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Items: 1 to 20 of 502

1.

rs1490008205 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    10:43557129 (GRCh38)
    10:44052577 (GRCh37)
    Canonical SPDI:
    NC_000010.11:43557128:C:T
    Gene:
    ZNF239 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000010.11:g.43557129C>T, NC_000010.10:g.44052577C>T, XM_011540232.4:c.1383G>A, XM_011540232.3:c.1383G>A, XM_011540232.2:c.1383G>A, XM_011540232.1:c.1383G>A, XM_006718003.4:c.951G>A, XM_006718003.3:c.951G>A, XM_006718003.2:c.951G>A, XM_006718003.1:c.951G>A, NM_005674.3:c.951G>A, NM_005674.2:c.951G>A, XM_011540236.3:c.1077G>A, XM_011540236.2:c.1077G>A, XM_011540236.1:c.1077G>A, XM_011540235.3:c.1077G>A, XM_011540235.2:c.1077G>A, XM_011540235.1:c.1077G>A, XM_006718001.3:c.1077G>A, XM_006718001.2:c.1077G>A, XM_006718001.1:c.1077G>A, XM_011540234.3:c.1077G>A, XM_011540234.2:c.1077G>A, XM_011540234.1:c.1077G>A, XM_011540238.3:c.951G>A, XM_011540238.2:c.951G>A, XM_011540238.1:c.951G>A, NM_001324353.2:c.1290G>A, NM_001324353.1:c.1290G>A, XM_017016740.2:c.1077G>A, XM_017016740.1:c.1077G>A, NM_001324349.2:c.951G>A, NM_001324349.1:c.951G>A, NM_001324351.2:c.951G>A, NM_001324351.1:c.951G>A, NM_001324352.2:c.1077G>A, NM_001324352.1:c.1077G>A, NM_001099282.2:c.951G>A, NM_001099282.1:c.951G>A, NM_001099284.2:c.951G>A, NM_001099284.1:c.951G>A, NM_001324350.2:c.951G>A, NM_001324350.1:c.951G>A, NM_001324348.2:c.951G>A, NM_001324348.1:c.951G>A, NM_001324347.2:c.951G>A, NM_001324347.1:c.951G>A, NM_001099283.2:c.951G>A, NM_001099283.1:c.951G>A, XM_047425807.1:c.1383G>A, XM_047425808.1:c.1212G>A

    2.

    rs1488654538 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      10:43557200 (GRCh38)
      10:44052648 (GRCh37)
      Canonical SPDI:
      NC_000010.11:43557199:C:G
      Gene:
      ZNF239 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000008/2 (TOPMED)
      G=0.000014/2 (GnomAD)
      HGVS:
      NC_000010.11:g.43557200C>G, NC_000010.10:g.44052648C>G, XM_011540232.4:c.1312G>C, XM_011540232.3:c.1312G>C, XM_011540232.2:c.1312G>C, XM_011540232.1:c.1312G>C, XM_006718003.4:c.880G>C, XM_006718003.3:c.880G>C, XM_006718003.2:c.880G>C, XM_006718003.1:c.880G>C, NM_005674.3:c.880G>C, NM_005674.2:c.880G>C, XM_011540236.3:c.1006G>C, XM_011540236.2:c.1006G>C, XM_011540236.1:c.1006G>C, XM_011540235.3:c.1006G>C, XM_011540235.2:c.1006G>C, XM_011540235.1:c.1006G>C, XM_006718001.3:c.1006G>C, XM_006718001.2:c.1006G>C, XM_006718001.1:c.1006G>C, XM_011540234.3:c.1006G>C, XM_011540234.2:c.1006G>C, XM_011540234.1:c.1006G>C, XM_011540238.3:c.880G>C, XM_011540238.2:c.880G>C, XM_011540238.1:c.880G>C, NM_001324353.2:c.1219G>C, NM_001324353.1:c.1219G>C, XM_017016740.2:c.1006G>C, XM_017016740.1:c.1006G>C, NM_001324349.2:c.880G>C, NM_001324349.1:c.880G>C, NM_001324351.2:c.880G>C, NM_001324351.1:c.880G>C, NM_001324352.2:c.1006G>C, NM_001324352.1:c.1006G>C, NM_001099282.2:c.880G>C, NM_001099282.1:c.880G>C, NM_001099284.2:c.880G>C, NM_001099284.1:c.880G>C, NM_001324350.2:c.880G>C, NM_001324350.1:c.880G>C, NM_001324348.2:c.880G>C, NM_001324348.1:c.880G>C, NM_001324347.2:c.880G>C, NM_001324347.1:c.880G>C, NM_001099283.2:c.880G>C, NM_001099283.1:c.880G>C, XM_047425807.1:c.1312G>C, XM_047425808.1:c.1141G>C, XP_011538534.1:p.Asp438His, XP_006718066.1:p.Asp294His, NP_005665.2:p.Asp294His, XP_011538538.1:p.Asp336His, XP_011538537.1:p.Asp336His, XP_006718064.1:p.Asp336His, XP_011538536.1:p.Asp336His, XP_011538540.1:p.Asp294His, NP_001311282.1:p.Asp407His, XP_016872229.1:p.Asp336His, NP_001311278.1:p.Asp294His, NP_001311280.1:p.Asp294His, NP_001311281.1:p.Asp336His, NP_001092752.1:p.Asp294His, NP_001092754.1:p.Asp294His, NP_001311279.1:p.Asp294His, NP_001311277.1:p.Asp294His, NP_001311276.1:p.Asp294His, NP_001092753.1:p.Asp294His, XP_047281763.1:p.Asp438His, XP_047281764.1:p.Asp381His

      3.

      rs1478849829 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        10:43557177 (GRCh38)
        10:44052625 (GRCh37)
        Canonical SPDI:
        NC_000010.11:43557176:A:G
        Gene:
        ZNF239 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        HGVS:
        NC_000010.11:g.43557177A>G, NC_000010.10:g.44052625A>G, XM_011540232.4:c.1335T>C, XM_011540232.3:c.1335T>C, XM_011540232.2:c.1335T>C, XM_011540232.1:c.1335T>C, XM_006718003.4:c.903T>C, XM_006718003.3:c.903T>C, XM_006718003.2:c.903T>C, XM_006718003.1:c.903T>C, NM_005674.3:c.903T>C, NM_005674.2:c.903T>C, XM_011540236.3:c.1029T>C, XM_011540236.2:c.1029T>C, XM_011540236.1:c.1029T>C, XM_011540235.3:c.1029T>C, XM_011540235.2:c.1029T>C, XM_011540235.1:c.1029T>C, XM_006718001.3:c.1029T>C, XM_006718001.2:c.1029T>C, XM_006718001.1:c.1029T>C, XM_011540234.3:c.1029T>C, XM_011540234.2:c.1029T>C, XM_011540234.1:c.1029T>C, XM_011540238.3:c.903T>C, XM_011540238.2:c.903T>C, XM_011540238.1:c.903T>C, NM_001324353.2:c.1242T>C, NM_001324353.1:c.1242T>C, XM_017016740.2:c.1029T>C, XM_017016740.1:c.1029T>C, NM_001324349.2:c.903T>C, NM_001324349.1:c.903T>C, NM_001324351.2:c.903T>C, NM_001324351.1:c.903T>C, NM_001324352.2:c.1029T>C, NM_001324352.1:c.1029T>C, NM_001099282.2:c.903T>C, NM_001099282.1:c.903T>C, NM_001099284.2:c.903T>C, NM_001099284.1:c.903T>C, NM_001324350.2:c.903T>C, NM_001324350.1:c.903T>C, NM_001324348.2:c.903T>C, NM_001324348.1:c.903T>C, NM_001324347.2:c.903T>C, NM_001324347.1:c.903T>C, NM_001099283.2:c.903T>C, NM_001099283.1:c.903T>C, XM_047425807.1:c.1335T>C, XM_047425808.1:c.1164T>C

        4.

        rs1475111614 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,T [Show Flanks]
          Chromosome:
          10:43558057 (GRCh38)
          10:44053505 (GRCh37)
          Canonical SPDI:
          NC_000010.11:43558056:C:A,NC_000010.11:43558056:C:T
          Gene:
          ZNF239 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000010.11:g.43558057C>A, NC_000010.11:g.43558057C>T, NC_000010.10:g.44053505C>A, NC_000010.10:g.44053505C>T, XM_011540232.4:c.455G>T, XM_011540232.4:c.455G>A, XM_011540232.3:c.455G>T, XM_011540232.3:c.455G>A, XM_011540232.2:c.455G>T, XM_011540232.2:c.455G>A, XM_011540232.1:c.455G>T, XM_011540232.1:c.455G>A, XM_006718003.4:c.23G>T, XM_006718003.4:c.23G>A, XM_006718003.3:c.23G>T, XM_006718003.3:c.23G>A, XM_006718003.2:c.23G>T, XM_006718003.2:c.23G>A, XM_006718003.1:c.23G>T, XM_006718003.1:c.23G>A, NM_005674.3:c.23G>T, NM_005674.3:c.23G>A, NM_005674.2:c.23G>T, NM_005674.2:c.23G>A, XM_011540236.3:c.149G>T, XM_011540236.3:c.149G>A, XM_011540236.2:c.149G>T, XM_011540236.2:c.149G>A, XM_011540236.1:c.149G>T, XM_011540236.1:c.149G>A, XM_011540235.3:c.149G>T, XM_011540235.3:c.149G>A, XM_011540235.2:c.149G>T, XM_011540235.2:c.149G>A, XM_011540235.1:c.149G>T, XM_011540235.1:c.149G>A, XM_006718001.3:c.149G>T, XM_006718001.3:c.149G>A, XM_006718001.2:c.149G>T, XM_006718001.2:c.149G>A, XM_006718001.1:c.149G>T, XM_006718001.1:c.149G>A, XM_011540234.3:c.149G>T, XM_011540234.3:c.149G>A, XM_011540234.2:c.149G>T, XM_011540234.2:c.149G>A, XM_011540234.1:c.149G>T, XM_011540234.1:c.149G>A, XM_011540238.3:c.23G>T, XM_011540238.3:c.23G>A, XM_011540238.2:c.23G>T, XM_011540238.2:c.23G>A, XM_011540238.1:c.23G>T, XM_011540238.1:c.23G>A, NM_001324353.2:c.362G>T, NM_001324353.2:c.362G>A, NM_001324353.1:c.362G>T, NM_001324353.1:c.362G>A, XM_017016740.2:c.149G>T, XM_017016740.2:c.149G>A, XM_017016740.1:c.149G>T, XM_017016740.1:c.149G>A, NM_001324349.2:c.23G>T, NM_001324349.2:c.23G>A, NM_001324349.1:c.23G>T, NM_001324349.1:c.23G>A, NM_001324351.2:c.23G>T, NM_001324351.2:c.23G>A, NM_001324351.1:c.23G>T, NM_001324351.1:c.23G>A, NM_001324352.2:c.149G>T, NM_001324352.2:c.149G>A, NM_001324352.1:c.149G>T, NM_001324352.1:c.149G>A, NM_001099282.2:c.23G>T, NM_001099282.2:c.23G>A, NM_001099282.1:c.23G>T, NM_001099282.1:c.23G>A, NM_001099284.2:c.23G>T, NM_001099284.2:c.23G>A, NM_001099284.1:c.23G>T, NM_001099284.1:c.23G>A, NM_001324350.2:c.23G>T, NM_001324350.2:c.23G>A, NM_001324350.1:c.23G>T, NM_001324350.1:c.23G>A, NM_001324348.2:c.23G>T, NM_001324348.2:c.23G>A, NM_001324348.1:c.23G>T, NM_001324348.1:c.23G>A, NM_001324347.2:c.23G>T, NM_001324347.2:c.23G>A, NM_001324347.1:c.23G>T, NM_001324347.1:c.23G>A, NM_001099283.2:c.23G>T, NM_001099283.2:c.23G>A, NM_001099283.1:c.23G>T, NM_001099283.1:c.23G>A, XM_047425807.1:c.455G>T, XM_047425807.1:c.455G>A, XM_047425808.1:c.284G>T, XM_047425808.1:c.284G>A, XP_011538534.1:p.Ser152Ile, XP_011538534.1:p.Ser152Asn, XP_006718066.1:p.Ser8Ile, XP_006718066.1:p.Ser8Asn, NP_005665.2:p.Ser8Ile, NP_005665.2:p.Ser8Asn, XP_011538538.1:p.Ser50Ile, XP_011538538.1:p.Ser50Asn, XP_011538537.1:p.Ser50Ile, XP_011538537.1:p.Ser50Asn, XP_006718064.1:p.Ser50Ile, XP_006718064.1:p.Ser50Asn, XP_011538536.1:p.Ser50Ile, XP_011538536.1:p.Ser50Asn, XP_011538540.1:p.Ser8Ile, XP_011538540.1:p.Ser8Asn, NP_001311282.1:p.Ser121Ile, NP_001311282.1:p.Ser121Asn, XP_016872229.1:p.Ser50Ile, XP_016872229.1:p.Ser50Asn, NP_001311278.1:p.Ser8Ile, NP_001311278.1:p.Ser8Asn, NP_001311280.1:p.Ser8Ile, NP_001311280.1:p.Ser8Asn, NP_001311281.1:p.Ser50Ile, NP_001311281.1:p.Ser50Asn, NP_001092752.1:p.Ser8Ile, NP_001092752.1:p.Ser8Asn, NP_001092754.1:p.Ser8Ile, NP_001092754.1:p.Ser8Asn, NP_001311279.1:p.Ser8Ile, NP_001311279.1:p.Ser8Asn, NP_001311277.1:p.Ser8Ile, NP_001311277.1:p.Ser8Asn, NP_001311276.1:p.Ser8Ile, NP_001311276.1:p.Ser8Asn, NP_001092753.1:p.Ser8Ile, NP_001092753.1:p.Ser8Asn, XP_047281763.1:p.Ser152Ile, XP_047281763.1:p.Ser152Asn, XP_047281764.1:p.Ser95Ile, XP_047281764.1:p.Ser95Asn

          5.

          rs1474234030 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            10:43557075 (GRCh38)
            10:44052523 (GRCh37)
            Canonical SPDI:
            NC_000010.11:43557074:G:A
            Gene:
            ZNF239 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000008/2 (TOPMED)
            HGVS:
            NC_000010.11:g.43557075G>A, NC_000010.10:g.44052523G>A, XM_011540232.4:c.1437C>T, XM_011540232.3:c.1437C>T, XM_011540232.2:c.1437C>T, XM_011540232.1:c.1437C>T, XM_006718003.4:c.1005C>T, XM_006718003.3:c.1005C>T, XM_006718003.2:c.1005C>T, XM_006718003.1:c.1005C>T, NM_005674.3:c.1005C>T, NM_005674.2:c.1005C>T, XM_011540236.3:c.1131C>T, XM_011540236.2:c.1131C>T, XM_011540236.1:c.1131C>T, XM_011540235.3:c.1131C>T, XM_011540235.2:c.1131C>T, XM_011540235.1:c.1131C>T, XM_006718001.3:c.1131C>T, XM_006718001.2:c.1131C>T, XM_006718001.1:c.1131C>T, XM_011540234.3:c.1131C>T, XM_011540234.2:c.1131C>T, XM_011540234.1:c.1131C>T, XM_011540238.3:c.1005C>T, XM_011540238.2:c.1005C>T, XM_011540238.1:c.1005C>T, NM_001324353.2:c.1344C>T, NM_001324353.1:c.1344C>T, XM_017016740.2:c.1131C>T, XM_017016740.1:c.1131C>T, NM_001324349.2:c.1005C>T, NM_001324349.1:c.1005C>T, NM_001324351.2:c.1005C>T, NM_001324351.1:c.1005C>T, NM_001324352.2:c.1131C>T, NM_001324352.1:c.1131C>T, NM_001099282.2:c.1005C>T, NM_001099282.1:c.1005C>T, NM_001099284.2:c.1005C>T, NM_001099284.1:c.1005C>T, NM_001324350.2:c.1005C>T, NM_001324350.1:c.1005C>T, NM_001324348.2:c.1005C>T, NM_001324348.1:c.1005C>T, NM_001324347.2:c.1005C>T, NM_001324347.1:c.1005C>T, NM_001099283.2:c.1005C>T, NM_001099283.1:c.1005C>T, XM_047425807.1:c.1437C>T, XM_047425808.1:c.1266C>T

            6.

            rs1472656226 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              10:43556801 (GRCh38)
              10:44052249 (GRCh37)
              Canonical SPDI:
              NC_000010.11:43556800:C:T
              Gene:
              ZNF239 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000010.11:g.43556801C>T, NC_000010.10:g.44052249C>T, XM_011540232.4:c.1711G>A, XM_011540232.3:c.1711G>A, XM_011540232.2:c.1711G>A, XM_011540232.1:c.1711G>A, XM_006718003.4:c.1279G>A, XM_006718003.3:c.1279G>A, XM_006718003.2:c.1279G>A, XM_006718003.1:c.1279G>A, NM_005674.3:c.1279G>A, NM_005674.2:c.1279G>A, XM_011540236.3:c.1405G>A, XM_011540236.2:c.1405G>A, XM_011540236.1:c.1405G>A, XM_011540235.3:c.1405G>A, XM_011540235.2:c.1405G>A, XM_011540235.1:c.1405G>A, XM_006718001.3:c.1405G>A, XM_006718001.2:c.1405G>A, XM_006718001.1:c.1405G>A, XM_011540234.3:c.1405G>A, XM_011540234.2:c.1405G>A, XM_011540234.1:c.1405G>A, XM_011540238.3:c.1279G>A, XM_011540238.2:c.1279G>A, XM_011540238.1:c.1279G>A, NM_001324353.2:c.1618G>A, NM_001324353.1:c.1618G>A, XM_017016740.2:c.1405G>A, XM_017016740.1:c.1405G>A, NM_001324349.2:c.1279G>A, NM_001324349.1:c.1279G>A, NM_001324351.2:c.1279G>A, NM_001324351.1:c.1279G>A, NM_001324352.2:c.1405G>A, NM_001324352.1:c.1405G>A, NM_001099282.2:c.1279G>A, NM_001099282.1:c.1279G>A, NM_001099284.2:c.1279G>A, NM_001099284.1:c.1279G>A, NM_001324350.2:c.1279G>A, NM_001324350.1:c.1279G>A, NM_001324348.2:c.1279G>A, NM_001324348.1:c.1279G>A, NM_001324347.2:c.1279G>A, NM_001324347.1:c.1279G>A, NM_001099283.2:c.1279G>A, NM_001099283.1:c.1279G>A, XM_047425807.1:c.1711G>A, XM_047425808.1:c.1540G>A, XP_011538534.1:p.Gly571Arg, XP_006718066.1:p.Gly427Arg, NP_005665.2:p.Gly427Arg, XP_011538538.1:p.Gly469Arg, XP_011538537.1:p.Gly469Arg, XP_006718064.1:p.Gly469Arg, XP_011538536.1:p.Gly469Arg, XP_011538540.1:p.Gly427Arg, NP_001311282.1:p.Gly540Arg, XP_016872229.1:p.Gly469Arg, NP_001311278.1:p.Gly427Arg, NP_001311280.1:p.Gly427Arg, NP_001311281.1:p.Gly469Arg, NP_001092752.1:p.Gly427Arg, NP_001092754.1:p.Gly427Arg, NP_001311279.1:p.Gly427Arg, NP_001311277.1:p.Gly427Arg, NP_001311276.1:p.Gly427Arg, NP_001092753.1:p.Gly427Arg, XP_047281763.1:p.Gly571Arg, XP_047281764.1:p.Gly514Arg

              7.

              rs1470378837 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                10:43558159 (GRCh38)
                10:44053607 (GRCh37)
                Canonical SPDI:
                NC_000010.11:43558158:T:C
                Gene:
                ZNF239 (Varview)
                Functional Consequence:
                coding_sequence_variant,5_prime_UTR_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000007/1 (GnomAD)
                HGVS:
                NC_000010.11:g.43558159T>C, NC_000010.10:g.44053607T>C, XM_011540232.4:c.353A>G, XM_011540232.3:c.353A>G, XM_011540232.2:c.353A>G, XM_011540232.1:c.353A>G, XM_006718003.4:c.-80A>G, XM_006718003.3:c.-80A>G, XM_006718003.2:c.-80A>G, XM_006718003.1:c.-80A>G, NM_005674.3:c.-80A>G, NM_005674.2:c.-80A>G, XM_011540236.3:c.47A>G, XM_011540236.2:c.47A>G, XM_011540236.1:c.47A>G, XM_011540235.3:c.47A>G, XM_011540235.2:c.47A>G, XM_011540235.1:c.47A>G, XM_006718001.3:c.47A>G, XM_006718001.2:c.47A>G, XM_006718001.1:c.47A>G, XM_011540234.3:c.47A>G, XM_011540234.2:c.47A>G, XM_011540234.1:c.47A>G, XM_011540238.3:c.-80A>G, XM_011540238.2:c.-80A>G, XM_011540238.1:c.-80A>G, NM_001324353.2:c.260A>G, NM_001324353.1:c.260A>G, XM_017016740.2:c.47A>G, XM_017016740.1:c.47A>G, NM_001324349.2:c.-80A>G, NM_001324349.1:c.-80A>G, NM_001324351.2:c.-80A>G, NM_001324351.1:c.-80A>G, NM_001324352.2:c.47A>G, NM_001324352.1:c.47A>G, NM_001099282.2:c.-80A>G, NM_001099282.1:c.-80A>G, NM_001099284.2:c.-80A>G, NM_001099284.1:c.-80A>G, NM_001324350.2:c.-80A>G, NM_001324350.1:c.-80A>G, NM_001324348.2:c.-80A>G, NM_001324348.1:c.-80A>G, NM_001324347.2:c.-80A>G, NM_001324347.1:c.-80A>G, NM_001099283.2:c.-80A>G, NM_001099283.1:c.-80A>G, XM_047425807.1:c.353A>G, XM_047425808.1:c.182A>G, XP_011538534.1:p.Glu118Gly, XP_011538538.1:p.Glu16Gly, XP_011538537.1:p.Glu16Gly, XP_006718064.1:p.Glu16Gly, XP_011538536.1:p.Glu16Gly, NP_001311282.1:p.Glu87Gly, XP_016872229.1:p.Glu16Gly, NP_001311281.1:p.Glu16Gly, XP_047281763.1:p.Glu118Gly, XP_047281764.1:p.Glu61Gly

                8.

                rs1470043874 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  10:43556964 (GRCh38)
                  10:44052412 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:43556963:C:T
                  Gene:
                  ZNF239 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000010.11:g.43556964C>T, NC_000010.10:g.44052412C>T, XM_011540232.4:c.1548G>A, XM_011540232.3:c.1548G>A, XM_011540232.2:c.1548G>A, XM_011540232.1:c.1548G>A, XM_006718003.4:c.1116G>A, XM_006718003.3:c.1116G>A, XM_006718003.2:c.1116G>A, XM_006718003.1:c.1116G>A, NM_005674.3:c.1116G>A, NM_005674.2:c.1116G>A, XM_011540236.3:c.1242G>A, XM_011540236.2:c.1242G>A, XM_011540236.1:c.1242G>A, XM_011540235.3:c.1242G>A, XM_011540235.2:c.1242G>A, XM_011540235.1:c.1242G>A, XM_006718001.3:c.1242G>A, XM_006718001.2:c.1242G>A, XM_006718001.1:c.1242G>A, XM_011540234.3:c.1242G>A, XM_011540234.2:c.1242G>A, XM_011540234.1:c.1242G>A, XM_011540238.3:c.1116G>A, XM_011540238.2:c.1116G>A, XM_011540238.1:c.1116G>A, NM_001324353.2:c.1455G>A, NM_001324353.1:c.1455G>A, XM_017016740.2:c.1242G>A, XM_017016740.1:c.1242G>A, NM_001324349.2:c.1116G>A, NM_001324349.1:c.1116G>A, NM_001324351.2:c.1116G>A, NM_001324351.1:c.1116G>A, NM_001324352.2:c.1242G>A, NM_001324352.1:c.1242G>A, NM_001099282.2:c.1116G>A, NM_001099282.1:c.1116G>A, NM_001099284.2:c.1116G>A, NM_001099284.1:c.1116G>A, NM_001324350.2:c.1116G>A, NM_001324350.1:c.1116G>A, NM_001324348.2:c.1116G>A, NM_001324348.1:c.1116G>A, NM_001324347.2:c.1116G>A, NM_001324347.1:c.1116G>A, NM_001099283.2:c.1116G>A, NM_001099283.1:c.1116G>A, XM_047425807.1:c.1548G>A, XM_047425808.1:c.1377G>A

                  9.

                  rs1461588379 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    GAG>- [Show Flanks]
                    Chromosome:
                    10:43557965 (GRCh38)
                    10:44053413 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:43557962:AGGAG:AG
                    Gene:
                    ZNF239 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,inframe_deletion
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AG=0./0 (ALFA)
                    -=0.000004/1 (TOPMED)
                    -=0.000012/3 (GnomAD_exomes)
                    HGVS:
                    NC_000010.11:g.43557965_43557967del, NC_000010.10:g.44053413_44053415del, XM_011540232.4:c.547_549del, XM_011540232.3:c.547_549del, XM_011540232.2:c.547_549del, XM_011540232.1:c.547_549del, XM_006718003.4:c.115_117del, XM_006718003.3:c.115_117del, XM_006718003.2:c.115_117del, XM_006718003.1:c.115_117del, NM_005674.3:c.115_117del, NM_005674.2:c.115_117del, XM_011540236.3:c.241_243del, XM_011540236.2:c.241_243del, XM_011540236.1:c.241_243del, XM_011540235.3:c.241_243del, XM_011540235.2:c.241_243del, XM_011540235.1:c.241_243del, XM_006718001.3:c.241_243del, XM_006718001.2:c.241_243del, XM_006718001.1:c.241_243del, XM_011540234.3:c.241_243del, XM_011540234.2:c.241_243del, XM_011540234.1:c.241_243del, XM_011540238.3:c.115_117del, XM_011540238.2:c.115_117del, XM_011540238.1:c.115_117del, NM_001324353.2:c.454_456del, NM_001324353.1:c.454_456del, XM_017016740.2:c.241_243del, XM_017016740.1:c.241_243del, NM_001324349.2:c.115_117del, NM_001324349.1:c.115_117del, NM_001324351.2:c.115_117del, NM_001324351.1:c.115_117del, NM_001324352.2:c.241_243del, NM_001324352.1:c.241_243del, NM_001099282.2:c.115_117del, NM_001099282.1:c.115_117del, NM_001099284.2:c.115_117del, NM_001099284.1:c.115_117del, NM_001324350.2:c.115_117del, NM_001324350.1:c.115_117del, NM_001324348.2:c.115_117del, NM_001324348.1:c.115_117del, NM_001324347.2:c.115_117del, NM_001324347.1:c.115_117del, NM_001099283.2:c.115_117del, NM_001099283.1:c.115_117del, XM_047425807.1:c.547_549del, XM_047425808.1:c.376_378del, XP_011538534.1:p.Pro183del, XP_006718066.1:p.Pro39del, NP_005665.2:p.Pro39del, XP_011538538.1:p.Pro81del, XP_011538537.1:p.Pro81del, XP_006718064.1:p.Pro81del, XP_011538536.1:p.Pro81del, XP_011538540.1:p.Pro39del, NP_001311282.1:p.Pro152del, XP_016872229.1:p.Pro81del, NP_001311278.1:p.Pro39del, NP_001311280.1:p.Pro39del, NP_001311281.1:p.Pro81del, NP_001092752.1:p.Pro39del, NP_001092754.1:p.Pro39del, NP_001311279.1:p.Pro39del, NP_001311277.1:p.Pro39del, NP_001311276.1:p.Pro39del, NP_001092753.1:p.Pro39del, XP_047281763.1:p.Pro183del, XP_047281764.1:p.Pro126del

                    10.

                    rs1455028682 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      10:43556723 (GRCh38)
                      10:44052171 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:43556722:G:A
                      Gene:
                      ZNF239 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000056/2 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000010.11:g.43556723G>A, NC_000010.10:g.44052171G>A, XM_011540232.4:c.1789C>T, XM_011540232.3:c.1789C>T, XM_011540232.2:c.1789C>T, XM_011540232.1:c.1789C>T, XM_006718003.4:c.1357C>T, XM_006718003.3:c.1357C>T, XM_006718003.2:c.1357C>T, XM_006718003.1:c.1357C>T, NM_005674.3:c.1357C>T, NM_005674.2:c.1357C>T, XM_011540236.3:c.1483C>T, XM_011540236.2:c.1483C>T, XM_011540236.1:c.1483C>T, XM_011540235.3:c.1483C>T, XM_011540235.2:c.1483C>T, XM_011540235.1:c.1483C>T, XM_006718001.3:c.1483C>T, XM_006718001.2:c.1483C>T, XM_006718001.1:c.1483C>T, XM_011540234.3:c.1483C>T, XM_011540234.2:c.1483C>T, XM_011540234.1:c.1483C>T, XM_011540238.3:c.1357C>T, XM_011540238.2:c.1357C>T, XM_011540238.1:c.1357C>T, NM_001324353.2:c.1696C>T, NM_001324353.1:c.1696C>T, XM_017016740.2:c.1483C>T, XM_017016740.1:c.1483C>T, NM_001324349.2:c.1357C>T, NM_001324349.1:c.1357C>T, NM_001324351.2:c.1357C>T, NM_001324351.1:c.1357C>T, NM_001324352.2:c.1483C>T, NM_001324352.1:c.1483C>T, NM_001099282.2:c.1357C>T, NM_001099282.1:c.1357C>T, NM_001099284.2:c.1357C>T, NM_001099284.1:c.1357C>T, NM_001324350.2:c.1357C>T, NM_001324350.1:c.1357C>T, NM_001324348.2:c.1357C>T, NM_001324348.1:c.1357C>T, NM_001324347.2:c.1357C>T, NM_001324347.1:c.1357C>T, NM_001099283.2:c.1357C>T, NM_001099283.1:c.1357C>T, XM_047425807.1:c.1789C>T, XM_047425808.1:c.1618C>T, XP_011538534.1:p.His597Tyr, XP_006718066.1:p.His453Tyr, NP_005665.2:p.His453Tyr, XP_011538538.1:p.His495Tyr, XP_011538537.1:p.His495Tyr, XP_006718064.1:p.His495Tyr, XP_011538536.1:p.His495Tyr, XP_011538540.1:p.His453Tyr, NP_001311282.1:p.His566Tyr, XP_016872229.1:p.His495Tyr, NP_001311278.1:p.His453Tyr, NP_001311280.1:p.His453Tyr, NP_001311281.1:p.His495Tyr, NP_001092752.1:p.His453Tyr, NP_001092754.1:p.His453Tyr, NP_001311279.1:p.His453Tyr, NP_001311277.1:p.His453Tyr, NP_001311276.1:p.His453Tyr, NP_001092753.1:p.His453Tyr, XP_047281763.1:p.His597Tyr, XP_047281764.1:p.His540Tyr

                      11.

                      rs1453884184 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        10:43557928 (GRCh38)
                        10:44053376 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:43557927:T:G
                        Gene:
                        ZNF239 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000010.11:g.43557928T>G, NC_000010.10:g.44053376T>G, XM_011540232.4:c.584A>C, XM_011540232.3:c.584A>C, XM_011540232.2:c.584A>C, XM_011540232.1:c.584A>C, XM_006718003.4:c.152A>C, XM_006718003.3:c.152A>C, XM_006718003.2:c.152A>C, XM_006718003.1:c.152A>C, NM_005674.3:c.152A>C, NM_005674.2:c.152A>C, XM_011540236.3:c.278A>C, XM_011540236.2:c.278A>C, XM_011540236.1:c.278A>C, XM_011540235.3:c.278A>C, XM_011540235.2:c.278A>C, XM_011540235.1:c.278A>C, XM_006718001.3:c.278A>C, XM_006718001.2:c.278A>C, XM_006718001.1:c.278A>C, XM_011540234.3:c.278A>C, XM_011540234.2:c.278A>C, XM_011540234.1:c.278A>C, XM_011540238.3:c.152A>C, XM_011540238.2:c.152A>C, XM_011540238.1:c.152A>C, NM_001324353.2:c.491A>C, NM_001324353.1:c.491A>C, XM_017016740.2:c.278A>C, XM_017016740.1:c.278A>C, NM_001324349.2:c.152A>C, NM_001324349.1:c.152A>C, NM_001324351.2:c.152A>C, NM_001324351.1:c.152A>C, NM_001324352.2:c.278A>C, NM_001324352.1:c.278A>C, NM_001099282.2:c.152A>C, NM_001099282.1:c.152A>C, NM_001099284.2:c.152A>C, NM_001099284.1:c.152A>C, NM_001324350.2:c.152A>C, NM_001324350.1:c.152A>C, NM_001324348.2:c.152A>C, NM_001324348.1:c.152A>C, NM_001324347.2:c.152A>C, NM_001324347.1:c.152A>C, NM_001099283.2:c.152A>C, NM_001099283.1:c.152A>C, XM_047425807.1:c.584A>C, XM_047425808.1:c.413A>C, XP_011538534.1:p.Gln195Pro, XP_006718066.1:p.Gln51Pro, NP_005665.2:p.Gln51Pro, XP_011538538.1:p.Gln93Pro, XP_011538537.1:p.Gln93Pro, XP_006718064.1:p.Gln93Pro, XP_011538536.1:p.Gln93Pro, XP_011538540.1:p.Gln51Pro, NP_001311282.1:p.Gln164Pro, XP_016872229.1:p.Gln93Pro, NP_001311278.1:p.Gln51Pro, NP_001311280.1:p.Gln51Pro, NP_001311281.1:p.Gln93Pro, NP_001092752.1:p.Gln51Pro, NP_001092754.1:p.Gln51Pro, NP_001311279.1:p.Gln51Pro, NP_001311277.1:p.Gln51Pro, NP_001311276.1:p.Gln51Pro, NP_001092753.1:p.Gln51Pro, XP_047281763.1:p.Gln195Pro, XP_047281764.1:p.Gln138Pro

                        12.

                        rs1453661944 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          10:43557243 (GRCh38)
                          10:44052691 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:43557242:G:A
                          Gene:
                          ZNF239 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0.000047/1 (ALFA)
                          A=0.000008/2 (GnomAD_exomes)
                          HGVS:
                          NC_000010.11:g.43557243G>A, NC_000010.10:g.44052691G>A, XM_011540232.4:c.1269C>T, XM_011540232.3:c.1269C>T, XM_011540232.2:c.1269C>T, XM_011540232.1:c.1269C>T, XM_006718003.4:c.837C>T, XM_006718003.3:c.837C>T, XM_006718003.2:c.837C>T, XM_006718003.1:c.837C>T, NM_005674.3:c.837C>T, NM_005674.2:c.837C>T, XM_011540236.3:c.963C>T, XM_011540236.2:c.963C>T, XM_011540236.1:c.963C>T, XM_011540235.3:c.963C>T, XM_011540235.2:c.963C>T, XM_011540235.1:c.963C>T, XM_006718001.3:c.963C>T, XM_006718001.2:c.963C>T, XM_006718001.1:c.963C>T, XM_011540234.3:c.963C>T, XM_011540234.2:c.963C>T, XM_011540234.1:c.963C>T, XM_011540238.3:c.837C>T, XM_011540238.2:c.837C>T, XM_011540238.1:c.837C>T, NM_001324353.2:c.1176C>T, NM_001324353.1:c.1176C>T, XM_017016740.2:c.963C>T, XM_017016740.1:c.963C>T, NM_001324349.2:c.837C>T, NM_001324349.1:c.837C>T, NM_001324351.2:c.837C>T, NM_001324351.1:c.837C>T, NM_001324352.2:c.963C>T, NM_001324352.1:c.963C>T, NM_001099282.2:c.837C>T, NM_001099282.1:c.837C>T, NM_001099284.2:c.837C>T, NM_001099284.1:c.837C>T, NM_001324350.2:c.837C>T, NM_001324350.1:c.837C>T, NM_001324348.2:c.837C>T, NM_001324348.1:c.837C>T, NM_001324347.2:c.837C>T, NM_001324347.1:c.837C>T, NM_001099283.2:c.837C>T, NM_001099283.1:c.837C>T, XM_047425807.1:c.1269C>T, XM_047425808.1:c.1098C>T

                          13.

                          rs1450020578 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            10:43556944 (GRCh38)
                            10:44052392 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:43556943:T:C
                            Gene:
                            ZNF239 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000008/2 (GnomAD_exomes)
                            HGVS:
                            NC_000010.11:g.43556944T>C, NC_000010.10:g.44052392T>C, XM_011540232.4:c.1568A>G, XM_011540232.3:c.1568A>G, XM_011540232.2:c.1568A>G, XM_011540232.1:c.1568A>G, XM_006718003.4:c.1136A>G, XM_006718003.3:c.1136A>G, XM_006718003.2:c.1136A>G, XM_006718003.1:c.1136A>G, NM_005674.3:c.1136A>G, NM_005674.2:c.1136A>G, XM_011540236.3:c.1262A>G, XM_011540236.2:c.1262A>G, XM_011540236.1:c.1262A>G, XM_011540235.3:c.1262A>G, XM_011540235.2:c.1262A>G, XM_011540235.1:c.1262A>G, XM_006718001.3:c.1262A>G, XM_006718001.2:c.1262A>G, XM_006718001.1:c.1262A>G, XM_011540234.3:c.1262A>G, XM_011540234.2:c.1262A>G, XM_011540234.1:c.1262A>G, XM_011540238.3:c.1136A>G, XM_011540238.2:c.1136A>G, XM_011540238.1:c.1136A>G, NM_001324353.2:c.1475A>G, NM_001324353.1:c.1475A>G, XM_017016740.2:c.1262A>G, XM_017016740.1:c.1262A>G, NM_001324349.2:c.1136A>G, NM_001324349.1:c.1136A>G, NM_001324351.2:c.1136A>G, NM_001324351.1:c.1136A>G, NM_001324352.2:c.1262A>G, NM_001324352.1:c.1262A>G, NM_001099282.2:c.1136A>G, NM_001099282.1:c.1136A>G, NM_001099284.2:c.1136A>G, NM_001099284.1:c.1136A>G, NM_001324350.2:c.1136A>G, NM_001324350.1:c.1136A>G, NM_001324348.2:c.1136A>G, NM_001324348.1:c.1136A>G, NM_001324347.2:c.1136A>G, NM_001324347.1:c.1136A>G, NM_001099283.2:c.1136A>G, NM_001099283.1:c.1136A>G, XM_047425807.1:c.1568A>G, XM_047425808.1:c.1397A>G, XP_011538534.1:p.Glu523Gly, XP_006718066.1:p.Glu379Gly, NP_005665.2:p.Glu379Gly, XP_011538538.1:p.Glu421Gly, XP_011538537.1:p.Glu421Gly, XP_006718064.1:p.Glu421Gly, XP_011538536.1:p.Glu421Gly, XP_011538540.1:p.Glu379Gly, NP_001311282.1:p.Glu492Gly, XP_016872229.1:p.Glu421Gly, NP_001311278.1:p.Glu379Gly, NP_001311280.1:p.Glu379Gly, NP_001311281.1:p.Glu421Gly, NP_001092752.1:p.Glu379Gly, NP_001092754.1:p.Glu379Gly, NP_001311279.1:p.Glu379Gly, NP_001311277.1:p.Glu379Gly, NP_001311276.1:p.Glu379Gly, NP_001092753.1:p.Glu379Gly, XP_047281763.1:p.Glu523Gly, XP_047281764.1:p.Glu466Gly

                            14.

                            rs1447390155 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              10:43557910 (GRCh38)
                              10:44053358 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:43557909:T:C
                              Gene:
                              ZNF239 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000010.11:g.43557910T>C, NC_000010.10:g.44053358T>C, XM_011540232.4:c.602A>G, XM_011540232.3:c.602A>G, XM_011540232.2:c.602A>G, XM_011540232.1:c.602A>G, XM_006718003.4:c.170A>G, XM_006718003.3:c.170A>G, XM_006718003.2:c.170A>G, XM_006718003.1:c.170A>G, NM_005674.3:c.170A>G, NM_005674.2:c.170A>G, XM_011540236.3:c.296A>G, XM_011540236.2:c.296A>G, XM_011540236.1:c.296A>G, XM_011540235.3:c.296A>G, XM_011540235.2:c.296A>G, XM_011540235.1:c.296A>G, XM_006718001.3:c.296A>G, XM_006718001.2:c.296A>G, XM_006718001.1:c.296A>G, XM_011540234.3:c.296A>G, XM_011540234.2:c.296A>G, XM_011540234.1:c.296A>G, XM_011540238.3:c.170A>G, XM_011540238.2:c.170A>G, XM_011540238.1:c.170A>G, NM_001324353.2:c.509A>G, NM_001324353.1:c.509A>G, XM_017016740.2:c.296A>G, XM_017016740.1:c.296A>G, NM_001324349.2:c.170A>G, NM_001324349.1:c.170A>G, NM_001324351.2:c.170A>G, NM_001324351.1:c.170A>G, NM_001324352.2:c.296A>G, NM_001324352.1:c.296A>G, NM_001099282.2:c.170A>G, NM_001099282.1:c.170A>G, NM_001099284.2:c.170A>G, NM_001099284.1:c.170A>G, NM_001324350.2:c.170A>G, NM_001324350.1:c.170A>G, NM_001324348.2:c.170A>G, NM_001324348.1:c.170A>G, NM_001324347.2:c.170A>G, NM_001324347.1:c.170A>G, NM_001099283.2:c.170A>G, NM_001099283.1:c.170A>G, XM_047425807.1:c.602A>G, XM_047425808.1:c.431A>G, XP_011538534.1:p.Asn201Ser, XP_006718066.1:p.Asn57Ser, NP_005665.2:p.Asn57Ser, XP_011538538.1:p.Asn99Ser, XP_011538537.1:p.Asn99Ser, XP_006718064.1:p.Asn99Ser, XP_011538536.1:p.Asn99Ser, XP_011538540.1:p.Asn57Ser, NP_001311282.1:p.Asn170Ser, XP_016872229.1:p.Asn99Ser, NP_001311278.1:p.Asn57Ser, NP_001311280.1:p.Asn57Ser, NP_001311281.1:p.Asn99Ser, NP_001092752.1:p.Asn57Ser, NP_001092754.1:p.Asn57Ser, NP_001311279.1:p.Asn57Ser, NP_001311277.1:p.Asn57Ser, NP_001311276.1:p.Asn57Ser, NP_001092753.1:p.Asn57Ser, XP_047281763.1:p.Asn201Ser, XP_047281764.1:p.Asn144Ser

                              15.

                              rs1446118913 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                10:43557708 (GRCh38)
                                10:44053156 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:43557707:T:C
                                Gene:
                                ZNF239 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000010.11:g.43557708T>C, NC_000010.10:g.44053156T>C, XM_011540232.4:c.804A>G, XM_011540232.3:c.804A>G, XM_011540232.2:c.804A>G, XM_011540232.1:c.804A>G, XM_006718003.4:c.372A>G, XM_006718003.3:c.372A>G, XM_006718003.2:c.372A>G, XM_006718003.1:c.372A>G, NM_005674.3:c.372A>G, NM_005674.2:c.372A>G, XM_011540236.3:c.498A>G, XM_011540236.2:c.498A>G, XM_011540236.1:c.498A>G, XM_011540235.3:c.498A>G, XM_011540235.2:c.498A>G, XM_011540235.1:c.498A>G, XM_006718001.3:c.498A>G, XM_006718001.2:c.498A>G, XM_006718001.1:c.498A>G, XM_011540234.3:c.498A>G, XM_011540234.2:c.498A>G, XM_011540234.1:c.498A>G, XM_011540238.3:c.372A>G, XM_011540238.2:c.372A>G, XM_011540238.1:c.372A>G, NM_001324353.2:c.711A>G, NM_001324353.1:c.711A>G, XM_017016740.2:c.498A>G, XM_017016740.1:c.498A>G, NM_001324349.2:c.372A>G, NM_001324349.1:c.372A>G, NM_001324351.2:c.372A>G, NM_001324351.1:c.372A>G, NM_001324352.2:c.498A>G, NM_001324352.1:c.498A>G, NM_001099282.2:c.372A>G, NM_001099282.1:c.372A>G, NM_001099284.2:c.372A>G, NM_001099284.1:c.372A>G, NM_001324350.2:c.372A>G, NM_001324350.1:c.372A>G, NM_001324348.2:c.372A>G, NM_001324348.1:c.372A>G, NM_001324347.2:c.372A>G, NM_001324347.1:c.372A>G, NM_001099283.2:c.372A>G, NM_001099283.1:c.372A>G, XM_047425807.1:c.804A>G, XM_047425808.1:c.633A>G

                                16.

                                rs1445152267 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  10:43557362 (GRCh38)
                                  10:44052810 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:43557361:A:G
                                  Gene:
                                  ZNF239 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  HGVS:
                                  NC_000010.11:g.43557362A>G, NC_000010.10:g.44052810A>G, XM_011540232.4:c.1150T>C, XM_011540232.3:c.1150T>C, XM_011540232.2:c.1150T>C, XM_011540232.1:c.1150T>C, XM_006718003.4:c.718T>C, XM_006718003.3:c.718T>C, XM_006718003.2:c.718T>C, XM_006718003.1:c.718T>C, NM_005674.3:c.718T>C, NM_005674.2:c.718T>C, XM_011540236.3:c.844T>C, XM_011540236.2:c.844T>C, XM_011540236.1:c.844T>C, XM_011540235.3:c.844T>C, XM_011540235.2:c.844T>C, XM_011540235.1:c.844T>C, XM_006718001.3:c.844T>C, XM_006718001.2:c.844T>C, XM_006718001.1:c.844T>C, XM_011540234.3:c.844T>C, XM_011540234.2:c.844T>C, XM_011540234.1:c.844T>C, XM_011540238.3:c.718T>C, XM_011540238.2:c.718T>C, XM_011540238.1:c.718T>C, NM_001324353.2:c.1057T>C, NM_001324353.1:c.1057T>C, XM_017016740.2:c.844T>C, XM_017016740.1:c.844T>C, NM_001324349.2:c.718T>C, NM_001324349.1:c.718T>C, NM_001324351.2:c.718T>C, NM_001324351.1:c.718T>C, NM_001324352.2:c.844T>C, NM_001324352.1:c.844T>C, NM_001099282.2:c.718T>C, NM_001099282.1:c.718T>C, NM_001099284.2:c.718T>C, NM_001099284.1:c.718T>C, NM_001324350.2:c.718T>C, NM_001324350.1:c.718T>C, NM_001324348.2:c.718T>C, NM_001324348.1:c.718T>C, NM_001324347.2:c.718T>C, NM_001324347.1:c.718T>C, NM_001099283.2:c.718T>C, NM_001099283.1:c.718T>C, XM_047425807.1:c.1150T>C, XM_047425808.1:c.979T>C, XP_011538534.1:p.Cys384Arg, XP_006718066.1:p.Cys240Arg, NP_005665.2:p.Cys240Arg, XP_011538538.1:p.Cys282Arg, XP_011538537.1:p.Cys282Arg, XP_006718064.1:p.Cys282Arg, XP_011538536.1:p.Cys282Arg, XP_011538540.1:p.Cys240Arg, NP_001311282.1:p.Cys353Arg, XP_016872229.1:p.Cys282Arg, NP_001311278.1:p.Cys240Arg, NP_001311280.1:p.Cys240Arg, NP_001311281.1:p.Cys282Arg, NP_001092752.1:p.Cys240Arg, NP_001092754.1:p.Cys240Arg, NP_001311279.1:p.Cys240Arg, NP_001311277.1:p.Cys240Arg, NP_001311276.1:p.Cys240Arg, NP_001092753.1:p.Cys240Arg, XP_047281763.1:p.Cys384Arg, XP_047281764.1:p.Cys327Arg

                                  17.

                                  rs1445087367 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    10:43557875 (GRCh38)
                                    10:44053323 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:43557874:A:C
                                    Gene:
                                    ZNF239 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000010.11:g.43557875A>C, NC_000010.10:g.44053323A>C, XM_011540232.4:c.637T>G, XM_011540232.3:c.637T>G, XM_011540232.2:c.637T>G, XM_011540232.1:c.637T>G, XM_006718003.4:c.205T>G, XM_006718003.3:c.205T>G, XM_006718003.2:c.205T>G, XM_006718003.1:c.205T>G, NM_005674.3:c.205T>G, NM_005674.2:c.205T>G, XM_011540236.3:c.331T>G, XM_011540236.2:c.331T>G, XM_011540236.1:c.331T>G, XM_011540235.3:c.331T>G, XM_011540235.2:c.331T>G, XM_011540235.1:c.331T>G, XM_006718001.3:c.331T>G, XM_006718001.2:c.331T>G, XM_006718001.1:c.331T>G, XM_011540234.3:c.331T>G, XM_011540234.2:c.331T>G, XM_011540234.1:c.331T>G, XM_011540238.3:c.205T>G, XM_011540238.2:c.205T>G, XM_011540238.1:c.205T>G, NM_001324353.2:c.544T>G, NM_001324353.1:c.544T>G, XM_017016740.2:c.331T>G, XM_017016740.1:c.331T>G, NM_001324349.2:c.205T>G, NM_001324349.1:c.205T>G, NM_001324351.2:c.205T>G, NM_001324351.1:c.205T>G, NM_001324352.2:c.331T>G, NM_001324352.1:c.331T>G, NM_001099282.2:c.205T>G, NM_001099282.1:c.205T>G, NM_001099284.2:c.205T>G, NM_001099284.1:c.205T>G, NM_001324350.2:c.205T>G, NM_001324350.1:c.205T>G, NM_001324348.2:c.205T>G, NM_001324348.1:c.205T>G, NM_001324347.2:c.205T>G, NM_001324347.1:c.205T>G, NM_001099283.2:c.205T>G, NM_001099283.1:c.205T>G, XM_047425807.1:c.637T>G, XM_047425808.1:c.466T>G, XP_011538534.1:p.Ser213Ala, XP_006718066.1:p.Ser69Ala, NP_005665.2:p.Ser69Ala, XP_011538538.1:p.Ser111Ala, XP_011538537.1:p.Ser111Ala, XP_006718064.1:p.Ser111Ala, XP_011538536.1:p.Ser111Ala, XP_011538540.1:p.Ser69Ala, NP_001311282.1:p.Ser182Ala, XP_016872229.1:p.Ser111Ala, NP_001311278.1:p.Ser69Ala, NP_001311280.1:p.Ser69Ala, NP_001311281.1:p.Ser111Ala, NP_001092752.1:p.Ser69Ala, NP_001092754.1:p.Ser69Ala, NP_001311279.1:p.Ser69Ala, NP_001311277.1:p.Ser69Ala, NP_001311276.1:p.Ser69Ala, NP_001092753.1:p.Ser69Ala, XP_047281763.1:p.Ser213Ala, XP_047281764.1:p.Ser156Ala

                                    18.

                                    rs1440725274 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      10:43556810 (GRCh38)
                                      10:44052258 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:43556809:C:T
                                      Gene:
                                      ZNF239 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000010.11:g.43556810C>T, NC_000010.10:g.44052258C>T, XM_011540232.4:c.1702G>A, XM_011540232.3:c.1702G>A, XM_011540232.2:c.1702G>A, XM_011540232.1:c.1702G>A, XM_006718003.4:c.1270G>A, XM_006718003.3:c.1270G>A, XM_006718003.2:c.1270G>A, XM_006718003.1:c.1270G>A, NM_005674.3:c.1270G>A, NM_005674.2:c.1270G>A, XM_011540236.3:c.1396G>A, XM_011540236.2:c.1396G>A, XM_011540236.1:c.1396G>A, XM_011540235.3:c.1396G>A, XM_011540235.2:c.1396G>A, XM_011540235.1:c.1396G>A, XM_006718001.3:c.1396G>A, XM_006718001.2:c.1396G>A, XM_006718001.1:c.1396G>A, XM_011540234.3:c.1396G>A, XM_011540234.2:c.1396G>A, XM_011540234.1:c.1396G>A, XM_011540238.3:c.1270G>A, XM_011540238.2:c.1270G>A, XM_011540238.1:c.1270G>A, NM_001324353.2:c.1609G>A, NM_001324353.1:c.1609G>A, XM_017016740.2:c.1396G>A, XM_017016740.1:c.1396G>A, NM_001324349.2:c.1270G>A, NM_001324349.1:c.1270G>A, NM_001324351.2:c.1270G>A, NM_001324351.1:c.1270G>A, NM_001324352.2:c.1396G>A, NM_001324352.1:c.1396G>A, NM_001099282.2:c.1270G>A, NM_001099282.1:c.1270G>A, NM_001099284.2:c.1270G>A, NM_001099284.1:c.1270G>A, NM_001324350.2:c.1270G>A, NM_001324350.1:c.1270G>A, NM_001324348.2:c.1270G>A, NM_001324348.1:c.1270G>A, NM_001324347.2:c.1270G>A, NM_001324347.1:c.1270G>A, NM_001099283.2:c.1270G>A, NM_001099283.1:c.1270G>A, XM_047425807.1:c.1702G>A, XM_047425808.1:c.1531G>A, XP_011538534.1:p.Val568Ile, XP_006718066.1:p.Val424Ile, NP_005665.2:p.Val424Ile, XP_011538538.1:p.Val466Ile, XP_011538537.1:p.Val466Ile, XP_006718064.1:p.Val466Ile, XP_011538536.1:p.Val466Ile, XP_011538540.1:p.Val424Ile, NP_001311282.1:p.Val537Ile, XP_016872229.1:p.Val466Ile, NP_001311278.1:p.Val424Ile, NP_001311280.1:p.Val424Ile, NP_001311281.1:p.Val466Ile, NP_001092752.1:p.Val424Ile, NP_001092754.1:p.Val424Ile, NP_001311279.1:p.Val424Ile, NP_001311277.1:p.Val424Ile, NP_001311276.1:p.Val424Ile, NP_001092753.1:p.Val424Ile, XP_047281763.1:p.Val568Ile, XP_047281764.1:p.Val511Ile

                                      19.

                                      rs1440634638 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        TA>- [Show Flanks]
                                        Chromosome:
                                        10:43556947 (GRCh38)
                                        10:44052395 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:43556945:ATA:A
                                        Gene:
                                        ZNF239 (Varview)
                                        Functional Consequence:
                                        stop_gained,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        -=0.000007/1 (GnomAD)
                                        -=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000010.11:g.43556947_43556948del, NC_000010.10:g.44052395_44052396del, XM_011540232.4:c.1565_1566del, XM_011540232.3:c.1565_1566del, XM_011540232.2:c.1565_1566del, XM_011540232.1:c.1565_1566del, XM_006718003.4:c.1133_1134del, XM_006718003.3:c.1133_1134del, XM_006718003.2:c.1133_1134del, XM_006718003.1:c.1133_1134del, NM_005674.3:c.1133_1134del, NM_005674.2:c.1133_1134del, XM_011540236.3:c.1259_1260del, XM_011540236.2:c.1259_1260del, XM_011540236.1:c.1259_1260del, XM_011540235.3:c.1259_1260del, XM_011540235.2:c.1259_1260del, XM_011540235.1:c.1259_1260del, XM_006718001.3:c.1259_1260del, XM_006718001.2:c.1259_1260del, XM_006718001.1:c.1259_1260del, XM_011540234.3:c.1259_1260del, XM_011540234.2:c.1259_1260del, XM_011540234.1:c.1259_1260del, XM_011540238.3:c.1133_1134del, XM_011540238.2:c.1133_1134del, XM_011540238.1:c.1133_1134del, NM_001324353.2:c.1472_1473del, NM_001324353.1:c.1472_1473del, XM_017016740.2:c.1259_1260del, XM_017016740.1:c.1259_1260del, NM_001324349.2:c.1133_1134del, NM_001324349.1:c.1133_1134del, NM_001324351.2:c.1133_1134del, NM_001324351.1:c.1133_1134del, NM_001324352.2:c.1259_1260del, NM_001324352.1:c.1259_1260del, NM_001099282.2:c.1133_1134del, NM_001099282.1:c.1133_1134del, NM_001099284.2:c.1133_1134del, NM_001099284.1:c.1133_1134del, NM_001324350.2:c.1133_1134del, NM_001324350.1:c.1133_1134del, NM_001324348.2:c.1133_1134del, NM_001324348.1:c.1133_1134del, NM_001324347.2:c.1133_1134del, NM_001324347.1:c.1133_1134del, NM_001099283.2:c.1133_1134del, NM_001099283.1:c.1133_1134del, XM_047425807.1:c.1565_1566del, XM_047425808.1:c.1394_1395del, XP_011538534.1:p.Cys521_Tyr522insTer, XP_006718066.1:p.Cys377_Tyr378insTer, NP_005665.2:p.Cys377_Tyr378insTer, XP_011538538.1:p.Cys419_Tyr420insTer, XP_011538537.1:p.Cys419_Tyr420insTer, XP_006718064.1:p.Cys419_Tyr420insTer, XP_011538536.1:p.Cys419_Tyr420insTer, XP_011538540.1:p.Cys377_Tyr378insTer, NP_001311282.1:p.Cys490_Tyr491insTer, XP_016872229.1:p.Cys419_Tyr420insTer, NP_001311278.1:p.Cys377_Tyr378insTer, NP_001311280.1:p.Cys377_Tyr378insTer, NP_001311281.1:p.Cys419_Tyr420insTer, NP_001092752.1:p.Cys377_Tyr378insTer, NP_001092754.1:p.Cys377_Tyr378insTer, NP_001311279.1:p.Cys377_Tyr378insTer, NP_001311277.1:p.Cys377_Tyr378insTer, NP_001311276.1:p.Cys377_Tyr378insTer, NP_001092753.1:p.Cys377_Tyr378insTer, XP_047281763.1:p.Cys521_Tyr522insTer, XP_047281764.1:p.Cys464_Tyr465insTer

                                        20.

                                        rs1437352808 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          C>- [Show Flanks]
                                          Chromosome:
                                          10:43557979 (GRCh38)
                                          10:44053427 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:43557978:CCCC:CCC
                                          Gene:
                                          ZNF239 (Varview)
                                          Functional Consequence:
                                          frameshift_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          CCC=0./0 (ALFA)
                                          -=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000010.11:g.43557982del, NC_000010.10:g.44053430del, XM_011540232.4:c.533del, XM_011540232.3:c.533del, XM_011540232.2:c.533del, XM_011540232.1:c.533del, XM_006718003.4:c.101del, XM_006718003.3:c.101del, XM_006718003.2:c.101del, XM_006718003.1:c.101del, NM_005674.3:c.101del, NM_005674.2:c.101del, XM_011540236.3:c.227del, XM_011540236.2:c.227del, XM_011540236.1:c.227del, XM_011540235.3:c.227del, XM_011540235.2:c.227del, XM_011540235.1:c.227del, XM_006718001.3:c.227del, XM_006718001.2:c.227del, XM_006718001.1:c.227del, XM_011540234.3:c.227del, XM_011540234.2:c.227del, XM_011540234.1:c.227del, XM_011540238.3:c.101del, XM_011540238.2:c.101del, XM_011540238.1:c.101del, NM_001324353.2:c.440del, NM_001324353.1:c.440del, XM_017016740.2:c.227del, XM_017016740.1:c.227del, NM_001324349.2:c.101del, NM_001324349.1:c.101del, NM_001324351.2:c.101del, NM_001324351.1:c.101del, NM_001324352.2:c.227del, NM_001324352.1:c.227del, NM_001099282.2:c.101del, NM_001099282.1:c.101del, NM_001099284.2:c.101del, NM_001099284.1:c.101del, NM_001324350.2:c.101del, NM_001324350.1:c.101del, NM_001324348.2:c.101del, NM_001324348.1:c.101del, NM_001324347.2:c.101del, NM_001324347.1:c.101del, NM_001099283.2:c.101del, NM_001099283.1:c.101del, XM_047425807.1:c.533del, XM_047425808.1:c.362del, XP_011538534.1:p.Gly178fs, XP_006718066.1:p.Gly34fs, NP_005665.2:p.Gly34fs, XP_011538538.1:p.Gly76fs, XP_011538537.1:p.Gly76fs, XP_006718064.1:p.Gly76fs, XP_011538536.1:p.Gly76fs, XP_011538540.1:p.Gly34fs, NP_001311282.1:p.Gly147fs, XP_016872229.1:p.Gly76fs, NP_001311278.1:p.Gly34fs, NP_001311280.1:p.Gly34fs, NP_001311281.1:p.Gly76fs, NP_001092752.1:p.Gly34fs, NP_001092754.1:p.Gly34fs, NP_001311279.1:p.Gly34fs, NP_001311277.1:p.Gly34fs, NP_001311276.1:p.Gly34fs, NP_001092753.1:p.Gly34fs, XP_047281763.1:p.Gly178fs, XP_047281764.1:p.Gly121fs

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