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Items: 1 to 20 of 733

2.

rs1489290475 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GAT>- [Show Flanks]
    Chromosome:
    6:28325479 (GRCh38)
    6:28293256 (GRCh37)
    Canonical SPDI:
    NC_000006.12:28325476:ATGAT:AT
    Gene:
    ZSCAN31 (Varview)
    Functional Consequence:
    3_prime_UTR_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AT=0./0 (ALFA)
    -=0.000015/4 (TOPMED)
    -=0.000022/3 (GnomAD)
    HGVS:
    NC_000006.12:g.28325479_28325481del, NC_000006.11:g.28293256_28293258del, XM_005249296.6:c.*687_*689del, XM_005249296.5:c.*687_*689del, XM_005249296.4:c.*687_*689del, XM_005249296.3:c.*687_*689del, XM_005249296.2:c.*687_*689del, XM_005249296.1:c.*687_*689del, NM_030899.5:c.*687_*689del, NM_030899.4:c.*687_*689del, XM_011514808.4:c.*687_*689del, XM_011514808.3:c.*687_*689del, XM_011514808.2:c.*687_*689del, XM_011514808.1:c.*687_*689del, NM_145909.3:c.*687_*689del, NM_145909.2:c.*687_*689del, NM_145909.1:c.*687_*689del, XM_011514812.3:c.*687_*689del, XM_011514812.2:c.*687_*689del, XM_011514812.1:c.*687_*689del, XM_011514809.2:c.*687_*689del, XM_011514809.1:c.*687_*689del, XM_005249295.2:c.*687_*689del, XM_005249295.1:c.*687_*689del, XM_024446522.2:c.*687_*689del, XM_024446522.1:c.*687_*689del, XM_024446521.2:c.*687_*689del, XM_024446521.1:c.*687_*689del, NM_001135215.1:c.*687_*689del, XM_047419256.1:c.*687_*689del, NM_001135216.1:c.*687_*689del, XM_047419254.1:c.*687_*689del, XM_047419255.1:c.*687_*689del, NM_001243241.1:c.*687_*689del, XM_047419253.1:c.*687_*689del, XM_047419257.1:c.*687_*689del, NM_001243242.1:c.*687_*689del, NR_024164.1:n.1832_1834del, NM_001243243.1:c.*687_*689del, NR_024165.1:n.1821_1823del, NM_001243244.1:c.*687_*689del
    4.

    rs1483485689 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      6:28329718 (GRCh38)
      6:28297495 (GRCh37)
      Canonical SPDI:
      NC_000006.12:28329717:T:C
      Gene:
      ZSCAN31 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,5_prime_UTR_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      C=0.000007/1 (GnomAD)
      HGVS:
      5.

      rs1483356339 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        6:28326506 (GRCh38)
        6:28294283 (GRCh37)
        Canonical SPDI:
        NC_000006.12:28326505:G:A,NC_000006.12:28326505:G:C
        Gene:
        ZSCAN31 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        C=0.000004/1 (GnomAD_exomes)
        A=0.000004/1 (TOPMED)
        HGVS:
        NC_000006.12:g.28326506G>A, NC_000006.12:g.28326506G>C, NC_000006.11:g.28294283G>A, NC_000006.11:g.28294283G>C, XM_005249296.6:c.881C>T, XM_005249296.6:c.881C>G, XM_005249296.5:c.881C>T, XM_005249296.5:c.881C>G, XM_005249296.4:c.881C>T, XM_005249296.4:c.881C>G, XM_005249296.3:c.881C>T, XM_005249296.3:c.881C>G, XM_005249296.2:c.881C>T, XM_005249296.2:c.881C>G, XM_005249296.1:c.881C>T, XM_005249296.1:c.881C>G, NM_030899.5:c.881C>T, NM_030899.5:c.881C>G, NM_030899.4:c.881C>T, NM_030899.4:c.881C>G, XM_011514808.4:c.881C>T, XM_011514808.4:c.881C>G, XM_011514808.3:c.881C>T, XM_011514808.3:c.881C>G, XM_011514808.2:c.881C>T, XM_011514808.2:c.881C>G, XM_011514808.1:c.881C>T, XM_011514808.1:c.881C>G, NM_145909.3:c.881C>T, NM_145909.3:c.881C>G, NM_145909.2:c.881C>T, NM_145909.2:c.881C>G, NM_145909.1:c.881C>T, NM_145909.1:c.881C>G, XM_011514812.3:c.881C>T, XM_011514812.3:c.881C>G, XM_011514812.2:c.881C>T, XM_011514812.2:c.881C>G, XM_011514812.1:c.881C>T, XM_011514812.1:c.881C>G, XM_011514809.2:c.881C>T, XM_011514809.2:c.881C>G, XM_011514809.1:c.881C>T, XM_011514809.1:c.881C>G, XM_005249295.2:c.881C>T, XM_005249295.2:c.881C>G, XM_005249295.1:c.881C>T, XM_005249295.1:c.881C>G, XM_024446522.2:c.404C>T, XM_024446522.2:c.404C>G, XM_024446522.1:c.404C>T, XM_024446522.1:c.404C>G, XM_024446521.2:c.533C>T, XM_024446521.2:c.533C>G, XM_024446521.1:c.533C>T, XM_024446521.1:c.533C>G, XR_002956296.2:n.1705C>T, XR_002956296.2:n.1705C>G, XR_002956296.1:n.1632C>T, XR_002956296.1:n.1632C>G, XR_002956295.2:n.1270C>T, XR_002956295.2:n.1270C>G, XR_002956295.1:n.1047C>T, XR_002956295.1:n.1047C>G, NM_001135215.1:c.881C>T, NM_001135215.1:c.881C>G, XM_047419256.1:c.881C>T, XM_047419256.1:c.881C>G, NM_001135216.1:c.881C>T, NM_001135216.1:c.881C>G, XM_047419254.1:c.881C>T, XM_047419254.1:c.881C>G, XM_047419255.1:c.881C>T, XM_047419255.1:c.881C>G, NM_001243241.1:c.881C>T, NM_001243241.1:c.881C>G, XM_047419253.1:c.881C>T, XM_047419253.1:c.881C>G, XM_047419257.1:c.881C>T, XM_047419257.1:c.881C>G, NM_001243242.1:c.404C>T, NM_001243242.1:c.404C>G, NR_024164.1:n.805C>T, NR_024164.1:n.805C>G, NM_001243243.1:c.404C>T, NM_001243243.1:c.404C>G, NR_024165.1:n.794C>T, NR_024165.1:n.794C>G, NM_001243244.1:c.404C>T, NM_001243244.1:c.404C>G, XR_007059331.1:n.1694C>T, XR_007059331.1:n.1694C>G, XR_007059330.1:n.1206C>T, XR_007059330.1:n.1206C>G, XP_005249353.1:p.Pro294Leu, XP_005249353.1:p.Pro294Arg, NP_112161.3:p.Pro294Leu, NP_112161.3:p.Pro294Arg, XP_011513110.1:p.Pro294Leu, XP_011513110.1:p.Pro294Arg, NP_665916.1:p.Pro294Leu, NP_665916.1:p.Pro294Arg, XP_011513114.1:p.Pro294Leu, XP_011513114.1:p.Pro294Arg, XP_011513111.1:p.Pro294Leu, XP_011513111.1:p.Pro294Arg, XP_005249352.1:p.Pro294Leu, XP_005249352.1:p.Pro294Arg, XP_024302290.1:p.Pro135Leu, XP_024302290.1:p.Pro135Arg, XP_024302289.1:p.Pro178Leu, XP_024302289.1:p.Pro178Arg, NP_001128687.1:p.Pro294Leu, NP_001128687.1:p.Pro294Arg, XP_047275212.1:p.Pro294Leu, XP_047275212.1:p.Pro294Arg, NP_001128688.1:p.Pro294Leu, NP_001128688.1:p.Pro294Arg, XP_047275210.1:p.Pro294Leu, XP_047275210.1:p.Pro294Arg, XP_047275211.1:p.Pro294Leu, XP_047275211.1:p.Pro294Arg, NP_001230170.1:p.Pro294Leu, NP_001230170.1:p.Pro294Arg, XP_047275209.1:p.Pro294Leu, XP_047275209.1:p.Pro294Arg, XP_047275213.1:p.Pro294Leu, XP_047275213.1:p.Pro294Arg, NP_001230171.1:p.Pro135Leu, NP_001230171.1:p.Pro135Arg, NP_001230172.1:p.Pro135Leu, NP_001230172.1:p.Pro135Arg, NP_001230173.1:p.Pro135Leu, NP_001230173.1:p.Pro135Arg
        6.

        rs1483305884 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          6:28329397 (GRCh38)
          6:28297174 (GRCh37)
          Canonical SPDI:
          NC_000006.12:28329396:T:A
          Gene:
          ZSCAN31 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000006.12:g.28329397T>A, NC_000006.11:g.28297174T>A, XM_005249296.6:c.287A>T, XM_005249296.5:c.287A>T, XM_005249296.4:c.287A>T, XM_005249296.3:c.287A>T, XM_005249296.2:c.287A>T, XM_005249296.1:c.287A>T, NM_030899.5:c.287A>T, NM_030899.4:c.287A>T, XM_011514808.4:c.287A>T, XM_011514808.3:c.287A>T, XM_011514808.2:c.287A>T, XM_011514808.1:c.287A>T, NM_145909.3:c.287A>T, NM_145909.2:c.287A>T, NM_145909.1:c.287A>T, XM_011514812.3:c.287A>T, XM_011514812.2:c.287A>T, XM_011514812.1:c.287A>T, XM_011514809.2:c.287A>T, XM_011514809.1:c.287A>T, XM_005249295.2:c.287A>T, XM_005249295.1:c.287A>T, XR_002956296.2:n.1111A>T, XR_002956296.1:n.1038A>T, XR_002956295.2:n.676A>T, XR_002956295.1:n.453A>T, NM_001135215.1:c.287A>T, XM_047419256.1:c.287A>T, NM_001135216.1:c.287A>T, XM_047419254.1:c.287A>T, XM_047419255.1:c.287A>T, NM_001243241.1:c.287A>T, XM_047419253.1:c.287A>T, XM_047419257.1:c.287A>T, XR_007059331.1:n.1100A>T, XR_007059330.1:n.612A>T, XP_005249353.1:p.Gln96Leu, NP_112161.3:p.Gln96Leu, XP_011513110.1:p.Gln96Leu, NP_665916.1:p.Gln96Leu, XP_011513114.1:p.Gln96Leu, XP_011513111.1:p.Gln96Leu, XP_005249352.1:p.Gln96Leu, NP_001128687.1:p.Gln96Leu, XP_047275212.1:p.Gln96Leu, NP_001128688.1:p.Gln96Leu, XP_047275210.1:p.Gln96Leu, XP_047275211.1:p.Gln96Leu, NP_001230170.1:p.Gln96Leu, XP_047275209.1:p.Gln96Leu, XP_047275213.1:p.Gln96Leu
          7.

          rs1482786730 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            6:28327523 (GRCh38)
            6:28295300 (GRCh37)
            Canonical SPDI:
            NC_000006.12:28327522:T:A
            Gene:
            ZSCAN31 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0.000071/1 (ALFA)
            A=0.000008/2 (TOPMED)
            HGVS:
            NC_000006.12:g.28327523T>A, NC_000006.11:g.28295300T>A, XM_005249296.6:c.392A>T, XM_005249296.5:c.392A>T, XM_005249296.4:c.392A>T, XM_005249296.3:c.392A>T, XM_005249296.2:c.392A>T, XM_005249296.1:c.392A>T, NM_030899.5:c.392A>T, NM_030899.4:c.392A>T, XM_011514808.4:c.392A>T, XM_011514808.3:c.392A>T, XM_011514808.2:c.392A>T, XM_011514808.1:c.392A>T, NM_145909.3:c.392A>T, NM_145909.2:c.392A>T, NM_145909.1:c.392A>T, XM_011514812.3:c.392A>T, XM_011514812.2:c.392A>T, XM_011514812.1:c.392A>T, XM_011514809.2:c.392A>T, XM_011514809.1:c.392A>T, XM_005249295.2:c.392A>T, XM_005249295.1:c.392A>T, XM_024446522.2:c.-86A>T, XM_024446522.1:c.-86A>T, XM_024446521.2:c.44A>T, XM_024446521.1:c.44A>T, XR_002956296.2:n.1216A>T, XR_002956296.1:n.1143A>T, XR_002956295.2:n.781A>T, XR_002956295.1:n.558A>T, NM_001135215.1:c.392A>T, XM_047419256.1:c.392A>T, NM_001135216.1:c.392A>T, XM_047419254.1:c.392A>T, XM_047419255.1:c.392A>T, NM_001243241.1:c.392A>T, XM_047419253.1:c.392A>T, XM_047419257.1:c.392A>T, NM_001243242.1:c.-86A>T, NR_024164.1:n.316A>T, NM_001243243.1:c.-86A>T, NR_024165.1:n.305A>T, NM_001243244.1:c.-86A>T, XR_007059331.1:n.1205A>T, XR_007059330.1:n.717A>T, XP_005249353.1:p.His131Leu, NP_112161.3:p.His131Leu, XP_011513110.1:p.His131Leu, NP_665916.1:p.His131Leu, XP_011513114.1:p.His131Leu, XP_011513111.1:p.His131Leu, XP_005249352.1:p.His131Leu, XP_024302289.1:p.His15Leu, NP_001128687.1:p.His131Leu, XP_047275212.1:p.His131Leu, NP_001128688.1:p.His131Leu, XP_047275210.1:p.His131Leu, XP_047275211.1:p.His131Leu, NP_001230170.1:p.His131Leu, XP_047275209.1:p.His131Leu, XP_047275213.1:p.His131Leu
            8.

            rs1482387602 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              6:28326828 (GRCh38)
              6:28294605 (GRCh37)
              Canonical SPDI:
              NC_000006.12:28326827:C:G
              Gene:
              ZSCAN31 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_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)
              HGVS:
              NC_000006.12:g.28326828C>G, NC_000006.11:g.28294605C>G, XM_005249296.6:c.559G>C, XM_005249296.5:c.559G>C, XM_005249296.4:c.559G>C, XM_005249296.3:c.559G>C, XM_005249296.2:c.559G>C, XM_005249296.1:c.559G>C, NM_030899.5:c.559G>C, NM_030899.4:c.559G>C, XM_011514808.4:c.559G>C, XM_011514808.3:c.559G>C, XM_011514808.2:c.559G>C, XM_011514808.1:c.559G>C, NM_145909.3:c.559G>C, NM_145909.2:c.559G>C, NM_145909.1:c.559G>C, XM_011514812.3:c.559G>C, XM_011514812.2:c.559G>C, XM_011514812.1:c.559G>C, XM_011514809.2:c.559G>C, XM_011514809.1:c.559G>C, XM_005249295.2:c.559G>C, XM_005249295.1:c.559G>C, XM_024446522.2:c.82G>C, XM_024446522.1:c.82G>C, XM_024446521.2:c.211G>C, XM_024446521.1:c.211G>C, XR_002956296.2:n.1383G>C, XR_002956296.1:n.1310G>C, XR_002956295.2:n.948G>C, XR_002956295.1:n.725G>C, NM_001135215.1:c.559G>C, XM_047419256.1:c.559G>C, NM_001135216.1:c.559G>C, XM_047419254.1:c.559G>C, XM_047419255.1:c.559G>C, NM_001243241.1:c.559G>C, XM_047419253.1:c.559G>C, XM_047419257.1:c.559G>C, NM_001243242.1:c.82G>C, NR_024164.1:n.483G>C, NM_001243243.1:c.82G>C, NR_024165.1:n.472G>C, NM_001243244.1:c.82G>C, XR_007059331.1:n.1372G>C, XR_007059330.1:n.884G>C, XP_005249353.1:p.Glu187Gln, NP_112161.3:p.Glu187Gln, XP_011513110.1:p.Glu187Gln, NP_665916.1:p.Glu187Gln, XP_011513114.1:p.Glu187Gln, XP_011513111.1:p.Glu187Gln, XP_005249352.1:p.Glu187Gln, XP_024302290.1:p.Glu28Gln, XP_024302289.1:p.Glu71Gln, NP_001128687.1:p.Glu187Gln, XP_047275212.1:p.Glu187Gln, NP_001128688.1:p.Glu187Gln, XP_047275210.1:p.Glu187Gln, XP_047275211.1:p.Glu187Gln, NP_001230170.1:p.Glu187Gln, XP_047275209.1:p.Glu187Gln, XP_047275213.1:p.Glu187Gln, NP_001230171.1:p.Glu28Gln, NP_001230172.1:p.Glu28Gln, NP_001230173.1:p.Glu28Gln
              10.

              rs1479320752 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                6:28326682 (GRCh38)
                6:28294459 (GRCh37)
                Canonical SPDI:
                NC_000006.12:28326681:T:G
                Gene:
                ZSCAN31 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                G=0.000008/2 (GnomAD_exomes)
                G=0.000008/2 (TOPMED)
                HGVS:
                NC_000006.12:g.28326682T>G, NC_000006.11:g.28294459T>G, XM_005249296.6:c.705A>C, XM_005249296.5:c.705A>C, XM_005249296.4:c.705A>C, XM_005249296.3:c.705A>C, XM_005249296.2:c.705A>C, XM_005249296.1:c.705A>C, NM_030899.5:c.705A>C, NM_030899.4:c.705A>C, XM_011514808.4:c.705A>C, XM_011514808.3:c.705A>C, XM_011514808.2:c.705A>C, XM_011514808.1:c.705A>C, NM_145909.3:c.705A>C, NM_145909.2:c.705A>C, NM_145909.1:c.705A>C, XM_011514812.3:c.705A>C, XM_011514812.2:c.705A>C, XM_011514812.1:c.705A>C, XM_011514809.2:c.705A>C, XM_011514809.1:c.705A>C, XM_005249295.2:c.705A>C, XM_005249295.1:c.705A>C, XM_024446522.2:c.228A>C, XM_024446522.1:c.228A>C, XM_024446521.2:c.357A>C, XM_024446521.1:c.357A>C, XR_002956296.2:n.1529A>C, XR_002956296.1:n.1456A>C, XR_002956295.2:n.1094A>C, XR_002956295.1:n.871A>C, NM_001135215.1:c.705A>C, XM_047419256.1:c.705A>C, NM_001135216.1:c.705A>C, XM_047419254.1:c.705A>C, XM_047419255.1:c.705A>C, NM_001243241.1:c.705A>C, XM_047419253.1:c.705A>C, XM_047419257.1:c.705A>C, NM_001243242.1:c.228A>C, NR_024164.1:n.629A>C, NM_001243243.1:c.228A>C, NR_024165.1:n.618A>C, NM_001243244.1:c.228A>C, XR_007059331.1:n.1518A>C, XR_007059330.1:n.1030A>C
                12.

                rs1478087116 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  6:28335863 (GRCh38)
                  6:28303640 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:28335862:C:A
                  Gene:
                  ZSCAN31 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,5_prime_UTR_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  13.

                  rs1475232520 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    6:28325742 (GRCh38)
                    6:28293519 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:28325741:G:A,NC_000006.12:28325741:G:C
                    Gene:
                    ZSCAN31 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000006.12:g.28325742G>A, NC_000006.12:g.28325742G>C, NC_000006.11:g.28293519G>A, NC_000006.11:g.28293519G>C, XM_005249296.6:c.*424C>T, XM_005249296.6:c.*424C>G, XM_005249296.5:c.*424C>T, XM_005249296.5:c.*424C>G, XM_005249296.4:c.*424C>T, XM_005249296.4:c.*424C>G, XM_005249296.3:c.*424C>T, XM_005249296.3:c.*424C>G, XM_005249296.2:c.*424C>T, XM_005249296.2:c.*424C>G, XM_005249296.1:c.*424C>T, XM_005249296.1:c.*424C>G, NM_030899.5:c.*424C>T, NM_030899.5:c.*424C>G, NM_030899.4:c.*424C>T, NM_030899.4:c.*424C>G, XM_011514808.4:c.*424C>T, XM_011514808.4:c.*424C>G, XM_011514808.3:c.*424C>T, XM_011514808.3:c.*424C>G, XM_011514808.2:c.*424C>T, XM_011514808.2:c.*424C>G, XM_011514808.1:c.*424C>T, XM_011514808.1:c.*424C>G, NM_145909.3:c.*424C>T, NM_145909.3:c.*424C>G, NM_145909.2:c.*424C>T, NM_145909.2:c.*424C>G, NM_145909.1:c.*424C>T, NM_145909.1:c.*424C>G, XM_011514812.3:c.*424C>T, XM_011514812.3:c.*424C>G, XM_011514812.2:c.*424C>T, XM_011514812.2:c.*424C>G, XM_011514812.1:c.*424C>T, XM_011514812.1:c.*424C>G, XM_011514809.2:c.*424C>T, XM_011514809.2:c.*424C>G, XM_011514809.1:c.*424C>T, XM_011514809.1:c.*424C>G, XM_005249295.2:c.*424C>T, XM_005249295.2:c.*424C>G, XM_005249295.1:c.*424C>T, XM_005249295.1:c.*424C>G, XM_024446522.2:c.*424C>T, XM_024446522.2:c.*424C>G, XM_024446522.1:c.*424C>T, XM_024446522.1:c.*424C>G, XM_024446521.2:c.*424C>T, XM_024446521.2:c.*424C>G, XM_024446521.1:c.*424C>T, XM_024446521.1:c.*424C>G, NM_001135215.1:c.*424C>T, NM_001135215.1:c.*424C>G, XM_047419256.1:c.*424C>T, XM_047419256.1:c.*424C>G, NM_001135216.1:c.*424C>T, NM_001135216.1:c.*424C>G, XM_047419254.1:c.*424C>T, XM_047419254.1:c.*424C>G, XM_047419255.1:c.*424C>T, XM_047419255.1:c.*424C>G, NM_001243241.1:c.*424C>T, NM_001243241.1:c.*424C>G, XM_047419253.1:c.*424C>T, XM_047419253.1:c.*424C>G, XM_047419257.1:c.*424C>T, XM_047419257.1:c.*424C>G, NM_001243242.1:c.*424C>T, NM_001243242.1:c.*424C>G, NR_024164.1:n.1569C>T, NR_024164.1:n.1569C>G, NM_001243243.1:c.*424C>T, NM_001243243.1:c.*424C>G, NR_024165.1:n.1558C>T, NR_024165.1:n.1558C>G, NM_001243244.1:c.*424C>T, NM_001243244.1:c.*424C>G
                    14.

                    rs1474790587 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AGCTCCAAGATTTGC>- [Show Flanks]
                      Chromosome:
                      6:28329442 (GRCh38)
                      6:28297219 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:28329439:GCAGCTCCAAGATTTGC:GC
                      Gene:
                      ZSCAN31 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,inframe_deletion,coding_sequence_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      GC=0./0 (ALFA)
                      -=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000006.12:g.28329442_28329456del, NC_000006.11:g.28297219_28297233del, XM_005249296.6:c.230_244del, XM_005249296.5:c.230_244del, XM_005249296.4:c.230_244del, XM_005249296.3:c.230_244del, XM_005249296.2:c.230_244del, XM_005249296.1:c.230_244del, NM_030899.5:c.230_244del, NM_030899.4:c.230_244del, XM_011514808.4:c.230_244del, XM_011514808.3:c.230_244del, XM_011514808.2:c.230_244del, XM_011514808.1:c.230_244del, NM_145909.3:c.230_244del, NM_145909.2:c.230_244del, NM_145909.1:c.230_244del, XM_011514812.3:c.230_244del, XM_011514812.2:c.230_244del, XM_011514812.1:c.230_244del, XM_011514809.2:c.230_244del, XM_011514809.1:c.230_244del, XM_005249295.2:c.230_244del, XM_005249295.1:c.230_244del, XR_002956296.2:n.1054_1068del, XR_002956296.1:n.981_995del, XR_002956295.2:n.619_633del, XR_002956295.1:n.396_410del, NM_001135215.1:c.230_244del, XM_047419256.1:c.230_244del, NM_001135216.1:c.230_244del, XM_047419254.1:c.230_244del, XM_047419255.1:c.230_244del, NM_001243241.1:c.230_244del, XM_047419253.1:c.230_244del, XM_047419257.1:c.230_244del, XR_007059331.1:n.1043_1057del, XR_007059330.1:n.555_569del, XP_005249353.1:p.Gln77_Leu81del, NP_112161.3:p.Gln77_Leu81del, XP_011513110.1:p.Gln77_Leu81del, NP_665916.1:p.Gln77_Leu81del, XP_011513114.1:p.Gln77_Leu81del, XP_011513111.1:p.Gln77_Leu81del, XP_005249352.1:p.Gln77_Leu81del, NP_001128687.1:p.Gln77_Leu81del, XP_047275212.1:p.Gln77_Leu81del, NP_001128688.1:p.Gln77_Leu81del, XP_047275210.1:p.Gln77_Leu81del, XP_047275211.1:p.Gln77_Leu81del, NP_001230170.1:p.Gln77_Leu81del, XP_047275209.1:p.Gln77_Leu81del, XP_047275213.1:p.Gln77_Leu81del
                      16.

                      rs1472230569 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        CCAGATAGGGTCTTCCTCCACTTTCACAATC>- [Show Flanks]
                        Chromosome:
                        6:28329621 (GRCh38)
                        6:28297398 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:28329618:TCCCAGATAGGGTCTTCCTCCACTTTCACAATC:TC
                        Gene:
                        ZSCAN31 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,frameshift_variant,coding_sequence_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TC=0./0 (ALFA)
                        -=0./0 (GnomAD)
                        -=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000006.12:g.28329621_28329651del, NC_000006.11:g.28297398_28297428del, XM_005249296.6:c.35_65del, XM_005249296.5:c.35_65del, XM_005249296.4:c.35_65del, XM_005249296.3:c.35_65del, XM_005249296.2:c.35_65del, XM_005249296.1:c.35_65del, NM_030899.5:c.35_65del, NM_030899.4:c.35_65del, XM_011514808.4:c.35_65del, XM_011514808.3:c.35_65del, XM_011514808.2:c.35_65del, XM_011514808.1:c.35_65del, NM_145909.3:c.35_65del, NM_145909.2:c.35_65del, NM_145909.1:c.35_65del, XM_011514812.3:c.35_65del, XM_011514812.2:c.35_65del, XM_011514812.1:c.35_65del, XM_011514809.2:c.35_65del, XM_011514809.1:c.35_65del, XM_005249295.2:c.35_65del, XM_005249295.1:c.35_65del, XR_002956296.2:n.859_889del, XR_002956296.1:n.786_816del, XR_002956295.2:n.424_454del, XR_002956295.1:n.201_231del, NM_001135215.1:c.35_65del, XM_047419256.1:c.35_65del, NM_001135216.1:c.35_65del, XM_047419254.1:c.35_65del, XM_047419255.1:c.35_65del, NM_001243241.1:c.35_65del, XM_047419253.1:c.35_65del, XM_047419257.1:c.35_65del, XR_007059331.1:n.848_878del, XR_007059330.1:n.360_390del, XP_005249353.1:p.Ile12fs, NP_112161.3:p.Ile12fs, XP_011513110.1:p.Ile12fs, NP_665916.1:p.Ile12fs, XP_011513114.1:p.Ile12fs, XP_011513111.1:p.Ile12fs, XP_005249352.1:p.Ile12fs, NP_001128687.1:p.Ile12fs, XP_047275212.1:p.Ile12fs, NP_001128688.1:p.Ile12fs, XP_047275210.1:p.Ile12fs, XP_047275211.1:p.Ile12fs, NP_001230170.1:p.Ile12fs, XP_047275209.1:p.Ile12fs, XP_047275213.1:p.Ile12fs
                        17.

                        rs1471318210 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          6:28329604 (GRCh38)
                          6:28297381 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:28329603:A:T
                          Gene:
                          ZSCAN31 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
                          HGVS:
                          NC_000006.12:g.28329604A>T, NC_000006.11:g.28297381A>T, XM_005249296.6:c.80T>A, XM_005249296.5:c.80T>A, XM_005249296.4:c.80T>A, XM_005249296.3:c.80T>A, XM_005249296.2:c.80T>A, XM_005249296.1:c.80T>A, NM_030899.5:c.80T>A, NM_030899.4:c.80T>A, XM_011514808.4:c.80T>A, XM_011514808.3:c.80T>A, XM_011514808.2:c.80T>A, XM_011514808.1:c.80T>A, NM_145909.3:c.80T>A, NM_145909.2:c.80T>A, NM_145909.1:c.80T>A, XM_011514812.3:c.80T>A, XM_011514812.2:c.80T>A, XM_011514812.1:c.80T>A, XM_011514809.2:c.80T>A, XM_011514809.1:c.80T>A, XM_005249295.2:c.80T>A, XM_005249295.1:c.80T>A, XR_002956296.2:n.904T>A, XR_002956296.1:n.831T>A, XR_002956295.2:n.469T>A, XR_002956295.1:n.246T>A, NM_001135215.1:c.80T>A, XM_047419256.1:c.80T>A, NM_001135216.1:c.80T>A, XM_047419254.1:c.80T>A, XM_047419255.1:c.80T>A, NM_001243241.1:c.80T>A, XM_047419253.1:c.80T>A, XM_047419257.1:c.80T>A, XR_007059331.1:n.893T>A, XR_007059330.1:n.405T>A, XP_005249353.1:p.Leu27His, NP_112161.3:p.Leu27His, XP_011513110.1:p.Leu27His, NP_665916.1:p.Leu27His, XP_011513114.1:p.Leu27His, XP_011513111.1:p.Leu27His, XP_005249352.1:p.Leu27His, NP_001128687.1:p.Leu27His, XP_047275212.1:p.Leu27His, NP_001128688.1:p.Leu27His, XP_047275210.1:p.Leu27His, XP_047275211.1:p.Leu27His, NP_001230170.1:p.Leu27His, XP_047275209.1:p.Leu27His, XP_047275213.1:p.Leu27His

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