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Items: 1 to 20 of 120

1.

rs1487700131 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    15:75338068 (GRCh38)
    15:75630409 (GRCh37)
    Canonical SPDI:
    NC_000015.10:75338067:C:T
    Gene:
    COMMD4 (Varview)
    Functional Consequence:
    5_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000078/11 (GnomAD)
    T=0.000468/3 (1000Genomes)
    T=0.000685/2 (KOREAN)
    T=0.017446/292 (TOMMO)
    HGVS:
    NC_000015.10:g.75338068C>T, NC_000015.9:g.75630409C>T, NM_017828.5:c.10C>T, NM_017828.4:c.10C>T, NM_017828.3:c.10C>T, XM_005254509.4:c.91C>T, XM_005254509.3:c.91C>T, XM_005254509.2:c.91C>T, XM_005254509.1:c.91C>T, XM_005254510.4:c.91C>T, XM_005254510.3:c.91C>T, XM_005254510.2:c.91C>T, XM_005254510.1:c.91C>T, XM_011521739.3:c.100C>T, XM_011521739.2:c.100C>T, XM_011521739.1:c.100C>T, XM_011521741.3:c.100C>T, XM_011521741.2:c.100C>T, XM_011521741.1:c.100C>T, NR_104312.2:n.37C>T, NR_104312.1:n.104C>T, NM_001321844.2:c.-63C>T, NM_001321844.1:c.-63C>T, XM_011521740.2:c.100C>T, XM_011521740.1:c.100C>T, NR_104313.2:n.37C>T, NR_104313.1:n.104C>T, NM_001321847.2:c.10C>T, NM_001321847.1:c.10C>T, XM_017022385.2:c.100C>T, XM_017022385.1:c.100C>T, NM_001284377.2:c.10C>T, NM_001284377.1:c.10C>T, NM_001321846.2:c.10C>T, NM_001321846.1:c.10C>T, NM_001284378.2:c.10C>T, NM_001284378.1:c.10C>T, NP_060298.2:p.Arg4Trp, XP_005254566.1:p.Arg31Trp, XP_005254567.1:p.Arg31Trp, XP_011520041.1:p.Arg34Trp, XP_011520043.1:p.Arg34Trp, XP_011520042.1:p.Arg34Trp, NP_001308776.1:p.Arg4Trp, XP_016877874.1:p.Arg34Trp, NP_001271306.1:p.Arg4Trp, NP_001308775.1:p.Arg4Trp, NP_001271307.1:p.Arg4Trp

    2.

    rs1483646169 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      15:75338985 (GRCh38)
      15:75631326 (GRCh37)
      Canonical SPDI:
      NC_000015.10:75338984:A:C
      Gene:
      COMMD4 (Varview)
      Functional Consequence:
      missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
      HGVS:
      NC_000015.10:g.75338985A>C, NC_000015.9:g.75631326A>C, NM_017828.5:c.182A>C, NM_017828.4:c.182A>C, NM_017828.3:c.182A>C, XM_005254509.4:c.263A>C, XM_005254509.3:c.263A>C, XM_005254509.2:c.263A>C, XM_005254509.1:c.263A>C, XM_005254510.4:c.197A>C, XM_005254510.3:c.197A>C, XM_005254510.2:c.197A>C, XM_005254510.1:c.197A>C, XM_011521739.3:c.272A>C, XM_011521739.2:c.272A>C, XM_011521739.1:c.272A>C, XM_011521741.3:c.272A>C, XM_011521741.2:c.272A>C, XM_011521741.1:c.272A>C, NR_104312.2:n.209A>C, NR_104312.1:n.276A>C, NM_001321844.2:c.110A>C, NM_001321844.1:c.110A>C, XM_011521740.2:c.206A>C, XM_011521740.1:c.206A>C, NM_001321848.2:c.200A>C, NM_001321848.1:c.200A>C, NM_001321847.2:c.116A>C, NM_001321847.1:c.116A>C, XM_017022385.2:c.206A>C, XM_017022385.1:c.206A>C, NM_001284379.2:c.200A>C, NM_001284379.1:c.200A>C, NM_001321845.2:c.44A>C, NM_001321845.1:c.44A>C, NM_001284377.2:c.182A>C, NM_001284377.1:c.182A>C, NM_001321846.2:c.116A>C, NM_001321846.1:c.116A>C, NM_001284378.2:c.182A>C, NM_001284378.1:c.182A>C, NP_060298.2:p.Glu61Ala, XP_005254566.1:p.Glu88Ala, XP_005254567.1:p.Glu66Ala, XP_011520041.1:p.Glu91Ala, XP_011520043.1:p.Glu91Ala, NP_001308773.1:p.Glu37Ala, XP_011520042.1:p.Glu69Ala, NP_001308777.1:p.Glu67Ala, NP_001308776.1:p.Glu39Ala, XP_016877874.1:p.Glu69Ala, NP_001271308.1:p.Glu67Ala, NP_001308774.1:p.Glu15Ala, NP_001271306.1:p.Glu61Ala, NP_001308775.1:p.Glu39Ala, NP_001271307.1:p.Glu61Ala

      3.

      rs1482549006 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        15:75338678 (GRCh38)
        15:75631019 (GRCh37)
        Canonical SPDI:
        NC_000015.10:75338677:C:T
        Gene:
        COMMD4 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        NC_000015.10:g.75338678C>T, NC_000015.9:g.75631019C>T, NM_017828.5:c.174C>T, NM_017828.4:c.174C>T, NM_017828.3:c.174C>T, XM_005254509.4:c.255C>T, XM_005254509.3:c.255C>T, XM_005254509.2:c.255C>T, XM_005254509.1:c.255C>T, XM_005254510.4:c.189C>T, XM_005254510.3:c.189C>T, XM_005254510.2:c.189C>T, XM_005254510.1:c.189C>T, XM_011521739.3:c.264C>T, XM_011521739.2:c.264C>T, XM_011521739.1:c.264C>T, XM_011521741.3:c.264C>T, XM_011521741.2:c.264C>T, XM_011521741.1:c.264C>T, NR_104312.2:n.201C>T, NR_104312.1:n.268C>T, NM_001321844.2:c.102C>T, NM_001321844.1:c.102C>T, XM_011521740.2:c.198C>T, XM_011521740.1:c.198C>T, NM_001321848.2:c.192C>T, NM_001321848.1:c.192C>T, NR_104313.2:n.201C>T, NR_104313.1:n.268C>T, NM_001321847.2:c.108C>T, NM_001321847.1:c.108C>T, XM_017022385.2:c.198C>T, XM_017022385.1:c.198C>T, NM_001284379.2:c.192C>T, NM_001284379.1:c.192C>T, NM_001321845.2:c.36C>T, NM_001321845.1:c.36C>T, NM_001284377.2:c.174C>T, NM_001284377.1:c.174C>T, NM_001321846.2:c.108C>T, NM_001321846.1:c.108C>T, NM_001284378.2:c.174C>T, NM_001284378.1:c.174C>T

        4.

        rs1476033893 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          15:75339987 (GRCh38)
          15:75632328 (GRCh37)
          Canonical SPDI:
          NC_000015.10:75339986:G:C
          Gene:
          COMMD4 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
          Validated:
          by frequency
          MAF:
          C=0.000024/6 (GnomAD_exomes)
          HGVS:
          NC_000015.10:g.75339987G>C, NC_000015.9:g.75632328G>C, NM_017828.5:c.582G>C, NM_017828.4:c.582G>C, NM_017828.3:c.582G>C, XM_005254509.4:c.663G>C, XM_005254509.3:c.663G>C, XM_005254509.2:c.663G>C, XM_005254509.1:c.663G>C, XM_005254510.4:c.597G>C, XM_005254510.3:c.597G>C, XM_005254510.2:c.597G>C, XM_005254510.1:c.597G>C, XM_011521739.3:c.672G>C, XM_011521739.2:c.672G>C, XM_011521739.1:c.672G>C, XM_011521741.3:c.495G>C, XM_011521741.2:c.495G>C, XM_011521741.1:c.495G>C, NR_104312.2:n.609G>C, NR_104312.1:n.676G>C, NM_001321844.2:c.510G>C, NM_001321844.1:c.510G>C, XM_011521740.2:c.606G>C, XM_011521740.1:c.606G>C, NM_001321848.2:c.600G>C, NM_001321848.1:c.600G>C, NR_104313.2:n.557G>C, NR_104313.1:n.624G>C, NM_001321847.2:c.516G>C, NM_001321847.1:c.516G>C, XM_017022385.2:c.429G>C, XM_017022385.1:c.429G>C, NM_001284379.2:c.423G>C, NM_001284379.1:c.423G>C, NM_001321845.2:c.444G>C, NM_001321845.1:c.444G>C, NM_001284377.2:c.405G>C, NM_001284377.1:c.405G>C, NM_001321846.2:c.339G>C, NM_001321846.1:c.339G>C, NM_001284378.2:c.324G>C, NM_001284378.1:c.324G>C

          5.

          rs1471390894 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            15:75339982 (GRCh38)
            15:75632323 (GRCh37)
            Canonical SPDI:
            NC_000015.10:75339981:A:G
            Gene:
            COMMD4 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000015.10:g.75339982A>G, NC_000015.9:g.75632323A>G, NM_017828.5:c.577A>G, NM_017828.4:c.577A>G, NM_017828.3:c.577A>G, XM_005254509.4:c.658A>G, XM_005254509.3:c.658A>G, XM_005254509.2:c.658A>G, XM_005254509.1:c.658A>G, XM_005254510.4:c.592A>G, XM_005254510.3:c.592A>G, XM_005254510.2:c.592A>G, XM_005254510.1:c.592A>G, XM_011521739.3:c.667A>G, XM_011521739.2:c.667A>G, XM_011521739.1:c.667A>G, XM_011521741.3:c.490A>G, XM_011521741.2:c.490A>G, XM_011521741.1:c.490A>G, NR_104312.2:n.604A>G, NR_104312.1:n.671A>G, NM_001321844.2:c.505A>G, NM_001321844.1:c.505A>G, XM_011521740.2:c.601A>G, XM_011521740.1:c.601A>G, NM_001321848.2:c.595A>G, NM_001321848.1:c.595A>G, NR_104313.2:n.552A>G, NR_104313.1:n.619A>G, NM_001321847.2:c.511A>G, NM_001321847.1:c.511A>G, XM_017022385.2:c.424A>G, XM_017022385.1:c.424A>G, NM_001284379.2:c.418A>G, NM_001284379.1:c.418A>G, NM_001321845.2:c.439A>G, NM_001321845.1:c.439A>G, NM_001284377.2:c.400A>G, NM_001284377.1:c.400A>G, NM_001321846.2:c.334A>G, NM_001321846.1:c.334A>G, NM_001284378.2:c.319A>G, NM_001284378.1:c.319A>G, NP_060298.2:p.Thr193Ala, XP_005254566.1:p.Thr220Ala, XP_005254567.1:p.Thr198Ala, XP_011520041.1:p.Thr223Ala, XP_011520043.1:p.Thr164Ala, NP_001308773.1:p.Thr169Ala, XP_011520042.1:p.Thr201Ala, NP_001308777.1:p.Thr199Ala, NP_001308776.1:p.Thr171Ala, XP_016877874.1:p.Thr142Ala, NP_001271308.1:p.Thr140Ala, NP_001308774.1:p.Thr147Ala, NP_001271306.1:p.Thr134Ala, NP_001308775.1:p.Thr112Ala, NP_001271307.1:p.Thr107Ala

            6.

            rs1468116952 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              15:75339036 (GRCh38)
              15:75631377 (GRCh37)
              Canonical SPDI:
              NC_000015.10:75339035:G:A,NC_000015.10:75339035:G:C
              Gene:
              COMMD4 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,coding_sequence_variant,splice_acceptor_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              A=0.000029/4 (GnomAD)
              A=0.000342/1 (KOREAN)
              A=0.000468/3 (1000Genomes)
              A=0.015535/260 (TOMMO)
              HGVS:
              NC_000015.10:g.75339036G>A, NC_000015.10:g.75339036G>C, NC_000015.9:g.75631377G>A, NC_000015.9:g.75631377G>C, NM_017828.5:c.233G>A, NM_017828.5:c.233G>C, NM_017828.4:c.233G>A, NM_017828.4:c.233G>C, NM_017828.3:c.233G>A, NM_017828.3:c.233G>C, XM_005254509.4:c.314G>A, XM_005254509.4:c.314G>C, XM_005254509.3:c.314G>A, XM_005254509.3:c.314G>C, XM_005254509.2:c.314G>A, XM_005254509.2:c.314G>C, XM_005254509.1:c.314G>A, XM_005254509.1:c.314G>C, XM_005254510.4:c.248G>A, XM_005254510.4:c.248G>C, XM_005254510.3:c.248G>A, XM_005254510.3:c.248G>C, XM_005254510.2:c.248G>A, XM_005254510.2:c.248G>C, XM_005254510.1:c.248G>A, XM_005254510.1:c.248G>C, XM_011521739.3:c.323G>A, XM_011521739.3:c.323G>C, XM_011521739.2:c.323G>A, XM_011521739.2:c.323G>C, XM_011521739.1:c.323G>A, XM_011521739.1:c.323G>C, XM_011521741.3:c.323G>A, XM_011521741.3:c.323G>C, XM_011521741.2:c.323G>A, XM_011521741.2:c.323G>C, XM_011521741.1:c.323G>A, XM_011521741.1:c.323G>C, NR_104312.2:n.260G>A, NR_104312.2:n.260G>C, NR_104312.1:n.327G>A, NR_104312.1:n.327G>C, NM_001321844.2:c.161G>A, NM_001321844.2:c.161G>C, NM_001321844.1:c.161G>A, NM_001321844.1:c.161G>C, XM_011521740.2:c.257G>A, XM_011521740.2:c.257G>C, XM_011521740.1:c.257G>A, XM_011521740.1:c.257G>C, NM_001321848.2:c.251G>A, NM_001321848.2:c.251G>C, NM_001321848.1:c.251G>A, NM_001321848.1:c.251G>C, NM_001321847.2:c.167G>A, NM_001321847.2:c.167G>C, NM_001321847.1:c.167G>A, NM_001321847.1:c.167G>C, XM_017022385.2:c.257G>A, XM_017022385.2:c.257G>C, XM_017022385.1:c.257G>A, XM_017022385.1:c.257G>C, NM_001284379.2:c.251G>A, NM_001284379.2:c.251G>C, NM_001284379.1:c.251G>A, NM_001284379.1:c.251G>C, NM_001321845.2:c.95G>A, NM_001321845.2:c.95G>C, NM_001321845.1:c.95G>A, NM_001321845.1:c.95G>C, NM_001284377.2:c.233G>A, NM_001284377.2:c.233G>C, NM_001284377.1:c.233G>A, NM_001284377.1:c.233G>C, NM_001321846.2:c.167G>A, NM_001321846.2:c.167G>C, NM_001321846.1:c.167G>A, NM_001321846.1:c.167G>C, NM_001284378.2:c.233G>A, NM_001284378.2:c.233G>C, NM_001284378.1:c.233G>A, NM_001284378.1:c.233G>C, NP_060298.2:p.Ser78Asn, NP_060298.2:p.Ser78Thr, XP_005254566.1:p.Ser105Asn, XP_005254566.1:p.Ser105Thr, XP_005254567.1:p.Ser83Asn, XP_005254567.1:p.Ser83Thr, XP_011520041.1:p.Ser108Asn, XP_011520041.1:p.Ser108Thr, XP_011520043.1:p.Ser108Asn, XP_011520043.1:p.Ser108Thr, NP_001308773.1:p.Ser54Asn, NP_001308773.1:p.Ser54Thr, XP_011520042.1:p.Ser86Asn, XP_011520042.1:p.Ser86Thr, NP_001308777.1:p.Ser84Asn, NP_001308777.1:p.Ser84Thr, NP_001308776.1:p.Ser56Asn, NP_001308776.1:p.Ser56Thr, XP_016877874.1:p.Ser86Asn, XP_016877874.1:p.Ser86Thr, NP_001271308.1:p.Ser84Asn, NP_001271308.1:p.Ser84Thr, NP_001308774.1:p.Ser32Asn, NP_001308774.1:p.Ser32Thr, NP_001271306.1:p.Ser78Asn, NP_001271306.1:p.Ser78Thr, NP_001308775.1:p.Ser56Asn, NP_001308775.1:p.Ser56Thr, NP_001271307.1:p.Ser78Asn, NP_001271307.1:p.Ser78Thr

              7.

              rs1460850951 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                15:75339075 (GRCh38)
                15:75631416 (GRCh37)
                Canonical SPDI:
                NC_000015.10:75339074:G:A
                Gene:
                COMMD4 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000008/2 (TOPMED)
                HGVS:
                NC_000015.10:g.75339075G>A, NC_000015.9:g.75631416G>A, NM_017828.5:c.272G>A, NM_017828.4:c.272G>A, NM_017828.3:c.272G>A, XM_005254509.4:c.353G>A, XM_005254509.3:c.353G>A, XM_005254509.2:c.353G>A, XM_005254509.1:c.353G>A, XM_005254510.4:c.287G>A, XM_005254510.3:c.287G>A, XM_005254510.2:c.287G>A, XM_005254510.1:c.287G>A, XM_011521739.3:c.362G>A, XM_011521739.2:c.362G>A, XM_011521739.1:c.362G>A, XM_011521741.3:c.362G>A, XM_011521741.2:c.362G>A, XM_011521741.1:c.362G>A, NR_104312.2:n.299G>A, NR_104312.1:n.366G>A, NM_001321844.2:c.200G>A, NM_001321844.1:c.200G>A, XM_011521740.2:c.296G>A, XM_011521740.1:c.296G>A, NM_001321848.2:c.290G>A, NM_001321848.1:c.290G>A, NR_104313.2:n.247G>A, NR_104313.1:n.314G>A, NM_001321847.2:c.206G>A, NM_001321847.1:c.206G>A, XM_017022385.2:c.296G>A, XM_017022385.1:c.296G>A, NM_001284379.2:c.290G>A, NM_001284379.1:c.290G>A, NM_001321845.2:c.134G>A, NM_001321845.1:c.134G>A, NM_001284377.2:c.272G>A, NM_001284377.1:c.272G>A, NM_001321846.2:c.206G>A, NM_001321846.1:c.206G>A, NM_001284378.2:c.272G>A, NM_001284378.1:c.272G>A, NP_060298.2:p.Ser91Asn, XP_005254566.1:p.Ser118Asn, XP_005254567.1:p.Ser96Asn, XP_011520041.1:p.Ser121Asn, XP_011520043.1:p.Ser121Asn, NP_001308773.1:p.Ser67Asn, XP_011520042.1:p.Ser99Asn, NP_001308777.1:p.Ser97Asn, NP_001308776.1:p.Ser69Asn, XP_016877874.1:p.Ser99Asn, NP_001271308.1:p.Ser97Asn, NP_001308774.1:p.Ser45Asn, NP_001271306.1:p.Ser91Asn, NP_001308775.1:p.Ser69Asn, NP_001271307.1:p.Ser91Asn

                8.

                rs1453088501 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  15:75338085 (GRCh38)
                  15:75630426 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:75338084:G:A
                  Gene:
                  COMMD4 (Varview)
                  Functional Consequence:
                  5_prime_UTR_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000007/1 (GnomAD)
                  A=0.000008/2 (TOPMED)
                  A=0.000106/2 (TOMMO)
                  HGVS:
                  NC_000015.10:g.75338085G>A, NC_000015.9:g.75630426G>A, NM_017828.5:c.27G>A, NM_017828.4:c.27G>A, NM_017828.3:c.27G>A, XM_005254509.4:c.108G>A, XM_005254509.3:c.108G>A, XM_005254509.2:c.108G>A, XM_005254509.1:c.108G>A, XM_005254510.4:c.108G>A, XM_005254510.3:c.108G>A, XM_005254510.2:c.108G>A, XM_005254510.1:c.108G>A, XM_011521739.3:c.117G>A, XM_011521739.2:c.117G>A, XM_011521739.1:c.117G>A, XM_011521741.3:c.117G>A, XM_011521741.2:c.117G>A, XM_011521741.1:c.117G>A, NR_104312.2:n.54G>A, NR_104312.1:n.121G>A, NM_001321844.2:c.-46G>A, NM_001321844.1:c.-46G>A, XM_011521740.2:c.117G>A, XM_011521740.1:c.117G>A, NR_104313.2:n.54G>A, NR_104313.1:n.121G>A, NM_001321847.2:c.27G>A, NM_001321847.1:c.27G>A, XM_017022385.2:c.117G>A, XM_017022385.1:c.117G>A, NM_001284377.2:c.27G>A, NM_001284377.1:c.27G>A, NM_001321846.2:c.27G>A, NM_001321846.1:c.27G>A, NM_001284378.2:c.27G>A, NM_001284378.1:c.27G>A

                  9.

                  rs1441643498 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    15:75338419 (GRCh38)
                    15:75630760 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:75338418:A:G
                    Gene:
                    COMMD4 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000015.10:g.75338419A>G, NC_000015.9:g.75630760A>G, NM_017828.5:c.140A>G, NM_017828.4:c.140A>G, NM_017828.3:c.140A>G, XM_005254509.4:c.221A>G, XM_005254509.3:c.221A>G, XM_005254509.2:c.221A>G, XM_005254509.1:c.221A>G, XM_011521739.3:c.230A>G, XM_011521739.2:c.230A>G, XM_011521739.1:c.230A>G, XM_011521741.3:c.230A>G, XM_011521741.2:c.230A>G, XM_011521741.1:c.230A>G, NR_104312.2:n.167A>G, NR_104312.1:n.234A>G, NM_001321844.2:c.68A>G, NM_001321844.1:c.68A>G, NM_001321848.2:c.158A>G, NM_001321848.1:c.158A>G, NR_104313.2:n.167A>G, NR_104313.1:n.234A>G, NM_001284379.2:c.158A>G, NM_001284379.1:c.158A>G, NM_001284377.2:c.140A>G, NM_001284377.1:c.140A>G, NM_001284378.2:c.140A>G, NM_001284378.1:c.140A>G, NP_060298.2:p.Asp47Gly, XP_005254566.1:p.Asp74Gly, XP_011520041.1:p.Asp77Gly, XP_011520043.1:p.Asp77Gly, NP_001308773.1:p.Asp23Gly, NP_001308777.1:p.Asp53Gly, NP_001271308.1:p.Asp53Gly, NP_001271306.1:p.Asp47Gly, NP_001271307.1:p.Asp47Gly

                    10.

                    rs1434050184 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      15:75338108 (GRCh38)
                      15:75630449 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:75338107:C:T
                      Gene:
                      COMMD4 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant,5_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000014/2 (GnomAD)
                      T=0.000026/7 (TOPMED)
                      HGVS:
                      NC_000015.10:g.75338108C>T, NC_000015.9:g.75630449C>T, NM_017828.5:c.50C>T, NM_017828.4:c.50C>T, NM_017828.3:c.50C>T, XM_005254509.4:c.131C>T, XM_005254509.3:c.131C>T, XM_005254509.2:c.131C>T, XM_005254509.1:c.131C>T, XM_005254510.4:c.131C>T, XM_005254510.3:c.131C>T, XM_005254510.2:c.131C>T, XM_005254510.1:c.131C>T, XM_011521739.3:c.140C>T, XM_011521739.2:c.140C>T, XM_011521739.1:c.140C>T, XM_011521741.3:c.140C>T, XM_011521741.2:c.140C>T, XM_011521741.1:c.140C>T, NR_104312.2:n.77C>T, NR_104312.1:n.144C>T, NM_001321844.2:c.-23C>T, NM_001321844.1:c.-23C>T, XM_011521740.2:c.140C>T, XM_011521740.1:c.140C>T, NR_104313.2:n.77C>T, NR_104313.1:n.144C>T, NM_001321847.2:c.50C>T, NM_001321847.1:c.50C>T, XM_017022385.2:c.140C>T, XM_017022385.1:c.140C>T, NM_001284377.2:c.50C>T, NM_001284377.1:c.50C>T, NM_001321846.2:c.50C>T, NM_001321846.1:c.50C>T, NM_001284378.2:c.50C>T, NM_001284378.1:c.50C>T, NP_060298.2:p.Ala17Val, XP_005254566.1:p.Ala44Val, XP_005254567.1:p.Ala44Val, XP_011520041.1:p.Ala47Val, XP_011520043.1:p.Ala47Val, XP_011520042.1:p.Ala47Val, NP_001308776.1:p.Ala17Val, XP_016877874.1:p.Ala47Val, NP_001271306.1:p.Ala17Val, NP_001308775.1:p.Ala17Val, NP_001271307.1:p.Ala17Val

                      11.

                      rs1431100164 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        15:75338071 (GRCh38)
                        15:75630412 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:75338070:T:C
                        Gene:
                        COMMD4 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant,5_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (GnomAD_exomes)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000015.10:g.75338071T>C, NC_000015.9:g.75630412T>C, NM_017828.5:c.13T>C, NM_017828.4:c.13T>C, NM_017828.3:c.13T>C, XM_005254509.4:c.94T>C, XM_005254509.3:c.94T>C, XM_005254509.2:c.94T>C, XM_005254509.1:c.94T>C, XM_005254510.4:c.94T>C, XM_005254510.3:c.94T>C, XM_005254510.2:c.94T>C, XM_005254510.1:c.94T>C, XM_011521739.3:c.103T>C, XM_011521739.2:c.103T>C, XM_011521739.1:c.103T>C, XM_011521741.3:c.103T>C, XM_011521741.2:c.103T>C, XM_011521741.1:c.103T>C, NR_104312.2:n.40T>C, NR_104312.1:n.107T>C, NM_001321844.2:c.-60T>C, NM_001321844.1:c.-60T>C, XM_011521740.2:c.103T>C, XM_011521740.1:c.103T>C, NR_104313.2:n.40T>C, NR_104313.1:n.107T>C, NM_001321847.2:c.13T>C, NM_001321847.1:c.13T>C, XM_017022385.2:c.103T>C, XM_017022385.1:c.103T>C, NM_001284377.2:c.13T>C, NM_001284377.1:c.13T>C, NM_001321846.2:c.13T>C, NM_001321846.1:c.13T>C, NM_001284378.2:c.13T>C, NM_001284378.1:c.13T>C, NP_060298.2:p.Phe5Leu, XP_005254566.1:p.Phe32Leu, XP_005254567.1:p.Phe32Leu, XP_011520041.1:p.Phe35Leu, XP_011520043.1:p.Phe35Leu, XP_011520042.1:p.Phe35Leu, NP_001308776.1:p.Phe5Leu, XP_016877874.1:p.Phe35Leu, NP_001271306.1:p.Phe5Leu, NP_001308775.1:p.Phe5Leu, NP_001271307.1:p.Phe5Leu

                        12.

                        rs1423012987 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          G>- [Show Flanks]
                          Chromosome:
                          15:75338663 (GRCh38)
                          15:75631004 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:75338662:G:
                          Gene:
                          COMMD4 (Varview)
                          Functional Consequence:
                          frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          -=0./0 (ALFA)
                          -=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000015.10:g.75338663del, NC_000015.9:g.75631004del, NM_017828.5:c.159del, NM_017828.4:c.159del, NM_017828.3:c.159del, XM_005254509.4:c.240del, XM_005254509.3:c.240del, XM_005254509.2:c.240del, XM_005254509.1:c.240del, XM_005254510.4:c.174del, XM_005254510.3:c.174del, XM_005254510.2:c.174del, XM_005254510.1:c.174del, XM_011521739.3:c.249del, XM_011521739.2:c.249del, XM_011521739.1:c.249del, XM_011521741.3:c.249del, XM_011521741.2:c.249del, XM_011521741.1:c.249del, NR_104312.2:n.186del, NR_104312.1:n.253del, NM_001321844.2:c.87del, NM_001321844.1:c.87del, XM_011521740.2:c.183del, XM_011521740.1:c.183del, NM_001321848.2:c.177del, NM_001321848.1:c.177del, NR_104313.2:n.186del, NR_104313.1:n.253del, NM_001321847.2:c.93del, NM_001321847.1:c.93del, XM_017022385.2:c.183del, XM_017022385.1:c.183del, NM_001284379.2:c.177del, NM_001284379.1:c.177del, NM_001321845.2:c.21del, NM_001321845.1:c.21del, NM_001284377.2:c.159del, NM_001284377.1:c.159del, NM_001321846.2:c.93del, NM_001321846.1:c.93del, NM_001284378.2:c.159del, NM_001284378.1:c.159del, NP_060298.2:p.Lys53fs, XP_005254566.1:p.Lys80fs, XP_005254567.1:p.Lys58fs, XP_011520041.1:p.Lys83fs, XP_011520043.1:p.Lys83fs, NP_001308773.1:p.Lys29fs, XP_011520042.1:p.Lys61fs, NP_001308777.1:p.Lys59fs, NP_001308776.1:p.Lys31fs, XP_016877874.1:p.Lys61fs, NP_001271308.1:p.Lys59fs, NP_001308774.1:p.Lys7fs, NP_001271306.1:p.Lys53fs, NP_001308775.1:p.Lys31fs, NP_001271307.1:p.Lys53fs

                          13.

                          rs1418132548 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,G,T [Show Flanks]
                            Chromosome:
                            15:75339984 (GRCh38)
                            15:75632325 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:75339983:C:A,NC_000015.10:75339983:C:G,NC_000015.10:75339983:C:T
                            Gene:
                            COMMD4 (Varview)
                            Functional Consequence:
                            synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000015.10:g.75339984C>A, NC_000015.10:g.75339984C>G, NC_000015.10:g.75339984C>T, NC_000015.9:g.75632325C>A, NC_000015.9:g.75632325C>G, NC_000015.9:g.75632325C>T, NM_017828.5:c.579C>A, NM_017828.5:c.579C>G, NM_017828.5:c.579C>T, NM_017828.4:c.579C>A, NM_017828.4:c.579C>G, NM_017828.4:c.579C>T, NM_017828.3:c.579C>A, NM_017828.3:c.579C>G, NM_017828.3:c.579C>T, XM_005254509.4:c.660C>A, XM_005254509.4:c.660C>G, XM_005254509.4:c.660C>T, XM_005254509.3:c.660C>A, XM_005254509.3:c.660C>G, XM_005254509.3:c.660C>T, XM_005254509.2:c.660C>A, XM_005254509.2:c.660C>G, XM_005254509.2:c.660C>T, XM_005254509.1:c.660C>A, XM_005254509.1:c.660C>G, XM_005254509.1:c.660C>T, XM_005254510.4:c.594C>A, XM_005254510.4:c.594C>G, XM_005254510.4:c.594C>T, XM_005254510.3:c.594C>A, XM_005254510.3:c.594C>G, XM_005254510.3:c.594C>T, XM_005254510.2:c.594C>A, XM_005254510.2:c.594C>G, XM_005254510.2:c.594C>T, XM_005254510.1:c.594C>A, XM_005254510.1:c.594C>G, XM_005254510.1:c.594C>T, XM_011521739.3:c.669C>A, XM_011521739.3:c.669C>G, XM_011521739.3:c.669C>T, XM_011521739.2:c.669C>A, XM_011521739.2:c.669C>G, XM_011521739.2:c.669C>T, XM_011521739.1:c.669C>A, XM_011521739.1:c.669C>G, XM_011521739.1:c.669C>T, XM_011521741.3:c.492C>A, XM_011521741.3:c.492C>G, XM_011521741.3:c.492C>T, XM_011521741.2:c.492C>A, XM_011521741.2:c.492C>G, XM_011521741.2:c.492C>T, XM_011521741.1:c.492C>A, XM_011521741.1:c.492C>G, XM_011521741.1:c.492C>T, NR_104312.2:n.606C>A, NR_104312.2:n.606C>G, NR_104312.2:n.606C>T, NR_104312.1:n.673C>A, NR_104312.1:n.673C>G, NR_104312.1:n.673C>T, NM_001321844.2:c.507C>A, NM_001321844.2:c.507C>G, NM_001321844.2:c.507C>T, NM_001321844.1:c.507C>A, NM_001321844.1:c.507C>G, NM_001321844.1:c.507C>T, XM_011521740.2:c.603C>A, XM_011521740.2:c.603C>G, XM_011521740.2:c.603C>T, XM_011521740.1:c.603C>A, XM_011521740.1:c.603C>G, XM_011521740.1:c.603C>T, NM_001321848.2:c.597C>A, NM_001321848.2:c.597C>G, NM_001321848.2:c.597C>T, NM_001321848.1:c.597C>A, NM_001321848.1:c.597C>G, NM_001321848.1:c.597C>T, NR_104313.2:n.554C>A, NR_104313.2:n.554C>G, NR_104313.2:n.554C>T, NR_104313.1:n.621C>A, NR_104313.1:n.621C>G, NR_104313.1:n.621C>T, NM_001321847.2:c.513C>A, NM_001321847.2:c.513C>G, NM_001321847.2:c.513C>T, NM_001321847.1:c.513C>A, NM_001321847.1:c.513C>G, NM_001321847.1:c.513C>T, XM_017022385.2:c.426C>A, XM_017022385.2:c.426C>G, XM_017022385.2:c.426C>T, XM_017022385.1:c.426C>A, XM_017022385.1:c.426C>G, XM_017022385.1:c.426C>T, NM_001284379.2:c.420C>A, NM_001284379.2:c.420C>G, NM_001284379.2:c.420C>T, NM_001284379.1:c.420C>A, NM_001284379.1:c.420C>G, NM_001284379.1:c.420C>T, NM_001321845.2:c.441C>A, NM_001321845.2:c.441C>G, NM_001321845.2:c.441C>T, NM_001321845.1:c.441C>A, NM_001321845.1:c.441C>G, NM_001321845.1:c.441C>T, NM_001284377.2:c.402C>A, NM_001284377.2:c.402C>G, NM_001284377.2:c.402C>T, NM_001284377.1:c.402C>A, NM_001284377.1:c.402C>G, NM_001284377.1:c.402C>T, NM_001321846.2:c.336C>A, NM_001321846.2:c.336C>G, NM_001321846.2:c.336C>T, NM_001321846.1:c.336C>A, NM_001321846.1:c.336C>G, NM_001321846.1:c.336C>T, NM_001284378.2:c.321C>A, NM_001284378.2:c.321C>G, NM_001284378.2:c.321C>T, NM_001284378.1:c.321C>A, NM_001284378.1:c.321C>G, NM_001284378.1:c.321C>T

                            14.

                            rs1389920314 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              15:75339993 (GRCh38)
                              15:75632334 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:75339992:C:G,NC_000015.10:75339992:C:T
                              Gene:
                              COMMD4 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              T=0.000035/1 (TOMMO)
                              HGVS:
                              NC_000015.10:g.75339993C>G, NC_000015.10:g.75339993C>T, NC_000015.9:g.75632334C>G, NC_000015.9:g.75632334C>T, NM_017828.5:c.588C>G, NM_017828.5:c.588C>T, NM_017828.4:c.588C>G, NM_017828.4:c.588C>T, NM_017828.3:c.588C>G, NM_017828.3:c.588C>T, XM_005254509.4:c.669C>G, XM_005254509.4:c.669C>T, XM_005254509.3:c.669C>G, XM_005254509.3:c.669C>T, XM_005254509.2:c.669C>G, XM_005254509.2:c.669C>T, XM_005254509.1:c.669C>G, XM_005254509.1:c.669C>T, XM_005254510.4:c.603C>G, XM_005254510.4:c.603C>T, XM_005254510.3:c.603C>G, XM_005254510.3:c.603C>T, XM_005254510.2:c.603C>G, XM_005254510.2:c.603C>T, XM_005254510.1:c.603C>G, XM_005254510.1:c.603C>T, XM_011521739.3:c.678C>G, XM_011521739.3:c.678C>T, XM_011521739.2:c.678C>G, XM_011521739.2:c.678C>T, XM_011521739.1:c.678C>G, XM_011521739.1:c.678C>T, XM_011521741.3:c.501C>G, XM_011521741.3:c.501C>T, XM_011521741.2:c.501C>G, XM_011521741.2:c.501C>T, XM_011521741.1:c.501C>G, XM_011521741.1:c.501C>T, NR_104312.2:n.615C>G, NR_104312.2:n.615C>T, NR_104312.1:n.682C>G, NR_104312.1:n.682C>T, NM_001321844.2:c.516C>G, NM_001321844.2:c.516C>T, NM_001321844.1:c.516C>G, NM_001321844.1:c.516C>T, XM_011521740.2:c.612C>G, XM_011521740.2:c.612C>T, XM_011521740.1:c.612C>G, XM_011521740.1:c.612C>T, NM_001321848.2:c.606C>G, NM_001321848.2:c.606C>T, NM_001321848.1:c.606C>G, NM_001321848.1:c.606C>T, NR_104313.2:n.563C>G, NR_104313.2:n.563C>T, NR_104313.1:n.630C>G, NR_104313.1:n.630C>T, NM_001321847.2:c.522C>G, NM_001321847.2:c.522C>T, NM_001321847.1:c.522C>G, NM_001321847.1:c.522C>T, XM_017022385.2:c.435C>G, XM_017022385.2:c.435C>T, XM_017022385.1:c.435C>G, XM_017022385.1:c.435C>T, NM_001284379.2:c.429C>G, NM_001284379.2:c.429C>T, NM_001284379.1:c.429C>G, NM_001284379.1:c.429C>T, NM_001321845.2:c.450C>G, NM_001321845.2:c.450C>T, NM_001321845.1:c.450C>G, NM_001321845.1:c.450C>T, NM_001284377.2:c.411C>G, NM_001284377.2:c.411C>T, NM_001284377.1:c.411C>G, NM_001284377.1:c.411C>T, NM_001321846.2:c.345C>G, NM_001321846.2:c.345C>T, NM_001321846.1:c.345C>G, NM_001321846.1:c.345C>T, NM_001284378.2:c.330C>G, NM_001284378.2:c.330C>T, NM_001284378.1:c.330C>G, NM_001284378.1:c.330C>T, NP_060298.2:p.Ser196Arg, XP_005254566.1:p.Ser223Arg, XP_005254567.1:p.Ser201Arg, XP_011520041.1:p.Ser226Arg, XP_011520043.1:p.Ser167Arg, NP_001308773.1:p.Ser172Arg, XP_011520042.1:p.Ser204Arg, NP_001308777.1:p.Ser202Arg, NP_001308776.1:p.Ser174Arg, XP_016877874.1:p.Ser145Arg, NP_001271308.1:p.Ser143Arg, NP_001308774.1:p.Ser150Arg, NP_001271306.1:p.Ser137Arg, NP_001308775.1:p.Ser115Arg, NP_001271307.1:p.Ser110Arg

                              15.

                              rs1387899839 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                15:75338127 (GRCh38)
                                15:75630468 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:75338126:C:G,NC_000015.10:75338126:C:T
                                Gene:
                                COMMD4 (Varview)
                                Functional Consequence:
                                intron_variant,5_prime_UTR_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                G=0.001092/2 (Korea1K)
                                HGVS:
                                NC_000015.10:g.75338127C>G, NC_000015.10:g.75338127C>T, NC_000015.9:g.75630468C>G, NC_000015.9:g.75630468C>T, NM_017828.5:c.69C>G, NM_017828.5:c.69C>T, NM_017828.4:c.69C>G, NM_017828.4:c.69C>T, NM_017828.3:c.69C>G, NM_017828.3:c.69C>T, XM_005254509.4:c.150C>G, XM_005254509.4:c.150C>T, XM_005254509.3:c.150C>G, XM_005254509.3:c.150C>T, XM_005254509.2:c.150C>G, XM_005254509.2:c.150C>T, XM_005254509.1:c.150C>G, XM_005254509.1:c.150C>T, XM_005254510.4:c.150C>G, XM_005254510.4:c.150C>T, XM_005254510.3:c.150C>G, XM_005254510.3:c.150C>T, XM_005254510.2:c.150C>G, XM_005254510.2:c.150C>T, XM_005254510.1:c.150C>G, XM_005254510.1:c.150C>T, XM_011521739.3:c.159C>G, XM_011521739.3:c.159C>T, XM_011521739.2:c.159C>G, XM_011521739.2:c.159C>T, XM_011521739.1:c.159C>G, XM_011521739.1:c.159C>T, XM_011521741.3:c.159C>G, XM_011521741.3:c.159C>T, XM_011521741.2:c.159C>G, XM_011521741.2:c.159C>T, XM_011521741.1:c.159C>G, XM_011521741.1:c.159C>T, NR_104312.2:n.96C>G, NR_104312.2:n.96C>T, NR_104312.1:n.163C>G, NR_104312.1:n.163C>T, NM_001321844.2:c.-4C>G, NM_001321844.2:c.-4C>T, NM_001321844.1:c.-4C>G, NM_001321844.1:c.-4C>T, XM_011521740.2:c.159C>G, XM_011521740.2:c.159C>T, XM_011521740.1:c.159C>G, XM_011521740.1:c.159C>T, NR_104313.2:n.96C>G, NR_104313.2:n.96C>T, NR_104313.1:n.163C>G, NR_104313.1:n.163C>T, NM_001321847.2:c.69C>G, NM_001321847.2:c.69C>T, NM_001321847.1:c.69C>G, NM_001321847.1:c.69C>T, XM_017022385.2:c.159C>G, XM_017022385.2:c.159C>T, XM_017022385.1:c.159C>G, XM_017022385.1:c.159C>T, NM_001284377.2:c.69C>G, NM_001284377.2:c.69C>T, NM_001284377.1:c.69C>G, NM_001284377.1:c.69C>T, NM_001321846.2:c.69C>G, NM_001321846.2:c.69C>T, NM_001321846.1:c.69C>G, NM_001321846.1:c.69C>T, NM_001284378.2:c.69C>G, NM_001284378.2:c.69C>T, NM_001284378.1:c.69C>G, NM_001284378.1:c.69C>T

                                16.

                                rs1385381633 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  15:75338097 (GRCh38)
                                  15:75630438 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:75338096:C:G
                                  Gene:
                                  COMMD4 (Varview)
                                  Functional Consequence:
                                  intron_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (GnomAD_exomes)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000014/2 (GnomAD)
                                  HGVS:
                                  NC_000015.10:g.75338097C>G, NC_000015.9:g.75630438C>G, NM_017828.5:c.39C>G, NM_017828.4:c.39C>G, NM_017828.3:c.39C>G, XM_005254509.4:c.120C>G, XM_005254509.3:c.120C>G, XM_005254509.2:c.120C>G, XM_005254509.1:c.120C>G, XM_005254510.4:c.120C>G, XM_005254510.3:c.120C>G, XM_005254510.2:c.120C>G, XM_005254510.1:c.120C>G, XM_011521739.3:c.129C>G, XM_011521739.2:c.129C>G, XM_011521739.1:c.129C>G, XM_011521741.3:c.129C>G, XM_011521741.2:c.129C>G, XM_011521741.1:c.129C>G, NR_104312.2:n.66C>G, NR_104312.1:n.133C>G, NM_001321844.2:c.-34C>G, NM_001321844.1:c.-34C>G, XM_011521740.2:c.129C>G, XM_011521740.1:c.129C>G, NR_104313.2:n.66C>G, NR_104313.1:n.133C>G, NM_001321847.2:c.39C>G, NM_001321847.1:c.39C>G, XM_017022385.2:c.129C>G, XM_017022385.1:c.129C>G, NM_001284377.2:c.39C>G, NM_001284377.1:c.39C>G, NM_001321846.2:c.39C>G, NM_001321846.1:c.39C>G, NM_001284378.2:c.39C>G, NM_001284378.1:c.39C>G, NP_060298.2:p.Asp13Glu, XP_005254566.1:p.Asp40Glu, XP_005254567.1:p.Asp40Glu, XP_011520041.1:p.Asp43Glu, XP_011520043.1:p.Asp43Glu, XP_011520042.1:p.Asp43Glu, NP_001308776.1:p.Asp13Glu, XP_016877874.1:p.Asp43Glu, NP_001271306.1:p.Asp13Glu, NP_001308775.1:p.Asp13Glu, NP_001271307.1:p.Asp13Glu

                                  17.

                                  rs1380740217 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    15:75338078 (GRCh38)
                                    15:75630419 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:75338077:G:A
                                    Gene:
                                    COMMD4 (Varview)
                                    Functional Consequence:
                                    intron_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
                                    HGVS:
                                    NC_000015.10:g.75338078G>A, NC_000015.9:g.75630419G>A, NM_017828.5:c.20G>A, NM_017828.4:c.20G>A, NM_017828.3:c.20G>A, XM_005254509.4:c.101G>A, XM_005254509.3:c.101G>A, XM_005254509.2:c.101G>A, XM_005254509.1:c.101G>A, XM_005254510.4:c.101G>A, XM_005254510.3:c.101G>A, XM_005254510.2:c.101G>A, XM_005254510.1:c.101G>A, XM_011521739.3:c.110G>A, XM_011521739.2:c.110G>A, XM_011521739.1:c.110G>A, XM_011521741.3:c.110G>A, XM_011521741.2:c.110G>A, XM_011521741.1:c.110G>A, NR_104312.2:n.47G>A, NR_104312.1:n.114G>A, NM_001321844.2:c.-53G>A, NM_001321844.1:c.-53G>A, XM_011521740.2:c.110G>A, XM_011521740.1:c.110G>A, NR_104313.2:n.47G>A, NR_104313.1:n.114G>A, NM_001321847.2:c.20G>A, NM_001321847.1:c.20G>A, XM_017022385.2:c.110G>A, XM_017022385.1:c.110G>A, NM_001284377.2:c.20G>A, NM_001284377.1:c.20G>A, NM_001321846.2:c.20G>A, NM_001321846.1:c.20G>A, NM_001284378.2:c.20G>A, NM_001284378.1:c.20G>A, NP_060298.2:p.Gly7Asp, XP_005254566.1:p.Gly34Asp, XP_005254567.1:p.Gly34Asp, XP_011520041.1:p.Gly37Asp, XP_011520043.1:p.Gly37Asp, XP_011520042.1:p.Gly37Asp, NP_001308776.1:p.Gly7Asp, XP_016877874.1:p.Gly37Asp, NP_001271306.1:p.Gly7Asp, NP_001308775.1:p.Gly7Asp, NP_001271307.1:p.Gly7Asp

                                    18.

                                    rs1378179037 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      15:75338110 (GRCh38)
                                      15:75630451 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:75338109:G:A
                                      Gene:
                                      COMMD4 (Varview)
                                      Functional Consequence:
                                      intron_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
                                      HGVS:
                                      NC_000015.10:g.75338110G>A, NC_000015.9:g.75630451G>A, NM_017828.5:c.52G>A, NM_017828.4:c.52G>A, NM_017828.3:c.52G>A, XM_005254509.4:c.133G>A, XM_005254509.3:c.133G>A, XM_005254509.2:c.133G>A, XM_005254509.1:c.133G>A, XM_005254510.4:c.133G>A, XM_005254510.3:c.133G>A, XM_005254510.2:c.133G>A, XM_005254510.1:c.133G>A, XM_011521739.3:c.142G>A, XM_011521739.2:c.142G>A, XM_011521739.1:c.142G>A, XM_011521741.3:c.142G>A, XM_011521741.2:c.142G>A, XM_011521741.1:c.142G>A, NR_104312.2:n.79G>A, NR_104312.1:n.146G>A, NM_001321844.2:c.-21G>A, NM_001321844.1:c.-21G>A, XM_011521740.2:c.142G>A, XM_011521740.1:c.142G>A, NR_104313.2:n.79G>A, NR_104313.1:n.146G>A, NM_001321847.2:c.52G>A, NM_001321847.1:c.52G>A, XM_017022385.2:c.142G>A, XM_017022385.1:c.142G>A, NM_001284377.2:c.52G>A, NM_001284377.1:c.52G>A, NM_001321846.2:c.52G>A, NM_001321846.1:c.52G>A, NM_001284378.2:c.52G>A, NM_001284378.1:c.52G>A, NP_060298.2:p.Glu18Lys, XP_005254566.1:p.Glu45Lys, XP_005254567.1:p.Glu45Lys, XP_011520041.1:p.Glu48Lys, XP_011520043.1:p.Glu48Lys, XP_011520042.1:p.Glu48Lys, NP_001308776.1:p.Glu18Lys, XP_016877874.1:p.Glu48Lys, NP_001271306.1:p.Glu18Lys, NP_001308775.1:p.Glu18Lys, NP_001271307.1:p.Glu18Lys

                                      19.

                                      rs1376258149 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        15:75338654 (GRCh38)
                                        15:75630995 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:75338653:G:T
                                        Gene:
                                        COMMD4 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0.000071/1 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000015.10:g.75338654G>T, NC_000015.9:g.75630995G>T, NM_017828.5:c.150G>T, NM_017828.4:c.150G>T, NM_017828.3:c.150G>T, XM_005254509.4:c.231G>T, XM_005254509.3:c.231G>T, XM_005254509.2:c.231G>T, XM_005254509.1:c.231G>T, XM_005254510.4:c.165G>T, XM_005254510.3:c.165G>T, XM_005254510.2:c.165G>T, XM_005254510.1:c.165G>T, XM_011521739.3:c.240G>T, XM_011521739.2:c.240G>T, XM_011521739.1:c.240G>T, XM_011521741.3:c.240G>T, XM_011521741.2:c.240G>T, XM_011521741.1:c.240G>T, NR_104312.2:n.177G>T, NR_104312.1:n.244G>T, NM_001321844.2:c.78G>T, NM_001321844.1:c.78G>T, XM_011521740.2:c.174G>T, XM_011521740.1:c.174G>T, NM_001321848.2:c.168G>T, NM_001321848.1:c.168G>T, NR_104313.2:n.177G>T, NR_104313.1:n.244G>T, NM_001321847.2:c.84G>T, NM_001321847.1:c.84G>T, XM_017022385.2:c.174G>T, XM_017022385.1:c.174G>T, NM_001284379.2:c.168G>T, NM_001284379.1:c.168G>T, NM_001321845.2:c.12G>T, NM_001321845.1:c.12G>T, NM_001284377.2:c.150G>T, NM_001284377.1:c.150G>T, NM_001321846.2:c.84G>T, NM_001321846.1:c.84G>T, NM_001284378.2:c.150G>T, NM_001284378.1:c.150G>T, NP_060298.2:p.Lys50Asn, XP_005254566.1:p.Lys77Asn, XP_005254567.1:p.Lys55Asn, XP_011520041.1:p.Lys80Asn, XP_011520043.1:p.Lys80Asn, NP_001308773.1:p.Lys26Asn, XP_011520042.1:p.Lys58Asn, NP_001308777.1:p.Lys56Asn, NP_001308776.1:p.Lys28Asn, XP_016877874.1:p.Lys58Asn, NP_001271308.1:p.Lys56Asn, NP_001308774.1:p.Lys4Asn, NP_001271306.1:p.Lys50Asn, NP_001308775.1:p.Lys28Asn, NP_001271307.1:p.Lys50Asn

                                        20.

                                        rs1370137156 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          15:75338996 (GRCh38)
                                          15:75631337 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:75338995:G:A
                                          Gene:
                                          COMMD4 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000015.10:g.75338996G>A, NC_000015.9:g.75631337G>A, NM_017828.5:c.193G>A, NM_017828.4:c.193G>A, NM_017828.3:c.193G>A, XM_005254509.4:c.274G>A, XM_005254509.3:c.274G>A, XM_005254509.2:c.274G>A, XM_005254509.1:c.274G>A, XM_005254510.4:c.208G>A, XM_005254510.3:c.208G>A, XM_005254510.2:c.208G>A, XM_005254510.1:c.208G>A, XM_011521739.3:c.283G>A, XM_011521739.2:c.283G>A, XM_011521739.1:c.283G>A, XM_011521741.3:c.283G>A, XM_011521741.2:c.283G>A, XM_011521741.1:c.283G>A, NR_104312.2:n.220G>A, NR_104312.1:n.287G>A, NM_001321844.2:c.121G>A, NM_001321844.1:c.121G>A, XM_011521740.2:c.217G>A, XM_011521740.1:c.217G>A, NM_001321848.2:c.211G>A, NM_001321848.1:c.211G>A, NM_001321847.2:c.127G>A, NM_001321847.1:c.127G>A, XM_017022385.2:c.217G>A, XM_017022385.1:c.217G>A, NM_001284379.2:c.211G>A, NM_001284379.1:c.211G>A, NM_001321845.2:c.55G>A, NM_001321845.1:c.55G>A, NM_001284377.2:c.193G>A, NM_001284377.1:c.193G>A, NM_001321846.2:c.127G>A, NM_001321846.1:c.127G>A, NM_001284378.2:c.193G>A, NM_001284378.1:c.193G>A, NP_060298.2:p.Val65Met, XP_005254566.1:p.Val92Met, XP_005254567.1:p.Val70Met, XP_011520041.1:p.Val95Met, XP_011520043.1:p.Val95Met, NP_001308773.1:p.Val41Met, XP_011520042.1:p.Val73Met, NP_001308777.1:p.Val71Met, NP_001308776.1:p.Val43Met, XP_016877874.1:p.Val73Met, NP_001271308.1:p.Val71Met, NP_001308774.1:p.Val19Met, NP_001271306.1:p.Val65Met, NP_001308775.1:p.Val43Met, NP_001271307.1:p.Val65Met

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