c.4564G>C, NM_001350077.1:c.4564G>A, NM_001350078.2:c.4573G>T, NM_001350078.2:c.4573G>C, NM_001350078.2:c.4573G>A, NM_001350078.1:c.4573G>T, NM_001350078.1:c.4573G>C, NM_001350078.1:c.4573G>A, NM_001350074.2:c.4573G>T, NM_001350074.2:c.4573G>C, NM_001350074.2:c.4573G>A, NM_001350074.1:c.4573G>T, NM_001350074.1:c.4573G>C, NM_001350074.1:c.4573G>A, NM_001350076.2:c.4570G>T, NM_001350076.2:c.4570G>C, NM_001350076.2:c.4570G>A, NM_001350076.1:c.4570G>T, NM_001350076.1:c.4570G>C, NM_001350076.1:c.4570G>A, NM_001366071.2:c.4693G>T, NM_001366071.2:c.4693G>C, NM_001366071.2:c.4693G>A, NM_001366071.1:c.4693G>T, NM_001366071.1:c.4693G>C, NM_001366071.1:c.4693G>A, NM_001366074.2:c.4516G>T, NM_001366074.2:c.4516G>C, NM_001366074.2:c.4516G>A, NM_001366074.1:c.4516G>T, NM_001366074.1:c.4516G>C, NM_001366074.1:c.4516G>A, NM_001350079.2:c.4453G>T, NM_001350079.2:c.4453G>C, NM_001350079.2:c.4453G>A, NM_001350079.1:c.4453G>T, NM_001350079.1:c.4453G>C, NM_001350079.1:c.4453G>A, NM_001366070.2:c.4573G>T, NM_001366070.2:c.4573G>C, NM_001366070.2:c.4573G>A, NM_001366070.1:c.4573G>T, NM_001366070.1:c.4573G>C, NM_001366070.1:c.4573G>A, NM_001350075.2:c.4621G>T, NM_001350075.2:c.4621G>C, NM_001350075.2:c.4621G>A, NM_001350075.1:c.4621G>T, NM_001350075.1:c.4621G>C, NM_001350075.1:c.4621G>A, NM_001366072.2:c.4528G>T, NM_001366072.2:c.4528G>C, NM_001366072.2:c.4528G>A, NM_001366072.1:c.4528G>T, NM_001366072.1:c.4528G>C, NM_001366072.1:c.4528G>A, NM_001366073.2:c.4519G>T, NM_001366073.2:c.4519G>C, NM_001366073.2:c.4519G>A, NM_001366073.1:c.4519G>T, NM_001366073.1:c.4519G>C, NM_001366073.1:c.4519G>A, NM_001366075.2:c.4498G>T, NM_001366075.2:c.4498G>C, NM_001366075.2:c.4498G>A, NM_001366075.1:c.4498G>T, NM_001366075.1:c.4498G>C, NM_001366075.1:c.4498G>A, NM_001366076.2:c.4468G>T, NM_001366076.2:c.4468G>C, NM_001366076.2:c.4468G>A, NM_001366076.1:c.4468G>T, NM_001366076.1:c.4468G>C, NM_001366076.1:c.4468G>A, NM_001405603.1:c.4786G>T, NM_001405603.1:c.4786G>C, NM_001405603.1:c.4786G>A, NM_001405600.1:c.4675G>T, NM_001405600.1:c.4675G>C, NM_001405600.1:c.4675G>A, NM_001405552.1:c.4732G>T, NM_001405552.1:c.4732G>C, 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XM_011533903.4:c.4894G>A, XM_011533903.3:c.4894G>T, XM_011533903.3:c.4894G>C, XM_011533903.3:c.4894G>A, XM_011533903.2:c.4894G>T, XM_011533903.2:c.4894G>C, XM_011533903.2:c.4894G>A, XM_011533903.1:c.4894G>T, XM_011533903.1:c.4894G>C, XM_011533903.1:c.4894G>A, XM_005265280.4:c.4831G>T, XM_005265280.4:c.4831G>C, XM_005265280.4:c.4831G>A, NM_018165.4:c.4525G>T, NM_018165.4:c.4525G>C, NM_018165.4:c.4525G>A, XM_017006734.3:c.4882G>T, XM_017006734.3:c.4882G>C, XM_017006734.3:c.4882G>A, XM_017006734.2:c.4882G>T, XM_017006734.2:c.4882G>C, XM_017006734.2:c.4882G>A, XM_017006734.1:c.4882G>T, XM_017006734.1:c.4882G>C, XM_017006734.1:c.4882G>A, XM_017006741.3:c.4849G>T, XM_017006741.3:c.4849G>C, XM_017006741.3:c.4849G>A, XM_017006741.2:c.4849G>T, XM_017006741.2:c.4849G>C, XM_017006741.2:c.4849G>A, XM_017006741.1:c.4849G>T, XM_017006741.1:c.4849G>C, XM_017006741.1:c.4849G>A, NM_018165.3:c.4525G>T, NM_018165.3:c.4525G>C, NM_018165.3:c.4525G>A, XM_017006727.2:c.4921G>T, XM_017006727.2:c.4921G>C, XM_017006727.2:c.4921G>A, XM_017006727.1:c.4921G>T, XM_017006727.1:c.4921G>C, XM_017006727.1:c.4921G>A, XM_017006726.2:c.4921G>T, XM_017006726.2:c.4921G>C, XM_017006726.2:c.4921G>A, XM_017006726.1:c.4921G>T, XM_017006726.1:c.4921G>C, XM_017006726.1:c.4921G>A, XM_017006730.2:c.4912G>T, XM_017006730.2:c.4912G>C, XM_017006730.2:c.4912G>A, XM_017006730.1:c.4912G>T, XM_017006730.1:c.4912G>C, XM_017006730.1:c.4912G>A, XM_017006725.2:c.4921G>T, XM_017006725.2:c.4921G>C, XM_017006725.2:c.4921G>A, XM_017006725.1:c.4921G>T, XM_017006725.1:c.4921G>C, XM_017006725.1:c.4921G>A, XM_017006728.2:c.4921G>T, XM_017006728.2:c.4921G>C, XM_017006728.2:c.4921G>A, XM_017006728.1:c.4921G>T, XM_017006728.1:c.4921G>C, XM_017006728.1:c.4921G>A, XM_017006731.2:c.4912G>T, XM_017006731.2:c.4912G>C, XM_017006731.2:c.4912G>A, XM_017006731.1:c.4912G>T, XM_017006731.1:c.4912G>C, XM_017006731.1:c.4912G>A, XM_024453619.2:c.4885G>T, XM_024453619.2:c.4885G>C, XM_024453619.2:c.4885G>A, XM_024453619.1:c.4885G>T, XM_024453619.1:c.4885G>C, XM_024453619.1:c.4885G>A, XM_017006742.2:c.4849G>T, XM_017006742.2:c.4849G>C, XM_017006742.2:c.4849G>A, XM_017006742.1:c.4849G>T, XM_017006742.1:c.4849G>C, XM_017006742.1:c.4849G>A, XM_017006744.2:c.4840G>T, XM_017006744.2:c.4840G>C, XM_017006744.2:c.4840G>A, XM_017006744.1:c.4840G>T, XM_017006744.1:c.4840G>C, XM_017006744.1:c.4840G>A, NM_018165.2:c.4525G>T, NM_018165.2:c.4525G>C, NM_018165.2:c.4525G>A, XM_047448442.1:c.4921G>T, XM_047448442.1:c.4921G>C, XM_047448442.1:c.4921G>A, XM_047448443.1:c.4918G>T, XM_047448443.1:c.4918G>C, XM_047448443.1:c.4918G>A, XM_047448444.1:c.4909G>T, XM_047448444.1:c.4909G>C, XM_047448444.1:c.4909G>A, XM_047448446.1:c.4894G>T, XM_047448446.1:c.4894G>C, XM_047448446.1:c.4894G>A, XM_047448448.1:c.4891G>T, XM_047448448.1:c.4891G>C, XM_047448448.1:c.4891G>A, XM_047448450.1:c.4846G>T, XM_047448450.1:c.4846G>C, XM_047448450.1:c.4846G>A, XM_047448451.1:c.4843G>T, XM_047448451.1:c.4843G>C, XM_047448451.1:c.4843G>A, XM_047448456.1:c.4819G>T, XM_047448456.1:c.4819G>C, XM_047448456.1:c.4819G>A, XM_047448447.1:c.4894G>T, XM_047448447.1:c.4894G>C, XM_047448447.1:c.4894G>A, XM_047448445.1:c.4909G>T, XM_047448445.1:c.4909G>C, XM_047448445.1:c.4909G>A, XM_047448455.1:c.4837G>T, XM_047448455.1:c.4837G>C, XM_047448455.1:c.4837G>A, XM_047448454.1:c.4837G>T, XM_047448454.1:c.4837G>C, XM_047448454.1:c.4837G>A, XM_047448452.1:c.4840G>T, XM_047448452.1:c.4840G>C, XM_047448452.1:c.4840G>A, XM_047448453.1:c.4837G>T, XM_047448453.1:c.4837G>C, XM_047448453.1:c.4837G>A, XM_047448457.1:c.4816G>T, XM_047448457.1:c.4816G>C, XM_047448457.1:c.4816G>A, XM_047448459.1:c.4744G>T, XM_047448459.1:c.4744G>C, XM_047448459.1:c.4744G>A, XM_047448464.1:c.4684G>T, XM_047448464.1:c.4684G>C, XM_047448464.1:c.4684G>A, XM_047448449.1:c.4858G>T, XM_047448449.1:c.4858G>C, XM_047448449.1:c.4858G>A, XM_047448458.1:c.4783G>T, XM_047448458.1:c.4783G>C, XM_047448458.1:c.4783G>A, XM_047448460.1:c.4735G>T, XM_047448460.1:c.4735G>C, XM_047448460.1:c.4735G>A, XM_047448461.1:c.4711G>T, XM_047448461.1:c.4711G>C, XM_047448461.1:c.4711G>A, XM_047448462.1:c.4708G>T, XM_047448462.1:c.4708G>C, XM_047448462.1:c.4708G>A, XM_047448463.1:c.4690G>T, XM_047448463.1:c.4690G>C, XM_047448463.1:c.4690G>A, XM_047448465.1:c.4666G>T, XM_047448465.1:c.4666G>C, XM_047448465.1:c.4666G>A, NM_181041.1:c.*1835G>T, NM_181041.1:c.*1835G>C, NM_181041.1:c.*1835G>A, NM_018165.1:c.637G>T, NM_018165.1:c.637G>C, NM_018165.1:c.637G>A, NP_851385.1:p.Ala1489Ser, NP_851385.1:p.Ala1489Pro, NP_851385.1:p.Ala1489Thr, NP_060783.3:p.Ala1489Ser, NP_060783.3:p.Ala1489Pro, NP_060783.3:p.Ala1489Thr, NP_001337006.1:p.Ala1522Ser, NP_001337006.1:p.Ala1522Pro, NP_001337006.1:p.Ala1522Thr, NP_001337007.1:p.Ala1525Ser, NP_001337007.1:p.Ala1525Pro, NP_001337007.1:p.Ala1525Thr, NP_001337003.1:p.Ala1525Ser, NP_001337003.1:p.Ala1525Pro, NP_001337003.1:p.Ala1525Thr, NP_001337005.1:p.Ala1524Ser, NP_001337005.1:p.Ala1524Pro, NP_001337005.1:p.Ala1524Thr, NP_001353000.1:p.Ala1565Ser, NP_001353000.1:p.Ala1565Pro, NP_001353000.1:p.Ala1565Thr, NP_001353003.1:p.Ala1506Ser, NP_001353003.1:p.Ala1506Pro, NP_001353003.1:p.Ala1506Thr, NP_001337008.1:p.Ala1485Ser, NP_001337008.1:p.Ala1485Pro, NP_001337008.1:p.Ala1485Thr, NP_001352999.1:p.Ala1525Ser, NP_001352999.1:p.Ala1525Pro, NP_001352999.1:p.Ala1525Thr, NP_001337004.1:p.Ala1541Ser, NP_001337004.1:p.Ala1541Pro, NP_001337004.1:p.Ala1541Thr, NP_001353001.1:p.Ala1510Ser, NP_001353001.1:p.Ala1510Pro, NP_001353001.1:p.Ala1510Thr, NP_001353002.1:p.Ala1507Ser, NP_001353002.1:p.Ala1507Pro, NP_001353002.1:p.Ala1507Thr, NP_001353004.1:p.Ala1500Ser, NP_001353004.1:p.Ala1500Pro, NP_001353004.1:p.Ala1500Thr, NP_001353005.1:p.Ala1490Ser, NP_001353005.1:p.Ala1490Pro, NP_001353005.1:p.Ala1490Thr, NP_001381796.1:p.Ala1596Ser, NP_001381796.1:p.Ala1596Pro, NP_001381796.1:p.Ala1596Thr, NP_001381798.1:p.Ala1596Ser, NP_001381798.1:p.Ala1596Pro, NP_001381798.1:p.Ala1596Thr, NP_001387399.1:p.Ala1596Ser, NP_001387399.1:p.Ala1596Pro, NP_001387399.1:p.Ala1596Thr, NP_001387401.1:p.Ala1548Ser, NP_001387401.1:p.Ala1548Pro, NP_001387401.1:p.Ala1548Thr, NP_001381797.1:p.Ala1596Ser, NP_001381797.1:p.Ala1596Pro, NP_001381797.1:p.Ala1596Thr, NP_001387408.1:p.Ala1541Ser, NP_001387408.1:p.Ala1541Pro, NP_001387408.1:p.Ala1541Thr, NP_001387404.1:p.Ala1541Ser, NP_001387404.1:p.Ala1541Pro, NP_001387404.1:p.Ala1541Thr, NP_001387403.1:p.Ala1541Ser, NP_001387403.1:p.Ala1541Pro, NP_001387403.1:p.Ala1541Thr, NP_001381799.1:p.Ala1559Ser, NP_001381799.1:p.Ala1559Pro, NP_001381799.1:p.Ala1559Thr, NP_001387400.1:p.Ala1559Ser, NP_001387400.1:p.Ala1559Pro, NP_001387400.1:p.Ala1559Thr, NP_001387416.1:p.Ala1509Ser, NP_001387416.1:p.Ala1509Pro, NP_001387416.1:p.Ala1509Thr, NP_001381800.1:p.Ala1544Ser, NP_001381800.1:p.Ala1544Pro, NP_001381800.1:p.Ala1544Thr, NP_001387402.1:p.Ala1543Ser, NP_001387402.1:p.Ala1543Pro, NP_001387402.1:p.Ala1543Thr, NP_001381802.1:p.Ala1540Ser, NP_001381802.1:p.Ala1540Pro, NP_001381802.1:p.Ala1540Thr, NP_001381801.1:p.Ala1541Ser, NP_001381801.1:p.Ala1541Pro, NP_001381801.1:p.Ala1541Thr, NP_001387410.1:p.Ala1540Ser, NP_001387410.1:p.Ala1540Pro, NP_001387410.1:p.Ala1540Thr, NP_001381803.1:p.Ala1540Ser, NP_001381803.1:p.Ala1540Pro, NP_001381803.1:p.Ala1540Thr, NP_001387430.1:p.Ala1489Ser, NP_001387430.1:p.Ala1489Pro, NP_001387430.1:p.Ala1489Thr, NP_001387429.1:p.Ala1489Ser, NP_001387429.1:p.Ala1489Pro, NP_001387429.1:p.Ala1489Thr, NP_001381805.1:p.Ala1488Ser, NP_001381805.1:p.Ala1488Pro, NP_001381805.1:p.Ala1488Thr, NP_001387413.1:p.Ala1516Ser, NP_001387413.1:p.Ala1516Pro, NP_001387413.1:p.Ala1516Thr, NP_001387419.1:p.Ala1464Ser, NP_001387419.1:p.Ala1464Pro, NP_001387419.1:p.Ala1464Thr, NP_001387425.1:p.Ala1489Ser, NP_001387425.1:p.Ala1489Pro, NP_001387425.1:p.Ala1489Thr, NP_001381806.1:p.Ala1488Ser, NP_001381806.1:p.Ala1488Pro, NP_001381806.1:p.Ala1488Thr, NP_001381804.1:p.Ala1489Ser, NP_001381804.1:p.Ala1489Pro, NP_001381804.1:p.Ala1489Thr, NP_001387433.1:p.Ala1464Ser, NP_001387433.1:p.Ala1464Pro, NP_001387433.1:p.Ala1464Thr, NP_001381807.1:p.Ala1477Ser, NP_001381807.1:p.Ala1477Pro, NP_001381807.1:p.Ala1477Thr, XP_011532202.1:p.Ala1632Ser, XP_011532202.1:p.Ala1632Pro, XP_011532202.1:p.Ala1632Thr, XP_011532204.1:p.Ala1632Ser, XP_011532204.1:p.Ala1632Pro, XP_011532204.1:p.Ala1632Thr, XP_011532205.1:p.Ala1632Ser, XP_011532205.1:p.Ala1632Pro, XP_011532205.1:p.Ala1632Thr, XP_005265337.1:p.Ala1611Ser, XP_005265337.1:p.Ala1611Pro, XP_005265337.1:p.Ala1611Thr, XP_016862223.1:p.Ala1628Ser, XP_016862223.1:p.Ala1628Pro, XP_016862223.1:p.Ala1628Thr, XP_016862230.1:p.Ala1617Ser, XP_016862230.1:p.Ala1617Pro, XP_016862230.1:p.Ala1617Thr, XP_016862216.1:p.Ala1641Ser, XP_016862216.1:p.Ala1641Pro, XP_016862216.1:p.Ala1641Thr, XP_016862215.1:p.Ala1641Ser, XP_016862215.1:p.Ala1641Pro, XP_016862215.1:p.Ala1641Thr, XP_016862219.1:p.Ala1638Ser, XP_016862219.1:p.Ala1638Pro, XP_016862219.1:p.Ala1638Thr, XP_016862214.1:p.Ala1641Ser, XP_016862214.1:p.Ala1641Pro, XP_016862214.1:p.Ala1641Thr, XP_016862217.1:p.Ala1641Ser, XP_016862217.1:p.Ala1641Pro, XP_016862217.1:p.Ala1641Thr, XP_016862220.1:p.Ala1638Ser, XP_016862220.1:p.Ala1638Pro, XP_016862220.1:p.Ala1638Thr, XP_024309387.1:p.Ala1629Ser, XP_024309387.1:p.Ala1629Pro, XP_024309387.1:p.Ala1629Thr, XP_016862231.1:p.Ala1617Ser, XP_016862231.1:p.Ala1617Pro, XP_016862231.1:p.Ala1617Thr, XP_016862233.1:p.Ala1614Ser, XP_016862233.1:p.Ala1614Pro, XP_016862233.1:p.Ala1614Thr, XP_047304398.1:p.Ala1641Ser, XP_047304398.1:p.Ala1641Pro, XP_047304398.1:p.Ala1641Thr, XP_047304399.1:p.Ala1640Ser, XP_047304399.1:p.Ala1640Pro, XP_047304399.1:p.Ala1640Thr, XP_047304400.1:p.Ala1637Ser, XP_047304400.1:p.Ala1637Pro, XP_047304400.1:p.Ala1637Thr, XP_047304402.1:p.Ala1632Ser, XP_047304402.1:p.Ala1632Pro, XP_047304402.1:p.Ala1632Thr, XP_047304404.1:p.Ala1631Ser, XP_047304404.1:p.Ala1631Pro, XP_047304404.1:p.Ala1631Thr, XP_047304406.1:p.Ala1616Ser, XP_047304406.1:p.Ala1616Pro, XP_047304406.1:p.Ala1616Thr, XP_047304407.1:p.Ala1615Ser, XP_047304407.1:p.Ala1615Pro, XP_047304407.1:p.Ala1615Thr, XP_047304412.1:p.Ala1607Ser, XP_047304412.1:p.Ala1607Pro, XP_047304412.1:p.Ala1607Thr, XP_047304403.1:p.Ala1632Ser, XP_047304403.1:p.Ala1632Pro, XP_047304403.1:p.Ala1632Thr, XP_047304401.1:p.Ala1637Ser, XP_047304401.1:p.Ala1637Pro, XP_047304401.1:p.Ala1637Thr, XP_047304411.1:p.Ala1613Ser, XP_047304411.1:p.Ala1613Pro, XP_047304411.1:p.Ala1613Thr, XP_047304410.1:p.Ala1613Ser, XP_047304410.1:p.Ala1613Pro, XP_047304410.1:p.Ala1613Thr, XP_047304408.1:p.Ala1614Ser, XP_047304408.1:p.Ala1614Pro, XP_047304408.1:p.Ala1614Thr, XP_047304409.1:p.Ala1613Ser, XP_047304409.1:p.Ala1613Pro, XP_047304409.1:p.Ala1613Thr, XP_047304413.1:p.Ala1606Ser, XP_047304413.1:p.Ala1606Pro, XP_047304413.1:p.Ala1606Thr, XP_047304415.1:p.Ala1582Ser, XP_047304415.1:p.Ala1582Pro, XP_047304415.1:p.Ala1582Thr, XP_047304420.1:p.Ala1562Ser, XP_047304420.1:p.Ala1562Pro, XP_047304420.1:p.Ala1562Thr, XP_047304405.1:p.Ala1620Ser, XP_047304405.1:p.Ala1620Pro, XP_047304405.1:p.Ala1620Thr, XP_047304414.1:p.Ala1595Ser, XP_047304414.1:p.Ala1595Pro, XP_047304414.1:p.Ala1595Thr, XP_047304416.1:p.Ala1579Ser, XP_047304416.1:p.Ala1579Pro, XP_047304416.1:p.Ala1579Thr, XP_047304417.1:p.Ala1571Ser, XP_047304417.1:p.Ala1571Pro, XP_047304417.1:p.Ala1571Thr, XP_047304418.1:p.Ala1570Ser, XP_047304418.1:p.Ala1570Pro, XP_047304418.1:p.Ala1570Thr, XP_047304419.1:p.Ala1564Ser, XP_047304419.1:p.Ala1564Pro, XP_047304419.1:p.Ala1564Thr, XP_047304421.1:p.Ala1556Ser, XP_047304421.1:p.Ala1556Pro, XP_047304421.1:p.Ala1556Thr

            6.

            rs1484038292 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G,T [Show Flanks]
              Chromosome:
              3:52642045 (GRCh38)
              3:52676061 (GRCh37)
              Canonical SPDI:
              NC_000003.12:52642044:A:G,NC_000003.12:52642044:A:T
              Gene:
              PBRM1 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,non_coding_transcript_variant,synonymous_variant
              Validated:
              by cluster
              HGVS:
              NC_000003.12:g.52642045A>G, NC_000003.12:g.52642045A>T, NC_000003.11:g.52676061A>G, NC_000003.11:g.52676061A>T, NG_032108.1:g.48806T>C, NG_032108.1:g.48806T>A, NM_181042.5:c.996T>C, NM_181042.5:c.996T>A, NM_181042.4:c.996T>C, NM_181042.4:c.996T>A, NM_181042.3:c.996T>C, NM_181042.3:c.996T>A, NM_181042.2:c.996T>C, NM_181042.2:c.996T>A, NM_181042.1:c.996T>C, NM_181042.1:c.996T>A, NM_018313.5:c.996T>C, NM_018313.5:c.996T>A, NM_018313.4:c.996T>C, NM_018313.4:c.996T>A, NM_001350077.2:c.1050T>C, NM_001350077.2:c.1050T>A, NM_001350077.1:c.1050T>C, NM_001350077.1:c.1050T>A, NM_001350078.2:c.1059T>C, NM_001350078.2:c.1059T>A, NM_001350078.1:c.1059T>C, NM_001350078.1:c.1059T>A, NM_001350074.2:c.1059T>C, NM_001350074.2:c.1059T>A, NM_001350074.1:c.1059T>C, NM_001350074.1:c.1059T>A, NM_001350076.2:c.1059T>C, NM_001350076.2:c.1059T>A, NM_001350076.1:c.1059T>C, NM_001350076.1:c.1059T>A, NM_001366071.2:c.1059T>C, NM_001366071.2:c.1059T>A, NM_001366071.1:c.1059T>C, NM_001366071.1:c.1059T>A, NM_001366074.2:c.1047T>C, NM_001366074.2:c.1047T>A, NM_001366074.1:c.1047T>C, NM_001366074.1:c.1047T>A, NM_001350079.2:c.1059T>C, NM_001350079.2:c.1059T>A, NM_001350079.1:c.1059T>C, NM_001350079.1:c.1059T>A, NM_001366070.2:c.1059T>C, NM_001366070.2:c.1059T>A, NM_001366070.1:c.1059T>C, NM_001366070.1:c.1059T>A, NM_001350075.2:c.996T>C, NM_001350075.2:c.996T>A, NM_001350075.1:c.996T>C, NM_001350075.1:c.996T>A, NM_001366072.2:c.1059T>C, NM_001366072.2:c.1059T>A, NM_001366072.1:c.1059T>C, NM_001366072.1:c.1059T>A, NM_001366073.2:c.1050T>C, NM_001366073.2:c.1050T>A, NM_001366073.1:c.1050T>C, NM_001366073.1:c.1050T>A, NM_001366075.2:c.1059T>C, NM_001366075.2:c.1059T>A, NM_001366075.1:c.1059T>C, NM_001366075.1:c.1059T>A, NM_001366076.2:c.954T>C, NM_001366076.2:c.954T>A, NM_001366076.1:c.954T>C, NM_001366076.1:c.954T>A, NM_001405603.1:c.996T>C, NM_001405603.1:c.996T>A, NM_001405600.1:c.1050T>C, NM_001405600.1:c.1050T>A, NM_001405552.1:c.1098T>C, NM_001405552.1:c.1098T>A, NM_001394867.1:c.996T>C, NM_001394867.1:c.996T>A, NM_001394869.1:c.996T>C, NM_001394869.1:c.996T>A, NM_001405594.1:c.996T>C, NM_001405594.1:c.996T>A, NM_001405567.1:c.996T>C, NM_001405567.1:c.996T>A, NM_001405622.1:c.1059T>C, NM_001405622.1:c.1059T>A, NM_001405588.1:c.996T>C, NM_001405588.1:c.996T>A, NM_001405607.1:c.996T>C, NM_001405607.1:c.996T>A, NM_001405583.1:c.996T>C, NM_001405583.1:c.996T>A, NM_001405637.1:c.1014T>C, NM_001405637.1:c.1014T>A, NM_001405601.1:c.996T>C, NM_001405601.1:c.996T>A, NM_001405557.1:c.996T>C, NM_001405557.1:c.996T>A, NM_001405561.1:c.996T>C, NM_001405561.1:c.996T>A, NM_001405598.1:c.1023T>C, NM_001405598.1:c.1023T>A, NR_175959.1:n.1173T>C, NR_175959.1:n.1173T>A, NM_001405570.1:c.996T>C, NM_001405570.1:c.996T>A, NM_001400470.1:c.996T>C, NM_001400470.1:c.996T>A, NM_001400472.1:c.996T>C, NM_001400472.1:c.996T>A, NM_001405589.1:c.996T>C, NM_001405589.1:c.996T>A, NM_001394868.1:c.996T>C, NM_001394868.1:c.996T>A, NM_001405629.1:c.996T>C, NM_001405629.1:c.996T>A, NM_001405641.1:c.996T>C, NM_001405641.1:c.996T>A, NM_001405579.1:c.996T>C, NM_001405579.1:c.996T>A, NM_001400479.1:c.996T>C, NM_001400479.1:c.996T>A, NM_001405630.1:c.996T>C, NM_001405630.1:c.996T>A, NM_001405590.1:c.996T>C, NM_001405590.1:c.996T>A, NM_001400475.1:c.996T>C, NM_001400475.1:c.996T>A, NM_001400474.1:c.996T>C, NM_001400474.1:c.996T>A, NM_001405575.1:c.996T>C, NM_001405575.1:c.996T>A, NM_001405632.1:c.996T>C, NM_001405632.1:c.996T>A, NR_174502.1:n.1176T>C, NR_174502.1:n.1176T>A, NM_001405553.1:c.1059T>C, NM_001405553.1:c.1059T>A, NM_001394870.1:c.1050T>C, NM_001394870.1:c.1050T>A, NM_001405574.1:c.1050T>C, NM_001405574.1:c.1050T>A, NM_001405623.1:c.996T>C, NM_001405623.1:c.996T>A, NM_001405554.1:c.1104T>C, NM_001405554.1:c.1104T>A, NM_001405559.1:c.996T>C, NM_001405559.1:c.996T>A, NM_001405639.1:c.996T>C, NM_001405639.1:c.996T>A, NM_001405596.1:c.-987T>C, NM_001405596.1:c.-987T>A, NM_001405604.1:c.900T>C, NM_001405604.1:c.900T>A, NM_001405558.1:c.996T>C, NM_001405558.1:c.996T>A, NM_001405635.1:c.996T>C, NM_001405635.1:c.996T>A, NM_001400471.1:c.996T>C, NM_001400471.1:c.996T>A, NM_001405606.1:c.900T>C, NM_001405606.1:c.900T>A, NM_001405638.1:c.900T>C, NM_001405638.1:c.900T>A, NM_001405577.1:c.996T>C, NM_001405577.1:c.996T>A, NM_001405571.1:c.996T>C, NM_001405571.1:c.996T>A, NM_001405626.1:c.996T>C, NM_001405626.1:c.996T>A, NM_001400487.1:c.900T>C, NM_001400487.1:c.900T>A, NM_001405593.1:c.996T>C, NM_001405593.1:c.996T>A, NM_001405591.1:c.1050T>C, NM_001405591.1:c.1050T>A, NM_001405640.1:c.996T>C, NM_001405640.1:c.996T>A, NM_001405568.1:c.1023T>C, NM_001405568.1:c.1023T>A, NM_001405581.1:c.996T>C, NM_001405581.1:c.996T>A, NM_001405569.1:c.1023T>C, NM_001405569.1:c.1023T>A, NM_001405564.1:c.1023T>C, NM_001405564.1:c.1023T>A, NM_001394871.1:c.996T>C, NM_001394871.1:c.996T>A, NM_001405643.1:c.996T>C, NM_001405643.1:c.996T>A, NM_001405584.1:c.996T>C, NM_001405584.1:c.996T>A, NM_001400473.1:c.996T>C, NM_001400473.1:c.996T>A, NM_001405628.1:c.996T>C, NM_001405628.1:c.996T>A, NM_001394873.1:c.996T>C, NM_001394873.1:c.996T>A, NM_001394872.1:c.996T>C, NM_001394872.1:c.996T>A, NM_001405631.1:c.996T>C, NM_001405631.1:c.996T>A, NM_001400481.1:c.996T>C, NM_001400481.1:c.996T>A, NM_001405578.1:c.996T>C, NM_001405578.1:c.996T>A, NM_001394874.1:c.996T>C, NM_001394874.1:c.996T>A, NM_001400501.1:c.996T>C, NM_001400501.1:c.996T>A, NM_001400500.1:c.996T>C, NM_001400500.1:c.996T>A, NM_001394876.1:c.996T>C, NM_001394876.1:c.996T>A, NM_001405586.1:c.1023T>C, NM_001405586.1:c.1023T>A, NM_001405595.1:c.927T>C, NM_001405595.1:c.927T>A, NM_001400484.1:c.996T>C, NM_001400484.1:c.996T>A, NM_001405633.1:c.996T>C, NM_001405633.1:c.996T>A, NM_001405565.1:c.996T>C, NM_001405565.1:c.996T>A, NM_001405566.1:c.-987T>C, NM_001405566.1:c.-987T>A, NM_001400490.1:c.996T>C, NM_001400490.1:c.996T>A, NM_001405634.1:c.996T>C, NM_001405634.1:c.996T>A, NM_001405592.1:c.996T>C, NM_001405592.1:c.996T>A, NM_001405599.1:c.900T>C, NM_001405599.1:c.900T>A, NM_001405582.1:c.900T>C, NM_001405582.1:c.900T>A, NM_001405597.1:c.879T>C, NM_001405597.1:c.879T>A, NM_001405636.1:c.1023T>C, NM_001405636.1:c.1023T>A, NM_001405556.1:c.996T>C, NM_001405556.1:c.996T>A, NM_001405587.1:c.852T>C, NM_001405587.1:c.852T>A, NM_001405585.1:c.996T>C, NM_001405585.1:c.996T>A, NM_001400496.1:c.996T>C, NM_001400496.1:c.996T>A, NM_001405627.1:c.996T>C, NM_001405627.1:c.996T>A, NM_001394877.1:c.996T>C, NM_001394877.1:c.996T>A, NM_001394875.1:c.996T>C, NM_001394875.1:c.996T>A, NM_001405624.1:c.996T>C, NM_001405624.1:c.996T>A, NM_001405563.1:c.996T>C, NM_001405563.1:c.996T>A, NM_001405572.1:c.900T>C, NM_001405572.1:c.900T>A, NM_001405573.1:c.810T>C, NM_001405573.1:c.810T>A, NM_001405580.1:c.1023T>C, NM_001405580.1:c.1023T>A, NM_001400504.1:c.996T>C, NM_001400504.1:c.996T>A, NM_001405605.1:c.996T>C, NM_001405605.1:c.996T>A, NM_001405576.1:c.996T>C, NM_001405576.1:c.996T>A, NM_001405602.1:c.900T>C, NM_001405602.1:c.900T>A, NM_001405560.1:c.897T>C, NM_001405560.1:c.897T>A, NM_001405642.1:c.897T>C, NM_001405642.1:c.897T>A, NM_001405555.1:c.996T>C, NM_001405555.1:c.996T>A, NM_001405609.1:c.996T>C, NM_001405609.1:c.996T>A, NM_001394879.1:c.900T>C, NM_001394879.1:c.900T>A, NM_001394878.1:c.960T>C, NM_001394878.1:c.960T>A, NM_001405612.1:c.996T>C, NM_001405612.1:c.996T>A, NM_001405610.1:c.996T>C, NM_001405610.1:c.996T>A, NM_001405611.1:c.996T>C, NM_001405611.1:c.996T>A, NM_001394881.1:c.996T>C, NM_001394881.1:c.996T>A, NM_001405616.1:c.996T>C, NM_001405616.1:c.996T>A, NM_001394880.1:c.1059T>C, NM_001394880.1:c.1059T>A, NM_001405614.1:c.996T>C, NM_001405614.1:c.996T>A, NM_001405615.1:c.996T>C, NM_001405615.1:c.996T>A, NM_001405613.1:c.900T>C, NM_001405613.1:c.900T>A, XM_011533900.4:c.1059T>C, XM_011533900.4:c.1059T>A, XM_011533900.3:c.1059T>C, XM_011533900.3:c.1059T>A, XM_011533900.2:c.1059T>C, XM_011533900.2:c.1059T>A, XM_011533900.1:c.1059T>C, XM_011533900.1:c.1059T>A, XM_011533902.4:c.1059T>C, XM_011533902.4:c.1059T>A, XM_011533902.3:c.1059T>C, XM_011533902.3:c.1059T>A, XM_011533902.2:c.1059T>C, XM_011533902.2:c.1059T>A, XM_011533902.1:c.1059T>C, XM_011533902.1:c.1059T>A, XM_011533903.4:c.1059T>C, XM_011533903.4:c.1059T>A, XM_011533903.3:c.1059T>C, XM_011533903.3:c.1059T>A, XM_011533903.2:c.1059T>C, XM_011533903.2:c.1059T>A, XM_011533903.1:c.1059T>C, XM_011533903.1:c.1059T>A, XM_005265280.4:c.996T>C, XM_005265280.4:c.996T>A, NM_018165.4:c.900T>C, NM_018165.4:c.900T>A, XM_017006734.3:c.1047T>C, XM_017006734.3:c.1047T>A, XM_017006734.2:c.1047T>C, XM_017006734.2:c.1047T>A, XM_017006734.1:c.1047T>C, XM_017006734.1:c.1047T>A, XM_017006741.3:c.1059T>C, XM_017006741.3:c.1059T>A, XM_017006741.2:c.1059T>C, XM_017006741.2:c.1059T>A, XM_017006741.1:c.1059T>C, XM_017006741.1:c.1059T>A, NM_018165.3:c.900T>C, NM_018165.3:c.900T>A, XM_017006727.2:c.1086T>C, XM_017006727.2:c.1086T>A, XM_017006727.1:c.1086T>C, XM_017006727.1:c.1086T>A, XM_017006726.2:c.1086T>C, XM_017006726.2:c.1086T>A, XM_017006726.1:c.1086T>C, XM_017006726.1:c.1086T>A, XM_017006730.2:c.1077T>C, XM_017006730.2:c.1077T>A, XM_017006730.1:c.1077T>C, XM_017006730.1:c.1077T>A, XM_017006725.2:c.1086T>C, XM_017006725.2:c.1086T>A, XM_017006725.1:c.1086T>C, XM_017006725.1:c.1086T>A, XM_017006728.2:c.1086T>C, XM_017006728.2:c.1086T>A, XM_017006728.1:c.1086T>C, XM_017006728.1:c.1086T>A, XM_017006731.2:c.1077T>C, XM_017006731.2:c.1077T>A, XM_017006731.1:c.1077T>C, XM_017006731.1:c.1077T>A, XM_024453619.2:c.1050T>C, XM_024453619.2:c.1050T>A, XM_024453619.1:c.1050T>C, XM_024453619.1:c.1050T>A, XM_017006742.2:c.1059T>C, XM_017006742.2:c.1059T>A, XM_017006742.1:c.1059T>C, XM_017006742.1:c.1059T>A, XM_017006744.2:c.1050T>C, XM_017006744.2:c.1050T>A, XM_017006744.1:c.1050T>C, XM_017006744.1:c.1050T>A, NM_018165.2:c.900T>C, NM_018165.2:c.900T>A, XM_047448442.1:c.1086T>C, XM_047448442.1:c.1086T>A, XM_047448443.1:c.1086T>C, XM_047448443.1:c.1086T>A, XM_047448444.1:c.1074T>C, XM_047448444.1:c.1074T>A, XM_047448446.1:c.1059T>C, XM_047448446.1:c.1059T>A, XM_047448448.1:c.1059T>C, XM_047448448.1:c.1059T>A, XM_047448450.1:c.1086T>C, XM_047448450.1:c.1086T>A, XM_047448451.1:c.1086T>C, XM_047448451.1:c.1086T>A, XM_047448456.1:c.1059T>C, XM_047448456.1:c.1059T>A, XM_047448447.1:c.1059T>C, XM_047448447.1:c.1059T>A, XM_047448445.1:c.1074T>C, XM_047448445.1:c.1074T>A, XM_047448455.1:c.1047T>C, XM_047448455.1:c.1047T>A, XM_047448454.1:c.1047T>C, XM_047448454.1:c.1047T>A, XM_047448452.1:c.1050T>C, XM_047448452.1:c.1050T>A, XM_047448453.1:c.1050T>C, XM_047448453.1:c.1050T>A, XM_047448457.1:c.1056T>C, XM_047448457.1:c.1056T>A, XM_047448459.1:c.954T>C, XM_047448459.1:c.954T>A, XM_047448464.1:c.1059T>C, XM_047448464.1:c.1059T>A, XM_047448449.1:c.1023T>C, XM_047448449.1:c.1023T>A, XM_047448458.1:c.996T>C, XM_047448458.1:c.996T>A, XM_047448460.1:c.900T>C, XM_047448460.1:c.900T>A, XM_047448461.1:c.996T>C, XM_047448461.1:c.996T>A, XM_047448462.1:c.996T>C, XM_047448462.1:c.996T>A, XM_047448463.1:c.900T>C, XM_047448463.1:c.900T>A, XM_047448465.1:c.996T>C, XM_047448465.1:c.996T>A, NM_181041.1:c.996T>C, NM_181041.1:c.996T>A, NP_001353005.1:p.Ser318Arg, NP_001387416.1:p.Ser300Arg, NP_001381808.1:p.Ser300Arg, XP_047304415.1:p.Ser318Arg, XP_047304416.1:p.Ser300Arg, XP_047304419.1:p.Ser300Arg

              7.

              rs1481976548 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,G,T [Show Flanks]
                Chromosome:
                3:52679646 (GRCh38)
                3:52713662 (GRCh37)
                Canonical SPDI:
                NC_000003.12:52679645:C:A,NC_000003.12:52679645:C:G,NC_000003.12:52679645:C:T
                Gene:
                PBRM1 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                T=0.000004/1 (GnomAD_exomes)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000003.12:g.52679646C>A, NC_000003.12:g.52679646C>G, NC_000003.12:g.52679646C>T, NC_000003.11:g.52713662C>A, NC_000003.11:g.52713662C>G, NC_000003.11:g.52713662C>T, NG_032108.1:g.11205G>T, NG_032108.1:g.11205G>C, NG_032108.1:g.11205G>A, NM_181042.5:c.66G>T, NM_181042.5:c.66G>C, NM_181042.5:c.66G>A, NM_181042.4:c.66G>T, NM_181042.4:c.66G>C, NM_181042.4:c.66G>A, NM_181042.3:c.66G>T, NM_181042.3:c.66G>C, NM_181042.3:c.66G>A, NM_181042.2:c.66G>T, NM_181042.2:c.66G>C, NM_181042.2:c.66G>A, NM_181042.1:c.66G>T, NM_181042.1:c.66G>C, NM_181042.1:c.66G>A, NM_018313.5:c.66G>T, NM_018313.5:c.66G>C, NM_018313.5:c.66G>A, NM_018313.4:c.66G>T, NM_018313.4:c.66G>C, NM_018313.4:c.66G>A, NM_001350077.2:c.120G>T, NM_001350077.2:c.120G>C, NM_001350077.2:c.120G>A, NM_001350077.1:c.120G>T, NM_001350077.1:c.120G>C, NM_001350077.1:c.120G>A, NM_001350078.2:c.129G>T, NM_001350078.2:c.129G>C, NM_001350078.2:c.129G>A, NM_001350078.1:c.129G>T, NM_001350078.1:c.129G>C, NM_001350078.1:c.129G>A, NM_001350074.2:c.129G>T, NM_001350074.2:c.129G>C, NM_001350074.2:c.129G>A, NM_001350074.1:c.129G>T, NM_001350074.1:c.129G>C, NM_001350074.1:c.129G>A, NM_001350076.2:c.129G>T, NM_001350076.2:c.129G>C, NM_001350076.2:c.129G>A, NM_001350076.1:c.129G>T, NM_001350076.1:c.129G>C, NM_001350076.1:c.129G>A, NM_001366071.2:c.129G>T, NM_001366071.2:c.129G>C, NM_001366071.2:c.129G>A, NM_001366071.1:c.129G>T, NM_001366071.1:c.129G>C, NM_001366071.1:c.129G>A, NM_001366074.2:c.117G>T, NM_001366074.2:c.117G>C, NM_001366074.2:c.117G>A, NM_001366074.1:c.117G>T, NM_001366074.1:c.117G>C, NM_001366074.1:c.117G>A, NM_001350079.2:c.129G>T, NM_001350079.2:c.129G>C, NM_001350079.2:c.129G>A, NM_001350079.1:c.129G>T, NM_001350079.1:c.129G>C, NM_001350079.1:c.129G>A, NM_001366070.2:c.129G>T, NM_001366070.2:c.129G>C, NM_001366070.2:c.129G>A, NM_001366070.1:c.129G>T, NM_001366070.1:c.129G>C, NM_001366070.1:c.129G>A, NM_001350075.2:c.66G>T, NM_001350075.2:c.66G>C, NM_001350075.2:c.66G>A, NM_001350075.1:c.66G>T, NM_001350075.1:c.66G>C, NM_001350075.1:c.66G>A, NM_001366072.2:c.129G>T, NM_001366072.2:c.129G>C, NM_001366072.2:c.129G>A, NM_001366072.1:c.129G>T, NM_001366072.1:c.129G>C, NM_001366072.1:c.129G>A, NM_001366073.2:c.120G>T, NM_001366073.2:c.120G>C, NM_001366073.2:c.120G>A, NM_001366073.1:c.120G>T, NM_001366073.1:c.120G>C, NM_001366073.1:c.120G>A, NM_001366075.2:c.129G>T, NM_001366075.2:c.129G>C, NM_001366075.2:c.129G>A, NM_001366075.1:c.129G>T, NM_001366075.1:c.129G>C, NM_001366075.1:c.129G>A, NM_001366076.2:c.120G>T, NM_001366076.2:c.120G>C, NM_001366076.2:c.120G>A, NM_001366076.1:c.120G>T, NM_001366076.1:c.120G>C, NM_001366076.1:c.120G>A, NM_001405603.1:c.66G>T, NM_001405603.1:c.66G>C, NM_001405603.1:c.66G>A, NM_001405600.1:c.120G>T, NM_001405600.1:c.120G>C, NM_001405600.1:c.120G>A, NM_001405552.1:c.129G>T, NM_001405552.1:c.129G>C, NM_001405552.1:c.129G>A, NM_001394867.1:c.66G>T, NM_001394867.1:c.66G>C, NM_001394867.1:c.66G>A, NM_001394869.1:c.66G>T, NM_001394869.1:c.66G>C, NM_001394869.1:c.66G>A, NM_001405594.1:c.66G>T, NM_001405594.1:c.66G>C, NM_001405594.1:c.66G>A, NM_001405567.1:c.66G>T, NM_001405567.1:c.66G>C, NM_001405567.1:c.66G>A, NM_001405622.1:c.129G>T, NM_001405622.1:c.129G>C, NM_001405622.1:c.129G>A, NM_001405588.1:c.66G>T, NM_001405588.1:c.66G>C, NM_001405588.1:c.66G>A, NM_001405607.1:c.66G>T, NM_001405607.1:c.66G>C, NM_001405607.1:c.66G>A, NM_001405583.1:c.66G>T, NM_001405583.1:c.66G>C, NM_001405583.1:c.66G>A, NM_001405637.1:c.84G>T, NM_001405637.1:c.84G>C, NM_001405637.1:c.84G>A, NM_001405601.1:c.66G>T, NM_001405601.1:c.66G>C, NM_001405601.1:c.66G>A, NM_001405557.1:c.66G>T, NM_001405557.1:c.66G>C, NM_001405557.1:c.66G>A, NM_001405561.1:c.66G>T, NM_001405561.1:c.66G>C, NM_001405561.1:c.66G>A, NM_001405598.1:c.66G>T, NM_001405598.1:c.66G>C, NM_001405598.1:c.66G>A, NR_175959.1:n.243G>T, NR_175959.1:n.243G>C, NR_175959.1:n.243G>A, NM_001405570.1:c.66G>T, NM_001405570.1:c.66G>C, NM_001405570.1:c.66G>A, NM_001400470.1:c.66G>T, NM_001400470.1:c.66G>C, NM_001400470.1:c.66G>A, NM_001400472.1:c.66G>T, NM_001400472.1:c.66G>C, NM_001400472.1:c.66G>A, NM_001405589.1:c.66G>T, NM_001405589.1:c.66G>C, NM_001405589.1:c.66G>A, NM_001394868.1:c.66G>T, NM_001394868.1:c.66G>C, NM_001394868.1:c.66G>A, NM_001405629.1:c.66G>T, NM_001405629.1:c.66G>C, NM_001405629.1:c.66G>A, NM_001405641.1:c.66G>T, NM_001405641.1:c.66G>C, NM_001405641.1:c.66G>A, NM_001405579.1:c.66G>T, NM_001405579.1:c.66G>C, NM_001405579.1:c.66G>A, NM_001400479.1:c.66G>T, NM_001400479.1:c.66G>C, NM_001400479.1:c.66G>A, NM_001405630.1:c.66G>T, NM_001405630.1:c.66G>C, NM_001405630.1:c.66G>A, NM_001405590.1:c.66G>T, NM_001405590.1:c.66G>C, NM_001405590.1:c.66G>A, NM_001400475.1:c.66G>T, NM_001400475.1:c.66G>C, NM_001400475.1:c.66G>A, NM_001400474.1:c.66G>T, NM_001400474.1:c.66G>C, NM_001400474.1:c.66G>A, NM_001405575.1:c.66G>T, NM_001405575.1:c.66G>C, NM_001405575.1:c.66G>A, NM_001405632.1:c.66G>T, NM_001405632.1:c.66G>C, NM_001405632.1:c.66G>A, NR_174502.1:n.246G>T, NR_174502.1:n.246G>C, NR_174502.1:n.246G>A, NM_001405553.1:c.129G>T, NM_001405553.1:c.129G>C, NM_001405553.1:c.129G>A, NM_001394870.1:c.120G>T, NM_001394870.1:c.120G>C, NM_001394870.1:c.120G>A, NM_001405574.1:c.120G>T, NM_001405574.1:c.120G>C, NM_001405574.1:c.120G>A, NM_001405623.1:c.66G>T, NM_001405623.1:c.66G>C, NM_001405623.1:c.66G>A, NM_001405554.1:c.66G>T, NM_001405554.1:c.66G>C, NM_001405554.1:c.66G>A, NM_001405559.1:c.66G>T, NM_001405559.1:c.66G>C, NM_001405559.1:c.66G>A, NM_001405639.1:c.66G>T, NM_001405639.1:c.66G>C, NM_001405639.1:c.66G>A, NM_001405596.1:c.-1917G>T, NM_001405596.1:c.-1917G>C, NM_001405596.1:c.-1917G>A, NM_001405604.1:c.66G>T, NM_001405604.1:c.66G>C, NM_001405604.1:c.66G>A, NM_001405558.1:c.66G>T, NM_001405558.1:c.66G>C, NM_001405558.1:c.66G>A, NM_001405635.1:c.66G>T, NM_001405635.1:c.66G>C, NM_001405635.1:c.66G>A, NM_001400471.1:c.66G>T, NM_001400471.1:c.66G>C, NM_001400471.1:c.66G>A, NM_001405606.1:c.66G>T, NM_001405606.1:c.66G>C, NM_001405606.1:c.66G>A, NM_001405638.1:c.66G>T, NM_001405638.1:c.66G>C, NM_001405638.1:c.66G>A, NM_001405577.1:c.66G>T, NM_001405577.1:c.66G>C, NM_001405577.1:c.66G>A, NM_001405571.1:c.66G>T, NM_001405571.1:c.66G>C, NM_001405571.1:c.66G>A, NM_001405626.1:c.66G>T, NM_001405626.1:c.66G>C, NM_001405626.1:c.66G>A, NM_001400487.1:c.66G>T, NM_001400487.1:c.66G>C, NM_001400487.1:c.66G>A, NM_001405593.1:c.66G>T, NM_001405593.1:c.66G>C, NM_001405593.1:c.66G>A, NM_001405591.1:c.120G>T, NM_001405591.1:c.120G>C, NM_001405591.1:c.120G>A, NM_001405640.1:c.66G>T, NM_001405640.1:c.66G>C, NM_001405640.1:c.66G>A, NM_001405568.1:c.66G>T, NM_001405568.1:c.66G>C, NM_001405568.1:c.66G>A, NM_001405581.1:c.66G>T, NM_001405581.1:c.66G>C, NM_001405581.1:c.66G>A, NM_001405569.1:c.66G>T, NM_001405569.1:c.66G>C, NM_001405569.1:c.66G>A, NM_001405625.1:c.-1425G>T, NM_001405625.1:c.-1425G>C, NM_001405625.1:c.-1425G>A, NM_001405564.1:c.66G>T, NM_001405564.1:c.66G>C, NM_001405564.1:c.66G>A, NM_001394871.1:c.66G>T, NM_001394871.1:c.66G>C, NM_001394871.1:c.66G>A, NM_001405643.1:c.66G>T, NM_001405643.1:c.66G>C, NM_001405643.1:c.66G>A, NM_001405584.1:c.66G>T, NM_001405584.1:c.66G>C, NM_001405584.1:c.66G>A, NM_001400473.1:c.66G>T, NM_001400473.1:c.66G>C, NM_001400473.1:c.66G>A, NM_001405628.1:c.66G>T, NM_001405628.1:c.66G>C, NM_001405628.1:c.66G>A, NM_001394873.1:c.66G>T, NM_001394873.1:c.66G>C, NM_001394873.1:c.66G>A, NM_001394872.1:c.66G>T, NM_001394872.1:c.66G>C, NM_001394872.1:c.66G>A, NM_001405631.1:c.66G>T, NM_001405631.1:c.66G>C, NM_001405631.1:c.66G>A, NM_001400481.1:c.66G>T, NM_001400481.1:c.66G>C, NM_001400481.1:c.66G>A, NM_001405578.1:c.66G>T, NM_001405578.1:c.66G>C, NM_001405578.1:c.66G>A, NM_001394874.1:c.66G>T, NM_001394874.1:c.66G>C, NM_001394874.1:c.66G>A, NM_001400501.1:c.66G>T, NM_001400501.1:c.66G>C, NM_001400501.1:c.66G>A, NM_001400500.1:c.66G>T, NM_001400500.1:c.66G>C, NM_001400500.1:c.66G>A, NM_001394876.1:c.66G>T, NM_001394876.1:c.66G>C, NM_001394876.1:c.66G>A, NM_001405586.1:c.66G>T, NM_001405586.1:c.66G>C, NM_001405586.1:c.66G>A, NM_001405595.1:c.66G>T, NM_001405595.1:c.66G>C, NM_001405595.1:c.66G>A, NM_001400484.1:c.66G>T, NM_001400484.1:c.66G>C, NM_001400484.1:c.66G>A, NM_001405633.1:c.66G>T, NM_001405633.1:c.66G>C, NM_001405633.1:c.66G>A, NM_001405565.1:c.66G>T, NM_001405565.1:c.66G>C, NM_001405565.1:c.66G>A, NM_001405566.1:c.-1917G>T, NM_001405566.1:c.-1917G>C, NM_001405566.1:c.-1917G>A, NM_001400490.1:c.66G>T, NM_001400490.1:c.66G>C, NM_001400490.1:c.66G>A, NM_001405634.1:c.66G>T, NM_001405634.1:c.66G>C, NM_001405634.1:c.66G>A, NM_001405592.1:c.66G>T, NM_001405592.1:c.66G>C, NM_001405592.1:c.66G>A, NM_001405599.1:c.66G>T, NM_001405599.1:c.66G>C, NM_001405599.1:c.66G>A, NM_001405582.1:c.66G>T, NM_001405582.1:c.66G>C, NM_001405582.1:c.66G>A, NM_001405597.1:c.66G>T, NM_001405597.1:c.66G>C, NM_001405597.1:c.66G>A, NM_001405636.1:c.66G>T, NM_001405636.1:c.66G>C, NM_001405636.1:c.66G>A, NM_001405556.1:c.66G>T, NM_001405556.1:c.66G>C, NM_001405556.1:c.66G>A, NM_001405587.1:c.66G>T, NM_001405587.1:c.66G>C, NM_001405587.1:c.66G>A, NM_001405585.1:c.66G>T, NM_001405585.1:c.66G>C, NM_001405585.1:c.66G>A, NM_001400496.1:c.66G>T, NM_001400496.1:c.66G>C, NM_001400496.1:c.66G>A, NM_001405627.1:c.66G>T, NM_001405627.1:c.66G>C, NM_001405627.1:c.66G>A, NM_001394877.1:c.66G>T, NM_001394877.1:c.66G>C, NM_001394877.1:c.66G>A, NM_001394875.1:c.66G>T, NM_001394875.1:c.66G>C, NM_001394875.1:c.66G>A, NM_001405624.1:c.66G>T, NM_001405624.1:c.66G>C, NM_001405624.1:c.66G>A, NM_001405563.1:c.66G>T, NM_001405563.1:c.66G>C, NM_001405563.1:c.66G>A, NM_001405572.1:c.66G>T, NM_001405572.1:c.66G>C, NM_001405572.1:c.66G>A, NM_001405573.1:c.66G>T, NM_001405573.1:c.66G>C, NM_001405573.1:c.66G>A, NM_001405580.1:c.66G>T, NM_001405580.1:c.66G>C, NM_001405580.1:c.66G>A, NM_001400504.1:c.66G>T, NM_001400504.1:c.66G>C, NM_001400504.1:c.66G>A, NM_001405605.1:c.66G>T, NM_001405605.1:c.66G>C, NM_001405605.1:c.66G>A, NM_001405576.1:c.66G>T, NM_001405576.1:c.66G>C, NM_001405576.1:c.66G>A, NM_001405602.1:c.66G>T, NM_001405602.1:c.66G>C, NM_001405602.1:c.66G>A, NM_001405560.1:c.66G>T, NM_001405560.1:c.66G>C, NM_001405560.1:c.66G>A, NM_001405642.1:c.66G>T, NM_001405642.1:c.66G>C, NM_001405642.1:c.66G>A, NM_001405555.1:c.66G>T, NM_001405555.1:c.66G>C, NM_001405555.1:c.66G>A, NM_001405609.1:c.66G>T, NM_001405609.1:c.66G>C, NM_001405609.1:c.66G>A, NM_001394879.1:c.66G>T, NM_001394879.1:c.66G>C, NM_001394879.1:c.66G>A, NM_001394878.1:c.129G>T, NM_001394878.1:c.129G>C, NM_001394878.1:c.129G>A, NM_001405612.1:c.66G>T, NM_001405612.1:c.66G>C, NM_001405612.1:c.66G>A, NM_001405610.1:c.66G>T, NM_001405610.1:c.66G>C, NM_001405610.1:c.66G>A, NM_001405608.1:c.-884G>T, NM_001405608.1:c.-884G>C, NM_001405608.1:c.-884G>A, NM_001405611.1:c.66G>T, NM_001405611.1:c.66G>C, NM_001405611.1:c.66G>A, NM_001405621.1:c.129G>T, NM_001405621.1:c.129G>C, NM_001405621.1:c.129G>A, NM_001405620.1:c.66G>T, NM_001405620.1:c.66G>C, NM_001405620.1:c.66G>A, NM_001405618.1:c.66G>T, NM_001405618.1:c.66G>C, NM_001405618.1:c.66G>A, NM_001405619.1:c.129G>T, NM_001405619.1:c.129G>C, NM_001405619.1:c.129G>A, NM_001405617.1:c.66G>T, NM_001405617.1:c.66G>C, NM_001405617.1:c.66G>A, NM_001394881.1:c.66G>T, NM_001394881.1:c.66G>C, NM_001394881.1:c.66G>A, NM_001405616.1:c.66G>T, NM_001405616.1:c.66G>C, NM_001405616.1:c.66G>A, NM_001394880.1:c.129G>T, NM_001394880.1:c.129G>C, NM_001394880.1:c.129G>A, NM_001405614.1:c.66G>T, NM_001405614.1:c.66G>C, NM_001405614.1:c.66G>A, NM_001405615.1:c.66G>T, NM_001405615.1:c.66G>C, NM_001405615.1:c.66G>A, NM_001405613.1:c.66G>T, NM_001405613.1:c.66G>C, NM_001405613.1:c.66G>A, XM_011533900.4:c.129G>T, XM_011533900.4:c.129G>C, XM_011533900.4:c.129G>A, XM_011533900.3:c.129G>T, XM_011533900.3:c.129G>C, XM_011533900.3:c.129G>A, XM_011533900.2:c.129G>T, XM_011533900.2:c.129G>C, XM_011533900.2:c.129G>A, XM_011533900.1:c.129G>T, XM_011533900.1:c.129G>C, XM_011533900.1:c.129G>A, XM_011533902.4:c.129G>T, XM_011533902.4:c.129G>C, XM_011533902.4:c.129G>A, XM_011533902.3:c.129G>T, XM_011533902.3:c.129G>C, XM_011533902.3:c.129G>A, XM_011533902.2:c.129G>T, XM_011533902.2:c.129G>C, XM_011533902.2:c.129G>A, XM_011533902.1:c.129G>T, XM_011533902.1:c.129G>C, XM_011533902.1:c.129G>A, XM_011533903.4:c.129G>T, XM_011533903.4:c.129G>C, XM_011533903.4:c.129G>A, XM_011533903.3:c.129G>T, XM_011533903.3:c.129G>C, XM_011533903.3:c.129G>A, XM_011533903.2:c.129G>T, XM_011533903.2:c.129G>C, XM_011533903.2:c.129G>A, XM_011533903.1:c.129G>T, XM_011533903.1:c.129G>C, XM_011533903.1:c.129G>A, XM_005265280.4:c.66G>T, XM_005265280.4:c.66G>C, XM_005265280.4:c.66G>A, NM_018165.4:c.66G>T, NM_018165.4:c.66G>C, NM_018165.4:c.66G>A, XM_017006734.3:c.117G>T, XM_017006734.3:c.117G>C, XM_017006734.3:c.117G>A, XM_017006734.2:c.117G>T, XM_017006734.2:c.117G>C, XM_017006734.2:c.117G>A, XM_017006734.1:c.117G>T, XM_017006734.1:c.117G>C, XM_017006734.1:c.117G>A, XM_017006741.3:c.129G>T, XM_017006741.3:c.129G>C, XM_017006741.3:c.129G>A, XM_017006741.2:c.129G>T, XM_017006741.2:c.129G>C, XM_017006741.2:c.129G>A, XM_017006741.1:c.129G>T, XM_017006741.1:c.129G>C, XM_017006741.1:c.129G>A, NM_018165.3:c.66G>T, NM_018165.3:c.66G>C, NM_018165.3:c.66G>A, XM_017006727.2:c.129G>T, XM_017006727.2:c.129G>C, XM_017006727.2:c.129G>A, XM_017006727.1:c.129G>T, XM_017006727.1:c.129G>C, XM_017006727.1:c.129G>A, XM_017006726.2:c.129G>T, XM_017006726.2:c.129G>C, XM_017006726.2:c.129G>A, XM_017006726.1:c.129G>T, XM_017006726.1:c.129G>C, XM_017006726.1:c.129G>A, XM_017006730.2:c.120G>T, XM_017006730.2:c.120G>C, XM_017006730.2:c.120G>A, XM_017006730.1:c.120G>T, XM_017006730.1:c.120G>C, XM_017006730.1:c.120G>A, XM_017006725.2:c.129G>T, XM_017006725.2:c.129G>C, XM_017006725.2:c.129G>A, XM_017006725.1:c.129G>T, XM_017006725.1:c.129G>C, XM_017006725.1:c.129G>A, XM_017006728.2:c.129G>T, XM_017006728.2:c.129G>C, XM_017006728.2:c.129G>A, XM_017006728.1:c.129G>T, XM_017006728.1:c.129G>C, XM_017006728.1:c.129G>A, XM_017006731.2:c.120G>T, XM_017006731.2:c.120G>C, XM_017006731.2:c.120G>A, XM_017006731.1:c.120G>T, XM_017006731.1:c.120G>C, XM_017006731.1:c.120G>A, XM_024453619.2:c.120G>T, XM_024453619.2:c.120G>C, XM_024453619.2:c.120G>A, XM_024453619.1:c.120G>T, XM_024453619.1:c.120G>C, XM_024453619.1:c.120G>A, XM_017006742.2:c.129G>T, XM_017006742.2:c.129G>C, XM_017006742.2:c.129G>A, XM_017006742.1:c.129G>T, XM_017006742.1:c.129G>C, XM_017006742.1:c.129G>A, XM_017006744.2:c.120G>T, XM_017006744.2:c.120G>C, XM_017006744.2:c.120G>A, XM_017006744.1:c.120G>T, XM_017006744.1:c.120G>C, XM_017006744.1:c.120G>A, NM_018165.2:c.66G>T, NM_018165.2:c.66G>C, NM_018165.2:c.66G>A, XM_047448442.1:c.129G>T, XM_047448442.1:c.129G>C, XM_047448442.1:c.129G>A, XM_047448443.1:c.129G>T, XM_047448443.1:c.129G>C, XM_047448443.1:c.129G>A, XM_047448444.1:c.117G>T, XM_047448444.1:c.117G>C, XM_047448444.1:c.117G>A, XM_047448446.1:c.129G>T, XM_047448446.1:c.129G>C, XM_047448446.1:c.129G>A, XM_047448448.1:c.129G>T, XM_047448448.1:c.129G>C, XM_047448448.1:c.129G>A, XM_047448450.1:c.129G>T, XM_047448450.1:c.129G>C, XM_047448450.1:c.129G>A, XM_047448451.1:c.129G>T, XM_047448451.1:c.129G>C, XM_047448451.1:c.129G>A, XM_047448456.1:c.129G>T, XM_047448456.1:c.129G>C, XM_047448456.1:c.129G>A, XM_047448447.1:c.129G>T, XM_047448447.1:c.129G>C, XM_047448447.1:c.129G>A, XM_047448445.1:c.117G>T, XM_047448445.1:c.117G>C, XM_047448445.1:c.117G>A, XM_047448455.1:c.117G>T, XM_047448455.1:c.117G>C, XM_047448455.1:c.117G>A, XM_047448454.1:c.117G>T, XM_047448454.1:c.117G>C, XM_047448454.1:c.117G>A, XM_047448452.1:c.120G>T, XM_047448452.1:c.120G>C, XM_047448452.1:c.120G>A, XM_047448453.1:c.120G>T, XM_047448453.1:c.120G>C, XM_047448453.1:c.120G>A, XM_047448457.1:c.126G>T, XM_047448457.1:c.126G>C, XM_047448457.1:c.126G>A, XM_047448459.1:c.120G>T, XM_047448459.1:c.120G>C, XM_047448459.1:c.120G>A, XM_047448464.1:c.129G>T, XM_047448464.1:c.129G>C, XM_047448464.1:c.129G>A, XM_047448449.1:c.66G>T, XM_047448449.1:c.66G>C, XM_047448449.1:c.66G>A, XM_047448458.1:c.66G>T, XM_047448458.1:c.66G>C, XM_047448458.1:c.66G>A, XM_047448460.1:c.66G>T, XM_047448460.1:c.66G>C, XM_047448460.1:c.66G>A, XM_047448461.1:c.66G>T, XM_047448461.1:c.66G>C, XM_047448461.1:c.66G>A, XM_047448462.1:c.66G>T, XM_047448462.1:c.66G>C, XM_047448462.1:c.66G>A, XM_047448463.1:c.66G>T, XM_047448463.1:c.66G>C, XM_047448463.1:c.66G>A, XM_047448465.1:c.66G>T, XM_047448465.1:c.66G>C, XM_047448465.1:c.66G>A, NM_181041.1:c.66G>T, NM_181041.1:c.66G>C, NM_181041.1:c.66G>A

                8.

                rs1481339044 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  3:52554749 (GRCh38)
                  3:52588765 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:52554748:A:G
                  Gene:
                  PBRM1 (Varview), LOC124909379 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000005/1 (GnomAD_exomes)
                  HGVS:
                  NC_000003.12:g.52554749A>G, NC_000003.11:g.52588765A>G, NG_032108.1:g.136102T>C, NM_018313.5:c.4263T>C, NM_018313.4:c.4263T>C, NM_001350075.2:c.4419T>C, NM_001350075.1:c.4419T>C, NM_001405603.1:c.4584T>C, NM_001405600.1:c.4473T>C, NM_001394867.1:c.4584T>C, NM_001394869.1:c.4584T>C, NM_001405594.1:c.4584T>C, NM_001405567.1:c.4581T>C, NM_001405622.1:c.4482T>C, NM_001405588.1:c.4509T>C, NM_001405607.1:c.4629T>C, NM_001405637.1:c.4437T>C, NM_001405601.1:c.4629T>C, NM_001405557.1:c.4419T>C, NM_001405561.1:c.4416T>C, NM_001405598.1:c.4611T>C, NR_175959.1:n.4641T>C, NM_001405570.1:c.4590T>C, NM_001400470.1:c.4584T>C, NM_001400472.1:c.4440T>C, NM_001405589.1:c.4581T>C, NM_001394868.1:c.4584T>C, NM_001405629.1:c.4581T>C, NM_001400479.1:c.4419T>C, NM_001405630.1:c.4419T>C, NM_001405590.1:c.4416T>C, NM_001400475.1:c.4419T>C, NM_001400474.1:c.4419T>C, NM_001405575.1:c.4416T>C, NM_001405632.1:c.4416T>C, NR_174502.1:n.4599T>C, NM_001405553.1:c.4482T>C, NM_001394870.1:c.4473T>C, NM_001405574.1:c.4470T>C, NM_001405623.1:c.4419T>C, NM_001405554.1:c.4524T>C, NM_001405559.1:c.4509T>C, NM_001405639.1:c.4509T>C, NM_001405596.1:c.2511T>C, NM_001405604.1:c.4488T>C, NM_001405558.1:c.4344T>C, NM_001405635.1:c.4344T>C, NM_001400471.1:c.4473T>C, NM_001405606.1:c.4323T>C, NM_001405638.1:c.4323T>C, NM_001405571.1:c.4464T>C, NM_001400487.1:c.4323T>C, NM_001405591.1:c.4398T>C, NM_001405568.1:c.4446T>C, NM_001405581.1:c.4584T>C, NM_001405569.1:c.4443T>C, NM_001405625.1:c.2943T>C, NM_001405628.1:c.4419T>C, NM_001394873.1:c.4416T>C, NM_001394872.1:c.4419T>C, NM_001405631.1:c.4419T>C, NM_001400481.1:c.4416T>C, NM_001405578.1:c.4416T>C, NM_001394874.1:c.4416T>C, NM_001405586.1:c.4368T>C, NM_001405595.1:c.4350T>C, NM_001400484.1:c.4344T>C, NM_001405633.1:c.4344T>C, NM_001405565.1:c.4344T>C, NM_001405599.1:c.4323T>C, NM_001405582.1:c.4323T>C, NM_001405597.1:c.4302T>C, NM_001405556.1:c.4419T>C, NM_001405587.1:c.4275T>C, NM_001405585.1:c.4416T>C, NM_001405572.1:c.4245T>C, NM_001405573.1:c.4230T>C, NM_001405609.1:c.4419T>C, NM_001405608.1:c.3207T>C, XM_011533900.4:c.4692T>C, XM_011533900.3:c.4692T>C, XM_011533900.2:c.4692T>C, XM_011533900.1:c.4692T>C, XM_011533902.4:c.4692T>C, XM_011533902.3:c.4692T>C, XM_011533902.2:c.4692T>C, XM_011533902.1:c.4692T>C, XM_011533903.4:c.4692T>C, XM_011533903.3:c.4692T>C, XM_011533903.2:c.4692T>C, XM_011533903.1:c.4692T>C, XM_005265280.4:c.4629T>C, NM_018165.4:c.4323T>C, XM_017006734.3:c.4680T>C, XM_017006734.2:c.4680T>C, XM_017006734.1:c.4680T>C, XM_017006741.3:c.4647T>C, XM_017006741.2:c.4647T>C, XM_017006741.1:c.4647T>C, NM_018165.3:c.4323T>C, XM_017006727.2:c.4719T>C, XM_017006727.1:c.4719T>C, XM_017006726.2:c.4719T>C, XM_017006726.1:c.4719T>C, XM_017006730.2:c.4710T>C, XM_017006730.1:c.4710T>C, XM_017006725.2:c.4719T>C, XM_017006725.1:c.4719T>C, XM_017006728.2:c.4719T>C, XM_017006728.1:c.4719T>C, XM_017006731.2:c.4710T>C, XM_017006731.1:c.4710T>C, XM_024453619.2:c.4683T>C, XM_024453619.1:c.4683T>C, XM_017006742.2:c.4647T>C, XM_017006742.1:c.4647T>C, XM_017006744.2:c.4638T>C, XM_017006744.1:c.4638T>C, NM_018165.2:c.4323T>C, XM_047448442.1:c.4719T>C, XM_047448443.1:c.4716T>C, XM_047448444.1:c.4707T>C, XM_047448446.1:c.4692T>C, XM_047448448.1:c.4689T>C, XM_047448450.1:c.4644T>C, XM_047448451.1:c.4641T>C, XM_047448456.1:c.4617T>C, XM_047448447.1:c.4692T>C, XM_047448445.1:c.4707T>C, XM_047448455.1:c.4635T>C, XM_047448454.1:c.4635T>C, XM_047448452.1:c.4638T>C, XM_047448453.1:c.4635T>C, XM_047448457.1:c.4614T>C, XM_047448459.1:c.4542T>C, XM_047448464.1:c.4482T>C, XM_047448449.1:c.4656T>C, XM_047448458.1:c.4581T>C, XM_047448460.1:c.4533T>C, XM_047448461.1:c.4509T>C, XM_047448462.1:c.4506T>C, XM_047448463.1:c.4488T>C, XM_047448465.1:c.4464T>C, NM_181041.1:c.*1633T>C, NM_018165.1:c.435T>C

                  9.

                  rs1479122148 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C,T [Show Flanks]
                    Chromosome:
                    3:52586518 (GRCh38)
                    3:52620534 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:52586517:G:A,NC_000003.12:52586517:G:C,NC_000003.12:52586517:G:T
                    Gene:
                    PBRM1 (Varview), LOC124909379 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,synonymous_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    A=0.000008/2 (GnomAD_exomes)
                    HGVS:
                    NC_000003.12:g.52586518G>A, NC_000003.12:g.52586518G>C, NC_000003.12:g.52586518G>T, NC_000003.11:g.52620534G>A, NC_000003.11:g.52620534G>C, NC_000003.11:g.52620534G>T, NG_032108.1:g.104333C>T, NG_032108.1:g.104333C>G, NG_032108.1:g.104333C>A, NM_181042.5:c.3294C>T, NM_181042.5:c.3294C>G, NM_181042.5:c.3294C>A, NM_181042.4:c.3294C>T, NM_181042.4:c.3294C>G, NM_181042.4:c.3294C>A, NM_181042.3:c.3294C>T, NM_181042.3:c.3294C>G, NM_181042.3:c.3294C>A, NM_181042.2:c.3294C>T, NM_181042.2:c.3294C>G, NM_181042.2:c.3294C>A, NM_181042.1:c.3294C>T, NM_181042.1:c.3294C>G, NM_181042.1:c.3294C>A, NM_018313.5:c.3219C>T, NM_018313.5:c.3219C>G, NM_018313.5:c.3219C>A, NM_018313.4:c.3219C>T, NM_018313.4:c.3219C>G, NM_018313.4:c.3219C>A, NM_001350077.2:c.3393C>T, NM_001350077.2:c.3393C>G, NM_001350077.2:c.3393C>A, NM_001350077.1:c.3393C>T, NM_001350077.1:c.3393C>G, NM_001350077.1:c.3393C>A, NM_001350078.2:c.3402C>T, NM_001350078.2:c.3402C>G, NM_001350078.2:c.3402C>A, NM_001350078.1:c.3402C>T, NM_001350078.1:c.3402C>G, NM_001350078.1:c.3402C>A, NM_001350074.2:c.3402C>T, NM_001350074.2:c.3402C>G, NM_001350074.2:c.3402C>A, NM_001350074.1:c.3402C>T, NM_001350074.1:c.3402C>G, NM_001350074.1:c.3402C>A, NM_001350076.2:c.3399C>T, NM_001350076.2:c.3399C>G, NM_001350076.2:c.3399C>A, NM_001350076.1:c.3399C>T, NM_001350076.1:c.3399C>G, NM_001350076.1:c.3399C>A, NM_001366071.2:c.3357C>T, NM_001366071.2:c.3357C>G, NM_001366071.2:c.3357C>A, NM_001366071.1:c.3357C>T, NM_001366071.1:c.3357C>G, NM_001366071.1:c.3357C>A, NM_001366074.2:c.3345C>T, NM_001366074.2:c.3345C>G, NM_001366074.2:c.3345C>A, NM_001366074.1:c.3345C>T, NM_001366074.1:c.3345C>G, NM_001366074.1:c.3345C>A, NM_001350079.2:c.3282C>T, NM_001350079.2:c.3282C>G, NM_001350079.2:c.3282C>A, NM_001350079.1:c.3282C>T, NM_001350079.1:c.3282C>G, NM_001350079.1:c.3282C>A, NM_001366070.2:c.3402C>T, NM_001366070.2:c.3402C>G, NM_001366070.2:c.3402C>A, NM_001366070.1:c.3402C>T, NM_001366070.1:c.3402C>G, 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NM_001405642.1:c.3195C>A, NM_001405555.1:c.3294C>T, NM_001405555.1:c.3294C>G, NM_001405555.1:c.3294C>A, NM_001405609.1:c.3294C>T, NM_001405609.1:c.3294C>G, NM_001405609.1:c.3294C>A, NM_001394879.1:c.3198C>T, NM_001394879.1:c.3198C>G, NM_001394879.1:c.3198C>A, NM_001394878.1:c.3258C>T, NM_001394878.1:c.3258C>G, NM_001394878.1:c.3258C>A, NM_001405612.1:c.3294C>T, NM_001405612.1:c.3294C>G, NM_001405612.1:c.3294C>A, NM_001405610.1:c.3294C>T, NM_001405610.1:c.3294C>G, NM_001405610.1:c.3294C>A, NM_001405608.1:c.2082C>T, NM_001405608.1:c.2082C>G, NM_001405608.1:c.2082C>A, NM_001405611.1:c.3216C>T, NM_001405611.1:c.3216C>G, NM_001405611.1:c.3216C>A, XM_011533900.4:c.3402C>T, XM_011533900.4:c.3402C>G, XM_011533900.4:c.3402C>A, XM_011533900.3:c.3402C>T, XM_011533900.3:c.3402C>G, XM_011533900.3:c.3402C>A, XM_011533900.2:c.3402C>T, XM_011533900.2:c.3402C>G, XM_011533900.2:c.3402C>A, XM_011533900.1:c.3402C>T, XM_011533900.1:c.3402C>G, XM_011533900.1:c.3402C>A, XM_011533902.4:c.3402C>T, XM_011533902.4:c.3402C>G, XM_011533902.4:c.3402C>A, XM_011533902.3:c.3402C>T, XM_011533902.3:c.3402C>G, XM_011533902.3:c.3402C>A, XM_011533902.2:c.3402C>T, XM_011533902.2:c.3402C>G, XM_011533902.2:c.3402C>A, XM_011533902.1:c.3402C>T, XM_011533902.1:c.3402C>G, XM_011533902.1:c.3402C>A, XM_011533903.4:c.3402C>T, XM_011533903.4:c.3402C>G, XM_011533903.4:c.3402C>A, XM_011533903.3:c.3402C>T, XM_011533903.3:c.3402C>G, XM_011533903.3:c.3402C>A, XM_011533903.2:c.3402C>T, XM_011533903.2:c.3402C>G, XM_011533903.2:c.3402C>A, XM_011533903.1:c.3402C>T, XM_011533903.1:c.3402C>G, XM_011533903.1:c.3402C>A, XM_005265280.4:c.3339C>T, XM_005265280.4:c.3339C>G, XM_005265280.4:c.3339C>A, NM_018165.4:c.3198C>T, NM_018165.4:c.3198C>G, NM_018165.4:c.3198C>A, XM_017006734.3:c.3390C>T, XM_017006734.3:c.3390C>G, XM_017006734.3:c.3390C>A, XM_017006734.2:c.3390C>T, XM_017006734.2:c.3390C>G, XM_017006734.2:c.3390C>A, XM_017006734.1:c.3390C>T, XM_017006734.1:c.3390C>G, XM_017006734.1:c.3390C>A, XM_017006741.3:c.3357C>T, XM_017006741.3:c.3357C>G, XM_017006741.3:c.3357C>A, XM_017006741.2:c.3357C>T, XM_017006741.2:c.3357C>G, XM_017006741.2:c.3357C>A, XM_017006741.1:c.3357C>T, XM_017006741.1:c.3357C>G, XM_017006741.1:c.3357C>A, NM_018165.3:c.3198C>T, NM_018165.3:c.3198C>G, NM_018165.3:c.3198C>A, XM_017006727.2:c.3429C>T, XM_017006727.2:c.3429C>G, XM_017006727.2:c.3429C>A, XM_017006727.1:c.3429C>T, XM_017006727.1:c.3429C>G, XM_017006727.1:c.3429C>A, XM_017006726.2:c.3429C>T, XM_017006726.2:c.3429C>G, XM_017006726.2:c.3429C>A, XM_017006726.1:c.3429C>T, XM_017006726.1:c.3429C>G, XM_017006726.1:c.3429C>A, XM_017006730.2:c.3420C>T, XM_017006730.2:c.3420C>G, XM_017006730.2:c.3420C>A, XM_017006730.1:c.3420C>T, XM_017006730.1:c.3420C>G, XM_017006730.1:c.3420C>A, XM_017006725.2:c.3429C>T, XM_017006725.2:c.3429C>G, XM_017006725.2:c.3429C>A, XM_017006725.1:c.3429C>T, XM_017006725.1:c.3429C>G, XM_017006725.1:c.3429C>A, XM_017006728.2:c.3429C>T, XM_017006728.2:c.3429C>G, XM_017006728.2:c.3429C>A, XM_017006728.1:c.3429C>T, XM_017006728.1:c.3429C>G, XM_017006728.1:c.3429C>A, XM_017006731.2:c.3420C>T, XM_017006731.2:c.3420C>G, XM_017006731.2:c.3420C>A, XM_017006731.1:c.3420C>T, XM_017006731.1:c.3420C>G, XM_017006731.1:c.3420C>A, XM_024453619.2:c.3393C>T, XM_024453619.2:c.3393C>G, XM_024453619.2:c.3393C>A, XM_024453619.1:c.3393C>T, XM_024453619.1:c.3393C>G, XM_024453619.1:c.3393C>A, XM_017006742.2:c.3357C>T, XM_017006742.2:c.3357C>G, XM_017006742.2:c.3357C>A, XM_017006742.1:c.3357C>T, XM_017006742.1:c.3357C>G, XM_017006742.1:c.3357C>A, XM_017006744.2:c.3348C>T, XM_017006744.2:c.3348C>G, XM_017006744.2:c.3348C>A, XM_017006744.1:c.3348C>T, XM_017006744.1:c.3348C>G, XM_017006744.1:c.3348C>A, NM_018165.2:c.3198C>T, NM_018165.2:c.3198C>G, NM_018165.2:c.3198C>A, XM_047448442.1:c.3429C>T, XM_047448442.1:c.3429C>G, XM_047448442.1:c.3429C>A, XM_047448443.1:c.3426C>T, XM_047448443.1:c.3426C>G, XM_047448443.1:c.3426C>A, XM_047448444.1:c.3417C>T, XM_047448444.1:c.3417C>G, XM_047448444.1:c.3417C>A, XM_047448446.1:c.3402C>T, XM_047448446.1:c.3402C>G, XM_047448446.1:c.3402C>A, XM_047448448.1:c.3399C>T, XM_047448448.1:c.3399C>G, XM_047448448.1:c.3399C>A, XM_047448450.1:c.3354C>T, XM_047448450.1:c.3354C>G, XM_047448450.1:c.3354C>A, XM_047448451.1:c.3351C>T, XM_047448451.1:c.3351C>G, XM_047448451.1:c.3351C>A, XM_047448456.1:c.3327C>T, XM_047448456.1:c.3327C>G, XM_047448456.1:c.3327C>A, XM_047448447.1:c.3402C>T, XM_047448447.1:c.3402C>G, XM_047448447.1:c.3402C>A, XM_047448445.1:c.3417C>T, XM_047448445.1:c.3417C>G, XM_047448445.1:c.3417C>A, XM_047448455.1:c.3345C>T, XM_047448455.1:c.3345C>G, XM_047448455.1:c.3345C>A, XM_047448454.1:c.3345C>T, XM_047448454.1:c.3345C>G, XM_047448454.1:c.3345C>A, XM_047448452.1:c.3348C>T, XM_047448452.1:c.3348C>G, XM_047448452.1:c.3348C>A, XM_047448453.1:c.3345C>T, XM_047448453.1:c.3345C>G, XM_047448453.1:c.3345C>A, XM_047448457.1:c.3324C>T, XM_047448457.1:c.3324C>G, XM_047448457.1:c.3324C>A, XM_047448459.1:c.3252C>T, XM_047448459.1:c.3252C>G, XM_047448459.1:c.3252C>A, XM_047448464.1:c.3357C>T, XM_047448464.1:c.3357C>G, XM_047448464.1:c.3357C>A, XM_047448449.1:c.3366C>T, XM_047448449.1:c.3366C>G, XM_047448449.1:c.3366C>A, XM_047448458.1:c.3291C>T, XM_047448458.1:c.3291C>G, XM_047448458.1:c.3291C>A, XM_047448460.1:c.3243C>T, XM_047448460.1:c.3243C>G, XM_047448460.1:c.3243C>A, XM_047448461.1:c.3219C>T, XM_047448461.1:c.3219C>G, XM_047448461.1:c.3219C>A, XM_047448462.1:c.3216C>T, XM_047448462.1:c.3216C>G, XM_047448462.1:c.3216C>A, XM_047448463.1:c.3198C>T, XM_047448463.1:c.3198C>G, XM_047448463.1:c.3198C>A, XM_047448465.1:c.3339C>T, XM_047448465.1:c.3339C>G, XM_047448465.1:c.3339C>A, NM_181041.1:c.*508C>T, NM_181041.1:c.*508C>G, NM_181041.1:c.*508C>A

                    10.

                    rs1476792117 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      3:52617326 (GRCh38)
                      3:52651342 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:52617325:C:A,NC_000003.12:52617325:C:T
                      Gene:
                      PBRM1 (Varview)
                      Functional Consequence:
                      missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000003.12:g.52617326C>A, NC_000003.12:g.52617326C>T, NC_000003.11:g.52651342C>A, NC_000003.11:g.52651342C>T, NG_032108.1:g.73525G>T, NG_032108.1:g.73525G>A, NM_181042.5:c.1754G>T, NM_181042.5:c.1754G>A, NM_181042.4:c.1754G>T, NM_181042.4:c.1754G>A, NM_181042.3:c.1754G>T, NM_181042.3:c.1754G>A, NM_181042.2:c.1754G>T, NM_181042.2:c.1754G>A, NM_181042.1:c.1754G>T, NM_181042.1:c.1754G>A, NM_018313.5:c.1754G>T, NM_018313.5:c.1754G>A, NM_018313.4:c.1754G>T, NM_018313.4:c.1754G>A, NM_001350077.2:c.1853G>T, NM_001350077.2:c.1853G>A, NM_001350077.1:c.1853G>T, NM_001350077.1:c.1853G>A, NM_001350078.2:c.1862G>T, NM_001350078.2:c.1862G>A, NM_001350078.1:c.1862G>T, NM_001350078.1:c.1862G>A, NM_001350074.2:c.1862G>T, NM_001350074.2:c.1862G>A, NM_001350074.1:c.1862G>T, NM_001350074.1:c.1862G>A, NM_001350076.2:c.1862G>T, NM_001350076.2:c.1862G>A, NM_001350076.1:c.1862G>T, NM_001350076.1:c.1862G>A, NM_001366071.2:c.1817G>T, NM_001366071.2:c.1817G>A, NM_001366071.1:c.1817G>T, NM_001366071.1:c.1817G>A, NM_001366074.2:c.1805G>T, NM_001366074.2:c.1805G>A, NM_001366074.1:c.1805G>T, NM_001366074.1:c.1805G>A, NM_001350079.2:c.1817G>T, NM_001350079.2:c.1817G>A, NM_001350079.1:c.1817G>T, NM_001350079.1:c.1817G>A, NM_001366070.2:c.1862G>T, NM_001366070.2:c.1862G>A, NM_001366070.1:c.1862G>T, NM_001366070.1:c.1862G>A, NM_001350075.2:c.1754G>T, NM_001350075.2:c.1754G>A, NM_001350075.1:c.1754G>T, NM_001350075.1:c.1754G>A, NM_001366072.2:c.1817G>T, NM_001366072.2:c.1817G>A, NM_001366072.1:c.1817G>T, NM_001366072.1:c.1817G>A, NM_001366073.2:c.1808G>T, NM_001366073.2:c.1808G>A, NM_001366073.1:c.1808G>T, NM_001366073.1:c.1808G>A, NM_001366075.2:c.1862G>T, NM_001366075.2:c.1862G>A, NM_001366075.1:c.1862G>T, NM_001366075.1:c.1862G>A, NM_001366076.2:c.1757G>T, NM_001366076.2:c.1757G>A, NM_001366076.1:c.1757G>T, NM_001366076.1:c.1757G>A, NM_001405603.1:c.1754G>T, NM_001405603.1:c.1754G>A, NM_001405600.1:c.1808G>T, NM_001405600.1:c.1808G>A, NM_001405552.1:c.1856G>T, NM_001405552.1:c.1856G>A, NM_001394867.1:c.1754G>T, NM_001394867.1:c.1754G>A, NM_001394869.1:c.1754G>T, NM_001394869.1:c.1754G>A, NM_001405594.1:c.1754G>T, NM_001405594.1:c.1754G>A, NM_001405567.1:c.1754G>T, NM_001405567.1:c.1754G>A, NM_001405622.1:c.1817G>T, NM_001405622.1:c.1817G>A, NM_001405588.1:c.1754G>T, NM_001405588.1:c.1754G>A, NM_001405607.1:c.1799G>T, NM_001405607.1:c.1799G>A, NM_001405583.1:c.1754G>T, NM_001405583.1:c.1754G>A, NM_001405637.1:c.1772G>T, NM_001405637.1:c.1772G>A, NM_001405601.1:c.1799G>T, NM_001405601.1:c.1799G>A, NM_001405557.1:c.1754G>T, NM_001405557.1:c.1754G>A, NM_001405561.1:c.1754G>T, NM_001405561.1:c.1754G>A, NM_001405598.1:c.1781G>T, NM_001405598.1:c.1781G>A, NR_175959.1:n.1976G>T, NR_175959.1:n.1976G>A, NM_001405570.1:c.1754G>T, NM_001405570.1:c.1754G>A, NM_001400470.1:c.1754G>T, NM_001400470.1:c.1754G>A, NM_001400472.1:c.1775G>T, NM_001400472.1:c.1775G>A, NM_001405589.1:c.1754G>T, NM_001405589.1:c.1754G>A, NM_001394868.1:c.1754G>T, NM_001394868.1:c.1754G>A, NM_001405629.1:c.1754G>T, NM_001405629.1:c.1754G>A, NM_001405641.1:c.1754G>T, NM_001405641.1:c.1754G>A, NM_001405579.1:c.1754G>T, NM_001405579.1:c.1754G>A, NM_001400479.1:c.1754G>T, NM_001400479.1:c.1754G>A, NM_001405630.1:c.1754G>T, NM_001405630.1:c.1754G>A, NM_001405590.1:c.1754G>T, NM_001405590.1:c.1754G>A, NM_001400475.1:c.1754G>T, NM_001400475.1:c.1754G>A, NM_001400474.1:c.1754G>T, NM_001400474.1:c.1754G>A, NM_001405575.1:c.1754G>T, NM_001405575.1:c.1754G>A, NM_001405632.1:c.1754G>T, NM_001405632.1:c.1754G>A, NR_174502.1:n.1934G>T, NR_174502.1:n.1934G>A, NM_001405553.1:c.1817G>T, NM_001405553.1:c.1817G>A, NM_001394870.1:c.1808G>T, NM_001394870.1:c.1808G>A, NM_001405574.1:c.1808G>T, NM_001405574.1:c.1808G>A, NM_001405623.1:c.1754G>T, NM_001405623.1:c.1754G>A, NM_001405554.1:c.1862G>T, NM_001405554.1:c.1862G>A, NM_001405559.1:c.1754G>T, NM_001405559.1:c.1754G>A, NM_001405639.1:c.1754G>T, NM_001405639.1:c.1754G>A, NM_001405596.1:c.-229G>T, NM_001405596.1:c.-229G>A, NM_001405604.1:c.1658G>T, NM_001405604.1:c.1658G>A, NM_001405558.1:c.1754G>T, NM_001405558.1:c.1754G>A, NM_001405635.1:c.1754G>T, NM_001405635.1:c.1754G>A, NM_001400471.1:c.1799G>T, NM_001400471.1:c.1799G>A, NM_001405606.1:c.1658G>T, NM_001405606.1:c.1658G>A, NM_001405638.1:c.1658G>T, NM_001405638.1:c.1658G>A, NM_001405577.1:c.1754G>T, NM_001405577.1:c.1754G>A, NM_001405571.1:c.1799G>T, NM_001405571.1:c.1799G>A, NM_001405626.1:c.1754G>T, NM_001405626.1:c.1754G>A, NM_001400487.1:c.1658G>T, NM_001400487.1:c.1658G>A, NM_001405593.1:c.1754G>T, NM_001405593.1:c.1754G>A, NM_001405591.1:c.1808G>T, NM_001405591.1:c.1808G>A, NM_001405640.1:c.1754G>T, NM_001405640.1:c.1754G>A, NM_001405568.1:c.1781G>T, NM_001405568.1:c.1781G>A, NM_001405581.1:c.1754G>T, NM_001405581.1:c.1754G>A, NM_001405569.1:c.1781G>T, NM_001405569.1:c.1781G>A, NM_001405625.1:c.116G>T, NM_001405625.1:c.116G>A, NM_001405564.1:c.1781G>T, NM_001405564.1:c.1781G>A, NM_001394871.1:c.1754G>T, NM_001394871.1:c.1754G>A, NM_001405643.1:c.1754G>T, NM_001405643.1:c.1754G>A, NM_001405584.1:c.1754G>T, NM_001405584.1:c.1754G>A, NM_001400473.1:c.1754G>T, NM_001400473.1:c.1754G>A, NM_001405628.1:c.1754G>T, NM_001405628.1:c.1754G>A, NM_001394873.1:c.1754G>T, NM_001394873.1:c.1754G>A, NM_001394872.1:c.1754G>T, NM_001394872.1:c.1754G>A, NM_001405631.1:c.1754G>T, NM_001405631.1:c.1754G>A, NM_001400481.1:c.1754G>T, NM_001400481.1:c.1754G>A, NM_001405578.1:c.1754G>T, NM_001405578.1:c.1754G>A, NM_001394874.1:c.1754G>T, NM_001394874.1:c.1754G>A, NM_001400501.1:c.1754G>T, NM_001400501.1:c.1754G>A, NM_001400500.1:c.1754G>T, NM_001400500.1:c.1754G>A, NM_001394876.1:c.1754G>T, NM_001394876.1:c.1754G>A, NM_001405586.1:c.1781G>T, NM_001405586.1:c.1781G>A, NM_001405595.1:c.1685G>T, NM_001405595.1:c.1685G>A, NM_001400484.1:c.1754G>T, NM_001400484.1:c.1754G>A, NM_001405633.1:c.1754G>T, NM_001405633.1:c.1754G>A, NM_001405565.1:c.1754G>T, NM_001405565.1:c.1754G>A, NM_001405566.1:c.-229G>T, NM_001405566.1:c.-229G>A, NM_001400490.1:c.1754G>T, NM_001400490.1:c.1754G>A, NM_001405634.1:c.1754G>T, NM_001405634.1:c.1754G>A, NM_001405592.1:c.1754G>T, NM_001405592.1:c.1754G>A, NM_001405599.1:c.1658G>T, NM_001405599.1:c.1658G>A, NM_001405582.1:c.1658G>T, NM_001405582.1:c.1658G>A, NM_001405597.1:c.1637G>T, NM_001405597.1:c.1637G>A, NM_001405636.1:c.1781G>T, NM_001405636.1:c.1781G>A, NM_001405556.1:c.1754G>T, NM_001405556.1:c.1754G>A, NM_001405587.1:c.1610G>T, NM_001405587.1:c.1610G>A, NM_001405585.1:c.1754G>T, NM_001405585.1:c.1754G>A, NM_001400496.1:c.1754G>T, NM_001400496.1:c.1754G>A, NM_001405627.1:c.1754G>T, NM_001405627.1:c.1754G>A, NM_001394877.1:c.1754G>T, NM_001394877.1:c.1754G>A, NM_001394875.1:c.1754G>T, NM_001394875.1:c.1754G>A, NM_001405624.1:c.1754G>T, NM_001405624.1:c.1754G>A, NM_001405563.1:c.1754G>T, NM_001405563.1:c.1754G>A, NM_001405572.1:c.1658G>T, NM_001405572.1:c.1658G>A, NM_001405573.1:c.1568G>T, NM_001405573.1:c.1568G>A, NM_001405580.1:c.1781G>T, NM_001405580.1:c.1781G>A, NM_001400504.1:c.1754G>T, NM_001400504.1:c.1754G>A, NM_001405605.1:c.1754G>T, NM_001405605.1:c.1754G>A, NM_001405576.1:c.1754G>T, NM_001405576.1:c.1754G>A, NM_001405602.1:c.1658G>T, NM_001405602.1:c.1658G>A, NM_001405560.1:c.1655G>T, NM_001405560.1:c.1655G>A, NM_001405642.1:c.1655G>T, NM_001405642.1:c.1655G>A, NM_001405555.1:c.1754G>T, NM_001405555.1:c.1754G>A, NM_001405609.1:c.1754G>T, NM_001405609.1:c.1754G>A, NM_001394879.1:c.1658G>T, NM_001394879.1:c.1658G>A, NM_001394878.1:c.1718G>T, NM_001394878.1:c.1718G>A, NM_001405612.1:c.1754G>T, NM_001405612.1:c.1754G>A, NM_001405610.1:c.1754G>T, NM_001405610.1:c.1754G>A, NM_001405608.1:c.617G>T, NM_001405608.1:c.617G>A, NM_001405611.1:c.1754G>T, NM_001405611.1:c.1754G>A, XM_011533900.4:c.1862G>T, XM_011533900.4:c.1862G>A, XM_011533900.3:c.1862G>T, XM_011533900.3:c.1862G>A, XM_011533900.2:c.1862G>T, XM_011533900.2:c.1862G>A, XM_011533900.1:c.1862G>T, XM_011533900.1:c.1862G>A, XM_011533902.4:c.1862G>T, XM_011533902.4:c.1862G>A, XM_011533902.3:c.1862G>T, XM_011533902.3:c.1862G>A, XM_011533902.2:c.1862G>T, XM_011533902.2:c.1862G>A, XM_011533902.1:c.1862G>T, XM_011533902.1:c.1862G>A, XM_011533903.4:c.1862G>T, XM_011533903.4:c.1862G>A, XM_011533903.3:c.1862G>T, XM_011533903.3:c.1862G>A, XM_011533903.2:c.1862G>T, XM_011533903.2:c.1862G>A, XM_011533903.1:c.1862G>T, XM_011533903.1:c.1862G>A, XM_005265280.4:c.1799G>T, XM_005265280.4:c.1799G>A, NM_018165.4:c.1658G>T, NM_018165.4:c.1658G>A, XM_017006734.3:c.1850G>T, XM_017006734.3:c.1850G>A, XM_017006734.2:c.1850G>T, XM_017006734.2:c.1850G>A, XM_017006734.1:c.1850G>T, XM_017006734.1:c.1850G>A, XM_017006741.3:c.1817G>T, XM_017006741.3:c.1817G>A, XM_017006741.2:c.1817G>T, XM_017006741.2:c.1817G>A, XM_017006741.1:c.1817G>T, XM_017006741.1:c.1817G>A, NM_018165.3:c.1658G>T, NM_018165.3:c.1658G>A, XM_017006727.2:c.1889G>T, XM_017006727.2:c.1889G>A, XM_017006727.1:c.1889G>T, XM_017006727.1:c.1889G>A, XM_017006726.2:c.1889G>T, XM_017006726.2:c.1889G>A, XM_017006726.1:c.1889G>T, XM_017006726.1:c.1889G>A, XM_017006730.2:c.1880G>T, XM_017006730.2:c.1880G>A, XM_017006730.1:c.1880G>T, XM_017006730.1:c.1880G>A, XM_017006725.2:c.1889G>T, XM_017006725.2:c.1889G>A, XM_017006725.1:c.1889G>T, XM_017006725.1:c.1889G>A, XM_017006728.2:c.1889G>T, XM_017006728.2:c.1889G>A, XM_017006728.1:c.1889G>T, XM_017006728.1:c.1889G>A, XM_017006731.2:c.1880G>T, XM_017006731.2:c.1880G>A, XM_017006731.1:c.1880G>T, XM_017006731.1:c.1880G>A, XM_024453619.2:c.1853G>T, XM_024453619.2:c.1853G>A, XM_024453619.1:c.1853G>T, XM_024453619.1:c.1853G>A, XM_017006742.2:c.1817G>T, XM_017006742.2:c.1817G>A, XM_017006742.1:c.1817G>T, XM_017006742.1:c.1817G>A, XM_017006744.2:c.1808G>T, XM_017006744.2:c.1808G>A, XM_017006744.1:c.1808G>T, XM_017006744.1:c.1808G>A, NM_018165.2:c.1658G>T, NM_018165.2:c.1658G>A, XM_047448442.1:c.1889G>T, XM_047448442.1:c.1889G>A, XM_047448443.1:c.1889G>T, XM_047448443.1:c.1889G>A, XM_047448444.1:c.1877G>T, XM_047448444.1:c.1877G>A, XM_047448446.1:c.1862G>T, XM_047448446.1:c.1862G>A, XM_047448448.1:c.1862G>T, XM_047448448.1:c.1862G>A, XM_047448450.1:c.1889G>T, XM_047448450.1:c.1889G>A, XM_047448451.1:c.1889G>T, XM_047448451.1:c.1889G>A, XM_047448456.1:c.1862G>T, XM_047448456.1:c.1862G>A, XM_047448447.1:c.1862G>T, XM_047448447.1:c.1862G>A, XM_047448445.1:c.1877G>T, XM_047448445.1:c.1877G>A, XM_047448455.1:c.1805G>T, XM_047448455.1:c.1805G>A, XM_047448454.1:c.1805G>T, XM_047448454.1:c.1805G>A, XM_047448452.1:c.1808G>T, XM_047448452.1:c.1808G>A, XM_047448453.1:c.1808G>T, XM_047448453.1:c.1808G>A, XM_047448457.1:c.1859G>T, XM_047448457.1:c.1859G>A, XM_047448459.1:c.1712G>T, XM_047448459.1:c.1712G>A, XM_047448464.1:c.1817G>T, XM_047448464.1:c.1817G>A, XM_047448449.1:c.1826G>T, XM_047448449.1:c.1826G>A, XM_047448458.1:c.1754G>T, XM_047448458.1:c.1754G>A, XM_047448460.1:c.1703G>T, XM_047448460.1:c.1703G>A, XM_047448461.1:c.1754G>T, XM_047448461.1:c.1754G>A, XM_047448462.1:c.1754G>T, XM_047448462.1:c.1754G>A, XM_047448463.1:c.1658G>T, XM_047448463.1:c.1658G>A, XM_047448465.1:c.1799G>T, XM_047448465.1:c.1799G>A, NM_181041.1:c.1754G>T, NM_181041.1:c.1754G>A, NP_851385.1:p.Gly585Val, NP_851385.1:p.Gly585Glu, NP_060783.3:p.Gly585Val, NP_060783.3:p.Gly585Glu, NP_001337006.1:p.Gly618Val, NP_001337006.1:p.Gly618Glu, NP_001337007.1:p.Gly621Val, NP_001337007.1:p.Gly621Glu, NP_001337003.1:p.Gly621Val, NP_001337003.1:p.Gly621Glu, NP_001337005.1:p.Gly621Val, NP_001337005.1:p.Gly621Glu, NP_001353000.1:p.Gly606Val, NP_001353000.1:p.Gly606Glu, NP_001353003.1:p.Gly602Val, NP_001353003.1:p.Gly602Glu, NP_001337008.1:p.Gly606Val, NP_001337008.1:p.Gly606Glu, NP_001352999.1:p.Gly621Val, NP_001352999.1:p.Gly621Glu, NP_001337004.1:p.Gly585Val, NP_001337004.1:p.Gly585Glu, NP_001353001.1:p.Gly606Val, NP_001353001.1:p.Gly606Glu, NP_001353002.1:p.Gly603Val, NP_001353002.1:p.Gly603Glu, NP_001353004.1:p.Gly621Val, NP_001353004.1:p.Gly621Glu, NP_001353005.1:p.Gly586Val, NP_001353005.1:p.Gly586Glu, NP_001381796.1:p.Gly585Val, NP_001381796.1:p.Gly585Glu, NP_001381798.1:p.Gly585Val, NP_001381798.1:p.Gly585Glu, NP_001387399.1:p.Gly585Val, NP_001387399.1:p.Gly585Glu, NP_001387401.1:p.Gly592Val, NP_001387401.1:p.Gly592Glu, NP_001381797.1:p.Gly585Val, NP_001381797.1:p.Gly585Glu, NP_001387408.1:p.Gly585Val, NP_001387408.1:p.Gly585Glu, NP_001387404.1:p.Gly585Val, NP_001387404.1:p.Gly585Glu, NP_001387403.1:p.Gly585Val, NP_001387403.1:p.Gly585Glu, NP_001381799.1:p.Gly603Val, NP_001381799.1:p.Gly603Glu, NP_001387400.1:p.Gly600Val, NP_001387400.1:p.Gly600Glu, NP_001387416.1:p.Gly553Val, NP_001387416.1:p.Gly553Glu, NP_001381800.1:p.Gly585Val, NP_001381800.1:p.Gly585Glu, NP_001387402.1:p.Gly585Val, NP_001387402.1:p.Gly585Glu, NP_001381802.1:p.Gly585Val, NP_001381802.1:p.Gly585Glu, NP_001381801.1:p.Gly585Val, NP_001381801.1:p.Gly585Glu, NP_001387410.1:p.Gly585Val, NP_001387410.1:p.Gly585Glu, NP_001381803.1:p.Gly585Val, NP_001381803.1:p.Gly585Glu, NP_001387430.1:p.Gly585Val, NP_001387430.1:p.Gly585Glu, NP_001387429.1:p.Gly585Val, NP_001387429.1:p.Gly585Glu, NP_001381805.1:p.Gly585Val, NP_001381805.1:p.Gly585Glu, NP_001387413.1:p.Gly585Val, NP_001387413.1:p.Gly585Glu, NP_001387419.1:p.Gly585Val, NP_001387419.1:p.Gly585Glu, NP_001387425.1:p.Gly585Val, NP_001387425.1:p.Gly585Glu, NP_001381806.1:p.Gly585Val, NP_001381806.1:p.Gly585Glu, NP_001381804.1:p.Gly585Val, NP_001381804.1:p.Gly585Glu, NP_001387433.1:p.Gly585Val, NP_001387433.1:p.Gly585Glu, NP_001381808.1:p.Gly553Val, NP_001381808.1:p.Gly553Glu, NP_001381807.1:p.Gly573Val, NP_001381807.1:p.Gly573Glu, XP_011532202.1:p.Gly621Val, XP_011532202.1:p.Gly621Glu, XP_011532204.1:p.Gly621Val, XP_011532204.1:p.Gly621Glu, XP_011532205.1:p.Gly621Val, XP_011532205.1:p.Gly621Glu, XP_005265337.1:p.Gly600Val, XP_005265337.1:p.Gly600Glu, XP_016862223.1:p.Gly617Val, XP_016862223.1:p.Gly617Glu, XP_016862230.1:p.Gly606Val, XP_016862230.1:p.Gly606Glu, XP_016862216.1:p.Gly630Val, XP_016862216.1:p.Gly630Glu, XP_016862215.1:p.Gly630Val, XP_016862215.1:p.Gly630Glu, XP_016862219.1:p.Gly627Val, XP_016862219.1:p.Gly627Glu, XP_016862214.1:p.Gly630Val, XP_016862214.1:p.Gly630Glu, XP_016862217.1:p.Gly630Val, XP_016862217.1:p.Gly630Glu, XP_016862220.1:p.Gly627Val, XP_016862220.1:p.Gly627Glu, XP_024309387.1:p.Gly618Val, XP_024309387.1:p.Gly618Glu, XP_016862231.1:p.Gly606Val, XP_016862231.1:p.Gly606Glu, XP_016862233.1:p.Gly603Val, XP_016862233.1:p.Gly603Glu, XP_047304398.1:p.Gly630Val, XP_047304398.1:p.Gly630Glu, XP_047304399.1:p.Gly630Val, XP_047304399.1:p.Gly630Glu, XP_047304400.1:p.Gly626Val, XP_047304400.1:p.Gly626Glu, XP_047304402.1:p.Gly621Val, XP_047304402.1:p.Gly621Glu, XP_047304404.1:p.Gly621Val, XP_047304404.1:p.Gly621Glu, XP_047304406.1:p.Gly630Val, XP_047304406.1:p.Gly630Glu, XP_047304407.1:p.Gly630Val, XP_047304407.1:p.Gly630Glu, XP_047304412.1:p.Gly621Val, XP_047304412.1:p.Gly621Glu, XP_047304403.1:p.Gly621Val, XP_047304403.1:p.Gly621Glu, XP_047304401.1:p.Gly626Val, XP_047304401.1:p.Gly626Glu, XP_047304411.1:p.Gly602Val, XP_047304411.1:p.Gly602Glu, XP_047304410.1:p.Gly602Val, XP_047304410.1:p.Gly602Glu, XP_047304408.1:p.Gly603Val, XP_047304408.1:p.Gly603Glu, XP_047304409.1:p.Gly603Val, XP_047304409.1:p.Gly603Glu, XP_047304413.1:p.Gly620Val, XP_047304413.1:p.Gly620Glu, XP_047304415.1:p.Gly571Val, XP_047304415.1:p.Gly571Glu, XP_047304420.1:p.Gly606Val, XP_047304420.1:p.Gly606Glu, XP_047304405.1:p.Gly609Val, XP_047304405.1:p.Gly609Glu, XP_047304414.1:p.Gly585Val, XP_047304414.1:p.Gly585Glu, XP_047304416.1:p.Gly568Val, XP_047304416.1:p.Gly568Glu, XP_047304417.1:p.Gly585Val, XP_047304417.1:p.Gly585Glu, XP_047304418.1:p.Gly585Val, XP_047304418.1:p.Gly585Glu, XP_047304419.1:p.Gly553Val, XP_047304419.1:p.Gly553Glu, XP_047304421.1:p.Gly600Val, XP_047304421.1:p.Gly600Glu

                      11.

                      rs1475875374 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        3:52609320 (GRCh38)
                        3:52643336 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:52609319:T:C
                        Gene:
                        PBRM1 (Varview)
                        Functional Consequence:
                        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000003.12:g.52609320T>C, NC_000003.11:g.52643336T>C, NG_032108.1:g.81531A>G, NM_181042.5:c.2560A>G, NM_181042.4:c.2560A>G, NM_181042.3:c.2560A>G, NM_181042.2:c.2560A>G, NM_181042.1:c.2560A>G, NM_018313.5:c.2560A>G, NM_018313.4:c.2560A>G, NM_001350077.2:c.2659A>G, NM_001350077.1:c.2659A>G, NM_001350078.2:c.2668A>G, NM_001350078.1:c.2668A>G, NM_001350074.2:c.2668A>G, NM_001350074.1:c.2668A>G, NM_001350076.2:c.2668A>G, NM_001350076.1:c.2668A>G, NM_001366071.2:c.2623A>G, NM_001366071.1:c.2623A>G, NM_001366074.2:c.2611A>G, NM_001366074.1:c.2611A>G, NM_001350079.2:c.2623A>G, NM_001350079.1:c.2623A>G, NM_001366070.2:c.2668A>G, NM_001366070.1:c.2668A>G, NM_001350075.2:c.2560A>G, NM_001350075.1:c.2560A>G, NM_001366072.2:c.2623A>G, NM_001366072.1:c.2623A>G, NM_001366073.2:c.2614A>G, NM_001366073.1:c.2614A>G, NM_001366075.2:c.2668A>G, NM_001366075.1:c.2668A>G, NM_001366076.2:c.2563A>G, NM_001366076.1:c.2563A>G, NM_001405603.1:c.2560A>G, NM_001405600.1:c.2614A>G, NM_001405552.1:c.2662A>G, NM_001394867.1:c.2560A>G, NM_001394869.1:c.2560A>G, NM_001405594.1:c.2560A>G, NM_001405567.1:c.2560A>G, NM_001405622.1:c.2623A>G, NM_001405588.1:c.2560A>G, NM_001405607.1:c.2605A>G, NM_001405583.1:c.2560A>G, NM_001405637.1:c.2578A>G, NM_001405601.1:c.2605A>G, NM_001405557.1:c.2560A>G, NM_001405561.1:c.2560A>G, NM_001405598.1:c.2587A>G, NR_175959.1:n.2782A>G, NM_001405570.1:c.2560A>G, NM_001400470.1:c.2560A>G, NM_001400472.1:c.2581A>G, NM_001405589.1:c.2560A>G, NM_001394868.1:c.2560A>G, NM_001405629.1:c.2560A>G, NM_001405641.1:c.2560A>G, NM_001405579.1:c.2560A>G, NM_001400479.1:c.2560A>G, NM_001405630.1:c.2560A>G, NM_001405590.1:c.2560A>G, NM_001400475.1:c.2560A>G, NM_001400474.1:c.2560A>G, NM_001405575.1:c.2560A>G, NM_001405632.1:c.2560A>G, NR_174502.1:n.2740A>G, NM_001405553.1:c.2623A>G, NM_001394870.1:c.2614A>G, NM_001405574.1:c.2614A>G, NM_001405623.1:c.2560A>G, NM_001405554.1:c.2668A>G, NM_001405559.1:c.2560A>G, NM_001405639.1:c.2560A>G, NM_001405596.1:c.652A>G, NM_001405604.1:c.2464A>G, NM_001405558.1:c.2560A>G, NM_001405635.1:c.2560A>G, NM_001400471.1:c.2605A>G, NM_001405606.1:c.2464A>G, NM_001405638.1:c.2464A>G, NM_001405577.1:c.2560A>G, NM_001405571.1:c.2605A>G, NM_001405626.1:c.2560A>G, NM_001400487.1:c.2464A>G, NM_001405593.1:c.2560A>G, NM_001405591.1:c.2614A>G, NM_001405640.1:c.2560A>G, NM_001405568.1:c.2587A>G, NM_001405581.1:c.2560A>G, NM_001405569.1:c.2587A>G, NM_001405625.1:c.922A>G, NM_001405564.1:c.2587A>G, NM_001394871.1:c.2560A>G, NM_001405643.1:c.2560A>G, NM_001405584.1:c.2560A>G, NM_001400473.1:c.2560A>G, NM_001405628.1:c.2560A>G, NM_001394873.1:c.2560A>G, NM_001394872.1:c.2560A>G, NM_001405631.1:c.2560A>G, NM_001400481.1:c.2560A>G, NM_001405578.1:c.2560A>G, NM_001394874.1:c.2560A>G, NM_001400501.1:c.2560A>G, NM_001400500.1:c.2560A>G, NM_001394876.1:c.2560A>G, NM_001405586.1:c.2587A>G, NM_001405595.1:c.2491A>G, NM_001400484.1:c.2560A>G, NM_001405633.1:c.2560A>G, NM_001405565.1:c.2560A>G, NM_001405566.1:c.652A>G, NM_001400490.1:c.2560A>G, NM_001405634.1:c.2560A>G, NM_001405592.1:c.2560A>G, NM_001405599.1:c.2464A>G, NM_001405582.1:c.2464A>G, NM_001405597.1:c.2443A>G, NM_001405636.1:c.2587A>G, NM_001405556.1:c.2560A>G, NM_001405587.1:c.2416A>G, NM_001405585.1:c.2560A>G, NM_001400496.1:c.2560A>G, NM_001405627.1:c.2560A>G, NM_001394877.1:c.2560A>G, NM_001394875.1:c.2560A>G, NM_001405624.1:c.2560A>G, NM_001405563.1:c.2560A>G, NM_001405572.1:c.2464A>G, NM_001405573.1:c.2374A>G, NM_001405580.1:c.2587A>G, NM_001400504.1:c.2560A>G, NM_001405605.1:c.2560A>G, NM_001405576.1:c.2560A>G, NM_001405602.1:c.2464A>G, NM_001405560.1:c.2461A>G, NM_001405642.1:c.2461A>G, NM_001405555.1:c.2560A>G, NM_001405609.1:c.2560A>G, NM_001394879.1:c.2464A>G, NM_001394878.1:c.2524A>G, NM_001405612.1:c.2560A>G, NM_001405610.1:c.2560A>G, NM_001405608.1:c.1423A>G, NM_001405611.1:c.2560A>G, XM_011533900.4:c.2668A>G, XM_011533900.3:c.2668A>G, XM_011533900.2:c.2668A>G, XM_011533900.1:c.2668A>G, XM_011533902.4:c.2668A>G, XM_011533902.3:c.2668A>G, XM_011533902.2:c.2668A>G, XM_011533902.1:c.2668A>G, XM_011533903.4:c.2668A>G, XM_011533903.3:c.2668A>G, XM_011533903.2:c.2668A>G, XM_011533903.1:c.2668A>G, XM_005265280.4:c.2605A>G, NM_018165.4:c.2464A>G, XM_017006734.3:c.2656A>G, XM_017006734.2:c.2656A>G, XM_017006734.1:c.2656A>G, XM_017006741.3:c.2623A>G, XM_017006741.2:c.2623A>G, XM_017006741.1:c.2623A>G, NM_018165.3:c.2464A>G, XM_017006727.2:c.2695A>G, XM_017006727.1:c.2695A>G, XM_017006726.2:c.2695A>G, XM_017006726.1:c.2695A>G, XM_017006730.2:c.2686A>G, XM_017006730.1:c.2686A>G, XM_017006725.2:c.2695A>G, XM_017006725.1:c.2695A>G, XM_017006728.2:c.2695A>G, XM_017006728.1:c.2695A>G, XM_017006731.2:c.2686A>G, XM_017006731.1:c.2686A>G, XM_024453619.2:c.2659A>G, XM_024453619.1:c.2659A>G, XM_017006742.2:c.2623A>G, XM_017006742.1:c.2623A>G, XM_017006744.2:c.2614A>G, XM_017006744.1:c.2614A>G, NM_018165.2:c.2464A>G, XM_047448442.1:c.2695A>G, XM_047448443.1:c.2695A>G, XM_047448444.1:c.2683A>G, XM_047448446.1:c.2668A>G, XM_047448448.1:c.2668A>G, XM_047448450.1:c.2695A>G, XM_047448451.1:c.2695A>G, XM_047448456.1:c.2668A>G, XM_047448447.1:c.2668A>G, XM_047448445.1:c.2683A>G, XM_047448455.1:c.2611A>G, XM_047448454.1:c.2611A>G, XM_047448452.1:c.2614A>G, XM_047448453.1:c.2614A>G, XM_047448457.1:c.2665A>G, XM_047448459.1:c.2518A>G, XM_047448464.1:c.2623A>G, XM_047448449.1:c.2632A>G, XM_047448458.1:c.2560A>G, XM_047448460.1:c.2509A>G, XM_047448461.1:c.2560A>G, XM_047448462.1:c.2560A>G, XM_047448463.1:c.2464A>G, XM_047448465.1:c.2605A>G, NM_181041.1:c.2560A>G, NP_851385.1:p.Met854Val, NP_060783.3:p.Met854Val, NP_001337006.1:p.Met887Val, NP_001337007.1:p.Met890Val, NP_001337003.1:p.Met890Val, NP_001337005.1:p.Met890Val, NP_001353000.1:p.Met875Val, NP_001353003.1:p.Met871Val, NP_001337008.1:p.Met875Val, NP_001352999.1:p.Met890Val, NP_001337004.1:p.Met854Val, NP_001353001.1:p.Met875Val, NP_001353002.1:p.Met872Val, NP_001353004.1:p.Met890Val, NP_001353005.1:p.Met855Val, NP_001381796.1:p.Met854Val, NP_001381798.1:p.Met854Val, NP_001387399.1:p.Met854Val, NP_001387401.1:p.Met861Val, NP_001381797.1:p.Met854Val, NP_001387408.1:p.Met854Val, NP_001387404.1:p.Met854Val, NP_001387403.1:p.Met854Val, NP_001381799.1:p.Met872Val, NP_001387400.1:p.Met869Val, NP_001387416.1:p.Met822Val, NP_001381800.1:p.Met854Val, NP_001387402.1:p.Met854Val, NP_001381802.1:p.Met854Val, NP_001381801.1:p.Met854Val, NP_001387410.1:p.Met854Val, NP_001381803.1:p.Met854Val, NP_001387430.1:p.Met854Val, NP_001387429.1:p.Met854Val, NP_001381805.1:p.Met854Val, NP_001387413.1:p.Met854Val, NP_001387419.1:p.Met854Val, NP_001387425.1:p.Met854Val, NP_001381806.1:p.Met854Val, NP_001381804.1:p.Met854Val, NP_001387433.1:p.Met854Val, NP_001381808.1:p.Met822Val, NP_001381807.1:p.Met842Val, XP_011532202.1:p.Met890Val, XP_011532204.1:p.Met890Val, XP_011532205.1:p.Met890Val, XP_005265337.1:p.Met869Val, XP_016862223.1:p.Met886Val, XP_016862230.1:p.Met875Val, XP_016862216.1:p.Met899Val, XP_016862215.1:p.Met899Val, XP_016862219.1:p.Met896Val, XP_016862214.1:p.Met899Val, XP_016862217.1:p.Met899Val, XP_016862220.1:p.Met896Val, XP_024309387.1:p.Met887Val, XP_016862231.1:p.Met875Val, XP_016862233.1:p.Met872Val, XP_047304398.1:p.Met899Val, XP_047304399.1:p.Met899Val, XP_047304400.1:p.Met895Val, XP_047304402.1:p.Met890Val, XP_047304404.1:p.Met890Val, XP_047304406.1:p.Met899Val, XP_047304407.1:p.Met899Val, XP_047304412.1:p.Met890Val, XP_047304403.1:p.Met890Val, XP_047304401.1:p.Met895Val, XP_047304411.1:p.Met871Val, XP_047304410.1:p.Met871Val, XP_047304408.1:p.Met872Val, XP_047304409.1:p.Met872Val, XP_047304413.1:p.Met889Val, XP_047304415.1:p.Met840Val, XP_047304420.1:p.Met875Val, XP_047304405.1:p.Met878Val, XP_047304414.1:p.Met854Val, XP_047304416.1:p.Met837Val, XP_047304417.1:p.Met854Val, XP_047304418.1:p.Met854Val, XP_047304419.1:p.Met822Val, XP_047304421.1:p.Met869Val

                        12.

                        rs1475165913 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          3:52589108 (GRCh38)
                          3:52623124 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:52589107:T:C
                          Gene:
                          PBRM1 (Varview)
                          Functional Consequence:
                          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000003.12:g.52589108T>C, NC_000003.11:g.52623124T>C, NG_032108.1:g.101743A>G, NM_181042.5:c.2927A>G, NM_181042.4:c.2927A>G, NM_181042.3:c.2927A>G, NM_181042.2:c.2927A>G, NM_181042.1:c.2927A>G, NM_018313.5:c.2927A>G, NM_018313.4:c.2927A>G, NM_001350077.2:c.3026A>G, NM_001350077.1:c.3026A>G, NM_001350078.2:c.3035A>G, NM_001350078.1:c.3035A>G, NM_001350074.2:c.3035A>G, NM_001350074.1:c.3035A>G, NM_001350076.2:c.3032A>G, NM_001350076.1:c.3032A>G, NM_001366071.2:c.2990A>G, NM_001366071.1:c.2990A>G, NM_001366074.2:c.2978A>G, NM_001366074.1:c.2978A>G, NM_001350079.2:c.2990A>G, NM_001350079.1:c.2990A>G, NM_001366070.2:c.3035A>G, NM_001366070.1:c.3035A>G, NM_001350075.2:c.2927A>G, NM_001350075.1:c.2927A>G, NM_001366072.2:c.2990A>G, NM_001366072.1:c.2990A>G, NM_001366073.2:c.2981A>G, NM_001366073.1:c.2981A>G, NM_001366075.2:c.3035A>G, NM_001366075.1:c.3035A>G, NM_001366076.2:c.2930A>G, NM_001366076.1:c.2930A>G, NM_001405603.1:c.2927A>G, NM_001405600.1:c.2981A>G, NM_001405552.1:c.3029A>G, NM_001394867.1:c.2927A>G, NM_001394869.1:c.2927A>G, NM_001405594.1:c.2927A>G, NM_001405567.1:c.2924A>G, NM_001405622.1:c.2990A>G, NM_001405588.1:c.2927A>G, NM_001405607.1:c.2972A>G, NM_001405583.1:c.2927A>G, NM_001405637.1:c.2945A>G, NM_001405601.1:c.2972A>G, NM_001405557.1:c.2927A>G, NM_001405561.1:c.2924A>G, NM_001405598.1:c.2954A>G, NR_175959.1:n.3149A>G, NM_001405570.1:c.2927A>G, NM_001400470.1:c.2927A>G, NM_001400472.1:c.2948A>G, NM_001405589.1:c.2924A>G, NM_001394868.1:c.2927A>G, NM_001405629.1:c.2924A>G, NM_001405641.1:c.2927A>G, NM_001405579.1:c.2924A>G, NM_001400479.1:c.2927A>G, NM_001405630.1:c.2927A>G, NM_001405590.1:c.2924A>G, NM_001400475.1:c.2927A>G, NM_001400474.1:c.2927A>G, NM_001405575.1:c.2924A>G, NM_001405632.1:c.2924A>G, NR_174502.1:n.3107A>G, NM_001405553.1:c.2990A>G, NM_001394870.1:c.2981A>G, NM_001405574.1:c.2978A>G, NM_001405623.1:c.2927A>G, NM_001405554.1:c.3032A>G, NM_001405559.1:c.2927A>G, NM_001405639.1:c.2927A>G, NM_001405596.1:c.1019A>G, NM_001405604.1:c.2831A>G, NM_001405558.1:c.2927A>G, NM_001405635.1:c.2927A>G, NM_001400471.1:c.2972A>G, NM_001405606.1:c.2831A>G, NM_001405638.1:c.2831A>G, NM_001405577.1:c.2927A>G, NM_001405571.1:c.2972A>G, NM_001405626.1:c.2927A>G, NM_001400487.1:c.2831A>G, NM_001405593.1:c.2927A>G, NM_001405591.1:c.2981A>G, NM_001405640.1:c.2927A>G, NM_001405568.1:c.2954A>G, NM_001405581.1:c.2927A>G, NM_001405569.1:c.2951A>G, NM_001405625.1:c.1286A>G, NM_001405564.1:c.2954A>G, NM_001394871.1:c.2927A>G, NM_001405643.1:c.2927A>G, NM_001405584.1:c.2927A>G, NM_001400473.1:c.2924A>G, NM_001405628.1:c.2927A>G, NM_001394873.1:c.2924A>G, NM_001394872.1:c.2927A>G, NM_001405631.1:c.2927A>G, NM_001400481.1:c.2924A>G, NM_001405578.1:c.2924A>G, NM_001394874.1:c.2924A>G, NM_001400501.1:c.2927A>G, NM_001400500.1:c.2927A>G, NM_001394876.1:c.2924A>G, NM_001405586.1:c.2951A>G, NM_001405595.1:c.2858A>G, NM_001400484.1:c.2927A>G, NM_001405633.1:c.2927A>G, NM_001405565.1:c.2927A>G, NM_001405566.1:c.1019A>G, NM_001400490.1:c.2927A>G, NM_001405634.1:c.2927A>G, NM_001405592.1:c.2927A>G, NM_001405599.1:c.2831A>G, NM_001405582.1:c.2831A>G, NM_001405597.1:c.2810A>G, NM_001405636.1:c.2954A>G, NM_001405556.1:c.2927A>G, NM_001405587.1:c.2783A>G, NM_001405585.1:c.2924A>G, NM_001400496.1:c.2927A>G, NM_001405627.1:c.2927A>G, NM_001394877.1:c.2924A>G, NM_001394875.1:c.2927A>G, NM_001405624.1:c.2924A>G, NM_001405563.1:c.2924A>G, NM_001405572.1:c.2828A>G, NM_001405573.1:c.2738A>G, NM_001405580.1:c.2954A>G, NM_001400504.1:c.2927A>G, NM_001405605.1:c.2927A>G, NM_001405576.1:c.2924A>G, NM_001405602.1:c.2828A>G, NM_001405560.1:c.2828A>G, NM_001405642.1:c.2828A>G, NM_001405555.1:c.2927A>G, NM_001405609.1:c.2927A>G, NM_001394879.1:c.2831A>G, NM_001394878.1:c.2891A>G, NM_001405612.1:c.2927A>G, NM_001405610.1:c.2927A>G, NM_001405608.1:c.1790A>G, NM_001405611.1:c.2924A>G, XM_011533900.4:c.3035A>G, XM_011533900.3:c.3035A>G, XM_011533900.2:c.3035A>G, XM_011533900.1:c.3035A>G, XM_011533902.4:c.3035A>G, XM_011533902.3:c.3035A>G, XM_011533902.2:c.3035A>G, XM_011533902.1:c.3035A>G, XM_011533903.4:c.3035A>G, XM_011533903.3:c.3035A>G, XM_011533903.2:c.3035A>G, XM_011533903.1:c.3035A>G, XM_005265280.4:c.2972A>G, NM_018165.4:c.2831A>G, XM_017006734.3:c.3023A>G, XM_017006734.2:c.3023A>G, XM_017006734.1:c.3023A>G, XM_017006741.3:c.2990A>G, XM_017006741.2:c.2990A>G, XM_017006741.1:c.2990A>G, NM_018165.3:c.2831A>G, XM_017006727.2:c.3062A>G, XM_017006727.1:c.3062A>G, XM_017006726.2:c.3062A>G, XM_017006726.1:c.3062A>G, XM_017006730.2:c.3053A>G, XM_017006730.1:c.3053A>G, XM_017006725.2:c.3062A>G, XM_017006725.1:c.3062A>G, XM_017006728.2:c.3062A>G, XM_017006728.1:c.3062A>G, XM_017006731.2:c.3053A>G, XM_017006731.1:c.3053A>G, XM_024453619.2:c.3026A>G, XM_024453619.1:c.3026A>G, XM_017006742.2:c.2990A>G, XM_017006742.1:c.2990A>G, XM_017006744.2:c.2981A>G, XM_017006744.1:c.2981A>G, NM_018165.2:c.2831A>G, XM_047448442.1:c.3062A>G, XM_047448443.1:c.3059A>G, XM_047448444.1:c.3050A>G, XM_047448446.1:c.3035A>G, XM_047448448.1:c.3032A>G, XM_047448450.1:c.3062A>G, XM_047448451.1:c.3059A>G, XM_047448456.1:c.3035A>G, XM_047448447.1:c.3035A>G, XM_047448445.1:c.3050A>G, XM_047448455.1:c.2978A>G, XM_047448454.1:c.2978A>G, XM_047448452.1:c.2981A>G, XM_047448453.1:c.2978A>G, XM_047448457.1:c.3032A>G, XM_047448459.1:c.2885A>G, XM_047448464.1:c.2990A>G, XM_047448449.1:c.2999A>G, XM_047448458.1:c.2924A>G, XM_047448460.1:c.2876A>G, XM_047448461.1:c.2927A>G, XM_047448462.1:c.2924A>G, XM_047448463.1:c.2831A>G, XM_047448465.1:c.2972A>G, NM_181041.1:c.*141A>G, NP_851385.1:p.His976Arg, NP_060783.3:p.His976Arg, NP_001337006.1:p.His1009Arg, NP_001337007.1:p.His1012Arg, NP_001337003.1:p.His1012Arg, NP_001337005.1:p.His1011Arg, NP_001353000.1:p.His997Arg, NP_001353003.1:p.His993Arg, NP_001337008.1:p.His997Arg, NP_001352999.1:p.His1012Arg, NP_001337004.1:p.His976Arg, NP_001353001.1:p.His997Arg, NP_001353002.1:p.His994Arg, NP_001353004.1:p.His1012Arg, NP_001353005.1:p.His977Arg, NP_001381796.1:p.His976Arg, NP_001381798.1:p.His976Arg, NP_001387399.1:p.His976Arg, NP_001387401.1:p.His983Arg, NP_001381797.1:p.His976Arg, NP_001387408.1:p.His976Arg, NP_001387404.1:p.His976Arg, NP_001387403.1:p.His976Arg, NP_001381799.1:p.His994Arg, NP_001387400.1:p.His991Arg, NP_001387416.1:p.His944Arg, NP_001381800.1:p.His976Arg, NP_001387402.1:p.His975Arg, NP_001381802.1:p.His975Arg, NP_001381801.1:p.His976Arg, NP_001387410.1:p.His975Arg, NP_001381803.1:p.His975Arg, NP_001387430.1:p.His976Arg, NP_001387429.1:p.His976Arg, NP_001381805.1:p.His975Arg, NP_001387413.1:p.His976Arg, NP_001387419.1:p.His976Arg, NP_001387425.1:p.His976Arg, NP_001381806.1:p.His975Arg, NP_001381804.1:p.His976Arg, NP_001387433.1:p.His976Arg, NP_001381808.1:p.His944Arg, NP_001381807.1:p.His964Arg, XP_011532202.1:p.His1012Arg, XP_011532204.1:p.His1012Arg, XP_011532205.1:p.His1012Arg, XP_005265337.1:p.His991Arg, XP_016862223.1:p.His1008Arg, XP_016862230.1:p.His997Arg, XP_016862216.1:p.His1021Arg, XP_016862215.1:p.His1021Arg, XP_016862219.1:p.His1018Arg, XP_016862214.1:p.His1021Arg, XP_016862217.1:p.His1021Arg, XP_016862220.1:p.His1018Arg, XP_024309387.1:p.His1009Arg, XP_016862231.1:p.His997Arg, XP_016862233.1:p.His994Arg, XP_047304398.1:p.His1021Arg, XP_047304399.1:p.His1020Arg, XP_047304400.1:p.His1017Arg, XP_047304402.1:p.His1012Arg, XP_047304404.1:p.His1011Arg, XP_047304406.1:p.His1021Arg, XP_047304407.1:p.His1020Arg, XP_047304412.1:p.His1012Arg, XP_047304403.1:p.His1012Arg, XP_047304401.1:p.His1017Arg, XP_047304411.1:p.His993Arg, XP_047304410.1:p.His993Arg, XP_047304408.1:p.His994Arg, XP_047304409.1:p.His993Arg, XP_047304413.1:p.His1011Arg, XP_047304415.1:p.His962Arg, XP_047304420.1:p.His997Arg, XP_047304405.1:p.His1000Arg, XP_047304414.1:p.His975Arg, XP_047304416.1:p.His959Arg, XP_047304417.1:p.His976Arg, XP_047304418.1:p.His975Arg, XP_047304419.1:p.His944Arg, XP_047304421.1:p.His991Arg

                          13.

                          rs1474980154 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            3:52554866 (GRCh38)
                            3:52588882 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:52554865:G:A,NC_000003.12:52554865:G:T
                            Gene:
                            PBRM1 (Varview), LOC124909379 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000003.12:g.52554866G>A, NC_000003.12:g.52554866G>T, NC_000003.11:g.52588882G>A, NC_000003.11:g.52588882G>T, NG_032108.1:g.135985C>T, NG_032108.1:g.135985C>A, NM_018313.5:c.4146C>T, NM_018313.5:c.4146C>A, NM_018313.4:c.4146C>T, NM_018313.4:c.4146C>A, NM_001350075.2:c.4302C>T, NM_001350075.2:c.4302C>A, NM_001350075.1:c.4302C>T, NM_001350075.1:c.4302C>A, NM_001405603.1:c.4467C>T, NM_001405603.1:c.4467C>A, NM_001405600.1:c.4356C>T, NM_001405600.1:c.4356C>A, NM_001394867.1:c.4467C>T, NM_001394867.1:c.4467C>A, NM_001394869.1:c.4467C>T, NM_001394869.1:c.4467C>A, NM_001405594.1:c.4467C>T, NM_001405594.1:c.4467C>A, NM_001405567.1:c.4464C>T, NM_001405567.1:c.4464C>A, NM_001405622.1:c.4365C>T, NM_001405622.1:c.4365C>A, NM_001405588.1:c.4392C>T, NM_001405588.1:c.4392C>A, NM_001405607.1:c.4512C>T, NM_001405607.1:c.4512C>A, NM_001405637.1:c.4320C>T, NM_001405637.1:c.4320C>A, NM_001405601.1:c.4512C>T, NM_001405601.1:c.4512C>A, NM_001405557.1:c.4302C>T, NM_001405557.1:c.4302C>A, NM_001405561.1:c.4299C>T, NM_001405561.1:c.4299C>A, NM_001405598.1:c.4494C>T, NM_001405598.1:c.4494C>A, NR_175959.1:n.4524C>T, NR_175959.1:n.4524C>A, NM_001405570.1:c.4473C>T, NM_001405570.1:c.4473C>A, NM_001400470.1:c.4467C>T, NM_001400470.1:c.4467C>A, NM_001400472.1:c.4323C>T, NM_001400472.1:c.4323C>A, NM_001405589.1:c.4464C>T, NM_001405589.1:c.4464C>A, NM_001394868.1:c.4467C>T, NM_001394868.1:c.4467C>A, NM_001405629.1:c.4464C>T, NM_001405629.1:c.4464C>A, NM_001400479.1:c.4302C>T, NM_001400479.1:c.4302C>A, NM_001405630.1:c.4302C>T, NM_001405630.1:c.4302C>A, NM_001405590.1:c.4299C>T, NM_001405590.1:c.4299C>A, NM_001400475.1:c.4302C>T, NM_001400475.1:c.4302C>A, NM_001400474.1:c.4302C>T, NM_001400474.1:c.4302C>A, NM_001405575.1:c.4299C>T, NM_001405575.1:c.4299C>A, NM_001405632.1:c.4299C>T, NM_001405632.1:c.4299C>A, NR_174502.1:n.4482C>T, NR_174502.1:n.4482C>A, NM_001405553.1:c.4365C>T, NM_001405553.1:c.4365C>A, NM_001394870.1:c.4356C>T, NM_001394870.1:c.4356C>A, NM_001405574.1:c.4353C>T, NM_001405574.1:c.4353C>A, NM_001405623.1:c.4302C>T, NM_001405623.1:c.4302C>A, NM_001405554.1:c.4407C>T, NM_001405554.1:c.4407C>A, NM_001405559.1:c.4392C>T, NM_001405559.1:c.4392C>A, NM_001405639.1:c.4392C>T, NM_001405639.1:c.4392C>A, NM_001405596.1:c.2394C>T, NM_001405596.1:c.2394C>A, NM_001405604.1:c.4371C>T, NM_001405604.1:c.4371C>A, NM_001405558.1:c.4227C>T, NM_001405558.1:c.4227C>A, NM_001405635.1:c.4227C>T, NM_001405635.1:c.4227C>A, NM_001400471.1:c.4356C>T, NM_001400471.1:c.4356C>A, NM_001405606.1:c.4206C>T, NM_001405606.1:c.4206C>A, NM_001405638.1:c.4206C>T, NM_001405638.1:c.4206C>A, NM_001405571.1:c.4347C>T, NM_001405571.1:c.4347C>A, NM_001400487.1:c.4206C>T, NM_001400487.1:c.4206C>A, NM_001405591.1:c.4281C>T, NM_001405591.1:c.4281C>A, NM_001405568.1:c.4329C>T, NM_001405568.1:c.4329C>A, NM_001405581.1:c.4467C>T, NM_001405581.1:c.4467C>A, NM_001405569.1:c.4326C>T, NM_001405569.1:c.4326C>A, NM_001405625.1:c.2826C>T, NM_001405625.1:c.2826C>A, NM_001405628.1:c.4302C>T, NM_001405628.1:c.4302C>A, NM_001394873.1:c.4299C>T, NM_001394873.1:c.4299C>A, NM_001394872.1:c.4302C>T, NM_001394872.1:c.4302C>A, NM_001405631.1:c.4302C>T, NM_001405631.1:c.4302C>A, NM_001400481.1:c.4299C>T, NM_001400481.1:c.4299C>A, NM_001405578.1:c.4299C>T, NM_001405578.1:c.4299C>A, NM_001394874.1:c.4299C>T, NM_001394874.1:c.4299C>A, NM_001405586.1:c.4251C>T, NM_001405586.1:c.4251C>A, NM_001405595.1:c.4233C>T, NM_001405595.1:c.4233C>A, NM_001400484.1:c.4227C>T, NM_001400484.1:c.4227C>A, NM_001405633.1:c.4227C>T, NM_001405633.1:c.4227C>A, NM_001405565.1:c.4227C>T, NM_001405565.1:c.4227C>A, NM_001405599.1:c.4206C>T, NM_001405599.1:c.4206C>A, NM_001405582.1:c.4206C>T, NM_001405582.1:c.4206C>A, NM_001405597.1:c.4185C>T, NM_001405597.1:c.4185C>A, NM_001405556.1:c.4302C>T, NM_001405556.1:c.4302C>A, NM_001405587.1:c.4158C>T, NM_001405587.1:c.4158C>A, NM_001405585.1:c.4299C>T, NM_001405585.1:c.4299C>A, NM_001405572.1:c.4128C>T, NM_001405572.1:c.4128C>A, NM_001405573.1:c.4113C>T, NM_001405573.1:c.4113C>A, NM_001405609.1:c.4302C>T, NM_001405609.1:c.4302C>A, NM_001405608.1:c.3090C>T, NM_001405608.1:c.3090C>A, XM_011533900.4:c.4575C>T, XM_011533900.4:c.4575C>A, XM_011533900.3:c.4575C>T, XM_011533900.3:c.4575C>A, XM_011533900.2:c.4575C>T, XM_011533900.2:c.4575C>A, XM_011533900.1:c.4575C>T, XM_011533900.1:c.4575C>A, XM_011533902.4:c.4575C>T, XM_011533902.4:c.4575C>A, XM_011533902.3:c.4575C>T, XM_011533902.3:c.4575C>A, XM_011533902.2:c.4575C>T, XM_011533902.2:c.4575C>A, XM_011533902.1:c.4575C>T, XM_011533902.1:c.4575C>A, XM_011533903.4:c.4575C>T, XM_011533903.4:c.4575C>A, XM_011533903.3:c.4575C>T, XM_011533903.3:c.4575C>A, XM_011533903.2:c.4575C>T, XM_011533903.2:c.4575C>A, XM_011533903.1:c.4575C>T, XM_011533903.1:c.4575C>A, XM_005265280.4:c.4512C>T, XM_005265280.4:c.4512C>A, NM_018165.4:c.4206C>T, NM_018165.4:c.4206C>A, XM_017006734.3:c.4563C>T, XM_017006734.3:c.4563C>A, XM_017006734.2:c.4563C>T, XM_017006734.2:c.4563C>A, XM_017006734.1:c.4563C>T, XM_017006734.1:c.4563C>A, XM_017006741.3:c.4530C>T, XM_017006741.3:c.4530C>A, XM_017006741.2:c.4530C>T, XM_017006741.2:c.4530C>A, XM_017006741.1:c.4530C>T, XM_017006741.1:c.4530C>A, NM_018165.3:c.4206C>T, NM_018165.3:c.4206C>A, XM_017006727.2:c.4602C>T, XM_017006727.2:c.4602C>A, XM_017006727.1:c.4602C>T, XM_017006727.1:c.4602C>A, XM_017006726.2:c.4602C>T, XM_017006726.2:c.4602C>A, XM_017006726.1:c.4602C>T, XM_017006726.1:c.4602C>A, XM_017006730.2:c.4593C>T, XM_017006730.2:c.4593C>A, XM_017006730.1:c.4593C>T, XM_017006730.1:c.4593C>A, XM_017006725.2:c.4602C>T, XM_017006725.2:c.4602C>A, XM_017006725.1:c.4602C>T, XM_017006725.1:c.4602C>A, XM_017006728.2:c.4602C>T, XM_017006728.2:c.4602C>A, XM_017006728.1:c.4602C>T, XM_017006728.1:c.4602C>A, XM_017006731.2:c.4593C>T, XM_017006731.2:c.4593C>A, XM_017006731.1:c.4593C>T, XM_017006731.1:c.4593C>A, XM_024453619.2:c.4566C>T, XM_024453619.2:c.4566C>A, XM_024453619.1:c.4566C>T, XM_024453619.1:c.4566C>A, XM_017006742.2:c.4530C>T, XM_017006742.2:c.4530C>A, XM_017006742.1:c.4530C>T, XM_017006742.1:c.4530C>A, XM_017006744.2:c.4521C>T, XM_017006744.2:c.4521C>A, XM_017006744.1:c.4521C>T, XM_017006744.1:c.4521C>A, NM_018165.2:c.4206C>T, NM_018165.2:c.4206C>A, XM_047448442.1:c.4602C>T, XM_047448442.1:c.4602C>A, XM_047448443.1:c.4599C>T, XM_047448443.1:c.4599C>A, XM_047448444.1:c.4590C>T, XM_047448444.1:c.4590C>A, XM_047448446.1:c.4575C>T, XM_047448446.1:c.4575C>A, XM_047448448.1:c.4572C>T, XM_047448448.1:c.4572C>A, XM_047448450.1:c.4527C>T, XM_047448450.1:c.4527C>A, XM_047448451.1:c.4524C>T, XM_047448451.1:c.4524C>A, XM_047448456.1:c.4500C>T, XM_047448456.1:c.4500C>A, XM_047448447.1:c.4575C>T, XM_047448447.1:c.4575C>A, XM_047448445.1:c.4590C>T, XM_047448445.1:c.4590C>A, XM_047448455.1:c.4518C>T, XM_047448455.1:c.4518C>A, XM_047448454.1:c.4518C>T, XM_047448454.1:c.4518C>A, XM_047448452.1:c.4521C>T, XM_047448452.1:c.4521C>A, XM_047448453.1:c.4518C>T, XM_047448453.1:c.4518C>A, XM_047448457.1:c.4497C>T, XM_047448457.1:c.4497C>A, XM_047448459.1:c.4425C>T, XM_047448459.1:c.4425C>A, XM_047448464.1:c.4365C>T, XM_047448464.1:c.4365C>A, XM_047448449.1:c.4539C>T, XM_047448449.1:c.4539C>A, XM_047448458.1:c.4464C>T, XM_047448458.1:c.4464C>A, XM_047448460.1:c.4416C>T, XM_047448460.1:c.4416C>A, XM_047448461.1:c.4392C>T, XM_047448461.1:c.4392C>A, XM_047448462.1:c.4389C>T, XM_047448462.1:c.4389C>A, XM_047448463.1:c.4371C>T, XM_047448463.1:c.4371C>A, XM_047448465.1:c.4347C>T, XM_047448465.1:c.4347C>A, NM_181041.1:c.*1516C>T, NM_181041.1:c.*1516C>A, NM_018165.1:c.318C>T, NM_018165.1:c.318C>A

                            14.

                            rs1474605653 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              3:52628998 (GRCh38)
                              3:52663014 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:52628997:G:A,NC_000003.12:52628997:G:C
                              Gene:
                              PBRM1 (Varview)
                              Functional Consequence:
                              missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000003.12:g.52628998G>A, NC_000003.12:g.52628998G>C, NC_000003.11:g.52663014G>A, NC_000003.11:g.52663014G>C, NG_032108.1:g.61853C>T, NG_032108.1:g.61853C>G, NM_181042.5:c.1339C>T, NM_181042.5:c.1339C>G, NM_181042.4:c.1339C>T, NM_181042.4:c.1339C>G, NM_181042.3:c.1339C>T, NM_181042.3:c.1339C>G, NM_181042.2:c.1339C>T, NM_181042.2:c.1339C>G, NM_181042.1:c.1339C>T, NM_181042.1:c.1339C>G, NM_018313.5:c.1339C>T, NM_018313.5:c.1339C>G, NM_018313.4:c.1339C>T, NM_018313.4:c.1339C>G, NM_001350077.2:c.1393C>T, NM_001350077.2:c.1393C>G, NM_001350077.1:c.1393C>T, NM_001350077.1:c.1393C>G, NM_001350078.2:c.1402C>T, NM_001350078.2:c.1402C>G, NM_001350078.1:c.1402C>T, NM_001350078.1:c.1402C>G, NM_001350074.2:c.1402C>T, NM_001350074.2:c.1402C>G, NM_001350074.1:c.1402C>T, NM_001350074.1:c.1402C>G, NM_001350076.2:c.1402C>T, NM_001350076.2:c.1402C>G, NM_001350076.1:c.1402C>T, NM_001350076.1:c.1402C>G, NM_001366071.2:c.1402C>T, NM_001366071.2:c.1402C>G, NM_001366071.1:c.1402C>T, NM_001366071.1:c.1402C>G, NM_001366074.2:c.1390C>T, NM_001366074.2:c.1390C>G, NM_001366074.1:c.1390C>T, NM_001366074.1:c.1390C>G, NM_001350079.2:c.1402C>T, NM_001350079.2:c.1402C>G, NM_001350079.1:c.1402C>T, NM_001350079.1:c.1402C>G, NM_001366070.2:c.1402C>T, NM_001366070.2:c.1402C>G, NM_001366070.1:c.1402C>T, NM_001366070.1:c.1402C>G, NM_001350075.2:c.1339C>T, NM_001350075.2:c.1339C>G, NM_001350075.1:c.1339C>T, NM_001350075.1:c.1339C>G, NM_001366072.2:c.1402C>T, NM_001366072.2:c.1402C>G, NM_001366072.1:c.1402C>T, NM_001366072.1:c.1402C>G, NM_001366073.2:c.1393C>T, NM_001366073.2:c.1393C>G, NM_001366073.1:c.1393C>T, NM_001366073.1:c.1393C>G, NM_001366075.2:c.1402C>T, NM_001366075.2:c.1402C>G, NM_001366075.1:c.1402C>T, NM_001366075.1:c.1402C>G, NM_001366076.2:c.1297C>T, NM_001366076.2:c.1297C>G, NM_001366076.1:c.1297C>T, NM_001366076.1:c.1297C>G, NM_001405603.1:c.1339C>T, NM_001405603.1:c.1339C>G, NM_001405600.1:c.1393C>T, NM_001405600.1:c.1393C>G, NM_001405552.1:c.1441C>T, NM_001405552.1:c.1441C>G, NM_001394867.1:c.1339C>T, NM_001394867.1:c.1339C>G, NM_001394869.1:c.1339C>T, NM_001394869.1:c.1339C>G, NM_001405594.1:c.1339C>T, NM_001405594.1:c.1339C>G, NM_001405567.1:c.1339C>T, NM_001405567.1:c.1339C>G, NM_001405622.1:c.1402C>T, NM_001405622.1:c.1402C>G, NM_001405588.1:c.1339C>T, NM_001405588.1:c.1339C>G, NM_001405607.1:c.1339C>T, NM_001405607.1:c.1339C>G, NM_001405583.1:c.1339C>T, NM_001405583.1:c.1339C>G, NM_001405637.1:c.1357C>T, NM_001405637.1:c.1357C>G, NM_001405601.1:c.1339C>T, NM_001405601.1:c.1339C>G, NM_001405557.1:c.1339C>T, NM_001405557.1:c.1339C>G, NM_001405561.1:c.1339C>T, NM_001405561.1:c.1339C>G, NM_001405598.1:c.1366C>T, NM_001405598.1:c.1366C>G, NR_175959.1:n.1516C>T, NR_175959.1:n.1516C>G, NM_001405570.1:c.1339C>T, NM_001405570.1:c.1339C>G, NM_001400470.1:c.1339C>T, NM_001400470.1:c.1339C>G, NM_001400472.1:c.1360C>T, NM_001400472.1:c.1360C>G, NM_001405589.1:c.1339C>T, NM_001405589.1:c.1339C>G, NM_001394868.1:c.1339C>T, NM_001394868.1:c.1339C>G, NM_001405629.1:c.1339C>T, NM_001405629.1:c.1339C>G, NM_001405641.1:c.1339C>T, NM_001405641.1:c.1339C>G, NM_001405579.1:c.1339C>T, NM_001405579.1:c.1339C>G, NM_001400479.1:c.1339C>T, NM_001400479.1:c.1339C>G, NM_001405630.1:c.1339C>T, NM_001405630.1:c.1339C>G, NM_001405590.1:c.1339C>T, NM_001405590.1:c.1339C>G, NM_001400475.1:c.1339C>T, NM_001400475.1:c.1339C>G, NM_001400474.1:c.1339C>T, NM_001400474.1:c.1339C>G, NM_001405575.1:c.1339C>T, NM_001405575.1:c.1339C>G, NM_001405632.1:c.1339C>T, NM_001405632.1:c.1339C>G, NR_174502.1:n.1519C>T, NR_174502.1:n.1519C>G, NM_001405553.1:c.1402C>T, NM_001405553.1:c.1402C>G, NM_001394870.1:c.1393C>T, NM_001394870.1:c.1393C>G, NM_001405574.1:c.1393C>T, NM_001405574.1:c.1393C>G, NM_001405623.1:c.1339C>T, NM_001405623.1:c.1339C>G, NM_001405554.1:c.1447C>T, NM_001405554.1:c.1447C>G, NM_001405559.1:c.1339C>T, NM_001405559.1:c.1339C>G, NM_001405639.1:c.1339C>T, NM_001405639.1:c.1339C>G, NM_001405596.1:c.-644C>T, NM_001405596.1:c.-644C>G, NM_001405604.1:c.1243C>T, NM_001405604.1:c.1243C>G, NM_001405558.1:c.1339C>T, NM_001405558.1:c.1339C>G, NM_001405635.1:c.1339C>T, NM_001405635.1:c.1339C>G, NM_001400471.1:c.1339C>T, NM_001400471.1:c.1339C>G, NM_001405606.1:c.1243C>T, NM_001405606.1:c.1243C>G, NM_001405638.1:c.1243C>T, NM_001405638.1:c.1243C>G, NM_001405577.1:c.1339C>T, NM_001405577.1:c.1339C>G, NM_001405571.1:c.1339C>T, NM_001405571.1:c.1339C>G, NM_001405626.1:c.1339C>T, NM_001405626.1:c.1339C>G, NM_001400487.1:c.1243C>T, NM_001400487.1:c.1243C>G, NM_001405593.1:c.1339C>T, NM_001405593.1:c.1339C>G, NM_001405591.1:c.1393C>T, NM_001405591.1:c.1393C>G, NM_001405640.1:c.1339C>T, NM_001405640.1:c.1339C>G, NM_001405568.1:c.1366C>T, NM_001405568.1:c.1366C>G, NM_001405581.1:c.1339C>T, NM_001405581.1:c.1339C>G, NM_001405569.1:c.1366C>T, NM_001405569.1:c.1366C>G, NM_001405625.1:c.-244C>T, NM_001405625.1:c.-244C>G, NM_001405564.1:c.1366C>T, NM_001405564.1:c.1366C>G, NM_001394871.1:c.1339C>T, NM_001394871.1:c.1339C>G, NM_001405643.1:c.1339C>T, NM_001405643.1:c.1339C>G, NM_001405584.1:c.1339C>T, NM_001405584.1:c.1339C>G, NM_001400473.1:c.1339C>T, NM_001400473.1:c.1339C>G, NM_001405628.1:c.1339C>T, NM_001405628.1:c.1339C>G, NM_001394873.1:c.1339C>T, NM_001394873.1:c.1339C>G, NM_001394872.1:c.1339C>T, NM_001394872.1:c.1339C>G, NM_001405631.1:c.1339C>T, NM_001405631.1:c.1339C>G, NM_001400481.1:c.1339C>T, NM_001400481.1:c.1339C>G, NM_001405578.1:c.1339C>T, NM_001405578.1:c.1339C>G, NM_001394874.1:c.1339C>T, NM_001394874.1:c.1339C>G, NM_001400501.1:c.1339C>T, NM_001400501.1:c.1339C>G, NM_001400500.1:c.1339C>T, NM_001400500.1:c.1339C>G, NM_001394876.1:c.1339C>T, NM_001394876.1:c.1339C>G, NM_001405586.1:c.1366C>T, NM_001405586.1:c.1366C>G, NM_001405595.1:c.1270C>T, NM_001405595.1:c.1270C>G, NM_001400484.1:c.1339C>T, NM_001400484.1:c.1339C>G, NM_001405633.1:c.1339C>T, NM_001405633.1:c.1339C>G, NM_001405565.1:c.1339C>T, NM_001405565.1:c.1339C>G, NM_001405566.1:c.-644C>T, NM_001405566.1:c.-644C>G, NM_001400490.1:c.1339C>T, NM_001400490.1:c.1339C>G, NM_001405634.1:c.1339C>T, NM_001405634.1:c.1339C>G, NM_001405592.1:c.1339C>T, NM_001405592.1:c.1339C>G, NM_001405599.1:c.1243C>T, NM_001405599.1:c.1243C>G, NM_001405582.1:c.1243C>T, NM_001405582.1:c.1243C>G, NM_001405597.1:c.1222C>T, NM_001405597.1:c.1222C>G, NM_001405636.1:c.1366C>T, NM_001405636.1:c.1366C>G, NM_001405556.1:c.1339C>T, NM_001405556.1:c.1339C>G, NM_001405587.1:c.1195C>T, NM_001405587.1:c.1195C>G, NM_001405585.1:c.1339C>T, NM_001405585.1:c.1339C>G, NM_001400496.1:c.1339C>T, NM_001400496.1:c.1339C>G, NM_001405627.1:c.1339C>T, NM_001405627.1:c.1339C>G, NM_001394877.1:c.1339C>T, NM_001394877.1:c.1339C>G, NM_001394875.1:c.1339C>T, NM_001394875.1:c.1339C>G, NM_001405624.1:c.1339C>T, NM_001405624.1:c.1339C>G, NM_001405563.1:c.1339C>T, NM_001405563.1:c.1339C>G, NM_001405572.1:c.1243C>T, NM_001405572.1:c.1243C>G, NM_001405573.1:c.1153C>T, NM_001405573.1:c.1153C>G, NM_001405580.1:c.1366C>T, NM_001405580.1:c.1366C>G, NM_001400504.1:c.1339C>T, NM_001400504.1:c.1339C>G, NM_001405605.1:c.1339C>T, NM_001405605.1:c.1339C>G, NM_001405576.1:c.1339C>T, NM_001405576.1:c.1339C>G, NM_001405602.1:c.1243C>T, NM_001405602.1:c.1243C>G, NM_001405560.1:c.1240C>T, NM_001405560.1:c.1240C>G, NM_001405642.1:c.1240C>T, NM_001405642.1:c.1240C>G, NM_001405555.1:c.1339C>T, NM_001405555.1:c.1339C>G, NM_001405609.1:c.1339C>T, NM_001405609.1:c.1339C>G, NM_001394879.1:c.1243C>T, NM_001394879.1:c.1243C>G, NM_001394878.1:c.1303C>T, NM_001394878.1:c.1303C>G, NM_001405612.1:c.1339C>T, NM_001405612.1:c.1339C>G, NM_001405610.1:c.1339C>T, NM_001405610.1:c.1339C>G, NM_001405608.1:c.202C>T, NM_001405608.1:c.202C>G, NM_001405611.1:c.1339C>T, NM_001405611.1:c.1339C>G, XM_011533900.4:c.1402C>T, XM_011533900.4:c.1402C>G, XM_011533900.3:c.1402C>T, XM_011533900.3:c.1402C>G, XM_011533900.2:c.1402C>T, XM_011533900.2:c.1402C>G, XM_011533900.1:c.1402C>T, XM_011533900.1:c.1402C>G, XM_011533902.4:c.1402C>T, XM_011533902.4:c.1402C>G, XM_011533902.3:c.1402C>T, XM_011533902.3:c.1402C>G, XM_011533902.2:c.1402C>T, XM_011533902.2:c.1402C>G, XM_011533902.1:c.1402C>T, XM_011533902.1:c.1402C>G, XM_011533903.4:c.1402C>T, XM_011533903.4:c.1402C>G, XM_011533903.3:c.1402C>T, XM_011533903.3:c.1402C>G, XM_011533903.2:c.1402C>T, XM_011533903.2:c.1402C>G, XM_011533903.1:c.1402C>T, XM_011533903.1:c.1402C>G, XM_005265280.4:c.1339C>T, XM_005265280.4:c.1339C>G, NM_018165.4:c.1243C>T, NM_018165.4:c.1243C>G, XM_017006734.3:c.1390C>T, XM_017006734.3:c.1390C>G, XM_017006734.2:c.1390C>T, XM_017006734.2:c.1390C>G, XM_017006734.1:c.1390C>T, XM_017006734.1:c.1390C>G, XM_017006741.3:c.1402C>T, XM_017006741.3:c.1402C>G, XM_017006741.2:c.1402C>T, XM_017006741.2:c.1402C>G, XM_017006741.1:c.1402C>T, XM_017006741.1:c.1402C>G, NM_018165.3:c.1243C>T, NM_018165.3:c.1243C>G, XM_017006727.2:c.1429C>T, XM_017006727.2:c.1429C>G, XM_017006727.1:c.1429C>T, XM_017006727.1:c.1429C>G, XM_017006726.2:c.1429C>T, XM_017006726.2:c.1429C>G, XM_017006726.1:c.1429C>T, XM_017006726.1:c.1429C>G, XM_017006730.2:c.1420C>T, XM_017006730.2:c.1420C>G, XM_017006730.1:c.1420C>T, XM_017006730.1:c.1420C>G, XM_017006725.2:c.1429C>T, XM_017006725.2:c.1429C>G, XM_017006725.1:c.1429C>T, XM_017006725.1:c.1429C>G, XM_017006728.2:c.1429C>T, XM_017006728.2:c.1429C>G, XM_017006728.1:c.1429C>T, XM_017006728.1:c.1429C>G, XM_017006731.2:c.1420C>T, XM_017006731.2:c.1420C>G, XM_017006731.1:c.1420C>T, XM_017006731.1:c.1420C>G, XM_024453619.2:c.1393C>T, XM_024453619.2:c.1393C>G, XM_024453619.1:c.1393C>T, XM_024453619.1:c.1393C>G, XM_017006742.2:c.1402C>T, XM_017006742.2:c.1402C>G, XM_017006742.1:c.1402C>T, XM_017006742.1:c.1402C>G, XM_017006744.2:c.1393C>T, XM_017006744.2:c.1393C>G, XM_017006744.1:c.1393C>T, XM_017006744.1:c.1393C>G, NM_018165.2:c.1243C>T, NM_018165.2:c.1243C>G, XM_047448442.1:c.1429C>T, XM_047448442.1:c.1429C>G, XM_047448443.1:c.1429C>T, XM_047448443.1:c.1429C>G, XM_047448444.1:c.1417C>T, XM_047448444.1:c.1417C>G, XM_047448446.1:c.1402C>T, XM_047448446.1:c.1402C>G, XM_047448448.1:c.1402C>T, XM_047448448.1:c.1402C>G, XM_047448450.1:c.1429C>T, XM_047448450.1:c.1429C>G, XM_047448451.1:c.1429C>T, XM_047448451.1:c.1429C>G, XM_047448456.1:c.1402C>T, XM_047448456.1:c.1402C>G, XM_047448447.1:c.1402C>T, XM_047448447.1:c.1402C>G, XM_047448445.1:c.1417C>T, XM_047448445.1:c.1417C>G, XM_047448455.1:c.1390C>T, XM_047448455.1:c.1390C>G, XM_047448454.1:c.1390C>T, XM_047448454.1:c.1390C>G, XM_047448452.1:c.1393C>T, XM_047448452.1:c.1393C>G, XM_047448453.1:c.1393C>T, XM_047448453.1:c.1393C>G, XM_047448457.1:c.1399C>T, XM_047448457.1:c.1399C>G, XM_047448459.1:c.1297C>T, XM_047448459.1:c.1297C>G, XM_047448464.1:c.1402C>T, XM_047448464.1:c.1402C>G, XM_047448449.1:c.1366C>T, XM_047448449.1:c.1366C>G, XM_047448458.1:c.1339C>T, XM_047448458.1:c.1339C>G, XM_047448460.1:c.1243C>T, XM_047448460.1:c.1243C>G, XM_047448461.1:c.1339C>T, XM_047448461.1:c.1339C>G, XM_047448462.1:c.1339C>T, XM_047448462.1:c.1339C>G, XM_047448463.1:c.1243C>T, XM_047448463.1:c.1243C>G, XM_047448465.1:c.1339C>T, XM_047448465.1:c.1339C>G, NM_181041.1:c.1339C>T, NM_181041.1:c.1339C>G, NP_851385.1:p.His447Tyr, NP_851385.1:p.His447Asp, NP_060783.3:p.His447Tyr, NP_060783.3:p.His447Asp, NP_001337006.1:p.His465Tyr, NP_001337006.1:p.His465Asp, NP_001337007.1:p.His468Tyr, NP_001337007.1:p.His468Asp, NP_001337003.1:p.His468Tyr, NP_001337003.1:p.His468Asp, NP_001337005.1:p.His468Tyr, NP_001337005.1:p.His468Asp, NP_001353000.1:p.His468Tyr, NP_001353000.1:p.His468Asp, NP_001353003.1:p.His464Tyr, NP_001353003.1:p.His464Asp, NP_001337008.1:p.His468Tyr, NP_001337008.1:p.His468Asp, NP_001352999.1:p.His468Tyr, NP_001352999.1:p.His468Asp, NP_001337004.1:p.His447Tyr, NP_001337004.1:p.His447Asp, NP_001353001.1:p.His468Tyr, NP_001353001.1:p.His468Asp, NP_001353002.1:p.His465Tyr, NP_001353002.1:p.His465Asp, NP_001353004.1:p.His468Tyr, NP_001353004.1:p.His468Asp, NP_001353005.1:p.His433Tyr, NP_001353005.1:p.His433Asp, NP_001381796.1:p.His447Tyr, NP_001381796.1:p.His447Asp, NP_001381798.1:p.His447Tyr, NP_001381798.1:p.His447Asp, NP_001387399.1:p.His447Tyr, NP_001387399.1:p.His447Asp, NP_001387401.1:p.His454Tyr, NP_001387401.1:p.His454Asp, NP_001381797.1:p.His447Tyr, NP_001381797.1:p.His447Asp, NP_001387408.1:p.His447Tyr, NP_001387408.1:p.His447Asp, NP_001387404.1:p.His447Tyr, NP_001387404.1:p.His447Asp, NP_001387403.1:p.His447Tyr, NP_001387403.1:p.His447Asp, NP_001381799.1:p.His465Tyr, NP_001381799.1:p.His465Asp, NP_001387400.1:p.His447Tyr, NP_001387400.1:p.His447Asp, NP_001387416.1:p.His415Tyr, NP_001387416.1:p.His415Asp, NP_001381800.1:p.His447Tyr, NP_001381800.1:p.His447Asp, NP_001387402.1:p.His447Tyr, NP_001387402.1:p.His447Asp, NP_001381802.1:p.His447Tyr, NP_001381802.1:p.His447Asp, NP_001381801.1:p.His447Tyr, NP_001381801.1:p.His447Asp, NP_001387410.1:p.His447Tyr, NP_001387410.1:p.His447Asp, NP_001381803.1:p.His447Tyr, NP_001381803.1:p.His447Asp, NP_001387430.1:p.His447Tyr, NP_001387430.1:p.His447Asp, NP_001387429.1:p.His447Tyr, NP_001387429.1:p.His447Asp, NP_001381805.1:p.His447Tyr, NP_001381805.1:p.His447Asp, NP_001387413.1:p.His447Tyr, NP_001387413.1:p.His447Asp, NP_001387419.1:p.His447Tyr, NP_001387419.1:p.His447Asp, NP_001387425.1:p.His447Tyr, NP_001387425.1:p.His447Asp, NP_001381806.1:p.His447Tyr, NP_001381806.1:p.His447Asp, NP_001381804.1:p.His447Tyr, NP_001381804.1:p.His447Asp, NP_001387433.1:p.His447Tyr, NP_001387433.1:p.His447Asp, NP_001381808.1:p.His415Tyr, NP_001381808.1:p.His415Asp, NP_001381807.1:p.His435Tyr, NP_001381807.1:p.His435Asp, XP_011532202.1:p.His468Tyr, XP_011532202.1:p.His468Asp, XP_011532204.1:p.His468Tyr, XP_011532204.1:p.His468Asp, XP_011532205.1:p.His468Tyr, XP_011532205.1:p.His468Asp, XP_005265337.1:p.His447Tyr, XP_005265337.1:p.His447Asp, XP_016862223.1:p.His464Tyr, XP_016862223.1:p.His464Asp, XP_016862230.1:p.His468Tyr, XP_016862230.1:p.His468Asp, XP_016862216.1:p.His477Tyr, XP_016862216.1:p.His477Asp, XP_016862215.1:p.His477Tyr, XP_016862215.1:p.His477Asp, XP_016862219.1:p.His474Tyr, XP_016862219.1:p.His474Asp, XP_016862214.1:p.His477Tyr, XP_016862214.1:p.His477Asp, XP_016862217.1:p.His477Tyr, XP_016862217.1:p.His477Asp, XP_016862220.1:p.His474Tyr, XP_016862220.1:p.His474Asp, XP_024309387.1:p.His465Tyr, XP_024309387.1:p.His465Asp, XP_016862231.1:p.His468Tyr, XP_016862231.1:p.His468Asp, XP_016862233.1:p.His465Tyr, XP_016862233.1:p.His465Asp, XP_047304398.1:p.His477Tyr, XP_047304398.1:p.His477Asp, XP_047304399.1:p.His477Tyr, XP_047304399.1:p.His477Asp, XP_047304400.1:p.His473Tyr, XP_047304400.1:p.His473Asp, XP_047304402.1:p.His468Tyr, XP_047304402.1:p.His468Asp, XP_047304404.1:p.His468Tyr, XP_047304404.1:p.His468Asp, XP_047304406.1:p.His477Tyr, XP_047304406.1:p.His477Asp, XP_047304407.1:p.His477Tyr, XP_047304407.1:p.His477Asp, XP_047304412.1:p.His468Tyr, XP_047304412.1:p.His468Asp, XP_047304403.1:p.His468Tyr, XP_047304403.1:p.His468Asp, XP_047304401.1:p.His473Tyr, XP_047304401.1:p.His473Asp, XP_047304411.1:p.His464Tyr, XP_047304411.1:p.His464Asp, XP_047304410.1:p.His464Tyr, XP_047304410.1:p.His464Asp, XP_047304408.1:p.His465Tyr, XP_047304408.1:p.His465Asp, XP_047304409.1:p.His465Tyr, XP_047304409.1:p.His465Asp, XP_047304413.1:p.His467Tyr, XP_047304413.1:p.His467Asp, XP_047304415.1:p.His433Tyr, XP_047304415.1:p.His433Asp, XP_047304420.1:p.His468Tyr, XP_047304420.1:p.His468Asp, XP_047304405.1:p.His456Tyr, XP_047304405.1:p.His456Asp, XP_047304414.1:p.His447Tyr, XP_047304414.1:p.His447Asp, XP_047304416.1:p.His415Tyr, XP_047304416.1:p.His415Asp, XP_047304417.1:p.His447Tyr, XP_047304417.1:p.His447Asp, XP_047304418.1:p.His447Tyr, XP_047304418.1:p.His447Asp, XP_047304419.1:p.His415Tyr, XP_047304419.1:p.His415Asp, XP_047304421.1:p.His447Tyr, XP_047304421.1:p.His447Asp

                              15.

                              rs1474380024 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                3:52554869 (GRCh38)
                                3:52588885 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:52554868:A:C
                                Gene:
                                PBRM1 (Varview), LOC124909379 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000014/2 (GnomAD)
                                C=0.000023/6 (TOPMED)
                                HGVS:
                                NC_000003.12:g.52554869A>C, NC_000003.11:g.52588885A>C, NG_032108.1:g.135982T>G, NM_018313.5:c.4143T>G, NM_018313.4:c.4143T>G, NM_001350075.2:c.4299T>G, NM_001350075.1:c.4299T>G, NM_001405603.1:c.4464T>G, NM_001405600.1:c.4353T>G, NM_001394867.1:c.4464T>G, NM_001394869.1:c.4464T>G, NM_001405594.1:c.4464T>G, NM_001405567.1:c.4461T>G, NM_001405622.1:c.4362T>G, NM_001405588.1:c.4389T>G, NM_001405607.1:c.4509T>G, NM_001405637.1:c.4317T>G, NM_001405601.1:c.4509T>G, NM_001405557.1:c.4299T>G, NM_001405561.1:c.4296T>G, NM_001405598.1:c.4491T>G, NR_175959.1:n.4521T>G, NM_001405570.1:c.4470T>G, NM_001400470.1:c.4464T>G, NM_001400472.1:c.4320T>G, NM_001405589.1:c.4461T>G, NM_001394868.1:c.4464T>G, NM_001405629.1:c.4461T>G, NM_001400479.1:c.4299T>G, NM_001405630.1:c.4299T>G, NM_001405590.1:c.4296T>G, NM_001400475.1:c.4299T>G, NM_001400474.1:c.4299T>G, NM_001405575.1:c.4296T>G, NM_001405632.1:c.4296T>G, NR_174502.1:n.4479T>G, NM_001405553.1:c.4362T>G, NM_001394870.1:c.4353T>G, NM_001405574.1:c.4350T>G, NM_001405623.1:c.4299T>G, NM_001405554.1:c.4404T>G, NM_001405559.1:c.4389T>G, NM_001405639.1:c.4389T>G, NM_001405596.1:c.2391T>G, NM_001405604.1:c.4368T>G, NM_001405558.1:c.4224T>G, NM_001405635.1:c.4224T>G, NM_001400471.1:c.4353T>G, NM_001405606.1:c.4203T>G, NM_001405638.1:c.4203T>G, NM_001405571.1:c.4344T>G, NM_001400487.1:c.4203T>G, NM_001405591.1:c.4278T>G, NM_001405568.1:c.4326T>G, NM_001405581.1:c.4464T>G, NM_001405569.1:c.4323T>G, NM_001405625.1:c.2823T>G, NM_001405628.1:c.4299T>G, NM_001394873.1:c.4296T>G, NM_001394872.1:c.4299T>G, NM_001405631.1:c.4299T>G, NM_001400481.1:c.4296T>G, NM_001405578.1:c.4296T>G, NM_001394874.1:c.4296T>G, NM_001405586.1:c.4248T>G, NM_001405595.1:c.4230T>G, NM_001400484.1:c.4224T>G, NM_001405633.1:c.4224T>G, NM_001405565.1:c.4224T>G, NM_001405599.1:c.4203T>G, NM_001405582.1:c.4203T>G, NM_001405597.1:c.4182T>G, NM_001405556.1:c.4299T>G, NM_001405587.1:c.4155T>G, NM_001405585.1:c.4296T>G, NM_001405572.1:c.4125T>G, NM_001405573.1:c.4110T>G, NM_001405609.1:c.4299T>G, NM_001405608.1:c.3087T>G, XM_011533900.4:c.4572T>G, XM_011533900.3:c.4572T>G, XM_011533900.2:c.4572T>G, XM_011533900.1:c.4572T>G, XM_011533902.4:c.4572T>G, XM_011533902.3:c.4572T>G, XM_011533902.2:c.4572T>G, XM_011533902.1:c.4572T>G, XM_011533903.4:c.4572T>G, XM_011533903.3:c.4572T>G, XM_011533903.2:c.4572T>G, XM_011533903.1:c.4572T>G, XM_005265280.4:c.4509T>G, NM_018165.4:c.4203T>G, XM_017006734.3:c.4560T>G, XM_017006734.2:c.4560T>G, XM_017006734.1:c.4560T>G, XM_017006741.3:c.4527T>G, XM_017006741.2:c.4527T>G, XM_017006741.1:c.4527T>G, NM_018165.3:c.4203T>G, XM_017006727.2:c.4599T>G, XM_017006727.1:c.4599T>G, XM_017006726.2:c.4599T>G, XM_017006726.1:c.4599T>G, XM_017006730.2:c.4590T>G, XM_017006730.1:c.4590T>G, XM_017006725.2:c.4599T>G, XM_017006725.1:c.4599T>G, XM_017006728.2:c.4599T>G, XM_017006728.1:c.4599T>G, XM_017006731.2:c.4590T>G, XM_017006731.1:c.4590T>G, XM_024453619.2:c.4563T>G, XM_024453619.1:c.4563T>G, XM_017006742.2:c.4527T>G, XM_017006742.1:c.4527T>G, XM_017006744.2:c.4518T>G, XM_017006744.1:c.4518T>G, NM_018165.2:c.4203T>G, XM_047448442.1:c.4599T>G, XM_047448443.1:c.4596T>G, XM_047448444.1:c.4587T>G, XM_047448446.1:c.4572T>G, XM_047448448.1:c.4569T>G, XM_047448450.1:c.4524T>G, XM_047448451.1:c.4521T>G, XM_047448456.1:c.4497T>G, XM_047448447.1:c.4572T>G, XM_047448445.1:c.4587T>G, XM_047448455.1:c.4515T>G, XM_047448454.1:c.4515T>G, XM_047448452.1:c.4518T>G, XM_047448453.1:c.4515T>G, XM_047448457.1:c.4494T>G, XM_047448459.1:c.4422T>G, XM_047448464.1:c.4362T>G, XM_047448449.1:c.4536T>G, XM_047448458.1:c.4461T>G, XM_047448460.1:c.4413T>G, XM_047448461.1:c.4389T>G, XM_047448462.1:c.4386T>G, XM_047448463.1:c.4368T>G, XM_047448465.1:c.4344T>G, NM_181041.1:c.*1513T>G, NM_018165.1:c.315T>G

                                16.

                                rs1473745423 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,G [Show Flanks]
                                  Chromosome:
                                  3:52644789 (GRCh38)
                                  3:52678805 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:52644788:C:A,NC_000003.12:52644788:C:G
                                  Gene:
                                  PBRM1 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.000111/1 (ALFA)
                                  G=0.000008/2 (GnomAD_exomes)
                                  HGVS:
                                  NC_000003.12:g.52644789C>A, NC_000003.12:g.52644789C>G, NC_000003.11:g.52678805C>A, NC_000003.11:g.52678805C>G, NG_032108.1:g.46062G>T, NG_032108.1:g.46062G>C, NM_181042.5:c.814G>T, NM_181042.5:c.814G>C, NM_181042.4:c.814G>T, NM_181042.4:c.814G>C, NM_181042.3:c.814G>T, NM_181042.3:c.814G>C, NM_181042.2:c.814G>T, NM_181042.2:c.814G>C, NM_181042.1:c.814G>T, NM_181042.1:c.814G>C, NM_018313.5:c.814G>T, NM_018313.5:c.814G>C, NM_018313.4:c.814G>T, NM_018313.4:c.814G>C, NM_001350077.2:c.868G>T, NM_001350077.2:c.868G>C, NM_001350077.1:c.868G>T, NM_001350077.1:c.868G>C, NM_001350078.2:c.877G>T, NM_001350078.2:c.877G>C, NM_001350078.1:c.877G>T, NM_001350078.1:c.877G>C, NM_001350074.2:c.877G>T, NM_001350074.2:c.877G>C, NM_001350074.1:c.877G>T, NM_001350074.1:c.877G>C, NM_001350076.2:c.877G>T, NM_001350076.2:c.877G>C, NM_001350076.1:c.877G>T, NM_001350076.1:c.877G>C, NM_001366071.2:c.877G>T, NM_001366071.2:c.877G>C, NM_001366071.1:c.877G>T, NM_001366071.1:c.877G>C, NM_001366074.2:c.865G>T, NM_001366074.2:c.865G>C, NM_001366074.1:c.865G>T, NM_001366074.1:c.865G>C, NM_001350079.2:c.877G>T, NM_001350079.2:c.877G>C, NM_001350079.1:c.877G>T, NM_001350079.1:c.877G>C, NM_001366070.2:c.877G>T, NM_001366070.2:c.877G>C, NM_001366070.1:c.877G>T, NM_001366070.1:c.877G>C, NM_001350075.2:c.814G>T, NM_001350075.2:c.814G>C, NM_001350075.1:c.814G>T, NM_001350075.1:c.814G>C, NM_001366072.2:c.877G>T, NM_001366072.2:c.877G>C, NM_001366072.1:c.877G>T, NM_001366072.1:c.877G>C, NM_001366073.2:c.868G>T, NM_001366073.2:c.868G>C, NM_001366073.1:c.868G>T, NM_001366073.1:c.868G>C, NM_001366075.2:c.877G>T, NM_001366075.2:c.877G>C, NM_001366075.1:c.877G>T, NM_001366075.1:c.877G>C, NM_001366076.2:c.868G>T, NM_001366076.2:c.868G>C, NM_001366076.1:c.868G>T, NM_001366076.1:c.868G>C, NM_001405603.1:c.814G>T, NM_001405603.1:c.814G>C, NM_001405600.1:c.868G>T, NM_001405600.1:c.868G>C, NM_001405552.1:c.916G>T, NM_001405552.1:c.916G>C, NM_001394867.1:c.814G>T, NM_001394867.1:c.814G>C, NM_001394869.1:c.814G>T, NM_001394869.1:c.814G>C, NM_001405594.1:c.814G>T, NM_001405594.1:c.814G>C, NM_001405567.1:c.814G>T, NM_001405567.1:c.814G>C, NM_001405622.1:c.877G>T, NM_001405622.1:c.877G>C, NM_001405588.1:c.814G>T, NM_001405588.1:c.814G>C, NM_001405607.1:c.814G>T, NM_001405607.1:c.814G>C, NM_001405583.1:c.814G>T, NM_001405583.1:c.814G>C, NM_001405637.1:c.832G>T, NM_001405637.1:c.832G>C, NM_001405601.1:c.814G>T, NM_001405601.1:c.814G>C, NM_001405557.1:c.814G>T, NM_001405557.1:c.814G>C, NM_001405561.1:c.814G>T, NM_001405561.1:c.814G>C, NM_001405598.1:c.841G>T, NM_001405598.1:c.841G>C, NR_175959.1:n.991G>T, NR_175959.1:n.991G>C, NM_001405570.1:c.814G>T, NM_001405570.1:c.814G>C, NM_001400470.1:c.814G>T, NM_001400470.1:c.814G>C, NM_001400472.1:c.814G>T, NM_001400472.1:c.814G>C, NM_001405589.1:c.814G>T, NM_001405589.1:c.814G>C, NM_001394868.1:c.814G>T, NM_001394868.1:c.814G>C, NM_001405629.1:c.814G>T, NM_001405629.1:c.814G>C, NM_001405641.1:c.814G>T, NM_001405641.1:c.814G>C, NM_001405579.1:c.814G>T, NM_001405579.1:c.814G>C, NM_001400479.1:c.814G>T, NM_001400479.1:c.814G>C, NM_001405630.1:c.814G>T, NM_001405630.1:c.814G>C, NM_001405590.1:c.814G>T, NM_001405590.1:c.814G>C, NM_001400475.1:c.814G>T, NM_001400475.1:c.814G>C, NM_001400474.1:c.814G>T, NM_001400474.1:c.814G>C, NM_001405575.1:c.814G>T, NM_001405575.1:c.814G>C, NM_001405632.1:c.814G>T, NM_001405632.1:c.814G>C, NR_174502.1:n.994G>T, NR_174502.1:n.994G>C, NM_001405553.1:c.877G>T, NM_001405553.1:c.877G>C, NM_001394870.1:c.868G>T, NM_001394870.1:c.868G>C, NM_001405574.1:c.868G>T, NM_001405574.1:c.868G>C, NM_001405623.1:c.814G>T, NM_001405623.1:c.814G>C, NM_001405554.1:c.922G>T, NM_001405554.1:c.922G>C, NM_001405559.1:c.814G>T, NM_001405559.1:c.814G>C, NM_001405639.1:c.814G>T, NM_001405639.1:c.814G>C, NM_001405596.1:c.-1169G>T, NM_001405596.1:c.-1169G>C, NM_001405604.1:c.814G>T, NM_001405604.1:c.814G>C, NM_001405558.1:c.814G>T, NM_001405558.1:c.814G>C, NM_001405635.1:c.814G>T, NM_001405635.1:c.814G>C, NM_001400471.1:c.814G>T, NM_001400471.1:c.814G>C, NM_001405606.1:c.814G>T, NM_001405606.1:c.814G>C, NM_001405638.1:c.814G>T, NM_001405638.1:c.814G>C, NM_001405577.1:c.814G>T, NM_001405577.1:c.814G>C, NM_001405571.1:c.814G>T, NM_001405571.1:c.814G>C, NM_001405626.1:c.814G>T, NM_001405626.1:c.814G>C, NM_001400487.1:c.814G>T, NM_001400487.1:c.814G>C, NM_001405593.1:c.814G>T, NM_001405593.1:c.814G>C, NM_001405591.1:c.868G>T, NM_001405591.1:c.868G>C, NM_001405640.1:c.814G>T, NM_001405640.1:c.814G>C, NM_001405568.1:c.841G>T, NM_001405568.1:c.841G>C, NM_001405581.1:c.814G>T, NM_001405581.1:c.814G>C, NM_001405569.1:c.841G>T, NM_001405569.1:c.841G>C, NM_001405625.1:c.-677G>T, NM_001405625.1:c.-677G>C, NM_001405564.1:c.841G>T, NM_001405564.1:c.841G>C, NM_001394871.1:c.814G>T, NM_001394871.1:c.814G>C, NM_001405643.1:c.814G>T, NM_001405643.1:c.814G>C, NM_001405584.1:c.814G>T, NM_001405584.1:c.814G>C, NM_001400473.1:c.814G>T, NM_001400473.1:c.814G>C, NM_001405628.1:c.814G>T, NM_001405628.1:c.814G>C, NM_001394873.1:c.814G>T, NM_001394873.1:c.814G>C, NM_001394872.1:c.814G>T, NM_001394872.1:c.814G>C, NM_001405631.1:c.814G>T, NM_001405631.1:c.814G>C, NM_001400481.1:c.814G>T, NM_001400481.1:c.814G>C, NM_001405578.1:c.814G>T, NM_001405578.1:c.814G>C, NM_001394874.1:c.814G>T, NM_001394874.1:c.814G>C, NM_001400501.1:c.814G>T, NM_001400501.1:c.814G>C, NM_001400500.1:c.814G>T, NM_001400500.1:c.814G>C, NM_001394876.1:c.814G>T, NM_001394876.1:c.814G>C, NM_001405586.1:c.841G>T, NM_001405586.1:c.841G>C, NM_001405595.1:c.745G>T, NM_001405595.1:c.745G>C, NM_001400484.1:c.814G>T, NM_001400484.1:c.814G>C, NM_001405633.1:c.814G>T, NM_001405633.1:c.814G>C, NM_001405565.1:c.814G>T, NM_001405565.1:c.814G>C, NM_001405566.1:c.-1169G>T, NM_001405566.1:c.-1169G>C, NM_001400490.1:c.814G>T, NM_001400490.1:c.814G>C, NM_001405634.1:c.814G>T, NM_001405634.1:c.814G>C, NM_001405592.1:c.814G>T, NM_001405592.1:c.814G>C, NM_001405599.1:c.814G>T, NM_001405599.1:c.814G>C, NM_001405582.1:c.814G>T, NM_001405582.1:c.814G>C, NM_001405597.1:c.697G>T, NM_001405597.1:c.697G>C, NM_001405636.1:c.841G>T, NM_001405636.1:c.841G>C, NM_001405556.1:c.814G>T, NM_001405556.1:c.814G>C, NM_001405587.1:c.670G>T, NM_001405587.1:c.670G>C, NM_001405585.1:c.814G>T, NM_001405585.1:c.814G>C, NM_001400496.1:c.814G>T, NM_001400496.1:c.814G>C, NM_001405627.1:c.814G>T, NM_001405627.1:c.814G>C, NM_001394877.1:c.814G>T, NM_001394877.1:c.814G>C, NM_001394875.1:c.814G>T, NM_001394875.1:c.814G>C, NM_001405624.1:c.814G>T, NM_001405624.1:c.814G>C, NM_001405563.1:c.814G>T, NM_001405563.1:c.814G>C, NM_001405572.1:c.814G>T, NM_001405572.1:c.814G>C, NM_001405573.1:c.628G>T, NM_001405573.1:c.628G>C, NM_001405580.1:c.841G>T, NM_001405580.1:c.841G>C, NM_001400504.1:c.814G>T, NM_001400504.1:c.814G>C, NM_001405605.1:c.814G>T, NM_001405605.1:c.814G>C, NM_001405576.1:c.814G>T, NM_001405576.1:c.814G>C, NM_001405602.1:c.814G>T, NM_001405602.1:c.814G>C, NM_001405560.1:c.715G>T, NM_001405560.1:c.715G>C, NM_001405642.1:c.715G>T, NM_001405642.1:c.715G>C, NM_001405555.1:c.814G>T, NM_001405555.1:c.814G>C, NM_001405609.1:c.814G>T, NM_001405609.1:c.814G>C, NM_001394879.1:c.814G>T, NM_001394879.1:c.814G>C, NM_001394878.1:c.778G>T, NM_001394878.1:c.778G>C, NM_001405612.1:c.814G>T, NM_001405612.1:c.814G>C, NM_001405610.1:c.814G>T, NM_001405610.1:c.814G>C, NM_001405608.1:c.-136G>T, NM_001405608.1:c.-136G>C, NM_001405611.1:c.814G>T, NM_001405611.1:c.814G>C, NM_001394881.1:c.814G>T, NM_001394881.1:c.814G>C, NM_001405616.1:c.814G>T, NM_001405616.1:c.814G>C, NM_001394880.1:c.877G>T, NM_001394880.1:c.877G>C, NM_001405614.1:c.814G>T, NM_001405614.1:c.814G>C, NM_001405615.1:c.814G>T, NM_001405615.1:c.814G>C, NM_001405613.1:c.814G>T, NM_001405613.1:c.814G>C, XM_011533900.4:c.877G>T, XM_011533900.4:c.877G>C, XM_011533900.3:c.877G>T, XM_011533900.3:c.877G>C, XM_011533900.2:c.877G>T, XM_011533900.2:c.877G>C, XM_011533900.1:c.877G>T, XM_011533900.1:c.877G>C, XM_011533902.4:c.877G>T, XM_011533902.4:c.877G>C, XM_011533902.3:c.877G>T, XM_011533902.3:c.877G>C, XM_011533902.2:c.877G>T, XM_011533902.2:c.877G>C, XM_011533902.1:c.877G>T, XM_011533902.1:c.877G>C, XM_011533903.4:c.877G>T, XM_011533903.4:c.877G>C, XM_011533903.3:c.877G>T, XM_011533903.3:c.877G>C, XM_011533903.2:c.877G>T, XM_011533903.2:c.877G>C, XM_011533903.1:c.877G>T, XM_011533903.1:c.877G>C, XM_005265280.4:c.814G>T, XM_005265280.4:c.814G>C, NM_018165.4:c.814G>T, NM_018165.4:c.814G>C, XM_017006734.3:c.865G>T, XM_017006734.3:c.865G>C, XM_017006734.2:c.865G>T, XM_017006734.2:c.865G>C, XM_017006734.1:c.865G>T, XM_017006734.1:c.865G>C, XM_017006741.3:c.877G>T, XM_017006741.3:c.877G>C, XM_017006741.2:c.877G>T, XM_017006741.2:c.877G>C, XM_017006741.1:c.877G>T, XM_017006741.1:c.877G>C, NM_018165.3:c.814G>T, NM_018165.3:c.814G>C, XM_017006727.2:c.904G>T, XM_017006727.2:c.904G>C, XM_017006727.1:c.904G>T, XM_017006727.1:c.904G>C, XM_017006726.2:c.904G>T, XM_017006726.2:c.904G>C, XM_017006726.1:c.904G>T, XM_017006726.1:c.904G>C, XM_017006730.2:c.895G>T, XM_017006730.2:c.895G>C, XM_017006730.1:c.895G>T, XM_017006730.1:c.895G>C, XM_017006725.2:c.904G>T, XM_017006725.2:c.904G>C, XM_017006725.1:c.904G>T, XM_017006725.1:c.904G>C, XM_017006728.2:c.904G>T, XM_017006728.2:c.904G>C, XM_017006728.1:c.904G>T, XM_017006728.1:c.904G>C, XM_017006731.2:c.895G>T, XM_017006731.2:c.895G>C, XM_017006731.1:c.895G>T, XM_017006731.1:c.895G>C, XM_024453619.2:c.868G>T, XM_024453619.2:c.868G>C, XM_024453619.1:c.868G>T, XM_024453619.1:c.868G>C, XM_017006742.2:c.877G>T, XM_017006742.2:c.877G>C, XM_017006742.1:c.877G>T, XM_017006742.1:c.877G>C, XM_017006744.2:c.868G>T, XM_017006744.2:c.868G>C, XM_017006744.1:c.868G>T, XM_017006744.1:c.868G>C, NM_018165.2:c.814G>T, NM_018165.2:c.814G>C, XM_047448442.1:c.904G>T, XM_047448442.1:c.904G>C, XM_047448443.1:c.904G>T, XM_047448443.1:c.904G>C, XM_047448444.1:c.892G>T, XM_047448444.1:c.892G>C, XM_047448446.1:c.877G>T, XM_047448446.1:c.877G>C, XM_047448448.1:c.877G>T, XM_047448448.1:c.877G>C, XM_047448450.1:c.904G>T, XM_047448450.1:c.904G>C, XM_047448451.1:c.904G>T, XM_047448451.1:c.904G>C, XM_047448456.1:c.877G>T, XM_047448456.1:c.877G>C, XM_047448447.1:c.877G>T, XM_047448447.1:c.877G>C, XM_047448445.1:c.892G>T, XM_047448445.1:c.892G>C, XM_047448455.1:c.865G>T, XM_047448455.1:c.865G>C, XM_047448454.1:c.865G>T, XM_047448454.1:c.865G>C, XM_047448452.1:c.868G>T, XM_047448452.1:c.868G>C, XM_047448453.1:c.868G>T, XM_047448453.1:c.868G>C, XM_047448457.1:c.874G>T, XM_047448457.1:c.874G>C, XM_047448459.1:c.868G>T, XM_047448459.1:c.868G>C, XM_047448464.1:c.877G>T, XM_047448464.1:c.877G>C, XM_047448449.1:c.841G>T, XM_047448449.1:c.841G>C, XM_047448458.1:c.814G>T, XM_047448458.1:c.814G>C, XM_047448460.1:c.814G>T, XM_047448460.1:c.814G>C, XM_047448461.1:c.814G>T, XM_047448461.1:c.814G>C, XM_047448462.1:c.814G>T, XM_047448462.1:c.814G>C, XM_047448463.1:c.814G>T, XM_047448463.1:c.814G>C, XM_047448465.1:c.814G>T, XM_047448465.1:c.814G>C, NM_181041.1:c.814G>T, NM_181041.1:c.814G>C, NP_851385.1:p.Asp272Tyr, NP_851385.1:p.Asp272His, NP_060783.3:p.Asp272Tyr, NP_060783.3:p.Asp272His, NP_001337006.1:p.Asp290Tyr, NP_001337006.1:p.Asp290His, NP_001337007.1:p.Asp293Tyr, NP_001337007.1:p.Asp293His, NP_001337003.1:p.Asp293Tyr, NP_001337003.1:p.Asp293His, NP_001337005.1:p.Asp293Tyr, NP_001337005.1:p.Asp293His, NP_001353000.1:p.Asp293Tyr, NP_001353000.1:p.Asp293His, NP_001353003.1:p.Asp289Tyr, NP_001353003.1:p.Asp289His, NP_001337008.1:p.Asp293Tyr, NP_001337008.1:p.Asp293His, NP_001352999.1:p.Asp293Tyr, NP_001352999.1:p.Asp293His, NP_001337004.1:p.Asp272Tyr, NP_001337004.1:p.Asp272His, NP_001353001.1:p.Asp293Tyr, NP_001353001.1:p.Asp293His, NP_001353002.1:p.Asp290Tyr, NP_001353002.1:p.Asp290His, NP_001353004.1:p.Asp293Tyr, NP_001353004.1:p.Asp293His, NP_001353005.1:p.Asp290Tyr, NP_001353005.1:p.Asp290His, NP_001381796.1:p.Asp272Tyr, NP_001381796.1:p.Asp272His, NP_001381798.1:p.Asp272Tyr, NP_001381798.1:p.Asp272His, NP_001387399.1:p.Asp272Tyr, NP_001387399.1:p.Asp272His, NP_001387401.1:p.Asp272Tyr, NP_001387401.1:p.Asp272His, NP_001381797.1:p.Asp272Tyr, NP_001381797.1:p.Asp272His, NP_001387408.1:p.Asp272Tyr, NP_001387408.1:p.Asp272His, NP_001387404.1:p.Asp272Tyr, NP_001387404.1:p.Asp272His, NP_001387403.1:p.Asp272Tyr, NP_001387403.1:p.Asp272His, NP_001381799.1:p.Asp290Tyr, NP_001381799.1:p.Asp290His, NP_001387400.1:p.Asp272Tyr, NP_001387400.1:p.Asp272His, NP_001387416.1:p.Asp272Tyr, NP_001387416.1:p.Asp272His, NP_001381800.1:p.Asp272Tyr, NP_001381800.1:p.Asp272His, NP_001387402.1:p.Asp272Tyr, NP_001387402.1:p.Asp272His, NP_001381802.1:p.Asp272Tyr, NP_001381802.1:p.Asp272His, NP_001381801.1:p.Asp272Tyr, NP_001381801.1:p.Asp272His, NP_001387410.1:p.Asp272Tyr, NP_001387410.1:p.Asp272His, NP_001381803.1:p.Asp272Tyr, NP_001381803.1:p.Asp272His, NP_001387430.1:p.Asp272Tyr, NP_001387430.1:p.Asp272His, NP_001387429.1:p.Asp272Tyr, NP_001387429.1:p.Asp272His, NP_001381805.1:p.Asp272Tyr, NP_001381805.1:p.Asp272His, NP_001387413.1:p.Asp272Tyr, NP_001387413.1:p.Asp272His, NP_001387419.1:p.Asp272Tyr, NP_001387419.1:p.Asp272His, NP_001387425.1:p.Asp272Tyr, NP_001387425.1:p.Asp272His, NP_001381806.1:p.Asp272Tyr, NP_001381806.1:p.Asp272His, NP_001381804.1:p.Asp272Tyr, NP_001381804.1:p.Asp272His, NP_001387433.1:p.Asp272Tyr, NP_001387433.1:p.Asp272His, NP_001381808.1:p.Asp272Tyr, NP_001381808.1:p.Asp272His, NP_001381807.1:p.Asp260Tyr, NP_001381807.1:p.Asp260His, NP_001381810.1:p.Asp272Tyr, NP_001381810.1:p.Asp272His, NP_001381809.1:p.Asp293Tyr, NP_001381809.1:p.Asp293His, XP_011532202.1:p.Asp293Tyr, XP_011532202.1:p.Asp293His, XP_011532204.1:p.Asp293Tyr, XP_011532204.1:p.Asp293His, XP_011532205.1:p.Asp293Tyr, XP_011532205.1:p.Asp293His, XP_005265337.1:p.Asp272Tyr, XP_005265337.1:p.Asp272His, XP_016862223.1:p.Asp289Tyr, XP_016862223.1:p.Asp289His, XP_016862230.1:p.Asp293Tyr, XP_016862230.1:p.Asp293His, XP_016862216.1:p.Asp302Tyr, XP_016862216.1:p.Asp302His, XP_016862215.1:p.Asp302Tyr, XP_016862215.1:p.Asp302His, XP_016862219.1:p.Asp299Tyr, XP_016862219.1:p.Asp299His, XP_016862214.1:p.Asp302Tyr, XP_016862214.1:p.Asp302His, XP_016862217.1:p.Asp302Tyr, XP_016862217.1:p.Asp302His, XP_016862220.1:p.Asp299Tyr, XP_016862220.1:p.Asp299His, XP_024309387.1:p.Asp290Tyr, XP_024309387.1:p.Asp290His, XP_016862231.1:p.Asp293Tyr, XP_016862231.1:p.Asp293His, XP_016862233.1:p.Asp290Tyr, XP_016862233.1:p.Asp290His, XP_047304398.1:p.Asp302Tyr, XP_047304398.1:p.Asp302His, XP_047304399.1:p.Asp302Tyr, XP_047304399.1:p.Asp302His, XP_047304400.1:p.Asp298Tyr, XP_047304400.1:p.Asp298His, XP_047304402.1:p.Asp293Tyr, XP_047304402.1:p.Asp293His, XP_047304404.1:p.Asp293Tyr, XP_047304404.1:p.Asp293His, XP_047304406.1:p.Asp302Tyr, XP_047304406.1:p.Asp302His, XP_047304407.1:p.Asp302Tyr, XP_047304407.1:p.Asp302His, XP_047304412.1:p.Asp293Tyr, XP_047304412.1:p.Asp293His, XP_047304403.1:p.Asp293Tyr, XP_047304403.1:p.Asp293His, XP_047304401.1:p.Asp298Tyr, XP_047304401.1:p.Asp298His, XP_047304411.1:p.Asp289Tyr, XP_047304411.1:p.Asp289His, XP_047304410.1:p.Asp289Tyr, XP_047304410.1:p.Asp289His, XP_047304408.1:p.Asp290Tyr, XP_047304408.1:p.Asp290His, XP_047304409.1:p.Asp290Tyr, XP_047304409.1:p.Asp290His, XP_047304413.1:p.Asp292Tyr, XP_047304413.1:p.Asp292His, XP_047304415.1:p.Asp290Tyr, XP_047304415.1:p.Asp290His, XP_047304420.1:p.Asp293Tyr, XP_047304420.1:p.Asp293His, XP_047304405.1:p.Asp281Tyr, XP_047304405.1:p.Asp281His, XP_047304414.1:p.Asp272Tyr, XP_047304414.1:p.Asp272His, XP_047304416.1:p.Asp272Tyr, XP_047304416.1:p.Asp272His, XP_047304417.1:p.Asp272Tyr, XP_047304417.1:p.Asp272His, XP_047304418.1:p.Asp272Tyr, XP_047304418.1:p.Asp272His, XP_047304419.1:p.Asp272Tyr, XP_047304419.1:p.Asp272His, XP_047304421.1:p.Asp272Tyr, XP_047304421.1:p.Asp272His

                                  17.

                                  rs1473718435 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    3:52617298 (GRCh38)
                                    3:52651314 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:52617297:G:C
                                    Gene:
                                    PBRM1 (Varview)
                                    Functional Consequence:
                                    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000003.12:g.52617298G>C, NC_000003.11:g.52651314G>C, NG_032108.1:g.73553C>G, NM_181042.5:c.1782C>G, NM_181042.4:c.1782C>G, NM_181042.3:c.1782C>G, NM_181042.2:c.1782C>G, NM_181042.1:c.1782C>G, NM_018313.5:c.1782C>G, NM_018313.4:c.1782C>G, NM_001350077.2:c.1881C>G, NM_001350077.1:c.1881C>G, NM_001350078.2:c.1890C>G, NM_001350078.1:c.1890C>G, NM_001350074.2:c.1890C>G, NM_001350074.1:c.1890C>G, NM_001350076.2:c.1890C>G, NM_001350076.1:c.1890C>G, NM_001366071.2:c.1845C>G, NM_001366071.1:c.1845C>G, NM_001366074.2:c.1833C>G, NM_001366074.1:c.1833C>G, NM_001350079.2:c.1845C>G, NM_001350079.1:c.1845C>G, NM_001366070.2:c.1890C>G, NM_001366070.1:c.1890C>G, NM_001350075.2:c.1782C>G, NM_001350075.1:c.1782C>G, NM_001366072.2:c.1845C>G, NM_001366072.1:c.1845C>G, NM_001366073.2:c.1836C>G, NM_001366073.1:c.1836C>G, NM_001366075.2:c.1890C>G, NM_001366075.1:c.1890C>G, NM_001366076.2:c.1785C>G, NM_001366076.1:c.1785C>G, NM_001405603.1:c.1782C>G, NM_001405600.1:c.1836C>G, NM_001405552.1:c.1884C>G, NM_001394867.1:c.1782C>G, NM_001394869.1:c.1782C>G, NM_001405594.1:c.1782C>G, NM_001405567.1:c.1782C>G, NM_001405622.1:c.1845C>G, NM_001405588.1:c.1782C>G, NM_001405607.1:c.1827C>G, NM_001405583.1:c.1782C>G, NM_001405637.1:c.1800C>G, NM_001405601.1:c.1827C>G, NM_001405557.1:c.1782C>G, NM_001405561.1:c.1782C>G, NM_001405598.1:c.1809C>G, NR_175959.1:n.2004C>G, NM_001405570.1:c.1782C>G, NM_001400470.1:c.1782C>G, NM_001400472.1:c.1803C>G, NM_001405589.1:c.1782C>G, NM_001394868.1:c.1782C>G, NM_001405629.1:c.1782C>G, NM_001405641.1:c.1782C>G, NM_001405579.1:c.1782C>G, NM_001400479.1:c.1782C>G, NM_001405630.1:c.1782C>G, NM_001405590.1:c.1782C>G, NM_001400475.1:c.1782C>G, NM_001400474.1:c.1782C>G, NM_001405575.1:c.1782C>G, NM_001405632.1:c.1782C>G, NR_174502.1:n.1962C>G, NM_001405553.1:c.1845C>G, NM_001394870.1:c.1836C>G, NM_001405574.1:c.1836C>G, NM_001405623.1:c.1782C>G, NM_001405554.1:c.1890C>G, NM_001405559.1:c.1782C>G, NM_001405639.1:c.1782C>G, NM_001405596.1:c.-201C>G, NM_001405604.1:c.1686C>G, NM_001405558.1:c.1782C>G, NM_001405635.1:c.1782C>G, NM_001400471.1:c.1827C>G, NM_001405606.1:c.1686C>G, NM_001405638.1:c.1686C>G, NM_001405577.1:c.1782C>G, NM_001405571.1:c.1827C>G, NM_001405626.1:c.1782C>G, NM_001400487.1:c.1686C>G, NM_001405593.1:c.1782C>G, NM_001405591.1:c.1836C>G, NM_001405640.1:c.1782C>G, NM_001405568.1:c.1809C>G, NM_001405581.1:c.1782C>G, NM_001405569.1:c.1809C>G, NM_001405625.1:c.144C>G, NM_001405564.1:c.1809C>G, NM_001394871.1:c.1782C>G, NM_001405643.1:c.1782C>G, NM_001405584.1:c.1782C>G, NM_001400473.1:c.1782C>G, NM_001405628.1:c.1782C>G, NM_001394873.1:c.1782C>G, NM_001394872.1:c.1782C>G, NM_001405631.1:c.1782C>G, NM_001400481.1:c.1782C>G, NM_001405578.1:c.1782C>G, NM_001394874.1:c.1782C>G, NM_001400501.1:c.1782C>G, NM_001400500.1:c.1782C>G, NM_001394876.1:c.1782C>G, NM_001405586.1:c.1809C>G, NM_001405595.1:c.1713C>G, NM_001400484.1:c.1782C>G, NM_001405633.1:c.1782C>G, NM_001405565.1:c.1782C>G, NM_001405566.1:c.-201C>G, NM_001400490.1:c.1782C>G, NM_001405634.1:c.1782C>G, NM_001405592.1:c.1782C>G, NM_001405599.1:c.1686C>G, NM_001405582.1:c.1686C>G, NM_001405597.1:c.1665C>G, NM_001405636.1:c.1809C>G, NM_001405556.1:c.1782C>G, NM_001405587.1:c.1638C>G, NM_001405585.1:c.1782C>G, NM_001400496.1:c.1782C>G, NM_001405627.1:c.1782C>G, NM_001394877.1:c.1782C>G, NM_001394875.1:c.1782C>G, NM_001405624.1:c.1782C>G, NM_001405563.1:c.1782C>G, NM_001405572.1:c.1686C>G, NM_001405573.1:c.1596C>G, NM_001405580.1:c.1809C>G, NM_001400504.1:c.1782C>G, NM_001405605.1:c.1782C>G, NM_001405576.1:c.1782C>G, NM_001405602.1:c.1686C>G, NM_001405560.1:c.1683C>G, NM_001405642.1:c.1683C>G, NM_001405555.1:c.1782C>G, NM_001405609.1:c.1782C>G, NM_001394879.1:c.1686C>G, NM_001394878.1:c.1746C>G, NM_001405612.1:c.1782C>G, NM_001405610.1:c.1782C>G, NM_001405608.1:c.645C>G, NM_001405611.1:c.1782C>G, XM_011533900.4:c.1890C>G, XM_011533900.3:c.1890C>G, XM_011533900.2:c.1890C>G, XM_011533900.1:c.1890C>G, XM_011533902.4:c.1890C>G, XM_011533902.3:c.1890C>G, XM_011533902.2:c.1890C>G, XM_011533902.1:c.1890C>G, XM_011533903.4:c.1890C>G, XM_011533903.3:c.1890C>G, XM_011533903.2:c.1890C>G, XM_011533903.1:c.1890C>G, XM_005265280.4:c.1827C>G, NM_018165.4:c.1686C>G, XM_017006734.3:c.1878C>G, XM_017006734.2:c.1878C>G, XM_017006734.1:c.1878C>G, XM_017006741.3:c.1845C>G, XM_017006741.2:c.1845C>G, XM_017006741.1:c.1845C>G, NM_018165.3:c.1686C>G, XM_017006727.2:c.1917C>G, XM_017006727.1:c.1917C>G, XM_017006726.2:c.1917C>G, XM_017006726.1:c.1917C>G, XM_017006730.2:c.1908C>G, XM_017006730.1:c.1908C>G, XM_017006725.2:c.1917C>G, XM_017006725.1:c.1917C>G, XM_017006728.2:c.1917C>G, XM_017006728.1:c.1917C>G, XM_017006731.2:c.1908C>G, XM_017006731.1:c.1908C>G, XM_024453619.2:c.1881C>G, XM_024453619.1:c.1881C>G, XM_017006742.2:c.1845C>G, XM_017006742.1:c.1845C>G, XM_017006744.2:c.1836C>G, XM_017006744.1:c.1836C>G, NM_018165.2:c.1686C>G, XM_047448442.1:c.1917C>G, XM_047448443.1:c.1917C>G, XM_047448444.1:c.1905C>G, XM_047448446.1:c.1890C>G, XM_047448448.1:c.1890C>G, XM_047448450.1:c.1917C>G, XM_047448451.1:c.1917C>G, XM_047448456.1:c.1890C>G, XM_047448447.1:c.1890C>G, XM_047448445.1:c.1905C>G, XM_047448455.1:c.1833C>G, XM_047448454.1:c.1833C>G, XM_047448452.1:c.1836C>G, XM_047448453.1:c.1836C>G, XM_047448457.1:c.1887C>G, XM_047448459.1:c.1740C>G, XM_047448464.1:c.1845C>G, XM_047448449.1:c.1854C>G, XM_047448458.1:c.1782C>G, XM_047448460.1:c.1731C>G, XM_047448461.1:c.1782C>G, XM_047448462.1:c.1782C>G, XM_047448463.1:c.1686C>G, XM_047448465.1:c.1827C>G, NM_181041.1:c.1782C>G, NP_851385.1:p.Phe594Leu, NP_060783.3:p.Phe594Leu, NP_001337006.1:p.Phe627Leu, NP_001337007.1:p.Phe630Leu, NP_001337003.1:p.Phe630Leu, NP_001337005.1:p.Phe630Leu, NP_001353000.1:p.Phe615Leu, NP_001353003.1:p.Phe611Leu, NP_001337008.1:p.Phe615Leu, NP_001352999.1:p.Phe630Leu, NP_001337004.1:p.Phe594Leu, NP_001353001.1:p.Phe615Leu, NP_001353002.1:p.Phe612Leu, NP_001353004.1:p.Phe630Leu, NP_001353005.1:p.Phe595Leu, NP_001381796.1:p.Phe594Leu, NP_001381798.1:p.Phe594Leu, NP_001387399.1:p.Phe594Leu, NP_001387401.1:p.Phe601Leu, NP_001381797.1:p.Phe594Leu, NP_001387408.1:p.Phe594Leu, NP_001387404.1:p.Phe594Leu, NP_001387403.1:p.Phe594Leu, NP_001381799.1:p.Phe612Leu, NP_001387400.1:p.Phe609Leu, NP_001387416.1:p.Phe562Leu, NP_001381800.1:p.Phe594Leu, NP_001387402.1:p.Phe594Leu, NP_001381802.1:p.Phe594Leu, NP_001381801.1:p.Phe594Leu, NP_001387410.1:p.Phe594Leu, NP_001381803.1:p.Phe594Leu, NP_001387430.1:p.Phe594Leu, NP_001387429.1:p.Phe594Leu, NP_001381805.1:p.Phe594Leu, NP_001387413.1:p.Phe594Leu, NP_001387419.1:p.Phe594Leu, NP_001387425.1:p.Phe594Leu, NP_001381806.1:p.Phe594Leu, NP_001381804.1:p.Phe594Leu, NP_001387433.1:p.Phe594Leu, NP_001381808.1:p.Phe562Leu, NP_001381807.1:p.Phe582Leu, XP_011532202.1:p.Phe630Leu, XP_011532204.1:p.Phe630Leu, XP_011532205.1:p.Phe630Leu, XP_005265337.1:p.Phe609Leu, XP_016862223.1:p.Phe626Leu, XP_016862230.1:p.Phe615Leu, XP_016862216.1:p.Phe639Leu, XP_016862215.1:p.Phe639Leu, XP_016862219.1:p.Phe636Leu, XP_016862214.1:p.Phe639Leu, XP_016862217.1:p.Phe639Leu, XP_016862220.1:p.Phe636Leu, XP_024309387.1:p.Phe627Leu, XP_016862231.1:p.Phe615Leu, XP_016862233.1:p.Phe612Leu, XP_047304398.1:p.Phe639Leu, XP_047304399.1:p.Phe639Leu, XP_047304400.1:p.Phe635Leu, XP_047304402.1:p.Phe630Leu, XP_047304404.1:p.Phe630Leu, XP_047304406.1:p.Phe639Leu, XP_047304407.1:p.Phe639Leu, XP_047304412.1:p.Phe630Leu, XP_047304403.1:p.Phe630Leu, XP_047304401.1:p.Phe635Leu, XP_047304411.1:p.Phe611Leu, XP_047304410.1:p.Phe611Leu, XP_047304408.1:p.Phe612Leu, XP_047304409.1:p.Phe612Leu, XP_047304413.1:p.Phe629Leu, XP_047304415.1:p.Phe580Leu, XP_047304420.1:p.Phe615Leu, XP_047304405.1:p.Phe618Leu, XP_047304414.1:p.Phe594Leu, XP_047304416.1:p.Phe577Leu, XP_047304417.1:p.Phe594Leu, XP_047304418.1:p.Phe594Leu, XP_047304419.1:p.Phe562Leu, XP_047304421.1:p.Phe609Leu

                                    18.

                                    rs1472734102 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G,T [Show Flanks]
                                      Chromosome:
                                      3:52644787 (GRCh38)
                                      3:52678803 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:52644786:A:G,NC_000003.12:52644786:A:T
                                      Gene:
                                      PBRM1 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000003.12:g.52644787A>G, NC_000003.12:g.52644787A>T, NC_000003.11:g.52678803A>G, NC_000003.11:g.52678803A>T, NG_032108.1:g.46064T>C, NG_032108.1:g.46064T>A, NM_181042.5:c.816T>C, NM_181042.5:c.816T>A, NM_181042.4:c.816T>C, NM_181042.4:c.816T>A, NM_181042.3:c.816T>C, NM_181042.3:c.816T>A, NM_181042.2:c.816T>C, NM_181042.2:c.816T>A, NM_181042.1:c.816T>C, NM_181042.1:c.816T>A, NM_018313.5:c.816T>C, NM_018313.5:c.816T>A, NM_018313.4:c.816T>C, NM_018313.4:c.816T>A, NM_001350077.2:c.870T>C, NM_001350077.2:c.870T>A, NM_001350077.1:c.870T>C, NM_001350077.1:c.870T>A, NM_001350078.2:c.879T>C, NM_001350078.2:c.879T>A, NM_001350078.1:c.879T>C, NM_001350078.1:c.879T>A, NM_001350074.2:c.879T>C, NM_001350074.2:c.879T>A, NM_001350074.1:c.879T>C, NM_001350074.1:c.879T>A, NM_001350076.2:c.879T>C, NM_001350076.2:c.879T>A, NM_001350076.1:c.879T>C, NM_001350076.1:c.879T>A, NM_001366071.2:c.879T>C, NM_001366071.2:c.879T>A, NM_001366071.1:c.879T>C, NM_001366071.1:c.879T>A, NM_001366074.2:c.867T>C, NM_001366074.2:c.867T>A, NM_001366074.1:c.867T>C, NM_001366074.1:c.867T>A, NM_001350079.2:c.879T>C, NM_001350079.2:c.879T>A, NM_001350079.1:c.879T>C, NM_001350079.1:c.879T>A, NM_001366070.2:c.879T>C, NM_001366070.2:c.879T>A, NM_001366070.1:c.879T>C, NM_001366070.1:c.879T>A, NM_001350075.2:c.816T>C, NM_001350075.2:c.816T>A, NM_001350075.1:c.816T>C, NM_001350075.1:c.816T>A, NM_001366072.2:c.879T>C, NM_001366072.2:c.879T>A, NM_001366072.1:c.879T>C, NM_001366072.1:c.879T>A, NM_001366073.2:c.870T>C, NM_001366073.2:c.870T>A, NM_001366073.1:c.870T>C, NM_001366073.1:c.870T>A, NM_001366075.2:c.879T>C, NM_001366075.2:c.879T>A, NM_001366075.1:c.879T>C, NM_001366075.1:c.879T>A, NM_001366076.2:c.870T>C, NM_001366076.2:c.870T>A, NM_001366076.1:c.870T>C, NM_001366076.1:c.870T>A, NM_001405603.1:c.816T>C, NM_001405603.1:c.816T>A, NM_001405600.1:c.870T>C, NM_001405600.1:c.870T>A, NM_001405552.1:c.918T>C, NM_001405552.1:c.918T>A, NM_001394867.1:c.816T>C, NM_001394867.1:c.816T>A, NM_001394869.1:c.816T>C, NM_001394869.1:c.816T>A, NM_001405594.1:c.816T>C, NM_001405594.1:c.816T>A, NM_001405567.1:c.816T>C, NM_001405567.1:c.816T>A, NM_001405622.1:c.879T>C, NM_001405622.1:c.879T>A, NM_001405588.1:c.816T>C, NM_001405588.1:c.816T>A, NM_001405607.1:c.816T>C, NM_001405607.1:c.816T>A, NM_001405583.1:c.816T>C, NM_001405583.1:c.816T>A, NM_001405637.1:c.834T>C, NM_001405637.1:c.834T>A, NM_001405601.1:c.816T>C, NM_001405601.1:c.816T>A, NM_001405557.1:c.816T>C, NM_001405557.1:c.816T>A, NM_001405561.1:c.816T>C, NM_001405561.1:c.816T>A, NM_001405598.1:c.843T>C, NM_001405598.1:c.843T>A, NR_175959.1:n.993T>C, NR_175959.1:n.993T>A, NM_001405570.1:c.816T>C, NM_001405570.1:c.816T>A, NM_001400470.1:c.816T>C, NM_001400470.1:c.816T>A, NM_001400472.1:c.816T>C, NM_001400472.1:c.816T>A, NM_001405589.1:c.816T>C, NM_001405589.1:c.816T>A, NM_001394868.1:c.816T>C, NM_001394868.1:c.816T>A, NM_001405629.1:c.816T>C, NM_001405629.1:c.816T>A, NM_001405641.1:c.816T>C, NM_001405641.1:c.816T>A, NM_001405579.1:c.816T>C, NM_001405579.1:c.816T>A, NM_001400479.1:c.816T>C, NM_001400479.1:c.816T>A, NM_001405630.1:c.816T>C, NM_001405630.1:c.816T>A, NM_001405590.1:c.816T>C, NM_001405590.1:c.816T>A, NM_001400475.1:c.816T>C, NM_001400475.1:c.816T>A, NM_001400474.1:c.816T>C, NM_001400474.1:c.816T>A, NM_001405575.1:c.816T>C, NM_001405575.1:c.816T>A, NM_001405632.1:c.816T>C, NM_001405632.1:c.816T>A, NR_174502.1:n.996T>C, NR_174502.1:n.996T>A, NM_001405553.1:c.879T>C, NM_001405553.1:c.879T>A, NM_001394870.1:c.870T>C, NM_001394870.1:c.870T>A, NM_001405574.1:c.870T>C, NM_001405574.1:c.870T>A, NM_001405623.1:c.816T>C, NM_001405623.1:c.816T>A, NM_001405554.1:c.924T>C, NM_001405554.1:c.924T>A, NM_001405559.1:c.816T>C, NM_001405559.1:c.816T>A, NM_001405639.1:c.816T>C, NM_001405639.1:c.816T>A, NM_001405596.1:c.-1167T>C, NM_001405596.1:c.-1167T>A, NM_001405604.1:c.816T>C, NM_001405604.1:c.816T>A, NM_001405558.1:c.816T>C, NM_001405558.1:c.816T>A, NM_001405635.1:c.816T>C, NM_001405635.1:c.816T>A, NM_001400471.1:c.816T>C, NM_001400471.1:c.816T>A, NM_001405606.1:c.816T>C, NM_001405606.1:c.816T>A, NM_001405638.1:c.816T>C, NM_001405638.1:c.816T>A, NM_001405577.1:c.816T>C, NM_001405577.1:c.816T>A, NM_001405571.1:c.816T>C, NM_001405571.1:c.816T>A, NM_001405626.1:c.816T>C, NM_001405626.1:c.816T>A, NM_001400487.1:c.816T>C, NM_001400487.1:c.816T>A, NM_001405593.1:c.816T>C, NM_001405593.1:c.816T>A, NM_001405591.1:c.870T>C, NM_001405591.1:c.870T>A, NM_001405640.1:c.816T>C, NM_001405640.1:c.816T>A, NM_001405568.1:c.843T>C, NM_001405568.1:c.843T>A, NM_001405581.1:c.816T>C, NM_001405581.1:c.816T>A, NM_001405569.1:c.843T>C, NM_001405569.1:c.843T>A, NM_001405625.1:c.-675T>C, NM_001405625.1:c.-675T>A, NM_001405564.1:c.843T>C, NM_001405564.1:c.843T>A, NM_001394871.1:c.816T>C, NM_001394871.1:c.816T>A, NM_001405643.1:c.816T>C, NM_001405643.1:c.816T>A, NM_001405584.1:c.816T>C, NM_001405584.1:c.816T>A, NM_001400473.1:c.816T>C, NM_001400473.1:c.816T>A, NM_001405628.1:c.816T>C, NM_001405628.1:c.816T>A, NM_001394873.1:c.816T>C, NM_001394873.1:c.816T>A, NM_001394872.1:c.816T>C, NM_001394872.1:c.816T>A, NM_001405631.1:c.816T>C, NM_001405631.1:c.816T>A, NM_001400481.1:c.816T>C, NM_001400481.1:c.816T>A, NM_001405578.1:c.816T>C, NM_001405578.1:c.816T>A, NM_001394874.1:c.816T>C, NM_001394874.1:c.816T>A, NM_001400501.1:c.816T>C, NM_001400501.1:c.816T>A, NM_001400500.1:c.816T>C, NM_001400500.1:c.816T>A, NM_001394876.1:c.816T>C, NM_001394876.1:c.816T>A, NM_001405586.1:c.843T>C, NM_001405586.1:c.843T>A, NM_001405595.1:c.747T>C, NM_001405595.1:c.747T>A, NM_001400484.1:c.816T>C, NM_001400484.1:c.816T>A, NM_001405633.1:c.816T>C, NM_001405633.1:c.816T>A, NM_001405565.1:c.816T>C, NM_001405565.1:c.816T>A, NM_001405566.1:c.-1167T>C, NM_001405566.1:c.-1167T>A, NM_001400490.1:c.816T>C, NM_001400490.1:c.816T>A, NM_001405634.1:c.816T>C, NM_001405634.1:c.816T>A, NM_001405592.1:c.816T>C, NM_001405592.1:c.816T>A, NM_001405599.1:c.816T>C, NM_001405599.1:c.816T>A, NM_001405582.1:c.816T>C, NM_001405582.1:c.816T>A, NM_001405597.1:c.699T>C, NM_001405597.1:c.699T>A, NM_001405636.1:c.843T>C, NM_001405636.1:c.843T>A, NM_001405556.1:c.816T>C, NM_001405556.1:c.816T>A, NM_001405587.1:c.672T>C, NM_001405587.1:c.672T>A, NM_001405585.1:c.816T>C, NM_001405585.1:c.816T>A, NM_001400496.1:c.816T>C, NM_001400496.1:c.816T>A, NM_001405627.1:c.816T>C, NM_001405627.1:c.816T>A, NM_001394877.1:c.816T>C, NM_001394877.1:c.816T>A, NM_001394875.1:c.816T>C, NM_001394875.1:c.816T>A, NM_001405624.1:c.816T>C, NM_001405624.1:c.816T>A, NM_001405563.1:c.816T>C, NM_001405563.1:c.816T>A, NM_001405572.1:c.816T>C, NM_001405572.1:c.816T>A, NM_001405573.1:c.630T>C, NM_001405573.1:c.630T>A, NM_001405580.1:c.843T>C, NM_001405580.1:c.843T>A, NM_001400504.1:c.816T>C, NM_001400504.1:c.816T>A, NM_001405605.1:c.816T>C, NM_001405605.1:c.816T>A, NM_001405576.1:c.816T>C, NM_001405576.1:c.816T>A, NM_001405602.1:c.816T>C, NM_001405602.1:c.816T>A, NM_001405560.1:c.717T>C, NM_001405560.1:c.717T>A, NM_001405642.1:c.717T>C, NM_001405642.1:c.717T>A, NM_001405555.1:c.816T>C, NM_001405555.1:c.816T>A, NM_001405609.1:c.816T>C, NM_001405609.1:c.816T>A, NM_001394879.1:c.816T>C, NM_001394879.1:c.816T>A, NM_001394878.1:c.780T>C, NM_001394878.1:c.780T>A, NM_001405612.1:c.816T>C, NM_001405612.1:c.816T>A, NM_001405610.1:c.816T>C, NM_001405610.1:c.816T>A, NM_001405608.1:c.-134T>C, NM_001405608.1:c.-134T>A, NM_001405611.1:c.816T>C, NM_001405611.1:c.816T>A, NM_001394881.1:c.816T>C, NM_001394881.1:c.816T>A, NM_001405616.1:c.816T>C, NM_001405616.1:c.816T>A, NM_001394880.1:c.879T>C, NM_001394880.1:c.879T>A, NM_001405614.1:c.816T>C, NM_001405614.1:c.816T>A, NM_001405615.1:c.816T>C, NM_001405615.1:c.816T>A, NM_001405613.1:c.816T>C, NM_001405613.1:c.816T>A, XM_011533900.4:c.879T>C, XM_011533900.4:c.879T>A, XM_011533900.3:c.879T>C, XM_011533900.3:c.879T>A, XM_011533900.2:c.879T>C, XM_011533900.2:c.879T>A, XM_011533900.1:c.879T>C, XM_011533900.1:c.879T>A, XM_011533902.4:c.879T>C, XM_011533902.4:c.879T>A, XM_011533902.3:c.879T>C, XM_011533902.3:c.879T>A, XM_011533902.2:c.879T>C, XM_011533902.2:c.879T>A, XM_011533902.1:c.879T>C, XM_011533902.1:c.879T>A, XM_011533903.4:c.879T>C, XM_011533903.4:c.879T>A, XM_011533903.3:c.879T>C, XM_011533903.3:c.879T>A, XM_011533903.2:c.879T>C, XM_011533903.2:c.879T>A, XM_011533903.1:c.879T>C, XM_011533903.1:c.879T>A, XM_005265280.4:c.816T>C, XM_005265280.4:c.816T>A, NM_018165.4:c.816T>C, NM_018165.4:c.816T>A, XM_017006734.3:c.867T>C, XM_017006734.3:c.867T>A, XM_017006734.2:c.867T>C, XM_017006734.2:c.867T>A, XM_017006734.1:c.867T>C, XM_017006734.1:c.867T>A, XM_017006741.3:c.879T>C, XM_017006741.3:c.879T>A, XM_017006741.2:c.879T>C, XM_017006741.2:c.879T>A, XM_017006741.1:c.879T>C, XM_017006741.1:c.879T>A, NM_018165.3:c.816T>C, NM_018165.3:c.816T>A, XM_017006727.2:c.906T>C, XM_017006727.2:c.906T>A, XM_017006727.1:c.906T>C, XM_017006727.1:c.906T>A, XM_017006726.2:c.906T>C, XM_017006726.2:c.906T>A, XM_017006726.1:c.906T>C, XM_017006726.1:c.906T>A, XM_017006730.2:c.897T>C, XM_017006730.2:c.897T>A, XM_017006730.1:c.897T>C, XM_017006730.1:c.897T>A, XM_017006725.2:c.906T>C, XM_017006725.2:c.906T>A, XM_017006725.1:c.906T>C, XM_017006725.1:c.906T>A, XM_017006728.2:c.906T>C, XM_017006728.2:c.906T>A, XM_017006728.1:c.906T>C, XM_017006728.1:c.906T>A, XM_017006731.2:c.897T>C, XM_017006731.2:c.897T>A, XM_017006731.1:c.897T>C, XM_017006731.1:c.897T>A, XM_024453619.2:c.870T>C, XM_024453619.2:c.870T>A, XM_024453619.1:c.870T>C, XM_024453619.1:c.870T>A, XM_017006742.2:c.879T>C, XM_017006742.2:c.879T>A, XM_017006742.1:c.879T>C, XM_017006742.1:c.879T>A, XM_017006744.2:c.870T>C, XM_017006744.2:c.870T>A, XM_017006744.1:c.870T>C, XM_017006744.1:c.870T>A, NM_018165.2:c.816T>C, NM_018165.2:c.816T>A, XM_047448442.1:c.906T>C, XM_047448442.1:c.906T>A, XM_047448443.1:c.906T>C, XM_047448443.1:c.906T>A, XM_047448444.1:c.894T>C, XM_047448444.1:c.894T>A, XM_047448446.1:c.879T>C, XM_047448446.1:c.879T>A, XM_047448448.1:c.879T>C, XM_047448448.1:c.879T>A, XM_047448450.1:c.906T>C, XM_047448450.1:c.906T>A, XM_047448451.1:c.906T>C, XM_047448451.1:c.906T>A, XM_047448456.1:c.879T>C, XM_047448456.1:c.879T>A, XM_047448447.1:c.879T>C, XM_047448447.1:c.879T>A, XM_047448445.1:c.894T>C, XM_047448445.1:c.894T>A, XM_047448455.1:c.867T>C, XM_047448455.1:c.867T>A, XM_047448454.1:c.867T>C, XM_047448454.1:c.867T>A, XM_047448452.1:c.870T>C, XM_047448452.1:c.870T>A, XM_047448453.1:c.870T>C, XM_047448453.1:c.870T>A, XM_047448457.1:c.876T>C, XM_047448457.1:c.876T>A, XM_047448459.1:c.870T>C, XM_047448459.1:c.870T>A, XM_047448464.1:c.879T>C, XM_047448464.1:c.879T>A, XM_047448449.1:c.843T>C, XM_047448449.1:c.843T>A, XM_047448458.1:c.816T>C, XM_047448458.1:c.816T>A, XM_047448460.1:c.816T>C, XM_047448460.1:c.816T>A, XM_047448461.1:c.816T>C, XM_047448461.1:c.816T>A, XM_047448462.1:c.816T>C, XM_047448462.1:c.816T>A, XM_047448463.1:c.816T>C, XM_047448463.1:c.816T>A, XM_047448465.1:c.816T>C, XM_047448465.1:c.816T>A, NM_181041.1:c.816T>C, NM_181041.1:c.816T>A, NP_851385.1:p.Asp272Glu, NP_060783.3:p.Asp272Glu, NP_001337006.1:p.Asp290Glu, NP_001337007.1:p.Asp293Glu, NP_001337003.1:p.Asp293Glu, NP_001337005.1:p.Asp293Glu, NP_001353000.1:p.Asp293Glu, NP_001353003.1:p.Asp289Glu, NP_001337008.1:p.Asp293Glu, NP_001352999.1:p.Asp293Glu, NP_001337004.1:p.Asp272Glu, NP_001353001.1:p.Asp293Glu, NP_001353002.1:p.Asp290Glu, NP_001353004.1:p.Asp293Glu, NP_001353005.1:p.Asp290Glu, NP_001381796.1:p.Asp272Glu, NP_001381798.1:p.Asp272Glu, NP_001387399.1:p.Asp272Glu, NP_001387401.1:p.Asp272Glu, NP_001381797.1:p.Asp272Glu, NP_001387408.1:p.Asp272Glu, NP_001387404.1:p.Asp272Glu, NP_001387403.1:p.Asp272Glu, NP_001381799.1:p.Asp290Glu, NP_001387400.1:p.Asp272Glu, NP_001387416.1:p.Asp272Glu, NP_001381800.1:p.Asp272Glu, NP_001387402.1:p.Asp272Glu, NP_001381802.1:p.Asp272Glu, NP_001381801.1:p.Asp272Glu, NP_001387410.1:p.Asp272Glu, NP_001381803.1:p.Asp272Glu, NP_001387430.1:p.Asp272Glu, NP_001387429.1:p.Asp272Glu, NP_001381805.1:p.Asp272Glu, NP_001387413.1:p.Asp272Glu, NP_001387419.1:p.Asp272Glu, NP_001387425.1:p.Asp272Glu, NP_001381806.1:p.Asp272Glu, NP_001381804.1:p.Asp272Glu, NP_001387433.1:p.Asp272Glu, NP_001381808.1:p.Asp272Glu, NP_001381807.1:p.Asp260Glu, NP_001381810.1:p.Asp272Glu, NP_001381809.1:p.Asp293Glu, XP_011532202.1:p.Asp293Glu, XP_011532204.1:p.Asp293Glu, XP_011532205.1:p.Asp293Glu, XP_005265337.1:p.Asp272Glu, XP_016862223.1:p.Asp289Glu, XP_016862230.1:p.Asp293Glu, XP_016862216.1:p.Asp302Glu, XP_016862215.1:p.Asp302Glu, XP_016862219.1:p.Asp299Glu, XP_016862214.1:p.Asp302Glu, XP_016862217.1:p.Asp302Glu, XP_016862220.1:p.Asp299Glu, XP_024309387.1:p.Asp290Glu, XP_016862231.1:p.Asp293Glu, XP_016862233.1:p.Asp290Glu, XP_047304398.1:p.Asp302Glu, XP_047304399.1:p.Asp302Glu, XP_047304400.1:p.Asp298Glu, XP_047304402.1:p.Asp293Glu, XP_047304404.1:p.Asp293Glu, XP_047304406.1:p.Asp302Glu, XP_047304407.1:p.Asp302Glu, XP_047304412.1:p.Asp293Glu, XP_047304403.1:p.Asp293Glu, XP_047304401.1:p.Asp298Glu, XP_047304411.1:p.Asp289Glu, XP_047304410.1:p.Asp289Glu, XP_047304408.1:p.Asp290Glu, XP_047304409.1:p.Asp290Glu, XP_047304413.1:p.Asp292Glu, XP_047304415.1:p.Asp290Glu, XP_047304420.1:p.Asp293Glu, XP_047304405.1:p.Asp281Glu, XP_047304414.1:p.Asp272Glu, XP_047304416.1:p.Asp272Glu, XP_047304417.1:p.Asp272Glu, XP_047304418.1:p.Asp272Glu, XP_047304419.1:p.Asp272Glu, XP_047304421.1:p.Asp272Glu

                                      19.

                                      rs1472358255 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        3:52550777 (GRCh38)
                                        3:52584793 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:52550776:T:C
                                        Gene:
                                        PBRM1 (Varview), LOC124909379 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000003.12:g.52550777T>C, NC_000003.11:g.52584793T>C, NG_032108.1:g.140074A>G, NM_181042.5:c.4329A>G, NM_181042.4:c.4329A>G, NM_181042.3:c.4329A>G, NM_181042.2:c.4329A>G, NM_181042.1:c.4329A>G, NM_018313.5:c.4329A>G, NM_018313.4:c.4329A>G, NM_001350077.2:c.4428A>G, NM_001350077.1:c.4428A>G, NM_001350078.2:c.4437A>G, NM_001350078.1:c.4437A>G, NM_001350074.2:c.4437A>G, NM_001350074.1:c.4437A>G, NM_001350076.2:c.4434A>G, NM_001350076.1:c.4434A>G, NM_001366071.2:c.4557A>G, NM_001366071.1:c.4557A>G, NM_001366074.2:c.4380A>G, NM_001366074.1:c.4380A>G, NM_001350079.2:c.4317A>G, NM_001350079.1:c.4317A>G, NM_001366070.2:c.4437A>G, NM_001366070.1:c.4437A>G, NM_001350075.2:c.4485A>G, NM_001350075.1:c.4485A>G, NM_001366072.2:c.4392A>G, NM_001366072.1:c.4392A>G, NM_001366073.2:c.4383A>G, NM_001366073.1:c.4383A>G, NM_001366075.2:c.4362A>G, NM_001366075.1:c.4362A>G, NM_001366076.2:c.4332A>G, NM_001366076.1:c.4332A>G, NM_001405603.1:c.4650A>G, NM_001405600.1:c.4539A>G, NM_001405552.1:c.4596A>G, NM_001394867.1:c.4650A>G, NM_001394869.1:c.4650A>G, NM_001405594.1:c.4650A>G, NM_001405567.1:c.4647A>G, NM_001405622.1:c.4548A>G, NM_001405588.1:c.4575A>G, NM_001405607.1:c.4695A>G, NM_001405583.1:c.4494A>G, NM_001405637.1:c.4503A>G, NM_001405601.1:c.4695A>G, NM_001405557.1:c.4485A>G, NM_001405561.1:c.4482A>G, NM_001405598.1:c.4677A>G, NR_175959.1:n.4839A>G, NM_001405570.1:c.4656A>G, NM_001400470.1:c.4650A>G, NM_001400472.1:c.4506A>G, NM_001405589.1:c.4647A>G, NM_001394868.1:c.4650A>G, NM_001405629.1:c.4647A>G, NM_001405641.1:c.4494A>G, NM_001405579.1:c.4491A>G, NM_001400479.1:c.4485A>G, NM_001405630.1:c.4485A>G, NM_001405590.1:c.4482A>G, NM_001400475.1:c.4485A>G, NM_001400474.1:c.4485A>G, NM_001405575.1:c.4482A>G, NM_001405632.1:c.4482A>G, NR_174502.1:n.4797A>G, NM_001405553.1:c.4548A>G, NM_001394870.1:c.4539A>G, NM_001405574.1:c.4536A>G, NM_001405623.1:c.4485A>G, NM_001405554.1:c.4590A>G, NM_001405559.1:c.4575A>G, NM_001405639.1:c.4575A>G, NM_001405596.1:c.2577A>G, NM_001405604.1:c.4554A>G, NM_001405558.1:c.4410A>G, NM_001405635.1:c.4410A>G, NM_001400471.1:c.4539A>G, NM_001405606.1:c.4389A>G, NM_001405638.1:c.4389A>G, NM_001405577.1:c.4329A>G, NM_001405571.1:c.4530A>G, NM_001405626.1:c.4329A>G, NM_001400487.1:c.4389A>G, NM_001405593.1:c.4329A>G, NM_001405591.1:c.4464A>G, NM_001405640.1:c.4329A>G, NM_001405568.1:c.4512A>G, NM_001405581.1:c.4650A>G, NM_001405569.1:c.4509A>G, NM_001405625.1:c.3009A>G, NM_001405564.1:c.4356A>G, NM_001394871.1:c.4494A>G, NM_001405643.1:c.4494A>G, NM_001405584.1:c.4494A>G, NM_001400473.1:c.4491A>G, NM_001405628.1:c.4485A>G, NM_001394873.1:c.4482A>G, NM_001394872.1:c.4485A>G, NM_001405631.1:c.4485A>G, NM_001400481.1:c.4482A>G, NM_001405578.1:c.4482A>G, NM_001394874.1:c.4482A>G, NM_001400501.1:c.4329A>G, NM_001400500.1:c.4329A>G, NM_001394876.1:c.4326A>G, NM_001405586.1:c.4434A>G, NM_001405595.1:c.4416A>G, NM_001400484.1:c.4410A>G, NM_001405633.1:c.4410A>G, NM_001405565.1:c.4410A>G, NM_001405566.1:c.2421A>G, NM_001400490.1:c.4254A>G, NM_001405634.1:c.4254A>G, NM_001405592.1:c.4254A>G, NM_001405599.1:c.4389A>G, NM_001405582.1:c.4389A>G, NM_001405597.1:c.4368A>G, NM_001405636.1:c.4356A>G, NM_001405556.1:c.4485A>G, NM_001405587.1:c.4341A>G, NM_001405585.1:c.4482A>G, NM_001400496.1:c.4329A>G, NM_001405627.1:c.4329A>G, NM_001394877.1:c.4326A>G, NM_001394875.1:c.4329A>G, NM_001405624.1:c.4326A>G, NM_001405563.1:c.4326A>G, NM_001405572.1:c.4311A>G, NM_001405573.1:c.4296A>G, NM_001405580.1:c.4275A>G, NM_001400504.1:c.4254A>G, NM_001405605.1:c.4254A>G, NM_001405576.1:c.4251A>G, NM_001405602.1:c.4230A>G, NM_001405560.1:c.4230A>G, NM_001405642.1:c.4230A>G, NM_001405555.1:c.4329A>G, NM_001405609.1:c.4485A>G, NM_001394878.1:c.4293A>G, NM_001405608.1:c.3273A>G, XM_011533900.4:c.4758A>G, XM_011533900.3:c.4758A>G, XM_011533900.2:c.4758A>G, XM_011533900.1:c.4758A>G, XM_011533902.4:c.4758A>G, XM_011533902.3:c.4758A>G, XM_011533902.2:c.4758A>G, XM_011533902.1:c.4758A>G, XM_011533903.4:c.4758A>G, XM_011533903.3:c.4758A>G, XM_011533903.2:c.4758A>G, XM_011533903.1:c.4758A>G, XM_005265280.4:c.4695A>G, NM_018165.4:c.4389A>G, XM_017006734.3:c.4746A>G, XM_017006734.2:c.4746A>G, XM_017006734.1:c.4746A>G, XM_017006741.3:c.4713A>G, XM_017006741.2:c.4713A>G, XM_017006741.1:c.4713A>G, NM_018165.3:c.4389A>G, XM_017006727.2:c.4785A>G, XM_017006727.1:c.4785A>G, XM_017006726.2:c.4785A>G, XM_017006726.1:c.4785A>G, XM_017006730.2:c.4776A>G, XM_017006730.1:c.4776A>G, XM_017006725.2:c.4785A>G, XM_017006725.1:c.4785A>G, XM_017006728.2:c.4785A>G, XM_017006728.1:c.4785A>G, XM_017006731.2:c.4776A>G, XM_017006731.1:c.4776A>G, XM_024453619.2:c.4749A>G, XM_024453619.1:c.4749A>G, XM_017006742.2:c.4713A>G, XM_017006742.1:c.4713A>G, XM_017006744.2:c.4704A>G, XM_017006744.1:c.4704A>G, NM_018165.2:c.4389A>G, XM_047448442.1:c.4785A>G, XM_047448443.1:c.4782A>G, XM_047448444.1:c.4773A>G, XM_047448446.1:c.4758A>G, XM_047448448.1:c.4755A>G, XM_047448450.1:c.4710A>G, XM_047448451.1:c.4707A>G, XM_047448456.1:c.4683A>G, XM_047448447.1:c.4758A>G, XM_047448445.1:c.4773A>G, XM_047448455.1:c.4701A>G, XM_047448454.1:c.4701A>G, XM_047448452.1:c.4704A>G, XM_047448453.1:c.4701A>G, XM_047448457.1:c.4680A>G, XM_047448459.1:c.4608A>G, XM_047448464.1:c.4548A>G, XM_047448449.1:c.4722A>G, XM_047448458.1:c.4647A>G, XM_047448460.1:c.4599A>G, XM_047448461.1:c.4575A>G, XM_047448462.1:c.4572A>G, XM_047448463.1:c.4554A>G, XM_047448465.1:c.4530A>G, NM_181041.1:c.*1699A>G, NM_018165.1:c.501A>G

                                        20.

                                        rs1471300592 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          3:52615444 (GRCh38)
                                          3:52649460 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:52615443:C:T
                                          Gene:
                                          PBRM1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000008/2 (GnomAD_exomes)
                                          HGVS:
                                          NC_000003.12:g.52615444C>T, NC_000003.11:g.52649460C>T, NG_032108.1:g.75407G>A, NM_181042.5:c.1831G>A, NM_181042.4:c.1831G>A, NM_181042.3:c.1831G>A, NM_181042.2:c.1831G>A, NM_181042.1:c.1831G>A, NM_018313.5:c.1831G>A, NM_018313.4:c.1831G>A, NM_001350077.2:c.1930G>A, NM_001350077.1:c.1930G>A, NM_001350078.2:c.1939G>A, NM_001350078.1:c.1939G>A, NM_001350074.2:c.1939G>A, NM_001350074.1:c.1939G>A, NM_001350076.2:c.1939G>A, NM_001350076.1:c.1939G>A, NM_001366071.2:c.1894G>A, NM_001366071.1:c.1894G>A, NM_001366074.2:c.1882G>A, NM_001366074.1:c.1882G>A, NM_001350079.2:c.1894G>A, NM_001350079.1:c.1894G>A, NM_001366070.2:c.1939G>A, NM_001366070.1:c.1939G>A, NM_001350075.2:c.1831G>A, NM_001350075.1:c.1831G>A, NM_001366072.2:c.1894G>A, NM_001366072.1:c.1894G>A, NM_001366073.2:c.1885G>A, NM_001366073.1:c.1885G>A, NM_001366075.2:c.1939G>A, NM_001366075.1:c.1939G>A, NM_001366076.2:c.1834G>A, NM_001366076.1:c.1834G>A, NM_001405603.1:c.1831G>A, NM_001405600.1:c.1885G>A, NM_001405552.1:c.1933G>A, NM_001394867.1:c.1831G>A, NM_001394869.1:c.1831G>A, NM_001405594.1:c.1831G>A, NM_001405567.1:c.1831G>A, NM_001405622.1:c.1894G>A, NM_001405588.1:c.1831G>A, NM_001405607.1:c.1876G>A, NM_001405583.1:c.1831G>A, NM_001405637.1:c.1849G>A, NM_001405601.1:c.1876G>A, NM_001405557.1:c.1831G>A, NM_001405561.1:c.1831G>A, NM_001405598.1:c.1858G>A, NR_175959.1:n.2053G>A, NM_001405570.1:c.1831G>A, NM_001400470.1:c.1831G>A, NM_001400472.1:c.1852G>A, NM_001405589.1:c.1831G>A, NM_001394868.1:c.1831G>A, NM_001405629.1:c.1831G>A, NM_001405641.1:c.1831G>A, NM_001405579.1:c.1831G>A, NM_001400479.1:c.1831G>A, NM_001405630.1:c.1831G>A, NM_001405590.1:c.1831G>A, NM_001400475.1:c.1831G>A, NM_001400474.1:c.1831G>A, NM_001405575.1:c.1831G>A, NM_001405632.1:c.1831G>A, NR_174502.1:n.2011G>A, NM_001405553.1:c.1894G>A, NM_001394870.1:c.1885G>A, NM_001405574.1:c.1885G>A, NM_001405623.1:c.1831G>A, NM_001405554.1:c.1939G>A, NM_001405559.1:c.1831G>A, NM_001405639.1:c.1831G>A, NM_001405596.1:c.-152G>A, NM_001405604.1:c.1735G>A, NM_001405558.1:c.1831G>A, NM_001405635.1:c.1831G>A, NM_001400471.1:c.1876G>A, NM_001405606.1:c.1735G>A, NM_001405638.1:c.1735G>A, NM_001405577.1:c.1831G>A, NM_001405571.1:c.1876G>A, NM_001405626.1:c.1831G>A, NM_001400487.1:c.1735G>A, NM_001405593.1:c.1831G>A, NM_001405591.1:c.1885G>A, NM_001405640.1:c.1831G>A, NM_001405568.1:c.1858G>A, NM_001405581.1:c.1831G>A, NM_001405569.1:c.1858G>A, NM_001405625.1:c.193G>A, NM_001405564.1:c.1858G>A, NM_001394871.1:c.1831G>A, NM_001405643.1:c.1831G>A, NM_001405584.1:c.1831G>A, NM_001400473.1:c.1831G>A, NM_001405628.1:c.1831G>A, NM_001394873.1:c.1831G>A, NM_001394872.1:c.1831G>A, NM_001405631.1:c.1831G>A, NM_001400481.1:c.1831G>A, NM_001405578.1:c.1831G>A, NM_001394874.1:c.1831G>A, NM_001400501.1:c.1831G>A, NM_001400500.1:c.1831G>A, NM_001394876.1:c.1831G>A, NM_001405586.1:c.1858G>A, NM_001405595.1:c.1762G>A, NM_001400484.1:c.1831G>A, NM_001405633.1:c.1831G>A, NM_001405565.1:c.1831G>A, NM_001405566.1:c.-152G>A, NM_001400490.1:c.1831G>A, NM_001405634.1:c.1831G>A, NM_001405592.1:c.1831G>A, NM_001405599.1:c.1735G>A, NM_001405582.1:c.1735G>A, NM_001405597.1:c.1714G>A, NM_001405636.1:c.1858G>A, NM_001405556.1:c.1831G>A, NM_001405587.1:c.1687G>A, NM_001405585.1:c.1831G>A, NM_001400496.1:c.1831G>A, NM_001405627.1:c.1831G>A, NM_001394877.1:c.1831G>A, NM_001394875.1:c.1831G>A, NM_001405624.1:c.1831G>A, NM_001405563.1:c.1831G>A, NM_001405572.1:c.1735G>A, NM_001405573.1:c.1645G>A, NM_001405580.1:c.1858G>A, NM_001400504.1:c.1831G>A, NM_001405605.1:c.1831G>A, NM_001405576.1:c.1831G>A, NM_001405602.1:c.1735G>A, NM_001405560.1:c.1732G>A, NM_001405642.1:c.1732G>A, NM_001405555.1:c.1831G>A, NM_001405609.1:c.1831G>A, NM_001394879.1:c.1735G>A, NM_001394878.1:c.1795G>A, NM_001405612.1:c.1831G>A, NM_001405610.1:c.1831G>A, NM_001405608.1:c.694G>A, NM_001405611.1:c.1831G>A, XM_011533900.4:c.1939G>A, XM_011533900.3:c.1939G>A, XM_011533900.2:c.1939G>A, XM_011533900.1:c.1939G>A, XM_011533902.4:c.1939G>A, XM_011533902.3:c.1939G>A, XM_011533902.2:c.1939G>A, XM_011533902.1:c.1939G>A, XM_011533903.4:c.1939G>A, XM_011533903.3:c.1939G>A, XM_011533903.2:c.1939G>A, XM_011533903.1:c.1939G>A, XM_005265280.4:c.1876G>A, NM_018165.4:c.1735G>A, XM_017006734.3:c.1927G>A, XM_017006734.2:c.1927G>A, XM_017006734.1:c.1927G>A, XM_017006741.3:c.1894G>A, XM_017006741.2:c.1894G>A, XM_017006741.1:c.1894G>A, NM_018165.3:c.1735G>A, XM_017006727.2:c.1966G>A, XM_017006727.1:c.1966G>A, XM_017006726.2:c.1966G>A, XM_017006726.1:c.1966G>A, XM_017006730.2:c.1957G>A, XM_017006730.1:c.1957G>A, XM_017006725.2:c.1966G>A, XM_017006725.1:c.1966G>A, XM_017006728.2:c.1966G>A, XM_017006728.1:c.1966G>A, XM_017006731.2:c.1957G>A, XM_017006731.1:c.1957G>A, XM_024453619.2:c.1930G>A, XM_024453619.1:c.1930G>A, XM_017006742.2:c.1894G>A, XM_017006742.1:c.1894G>A, XM_017006744.2:c.1885G>A, XM_017006744.1:c.1885G>A, NM_018165.2:c.1735G>A, XM_047448442.1:c.1966G>A, XM_047448443.1:c.1966G>A, XM_047448444.1:c.1954G>A, XM_047448446.1:c.1939G>A, XM_047448448.1:c.1939G>A, XM_047448450.1:c.1966G>A, XM_047448451.1:c.1966G>A, XM_047448456.1:c.1939G>A, XM_047448447.1:c.1939G>A, XM_047448445.1:c.1954G>A, XM_047448455.1:c.1882G>A, XM_047448454.1:c.1882G>A, XM_047448452.1:c.1885G>A, XM_047448453.1:c.1885G>A, XM_047448457.1:c.1936G>A, XM_047448459.1:c.1789G>A, XM_047448464.1:c.1894G>A, XM_047448449.1:c.1903G>A, XM_047448458.1:c.1831G>A, XM_047448460.1:c.1780G>A, XM_047448461.1:c.1831G>A, XM_047448462.1:c.1831G>A, XM_047448463.1:c.1735G>A, XM_047448465.1:c.1876G>A, NM_181041.1:c.1831G>A, NP_851385.1:p.Ala611Thr, NP_060783.3:p.Ala611Thr, NP_001337006.1:p.Ala644Thr, NP_001337007.1:p.Ala647Thr, NP_001337003.1:p.Ala647Thr, NP_001337005.1:p.Ala647Thr, NP_001353000.1:p.Ala632Thr, NP_001353003.1:p.Ala628Thr, NP_001337008.1:p.Ala632Thr, NP_001352999.1:p.Ala647Thr, NP_001337004.1:p.Ala611Thr, NP_001353001.1:p.Ala632Thr, NP_001353002.1:p.Ala629Thr, NP_001353004.1:p.Ala647Thr, NP_001353005.1:p.Ala612Thr, NP_001381796.1:p.Ala611Thr, NP_001381798.1:p.Ala611Thr, NP_001387399.1:p.Ala611Thr, NP_001387401.1:p.Ala618Thr, NP_001381797.1:p.Ala611Thr, NP_001387408.1:p.Ala611Thr, NP_001387404.1:p.Ala611Thr, NP_001387403.1:p.Ala611Thr, NP_001381799.1:p.Ala629Thr, NP_001387400.1:p.Ala626Thr, NP_001387416.1:p.Ala579Thr, NP_001381800.1:p.Ala611Thr, NP_001387402.1:p.Ala611Thr, NP_001381802.1:p.Ala611Thr, NP_001381801.1:p.Ala611Thr, NP_001387410.1:p.Ala611Thr, NP_001381803.1:p.Ala611Thr, NP_001387430.1:p.Ala611Thr, NP_001387429.1:p.Ala611Thr, NP_001381805.1:p.Ala611Thr, NP_001387413.1:p.Ala611Thr, NP_001387419.1:p.Ala611Thr, NP_001387425.1:p.Ala611Thr, NP_001381806.1:p.Ala611Thr, NP_001381804.1:p.Ala611Thr, NP_001387433.1:p.Ala611Thr, NP_001381808.1:p.Ala579Thr, NP_001381807.1:p.Ala599Thr, XP_011532202.1:p.Ala647Thr, XP_011532204.1:p.Ala647Thr, XP_011532205.1:p.Ala647Thr, XP_005265337.1:p.Ala626Thr, XP_016862223.1:p.Ala643Thr, XP_016862230.1:p.Ala632Thr, XP_016862216.1:p.Ala656Thr, XP_016862215.1:p.Ala656Thr, XP_016862219.1:p.Ala653Thr, XP_016862214.1:p.Ala656Thr, XP_016862217.1:p.Ala656Thr, XP_016862220.1:p.Ala653Thr, XP_024309387.1:p.Ala644Thr, XP_016862231.1:p.Ala632Thr, XP_016862233.1:p.Ala629Thr, XP_047304398.1:p.Ala656Thr, XP_047304399.1:p.Ala656Thr, XP_047304400.1:p.Ala652Thr, XP_047304402.1:p.Ala647Thr, XP_047304404.1:p.Ala647Thr, XP_047304406.1:p.Ala656Thr, XP_047304407.1:p.Ala656Thr, XP_047304412.1:p.Ala647Thr, XP_047304403.1:p.Ala647Thr, XP_047304401.1:p.Ala652Thr, XP_047304411.1:p.Ala628Thr, XP_047304410.1:p.Ala628Thr, XP_047304408.1:p.Ala629Thr, XP_047304409.1:p.Ala629Thr, XP_047304413.1:p.Ala646Thr, XP_047304415.1:p.Ala597Thr, XP_047304420.1:p.Ala632Thr, XP_047304405.1:p.Ala635Thr, XP_047304414.1:p.Ala611Thr, XP_047304416.1:p.Ala594Thr, XP_047304417.1:p.Ala611Thr, XP_047304418.1:p.Ala611Thr, XP_047304419.1:p.Ala579Thr, XP_047304421.1:p.Ala626Thr

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