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Items: 1 to 20 of 224

1.

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

    2.

    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

      3.

      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

        4.

        rs1466809200 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          6:28326351 (GRCh38)
          6:28294128 (GRCh37)
          Canonical SPDI:
          NC_000006.12:28326350:T:A
          Gene:
          ZSCAN31 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000006.12:g.28326351T>A, NC_000006.11:g.28294128T>A, XM_005249296.6:c.1036A>T, XM_005249296.5:c.1036A>T, XM_005249296.4:c.1036A>T, XM_005249296.3:c.1036A>T, XM_005249296.2:c.1036A>T, XM_005249296.1:c.1036A>T, NM_030899.5:c.1036A>T, NM_030899.4:c.1036A>T, XM_011514808.4:c.1036A>T, XM_011514808.3:c.1036A>T, XM_011514808.2:c.1036A>T, XM_011514808.1:c.1036A>T, NM_145909.3:c.1036A>T, NM_145909.2:c.1036A>T, NM_145909.1:c.1036A>T, XM_011514812.3:c.1036A>T, XM_011514812.2:c.1036A>T, XM_011514812.1:c.1036A>T, XM_011514809.2:c.1036A>T, XM_011514809.1:c.1036A>T, XM_005249295.2:c.1036A>T, XM_005249295.1:c.1036A>T, XM_024446522.2:c.559A>T, XM_024446522.1:c.559A>T, XM_024446521.2:c.688A>T, XM_024446521.1:c.688A>T, XR_002956296.2:n.1860A>T, XR_002956296.1:n.1787A>T, XR_002956295.2:n.1425A>T, XR_002956295.1:n.1202A>T, NM_001135215.1:c.1036A>T, XM_047419256.1:c.1036A>T, NM_001135216.1:c.1036A>T, XM_047419254.1:c.1036A>T, XM_047419255.1:c.1036A>T, NM_001243241.1:c.1036A>T, XM_047419253.1:c.1036A>T, XM_047419257.1:c.1036A>T, NM_001243242.1:c.559A>T, NR_024164.1:n.960A>T, NM_001243243.1:c.559A>T, NR_024165.1:n.949A>T, NM_001243244.1:c.559A>T, XR_007059331.1:n.1849A>T, XR_007059330.1:n.1361A>T, XP_005249353.1:p.Thr346Ser, NP_112161.3:p.Thr346Ser, XP_011513110.1:p.Thr346Ser, NP_665916.1:p.Thr346Ser, XP_011513114.1:p.Thr346Ser, XP_011513111.1:p.Thr346Ser, XP_005249352.1:p.Thr346Ser, XP_024302290.1:p.Thr187Ser, XP_024302289.1:p.Thr230Ser, NP_001128687.1:p.Thr346Ser, XP_047275212.1:p.Thr346Ser, NP_001128688.1:p.Thr346Ser, XP_047275210.1:p.Thr346Ser, XP_047275211.1:p.Thr346Ser, NP_001230170.1:p.Thr346Ser, XP_047275209.1:p.Thr346Ser, XP_047275213.1:p.Thr346Ser, NP_001230171.1:p.Thr187Ser, NP_001230172.1:p.Thr187Ser, NP_001230173.1:p.Thr187Ser

          5.

          rs1461444027 has merged into rs776282450 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            T>-,TT [Show Flanks]
            Chromosome:
            6:28326424 (GRCh38)
            6:28294201 (GRCh37)
            Canonical SPDI:
            NC_000006.12:28326423:TTTTT:TTTT,NC_000006.12:28326423:TTTTT:TTTTTT
            Gene:
            ZSCAN31 (Varview)
            Functional Consequence:
            coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTT=0.00013/3 (ALFA)
            -=0./0 (TWINSUK)
            -=0.000099/12 (ExAC)
            -=0.000147/37 (GnomAD_exomes)
            -=0.000259/1 (ALSPAC)
            HGVS:
            NC_000006.12:g.28326428del, NC_000006.12:g.28326428dup, NC_000006.11:g.28294205del, NC_000006.11:g.28294205dup, XM_005249296.6:c.963del, XM_005249296.6:c.963dup, XM_005249296.5:c.963del, XM_005249296.5:c.963dup, XM_005249296.4:c.963del, XM_005249296.4:c.963dup, XM_005249296.3:c.963del, XM_005249296.3:c.963dup, XM_005249296.2:c.963del, XM_005249296.2:c.963dup, XM_005249296.1:c.963del, XM_005249296.1:c.963dup, NM_030899.5:c.963del, NM_030899.5:c.963dup, NM_030899.4:c.963del, NM_030899.4:c.963dup, XM_011514808.4:c.963del, XM_011514808.4:c.963dup, XM_011514808.3:c.963del, XM_011514808.3:c.963dup, XM_011514808.2:c.963del, XM_011514808.2:c.963dup, XM_011514808.1:c.963del, XM_011514808.1:c.963dup, NM_145909.3:c.963del, NM_145909.3:c.963dup, NM_145909.2:c.963del, NM_145909.2:c.963dup, NM_145909.1:c.963del, NM_145909.1:c.963dup, XM_011514812.3:c.963del, XM_011514812.3:c.963dup, XM_011514812.2:c.963del, XM_011514812.2:c.963dup, XM_011514812.1:c.963del, XM_011514812.1:c.963dup, XM_011514809.2:c.963del, XM_011514809.2:c.963dup, XM_011514809.1:c.963del, XM_011514809.1:c.963dup, XM_005249295.2:c.963del, XM_005249295.2:c.963dup, XM_005249295.1:c.963del, XM_005249295.1:c.963dup, XM_024446522.2:c.486del, XM_024446522.2:c.486dup, XM_024446522.1:c.486del, XM_024446522.1:c.486dup, XM_024446521.2:c.615del, XM_024446521.2:c.615dup, XM_024446521.1:c.615del, XM_024446521.1:c.615dup, XR_002956296.2:n.1787del, XR_002956296.2:n.1787dup, XR_002956296.1:n.1714del, XR_002956296.1:n.1714dup, XR_002956295.2:n.1352del, XR_002956295.2:n.1352dup, XR_002956295.1:n.1129del, XR_002956295.1:n.1129dup, NM_001135215.1:c.963del, NM_001135215.1:c.963dup, XM_047419256.1:c.963del, XM_047419256.1:c.963dup, NM_001135216.1:c.963del, NM_001135216.1:c.963dup, XM_047419254.1:c.963del, XM_047419254.1:c.963dup, XM_047419255.1:c.963del, XM_047419255.1:c.963dup, NM_001243241.1:c.963del, NM_001243241.1:c.963dup, XM_047419253.1:c.963del, XM_047419253.1:c.963dup, XM_047419257.1:c.963del, XM_047419257.1:c.963dup, NM_001243242.1:c.486del, NM_001243242.1:c.486dup, NR_024164.1:n.887del, NR_024164.1:n.887dup, NM_001243243.1:c.486del, NM_001243243.1:c.486dup, NR_024165.1:n.876del, NR_024165.1:n.876dup, NM_001243244.1:c.486del, NM_001243244.1:c.486dup, XR_007059331.1:n.1776del, XR_007059331.1:n.1776dup, XR_007059330.1:n.1288del, XR_007059330.1:n.1288dup, XP_005249353.1:p.Lys321fs, XP_005249353.1:p.Pro322fs, NP_112161.3:p.Lys321fs, NP_112161.3:p.Pro322fs, XP_011513110.1:p.Lys321fs, XP_011513110.1:p.Pro322fs, NP_665916.1:p.Lys321fs, NP_665916.1:p.Pro322fs, XP_011513114.1:p.Lys321fs, XP_011513114.1:p.Pro322fs, XP_011513111.1:p.Lys321fs, XP_011513111.1:p.Pro322fs, XP_005249352.1:p.Lys321fs, XP_005249352.1:p.Pro322fs, XP_024302290.1:p.Lys162fs, XP_024302290.1:p.Pro163fs, XP_024302289.1:p.Lys205fs, XP_024302289.1:p.Pro206fs, NP_001128687.1:p.Lys321fs, NP_001128687.1:p.Pro322fs, XP_047275212.1:p.Lys321fs, XP_047275212.1:p.Pro322fs, NP_001128688.1:p.Lys321fs, NP_001128688.1:p.Pro322fs, XP_047275210.1:p.Lys321fs, XP_047275210.1:p.Pro322fs, XP_047275211.1:p.Lys321fs, XP_047275211.1:p.Pro322fs, NP_001230170.1:p.Lys321fs, NP_001230170.1:p.Pro322fs, XP_047275209.1:p.Lys321fs, XP_047275209.1:p.Pro322fs, XP_047275213.1:p.Lys321fs, XP_047275213.1:p.Pro322fs, NP_001230171.1:p.Lys162fs, NP_001230171.1:p.Pro163fs, NP_001230172.1:p.Lys162fs, NP_001230172.1:p.Pro163fs, NP_001230173.1:p.Lys162fs, NP_001230173.1:p.Pro163fs

            6.

            rs1460119486 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              6:28326461 (GRCh38)
              6:28294238 (GRCh37)
              Canonical SPDI:
              NC_000006.12:28326460:C:T
              Gene:
              ZSCAN31 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000006.12:g.28326461C>T, NC_000006.11:g.28294238C>T, XM_005249296.6:c.926G>A, XM_005249296.5:c.926G>A, XM_005249296.4:c.926G>A, XM_005249296.3:c.926G>A, XM_005249296.2:c.926G>A, XM_005249296.1:c.926G>A, NM_030899.5:c.926G>A, NM_030899.4:c.926G>A, XM_011514808.4:c.926G>A, XM_011514808.3:c.926G>A, XM_011514808.2:c.926G>A, XM_011514808.1:c.926G>A, NM_145909.3:c.926G>A, NM_145909.2:c.926G>A, NM_145909.1:c.926G>A, XM_011514812.3:c.926G>A, XM_011514812.2:c.926G>A, XM_011514812.1:c.926G>A, XM_011514809.2:c.926G>A, XM_011514809.1:c.926G>A, XM_005249295.2:c.926G>A, XM_005249295.1:c.926G>A, XM_024446522.2:c.449G>A, XM_024446522.1:c.449G>A, XM_024446521.2:c.578G>A, XM_024446521.1:c.578G>A, XR_002956296.2:n.1750G>A, XR_002956296.1:n.1677G>A, XR_002956295.2:n.1315G>A, XR_002956295.1:n.1092G>A, NM_001135215.1:c.926G>A, XM_047419256.1:c.926G>A, NM_001135216.1:c.926G>A, XM_047419254.1:c.926G>A, XM_047419255.1:c.926G>A, NM_001243241.1:c.926G>A, XM_047419253.1:c.926G>A, XM_047419257.1:c.926G>A, NM_001243242.1:c.449G>A, NR_024164.1:n.850G>A, NM_001243243.1:c.449G>A, NR_024165.1:n.839G>A, NM_001243244.1:c.449G>A, XR_007059331.1:n.1739G>A, XR_007059330.1:n.1251G>A, XP_005249353.1:p.Gly309Asp, NP_112161.3:p.Gly309Asp, XP_011513110.1:p.Gly309Asp, NP_665916.1:p.Gly309Asp, XP_011513114.1:p.Gly309Asp, XP_011513111.1:p.Gly309Asp, XP_005249352.1:p.Gly309Asp, XP_024302290.1:p.Gly150Asp, XP_024302289.1:p.Gly193Asp, NP_001128687.1:p.Gly309Asp, XP_047275212.1:p.Gly309Asp, NP_001128688.1:p.Gly309Asp, XP_047275210.1:p.Gly309Asp, XP_047275211.1:p.Gly309Asp, NP_001230170.1:p.Gly309Asp, XP_047275209.1:p.Gly309Asp, XP_047275213.1:p.Gly309Asp, NP_001230171.1:p.Gly150Asp, NP_001230172.1:p.Gly150Asp, NP_001230173.1:p.Gly150Asp

              7.

              rs1458879837 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                6:28326383 (GRCh38)
                6:28294160 (GRCh37)
                Canonical SPDI:
                NC_000006.12:28326382:C:A
                Gene:
                ZSCAN31 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0.0001/1 (ALFA)
                HGVS:
                NC_000006.12:g.28326383C>A, NC_000006.11:g.28294160C>A, XM_005249296.6:c.1004G>T, XM_005249296.5:c.1004G>T, XM_005249296.4:c.1004G>T, XM_005249296.3:c.1004G>T, XM_005249296.2:c.1004G>T, XM_005249296.1:c.1004G>T, NM_030899.5:c.1004G>T, NM_030899.4:c.1004G>T, XM_011514808.4:c.1004G>T, XM_011514808.3:c.1004G>T, XM_011514808.2:c.1004G>T, XM_011514808.1:c.1004G>T, NM_145909.3:c.1004G>T, NM_145909.2:c.1004G>T, NM_145909.1:c.1004G>T, XM_011514812.3:c.1004G>T, XM_011514812.2:c.1004G>T, XM_011514812.1:c.1004G>T, XM_011514809.2:c.1004G>T, XM_011514809.1:c.1004G>T, XM_005249295.2:c.1004G>T, XM_005249295.1:c.1004G>T, XM_024446522.2:c.527G>T, XM_024446522.1:c.527G>T, XM_024446521.2:c.656G>T, XM_024446521.1:c.656G>T, XR_002956296.2:n.1828G>T, XR_002956296.1:n.1755G>T, XR_002956295.2:n.1393G>T, XR_002956295.1:n.1170G>T, NM_001135215.1:c.1004G>T, XM_047419256.1:c.1004G>T, NM_001135216.1:c.1004G>T, XM_047419254.1:c.1004G>T, XM_047419255.1:c.1004G>T, NM_001243241.1:c.1004G>T, XM_047419253.1:c.1004G>T, XM_047419257.1:c.1004G>T, NM_001243242.1:c.527G>T, NR_024164.1:n.928G>T, NM_001243243.1:c.527G>T, NR_024165.1:n.917G>T, NM_001243244.1:c.527G>T, XR_007059331.1:n.1817G>T, XR_007059330.1:n.1329G>T, XP_005249353.1:p.Ser335Ile, NP_112161.3:p.Ser335Ile, XP_011513110.1:p.Ser335Ile, NP_665916.1:p.Ser335Ile, XP_011513114.1:p.Ser335Ile, XP_011513111.1:p.Ser335Ile, XP_005249352.1:p.Ser335Ile, XP_024302290.1:p.Ser176Ile, XP_024302289.1:p.Ser219Ile, NP_001128687.1:p.Ser335Ile, XP_047275212.1:p.Ser335Ile, NP_001128688.1:p.Ser335Ile, XP_047275210.1:p.Ser335Ile, XP_047275211.1:p.Ser335Ile, NP_001230170.1:p.Ser335Ile, XP_047275209.1:p.Ser335Ile, XP_047275213.1:p.Ser335Ile, NP_001230171.1:p.Ser176Ile, NP_001230172.1:p.Ser176Ile, NP_001230173.1:p.Ser176Ile

                8.

                rs1452326868 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  6:28326282 (GRCh38)
                  6:28294059 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:28326281:G:A
                  Gene:
                  ZSCAN31 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000006.12:g.28326282G>A, NC_000006.11:g.28294059G>A, XM_005249296.6:c.1105C>T, XM_005249296.5:c.1105C>T, XM_005249296.4:c.1105C>T, XM_005249296.3:c.1105C>T, XM_005249296.2:c.1105C>T, XM_005249296.1:c.1105C>T, NM_030899.5:c.1105C>T, NM_030899.4:c.1105C>T, XM_011514808.4:c.1105C>T, XM_011514808.3:c.1105C>T, XM_011514808.2:c.1105C>T, XM_011514808.1:c.1105C>T, NM_145909.3:c.1105C>T, NM_145909.2:c.1105C>T, NM_145909.1:c.1105C>T, XM_011514812.3:c.1105C>T, XM_011514812.2:c.1105C>T, XM_011514812.1:c.1105C>T, XM_011514809.2:c.1105C>T, XM_011514809.1:c.1105C>T, XM_005249295.2:c.1105C>T, XM_005249295.1:c.1105C>T, XM_024446522.2:c.628C>T, XM_024446522.1:c.628C>T, XM_024446521.2:c.757C>T, XM_024446521.1:c.757C>T, XR_002956296.2:n.1929C>T, XR_002956296.1:n.1856C>T, XR_002956295.2:n.1494C>T, XR_002956295.1:n.1271C>T, NM_001135215.1:c.1105C>T, XM_047419256.1:c.1105C>T, NM_001135216.1:c.1105C>T, XM_047419254.1:c.1105C>T, XM_047419255.1:c.1105C>T, NM_001243241.1:c.1105C>T, XM_047419253.1:c.1105C>T, XM_047419257.1:c.1105C>T, NM_001243242.1:c.628C>T, NR_024164.1:n.1029C>T, NM_001243243.1:c.628C>T, NR_024165.1:n.1018C>T, NM_001243244.1:c.628C>T, XR_007059331.1:n.1918C>T, XR_007059330.1:n.1430C>T, XP_005249353.1:p.His369Tyr, NP_112161.3:p.His369Tyr, XP_011513110.1:p.His369Tyr, NP_665916.1:p.His369Tyr, XP_011513114.1:p.His369Tyr, XP_011513111.1:p.His369Tyr, XP_005249352.1:p.His369Tyr, XP_024302290.1:p.His210Tyr, XP_024302289.1:p.His253Tyr, NP_001128687.1:p.His369Tyr, XP_047275212.1:p.His369Tyr, NP_001128688.1:p.His369Tyr, XP_047275210.1:p.His369Tyr, XP_047275211.1:p.His369Tyr, NP_001230170.1:p.His369Tyr, XP_047275209.1:p.His369Tyr, XP_047275213.1:p.His369Tyr, NP_001230171.1:p.His210Tyr, NP_001230172.1:p.His210Tyr, NP_001230173.1:p.His210Tyr

                  9.

                  rs1449597440 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    6:28326541 (GRCh38)
                    6:28294318 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:28326540:C:T
                    Gene:
                    ZSCAN31 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000006.12:g.28326541C>T, NC_000006.11:g.28294318C>T, XM_005249296.6:c.846G>A, XM_005249296.5:c.846G>A, XM_005249296.4:c.846G>A, XM_005249296.3:c.846G>A, XM_005249296.2:c.846G>A, XM_005249296.1:c.846G>A, NM_030899.5:c.846G>A, NM_030899.4:c.846G>A, XM_011514808.4:c.846G>A, XM_011514808.3:c.846G>A, XM_011514808.2:c.846G>A, XM_011514808.1:c.846G>A, NM_145909.3:c.846G>A, NM_145909.2:c.846G>A, NM_145909.1:c.846G>A, XM_011514812.3:c.846G>A, XM_011514812.2:c.846G>A, XM_011514812.1:c.846G>A, XM_011514809.2:c.846G>A, XM_011514809.1:c.846G>A, XM_005249295.2:c.846G>A, XM_005249295.1:c.846G>A, XM_024446522.2:c.369G>A, XM_024446522.1:c.369G>A, XM_024446521.2:c.498G>A, XM_024446521.1:c.498G>A, XR_002956296.2:n.1670G>A, XR_002956296.1:n.1597G>A, XR_002956295.2:n.1235G>A, XR_002956295.1:n.1012G>A, NM_001135215.1:c.846G>A, XM_047419256.1:c.846G>A, NM_001135216.1:c.846G>A, XM_047419254.1:c.846G>A, XM_047419255.1:c.846G>A, NM_001243241.1:c.846G>A, XM_047419253.1:c.846G>A, XM_047419257.1:c.846G>A, NM_001243242.1:c.369G>A, NR_024164.1:n.770G>A, NM_001243243.1:c.369G>A, NR_024165.1:n.759G>A, NM_001243244.1:c.369G>A, XR_007059331.1:n.1659G>A, XR_007059330.1:n.1171G>A

                    10.

                    rs1442919303 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      6:28326579 (GRCh38)
                      6:28294356 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:28326578:C:T
                      Gene:
                      ZSCAN31 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      T=0.000283/5 (TOMMO)
                      HGVS:
                      NC_000006.12:g.28326579C>T, NC_000006.11:g.28294356C>T, XM_005249296.6:c.808G>A, XM_005249296.5:c.808G>A, XM_005249296.4:c.808G>A, XM_005249296.3:c.808G>A, XM_005249296.2:c.808G>A, XM_005249296.1:c.808G>A, NM_030899.5:c.808G>A, NM_030899.4:c.808G>A, XM_011514808.4:c.808G>A, XM_011514808.3:c.808G>A, XM_011514808.2:c.808G>A, XM_011514808.1:c.808G>A, NM_145909.3:c.808G>A, NM_145909.2:c.808G>A, NM_145909.1:c.808G>A, XM_011514812.3:c.808G>A, XM_011514812.2:c.808G>A, XM_011514812.1:c.808G>A, XM_011514809.2:c.808G>A, XM_011514809.1:c.808G>A, XM_005249295.2:c.808G>A, XM_005249295.1:c.808G>A, XM_024446522.2:c.331G>A, XM_024446522.1:c.331G>A, XM_024446521.2:c.460G>A, XM_024446521.1:c.460G>A, XR_002956296.2:n.1632G>A, XR_002956296.1:n.1559G>A, XR_002956295.2:n.1197G>A, XR_002956295.1:n.974G>A, NM_001135215.1:c.808G>A, XM_047419256.1:c.808G>A, NM_001135216.1:c.808G>A, XM_047419254.1:c.808G>A, XM_047419255.1:c.808G>A, NM_001243241.1:c.808G>A, XM_047419253.1:c.808G>A, XM_047419257.1:c.808G>A, NM_001243242.1:c.331G>A, NR_024164.1:n.732G>A, NM_001243243.1:c.331G>A, NR_024165.1:n.721G>A, NM_001243244.1:c.331G>A, XR_007059331.1:n.1621G>A, XR_007059330.1:n.1133G>A, XP_005249353.1:p.Glu270Lys, NP_112161.3:p.Glu270Lys, XP_011513110.1:p.Glu270Lys, NP_665916.1:p.Glu270Lys, XP_011513114.1:p.Glu270Lys, XP_011513111.1:p.Glu270Lys, XP_005249352.1:p.Glu270Lys, XP_024302290.1:p.Glu111Lys, XP_024302289.1:p.Glu154Lys, NP_001128687.1:p.Glu270Lys, XP_047275212.1:p.Glu270Lys, NP_001128688.1:p.Glu270Lys, XP_047275210.1:p.Glu270Lys, XP_047275211.1:p.Glu270Lys, NP_001230170.1:p.Glu270Lys, XP_047275209.1:p.Glu270Lys, XP_047275213.1:p.Glu270Lys, NP_001230171.1:p.Glu111Lys, NP_001230172.1:p.Glu111Lys, NP_001230173.1:p.Glu111Lys

                      11.

                      rs1438382909 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        6:28326513 (GRCh38)
                        6:28294290 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:28326512: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=0.000045/2 (ALFA)
                        G=0.000007/1 (GnomAD)
                        G=0.000008/2 (GnomAD_exomes)
                        G=0.000011/3 (TOPMED)
                        HGVS:
                        NC_000006.12:g.28326513C>G, NC_000006.11:g.28294290C>G, XM_005249296.6:c.874G>C, XM_005249296.5:c.874G>C, XM_005249296.4:c.874G>C, XM_005249296.3:c.874G>C, XM_005249296.2:c.874G>C, XM_005249296.1:c.874G>C, NM_030899.5:c.874G>C, NM_030899.4:c.874G>C, XM_011514808.4:c.874G>C, XM_011514808.3:c.874G>C, XM_011514808.2:c.874G>C, XM_011514808.1:c.874G>C, NM_145909.3:c.874G>C, NM_145909.2:c.874G>C, NM_145909.1:c.874G>C, XM_011514812.3:c.874G>C, XM_011514812.2:c.874G>C, XM_011514812.1:c.874G>C, XM_011514809.2:c.874G>C, XM_011514809.1:c.874G>C, XM_005249295.2:c.874G>C, XM_005249295.1:c.874G>C, XM_024446522.2:c.397G>C, XM_024446522.1:c.397G>C, XM_024446521.2:c.526G>C, XM_024446521.1:c.526G>C, XR_002956296.2:n.1698G>C, XR_002956296.1:n.1625G>C, XR_002956295.2:n.1263G>C, XR_002956295.1:n.1040G>C, NM_001135215.1:c.874G>C, XM_047419256.1:c.874G>C, NM_001135216.1:c.874G>C, XM_047419254.1:c.874G>C, XM_047419255.1:c.874G>C, NM_001243241.1:c.874G>C, XM_047419253.1:c.874G>C, XM_047419257.1:c.874G>C, NM_001243242.1:c.397G>C, NR_024164.1:n.798G>C, NM_001243243.1:c.397G>C, NR_024165.1:n.787G>C, NM_001243244.1:c.397G>C, XR_007059331.1:n.1687G>C, XR_007059330.1:n.1199G>C, XP_005249353.1:p.Glu292Gln, NP_112161.3:p.Glu292Gln, XP_011513110.1:p.Glu292Gln, NP_665916.1:p.Glu292Gln, XP_011513114.1:p.Glu292Gln, XP_011513111.1:p.Glu292Gln, XP_005249352.1:p.Glu292Gln, XP_024302290.1:p.Glu133Gln, XP_024302289.1:p.Glu176Gln, NP_001128687.1:p.Glu292Gln, XP_047275212.1:p.Glu292Gln, NP_001128688.1:p.Glu292Gln, XP_047275210.1:p.Glu292Gln, XP_047275211.1:p.Glu292Gln, NP_001230170.1:p.Glu292Gln, XP_047275209.1:p.Glu292Gln, XP_047275213.1:p.Glu292Gln, NP_001230171.1:p.Glu133Gln, NP_001230172.1:p.Glu133Gln, NP_001230173.1:p.Glu133Gln

                        12.

                        rs1432839818 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          6:28326220 (GRCh38)
                          6:28293997 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:28326219:A:C
                          Gene:
                          ZSCAN31 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,non_coding_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000006.12:g.28326220A>C, NC_000006.11:g.28293997A>C, XM_005249296.6:c.1167T>G, XM_005249296.5:c.1167T>G, XM_005249296.4:c.1167T>G, XM_005249296.3:c.1167T>G, XM_005249296.2:c.1167T>G, XM_005249296.1:c.1167T>G, NM_030899.5:c.1167T>G, NM_030899.4:c.1167T>G, XM_011514808.4:c.1167T>G, XM_011514808.3:c.1167T>G, XM_011514808.2:c.1167T>G, XM_011514808.1:c.1167T>G, NM_145909.3:c.1167T>G, NM_145909.2:c.1167T>G, NM_145909.1:c.1167T>G, XM_011514812.3:c.1167T>G, XM_011514812.2:c.1167T>G, XM_011514812.1:c.1167T>G, XM_011514809.2:c.1167T>G, XM_011514809.1:c.1167T>G, XM_005249295.2:c.1167T>G, XM_005249295.1:c.1167T>G, XM_024446522.2:c.690T>G, XM_024446522.1:c.690T>G, XM_024446521.2:c.819T>G, XM_024446521.1:c.819T>G, XR_002956296.2:n.1991T>G, XR_002956296.1:n.1918T>G, XR_002956295.2:n.1556T>G, XR_002956295.1:n.1333T>G, NM_001135215.1:c.1167T>G, XM_047419256.1:c.1167T>G, NM_001135216.1:c.1167T>G, XM_047419254.1:c.1167T>G, XM_047419255.1:c.1167T>G, NM_001243241.1:c.1167T>G, XM_047419253.1:c.1167T>G, XM_047419257.1:c.1167T>G, NM_001243242.1:c.690T>G, NR_024164.1:n.1091T>G, NM_001243243.1:c.690T>G, NR_024165.1:n.1080T>G, NM_001243244.1:c.690T>G, XR_007059331.1:n.1980T>G, XR_007059330.1:n.1492T>G, XP_005249353.1:p.Ser389Arg, NP_112161.3:p.Ser389Arg, XP_011513110.1:p.Ser389Arg, NP_665916.1:p.Ser389Arg, XP_011513114.1:p.Ser389Arg, XP_011513111.1:p.Ser389Arg, XP_005249352.1:p.Ser389Arg, XP_024302290.1:p.Ser230Arg, XP_024302289.1:p.Ser273Arg, NP_001128687.1:p.Ser389Arg, XP_047275212.1:p.Ser389Arg, NP_001128688.1:p.Ser389Arg, XP_047275210.1:p.Ser389Arg, XP_047275211.1:p.Ser389Arg, NP_001230170.1:p.Ser389Arg, XP_047275209.1:p.Ser389Arg, XP_047275213.1:p.Ser389Arg, NP_001230171.1:p.Ser230Arg, NP_001230172.1:p.Ser230Arg, NP_001230173.1:p.Ser230Arg

                          13.

                          rs1426415828 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            6:28326285 (GRCh38)
                            6:28294062 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:28326284:G:A
                            Gene:
                            ZSCAN31 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,coding_sequence_variant,stop_gained
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000006.12:g.28326285G>A, NC_000006.11:g.28294062G>A, XM_005249296.6:c.1102C>T, XM_005249296.5:c.1102C>T, XM_005249296.4:c.1102C>T, XM_005249296.3:c.1102C>T, XM_005249296.2:c.1102C>T, XM_005249296.1:c.1102C>T, NM_030899.5:c.1102C>T, NM_030899.4:c.1102C>T, XM_011514808.4:c.1102C>T, XM_011514808.3:c.1102C>T, XM_011514808.2:c.1102C>T, XM_011514808.1:c.1102C>T, NM_145909.3:c.1102C>T, NM_145909.2:c.1102C>T, NM_145909.1:c.1102C>T, XM_011514812.3:c.1102C>T, XM_011514812.2:c.1102C>T, XM_011514812.1:c.1102C>T, XM_011514809.2:c.1102C>T, XM_011514809.1:c.1102C>T, XM_005249295.2:c.1102C>T, XM_005249295.1:c.1102C>T, XM_024446522.2:c.625C>T, XM_024446522.1:c.625C>T, XM_024446521.2:c.754C>T, XM_024446521.1:c.754C>T, XR_002956296.2:n.1926C>T, XR_002956296.1:n.1853C>T, XR_002956295.2:n.1491C>T, XR_002956295.1:n.1268C>T, NM_001135215.1:c.1102C>T, XM_047419256.1:c.1102C>T, NM_001135216.1:c.1102C>T, XM_047419254.1:c.1102C>T, XM_047419255.1:c.1102C>T, NM_001243241.1:c.1102C>T, XM_047419253.1:c.1102C>T, XM_047419257.1:c.1102C>T, NM_001243242.1:c.625C>T, NR_024164.1:n.1026C>T, NM_001243243.1:c.625C>T, NR_024165.1:n.1015C>T, NM_001243244.1:c.625C>T, XR_007059331.1:n.1915C>T, XR_007059330.1:n.1427C>T, XP_005249353.1:p.Gln368Ter, NP_112161.3:p.Gln368Ter, XP_011513110.1:p.Gln368Ter, NP_665916.1:p.Gln368Ter, XP_011513114.1:p.Gln368Ter, XP_011513111.1:p.Gln368Ter, XP_005249352.1:p.Gln368Ter, XP_024302290.1:p.Gln209Ter, XP_024302289.1:p.Gln252Ter, NP_001128687.1:p.Gln368Ter, XP_047275212.1:p.Gln368Ter, NP_001128688.1:p.Gln368Ter, XP_047275210.1:p.Gln368Ter, XP_047275211.1:p.Gln368Ter, NP_001230170.1:p.Gln368Ter, XP_047275209.1:p.Gln368Ter, XP_047275213.1:p.Gln368Ter, NP_001230171.1:p.Gln209Ter, NP_001230172.1:p.Gln209Ter, NP_001230173.1:p.Gln209Ter

                            14.

                            rs1425543361 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              6:28326365 (GRCh38)
                              6:28294142 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:28326364:T:C
                              Gene:
                              ZSCAN31 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000006.12:g.28326365T>C, NC_000006.11:g.28294142T>C, XM_005249296.6:c.1022A>G, XM_005249296.5:c.1022A>G, XM_005249296.4:c.1022A>G, XM_005249296.3:c.1022A>G, XM_005249296.2:c.1022A>G, XM_005249296.1:c.1022A>G, NM_030899.5:c.1022A>G, NM_030899.4:c.1022A>G, XM_011514808.4:c.1022A>G, XM_011514808.3:c.1022A>G, XM_011514808.2:c.1022A>G, XM_011514808.1:c.1022A>G, NM_145909.3:c.1022A>G, NM_145909.2:c.1022A>G, NM_145909.1:c.1022A>G, XM_011514812.3:c.1022A>G, XM_011514812.2:c.1022A>G, XM_011514812.1:c.1022A>G, XM_011514809.2:c.1022A>G, XM_011514809.1:c.1022A>G, XM_005249295.2:c.1022A>G, XM_005249295.1:c.1022A>G, XM_024446522.2:c.545A>G, XM_024446522.1:c.545A>G, XM_024446521.2:c.674A>G, XM_024446521.1:c.674A>G, XR_002956296.2:n.1846A>G, XR_002956296.1:n.1773A>G, XR_002956295.2:n.1411A>G, XR_002956295.1:n.1188A>G, NM_001135215.1:c.1022A>G, XM_047419256.1:c.1022A>G, NM_001135216.1:c.1022A>G, XM_047419254.1:c.1022A>G, XM_047419255.1:c.1022A>G, NM_001243241.1:c.1022A>G, XM_047419253.1:c.1022A>G, XM_047419257.1:c.1022A>G, NM_001243242.1:c.545A>G, NR_024164.1:n.946A>G, NM_001243243.1:c.545A>G, NR_024165.1:n.935A>G, NM_001243244.1:c.545A>G, XR_007059331.1:n.1835A>G, XR_007059330.1:n.1347A>G, XP_005249353.1:p.His341Arg, NP_112161.3:p.His341Arg, XP_011513110.1:p.His341Arg, NP_665916.1:p.His341Arg, XP_011513114.1:p.His341Arg, XP_011513111.1:p.His341Arg, XP_005249352.1:p.His341Arg, XP_024302290.1:p.His182Arg, XP_024302289.1:p.His225Arg, NP_001128687.1:p.His341Arg, XP_047275212.1:p.His341Arg, NP_001128688.1:p.His341Arg, XP_047275210.1:p.His341Arg, XP_047275211.1:p.His341Arg, NP_001230170.1:p.His341Arg, XP_047275209.1:p.His341Arg, XP_047275213.1:p.His341Arg, NP_001230171.1:p.His182Arg, NP_001230172.1:p.His182Arg, NP_001230173.1:p.His182Arg

                              15.

                              rs1423889401 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C,G [Show Flanks]
                                Chromosome:
                                6:28326190 (GRCh38)
                                6:28293967 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:28326189:T:C,NC_000006.12:28326189:T:G
                                Gene:
                                ZSCAN31 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                C=0.000004/1 (GnomAD_exomes)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000006.12:g.28326190T>C, NC_000006.12:g.28326190T>G, NC_000006.11:g.28293967T>C, NC_000006.11:g.28293967T>G, XM_005249296.6:c.1197A>G, XM_005249296.6:c.1197A>C, XM_005249296.5:c.1197A>G, XM_005249296.5:c.1197A>C, XM_005249296.4:c.1197A>G, XM_005249296.4:c.1197A>C, XM_005249296.3:c.1197A>G, XM_005249296.3:c.1197A>C, XM_005249296.2:c.1197A>G, XM_005249296.2:c.1197A>C, XM_005249296.1:c.1197A>G, XM_005249296.1:c.1197A>C, NM_030899.5:c.1197A>G, NM_030899.5:c.1197A>C, NM_030899.4:c.1197A>G, NM_030899.4:c.1197A>C, XM_011514808.4:c.1197A>G, XM_011514808.4:c.1197A>C, XM_011514808.3:c.1197A>G, XM_011514808.3:c.1197A>C, XM_011514808.2:c.1197A>G, XM_011514808.2:c.1197A>C, XM_011514808.1:c.1197A>G, XM_011514808.1:c.1197A>C, NM_145909.3:c.1197A>G, NM_145909.3:c.1197A>C, NM_145909.2:c.1197A>G, NM_145909.2:c.1197A>C, NM_145909.1:c.1197A>G, NM_145909.1:c.1197A>C, XM_011514812.3:c.1197A>G, XM_011514812.3:c.1197A>C, XM_011514812.2:c.1197A>G, XM_011514812.2:c.1197A>C, XM_011514812.1:c.1197A>G, XM_011514812.1:c.1197A>C, XM_011514809.2:c.1197A>G, XM_011514809.2:c.1197A>C, XM_011514809.1:c.1197A>G, XM_011514809.1:c.1197A>C, XM_005249295.2:c.1197A>G, XM_005249295.2:c.1197A>C, XM_005249295.1:c.1197A>G, XM_005249295.1:c.1197A>C, XM_024446522.2:c.720A>G, XM_024446522.2:c.720A>C, XM_024446522.1:c.720A>G, XM_024446522.1:c.720A>C, XM_024446521.2:c.849A>G, XM_024446521.2:c.849A>C, XM_024446521.1:c.849A>G, XM_024446521.1:c.849A>C, XR_002956296.2:n.2021A>G, XR_002956296.2:n.2021A>C, XR_002956296.1:n.1948A>G, XR_002956296.1:n.1948A>C, XR_002956295.2:n.1586A>G, XR_002956295.2:n.1586A>C, XR_002956295.1:n.1363A>G, XR_002956295.1:n.1363A>C, NM_001135215.1:c.1197A>G, NM_001135215.1:c.1197A>C, XM_047419256.1:c.1197A>G, XM_047419256.1:c.1197A>C, NM_001135216.1:c.1197A>G, NM_001135216.1:c.1197A>C, XM_047419254.1:c.1197A>G, XM_047419254.1:c.1197A>C, XM_047419255.1:c.1197A>G, XM_047419255.1:c.1197A>C, NM_001243241.1:c.1197A>G, NM_001243241.1:c.1197A>C, XM_047419253.1:c.1197A>G, XM_047419253.1:c.1197A>C, XM_047419257.1:c.1197A>G, XM_047419257.1:c.1197A>C, NM_001243242.1:c.720A>G, NM_001243242.1:c.720A>C, NR_024164.1:n.1121A>G, NR_024164.1:n.1121A>C, NM_001243243.1:c.720A>G, NM_001243243.1:c.720A>C, NR_024165.1:n.1110A>G, NR_024165.1:n.1110A>C, NM_001243244.1:c.720A>G, NM_001243244.1:c.720A>C, XR_007059331.1:n.2010A>G, XR_007059331.1:n.2010A>C, XR_007059330.1:n.1522A>G, XR_007059330.1:n.1522A>C, XP_005249353.1:p.Lys399Asn, NP_112161.3:p.Lys399Asn, XP_011513110.1:p.Lys399Asn, NP_665916.1:p.Lys399Asn, XP_011513114.1:p.Lys399Asn, XP_011513111.1:p.Lys399Asn, XP_005249352.1:p.Lys399Asn, XP_024302290.1:p.Lys240Asn, XP_024302289.1:p.Lys283Asn, NP_001128687.1:p.Lys399Asn, XP_047275212.1:p.Lys399Asn, NP_001128688.1:p.Lys399Asn, XP_047275210.1:p.Lys399Asn, XP_047275211.1:p.Lys399Asn, NP_001230170.1:p.Lys399Asn, XP_047275209.1:p.Lys399Asn, XP_047275213.1:p.Lys399Asn, NP_001230171.1:p.Lys240Asn, NP_001230172.1:p.Lys240Asn, NP_001230173.1:p.Lys240Asn

                                16.

                                rs1418479285 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  6:28326367 (GRCh38)
                                  6:28294144 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:28326366:C:A
                                  Gene:
                                  ZSCAN31 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000006.12:g.28326367C>A, NC_000006.11:g.28294144C>A, XM_005249296.6:c.1020G>T, XM_005249296.5:c.1020G>T, XM_005249296.4:c.1020G>T, XM_005249296.3:c.1020G>T, XM_005249296.2:c.1020G>T, XM_005249296.1:c.1020G>T, NM_030899.5:c.1020G>T, NM_030899.4:c.1020G>T, XM_011514808.4:c.1020G>T, XM_011514808.3:c.1020G>T, XM_011514808.2:c.1020G>T, XM_011514808.1:c.1020G>T, NM_145909.3:c.1020G>T, NM_145909.2:c.1020G>T, NM_145909.1:c.1020G>T, XM_011514812.3:c.1020G>T, XM_011514812.2:c.1020G>T, XM_011514812.1:c.1020G>T, XM_011514809.2:c.1020G>T, XM_011514809.1:c.1020G>T, XM_005249295.2:c.1020G>T, XM_005249295.1:c.1020G>T, XM_024446522.2:c.543G>T, XM_024446522.1:c.543G>T, XM_024446521.2:c.672G>T, XM_024446521.1:c.672G>T, XR_002956296.2:n.1844G>T, XR_002956296.1:n.1771G>T, XR_002956295.2:n.1409G>T, XR_002956295.1:n.1186G>T, NM_001135215.1:c.1020G>T, XM_047419256.1:c.1020G>T, NM_001135216.1:c.1020G>T, XM_047419254.1:c.1020G>T, XM_047419255.1:c.1020G>T, NM_001243241.1:c.1020G>T, XM_047419253.1:c.1020G>T, XM_047419257.1:c.1020G>T, NM_001243242.1:c.543G>T, NR_024164.1:n.944G>T, NM_001243243.1:c.543G>T, NR_024165.1:n.933G>T, NM_001243244.1:c.543G>T, XR_007059331.1:n.1833G>T, XR_007059330.1:n.1345G>T, XP_005249353.1:p.Gln340His, NP_112161.3:p.Gln340His, XP_011513110.1:p.Gln340His, NP_665916.1:p.Gln340His, XP_011513114.1:p.Gln340His, XP_011513111.1:p.Gln340His, XP_005249352.1:p.Gln340His, XP_024302290.1:p.Gln181His, XP_024302289.1:p.Gln224His, NP_001128687.1:p.Gln340His, XP_047275212.1:p.Gln340His, NP_001128688.1:p.Gln340His, XP_047275210.1:p.Gln340His, XP_047275211.1:p.Gln340His, NP_001230170.1:p.Gln340His, XP_047275209.1:p.Gln340His, XP_047275213.1:p.Gln340His, NP_001230171.1:p.Gln181His, NP_001230172.1:p.Gln181His, NP_001230173.1:p.Gln181His

                                  17.

                                  rs1411535619 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    6:28326805 (GRCh38)
                                    6:28294582 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:28326804:G:A
                                    Gene:
                                    ZSCAN31 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    NC_000006.12:g.28326805G>A, NC_000006.11:g.28294582G>A, XM_005249296.6:c.582C>T, XM_005249296.5:c.582C>T, XM_005249296.4:c.582C>T, XM_005249296.3:c.582C>T, XM_005249296.2:c.582C>T, XM_005249296.1:c.582C>T, NM_030899.5:c.582C>T, NM_030899.4:c.582C>T, XM_011514808.4:c.582C>T, XM_011514808.3:c.582C>T, XM_011514808.2:c.582C>T, XM_011514808.1:c.582C>T, NM_145909.3:c.582C>T, NM_145909.2:c.582C>T, NM_145909.1:c.582C>T, XM_011514812.3:c.582C>T, XM_011514812.2:c.582C>T, XM_011514812.1:c.582C>T, XM_011514809.2:c.582C>T, XM_011514809.1:c.582C>T, XM_005249295.2:c.582C>T, XM_005249295.1:c.582C>T, XM_024446522.2:c.105C>T, XM_024446522.1:c.105C>T, XM_024446521.2:c.234C>T, XM_024446521.1:c.234C>T, XR_002956296.2:n.1406C>T, XR_002956296.1:n.1333C>T, XR_002956295.2:n.971C>T, XR_002956295.1:n.748C>T, NM_001135215.1:c.582C>T, XM_047419256.1:c.582C>T, NM_001135216.1:c.582C>T, XM_047419254.1:c.582C>T, XM_047419255.1:c.582C>T, NM_001243241.1:c.582C>T, XM_047419253.1:c.582C>T, XM_047419257.1:c.582C>T, NM_001243242.1:c.105C>T, NR_024164.1:n.506C>T, NM_001243243.1:c.105C>T, NR_024165.1:n.495C>T, NM_001243244.1:c.105C>T, XR_007059331.1:n.1395C>T, XR_007059330.1:n.907C>T

                                    18.

                                    rs1410923502 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      6:28326471 (GRCh38)
                                      6:28294248 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:28326470:C:T
                                      Gene:
                                      ZSCAN31 (Varview)
                                      Functional Consequence:
                                      missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000006.12:g.28326471C>T, NC_000006.11:g.28294248C>T, XM_005249296.6:c.916G>A, XM_005249296.5:c.916G>A, XM_005249296.4:c.916G>A, XM_005249296.3:c.916G>A, XM_005249296.2:c.916G>A, XM_005249296.1:c.916G>A, NM_030899.5:c.916G>A, NM_030899.4:c.916G>A, XM_011514808.4:c.916G>A, XM_011514808.3:c.916G>A, XM_011514808.2:c.916G>A, XM_011514808.1:c.916G>A, NM_145909.3:c.916G>A, NM_145909.2:c.916G>A, NM_145909.1:c.916G>A, XM_011514812.3:c.916G>A, XM_011514812.2:c.916G>A, XM_011514812.1:c.916G>A, XM_011514809.2:c.916G>A, XM_011514809.1:c.916G>A, XM_005249295.2:c.916G>A, XM_005249295.1:c.916G>A, XM_024446522.2:c.439G>A, XM_024446522.1:c.439G>A, XM_024446521.2:c.568G>A, XM_024446521.1:c.568G>A, XR_002956296.2:n.1740G>A, XR_002956296.1:n.1667G>A, XR_002956295.2:n.1305G>A, XR_002956295.1:n.1082G>A, NM_001135215.1:c.916G>A, XM_047419256.1:c.916G>A, NM_001135216.1:c.916G>A, XM_047419254.1:c.916G>A, XM_047419255.1:c.916G>A, NM_001243241.1:c.916G>A, XM_047419253.1:c.916G>A, XM_047419257.1:c.916G>A, NM_001243242.1:c.439G>A, NR_024164.1:n.840G>A, NM_001243243.1:c.439G>A, NR_024165.1:n.829G>A, NM_001243244.1:c.439G>A, XR_007059331.1:n.1729G>A, XR_007059330.1:n.1241G>A, XP_005249353.1:p.Ala306Thr, NP_112161.3:p.Ala306Thr, XP_011513110.1:p.Ala306Thr, NP_665916.1:p.Ala306Thr, XP_011513114.1:p.Ala306Thr, XP_011513111.1:p.Ala306Thr, XP_005249352.1:p.Ala306Thr, XP_024302290.1:p.Ala147Thr, XP_024302289.1:p.Ala190Thr, NP_001128687.1:p.Ala306Thr, XP_047275212.1:p.Ala306Thr, NP_001128688.1:p.Ala306Thr, XP_047275210.1:p.Ala306Thr, XP_047275211.1:p.Ala306Thr, NP_001230170.1:p.Ala306Thr, XP_047275209.1:p.Ala306Thr, XP_047275213.1:p.Ala306Thr, NP_001230171.1:p.Ala147Thr, NP_001230172.1:p.Ala147Thr, NP_001230173.1:p.Ala147Thr

                                      19.

                                      rs1406694457 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        6:28326687 (GRCh38)
                                        6:28294464 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:28326686:T:C
                                        Gene:
                                        ZSCAN31 (Varview)
                                        Functional Consequence:
                                        missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000006.12:g.28326687T>C, NC_000006.11:g.28294464T>C, XM_005249296.6:c.700A>G, XM_005249296.5:c.700A>G, XM_005249296.4:c.700A>G, XM_005249296.3:c.700A>G, XM_005249296.2:c.700A>G, XM_005249296.1:c.700A>G, NM_030899.5:c.700A>G, NM_030899.4:c.700A>G, XM_011514808.4:c.700A>G, XM_011514808.3:c.700A>G, XM_011514808.2:c.700A>G, XM_011514808.1:c.700A>G, NM_145909.3:c.700A>G, NM_145909.2:c.700A>G, NM_145909.1:c.700A>G, XM_011514812.3:c.700A>G, XM_011514812.2:c.700A>G, XM_011514812.1:c.700A>G, XM_011514809.2:c.700A>G, XM_011514809.1:c.700A>G, XM_005249295.2:c.700A>G, XM_005249295.1:c.700A>G, XM_024446522.2:c.223A>G, XM_024446522.1:c.223A>G, XM_024446521.2:c.352A>G, XM_024446521.1:c.352A>G, XR_002956296.2:n.1524A>G, XR_002956296.1:n.1451A>G, XR_002956295.2:n.1089A>G, XR_002956295.1:n.866A>G, NM_001135215.1:c.700A>G, XM_047419256.1:c.700A>G, NM_001135216.1:c.700A>G, XM_047419254.1:c.700A>G, XM_047419255.1:c.700A>G, NM_001243241.1:c.700A>G, XM_047419253.1:c.700A>G, XM_047419257.1:c.700A>G, NM_001243242.1:c.223A>G, NR_024164.1:n.624A>G, NM_001243243.1:c.223A>G, NR_024165.1:n.613A>G, NM_001243244.1:c.223A>G, XR_007059331.1:n.1513A>G, XR_007059330.1:n.1025A>G, XP_005249353.1:p.Thr234Ala, NP_112161.3:p.Thr234Ala, XP_011513110.1:p.Thr234Ala, NP_665916.1:p.Thr234Ala, XP_011513114.1:p.Thr234Ala, XP_011513111.1:p.Thr234Ala, XP_005249352.1:p.Thr234Ala, XP_024302290.1:p.Thr75Ala, XP_024302289.1:p.Thr118Ala, NP_001128687.1:p.Thr234Ala, XP_047275212.1:p.Thr234Ala, NP_001128688.1:p.Thr234Ala, XP_047275210.1:p.Thr234Ala, XP_047275211.1:p.Thr234Ala, NP_001230170.1:p.Thr234Ala, XP_047275209.1:p.Thr234Ala, XP_047275213.1:p.Thr234Ala, NP_001230171.1:p.Thr75Ala, NP_001230172.1:p.Thr75Ala, NP_001230173.1:p.Thr75Ala

                                        20.

                                        rs1404400836 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          6:28327414 (GRCh38)
                                          6:28295191 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:28327413:T:G
                                          Gene:
                                          ZSCAN31 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0.000047/1 (ALFA)
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000006.12:g.28327414T>G, NC_000006.11:g.28295191T>G, XM_005249296.6:c.501A>C, XM_005249296.5:c.501A>C, XM_005249296.4:c.501A>C, XM_005249296.3:c.501A>C, XM_005249296.2:c.501A>C, XM_005249296.1:c.501A>C, NM_030899.5:c.501A>C, NM_030899.4:c.501A>C, XM_011514808.4:c.501A>C, XM_011514808.3:c.501A>C, XM_011514808.2:c.501A>C, XM_011514808.1:c.501A>C, NM_145909.3:c.501A>C, NM_145909.2:c.501A>C, NM_145909.1:c.501A>C, XM_011514812.3:c.501A>C, XM_011514812.2:c.501A>C, XM_011514812.1:c.501A>C, XM_011514809.2:c.501A>C, XM_011514809.1:c.501A>C, XM_005249295.2:c.501A>C, XM_005249295.1:c.501A>C, XM_024446522.2:c.24A>C, XM_024446522.1:c.24A>C, XM_024446521.2:c.153A>C, XM_024446521.1:c.153A>C, XR_002956296.2:n.1325A>C, XR_002956296.1:n.1252A>C, XR_002956295.2:n.890A>C, XR_002956295.1:n.667A>C, NM_001135215.1:c.501A>C, XM_047419256.1:c.501A>C, NM_001135216.1:c.501A>C, XM_047419254.1:c.501A>C, XM_047419255.1:c.501A>C, NM_001243241.1:c.501A>C, XM_047419253.1:c.501A>C, XM_047419257.1:c.501A>C, NM_001243242.1:c.24A>C, NR_024164.1:n.425A>C, NM_001243243.1:c.24A>C, NR_024165.1:n.414A>C, NM_001243244.1:c.24A>C, XR_007059331.1:n.1314A>C, XR_007059330.1:n.826A>C, XP_005249353.1:p.Glu167Asp, NP_112161.3:p.Glu167Asp, XP_011513110.1:p.Glu167Asp, NP_665916.1:p.Glu167Asp, XP_011513114.1:p.Glu167Asp, XP_011513111.1:p.Glu167Asp, XP_005249352.1:p.Glu167Asp, XP_024302290.1:p.Glu8Asp, XP_024302289.1:p.Glu51Asp, NP_001128687.1:p.Glu167Asp, XP_047275212.1:p.Glu167Asp, NP_001128688.1:p.Glu167Asp, XP_047275210.1:p.Glu167Asp, XP_047275211.1:p.Glu167Asp, NP_001230170.1:p.Glu167Asp, XP_047275209.1:p.Glu167Asp, XP_047275213.1:p.Glu167Asp, NP_001230171.1:p.Glu8Asp, NP_001230172.1:p.Glu8Asp, NP_001230173.1:p.Glu8Asp

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