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Items: 1 to 20 of 664

1.

rs1489815232 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    10:45624598 (GRCh38)
    10:46120046 (GRCh37)
    Canonical SPDI:
    NC_000010.11:45624597:C:A,NC_000010.11:45624597:C:T
    Gene:
    ZFAND4 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    T=0.000007/1 (GnomAD)
    HGVS:
    NC_000010.11:g.45624598C>A, NC_000010.11:g.45624598C>T, NC_000010.10:g.46120046C>A, NC_000010.10:g.46120046C>T, NM_174890.4:c.1912G>T, NM_174890.4:c.1912G>A, NM_174890.3:c.1912G>T, NM_174890.3:c.1912G>A, NM_174890.2:c.1912G>T, NM_174890.2:c.1912G>A, XM_011540366.3:c.1936G>T, XM_011540366.3:c.1936G>A, XM_011540366.2:c.1936G>T, XM_011540366.2:c.1936G>A, XM_011540366.1:c.1936G>T, XM_011540366.1:c.1936G>A, XM_017016933.3:c.1930G>T, XM_017016933.3:c.1930G>A, XM_017016933.2:c.1930G>T, XM_017016933.2:c.1930G>A, XM_017016933.1:c.1930G>T, XM_017016933.1:c.1930G>A, XM_017016939.3:c.1768G>T, XM_017016939.3:c.1768G>A, XM_017016939.2:c.1768G>T, XM_017016939.2:c.1768G>A, XM_017016939.1:c.1768G>T, XM_017016939.1:c.1768G>A, XM_017016940.3:c.1708G>T, XM_017016940.3:c.1708G>A, XM_017016940.2:c.1708G>T, XM_017016940.2:c.1708G>A, XM_017016940.1:c.1708G>T, XM_017016940.1:c.1708G>A, NM_001128324.2:c.1912G>T, NM_001128324.2:c.1912G>A, NM_001128324.1:c.1912G>T, NM_001128324.1:c.1912G>A, XM_017016931.2:c.1954G>T, XM_017016931.2:c.1954G>A, XM_017016931.1:c.1954G>T, XM_017016931.1:c.1954G>A, XR_001747259.2:n.2808G>T, XR_001747259.2:n.2808G>A, XR_001747259.1:n.1944G>T, XR_001747259.1:n.1944G>A, XM_011540368.2:c.1396G>T, XM_011540368.2:c.1396G>A, XM_011540368.1:c.1396G>T, XM_011540368.1:c.1396G>A, XM_047426008.1:c.2098G>T, XM_047426008.1:c.2098G>A, XM_047426009.1:c.2080G>T, XM_047426009.1:c.2080G>A, XM_047426010.1:c.1930G>T, XM_047426010.1:c.1930G>A, XM_047426011.1:c.1930G>T, XM_047426011.1:c.1930G>A, NM_001282905.1:c.1690G>T, NM_001282905.1:c.1690G>A, XM_047426012.1:c.1930G>T, XM_047426012.1:c.1930G>A, XM_047426014.1:c.1768G>T, XM_047426014.1:c.1768G>A, NM_001282906.1:c.1690G>T, NM_001282906.1:c.1690G>A, XM_047426017.1:c.1930G>T, XM_047426017.1:c.1930G>A, XM_047426016.1:c.1633G>T, XM_047426016.1:c.1633G>A, NP_777550.2:p.Ala638Ser, NP_777550.2:p.Ala638Thr, XP_011538668.1:p.Ala646Ser, XP_011538668.1:p.Ala646Thr, XP_016872422.1:p.Ala644Ser, XP_016872422.1:p.Ala644Thr, XP_016872428.1:p.Ala590Ser, XP_016872428.1:p.Ala590Thr, XP_016872429.1:p.Ala570Ser, XP_016872429.1:p.Ala570Thr, NP_001121796.1:p.Ala638Ser, NP_001121796.1:p.Ala638Thr, XP_016872420.1:p.Ala652Ser, XP_016872420.1:p.Ala652Thr, XP_011538670.1:p.Ala466Ser, XP_011538670.1:p.Ala466Thr, XP_047281964.1:p.Ala700Ser, XP_047281964.1:p.Ala700Thr, XP_047281965.1:p.Ala694Ser, XP_047281965.1:p.Ala694Thr, XP_047281966.1:p.Ala644Ser, XP_047281966.1:p.Ala644Thr, XP_047281967.1:p.Ala644Ser, XP_047281967.1:p.Ala644Thr, NP_001269834.1:p.Ala564Ser, NP_001269834.1:p.Ala564Thr, XP_047281968.1:p.Ala644Ser, XP_047281968.1:p.Ala644Thr, XP_047281970.1:p.Ala590Ser, XP_047281970.1:p.Ala590Thr, NP_001269835.1:p.Ala564Ser, NP_001269835.1:p.Ala564Thr, XP_047281973.1:p.Ala644Ser, XP_047281973.1:p.Ala644Thr, XP_047281972.1:p.Ala545Ser, XP_047281972.1:p.Ala545Thr

    2.

    rs1488991428 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      10:45616554 (GRCh38)
      10:46112002 (GRCh37)
      Canonical SPDI:
      NC_000010.11:45616553:C:A
      Gene:
      ZFAND4 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000010.11:g.45616554C>A, NC_000010.10:g.46112002C>A, NM_174890.4:c.2066G>T, NM_174890.3:c.2066G>T, NM_174890.2:c.2066G>T, XM_011540366.3:c.2090G>T, XM_011540366.2:c.2090G>T, XM_011540366.1:c.2090G>T, XM_017016933.3:c.2084G>T, XM_017016933.2:c.2084G>T, XM_017016933.1:c.2084G>T, XM_017016939.3:c.1922G>T, XM_017016939.2:c.1922G>T, XM_017016939.1:c.1922G>T, XM_017016940.3:c.1862G>T, XM_017016940.2:c.1862G>T, XM_017016940.1:c.1862G>T, NM_001128324.2:c.2066G>T, NM_001128324.1:c.2066G>T, XM_017016931.2:c.2108G>T, XM_017016931.1:c.2108G>T, XM_011540368.2:c.1550G>T, XM_011540368.1:c.1550G>T, XM_047426008.1:c.2252G>T, XM_047426009.1:c.2234G>T, XM_047426010.1:c.2084G>T, XM_047426011.1:c.2084G>T, NM_001282905.1:c.1844G>T, XM_047426012.1:c.2084G>T, XM_047426014.1:c.1922G>T, NM_001282906.1:c.1844G>T, XM_047426017.1:c.2084G>T, XM_047426016.1:c.1787G>T, NP_777550.2:p.Cys689Phe, XP_011538668.1:p.Cys697Phe, XP_016872422.1:p.Cys695Phe, XP_016872428.1:p.Cys641Phe, XP_016872429.1:p.Cys621Phe, NP_001121796.1:p.Cys689Phe, XP_016872420.1:p.Cys703Phe, XP_011538670.1:p.Cys517Phe, XP_047281964.1:p.Cys751Phe, XP_047281965.1:p.Cys745Phe, XP_047281966.1:p.Cys695Phe, XP_047281967.1:p.Cys695Phe, NP_001269834.1:p.Cys615Phe, XP_047281968.1:p.Cys695Phe, XP_047281970.1:p.Cys641Phe, NP_001269835.1:p.Cys615Phe, XP_047281973.1:p.Cys695Phe, XP_047281972.1:p.Cys596Phe

      3.

      rs1487425952 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        10:45626530 (GRCh38)
        10:46121978 (GRCh37)
        Canonical SPDI:
        NC_000010.11:45626529:A:G
        Gene:
        ZFAND4 (Varview)
        Functional Consequence:
        intron_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        G=0.000004/1 (TOPMED)
        G=0.000014/2 (GnomAD)
        HGVS:
        NC_000010.11:g.45626530A>G, NC_000010.10:g.46121978A>G, NM_174890.4:c.1293T>C, NM_174890.3:c.1293T>C, NM_174890.2:c.1293T>C, XM_011540366.3:c.1317T>C, XM_011540366.2:c.1317T>C, XM_011540366.1:c.1317T>C, XM_017016933.3:c.1311T>C, XM_017016933.2:c.1311T>C, XM_017016933.1:c.1311T>C, XM_017016939.3:c.1149T>C, XM_017016939.2:c.1149T>C, XM_017016939.1:c.1149T>C, XM_017016940.3:c.1089T>C, XM_017016940.2:c.1089T>C, XM_017016940.1:c.1089T>C, NM_001128324.2:c.1293T>C, NM_001128324.1:c.1293T>C, XM_017016931.2:c.1335T>C, XM_017016931.1:c.1335T>C, XR_001747259.2:n.2189T>C, XR_001747259.1:n.1325T>C, XM_017016935.2:c.1479T>C, XM_017016935.1:c.1311T>C, XM_011540368.2:c.777T>C, XM_011540368.1:c.777T>C, XM_047426008.1:c.1479T>C, XM_047426009.1:c.1461T>C, XM_047426010.1:c.1311T>C, XM_047426011.1:c.1311T>C, NM_001282905.1:c.1071T>C, XM_047426012.1:c.1311T>C, XM_047426014.1:c.1149T>C, NM_001282906.1:c.1071T>C, XM_047426017.1:c.1311T>C, XM_047426016.1:c.1014T>C, XM_047426013.1:c.1461T>C, XM_047426015.1:c.1293T>C

        4.

        rs1485733514 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          10:45626022 (GRCh38)
          10:46121470 (GRCh37)
          Canonical SPDI:
          NC_000010.11:45626021:T:C
          Gene:
          ZFAND4 (Varview)
          Functional Consequence:
          intron_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000010.11:g.45626022T>C, NC_000010.10:g.46121470T>C, NM_174890.4:c.1801A>G, NM_174890.3:c.1801A>G, NM_174890.2:c.1801A>G, XM_011540366.3:c.1825A>G, XM_011540366.2:c.1825A>G, XM_011540366.1:c.1825A>G, XM_017016933.3:c.1819A>G, XM_017016933.2:c.1819A>G, XM_017016933.1:c.1819A>G, XM_017016939.3:c.1657A>G, XM_017016939.2:c.1657A>G, XM_017016939.1:c.1657A>G, XM_017016940.3:c.1597A>G, XM_017016940.2:c.1597A>G, XM_017016940.1:c.1597A>G, NM_001128324.2:c.1801A>G, NM_001128324.1:c.1801A>G, XM_017016931.2:c.1843A>G, XM_017016931.1:c.1843A>G, XR_001747259.2:n.2697A>G, XR_001747259.1:n.1833A>G, XM_017016935.2:c.1987A>G, XM_017016935.1:c.1819A>G, XM_011540368.2:c.1285A>G, XM_011540368.1:c.1285A>G, XM_047426008.1:c.1987A>G, XM_047426009.1:c.1969A>G, XM_047426010.1:c.1819A>G, XM_047426011.1:c.1819A>G, NM_001282905.1:c.1579A>G, XM_047426012.1:c.1819A>G, XM_047426014.1:c.1657A>G, NM_001282906.1:c.1579A>G, XM_047426017.1:c.1819A>G, XM_047426016.1:c.1522A>G, XM_047426013.1:c.1969A>G, XM_047426015.1:c.1801A>G, NP_777550.2:p.Asn601Asp, XP_011538668.1:p.Asn609Asp, XP_016872422.1:p.Asn607Asp, XP_016872428.1:p.Asn553Asp, XP_016872429.1:p.Asn533Asp, NP_001121796.1:p.Asn601Asp, XP_016872420.1:p.Asn615Asp, XP_016872424.2:p.Asn663Asp, XP_011538670.1:p.Asn429Asp, XP_047281964.1:p.Asn663Asp, XP_047281965.1:p.Asn657Asp, XP_047281966.1:p.Asn607Asp, XP_047281967.1:p.Asn607Asp, NP_001269834.1:p.Asn527Asp, XP_047281968.1:p.Asn607Asp, XP_047281970.1:p.Asn553Asp, NP_001269835.1:p.Asn527Asp, XP_047281973.1:p.Asn607Asp, XP_047281972.1:p.Asn508Asp, XP_047281969.1:p.Asn657Asp, XP_047281971.1:p.Asn601Asp

          5.

          rs1481063002 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            10:45626799 (GRCh38)
            10:46122247 (GRCh37)
            Canonical SPDI:
            NC_000010.11:45626798:G:A
            Gene:
            ZFAND4 (Varview)
            Functional Consequence:
            intron_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000008/2 (GnomAD_exomes)
            A=0.000011/3 (TOPMED)
            HGVS:
            NC_000010.11:g.45626799G>A, NC_000010.10:g.46122247G>A, NM_174890.4:c.1024C>T, NM_174890.3:c.1024C>T, NM_174890.2:c.1024C>T, XM_011540366.3:c.1048C>T, XM_011540366.2:c.1048C>T, XM_011540366.1:c.1048C>T, XM_017016933.3:c.1042C>T, XM_017016933.2:c.1042C>T, XM_017016933.1:c.1042C>T, XM_017016939.3:c.880C>T, XM_017016939.2:c.880C>T, XM_017016939.1:c.880C>T, XM_017016940.3:c.820C>T, XM_017016940.2:c.820C>T, XM_017016940.1:c.820C>T, NM_001128324.2:c.1024C>T, NM_001128324.1:c.1024C>T, XM_017016931.2:c.1066C>T, XM_017016931.1:c.1066C>T, XR_001747259.2:n.1920C>T, XR_001747259.1:n.1056C>T, XM_017016935.2:c.1210C>T, XM_017016935.1:c.1042C>T, XM_011540368.2:c.508C>T, XM_011540368.1:c.508C>T, XM_047426008.1:c.1210C>T, XM_047426009.1:c.1192C>T, XM_047426010.1:c.1042C>T, XM_047426011.1:c.1042C>T, NM_001282905.1:c.802C>T, XM_047426012.1:c.1042C>T, XM_047426014.1:c.880C>T, NM_001282906.1:c.802C>T, XM_047426017.1:c.1042C>T, XM_047426016.1:c.745C>T, XM_047426013.1:c.1192C>T, XM_047426015.1:c.1024C>T, NP_777550.2:p.Pro342Ser, XP_011538668.1:p.Pro350Ser, XP_016872422.1:p.Pro348Ser, XP_016872428.1:p.Pro294Ser, XP_016872429.1:p.Pro274Ser, NP_001121796.1:p.Pro342Ser, XP_016872420.1:p.Pro356Ser, XP_016872424.2:p.Pro404Ser, XP_011538670.1:p.Pro170Ser, XP_047281964.1:p.Pro404Ser, XP_047281965.1:p.Pro398Ser, XP_047281966.1:p.Pro348Ser, XP_047281967.1:p.Pro348Ser, NP_001269834.1:p.Pro268Ser, XP_047281968.1:p.Pro348Ser, XP_047281970.1:p.Pro294Ser, NP_001269835.1:p.Pro268Ser, XP_047281973.1:p.Pro348Ser, XP_047281972.1:p.Pro249Ser, XP_047281969.1:p.Pro398Ser, XP_047281971.1:p.Pro342Ser

            6.

            rs1479753900 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              10:45624605 (GRCh38)
              10:46120053 (GRCh37)
              Canonical SPDI:
              NC_000010.11:45624604:A:G
              Gene:
              ZFAND4 (Varview)
              Functional Consequence:
              intron_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              HGVS:
              NC_000010.11:g.45624605A>G, NC_000010.10:g.46120053A>G, NM_174890.4:c.1905T>C, NM_174890.3:c.1905T>C, NM_174890.2:c.1905T>C, XM_011540366.3:c.1929T>C, XM_011540366.2:c.1929T>C, XM_011540366.1:c.1929T>C, XM_017016933.3:c.1923T>C, XM_017016933.2:c.1923T>C, XM_017016933.1:c.1923T>C, XM_017016939.3:c.1761T>C, XM_017016939.2:c.1761T>C, XM_017016939.1:c.1761T>C, XM_017016940.3:c.1701T>C, XM_017016940.2:c.1701T>C, XM_017016940.1:c.1701T>C, NM_001128324.2:c.1905T>C, NM_001128324.1:c.1905T>C, XM_017016931.2:c.1947T>C, XM_017016931.1:c.1947T>C, XR_001747259.2:n.2801T>C, XR_001747259.1:n.1937T>C, XM_011540368.2:c.1389T>C, XM_011540368.1:c.1389T>C, XM_047426008.1:c.2091T>C, XM_047426009.1:c.2073T>C, XM_047426010.1:c.1923T>C, XM_047426011.1:c.1923T>C, NM_001282905.1:c.1683T>C, XM_047426012.1:c.1923T>C, XM_047426014.1:c.1761T>C, NM_001282906.1:c.1683T>C, XM_047426017.1:c.1923T>C, XM_047426016.1:c.1626T>C

              7.

              rs1479526638 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                10:45648466 (GRCh38)
                10:46143914 (GRCh37)
                Canonical SPDI:
                NC_000010.11:45648465:T:G
                Gene:
                ZFAND4 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000010.11:g.45648466T>G, NC_000010.10:g.46143914T>G, NM_174890.4:c.397A>C, NM_174890.3:c.397A>C, NM_174890.2:c.397A>C, XM_011540366.3:c.421A>C, XM_011540366.2:c.421A>C, XM_011540366.1:c.421A>C, XM_017016933.3:c.397A>C, XM_017016933.2:c.397A>C, XM_017016933.1:c.397A>C, XM_017016939.3:c.253A>C, XM_017016939.2:c.253A>C, XM_017016939.1:c.253A>C, XM_017016940.3:c.175A>C, XM_017016940.2:c.175A>C, XM_017016940.1:c.175A>C, NM_001128324.2:c.397A>C, NM_001128324.1:c.397A>C, XM_017016931.2:c.421A>C, XM_017016931.1:c.421A>C, XR_001747259.2:n.1275A>C, XR_001747259.1:n.411A>C, XM_017016935.2:c.565A>C, XM_017016935.1:c.397A>C, NR_104256.2:n.608A>C, NR_104256.1:n.649A>C, XM_047426008.1:c.565A>C, XM_047426009.1:c.565A>C, XM_047426010.1:c.397A>C, XM_047426011.1:c.397A>C, NM_001282905.1:c.175A>C, XM_047426012.1:c.397A>C, XM_047426014.1:c.253A>C, NM_001282906.1:c.175A>C, XM_047426017.1:c.397A>C, XM_047426016.1:c.100A>C, XM_047426013.1:c.565A>C, XM_047426015.1:c.397A>C, XM_047426018.1:c.397A>C, NP_777550.2:p.Lys133Gln, XP_011538668.1:p.Lys141Gln, XP_016872422.1:p.Lys133Gln, XP_016872428.1:p.Lys85Gln, XP_016872429.1:p.Lys59Gln, NP_001121796.1:p.Lys133Gln, XP_016872420.1:p.Lys141Gln, XP_016872424.2:p.Lys189Gln, XP_047281964.1:p.Lys189Gln, XP_047281965.1:p.Lys189Gln, XP_047281966.1:p.Lys133Gln, XP_047281967.1:p.Lys133Gln, NP_001269834.1:p.Lys59Gln, XP_047281968.1:p.Lys133Gln, XP_047281970.1:p.Lys85Gln, NP_001269835.1:p.Lys59Gln, XP_047281973.1:p.Lys133Gln, XP_047281972.1:p.Lys34Gln, XP_047281969.1:p.Lys189Gln, XP_047281971.1:p.Lys133Gln, XP_047281974.1:p.Lys133Gln

                8.

                rs1476911170 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  10:45627020 (GRCh38)
                  10:46122468 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:45627019:A:G
                  Gene:
                  ZFAND4 (Varview)
                  Functional Consequence:
                  intron_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000010.11:g.45627020A>G, NC_000010.10:g.46122468A>G, NM_174890.4:c.803T>C, NM_174890.3:c.803T>C, NM_174890.2:c.803T>C, XM_011540366.3:c.827T>C, XM_011540366.2:c.827T>C, XM_011540366.1:c.827T>C, XM_017016933.3:c.821T>C, XM_017016933.2:c.821T>C, XM_017016933.1:c.821T>C, XM_017016939.3:c.659T>C, XM_017016939.2:c.659T>C, XM_017016939.1:c.659T>C, XM_017016940.3:c.599T>C, XM_017016940.2:c.599T>C, XM_017016940.1:c.599T>C, NM_001128324.2:c.803T>C, NM_001128324.1:c.803T>C, XM_017016931.2:c.845T>C, XM_017016931.1:c.845T>C, XR_001747259.2:n.1699T>C, XR_001747259.1:n.835T>C, XM_017016935.2:c.989T>C, XM_017016935.1:c.821T>C, XM_011540368.2:c.287T>C, XM_011540368.1:c.287T>C, XM_047426008.1:c.989T>C, XM_047426009.1:c.971T>C, XM_047426010.1:c.821T>C, XM_047426011.1:c.821T>C, NM_001282905.1:c.581T>C, XM_047426012.1:c.821T>C, XM_047426014.1:c.659T>C, NM_001282906.1:c.581T>C, XM_047426017.1:c.821T>C, XM_047426016.1:c.524T>C, XM_047426013.1:c.971T>C, XM_047426015.1:c.803T>C, NP_777550.2:p.Leu268Ser, XP_011538668.1:p.Leu276Ser, XP_016872422.1:p.Leu274Ser, XP_016872428.1:p.Leu220Ser, XP_016872429.1:p.Leu200Ser, NP_001121796.1:p.Leu268Ser, XP_016872420.1:p.Leu282Ser, XP_016872424.2:p.Leu330Ser, XP_011538670.1:p.Leu96Ser, XP_047281964.1:p.Leu330Ser, XP_047281965.1:p.Leu324Ser, XP_047281966.1:p.Leu274Ser, XP_047281967.1:p.Leu274Ser, NP_001269834.1:p.Leu194Ser, XP_047281968.1:p.Leu274Ser, XP_047281970.1:p.Leu220Ser, NP_001269835.1:p.Leu194Ser, XP_047281973.1:p.Leu274Ser, XP_047281972.1:p.Leu175Ser, XP_047281969.1:p.Leu324Ser, XP_047281971.1:p.Leu268Ser

                  9.

                  rs1471456091 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    10:45626129 (GRCh38)
                    10:46121577 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:45626128:T:C
                    Gene:
                    ZFAND4 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000010.11:g.45626129T>C, NC_000010.10:g.46121577T>C, NM_174890.4:c.1694A>G, NM_174890.3:c.1694A>G, NM_174890.2:c.1694A>G, XM_011540366.3:c.1718A>G, XM_011540366.2:c.1718A>G, XM_011540366.1:c.1718A>G, XM_017016933.3:c.1712A>G, XM_017016933.2:c.1712A>G, XM_017016933.1:c.1712A>G, XM_017016939.3:c.1550A>G, XM_017016939.2:c.1550A>G, XM_017016939.1:c.1550A>G, XM_017016940.3:c.1490A>G, XM_017016940.2:c.1490A>G, XM_017016940.1:c.1490A>G, NM_001128324.2:c.1694A>G, NM_001128324.1:c.1694A>G, XM_017016931.2:c.1736A>G, XM_017016931.1:c.1736A>G, XR_001747259.2:n.2590A>G, XR_001747259.1:n.1726A>G, XM_017016935.2:c.1880A>G, XM_017016935.1:c.1712A>G, XM_011540368.2:c.1178A>G, XM_011540368.1:c.1178A>G, XM_047426008.1:c.1880A>G, XM_047426009.1:c.1862A>G, XM_047426010.1:c.1712A>G, XM_047426011.1:c.1712A>G, NM_001282905.1:c.1472A>G, XM_047426012.1:c.1712A>G, XM_047426014.1:c.1550A>G, NM_001282906.1:c.1472A>G, XM_047426017.1:c.1712A>G, XM_047426016.1:c.1415A>G, XM_047426013.1:c.1862A>G, XM_047426015.1:c.1694A>G, NP_777550.2:p.Asn565Ser, XP_011538668.1:p.Asn573Ser, XP_016872422.1:p.Asn571Ser, XP_016872428.1:p.Asn517Ser, XP_016872429.1:p.Asn497Ser, NP_001121796.1:p.Asn565Ser, XP_016872420.1:p.Asn579Ser, XP_016872424.2:p.Asn627Ser, XP_011538670.1:p.Asn393Ser, XP_047281964.1:p.Asn627Ser, XP_047281965.1:p.Asn621Ser, XP_047281966.1:p.Asn571Ser, XP_047281967.1:p.Asn571Ser, NP_001269834.1:p.Asn491Ser, XP_047281968.1:p.Asn571Ser, XP_047281970.1:p.Asn517Ser, NP_001269835.1:p.Asn491Ser, XP_047281973.1:p.Asn571Ser, XP_047281972.1:p.Asn472Ser, XP_047281969.1:p.Asn621Ser, XP_047281971.1:p.Asn565Ser

                    10.

                    rs1470650161 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      10:45651972 (GRCh38)
                      10:46147420 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:45651971:T:C
                      Gene:
                      ZFAND4 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      HGVS:
                      NC_000010.11:g.45651972T>C, NC_000010.10:g.46147420T>C, NM_174890.4:c.322A>G, NM_174890.3:c.322A>G, NM_174890.2:c.322A>G, XM_017016933.3:c.322A>G, XM_017016933.2:c.322A>G, XM_017016933.1:c.322A>G, XM_017016940.3:c.100A>G, XM_017016940.2:c.100A>G, XM_017016940.1:c.100A>G, NM_001128324.2:c.322A>G, NM_001128324.1:c.322A>G, XR_001747259.2:n.1200A>G, XR_001747259.1:n.336A>G, XM_017016935.2:c.490A>G, XM_017016935.1:c.322A>G, NR_104256.2:n.533A>G, NR_104256.1:n.574A>G, XM_047426008.1:c.490A>G, XM_047426009.1:c.490A>G, XM_047426010.1:c.322A>G, XM_047426011.1:c.322A>G, NM_001282905.1:c.100A>G, XM_047426012.1:c.322A>G, NM_001282906.1:c.100A>G, XM_047426017.1:c.322A>G, XM_047426016.1:c.25A>G, XM_047426013.1:c.490A>G, XM_047426015.1:c.322A>G, XM_047426018.1:c.322A>G, NP_777550.2:p.Arg108Gly, XP_016872422.1:p.Arg108Gly, XP_016872429.1:p.Arg34Gly, NP_001121796.1:p.Arg108Gly, XP_016872424.2:p.Arg164Gly, XP_047281964.1:p.Arg164Gly, XP_047281965.1:p.Arg164Gly, XP_047281966.1:p.Arg108Gly, XP_047281967.1:p.Arg108Gly, NP_001269834.1:p.Arg34Gly, XP_047281968.1:p.Arg108Gly, NP_001269835.1:p.Arg34Gly, XP_047281973.1:p.Arg108Gly, XP_047281972.1:p.Arg9Gly, XP_047281969.1:p.Arg164Gly, XP_047281971.1:p.Arg108Gly, XP_047281974.1:p.Arg108Gly

                      11.

                      rs1468189064 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        10:45618231 (GRCh38)
                        10:46113679 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:45618230:C:T
                        Gene:
                        ZFAND4 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000043/1 (ALFA)
                        T=0.000004/1 (GnomAD_exomes)
                        T=0.000007/1 (GnomAD)
                        T=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000010.11:g.45618231C>T, NC_000010.10:g.46113679C>T, NM_174890.4:c.1957G>A, NM_174890.3:c.1957G>A, NM_174890.2:c.1957G>A, XM_011540366.3:c.1981G>A, XM_011540366.2:c.1981G>A, XM_011540366.1:c.1981G>A, XM_017016933.3:c.1975G>A, XM_017016933.2:c.1975G>A, XM_017016933.1:c.1975G>A, XM_017016939.3:c.1813G>A, XM_017016939.2:c.1813G>A, XM_017016939.1:c.1813G>A, XM_017016940.3:c.1753G>A, XM_017016940.2:c.1753G>A, XM_017016940.1:c.1753G>A, NM_001128324.2:c.1957G>A, NM_001128324.1:c.1957G>A, XM_017016931.2:c.1999G>A, XM_017016931.1:c.1999G>A, XR_001747259.2:n.2939G>A, XR_001747259.1:n.2075G>A, XM_017016935.2:c.2088G>A, XM_017016935.1:c.1920G>A, XM_011540368.2:c.1441G>A, XM_011540368.1:c.1441G>A, XM_047426008.1:c.2143G>A, XM_047426009.1:c.2125G>A, XM_047426010.1:c.1975G>A, XM_047426011.1:c.1975G>A, NM_001282905.1:c.1735G>A, XM_047426012.1:c.1975G>A, XM_047426014.1:c.1813G>A, NM_001282906.1:c.1735G>A, XM_047426017.1:c.1975G>A, XM_047426016.1:c.1678G>A, XM_047426013.1:c.2070G>A, XM_047426015.1:c.1902G>A, XM_047426018.1:c.747G>A, NP_777550.2:p.Val653Met, XP_011538668.1:p.Val661Met, XP_016872422.1:p.Val659Met, XP_016872428.1:p.Val605Met, XP_016872429.1:p.Val585Met, NP_001121796.1:p.Val653Met, XP_016872420.1:p.Val667Met, XP_011538670.1:p.Val481Met, XP_047281964.1:p.Val715Met, XP_047281965.1:p.Val709Met, XP_047281966.1:p.Val659Met, XP_047281967.1:p.Val659Met, NP_001269834.1:p.Val579Met, XP_047281968.1:p.Val659Met, XP_047281970.1:p.Val605Met, NP_001269835.1:p.Val579Met, XP_047281973.1:p.Val659Met, XP_047281972.1:p.Val560Met

                        12.

                        rs1467674404 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          10:45626047 (GRCh38)
                          10:46121495 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:45626046:C:G,NC_000010.11:45626046:C:T
                          Gene:
                          ZFAND4 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
                          Validated:
                          by cluster
                          HGVS:
                          NC_000010.11:g.45626047C>G, NC_000010.11:g.45626047C>T, NC_000010.10:g.46121495C>G, NC_000010.10:g.46121495C>T, NM_174890.4:c.1776G>C, NM_174890.4:c.1776G>A, NM_174890.3:c.1776G>C, NM_174890.3:c.1776G>A, NM_174890.2:c.1776G>C, NM_174890.2:c.1776G>A, XM_011540366.3:c.1800G>C, XM_011540366.3:c.1800G>A, XM_011540366.2:c.1800G>C, XM_011540366.2:c.1800G>A, XM_011540366.1:c.1800G>C, XM_011540366.1:c.1800G>A, XM_017016933.3:c.1794G>C, XM_017016933.3:c.1794G>A, XM_017016933.2:c.1794G>C, XM_017016933.2:c.1794G>A, XM_017016933.1:c.1794G>C, XM_017016933.1:c.1794G>A, XM_017016939.3:c.1632G>C, XM_017016939.3:c.1632G>A, XM_017016939.2:c.1632G>C, XM_017016939.2:c.1632G>A, XM_017016939.1:c.1632G>C, XM_017016939.1:c.1632G>A, XM_017016940.3:c.1572G>C, XM_017016940.3:c.1572G>A, XM_017016940.2:c.1572G>C, XM_017016940.2:c.1572G>A, XM_017016940.1:c.1572G>C, XM_017016940.1:c.1572G>A, NM_001128324.2:c.1776G>C, NM_001128324.2:c.1776G>A, NM_001128324.1:c.1776G>C, NM_001128324.1:c.1776G>A, XM_017016931.2:c.1818G>C, XM_017016931.2:c.1818G>A, XM_017016931.1:c.1818G>C, XM_017016931.1:c.1818G>A, XR_001747259.2:n.2672G>C, XR_001747259.2:n.2672G>A, XR_001747259.1:n.1808G>C, XR_001747259.1:n.1808G>A, XM_017016935.2:c.1962G>C, XM_017016935.2:c.1962G>A, XM_017016935.1:c.1794G>C, XM_017016935.1:c.1794G>A, XM_011540368.2:c.1260G>C, XM_011540368.2:c.1260G>A, XM_011540368.1:c.1260G>C, XM_011540368.1:c.1260G>A, XM_047426008.1:c.1962G>C, XM_047426008.1:c.1962G>A, XM_047426009.1:c.1944G>C, XM_047426009.1:c.1944G>A, XM_047426010.1:c.1794G>C, XM_047426010.1:c.1794G>A, XM_047426011.1:c.1794G>C, XM_047426011.1:c.1794G>A, NM_001282905.1:c.1554G>C, NM_001282905.1:c.1554G>A, XM_047426012.1:c.1794G>C, XM_047426012.1:c.1794G>A, XM_047426014.1:c.1632G>C, XM_047426014.1:c.1632G>A, NM_001282906.1:c.1554G>C, NM_001282906.1:c.1554G>A, XM_047426017.1:c.1794G>C, XM_047426017.1:c.1794G>A, XM_047426016.1:c.1497G>C, XM_047426016.1:c.1497G>A, XM_047426013.1:c.1944G>C, XM_047426013.1:c.1944G>A, XM_047426015.1:c.1776G>C, XM_047426015.1:c.1776G>A, NP_777550.2:p.Gln592His, XP_011538668.1:p.Gln600His, XP_016872422.1:p.Gln598His, XP_016872428.1:p.Gln544His, XP_016872429.1:p.Gln524His, NP_001121796.1:p.Gln592His, XP_016872420.1:p.Gln606His, XP_016872424.2:p.Gln654His, XP_011538670.1:p.Gln420His, XP_047281964.1:p.Gln654His, XP_047281965.1:p.Gln648His, XP_047281966.1:p.Gln598His, XP_047281967.1:p.Gln598His, NP_001269834.1:p.Gln518His, XP_047281968.1:p.Gln598His, XP_047281970.1:p.Gln544His, NP_001269835.1:p.Gln518His, XP_047281973.1:p.Gln598His, XP_047281972.1:p.Gln499His, XP_047281969.1:p.Gln648His, XP_047281971.1:p.Gln592His

                          13.

                          rs1466388108 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C,G [Show Flanks]
                            Chromosome:
                            10:45618145 (GRCh38)
                            10:46113593 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:45618144:T:C,NC_000010.11:45618144:T:G
                            Gene:
                            ZFAND4 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            HGVS:
                            NC_000010.11:g.45618145T>C, NC_000010.11:g.45618145T>G, NC_000010.10:g.46113593T>C, NC_000010.10:g.46113593T>G, NM_174890.4:c.2043A>G, NM_174890.4:c.2043A>C, NM_174890.3:c.2043A>G, NM_174890.3:c.2043A>C, NM_174890.2:c.2043A>G, NM_174890.2:c.2043A>C, XM_011540366.3:c.2067A>G, XM_011540366.3:c.2067A>C, XM_011540366.2:c.2067A>G, XM_011540366.2:c.2067A>C, XM_011540366.1:c.2067A>G, XM_011540366.1:c.2067A>C, XM_017016933.3:c.2061A>G, XM_017016933.3:c.2061A>C, XM_017016933.2:c.2061A>G, XM_017016933.2:c.2061A>C, XM_017016933.1:c.2061A>G, XM_017016933.1:c.2061A>C, XM_017016939.3:c.1899A>G, XM_017016939.3:c.1899A>C, XM_017016939.2:c.1899A>G, XM_017016939.2:c.1899A>C, XM_017016939.1:c.1899A>G, XM_017016939.1:c.1899A>C, XM_017016940.3:c.1839A>G, XM_017016940.3:c.1839A>C, XM_017016940.2:c.1839A>G, XM_017016940.2:c.1839A>C, XM_017016940.1:c.1839A>G, XM_017016940.1:c.1839A>C, NM_001128324.2:c.2043A>G, NM_001128324.2:c.2043A>C, NM_001128324.1:c.2043A>G, NM_001128324.1:c.2043A>C, XM_017016931.2:c.2085A>G, XM_017016931.2:c.2085A>C, XM_017016931.1:c.2085A>G, XM_017016931.1:c.2085A>C, XM_011540368.2:c.1527A>G, XM_011540368.2:c.1527A>C, XM_011540368.1:c.1527A>G, XM_011540368.1:c.1527A>C, XM_047426008.1:c.2229A>G, XM_047426008.1:c.2229A>C, XM_047426009.1:c.2211A>G, XM_047426009.1:c.2211A>C, XM_047426010.1:c.2061A>G, XM_047426010.1:c.2061A>C, XM_047426011.1:c.2061A>G, XM_047426011.1:c.2061A>C, NM_001282905.1:c.1821A>G, NM_001282905.1:c.1821A>C, XM_047426012.1:c.2061A>G, XM_047426012.1:c.2061A>C, XM_047426014.1:c.1899A>G, XM_047426014.1:c.1899A>C, NM_001282906.1:c.1821A>G, NM_001282906.1:c.1821A>C, XM_047426017.1:c.2061A>G, XM_047426017.1:c.2061A>C, XM_047426016.1:c.1764A>G, XM_047426016.1:c.1764A>C, XM_047426018.1:c.*83A>G, XM_047426018.1:c.*83A>C, NP_777550.2:p.Glu681Asp, XP_011538668.1:p.Glu689Asp, XP_016872422.1:p.Glu687Asp, XP_016872428.1:p.Glu633Asp, XP_016872429.1:p.Glu613Asp, NP_001121796.1:p.Glu681Asp, XP_016872420.1:p.Glu695Asp, XP_011538670.1:p.Glu509Asp, XP_047281964.1:p.Glu743Asp, XP_047281965.1:p.Glu737Asp, XP_047281966.1:p.Glu687Asp, XP_047281967.1:p.Glu687Asp, NP_001269834.1:p.Glu607Asp, XP_047281968.1:p.Glu687Asp, XP_047281970.1:p.Glu633Asp, NP_001269835.1:p.Glu607Asp, XP_047281973.1:p.Glu687Asp, XP_047281972.1:p.Glu588Asp

                            14.

                            rs1466094889 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              10:45626070 (GRCh38)
                              10:46121518 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:45626069:T:C
                              Gene:
                              ZFAND4 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000010.11:g.45626070T>C, NC_000010.10:g.46121518T>C, NM_174890.4:c.1753A>G, NM_174890.3:c.1753A>G, NM_174890.2:c.1753A>G, XM_011540366.3:c.1777A>G, XM_011540366.2:c.1777A>G, XM_011540366.1:c.1777A>G, XM_017016933.3:c.1771A>G, XM_017016933.2:c.1771A>G, XM_017016933.1:c.1771A>G, XM_017016939.3:c.1609A>G, XM_017016939.2:c.1609A>G, XM_017016939.1:c.1609A>G, XM_017016940.3:c.1549A>G, XM_017016940.2:c.1549A>G, XM_017016940.1:c.1549A>G, NM_001128324.2:c.1753A>G, NM_001128324.1:c.1753A>G, XM_017016931.2:c.1795A>G, XM_017016931.1:c.1795A>G, XR_001747259.2:n.2649A>G, XR_001747259.1:n.1785A>G, XM_017016935.2:c.1939A>G, XM_017016935.1:c.1771A>G, XM_011540368.2:c.1237A>G, XM_011540368.1:c.1237A>G, XM_047426008.1:c.1939A>G, XM_047426009.1:c.1921A>G, XM_047426010.1:c.1771A>G, XM_047426011.1:c.1771A>G, NM_001282905.1:c.1531A>G, XM_047426012.1:c.1771A>G, XM_047426014.1:c.1609A>G, NM_001282906.1:c.1531A>G, XM_047426017.1:c.1771A>G, XM_047426016.1:c.1474A>G, XM_047426013.1:c.1921A>G, XM_047426015.1:c.1753A>G, NP_777550.2:p.Thr585Ala, XP_011538668.1:p.Thr593Ala, XP_016872422.1:p.Thr591Ala, XP_016872428.1:p.Thr537Ala, XP_016872429.1:p.Thr517Ala, NP_001121796.1:p.Thr585Ala, XP_016872420.1:p.Thr599Ala, XP_016872424.2:p.Thr647Ala, XP_011538670.1:p.Thr413Ala, XP_047281964.1:p.Thr647Ala, XP_047281965.1:p.Thr641Ala, XP_047281966.1:p.Thr591Ala, XP_047281967.1:p.Thr591Ala, NP_001269834.1:p.Thr511Ala, XP_047281968.1:p.Thr591Ala, XP_047281970.1:p.Thr537Ala, NP_001269835.1:p.Thr511Ala, XP_047281973.1:p.Thr591Ala, XP_047281972.1:p.Thr492Ala, XP_047281969.1:p.Thr641Ala, XP_047281971.1:p.Thr585Ala

                              15.

                              rs1465586298 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                10:45626563 (GRCh38)
                                10:46122011 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:45626562:G:C
                                Gene:
                                ZFAND4 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000010.11:g.45626563G>C, NC_000010.10:g.46122011G>C, NM_174890.4:c.1260C>G, NM_174890.3:c.1260C>G, NM_174890.2:c.1260C>G, XM_011540366.3:c.1284C>G, XM_011540366.2:c.1284C>G, XM_011540366.1:c.1284C>G, XM_017016933.3:c.1278C>G, XM_017016933.2:c.1278C>G, XM_017016933.1:c.1278C>G, XM_017016939.3:c.1116C>G, XM_017016939.2:c.1116C>G, XM_017016939.1:c.1116C>G, XM_017016940.3:c.1056C>G, XM_017016940.2:c.1056C>G, XM_017016940.1:c.1056C>G, NM_001128324.2:c.1260C>G, NM_001128324.1:c.1260C>G, XM_017016931.2:c.1302C>G, XM_017016931.1:c.1302C>G, XR_001747259.2:n.2156C>G, XR_001747259.1:n.1292C>G, XM_017016935.2:c.1446C>G, XM_017016935.1:c.1278C>G, XM_011540368.2:c.744C>G, XM_011540368.1:c.744C>G, XM_047426008.1:c.1446C>G, XM_047426009.1:c.1428C>G, XM_047426010.1:c.1278C>G, XM_047426011.1:c.1278C>G, NM_001282905.1:c.1038C>G, XM_047426012.1:c.1278C>G, XM_047426014.1:c.1116C>G, NM_001282906.1:c.1038C>G, XM_047426017.1:c.1278C>G, XM_047426016.1:c.981C>G, XM_047426013.1:c.1428C>G, XM_047426015.1:c.1260C>G, NP_777550.2:p.Cys420Trp, XP_011538668.1:p.Cys428Trp, XP_016872422.1:p.Cys426Trp, XP_016872428.1:p.Cys372Trp, XP_016872429.1:p.Cys352Trp, NP_001121796.1:p.Cys420Trp, XP_016872420.1:p.Cys434Trp, XP_016872424.2:p.Cys482Trp, XP_011538670.1:p.Cys248Trp, XP_047281964.1:p.Cys482Trp, XP_047281965.1:p.Cys476Trp, XP_047281966.1:p.Cys426Trp, XP_047281967.1:p.Cys426Trp, NP_001269834.1:p.Cys346Trp, XP_047281968.1:p.Cys426Trp, XP_047281970.1:p.Cys372Trp, NP_001269835.1:p.Cys346Trp, XP_047281973.1:p.Cys426Trp, XP_047281972.1:p.Cys327Trp, XP_047281969.1:p.Cys476Trp, XP_047281971.1:p.Cys420Trp

                                16.

                                rs1465019972 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A,C [Show Flanks]
                                  Chromosome:
                                  10:45618215 (GRCh38)
                                  10:46113663 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:45618214:T:A,NC_000010.11:45618214:T:C
                                  Gene:
                                  ZFAND4 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000010.11:g.45618215T>A, NC_000010.11:g.45618215T>C, NC_000010.10:g.46113663T>A, NC_000010.10:g.46113663T>C, NM_174890.4:c.1973A>T, NM_174890.4:c.1973A>G, NM_174890.3:c.1973A>T, NM_174890.3:c.1973A>G, NM_174890.2:c.1973A>T, NM_174890.2:c.1973A>G, XM_011540366.3:c.1997A>T, XM_011540366.3:c.1997A>G, XM_011540366.2:c.1997A>T, XM_011540366.2:c.1997A>G, XM_011540366.1:c.1997A>T, XM_011540366.1:c.1997A>G, XM_017016933.3:c.1991A>T, XM_017016933.3:c.1991A>G, XM_017016933.2:c.1991A>T, XM_017016933.2:c.1991A>G, XM_017016933.1:c.1991A>T, XM_017016933.1:c.1991A>G, XM_017016939.3:c.1829A>T, XM_017016939.3:c.1829A>G, XM_017016939.2:c.1829A>T, XM_017016939.2:c.1829A>G, XM_017016939.1:c.1829A>T, XM_017016939.1:c.1829A>G, XM_017016940.3:c.1769A>T, XM_017016940.3:c.1769A>G, XM_017016940.2:c.1769A>T, XM_017016940.2:c.1769A>G, XM_017016940.1:c.1769A>T, XM_017016940.1:c.1769A>G, NM_001128324.2:c.1973A>T, NM_001128324.2:c.1973A>G, NM_001128324.1:c.1973A>T, NM_001128324.1:c.1973A>G, XM_017016931.2:c.2015A>T, XM_017016931.2:c.2015A>G, XM_017016931.1:c.2015A>T, XM_017016931.1:c.2015A>G, XR_001747259.2:n.2955A>T, XR_001747259.2:n.2955A>G, XR_001747259.1:n.2091A>T, XR_001747259.1:n.2091A>G, XM_017016935.2:c.*13A>T, XM_017016935.2:c.*13A>G, XM_017016935.1:c.*13A>T, XM_017016935.1:c.*13A>G, XM_011540368.2:c.1457A>T, XM_011540368.2:c.1457A>G, XM_011540368.1:c.1457A>T, XM_011540368.1:c.1457A>G, XM_047426008.1:c.2159A>T, XM_047426008.1:c.2159A>G, XM_047426009.1:c.2141A>T, XM_047426009.1:c.2141A>G, XM_047426010.1:c.1991A>T, XM_047426010.1:c.1991A>G, XM_047426011.1:c.1991A>T, XM_047426011.1:c.1991A>G, NM_001282905.1:c.1751A>T, NM_001282905.1:c.1751A>G, XM_047426012.1:c.1991A>T, XM_047426012.1:c.1991A>G, XM_047426014.1:c.1829A>T, XM_047426014.1:c.1829A>G, NM_001282906.1:c.1751A>T, NM_001282906.1:c.1751A>G, XM_047426017.1:c.1991A>T, XM_047426017.1:c.1991A>G, XM_047426016.1:c.1694A>T, XM_047426016.1:c.1694A>G, XM_047426013.1:c.*13A>T, XM_047426013.1:c.*13A>G, XM_047426015.1:c.*13A>T, XM_047426015.1:c.*13A>G, XM_047426018.1:c.*13A>T, XM_047426018.1:c.*13A>G, NP_777550.2:p.Gln658Leu, NP_777550.2:p.Gln658Arg, XP_011538668.1:p.Gln666Leu, XP_011538668.1:p.Gln666Arg, XP_016872422.1:p.Gln664Leu, XP_016872422.1:p.Gln664Arg, XP_016872428.1:p.Gln610Leu, XP_016872428.1:p.Gln610Arg, XP_016872429.1:p.Gln590Leu, XP_016872429.1:p.Gln590Arg, NP_001121796.1:p.Gln658Leu, NP_001121796.1:p.Gln658Arg, XP_016872420.1:p.Gln672Leu, XP_016872420.1:p.Gln672Arg, XP_011538670.1:p.Gln486Leu, XP_011538670.1:p.Gln486Arg, XP_047281964.1:p.Gln720Leu, XP_047281964.1:p.Gln720Arg, XP_047281965.1:p.Gln714Leu, XP_047281965.1:p.Gln714Arg, XP_047281966.1:p.Gln664Leu, XP_047281966.1:p.Gln664Arg, XP_047281967.1:p.Gln664Leu, XP_047281967.1:p.Gln664Arg, NP_001269834.1:p.Gln584Leu, NP_001269834.1:p.Gln584Arg, XP_047281968.1:p.Gln664Leu, XP_047281968.1:p.Gln664Arg, XP_047281970.1:p.Gln610Leu, XP_047281970.1:p.Gln610Arg, NP_001269835.1:p.Gln584Leu, NP_001269835.1:p.Gln584Arg, XP_047281973.1:p.Gln664Leu, XP_047281973.1:p.Gln664Arg, XP_047281972.1:p.Gln565Leu, XP_047281972.1:p.Gln565Arg

                                  17.

                                  rs1462696035 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    10:45625957 (GRCh38)
                                    10:46121405 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:45625956:A:C
                                    Gene:
                                    ZFAND4 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000043/1 (ALFA)
                                    C=0.000023/6 (TOPMED)
                                    C=0.000036/5 (GnomAD)
                                    HGVS:
                                    NC_000010.11:g.45625957A>C, NC_000010.10:g.46121405A>C, NM_174890.4:c.1866T>G, NM_174890.3:c.1866T>G, NM_174890.2:c.1866T>G, XM_011540366.3:c.1890T>G, XM_011540366.2:c.1890T>G, XM_011540366.1:c.1890T>G, XM_017016933.3:c.1884T>G, XM_017016933.2:c.1884T>G, XM_017016933.1:c.1884T>G, XM_017016939.3:c.1722T>G, XM_017016939.2:c.1722T>G, XM_017016939.1:c.1722T>G, XM_017016940.3:c.1662T>G, XM_017016940.2:c.1662T>G, XM_017016940.1:c.1662T>G, NM_001128324.2:c.1866T>G, NM_001128324.1:c.1866T>G, XM_017016931.2:c.1908T>G, XM_017016931.1:c.1908T>G, XR_001747259.2:n.2762T>G, XR_001747259.1:n.1898T>G, XM_017016935.2:c.2052T>G, XM_017016935.1:c.1884T>G, XM_011540368.2:c.1350T>G, XM_011540368.1:c.1350T>G, XM_047426008.1:c.2052T>G, XM_047426009.1:c.2034T>G, XM_047426010.1:c.1884T>G, XM_047426011.1:c.1884T>G, NM_001282905.1:c.1644T>G, XM_047426012.1:c.1884T>G, XM_047426014.1:c.1722T>G, NM_001282906.1:c.1644T>G, XM_047426017.1:c.1884T>G, XM_047426016.1:c.1587T>G, XM_047426013.1:c.2034T>G, XM_047426015.1:c.1866T>G

                                    18.

                                    rs1460548713 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      10:45626305 (GRCh38)
                                      10:46121753 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:45626304:A:G
                                      Gene:
                                      ZFAND4 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_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_000010.11:g.45626305A>G, NC_000010.10:g.46121753A>G, NM_174890.4:c.1518T>C, NM_174890.3:c.1518T>C, NM_174890.2:c.1518T>C, XM_011540366.3:c.1542T>C, XM_011540366.2:c.1542T>C, XM_011540366.1:c.1542T>C, XM_017016933.3:c.1536T>C, XM_017016933.2:c.1536T>C, XM_017016933.1:c.1536T>C, XM_017016939.3:c.1374T>C, XM_017016939.2:c.1374T>C, XM_017016939.1:c.1374T>C, XM_017016940.3:c.1314T>C, XM_017016940.2:c.1314T>C, XM_017016940.1:c.1314T>C, NM_001128324.2:c.1518T>C, NM_001128324.1:c.1518T>C, XM_017016931.2:c.1560T>C, XM_017016931.1:c.1560T>C, XR_001747259.2:n.2414T>C, XR_001747259.1:n.1550T>C, XM_017016935.2:c.1704T>C, XM_017016935.1:c.1536T>C, XM_011540368.2:c.1002T>C, XM_011540368.1:c.1002T>C, XM_047426008.1:c.1704T>C, XM_047426009.1:c.1686T>C, XM_047426010.1:c.1536T>C, XM_047426011.1:c.1536T>C, NM_001282905.1:c.1296T>C, XM_047426012.1:c.1536T>C, XM_047426014.1:c.1374T>C, NM_001282906.1:c.1296T>C, XM_047426017.1:c.1536T>C, XM_047426016.1:c.1239T>C, XM_047426013.1:c.1686T>C, XM_047426015.1:c.1518T>C

                                      19.

                                      rs1459308452 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        10:45616489 (GRCh38)
                                        10:46111937 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:45616488:A:G
                                        Gene:
                                        ZFAND4 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0.0001/1 (ALFA)
                                        HGVS:
                                        NC_000010.11:g.45616489A>G, NC_000010.10:g.46111937A>G, NM_174890.4:c.2131T>C, NM_174890.3:c.2131T>C, NM_174890.2:c.2131T>C, XM_011540366.3:c.2155T>C, XM_011540366.2:c.2155T>C, XM_011540366.1:c.2155T>C, XM_017016933.3:c.2149T>C, XM_017016933.2:c.2149T>C, XM_017016933.1:c.2149T>C, XM_017016939.3:c.1987T>C, XM_017016939.2:c.1987T>C, XM_017016939.1:c.1987T>C, XM_017016940.3:c.1927T>C, XM_017016940.2:c.1927T>C, XM_017016940.1:c.1927T>C, NM_001128324.2:c.2131T>C, NM_001128324.1:c.2131T>C, XM_017016931.2:c.2173T>C, XM_017016931.1:c.2173T>C, XM_011540368.2:c.1615T>C, XM_011540368.1:c.1615T>C, XM_047426008.1:c.2317T>C, XM_047426009.1:c.2299T>C, XM_047426010.1:c.2149T>C, XM_047426011.1:c.2149T>C, NM_001282905.1:c.1909T>C, XM_047426012.1:c.2149T>C, XM_047426014.1:c.1987T>C, NM_001282906.1:c.1909T>C, XM_047426017.1:c.2149T>C, XM_047426016.1:c.1852T>C, NP_777550.2:p.Tyr711His, XP_011538668.1:p.Tyr719His, XP_016872422.1:p.Tyr717His, XP_016872428.1:p.Tyr663His, XP_016872429.1:p.Tyr643His, NP_001121796.1:p.Tyr711His, XP_016872420.1:p.Tyr725His, XP_011538670.1:p.Tyr539His, XP_047281964.1:p.Tyr773His, XP_047281965.1:p.Tyr767His, XP_047281966.1:p.Tyr717His, XP_047281967.1:p.Tyr717His, NP_001269834.1:p.Tyr637His, XP_047281968.1:p.Tyr717His, XP_047281970.1:p.Tyr663His, NP_001269835.1:p.Tyr637His, XP_047281973.1:p.Tyr717His, XP_047281972.1:p.Tyr618His

                                        20.

                                        rs1458169673 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          10:45626614 (GRCh38)
                                          10:46122062 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:45626613:T:C
                                          Gene:
                                          ZFAND4 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000010.11:g.45626614T>C, NC_000010.10:g.46122062T>C, NM_174890.4:c.1209A>G, NM_174890.3:c.1209A>G, NM_174890.2:c.1209A>G, XM_011540366.3:c.1233A>G, XM_011540366.2:c.1233A>G, XM_011540366.1:c.1233A>G, XM_017016933.3:c.1227A>G, XM_017016933.2:c.1227A>G, XM_017016933.1:c.1227A>G, XM_017016939.3:c.1065A>G, XM_017016939.2:c.1065A>G, XM_017016939.1:c.1065A>G, XM_017016940.3:c.1005A>G, XM_017016940.2:c.1005A>G, XM_017016940.1:c.1005A>G, NM_001128324.2:c.1209A>G, NM_001128324.1:c.1209A>G, XM_017016931.2:c.1251A>G, XM_017016931.1:c.1251A>G, XR_001747259.2:n.2105A>G, XR_001747259.1:n.1241A>G, XM_017016935.2:c.1395A>G, XM_017016935.1:c.1227A>G, XM_011540368.2:c.693A>G, XM_011540368.1:c.693A>G, XM_047426008.1:c.1395A>G, XM_047426009.1:c.1377A>G, XM_047426010.1:c.1227A>G, XM_047426011.1:c.1227A>G, NM_001282905.1:c.987A>G, XM_047426012.1:c.1227A>G, XM_047426014.1:c.1065A>G, NM_001282906.1:c.987A>G, XM_047426017.1:c.1227A>G, XM_047426016.1:c.930A>G, XM_047426013.1:c.1377A>G, XM_047426015.1:c.1209A>G

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