U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 559

1.

rs1485441798 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    8:109575109 (GRCh38)
    8:110587338 (GRCh37)
    Canonical SPDI:
    NC_000008.11:109575108:C:A
    Gene:
    SYBU (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    A=0.000014/2 (GnomAD)
    A=0.000023/6 (TOPMED)
    HGVS:
    NC_000008.11:g.109575109C>A, NC_000008.10:g.110587338C>A, NM_017786.6:c.1786G>T, NM_017786.5:c.1786G>T, XM_011517154.3:c.1288G>T, XM_011517154.2:c.1288G>T, XM_011517154.1:c.1288G>T, NM_001099752.2:c.1789G>T, NM_001099752.1:c.1789G>T, NM_001099751.2:c.1786G>T, NM_001099751.1:c.1786G>T, NM_001099744.2:c.1789G>T, NM_001099744.1:c.1789G>T, NM_001099743.2:c.1786G>T, NM_001099743.1:c.1786G>T, NM_001099745.2:c.1789G>T, NM_001099745.1:c.1789G>T, NM_001099750.2:c.1789G>T, NM_001099750.1:c.1789G>T, NM_001099748.2:c.1789G>T, NM_001099748.1:c.1789G>T, NM_001099747.2:c.1786G>T, NM_001099747.1:c.1786G>T, NM_001099754.2:c.1789G>T, NM_001099754.1:c.1789G>T, NM_001099753.2:c.1786G>T, NM_001099753.1:c.1786G>T, NM_001099746.2:c.1432G>T, NM_001099746.1:c.1432G>T, NM_001099755.2:c.1432G>T, NM_001099755.1:c.1432G>T, NM_001099749.2:c.1432G>T, NM_001099749.1:c.1432G>T, NM_001330596.2:c.1399G>T, NM_001330596.1:c.1399G>T, NM_001363032.2:c.1300G>T, NM_001363032.1:c.1300G>T, XM_047421949.1:c.2065G>T, XM_047421950.1:c.2062G>T, NM_001099756.1:c.1780G>T, NP_060256.3:p.Gly596Cys, XP_011515456.1:p.Gly430Cys, NP_001093222.1:p.Gly597Cys, NP_001093221.1:p.Gly596Cys, NP_001093214.1:p.Gly597Cys, NP_001093213.1:p.Gly596Cys, NP_001093215.1:p.Gly597Cys, NP_001093220.1:p.Gly597Cys, NP_001093218.1:p.Gly597Cys, NP_001093217.1:p.Gly596Cys, NP_001093224.1:p.Gly597Cys, NP_001093223.1:p.Gly596Cys, NP_001093216.1:p.Gly478Cys, NP_001093225.1:p.Gly478Cys, NP_001093219.1:p.Gly478Cys, NP_001317525.1:p.Gly467Cys, NP_001349961.1:p.Gly434Cys, XP_047277905.1:p.Gly689Cys, XP_047277906.1:p.Gly688Cys, NP_001093226.1:p.Gly594Cys

    2.

    rs1484933200 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      8:109575186 (GRCh38)
      8:110587415 (GRCh37)
      Canonical SPDI:
      NC_000008.11:109575185:T:C
      Gene:
      SYBU (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000008.11:g.109575186T>C, NC_000008.10:g.110587415T>C, NM_017786.6:c.1709A>G, NM_017786.5:c.1709A>G, XM_011517154.3:c.1211A>G, XM_011517154.2:c.1211A>G, XM_011517154.1:c.1211A>G, NM_001099752.2:c.1712A>G, NM_001099752.1:c.1712A>G, NM_001099751.2:c.1709A>G, NM_001099751.1:c.1709A>G, NM_001099744.2:c.1712A>G, NM_001099744.1:c.1712A>G, NM_001099743.2:c.1709A>G, NM_001099743.1:c.1709A>G, NM_001099745.2:c.1712A>G, NM_001099745.1:c.1712A>G, NM_001099750.2:c.1712A>G, NM_001099750.1:c.1712A>G, NM_001099748.2:c.1712A>G, NM_001099748.1:c.1712A>G, NM_001099747.2:c.1709A>G, NM_001099747.1:c.1709A>G, NM_001099754.2:c.1712A>G, NM_001099754.1:c.1712A>G, NM_001099753.2:c.1709A>G, NM_001099753.1:c.1709A>G, NM_001099746.2:c.1355A>G, NM_001099746.1:c.1355A>G, NM_001099755.2:c.1355A>G, NM_001099755.1:c.1355A>G, NM_001099749.2:c.1355A>G, NM_001099749.1:c.1355A>G, NM_001330596.2:c.1322A>G, NM_001330596.1:c.1322A>G, NM_001363032.2:c.1223A>G, NM_001363032.1:c.1223A>G, XM_047421949.1:c.1988A>G, XM_047421950.1:c.1985A>G, NM_001099756.1:c.1703A>G, NP_060256.3:p.Asn570Ser, XP_011515456.1:p.Asn404Ser, NP_001093222.1:p.Asn571Ser, NP_001093221.1:p.Asn570Ser, NP_001093214.1:p.Asn571Ser, NP_001093213.1:p.Asn570Ser, NP_001093215.1:p.Asn571Ser, NP_001093220.1:p.Asn571Ser, NP_001093218.1:p.Asn571Ser, NP_001093217.1:p.Asn570Ser, NP_001093224.1:p.Asn571Ser, NP_001093223.1:p.Asn570Ser, NP_001093216.1:p.Asn452Ser, NP_001093225.1:p.Asn452Ser, NP_001093219.1:p.Asn452Ser, NP_001317525.1:p.Asn441Ser, NP_001349961.1:p.Asn408Ser, XP_047277905.1:p.Asn663Ser, XP_047277906.1:p.Asn662Ser, NP_001093226.1:p.Asn568Ser

      3.

      rs1483064530 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        8:109575220 (GRCh38)
        8:110587449 (GRCh37)
        Canonical SPDI:
        NC_000008.11:109575219:G:T
        Gene:
        SYBU (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        NC_000008.11:g.109575220G>T, NC_000008.10:g.110587449G>T, NM_017786.6:c.1675C>A, NM_017786.5:c.1675C>A, XM_011517154.3:c.1177C>A, XM_011517154.2:c.1177C>A, XM_011517154.1:c.1177C>A, NM_001099752.2:c.1678C>A, NM_001099752.1:c.1678C>A, NM_001099751.2:c.1675C>A, NM_001099751.1:c.1675C>A, NM_001099744.2:c.1678C>A, NM_001099744.1:c.1678C>A, NM_001099743.2:c.1675C>A, NM_001099743.1:c.1675C>A, NM_001099745.2:c.1678C>A, NM_001099745.1:c.1678C>A, NM_001099750.2:c.1678C>A, NM_001099750.1:c.1678C>A, NM_001099748.2:c.1678C>A, NM_001099748.1:c.1678C>A, NM_001099747.2:c.1675C>A, NM_001099747.1:c.1675C>A, NM_001099754.2:c.1678C>A, NM_001099754.1:c.1678C>A, NM_001099753.2:c.1675C>A, NM_001099753.1:c.1675C>A, NM_001099746.2:c.1321C>A, NM_001099746.1:c.1321C>A, NM_001099755.2:c.1321C>A, NM_001099755.1:c.1321C>A, NM_001099749.2:c.1321C>A, NM_001099749.1:c.1321C>A, NM_001330596.2:c.1288C>A, NM_001330596.1:c.1288C>A, NM_001363032.2:c.1189C>A, NM_001363032.1:c.1189C>A, XM_047421949.1:c.1954C>A, XM_047421950.1:c.1951C>A, NM_001099756.1:c.1669C>A, NP_060256.3:p.Pro559Thr, XP_011515456.1:p.Pro393Thr, NP_001093222.1:p.Pro560Thr, NP_001093221.1:p.Pro559Thr, NP_001093214.1:p.Pro560Thr, NP_001093213.1:p.Pro559Thr, NP_001093215.1:p.Pro560Thr, NP_001093220.1:p.Pro560Thr, NP_001093218.1:p.Pro560Thr, NP_001093217.1:p.Pro559Thr, NP_001093224.1:p.Pro560Thr, NP_001093223.1:p.Pro559Thr, NP_001093216.1:p.Pro441Thr, NP_001093225.1:p.Pro441Thr, NP_001093219.1:p.Pro441Thr, NP_001317525.1:p.Pro430Thr, NP_001349961.1:p.Pro397Thr, XP_047277905.1:p.Pro652Thr, XP_047277906.1:p.Pro651Thr, NP_001093226.1:p.Pro557Thr

        4.

        rs1483030589 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          8:109575533 (GRCh38)
          8:110587762 (GRCh37)
          Canonical SPDI:
          NC_000008.11:109575532:G:A
          Gene:
          SYBU (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_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_000008.11:g.109575533G>A, NC_000008.10:g.110587762G>A, NM_017786.6:c.1362C>T, NM_017786.5:c.1362C>T, XM_011517154.3:c.864C>T, XM_011517154.2:c.864C>T, XM_011517154.1:c.864C>T, NM_001099752.2:c.1365C>T, NM_001099752.1:c.1365C>T, NM_001099751.2:c.1362C>T, NM_001099751.1:c.1362C>T, NM_001099744.2:c.1365C>T, NM_001099744.1:c.1365C>T, NM_001099743.2:c.1362C>T, NM_001099743.1:c.1362C>T, NM_001099745.2:c.1365C>T, NM_001099745.1:c.1365C>T, NM_001099750.2:c.1365C>T, NM_001099750.1:c.1365C>T, NM_001099748.2:c.1365C>T, NM_001099748.1:c.1365C>T, NM_001099747.2:c.1362C>T, NM_001099747.1:c.1362C>T, NM_001099754.2:c.1365C>T, NM_001099754.1:c.1365C>T, NM_001099753.2:c.1362C>T, NM_001099753.1:c.1362C>T, NM_001099746.2:c.1008C>T, NM_001099746.1:c.1008C>T, NM_001099755.2:c.1008C>T, NM_001099755.1:c.1008C>T, NM_001099749.2:c.1008C>T, NM_001099749.1:c.1008C>T, NM_001330596.2:c.975C>T, NM_001330596.1:c.975C>T, NM_001363032.2:c.876C>T, NM_001363032.1:c.876C>T, XM_047421949.1:c.1641C>T, XM_047421950.1:c.1638C>T, NM_001099756.1:c.1356C>T

          5.

          rs1482998438 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            8:109579978 (GRCh38)
            8:110592207 (GRCh37)
            Canonical SPDI:
            NC_000008.11:109579977:A:G
            Gene:
            SYBU (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000008.11:g.109579978A>G, NC_000008.10:g.110592207A>G, NM_017786.6:c.552T>C, NM_017786.5:c.552T>C, XM_011517154.3:c.54T>C, XM_011517154.2:c.54T>C, XM_011517154.1:c.54T>C, NM_001099752.2:c.555T>C, NM_001099752.1:c.555T>C, NM_001099751.2:c.552T>C, NM_001099751.1:c.552T>C, NM_001099744.2:c.555T>C, NM_001099744.1:c.555T>C, NM_001099743.2:c.552T>C, NM_001099743.1:c.552T>C, NM_001099745.2:c.555T>C, NM_001099745.1:c.555T>C, NM_001099750.2:c.555T>C, NM_001099750.1:c.555T>C, NM_001099748.2:c.555T>C, NM_001099748.1:c.555T>C, NM_001099747.2:c.552T>C, NM_001099747.1:c.552T>C, NM_001099754.2:c.555T>C, NM_001099754.1:c.555T>C, NM_001099753.2:c.552T>C, NM_001099753.1:c.552T>C, NM_001099746.2:c.198T>C, NM_001099746.1:c.198T>C, NM_001099755.2:c.198T>C, NM_001099755.1:c.198T>C, NM_001099749.2:c.198T>C, NM_001099749.1:c.198T>C, NM_001330596.2:c.165T>C, NM_001330596.1:c.165T>C, NM_001363032.2:c.66T>C, NM_001363032.1:c.66T>C, XM_047421949.1:c.831T>C, XM_047421950.1:c.828T>C, NM_001099756.1:c.546T>C

            6.

            rs1482428464 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              8:109586159 (GRCh38)
              8:110598388 (GRCh37)
              Canonical SPDI:
              NC_000008.11:109586158:C:T
              Gene:
              SYBU (Varview)
              Functional Consequence:
              missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000008.11:g.109586159C>T, NC_000008.10:g.110598388C>T, NM_017786.6:c.428G>A, NM_017786.5:c.428G>A, NM_001099752.2:c.431G>A, NM_001099752.1:c.431G>A, NM_001099751.2:c.428G>A, NM_001099751.1:c.428G>A, NM_001099744.2:c.431G>A, NM_001099744.1:c.431G>A, NM_001099743.2:c.428G>A, NM_001099743.1:c.428G>A, NM_001099745.2:c.431G>A, NM_001099745.1:c.431G>A, NM_001099750.2:c.431G>A, NM_001099750.1:c.431G>A, NM_001099748.2:c.431G>A, NM_001099748.1:c.431G>A, NM_001099747.2:c.428G>A, NM_001099747.1:c.428G>A, NM_001099754.2:c.431G>A, NM_001099754.1:c.431G>A, NM_001099753.2:c.428G>A, NM_001099753.1:c.428G>A, NM_001099746.2:c.74G>A, NM_001099746.1:c.74G>A, NM_001099755.2:c.74G>A, NM_001099755.1:c.74G>A, NM_001099749.2:c.74G>A, NM_001099749.1:c.74G>A, NM_001330596.2:c.41G>A, NM_001330596.1:c.41G>A, NM_001363032.2:c.-59G>A, NM_001363032.1:c.-59G>A, XM_047421949.1:c.707G>A, XM_047421950.1:c.704G>A, NM_001099756.1:c.422G>A, NP_060256.3:p.Ser143Asn, NP_001093222.1:p.Ser144Asn, NP_001093221.1:p.Ser143Asn, NP_001093214.1:p.Ser144Asn, NP_001093213.1:p.Ser143Asn, NP_001093215.1:p.Ser144Asn, NP_001093220.1:p.Ser144Asn, NP_001093218.1:p.Ser144Asn, NP_001093217.1:p.Ser143Asn, NP_001093224.1:p.Ser144Asn, NP_001093223.1:p.Ser143Asn, NP_001093216.1:p.Ser25Asn, NP_001093225.1:p.Ser25Asn, NP_001093219.1:p.Ser25Asn, NP_001317525.1:p.Ser14Asn, XP_047277905.1:p.Ser236Asn, XP_047277906.1:p.Ser235Asn, NP_001093226.1:p.Ser141Asn

              7.

              rs1479108158 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A,C [Show Flanks]
                Chromosome:
                8:109575595 (GRCh38)
                8:110587824 (GRCh37)
                Canonical SPDI:
                NC_000008.11:109575594:T:A,NC_000008.11:109575594:T:C
                Gene:
                SYBU (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000071/1 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                C=0.000004/1 (TOPMED)
                HGVS:
                NC_000008.11:g.109575595T>A, NC_000008.11:g.109575595T>C, NC_000008.10:g.110587824T>A, NC_000008.10:g.110587824T>C, NM_017786.6:c.1300A>T, NM_017786.6:c.1300A>G, NM_017786.5:c.1300A>T, NM_017786.5:c.1300A>G, XM_011517154.3:c.802A>T, XM_011517154.3:c.802A>G, XM_011517154.2:c.802A>T, XM_011517154.2:c.802A>G, XM_011517154.1:c.802A>T, XM_011517154.1:c.802A>G, NM_001099752.2:c.1303A>T, NM_001099752.2:c.1303A>G, NM_001099752.1:c.1303A>T, NM_001099752.1:c.1303A>G, NM_001099751.2:c.1300A>T, NM_001099751.2:c.1300A>G, NM_001099751.1:c.1300A>T, NM_001099751.1:c.1300A>G, NM_001099744.2:c.1303A>T, NM_001099744.2:c.1303A>G, NM_001099744.1:c.1303A>T, NM_001099744.1:c.1303A>G, NM_001099743.2:c.1300A>T, NM_001099743.2:c.1300A>G, NM_001099743.1:c.1300A>T, NM_001099743.1:c.1300A>G, NM_001099745.2:c.1303A>T, NM_001099745.2:c.1303A>G, NM_001099745.1:c.1303A>T, NM_001099745.1:c.1303A>G, NM_001099750.2:c.1303A>T, NM_001099750.2:c.1303A>G, NM_001099750.1:c.1303A>T, NM_001099750.1:c.1303A>G, NM_001099748.2:c.1303A>T, NM_001099748.2:c.1303A>G, NM_001099748.1:c.1303A>T, NM_001099748.1:c.1303A>G, NM_001099747.2:c.1300A>T, NM_001099747.2:c.1300A>G, NM_001099747.1:c.1300A>T, NM_001099747.1:c.1300A>G, NM_001099754.2:c.1303A>T, NM_001099754.2:c.1303A>G, NM_001099754.1:c.1303A>T, NM_001099754.1:c.1303A>G, NM_001099753.2:c.1300A>T, NM_001099753.2:c.1300A>G, NM_001099753.1:c.1300A>T, NM_001099753.1:c.1300A>G, NM_001099746.2:c.946A>T, NM_001099746.2:c.946A>G, NM_001099746.1:c.946A>T, NM_001099746.1:c.946A>G, NM_001099755.2:c.946A>T, NM_001099755.2:c.946A>G, NM_001099755.1:c.946A>T, NM_001099755.1:c.946A>G, NM_001099749.2:c.946A>T, NM_001099749.2:c.946A>G, NM_001099749.1:c.946A>T, NM_001099749.1:c.946A>G, NM_001330596.2:c.913A>T, NM_001330596.2:c.913A>G, NM_001330596.1:c.913A>T, NM_001330596.1:c.913A>G, NM_001363032.2:c.814A>T, NM_001363032.2:c.814A>G, NM_001363032.1:c.814A>T, NM_001363032.1:c.814A>G, XM_047421949.1:c.1579A>T, XM_047421949.1:c.1579A>G, XM_047421950.1:c.1576A>T, XM_047421950.1:c.1576A>G, NM_001099756.1:c.1294A>T, NM_001099756.1:c.1294A>G, NP_060256.3:p.Ile434Leu, NP_060256.3:p.Ile434Val, XP_011515456.1:p.Ile268Leu, XP_011515456.1:p.Ile268Val, NP_001093222.1:p.Ile435Leu, NP_001093222.1:p.Ile435Val, NP_001093221.1:p.Ile434Leu, NP_001093221.1:p.Ile434Val, NP_001093214.1:p.Ile435Leu, NP_001093214.1:p.Ile435Val, NP_001093213.1:p.Ile434Leu, NP_001093213.1:p.Ile434Val, NP_001093215.1:p.Ile435Leu, NP_001093215.1:p.Ile435Val, NP_001093220.1:p.Ile435Leu, NP_001093220.1:p.Ile435Val, NP_001093218.1:p.Ile435Leu, NP_001093218.1:p.Ile435Val, NP_001093217.1:p.Ile434Leu, NP_001093217.1:p.Ile434Val, NP_001093224.1:p.Ile435Leu, NP_001093224.1:p.Ile435Val, NP_001093223.1:p.Ile434Leu, NP_001093223.1:p.Ile434Val, NP_001093216.1:p.Ile316Leu, NP_001093216.1:p.Ile316Val, NP_001093225.1:p.Ile316Leu, NP_001093225.1:p.Ile316Val, NP_001093219.1:p.Ile316Leu, NP_001093219.1:p.Ile316Val, NP_001317525.1:p.Ile305Leu, NP_001317525.1:p.Ile305Val, NP_001349961.1:p.Ile272Leu, NP_001349961.1:p.Ile272Val, XP_047277905.1:p.Ile527Leu, XP_047277905.1:p.Ile527Val, XP_047277906.1:p.Ile526Leu, XP_047277906.1:p.Ile526Val, NP_001093226.1:p.Ile432Leu, NP_001093226.1:p.Ile432Val

                8.

                rs1478521392 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  8:109575234 (GRCh38)
                  8:110587463 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:109575233:G:A
                  Gene:
                  SYBU (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  HGVS:
                  NC_000008.11:g.109575234G>A, NC_000008.10:g.110587463G>A, NM_017786.6:c.1661C>T, NM_017786.5:c.1661C>T, XM_011517154.3:c.1163C>T, XM_011517154.2:c.1163C>T, XM_011517154.1:c.1163C>T, NM_001099752.2:c.1664C>T, NM_001099752.1:c.1664C>T, NM_001099751.2:c.1661C>T, NM_001099751.1:c.1661C>T, NM_001099744.2:c.1664C>T, NM_001099744.1:c.1664C>T, NM_001099743.2:c.1661C>T, NM_001099743.1:c.1661C>T, NM_001099745.2:c.1664C>T, NM_001099745.1:c.1664C>T, NM_001099750.2:c.1664C>T, NM_001099750.1:c.1664C>T, NM_001099748.2:c.1664C>T, NM_001099748.1:c.1664C>T, NM_001099747.2:c.1661C>T, NM_001099747.1:c.1661C>T, NM_001099754.2:c.1664C>T, NM_001099754.1:c.1664C>T, NM_001099753.2:c.1661C>T, NM_001099753.1:c.1661C>T, NM_001099746.2:c.1307C>T, NM_001099746.1:c.1307C>T, NM_001099755.2:c.1307C>T, NM_001099755.1:c.1307C>T, NM_001099749.2:c.1307C>T, NM_001099749.1:c.1307C>T, NM_001330596.2:c.1274C>T, NM_001330596.1:c.1274C>T, NM_001363032.2:c.1175C>T, NM_001363032.1:c.1175C>T, XM_047421949.1:c.1940C>T, XM_047421950.1:c.1937C>T, NM_001099756.1:c.1655C>T, NP_060256.3:p.Ser554Phe, XP_011515456.1:p.Ser388Phe, NP_001093222.1:p.Ser555Phe, NP_001093221.1:p.Ser554Phe, NP_001093214.1:p.Ser555Phe, NP_001093213.1:p.Ser554Phe, NP_001093215.1:p.Ser555Phe, NP_001093220.1:p.Ser555Phe, NP_001093218.1:p.Ser555Phe, NP_001093217.1:p.Ser554Phe, NP_001093224.1:p.Ser555Phe, NP_001093223.1:p.Ser554Phe, NP_001093216.1:p.Ser436Phe, NP_001093225.1:p.Ser436Phe, NP_001093219.1:p.Ser436Phe, NP_001317525.1:p.Ser425Phe, NP_001349961.1:p.Ser392Phe, XP_047277905.1:p.Ser647Phe, XP_047277906.1:p.Ser646Phe, NP_001093226.1:p.Ser552Phe

                  9.

                  rs1476498858 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    8:109579910 (GRCh38)
                    8:110592139 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:109579909:A:G
                    Gene:
                    SYBU (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000008.11:g.109579910A>G, NC_000008.10:g.110592139A>G, NM_017786.6:c.620T>C, NM_017786.5:c.620T>C, XM_011517154.3:c.122T>C, XM_011517154.2:c.122T>C, XM_011517154.1:c.122T>C, NM_001099752.2:c.623T>C, NM_001099752.1:c.623T>C, NM_001099751.2:c.620T>C, NM_001099751.1:c.620T>C, NM_001099744.2:c.623T>C, NM_001099744.1:c.623T>C, NM_001099743.2:c.620T>C, NM_001099743.1:c.620T>C, NM_001099745.2:c.623T>C, NM_001099745.1:c.623T>C, NM_001099750.2:c.623T>C, NM_001099750.1:c.623T>C, NM_001099748.2:c.623T>C, NM_001099748.1:c.623T>C, NM_001099747.2:c.620T>C, NM_001099747.1:c.620T>C, NM_001099754.2:c.623T>C, NM_001099754.1:c.623T>C, NM_001099753.2:c.620T>C, NM_001099753.1:c.620T>C, NM_001099746.2:c.266T>C, NM_001099746.1:c.266T>C, NM_001099755.2:c.266T>C, NM_001099755.1:c.266T>C, NM_001099749.2:c.266T>C, NM_001099749.1:c.266T>C, NM_001330596.2:c.233T>C, NM_001330596.1:c.233T>C, NM_001363032.2:c.134T>C, NM_001363032.1:c.134T>C, XM_047421949.1:c.899T>C, XM_047421950.1:c.896T>C, NM_001099756.1:c.614T>C, NP_060256.3:p.Leu207Pro, XP_011515456.1:p.Leu41Pro, NP_001093222.1:p.Leu208Pro, NP_001093221.1:p.Leu207Pro, NP_001093214.1:p.Leu208Pro, NP_001093213.1:p.Leu207Pro, NP_001093215.1:p.Leu208Pro, NP_001093220.1:p.Leu208Pro, NP_001093218.1:p.Leu208Pro, NP_001093217.1:p.Leu207Pro, NP_001093224.1:p.Leu208Pro, NP_001093223.1:p.Leu207Pro, NP_001093216.1:p.Leu89Pro, NP_001093225.1:p.Leu89Pro, NP_001093219.1:p.Leu89Pro, NP_001317525.1:p.Leu78Pro, NP_001349961.1:p.Leu45Pro, XP_047277905.1:p.Leu300Pro, XP_047277906.1:p.Leu299Pro, NP_001093226.1:p.Leu205Pro

                    10.

                    rs1475675955 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      8:109575493 (GRCh38)
                      8:110587722 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:109575492:C:G
                      Gene:
                      SYBU (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000008.11:g.109575493C>G, NC_000008.10:g.110587722C>G, NM_017786.6:c.1402G>C, NM_017786.5:c.1402G>C, XM_011517154.3:c.904G>C, XM_011517154.2:c.904G>C, XM_011517154.1:c.904G>C, NM_001099752.2:c.1405G>C, NM_001099752.1:c.1405G>C, NM_001099751.2:c.1402G>C, NM_001099751.1:c.1402G>C, NM_001099744.2:c.1405G>C, NM_001099744.1:c.1405G>C, NM_001099743.2:c.1402G>C, NM_001099743.1:c.1402G>C, NM_001099745.2:c.1405G>C, NM_001099745.1:c.1405G>C, NM_001099750.2:c.1405G>C, NM_001099750.1:c.1405G>C, NM_001099748.2:c.1405G>C, NM_001099748.1:c.1405G>C, NM_001099747.2:c.1402G>C, NM_001099747.1:c.1402G>C, NM_001099754.2:c.1405G>C, NM_001099754.1:c.1405G>C, NM_001099753.2:c.1402G>C, NM_001099753.1:c.1402G>C, NM_001099746.2:c.1048G>C, NM_001099746.1:c.1048G>C, NM_001099755.2:c.1048G>C, NM_001099755.1:c.1048G>C, NM_001099749.2:c.1048G>C, NM_001099749.1:c.1048G>C, NM_001330596.2:c.1015G>C, NM_001330596.1:c.1015G>C, NM_001363032.2:c.916G>C, NM_001363032.1:c.916G>C, XM_047421949.1:c.1681G>C, XM_047421950.1:c.1678G>C, NM_001099756.1:c.1396G>C, NP_060256.3:p.Glu468Gln, XP_011515456.1:p.Glu302Gln, NP_001093222.1:p.Glu469Gln, NP_001093221.1:p.Glu468Gln, NP_001093214.1:p.Glu469Gln, NP_001093213.1:p.Glu468Gln, NP_001093215.1:p.Glu469Gln, NP_001093220.1:p.Glu469Gln, NP_001093218.1:p.Glu469Gln, NP_001093217.1:p.Glu468Gln, NP_001093224.1:p.Glu469Gln, NP_001093223.1:p.Glu468Gln, NP_001093216.1:p.Glu350Gln, NP_001093225.1:p.Glu350Gln, NP_001093219.1:p.Glu350Gln, NP_001317525.1:p.Glu339Gln, NP_001349961.1:p.Glu306Gln, XP_047277905.1:p.Glu561Gln, XP_047277906.1:p.Glu560Gln, NP_001093226.1:p.Glu466Gln

                      11.

                      rs1473923385 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        8:109575379 (GRCh38)
                        8:110587608 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:109575378:G:A
                        Gene:
                        SYBU (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        A=0.000004/1 (TOPMED)
                        A=0.000156/1 (1000Genomes)
                        HGVS:
                        NC_000008.11:g.109575379G>A, NC_000008.10:g.110587608G>A, NM_017786.6:c.1516C>T, NM_017786.5:c.1516C>T, XM_011517154.3:c.1018C>T, XM_011517154.2:c.1018C>T, XM_011517154.1:c.1018C>T, NM_001099752.2:c.1519C>T, NM_001099752.1:c.1519C>T, NM_001099751.2:c.1516C>T, NM_001099751.1:c.1516C>T, NM_001099744.2:c.1519C>T, NM_001099744.1:c.1519C>T, NM_001099743.2:c.1516C>T, NM_001099743.1:c.1516C>T, NM_001099745.2:c.1519C>T, NM_001099745.1:c.1519C>T, NM_001099750.2:c.1519C>T, NM_001099750.1:c.1519C>T, NM_001099748.2:c.1519C>T, NM_001099748.1:c.1519C>T, NM_001099747.2:c.1516C>T, NM_001099747.1:c.1516C>T, NM_001099754.2:c.1519C>T, NM_001099754.1:c.1519C>T, NM_001099753.2:c.1516C>T, NM_001099753.1:c.1516C>T, NM_001099746.2:c.1162C>T, NM_001099746.1:c.1162C>T, NM_001099755.2:c.1162C>T, NM_001099755.1:c.1162C>T, NM_001099749.2:c.1162C>T, NM_001099749.1:c.1162C>T, NM_001330596.2:c.1129C>T, NM_001330596.1:c.1129C>T, NM_001363032.2:c.1030C>T, NM_001363032.1:c.1030C>T, XM_047421949.1:c.1795C>T, XM_047421950.1:c.1792C>T, NM_001099756.1:c.1510C>T

                        12.

                        rs1472996912 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          8:109579831 (GRCh38)
                          8:110592060 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:109579830:G:A
                          Gene:
                          SYBU (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000008.11:g.109579831G>A, NC_000008.10:g.110592060G>A, NM_017786.6:c.699C>T, NM_017786.5:c.699C>T, XM_011517154.3:c.201C>T, XM_011517154.2:c.201C>T, XM_011517154.1:c.201C>T, NM_001099752.2:c.702C>T, NM_001099752.1:c.702C>T, NM_001099751.2:c.699C>T, NM_001099751.1:c.699C>T, NM_001099744.2:c.702C>T, NM_001099744.1:c.702C>T, NM_001099743.2:c.699C>T, NM_001099743.1:c.699C>T, NM_001099745.2:c.702C>T, NM_001099745.1:c.702C>T, NM_001099750.2:c.702C>T, NM_001099750.1:c.702C>T, NM_001099748.2:c.702C>T, NM_001099748.1:c.702C>T, NM_001099747.2:c.699C>T, NM_001099747.1:c.699C>T, NM_001099754.2:c.702C>T, NM_001099754.1:c.702C>T, NM_001099753.2:c.699C>T, NM_001099753.1:c.699C>T, NM_001099746.2:c.345C>T, NM_001099746.1:c.345C>T, NM_001099755.2:c.345C>T, NM_001099755.1:c.345C>T, NM_001099749.2:c.345C>T, NM_001099749.1:c.345C>T, NM_001330596.2:c.312C>T, NM_001330596.1:c.312C>T, NM_001363032.2:c.213C>T, NM_001363032.1:c.213C>T, XM_047421949.1:c.978C>T, XM_047421950.1:c.975C>T, NM_001099756.1:c.693C>T

                          13.

                          rs1472946154 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            8:109575674 (GRCh38)
                            8:110587903 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:109575673:G:A
                            Gene:
                            SYBU (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            A=0.000012/3 (GnomAD_exomes)
                            A=0.000342/1 (KOREAN)
                            HGVS:
                            NC_000008.11:g.109575674G>A, NC_000008.10:g.110587903G>A, NM_017786.6:c.1221C>T, NM_017786.5:c.1221C>T, XM_011517154.3:c.723C>T, XM_011517154.2:c.723C>T, XM_011517154.1:c.723C>T, NM_001099752.2:c.1224C>T, NM_001099752.1:c.1224C>T, NM_001099751.2:c.1221C>T, NM_001099751.1:c.1221C>T, NM_001099744.2:c.1224C>T, NM_001099744.1:c.1224C>T, NM_001099743.2:c.1221C>T, NM_001099743.1:c.1221C>T, NM_001099745.2:c.1224C>T, NM_001099745.1:c.1224C>T, NM_001099750.2:c.1224C>T, NM_001099750.1:c.1224C>T, NM_001099748.2:c.1224C>T, NM_001099748.1:c.1224C>T, NM_001099747.2:c.1221C>T, NM_001099747.1:c.1221C>T, NM_001099754.2:c.1224C>T, NM_001099754.1:c.1224C>T, NM_001099753.2:c.1221C>T, NM_001099753.1:c.1221C>T, NM_001099746.2:c.867C>T, NM_001099746.1:c.867C>T, NM_001099755.2:c.867C>T, NM_001099755.1:c.867C>T, NM_001099749.2:c.867C>T, NM_001099749.1:c.867C>T, NM_001330596.2:c.834C>T, NM_001330596.1:c.834C>T, NM_001363032.2:c.735C>T, NM_001363032.1:c.735C>T, XM_047421949.1:c.1500C>T, XM_047421950.1:c.1497C>T, NM_001099756.1:c.1215C>T

                            14.

                            rs1472650901 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              8:109575307 (GRCh38)
                              8:110587536 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:109575306:T:G
                              Gene:
                              SYBU (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000008.11:g.109575307T>G, NC_000008.10:g.110587536T>G, NM_017786.6:c.1588A>C, NM_017786.5:c.1588A>C, XM_011517154.3:c.1090A>C, XM_011517154.2:c.1090A>C, XM_011517154.1:c.1090A>C, NM_001099752.2:c.1591A>C, NM_001099752.1:c.1591A>C, NM_001099751.2:c.1588A>C, NM_001099751.1:c.1588A>C, NM_001099744.2:c.1591A>C, NM_001099744.1:c.1591A>C, NM_001099743.2:c.1588A>C, NM_001099743.1:c.1588A>C, NM_001099745.2:c.1591A>C, NM_001099745.1:c.1591A>C, NM_001099750.2:c.1591A>C, NM_001099750.1:c.1591A>C, NM_001099748.2:c.1591A>C, NM_001099748.1:c.1591A>C, NM_001099747.2:c.1588A>C, NM_001099747.1:c.1588A>C, NM_001099754.2:c.1591A>C, NM_001099754.1:c.1591A>C, NM_001099753.2:c.1588A>C, NM_001099753.1:c.1588A>C, NM_001099746.2:c.1234A>C, NM_001099746.1:c.1234A>C, NM_001099755.2:c.1234A>C, NM_001099755.1:c.1234A>C, NM_001099749.2:c.1234A>C, NM_001099749.1:c.1234A>C, NM_001330596.2:c.1201A>C, NM_001330596.1:c.1201A>C, NM_001363032.2:c.1102A>C, NM_001363032.1:c.1102A>C, XM_047421949.1:c.1867A>C, XM_047421950.1:c.1864A>C, NM_001099756.1:c.1582A>C, NP_060256.3:p.Ser530Arg, XP_011515456.1:p.Ser364Arg, NP_001093222.1:p.Ser531Arg, NP_001093221.1:p.Ser530Arg, NP_001093214.1:p.Ser531Arg, NP_001093213.1:p.Ser530Arg, NP_001093215.1:p.Ser531Arg, NP_001093220.1:p.Ser531Arg, NP_001093218.1:p.Ser531Arg, NP_001093217.1:p.Ser530Arg, NP_001093224.1:p.Ser531Arg, NP_001093223.1:p.Ser530Arg, NP_001093216.1:p.Ser412Arg, NP_001093225.1:p.Ser412Arg, NP_001093219.1:p.Ser412Arg, NP_001317525.1:p.Ser401Arg, NP_001349961.1:p.Ser368Arg, XP_047277905.1:p.Ser623Arg, XP_047277906.1:p.Ser622Arg, NP_001093226.1:p.Ser528Arg

                              15.

                              rs1472016696 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                8:109586100 (GRCh38)
                                8:110598329 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:109586099:T:C
                                Gene:
                                SYBU (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,coding_sequence_variant,initiator_codon_variant,missense_variant
                                HGVS:
                                NC_000008.11:g.109586100T>C, NC_000008.10:g.110598329T>C, NM_017786.6:c.487A>G, NM_017786.5:c.487A>G, NM_001099752.2:c.490A>G, NM_001099752.1:c.490A>G, NM_001099751.2:c.487A>G, NM_001099751.1:c.487A>G, NM_001099744.2:c.490A>G, NM_001099744.1:c.490A>G, NM_001099743.2:c.487A>G, NM_001099743.1:c.487A>G, NM_001099745.2:c.490A>G, NM_001099745.1:c.490A>G, NM_001099750.2:c.490A>G, NM_001099750.1:c.490A>G, NM_001099748.2:c.490A>G, NM_001099748.1:c.490A>G, NM_001099747.2:c.487A>G, NM_001099747.1:c.487A>G, NM_001099754.2:c.490A>G, NM_001099754.1:c.490A>G, NM_001099753.2:c.487A>G, NM_001099753.1:c.487A>G, NM_001099746.2:c.133A>G, NM_001099746.1:c.133A>G, NM_001099755.2:c.133A>G, NM_001099755.1:c.133A>G, NM_001099749.2:c.133A>G, NM_001099749.1:c.133A>G, NM_001330596.2:c.100A>G, NM_001330596.1:c.100A>G, NM_001363032.2:c.1A>G, NM_001363032.1:c.1A>G, XM_047421949.1:c.766A>G, XM_047421950.1:c.763A>G, NM_001099756.1:c.481A>G, NP_060256.3:p.Met163Val, NP_001093222.1:p.Met164Val, NP_001093221.1:p.Met163Val, NP_001093214.1:p.Met164Val, NP_001093213.1:p.Met163Val, NP_001093215.1:p.Met164Val, NP_001093220.1:p.Met164Val, NP_001093218.1:p.Met164Val, NP_001093217.1:p.Met163Val, NP_001093224.1:p.Met164Val, NP_001093223.1:p.Met163Val, NP_001093216.1:p.Met45Val, NP_001093225.1:p.Met45Val, NP_001093219.1:p.Met45Val, NP_001317525.1:p.Met34Val, NP_001349961.1:p.Met1Val, XP_047277905.1:p.Met256Val, XP_047277906.1:p.Met255Val, NP_001093226.1:p.Met161Val

                                16.

                                rs1471667693 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  8:109575771 (GRCh38)
                                  8:110588000 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:109575770:A:G
                                  Gene:
                                  SYBU (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000034/9 (TOPMED)
                                  HGVS:
                                  NC_000008.11:g.109575771A>G, NC_000008.10:g.110588000A>G, NM_017786.6:c.1124T>C, NM_017786.5:c.1124T>C, XM_011517154.3:c.626T>C, XM_011517154.2:c.626T>C, XM_011517154.1:c.626T>C, NM_001099752.2:c.1127T>C, NM_001099752.1:c.1127T>C, NM_001099751.2:c.1124T>C, NM_001099751.1:c.1124T>C, NM_001099744.2:c.1127T>C, NM_001099744.1:c.1127T>C, NM_001099743.2:c.1124T>C, NM_001099743.1:c.1124T>C, NM_001099745.2:c.1127T>C, NM_001099745.1:c.1127T>C, NM_001099750.2:c.1127T>C, NM_001099750.1:c.1127T>C, NM_001099748.2:c.1127T>C, NM_001099748.1:c.1127T>C, NM_001099747.2:c.1124T>C, NM_001099747.1:c.1124T>C, NM_001099754.2:c.1127T>C, NM_001099754.1:c.1127T>C, NM_001099753.2:c.1124T>C, NM_001099753.1:c.1124T>C, NM_001099746.2:c.770T>C, NM_001099746.1:c.770T>C, NM_001099755.2:c.770T>C, NM_001099755.1:c.770T>C, NM_001099749.2:c.770T>C, NM_001099749.1:c.770T>C, NM_001330596.2:c.737T>C, NM_001330596.1:c.737T>C, NM_001363032.2:c.638T>C, NM_001363032.1:c.638T>C, XM_047421949.1:c.1403T>C, XM_047421950.1:c.1400T>C, NM_001099756.1:c.1118T>C, NP_060256.3:p.Met375Thr, XP_011515456.1:p.Met209Thr, NP_001093222.1:p.Met376Thr, NP_001093221.1:p.Met375Thr, NP_001093214.1:p.Met376Thr, NP_001093213.1:p.Met375Thr, NP_001093215.1:p.Met376Thr, NP_001093220.1:p.Met376Thr, NP_001093218.1:p.Met376Thr, NP_001093217.1:p.Met375Thr, NP_001093224.1:p.Met376Thr, NP_001093223.1:p.Met375Thr, NP_001093216.1:p.Met257Thr, NP_001093225.1:p.Met257Thr, NP_001093219.1:p.Met257Thr, NP_001317525.1:p.Met246Thr, NP_001349961.1:p.Met213Thr, XP_047277905.1:p.Met468Thr, XP_047277906.1:p.Met467Thr, NP_001093226.1:p.Met373Thr

                                  17.

                                  rs1470974209 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    8:109579858 (GRCh38)
                                    8:110592087 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:109579857:A:C
                                    Gene:
                                    SYBU (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000008.11:g.109579858A>C, NC_000008.10:g.110592087A>C, NM_017786.6:c.672T>G, NM_017786.5:c.672T>G, XM_011517154.3:c.174T>G, XM_011517154.2:c.174T>G, XM_011517154.1:c.174T>G, NM_001099752.2:c.675T>G, NM_001099752.1:c.675T>G, NM_001099751.2:c.672T>G, NM_001099751.1:c.672T>G, NM_001099744.2:c.675T>G, NM_001099744.1:c.675T>G, NM_001099743.2:c.672T>G, NM_001099743.1:c.672T>G, NM_001099745.2:c.675T>G, NM_001099745.1:c.675T>G, NM_001099750.2:c.675T>G, NM_001099750.1:c.675T>G, NM_001099748.2:c.675T>G, NM_001099748.1:c.675T>G, NM_001099747.2:c.672T>G, NM_001099747.1:c.672T>G, NM_001099754.2:c.675T>G, NM_001099754.1:c.675T>G, NM_001099753.2:c.672T>G, NM_001099753.1:c.672T>G, NM_001099746.2:c.318T>G, NM_001099746.1:c.318T>G, NM_001099755.2:c.318T>G, NM_001099755.1:c.318T>G, NM_001099749.2:c.318T>G, NM_001099749.1:c.318T>G, NM_001330596.2:c.285T>G, NM_001330596.1:c.285T>G, NM_001363032.2:c.186T>G, NM_001363032.1:c.186T>G, XM_047421949.1:c.951T>G, XM_047421950.1:c.948T>G, NM_001099756.1:c.666T>G

                                    18.

                                    rs1467941086 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      8:109575647 (GRCh38)
                                      8:110587876 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:109575646:T:G
                                      Gene:
                                      SYBU (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000008.11:g.109575647T>G, NC_000008.10:g.110587876T>G, NM_017786.6:c.1248A>C, NM_017786.5:c.1248A>C, XM_011517154.3:c.750A>C, XM_011517154.2:c.750A>C, XM_011517154.1:c.750A>C, NM_001099752.2:c.1251A>C, NM_001099752.1:c.1251A>C, NM_001099751.2:c.1248A>C, NM_001099751.1:c.1248A>C, NM_001099744.2:c.1251A>C, NM_001099744.1:c.1251A>C, NM_001099743.2:c.1248A>C, NM_001099743.1:c.1248A>C, NM_001099745.2:c.1251A>C, NM_001099745.1:c.1251A>C, NM_001099750.2:c.1251A>C, NM_001099750.1:c.1251A>C, NM_001099748.2:c.1251A>C, NM_001099748.1:c.1251A>C, NM_001099747.2:c.1248A>C, NM_001099747.1:c.1248A>C, NM_001099754.2:c.1251A>C, NM_001099754.1:c.1251A>C, NM_001099753.2:c.1248A>C, NM_001099753.1:c.1248A>C, NM_001099746.2:c.894A>C, NM_001099746.1:c.894A>C, NM_001099755.2:c.894A>C, NM_001099755.1:c.894A>C, NM_001099749.2:c.894A>C, NM_001099749.1:c.894A>C, NM_001330596.2:c.861A>C, NM_001330596.1:c.861A>C, NM_001363032.2:c.762A>C, NM_001363032.1:c.762A>C, XM_047421949.1:c.1527A>C, XM_047421950.1:c.1524A>C, NM_001099756.1:c.1242A>C, NP_060256.3:p.Glu416Asp, XP_011515456.1:p.Glu250Asp, NP_001093222.1:p.Glu417Asp, NP_001093221.1:p.Glu416Asp, NP_001093214.1:p.Glu417Asp, NP_001093213.1:p.Glu416Asp, NP_001093215.1:p.Glu417Asp, NP_001093220.1:p.Glu417Asp, NP_001093218.1:p.Glu417Asp, NP_001093217.1:p.Glu416Asp, NP_001093224.1:p.Glu417Asp, NP_001093223.1:p.Glu416Asp, NP_001093216.1:p.Glu298Asp, NP_001093225.1:p.Glu298Asp, NP_001093219.1:p.Glu298Asp, NP_001317525.1:p.Glu287Asp, NP_001349961.1:p.Glu254Asp, XP_047277905.1:p.Glu509Asp, XP_047277906.1:p.Glu508Asp, NP_001093226.1:p.Glu414Asp

                                      19.

                                      rs1467224387 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,T [Show Flanks]
                                        Chromosome:
                                        8:109575222 (GRCh38)
                                        8:110587451 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:109575221:G:A,NC_000008.11:109575221:G:T
                                        Gene:
                                        SYBU (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000008.11:g.109575222G>A, NC_000008.11:g.109575222G>T, NC_000008.10:g.110587451G>A, NC_000008.10:g.110587451G>T, NM_017786.6:c.1673C>T, NM_017786.6:c.1673C>A, NM_017786.5:c.1673C>T, NM_017786.5:c.1673C>A, XM_011517154.3:c.1175C>T, XM_011517154.3:c.1175C>A, XM_011517154.2:c.1175C>T, XM_011517154.2:c.1175C>A, XM_011517154.1:c.1175C>T, XM_011517154.1:c.1175C>A, NM_001099752.2:c.1676C>T, NM_001099752.2:c.1676C>A, NM_001099752.1:c.1676C>T, NM_001099752.1:c.1676C>A, NM_001099751.2:c.1673C>T, NM_001099751.2:c.1673C>A, NM_001099751.1:c.1673C>T, NM_001099751.1:c.1673C>A, NM_001099744.2:c.1676C>T, NM_001099744.2:c.1676C>A, NM_001099744.1:c.1676C>T, NM_001099744.1:c.1676C>A, NM_001099743.2:c.1673C>T, NM_001099743.2:c.1673C>A, NM_001099743.1:c.1673C>T, NM_001099743.1:c.1673C>A, NM_001099745.2:c.1676C>T, NM_001099745.2:c.1676C>A, NM_001099745.1:c.1676C>T, NM_001099745.1:c.1676C>A, NM_001099750.2:c.1676C>T, NM_001099750.2:c.1676C>A, NM_001099750.1:c.1676C>T, NM_001099750.1:c.1676C>A, NM_001099748.2:c.1676C>T, NM_001099748.2:c.1676C>A, NM_001099748.1:c.1676C>T, NM_001099748.1:c.1676C>A, NM_001099747.2:c.1673C>T, NM_001099747.2:c.1673C>A, NM_001099747.1:c.1673C>T, NM_001099747.1:c.1673C>A, NM_001099754.2:c.1676C>T, NM_001099754.2:c.1676C>A, NM_001099754.1:c.1676C>T, NM_001099754.1:c.1676C>A, NM_001099753.2:c.1673C>T, NM_001099753.2:c.1673C>A, NM_001099753.1:c.1673C>T, NM_001099753.1:c.1673C>A, NM_001099746.2:c.1319C>T, NM_001099746.2:c.1319C>A, NM_001099746.1:c.1319C>T, NM_001099746.1:c.1319C>A, NM_001099755.2:c.1319C>T, NM_001099755.2:c.1319C>A, NM_001099755.1:c.1319C>T, NM_001099755.1:c.1319C>A, NM_001099749.2:c.1319C>T, NM_001099749.2:c.1319C>A, NM_001099749.1:c.1319C>T, NM_001099749.1:c.1319C>A, NM_001330596.2:c.1286C>T, NM_001330596.2:c.1286C>A, NM_001330596.1:c.1286C>T, NM_001330596.1:c.1286C>A, NM_001363032.2:c.1187C>T, NM_001363032.2:c.1187C>A, NM_001363032.1:c.1187C>T, NM_001363032.1:c.1187C>A, XM_047421949.1:c.1952C>T, XM_047421949.1:c.1952C>A, XM_047421950.1:c.1949C>T, XM_047421950.1:c.1949C>A, NM_001099756.1:c.1667C>T, NM_001099756.1:c.1667C>A, NP_060256.3:p.Thr558Ile, NP_060256.3:p.Thr558Asn, XP_011515456.1:p.Thr392Ile, XP_011515456.1:p.Thr392Asn, NP_001093222.1:p.Thr559Ile, NP_001093222.1:p.Thr559Asn, NP_001093221.1:p.Thr558Ile, NP_001093221.1:p.Thr558Asn, NP_001093214.1:p.Thr559Ile, NP_001093214.1:p.Thr559Asn, NP_001093213.1:p.Thr558Ile, NP_001093213.1:p.Thr558Asn, NP_001093215.1:p.Thr559Ile, NP_001093215.1:p.Thr559Asn, NP_001093220.1:p.Thr559Ile, NP_001093220.1:p.Thr559Asn, NP_001093218.1:p.Thr559Ile, NP_001093218.1:p.Thr559Asn, NP_001093217.1:p.Thr558Ile, NP_001093217.1:p.Thr558Asn, NP_001093224.1:p.Thr559Ile, NP_001093224.1:p.Thr559Asn, NP_001093223.1:p.Thr558Ile, NP_001093223.1:p.Thr558Asn, NP_001093216.1:p.Thr440Ile, NP_001093216.1:p.Thr440Asn, NP_001093225.1:p.Thr440Ile, NP_001093225.1:p.Thr440Asn, NP_001093219.1:p.Thr440Ile, NP_001093219.1:p.Thr440Asn, NP_001317525.1:p.Thr429Ile, NP_001317525.1:p.Thr429Asn, NP_001349961.1:p.Thr396Ile, NP_001349961.1:p.Thr396Asn, XP_047277905.1:p.Thr651Ile, XP_047277905.1:p.Thr651Asn, XP_047277906.1:p.Thr650Ile, XP_047277906.1:p.Thr650Asn, NP_001093226.1:p.Thr556Ile, NP_001093226.1:p.Thr556Asn

                                        20.

                                        rs1464737950 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          8:109579833 (GRCh38)
                                          8:110592062 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:109579832:A:C
                                          Gene:
                                          SYBU (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0.000071/1 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000008.11:g.109579833A>C, NC_000008.10:g.110592062A>C, NM_017786.6:c.697T>G, NM_017786.5:c.697T>G, XM_011517154.3:c.199T>G, XM_011517154.2:c.199T>G, XM_011517154.1:c.199T>G, NM_001099752.2:c.700T>G, NM_001099752.1:c.700T>G, NM_001099751.2:c.697T>G, NM_001099751.1:c.697T>G, NM_001099744.2:c.700T>G, NM_001099744.1:c.700T>G, NM_001099743.2:c.697T>G, NM_001099743.1:c.697T>G, NM_001099745.2:c.700T>G, NM_001099745.1:c.700T>G, NM_001099750.2:c.700T>G, NM_001099750.1:c.700T>G, NM_001099748.2:c.700T>G, NM_001099748.1:c.700T>G, NM_001099747.2:c.697T>G, NM_001099747.1:c.697T>G, NM_001099754.2:c.700T>G, NM_001099754.1:c.700T>G, NM_001099753.2:c.697T>G, NM_001099753.1:c.697T>G, NM_001099746.2:c.343T>G, NM_001099746.1:c.343T>G, NM_001099755.2:c.343T>G, NM_001099755.1:c.343T>G, NM_001099749.2:c.343T>G, NM_001099749.1:c.343T>G, NM_001330596.2:c.310T>G, NM_001330596.1:c.310T>G, NM_001363032.2:c.211T>G, NM_001363032.1:c.211T>G, XM_047421949.1:c.976T>G, XM_047421950.1:c.973T>G, NM_001099756.1:c.691T>G, NP_060256.3:p.Ser233Ala, XP_011515456.1:p.Ser67Ala, NP_001093222.1:p.Ser234Ala, NP_001093221.1:p.Ser233Ala, NP_001093214.1:p.Ser234Ala, NP_001093213.1:p.Ser233Ala, NP_001093215.1:p.Ser234Ala, NP_001093220.1:p.Ser234Ala, NP_001093218.1:p.Ser234Ala, NP_001093217.1:p.Ser233Ala, NP_001093224.1:p.Ser234Ala, NP_001093223.1:p.Ser233Ala, NP_001093216.1:p.Ser115Ala, NP_001093225.1:p.Ser115Ala, NP_001093219.1:p.Ser115Ala, NP_001317525.1:p.Ser104Ala, NP_001349961.1:p.Ser71Ala, XP_047277905.1:p.Ser326Ala, XP_047277906.1:p.Ser325Ala, NP_001093226.1:p.Ser231Ala

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...