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Items: 1 to 20 of 992

1.

rs1490265310 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    10:45616210 (GRCh38)
    10:46111658 (GRCh37)
    Canonical SPDI:
    NC_000010.11:45616209:T:G
    Gene:
    ZFAND4 (Varview)
    Functional Consequence:
    3_prime_UTR_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000008/2 (TOPMED)
    HGVS:
    NC_000010.11:g.45616210T>G, NC_000010.10:g.46111658T>G, NM_174890.4:c.*226A>C, NM_174890.3:c.*226A>C, NM_174890.2:c.*226A>C, XM_011540366.3:c.*226A>C, XM_011540366.2:c.*226A>C, XM_011540366.1:c.*226A>C, XM_017016933.3:c.*226A>C, XM_017016933.2:c.*226A>C, XM_017016933.1:c.*226A>C, XM_017016939.3:c.*226A>C, XM_017016939.2:c.*226A>C, XM_017016939.1:c.*226A>C, XM_017016940.3:c.*226A>C, XM_017016940.2:c.*226A>C, XM_017016940.1:c.*226A>C, NM_001128324.2:c.*226A>C, NM_001128324.1:c.*226A>C, XM_017016931.2:c.*226A>C, XM_017016931.1:c.*226A>C, XM_011540368.2:c.*226A>C, XM_011540368.1:c.*226A>C, XM_047426008.1:c.*226A>C, XM_047426009.1:c.*226A>C, XM_047426010.1:c.*226A>C, XM_047426011.1:c.*226A>C, NM_001282905.1:c.*226A>C, XM_047426012.1:c.*226A>C, XM_047426014.1:c.*226A>C, NM_001282906.1:c.*226A>C, XM_047426017.1:c.*226A>C, XM_047426016.1:c.*226A>C

    2.

    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

      3.

      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

        4.

        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

          5.

          rs1487163685 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            10:45615795 (GRCh38)
            10:46111243 (GRCh37)
            Canonical SPDI:
            NC_000010.11:45615794:C:T
            Gene:
            ZFAND4 (Varview)
            Functional Consequence:
            3_prime_UTR_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000014/2 (GnomAD)
            T=0.000015/4 (TOPMED)
            HGVS:
            NC_000010.11:g.45615795C>T, NC_000010.10:g.46111243C>T, NM_174890.4:c.*641G>A, NM_174890.3:c.*641G>A, NM_174890.2:c.*641G>A, XM_011540366.3:c.*641G>A, XM_011540366.2:c.*641G>A, XM_011540366.1:c.*641G>A, XM_017016933.3:c.*641G>A, XM_017016933.2:c.*641G>A, XM_017016933.1:c.*641G>A, XM_017016939.3:c.*641G>A, XM_017016939.2:c.*641G>A, XM_017016939.1:c.*641G>A, XM_017016940.3:c.*641G>A, XM_017016940.2:c.*641G>A, XM_017016940.1:c.*641G>A, NM_001128324.2:c.*641G>A, NM_001128324.1:c.*641G>A, XM_017016931.2:c.*641G>A, XM_017016931.1:c.*641G>A, XM_011540368.2:c.*641G>A, XM_011540368.1:c.*641G>A, XM_047426008.1:c.*641G>A, XM_047426009.1:c.*641G>A, XM_047426010.1:c.*641G>A, XM_047426011.1:c.*641G>A, NM_001282905.1:c.*641G>A, XM_047426012.1:c.*641G>A, XM_047426014.1:c.*641G>A, NM_001282906.1:c.*641G>A, XM_047426017.1:c.*641G>A, XM_047426016.1:c.*641G>A

            6.

            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

              7.

              rs1485290107 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                10:45663563 (GRCh38)
                10:46159011 (GRCh37)
                Canonical SPDI:
                NC_000010.11:45663562:C:T
                Gene:
                ZFAND4 (Varview)
                Functional Consequence:
                5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000010.11:g.45663563C>T, NC_000010.10:g.46159011C>T, NM_174890.4:c.163G>A, NM_174890.3:c.163G>A, NM_174890.2:c.163G>A, XM_011540366.3:c.331G>A, XM_011540366.2:c.331G>A, XM_011540366.1:c.331G>A, XM_017016933.3:c.163G>A, XM_017016933.2:c.163G>A, XM_017016933.1:c.163G>A, XM_017016939.3:c.163G>A, XM_017016939.2:c.163G>A, XM_017016939.1:c.163G>A, XM_017016940.3:c.-162G>A, XM_017016940.2:c.-162G>A, XM_017016940.1:c.-162G>A, NM_001128324.2:c.163G>A, NM_001128324.1:c.163G>A, XM_017016931.2:c.331G>A, XM_017016931.1:c.331G>A, XR_001747259.2:n.1041G>A, XR_001747259.1:n.177G>A, XM_017016935.2:c.331G>A, XM_017016935.1:c.163G>A, NR_104256.2:n.374G>A, NR_104256.1:n.415G>A, XM_047426008.1:c.331G>A, XM_047426009.1:c.331G>A, XM_047426010.1:c.163G>A, XM_047426011.1:c.163G>A, NM_001282905.1:c.-162G>A, XM_047426012.1:c.163G>A, XM_047426014.1:c.163G>A, NM_001282906.1:c.-162G>A, XM_047426017.1:c.163G>A, XM_047426016.1:c.-59G>A, XM_047426013.1:c.331G>A, XM_047426015.1:c.163G>A, XM_047426018.1:c.163G>A, NP_777550.2:p.Ala55Thr, XP_011538668.1:p.Ala111Thr, XP_016872422.1:p.Ala55Thr, XP_016872428.1:p.Ala55Thr, NP_001121796.1:p.Ala55Thr, XP_016872420.1:p.Ala111Thr, XP_016872424.2:p.Ala111Thr, XP_047281964.1:p.Ala111Thr, XP_047281965.1:p.Ala111Thr, XP_047281966.1:p.Ala55Thr, XP_047281967.1:p.Ala55Thr, XP_047281968.1:p.Ala55Thr, XP_047281970.1:p.Ala55Thr, XP_047281973.1:p.Ala55Thr, XP_047281969.1:p.Ala111Thr, XP_047281971.1:p.Ala55Thr, XP_047281974.1:p.Ala55Thr

                8.

                rs1484471377 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  10:45653051 (GRCh38)
                  10:46148499 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:45653050:T:C
                  Gene:
                  ZFAND4 (Varview)
                  Functional Consequence:
                  5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,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.45653051T>C, NC_000010.10:g.46148499T>C, NM_174890.4:c.193A>G, NM_174890.3:c.193A>G, NM_174890.2:c.193A>G, XM_017016933.3:c.193A>G, XM_017016933.2:c.193A>G, XM_017016933.1:c.193A>G, XM_017016940.3:c.-30A>G, XM_017016940.2:c.-30A>G, XM_017016940.1:c.-30A>G, NM_001128324.2:c.193A>G, NM_001128324.1:c.193A>G, XR_001747259.2:n.1071A>G, XR_001747259.1:n.207A>G, XM_017016935.2:c.361A>G, XM_017016935.1:c.193A>G, NR_104256.2:n.404A>G, NR_104256.1:n.445A>G, XM_047426008.1:c.361A>G, XM_047426009.1:c.361A>G, XM_047426010.1:c.193A>G, XM_047426011.1:c.193A>G, NM_001282905.1:c.-30A>G, XM_047426012.1:c.193A>G, NM_001282906.1:c.-30A>G, XM_047426017.1:c.193A>G, XM_047426013.1:c.361A>G, XM_047426015.1:c.193A>G, XM_047426018.1:c.193A>G, NP_777550.2:p.Ile65Val, XP_016872422.1:p.Ile65Val, NP_001121796.1:p.Ile65Val, XP_016872424.2:p.Ile121Val, XP_047281964.1:p.Ile121Val, XP_047281965.1:p.Ile121Val, XP_047281966.1:p.Ile65Val, XP_047281967.1:p.Ile65Val, XP_047281968.1:p.Ile65Val, XP_047281973.1:p.Ile65Val, XP_047281969.1:p.Ile121Val, XP_047281971.1:p.Ile65Val, XP_047281974.1:p.Ile65Val

                  9.

                  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

                    10.

                    rs1480914998 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      GTCCCATG>- [Show Flanks]
                      Chromosome:
                      10:45663677 (GRCh38)
                      10:46159125 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:45663673:ATGGTCCCATG:ATG
                      Gene:
                      ZFAND4 (Varview)
                      Functional Consequence:
                      5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,frameshift_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      ATG=0./0 (ALFA)
                      -=0.000007/1 (GnomAD)
                      -=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000010.11:g.45663677_45663684del, NC_000010.10:g.46159125_46159132del, NM_174890.4:c.45_52del, NM_174890.3:c.45_52del, NM_174890.2:c.45_52del, XM_011540366.3:c.213_220del, XM_011540366.2:c.213_220del, XM_011540366.1:c.213_220del, XM_017016933.3:c.45_52del, XM_017016933.2:c.45_52del, XM_017016933.1:c.45_52del, XM_017016939.3:c.45_52del, XM_017016939.2:c.45_52del, XM_017016939.1:c.45_52del, NM_001128324.2:c.45_52del, NM_001128324.1:c.45_52del, XM_017016931.2:c.213_220del, XM_017016931.1:c.213_220del, XR_001747259.2:n.923_930del, XR_001747259.1:n.59_66del, XM_017016935.2:c.213_220del, XM_017016935.1:c.45_52del, NR_104256.2:n.256_263del, NR_104256.1:n.297_304del, XM_047426008.1:c.213_220del, XM_047426009.1:c.213_220del, XM_047426010.1:c.45_52del, XM_047426011.1:c.45_52del, NM_001282905.1:c.-280_-273del, XM_047426012.1:c.45_52del, XM_047426014.1:c.45_52del, NM_001282906.1:c.-280_-273del, XM_047426017.1:c.45_52del, XM_047426013.1:c.213_220del, XM_047426015.1:c.45_52del, XM_047426018.1:c.45_52del, NP_777550.2:p.Met15fs, XP_011538668.1:p.Met71fs, XP_016872422.1:p.Met15fs, XP_016872428.1:p.Met15fs, NP_001121796.1:p.Met15fs, XP_016872420.1:p.Met71fs, XP_016872424.2:p.Met71fs, XP_047281964.1:p.Met71fs, XP_047281965.1:p.Met71fs, XP_047281966.1:p.Met15fs, XP_047281967.1:p.Met15fs, XP_047281968.1:p.Met15fs, XP_047281970.1:p.Met15fs, XP_047281973.1:p.Met15fs, XP_047281969.1:p.Met71fs, XP_047281971.1:p.Met15fs, XP_047281974.1:p.Met15fs

                      11.

                      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

                        12.

                        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

                          13.

                          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

                            14.

                            rs1476726233 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              CATAATGAAATT>- [Show Flanks]
                              Chromosome:
                              10:45615593 (GRCh38)
                              10:46111041 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:45615581:ATAATGAAATTCATAATGAAATT:ATAATGAAATT
                              Gene:
                              ZFAND4 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              ATAATGAAATT=0./0 (ALFA)
                              -=0.000043/6 (GnomAD)
                              -=0.000049/13 (TOPMED)
                              HGVS:
                              NC_000010.11:g.45615593_45615604del, NC_000010.10:g.46111041_46111052del, NM_174890.4:c.*843_*854del, NM_174890.3:c.*843_*854del, NM_174890.2:c.*845_*846insTTTCATTAT, NM_174890.2:c.*843_*845del, XM_011540366.3:c.*843_*854del, XM_011540366.2:c.*843_*854del, XM_011540366.1:c.*843_*854del, XM_017016933.3:c.*843_*854del, XM_017016933.2:c.*843_*854del, XM_017016933.1:c.*843_*854del, XM_017016939.3:c.*843_*854del, XM_017016939.2:c.*843_*854del, XM_017016939.1:c.*843_*854del, XM_017016940.3:c.*843_*854del, XM_017016940.2:c.*843_*854del, XM_017016940.1:c.*843_*854del, NM_001128324.2:c.*843_*854del, NM_001128324.1:c.*845_*846insTTTCATTAT, NM_001128324.1:c.*843_*845del, XM_017016931.2:c.*843_*854del, XM_017016931.1:c.*843_*854del, XM_011540368.2:c.*843_*854del, XM_011540368.1:c.*843_*854del, XM_047426008.1:c.*843_*854del, XM_047426009.1:c.*843_*854del, XM_047426010.1:c.*843_*854del, XM_047426011.1:c.*843_*854del, NM_001282905.1:c.*843_*854del, XM_047426012.1:c.*843_*854del, XM_047426014.1:c.*843_*854del, NM_001282906.1:c.*843_*854del, XM_047426017.1:c.*843_*854del, XM_047426016.1:c.*843_*854del

                              15.

                              rs1473997388 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                C>- [Show Flanks]
                                Chromosome:
                                10:45672811 (GRCh38)
                                10:46168259 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:45672810:CC:C
                                Gene:
                                ZFAND4 (Varview)
                                Functional Consequence:
                                5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                CC=0./0 (ALFA)
                                -=0.000071/10 (GnomAD)
                                -=0.000076/20 (TOPMED)
                                HGVS:

                                16.

                                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

                                  17.

                                  rs1470890177 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    T>- [Show Flanks]
                                    Chromosome:
                                    10:45615958 (GRCh38)
                                    10:46111406 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:45615957:TTTTT:TTTT
                                    Gene:
                                    ZFAND4 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TTTT=0./0 (ALFA)
                                    -=0.000007/1 (GnomAD)
                                    -=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000010.11:g.45615962del, NC_000010.10:g.46111410del, NM_174890.4:c.*478del, NM_174890.3:c.*478del, NM_174890.2:c.*478del, XM_011540366.3:c.*478del, XM_011540366.2:c.*478del, XM_011540366.1:c.*478del, XM_017016933.3:c.*478del, XM_017016933.2:c.*478del, XM_017016933.1:c.*478del, XM_017016939.3:c.*478del, XM_017016939.2:c.*478del, XM_017016939.1:c.*478del, XM_017016940.3:c.*478del, XM_017016940.2:c.*478del, XM_017016940.1:c.*478del, NM_001128324.2:c.*478del, NM_001128324.1:c.*478del, XM_017016931.2:c.*478del, XM_017016931.1:c.*478del, XM_011540368.2:c.*478del, XM_011540368.1:c.*478del, XM_047426008.1:c.*478del, XM_047426009.1:c.*478del, XM_047426010.1:c.*478del, XM_047426011.1:c.*478del, NM_001282905.1:c.*478del, XM_047426012.1:c.*478del, XM_047426014.1:c.*478del, NM_001282906.1:c.*478del, XM_047426017.1:c.*478del, XM_047426016.1:c.*478del

                                    18.

                                    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

                                      19.

                                      rs1470216453 [Homo sapiens]
                                        Variant type:
                                        SNV:
                                        Alleles:
                                        T>C
                                        Chromosome:
                                        no mapping
                                        Canonical SPDI:

                                        20.

                                        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

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