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Items: 1 to 20 of 956

1.

rs1490754762 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    20:47246421 (GRCh38)
    20:45875165 (GRCh37)
    Canonical SPDI:
    NC_000020.11:47246420:C:G
    Gene:
    ZMYND8 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,coding_sequence_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_000020.11:g.47246421C>G, NC_000020.10:g.45875165C>G, NM_012408.6:c.1871G>C, NM_012408.5:c.1871G>C, NM_012408.4:c.1871G>C, NM_012408.3:c.1871G>C, NM_183047.4:c.1871G>C, NM_183047.3:c.1871G>C, NM_183047.2:c.1871G>C, NM_183047.1:c.1871G>C, NM_183048.4:c.1796G>C, NM_183048.3:c.1796G>C, NM_183048.2:c.1796G>C, NM_183048.1:c.1796G>C, NM_001281773.3:c.1811G>C, NM_001281773.2:c.1811G>C, NM_001281773.1:c.1811G>C, NM_001281772.3:c.1811G>C, NM_001281772.2:c.1811G>C, NM_001281772.1:c.1811G>C, NM_001281775.3:c.1871G>C, NM_001281775.2:c.1871G>C, NM_001281775.1:c.1871G>C, NM_001281779.3:c.1067G>C, NM_001281779.2:c.1067G>C, NM_001281779.1:c.1067G>C, NM_001281774.3:c.1811G>C, NM_001281774.2:c.1811G>C, NM_001281774.1:c.1811G>C, NM_001281783.3:c.1871G>C, NM_001281783.2:c.1871G>C, NM_001281783.1:c.1871G>C, NM_001281780.3:c.1067G>C, NM_001281780.2:c.1067G>C, NM_001281780.1:c.1067G>C, NM_001281778.3:c.1796G>C, NM_001281778.2:c.1796G>C, NM_001281778.1:c.1796G>C, NM_001281777.3:c.1796G>C, NM_001281777.2:c.1796G>C, NM_001281777.1:c.1796G>C, NM_001281782.3:c.1796G>C, NM_001281782.2:c.1796G>C, NM_001281782.1:c.1796G>C, NM_001281784.3:c.1655G>C, NM_001281784.2:c.1655G>C, NM_001281784.1:c.1655G>C, NM_001281776.3:c.1871G>C, NM_001281776.2:c.1871G>C, NM_001281776.1:c.1871G>C, NM_001281781.3:c.1655G>C, NM_001281781.2:c.1655G>C, NM_001281781.1:c.1655G>C, NM_001281771.3:c.1796G>C, NM_001281771.2:c.1796G>C, NM_001281771.1:c.1796G>C, NM_001363741.2:c.1811G>C, NM_001363741.1:c.1811G>C, NM_001363714.1:c.1892G>C, NP_036540.3:p.Ser624Thr, NP_898868.1:p.Ser624Thr, NP_898869.1:p.Ser599Thr, NP_001268702.1:p.Ser604Thr, NP_001268701.1:p.Ser604Thr, NP_001268704.1:p.Ser624Thr, NP_001268708.1:p.Ser356Thr, NP_001268703.1:p.Ser604Thr, NP_001268712.1:p.Ser624Thr, NP_001268709.1:p.Ser356Thr, NP_001268707.1:p.Ser599Thr, NP_001268706.1:p.Ser599Thr, NP_001268711.1:p.Ser599Thr, NP_001268713.1:p.Ser552Thr, NP_001268705.1:p.Ser624Thr, NP_001268710.1:p.Ser552Thr, NP_001268700.1:p.Ser599Thr, NP_001350670.1:p.Ser604Thr, NP_001350643.1:p.Ser631Thr

    2.

    rs1488012154 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      20:47239075 (GRCh38)
      20:45867819 (GRCh37)
      Canonical SPDI:
      NC_000020.11:47239074:A:G
      Gene:
      ZMYND8 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000008/2 (TOPMED)
      HGVS:
      NC_000020.11:g.47239075A>G, NC_000020.10:g.45867819A>G, NM_012408.6:c.2348T>C, NM_012408.5:c.2348T>C, NM_012408.4:c.2348T>C, NM_012408.3:c.2348T>C, NM_183047.4:c.2348T>C, NM_183047.3:c.2348T>C, NM_183047.2:c.2348T>C, NM_183047.1:c.2348T>C, NM_183048.4:c.2273T>C, NM_183048.3:c.2273T>C, NM_183048.2:c.2273T>C, NM_183048.1:c.2273T>C, NM_001281773.3:c.2288T>C, NM_001281773.2:c.2288T>C, NM_001281773.1:c.2288T>C, NM_001281772.3:c.2288T>C, NM_001281772.2:c.2288T>C, NM_001281772.1:c.2288T>C, NM_001281775.3:c.2348T>C, NM_001281775.2:c.2348T>C, NM_001281775.1:c.2348T>C, NM_001281779.3:c.1544T>C, NM_001281779.2:c.1544T>C, NM_001281779.1:c.1544T>C, NM_001281774.3:c.2288T>C, NM_001281774.2:c.2288T>C, NM_001281774.1:c.2288T>C, NM_001281783.3:c.2348T>C, NM_001281783.2:c.2348T>C, NM_001281783.1:c.2348T>C, NM_001281780.3:c.1544T>C, NM_001281780.2:c.1544T>C, NM_001281780.1:c.1544T>C, NM_001281778.3:c.2273T>C, NM_001281778.2:c.2273T>C, NM_001281778.1:c.2273T>C, NM_001281777.3:c.2273T>C, NM_001281777.2:c.2273T>C, NM_001281777.1:c.2273T>C, NM_001281782.3:c.2273T>C, NM_001281782.2:c.2273T>C, NM_001281782.1:c.2273T>C, NM_001281784.3:c.2132T>C, NM_001281784.2:c.2132T>C, NM_001281784.1:c.2132T>C, NM_001281781.3:c.2132T>C, NM_001281781.2:c.2132T>C, NM_001281781.1:c.2132T>C, NM_001363741.2:c.2288T>C, NM_001363741.1:c.2288T>C, NM_001363714.1:c.2369T>C, NP_036540.3:p.Leu783Pro, NP_898868.1:p.Leu783Pro, NP_898869.1:p.Leu758Pro, NP_001268702.1:p.Leu763Pro, NP_001268701.1:p.Leu763Pro, NP_001268704.1:p.Leu783Pro, NP_001268708.1:p.Leu515Pro, NP_001268703.1:p.Leu763Pro, NP_001268712.1:p.Leu783Pro, NP_001268709.1:p.Leu515Pro, NP_001268707.1:p.Leu758Pro, NP_001268706.1:p.Leu758Pro, NP_001268711.1:p.Leu758Pro, NP_001268713.1:p.Leu711Pro, NP_001268710.1:p.Leu711Pro, NP_001350670.1:p.Leu763Pro, NP_001350643.1:p.Leu790Pro

      3.

      rs1487749596 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        20:47246078 (GRCh38)
        20:45874822 (GRCh37)
        Canonical SPDI:
        NC_000020.11:47246077:T:C
        Gene:
        ZMYND8 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (GnomAD_exomes)
        C=0.000007/1 (GnomAD)
        HGVS:
        NC_000020.11:g.47246078T>C, NC_000020.10:g.45874822T>C, NM_012408.6:c.2214A>G, NM_012408.5:c.2214A>G, NM_012408.4:c.2214A>G, NM_012408.3:c.2214A>G, NM_183047.4:c.2214A>G, NM_183047.3:c.2214A>G, NM_183047.2:c.2214A>G, NM_183047.1:c.2214A>G, NM_183048.4:c.2139A>G, NM_183048.3:c.2139A>G, NM_183048.2:c.2139A>G, NM_183048.1:c.2139A>G, NM_001281773.3:c.2154A>G, NM_001281773.2:c.2154A>G, NM_001281773.1:c.2154A>G, NM_001281772.3:c.2154A>G, NM_001281772.2:c.2154A>G, NM_001281772.1:c.2154A>G, NM_001281775.3:c.2214A>G, NM_001281775.2:c.2214A>G, NM_001281775.1:c.2214A>G, NM_001281779.3:c.1410A>G, NM_001281779.2:c.1410A>G, NM_001281779.1:c.1410A>G, NM_001281774.3:c.2154A>G, NM_001281774.2:c.2154A>G, NM_001281774.1:c.2154A>G, NM_001281783.3:c.2214A>G, NM_001281783.2:c.2214A>G, NM_001281783.1:c.2214A>G, NM_001281780.3:c.1410A>G, NM_001281780.2:c.1410A>G, NM_001281780.1:c.1410A>G, NM_001281778.3:c.2139A>G, NM_001281778.2:c.2139A>G, NM_001281778.1:c.2139A>G, NM_001281777.3:c.2139A>G, NM_001281777.2:c.2139A>G, NM_001281777.1:c.2139A>G, NM_001281782.3:c.2139A>G, NM_001281782.2:c.2139A>G, NM_001281782.1:c.2139A>G, NM_001281784.3:c.1998A>G, NM_001281784.2:c.1998A>G, NM_001281784.1:c.1998A>G, NM_001281776.3:c.2214A>G, NM_001281776.2:c.2214A>G, NM_001281776.1:c.2214A>G, NM_001281781.3:c.1998A>G, NM_001281781.2:c.1998A>G, NM_001281781.1:c.1998A>G, NM_001281771.3:c.2139A>G, NM_001281771.2:c.2139A>G, NM_001281771.1:c.2139A>G, NM_001363741.2:c.2154A>G, NM_001363741.1:c.2154A>G, NM_001363714.1:c.2235A>G

        4.

        rs1487088006 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          20:47249435 (GRCh38)
          20:45878179 (GRCh37)
          Canonical SPDI:
          NC_000020.11:47249434:T:A
          Gene:
          ZMYND8 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          NC_000020.11:g.47249435T>A, NC_000020.10:g.45878179T>A, NM_012408.6:c.1626A>T, NM_012408.5:c.1626A>T, NM_012408.4:c.1626A>T, NM_012408.3:c.1626A>T, NM_183047.4:c.1626A>T, NM_183047.3:c.1626A>T, NM_183047.2:c.1626A>T, NM_183047.1:c.1626A>T, NM_183048.4:c.1551A>T, NM_183048.3:c.1551A>T, NM_183048.2:c.1551A>T, NM_183048.1:c.1551A>T, NM_001281773.3:c.1566A>T, NM_001281773.2:c.1566A>T, NM_001281773.1:c.1566A>T, NM_001281772.3:c.1566A>T, NM_001281772.2:c.1566A>T, NM_001281772.1:c.1566A>T, NM_001281775.3:c.1626A>T, NM_001281775.2:c.1626A>T, NM_001281775.1:c.1626A>T, NM_001281779.3:c.822A>T, NM_001281779.2:c.822A>T, NM_001281779.1:c.822A>T, NM_001281774.3:c.1566A>T, NM_001281774.2:c.1566A>T, NM_001281774.1:c.1566A>T, NM_001281783.3:c.1626A>T, NM_001281783.2:c.1626A>T, NM_001281783.1:c.1626A>T, NM_001281780.3:c.822A>T, NM_001281780.2:c.822A>T, NM_001281780.1:c.822A>T, NM_001281778.3:c.1551A>T, NM_001281778.2:c.1551A>T, NM_001281778.1:c.1551A>T, NM_001281777.3:c.1551A>T, NM_001281777.2:c.1551A>T, NM_001281777.1:c.1551A>T, NM_001281782.3:c.1551A>T, NM_001281782.2:c.1551A>T, NM_001281782.1:c.1551A>T, NM_001281784.3:c.1410A>T, NM_001281784.2:c.1410A>T, NM_001281784.1:c.1410A>T, NM_001281776.3:c.1626A>T, NM_001281776.2:c.1626A>T, NM_001281776.1:c.1626A>T, NM_001281781.3:c.1410A>T, NM_001281781.2:c.1410A>T, NM_001281781.1:c.1410A>T, NM_001281771.3:c.1551A>T, NM_001281771.2:c.1551A>T, NM_001281771.1:c.1551A>T, NM_001363741.2:c.1566A>T, NM_001363741.1:c.1566A>T, NM_001363714.1:c.1647A>T

          5.

          rs1486229649 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            20:47276534 (GRCh38)
            20:45905278 (GRCh37)
            Canonical SPDI:
            NC_000020.11:47276533:G:T
            Gene:
            ZMYND8 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency,by cluster
            MAF:
            T=0.000007/1 (GnomAD)
            HGVS:
            NC_000020.11:g.47276534G>T, NC_000020.10:g.45905278G>T, NM_012408.6:c.1260C>A, NM_012408.5:c.1260C>A, NM_012408.4:c.1260C>A, NM_012408.3:c.1260C>A, NM_183047.4:c.1260C>A, NM_183047.3:c.1260C>A, NM_183047.2:c.1260C>A, NM_183047.1:c.1260C>A, NM_183048.4:c.1185C>A, NM_183048.3:c.1185C>A, NM_183048.2:c.1185C>A, NM_183048.1:c.1185C>A, NM_001281773.3:c.1200C>A, NM_001281773.2:c.1200C>A, NM_001281773.1:c.1200C>A, NM_001281772.3:c.1200C>A, NM_001281772.2:c.1200C>A, NM_001281772.1:c.1200C>A, NM_001281775.3:c.1260C>A, NM_001281775.2:c.1260C>A, NM_001281775.1:c.1260C>A, NM_001281779.3:c.456C>A, NM_001281779.2:c.456C>A, NM_001281779.1:c.456C>A, NM_001281774.3:c.1200C>A, NM_001281774.2:c.1200C>A, NM_001281774.1:c.1200C>A, NM_001281783.3:c.1260C>A, NM_001281783.2:c.1260C>A, NM_001281783.1:c.1260C>A, NM_001281780.3:c.456C>A, NM_001281780.2:c.456C>A, NM_001281780.1:c.456C>A, NM_001281778.3:c.1185C>A, NM_001281778.2:c.1185C>A, NM_001281778.1:c.1185C>A, NM_001281777.3:c.1185C>A, NM_001281777.2:c.1185C>A, NM_001281777.1:c.1185C>A, NM_001281782.3:c.1185C>A, NM_001281782.2:c.1185C>A, NM_001281782.1:c.1185C>A, NM_001281784.3:c.1185C>A, NM_001281784.2:c.1185C>A, NM_001281784.1:c.1185C>A, NM_001281776.3:c.1260C>A, NM_001281776.2:c.1260C>A, NM_001281776.1:c.1260C>A, NM_001281781.3:c.1185C>A, NM_001281781.2:c.1185C>A, NM_001281781.1:c.1185C>A, NM_001281771.3:c.1185C>A, NM_001281771.2:c.1185C>A, NM_001281771.1:c.1185C>A, NM_001363741.2:c.1200C>A, NM_001363741.1:c.1200C>A, NM_001363714.1:c.1281C>A, NP_036540.3:p.Asn420Lys, NP_898868.1:p.Asn420Lys, NP_898869.1:p.Asn395Lys, NP_001268702.1:p.Asn400Lys, NP_001268701.1:p.Asn400Lys, NP_001268704.1:p.Asn420Lys, NP_001268708.1:p.Asn152Lys, NP_001268703.1:p.Asn400Lys, NP_001268712.1:p.Asn420Lys, NP_001268709.1:p.Asn152Lys, NP_001268707.1:p.Asn395Lys, NP_001268706.1:p.Asn395Lys, NP_001268711.1:p.Asn395Lys, NP_001268713.1:p.Asn395Lys, NP_001268705.1:p.Asn420Lys, NP_001268710.1:p.Asn395Lys, NP_001268700.1:p.Asn395Lys, NP_001350670.1:p.Asn400Lys, NP_001350643.1:p.Asn427Lys

            6.

            rs1482868691 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              20:47294755 (GRCh38)
              20:45923499 (GRCh37)
              Canonical SPDI:
              NC_000020.11:47294754:C:T
              Gene:
              ZMYND8 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
              Validated:
              by frequency,by cluster
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              T=0.000007/1 (GnomAD)
              HGVS:
              NC_000020.11:g.47294755C>T, NC_000020.10:g.45923499C>T, NM_012408.6:c.478G>A, NM_012408.5:c.478G>A, NM_012408.4:c.478G>A, NM_012408.3:c.478G>A, NM_183047.4:c.478G>A, NM_183047.3:c.478G>A, NM_183047.2:c.478G>A, NM_183047.1:c.478G>A, NM_183048.4:c.403G>A, NM_183048.3:c.403G>A, NM_183048.2:c.403G>A, NM_183048.1:c.403G>A, NM_001281773.3:c.418G>A, NM_001281773.2:c.418G>A, NM_001281773.1:c.418G>A, NM_001281772.3:c.418G>A, NM_001281772.2:c.418G>A, NM_001281772.1:c.418G>A, NM_001281775.3:c.478G>A, NM_001281775.2:c.478G>A, NM_001281775.1:c.478G>A, NM_001281779.3:c.-458G>A, NM_001281779.2:c.-458G>A, NM_001281779.1:c.-458G>A, NM_001281774.3:c.418G>A, NM_001281774.2:c.418G>A, NM_001281774.1:c.418G>A, NM_001281783.3:c.478G>A, NM_001281783.2:c.478G>A, NM_001281783.1:c.478G>A, NM_001281780.3:c.-458G>A, NM_001281780.2:c.-458G>A, NM_001281780.1:c.-458G>A, NM_001281778.3:c.403G>A, NM_001281778.2:c.403G>A, NM_001281778.1:c.403G>A, NM_001281777.3:c.403G>A, NM_001281777.2:c.403G>A, NM_001281777.1:c.403G>A, NM_001281782.3:c.403G>A, NM_001281782.2:c.403G>A, NM_001281782.1:c.403G>A, NM_001281784.3:c.403G>A, NM_001281784.2:c.403G>A, NM_001281784.1:c.403G>A, NM_001281776.3:c.478G>A, NM_001281776.2:c.478G>A, NM_001281776.1:c.478G>A, NM_001281781.3:c.403G>A, NM_001281781.2:c.403G>A, NM_001281781.1:c.403G>A, NM_001281771.3:c.403G>A, NM_001281771.2:c.403G>A, NM_001281771.1:c.403G>A, NM_001363741.2:c.418G>A, NM_001363741.1:c.418G>A, NM_001363714.1:c.499G>A, NP_036540.3:p.Glu160Lys, NP_898868.1:p.Glu160Lys, NP_898869.1:p.Glu135Lys, NP_001268702.1:p.Glu140Lys, NP_001268701.1:p.Glu140Lys, NP_001268704.1:p.Glu160Lys, NP_001268703.1:p.Glu140Lys, NP_001268712.1:p.Glu160Lys, NP_001268707.1:p.Glu135Lys, NP_001268706.1:p.Glu135Lys, NP_001268711.1:p.Glu135Lys, NP_001268713.1:p.Glu135Lys, NP_001268705.1:p.Glu160Lys, NP_001268710.1:p.Glu135Lys, NP_001268700.1:p.Glu135Lys, NP_001350670.1:p.Glu140Lys, NP_001350643.1:p.Glu167Lys

              7.

              rs1481763775 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                20:47221446 (GRCh38)
                20:45850097 (GRCh37)
                Canonical SPDI:
                NC_000020.11:47221445:A:G
                Gene:
                ZMYND8 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000020.11:g.47221446A>G, NC_000020.10:g.45850097A>G, NM_012408.6:c.3147T>C, NM_012408.5:c.3147T>C, NM_012408.4:c.3147T>C, NM_012408.3:c.3147T>C, NM_183047.4:c.3147T>C, NM_183047.3:c.3147T>C, NM_183047.2:c.3147T>C, NM_183047.1:c.3147T>C, NM_183048.4:c.3072T>C, NM_183048.3:c.3072T>C, NM_183048.2:c.3072T>C, NM_183048.1:c.3072T>C, NM_001281773.3:c.3225T>C, NM_001281773.2:c.3225T>C, NM_001281773.1:c.3225T>C, NM_001281772.3:c.3225T>C, NM_001281772.2:c.3225T>C, NM_001281772.1:c.3225T>C, NM_001281775.3:c.3285T>C, NM_001281775.2:c.3285T>C, NM_001281775.1:c.3285T>C, NM_001281779.3:c.2343T>C, NM_001281779.2:c.2343T>C, NM_001281779.1:c.2343T>C, NM_001281774.3:c.3087T>C, NM_001281774.2:c.3087T>C, NM_001281774.1:c.3087T>C, NM_001281783.3:c.3285T>C, NM_001281783.2:c.3285T>C, NM_001281783.1:c.3285T>C, NM_001281780.3:c.2343T>C, NM_001281780.2:c.2343T>C, NM_001281780.1:c.2343T>C, NM_001281778.3:c.3210T>C, NM_001281778.2:c.3210T>C, NM_001281778.1:c.3210T>C, NM_001281777.3:c.3072T>C, NM_001281777.2:c.3072T>C, NM_001281777.1:c.3072T>C, NM_001281782.3:c.2991T>C, NM_001281782.2:c.2991T>C, NM_001281782.1:c.2991T>C, NM_001281784.3:c.3069T>C, NM_001281784.2:c.3069T>C, NM_001281784.1:c.3069T>C, NM_001281776.3:c.2904T>C, NM_001281776.2:c.2904T>C, NM_001281776.1:c.2904T>C, NM_001281781.3:c.2931T>C, NM_001281781.2:c.2931T>C, NM_001281781.1:c.2931T>C, NM_001281771.3:c.2829T>C, NM_001281771.2:c.2829T>C, NM_001281771.1:c.2829T>C, NM_001363741.2:c.3225T>C, NM_001363741.1:c.3225T>C, NM_001363714.1:c.3306T>C

                8.

                rs1480961138 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C,G [Show Flanks]
                  Chromosome:
                  20:47262369 (GRCh38)
                  20:45891113 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:47262368:A:C,NC_000020.11:47262368:A:G
                  Gene:
                  ZMYND8 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (GnomAD_exomes)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000020.11:g.47262369A>C, NC_000020.11:g.47262369A>G, NC_000020.10:g.45891113A>C, NC_000020.10:g.45891113A>G, NM_012408.6:c.1540T>G, NM_012408.6:c.1540T>C, NM_012408.5:c.1540T>G, NM_012408.5:c.1540T>C, NM_012408.4:c.1540T>G, NM_012408.4:c.1540T>C, NM_012408.3:c.1540T>G, NM_012408.3:c.1540T>C, NM_183047.4:c.1540T>G, NM_183047.4:c.1540T>C, NM_183047.3:c.1540T>G, NM_183047.3:c.1540T>C, NM_183047.2:c.1540T>G, NM_183047.2:c.1540T>C, NM_183047.1:c.1540T>G, NM_183047.1:c.1540T>C, NM_183048.4:c.1465T>G, NM_183048.4:c.1465T>C, NM_183048.3:c.1465T>G, NM_183048.3:c.1465T>C, NM_183048.2:c.1465T>G, NM_183048.2:c.1465T>C, NM_183048.1:c.1465T>G, NM_183048.1:c.1465T>C, NM_001281773.3:c.1480T>G, NM_001281773.3:c.1480T>C, NM_001281773.2:c.1480T>G, NM_001281773.2:c.1480T>C, NM_001281773.1:c.1480T>G, NM_001281773.1:c.1480T>C, NM_001281772.3:c.1480T>G, NM_001281772.3:c.1480T>C, NM_001281772.2:c.1480T>G, NM_001281772.2:c.1480T>C, NM_001281772.1:c.1480T>G, NM_001281772.1:c.1480T>C, NM_001281775.3:c.1540T>G, NM_001281775.3:c.1540T>C, NM_001281775.2:c.1540T>G, NM_001281775.2:c.1540T>C, NM_001281775.1:c.1540T>G, NM_001281775.1:c.1540T>C, NM_001281779.3:c.736T>G, NM_001281779.3:c.736T>C, NM_001281779.2:c.736T>G, NM_001281779.2:c.736T>C, NM_001281779.1:c.736T>G, NM_001281779.1:c.736T>C, NM_001281774.3:c.1480T>G, NM_001281774.3:c.1480T>C, NM_001281774.2:c.1480T>G, NM_001281774.2:c.1480T>C, NM_001281774.1:c.1480T>G, NM_001281774.1:c.1480T>C, NM_001281783.3:c.1540T>G, NM_001281783.3:c.1540T>C, NM_001281783.2:c.1540T>G, NM_001281783.2:c.1540T>C, NM_001281783.1:c.1540T>G, NM_001281783.1:c.1540T>C, NM_001281780.3:c.736T>G, NM_001281780.3:c.736T>C, NM_001281780.2:c.736T>G, NM_001281780.2:c.736T>C, NM_001281780.1:c.736T>G, NM_001281780.1:c.736T>C, NM_001281778.3:c.1465T>G, NM_001281778.3:c.1465T>C, NM_001281778.2:c.1465T>G, NM_001281778.2:c.1465T>C, NM_001281778.1:c.1465T>G, NM_001281778.1:c.1465T>C, NM_001281777.3:c.1465T>G, NM_001281777.3:c.1465T>C, NM_001281777.2:c.1465T>G, NM_001281777.2:c.1465T>C, NM_001281777.1:c.1465T>G, NM_001281777.1:c.1465T>C, NM_001281782.3:c.1465T>G, NM_001281782.3:c.1465T>C, NM_001281782.2:c.1465T>G, NM_001281782.2:c.1465T>C, NM_001281782.1:c.1465T>G, NM_001281782.1:c.1465T>C, NM_001281776.3:c.1540T>G, NM_001281776.3:c.1540T>C, NM_001281776.2:c.1540T>G, NM_001281776.2:c.1540T>C, NM_001281776.1:c.1540T>G, NM_001281776.1:c.1540T>C, NM_001281771.3:c.1465T>G, NM_001281771.3:c.1465T>C, NM_001281771.2:c.1465T>G, NM_001281771.2:c.1465T>C, NM_001281771.1:c.1465T>G, NM_001281771.1:c.1465T>C, NM_001363741.2:c.1480T>G, NM_001363741.2:c.1480T>C, NM_001363741.1:c.1480T>G, NM_001363741.1:c.1480T>C, NM_001363714.1:c.1561T>G, NM_001363714.1:c.1561T>C, NP_036540.3:p.Phe514Val, NP_036540.3:p.Phe514Leu, NP_898868.1:p.Phe514Val, NP_898868.1:p.Phe514Leu, NP_898869.1:p.Phe489Val, NP_898869.1:p.Phe489Leu, NP_001268702.1:p.Phe494Val, NP_001268702.1:p.Phe494Leu, NP_001268701.1:p.Phe494Val, NP_001268701.1:p.Phe494Leu, NP_001268704.1:p.Phe514Val, NP_001268704.1:p.Phe514Leu, NP_001268708.1:p.Phe246Val, NP_001268708.1:p.Phe246Leu, NP_001268703.1:p.Phe494Val, NP_001268703.1:p.Phe494Leu, NP_001268712.1:p.Phe514Val, NP_001268712.1:p.Phe514Leu, NP_001268709.1:p.Phe246Val, NP_001268709.1:p.Phe246Leu, NP_001268707.1:p.Phe489Val, NP_001268707.1:p.Phe489Leu, NP_001268706.1:p.Phe489Val, NP_001268706.1:p.Phe489Leu, NP_001268711.1:p.Phe489Val, NP_001268711.1:p.Phe489Leu, NP_001268705.1:p.Phe514Val, NP_001268705.1:p.Phe514Leu, NP_001268700.1:p.Phe489Val, NP_001268700.1:p.Phe489Leu, NP_001350670.1:p.Phe494Val, NP_001350670.1:p.Phe494Leu, NP_001350643.1:p.Phe521Val, NP_001350643.1:p.Phe521Leu

                  9.

                  rs1480312744 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    20:47282206 (GRCh38)
                    20:45910950 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:47282205:A:G
                    Gene:
                    ZMYND8 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (GnomAD_exomes)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000020.11:g.47282206A>G, NC_000020.10:g.45910950A>G, NM_012408.6:c.894T>C, NM_012408.5:c.894T>C, NM_012408.4:c.894T>C, NM_012408.3:c.894T>C, NM_183047.4:c.894T>C, NM_183047.3:c.894T>C, NM_183047.2:c.894T>C, NM_183047.1:c.894T>C, NM_183048.4:c.819T>C, NM_183048.3:c.819T>C, NM_183048.2:c.819T>C, NM_183048.1:c.819T>C, NM_001281773.3:c.834T>C, NM_001281773.2:c.834T>C, NM_001281773.1:c.834T>C, NM_001281772.3:c.834T>C, NM_001281772.2:c.834T>C, NM_001281772.1:c.834T>C, NM_001281775.3:c.894T>C, NM_001281775.2:c.894T>C, NM_001281775.1:c.894T>C, NM_001281779.3:c.90T>C, NM_001281779.2:c.90T>C, NM_001281779.1:c.90T>C, NM_001281774.3:c.834T>C, NM_001281774.2:c.834T>C, NM_001281774.1:c.834T>C, NM_001281783.3:c.894T>C, NM_001281783.2:c.894T>C, NM_001281783.1:c.894T>C, NM_001281780.3:c.90T>C, NM_001281780.2:c.90T>C, NM_001281780.1:c.90T>C, NM_001281778.3:c.819T>C, NM_001281778.2:c.819T>C, NM_001281778.1:c.819T>C, NM_001281777.3:c.819T>C, NM_001281777.2:c.819T>C, NM_001281777.1:c.819T>C, NM_001281782.3:c.819T>C, NM_001281782.2:c.819T>C, NM_001281782.1:c.819T>C, NM_001281784.3:c.819T>C, NM_001281784.2:c.819T>C, NM_001281784.1:c.819T>C, NM_001281776.3:c.894T>C, NM_001281776.2:c.894T>C, NM_001281776.1:c.894T>C, NM_001281781.3:c.819T>C, NM_001281781.2:c.819T>C, NM_001281781.1:c.819T>C, NM_001281771.3:c.819T>C, NM_001281771.2:c.819T>C, NM_001281771.1:c.819T>C, NM_001363741.2:c.834T>C, NM_001363741.1:c.834T>C, NM_001363714.1:c.915T>C

                    10.

                    rs1478846759 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      20:47283597 (GRCh38)
                      20:45912341 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:47283596:G:A
                      Gene:
                      ZMYND8 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,coding_sequence_variant,stop_gained
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000020.11:g.47283597G>A, NC_000020.10:g.45912341G>A, NM_012408.6:c.856C>T, NM_012408.5:c.856C>T, NM_012408.4:c.856C>T, NM_012408.3:c.856C>T, NM_183047.4:c.856C>T, NM_183047.3:c.856C>T, NM_183047.2:c.856C>T, NM_183047.1:c.856C>T, NM_183048.4:c.781C>T, NM_183048.3:c.781C>T, NM_183048.2:c.781C>T, NM_183048.1:c.781C>T, NM_001281773.3:c.796C>T, NM_001281773.2:c.796C>T, NM_001281773.1:c.796C>T, NM_001281772.3:c.796C>T, NM_001281772.2:c.796C>T, NM_001281772.1:c.796C>T, NM_001281775.3:c.856C>T, NM_001281775.2:c.856C>T, NM_001281775.1:c.856C>T, NM_001281779.3:c.52C>T, NM_001281779.2:c.52C>T, NM_001281779.1:c.52C>T, NM_001281774.3:c.796C>T, NM_001281774.2:c.796C>T, NM_001281774.1:c.796C>T, NM_001281783.3:c.856C>T, NM_001281783.2:c.856C>T, NM_001281783.1:c.856C>T, NM_001281780.3:c.52C>T, NM_001281780.2:c.52C>T, NM_001281780.1:c.52C>T, NM_001281778.3:c.781C>T, NM_001281778.2:c.781C>T, NM_001281778.1:c.781C>T, NM_001281777.3:c.781C>T, NM_001281777.2:c.781C>T, NM_001281777.1:c.781C>T, NM_001281782.3:c.781C>T, NM_001281782.2:c.781C>T, NM_001281782.1:c.781C>T, NM_001281784.3:c.781C>T, NM_001281784.2:c.781C>T, NM_001281784.1:c.781C>T, NM_001281776.3:c.856C>T, NM_001281776.2:c.856C>T, NM_001281776.1:c.856C>T, NM_001281781.3:c.781C>T, NM_001281781.2:c.781C>T, NM_001281781.1:c.781C>T, NM_001281771.3:c.781C>T, NM_001281771.2:c.781C>T, NM_001281771.1:c.781C>T, NM_001363741.2:c.796C>T, NM_001363741.1:c.796C>T, NM_001363714.1:c.877C>T, NP_036540.3:p.Arg286Ter, NP_898868.1:p.Arg286Ter, NP_898869.1:p.Arg261Ter, NP_001268702.1:p.Arg266Ter, NP_001268701.1:p.Arg266Ter, NP_001268704.1:p.Arg286Ter, NP_001268708.1:p.Arg18Ter, NP_001268703.1:p.Arg266Ter, NP_001268712.1:p.Arg286Ter, NP_001268709.1:p.Arg18Ter, NP_001268707.1:p.Arg261Ter, NP_001268706.1:p.Arg261Ter, NP_001268711.1:p.Arg261Ter, NP_001268713.1:p.Arg261Ter, NP_001268705.1:p.Arg286Ter, NP_001268710.1:p.Arg261Ter, NP_001268700.1:p.Arg261Ter, NP_001350670.1:p.Arg266Ter, NP_001350643.1:p.Arg293Ter

                      11.

                      rs1477884036 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        20:47246106 (GRCh38)
                        20:45874850 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:47246105:G:A
                        Gene:
                        ZMYND8 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000020.11:g.47246106G>A, NC_000020.10:g.45874850G>A, NM_012408.6:c.2186C>T, NM_012408.5:c.2186C>T, NM_012408.4:c.2186C>T, NM_012408.3:c.2186C>T, NM_183047.4:c.2186C>T, NM_183047.3:c.2186C>T, NM_183047.2:c.2186C>T, NM_183047.1:c.2186C>T, NM_183048.4:c.2111C>T, NM_183048.3:c.2111C>T, NM_183048.2:c.2111C>T, NM_183048.1:c.2111C>T, NM_001281773.3:c.2126C>T, NM_001281773.2:c.2126C>T, NM_001281773.1:c.2126C>T, NM_001281772.3:c.2126C>T, NM_001281772.2:c.2126C>T, NM_001281772.1:c.2126C>T, NM_001281775.3:c.2186C>T, NM_001281775.2:c.2186C>T, NM_001281775.1:c.2186C>T, NM_001281779.3:c.1382C>T, NM_001281779.2:c.1382C>T, NM_001281779.1:c.1382C>T, NM_001281774.3:c.2126C>T, NM_001281774.2:c.2126C>T, NM_001281774.1:c.2126C>T, NM_001281783.3:c.2186C>T, NM_001281783.2:c.2186C>T, NM_001281783.1:c.2186C>T, NM_001281780.3:c.1382C>T, NM_001281780.2:c.1382C>T, NM_001281780.1:c.1382C>T, NM_001281778.3:c.2111C>T, NM_001281778.2:c.2111C>T, NM_001281778.1:c.2111C>T, NM_001281777.3:c.2111C>T, NM_001281777.2:c.2111C>T, NM_001281777.1:c.2111C>T, NM_001281782.3:c.2111C>T, NM_001281782.2:c.2111C>T, NM_001281782.1:c.2111C>T, NM_001281784.3:c.1970C>T, NM_001281784.2:c.1970C>T, NM_001281784.1:c.1970C>T, NM_001281776.3:c.2186C>T, NM_001281776.2:c.2186C>T, NM_001281776.1:c.2186C>T, NM_001281781.3:c.1970C>T, NM_001281781.2:c.1970C>T, NM_001281781.1:c.1970C>T, NM_001281771.3:c.2111C>T, NM_001281771.2:c.2111C>T, NM_001281771.1:c.2111C>T, NM_001363741.2:c.2126C>T, NM_001363741.1:c.2126C>T, NM_001363714.1:c.2207C>T, NP_036540.3:p.Ser729Leu, NP_898868.1:p.Ser729Leu, NP_898869.1:p.Ser704Leu, NP_001268702.1:p.Ser709Leu, NP_001268701.1:p.Ser709Leu, NP_001268704.1:p.Ser729Leu, NP_001268708.1:p.Ser461Leu, NP_001268703.1:p.Ser709Leu, NP_001268712.1:p.Ser729Leu, NP_001268709.1:p.Ser461Leu, NP_001268707.1:p.Ser704Leu, NP_001268706.1:p.Ser704Leu, NP_001268711.1:p.Ser704Leu, NP_001268713.1:p.Ser657Leu, NP_001268705.1:p.Ser729Leu, NP_001268710.1:p.Ser657Leu, NP_001268700.1:p.Ser704Leu, NP_001350670.1:p.Ser709Leu, NP_001350643.1:p.Ser736Leu

                        12.

                        rs1477493701 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          GTCCATCC>- [Show Flanks]
                          Chromosome:
                          20:47298866 (GRCh38)
                          20:45927610 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:47298862:TCCGTCCATCC:TCC
                          Gene:
                          ZMYND8 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,5_prime_UTR_variant,splice_acceptor_variant,frameshift_variant
                          Validated:
                          by frequency
                          MAF:
                          -=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000020.11:g.47298866_47298873del, NC_000020.10:g.45927610_45927617del, NM_012408.6:c.312_319del, NM_012408.5:c.312_319del, NM_012408.4:c.312_319del, NM_012408.3:c.312_319del, NM_183047.4:c.312_319del, NM_183047.3:c.312_319del, NM_183047.2:c.312_319del, NM_183047.1:c.312_319del, NM_001281773.3:c.252_259del, NM_001281773.2:c.252_259del, NM_001281773.1:c.252_259del, NM_001281775.3:c.312_319del, NM_001281775.2:c.312_319del, NM_001281775.1:c.312_319del, NM_001281779.3:c.-624_-617del, NM_001281779.2:c.-624_-617del, NM_001281779.1:c.-624_-617del, NM_001281774.3:c.252_259del, NM_001281774.2:c.252_259del, NM_001281774.1:c.252_259del, NM_001281783.3:c.312_319del, NM_001281783.2:c.312_319del, NM_001281783.1:c.312_319del, NM_001281780.3:c.-624_-617del, NM_001281780.2:c.-624_-617del, NM_001281780.1:c.-624_-617del, NM_001281776.3:c.312_319del, NM_001281776.2:c.312_319del, NM_001281776.1:c.312_319del, NM_001363741.2:c.252_259del, NM_001363741.1:c.252_259del, NM_001281769.2:c.312_319del, NM_001281769.1:c.312_319del, NM_001363714.1:c.333_340del, NP_036540.3:p.Asp104fs, NP_898868.1:p.Asp104fs, NP_001268702.1:p.Asp84fs, NP_001268704.1:p.Asp104fs, NP_001268703.1:p.Asp84fs, NP_001268712.1:p.Asp104fs, NP_001268705.1:p.Asp104fs, NP_001350670.1:p.Asp84fs, NP_001268698.1:p.Asp104fs, NP_001350643.1:p.Asp111fs

                          13.

                          rs1476001176 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            20:47246049 (GRCh38)
                            20:45874793 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:47246048:T:A
                            Gene:
                            ZMYND8 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0./0 (GnomAD)
                            HGVS:
                            NC_000020.11:g.47246049T>A, NC_000020.10:g.45874793T>A, NM_012408.6:c.2243A>T, NM_012408.5:c.2243A>T, NM_012408.4:c.2243A>T, NM_012408.3:c.2243A>T, NM_183047.4:c.2243A>T, NM_183047.3:c.2243A>T, NM_183047.2:c.2243A>T, NM_183047.1:c.2243A>T, NM_183048.4:c.2168A>T, NM_183048.3:c.2168A>T, NM_183048.2:c.2168A>T, NM_183048.1:c.2168A>T, NM_001281773.3:c.2183A>T, NM_001281773.2:c.2183A>T, NM_001281773.1:c.2183A>T, NM_001281772.3:c.2183A>T, NM_001281772.2:c.2183A>T, NM_001281772.1:c.2183A>T, NM_001281775.3:c.2243A>T, NM_001281775.2:c.2243A>T, NM_001281775.1:c.2243A>T, NM_001281779.3:c.1439A>T, NM_001281779.2:c.1439A>T, NM_001281779.1:c.1439A>T, NM_001281774.3:c.2183A>T, NM_001281774.2:c.2183A>T, NM_001281774.1:c.2183A>T, NM_001281783.3:c.2243A>T, NM_001281783.2:c.2243A>T, NM_001281783.1:c.2243A>T, NM_001281780.3:c.1439A>T, NM_001281780.2:c.1439A>T, NM_001281780.1:c.1439A>T, NM_001281778.3:c.2168A>T, NM_001281778.2:c.2168A>T, NM_001281778.1:c.2168A>T, NM_001281777.3:c.2168A>T, NM_001281777.2:c.2168A>T, NM_001281777.1:c.2168A>T, NM_001281782.3:c.2168A>T, NM_001281782.2:c.2168A>T, NM_001281782.1:c.2168A>T, NM_001281784.3:c.2027A>T, NM_001281784.2:c.2027A>T, NM_001281784.1:c.2027A>T, NM_001281776.3:c.2243A>T, NM_001281776.2:c.2243A>T, NM_001281776.1:c.2243A>T, NM_001281781.3:c.2027A>T, NM_001281781.2:c.2027A>T, NM_001281781.1:c.2027A>T, NM_001281771.3:c.2168A>T, NM_001281771.2:c.2168A>T, NM_001281771.1:c.2168A>T, NM_001363741.2:c.2183A>T, NM_001363741.1:c.2183A>T, NM_001363714.1:c.2264A>T, NP_036540.3:p.Lys748Ile, NP_898868.1:p.Lys748Ile, NP_898869.1:p.Lys723Ile, NP_001268702.1:p.Lys728Ile, NP_001268701.1:p.Lys728Ile, NP_001268704.1:p.Lys748Ile, NP_001268708.1:p.Lys480Ile, NP_001268703.1:p.Lys728Ile, NP_001268712.1:p.Lys748Ile, NP_001268709.1:p.Lys480Ile, NP_001268707.1:p.Lys723Ile, NP_001268706.1:p.Lys723Ile, NP_001268711.1:p.Lys723Ile, NP_001268713.1:p.Lys676Ile, NP_001268705.1:p.Lys748Ile, NP_001268710.1:p.Lys676Ile, NP_001268700.1:p.Lys723Ile, NP_001350670.1:p.Lys728Ile, NP_001350643.1:p.Lys755Ile

                            14.

                            rs1472248087 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              20:47262303 (GRCh38)
                              20:45891047 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:47262302:G:A
                              Gene:
                              ZMYND8 (Varview)
                              Functional Consequence:
                              intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000020.11:g.47262303G>A, NC_000020.10:g.45891047G>A, NM_012408.6:c.1606C>T, NM_012408.5:c.1606C>T, NM_012408.4:c.1606C>T, NM_012408.3:c.1606C>T, NM_183047.4:c.1606C>T, NM_183047.3:c.1606C>T, NM_183047.2:c.1606C>T, NM_183047.1:c.1606C>T, NM_183048.4:c.1531C>T, NM_183048.3:c.1531C>T, NM_183048.2:c.1531C>T, NM_183048.1:c.1531C>T, NM_001281773.3:c.1546C>T, NM_001281773.2:c.1546C>T, NM_001281773.1:c.1546C>T, NM_001281772.3:c.1546C>T, NM_001281772.2:c.1546C>T, NM_001281772.1:c.1546C>T, NM_001281775.3:c.1606C>T, NM_001281775.2:c.1606C>T, NM_001281775.1:c.1606C>T, NM_001281779.3:c.802C>T, NM_001281779.2:c.802C>T, NM_001281779.1:c.802C>T, NM_001281774.3:c.1546C>T, NM_001281774.2:c.1546C>T, NM_001281774.1:c.1546C>T, NM_001281783.3:c.1606C>T, NM_001281783.2:c.1606C>T, NM_001281783.1:c.1606C>T, NM_001281780.3:c.802C>T, NM_001281780.2:c.802C>T, NM_001281780.1:c.802C>T, NM_001281778.3:c.1531C>T, NM_001281778.2:c.1531C>T, NM_001281778.1:c.1531C>T, NM_001281777.3:c.1531C>T, NM_001281777.2:c.1531C>T, NM_001281777.1:c.1531C>T, NM_001281782.3:c.1531C>T, NM_001281782.2:c.1531C>T, NM_001281782.1:c.1531C>T, NM_001281776.3:c.1606C>T, NM_001281776.2:c.1606C>T, NM_001281776.1:c.1606C>T, NM_001281771.3:c.1531C>T, NM_001281771.2:c.1531C>T, NM_001281771.1:c.1531C>T, NM_001363741.2:c.1546C>T, NM_001363741.1:c.1546C>T, NM_001363714.1:c.1627C>T

                              15.

                              rs1470586128 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                20:47246185 (GRCh38)
                                20:45874929 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:47246184:G:A
                                Gene:
                                ZMYND8 (Varview)
                                Functional Consequence:
                                missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000020.11:g.47246185G>A, NC_000020.10:g.45874929G>A, NM_012408.6:c.2107C>T, NM_012408.5:c.2107C>T, NM_012408.4:c.2107C>T, NM_012408.3:c.2107C>T, NM_183047.4:c.2107C>T, NM_183047.3:c.2107C>T, NM_183047.2:c.2107C>T, NM_183047.1:c.2107C>T, NM_183048.4:c.2032C>T, NM_183048.3:c.2032C>T, NM_183048.2:c.2032C>T, NM_183048.1:c.2032C>T, NM_001281773.3:c.2047C>T, NM_001281773.2:c.2047C>T, NM_001281773.1:c.2047C>T, NM_001281772.3:c.2047C>T, NM_001281772.2:c.2047C>T, NM_001281772.1:c.2047C>T, NM_001281775.3:c.2107C>T, NM_001281775.2:c.2107C>T, NM_001281775.1:c.2107C>T, NM_001281779.3:c.1303C>T, NM_001281779.2:c.1303C>T, NM_001281779.1:c.1303C>T, NM_001281774.3:c.2047C>T, NM_001281774.2:c.2047C>T, NM_001281774.1:c.2047C>T, NM_001281783.3:c.2107C>T, NM_001281783.2:c.2107C>T, NM_001281783.1:c.2107C>T, NM_001281780.3:c.1303C>T, NM_001281780.2:c.1303C>T, NM_001281780.1:c.1303C>T, NM_001281778.3:c.2032C>T, NM_001281778.2:c.2032C>T, NM_001281778.1:c.2032C>T, NM_001281777.3:c.2032C>T, NM_001281777.2:c.2032C>T, NM_001281777.1:c.2032C>T, NM_001281782.3:c.2032C>T, NM_001281782.2:c.2032C>T, NM_001281782.1:c.2032C>T, NM_001281784.3:c.1891C>T, NM_001281784.2:c.1891C>T, NM_001281784.1:c.1891C>T, NM_001281776.3:c.2107C>T, NM_001281776.2:c.2107C>T, NM_001281776.1:c.2107C>T, NM_001281781.3:c.1891C>T, NM_001281781.2:c.1891C>T, NM_001281781.1:c.1891C>T, NM_001281771.3:c.2032C>T, NM_001281771.2:c.2032C>T, NM_001281771.1:c.2032C>T, NM_001363741.2:c.2047C>T, NM_001363741.1:c.2047C>T, NM_001363714.1:c.2128C>T, NP_036540.3:p.Pro703Ser, NP_898868.1:p.Pro703Ser, NP_898869.1:p.Pro678Ser, NP_001268702.1:p.Pro683Ser, NP_001268701.1:p.Pro683Ser, NP_001268704.1:p.Pro703Ser, NP_001268708.1:p.Pro435Ser, NP_001268703.1:p.Pro683Ser, NP_001268712.1:p.Pro703Ser, NP_001268709.1:p.Pro435Ser, NP_001268707.1:p.Pro678Ser, NP_001268706.1:p.Pro678Ser, NP_001268711.1:p.Pro678Ser, NP_001268713.1:p.Pro631Ser, NP_001268705.1:p.Pro703Ser, NP_001268710.1:p.Pro631Ser, NP_001268700.1:p.Pro678Ser, NP_001350670.1:p.Pro683Ser, NP_001350643.1:p.Pro710Ser

                                16.

                                rs1464803038 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  20:47236505 (GRCh38)
                                  20:45865249 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:47236504:T:C
                                  Gene:
                                  ZMYND8 (Varview)
                                  Functional Consequence:
                                  missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000005/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000020.11:g.47236505T>C, NC_000020.10:g.45865249T>C, NM_012408.6:c.2539A>G, NM_012408.5:c.2539A>G, NM_012408.4:c.2539A>G, NM_012408.3:c.2539A>G, NM_183047.4:c.2539A>G, NM_183047.3:c.2539A>G, NM_183047.2:c.2539A>G, NM_183047.1:c.2539A>G, NM_183048.4:c.2464A>G, NM_183048.3:c.2464A>G, NM_183048.2:c.2464A>G, NM_183048.1:c.2464A>G, NM_001281773.3:c.2617A>G, NM_001281773.2:c.2617A>G, NM_001281773.1:c.2617A>G, NM_001281772.3:c.2617A>G, NM_001281772.2:c.2617A>G, NM_001281772.1:c.2617A>G, NM_001281775.3:c.2677A>G, NM_001281775.2:c.2677A>G, NM_001281775.1:c.2677A>G, NM_001281779.3:c.1735A>G, NM_001281779.2:c.1735A>G, NM_001281779.1:c.1735A>G, NM_001281774.3:c.2479A>G, NM_001281774.2:c.2479A>G, NM_001281774.1:c.2479A>G, NM_001281783.3:c.2677A>G, NM_001281783.2:c.2677A>G, NM_001281783.1:c.2677A>G, NM_001281780.3:c.1735A>G, NM_001281780.2:c.1735A>G, NM_001281780.1:c.1735A>G, NM_001281778.3:c.2602A>G, NM_001281778.2:c.2602A>G, NM_001281778.1:c.2602A>G, NM_001281777.3:c.2464A>G, NM_001281777.2:c.2464A>G, NM_001281777.1:c.2464A>G, NM_001281782.3:c.2464A>G, NM_001281782.2:c.2464A>G, NM_001281782.1:c.2464A>G, NM_001281784.3:c.2461A>G, NM_001281784.2:c.2461A>G, NM_001281784.1:c.2461A>G, NM_001281776.3:c.2296A>G, NM_001281776.2:c.2296A>G, NM_001281776.1:c.2296A>G, NM_001281781.3:c.2323A>G, NM_001281781.2:c.2323A>G, NM_001281781.1:c.2323A>G, NM_001281771.3:c.2221A>G, NM_001281771.2:c.2221A>G, NM_001281771.1:c.2221A>G, NM_001363741.2:c.2617A>G, NM_001363741.1:c.2617A>G, NM_001363714.1:c.2698A>G, NP_036540.3:p.Lys847Glu, NP_898868.1:p.Lys847Glu, NP_898869.1:p.Lys822Glu, NP_001268702.1:p.Lys873Glu, NP_001268701.1:p.Lys873Glu, NP_001268704.1:p.Lys893Glu, NP_001268708.1:p.Lys579Glu, NP_001268703.1:p.Lys827Glu, NP_001268712.1:p.Lys893Glu, NP_001268709.1:p.Lys579Glu, NP_001268707.1:p.Lys868Glu, NP_001268706.1:p.Lys822Glu, NP_001268711.1:p.Lys822Glu, NP_001268713.1:p.Lys821Glu, NP_001268705.1:p.Lys766Glu, NP_001268710.1:p.Lys775Glu, NP_001268700.1:p.Lys741Glu, NP_001350670.1:p.Lys873Glu, NP_001350643.1:p.Lys900Glu

                                  17.

                                  rs1463623516 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    20:47276612 (GRCh38)
                                    20:45905356 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:47276611:C:G
                                    Gene:
                                    ZMYND8 (Varview)
                                    Functional Consequence:
                                    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000020.11:g.47276612C>G, NC_000020.10:g.45905356C>G, NM_012408.6:c.1182G>C, NM_012408.5:c.1182G>C, NM_012408.4:c.1182G>C, NM_012408.3:c.1182G>C, NM_183047.4:c.1182G>C, NM_183047.3:c.1182G>C, NM_183047.2:c.1182G>C, NM_183047.1:c.1182G>C, NM_183048.4:c.1107G>C, NM_183048.3:c.1107G>C, NM_183048.2:c.1107G>C, NM_183048.1:c.1107G>C, NM_001281773.3:c.1122G>C, NM_001281773.2:c.1122G>C, NM_001281773.1:c.1122G>C, NM_001281772.3:c.1122G>C, NM_001281772.2:c.1122G>C, NM_001281772.1:c.1122G>C, NM_001281775.3:c.1182G>C, NM_001281775.2:c.1182G>C, NM_001281775.1:c.1182G>C, NM_001281779.3:c.378G>C, NM_001281779.2:c.378G>C, NM_001281779.1:c.378G>C, NM_001281774.3:c.1122G>C, NM_001281774.2:c.1122G>C, NM_001281774.1:c.1122G>C, NM_001281783.3:c.1182G>C, NM_001281783.2:c.1182G>C, NM_001281783.1:c.1182G>C, NM_001281780.3:c.378G>C, NM_001281780.2:c.378G>C, NM_001281780.1:c.378G>C, NM_001281778.3:c.1107G>C, NM_001281778.2:c.1107G>C, NM_001281778.1:c.1107G>C, NM_001281777.3:c.1107G>C, NM_001281777.2:c.1107G>C, NM_001281777.1:c.1107G>C, NM_001281782.3:c.1107G>C, NM_001281782.2:c.1107G>C, NM_001281782.1:c.1107G>C, NM_001281784.3:c.1107G>C, NM_001281784.2:c.1107G>C, NM_001281784.1:c.1107G>C, NM_001281776.3:c.1182G>C, NM_001281776.2:c.1182G>C, NM_001281776.1:c.1182G>C, NM_001281781.3:c.1107G>C, NM_001281781.2:c.1107G>C, NM_001281781.1:c.1107G>C, NM_001281771.3:c.1107G>C, NM_001281771.2:c.1107G>C, NM_001281771.1:c.1107G>C, NM_001363741.2:c.1122G>C, NM_001363741.1:c.1122G>C, NM_001363714.1:c.1203G>C, NP_036540.3:p.Gln394His, NP_898868.1:p.Gln394His, NP_898869.1:p.Gln369His, NP_001268702.1:p.Gln374His, NP_001268701.1:p.Gln374His, NP_001268704.1:p.Gln394His, NP_001268708.1:p.Gln126His, NP_001268703.1:p.Gln374His, NP_001268712.1:p.Gln394His, NP_001268709.1:p.Gln126His, NP_001268707.1:p.Gln369His, NP_001268706.1:p.Gln369His, NP_001268711.1:p.Gln369His, NP_001268713.1:p.Gln369His, NP_001268705.1:p.Gln394His, NP_001268710.1:p.Gln369His, NP_001268700.1:p.Gln369His, NP_001350670.1:p.Gln374His, NP_001350643.1:p.Gln401His

                                    18.

                                    rs1463483400 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      20:47298846 (GRCh38)
                                      20:45927590 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:47298845:C:G
                                      Gene:
                                      ZMYND8 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,5_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      HGVS:
                                      NC_000020.11:g.47298846C>G, NC_000020.10:g.45927590C>G, NM_012408.6:c.336G>C, NM_012408.5:c.336G>C, NM_012408.4:c.336G>C, NM_012408.3:c.336G>C, NM_183047.4:c.336G>C, NM_183047.3:c.336G>C, NM_183047.2:c.336G>C, NM_183047.1:c.336G>C, NM_183048.4:c.261G>C, NM_183048.3:c.261G>C, NM_183048.2:c.261G>C, NM_183048.1:c.261G>C, NM_001281773.3:c.276G>C, NM_001281773.2:c.276G>C, NM_001281773.1:c.276G>C, NM_001281772.3:c.276G>C, NM_001281772.2:c.276G>C, NM_001281772.1:c.276G>C, NM_001281775.3:c.336G>C, NM_001281775.2:c.336G>C, NM_001281775.1:c.336G>C, NM_001281779.3:c.-600G>C, NM_001281779.2:c.-600G>C, NM_001281779.1:c.-600G>C, NM_001281774.3:c.276G>C, NM_001281774.2:c.276G>C, NM_001281774.1:c.276G>C, NM_001281783.3:c.336G>C, NM_001281783.2:c.336G>C, NM_001281783.1:c.336G>C, NM_001281780.3:c.-600G>C, NM_001281780.2:c.-600G>C, NM_001281780.1:c.-600G>C, NM_001281778.3:c.261G>C, NM_001281778.2:c.261G>C, NM_001281778.1:c.261G>C, NM_001281777.3:c.261G>C, NM_001281777.2:c.261G>C, NM_001281777.1:c.261G>C, NM_001281782.3:c.261G>C, NM_001281782.2:c.261G>C, NM_001281782.1:c.261G>C, NM_001281784.3:c.261G>C, NM_001281784.2:c.261G>C, NM_001281784.1:c.261G>C, NM_001281776.3:c.336G>C, NM_001281776.2:c.336G>C, NM_001281776.1:c.336G>C, NM_001281781.3:c.261G>C, NM_001281781.2:c.261G>C, NM_001281781.1:c.261G>C, NM_001281771.3:c.261G>C, NM_001281771.2:c.261G>C, NM_001281771.1:c.261G>C, NM_001363741.2:c.276G>C, NM_001363741.1:c.276G>C, NM_001281769.2:c.336G>C, NM_001281769.1:c.336G>C, NM_001363714.1:c.357G>C, NP_036540.3:p.Trp112Cys, NP_898868.1:p.Trp112Cys, NP_898869.1:p.Trp87Cys, NP_001268702.1:p.Trp92Cys, NP_001268701.1:p.Trp92Cys, NP_001268704.1:p.Trp112Cys, NP_001268703.1:p.Trp92Cys, NP_001268712.1:p.Trp112Cys, NP_001268707.1:p.Trp87Cys, NP_001268706.1:p.Trp87Cys, NP_001268711.1:p.Trp87Cys, NP_001268713.1:p.Trp87Cys, NP_001268705.1:p.Trp112Cys, NP_001268710.1:p.Trp87Cys, NP_001268700.1:p.Trp87Cys, NP_001350670.1:p.Trp92Cys, NP_001268698.1:p.Trp112Cys, NP_001350643.1:p.Trp119Cys

                                      19.

                                      rs1463199120 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        20:47298834 (GRCh38)
                                        20:45927578 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:47298833:C:T
                                        Gene:
                                        ZMYND8 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000062/2 (ALFA)
                                        T=0.000004/1 (GnomAD_exomes)
                                        T=0.000007/1 (GnomAD)
                                        T=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000020.11:g.47298834C>T, NC_000020.10:g.45927578C>T, NM_012408.6:c.348G>A, NM_012408.5:c.348G>A, NM_012408.4:c.348G>A, NM_012408.3:c.348G>A, NM_183047.4:c.348G>A, NM_183047.3:c.348G>A, NM_183047.2:c.348G>A, NM_183047.1:c.348G>A, NM_183048.4:c.273G>A, NM_183048.3:c.273G>A, NM_183048.2:c.273G>A, NM_183048.1:c.273G>A, NM_001281773.3:c.288G>A, NM_001281773.2:c.288G>A, NM_001281773.1:c.288G>A, NM_001281772.3:c.288G>A, NM_001281772.2:c.288G>A, NM_001281772.1:c.288G>A, NM_001281775.3:c.348G>A, NM_001281775.2:c.348G>A, NM_001281775.1:c.348G>A, NM_001281779.3:c.-588G>A, NM_001281779.2:c.-588G>A, NM_001281779.1:c.-588G>A, NM_001281774.3:c.288G>A, NM_001281774.2:c.288G>A, NM_001281774.1:c.288G>A, NM_001281783.3:c.348G>A, NM_001281783.2:c.348G>A, NM_001281783.1:c.348G>A, NM_001281780.3:c.-588G>A, NM_001281780.2:c.-588G>A, NM_001281780.1:c.-588G>A, NM_001281778.3:c.273G>A, NM_001281778.2:c.273G>A, NM_001281778.1:c.273G>A, NM_001281777.3:c.273G>A, NM_001281777.2:c.273G>A, NM_001281777.1:c.273G>A, NM_001281782.3:c.273G>A, NM_001281782.2:c.273G>A, NM_001281782.1:c.273G>A, NM_001281784.3:c.273G>A, NM_001281784.2:c.273G>A, NM_001281784.1:c.273G>A, NM_001281776.3:c.348G>A, NM_001281776.2:c.348G>A, NM_001281776.1:c.348G>A, NM_001281781.3:c.273G>A, NM_001281781.2:c.273G>A, NM_001281781.1:c.273G>A, NM_001281771.3:c.273G>A, NM_001281771.2:c.273G>A, NM_001281771.1:c.273G>A, NM_001363741.2:c.288G>A, NM_001363741.1:c.288G>A, NM_001281769.2:c.348G>A, NM_001281769.1:c.348G>A, NM_001363714.1:c.369G>A

                                        20.

                                        rs1462883863 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          20:47310083 (GRCh38)
                                          20:45938827 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:47310082:G:A
                                          Gene:
                                          ZMYND8 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000071/1 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000011/3 (TOPMED)
                                          HGVS:
                                          NC_000020.11:g.47310083G>A, NC_000020.10:g.45938827G>A, NM_012408.6:c.207C>T, NM_012408.5:c.207C>T, NM_012408.4:c.207C>T, NM_012408.3:c.207C>T, NM_183047.4:c.207C>T, NM_183047.3:c.207C>T, NM_183047.2:c.207C>T, NM_183047.1:c.207C>T, NM_183048.4:c.207C>T, NM_183048.3:c.207C>T, NM_183048.2:c.207C>T, NM_183048.1:c.207C>T, NM_001281773.3:c.147C>T, NM_001281773.2:c.147C>T, NM_001281773.1:c.147C>T, NM_001281772.3:c.222C>T, NM_001281772.2:c.222C>T, NM_001281772.1:c.222C>T, NM_001281775.3:c.207C>T, NM_001281775.2:c.207C>T, NM_001281775.1:c.207C>T, NM_001281779.3:c.-729C>T, NM_001281779.2:c.-729C>T, NM_001281779.1:c.-729C>T, NM_001281774.3:c.147C>T, NM_001281774.2:c.147C>T, NM_001281774.1:c.147C>T, NM_001281783.3:c.207C>T, NM_001281783.2:c.207C>T, NM_001281783.1:c.207C>T, NM_001281780.3:c.-729C>T, NM_001281780.2:c.-729C>T, NM_001281780.1:c.-729C>T, NM_001281778.3:c.207C>T, NM_001281778.2:c.207C>T, NM_001281778.1:c.207C>T, NM_001281777.3:c.207C>T, NM_001281777.2:c.207C>T, NM_001281777.1:c.207C>T, NM_001281782.3:c.207C>T, NM_001281782.2:c.207C>T, NM_001281782.1:c.207C>T, NM_001281784.3:c.207C>T, NM_001281784.2:c.207C>T, NM_001281784.1:c.207C>T, NM_001281776.3:c.207C>T, NM_001281776.2:c.207C>T, NM_001281776.1:c.207C>T, NM_001281781.3:c.207C>T, NM_001281781.2:c.207C>T, NM_001281781.1:c.207C>T, NM_001281771.3:c.207C>T, NM_001281771.2:c.207C>T, NM_001281771.1:c.207C>T, NM_001363741.2:c.147C>T, NM_001363741.1:c.147C>T, NM_001281769.2:c.207C>T, NM_001281769.1:c.207C>T, NM_001363714.1:c.228C>T

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