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Items: 1 to 20 of 458

1.

rs1489991464 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    7:148817276 (GRCh38)
    7:148514368 (GRCh37)
    Canonical SPDI:
    NC_000007.14:148817275:G:A
    Gene:
    EZH2 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant,intron_variant
    Validated:
    by frequency,by cluster
    MAF:
    A=0.000012/3 (GnomAD_exomes)
    HGVS:
    NC_000007.14:g.148817276G>A, NC_000007.13:g.148514368G>A, NG_032043.1:g.72074C>T, NM_004456.5:c.1356C>T, NM_004456.4:c.1356C>T, NM_152998.3:c.1224C>T, NM_152998.2:c.1224C>T, NM_001203249.2:c.1314C>T, NM_001203249.1:c.1314C>T, NM_001203247.2:c.1341C>T, NM_001203247.1:c.1341C>T, NM_001203248.2:c.1314C>T, NM_001203248.1:c.1314C>T, XM_005249963.5:c.1338C>T, XM_005249963.4:c.1338C>T, XM_005249963.3:c.1338C>T, XM_005249963.2:c.1338C>T, XM_005249963.1:c.1338C>T, XM_005249964.5:c.1338C>T, XM_005249964.4:c.1338C>T, XM_005249964.3:c.1338C>T, XM_005249964.2:c.1338C>T, XM_005249964.1:c.1338C>T, XM_005249962.5:c.1365C>T, XM_005249962.4:c.1365C>T, XM_005249962.3:c.1365C>T, XM_005249962.2:c.1365C>T, XM_005249962.1:c.1365C>T, XM_011515899.4:c.1380C>T, XM_011515899.3:c.1380C>T, XM_011515899.2:c.1380C>T, XM_011515899.1:c.1380C>T, XM_011515887.4:c.1329C>T, XM_011515887.3:c.1329C>T, XM_011515887.2:c.1329C>T, XM_011515887.1:c.1329C>T, XM_017011817.3:c.1380C>T, XM_017011817.2:c.1380C>T, XM_017011817.1:c.1380C>T, XM_011515885.3:c.1353C>T, XM_011515885.2:c.1353C>T, XM_011515885.1:c.1353C>T, XM_011515890.3:c.1263C>T, XM_011515890.2:c.1263C>T, XM_011515890.1:c.1263C>T, XM_011515892.3:c.1380C>T, XM_011515892.2:c.1380C>T, XM_011515892.1:c.1380C>T, XM_011515893.3:c.1248C>T, XM_011515893.2:c.1248C>T, XM_011515893.1:c.1248C>T, XM_011515895.3:c.1236C>T, XM_011515895.2:c.1236C>T, XM_011515895.1:c.1236C>T, XM_011515896.3:c.1248C>T, XM_011515896.2:c.1248C>T, XM_011515896.1:c.1248C>T, XM_011515883.3:c.1380C>T, XM_011515883.2:c.1380C>T, XM_011515883.1:c.1380C>T, XM_011515889.3:c.1290C>T, XM_011515889.2:c.1290C>T, XM_011515889.1:c.1290C>T, XM_011515894.3:c.1239C>T, XM_011515894.2:c.1239C>T, XM_011515894.1:c.1239C>T, XM_017011820.3:c.1212C>T, XM_017011820.2:c.1212C>T, XM_017011820.1:c.1212C>T, XM_017011819.2:c.1365C>T, XM_017011819.1:c.1365C>T, XM_047420000.1:c.1221C>T, XM_047419989.1:c.1380C>T, XM_047419994.1:c.1338C>T, XM_047419990.1:c.1365C>T, XM_047419993.1:c.1338C>T, XM_047419995.1:c.1332C>T, XM_047419991.1:c.1356C>T, XM_047419996.1:c.1317C>T, XM_047419992.1:c.1341C>T, XM_047419997.1:c.1314C>T, XM_047420005.1:c.1029C>T, XM_047419998.1:c.1248C>T, XM_047419999.1:c.1356C>T, XM_047420001.1:c.1341C>T, XM_047420002.1:c.1197C>T, XM_047420006.1:c.1029C>T, XM_047420004.1:c.1224C>T, XM_047420007.1:c.1341C>T

    2.

    rs1488978716 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      7:148836935 (GRCh38)
      7:148534027 (GRCh37)
      Canonical SPDI:
      NC_000007.14:148836934:C:T
      Gene:
      EZH2 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
      HGVS:

      3.

      rs1488870104 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        7:148829737 (GRCh38)
        7:148526829 (GRCh37)
        Canonical SPDI:
        NC_000007.14:148829736:C:G,NC_000007.14:148829736:C:T
        Gene:
        EZH2 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by cluster
        HGVS:
        NC_000007.14:g.148829737C>G, NC_000007.14:g.148829737C>T, NC_000007.13:g.148526829C>G, NC_000007.13:g.148526829C>T, NG_032043.1:g.59613G>C, NG_032043.1:g.59613G>A, NM_004456.5:c.475G>C, NM_004456.5:c.475G>A, NM_004456.4:c.475G>C, NM_004456.4:c.475G>A, NM_152998.3:c.358G>C, NM_152998.3:c.358G>A, NM_152998.2:c.358G>C, NM_152998.2:c.358G>A, NM_001203249.2:c.448G>C, NM_001203249.2:c.448G>A, NM_001203249.1:c.448G>C, NM_001203249.1:c.448G>A, NM_001203247.2:c.475G>C, NM_001203247.2:c.475G>A, NM_001203247.1:c.475G>C, NM_001203247.1:c.475G>A, NM_001203248.2:c.448G>C, NM_001203248.2:c.448G>A, NM_001203248.1:c.448G>C, NM_001203248.1:c.448G>A, XM_005249963.5:c.472G>C, XM_005249963.5:c.472G>A, XM_005249963.4:c.472G>C, XM_005249963.4:c.472G>A, XM_005249963.3:c.472G>C, XM_005249963.3:c.472G>A, XM_005249963.2:c.472G>C, XM_005249963.2:c.472G>A, XM_005249963.1:c.472G>C, XM_005249963.1:c.472G>A, XM_005249964.5:c.472G>C, XM_005249964.5:c.472G>A, XM_005249964.4:c.472G>C, XM_005249964.4:c.472G>A, XM_005249964.3:c.472G>C, XM_005249964.3:c.472G>A, XM_005249964.2:c.472G>C, XM_005249964.2:c.472G>A, XM_005249964.1:c.472G>C, XM_005249964.1:c.472G>A, XM_005249962.5:c.499G>C, XM_005249962.5:c.499G>A, XM_005249962.4:c.499G>C, XM_005249962.4:c.499G>A, XM_005249962.3:c.499G>C, XM_005249962.3:c.499G>A, XM_005249962.2:c.499G>C, XM_005249962.2:c.499G>A, XM_005249962.1:c.499G>C, XM_005249962.1:c.499G>A, XM_011515899.4:c.499G>C, XM_011515899.4:c.499G>A, XM_011515899.3:c.499G>C, XM_011515899.3:c.499G>A, XM_011515899.2:c.499G>C, XM_011515899.2:c.499G>A, XM_011515899.1:c.499G>C, XM_011515899.1:c.499G>A, XM_011515901.4:c.499G>C, XM_011515901.4:c.499G>A, XM_011515901.3:c.499G>C, XM_011515901.3:c.499G>A, XM_011515901.2:c.499G>C, XM_011515901.2:c.499G>A, XM_011515901.1:c.499G>C, XM_011515901.1:c.499G>A, XM_011515887.4:c.448G>C, XM_011515887.4:c.448G>A, XM_011515887.3:c.448G>C, XM_011515887.3:c.448G>A, XM_011515887.2:c.448G>C, XM_011515887.2:c.448G>A, XM_011515887.1:c.448G>C, XM_011515887.1:c.448G>A, XM_017011817.3:c.499G>C, XM_017011817.3:c.499G>A, XM_017011817.2:c.499G>C, XM_017011817.2:c.499G>A, XM_017011817.1:c.499G>C, XM_017011817.1:c.499G>A, XM_011515885.3:c.472G>C, XM_011515885.3:c.472G>A, XM_011515885.2:c.472G>C, XM_011515885.2:c.472G>A, XM_011515885.1:c.472G>C, XM_011515885.1:c.472G>A, XM_011515890.3:c.382G>C, XM_011515890.3:c.382G>A, XM_011515890.2:c.382G>C, XM_011515890.2:c.382G>A, XM_011515890.1:c.382G>C, XM_011515890.1:c.382G>A, XM_011515892.3:c.499G>C, XM_011515892.3:c.499G>A, XM_011515892.2:c.499G>C, XM_011515892.2:c.499G>A, XM_011515892.1:c.499G>C, XM_011515892.1:c.499G>A, XM_011515893.3:c.382G>C, XM_011515893.3:c.382G>A, XM_011515893.2:c.382G>C, XM_011515893.2:c.382G>A, XM_011515893.1:c.382G>C, XM_011515893.1:c.382G>A, XM_011515895.3:c.355G>C, XM_011515895.3:c.355G>A, XM_011515895.2:c.355G>C, XM_011515895.2:c.355G>A, XM_011515895.1:c.355G>C, XM_011515895.1:c.355G>A, XM_011515896.3:c.382G>C, XM_011515896.3:c.382G>A, XM_011515896.2:c.382G>C, XM_011515896.2:c.382G>A, XM_011515896.1:c.382G>C, XM_011515896.1:c.382G>A, XM_011515883.3:c.499G>C, XM_011515883.3:c.499G>A, XM_011515883.2:c.499G>C, XM_011515883.2:c.499G>A, XM_011515883.1:c.499G>C, XM_011515883.1:c.499G>A, XM_011515889.3:c.409G>C, XM_011515889.3:c.409G>A, XM_011515889.2:c.409G>C, XM_011515889.2:c.409G>A, XM_011515889.1:c.409G>C, XM_011515889.1:c.409G>A, XM_011515894.3:c.358G>C, XM_011515894.3:c.358G>A, XM_011515894.2:c.358G>C, XM_011515894.2:c.358G>A, XM_011515894.1:c.358G>C, XM_011515894.1:c.358G>A, XM_017011820.3:c.331G>C, XM_017011820.3:c.331G>A, XM_017011820.2:c.331G>C, XM_017011820.2:c.331G>A, XM_017011820.1:c.331G>C, XM_017011820.1:c.331G>A, XM_017011819.2:c.499G>C, XM_017011819.2:c.499G>A, XM_017011819.1:c.499G>C, XM_017011819.1:c.499G>A, XM_047420000.1:c.355G>C, XM_047420000.1:c.355G>A, XM_047420008.1:c.499G>C, XM_047420008.1:c.499G>A, XM_047420009.1:c.499G>C, XM_047420009.1:c.499G>A, XM_047419989.1:c.499G>C, XM_047419989.1:c.499G>A, XM_047419994.1:c.472G>C, XM_047419994.1:c.472G>A, XM_047419990.1:c.499G>C, XM_047419990.1:c.499G>A, XM_047419993.1:c.472G>C, XM_047419993.1:c.472G>A, XM_047419995.1:c.451G>C, XM_047419995.1:c.451G>A, XM_047419991.1:c.475G>C, XM_047419991.1:c.475G>A, XM_047419996.1:c.451G>C, XM_047419996.1:c.451G>A, XM_047419992.1:c.475G>C, XM_047419992.1:c.475G>A, XM_047419997.1:c.448G>C, XM_047419997.1:c.448G>A, XM_047420005.1:c.148G>C, XM_047420005.1:c.148G>A, XM_047419998.1:c.382G>C, XM_047419998.1:c.382G>A, XM_047419999.1:c.475G>C, XM_047419999.1:c.475G>A, XM_047420001.1:c.475G>C, XM_047420001.1:c.475G>A, XM_047420002.1:c.331G>C, XM_047420002.1:c.331G>A, XM_047420006.1:c.148G>C, XM_047420006.1:c.148G>A, XM_047420004.1:c.358G>C, XM_047420004.1:c.358G>A, XM_047420007.1:c.475G>C, XM_047420007.1:c.475G>A, NP_004447.2:p.Gly159Arg, NP_004447.2:p.Gly159Arg, NP_694543.1:p.Gly120Arg, NP_694543.1:p.Gly120Arg, NP_001190178.1:p.Gly150Arg, NP_001190178.1:p.Gly150Arg, NP_001190176.1:p.Gly159Arg, NP_001190176.1:p.Gly159Arg, NP_001190177.1:p.Gly150Arg, NP_001190177.1:p.Gly150Arg, XP_005250020.1:p.Gly158Arg, XP_005250020.1:p.Gly158Arg, XP_005250021.1:p.Gly158Arg, XP_005250021.1:p.Gly158Arg, XP_005250019.1:p.Gly167Arg, XP_005250019.1:p.Gly167Arg, XP_011514201.1:p.Gly167Arg, XP_011514201.1:p.Gly167Arg, XP_011514203.1:p.Gly167Arg, XP_011514203.1:p.Gly167Arg, XP_011514189.1:p.Gly150Arg, XP_011514189.1:p.Gly150Arg, XP_016867306.1:p.Gly167Arg, XP_016867306.1:p.Gly167Arg, XP_011514187.1:p.Gly158Arg, XP_011514187.1:p.Gly158Arg, XP_011514192.1:p.Gly128Arg, XP_011514192.1:p.Gly128Arg, XP_011514194.1:p.Gly167Arg, XP_011514194.1:p.Gly167Arg, XP_011514195.1:p.Gly128Arg, XP_011514195.1:p.Gly128Arg, XP_011514197.1:p.Gly119Arg, XP_011514197.1:p.Gly119Arg, XP_011514198.1:p.Gly128Arg, XP_011514198.1:p.Gly128Arg, XP_011514185.1:p.Gly167Arg, XP_011514185.1:p.Gly167Arg, XP_011514191.1:p.Gly137Arg, XP_011514191.1:p.Gly137Arg, XP_011514196.1:p.Gly120Arg, XP_011514196.1:p.Gly120Arg, XP_016867309.1:p.Gly111Arg, XP_016867309.1:p.Gly111Arg, XP_016867308.1:p.Gly167Arg, XP_016867308.1:p.Gly167Arg, XP_047275956.1:p.Gly119Arg, XP_047275956.1:p.Gly119Arg, XP_047275964.1:p.Gly167Arg, XP_047275964.1:p.Gly167Arg, XP_047275965.1:p.Gly167Arg, XP_047275965.1:p.Gly167Arg, XP_047275945.1:p.Gly167Arg, XP_047275945.1:p.Gly167Arg, XP_047275950.1:p.Gly158Arg, XP_047275950.1:p.Gly158Arg, XP_047275946.1:p.Gly167Arg, XP_047275946.1:p.Gly167Arg, XP_047275949.1:p.Gly158Arg, XP_047275949.1:p.Gly158Arg, XP_047275951.1:p.Gly151Arg, XP_047275951.1:p.Gly151Arg, XP_047275947.1:p.Gly159Arg, XP_047275947.1:p.Gly159Arg, XP_047275952.1:p.Gly151Arg, XP_047275952.1:p.Gly151Arg, XP_047275948.1:p.Gly159Arg, XP_047275948.1:p.Gly159Arg, XP_047275953.1:p.Gly150Arg, XP_047275953.1:p.Gly150Arg, XP_047275961.1:p.Gly50Arg, XP_047275961.1:p.Gly50Arg, XP_047275954.1:p.Gly128Arg, XP_047275954.1:p.Gly128Arg, XP_047275955.1:p.Gly159Arg, XP_047275955.1:p.Gly159Arg, XP_047275957.1:p.Gly159Arg, XP_047275957.1:p.Gly159Arg, XP_047275958.1:p.Gly111Arg, XP_047275958.1:p.Gly111Arg, XP_047275962.1:p.Gly50Arg, XP_047275962.1:p.Gly50Arg, XP_047275960.1:p.Gly120Arg, XP_047275960.1:p.Gly120Arg, XP_047275963.1:p.Gly159Arg, XP_047275963.1:p.Gly159Arg

        4.

        rs1487997628 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          7:148829759 (GRCh38)
          7:148526851 (GRCh37)
          Canonical SPDI:
          NC_000007.14:148829758:T:C
          Gene:
          EZH2 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000007.14:g.148829759T>C, NC_000007.13:g.148526851T>C, NG_032043.1:g.59591A>G, NM_004456.5:c.453A>G, NM_004456.4:c.453A>G, NM_152998.3:c.336A>G, NM_152998.2:c.336A>G, NM_001203249.2:c.426A>G, NM_001203249.1:c.426A>G, NM_001203247.2:c.453A>G, NM_001203247.1:c.453A>G, NM_001203248.2:c.426A>G, NM_001203248.1:c.426A>G, XM_005249963.5:c.450A>G, XM_005249963.4:c.450A>G, XM_005249963.3:c.450A>G, XM_005249963.2:c.450A>G, XM_005249963.1:c.450A>G, XM_005249964.5:c.450A>G, XM_005249964.4:c.450A>G, XM_005249964.3:c.450A>G, XM_005249964.2:c.450A>G, XM_005249964.1:c.450A>G, XM_005249962.5:c.477A>G, XM_005249962.4:c.477A>G, XM_005249962.3:c.477A>G, XM_005249962.2:c.477A>G, XM_005249962.1:c.477A>G, XM_011515899.4:c.477A>G, XM_011515899.3:c.477A>G, XM_011515899.2:c.477A>G, XM_011515899.1:c.477A>G, XM_011515901.4:c.477A>G, XM_011515901.3:c.477A>G, XM_011515901.2:c.477A>G, XM_011515901.1:c.477A>G, XM_011515887.4:c.426A>G, XM_011515887.3:c.426A>G, XM_011515887.2:c.426A>G, XM_011515887.1:c.426A>G, XM_017011817.3:c.477A>G, XM_017011817.2:c.477A>G, XM_017011817.1:c.477A>G, XM_011515885.3:c.450A>G, XM_011515885.2:c.450A>G, XM_011515885.1:c.450A>G, XM_011515890.3:c.360A>G, XM_011515890.2:c.360A>G, XM_011515890.1:c.360A>G, XM_011515892.3:c.477A>G, XM_011515892.2:c.477A>G, XM_011515892.1:c.477A>G, XM_011515893.3:c.360A>G, XM_011515893.2:c.360A>G, XM_011515893.1:c.360A>G, XM_011515895.3:c.333A>G, XM_011515895.2:c.333A>G, XM_011515895.1:c.333A>G, XM_011515896.3:c.360A>G, XM_011515896.2:c.360A>G, XM_011515896.1:c.360A>G, XM_011515883.3:c.477A>G, XM_011515883.2:c.477A>G, XM_011515883.1:c.477A>G, XM_011515889.3:c.387A>G, XM_011515889.2:c.387A>G, XM_011515889.1:c.387A>G, XM_011515894.3:c.336A>G, XM_011515894.2:c.336A>G, XM_011515894.1:c.336A>G, XM_017011820.3:c.309A>G, XM_017011820.2:c.309A>G, XM_017011820.1:c.309A>G, XM_017011819.2:c.477A>G, XM_017011819.1:c.477A>G, XM_047420000.1:c.333A>G, XM_047420008.1:c.477A>G, XM_047420009.1:c.477A>G, XM_047419989.1:c.477A>G, XM_047419994.1:c.450A>G, XM_047419990.1:c.477A>G, XM_047419993.1:c.450A>G, XM_047419995.1:c.429A>G, XM_047419991.1:c.453A>G, XM_047419996.1:c.429A>G, XM_047419992.1:c.453A>G, XM_047419997.1:c.426A>G, XM_047420005.1:c.126A>G, XM_047419998.1:c.360A>G, XM_047419999.1:c.453A>G, XM_047420001.1:c.453A>G, XM_047420002.1:c.309A>G, XM_047420006.1:c.126A>G, XM_047420004.1:c.336A>G, XM_047420007.1:c.453A>G

          5.

          rs1484617559 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            7:148836923 (GRCh38)
            7:148534015 (GRCh37)
            Canonical SPDI:
            NC_000007.14:148836922:T:C
            Gene:
            EZH2 (Varview)
            Functional Consequence:
            missense_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            C=0.00003/4 (GnomAD_exomes)
            HGVS:

            6.

            rs1484428746 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              7:148829805 (GRCh38)
              7:148526897 (GRCh37)
              Canonical SPDI:
              NC_000007.14:148829804:T:A
              Gene:
              EZH2 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:
              NC_000007.14:g.148829805T>A, NC_000007.13:g.148526897T>A, NG_032043.1:g.59545A>T, NM_004456.5:c.407A>T, NM_004456.4:c.407A>T, NM_152998.3:c.290A>T, NM_152998.2:c.290A>T, NM_001203249.2:c.380A>T, NM_001203249.1:c.380A>T, NM_001203247.2:c.407A>T, NM_001203247.1:c.407A>T, NM_001203248.2:c.380A>T, NM_001203248.1:c.380A>T, XM_005249963.5:c.404A>T, XM_005249963.4:c.404A>T, XM_005249963.3:c.404A>T, XM_005249963.2:c.404A>T, XM_005249963.1:c.404A>T, XM_005249964.5:c.404A>T, XM_005249964.4:c.404A>T, XM_005249964.3:c.404A>T, XM_005249964.2:c.404A>T, XM_005249964.1:c.404A>T, XM_005249962.5:c.431A>T, XM_005249962.4:c.431A>T, XM_005249962.3:c.431A>T, XM_005249962.2:c.431A>T, XM_005249962.1:c.431A>T, XM_011515899.4:c.431A>T, XM_011515899.3:c.431A>T, XM_011515899.2:c.431A>T, XM_011515899.1:c.431A>T, XM_011515901.4:c.431A>T, XM_011515901.3:c.431A>T, XM_011515901.2:c.431A>T, XM_011515901.1:c.431A>T, XM_011515887.4:c.380A>T, XM_011515887.3:c.380A>T, XM_011515887.2:c.380A>T, XM_011515887.1:c.380A>T, XM_017011817.3:c.431A>T, XM_017011817.2:c.431A>T, XM_017011817.1:c.431A>T, XM_011515885.3:c.404A>T, XM_011515885.2:c.404A>T, XM_011515885.1:c.404A>T, XM_011515890.3:c.314A>T, XM_011515890.2:c.314A>T, XM_011515890.1:c.314A>T, XM_011515892.3:c.431A>T, XM_011515892.2:c.431A>T, XM_011515892.1:c.431A>T, XM_011515893.3:c.314A>T, XM_011515893.2:c.314A>T, XM_011515893.1:c.314A>T, XM_011515895.3:c.287A>T, XM_011515895.2:c.287A>T, XM_011515895.1:c.287A>T, XM_011515896.3:c.314A>T, XM_011515896.2:c.314A>T, XM_011515896.1:c.314A>T, XM_011515883.3:c.431A>T, XM_011515883.2:c.431A>T, XM_011515883.1:c.431A>T, XM_011515889.3:c.341A>T, XM_011515889.2:c.341A>T, XM_011515889.1:c.341A>T, XM_011515894.3:c.290A>T, XM_011515894.2:c.290A>T, XM_011515894.1:c.290A>T, XM_017011820.3:c.263A>T, XM_017011820.2:c.263A>T, XM_017011820.1:c.263A>T, XM_017011819.2:c.431A>T, XM_017011819.1:c.431A>T, XM_047420000.1:c.287A>T, XM_047420008.1:c.431A>T, XM_047420009.1:c.431A>T, XM_047419989.1:c.431A>T, XM_047419994.1:c.404A>T, XM_047419990.1:c.431A>T, XM_047419993.1:c.404A>T, XM_047419995.1:c.383A>T, XM_047419991.1:c.407A>T, XM_047419996.1:c.383A>T, XM_047419992.1:c.407A>T, XM_047419997.1:c.380A>T, XM_047420005.1:c.80A>T, XM_047419998.1:c.314A>T, XM_047419999.1:c.407A>T, XM_047420001.1:c.407A>T, XM_047420002.1:c.263A>T, XM_047420006.1:c.80A>T, XM_047420004.1:c.290A>T, XM_047420007.1:c.407A>T, NP_004447.2:p.Asp136Val, NP_694543.1:p.Asp97Val, NP_001190178.1:p.Asp127Val, NP_001190176.1:p.Asp136Val, NP_001190177.1:p.Asp127Val, XP_005250020.1:p.Asp135Val, XP_005250021.1:p.Asp135Val, XP_005250019.1:p.Asp144Val, XP_011514201.1:p.Asp144Val, XP_011514203.1:p.Asp144Val, XP_011514189.1:p.Asp127Val, XP_016867306.1:p.Asp144Val, XP_011514187.1:p.Asp135Val, XP_011514192.1:p.Asp105Val, XP_011514194.1:p.Asp144Val, XP_011514195.1:p.Asp105Val, XP_011514197.1:p.Asp96Val, XP_011514198.1:p.Asp105Val, XP_011514185.1:p.Asp144Val, XP_011514191.1:p.Asp114Val, XP_011514196.1:p.Asp97Val, XP_016867309.1:p.Asp88Val, XP_016867308.1:p.Asp144Val, XP_047275956.1:p.Asp96Val, XP_047275964.1:p.Asp144Val, XP_047275965.1:p.Asp144Val, XP_047275945.1:p.Asp144Val, XP_047275950.1:p.Asp135Val, XP_047275946.1:p.Asp144Val, XP_047275949.1:p.Asp135Val, XP_047275951.1:p.Asp128Val, XP_047275947.1:p.Asp136Val, XP_047275952.1:p.Asp128Val, XP_047275948.1:p.Asp136Val, XP_047275953.1:p.Asp127Val, XP_047275961.1:p.Asp27Val, XP_047275954.1:p.Asp105Val, XP_047275955.1:p.Asp136Val, XP_047275957.1:p.Asp136Val, XP_047275958.1:p.Asp88Val, XP_047275962.1:p.Asp27Val, XP_047275960.1:p.Asp97Val, XP_047275963.1:p.Asp136Val

              7.

              rs1483639186 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                7:148813984 (GRCh38)
                7:148511076 (GRCh37)
                Canonical SPDI:
                NC_000007.14:148813983:C:T
                Gene:
                EZH2 (Varview)
                Functional Consequence:
                downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000008/2 (TOPMED)
                HGVS:
                NC_000007.14:g.148813984C>T, NC_000007.13:g.148511076C>T, NG_032043.1:g.75366G>A, NM_004456.5:c.1826G>A, NM_004456.4:c.1826G>A, NM_152998.3:c.1694G>A, NM_152998.2:c.1694G>A, NM_001203249.2:c.1658G>A, NM_001203249.1:c.1658G>A, NM_001203247.2:c.1811G>A, NM_001203247.1:c.1811G>A, NM_001203248.2:c.1784G>A, NM_001203248.1:c.1784G>A, XM_005249963.5:c.1808G>A, XM_005249963.4:c.1808G>A, XM_005249963.3:c.1808G>A, XM_005249963.2:c.1808G>A, XM_005249963.1:c.1808G>A, XM_005249964.5:c.1682G>A, XM_005249964.4:c.1682G>A, XM_005249964.3:c.1682G>A, XM_005249964.2:c.1682G>A, XM_005249964.1:c.1682G>A, XM_005249962.5:c.1835G>A, XM_005249962.4:c.1835G>A, XM_005249962.3:c.1835G>A, XM_005249962.2:c.1835G>A, XM_005249962.1:c.1835G>A, XM_011515887.4:c.1799G>A, XM_011515887.3:c.1799G>A, XM_011515887.2:c.1799G>A, XM_011515887.1:c.1799G>A, XM_017011817.3:c.1850G>A, XM_017011817.2:c.1850G>A, XM_017011817.1:c.1850G>A, XM_011515885.3:c.1823G>A, XM_011515885.2:c.1823G>A, XM_011515885.1:c.1823G>A, XM_011515890.3:c.1733G>A, XM_011515890.2:c.1733G>A, XM_011515890.1:c.1733G>A, XM_011515892.3:c.1724G>A, XM_011515892.2:c.1724G>A, XM_011515892.1:c.1724G>A, XM_011515893.3:c.1718G>A, XM_011515893.2:c.1718G>A, XM_011515893.1:c.1718G>A, XM_011515895.3:c.1706G>A, XM_011515895.2:c.1706G>A, XM_011515895.1:c.1706G>A, XM_011515896.3:c.1592G>A, XM_011515896.2:c.1592G>A, XM_011515896.1:c.1592G>A, XM_011515883.3:c.1850G>A, XM_011515883.2:c.1850G>A, XM_011515883.1:c.1850G>A, XM_011515889.3:c.1760G>A, XM_011515889.2:c.1760G>A, XM_011515889.1:c.1760G>A, XM_011515894.3:c.1709G>A, XM_011515894.2:c.1709G>A, XM_011515894.1:c.1709G>A, XM_017011820.3:c.1682G>A, XM_017011820.2:c.1682G>A, XM_017011820.1:c.1682G>A, XM_017011819.2:c.1709G>A, XM_017011819.1:c.1709G>A, XM_047420000.1:c.1691G>A, XM_047419989.1:c.1850G>A, XM_047419994.1:c.1808G>A, XM_047419990.1:c.1835G>A, XM_047419993.1:c.1808G>A, XM_047419995.1:c.1802G>A, XM_047419991.1:c.1826G>A, XM_047419996.1:c.1787G>A, XM_047419992.1:c.1811G>A, XM_047419997.1:c.1784G>A, XM_047420005.1:c.1499G>A, XM_047419998.1:c.1718G>A, XM_047419999.1:c.1700G>A, XM_047420001.1:c.1685G>A, XM_047420002.1:c.1667G>A, XM_047420006.1:c.1499G>A, XM_047420004.1:c.1568G>A, NP_004447.2:p.Cys609Tyr, NP_694543.1:p.Cys565Tyr, NP_001190178.1:p.Cys553Tyr, NP_001190176.1:p.Cys604Tyr, NP_001190177.1:p.Cys595Tyr, XP_005250020.1:p.Cys603Tyr, XP_005250021.1:p.Cys561Tyr, XP_005250019.1:p.Cys612Tyr, XP_011514189.1:p.Cys600Tyr, XP_016867306.1:p.Cys617Tyr, XP_011514187.1:p.Cys608Tyr, XP_011514192.1:p.Cys578Tyr, XP_011514194.1:p.Cys575Tyr, XP_011514195.1:p.Cys573Tyr, XP_011514197.1:p.Cys569Tyr, XP_011514198.1:p.Cys531Tyr, XP_011514185.1:p.Cys617Tyr, XP_011514191.1:p.Cys587Tyr, XP_011514196.1:p.Cys570Tyr, XP_016867309.1:p.Cys561Tyr, XP_016867308.1:p.Cys570Tyr, XP_047275956.1:p.Cys564Tyr, XP_047275945.1:p.Cys617Tyr, XP_047275950.1:p.Cys603Tyr, XP_047275946.1:p.Cys612Tyr, XP_047275949.1:p.Cys603Tyr, XP_047275951.1:p.Cys601Tyr, XP_047275947.1:p.Cys609Tyr, XP_047275952.1:p.Cys596Tyr, XP_047275948.1:p.Cys604Tyr, XP_047275953.1:p.Cys595Tyr, XP_047275961.1:p.Cys500Tyr, XP_047275954.1:p.Cys573Tyr, XP_047275955.1:p.Cys567Tyr, XP_047275957.1:p.Cys562Tyr, XP_047275958.1:p.Cys556Tyr, XP_047275962.1:p.Cys500Tyr, XP_047275960.1:p.Cys523Tyr

                8.

                rs1481097067 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  7:148817347 (GRCh38)
                  7:148514439 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:148817346:T:C
                  Gene:
                  EZH2 (Varview)
                  Functional Consequence:
                  intron_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000014/2 (GnomAD)
                  HGVS:
                  NC_000007.14:g.148817347T>C, NC_000007.13:g.148514439T>C, NG_032043.1:g.72003A>G, NM_004456.5:c.1285A>G, NM_004456.4:c.1285A>G, NM_152998.3:c.1153A>G, NM_152998.2:c.1153A>G, NM_001203249.2:c.1243A>G, NM_001203249.1:c.1243A>G, NM_001203247.2:c.1270A>G, NM_001203247.1:c.1270A>G, NM_001203248.2:c.1243A>G, NM_001203248.1:c.1243A>G, XM_005249963.5:c.1267A>G, XM_005249963.4:c.1267A>G, XM_005249963.3:c.1267A>G, XM_005249963.2:c.1267A>G, XM_005249963.1:c.1267A>G, XM_005249964.5:c.1267A>G, XM_005249964.4:c.1267A>G, XM_005249964.3:c.1267A>G, XM_005249964.2:c.1267A>G, XM_005249964.1:c.1267A>G, XM_005249962.5:c.1294A>G, XM_005249962.4:c.1294A>G, XM_005249962.3:c.1294A>G, XM_005249962.2:c.1294A>G, XM_005249962.1:c.1294A>G, XM_011515899.4:c.1309A>G, XM_011515899.3:c.1309A>G, XM_011515899.2:c.1309A>G, XM_011515899.1:c.1309A>G, XM_011515887.4:c.1258A>G, XM_011515887.3:c.1258A>G, XM_011515887.2:c.1258A>G, XM_011515887.1:c.1258A>G, XM_017011817.3:c.1309A>G, XM_017011817.2:c.1309A>G, XM_017011817.1:c.1309A>G, XM_011515885.3:c.1282A>G, XM_011515885.2:c.1282A>G, XM_011515885.1:c.1282A>G, XM_011515890.3:c.1192A>G, XM_011515890.2:c.1192A>G, XM_011515890.1:c.1192A>G, XM_011515892.3:c.1309A>G, XM_011515892.2:c.1309A>G, XM_011515892.1:c.1309A>G, XM_011515893.3:c.1177A>G, XM_011515893.2:c.1177A>G, XM_011515893.1:c.1177A>G, XM_011515895.3:c.1165A>G, XM_011515895.2:c.1165A>G, XM_011515895.1:c.1165A>G, XM_011515896.3:c.1177A>G, XM_011515896.2:c.1177A>G, XM_011515896.1:c.1177A>G, XM_011515883.3:c.1309A>G, XM_011515883.2:c.1309A>G, XM_011515883.1:c.1309A>G, XM_011515889.3:c.1219A>G, XM_011515889.2:c.1219A>G, XM_011515889.1:c.1219A>G, XM_011515894.3:c.1168A>G, XM_011515894.2:c.1168A>G, XM_011515894.1:c.1168A>G, XM_017011820.3:c.1141A>G, XM_017011820.2:c.1141A>G, XM_017011820.1:c.1141A>G, XM_017011819.2:c.1294A>G, XM_017011819.1:c.1294A>G, XM_047420000.1:c.1150A>G, XM_047419989.1:c.1309A>G, XM_047419994.1:c.1267A>G, XM_047419990.1:c.1294A>G, XM_047419993.1:c.1267A>G, XM_047419995.1:c.1261A>G, XM_047419991.1:c.1285A>G, XM_047419996.1:c.1246A>G, XM_047419992.1:c.1270A>G, XM_047419997.1:c.1243A>G, XM_047420005.1:c.958A>G, XM_047419998.1:c.1177A>G, XM_047419999.1:c.1285A>G, XM_047420001.1:c.1270A>G, XM_047420002.1:c.1126A>G, XM_047420006.1:c.958A>G, XM_047420004.1:c.1153A>G, XM_047420007.1:c.1270A>G, NP_004447.2:p.Ile429Val, NP_694543.1:p.Ile385Val, NP_001190178.1:p.Ile415Val, NP_001190176.1:p.Ile424Val, NP_001190177.1:p.Ile415Val, XP_005250020.1:p.Ile423Val, XP_005250021.1:p.Ile423Val, XP_005250019.1:p.Ile432Val, XP_011514201.1:p.Ile437Val, XP_011514189.1:p.Ile420Val, XP_016867306.1:p.Ile437Val, XP_011514187.1:p.Ile428Val, XP_011514192.1:p.Ile398Val, XP_011514194.1:p.Ile437Val, XP_011514195.1:p.Ile393Val, XP_011514197.1:p.Ile389Val, XP_011514198.1:p.Ile393Val, XP_011514185.1:p.Ile437Val, XP_011514191.1:p.Ile407Val, XP_011514196.1:p.Ile390Val, XP_016867309.1:p.Ile381Val, XP_016867308.1:p.Ile432Val, XP_047275956.1:p.Ile384Val, XP_047275945.1:p.Ile437Val, XP_047275950.1:p.Ile423Val, XP_047275946.1:p.Ile432Val, XP_047275949.1:p.Ile423Val, XP_047275951.1:p.Ile421Val, XP_047275947.1:p.Ile429Val, XP_047275952.1:p.Ile416Val, XP_047275948.1:p.Ile424Val, XP_047275953.1:p.Ile415Val, XP_047275961.1:p.Ile320Val, XP_047275954.1:p.Ile393Val, XP_047275955.1:p.Ile429Val, XP_047275957.1:p.Ile424Val, XP_047275958.1:p.Ile376Val, XP_047275962.1:p.Ile320Val, XP_047275960.1:p.Ile385Val, XP_047275963.1:p.Ile424Val

                  9.

                  rs1480552835 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    7:148826596 (GRCh38)
                    7:148523688 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:148826595:T:C
                    Gene:
                    EZH2 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000007.14:g.148826596T>C, NC_000007.13:g.148523688T>C, NG_032043.1:g.62754A>G, NM_004456.5:c.765A>G, NM_004456.4:c.765A>G, NM_152998.3:c.648A>G, NM_152998.2:c.648A>G, NM_001203249.2:c.738A>G, NM_001203249.1:c.738A>G, NM_001203247.2:c.765A>G, NM_001203247.1:c.765A>G, NM_001203248.2:c.738A>G, NM_001203248.1:c.738A>G, XM_005249963.5:c.762A>G, XM_005249963.4:c.762A>G, XM_005249963.3:c.762A>G, XM_005249963.2:c.762A>G, XM_005249963.1:c.762A>G, XM_005249964.5:c.762A>G, XM_005249964.4:c.762A>G, XM_005249964.3:c.762A>G, XM_005249964.2:c.762A>G, XM_005249964.1:c.762A>G, XM_005249962.5:c.789A>G, XM_005249962.4:c.789A>G, XM_005249962.3:c.789A>G, XM_005249962.2:c.789A>G, XM_005249962.1:c.789A>G, XM_011515899.4:c.789A>G, XM_011515899.3:c.789A>G, XM_011515899.2:c.789A>G, XM_011515899.1:c.789A>G, XM_011515901.4:c.789A>G, XM_011515901.3:c.789A>G, XM_011515901.2:c.789A>G, XM_011515901.1:c.789A>G, XM_011515887.4:c.738A>G, XM_011515887.3:c.738A>G, XM_011515887.2:c.738A>G, XM_011515887.1:c.738A>G, XM_017011817.3:c.789A>G, XM_017011817.2:c.789A>G, XM_017011817.1:c.789A>G, XM_011515885.3:c.762A>G, XM_011515885.2:c.762A>G, XM_011515885.1:c.762A>G, XM_011515890.3:c.672A>G, XM_011515890.2:c.672A>G, XM_011515890.1:c.672A>G, XM_011515892.3:c.789A>G, XM_011515892.2:c.789A>G, XM_011515892.1:c.789A>G, XM_011515893.3:c.672A>G, XM_011515893.2:c.672A>G, XM_011515893.1:c.672A>G, XM_011515895.3:c.645A>G, XM_011515895.2:c.645A>G, XM_011515895.1:c.645A>G, XM_011515896.3:c.672A>G, XM_011515896.2:c.672A>G, XM_011515896.1:c.672A>G, XM_011515883.3:c.789A>G, XM_011515883.2:c.789A>G, XM_011515883.1:c.789A>G, XM_011515889.3:c.699A>G, XM_011515889.2:c.699A>G, XM_011515889.1:c.699A>G, XM_011515894.3:c.648A>G, XM_011515894.2:c.648A>G, XM_011515894.1:c.648A>G, XM_017011820.3:c.621A>G, XM_017011820.2:c.621A>G, XM_017011820.1:c.621A>G, XM_017011819.2:c.789A>G, XM_017011819.1:c.789A>G, XM_047420000.1:c.645A>G, XM_047420008.1:c.789A>G, XM_047420009.1:c.789A>G, XM_047419989.1:c.789A>G, XM_047419994.1:c.762A>G, XM_047419990.1:c.789A>G, XM_047419993.1:c.762A>G, XM_047419995.1:c.741A>G, XM_047419991.1:c.765A>G, XM_047419996.1:c.741A>G, XM_047419992.1:c.765A>G, XM_047419997.1:c.738A>G, XM_047420005.1:c.438A>G, XM_047419998.1:c.672A>G, XM_047419999.1:c.765A>G, XM_047420001.1:c.765A>G, XM_047420002.1:c.621A>G, XM_047420006.1:c.438A>G, XM_047420004.1:c.648A>G, XM_047420007.1:c.765A>G

                    10.

                    rs1480044679 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      7:148809318 (GRCh38)
                      7:148506410 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:148809317:T:C
                      Gene:
                      EZH2 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000007.14:g.148809318T>C, NC_000007.13:g.148506410T>C, NG_032043.1:g.80032A>G, NM_004456.5:c.2102A>G, NM_004456.4:c.2102A>G, NM_152998.3:c.1970A>G, NM_152998.2:c.1970A>G, NM_001203249.2:c.1934A>G, NM_001203249.1:c.1934A>G, NM_001203247.2:c.2087A>G, NM_001203247.1:c.2087A>G, NM_001203248.2:c.2060A>G, NM_001203248.1:c.2060A>G, XM_005249963.5:c.2084A>G, XM_005249963.4:c.2084A>G, XM_005249963.3:c.2084A>G, XM_005249963.2:c.2084A>G, XM_005249963.1:c.2084A>G, XM_005249964.5:c.1958A>G, XM_005249964.4:c.1958A>G, XM_005249964.3:c.1958A>G, XM_005249964.2:c.1958A>G, XM_005249964.1:c.1958A>G, XM_005249962.5:c.2111A>G, XM_005249962.4:c.2111A>G, XM_005249962.3:c.2111A>G, XM_005249962.2:c.2111A>G, XM_005249962.1:c.2111A>G, XM_011515887.4:c.2075A>G, XM_011515887.3:c.2075A>G, XM_011515887.2:c.2075A>G, XM_011515887.1:c.2075A>G, XM_017011817.3:c.2126A>G, XM_017011817.2:c.2126A>G, XM_017011817.1:c.2126A>G, XM_011515885.3:c.2099A>G, XM_011515885.2:c.2099A>G, XM_011515885.1:c.2099A>G, XM_011515890.3:c.2009A>G, XM_011515890.2:c.2009A>G, XM_011515890.1:c.2009A>G, XM_011515892.3:c.2000A>G, XM_011515892.2:c.2000A>G, XM_011515892.1:c.2000A>G, XM_011515893.3:c.1994A>G, XM_011515893.2:c.1994A>G, XM_011515893.1:c.1994A>G, XM_011515895.3:c.1982A>G, XM_011515895.2:c.1982A>G, XM_011515895.1:c.1982A>G, XM_011515896.3:c.1868A>G, XM_011515896.2:c.1868A>G, XM_011515896.1:c.1868A>G, XM_011515883.3:c.2126A>G, XM_011515883.2:c.2126A>G, XM_011515883.1:c.2126A>G, XM_011515889.3:c.2036A>G, XM_011515889.2:c.2036A>G, XM_011515889.1:c.2036A>G, XM_011515894.3:c.1985A>G, XM_011515894.2:c.1985A>G, XM_011515894.1:c.1985A>G, XM_017011820.3:c.1958A>G, XM_017011820.2:c.1958A>G, XM_017011820.1:c.1958A>G, XM_017011819.2:c.1985A>G, XM_017011819.1:c.1985A>G, XM_047420000.1:c.1967A>G, XM_047419989.1:c.2126A>G, XM_047419994.1:c.2084A>G, XM_047419990.1:c.2111A>G, XM_047419993.1:c.2084A>G, XM_047419995.1:c.2078A>G, XM_047419991.1:c.2102A>G, XM_047419996.1:c.2063A>G, XM_047419992.1:c.2087A>G, XM_047419997.1:c.2060A>G, XM_047420005.1:c.1775A>G, XM_047419998.1:c.1994A>G, XM_047419999.1:c.1976A>G, XM_047420001.1:c.1961A>G, XM_047420002.1:c.1943A>G, XM_047420006.1:c.1775A>G, XM_047420004.1:c.1844A>G, NP_004447.2:p.Tyr701Cys, NP_694543.1:p.Tyr657Cys, NP_001190178.1:p.Tyr645Cys, NP_001190176.1:p.Tyr696Cys, NP_001190177.1:p.Tyr687Cys, XP_005250020.1:p.Tyr695Cys, XP_005250021.1:p.Tyr653Cys, XP_005250019.1:p.Tyr704Cys, XP_011514189.1:p.Tyr692Cys, XP_016867306.1:p.Tyr709Cys, XP_011514187.1:p.Tyr700Cys, XP_011514192.1:p.Tyr670Cys, XP_011514194.1:p.Tyr667Cys, XP_011514195.1:p.Tyr665Cys, XP_011514197.1:p.Tyr661Cys, XP_011514198.1:p.Tyr623Cys, XP_011514185.1:p.Tyr709Cys, XP_011514191.1:p.Tyr679Cys, XP_011514196.1:p.Tyr662Cys, XP_016867309.1:p.Tyr653Cys, XP_016867308.1:p.Tyr662Cys, XP_047275956.1:p.Tyr656Cys, XP_047275945.1:p.Tyr709Cys, XP_047275950.1:p.Tyr695Cys, XP_047275946.1:p.Tyr704Cys, XP_047275949.1:p.Tyr695Cys, XP_047275951.1:p.Tyr693Cys, XP_047275947.1:p.Tyr701Cys, XP_047275952.1:p.Tyr688Cys, XP_047275948.1:p.Tyr696Cys, XP_047275953.1:p.Tyr687Cys, XP_047275961.1:p.Tyr592Cys, XP_047275954.1:p.Tyr665Cys, XP_047275955.1:p.Tyr659Cys, XP_047275957.1:p.Tyr654Cys, XP_047275958.1:p.Tyr648Cys, XP_047275962.1:p.Tyr592Cys, XP_047275960.1:p.Tyr615Cys

                      11.

                      rs1479961823 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        7:148836928 (GRCh38)
                        7:148534020 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:148836927:C:G
                        Gene:
                        EZH2 (Varview)
                        Functional Consequence:
                        missense_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000008/2 (TOPMED)
                        HGVS:

                        12.

                        rs1479718775 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G,T [Show Flanks]
                          Chromosome:
                          7:148811700 (GRCh38)
                          7:148508792 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:148811699:A:G,NC_000007.14:148811699:A:T
                          Gene:
                          EZH2 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000007.14:g.148811700A>G, NC_000007.14:g.148811700A>T, NC_000007.13:g.148508792A>G, NC_000007.13:g.148508792A>T, NG_032043.1:g.77650T>C, NG_032043.1:g.77650T>A, NM_004456.5:c.1872T>C, NM_004456.5:c.1872T>A, NM_004456.4:c.1872T>C, NM_004456.4:c.1872T>A, NM_152998.3:c.1740T>C, NM_152998.3:c.1740T>A, NM_152998.2:c.1740T>C, NM_152998.2:c.1740T>A, NM_001203249.2:c.1704T>C, NM_001203249.2:c.1704T>A, NM_001203249.1:c.1704T>C, NM_001203249.1:c.1704T>A, NM_001203247.2:c.1857T>C, NM_001203247.2:c.1857T>A, NM_001203247.1:c.1857T>C, NM_001203247.1:c.1857T>A, NM_001203248.2:c.1830T>C, NM_001203248.2:c.1830T>A, NM_001203248.1:c.1830T>C, NM_001203248.1:c.1830T>A, XM_005249963.5:c.1854T>C, XM_005249963.5:c.1854T>A, XM_005249963.4:c.1854T>C, XM_005249963.4:c.1854T>A, XM_005249963.3:c.1854T>C, XM_005249963.3:c.1854T>A, XM_005249963.2:c.1854T>C, XM_005249963.2:c.1854T>A, XM_005249963.1:c.1854T>C, XM_005249963.1:c.1854T>A, XM_005249964.5:c.1728T>C, XM_005249964.5:c.1728T>A, XM_005249964.4:c.1728T>C, XM_005249964.4:c.1728T>A, XM_005249964.3:c.1728T>C, XM_005249964.3:c.1728T>A, XM_005249964.2:c.1728T>C, XM_005249964.2:c.1728T>A, XM_005249964.1:c.1728T>C, XM_005249964.1:c.1728T>A, XM_005249962.5:c.1881T>C, XM_005249962.5:c.1881T>A, XM_005249962.4:c.1881T>C, XM_005249962.4:c.1881T>A, XM_005249962.3:c.1881T>C, XM_005249962.3:c.1881T>A, XM_005249962.2:c.1881T>C, XM_005249962.2:c.1881T>A, XM_005249962.1:c.1881T>C, XM_005249962.1:c.1881T>A, XM_011515887.4:c.1845T>C, XM_011515887.4:c.1845T>A, XM_011515887.3:c.1845T>C, XM_011515887.3:c.1845T>A, XM_011515887.2:c.1845T>C, XM_011515887.2:c.1845T>A, XM_011515887.1:c.1845T>C, XM_011515887.1:c.1845T>A, XM_017011817.3:c.1896T>C, XM_017011817.3:c.1896T>A, XM_017011817.2:c.1896T>C, XM_017011817.2:c.1896T>A, XM_017011817.1:c.1896T>C, XM_017011817.1:c.1896T>A, XM_011515885.3:c.1869T>C, XM_011515885.3:c.1869T>A, XM_011515885.2:c.1869T>C, XM_011515885.2:c.1869T>A, XM_011515885.1:c.1869T>C, XM_011515885.1:c.1869T>A, XM_011515890.3:c.1779T>C, XM_011515890.3:c.1779T>A, XM_011515890.2:c.1779T>C, XM_011515890.2:c.1779T>A, XM_011515890.1:c.1779T>C, XM_011515890.1:c.1779T>A, XM_011515892.3:c.1770T>C, XM_011515892.3:c.1770T>A, XM_011515892.2:c.1770T>C, XM_011515892.2:c.1770T>A, XM_011515892.1:c.1770T>C, XM_011515892.1:c.1770T>A, XM_011515893.3:c.1764T>C, XM_011515893.3:c.1764T>A, XM_011515893.2:c.1764T>C, XM_011515893.2:c.1764T>A, XM_011515893.1:c.1764T>C, XM_011515893.1:c.1764T>A, XM_011515895.3:c.1752T>C, XM_011515895.3:c.1752T>A, XM_011515895.2:c.1752T>C, XM_011515895.2:c.1752T>A, XM_011515895.1:c.1752T>C, XM_011515895.1:c.1752T>A, XM_011515896.3:c.1638T>C, XM_011515896.3:c.1638T>A, XM_011515896.2:c.1638T>C, XM_011515896.2:c.1638T>A, XM_011515896.1:c.1638T>C, XM_011515896.1:c.1638T>A, XM_011515883.3:c.1896T>C, XM_011515883.3:c.1896T>A, XM_011515883.2:c.1896T>C, XM_011515883.2:c.1896T>A, XM_011515883.1:c.1896T>C, XM_011515883.1:c.1896T>A, XM_011515889.3:c.1806T>C, XM_011515889.3:c.1806T>A, XM_011515889.2:c.1806T>C, XM_011515889.2:c.1806T>A, XM_011515889.1:c.1806T>C, XM_011515889.1:c.1806T>A, XM_011515894.3:c.1755T>C, XM_011515894.3:c.1755T>A, XM_011515894.2:c.1755T>C, XM_011515894.2:c.1755T>A, XM_011515894.1:c.1755T>C, XM_011515894.1:c.1755T>A, XM_017011820.3:c.1728T>C, XM_017011820.3:c.1728T>A, XM_017011820.2:c.1728T>C, XM_017011820.2:c.1728T>A, XM_017011820.1:c.1728T>C, XM_017011820.1:c.1728T>A, XM_017011819.2:c.1755T>C, XM_017011819.2:c.1755T>A, XM_017011819.1:c.1755T>C, XM_017011819.1:c.1755T>A, XM_047420000.1:c.1737T>C, XM_047420000.1:c.1737T>A, XM_047419989.1:c.1896T>C, XM_047419989.1:c.1896T>A, XM_047419994.1:c.1854T>C, XM_047419994.1:c.1854T>A, XM_047419990.1:c.1881T>C, XM_047419990.1:c.1881T>A, XM_047419993.1:c.1854T>C, XM_047419993.1:c.1854T>A, XM_047419995.1:c.1848T>C, XM_047419995.1:c.1848T>A, XM_047419991.1:c.1872T>C, XM_047419991.1:c.1872T>A, XM_047419996.1:c.1833T>C, XM_047419996.1:c.1833T>A, XM_047419992.1:c.1857T>C, XM_047419992.1:c.1857T>A, XM_047419997.1:c.1830T>C, XM_047419997.1:c.1830T>A, XM_047420005.1:c.1545T>C, XM_047420005.1:c.1545T>A, XM_047419998.1:c.1764T>C, XM_047419998.1:c.1764T>A, XM_047419999.1:c.1746T>C, XM_047419999.1:c.1746T>A, XM_047420001.1:c.1731T>C, XM_047420001.1:c.1731T>A, XM_047420002.1:c.1713T>C, XM_047420002.1:c.1713T>A, XM_047420006.1:c.1545T>C, XM_047420006.1:c.1545T>A, XM_047420004.1:c.1614T>C, XM_047420004.1:c.1614T>A

                          13.

                          rs1478611049 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C,T [Show Flanks]
                            Chromosome:
                            7:148818067 (GRCh38)
                            7:148515159 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:148818066:G:A,NC_000007.14:148818066:G:C,NC_000007.14:148818066:G:T
                            Gene:
                            EZH2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Clinical significance:
                            likely-benign
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000007/1 (GnomAD)
                            C=0.000011/3 (TOPMED)
                            A=0.000546/1 (Korea1K)
                            HGVS:
                            NC_000007.14:g.148818067G>A, NC_000007.14:g.148818067G>C, NC_000007.14:g.148818067G>T, NC_000007.13:g.148515159G>A, NC_000007.13:g.148515159G>C, NC_000007.13:g.148515159G>T, NG_032043.1:g.71283C>T, NG_032043.1:g.71283C>G, NG_032043.1:g.71283C>A, NM_004456.5:c.1050C>T, NM_004456.5:c.1050C>G, NM_004456.5:c.1050C>A, NM_004456.4:c.1050C>T, NM_004456.4:c.1050C>G, NM_004456.4:c.1050C>A, NM_152998.3:c.918C>T, NM_152998.3:c.918C>G, NM_152998.3:c.918C>A, NM_152998.2:c.918C>T, NM_152998.2:c.918C>G, NM_152998.2:c.918C>A, NM_001203249.2:c.1008C>T, NM_001203249.2:c.1008C>G, NM_001203249.2:c.1008C>A, NM_001203249.1:c.1008C>T, NM_001203249.1:c.1008C>G, NM_001203249.1:c.1008C>A, NM_001203247.2:c.1035C>T, NM_001203247.2:c.1035C>G, NM_001203247.2:c.1035C>A, NM_001203247.1:c.1035C>T, NM_001203247.1:c.1035C>G, NM_001203247.1:c.1035C>A, NM_001203248.2:c.1008C>T, NM_001203248.2:c.1008C>G, NM_001203248.2:c.1008C>A, NM_001203248.1:c.1008C>T, NM_001203248.1:c.1008C>G, NM_001203248.1:c.1008C>A, XM_005249963.5:c.1032C>T, XM_005249963.5:c.1032C>G, XM_005249963.5:c.1032C>A, XM_005249963.4:c.1032C>T, XM_005249963.4:c.1032C>G, XM_005249963.4:c.1032C>A, XM_005249963.3:c.1032C>T, XM_005249963.3:c.1032C>G, XM_005249963.3:c.1032C>A, XM_005249963.2:c.1032C>T, XM_005249963.2:c.1032C>G, XM_005249963.2:c.1032C>A, XM_005249963.1:c.1032C>T, XM_005249963.1:c.1032C>G, XM_005249963.1:c.1032C>A, XM_005249964.5:c.1032C>T, XM_005249964.5:c.1032C>G, XM_005249964.5:c.1032C>A, XM_005249964.4:c.1032C>T, XM_005249964.4:c.1032C>G, XM_005249964.4:c.1032C>A, XM_005249964.3:c.1032C>T, XM_005249964.3:c.1032C>G, XM_005249964.3:c.1032C>A, XM_005249964.2:c.1032C>T, XM_005249964.2:c.1032C>G, XM_005249964.2:c.1032C>A, XM_005249964.1:c.1032C>T, XM_005249964.1:c.1032C>G, XM_005249964.1:c.1032C>A, XM_005249962.5:c.1059C>T, XM_005249962.5:c.1059C>G, XM_005249962.5:c.1059C>A, XM_005249962.4:c.1059C>T, XM_005249962.4:c.1059C>G, XM_005249962.4:c.1059C>A, XM_005249962.3:c.1059C>T, XM_005249962.3:c.1059C>G, XM_005249962.3:c.1059C>A, XM_005249962.2:c.1059C>T, XM_005249962.2:c.1059C>G, XM_005249962.2:c.1059C>A, XM_005249962.1:c.1059C>T, XM_005249962.1:c.1059C>G, XM_005249962.1:c.1059C>A, XM_011515899.4:c.1074C>T, XM_011515899.4:c.1074C>G, XM_011515899.4:c.1074C>A, XM_011515899.3:c.1074C>T, XM_011515899.3:c.1074C>G, XM_011515899.3:c.1074C>A, XM_011515899.2:c.1074C>T, XM_011515899.2:c.1074C>G, XM_011515899.2:c.1074C>A, XM_011515899.1:c.1074C>T, XM_011515899.1:c.1074C>G, XM_011515899.1:c.1074C>A, XM_011515901.4:c.1074C>T, XM_011515901.4:c.1074C>G, XM_011515901.4:c.1074C>A, XM_011515901.3:c.1074C>T, XM_011515901.3:c.1074C>G, XM_011515901.3:c.1074C>A, XM_011515901.2:c.1074C>T, XM_011515901.2:c.1074C>G, XM_011515901.2:c.1074C>A, XM_011515901.1:c.1074C>T, XM_011515901.1:c.1074C>G, XM_011515901.1:c.1074C>A, XM_011515887.4:c.1023C>T, XM_011515887.4:c.1023C>G, XM_011515887.4:c.1023C>A, XM_011515887.3:c.1023C>T, XM_011515887.3:c.1023C>G, XM_011515887.3:c.1023C>A, XM_011515887.2:c.1023C>T, XM_011515887.2:c.1023C>G, XM_011515887.2:c.1023C>A, XM_011515887.1:c.1023C>T, XM_011515887.1:c.1023C>G, XM_011515887.1:c.1023C>A, XM_017011817.3:c.1074C>T, XM_017011817.3:c.1074C>G, XM_017011817.3:c.1074C>A, XM_017011817.2:c.1074C>T, XM_017011817.2:c.1074C>G, XM_017011817.2:c.1074C>A, XM_017011817.1:c.1074C>T, XM_017011817.1:c.1074C>G, XM_017011817.1:c.1074C>A, XM_011515885.3:c.1047C>T, XM_011515885.3:c.1047C>G, XM_011515885.3:c.1047C>A, XM_011515885.2:c.1047C>T, XM_011515885.2:c.1047C>G, XM_011515885.2:c.1047C>A, XM_011515885.1:c.1047C>T, XM_011515885.1:c.1047C>G, XM_011515885.1:c.1047C>A, XM_011515890.3:c.957C>T, XM_011515890.3:c.957C>G, XM_011515890.3:c.957C>A, XM_011515890.2:c.957C>T, XM_011515890.2:c.957C>G, XM_011515890.2:c.957C>A, XM_011515890.1:c.957C>T, XM_011515890.1:c.957C>G, XM_011515890.1:c.957C>A, XM_011515892.3:c.1074C>T, XM_011515892.3:c.1074C>G, XM_011515892.3:c.1074C>A, XM_011515892.2:c.1074C>T, XM_011515892.2:c.1074C>G, XM_011515892.2:c.1074C>A, XM_011515892.1:c.1074C>T, XM_011515892.1:c.1074C>G, XM_011515892.1:c.1074C>A, XM_011515893.3:c.942C>T, XM_011515893.3:c.942C>G, XM_011515893.3:c.942C>A, XM_011515893.2:c.942C>T, XM_011515893.2:c.942C>G, XM_011515893.2:c.942C>A, XM_011515893.1:c.942C>T, XM_011515893.1:c.942C>G, XM_011515893.1:c.942C>A, XM_011515895.3:c.930C>T, XM_011515895.3:c.930C>G, XM_011515895.3:c.930C>A, XM_011515895.2:c.930C>T, XM_011515895.2:c.930C>G, XM_011515895.2:c.930C>A, XM_011515895.1:c.930C>T, XM_011515895.1:c.930C>G, XM_011515895.1:c.930C>A, XM_011515896.3:c.942C>T, XM_011515896.3:c.942C>G, XM_011515896.3:c.942C>A, XM_011515896.2:c.942C>T, XM_011515896.2:c.942C>G, XM_011515896.2:c.942C>A, XM_011515896.1:c.942C>T, XM_011515896.1:c.942C>G, XM_011515896.1:c.942C>A, XM_011515883.3:c.1074C>T, XM_011515883.3:c.1074C>G, XM_011515883.3:c.1074C>A, XM_011515883.2:c.1074C>T, XM_011515883.2:c.1074C>G, XM_011515883.2:c.1074C>A, XM_011515883.1:c.1074C>T, XM_011515883.1:c.1074C>G, XM_011515883.1:c.1074C>A, XM_011515889.3:c.984C>T, XM_011515889.3:c.984C>G, XM_011515889.3:c.984C>A, XM_011515889.2:c.984C>T, XM_011515889.2:c.984C>G, XM_011515889.2:c.984C>A, XM_011515889.1:c.984C>T, XM_011515889.1:c.984C>G, XM_011515889.1:c.984C>A, XM_011515894.3:c.933C>T, XM_011515894.3:c.933C>G, XM_011515894.3:c.933C>A, XM_011515894.2:c.933C>T, XM_011515894.2:c.933C>G, XM_011515894.2:c.933C>A, XM_011515894.1:c.933C>T, XM_011515894.1:c.933C>G, XM_011515894.1:c.933C>A, XM_017011820.3:c.906C>T, XM_017011820.3:c.906C>G, XM_017011820.3:c.906C>A, XM_017011820.2:c.906C>T, XM_017011820.2:c.906C>G, XM_017011820.2:c.906C>A, XM_017011820.1:c.906C>T, XM_017011820.1:c.906C>G, XM_017011820.1:c.906C>A, XM_017011819.2:c.1059C>T, XM_017011819.2:c.1059C>G, XM_017011819.2:c.1059C>A, XM_017011819.1:c.1059C>T, XM_017011819.1:c.1059C>G, XM_017011819.1:c.1059C>A, XM_047420000.1:c.915C>T, XM_047420000.1:c.915C>G, XM_047420000.1:c.915C>A, XM_047420008.1:c.1074C>T, XM_047420008.1:c.1074C>G, XM_047420008.1:c.1074C>A, XM_047420009.1:c.1074C>T, XM_047420009.1:c.1074C>G, XM_047420009.1:c.1074C>A, XM_047419989.1:c.1074C>T, XM_047419989.1:c.1074C>G, XM_047419989.1:c.1074C>A, XM_047419994.1:c.1032C>T, XM_047419994.1:c.1032C>G, XM_047419994.1:c.1032C>A, XM_047419990.1:c.1059C>T, XM_047419990.1:c.1059C>G, XM_047419990.1:c.1059C>A, XM_047419993.1:c.1032C>T, XM_047419993.1:c.1032C>G, XM_047419993.1:c.1032C>A, XM_047419995.1:c.1026C>T, XM_047419995.1:c.1026C>G, XM_047419995.1:c.1026C>A, XM_047419991.1:c.1050C>T, XM_047419991.1:c.1050C>G, XM_047419991.1:c.1050C>A, XM_047419996.1:c.1011C>T, XM_047419996.1:c.1011C>G, XM_047419996.1:c.1011C>A, XM_047419992.1:c.1035C>T, XM_047419992.1:c.1035C>G, XM_047419992.1:c.1035C>A, XM_047419997.1:c.1008C>T, XM_047419997.1:c.1008C>G, XM_047419997.1:c.1008C>A, XM_047420005.1:c.723C>T, XM_047420005.1:c.723C>G, XM_047420005.1:c.723C>A, XM_047419998.1:c.942C>T, XM_047419998.1:c.942C>G, XM_047419998.1:c.942C>A, XM_047419999.1:c.1050C>T, XM_047419999.1:c.1050C>G, XM_047419999.1:c.1050C>A, XM_047420001.1:c.1035C>T, XM_047420001.1:c.1035C>G, XM_047420001.1:c.1035C>A, XM_047420002.1:c.891C>T, XM_047420002.1:c.891C>G, XM_047420002.1:c.891C>A, XM_047420006.1:c.723C>T, XM_047420006.1:c.723C>G, XM_047420006.1:c.723C>A, XM_047420004.1:c.918C>T, XM_047420004.1:c.918C>G, XM_047420004.1:c.918C>A, XM_047420007.1:c.1035C>T, XM_047420007.1:c.1035C>G, XM_047420007.1:c.1035C>A

                            14.

                            rs1478572656 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              7:148836950 (GRCh38)
                              7:148534042 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:148836949:A:C
                              Gene:
                              EZH2 (Varview)
                              Functional Consequence:
                              missense_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000007/1 (GnomAD_exomes)
                              HGVS:

                              15.

                              rs1476603937 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,G,T [Show Flanks]
                                Chromosome:
                                7:148811689 (GRCh38)
                                7:148508781 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:148811688:C:A,NC_000007.14:148811688:C:G,NC_000007.14:148811688:C:T
                                Gene:
                                EZH2 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.000071/1 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000007.14:g.148811689C>A, NC_000007.14:g.148811689C>G, NC_000007.14:g.148811689C>T, NC_000007.13:g.148508781C>A, NC_000007.13:g.148508781C>G, NC_000007.13:g.148508781C>T, NG_032043.1:g.77661G>T, NG_032043.1:g.77661G>C, NG_032043.1:g.77661G>A, NM_004456.5:c.1883G>T, NM_004456.5:c.1883G>C, NM_004456.5:c.1883G>A, NM_004456.4:c.1883G>T, NM_004456.4:c.1883G>C, NM_004456.4:c.1883G>A, NM_152998.3:c.1751G>T, NM_152998.3:c.1751G>C, NM_152998.3:c.1751G>A, NM_152998.2:c.1751G>T, NM_152998.2:c.1751G>C, NM_152998.2:c.1751G>A, NM_001203249.2:c.1715G>T, NM_001203249.2:c.1715G>C, NM_001203249.2:c.1715G>A, NM_001203249.1:c.1715G>T, NM_001203249.1:c.1715G>C, NM_001203249.1:c.1715G>A, NM_001203247.2:c.1868G>T, NM_001203247.2:c.1868G>C, NM_001203247.2:c.1868G>A, NM_001203247.1:c.1868G>T, NM_001203247.1:c.1868G>C, NM_001203247.1:c.1868G>A, NM_001203248.2:c.1841G>T, NM_001203248.2:c.1841G>C, NM_001203248.2:c.1841G>A, NM_001203248.1:c.1841G>T, NM_001203248.1:c.1841G>C, NM_001203248.1:c.1841G>A, XM_005249963.5:c.1865G>T, XM_005249963.5:c.1865G>C, XM_005249963.5:c.1865G>A, XM_005249963.4:c.1865G>T, XM_005249963.4:c.1865G>C, XM_005249963.4:c.1865G>A, XM_005249963.3:c.1865G>T, XM_005249963.3:c.1865G>C, XM_005249963.3:c.1865G>A, XM_005249963.2:c.1865G>T, XM_005249963.2:c.1865G>C, XM_005249963.2:c.1865G>A, XM_005249963.1:c.1865G>T, XM_005249963.1:c.1865G>C, XM_005249963.1:c.1865G>A, XM_005249964.5:c.1739G>T, XM_005249964.5:c.1739G>C, XM_005249964.5:c.1739G>A, XM_005249964.4:c.1739G>T, XM_005249964.4:c.1739G>C, XM_005249964.4:c.1739G>A, XM_005249964.3:c.1739G>T, XM_005249964.3:c.1739G>C, XM_005249964.3:c.1739G>A, XM_005249964.2:c.1739G>T, XM_005249964.2:c.1739G>C, XM_005249964.2:c.1739G>A, XM_005249964.1:c.1739G>T, XM_005249964.1:c.1739G>C, XM_005249964.1:c.1739G>A, XM_005249962.5:c.1892G>T, XM_005249962.5:c.1892G>C, XM_005249962.5:c.1892G>A, XM_005249962.4:c.1892G>T, XM_005249962.4:c.1892G>C, XM_005249962.4:c.1892G>A, XM_005249962.3:c.1892G>T, XM_005249962.3:c.1892G>C, XM_005249962.3:c.1892G>A, XM_005249962.2:c.1892G>T, XM_005249962.2:c.1892G>C, XM_005249962.2:c.1892G>A, XM_005249962.1:c.1892G>T, XM_005249962.1:c.1892G>C, XM_005249962.1:c.1892G>A, XM_011515887.4:c.1856G>T, XM_011515887.4:c.1856G>C, XM_011515887.4:c.1856G>A, XM_011515887.3:c.1856G>T, XM_011515887.3:c.1856G>C, XM_011515887.3:c.1856G>A, XM_011515887.2:c.1856G>T, XM_011515887.2:c.1856G>C, XM_011515887.2:c.1856G>A, XM_011515887.1:c.1856G>T, XM_011515887.1:c.1856G>C, XM_011515887.1:c.1856G>A, XM_017011817.3:c.1907G>T, XM_017011817.3:c.1907G>C, XM_017011817.3:c.1907G>A, XM_017011817.2:c.1907G>T, XM_017011817.2:c.1907G>C, XM_017011817.2:c.1907G>A, XM_017011817.1:c.1907G>T, XM_017011817.1:c.1907G>C, XM_017011817.1:c.1907G>A, XM_011515885.3:c.1880G>T, XM_011515885.3:c.1880G>C, XM_011515885.3:c.1880G>A, XM_011515885.2:c.1880G>T, XM_011515885.2:c.1880G>C, XM_011515885.2:c.1880G>A, XM_011515885.1:c.1880G>T, XM_011515885.1:c.1880G>C, XM_011515885.1:c.1880G>A, XM_011515890.3:c.1790G>T, XM_011515890.3:c.1790G>C, XM_011515890.3:c.1790G>A, XM_011515890.2:c.1790G>T, XM_011515890.2:c.1790G>C, XM_011515890.2:c.1790G>A, XM_011515890.1:c.1790G>T, XM_011515890.1:c.1790G>C, XM_011515890.1:c.1790G>A, XM_011515892.3:c.1781G>T, XM_011515892.3:c.1781G>C, XM_011515892.3:c.1781G>A, XM_011515892.2:c.1781G>T, XM_011515892.2:c.1781G>C, XM_011515892.2:c.1781G>A, XM_011515892.1:c.1781G>T, XM_011515892.1:c.1781G>C, XM_011515892.1:c.1781G>A, XM_011515893.3:c.1775G>T, XM_011515893.3:c.1775G>C, XM_011515893.3:c.1775G>A, XM_011515893.2:c.1775G>T, XM_011515893.2:c.1775G>C, XM_011515893.2:c.1775G>A, XM_011515893.1:c.1775G>T, XM_011515893.1:c.1775G>C, XM_011515893.1:c.1775G>A, XM_011515895.3:c.1763G>T, XM_011515895.3:c.1763G>C, XM_011515895.3:c.1763G>A, XM_011515895.2:c.1763G>T, XM_011515895.2:c.1763G>C, XM_011515895.2:c.1763G>A, XM_011515895.1:c.1763G>T, XM_011515895.1:c.1763G>C, XM_011515895.1:c.1763G>A, XM_011515896.3:c.1649G>T, XM_011515896.3:c.1649G>C, XM_011515896.3:c.1649G>A, XM_011515896.2:c.1649G>T, XM_011515896.2:c.1649G>C, XM_011515896.2:c.1649G>A, XM_011515896.1:c.1649G>T, XM_011515896.1:c.1649G>C, XM_011515896.1:c.1649G>A, XM_011515883.3:c.1907G>T, XM_011515883.3:c.1907G>C, XM_011515883.3:c.1907G>A, XM_011515883.2:c.1907G>T, XM_011515883.2:c.1907G>C, XM_011515883.2:c.1907G>A, XM_011515883.1:c.1907G>T, XM_011515883.1:c.1907G>C, XM_011515883.1:c.1907G>A, XM_011515889.3:c.1817G>T, XM_011515889.3:c.1817G>C, XM_011515889.3:c.1817G>A, XM_011515889.2:c.1817G>T, XM_011515889.2:c.1817G>C, XM_011515889.2:c.1817G>A, XM_011515889.1:c.1817G>T, XM_011515889.1:c.1817G>C, XM_011515889.1:c.1817G>A, XM_011515894.3:c.1766G>T, XM_011515894.3:c.1766G>C, XM_011515894.3:c.1766G>A, XM_011515894.2:c.1766G>T, XM_011515894.2:c.1766G>C, XM_011515894.2:c.1766G>A, XM_011515894.1:c.1766G>T, XM_011515894.1:c.1766G>C, XM_011515894.1:c.1766G>A, XM_017011820.3:c.1739G>T, XM_017011820.3:c.1739G>C, XM_017011820.3:c.1739G>A, XM_017011820.2:c.1739G>T, XM_017011820.2:c.1739G>C, XM_017011820.2:c.1739G>A, XM_017011820.1:c.1739G>T, XM_017011820.1:c.1739G>C, XM_017011820.1:c.1739G>A, XM_017011819.2:c.1766G>T, XM_017011819.2:c.1766G>C, XM_017011819.2:c.1766G>A, XM_017011819.1:c.1766G>T, XM_017011819.1:c.1766G>C, XM_017011819.1:c.1766G>A, XM_047420000.1:c.1748G>T, XM_047420000.1:c.1748G>C, XM_047420000.1:c.1748G>A, XM_047419989.1:c.1907G>T, XM_047419989.1:c.1907G>C, XM_047419989.1:c.1907G>A, XM_047419994.1:c.1865G>T, XM_047419994.1:c.1865G>C, XM_047419994.1:c.1865G>A, XM_047419990.1:c.1892G>T, XM_047419990.1:c.1892G>C, XM_047419990.1:c.1892G>A, XM_047419993.1:c.1865G>T, XM_047419993.1:c.1865G>C, XM_047419993.1:c.1865G>A, XM_047419995.1:c.1859G>T, XM_047419995.1:c.1859G>C, XM_047419995.1:c.1859G>A, XM_047419991.1:c.1883G>T, XM_047419991.1:c.1883G>C, XM_047419991.1:c.1883G>A, XM_047419996.1:c.1844G>T, XM_047419996.1:c.1844G>C, XM_047419996.1:c.1844G>A, XM_047419992.1:c.1868G>T, XM_047419992.1:c.1868G>C, XM_047419992.1:c.1868G>A, XM_047419997.1:c.1841G>T, XM_047419997.1:c.1841G>C, XM_047419997.1:c.1841G>A, XM_047420005.1:c.1556G>T, XM_047420005.1:c.1556G>C, XM_047420005.1:c.1556G>A, XM_047419998.1:c.1775G>T, XM_047419998.1:c.1775G>C, XM_047419998.1:c.1775G>A, XM_047419999.1:c.1757G>T, XM_047419999.1:c.1757G>C, XM_047419999.1:c.1757G>A, XM_047420001.1:c.1742G>T, XM_047420001.1:c.1742G>C, XM_047420001.1:c.1742G>A, XM_047420002.1:c.1724G>T, XM_047420002.1:c.1724G>C, XM_047420002.1:c.1724G>A, XM_047420006.1:c.1556G>T, XM_047420006.1:c.1556G>C, XM_047420006.1:c.1556G>A, XM_047420004.1:c.1625G>T, XM_047420004.1:c.1625G>C, XM_047420004.1:c.1625G>A, NP_004447.2:p.Gly628Val, NP_004447.2:p.Gly628Ala, NP_004447.2:p.Gly628Asp, NP_694543.1:p.Gly584Val, NP_694543.1:p.Gly584Ala, NP_694543.1:p.Gly584Asp, NP_001190178.1:p.Gly572Val, NP_001190178.1:p.Gly572Ala, NP_001190178.1:p.Gly572Asp, NP_001190176.1:p.Gly623Val, NP_001190176.1:p.Gly623Ala, NP_001190176.1:p.Gly623Asp, NP_001190177.1:p.Gly614Val, NP_001190177.1:p.Gly614Ala, NP_001190177.1:p.Gly614Asp, XP_005250020.1:p.Gly622Val, XP_005250020.1:p.Gly622Ala, XP_005250020.1:p.Gly622Asp, XP_005250021.1:p.Gly580Val, XP_005250021.1:p.Gly580Ala, XP_005250021.1:p.Gly580Asp, XP_005250019.1:p.Gly631Val, XP_005250019.1:p.Gly631Ala, XP_005250019.1:p.Gly631Asp, XP_011514189.1:p.Gly619Val, XP_011514189.1:p.Gly619Ala, XP_011514189.1:p.Gly619Asp, XP_016867306.1:p.Gly636Val, XP_016867306.1:p.Gly636Ala, XP_016867306.1:p.Gly636Asp, XP_011514187.1:p.Gly627Val, XP_011514187.1:p.Gly627Ala, XP_011514187.1:p.Gly627Asp, XP_011514192.1:p.Gly597Val, XP_011514192.1:p.Gly597Ala, XP_011514192.1:p.Gly597Asp, XP_011514194.1:p.Gly594Val, XP_011514194.1:p.Gly594Ala, XP_011514194.1:p.Gly594Asp, XP_011514195.1:p.Gly592Val, XP_011514195.1:p.Gly592Ala, XP_011514195.1:p.Gly592Asp, XP_011514197.1:p.Gly588Val, XP_011514197.1:p.Gly588Ala, XP_011514197.1:p.Gly588Asp, XP_011514198.1:p.Gly550Val, XP_011514198.1:p.Gly550Ala, XP_011514198.1:p.Gly550Asp, XP_011514185.1:p.Gly636Val, XP_011514185.1:p.Gly636Ala, XP_011514185.1:p.Gly636Asp, XP_011514191.1:p.Gly606Val, XP_011514191.1:p.Gly606Ala, XP_011514191.1:p.Gly606Asp, XP_011514196.1:p.Gly589Val, XP_011514196.1:p.Gly589Ala, XP_011514196.1:p.Gly589Asp, XP_016867309.1:p.Gly580Val, XP_016867309.1:p.Gly580Ala, XP_016867309.1:p.Gly580Asp, XP_016867308.1:p.Gly589Val, XP_016867308.1:p.Gly589Ala, XP_016867308.1:p.Gly589Asp, XP_047275956.1:p.Gly583Val, XP_047275956.1:p.Gly583Ala, XP_047275956.1:p.Gly583Asp, XP_047275945.1:p.Gly636Val, XP_047275945.1:p.Gly636Ala, XP_047275945.1:p.Gly636Asp, XP_047275950.1:p.Gly622Val, XP_047275950.1:p.Gly622Ala, XP_047275950.1:p.Gly622Asp, XP_047275946.1:p.Gly631Val, XP_047275946.1:p.Gly631Ala, XP_047275946.1:p.Gly631Asp, XP_047275949.1:p.Gly622Val, XP_047275949.1:p.Gly622Ala, XP_047275949.1:p.Gly622Asp, XP_047275951.1:p.Gly620Val, XP_047275951.1:p.Gly620Ala, XP_047275951.1:p.Gly620Asp, XP_047275947.1:p.Gly628Val, XP_047275947.1:p.Gly628Ala, XP_047275947.1:p.Gly628Asp, XP_047275952.1:p.Gly615Val, XP_047275952.1:p.Gly615Ala, XP_047275952.1:p.Gly615Asp, XP_047275948.1:p.Gly623Val, XP_047275948.1:p.Gly623Ala, XP_047275948.1:p.Gly623Asp, XP_047275953.1:p.Gly614Val, XP_047275953.1:p.Gly614Ala, XP_047275953.1:p.Gly614Asp, XP_047275961.1:p.Gly519Val, XP_047275961.1:p.Gly519Ala, XP_047275961.1:p.Gly519Asp, XP_047275954.1:p.Gly592Val, XP_047275954.1:p.Gly592Ala, XP_047275954.1:p.Gly592Asp, XP_047275955.1:p.Gly586Val, XP_047275955.1:p.Gly586Ala, XP_047275955.1:p.Gly586Asp, XP_047275957.1:p.Gly581Val, XP_047275957.1:p.Gly581Ala, XP_047275957.1:p.Gly581Asp, XP_047275958.1:p.Gly575Val, XP_047275958.1:p.Gly575Ala, XP_047275958.1:p.Gly575Asp, XP_047275962.1:p.Gly519Val, XP_047275962.1:p.Gly519Ala, XP_047275962.1:p.Gly519Asp, XP_047275960.1:p.Gly542Val, XP_047275960.1:p.Gly542Ala, XP_047275960.1:p.Gly542Asp

                                16.

                                rs1475241273 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A,C,G [Show Flanks]
                                  Chromosome:
                                  7:148846510 (GRCh38)
                                  7:148543602 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:148846509:T:A,NC_000007.14:148846509:T:C,NC_000007.14:148846509:T:G
                                  Gene:
                                  EZH2 (Varview)
                                  Functional Consequence:
                                  missense_variant,5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000008/2 (TOPMED)
                                  C=0.000035/1 (TOMMO)
                                  HGVS:
                                  NC_000007.14:g.148846510T>A, NC_000007.14:g.148846510T>C, NC_000007.14:g.148846510T>G, NC_000007.13:g.148543602T>A, NC_000007.13:g.148543602T>C, NC_000007.13:g.148543602T>G, NG_032043.1:g.42840A>T, NG_032043.1:g.42840A>G, NG_032043.1:g.42840A>C, NM_004456.5:c.206A>T, NM_004456.5:c.206A>G, NM_004456.5:c.206A>C, NM_004456.4:c.206A>T, NM_004456.4:c.206A>G, NM_004456.4:c.206A>C, NM_152998.3:c.206A>T, NM_152998.3:c.206A>G, NM_152998.3:c.206A>C, NM_152998.2:c.206A>T, NM_152998.2:c.206A>G, NM_152998.2:c.206A>C, NM_001203249.2:c.206A>T, NM_001203249.2:c.206A>G, NM_001203249.2:c.206A>C, NM_001203249.1:c.206A>T, NM_001203249.1:c.206A>G, NM_001203249.1:c.206A>C, NM_001203247.2:c.206A>T, NM_001203247.2:c.206A>G, NM_001203247.2:c.206A>C, NM_001203247.1:c.206A>T, NM_001203247.1:c.206A>G, NM_001203247.1:c.206A>C, NM_001203248.2:c.206A>T, NM_001203248.2:c.206A>G, NM_001203248.2:c.206A>C, NM_001203248.1:c.206A>T, NM_001203248.1:c.206A>G, NM_001203248.1:c.206A>C, XM_005249963.5:c.230A>T, XM_005249963.5:c.230A>G, XM_005249963.5:c.230A>C, XM_005249963.4:c.230A>T, XM_005249963.4:c.230A>G, XM_005249963.4:c.230A>C, XM_005249963.3:c.230A>T, XM_005249963.3:c.230A>G, XM_005249963.3:c.230A>C, XM_005249963.2:c.230A>T, XM_005249963.2:c.230A>G, XM_005249963.2:c.230A>C, XM_005249963.1:c.230A>T, XM_005249963.1:c.230A>G, XM_005249963.1:c.230A>C, XM_005249964.5:c.230A>T, XM_005249964.5:c.230A>G, XM_005249964.5:c.230A>C, XM_005249964.4:c.230A>T, XM_005249964.4:c.230A>G, XM_005249964.4:c.230A>C, XM_005249964.3:c.230A>T, XM_005249964.3:c.230A>G, XM_005249964.3:c.230A>C, XM_005249964.2:c.230A>T, XM_005249964.2:c.230A>G, XM_005249964.2:c.230A>C, XM_005249964.1:c.230A>T, XM_005249964.1:c.230A>G, XM_005249964.1:c.230A>C, XM_005249962.5:c.230A>T, XM_005249962.5:c.230A>G, XM_005249962.5:c.230A>C, XM_005249962.4:c.230A>T, XM_005249962.4:c.230A>G, XM_005249962.4:c.230A>C, XM_005249962.3:c.230A>T, XM_005249962.3:c.230A>G, XM_005249962.3:c.230A>C, XM_005249962.2:c.230A>T, XM_005249962.2:c.230A>G, XM_005249962.2:c.230A>C, XM_005249962.1:c.230A>T, XM_005249962.1:c.230A>G, XM_005249962.1:c.230A>C, XM_011515899.4:c.230A>T, XM_011515899.4:c.230A>G, XM_011515899.4:c.230A>C, XM_011515899.3:c.230A>T, XM_011515899.3:c.230A>G, XM_011515899.3:c.230A>C, XM_011515899.2:c.230A>T, XM_011515899.2:c.230A>G, XM_011515899.2:c.230A>C, XM_011515899.1:c.230A>T, XM_011515899.1:c.230A>G, XM_011515899.1:c.230A>C, XM_011515901.4:c.230A>T, XM_011515901.4:c.230A>G, XM_011515901.4:c.230A>C, XM_011515901.3:c.230A>T, XM_011515901.3:c.230A>G, XM_011515901.3:c.230A>C, XM_011515901.2:c.230A>T, XM_011515901.2:c.230A>G, XM_011515901.2:c.230A>C, XM_011515901.1:c.230A>T, XM_011515901.1:c.230A>G, XM_011515901.1:c.230A>C, XM_011515887.4:c.206A>T, XM_011515887.4:c.206A>G, XM_011515887.4:c.206A>C, XM_011515887.3:c.206A>T, XM_011515887.3:c.206A>G, XM_011515887.3:c.206A>C, XM_011515887.2:c.206A>T, XM_011515887.2:c.206A>G, XM_011515887.2:c.206A>C, XM_011515887.1:c.206A>T, XM_011515887.1:c.206A>G, XM_011515887.1:c.206A>C, XM_017011817.3:c.230A>T, XM_017011817.3:c.230A>G, XM_017011817.3:c.230A>C, XM_017011817.2:c.230A>T, XM_017011817.2:c.230A>G, XM_017011817.2:c.230A>C, XM_017011817.1:c.230A>T, XM_017011817.1:c.230A>G, XM_017011817.1:c.230A>C, XM_011515885.3:c.230A>T, XM_011515885.3:c.230A>G, XM_011515885.3:c.230A>C, XM_011515885.2:c.230A>T, XM_011515885.2:c.230A>G, XM_011515885.2:c.230A>C, XM_011515885.1:c.230A>T, XM_011515885.1:c.230A>G, XM_011515885.1:c.230A>C, XM_011515890.3:c.230A>T, XM_011515890.3:c.230A>G, XM_011515890.3:c.230A>C, XM_011515890.2:c.230A>T, XM_011515890.2:c.230A>G, XM_011515890.2:c.230A>C, XM_011515890.1:c.230A>T, XM_011515890.1:c.230A>G, XM_011515890.1:c.230A>C, XM_011515892.3:c.230A>T, XM_011515892.3:c.230A>G, XM_011515892.3:c.230A>C, XM_011515892.2:c.230A>T, XM_011515892.2:c.230A>G, XM_011515892.2:c.230A>C, XM_011515892.1:c.230A>T, XM_011515892.1:c.230A>G, XM_011515892.1:c.230A>C, XM_011515893.3:c.230A>T, XM_011515893.3:c.230A>G, XM_011515893.3:c.230A>C, XM_011515893.2:c.230A>T, XM_011515893.2:c.230A>G, XM_011515893.2:c.230A>C, XM_011515893.1:c.230A>T, XM_011515893.1:c.230A>G, XM_011515893.1:c.230A>C, XM_011515895.3:c.230A>T, XM_011515895.3:c.230A>G, XM_011515895.3:c.230A>C, XM_011515895.2:c.230A>T, XM_011515895.2:c.230A>G, XM_011515895.2:c.230A>C, XM_011515895.1:c.230A>T, XM_011515895.1:c.230A>G, XM_011515895.1:c.230A>C, XM_011515896.3:c.230A>T, XM_011515896.3:c.230A>G, XM_011515896.3:c.230A>C, XM_011515896.2:c.230A>T, XM_011515896.2:c.230A>G, XM_011515896.2:c.230A>C, XM_011515896.1:c.230A>T, XM_011515896.1:c.230A>G, XM_011515896.1:c.230A>C, XM_011515883.3:c.230A>T, XM_011515883.3:c.230A>G, XM_011515883.3:c.230A>C, XM_011515883.2:c.230A>T, XM_011515883.2:c.230A>G, XM_011515883.2:c.230A>C, XM_011515883.1:c.230A>T, XM_011515883.1:c.230A>G, XM_011515883.1:c.230A>C, XM_011515889.3:c.30A>T, XM_011515889.3:c.30A>G, XM_011515889.3:c.30A>C, XM_011515889.2:c.30A>T, XM_011515889.2:c.30A>G, XM_011515889.2:c.30A>C, XM_011515889.1:c.30A>T, XM_011515889.1:c.30A>G, XM_011515889.1:c.30A>C, XM_011515894.3:c.206A>T, XM_011515894.3:c.206A>G, XM_011515894.3:c.206A>C, XM_011515894.2:c.206A>T, XM_011515894.2:c.206A>G, XM_011515894.2:c.206A>C, XM_011515894.1:c.206A>T, XM_011515894.1:c.206A>G, XM_011515894.1:c.206A>C, XM_017011820.3:c.206A>T, XM_017011820.3:c.206A>G, XM_017011820.3:c.206A>C, XM_017011820.2:c.206A>T, XM_017011820.2:c.206A>G, XM_017011820.2:c.206A>C, XM_017011820.1:c.206A>T, XM_017011820.1:c.206A>G, XM_017011820.1:c.206A>C, XM_017011819.2:c.230A>T, XM_017011819.2:c.230A>G, XM_017011819.2:c.230A>C, XM_017011819.1:c.230A>T, XM_017011819.1:c.230A>G, XM_017011819.1:c.230A>C, XM_047420000.1:c.230A>T, XM_047420000.1:c.230A>G, XM_047420000.1:c.230A>C, XM_047420008.1:c.230A>T, XM_047420008.1:c.230A>G, XM_047420008.1:c.230A>C, XM_047420009.1:c.230A>T, XM_047420009.1:c.230A>G, XM_047420009.1:c.230A>C, XM_047419989.1:c.230A>T, XM_047419989.1:c.230A>G, XM_047419989.1:c.230A>C, XM_047419994.1:c.230A>T, XM_047419994.1:c.230A>G, XM_047419994.1:c.230A>C, XM_047419990.1:c.230A>T, XM_047419990.1:c.230A>G, XM_047419990.1:c.230A>C, XM_047419993.1:c.230A>T, XM_047419993.1:c.230A>G, XM_047419993.1:c.230A>C, XM_047419995.1:c.30A>T, XM_047419995.1:c.30A>G, XM_047419995.1:c.30A>C, XM_047419991.1:c.206A>T, XM_047419991.1:c.206A>G, XM_047419991.1:c.206A>C, XM_047419996.1:c.30A>T, XM_047419996.1:c.30A>G, XM_047419996.1:c.30A>C, XM_047419992.1:c.206A>T, XM_047419992.1:c.206A>G, XM_047419992.1:c.206A>C, XM_047419997.1:c.206A>T, XM_047419997.1:c.206A>G, XM_047419997.1:c.206A>C, XM_047420005.1:c.-301A>T, XM_047420005.1:c.-301A>G, XM_047420005.1:c.-301A>C, XM_047419998.1:c.230A>T, XM_047419998.1:c.230A>G, XM_047419998.1:c.230A>C, XM_047419999.1:c.206A>T, XM_047419999.1:c.206A>G, XM_047419999.1:c.206A>C, XM_047420001.1:c.206A>T, XM_047420001.1:c.206A>G, XM_047420001.1:c.206A>C, XM_047420002.1:c.206A>T, XM_047420002.1:c.206A>G, XM_047420002.1:c.206A>C, XM_047420006.1:c.-259A>T, XM_047420006.1:c.-259A>G, XM_047420006.1:c.-259A>C, XM_047420004.1:c.206A>T, XM_047420004.1:c.206A>G, XM_047420004.1:c.206A>C, XM_047420007.1:c.206A>T, XM_047420007.1:c.206A>G, XM_047420007.1:c.206A>C, NP_004447.2:p.His69Leu, NP_004447.2:p.His69Arg, NP_004447.2:p.His69Pro, NP_694543.1:p.His69Leu, NP_694543.1:p.His69Arg, NP_694543.1:p.His69Pro, NP_001190178.1:p.His69Leu, NP_001190178.1:p.His69Arg, NP_001190178.1:p.His69Pro, NP_001190176.1:p.His69Leu, NP_001190176.1:p.His69Arg, NP_001190176.1:p.His69Pro, NP_001190177.1:p.His69Leu, NP_001190177.1:p.His69Arg, NP_001190177.1:p.His69Pro, XP_005250020.1:p.His77Leu, XP_005250020.1:p.His77Arg, XP_005250020.1:p.His77Pro, XP_005250021.1:p.His77Leu, XP_005250021.1:p.His77Arg, XP_005250021.1:p.His77Pro, XP_005250019.1:p.His77Leu, XP_005250019.1:p.His77Arg, XP_005250019.1:p.His77Pro, XP_011514201.1:p.His77Leu, XP_011514201.1:p.His77Arg, XP_011514201.1:p.His77Pro, XP_011514203.1:p.His77Leu, XP_011514203.1:p.His77Arg, XP_011514203.1:p.His77Pro, XP_011514189.1:p.His69Leu, XP_011514189.1:p.His69Arg, XP_011514189.1:p.His69Pro, XP_016867306.1:p.His77Leu, XP_016867306.1:p.His77Arg, XP_016867306.1:p.His77Pro, XP_011514187.1:p.His77Leu, XP_011514187.1:p.His77Arg, XP_011514187.1:p.His77Pro, XP_011514192.1:p.His77Leu, XP_011514192.1:p.His77Arg, XP_011514192.1:p.His77Pro, XP_011514194.1:p.His77Leu, XP_011514194.1:p.His77Arg, XP_011514194.1:p.His77Pro, XP_011514195.1:p.His77Leu, XP_011514195.1:p.His77Arg, XP_011514195.1:p.His77Pro, XP_011514197.1:p.His77Leu, XP_011514197.1:p.His77Arg, XP_011514197.1:p.His77Pro, XP_011514198.1:p.His77Leu, XP_011514198.1:p.His77Arg, XP_011514198.1:p.His77Pro, XP_011514185.1:p.His77Leu, XP_011514185.1:p.His77Arg, XP_011514185.1:p.His77Pro, XP_011514196.1:p.His69Leu, XP_011514196.1:p.His69Arg, XP_011514196.1:p.His69Pro, XP_016867309.1:p.His69Leu, XP_016867309.1:p.His69Arg, XP_016867309.1:p.His69Pro, XP_016867308.1:p.His77Leu, XP_016867308.1:p.His77Arg, XP_016867308.1:p.His77Pro, XP_047275956.1:p.His77Leu, XP_047275956.1:p.His77Arg, XP_047275956.1:p.His77Pro, XP_047275964.1:p.His77Leu, XP_047275964.1:p.His77Arg, XP_047275964.1:p.His77Pro, XP_047275965.1:p.His77Leu, XP_047275965.1:p.His77Arg, XP_047275965.1:p.His77Pro, XP_047275945.1:p.His77Leu, XP_047275945.1:p.His77Arg, XP_047275945.1:p.His77Pro, XP_047275950.1:p.His77Leu, XP_047275950.1:p.His77Arg, XP_047275950.1:p.His77Pro, XP_047275946.1:p.His77Leu, XP_047275946.1:p.His77Arg, XP_047275946.1:p.His77Pro, XP_047275949.1:p.His77Leu, XP_047275949.1:p.His77Arg, XP_047275949.1:p.His77Pro, XP_047275947.1:p.His69Leu, XP_047275947.1:p.His69Arg, XP_047275947.1:p.His69Pro, XP_047275948.1:p.His69Leu, XP_047275948.1:p.His69Arg, XP_047275948.1:p.His69Pro, XP_047275953.1:p.His69Leu, XP_047275953.1:p.His69Arg, XP_047275953.1:p.His69Pro, XP_047275954.1:p.His77Leu, XP_047275954.1:p.His77Arg, XP_047275954.1:p.His77Pro, XP_047275955.1:p.His69Leu, XP_047275955.1:p.His69Arg, XP_047275955.1:p.His69Pro, XP_047275957.1:p.His69Leu, XP_047275957.1:p.His69Arg, XP_047275957.1:p.His69Pro, XP_047275958.1:p.His69Leu, XP_047275958.1:p.His69Arg, XP_047275958.1:p.His69Pro, XP_047275960.1:p.His69Leu, XP_047275960.1:p.His69Arg, XP_047275960.1:p.His69Pro, XP_047275963.1:p.His69Leu, XP_047275963.1:p.His69Arg, XP_047275963.1:p.His69Pro

                                  17.

                                  rs1474211340 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    7:148815534 (GRCh38)
                                    7:148512626 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:148815533:T:G
                                    Gene:
                                    EZH2 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000007.14:g.148815534T>G, NC_000007.13:g.148512626T>G, NG_032043.1:g.73816A>C, NM_004456.5:c.1518A>C, NM_004456.4:c.1518A>C, NM_152998.3:c.1386A>C, NM_152998.2:c.1386A>C, NM_001203249.2:c.1476A>C, NM_001203249.1:c.1476A>C, NM_001203247.2:c.1503A>C, NM_001203247.1:c.1503A>C, NM_001203248.2:c.1476A>C, NM_001203248.1:c.1476A>C, XM_005249963.5:c.1500A>C, XM_005249963.4:c.1500A>C, XM_005249963.3:c.1500A>C, XM_005249963.2:c.1500A>C, XM_005249963.1:c.1500A>C, XM_005249964.5:c.1500A>C, XM_005249964.4:c.1500A>C, XM_005249964.3:c.1500A>C, XM_005249964.2:c.1500A>C, XM_005249964.1:c.1500A>C, XM_005249962.5:c.1527A>C, XM_005249962.4:c.1527A>C, XM_005249962.3:c.1527A>C, XM_005249962.2:c.1527A>C, XM_005249962.1:c.1527A>C, XM_011515901.4:c.1277A>C, XM_011515901.3:c.1277A>C, XM_011515901.2:c.1277A>C, XM_011515901.1:c.1277A>C, XM_011515887.4:c.1491A>C, XM_011515887.3:c.1491A>C, XM_011515887.2:c.1491A>C, XM_011515887.1:c.1491A>C, XM_017011817.3:c.1542A>C, XM_017011817.2:c.1542A>C, XM_017011817.1:c.1542A>C, XM_011515885.3:c.1515A>C, XM_011515885.2:c.1515A>C, XM_011515885.1:c.1515A>C, XM_011515890.3:c.1425A>C, XM_011515890.2:c.1425A>C, XM_011515890.1:c.1425A>C, XM_011515892.3:c.1542A>C, XM_011515892.2:c.1542A>C, XM_011515892.1:c.1542A>C, XM_011515893.3:c.1410A>C, XM_011515893.2:c.1410A>C, XM_011515893.1:c.1410A>C, XM_011515895.3:c.1398A>C, XM_011515895.2:c.1398A>C, XM_011515895.1:c.1398A>C, XM_011515896.3:c.1410A>C, XM_011515896.2:c.1410A>C, XM_011515896.1:c.1410A>C, XM_011515883.3:c.1542A>C, XM_011515883.2:c.1542A>C, XM_011515883.1:c.1542A>C, XM_011515889.3:c.1452A>C, XM_011515889.2:c.1452A>C, XM_011515889.1:c.1452A>C, XM_011515894.3:c.1401A>C, XM_011515894.2:c.1401A>C, XM_011515894.1:c.1401A>C, XM_017011820.3:c.1374A>C, XM_017011820.2:c.1374A>C, XM_017011820.1:c.1374A>C, XM_017011819.2:c.1527A>C, XM_017011819.1:c.1527A>C, XM_047420000.1:c.1383A>C, XM_047420008.1:c.1277A>C, XM_047419989.1:c.1542A>C, XM_047419994.1:c.1500A>C, XM_047419990.1:c.1527A>C, XM_047419993.1:c.1500A>C, XM_047419995.1:c.1494A>C, XM_047419991.1:c.1518A>C, XM_047419996.1:c.1479A>C, XM_047419992.1:c.1503A>C, XM_047419997.1:c.1476A>C, XM_047420005.1:c.1191A>C, XM_047419998.1:c.1410A>C, XM_047419999.1:c.1518A>C, XM_047420001.1:c.1503A>C, XM_047420002.1:c.1359A>C, XM_047420006.1:c.1191A>C, XM_047420004.1:c.1386A>C, XP_011514203.1:p.His426Pro, XP_047275964.1:p.His426Pro

                                    18.

                                    rs1473254071 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      7:148814001 (GRCh38)
                                      7:148511093 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:148814000:A:G
                                      Gene:
                                      EZH2 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant
                                      Clinical significance:
                                      likely-benign
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000007.14:g.148814001A>G, NC_000007.13:g.148511093A>G, NG_032043.1:g.75349T>C, NM_004456.5:c.1809T>C, NM_004456.4:c.1809T>C, NM_152998.3:c.1677T>C, NM_152998.2:c.1677T>C, NM_001203249.2:c.1641T>C, NM_001203249.1:c.1641T>C, NM_001203247.2:c.1794T>C, NM_001203247.1:c.1794T>C, NM_001203248.2:c.1767T>C, NM_001203248.1:c.1767T>C, XM_005249963.5:c.1791T>C, XM_005249963.4:c.1791T>C, XM_005249963.3:c.1791T>C, XM_005249963.2:c.1791T>C, XM_005249963.1:c.1791T>C, XM_005249964.5:c.1665T>C, XM_005249964.4:c.1665T>C, XM_005249964.3:c.1665T>C, XM_005249964.2:c.1665T>C, XM_005249964.1:c.1665T>C, XM_005249962.5:c.1818T>C, XM_005249962.4:c.1818T>C, XM_005249962.3:c.1818T>C, XM_005249962.2:c.1818T>C, XM_005249962.1:c.1818T>C, XM_011515887.4:c.1782T>C, XM_011515887.3:c.1782T>C, XM_011515887.2:c.1782T>C, XM_011515887.1:c.1782T>C, XM_017011817.3:c.1833T>C, XM_017011817.2:c.1833T>C, XM_017011817.1:c.1833T>C, XM_011515885.3:c.1806T>C, XM_011515885.2:c.1806T>C, XM_011515885.1:c.1806T>C, XM_011515890.3:c.1716T>C, XM_011515890.2:c.1716T>C, XM_011515890.1:c.1716T>C, XM_011515892.3:c.1707T>C, XM_011515892.2:c.1707T>C, XM_011515892.1:c.1707T>C, XM_011515893.3:c.1701T>C, XM_011515893.2:c.1701T>C, XM_011515893.1:c.1701T>C, XM_011515895.3:c.1689T>C, XM_011515895.2:c.1689T>C, XM_011515895.1:c.1689T>C, XM_011515896.3:c.1575T>C, XM_011515896.2:c.1575T>C, XM_011515896.1:c.1575T>C, XM_011515883.3:c.1833T>C, XM_011515883.2:c.1833T>C, XM_011515883.1:c.1833T>C, XM_011515889.3:c.1743T>C, XM_011515889.2:c.1743T>C, XM_011515889.1:c.1743T>C, XM_011515894.3:c.1692T>C, XM_011515894.2:c.1692T>C, XM_011515894.1:c.1692T>C, XM_017011820.3:c.1665T>C, XM_017011820.2:c.1665T>C, XM_017011820.1:c.1665T>C, XM_017011819.2:c.1692T>C, XM_017011819.1:c.1692T>C, XM_047420000.1:c.1674T>C, XM_047419989.1:c.1833T>C, XM_047419994.1:c.1791T>C, XM_047419990.1:c.1818T>C, XM_047419993.1:c.1791T>C, XM_047419995.1:c.1785T>C, XM_047419991.1:c.1809T>C, XM_047419996.1:c.1770T>C, XM_047419992.1:c.1794T>C, XM_047419997.1:c.1767T>C, XM_047420005.1:c.1482T>C, XM_047419998.1:c.1701T>C, XM_047419999.1:c.1683T>C, XM_047420001.1:c.1668T>C, XM_047420002.1:c.1650T>C, XM_047420006.1:c.1482T>C, XM_047420004.1:c.1551T>C

                                      19.

                                      rs1473228269 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        7:148815025 (GRCh38)
                                        7:148512117 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:148815024:G:A
                                        Gene:
                                        EZH2 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,intron_variant,missense_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_000007.14:g.148815025G>A, NC_000007.13:g.148512117G>A, NG_032043.1:g.74325C>T, NM_004456.5:c.1561C>T, NM_004456.4:c.1561C>T, NM_152998.3:c.1429C>T, NM_152998.2:c.1429C>T, NM_001203247.2:c.1546C>T, NM_001203247.1:c.1546C>T, NM_001203248.2:c.1519C>T, NM_001203248.1:c.1519C>T, XM_005249963.5:c.1543C>T, XM_005249963.4:c.1543C>T, XM_005249963.3:c.1543C>T, XM_005249963.2:c.1543C>T, XM_005249963.1:c.1543C>T, XM_005249962.5:c.1570C>T, XM_005249962.4:c.1570C>T, XM_005249962.3:c.1570C>T, XM_005249962.2:c.1570C>T, XM_005249962.1:c.1570C>T, XM_011515887.4:c.1534C>T, XM_011515887.3:c.1534C>T, XM_011515887.2:c.1534C>T, XM_011515887.1:c.1534C>T, XM_017011817.3:c.1585C>T, XM_017011817.2:c.1585C>T, XM_017011817.1:c.1585C>T, XM_011515885.3:c.1558C>T, XM_011515885.2:c.1558C>T, XM_011515885.1:c.1558C>T, XM_011515890.3:c.1468C>T, XM_011515890.2:c.1468C>T, XM_011515890.1:c.1468C>T, XM_011515893.3:c.1453C>T, XM_011515893.2:c.1453C>T, XM_011515893.1:c.1453C>T, XM_011515895.3:c.1441C>T, XM_011515895.2:c.1441C>T, XM_011515895.1:c.1441C>T, XM_011515883.3:c.1585C>T, XM_011515883.2:c.1585C>T, XM_011515883.1:c.1585C>T, XM_011515889.3:c.1495C>T, XM_011515889.2:c.1495C>T, XM_011515889.1:c.1495C>T, XM_011515894.3:c.1444C>T, XM_011515894.2:c.1444C>T, XM_011515894.1:c.1444C>T, XM_017011820.3:c.1417C>T, XM_017011820.2:c.1417C>T, XM_017011820.1:c.1417C>T, XM_047420000.1:c.1426C>T, XM_047420008.1:c.*21C>T, XM_047419989.1:c.1585C>T, XM_047419994.1:c.1543C>T, XM_047419990.1:c.1570C>T, XM_047419993.1:c.1543C>T, XM_047419995.1:c.1537C>T, XM_047419991.1:c.1561C>T, XM_047419996.1:c.1522C>T, XM_047419992.1:c.1546C>T, XM_047419997.1:c.1519C>T, XM_047420005.1:c.1234C>T, XM_047419998.1:c.1453C>T, XM_047420002.1:c.1402C>T, XM_047420006.1:c.1234C>T, NP_004447.2:p.His521Tyr, NP_694543.1:p.His477Tyr, NP_001190176.1:p.His516Tyr, NP_001190177.1:p.His507Tyr, XP_005250020.1:p.His515Tyr, XP_005250019.1:p.His524Tyr, XP_011514189.1:p.His512Tyr, XP_016867306.1:p.His529Tyr, XP_011514187.1:p.His520Tyr, XP_011514192.1:p.His490Tyr, XP_011514195.1:p.His485Tyr, XP_011514197.1:p.His481Tyr, XP_011514185.1:p.His529Tyr, XP_011514191.1:p.His499Tyr, XP_011514196.1:p.His482Tyr, XP_016867309.1:p.His473Tyr, XP_047275956.1:p.His476Tyr, XP_047275945.1:p.His529Tyr, XP_047275950.1:p.His515Tyr, XP_047275946.1:p.His524Tyr, XP_047275949.1:p.His515Tyr, XP_047275951.1:p.His513Tyr, XP_047275947.1:p.His521Tyr, XP_047275952.1:p.His508Tyr, XP_047275948.1:p.His516Tyr, XP_047275953.1:p.His507Tyr, XP_047275961.1:p.His412Tyr, XP_047275954.1:p.His485Tyr, XP_047275958.1:p.His468Tyr, XP_047275962.1:p.His412Tyr

                                        20.

                                        rs1468914332 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          7:148817928 (GRCh38)
                                          7:148515020 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:148817927:T:C
                                          Gene:
                                          EZH2 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.0002/1 (ALFA)
                                          C=0.0002/1 (Estonian)
                                          HGVS:
                                          NC_000007.14:g.148817928T>C, NC_000007.13:g.148515020T>C, NG_032043.1:g.71422A>G, NM_004456.5:c.1189A>G, NM_004456.4:c.1189A>G, NM_152998.3:c.1057A>G, NM_152998.2:c.1057A>G, NM_001203249.2:c.1147A>G, NM_001203249.1:c.1147A>G, NM_001203247.2:c.1174A>G, NM_001203247.1:c.1174A>G, NM_001203248.2:c.1147A>G, NM_001203248.1:c.1147A>G, XM_005249963.5:c.1171A>G, XM_005249963.4:c.1171A>G, XM_005249963.3:c.1171A>G, XM_005249963.2:c.1171A>G, XM_005249963.1:c.1171A>G, XM_005249964.5:c.1171A>G, XM_005249964.4:c.1171A>G, XM_005249964.3:c.1171A>G, XM_005249964.2:c.1171A>G, XM_005249964.1:c.1171A>G, XM_005249962.5:c.1198A>G, XM_005249962.4:c.1198A>G, XM_005249962.3:c.1198A>G, XM_005249962.2:c.1198A>G, XM_005249962.1:c.1198A>G, XM_011515899.4:c.1213A>G, XM_011515899.3:c.1213A>G, XM_011515899.2:c.1213A>G, XM_011515899.1:c.1213A>G, XM_011515901.4:c.1213A>G, XM_011515901.3:c.1213A>G, XM_011515901.2:c.1213A>G, XM_011515901.1:c.1213A>G, XM_011515887.4:c.1162A>G, XM_011515887.3:c.1162A>G, XM_011515887.2:c.1162A>G, XM_011515887.1:c.1162A>G, XM_017011817.3:c.1213A>G, XM_017011817.2:c.1213A>G, XM_017011817.1:c.1213A>G, XM_011515885.3:c.1186A>G, XM_011515885.2:c.1186A>G, XM_011515885.1:c.1186A>G, XM_011515890.3:c.1096A>G, XM_011515890.2:c.1096A>G, XM_011515890.1:c.1096A>G, XM_011515892.3:c.1213A>G, XM_011515892.2:c.1213A>G, XM_011515892.1:c.1213A>G, XM_011515893.3:c.1081A>G, XM_011515893.2:c.1081A>G, XM_011515893.1:c.1081A>G, XM_011515895.3:c.1069A>G, XM_011515895.2:c.1069A>G, XM_011515895.1:c.1069A>G, XM_011515896.3:c.1081A>G, XM_011515896.2:c.1081A>G, XM_011515896.1:c.1081A>G, XM_011515883.3:c.1213A>G, XM_011515883.2:c.1213A>G, XM_011515883.1:c.1213A>G, XM_011515889.3:c.1123A>G, XM_011515889.2:c.1123A>G, XM_011515889.1:c.1123A>G, XM_011515894.3:c.1072A>G, XM_011515894.2:c.1072A>G, XM_011515894.1:c.1072A>G, XM_017011820.3:c.1045A>G, XM_017011820.2:c.1045A>G, XM_017011820.1:c.1045A>G, XM_017011819.2:c.1198A>G, XM_017011819.1:c.1198A>G, XM_047420000.1:c.1054A>G, XM_047420008.1:c.1213A>G, XM_047420009.1:c.1213A>G, XM_047419989.1:c.1213A>G, XM_047419994.1:c.1171A>G, XM_047419990.1:c.1198A>G, XM_047419993.1:c.1171A>G, XM_047419995.1:c.1165A>G, XM_047419991.1:c.1189A>G, XM_047419996.1:c.1150A>G, XM_047419992.1:c.1174A>G, XM_047419997.1:c.1147A>G, XM_047420005.1:c.862A>G, XM_047419998.1:c.1081A>G, XM_047419999.1:c.1189A>G, XM_047420001.1:c.1174A>G, XM_047420002.1:c.1030A>G, XM_047420006.1:c.862A>G, XM_047420004.1:c.1057A>G, XM_047420007.1:c.1174A>G, NP_004447.2:p.Asn397Asp, NP_694543.1:p.Asn353Asp, NP_001190178.1:p.Asn383Asp, NP_001190176.1:p.Asn392Asp, NP_001190177.1:p.Asn383Asp, XP_005250020.1:p.Asn391Asp, XP_005250021.1:p.Asn391Asp, XP_005250019.1:p.Asn400Asp, XP_011514201.1:p.Asn405Asp, XP_011514203.1:p.Asn405Asp, XP_011514189.1:p.Asn388Asp, XP_016867306.1:p.Asn405Asp, XP_011514187.1:p.Asn396Asp, XP_011514192.1:p.Asn366Asp, XP_011514194.1:p.Asn405Asp, XP_011514195.1:p.Asn361Asp, XP_011514197.1:p.Asn357Asp, XP_011514198.1:p.Asn361Asp, XP_011514185.1:p.Asn405Asp, XP_011514191.1:p.Asn375Asp, XP_011514196.1:p.Asn358Asp, XP_016867309.1:p.Asn349Asp, XP_016867308.1:p.Asn400Asp, XP_047275956.1:p.Asn352Asp, XP_047275964.1:p.Asn405Asp, XP_047275965.1:p.Asn405Asp, XP_047275945.1:p.Asn405Asp, XP_047275950.1:p.Asn391Asp, XP_047275946.1:p.Asn400Asp, XP_047275949.1:p.Asn391Asp, XP_047275951.1:p.Asn389Asp, XP_047275947.1:p.Asn397Asp, XP_047275952.1:p.Asn384Asp, XP_047275948.1:p.Asn392Asp, XP_047275953.1:p.Asn383Asp, XP_047275961.1:p.Asn288Asp, XP_047275954.1:p.Asn361Asp, XP_047275955.1:p.Asn397Asp, XP_047275957.1:p.Asn392Asp, XP_047275958.1:p.Asn344Asp, XP_047275962.1:p.Asn288Asp, XP_047275960.1:p.Asn353Asp, XP_047275963.1:p.Asn392Asp

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