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Items: 1 to 20 of 604

1.

rs1490835238 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    19:52614097 (GRCh38)
    19:53117350 (GRCh37)
    Canonical SPDI:
    NC_000019.10:52614096:C:T
    Gene:
    ZNF83 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000008/2 (TOPMED)
    HGVS:
    NC_000019.10:g.52614097C>T, NC_000019.9:g.53117350C>T, NG_052996.1:g.81485G>A, NM_018300.4:c.468G>A, NM_018300.3:c.468G>A, NM_001348017.2:c.468G>A, NM_001348017.1:c.468G>A, NM_001348015.2:c.468G>A, NM_001348015.1:c.468G>A, NM_001348019.2:c.468G>A, NM_001348019.1:c.468G>A, NM_001348018.2:c.468G>A, NM_001348018.1:c.468G>A, NM_001277945.2:c.468G>A, NM_001277945.1:c.468G>A, NM_001105549.2:c.468G>A, NM_001105549.1:c.468G>A, NM_001277947.2:c.468G>A, NM_001277947.1:c.468G>A, NM_001277949.2:c.468G>A, NM_001277949.1:c.468G>A, NM_001105551.2:c.468G>A, NM_001105551.1:c.468G>A, NM_001277952.2:c.468G>A, NM_001277952.1:c.468G>A, NM_001105550.2:c.468G>A, NM_001105550.1:c.468G>A, NM_001277948.2:c.468G>A, NM_001277948.1:c.468G>A, NM_001348016.2:c.468G>A, NM_001348016.1:c.468G>A, NM_001277946.2:c.468G>A, NM_001277946.1:c.468G>A, NM_001105552.2:c.468G>A, NM_001105552.1:c.468G>A, NM_001277951.2:c.468G>A, NM_001277951.1:c.468G>A, NR_003936.1:n.1316G>A, NM_001242531.1:c.468G>A, NM_001105553.1:c.468G>A, NM_001242538.1:c.468G>A, NM_001105554.1:c.468G>A

    2.

    rs1490778866 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      19:52613181 (GRCh38)
      19:53116434 (GRCh37)
      Canonical SPDI:
      NC_000019.10:52613180:A:G
      Gene:
      ZNF83 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      G=0.000007/1 (GnomAD)
      G=0.000342/1 (KOREAN)
      G=0.00046/8 (TOMMO)
      HGVS:
      NC_000019.10:g.52613181A>G, NC_000019.9:g.53116434A>G, NG_052996.1:g.82401T>C, NM_018300.4:c.1384T>C, NM_018300.3:c.1384T>C, NM_001348017.2:c.1384T>C, NM_001348017.1:c.1384T>C, NM_001348015.2:c.1384T>C, NM_001348015.1:c.1384T>C, NM_001348019.2:c.1384T>C, NM_001348019.1:c.1384T>C, NM_001348018.2:c.1384T>C, NM_001348018.1:c.1384T>C, NM_001277945.2:c.1384T>C, NM_001277945.1:c.1384T>C, NM_001105549.2:c.1384T>C, NM_001105549.1:c.1384T>C, NM_001277947.2:c.1384T>C, NM_001277947.1:c.1384T>C, NM_001277949.2:c.1384T>C, NM_001277949.1:c.1384T>C, NM_001105551.2:c.1384T>C, NM_001105551.1:c.1384T>C, NM_001277952.2:c.1384T>C, NM_001277952.1:c.1384T>C, NM_001105550.2:c.1384T>C, NM_001105550.1:c.1384T>C, NM_001277948.2:c.1384T>C, NM_001277948.1:c.1384T>C, NM_001348016.2:c.1384T>C, NM_001348016.1:c.1384T>C, NM_001277946.2:c.1384T>C, NM_001277946.1:c.1384T>C, NM_001105552.2:c.1384T>C, NM_001105552.1:c.1384T>C, NM_001277951.2:c.1384T>C, NM_001277951.1:c.1384T>C, NR_003936.1:n.2148T>C, NM_001242531.1:c.1300T>C, NM_001105553.1:c.1300T>C, NM_001242538.1:c.1300T>C, NM_001105554.1:c.1300T>C, NP_060770.3:p.Cys462Arg, NP_001334946.1:p.Cys462Arg, NP_001334944.1:p.Cys462Arg, NP_001334948.1:p.Cys462Arg, NP_001334947.1:p.Cys462Arg, NP_001264874.1:p.Cys462Arg, NP_001099019.1:p.Cys462Arg, NP_001264876.1:p.Cys462Arg, NP_001264878.1:p.Cys462Arg, NP_001099021.1:p.Cys462Arg, NP_001264881.1:p.Cys462Arg, NP_001099020.1:p.Cys462Arg, NP_001264877.1:p.Cys462Arg, NP_001334945.1:p.Cys462Arg, NP_001264875.1:p.Cys462Arg, NP_001099022.1:p.Cys462Arg, NP_001264880.1:p.Cys462Arg

      3.

      rs1488762586 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        19:52614013 (GRCh38)
        19:53117266 (GRCh37)
        Canonical SPDI:
        NC_000019.10:52614012:C:T
        Gene:
        ZNF83 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by cluster
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        T=0.000318/5 (TOMMO)
        T=0.000546/1 (Korea1K)
        HGVS:
        NC_000019.10:g.52614013C>T, NC_000019.9:g.53117266C>T, NG_052996.1:g.81569G>A, NM_018300.4:c.552G>A, NM_018300.3:c.552G>A, NM_001348017.2:c.552G>A, NM_001348017.1:c.552G>A, NM_001348015.2:c.552G>A, NM_001348015.1:c.552G>A, NM_001348019.2:c.552G>A, NM_001348019.1:c.552G>A, NM_001348018.2:c.552G>A, NM_001348018.1:c.552G>A, NM_001277945.2:c.552G>A, NM_001277945.1:c.552G>A, NM_001105549.2:c.552G>A, NM_001105549.1:c.552G>A, NM_001277947.2:c.552G>A, NM_001277947.1:c.552G>A, NM_001277949.2:c.552G>A, NM_001277949.1:c.552G>A, NM_001105551.2:c.552G>A, NM_001105551.1:c.552G>A, NM_001277952.2:c.552G>A, NM_001277952.1:c.552G>A, NM_001105550.2:c.552G>A, NM_001105550.1:c.552G>A, NM_001277948.2:c.552G>A, NM_001277948.1:c.552G>A, NM_001348016.2:c.552G>A, NM_001348016.1:c.552G>A, NM_001277946.2:c.552G>A, NM_001277946.1:c.552G>A, NM_001105552.2:c.552G>A, NM_001105552.1:c.552G>A, NM_001277951.2:c.552G>A, NM_001277951.1:c.552G>A, NR_003936.1:n.1400G>A, NM_001242531.1:c.552G>A, NM_001105553.1:c.552G>A, NM_001242538.1:c.552G>A, NM_001105554.1:c.552G>A

        4.

        rs1486957660 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          19:52613051 (GRCh38)
          19:53116304 (GRCh37)
          Canonical SPDI:
          NC_000019.10:52613050:C:T
          Gene:
          ZNF83 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000019.10:g.52613051C>T, NC_000019.9:g.53116304C>T, NG_052996.1:g.82531G>A, NM_018300.4:c.1514G>A, NM_018300.3:c.1514G>A, NM_001348017.2:c.1514G>A, NM_001348017.1:c.1514G>A, NM_001348015.2:c.1514G>A, NM_001348015.1:c.1514G>A, NM_001348019.2:c.1514G>A, NM_001348019.1:c.1514G>A, NM_001348018.2:c.1514G>A, NM_001348018.1:c.1514G>A, NM_001277945.2:c.1514G>A, NM_001277945.1:c.1514G>A, NM_001105549.2:c.1514G>A, NM_001105549.1:c.1514G>A, NM_001277947.2:c.1514G>A, NM_001277947.1:c.1514G>A, NM_001277949.2:c.1514G>A, NM_001277949.1:c.1514G>A, NM_001105551.2:c.1514G>A, NM_001105551.1:c.1514G>A, NM_001277952.2:c.1514G>A, NM_001277952.1:c.1514G>A, NM_001105550.2:c.1514G>A, NM_001105550.1:c.1514G>A, NM_001277948.2:c.1514G>A, NM_001277948.1:c.1514G>A, NM_001348016.2:c.1514G>A, NM_001348016.1:c.1514G>A, NM_001277946.2:c.1514G>A, NM_001277946.1:c.1514G>A, NM_001105552.2:c.1514G>A, NM_001105552.1:c.1514G>A, NM_001277951.2:c.1514G>A, NM_001277951.1:c.1514G>A, NR_003936.1:n.2278G>A, NM_001242531.1:c.1430G>A, NM_001105553.1:c.1430G>A, NM_001242538.1:c.1430G>A, NM_001105554.1:c.1430G>A, NP_060770.3:p.Arg505Lys, NP_001334946.1:p.Arg505Lys, NP_001334944.1:p.Arg505Lys, NP_001334948.1:p.Arg505Lys, NP_001334947.1:p.Arg505Lys, NP_001264874.1:p.Arg505Lys, NP_001099019.1:p.Arg505Lys, NP_001264876.1:p.Arg505Lys, NP_001264878.1:p.Arg505Lys, NP_001099021.1:p.Arg505Lys, NP_001264881.1:p.Arg505Lys, NP_001099020.1:p.Arg505Lys, NP_001264877.1:p.Arg505Lys, NP_001334945.1:p.Arg505Lys, NP_001264875.1:p.Arg505Lys, NP_001099022.1:p.Arg505Lys, NP_001264880.1:p.Arg505Lys

          5.

          rs1481849906 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            19:52614112 (GRCh38)
            19:53117365 (GRCh37)
            Canonical SPDI:
            NC_000019.10:52614111:A:C
            Gene:
            ZNF83 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            C=0.000023/6 (TOPMED)
            C=0.000684/2 (KOREAN)
            HGVS:
            NC_000019.10:g.52614112A>C, NC_000019.9:g.53117365A>C, NG_052996.1:g.81470T>G, NM_018300.4:c.453T>G, NM_018300.3:c.453T>G, NM_001348017.2:c.453T>G, NM_001348017.1:c.453T>G, NM_001348015.2:c.453T>G, NM_001348015.1:c.453T>G, NM_001348019.2:c.453T>G, NM_001348019.1:c.453T>G, NM_001348018.2:c.453T>G, NM_001348018.1:c.453T>G, NM_001277945.2:c.453T>G, NM_001277945.1:c.453T>G, NM_001105549.2:c.453T>G, NM_001105549.1:c.453T>G, NM_001277947.2:c.453T>G, NM_001277947.1:c.453T>G, NM_001277949.2:c.453T>G, NM_001277949.1:c.453T>G, NM_001105551.2:c.453T>G, NM_001105551.1:c.453T>G, NM_001277952.2:c.453T>G, NM_001277952.1:c.453T>G, NM_001105550.2:c.453T>G, NM_001105550.1:c.453T>G, NM_001277948.2:c.453T>G, NM_001277948.1:c.453T>G, NM_001348016.2:c.453T>G, NM_001348016.1:c.453T>G, NM_001277946.2:c.453T>G, NM_001277946.1:c.453T>G, NM_001105552.2:c.453T>G, NM_001105552.1:c.453T>G, NM_001277951.2:c.453T>G, NM_001277951.1:c.453T>G, NR_003936.1:n.1301T>G, NM_001242531.1:c.453T>G, NM_001105553.1:c.453T>G, NM_001242538.1:c.453T>G, NM_001105554.1:c.453T>G, NP_060770.3:p.Cys151Trp, NP_001334946.1:p.Cys151Trp, NP_001334944.1:p.Cys151Trp, NP_001334948.1:p.Cys151Trp, NP_001334947.1:p.Cys151Trp, NP_001264874.1:p.Cys151Trp, NP_001099019.1:p.Cys151Trp, NP_001264876.1:p.Cys151Trp, NP_001264878.1:p.Cys151Trp, NP_001099021.1:p.Cys151Trp, NP_001264881.1:p.Cys151Trp, NP_001099020.1:p.Cys151Trp, NP_001264877.1:p.Cys151Trp, NP_001334945.1:p.Cys151Trp, NP_001264875.1:p.Cys151Trp, NP_001099022.1:p.Cys151Trp, NP_001264880.1:p.Cys151Trp

            6.

            rs1480404402 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              19:52613174 (GRCh38)
              19:53116427 (GRCh37)
              Canonical SPDI:
              NC_000019.10:52613173:T:C
              Gene:
              ZNF83 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000014/2 (GnomAD)
              HGVS:
              NC_000019.10:g.52613174T>C, NC_000019.9:g.53116427T>C, NG_052996.1:g.82408A>G, NM_018300.4:c.1391A>G, NM_018300.3:c.1391A>G, NM_001348017.2:c.1391A>G, NM_001348017.1:c.1391A>G, NM_001348015.2:c.1391A>G, NM_001348015.1:c.1391A>G, NM_001348019.2:c.1391A>G, NM_001348019.1:c.1391A>G, NM_001348018.2:c.1391A>G, NM_001348018.1:c.1391A>G, NM_001277945.2:c.1391A>G, NM_001277945.1:c.1391A>G, NM_001105549.2:c.1391A>G, NM_001105549.1:c.1391A>G, NM_001277947.2:c.1391A>G, NM_001277947.1:c.1391A>G, NM_001277949.2:c.1391A>G, NM_001277949.1:c.1391A>G, NM_001105551.2:c.1391A>G, NM_001105551.1:c.1391A>G, NM_001277952.2:c.1391A>G, NM_001277952.1:c.1391A>G, NM_001105550.2:c.1391A>G, NM_001105550.1:c.1391A>G, NM_001277948.2:c.1391A>G, NM_001277948.1:c.1391A>G, NM_001348016.2:c.1391A>G, NM_001348016.1:c.1391A>G, NM_001277946.2:c.1391A>G, NM_001277946.1:c.1391A>G, NM_001105552.2:c.1391A>G, NM_001105552.1:c.1391A>G, NM_001277951.2:c.1391A>G, NM_001277951.1:c.1391A>G, NR_003936.1:n.2155A>G, NM_001242531.1:c.1307A>G, NM_001105553.1:c.1307A>G, NM_001242538.1:c.1307A>G, NM_001105554.1:c.1307A>G, NP_060770.3:p.Lys464Arg, NP_001334946.1:p.Lys464Arg, NP_001334944.1:p.Lys464Arg, NP_001334948.1:p.Lys464Arg, NP_001334947.1:p.Lys464Arg, NP_001264874.1:p.Lys464Arg, NP_001099019.1:p.Lys464Arg, NP_001264876.1:p.Lys464Arg, NP_001264878.1:p.Lys464Arg, NP_001099021.1:p.Lys464Arg, NP_001264881.1:p.Lys464Arg, NP_001099020.1:p.Lys464Arg, NP_001264877.1:p.Lys464Arg, NP_001334945.1:p.Lys464Arg, NP_001264875.1:p.Lys464Arg, NP_001099022.1:p.Lys464Arg, NP_001264880.1:p.Lys464Arg

              7.

              rs1480126548 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                19:52614347 (GRCh38)
                19:53117600 (GRCh37)
                Canonical SPDI:
                NC_000019.10:52614346:C:T
                Gene:
                ZNF83 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                T=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000019.10:g.52614347C>T, NC_000019.9:g.53117600C>T, NG_052996.1:g.81235G>A, NM_018300.4:c.218G>A, NM_018300.3:c.218G>A, NM_001348017.2:c.218G>A, NM_001348017.1:c.218G>A, NM_001348015.2:c.218G>A, NM_001348015.1:c.218G>A, NM_001348019.2:c.218G>A, NM_001348019.1:c.218G>A, NM_001348018.2:c.218G>A, NM_001348018.1:c.218G>A, NM_001277945.2:c.218G>A, NM_001277945.1:c.218G>A, NM_001105549.2:c.218G>A, NM_001105549.1:c.218G>A, NM_001277947.2:c.218G>A, NM_001277947.1:c.218G>A, NM_001277949.2:c.218G>A, NM_001277949.1:c.218G>A, NM_001105551.2:c.218G>A, NM_001105551.1:c.218G>A, NM_001277952.2:c.218G>A, NM_001277952.1:c.218G>A, NM_001105550.2:c.218G>A, NM_001105550.1:c.218G>A, NM_001277948.2:c.218G>A, NM_001277948.1:c.218G>A, NM_001348016.2:c.218G>A, NM_001348016.1:c.218G>A, NM_001277946.2:c.218G>A, NM_001277946.1:c.218G>A, NM_001105552.2:c.218G>A, NM_001105552.1:c.218G>A, NM_001277951.2:c.218G>A, NM_001277951.1:c.218G>A, NR_003936.1:n.1066G>A, NM_001242531.1:c.218G>A, NM_001105553.1:c.218G>A, NM_001242538.1:c.218G>A, NM_001105554.1:c.218G>A, NP_060770.3:p.Cys73Tyr, NP_001334946.1:p.Cys73Tyr, NP_001334944.1:p.Cys73Tyr, NP_001334948.1:p.Cys73Tyr, NP_001334947.1:p.Cys73Tyr, NP_001264874.1:p.Cys73Tyr, NP_001099019.1:p.Cys73Tyr, NP_001264876.1:p.Cys73Tyr, NP_001264878.1:p.Cys73Tyr, NP_001099021.1:p.Cys73Tyr, NP_001264881.1:p.Cys73Tyr, NP_001099020.1:p.Cys73Tyr, NP_001264877.1:p.Cys73Tyr, NP_001334945.1:p.Cys73Tyr, NP_001264875.1:p.Cys73Tyr, NP_001099022.1:p.Cys73Tyr, NP_001264880.1:p.Cys73Tyr

                8.

                rs1473904777 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  19:52613569 (GRCh38)
                  19:53116822 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:52613568:T:C
                  Gene:
                  ZNF83 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000019.10:g.52613569T>C, NC_000019.9:g.53116822T>C, NG_052996.1:g.82013A>G, NM_018300.4:c.996A>G, NM_018300.3:c.996A>G, NM_001348017.2:c.996A>G, NM_001348017.1:c.996A>G, NM_001348015.2:c.996A>G, NM_001348015.1:c.996A>G, NM_001348019.2:c.996A>G, NM_001348019.1:c.996A>G, NM_001348018.2:c.996A>G, NM_001348018.1:c.996A>G, NM_001277945.2:c.996A>G, NM_001277945.1:c.996A>G, NM_001105549.2:c.996A>G, NM_001105549.1:c.996A>G, NM_001277947.2:c.996A>G, NM_001277947.1:c.996A>G, NM_001277949.2:c.996A>G, NM_001277949.1:c.996A>G, NM_001105551.2:c.996A>G, NM_001105551.1:c.996A>G, NM_001277952.2:c.996A>G, NM_001277952.1:c.996A>G, NM_001105550.2:c.996A>G, NM_001105550.1:c.996A>G, NM_001277948.2:c.996A>G, NM_001277948.1:c.996A>G, NM_001348016.2:c.996A>G, NM_001348016.1:c.996A>G, NM_001277946.2:c.996A>G, NM_001277946.1:c.996A>G, NM_001105552.2:c.996A>G, NM_001105552.1:c.996A>G, NM_001277951.2:c.996A>G, NM_001277951.1:c.996A>G, NR_003936.1:n.1760A>G, NM_001242531.1:c.912A>G, NM_001105553.1:c.912A>G, NM_001242538.1:c.912A>G, NM_001105554.1:c.912A>G

                  9.

                  rs1473576419 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    19:52614561 (GRCh38)
                    19:53117814 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:52614560:G:T
                    Gene:
                    ZNF83 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000011/3 (TOPMED)
                    T=0.000014/2 (GnomAD)
                    HGVS:
                    NC_000019.10:g.52614561G>T, NC_000019.9:g.53117814G>T, NG_052996.1:g.81021C>A, NM_018300.4:c.4C>A, NM_018300.3:c.4C>A, NM_001348017.2:c.4C>A, NM_001348017.1:c.4C>A, NM_001348015.2:c.4C>A, NM_001348015.1:c.4C>A, NM_001348019.2:c.4C>A, NM_001348019.1:c.4C>A, NM_001348018.2:c.4C>A, NM_001348018.1:c.4C>A, NM_001277945.2:c.4C>A, NM_001277945.1:c.4C>A, NM_001105549.2:c.4C>A, NM_001105549.1:c.4C>A, NM_001277947.2:c.4C>A, NM_001277947.1:c.4C>A, NM_001277949.2:c.4C>A, NM_001277949.1:c.4C>A, NM_001105551.2:c.4C>A, NM_001105551.1:c.4C>A, NM_001277952.2:c.4C>A, NM_001277952.1:c.4C>A, NM_001105550.2:c.4C>A, NM_001105550.1:c.4C>A, NM_001277948.2:c.4C>A, NM_001277948.1:c.4C>A, NM_001348016.2:c.4C>A, NM_001348016.1:c.4C>A, NM_001277946.2:c.4C>A, NM_001277946.1:c.4C>A, NM_001105552.2:c.4C>A, NM_001105552.1:c.4C>A, NM_001277951.2:c.4C>A, NM_001277951.1:c.4C>A, NR_003936.1:n.852C>A, NM_001242531.1:c.4C>A, NM_001105553.1:c.4C>A, NM_001242538.1:c.4C>A, NM_001105554.1:c.4C>A, NP_060770.3:p.His2Asn, NP_001334946.1:p.His2Asn, NP_001334944.1:p.His2Asn, NP_001334948.1:p.His2Asn, NP_001334947.1:p.His2Asn, NP_001264874.1:p.His2Asn, NP_001099019.1:p.His2Asn, NP_001264876.1:p.His2Asn, NP_001264878.1:p.His2Asn, NP_001099021.1:p.His2Asn, NP_001264881.1:p.His2Asn, NP_001099020.1:p.His2Asn, NP_001264877.1:p.His2Asn, NP_001334945.1:p.His2Asn, NP_001264875.1:p.His2Asn, NP_001099022.1:p.His2Asn, NP_001264880.1:p.His2Asn

                    10.

                    rs1472256104 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      19:52613332 (GRCh38)
                      19:53116585 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:52613331:A:G
                      Gene:
                      ZNF83 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000019.10:g.52613332A>G, NC_000019.9:g.53116585A>G, NG_052996.1:g.82250T>C, NM_018300.4:c.1233T>C, NM_018300.3:c.1233T>C, NM_001348017.2:c.1233T>C, NM_001348017.1:c.1233T>C, NM_001348015.2:c.1233T>C, NM_001348015.1:c.1233T>C, NM_001348019.2:c.1233T>C, NM_001348019.1:c.1233T>C, NM_001348018.2:c.1233T>C, NM_001348018.1:c.1233T>C, NM_001277945.2:c.1233T>C, NM_001277945.1:c.1233T>C, NM_001105549.2:c.1233T>C, NM_001105549.1:c.1233T>C, NM_001277947.2:c.1233T>C, NM_001277947.1:c.1233T>C, NM_001277949.2:c.1233T>C, NM_001277949.1:c.1233T>C, NM_001105551.2:c.1233T>C, NM_001105551.1:c.1233T>C, NM_001277952.2:c.1233T>C, NM_001277952.1:c.1233T>C, NM_001105550.2:c.1233T>C, NM_001105550.1:c.1233T>C, NM_001277948.2:c.1233T>C, NM_001277948.1:c.1233T>C, NM_001348016.2:c.1233T>C, NM_001348016.1:c.1233T>C, NM_001277946.2:c.1233T>C, NM_001277946.1:c.1233T>C, NM_001105552.2:c.1233T>C, NM_001105552.1:c.1233T>C, NM_001277951.2:c.1233T>C, NM_001277951.1:c.1233T>C, NR_003936.1:n.1997T>C, NM_001242531.1:c.1149T>C, NM_001105553.1:c.1149T>C, NM_001242538.1:c.1149T>C, NM_001105554.1:c.1149T>C

                      11.

                      rs1471439995 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        19:52614035 (GRCh38)
                        19:53117288 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:52614034:T:C
                        Gene:
                        ZNF83 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (GnomAD_exomes)
                        C=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000019.10:g.52614035T>C, NC_000019.9:g.53117288T>C, NG_052996.1:g.81547A>G, NM_018300.4:c.530A>G, NM_018300.3:c.530A>G, NM_001348017.2:c.530A>G, NM_001348017.1:c.530A>G, NM_001348015.2:c.530A>G, NM_001348015.1:c.530A>G, NM_001348019.2:c.530A>G, NM_001348019.1:c.530A>G, NM_001348018.2:c.530A>G, NM_001348018.1:c.530A>G, NM_001277945.2:c.530A>G, NM_001277945.1:c.530A>G, NM_001105549.2:c.530A>G, NM_001105549.1:c.530A>G, NM_001277947.2:c.530A>G, NM_001277947.1:c.530A>G, NM_001277949.2:c.530A>G, NM_001277949.1:c.530A>G, NM_001105551.2:c.530A>G, NM_001105551.1:c.530A>G, NM_001277952.2:c.530A>G, NM_001277952.1:c.530A>G, NM_001105550.2:c.530A>G, NM_001105550.1:c.530A>G, NM_001277948.2:c.530A>G, NM_001277948.1:c.530A>G, NM_001348016.2:c.530A>G, NM_001348016.1:c.530A>G, NM_001277946.2:c.530A>G, NM_001277946.1:c.530A>G, NM_001105552.2:c.530A>G, NM_001105552.1:c.530A>G, NM_001277951.2:c.530A>G, NM_001277951.1:c.530A>G, NR_003936.1:n.1378A>G, NM_001242531.1:c.530A>G, NM_001105553.1:c.530A>G, NM_001242538.1:c.530A>G, NM_001105554.1:c.530A>G, NP_060770.3:p.Tyr177Cys, NP_001334946.1:p.Tyr177Cys, NP_001334944.1:p.Tyr177Cys, NP_001334948.1:p.Tyr177Cys, NP_001334947.1:p.Tyr177Cys, NP_001264874.1:p.Tyr177Cys, NP_001099019.1:p.Tyr177Cys, NP_001264876.1:p.Tyr177Cys, NP_001264878.1:p.Tyr177Cys, NP_001099021.1:p.Tyr177Cys, NP_001264881.1:p.Tyr177Cys, NP_001099020.1:p.Tyr177Cys, NP_001264877.1:p.Tyr177Cys, NP_001334945.1:p.Tyr177Cys, NP_001264875.1:p.Tyr177Cys, NP_001099022.1:p.Tyr177Cys, NP_001264880.1:p.Tyr177Cys

                        12.

                        rs1470662359 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          19:52613975 (GRCh38)
                          19:53117228 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:52613974:C:G
                          Gene:
                          ZNF83 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          HGVS:
                          NC_000019.10:g.52613975C>G, NC_000019.9:g.53117228C>G, NG_052996.1:g.81607G>C, NM_018300.4:c.590G>C, NM_018300.3:c.590G>C, NM_001348017.2:c.590G>C, NM_001348017.1:c.590G>C, NM_001348015.2:c.590G>C, NM_001348015.1:c.590G>C, NM_001348019.2:c.590G>C, NM_001348019.1:c.590G>C, NM_001348018.2:c.590G>C, NM_001348018.1:c.590G>C, NM_001277945.2:c.590G>C, NM_001277945.1:c.590G>C, NM_001105549.2:c.590G>C, NM_001105549.1:c.590G>C, NM_001277947.2:c.590G>C, NM_001277947.1:c.590G>C, NM_001277949.2:c.590G>C, NM_001277949.1:c.590G>C, NM_001105551.2:c.590G>C, NM_001105551.1:c.590G>C, NM_001277952.2:c.590G>C, NM_001277952.1:c.590G>C, NM_001105550.2:c.590G>C, NM_001105550.1:c.590G>C, NM_001277948.2:c.590G>C, NM_001277948.1:c.590G>C, NM_001348016.2:c.590G>C, NM_001348016.1:c.590G>C, NM_001277946.2:c.590G>C, NM_001277946.1:c.590G>C, NM_001105552.2:c.590G>C, NM_001105552.1:c.590G>C, NM_001277951.2:c.590G>C, NM_001277951.1:c.590G>C, NR_003936.1:n.1438G>C, NM_001242531.1:c.590G>C, NM_001105553.1:c.590G>C, NM_001242538.1:c.590G>C, NM_001105554.1:c.590G>C, NP_060770.3:p.Arg197Thr, NP_001334946.1:p.Arg197Thr, NP_001334944.1:p.Arg197Thr, NP_001334948.1:p.Arg197Thr, NP_001334947.1:p.Arg197Thr, NP_001264874.1:p.Arg197Thr, NP_001099019.1:p.Arg197Thr, NP_001264876.1:p.Arg197Thr, NP_001264878.1:p.Arg197Thr, NP_001099021.1:p.Arg197Thr, NP_001264881.1:p.Arg197Thr, NP_001099020.1:p.Arg197Thr, NP_001264877.1:p.Arg197Thr, NP_001334945.1:p.Arg197Thr, NP_001264875.1:p.Arg197Thr, NP_001099022.1:p.Arg197Thr, NP_001264880.1:p.Arg197Thr

                          13.

                          rs1464039601 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            19:52614304 (GRCh38)
                            19:53117557 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:52614303:A:G
                            Gene:
                            ZNF83 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000019.10:g.52614304A>G, NC_000019.9:g.53117557A>G, NG_052996.1:g.81278T>C, NM_018300.4:c.261T>C, NM_018300.3:c.261T>C, NM_001348017.2:c.261T>C, NM_001348017.1:c.261T>C, NM_001348015.2:c.261T>C, NM_001348015.1:c.261T>C, NM_001348019.2:c.261T>C, NM_001348019.1:c.261T>C, NM_001348018.2:c.261T>C, NM_001348018.1:c.261T>C, NM_001277945.2:c.261T>C, NM_001277945.1:c.261T>C, NM_001105549.2:c.261T>C, NM_001105549.1:c.261T>C, NM_001277947.2:c.261T>C, NM_001277947.1:c.261T>C, NM_001277949.2:c.261T>C, NM_001277949.1:c.261T>C, NM_001105551.2:c.261T>C, NM_001105551.1:c.261T>C, NM_001277952.2:c.261T>C, NM_001277952.1:c.261T>C, NM_001105550.2:c.261T>C, NM_001105550.1:c.261T>C, NM_001277948.2:c.261T>C, NM_001277948.1:c.261T>C, NM_001348016.2:c.261T>C, NM_001348016.1:c.261T>C, NM_001277946.2:c.261T>C, NM_001277946.1:c.261T>C, NM_001105552.2:c.261T>C, NM_001105552.1:c.261T>C, NM_001277951.2:c.261T>C, NM_001277951.1:c.261T>C, NR_003936.1:n.1109T>C, NM_001242531.1:c.261T>C, NM_001105553.1:c.261T>C, NM_001242538.1:c.261T>C, NM_001105554.1:c.261T>C

                            14.

                            rs1463948344 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              19:52613277 (GRCh38)
                              19:53116530 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:52613276:T:A
                              Gene:
                              ZNF83 (Varview)
                              Functional Consequence:
                              stop_gained,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (GnomAD_exomes)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000019.10:g.52613277T>A, NC_000019.9:g.53116530T>A, NG_052996.1:g.82305A>T, NM_018300.4:c.1288A>T, NM_018300.3:c.1288A>T, NM_001348017.2:c.1288A>T, NM_001348017.1:c.1288A>T, NM_001348015.2:c.1288A>T, NM_001348015.1:c.1288A>T, NM_001348019.2:c.1288A>T, NM_001348019.1:c.1288A>T, NM_001348018.2:c.1288A>T, NM_001348018.1:c.1288A>T, NM_001277945.2:c.1288A>T, NM_001277945.1:c.1288A>T, NM_001105549.2:c.1288A>T, NM_001105549.1:c.1288A>T, NM_001277947.2:c.1288A>T, NM_001277947.1:c.1288A>T, NM_001277949.2:c.1288A>T, NM_001277949.1:c.1288A>T, NM_001105551.2:c.1288A>T, NM_001105551.1:c.1288A>T, NM_001277952.2:c.1288A>T, NM_001277952.1:c.1288A>T, NM_001105550.2:c.1288A>T, NM_001105550.1:c.1288A>T, NM_001277948.2:c.1288A>T, NM_001277948.1:c.1288A>T, NM_001348016.2:c.1288A>T, NM_001348016.1:c.1288A>T, NM_001277946.2:c.1288A>T, NM_001277946.1:c.1288A>T, NM_001105552.2:c.1288A>T, NM_001105552.1:c.1288A>T, NM_001277951.2:c.1288A>T, NM_001277951.1:c.1288A>T, NR_003936.1:n.2052A>T, NM_001242531.1:c.1204A>T, NM_001105553.1:c.1204A>T, NM_001242538.1:c.1204A>T, NM_001105554.1:c.1204A>T, NP_060770.3:p.Lys430Ter, NP_001334946.1:p.Lys430Ter, NP_001334944.1:p.Lys430Ter, NP_001334948.1:p.Lys430Ter, NP_001334947.1:p.Lys430Ter, NP_001264874.1:p.Lys430Ter, NP_001099019.1:p.Lys430Ter, NP_001264876.1:p.Lys430Ter, NP_001264878.1:p.Lys430Ter, NP_001099021.1:p.Lys430Ter, NP_001264881.1:p.Lys430Ter, NP_001099020.1:p.Lys430Ter, NP_001264877.1:p.Lys430Ter, NP_001334945.1:p.Lys430Ter, NP_001264875.1:p.Lys430Ter, NP_001099022.1:p.Lys430Ter, NP_001264880.1:p.Lys430Ter

                              15.

                              rs1459591180 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                19:52613528 (GRCh38)
                                19:53116781 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:52613527:T:C
                                Gene:
                                ZNF83 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                HGVS:
                                NC_000019.10:g.52613528T>C, NC_000019.9:g.53116781T>C, NG_052996.1:g.82054A>G, NM_018300.4:c.1037A>G, NM_018300.3:c.1037A>G, NM_001348017.2:c.1037A>G, NM_001348017.1:c.1037A>G, NM_001348015.2:c.1037A>G, NM_001348015.1:c.1037A>G, NM_001348019.2:c.1037A>G, NM_001348019.1:c.1037A>G, NM_001348018.2:c.1037A>G, NM_001348018.1:c.1037A>G, NM_001277945.2:c.1037A>G, NM_001277945.1:c.1037A>G, NM_001105549.2:c.1037A>G, NM_001105549.1:c.1037A>G, NM_001277947.2:c.1037A>G, NM_001277947.1:c.1037A>G, NM_001277949.2:c.1037A>G, NM_001277949.1:c.1037A>G, NM_001105551.2:c.1037A>G, NM_001105551.1:c.1037A>G, NM_001277952.2:c.1037A>G, NM_001277952.1:c.1037A>G, NM_001105550.2:c.1037A>G, NM_001105550.1:c.1037A>G, NM_001277948.2:c.1037A>G, NM_001277948.1:c.1037A>G, NM_001348016.2:c.1037A>G, NM_001348016.1:c.1037A>G, NM_001277946.2:c.1037A>G, NM_001277946.1:c.1037A>G, NM_001105552.2:c.1037A>G, NM_001105552.1:c.1037A>G, NM_001277951.2:c.1037A>G, NM_001277951.1:c.1037A>G, NR_003936.1:n.1801A>G, NM_001242531.1:c.953A>G, NM_001105553.1:c.953A>G, NM_001242538.1:c.953A>G, NM_001105554.1:c.953A>G, NP_060770.3:p.Lys346Arg, NP_001334946.1:p.Lys346Arg, NP_001334944.1:p.Lys346Arg, NP_001334948.1:p.Lys346Arg, NP_001334947.1:p.Lys346Arg, NP_001264874.1:p.Lys346Arg, NP_001099019.1:p.Lys346Arg, NP_001264876.1:p.Lys346Arg, NP_001264878.1:p.Lys346Arg, NP_001099021.1:p.Lys346Arg, NP_001264881.1:p.Lys346Arg, NP_001099020.1:p.Lys346Arg, NP_001264877.1:p.Lys346Arg, NP_001334945.1:p.Lys346Arg, NP_001264875.1:p.Lys346Arg, NP_001099022.1:p.Lys346Arg, NP_001264880.1:p.Lys346Arg

                                16.

                                rs1459009748 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->TTTGTGTGAAT [Show Flanks]
                                  Chromosome:
                                  19:52614316 (GRCh38)
                                  19:53117570 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:52614316:TTTTGTGTGAAT:TTTTGTGTGAATTTTGTGTGAAT
                                  Gene:
                                  ZNF83 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,frameshift_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TTTTGTGTGAATTTTGTGTGAAT=0./0 (ALFA)
                                  TTTTGTGTGAA=0.000011/3 (TOPMED)
                                  HGVS:
                                  NC_000019.10:g.52614318_52614328dup, NC_000019.9:g.53117571_53117581dup, NG_052996.1:g.81255_81265dup, NM_018300.4:c.238_248dup, NM_018300.3:c.238_248dup, NM_001348017.2:c.238_248dup, NM_001348017.1:c.238_248dup, NM_001348015.2:c.238_248dup, NM_001348015.1:c.238_248dup, NM_001348019.2:c.238_248dup, NM_001348019.1:c.238_248dup, NM_001348018.2:c.238_248dup, NM_001348018.1:c.238_248dup, NM_001277945.2:c.238_248dup, NM_001277945.1:c.238_248dup, NM_001105549.2:c.238_248dup, NM_001105549.1:c.238_248dup, NM_001277947.2:c.238_248dup, NM_001277947.1:c.238_248dup, NM_001277949.2:c.238_248dup, NM_001277949.1:c.238_248dup, NM_001105551.2:c.238_248dup, NM_001105551.1:c.238_248dup, NM_001277952.2:c.238_248dup, NM_001277952.1:c.238_248dup, NM_001105550.2:c.238_248dup, NM_001105550.1:c.238_248dup, NM_001277948.2:c.238_248dup, NM_001277948.1:c.238_248dup, NM_001348016.2:c.238_248dup, NM_001348016.1:c.238_248dup, NM_001277946.2:c.238_248dup, NM_001277946.1:c.238_248dup, NM_001105552.2:c.238_248dup, NM_001105552.1:c.238_248dup, NM_001277951.2:c.238_248dup, NM_001277951.1:c.238_248dup, NR_003936.1:n.1086_1096dup, NM_001242531.1:c.238_248dup, NM_001105553.1:c.238_248dup, NM_001242538.1:c.238_248dup, NM_001105554.1:c.238_248dup, NP_060770.3:p.Lys83fs, NP_001334946.1:p.Lys83fs, NP_001334944.1:p.Lys83fs, NP_001334948.1:p.Lys83fs, NP_001334947.1:p.Lys83fs, NP_001264874.1:p.Lys83fs, NP_001099019.1:p.Lys83fs, NP_001264876.1:p.Lys83fs, NP_001264878.1:p.Lys83fs, NP_001099021.1:p.Lys83fs, NP_001264881.1:p.Lys83fs, NP_001099020.1:p.Lys83fs, NP_001264877.1:p.Lys83fs, NP_001334945.1:p.Lys83fs, NP_001264875.1:p.Lys83fs, NP_001099022.1:p.Lys83fs, NP_001264880.1:p.Lys83fs

                                  17.

                                  rs1456869951 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    19:52614146 (GRCh38)
                                    19:53117399 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:52614145:T:C
                                    Gene:
                                    ZNF83 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000019.10:g.52614146T>C, NC_000019.9:g.53117399T>C, NG_052996.1:g.81436A>G, NM_018300.4:c.419A>G, NM_018300.3:c.419A>G, NM_001348017.2:c.419A>G, NM_001348017.1:c.419A>G, NM_001348015.2:c.419A>G, NM_001348015.1:c.419A>G, NM_001348019.2:c.419A>G, NM_001348019.1:c.419A>G, NM_001348018.2:c.419A>G, NM_001348018.1:c.419A>G, NM_001277945.2:c.419A>G, NM_001277945.1:c.419A>G, NM_001105549.2:c.419A>G, NM_001105549.1:c.419A>G, NM_001277947.2:c.419A>G, NM_001277947.1:c.419A>G, NM_001277949.2:c.419A>G, NM_001277949.1:c.419A>G, NM_001105551.2:c.419A>G, NM_001105551.1:c.419A>G, NM_001277952.2:c.419A>G, NM_001277952.1:c.419A>G, NM_001105550.2:c.419A>G, NM_001105550.1:c.419A>G, NM_001277948.2:c.419A>G, NM_001277948.1:c.419A>G, NM_001348016.2:c.419A>G, NM_001348016.1:c.419A>G, NM_001277946.2:c.419A>G, NM_001277946.1:c.419A>G, NM_001105552.2:c.419A>G, NM_001105552.1:c.419A>G, NM_001277951.2:c.419A>G, NM_001277951.1:c.419A>G, NR_003936.1:n.1267A>G, NM_001242531.1:c.419A>G, NM_001105553.1:c.419A>G, NM_001242538.1:c.419A>G, NM_001105554.1:c.419A>G, NP_060770.3:p.Gln140Arg, NP_001334946.1:p.Gln140Arg, NP_001334944.1:p.Gln140Arg, NP_001334948.1:p.Gln140Arg, NP_001334947.1:p.Gln140Arg, NP_001264874.1:p.Gln140Arg, NP_001099019.1:p.Gln140Arg, NP_001264876.1:p.Gln140Arg, NP_001264878.1:p.Gln140Arg, NP_001099021.1:p.Gln140Arg, NP_001264881.1:p.Gln140Arg, NP_001099020.1:p.Gln140Arg, NP_001264877.1:p.Gln140Arg, NP_001334945.1:p.Gln140Arg, NP_001264875.1:p.Gln140Arg, NP_001099022.1:p.Gln140Arg, NP_001264880.1:p.Gln140Arg

                                    18.

                                    rs1455289262 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      19:52613215 (GRCh38)
                                      19:53116468 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:52613214:A:G
                                      Gene:
                                      ZNF83 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000019.10:g.52613215A>G, NC_000019.9:g.53116468A>G, NG_052996.1:g.82367T>C, NM_018300.4:c.1350T>C, NM_018300.3:c.1350T>C, NM_001348017.2:c.1350T>C, NM_001348017.1:c.1350T>C, NM_001348015.2:c.1350T>C, NM_001348015.1:c.1350T>C, NM_001348019.2:c.1350T>C, NM_001348019.1:c.1350T>C, NM_001348018.2:c.1350T>C, NM_001348018.1:c.1350T>C, NM_001277945.2:c.1350T>C, NM_001277945.1:c.1350T>C, NM_001105549.2:c.1350T>C, NM_001105549.1:c.1350T>C, NM_001277947.2:c.1350T>C, NM_001277947.1:c.1350T>C, NM_001277949.2:c.1350T>C, NM_001277949.1:c.1350T>C, NM_001105551.2:c.1350T>C, NM_001105551.1:c.1350T>C, NM_001277952.2:c.1350T>C, NM_001277952.1:c.1350T>C, NM_001105550.2:c.1350T>C, NM_001105550.1:c.1350T>C, NM_001277948.2:c.1350T>C, NM_001277948.1:c.1350T>C, NM_001348016.2:c.1350T>C, NM_001348016.1:c.1350T>C, NM_001277946.2:c.1350T>C, NM_001277946.1:c.1350T>C, NM_001105552.2:c.1350T>C, NM_001105552.1:c.1350T>C, NM_001277951.2:c.1350T>C, NM_001277951.1:c.1350T>C, NR_003936.1:n.2114T>C, NM_001242531.1:c.1266T>C, NM_001105553.1:c.1266T>C, NM_001242538.1:c.1266T>C, NM_001105554.1:c.1266T>C

                                      19.

                                      rs1451589440 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        19:52613692 (GRCh38)
                                        19:53116945 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:52613691:A:G
                                        Gene:
                                        ZNF83 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0.00177/21 (ALFA)
                                        HGVS:
                                        NC_000019.10:g.52613692A>G, NC_000019.9:g.53116945A>G, NG_052996.1:g.81890T>C, NM_018300.4:c.873T>C, NM_018300.3:c.873T>C, NM_001348017.2:c.873T>C, NM_001348017.1:c.873T>C, NM_001348015.2:c.873T>C, NM_001348015.1:c.873T>C, NM_001348019.2:c.873T>C, NM_001348019.1:c.873T>C, NM_001348018.2:c.873T>C, NM_001348018.1:c.873T>C, NM_001277945.2:c.873T>C, NM_001277945.1:c.873T>C, NM_001105549.2:c.873T>C, NM_001105549.1:c.873T>C, NM_001277947.2:c.873T>C, NM_001277947.1:c.873T>C, NM_001277949.2:c.873T>C, NM_001277949.1:c.873T>C, NM_001105551.2:c.873T>C, NM_001105551.1:c.873T>C, NM_001277952.2:c.873T>C, NM_001277952.1:c.873T>C, NM_001105550.2:c.873T>C, NM_001105550.1:c.873T>C, NM_001277948.2:c.873T>C, NM_001277948.1:c.873T>C, NM_001348016.2:c.873T>C, NM_001348016.1:c.873T>C, NM_001277946.2:c.873T>C, NM_001277946.1:c.873T>C, NM_001105552.2:c.873T>C, NM_001105552.1:c.873T>C, NM_001277951.2:c.873T>C, NM_001277951.1:c.873T>C

                                        20.

                                        rs1450972745 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ATG>- [Show Flanks]
                                          Chromosome:
                                          19:52613980 (GRCh38)
                                          19:53117233 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:52613977:TGATG:TG
                                          Gene:
                                          ZNF83 (Varview)
                                          Functional Consequence:
                                          inframe_deletion,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          TG=0./0 (ALFA)
                                          -=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000019.10:g.52613980_52613982del, NC_000019.9:g.53117233_53117235del, NG_052996.1:g.81602_81604del, NM_018300.4:c.585_587del, NM_018300.3:c.585_587del, NM_001348017.2:c.585_587del, NM_001348017.1:c.585_587del, NM_001348015.2:c.585_587del, NM_001348015.1:c.585_587del, NM_001348019.2:c.585_587del, NM_001348019.1:c.585_587del, NM_001348018.2:c.585_587del, NM_001348018.1:c.585_587del, NM_001277945.2:c.585_587del, NM_001277945.1:c.585_587del, NM_001105549.2:c.585_587del, NM_001105549.1:c.585_587del, NM_001277947.2:c.585_587del, NM_001277947.1:c.585_587del, NM_001277949.2:c.585_587del, NM_001277949.1:c.585_587del, NM_001105551.2:c.585_587del, NM_001105551.1:c.585_587del, NM_001277952.2:c.585_587del, NM_001277952.1:c.585_587del, NM_001105550.2:c.585_587del, NM_001105550.1:c.585_587del, NM_001277948.2:c.585_587del, NM_001277948.1:c.585_587del, NM_001348016.2:c.585_587del, NM_001348016.1:c.585_587del, NM_001277946.2:c.585_587del, NM_001277946.1:c.585_587del, NM_001105552.2:c.585_587del, NM_001105552.1:c.585_587del, NM_001277951.2:c.585_587del, NM_001277951.1:c.585_587del, NR_003936.1:n.1433_1435del, NM_001242531.1:c.585_587del, NM_001105553.1:c.585_587del, NM_001242538.1:c.585_587del, NM_001105554.1:c.585_587del, NP_060770.3:p.His195del, NP_001334946.1:p.His195del, NP_001334944.1:p.His195del, NP_001334948.1:p.His195del, NP_001334947.1:p.His195del, NP_001264874.1:p.His195del, NP_001099019.1:p.His195del, NP_001264876.1:p.His195del, NP_001264878.1:p.His195del, NP_001099021.1:p.His195del, NP_001264881.1:p.His195del, NP_001099020.1:p.His195del, NP_001264877.1:p.His195del, NP_001334945.1:p.His195del, NP_001264875.1:p.His195del, NP_001099022.1:p.His195del, NP_001264880.1:p.His195del

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