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Items: 1 to 20 of 820

1.

rs1488506882 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    14:102341989 (GRCh38)
    14:102808326 (GRCh37)
    Canonical SPDI:
    NC_000014.9:102341988:C:T
    Gene:
    ZNF839 (Varview)
    Functional Consequence:
    coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
    HGVS:
    NC_000014.9:g.102341989C>T, NC_000014.8:g.102808326C>T, NM_018335.6:c.2594C>T, NM_018335.5:c.2594C>T, NM_018335.4:c.2594C>T, XM_006720203.4:c.2330C>T, XM_006720203.3:c.2330C>T, XM_006720203.2:c.2246C>T, XM_006720203.1:c.2246C>T, XM_011536946.4:c.2546C>T, XM_011536946.3:c.2546C>T, XM_011536946.2:c.2546C>T, XM_011536946.1:c.2546C>T, XM_011536948.3:c.2384C>T, XM_011536948.2:c.2246C>T, XM_011536948.1:c.2246C>T, XM_017021449.3:c.1589C>T, XM_017021449.2:c.1589C>T, XM_017021449.1:c.1589C>T, XM_011536945.2:c.2696C>T, XM_011536945.1:c.2696C>T, NM_001267828.2:c.2246C>T, NM_001267828.1:c.2246C>T, NM_001267827.2:c.2246C>T, NM_001267827.1:c.2246C>T, NR_169567.1:n.2842C>T, NR_169568.1:n.2728C>T, NR_169569.1:n.2699C>T, NM_001385069.1:c.2231C>T, NR_169566.1:n.2607C>T, NM_001385065.1:c.2444C>T, NR_169565.1:n.2382C>T, NM_001385070.1:c.2096C>T, NM_001385071.1:c.2021C>T, NP_060805.3:p.Ala865Val, XP_006720266.2:p.Ala777Val, XP_011535248.1:p.Ala849Val, XP_011535250.2:p.Ala795Val, XP_016876938.1:p.Ala530Val, XP_011535247.1:p.Ala899Val, NP_001254757.1:p.Ala749Val, NP_001254756.1:p.Ala749Val, NP_001371998.1:p.Ala744Val, NP_001371994.1:p.Ala815Val, NP_001371999.1:p.Ala699Val, NP_001372000.1:p.Ala674Val

    2.

    rs1487837720 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      14:102326724 (GRCh38)
      14:102793061 (GRCh37)
      Canonical SPDI:
      NC_000014.9:102326723:C:T
      Gene:
      ZNF839 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
      HGVS:
      NC_000014.9:g.102326724C>T, NC_000014.8:g.102793061C>T, NM_018335.6:c.1028C>T, NM_018335.5:c.1028C>T, NM_018335.4:c.1028C>T, XM_006720203.4:c.764C>T, XM_006720203.3:c.764C>T, XM_006720203.2:c.680C>T, XM_006720203.1:c.680C>T, XM_011536946.4:c.1130C>T, XM_011536946.3:c.1130C>T, XM_011536946.2:c.1130C>T, XM_011536946.1:c.1130C>T, XM_011536949.4:c.1130C>T, XM_011536949.3:c.1130C>T, XM_011536949.2:c.1130C>T, XM_011536949.1:c.1130C>T, XM_011536950.4:c.1130C>T, XM_011536950.3:c.1130C>T, XM_011536950.2:c.1130C>T, XM_011536950.1:c.1130C>T, XM_011536948.3:c.818C>T, XM_011536948.2:c.680C>T, XM_011536948.1:c.680C>T, XM_011536945.2:c.1130C>T, XM_011536945.1:c.1130C>T, NM_001267828.2:c.680C>T, NM_001267828.1:c.680C>T, NM_001267827.2:c.680C>T, NM_001267827.1:c.680C>T, NR_169567.1:n.1276C>T, NR_169568.1:n.1162C>T, NR_169569.1:n.1048C>T, NM_001385069.1:c.680C>T, NR_169566.1:n.1041C>T, NM_001385065.1:c.1028C>T, NR_169565.1:n.1041C>T, NM_001385070.1:c.680C>T, NM_001385071.1:c.680C>T, NM_001385075.1:c.680C>T, NM_001385072.1:c.1028C>T, NM_001385076.1:c.680C>T, NM_001385073.1:c.1028C>T, NM_001385074.1:c.680C>T, NP_060805.3:p.Pro343Leu, XP_006720266.2:p.Pro255Leu, XP_011535248.1:p.Pro377Leu, XP_011535251.1:p.Pro377Leu, XP_011535252.1:p.Pro377Leu, XP_011535250.2:p.Pro273Leu, XP_011535247.1:p.Pro377Leu, NP_001254757.1:p.Pro227Leu, NP_001254756.1:p.Pro227Leu, NP_001371998.1:p.Pro227Leu, NP_001371994.1:p.Pro343Leu, NP_001371999.1:p.Pro227Leu, NP_001372000.1:p.Pro227Leu, NP_001372004.1:p.Pro227Leu, NP_001372001.1:p.Pro343Leu, NP_001372005.1:p.Pro227Leu, NP_001372002.1:p.Pro343Leu, NP_001372003.1:p.Pro227Leu

      3.

      rs1486510882 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        14:102326362 (GRCh38)
        14:102792699 (GRCh37)
        Canonical SPDI:
        NC_000014.9:102326361:C:T
        Gene:
        ZNF839 (Varview)
        Functional Consequence:
        synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000014.9:g.102326362C>T, NC_000014.8:g.102792699C>T, NM_018335.6:c.666C>T, NM_018335.5:c.666C>T, NM_018335.4:c.666C>T, XM_006720203.4:c.402C>T, XM_006720203.3:c.402C>T, XM_006720203.2:c.318C>T, XM_006720203.1:c.318C>T, XM_011536946.4:c.768C>T, XM_011536946.3:c.768C>T, XM_011536946.2:c.768C>T, XM_011536946.1:c.768C>T, XM_011536949.4:c.768C>T, XM_011536949.3:c.768C>T, XM_011536949.2:c.768C>T, XM_011536949.1:c.768C>T, XM_011536950.4:c.768C>T, XM_011536950.3:c.768C>T, XM_011536950.2:c.768C>T, XM_011536950.1:c.768C>T, XM_011536948.3:c.456C>T, XM_011536948.2:c.318C>T, XM_011536948.1:c.318C>T, XM_011536945.2:c.768C>T, XM_011536945.1:c.768C>T, NM_001267828.2:c.318C>T, NM_001267828.1:c.318C>T, NM_001267827.2:c.318C>T, NM_001267827.1:c.318C>T, NR_169567.1:n.914C>T, NR_169568.1:n.800C>T, NR_169569.1:n.686C>T, NM_001385069.1:c.318C>T, NR_169566.1:n.679C>T, NM_001385065.1:c.666C>T, NR_169565.1:n.679C>T, NM_001385070.1:c.318C>T, NM_001385071.1:c.318C>T, NM_001385075.1:c.318C>T, NM_001385072.1:c.666C>T, NM_001385076.1:c.318C>T, NM_001385073.1:c.666C>T, NM_001385074.1:c.318C>T

        4.

        rs1485513025 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          14:102326459 (GRCh38)
          14:102792796 (GRCh37)
          Canonical SPDI:
          NC_000014.9:102326458:C:T
          Gene:
          ZNF839 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,stop_gained
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000071/1 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          T=0.000008/2 (TOPMED)
          T=0.000014/2 (GnomAD)
          HGVS:
          NC_000014.9:g.102326459C>T, NC_000014.8:g.102792796C>T, NM_018335.6:c.763C>T, NM_018335.5:c.763C>T, NM_018335.4:c.763C>T, XM_006720203.4:c.499C>T, XM_006720203.3:c.499C>T, XM_006720203.2:c.415C>T, XM_006720203.1:c.415C>T, XM_011536946.4:c.865C>T, XM_011536946.3:c.865C>T, XM_011536946.2:c.865C>T, XM_011536946.1:c.865C>T, XM_011536949.4:c.865C>T, XM_011536949.3:c.865C>T, XM_011536949.2:c.865C>T, XM_011536949.1:c.865C>T, XM_011536950.4:c.865C>T, XM_011536950.3:c.865C>T, XM_011536950.2:c.865C>T, XM_011536950.1:c.865C>T, XM_011536948.3:c.553C>T, XM_011536948.2:c.415C>T, XM_011536948.1:c.415C>T, XM_011536945.2:c.865C>T, XM_011536945.1:c.865C>T, NM_001267828.2:c.415C>T, NM_001267828.1:c.415C>T, NM_001267827.2:c.415C>T, NM_001267827.1:c.415C>T, NR_169567.1:n.1011C>T, NR_169568.1:n.897C>T, NR_169569.1:n.783C>T, NM_001385069.1:c.415C>T, NR_169566.1:n.776C>T, NM_001385065.1:c.763C>T, NR_169565.1:n.776C>T, NM_001385070.1:c.415C>T, NM_001385071.1:c.415C>T, NM_001385075.1:c.415C>T, NM_001385072.1:c.763C>T, NM_001385076.1:c.415C>T, NM_001385073.1:c.763C>T, NM_001385074.1:c.415C>T, NP_060805.3:p.Arg255Ter, XP_006720266.2:p.Arg167Ter, XP_011535248.1:p.Arg289Ter, XP_011535251.1:p.Arg289Ter, XP_011535252.1:p.Arg289Ter, XP_011535250.2:p.Arg185Ter, XP_011535247.1:p.Arg289Ter, NP_001254757.1:p.Arg139Ter, NP_001254756.1:p.Arg139Ter, NP_001371998.1:p.Arg139Ter, NP_001371994.1:p.Arg255Ter, NP_001371999.1:p.Arg139Ter, NP_001372000.1:p.Arg139Ter, NP_001372004.1:p.Arg139Ter, NP_001372001.1:p.Arg255Ter, NP_001372005.1:p.Arg139Ter, NP_001372002.1:p.Arg255Ter, NP_001372003.1:p.Arg139Ter

          5.

          rs1485263132 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            14:102342064 (GRCh38)
            14:102808401 (GRCh37)
            Canonical SPDI:
            NC_000014.9:102342063:T:C
            Gene:
            ZNF839 (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000014.9:g.102342064T>C, NC_000014.8:g.102808401T>C, NM_018335.6:c.2669T>C, NM_018335.5:c.2669T>C, NM_018335.4:c.2669T>C, XM_006720203.4:c.2405T>C, XM_006720203.3:c.2405T>C, XM_006720203.2:c.2321T>C, XM_006720203.1:c.2321T>C, XM_011536946.4:c.2621T>C, XM_011536946.3:c.2621T>C, XM_011536946.2:c.2621T>C, XM_011536946.1:c.2621T>C, XM_011536948.3:c.2459T>C, XM_011536948.2:c.2321T>C, XM_011536948.1:c.2321T>C, XM_017021449.3:c.1664T>C, XM_017021449.2:c.1664T>C, XM_017021449.1:c.1664T>C, XM_011536945.2:c.2771T>C, XM_011536945.1:c.2771T>C, NM_001267828.2:c.2321T>C, NM_001267828.1:c.2321T>C, NM_001267827.2:c.2321T>C, NM_001267827.1:c.2321T>C, NR_169567.1:n.2917T>C, NR_169568.1:n.2803T>C, NR_169569.1:n.2774T>C, NM_001385069.1:c.2306T>C, NR_169566.1:n.2682T>C, NM_001385065.1:c.2519T>C, NR_169565.1:n.2457T>C, NM_001385070.1:c.2171T>C, NM_001385071.1:c.2096T>C, NP_060805.3:p.Phe890Ser, XP_006720266.2:p.Phe802Ser, XP_011535248.1:p.Phe874Ser, XP_011535250.2:p.Phe820Ser, XP_016876938.1:p.Phe555Ser, XP_011535247.1:p.Phe924Ser, NP_001254757.1:p.Phe774Ser, NP_001254756.1:p.Phe774Ser, NP_001371998.1:p.Phe769Ser, NP_001371994.1:p.Phe840Ser, NP_001371999.1:p.Phe724Ser, NP_001372000.1:p.Phe699Ser

            6.

            rs1484150604 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              14:102331816 (GRCh38)
              14:102798153 (GRCh37)
              Canonical SPDI:
              NC_000014.9:102331815:G:T
              Gene:
              ZNF839 (Varview)
              Functional Consequence:
              coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000071/1 (ALFA)
              T=0.000007/1 (GnomAD)
              T=0.000008/2 (TOPMED)
              HGVS:
              NC_000014.9:g.102331816G>T, NC_000014.8:g.102798153G>T, NM_018335.6:c.1386G>T, NM_018335.5:c.1386G>T, NM_018335.4:c.1386G>T, XM_006720203.4:c.1122G>T, XM_006720203.3:c.1122G>T, XM_006720203.2:c.1038G>T, XM_006720203.1:c.1038G>T, XM_011536946.4:c.1488G>T, XM_011536946.3:c.1488G>T, XM_011536946.2:c.1488G>T, XM_011536946.1:c.1488G>T, XM_011536949.4:c.1488G>T, XM_011536949.3:c.1488G>T, XM_011536949.2:c.1488G>T, XM_011536949.1:c.1488G>T, XM_011536950.4:c.1488G>T, XM_011536950.3:c.1488G>T, XM_011536950.2:c.1488G>T, XM_011536950.1:c.1488G>T, XM_011536948.3:c.1176G>T, XM_011536948.2:c.1038G>T, XM_011536948.1:c.1038G>T, XM_017021449.3:c.381G>T, XM_017021449.2:c.381G>T, XM_017021449.1:c.381G>T, XM_011536945.2:c.1488G>T, XM_011536945.1:c.1488G>T, NM_001267828.2:c.1038G>T, NM_001267828.1:c.1038G>T, NM_001267827.2:c.1038G>T, NM_001267827.1:c.1038G>T, NR_169567.1:n.1634G>T, NR_169568.1:n.1520G>T, NR_169569.1:n.1406G>T, NM_001385069.1:c.1038G>T, NR_169566.1:n.1399G>T, NM_001385065.1:c.1386G>T, NM_001385070.1:c.1038G>T, NM_001385075.1:c.1038G>T, NM_001385072.1:c.1386G>T, NM_001385076.1:c.1038G>T, NM_001385073.1:c.1386G>T, NM_001385074.1:c.1038G>T, NP_060805.3:p.Arg462Ser, XP_006720266.2:p.Arg374Ser, XP_011535248.1:p.Arg496Ser, XP_011535251.1:p.Arg496Ser, XP_011535252.1:p.Arg496Ser, XP_011535250.2:p.Arg392Ser, XP_016876938.1:p.Arg127Ser, XP_011535247.1:p.Arg496Ser, NP_001254757.1:p.Arg346Ser, NP_001254756.1:p.Arg346Ser, NP_001371998.1:p.Arg346Ser, NP_001371994.1:p.Arg462Ser, NP_001371999.1:p.Arg346Ser, NP_001372004.1:p.Arg346Ser, NP_001372001.1:p.Arg462Ser, NP_001372005.1:p.Arg346Ser, NP_001372002.1:p.Arg462Ser, NP_001372003.1:p.Arg346Ser

              7.

              rs1483331127 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                14:102326853 (GRCh38)
                14:102793190 (GRCh37)
                Canonical SPDI:
                NC_000014.9:102326852:G:A
                Gene:
                ZNF839 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000008/2 (TOPMED)
                HGVS:
                NC_000014.9:g.102326853G>A, NC_000014.8:g.102793190G>A, NM_018335.6:c.1157G>A, NM_018335.5:c.1157G>A, NM_018335.4:c.1157G>A, XM_006720203.4:c.893G>A, XM_006720203.3:c.893G>A, XM_006720203.2:c.809G>A, XM_006720203.1:c.809G>A, XM_011536946.4:c.1259G>A, XM_011536946.3:c.1259G>A, XM_011536946.2:c.1259G>A, XM_011536946.1:c.1259G>A, XM_011536949.4:c.1259G>A, XM_011536949.3:c.1259G>A, XM_011536949.2:c.1259G>A, XM_011536949.1:c.1259G>A, XM_011536950.4:c.1259G>A, XM_011536950.3:c.1259G>A, XM_011536950.2:c.1259G>A, XM_011536950.1:c.1259G>A, XM_011536948.3:c.947G>A, XM_011536948.2:c.809G>A, XM_011536948.1:c.809G>A, XM_011536945.2:c.1259G>A, XM_011536945.1:c.1259G>A, NM_001267828.2:c.809G>A, NM_001267828.1:c.809G>A, NM_001267827.2:c.809G>A, NM_001267827.1:c.809G>A, NR_169567.1:n.1405G>A, NR_169568.1:n.1291G>A, NR_169569.1:n.1177G>A, NM_001385069.1:c.809G>A, NR_169566.1:n.1170G>A, NM_001385065.1:c.1157G>A, NR_169565.1:n.1170G>A, NM_001385070.1:c.809G>A, NM_001385071.1:c.809G>A, NM_001385075.1:c.809G>A, NM_001385072.1:c.1157G>A, NM_001385076.1:c.809G>A, NM_001385073.1:c.1157G>A, NM_001385074.1:c.809G>A, NP_060805.3:p.Cys386Tyr, XP_006720266.2:p.Cys298Tyr, XP_011535248.1:p.Cys420Tyr, XP_011535251.1:p.Cys420Tyr, XP_011535252.1:p.Cys420Tyr, XP_011535250.2:p.Cys316Tyr, XP_011535247.1:p.Cys420Tyr, NP_001254757.1:p.Cys270Tyr, NP_001254756.1:p.Cys270Tyr, NP_001371998.1:p.Cys270Tyr, NP_001371994.1:p.Cys386Tyr, NP_001371999.1:p.Cys270Tyr, NP_001372000.1:p.Cys270Tyr, NP_001372004.1:p.Cys270Tyr, NP_001372001.1:p.Cys386Tyr, NP_001372005.1:p.Cys270Tyr, NP_001372002.1:p.Cys386Tyr, NP_001372003.1:p.Cys270Tyr

                8.

                rs1482501503 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  14:102341796 (GRCh38)
                  14:102808133 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:102341795:G:C
                  Gene:
                  ZNF839 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  HGVS:
                  NC_000014.9:g.102341796G>C, NC_000014.8:g.102808133G>C, NM_018335.6:c.2401G>C, NM_018335.5:c.2401G>C, NM_018335.4:c.2401G>C, XM_006720203.4:c.2137G>C, XM_006720203.3:c.2137G>C, XM_006720203.2:c.2053G>C, XM_006720203.1:c.2053G>C, XM_011536946.4:c.2353G>C, XM_011536946.3:c.2353G>C, XM_011536946.2:c.2353G>C, XM_011536946.1:c.2353G>C, XM_011536948.3:c.2191G>C, XM_011536948.2:c.2053G>C, XM_011536948.1:c.2053G>C, XM_017021449.3:c.1396G>C, XM_017021449.2:c.1396G>C, XM_017021449.1:c.1396G>C, XM_011536945.2:c.2503G>C, XM_011536945.1:c.2503G>C, NM_001267828.2:c.2053G>C, NM_001267828.1:c.2053G>C, NM_001267827.2:c.2053G>C, NM_001267827.1:c.2053G>C, NR_169567.1:n.2649G>C, NR_169568.1:n.2535G>C, NR_169569.1:n.2506G>C, NM_001385069.1:c.2038G>C, NR_169566.1:n.2414G>C, NM_001385065.1:c.2251G>C, NR_169565.1:n.2189G>C, NM_001385070.1:c.1903G>C, NM_001385071.1:c.1828G>C, NP_060805.3:p.Glu801Gln, XP_006720266.2:p.Glu713Gln, XP_011535248.1:p.Glu785Gln, XP_011535250.2:p.Glu731Gln, XP_016876938.1:p.Glu466Gln, XP_011535247.1:p.Glu835Gln, NP_001254757.1:p.Glu685Gln, NP_001254756.1:p.Glu685Gln, NP_001371998.1:p.Glu680Gln, NP_001371994.1:p.Glu751Gln, NP_001371999.1:p.Glu635Gln, NP_001372000.1:p.Glu610Gln

                  9.

                  rs1482249214 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    14:102326356 (GRCh38)
                    14:102792693 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:102326355:T:C
                    Gene:
                    ZNF839 (Varview)
                    Functional Consequence:
                    synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0.000028/1 (ALFA)
                    C=0.000008/2 (TOPMED)
                    C=0.000014/2 (GnomAD)
                    HGVS:
                    NC_000014.9:g.102326356T>C, NC_000014.8:g.102792693T>C, NM_018335.6:c.660T>C, NM_018335.5:c.660T>C, NM_018335.4:c.660T>C, XM_006720203.4:c.396T>C, XM_006720203.3:c.396T>C, XM_006720203.2:c.312T>C, XM_006720203.1:c.312T>C, XM_011536946.4:c.762T>C, XM_011536946.3:c.762T>C, XM_011536946.2:c.762T>C, XM_011536946.1:c.762T>C, XM_011536949.4:c.762T>C, XM_011536949.3:c.762T>C, XM_011536949.2:c.762T>C, XM_011536949.1:c.762T>C, XM_011536950.4:c.762T>C, XM_011536950.3:c.762T>C, XM_011536950.2:c.762T>C, XM_011536950.1:c.762T>C, XM_011536948.3:c.450T>C, XM_011536948.2:c.312T>C, XM_011536948.1:c.312T>C, XM_011536945.2:c.762T>C, XM_011536945.1:c.762T>C, NM_001267828.2:c.312T>C, NM_001267828.1:c.312T>C, NM_001267827.2:c.312T>C, NM_001267827.1:c.312T>C, NR_169567.1:n.908T>C, NR_169568.1:n.794T>C, NR_169569.1:n.680T>C, NM_001385069.1:c.312T>C, NR_169566.1:n.673T>C, NM_001385065.1:c.660T>C, NR_169565.1:n.673T>C, NM_001385070.1:c.312T>C, NM_001385071.1:c.312T>C, NM_001385075.1:c.312T>C, NM_001385072.1:c.660T>C, NM_001385076.1:c.312T>C, NM_001385073.1:c.660T>C, NM_001385074.1:c.312T>C

                    10.

                    rs1476988273 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      G>- [Show Flanks]
                      Chromosome:
                      14:102341546 (GRCh38)
                      14:102807883 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:102341545:GG:G
                      Gene:
                      ZNF839 (Varview)
                      Functional Consequence:
                      frameshift_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      GG=0./0 (ALFA)
                      HGVS:
                      NC_000014.9:g.102341547del, NC_000014.8:g.102807884del, NM_018335.6:c.2152del, NM_018335.5:c.2152del, NM_018335.4:c.2152del, XM_006720203.4:c.1888del, XM_006720203.3:c.1888del, XM_006720203.2:c.1804del, XM_006720203.1:c.1804del, XM_011536946.4:c.2104del, XM_011536946.3:c.2104del, XM_011536946.2:c.2104del, XM_011536946.1:c.2104del, XM_011536948.3:c.1942del, XM_011536948.2:c.1804del, XM_011536948.1:c.1804del, XM_017021449.3:c.1147del, XM_017021449.2:c.1147del, XM_017021449.1:c.1147del, XM_011536945.2:c.2254del, XM_011536945.1:c.2254del, NM_001267828.2:c.1804del, NM_001267828.1:c.1804del, NM_001267827.2:c.1804del, NM_001267827.1:c.1804del, NR_169567.1:n.2400del, NR_169568.1:n.2286del, NR_169569.1:n.2257del, NM_001385069.1:c.1789del, NR_169566.1:n.2165del, NM_001385065.1:c.2002del, NR_169565.1:n.1940del, NM_001385070.1:c.1654del, NM_001385071.1:c.1579del, NP_060805.3:p.Ala718fs, XP_006720266.2:p.Ala630fs, XP_011535248.1:p.Ala702fs, XP_011535250.2:p.Ala648fs, XP_016876938.1:p.Ala383fs, XP_011535247.1:p.Ala752fs, NP_001254757.1:p.Ala602fs, NP_001254756.1:p.Ala602fs, NP_001371998.1:p.Ala597fs, NP_001371994.1:p.Ala668fs, NP_001371999.1:p.Ala552fs, NP_001372000.1:p.Ala527fs

                      11.

                      rs1473744932 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        G>- [Show Flanks]
                        Chromosome:
                        14:102326631 (GRCh38)
                        14:102792968 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:102326630:G:
                        Gene:
                        ZNF839 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,frameshift_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        -=0./0 (ALFA)
                        -=0.000007/1 (GnomAD)
                        -=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000014.9:g.102326631del, NC_000014.8:g.102792968del, NM_018335.6:c.935del, NM_018335.5:c.935del, NM_018335.4:c.935del, XM_006720203.4:c.671del, XM_006720203.3:c.671del, XM_006720203.2:c.587del, XM_006720203.1:c.587del, XM_011536946.4:c.1037del, XM_011536946.3:c.1037del, XM_011536946.2:c.1037del, XM_011536946.1:c.1037del, XM_011536949.4:c.1037del, XM_011536949.3:c.1037del, XM_011536949.2:c.1037del, XM_011536949.1:c.1037del, XM_011536950.4:c.1037del, XM_011536950.3:c.1037del, XM_011536950.2:c.1037del, XM_011536950.1:c.1037del, XM_011536948.3:c.725del, XM_011536948.2:c.587del, XM_011536948.1:c.587del, XM_011536945.2:c.1037del, XM_011536945.1:c.1037del, NM_001267828.2:c.587del, NM_001267828.1:c.587del, NM_001267827.2:c.587del, NM_001267827.1:c.587del, NR_169567.1:n.1183del, NR_169568.1:n.1069del, NR_169569.1:n.955del, NM_001385069.1:c.587del, NR_169566.1:n.948del, NM_001385065.1:c.935del, NR_169565.1:n.948del, NM_001385070.1:c.587del, NM_001385071.1:c.587del, NM_001385075.1:c.587del, NM_001385072.1:c.935del, NM_001385076.1:c.587del, NM_001385073.1:c.935del, NM_001385074.1:c.587del, NP_060805.3:p.Ser312fs, XP_006720266.2:p.Ser224fs, XP_011535248.1:p.Ser346fs, XP_011535251.1:p.Ser346fs, XP_011535252.1:p.Ser346fs, XP_011535250.2:p.Ser242fs, XP_011535247.1:p.Ser346fs, NP_001254757.1:p.Ser196fs, NP_001254756.1:p.Ser196fs, NP_001371998.1:p.Ser196fs, NP_001371994.1:p.Ser312fs, NP_001371999.1:p.Ser196fs, NP_001372000.1:p.Ser196fs, NP_001372004.1:p.Ser196fs, NP_001372001.1:p.Ser312fs, NP_001372005.1:p.Ser196fs, NP_001372002.1:p.Ser312fs, NP_001372003.1:p.Ser196fs

                        12.

                        rs1471630451 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          14:102331647 (GRCh38)
                          14:102797984 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:102331646:A:G
                          Gene:
                          ZNF839 (Varview)
                          Functional Consequence:
                          missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
                          HGVS:
                          NC_000014.9:g.102331647A>G, NC_000014.8:g.102797984A>G, NM_018335.6:c.1217A>G, NM_018335.5:c.1217A>G, NM_018335.4:c.1217A>G, XM_006720203.4:c.953A>G, XM_006720203.3:c.953A>G, XM_006720203.2:c.869A>G, XM_006720203.1:c.869A>G, XM_011536946.4:c.1319A>G, XM_011536946.3:c.1319A>G, XM_011536946.2:c.1319A>G, XM_011536946.1:c.1319A>G, XM_011536949.4:c.1319A>G, XM_011536949.3:c.1319A>G, XM_011536949.2:c.1319A>G, XM_011536949.1:c.1319A>G, XM_011536950.4:c.1319A>G, XM_011536950.3:c.1319A>G, XM_011536950.2:c.1319A>G, XM_011536950.1:c.1319A>G, XM_011536948.3:c.1007A>G, XM_011536948.2:c.869A>G, XM_011536948.1:c.869A>G, XM_017021449.3:c.212A>G, XM_017021449.2:c.212A>G, XM_017021449.1:c.212A>G, XM_011536945.2:c.1319A>G, XM_011536945.1:c.1319A>G, NM_001267828.2:c.869A>G, NM_001267828.1:c.869A>G, NM_001267827.2:c.869A>G, NM_001267827.1:c.869A>G, NR_169567.1:n.1465A>G, NR_169568.1:n.1351A>G, NR_169569.1:n.1237A>G, NM_001385069.1:c.869A>G, NR_169566.1:n.1230A>G, NM_001385065.1:c.1217A>G, NM_001385070.1:c.869A>G, NM_001385075.1:c.869A>G, NM_001385072.1:c.1217A>G, NM_001385076.1:c.869A>G, NM_001385073.1:c.1217A>G, NM_001385074.1:c.869A>G, NP_060805.3:p.Glu406Gly, XP_006720266.2:p.Glu318Gly, XP_011535248.1:p.Glu440Gly, XP_011535251.1:p.Glu440Gly, XP_011535252.1:p.Glu440Gly, XP_011535250.2:p.Glu336Gly, XP_016876938.1:p.Glu71Gly, XP_011535247.1:p.Glu440Gly, NP_001254757.1:p.Glu290Gly, NP_001254756.1:p.Glu290Gly, NP_001371998.1:p.Glu290Gly, NP_001371994.1:p.Glu406Gly, NP_001371999.1:p.Glu290Gly, NP_001372004.1:p.Glu290Gly, NP_001372001.1:p.Glu406Gly, NP_001372005.1:p.Glu290Gly, NP_001372002.1:p.Glu406Gly, NP_001372003.1:p.Glu290Gly

                          13.

                          rs1470390505 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            14:102341478 (GRCh38)
                            14:102807815 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:102341477:C:T
                            Gene:
                            ZNF839 (Varview)
                            Functional Consequence:
                            missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000031/1 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000014.9:g.102341478C>T, NC_000014.8:g.102807815C>T, NM_018335.6:c.2083C>T, NM_018335.5:c.2083C>T, NM_018335.4:c.2083C>T, XM_006720203.4:c.1819C>T, XM_006720203.3:c.1819C>T, XM_006720203.2:c.1735C>T, XM_006720203.1:c.1735C>T, XM_011536946.4:c.2035C>T, XM_011536946.3:c.2035C>T, XM_011536946.2:c.2035C>T, XM_011536946.1:c.2035C>T, XM_011536948.3:c.1873C>T, XM_011536948.2:c.1735C>T, XM_011536948.1:c.1735C>T, XM_017021449.3:c.1078C>T, XM_017021449.2:c.1078C>T, XM_017021449.1:c.1078C>T, XM_011536945.2:c.2185C>T, XM_011536945.1:c.2185C>T, NM_001267828.2:c.1735C>T, NM_001267828.1:c.1735C>T, NM_001267827.2:c.1735C>T, NM_001267827.1:c.1735C>T, NR_169567.1:n.2331C>T, NR_169568.1:n.2217C>T, NR_169569.1:n.2188C>T, NM_001385069.1:c.1720C>T, NR_169566.1:n.2096C>T, NM_001385065.1:c.1933C>T, NR_169565.1:n.1871C>T, NM_001385070.1:c.1585C>T, NM_001385071.1:c.1510C>T, NP_060805.3:p.Leu695Phe, XP_006720266.2:p.Leu607Phe, XP_011535248.1:p.Leu679Phe, XP_011535250.2:p.Leu625Phe, XP_016876938.1:p.Leu360Phe, XP_011535247.1:p.Leu729Phe, NP_001254757.1:p.Leu579Phe, NP_001254756.1:p.Leu579Phe, NP_001371998.1:p.Leu574Phe, NP_001371994.1:p.Leu645Phe, NP_001371999.1:p.Leu529Phe, NP_001372000.1:p.Leu504Phe

                            14.

                            rs1469689403 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              14:102342172 (GRCh38)
                              14:102808509 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:102342171:C:T
                              Gene:
                              ZNF839 (Varview)
                              Functional Consequence:
                              missense_variant,non_coding_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000071/1 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              T=0.000007/1 (GnomAD)
                              T=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000014.9:g.102342172C>T, NC_000014.8:g.102808509C>T, NM_018335.6:c.2777C>T, NM_018335.5:c.2777C>T, NM_018335.4:c.2777C>T, XM_006720203.4:c.2513C>T, XM_006720203.3:c.2513C>T, XM_006720203.2:c.2429C>T, XM_006720203.1:c.2429C>T, XM_011536946.4:c.2729C>T, XM_011536946.3:c.2729C>T, XM_011536946.2:c.2729C>T, XM_011536946.1:c.2729C>T, XM_011536949.4:c.2099C>T, XM_011536949.3:c.2099C>T, XM_011536949.2:c.2099C>T, XM_011536949.1:c.2099C>T, XM_011536950.4:c.1949C>T, XM_011536950.3:c.1949C>T, XM_011536950.2:c.1949C>T, XM_011536950.1:c.1949C>T, XM_011536948.3:c.2567C>T, XM_011536948.2:c.2429C>T, XM_011536948.1:c.2429C>T, XM_017021449.3:c.1772C>T, XM_017021449.2:c.1772C>T, XM_017021449.1:c.1772C>T, XM_011536945.2:c.2879C>T, XM_011536945.1:c.2879C>T, NM_001267828.2:c.2429C>T, NM_001267828.1:c.2429C>T, NM_001267827.2:c.2429C>T, NM_001267827.1:c.2429C>T, NR_169567.1:n.3025C>T, NR_169568.1:n.2911C>T, NR_169569.1:n.2882C>T, NM_001385069.1:c.2414C>T, NR_169566.1:n.2790C>T, NM_001385065.1:c.2627C>T, NR_169565.1:n.2565C>T, NM_001385070.1:c.2279C>T, NM_001385071.1:c.2204C>T, NM_001385075.1:c.1649C>T, NM_001385072.1:c.1997C>T, NM_001385076.1:c.1649C>T, NM_001385073.1:c.1847C>T, NM_001385074.1:c.1649C>T, NP_060805.3:p.Ala926Val, XP_006720266.2:p.Ala838Val, XP_011535248.1:p.Ala910Val, XP_011535251.1:p.Ala700Val, XP_011535252.1:p.Ala650Val, XP_011535250.2:p.Ala856Val, XP_016876938.1:p.Ala591Val, XP_011535247.1:p.Ala960Val, NP_001254757.1:p.Ala810Val, NP_001254756.1:p.Ala810Val, NP_001371998.1:p.Ala805Val, NP_001371994.1:p.Ala876Val, NP_001371999.1:p.Ala760Val, NP_001372000.1:p.Ala735Val, NP_001372004.1:p.Ala550Val, NP_001372001.1:p.Ala666Val, NP_001372005.1:p.Ala550Val, NP_001372002.1:p.Ala616Val, NP_001372003.1:p.Ala550Val

                              15.

                              rs1467914908 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                14:102326850 (GRCh38)
                                14:102793187 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:102326849:C:T
                                Gene:
                                ZNF839 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
                                HGVS:
                                NC_000014.9:g.102326850C>T, NC_000014.8:g.102793187C>T, NM_018335.6:c.1154C>T, NM_018335.5:c.1154C>T, NM_018335.4:c.1154C>T, XM_006720203.4:c.890C>T, XM_006720203.3:c.890C>T, XM_006720203.2:c.806C>T, XM_006720203.1:c.806C>T, XM_011536946.4:c.1256C>T, XM_011536946.3:c.1256C>T, XM_011536946.2:c.1256C>T, XM_011536946.1:c.1256C>T, XM_011536949.4:c.1256C>T, XM_011536949.3:c.1256C>T, XM_011536949.2:c.1256C>T, XM_011536949.1:c.1256C>T, XM_011536950.4:c.1256C>T, XM_011536950.3:c.1256C>T, XM_011536950.2:c.1256C>T, XM_011536950.1:c.1256C>T, XM_011536948.3:c.944C>T, XM_011536948.2:c.806C>T, XM_011536948.1:c.806C>T, XM_011536945.2:c.1256C>T, XM_011536945.1:c.1256C>T, NM_001267828.2:c.806C>T, NM_001267828.1:c.806C>T, NM_001267827.2:c.806C>T, NM_001267827.1:c.806C>T, NR_169567.1:n.1402C>T, NR_169568.1:n.1288C>T, NR_169569.1:n.1174C>T, NM_001385069.1:c.806C>T, NR_169566.1:n.1167C>T, NM_001385065.1:c.1154C>T, NR_169565.1:n.1167C>T, NM_001385070.1:c.806C>T, NM_001385071.1:c.806C>T, NM_001385075.1:c.806C>T, NM_001385072.1:c.1154C>T, NM_001385076.1:c.806C>T, NM_001385073.1:c.1154C>T, NM_001385074.1:c.806C>T, NP_060805.3:p.Ser385Phe, XP_006720266.2:p.Ser297Phe, XP_011535248.1:p.Ser419Phe, XP_011535251.1:p.Ser419Phe, XP_011535252.1:p.Ser419Phe, XP_011535250.2:p.Ser315Phe, XP_011535247.1:p.Ser419Phe, NP_001254757.1:p.Ser269Phe, NP_001254756.1:p.Ser269Phe, NP_001371998.1:p.Ser269Phe, NP_001371994.1:p.Ser385Phe, NP_001371999.1:p.Ser269Phe, NP_001372000.1:p.Ser269Phe, NP_001372004.1:p.Ser269Phe, NP_001372001.1:p.Ser385Phe, NP_001372005.1:p.Ser269Phe, NP_001372002.1:p.Ser385Phe, NP_001372003.1:p.Ser269Phe

                                16.

                                rs1466315996 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  14:102341740 (GRCh38)
                                  14:102808077 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:102341739:A:C
                                  Gene:
                                  ZNF839 (Varview)
                                  Functional Consequence:
                                  missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000014.9:g.102341740A>C, NC_000014.8:g.102808077A>C, NM_018335.6:c.2345A>C, NM_018335.5:c.2345A>C, NM_018335.4:c.2345A>C, XM_006720203.4:c.2081A>C, XM_006720203.3:c.2081A>C, XM_006720203.2:c.1997A>C, XM_006720203.1:c.1997A>C, XM_011536946.4:c.2297A>C, XM_011536946.3:c.2297A>C, XM_011536946.2:c.2297A>C, XM_011536946.1:c.2297A>C, XM_011536948.3:c.2135A>C, XM_011536948.2:c.1997A>C, XM_011536948.1:c.1997A>C, XM_017021449.3:c.1340A>C, XM_017021449.2:c.1340A>C, XM_017021449.1:c.1340A>C, XM_011536945.2:c.2447A>C, XM_011536945.1:c.2447A>C, NM_001267828.2:c.1997A>C, NM_001267828.1:c.1997A>C, NM_001267827.2:c.1997A>C, NM_001267827.1:c.1997A>C, NR_169567.1:n.2593A>C, NR_169568.1:n.2479A>C, NR_169569.1:n.2450A>C, NM_001385069.1:c.1982A>C, NR_169566.1:n.2358A>C, NM_001385065.1:c.2195A>C, NR_169565.1:n.2133A>C, NM_001385070.1:c.1847A>C, NM_001385071.1:c.1772A>C, NP_060805.3:p.His782Pro, XP_006720266.2:p.His694Pro, XP_011535248.1:p.His766Pro, XP_011535250.2:p.His712Pro, XP_016876938.1:p.His447Pro, XP_011535247.1:p.His816Pro, NP_001254757.1:p.His666Pro, NP_001254756.1:p.His666Pro, NP_001371998.1:p.His661Pro, NP_001371994.1:p.His732Pro, NP_001371999.1:p.His616Pro, NP_001372000.1:p.His591Pro

                                  17.

                                  rs1464633165 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    14:102335763 (GRCh38)
                                    14:102802100 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:102335762:T:C
                                    Gene:
                                    ZNF839 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (GnomAD_exomes)
                                    C=0.000007/1 (GnomAD)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000014.9:g.102335763T>C, NC_000014.8:g.102802100T>C, NM_018335.6:c.1584T>C, NM_018335.5:c.1584T>C, NM_018335.4:c.1584T>C, XM_006720203.4:c.1320T>C, XM_006720203.3:c.1320T>C, XM_006720203.2:c.1236T>C, XM_006720203.1:c.1236T>C, XM_011536949.4:c.1686T>C, XM_011536949.3:c.1686T>C, XM_011536949.2:c.1686T>C, XM_011536949.1:c.1686T>C, XM_011536948.3:c.1374T>C, XM_011536948.2:c.1236T>C, XM_011536948.1:c.1236T>C, XM_017021449.3:c.579T>C, XM_017021449.2:c.579T>C, XM_017021449.1:c.579T>C, XM_011536945.2:c.1686T>C, XM_011536945.1:c.1686T>C, NM_001267828.2:c.1236T>C, NM_001267828.1:c.1236T>C, NM_001267827.2:c.1236T>C, NM_001267827.1:c.1236T>C, NR_169567.1:n.1832T>C, NR_169568.1:n.1718T>C, NR_169569.1:n.1604T>C, NM_001385069.1:c.1236T>C, NR_169566.1:n.1597T>C, NR_169565.1:n.1372T>C, NM_001385071.1:c.1011T>C, NM_001385075.1:c.1236T>C, NM_001385072.1:c.1584T>C, NM_001385076.1:c.1236T>C, NM_001385074.1:c.1236T>C

                                    18.

                                    rs1462417029 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      14:102331767 (GRCh38)
                                      14:102798104 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:102331766:G:A
                                      Gene:
                                      ZNF839 (Varview)
                                      Functional Consequence:
                                      missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000014.9:g.102331767G>A, NC_000014.8:g.102798104G>A, NM_018335.6:c.1337G>A, NM_018335.5:c.1337G>A, NM_018335.4:c.1337G>A, XM_006720203.4:c.1073G>A, XM_006720203.3:c.1073G>A, XM_006720203.2:c.989G>A, XM_006720203.1:c.989G>A, XM_011536946.4:c.1439G>A, XM_011536946.3:c.1439G>A, XM_011536946.2:c.1439G>A, XM_011536946.1:c.1439G>A, XM_011536949.4:c.1439G>A, XM_011536949.3:c.1439G>A, XM_011536949.2:c.1439G>A, XM_011536949.1:c.1439G>A, XM_011536950.4:c.1439G>A, XM_011536950.3:c.1439G>A, XM_011536950.2:c.1439G>A, XM_011536950.1:c.1439G>A, XM_011536948.3:c.1127G>A, XM_011536948.2:c.989G>A, XM_011536948.1:c.989G>A, XM_017021449.3:c.332G>A, XM_017021449.2:c.332G>A, XM_017021449.1:c.332G>A, XM_011536945.2:c.1439G>A, XM_011536945.1:c.1439G>A, NM_001267828.2:c.989G>A, NM_001267828.1:c.989G>A, NM_001267827.2:c.989G>A, NM_001267827.1:c.989G>A, NR_169567.1:n.1585G>A, NR_169568.1:n.1471G>A, NR_169569.1:n.1357G>A, NM_001385069.1:c.989G>A, NR_169566.1:n.1350G>A, NM_001385065.1:c.1337G>A, NM_001385070.1:c.989G>A, NM_001385075.1:c.989G>A, NM_001385072.1:c.1337G>A, NM_001385076.1:c.989G>A, NM_001385073.1:c.1337G>A, NM_001385074.1:c.989G>A, NP_060805.3:p.Arg446Lys, XP_006720266.2:p.Arg358Lys, XP_011535248.1:p.Arg480Lys, XP_011535251.1:p.Arg480Lys, XP_011535252.1:p.Arg480Lys, XP_011535250.2:p.Arg376Lys, XP_016876938.1:p.Arg111Lys, XP_011535247.1:p.Arg480Lys, NP_001254757.1:p.Arg330Lys, NP_001254756.1:p.Arg330Lys, NP_001371998.1:p.Arg330Lys, NP_001371994.1:p.Arg446Lys, NP_001371999.1:p.Arg330Lys, NP_001372004.1:p.Arg330Lys, NP_001372001.1:p.Arg446Lys, NP_001372005.1:p.Arg330Lys, NP_001372002.1:p.Arg446Lys, NP_001372003.1:p.Arg330Lys

                                      19.

                                      rs1461271130 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        14:102341929 (GRCh38)
                                        14:102808266 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:102341928:A:G
                                        Gene:
                                        ZNF839 (Varview)
                                        Functional Consequence:
                                        missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (GnomAD_exomes)
                                        G=0.000007/1 (GnomAD)
                                        G=0.000015/4 (TOPMED)
                                        HGVS:
                                        NC_000014.9:g.102341929A>G, NC_000014.8:g.102808266A>G, NM_018335.6:c.2534A>G, NM_018335.5:c.2534A>G, NM_018335.4:c.2534A>G, XM_006720203.4:c.2270A>G, XM_006720203.3:c.2270A>G, XM_006720203.2:c.2186A>G, XM_006720203.1:c.2186A>G, XM_011536946.4:c.2486A>G, XM_011536946.3:c.2486A>G, XM_011536946.2:c.2486A>G, XM_011536946.1:c.2486A>G, XM_011536948.3:c.2324A>G, XM_011536948.2:c.2186A>G, XM_011536948.1:c.2186A>G, XM_017021449.3:c.1529A>G, XM_017021449.2:c.1529A>G, XM_017021449.1:c.1529A>G, XM_011536945.2:c.2636A>G, XM_011536945.1:c.2636A>G, NM_001267828.2:c.2186A>G, NM_001267828.1:c.2186A>G, NM_001267827.2:c.2186A>G, NM_001267827.1:c.2186A>G, NR_169567.1:n.2782A>G, NR_169568.1:n.2668A>G, NR_169569.1:n.2639A>G, NM_001385069.1:c.2171A>G, NR_169566.1:n.2547A>G, NM_001385065.1:c.2384A>G, NR_169565.1:n.2322A>G, NM_001385070.1:c.2036A>G, NM_001385071.1:c.1961A>G, NP_060805.3:p.Asn845Ser, XP_006720266.2:p.Asn757Ser, XP_011535248.1:p.Asn829Ser, XP_011535250.2:p.Asn775Ser, XP_016876938.1:p.Asn510Ser, XP_011535247.1:p.Asn879Ser, NP_001254757.1:p.Asn729Ser, NP_001254756.1:p.Asn729Ser, NP_001371998.1:p.Asn724Ser, NP_001371994.1:p.Asn795Ser, NP_001371999.1:p.Asn679Ser, NP_001372000.1:p.Asn654Ser

                                        20.

                                        rs1460370551 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          14:102339186 (GRCh38)
                                          14:102805523 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:102339185:C:T
                                          Gene:
                                          ZNF839 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:
                                          NC_000014.9:g.102339186C>T, NC_000014.8:g.102805523C>T, NM_018335.6:c.1890C>T, NM_018335.5:c.1890C>T, NM_018335.4:c.1890C>T, XM_006720203.4:c.1626C>T, XM_006720203.3:c.1626C>T, XM_006720203.2:c.1542C>T, XM_006720203.1:c.1542C>T, XM_011536946.4:c.1842C>T, XM_011536946.3:c.1842C>T, XM_011536946.2:c.1842C>T, XM_011536946.1:c.1842C>T, XM_011536949.4:c.1992C>T, XM_011536949.3:c.1992C>T, XM_011536949.2:c.1992C>T, XM_011536949.1:c.1992C>T, XM_011536950.4:c.1842C>T, XM_011536950.3:c.1842C>T, XM_011536950.2:c.1842C>T, XM_011536950.1:c.1842C>T, XM_011536948.3:c.1680C>T, XM_011536948.2:c.1542C>T, XM_011536948.1:c.1542C>T, XM_017021449.3:c.885C>T, XM_017021449.2:c.885C>T, XM_017021449.1:c.885C>T, XM_011536945.2:c.1992C>T, XM_011536945.1:c.1992C>T, NM_001267828.2:c.1542C>T, NM_001267828.1:c.1542C>T, NM_001267827.2:c.1542C>T, NM_001267827.1:c.1542C>T, NR_169567.1:n.2138C>T, NR_169568.1:n.2024C>T, NR_169569.1:n.1995C>T, NM_001385069.1:c.1542C>T, NR_169566.1:n.1903C>T, NM_001385065.1:c.1740C>T, NR_169565.1:n.1678C>T, NM_001385070.1:c.1392C>T, NM_001385071.1:c.1317C>T, NM_001385075.1:c.1542C>T, NM_001385072.1:c.1890C>T, NM_001385076.1:c.1542C>T, NM_001385073.1:c.1740C>T, NM_001385074.1:c.1542C>T

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