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Items: 1 to 20 of 471

1.

rs1487961129 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    19:36877708 (GRCh38)
    19:37368610 (GRCh37)
    Canonical SPDI:
    NC_000019.10:36877707:A:G
    Gene:
    ZNF345 (Varview)
    Functional Consequence:
    missense_variant,intron_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0.000071/1 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    NC_000019.10:g.36877708A>G, NC_000019.9:g.37368610A>G, NM_003419.5:c.878A>G, NM_003419.4:c.878A>G, XM_011526704.4:c.878A>G, XM_011526704.3:c.878A>G, XM_011526704.2:c.878A>G, XM_011526704.1:c.878A>G, XM_017026572.3:c.878A>G, XM_017026572.2:c.878A>G, XM_017026572.1:c.878A>G, XM_017026570.3:c.878A>G, XM_017026570.2:c.878A>G, XM_017026570.1:c.878A>G, XM_017026571.3:c.878A>G, XM_017026571.2:c.878A>G, XM_017026571.1:c.878A>G, XM_017026569.3:c.878A>G, XM_017026569.2:c.878A>G, XM_017026569.1:c.878A>G, XM_017026568.2:c.878A>G, XM_017026568.1:c.878A>G, XM_017026573.2:c.878A>G, XM_017026573.1:c.878A>G, NM_001242474.2:c.878A>G, NM_001242474.1:c.878A>G, NM_001242476.2:c.878A>G, NM_001242476.1:c.878A>G, NM_001242472.2:c.878A>G, NM_001242472.1:c.878A>G, NM_001242475.2:c.878A>G, NM_001242475.1:c.878A>G, XM_047438566.1:c.878A>G, NP_003410.1:p.Lys293Arg, XP_011525006.1:p.Lys293Arg, XP_016882061.1:p.Lys293Arg, XP_016882059.1:p.Lys293Arg, XP_016882060.1:p.Lys293Arg, XP_016882058.1:p.Lys293Arg, XP_016882057.1:p.Lys293Arg, XP_016882062.1:p.Lys293Arg, NP_001229403.1:p.Lys293Arg, NP_001229405.1:p.Lys293Arg, NP_001229401.1:p.Lys293Arg, NP_001229404.1:p.Lys293Arg, XP_047294522.1:p.Lys293Arg

    2.

    rs1486882575 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A,G [Show Flanks]
      Chromosome:
      19:36877169 (GRCh38)
      19:37368071 (GRCh37)
      Canonical SPDI:
      NC_000019.10:36877168:T:A,NC_000019.10:36877168:T:G
      Gene:
      ZNF345 (Varview)
      Functional Consequence:
      synonymous_variant,intron_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000007/1 (GnomAD)
      G=0.000008/2 (TOPMED)
      HGVS:
      NC_000019.10:g.36877169T>A, NC_000019.10:g.36877169T>G, NC_000019.9:g.37368071T>A, NC_000019.9:g.37368071T>G, NM_003419.5:c.339T>A, NM_003419.5:c.339T>G, NM_003419.4:c.339T>A, NM_003419.4:c.339T>G, XM_011526704.4:c.339T>A, XM_011526704.4:c.339T>G, XM_011526704.3:c.339T>A, XM_011526704.3:c.339T>G, XM_011526704.2:c.339T>A, XM_011526704.2:c.339T>G, XM_011526704.1:c.339T>A, XM_011526704.1:c.339T>G, XM_017026572.3:c.339T>A, XM_017026572.3:c.339T>G, XM_017026572.2:c.339T>A, XM_017026572.2:c.339T>G, XM_017026572.1:c.339T>A, XM_017026572.1:c.339T>G, XM_017026570.3:c.339T>A, XM_017026570.3:c.339T>G, XM_017026570.2:c.339T>A, XM_017026570.2:c.339T>G, XM_017026570.1:c.339T>A, XM_017026570.1:c.339T>G, XM_017026571.3:c.339T>A, XM_017026571.3:c.339T>G, XM_017026571.2:c.339T>A, XM_017026571.2:c.339T>G, XM_017026571.1:c.339T>A, XM_017026571.1:c.339T>G, XM_017026569.3:c.339T>A, XM_017026569.3:c.339T>G, XM_017026569.2:c.339T>A, XM_017026569.2:c.339T>G, XM_017026569.1:c.339T>A, XM_017026569.1:c.339T>G, XM_017026568.2:c.339T>A, XM_017026568.2:c.339T>G, XM_017026568.1:c.339T>A, XM_017026568.1:c.339T>G, XM_017026573.2:c.339T>A, XM_017026573.2:c.339T>G, XM_017026573.1:c.339T>A, XM_017026573.1:c.339T>G, NM_001242474.2:c.339T>A, NM_001242474.2:c.339T>G, NM_001242474.1:c.339T>A, NM_001242474.1:c.339T>G, NM_001242476.2:c.339T>A, NM_001242476.2:c.339T>G, NM_001242476.1:c.339T>A, NM_001242476.1:c.339T>G, NM_001242472.2:c.339T>A, NM_001242472.2:c.339T>G, NM_001242472.1:c.339T>A, NM_001242472.1:c.339T>G, NM_001242475.2:c.339T>A, NM_001242475.2:c.339T>G, NM_001242475.1:c.339T>A, NM_001242475.1:c.339T>G, XM_047438566.1:c.339T>A, XM_047438566.1:c.339T>G

      3.

      rs1484655069 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        19:36877806 (GRCh38)
        19:37368708 (GRCh37)
        Canonical SPDI:
        NC_000019.10:36877805:G:A
        Gene:
        ZNF345 (Varview)
        Functional Consequence:
        missense_variant,intron_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0./0 (GnomAD)
        A=0.000008/2 (TOPMED)
        A=0.000012/3 (GnomAD_exomes)
        HGVS:
        NC_000019.10:g.36877806G>A, NC_000019.9:g.37368708G>A, NM_003419.5:c.976G>A, NM_003419.4:c.976G>A, XM_011526704.4:c.976G>A, XM_011526704.3:c.976G>A, XM_011526704.2:c.976G>A, XM_011526704.1:c.976G>A, XM_017026572.3:c.976G>A, XM_017026572.2:c.976G>A, XM_017026572.1:c.976G>A, XM_017026570.3:c.976G>A, XM_017026570.2:c.976G>A, XM_017026570.1:c.976G>A, XM_017026571.3:c.976G>A, XM_017026571.2:c.976G>A, XM_017026571.1:c.976G>A, XM_017026569.3:c.976G>A, XM_017026569.2:c.976G>A, XM_017026569.1:c.976G>A, XM_017026568.2:c.976G>A, XM_017026568.1:c.976G>A, XM_017026573.2:c.976G>A, XM_017026573.1:c.976G>A, NM_001242474.2:c.976G>A, NM_001242474.1:c.976G>A, NM_001242476.2:c.976G>A, NM_001242476.1:c.976G>A, NM_001242472.2:c.976G>A, NM_001242472.1:c.976G>A, NM_001242475.2:c.976G>A, NM_001242475.1:c.976G>A, XM_047438566.1:c.976G>A, NP_003410.1:p.Gly326Ser, XP_011525006.1:p.Gly326Ser, XP_016882061.1:p.Gly326Ser, XP_016882059.1:p.Gly326Ser, XP_016882060.1:p.Gly326Ser, XP_016882058.1:p.Gly326Ser, XP_016882057.1:p.Gly326Ser, XP_016882062.1:p.Gly326Ser, NP_001229403.1:p.Gly326Ser, NP_001229405.1:p.Gly326Ser, NP_001229401.1:p.Gly326Ser, NP_001229404.1:p.Gly326Ser, XP_047294522.1:p.Gly326Ser

        4.

        rs1483485270 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          19:36878155 (GRCh38)
          19:37369057 (GRCh37)
          Canonical SPDI:
          NC_000019.10:36878154:C:G,NC_000019.10:36878154:C:T
          Gene:
          ZNF345 (Varview)
          Functional Consequence:
          missense_variant,intron_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          HGVS:
          NC_000019.10:g.36878155C>G, NC_000019.10:g.36878155C>T, NC_000019.9:g.37369057C>G, NC_000019.9:g.37369057C>T, NM_003419.5:c.1325C>G, NM_003419.5:c.1325C>T, NM_003419.4:c.1325C>G, NM_003419.4:c.1325C>T, XM_011526704.4:c.1325C>G, XM_011526704.4:c.1325C>T, XM_011526704.3:c.1325C>G, XM_011526704.3:c.1325C>T, XM_011526704.2:c.1325C>G, XM_011526704.2:c.1325C>T, XM_011526704.1:c.1325C>G, XM_011526704.1:c.1325C>T, XM_017026572.3:c.1325C>G, XM_017026572.3:c.1325C>T, XM_017026572.2:c.1325C>G, XM_017026572.2:c.1325C>T, XM_017026572.1:c.1325C>G, XM_017026572.1:c.1325C>T, XM_017026570.3:c.1325C>G, XM_017026570.3:c.1325C>T, XM_017026570.2:c.1325C>G, XM_017026570.2:c.1325C>T, XM_017026570.1:c.1325C>G, XM_017026570.1:c.1325C>T, XM_017026571.3:c.1325C>G, XM_017026571.3:c.1325C>T, XM_017026571.2:c.1325C>G, XM_017026571.2:c.1325C>T, XM_017026571.1:c.1325C>G, XM_017026571.1:c.1325C>T, XM_017026569.3:c.1325C>G, XM_017026569.3:c.1325C>T, XM_017026569.2:c.1325C>G, XM_017026569.2:c.1325C>T, XM_017026569.1:c.1325C>G, XM_017026569.1:c.1325C>T, XM_017026568.2:c.1325C>G, XM_017026568.2:c.1325C>T, XM_017026568.1:c.1325C>G, XM_017026568.1:c.1325C>T, XM_017026573.2:c.1325C>G, XM_017026573.2:c.1325C>T, XM_017026573.1:c.1325C>G, XM_017026573.1:c.1325C>T, NM_001242474.2:c.1325C>G, NM_001242474.2:c.1325C>T, NM_001242474.1:c.1325C>G, NM_001242474.1:c.1325C>T, NM_001242476.2:c.1325C>G, NM_001242476.2:c.1325C>T, NM_001242476.1:c.1325C>G, NM_001242476.1:c.1325C>T, NM_001242472.2:c.1325C>G, NM_001242472.2:c.1325C>T, NM_001242472.1:c.1325C>G, NM_001242472.1:c.1325C>T, NM_001242475.2:c.1325C>G, NM_001242475.2:c.1325C>T, NM_001242475.1:c.1325C>G, NM_001242475.1:c.1325C>T, XM_047438566.1:c.1325C>G, XM_047438566.1:c.1325C>T, NP_003410.1:p.Thr442Ser, NP_003410.1:p.Thr442Ile, XP_011525006.1:p.Thr442Ser, XP_011525006.1:p.Thr442Ile, XP_016882061.1:p.Thr442Ser, XP_016882061.1:p.Thr442Ile, XP_016882059.1:p.Thr442Ser, XP_016882059.1:p.Thr442Ile, XP_016882060.1:p.Thr442Ser, XP_016882060.1:p.Thr442Ile, XP_016882058.1:p.Thr442Ser, XP_016882058.1:p.Thr442Ile, XP_016882057.1:p.Thr442Ser, XP_016882057.1:p.Thr442Ile, XP_016882062.1:p.Thr442Ser, XP_016882062.1:p.Thr442Ile, NP_001229403.1:p.Thr442Ser, NP_001229403.1:p.Thr442Ile, NP_001229405.1:p.Thr442Ser, NP_001229405.1:p.Thr442Ile, NP_001229401.1:p.Thr442Ser, NP_001229401.1:p.Thr442Ile, NP_001229404.1:p.Thr442Ser, NP_001229404.1:p.Thr442Ile, XP_047294522.1:p.Thr442Ser, XP_047294522.1:p.Thr442Ile

          5.

          rs1483393760 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            19:36877020 (GRCh38)
            19:37367922 (GRCh37)
            Canonical SPDI:
            NC_000019.10:36877019:T:C
            Gene:
            ZNF345 (Varview)
            Functional Consequence:
            missense_variant,intron_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000008/2 (TOPMED)
            C=0.000014/2 (GnomAD)
            HGVS:
            NC_000019.10:g.36877020T>C, NC_000019.9:g.37367922T>C, NM_003419.5:c.190T>C, NM_003419.4:c.190T>C, XM_011526704.4:c.190T>C, XM_011526704.3:c.190T>C, XM_011526704.2:c.190T>C, XM_011526704.1:c.190T>C, XM_017026572.3:c.190T>C, XM_017026572.2:c.190T>C, XM_017026572.1:c.190T>C, XM_017026570.3:c.190T>C, XM_017026570.2:c.190T>C, XM_017026570.1:c.190T>C, XM_017026571.3:c.190T>C, XM_017026571.2:c.190T>C, XM_017026571.1:c.190T>C, XM_017026569.3:c.190T>C, XM_017026569.2:c.190T>C, XM_017026569.1:c.190T>C, XM_017026568.2:c.190T>C, XM_017026568.1:c.190T>C, XM_017026573.2:c.190T>C, XM_017026573.1:c.190T>C, NM_001242474.2:c.190T>C, NM_001242474.1:c.190T>C, NM_001242476.2:c.190T>C, NM_001242476.1:c.190T>C, NM_001242472.2:c.190T>C, NM_001242472.1:c.190T>C, NM_001242475.2:c.190T>C, NM_001242475.1:c.190T>C, XM_047438566.1:c.190T>C, NP_003410.1:p.Cys64Arg, XP_011525006.1:p.Cys64Arg, XP_016882061.1:p.Cys64Arg, XP_016882059.1:p.Cys64Arg, XP_016882060.1:p.Cys64Arg, XP_016882058.1:p.Cys64Arg, XP_016882057.1:p.Cys64Arg, XP_016882062.1:p.Cys64Arg, NP_001229403.1:p.Cys64Arg, NP_001229405.1:p.Cys64Arg, NP_001229401.1:p.Cys64Arg, NP_001229404.1:p.Cys64Arg, XP_047294522.1:p.Cys64Arg

            6.

            rs1482686821 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              19:36877092 (GRCh38)
              19:37367994 (GRCh37)
              Canonical SPDI:
              NC_000019.10:36877091:A:T
              Gene:
              ZNF345 (Varview)
              Functional Consequence:
              stop_gained,intron_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0.000111/1 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000019.10:g.36877092A>T, NC_000019.9:g.37367994A>T, NM_003419.5:c.262A>T, NM_003419.4:c.262A>T, XM_011526704.4:c.262A>T, XM_011526704.3:c.262A>T, XM_011526704.2:c.262A>T, XM_011526704.1:c.262A>T, XM_017026572.3:c.262A>T, XM_017026572.2:c.262A>T, XM_017026572.1:c.262A>T, XM_017026570.3:c.262A>T, XM_017026570.2:c.262A>T, XM_017026570.1:c.262A>T, XM_017026571.3:c.262A>T, XM_017026571.2:c.262A>T, XM_017026571.1:c.262A>T, XM_017026569.3:c.262A>T, XM_017026569.2:c.262A>T, XM_017026569.1:c.262A>T, XM_017026568.2:c.262A>T, XM_017026568.1:c.262A>T, XM_017026573.2:c.262A>T, XM_017026573.1:c.262A>T, NM_001242474.2:c.262A>T, NM_001242474.1:c.262A>T, NM_001242476.2:c.262A>T, NM_001242476.1:c.262A>T, NM_001242472.2:c.262A>T, NM_001242472.1:c.262A>T, NM_001242475.2:c.262A>T, NM_001242475.1:c.262A>T, XM_047438566.1:c.262A>T, NP_003410.1:p.Lys88Ter, XP_011525006.1:p.Lys88Ter, XP_016882061.1:p.Lys88Ter, XP_016882059.1:p.Lys88Ter, XP_016882060.1:p.Lys88Ter, XP_016882058.1:p.Lys88Ter, XP_016882057.1:p.Lys88Ter, XP_016882062.1:p.Lys88Ter, NP_001229403.1:p.Lys88Ter, NP_001229405.1:p.Lys88Ter, NP_001229401.1:p.Lys88Ter, NP_001229404.1:p.Lys88Ter, XP_047294522.1:p.Lys88Ter

              7.

              rs1479486911 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                19:36878222 (GRCh38)
                19:37369124 (GRCh37)
                Canonical SPDI:
                NC_000019.10:36878221:G:A
                Gene:
                ZNF345 (Varview)
                Functional Consequence:
                synonymous_variant,intron_variant,coding_sequence_variant
                HGVS:
                NC_000019.10:g.36878222G>A, NC_000019.9:g.37369124G>A, NM_003419.5:c.1392G>A, NM_003419.4:c.1392G>A, XM_011526704.4:c.1392G>A, XM_011526704.3:c.1392G>A, XM_011526704.2:c.1392G>A, XM_011526704.1:c.1392G>A, XM_017026572.3:c.1392G>A, XM_017026572.2:c.1392G>A, XM_017026572.1:c.1392G>A, XM_017026570.3:c.1392G>A, XM_017026570.2:c.1392G>A, XM_017026570.1:c.1392G>A, XM_017026571.3:c.1392G>A, XM_017026571.2:c.1392G>A, XM_017026571.1:c.1392G>A, XM_017026569.3:c.1392G>A, XM_017026569.2:c.1392G>A, XM_017026569.1:c.1392G>A, XM_017026568.2:c.1392G>A, XM_017026568.1:c.1392G>A, XM_017026573.2:c.1392G>A, XM_017026573.1:c.1392G>A, NM_001242474.2:c.1392G>A, NM_001242474.1:c.1392G>A, NM_001242476.2:c.1392G>A, NM_001242476.1:c.1392G>A, NM_001242472.2:c.1392G>A, NM_001242472.1:c.1392G>A, NM_001242475.2:c.1392G>A, NM_001242475.1:c.1392G>A, XM_047438566.1:c.1392G>A

                8.

                rs1478395059 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  19:36878125 (GRCh38)
                  19:37369027 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:36878124:G:A
                  Gene:
                  ZNF345 (Varview)
                  Functional Consequence:
                  missense_variant,intron_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0.000047/1 (ALFA)
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000019.10:g.36878125G>A, NC_000019.9:g.37369027G>A, NM_003419.5:c.1295G>A, NM_003419.4:c.1295G>A, XM_011526704.4:c.1295G>A, XM_011526704.3:c.1295G>A, XM_011526704.2:c.1295G>A, XM_011526704.1:c.1295G>A, XM_017026572.3:c.1295G>A, XM_017026572.2:c.1295G>A, XM_017026572.1:c.1295G>A, XM_017026570.3:c.1295G>A, XM_017026570.2:c.1295G>A, XM_017026570.1:c.1295G>A, XM_017026571.3:c.1295G>A, XM_017026571.2:c.1295G>A, XM_017026571.1:c.1295G>A, XM_017026569.3:c.1295G>A, XM_017026569.2:c.1295G>A, XM_017026569.1:c.1295G>A, XM_017026568.2:c.1295G>A, XM_017026568.1:c.1295G>A, XM_017026573.2:c.1295G>A, XM_017026573.1:c.1295G>A, NM_001242474.2:c.1295G>A, NM_001242474.1:c.1295G>A, NM_001242476.2:c.1295G>A, NM_001242476.1:c.1295G>A, NM_001242472.2:c.1295G>A, NM_001242472.1:c.1295G>A, NM_001242475.2:c.1295G>A, NM_001242475.1:c.1295G>A, XM_047438566.1:c.1295G>A, NP_003410.1:p.Gly432Glu, XP_011525006.1:p.Gly432Glu, XP_016882061.1:p.Gly432Glu, XP_016882059.1:p.Gly432Glu, XP_016882060.1:p.Gly432Glu, XP_016882058.1:p.Gly432Glu, XP_016882057.1:p.Gly432Glu, XP_016882062.1:p.Gly432Glu, NP_001229403.1:p.Gly432Glu, NP_001229405.1:p.Gly432Glu, NP_001229401.1:p.Gly432Glu, NP_001229404.1:p.Gly432Glu, XP_047294522.1:p.Gly432Glu

                  9.

                  rs1478035851 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>T [Show Flanks]
                    Chromosome:
                    19:36878161 (GRCh38)
                    19:37369063 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:36878160:A:T
                    Gene:
                    ZNF345 (Varview)
                    Functional Consequence:
                    missense_variant,intron_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    HGVS:
                    NC_000019.10:g.36878161A>T, NC_000019.9:g.37369063A>T, NM_003419.5:c.1331A>T, NM_003419.4:c.1331A>T, XM_011526704.4:c.1331A>T, XM_011526704.3:c.1331A>T, XM_011526704.2:c.1331A>T, XM_011526704.1:c.1331A>T, XM_017026572.3:c.1331A>T, XM_017026572.2:c.1331A>T, XM_017026572.1:c.1331A>T, XM_017026570.3:c.1331A>T, XM_017026570.2:c.1331A>T, XM_017026570.1:c.1331A>T, XM_017026571.3:c.1331A>T, XM_017026571.2:c.1331A>T, XM_017026571.1:c.1331A>T, XM_017026569.3:c.1331A>T, XM_017026569.2:c.1331A>T, XM_017026569.1:c.1331A>T, XM_017026568.2:c.1331A>T, XM_017026568.1:c.1331A>T, XM_017026573.2:c.1331A>T, XM_017026573.1:c.1331A>T, NM_001242474.2:c.1331A>T, NM_001242474.1:c.1331A>T, NM_001242476.2:c.1331A>T, NM_001242476.1:c.1331A>T, NM_001242472.2:c.1331A>T, NM_001242472.1:c.1331A>T, NM_001242475.2:c.1331A>T, NM_001242475.1:c.1331A>T, XM_047438566.1:c.1331A>T, NP_003410.1:p.His444Leu, XP_011525006.1:p.His444Leu, XP_016882061.1:p.His444Leu, XP_016882059.1:p.His444Leu, XP_016882060.1:p.His444Leu, XP_016882058.1:p.His444Leu, XP_016882057.1:p.His444Leu, XP_016882062.1:p.His444Leu, NP_001229403.1:p.His444Leu, NP_001229405.1:p.His444Leu, NP_001229401.1:p.His444Leu, NP_001229404.1:p.His444Leu, XP_047294522.1:p.His444Leu

                    10.

                    rs1477160194 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      19:36877371 (GRCh38)
                      19:37368273 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:36877370:A:T
                      Gene:
                      ZNF345 (Varview)
                      Functional Consequence:
                      stop_gained,intron_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000019.10:g.36877371A>T, NC_000019.9:g.37368273A>T, NM_003419.5:c.541A>T, NM_003419.4:c.541A>T, XM_011526704.4:c.541A>T, XM_011526704.3:c.541A>T, XM_011526704.2:c.541A>T, XM_011526704.1:c.541A>T, XM_017026572.3:c.541A>T, XM_017026572.2:c.541A>T, XM_017026572.1:c.541A>T, XM_017026570.3:c.541A>T, XM_017026570.2:c.541A>T, XM_017026570.1:c.541A>T, XM_017026571.3:c.541A>T, XM_017026571.2:c.541A>T, XM_017026571.1:c.541A>T, XM_017026569.3:c.541A>T, XM_017026569.2:c.541A>T, XM_017026569.1:c.541A>T, XM_017026568.2:c.541A>T, XM_017026568.1:c.541A>T, XM_017026573.2:c.541A>T, XM_017026573.1:c.541A>T, NM_001242474.2:c.541A>T, NM_001242474.1:c.541A>T, NM_001242476.2:c.541A>T, NM_001242476.1:c.541A>T, NM_001242472.2:c.541A>T, NM_001242472.1:c.541A>T, NM_001242475.2:c.541A>T, NM_001242475.1:c.541A>T, XM_047438566.1:c.541A>T, NP_003410.1:p.Lys181Ter, XP_011525006.1:p.Lys181Ter, XP_016882061.1:p.Lys181Ter, XP_016882059.1:p.Lys181Ter, XP_016882060.1:p.Lys181Ter, XP_016882058.1:p.Lys181Ter, XP_016882057.1:p.Lys181Ter, XP_016882062.1:p.Lys181Ter, NP_001229403.1:p.Lys181Ter, NP_001229405.1:p.Lys181Ter, NP_001229401.1:p.Lys181Ter, NP_001229404.1:p.Lys181Ter, XP_047294522.1:p.Lys181Ter

                      11.

                      rs1477054965 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        19:36876983 (GRCh38)
                        19:37367885 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:36876982:G:A
                        Gene:
                        ZNF345 (Varview)
                        Functional Consequence:
                        synonymous_variant,intron_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000021/3 (GnomAD)
                        HGVS:
                        NC_000019.10:g.36876983G>A, NC_000019.9:g.37367885G>A, NM_003419.5:c.153G>A, NM_003419.4:c.153G>A, XM_011526704.4:c.153G>A, XM_011526704.3:c.153G>A, XM_011526704.2:c.153G>A, XM_011526704.1:c.153G>A, XM_017026572.3:c.153G>A, XM_017026572.2:c.153G>A, XM_017026572.1:c.153G>A, XM_017026570.3:c.153G>A, XM_017026570.2:c.153G>A, XM_017026570.1:c.153G>A, XM_017026571.3:c.153G>A, XM_017026571.2:c.153G>A, XM_017026571.1:c.153G>A, XM_017026569.3:c.153G>A, XM_017026569.2:c.153G>A, XM_017026569.1:c.153G>A, XM_017026568.2:c.153G>A, XM_017026568.1:c.153G>A, XM_017026573.2:c.153G>A, XM_017026573.1:c.153G>A, NM_001242474.2:c.153G>A, NM_001242474.1:c.153G>A, NM_001242476.2:c.153G>A, NM_001242476.1:c.153G>A, NM_001242472.2:c.153G>A, NM_001242472.1:c.153G>A, NM_001242475.2:c.153G>A, NM_001242475.1:c.153G>A, XM_047438566.1:c.153G>A

                        12.

                        rs1476441455 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          19:36877921 (GRCh38)
                          19:37368823 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:36877920:A:G
                          Gene:
                          ZNF345 (Varview)
                          Functional Consequence:
                          missense_variant,intron_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000019.10:g.36877921A>G, NC_000019.9:g.37368823A>G, NM_003419.5:c.1091A>G, NM_003419.4:c.1091A>G, XM_011526704.4:c.1091A>G, XM_011526704.3:c.1091A>G, XM_011526704.2:c.1091A>G, XM_011526704.1:c.1091A>G, XM_017026572.3:c.1091A>G, XM_017026572.2:c.1091A>G, XM_017026572.1:c.1091A>G, XM_017026570.3:c.1091A>G, XM_017026570.2:c.1091A>G, XM_017026570.1:c.1091A>G, XM_017026571.3:c.1091A>G, XM_017026571.2:c.1091A>G, XM_017026571.1:c.1091A>G, XM_017026569.3:c.1091A>G, XM_017026569.2:c.1091A>G, XM_017026569.1:c.1091A>G, XM_017026568.2:c.1091A>G, XM_017026568.1:c.1091A>G, XM_017026573.2:c.1091A>G, XM_017026573.1:c.1091A>G, NM_001242474.2:c.1091A>G, NM_001242474.1:c.1091A>G, NM_001242476.2:c.1091A>G, NM_001242476.1:c.1091A>G, NM_001242472.2:c.1091A>G, NM_001242472.1:c.1091A>G, NM_001242475.2:c.1091A>G, NM_001242475.1:c.1091A>G, XM_047438566.1:c.1091A>G, NP_003410.1:p.His364Arg, XP_011525006.1:p.His364Arg, XP_016882061.1:p.His364Arg, XP_016882059.1:p.His364Arg, XP_016882060.1:p.His364Arg, XP_016882058.1:p.His364Arg, XP_016882057.1:p.His364Arg, XP_016882062.1:p.His364Arg, NP_001229403.1:p.His364Arg, NP_001229405.1:p.His364Arg, NP_001229401.1:p.His364Arg, NP_001229404.1:p.His364Arg, XP_047294522.1:p.His364Arg

                          13.

                          rs1476428770 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            19:36877387 (GRCh38)
                            19:37368289 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:36877386:A:G
                            Gene:
                            ZNF345 (Varview)
                            Functional Consequence:
                            missense_variant,intron_variant,coding_sequence_variant
                            HGVS:
                            NC_000019.10:g.36877387A>G, NC_000019.9:g.37368289A>G, NM_003419.5:c.557A>G, NM_003419.4:c.557A>G, XM_011526704.4:c.557A>G, XM_011526704.3:c.557A>G, XM_011526704.2:c.557A>G, XM_011526704.1:c.557A>G, XM_017026572.3:c.557A>G, XM_017026572.2:c.557A>G, XM_017026572.1:c.557A>G, XM_017026570.3:c.557A>G, XM_017026570.2:c.557A>G, XM_017026570.1:c.557A>G, XM_017026571.3:c.557A>G, XM_017026571.2:c.557A>G, XM_017026571.1:c.557A>G, XM_017026569.3:c.557A>G, XM_017026569.2:c.557A>G, XM_017026569.1:c.557A>G, XM_017026568.2:c.557A>G, XM_017026568.1:c.557A>G, XM_017026573.2:c.557A>G, XM_017026573.1:c.557A>G, NM_001242474.2:c.557A>G, NM_001242474.1:c.557A>G, NM_001242476.2:c.557A>G, NM_001242476.1:c.557A>G, NM_001242472.2:c.557A>G, NM_001242472.1:c.557A>G, NM_001242475.2:c.557A>G, NM_001242475.1:c.557A>G, XM_047438566.1:c.557A>G, NP_003410.1:p.Glu186Gly, XP_011525006.1:p.Glu186Gly, XP_016882061.1:p.Glu186Gly, XP_016882059.1:p.Glu186Gly, XP_016882060.1:p.Glu186Gly, XP_016882058.1:p.Glu186Gly, XP_016882057.1:p.Glu186Gly, XP_016882062.1:p.Glu186Gly, NP_001229403.1:p.Glu186Gly, NP_001229405.1:p.Glu186Gly, NP_001229401.1:p.Glu186Gly, NP_001229404.1:p.Glu186Gly, XP_047294522.1:p.Glu186Gly

                            14.

                            rs1474207964 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              19:36877459 (GRCh38)
                              19:37368361 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:36877458:C:T
                              Gene:
                              ZNF345 (Varview)
                              Functional Consequence:
                              missense_variant,intron_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000019.10:g.36877459C>T, NC_000019.9:g.37368361C>T, NM_003419.5:c.629C>T, NM_003419.4:c.629C>T, XM_011526704.4:c.629C>T, XM_011526704.3:c.629C>T, XM_011526704.2:c.629C>T, XM_011526704.1:c.629C>T, XM_017026572.3:c.629C>T, XM_017026572.2:c.629C>T, XM_017026572.1:c.629C>T, XM_017026570.3:c.629C>T, XM_017026570.2:c.629C>T, XM_017026570.1:c.629C>T, XM_017026571.3:c.629C>T, XM_017026571.2:c.629C>T, XM_017026571.1:c.629C>T, XM_017026569.3:c.629C>T, XM_017026569.2:c.629C>T, XM_017026569.1:c.629C>T, XM_017026568.2:c.629C>T, XM_017026568.1:c.629C>T, XM_017026573.2:c.629C>T, XM_017026573.1:c.629C>T, NM_001242474.2:c.629C>T, NM_001242474.1:c.629C>T, NM_001242476.2:c.629C>T, NM_001242476.1:c.629C>T, NM_001242472.2:c.629C>T, NM_001242472.1:c.629C>T, NM_001242475.2:c.629C>T, NM_001242475.1:c.629C>T, XM_047438566.1:c.629C>T, NP_003410.1:p.Ala210Val, XP_011525006.1:p.Ala210Val, XP_016882061.1:p.Ala210Val, XP_016882059.1:p.Ala210Val, XP_016882060.1:p.Ala210Val, XP_016882058.1:p.Ala210Val, XP_016882057.1:p.Ala210Val, XP_016882062.1:p.Ala210Val, NP_001229403.1:p.Ala210Val, NP_001229405.1:p.Ala210Val, NP_001229401.1:p.Ala210Val, NP_001229404.1:p.Ala210Val, XP_047294522.1:p.Ala210Val

                              15.

                              rs1473628932 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                G>- [Show Flanks]
                                Chromosome:
                                19:36878117 (GRCh38)
                                19:37369019 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:36878116:GG:G
                                Gene:
                                ZNF345 (Varview)
                                Functional Consequence:
                                frameshift_variant,intron_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                GG=0./0 (ALFA)
                                -=0.000004/1 (TOPMED)
                                -=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000019.10:g.36878118del, NC_000019.9:g.37369020del, NM_003419.5:c.1288del, NM_003419.4:c.1288del, XM_011526704.4:c.1288del, XM_011526704.3:c.1288del, XM_011526704.2:c.1288del, XM_011526704.1:c.1288del, XM_017026572.3:c.1288del, XM_017026572.2:c.1288del, XM_017026572.1:c.1288del, XM_017026570.3:c.1288del, XM_017026570.2:c.1288del, XM_017026570.1:c.1288del, XM_017026571.3:c.1288del, XM_017026571.2:c.1288del, XM_017026571.1:c.1288del, XM_017026569.3:c.1288del, XM_017026569.2:c.1288del, XM_017026569.1:c.1288del, XM_017026568.2:c.1288del, XM_017026568.1:c.1288del, XM_017026573.2:c.1288del, XM_017026573.1:c.1288del, NM_001242474.2:c.1288del, NM_001242474.1:c.1288del, NM_001242476.2:c.1288del, NM_001242476.1:c.1288del, NM_001242472.2:c.1288del, NM_001242472.1:c.1288del, NM_001242475.2:c.1288del, NM_001242475.1:c.1288del, XM_047438566.1:c.1288del, NP_003410.1:p.Glu430fs, XP_011525006.1:p.Glu430fs, XP_016882061.1:p.Glu430fs, XP_016882059.1:p.Glu430fs, XP_016882060.1:p.Glu430fs, XP_016882058.1:p.Glu430fs, XP_016882057.1:p.Glu430fs, XP_016882062.1:p.Glu430fs, NP_001229403.1:p.Glu430fs, NP_001229405.1:p.Glu430fs, NP_001229401.1:p.Glu430fs, NP_001229404.1:p.Glu430fs, XP_047294522.1:p.Glu430fs

                                16.

                                rs1471717061 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  19:36877081 (GRCh38)
                                  19:37367983 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:36877080:A:T
                                  Gene:
                                  ZNF345 (Varview)
                                  Functional Consequence:
                                  missense_variant,intron_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0.000071/1 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000019.10:g.36877081A>T, NC_000019.9:g.37367983A>T, NM_003419.5:c.251A>T, NM_003419.4:c.251A>T, XM_011526704.4:c.251A>T, XM_011526704.3:c.251A>T, XM_011526704.2:c.251A>T, XM_011526704.1:c.251A>T, XM_017026572.3:c.251A>T, XM_017026572.2:c.251A>T, XM_017026572.1:c.251A>T, XM_017026570.3:c.251A>T, XM_017026570.2:c.251A>T, XM_017026570.1:c.251A>T, XM_017026571.3:c.251A>T, XM_017026571.2:c.251A>T, XM_017026571.1:c.251A>T, XM_017026569.3:c.251A>T, XM_017026569.2:c.251A>T, XM_017026569.1:c.251A>T, XM_017026568.2:c.251A>T, XM_017026568.1:c.251A>T, XM_017026573.2:c.251A>T, XM_017026573.1:c.251A>T, NM_001242474.2:c.251A>T, NM_001242474.1:c.251A>T, NM_001242476.2:c.251A>T, NM_001242476.1:c.251A>T, NM_001242472.2:c.251A>T, NM_001242472.1:c.251A>T, NM_001242475.2:c.251A>T, NM_001242475.1:c.251A>T, XM_047438566.1:c.251A>T, NP_003410.1:p.His84Leu, XP_011525006.1:p.His84Leu, XP_016882061.1:p.His84Leu, XP_016882059.1:p.His84Leu, XP_016882060.1:p.His84Leu, XP_016882058.1:p.His84Leu, XP_016882057.1:p.His84Leu, XP_016882062.1:p.His84Leu, NP_001229403.1:p.His84Leu, NP_001229405.1:p.His84Leu, NP_001229401.1:p.His84Leu, NP_001229404.1:p.His84Leu, XP_047294522.1:p.His84Leu

                                  17.

                                  rs1466401288 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    19:36877937 (GRCh38)
                                    19:37368839 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:36877936:C:T
                                    Gene:
                                    ZNF345 (Varview)
                                    Functional Consequence:
                                    intron_variant,coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    HGVS:
                                    NC_000019.10:g.36877937C>T, NC_000019.9:g.37368839C>T, NM_003419.5:c.1107C>T, NM_003419.4:c.1107C>T, XM_011526704.4:c.1107C>T, XM_011526704.3:c.1107C>T, XM_011526704.2:c.1107C>T, XM_011526704.1:c.1107C>T, XM_017026572.3:c.1107C>T, XM_017026572.2:c.1107C>T, XM_017026572.1:c.1107C>T, XM_017026570.3:c.1107C>T, XM_017026570.2:c.1107C>T, XM_017026570.1:c.1107C>T, XM_017026571.3:c.1107C>T, XM_017026571.2:c.1107C>T, XM_017026571.1:c.1107C>T, XM_017026569.3:c.1107C>T, XM_017026569.2:c.1107C>T, XM_017026569.1:c.1107C>T, XM_017026568.2:c.1107C>T, XM_017026568.1:c.1107C>T, XM_017026573.2:c.1107C>T, XM_017026573.1:c.1107C>T, NM_001242474.2:c.1107C>T, NM_001242474.1:c.1107C>T, NM_001242476.2:c.1107C>T, NM_001242476.1:c.1107C>T, NM_001242472.2:c.1107C>T, NM_001242472.1:c.1107C>T, NM_001242475.2:c.1107C>T, NM_001242475.1:c.1107C>T, XM_047438566.1:c.1107C>T

                                    18.

                                    rs1462982830 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      19:36876916 (GRCh38)
                                      19:37367818 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:36876915:G:A
                                      Gene:
                                      ZNF345 (Varview)
                                      Functional Consequence:
                                      intron_variant,coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000019.10:g.36876916G>A, NC_000019.9:g.37367818G>A, NM_003419.5:c.86G>A, NM_003419.4:c.86G>A, XM_011526704.4:c.86G>A, XM_011526704.3:c.86G>A, XM_011526704.2:c.86G>A, XM_011526704.1:c.86G>A, XM_017026572.3:c.86G>A, XM_017026572.2:c.86G>A, XM_017026572.1:c.86G>A, XM_017026570.3:c.86G>A, XM_017026570.2:c.86G>A, XM_017026570.1:c.86G>A, XM_017026571.3:c.86G>A, XM_017026571.2:c.86G>A, XM_017026571.1:c.86G>A, XM_017026569.3:c.86G>A, XM_017026569.2:c.86G>A, XM_017026569.1:c.86G>A, XM_017026568.2:c.86G>A, XM_017026568.1:c.86G>A, XM_017026573.2:c.86G>A, XM_017026573.1:c.86G>A, NM_001242474.2:c.86G>A, NM_001242474.1:c.86G>A, NM_001242476.2:c.86G>A, NM_001242476.1:c.86G>A, NM_001242472.2:c.86G>A, NM_001242472.1:c.86G>A, NM_001242475.2:c.86G>A, NM_001242475.1:c.86G>A, XM_047438566.1:c.86G>A, NP_003410.1:p.Gly29Glu, XP_011525006.1:p.Gly29Glu, XP_016882061.1:p.Gly29Glu, XP_016882059.1:p.Gly29Glu, XP_016882060.1:p.Gly29Glu, XP_016882058.1:p.Gly29Glu, XP_016882057.1:p.Gly29Glu, XP_016882062.1:p.Gly29Glu, NP_001229403.1:p.Gly29Glu, NP_001229405.1:p.Gly29Glu, NP_001229401.1:p.Gly29Glu, NP_001229404.1:p.Gly29Glu, XP_047294522.1:p.Gly29Glu

                                      19.

                                      rs1462096692 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        19:36876937 (GRCh38)
                                        19:37367839 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:36876936:G:A
                                        Gene:
                                        ZNF345 (Varview)
                                        Functional Consequence:
                                        intron_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000071/1 (ALFA)
                                        A=0.000015/4 (TOPMED)
                                        A=0.000342/1 (KOREAN)
                                        HGVS:
                                        NC_000019.10:g.36876937G>A, NC_000019.9:g.37367839G>A, NM_003419.5:c.107G>A, NM_003419.4:c.107G>A, XM_011526704.4:c.107G>A, XM_011526704.3:c.107G>A, XM_011526704.2:c.107G>A, XM_011526704.1:c.107G>A, XM_017026572.3:c.107G>A, XM_017026572.2:c.107G>A, XM_017026572.1:c.107G>A, XM_017026570.3:c.107G>A, XM_017026570.2:c.107G>A, XM_017026570.1:c.107G>A, XM_017026571.3:c.107G>A, XM_017026571.2:c.107G>A, XM_017026571.1:c.107G>A, XM_017026569.3:c.107G>A, XM_017026569.2:c.107G>A, XM_017026569.1:c.107G>A, XM_017026568.2:c.107G>A, XM_017026568.1:c.107G>A, XM_017026573.2:c.107G>A, XM_017026573.1:c.107G>A, NM_001242474.2:c.107G>A, NM_001242474.1:c.107G>A, NM_001242476.2:c.107G>A, NM_001242476.1:c.107G>A, NM_001242472.2:c.107G>A, NM_001242472.1:c.107G>A, NM_001242475.2:c.107G>A, NM_001242475.1:c.107G>A, XM_047438566.1:c.107G>A, NP_003410.1:p.Ser36Asn, XP_011525006.1:p.Ser36Asn, XP_016882061.1:p.Ser36Asn, XP_016882059.1:p.Ser36Asn, XP_016882060.1:p.Ser36Asn, XP_016882058.1:p.Ser36Asn, XP_016882057.1:p.Ser36Asn, XP_016882062.1:p.Ser36Asn, NP_001229403.1:p.Ser36Asn, NP_001229405.1:p.Ser36Asn, NP_001229401.1:p.Ser36Asn, NP_001229404.1:p.Ser36Asn, XP_047294522.1:p.Ser36Asn

                                        20.

                                        rs1461965575 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          19:36877647 (GRCh38)
                                          19:37368549 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:36877646:C:G
                                          Gene:
                                          ZNF345 (Varview)
                                          Functional Consequence:
                                          intron_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (GnomAD_exomes)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000019.10:g.36877647C>G, NC_000019.9:g.37368549C>G, NM_003419.5:c.817C>G, NM_003419.4:c.817C>G, XM_011526704.4:c.817C>G, XM_011526704.3:c.817C>G, XM_011526704.2:c.817C>G, XM_011526704.1:c.817C>G, XM_017026572.3:c.817C>G, XM_017026572.2:c.817C>G, XM_017026572.1:c.817C>G, XM_017026570.3:c.817C>G, XM_017026570.2:c.817C>G, XM_017026570.1:c.817C>G, XM_017026571.3:c.817C>G, XM_017026571.2:c.817C>G, XM_017026571.1:c.817C>G, XM_017026569.3:c.817C>G, XM_017026569.2:c.817C>G, XM_017026569.1:c.817C>G, XM_017026568.2:c.817C>G, XM_017026568.1:c.817C>G, XM_017026573.2:c.817C>G, XM_017026573.1:c.817C>G, NM_001242474.2:c.817C>G, NM_001242474.1:c.817C>G, NM_001242476.2:c.817C>G, NM_001242476.1:c.817C>G, NM_001242472.2:c.817C>G, NM_001242472.1:c.817C>G, NM_001242475.2:c.817C>G, NM_001242475.1:c.817C>G, XM_047438566.1:c.817C>G, NP_003410.1:p.Leu273Val, XP_011525006.1:p.Leu273Val, XP_016882061.1:p.Leu273Val, XP_016882059.1:p.Leu273Val, XP_016882060.1:p.Leu273Val, XP_016882058.1:p.Leu273Val, XP_016882057.1:p.Leu273Val, XP_016882062.1:p.Leu273Val, NP_001229403.1:p.Leu273Val, NP_001229405.1:p.Leu273Val, NP_001229401.1:p.Leu273Val, NP_001229404.1:p.Leu273Val, XP_047294522.1:p.Leu273Val

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