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Items: 1 to 20 of 338

1.

rs1489449240 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    2:97084220 (GRCh38)
    2:97749957 (GRCh37)
    Canonical SPDI:
    NC_000002.12:97084219:T:C
    Gene:
    FAHD2B (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.000056/2 (ALFA)
    C=0.000007/1 (GnomAD)
    C=0.000008/2 (GnomAD_exomes)
    C=0.000015/4 (TOPMED)
    HGVS:
    NC_000002.12:g.97084220T>C, NC_000002.11:g.97749957T>C, NW_025791765.1:g.58918T>C, XM_011510747.4:c.743A>G, XM_011510747.3:c.743A>G, XM_011510747.2:c.743A>G, XM_011510747.1:c.743A>G, XM_011510746.3:c.743A>G, XM_011510746.2:c.743A>G, XM_011510746.1:c.743A>G, XM_011510745.3:c.743A>G, XM_011510745.2:c.743A>G, XM_011510745.1:c.743A>G, XM_011510748.3:c.743A>G, XM_011510748.2:c.743A>G, XM_011510748.1:c.743A>G, NM_199336.3:c.743A>G, NM_199336.2:c.743A>G, NM_199336.1:c.743A>G, XM_011510750.3:c.*43A>G, XM_011510750.2:c.*43A>G, XM_011510750.1:c.*43A>G, XM_017003471.2:c.743A>G, XM_017003471.1:c.743A>G, XM_024452730.2:c.743A>G, XM_024452730.1:c.743A>G, NM_001320848.2:c.743A>G, NM_001320848.1:c.743A>G, XM_047443515.1:c.*43A>G, XM_047443517.1:c.*43A>G, XM_047443516.1:c.*43A>G, XP_011509049.1:p.Asn248Ser, XP_011509048.1:p.Asn248Ser, XP_011509047.1:p.Asn248Ser, XP_011509050.1:p.Asn248Ser, NP_955368.1:p.Asn248Ser, XP_016858960.1:p.Asn248Ser, XP_024308498.1:p.Asn248Ser, NP_001307777.1:p.Asn248Ser

    2.

    rs1488835996 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      2:97090222 (GRCh38)
      2:97755959 (GRCh37)
      Canonical SPDI:
      NC_000002.12:97090221:C:T
      Gene:
      FAHD2B (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      T=0.000005/1 (GnomAD_exomes)
      HGVS:
      NC_000002.12:g.97090222C>T, NC_000002.11:g.97755959C>T, NW_025791765.1:g.64920C>T, XM_011510747.4:c.349G>A, XM_011510747.3:c.349G>A, XM_011510747.2:c.349G>A, XM_011510747.1:c.349G>A, XM_011510746.3:c.349G>A, XM_011510746.2:c.349G>A, XM_011510746.1:c.349G>A, XM_011510745.3:c.349G>A, XM_011510745.2:c.349G>A, XM_011510745.1:c.349G>A, XM_011510748.3:c.349G>A, XM_011510748.2:c.349G>A, XM_011510748.1:c.349G>A, NM_199336.3:c.349G>A, NM_199336.2:c.349G>A, NM_199336.1:c.349G>A, XM_011510750.3:c.349G>A, XM_011510750.2:c.349G>A, XM_011510750.1:c.349G>A, XM_017003471.2:c.349G>A, XM_017003471.1:c.349G>A, XM_024452730.2:c.349G>A, XM_024452730.1:c.349G>A, NM_001320848.2:c.349G>A, NM_001320848.1:c.349G>A, NM_001320849.2:c.349G>A, NM_001320849.1:c.349G>A, XM_047443515.1:c.349G>A, XM_047443516.1:c.349G>A, XM_047443514.1:c.349G>A, XM_047443517.1:c.349G>A, XP_011509049.1:p.Asp117Asn, XP_011509048.1:p.Asp117Asn, XP_011509047.1:p.Asp117Asn, XP_011509050.1:p.Asp117Asn, NP_955368.1:p.Asp117Asn, XP_011509052.1:p.Asp117Asn, XP_016858960.1:p.Asp117Asn, XP_024308498.1:p.Asp117Asn, NP_001307777.1:p.Asp117Asn, NP_001307778.1:p.Asp117Asn, XP_047299471.1:p.Asp117Asn, XP_047299472.1:p.Asp117Asn, XP_047299470.1:p.Asp117Asn, XP_047299473.1:p.Asp117Asn

      3.

      rs1488446858 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        2:97091484 (GRCh38)
        2:97757221 (GRCh37)
        Canonical SPDI:
        NC_000002.12:97091483:C:A
        Gene:
        FAHD2B (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000002.12:g.97091484C>A, NC_000002.11:g.97757221C>A, NW_025791765.1:g.66182C>A, XM_011510747.4:c.223G>T, XM_011510747.3:c.223G>T, XM_011510747.2:c.223G>T, XM_011510747.1:c.223G>T, XM_011510746.3:c.223G>T, XM_011510746.2:c.223G>T, XM_011510746.1:c.223G>T, XM_011510745.3:c.223G>T, XM_011510745.2:c.223G>T, XM_011510745.1:c.223G>T, XM_011510748.3:c.223G>T, XM_011510748.2:c.223G>T, XM_011510748.1:c.223G>T, NM_199336.3:c.223G>T, NM_199336.2:c.223G>T, NM_199336.1:c.223G>T, XM_011510750.3:c.223G>T, XM_011510750.2:c.223G>T, XM_011510750.1:c.223G>T, XM_017003471.2:c.223G>T, XM_017003471.1:c.223G>T, XM_024452730.2:c.223G>T, XM_024452730.1:c.223G>T, NM_001320848.2:c.223G>T, NM_001320848.1:c.223G>T, NM_001320849.2:c.223G>T, NM_001320849.1:c.223G>T, XM_047443515.1:c.223G>T, XM_047443516.1:c.223G>T, XM_047443514.1:c.223G>T, XM_047443517.1:c.223G>T, XP_011509049.1:p.Ala75Ser, XP_011509048.1:p.Ala75Ser, XP_011509047.1:p.Ala75Ser, XP_011509050.1:p.Ala75Ser, NP_955368.1:p.Ala75Ser, XP_011509052.1:p.Ala75Ser, XP_016858960.1:p.Ala75Ser, XP_024308498.1:p.Ala75Ser, NP_001307777.1:p.Ala75Ser, NP_001307778.1:p.Ala75Ser, XP_047299471.1:p.Ala75Ser, XP_047299472.1:p.Ala75Ser, XP_047299470.1:p.Ala75Ser, XP_047299473.1:p.Ala75Ser

        4.

        rs1479991571 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          2:97083782 (GRCh38)
          2:97749519 (GRCh37)
          Canonical SPDI:
          NC_000002.12:97083781:T:G
          Gene:
          FAHD2B (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:

          5.

          rs1473645550 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            2:97085710 (GRCh38)
            2:97751447 (GRCh37)
            Canonical SPDI:
            NC_000002.12:97085709:T:C
            Gene:
            FAHD2B (Varview)
            Functional Consequence:
            missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,intron_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000002.12:g.97085710T>C, NC_000002.11:g.97751447T>C, NW_025791765.1:g.60408T>C, XM_011510747.4:c.674A>G, XM_011510747.3:c.674A>G, XM_011510747.2:c.674A>G, XM_011510747.1:c.674A>G, XM_011510746.3:c.674A>G, XM_011510746.2:c.674A>G, XM_011510746.1:c.674A>G, XM_011510745.3:c.674A>G, XM_011510745.2:c.674A>G, XM_011510745.1:c.674A>G, XM_011510748.3:c.674A>G, XM_011510748.2:c.674A>G, XM_011510748.1:c.674A>G, NM_199336.3:c.674A>G, NM_199336.2:c.674A>G, NM_199336.1:c.674A>G, XM_017003471.2:c.674A>G, XM_017003471.1:c.674A>G, XM_024452730.2:c.674A>G, XM_024452730.1:c.674A>G, NM_001320848.2:c.674A>G, NM_001320848.1:c.674A>G, XP_011509049.1:p.Asp225Gly, XP_011509048.1:p.Asp225Gly, XP_011509047.1:p.Asp225Gly, XP_011509050.1:p.Asp225Gly, NP_955368.1:p.Asp225Gly, XP_016858960.1:p.Asp225Gly, XP_024308498.1:p.Asp225Gly, NP_001307777.1:p.Asp225Gly

            6.

            rs1468179763 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              2:97085859 (GRCh38)
              2:97751596 (GRCh37)
              Canonical SPDI:
              NC_000002.12:97085858:G:C
              Gene:
              FAHD2B (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,synonymous_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.000071/1 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              C=0.000007/1 (GnomAD)
              HGVS:

              7.

              rs1467372025 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                G>- [Show Flanks]
                Chromosome:
                2:97084272 (GRCh38)
                2:97750009 (GRCh37)
                Canonical SPDI:
                NC_000002.12:97084271:G:
                Gene:
                FAHD2B (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                -=0./0 (ALFA)
                -=0.000007/1 (GnomAD)
                HGVS:
                NC_000002.12:g.97084272del, NC_000002.11:g.97750009del, NW_025791765.1:g.58970del, XM_011510747.4:c.691del, XM_011510747.3:c.691del, XM_011510747.2:c.691del, XM_011510747.1:c.691del, XM_011510746.3:c.691del, XM_011510746.2:c.691del, XM_011510746.1:c.691del, XM_011510745.3:c.691del, XM_011510745.2:c.691del, XM_011510745.1:c.691del, XM_011510748.3:c.691del, XM_011510748.2:c.691del, XM_011510748.1:c.691del, NM_199336.3:c.691del, NM_199336.2:c.691del, NM_199336.1:c.691del, XM_011510750.3:c.468del, XM_011510750.2:c.468del, XM_011510750.1:c.468del, XM_017003471.2:c.691del, XM_017003471.1:c.691del, XM_024452730.2:c.691del, XM_024452730.1:c.691del, NM_001320848.2:c.691del, NM_001320848.1:c.691del, XM_047443515.1:c.528del, XM_047443517.1:c.468del, XM_047443516.1:c.528del, XP_011509049.1:p.His231fs, XP_011509048.1:p.His231fs, XP_011509047.1:p.His231fs, XP_011509050.1:p.His231fs, NP_955368.1:p.His231fs, XP_011509052.1:p.His156fs, XP_016858960.1:p.His231fs, XP_024308498.1:p.His231fs, NP_001307777.1:p.His231fs, XP_047299471.1:p.His176fs, XP_047299473.1:p.His156fs, XP_047299472.1:p.His176fs

                8.

                rs1467264065 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  2:97086183 (GRCh38)
                  2:97751920 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:97086182:C:T
                  Gene:
                  FAHD2B (Varview)
                  Functional Consequence:
                  coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  T=0.000008/2 (GnomAD_exomes)
                  T=0.000011/3 (TOPMED)
                  HGVS:
                  NC_000002.12:g.97086183C>T, NC_000002.11:g.97751920C>T, NW_025791765.1:g.60881C>T, XM_011510747.4:c.478G>A, XM_011510747.3:c.478G>A, XM_011510747.2:c.478G>A, XM_011510747.1:c.478G>A, XM_011510746.3:c.478G>A, XM_011510746.2:c.478G>A, XM_011510746.1:c.478G>A, XM_011510745.3:c.478G>A, XM_011510745.2:c.478G>A, XM_011510745.1:c.478G>A, XM_011510748.3:c.478G>A, XM_011510748.2:c.478G>A, XM_011510748.1:c.478G>A, NM_199336.3:c.478G>A, NM_199336.2:c.478G>A, NM_199336.1:c.478G>A, XM_017003471.2:c.478G>A, XM_017003471.1:c.478G>A, NM_001320848.2:c.478G>A, NM_001320848.1:c.478G>A, XM_024452730.2:c.478G>A, XM_024452730.1:c.478G>A, XM_047443514.1:c.478G>A, XM_047443515.1:c.478G>A, XM_047443516.1:c.478G>A, XP_011509049.1:p.Val160Met, XP_011509048.1:p.Val160Met, XP_011509047.1:p.Val160Met, XP_011509050.1:p.Val160Met, NP_955368.1:p.Val160Met, XP_016858960.1:p.Val160Met, NP_001307777.1:p.Val160Met, XP_024308498.1:p.Val160Met, XP_047299470.1:p.Val160Met, XP_047299471.1:p.Val160Met, XP_047299472.1:p.Val160Met

                  9.

                  rs1461967546 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    2:97090297 (GRCh38)
                    2:97756034 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:97090296:G:A
                    Gene:
                    FAHD2B (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000002.12:g.97090297G>A, NC_000002.11:g.97756034G>A, NW_025791765.1:g.64995G>A, XM_011510747.4:c.274C>T, XM_011510747.3:c.274C>T, XM_011510747.2:c.274C>T, XM_011510747.1:c.274C>T, XM_011510746.3:c.274C>T, XM_011510746.2:c.274C>T, XM_011510746.1:c.274C>T, XM_011510745.3:c.274C>T, XM_011510745.2:c.274C>T, XM_011510745.1:c.274C>T, XM_011510748.3:c.274C>T, XM_011510748.2:c.274C>T, XM_011510748.1:c.274C>T, NM_199336.3:c.274C>T, NM_199336.2:c.274C>T, NM_199336.1:c.274C>T, XM_011510750.3:c.274C>T, XM_011510750.2:c.274C>T, XM_011510750.1:c.274C>T, XM_017003471.2:c.274C>T, XM_017003471.1:c.274C>T, XM_024452730.2:c.274C>T, XM_024452730.1:c.274C>T, NM_001320848.2:c.274C>T, NM_001320848.1:c.274C>T, NM_001320849.2:c.274C>T, NM_001320849.1:c.274C>T, XM_047443515.1:c.274C>T, XM_047443516.1:c.274C>T, XM_047443514.1:c.274C>T, XM_047443517.1:c.274C>T, XP_011509049.1:p.Pro92Ser, XP_011509048.1:p.Pro92Ser, XP_011509047.1:p.Pro92Ser, XP_011509050.1:p.Pro92Ser, NP_955368.1:p.Pro92Ser, XP_011509052.1:p.Pro92Ser, XP_016858960.1:p.Pro92Ser, XP_024308498.1:p.Pro92Ser, NP_001307777.1:p.Pro92Ser, NP_001307778.1:p.Pro92Ser, XP_047299471.1:p.Pro92Ser, XP_047299472.1:p.Pro92Ser, XP_047299470.1:p.Pro92Ser, XP_047299473.1:p.Pro92Ser

                    10.

                    rs1458718213 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      2:97086145 (GRCh38)
                      2:97751882 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:97086144:G:T
                      Gene:
                      FAHD2B (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000002.12:g.97086145G>T, NC_000002.11:g.97751882G>T, NW_025791765.1:g.60843G>T, XM_011510747.4:c.516C>A, XM_011510747.3:c.516C>A, XM_011510747.2:c.516C>A, XM_011510747.1:c.516C>A, XM_011510746.3:c.516C>A, XM_011510746.2:c.516C>A, XM_011510746.1:c.516C>A, XM_011510745.3:c.516C>A, XM_011510745.2:c.516C>A, XM_011510745.1:c.516C>A, XM_011510748.3:c.516C>A, XM_011510748.2:c.516C>A, XM_011510748.1:c.516C>A, NM_199336.3:c.516C>A, NM_199336.2:c.516C>A, NM_199336.1:c.516C>A, XM_017003471.2:c.516C>A, XM_017003471.1:c.516C>A, NM_001320848.2:c.516C>A, NM_001320848.1:c.516C>A, XM_024452730.2:c.516C>A, XM_024452730.1:c.516C>A, XM_047443514.1:c.516C>A, XM_047443515.1:c.516C>A, XM_047443516.1:c.516C>A, XP_011509049.1:p.His172Gln, XP_011509048.1:p.His172Gln, XP_011509047.1:p.His172Gln, XP_011509050.1:p.His172Gln, NP_955368.1:p.His172Gln, XP_016858960.1:p.His172Gln, NP_001307777.1:p.His172Gln, XP_024308498.1:p.His172Gln, XP_047299470.1:p.His172Gln, XP_047299471.1:p.His172Gln, XP_047299472.1:p.His172Gln

                      11.

                      rs1458101826 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        2:97090191 (GRCh38)
                        2:97755928 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:97090190:G:C
                        Gene:
                        FAHD2B (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        HGVS:
                        NC_000002.12:g.97090191G>C, NC_000002.11:g.97755928G>C, NW_025791765.1:g.64889G>C, XM_011510747.4:c.380C>G, XM_011510747.3:c.380C>G, XM_011510747.2:c.380C>G, XM_011510747.1:c.380C>G, XM_011510746.3:c.380C>G, XM_011510746.2:c.380C>G, XM_011510746.1:c.380C>G, XM_011510745.3:c.380C>G, XM_011510745.2:c.380C>G, XM_011510745.1:c.380C>G, XM_011510748.3:c.380C>G, XM_011510748.2:c.380C>G, XM_011510748.1:c.380C>G, NM_199336.3:c.380C>G, NM_199336.2:c.380C>G, NM_199336.1:c.380C>G, XM_011510750.3:c.380C>G, XM_011510750.2:c.380C>G, XM_011510750.1:c.380C>G, XM_017003471.2:c.380C>G, XM_017003471.1:c.380C>G, XM_024452730.2:c.380C>G, XM_024452730.1:c.380C>G, NM_001320848.2:c.380C>G, NM_001320848.1:c.380C>G, NM_001320849.2:c.380C>G, NM_001320849.1:c.380C>G, XM_047443515.1:c.380C>G, XM_047443516.1:c.380C>G, XM_047443514.1:c.380C>G, XM_047443517.1:c.380C>G, XP_011509049.1:p.Pro127Arg, XP_011509048.1:p.Pro127Arg, XP_011509047.1:p.Pro127Arg, XP_011509050.1:p.Pro127Arg, NP_955368.1:p.Pro127Arg, XP_011509052.1:p.Pro127Arg, XP_016858960.1:p.Pro127Arg, XP_024308498.1:p.Pro127Arg, NP_001307777.1:p.Pro127Arg, NP_001307778.1:p.Pro127Arg, XP_047299471.1:p.Pro127Arg, XP_047299472.1:p.Pro127Arg, XP_047299470.1:p.Pro127Arg, XP_047299473.1:p.Pro127Arg

                        12.

                        rs1457392860 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          2:97090285 (GRCh38)
                          2:97756022 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:97090284:C:A
                          Gene:
                          FAHD2B (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000002.12:g.97090285C>A, NC_000002.11:g.97756022C>A, NW_025791765.1:g.64983C>A, XM_011510747.4:c.286G>T, XM_011510747.3:c.286G>T, XM_011510747.2:c.286G>T, XM_011510747.1:c.286G>T, XM_011510746.3:c.286G>T, XM_011510746.2:c.286G>T, XM_011510746.1:c.286G>T, XM_011510745.3:c.286G>T, XM_011510745.2:c.286G>T, XM_011510745.1:c.286G>T, XM_011510748.3:c.286G>T, XM_011510748.2:c.286G>T, XM_011510748.1:c.286G>T, NM_199336.3:c.286G>T, NM_199336.2:c.286G>T, NM_199336.1:c.286G>T, XM_011510750.3:c.286G>T, XM_011510750.2:c.286G>T, XM_011510750.1:c.286G>T, XM_017003471.2:c.286G>T, XM_017003471.1:c.286G>T, XM_024452730.2:c.286G>T, XM_024452730.1:c.286G>T, NM_001320848.2:c.286G>T, NM_001320848.1:c.286G>T, NM_001320849.2:c.286G>T, NM_001320849.1:c.286G>T, XM_047443515.1:c.286G>T, XM_047443516.1:c.286G>T, XM_047443514.1:c.286G>T, XM_047443517.1:c.286G>T, XP_011509049.1:p.Val96Leu, XP_011509048.1:p.Val96Leu, XP_011509047.1:p.Val96Leu, XP_011509050.1:p.Val96Leu, NP_955368.1:p.Val96Leu, XP_011509052.1:p.Val96Leu, XP_016858960.1:p.Val96Leu, XP_024308498.1:p.Val96Leu, NP_001307777.1:p.Val96Leu, NP_001307778.1:p.Val96Leu, XP_047299471.1:p.Val96Leu, XP_047299472.1:p.Val96Leu, XP_047299470.1:p.Val96Leu, XP_047299473.1:p.Val96Leu

                          13.

                          rs1456090597 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C,G [Show Flanks]
                            Chromosome:
                            2:97091627 (GRCh38)
                            2:97757364 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:97091626:A:C,NC_000002.12:97091626:A:G
                            Gene:
                            FAHD2B (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            C=0.000004/1 (GnomAD_exomes)
                            G=0.000546/1 (Korea1K)
                            HGVS:
                            NC_000002.12:g.97091627A>C, NC_000002.12:g.97091627A>G, NC_000002.11:g.97757364A>C, NC_000002.11:g.97757364A>G, NW_025791765.1:g.66325A>C, NW_025791765.1:g.66325A>G, XM_011510747.4:c.80T>G, XM_011510747.4:c.80T>C, XM_011510747.3:c.80T>G, XM_011510747.3:c.80T>C, XM_011510747.2:c.80T>G, XM_011510747.2:c.80T>C, XM_011510747.1:c.80T>G, XM_011510747.1:c.80T>C, XM_011510746.3:c.80T>G, XM_011510746.3:c.80T>C, XM_011510746.2:c.80T>G, XM_011510746.2:c.80T>C, XM_011510746.1:c.80T>G, XM_011510746.1:c.80T>C, XM_011510745.3:c.80T>G, XM_011510745.3:c.80T>C, XM_011510745.2:c.80T>G, XM_011510745.2:c.80T>C, XM_011510745.1:c.80T>G, XM_011510745.1:c.80T>C, XM_011510748.3:c.80T>G, XM_011510748.3:c.80T>C, XM_011510748.2:c.80T>G, XM_011510748.2:c.80T>C, XM_011510748.1:c.80T>G, XM_011510748.1:c.80T>C, NM_199336.3:c.80T>G, NM_199336.3:c.80T>C, NM_199336.2:c.80T>G, NM_199336.2:c.80T>C, NM_199336.1:c.80T>G, NM_199336.1:c.80T>C, XM_011510750.3:c.80T>G, XM_011510750.3:c.80T>C, XM_011510750.2:c.80T>G, XM_011510750.2:c.80T>C, XM_011510750.1:c.80T>G, XM_011510750.1:c.80T>C, XM_017003471.2:c.80T>G, XM_017003471.2:c.80T>C, XM_017003471.1:c.80T>G, XM_017003471.1:c.80T>C, XM_024452730.2:c.80T>G, XM_024452730.2:c.80T>C, XM_024452730.1:c.80T>G, XM_024452730.1:c.80T>C, NM_001320848.2:c.80T>G, NM_001320848.2:c.80T>C, NM_001320848.1:c.80T>G, NM_001320848.1:c.80T>C, NM_001320849.2:c.80T>G, NM_001320849.2:c.80T>C, NM_001320849.1:c.80T>G, NM_001320849.1:c.80T>C, XM_047443515.1:c.80T>G, XM_047443515.1:c.80T>C, XM_047443516.1:c.80T>G, XM_047443516.1:c.80T>C, XM_047443514.1:c.80T>G, XM_047443514.1:c.80T>C, XM_047443517.1:c.80T>G, XM_047443517.1:c.80T>C, XP_011509049.1:p.Met27Arg, XP_011509049.1:p.Met27Thr, XP_011509048.1:p.Met27Arg, XP_011509048.1:p.Met27Thr, XP_011509047.1:p.Met27Arg, XP_011509047.1:p.Met27Thr, XP_011509050.1:p.Met27Arg, XP_011509050.1:p.Met27Thr, NP_955368.1:p.Met27Arg, NP_955368.1:p.Met27Thr, XP_011509052.1:p.Met27Arg, XP_011509052.1:p.Met27Thr, XP_016858960.1:p.Met27Arg, XP_016858960.1:p.Met27Thr, XP_024308498.1:p.Met27Arg, XP_024308498.1:p.Met27Thr, NP_001307777.1:p.Met27Arg, NP_001307777.1:p.Met27Thr, NP_001307778.1:p.Met27Arg, NP_001307778.1:p.Met27Thr, XP_047299471.1:p.Met27Arg, XP_047299471.1:p.Met27Thr, XP_047299472.1:p.Met27Arg, XP_047299472.1:p.Met27Thr, XP_047299470.1:p.Met27Arg, XP_047299470.1:p.Met27Thr, XP_047299473.1:p.Met27Arg, XP_047299473.1:p.Met27Thr

                            14.

                            rs1453217152 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A,C [Show Flanks]
                              Chromosome:
                              2:97084007 (GRCh38)
                              2:97749744 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:97084006:T:A,NC_000002.12:97084006:T:C
                              Gene:
                              FAHD2B (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              A=0.000008/2 (GnomAD_exomes)
                              C=0.000035/1 (TOMMO)
                              HGVS:
                              NC_000002.12:g.97084007T>A, NC_000002.12:g.97084007T>C, NC_000002.11:g.97749744T>A, NC_000002.11:g.97749744T>C, NW_025791765.1:g.58705T>A, NW_025791765.1:g.58705T>C, XM_011510747.4:c.823A>T, XM_011510747.4:c.823A>G, XM_011510747.3:c.823A>T, XM_011510747.3:c.823A>G, XM_011510747.2:c.823A>T, XM_011510747.2:c.823A>G, XM_011510747.1:c.823A>T, XM_011510747.1:c.823A>G, XM_011510746.3:c.823A>T, XM_011510746.3:c.823A>G, XM_011510746.2:c.823A>T, XM_011510746.2:c.823A>G, XM_011510746.1:c.823A>T, XM_011510746.1:c.823A>G, XM_011510745.3:c.823A>T, XM_011510745.3:c.823A>G, XM_011510745.2:c.823A>T, XM_011510745.2:c.823A>G, XM_011510745.1:c.823A>T, XM_011510745.1:c.823A>G, XM_011510748.3:c.823A>T, XM_011510748.3:c.823A>G, XM_011510748.2:c.823A>T, XM_011510748.2:c.823A>G, XM_011510748.1:c.823A>T, XM_011510748.1:c.823A>G, NM_199336.3:c.823A>T, NM_199336.3:c.823A>G, NM_199336.2:c.823A>T, NM_199336.2:c.823A>G, NM_199336.1:c.823A>T, NM_199336.1:c.823A>G, XM_017003471.2:c.823A>T, XM_017003471.2:c.823A>G, XM_017003471.1:c.823A>T, XM_017003471.1:c.823A>G, XM_024452730.2:c.823A>T, XM_024452730.2:c.823A>G, XM_024452730.1:c.823A>T, XM_024452730.1:c.823A>G, NM_001320848.2:c.823A>T, NM_001320848.2:c.823A>G, NM_001320848.1:c.823A>T, NM_001320848.1:c.823A>G, XP_011509049.1:p.Ile275Phe, XP_011509049.1:p.Ile275Val, XP_011509048.1:p.Ile275Phe, XP_011509048.1:p.Ile275Val, XP_011509047.1:p.Ile275Phe, XP_011509047.1:p.Ile275Val, XP_011509050.1:p.Ile275Phe, XP_011509050.1:p.Ile275Val, NP_955368.1:p.Ile275Phe, NP_955368.1:p.Ile275Val, XP_016858960.1:p.Ile275Phe, XP_016858960.1:p.Ile275Val, XP_024308498.1:p.Ile275Phe, XP_024308498.1:p.Ile275Val, NP_001307777.1:p.Ile275Phe, NP_001307777.1:p.Ile275Val

                              15.

                              rs1440287128 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                2:97091561 (GRCh38)
                                2:97757298 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:97091560:C:A
                                Gene:
                                FAHD2B (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000002.12:g.97091561C>A, NC_000002.11:g.97757298C>A, NW_025791765.1:g.66259C>A, XM_011510747.4:c.146G>T, XM_011510747.3:c.146G>T, XM_011510747.2:c.146G>T, XM_011510747.1:c.146G>T, XM_011510746.3:c.146G>T, XM_011510746.2:c.146G>T, XM_011510746.1:c.146G>T, XM_011510745.3:c.146G>T, XM_011510745.2:c.146G>T, XM_011510745.1:c.146G>T, XM_011510748.3:c.146G>T, XM_011510748.2:c.146G>T, XM_011510748.1:c.146G>T, NM_199336.3:c.146G>T, NM_199336.2:c.146G>T, NM_199336.1:c.146G>T, XM_011510750.3:c.146G>T, XM_011510750.2:c.146G>T, XM_011510750.1:c.146G>T, XM_017003471.2:c.146G>T, XM_017003471.1:c.146G>T, XM_024452730.2:c.146G>T, XM_024452730.1:c.146G>T, NM_001320848.2:c.146G>T, NM_001320848.1:c.146G>T, NM_001320849.2:c.146G>T, NM_001320849.1:c.146G>T, XM_047443515.1:c.146G>T, XM_047443516.1:c.146G>T, XM_047443514.1:c.146G>T, XM_047443517.1:c.146G>T, XP_011509049.1:p.Gly49Val, XP_011509048.1:p.Gly49Val, XP_011509047.1:p.Gly49Val, XP_011509050.1:p.Gly49Val, NP_955368.1:p.Gly49Val, XP_011509052.1:p.Gly49Val, XP_016858960.1:p.Gly49Val, XP_024308498.1:p.Gly49Val, NP_001307777.1:p.Gly49Val, NP_001307778.1:p.Gly49Val, XP_047299471.1:p.Gly49Val, XP_047299472.1:p.Gly49Val, XP_047299470.1:p.Gly49Val, XP_047299473.1:p.Gly49Val

                                16.

                                rs1438943985 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  2:97090230 (GRCh38)
                                  2:97755967 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:97090229:T:C
                                  Gene:
                                  FAHD2B (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  HGVS:
                                  NC_000002.12:g.97090230T>C, NC_000002.11:g.97755967T>C, NW_025791765.1:g.64928T>C, XM_011510747.4:c.341A>G, XM_011510747.3:c.341A>G, XM_011510747.2:c.341A>G, XM_011510747.1:c.341A>G, XM_011510746.3:c.341A>G, XM_011510746.2:c.341A>G, XM_011510746.1:c.341A>G, XM_011510745.3:c.341A>G, XM_011510745.2:c.341A>G, XM_011510745.1:c.341A>G, XM_011510748.3:c.341A>G, XM_011510748.2:c.341A>G, XM_011510748.1:c.341A>G, NM_199336.3:c.341A>G, NM_199336.2:c.341A>G, NM_199336.1:c.341A>G, XM_011510750.3:c.341A>G, XM_011510750.2:c.341A>G, XM_011510750.1:c.341A>G, XM_017003471.2:c.341A>G, XM_017003471.1:c.341A>G, XM_024452730.2:c.341A>G, XM_024452730.1:c.341A>G, NM_001320848.2:c.341A>G, NM_001320848.1:c.341A>G, NM_001320849.2:c.341A>G, NM_001320849.1:c.341A>G, XM_047443515.1:c.341A>G, XM_047443516.1:c.341A>G, XM_047443514.1:c.341A>G, XM_047443517.1:c.341A>G, XP_011509049.1:p.Asn114Ser, XP_011509048.1:p.Asn114Ser, XP_011509047.1:p.Asn114Ser, XP_011509050.1:p.Asn114Ser, NP_955368.1:p.Asn114Ser, XP_011509052.1:p.Asn114Ser, XP_016858960.1:p.Asn114Ser, XP_024308498.1:p.Asn114Ser, NP_001307777.1:p.Asn114Ser, NP_001307778.1:p.Asn114Ser, XP_047299471.1:p.Asn114Ser, XP_047299472.1:p.Asn114Ser, XP_047299470.1:p.Asn114Ser, XP_047299473.1:p.Asn114Ser

                                  17.

                                  rs1438727102 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,T [Show Flanks]
                                    Chromosome:
                                    2:97085732 (GRCh38)
                                    2:97751469 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:97085731:C:A,NC_000002.12:97085731:C:T
                                    Gene:
                                    FAHD2B (Varview)
                                    Functional Consequence:
                                    intron_variant,missense_variant,downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    A=0.000071/1 (TOMMO)
                                    HGVS:
                                    NC_000002.12:g.97085732C>A, NC_000002.12:g.97085732C>T, NC_000002.11:g.97751469C>A, NC_000002.11:g.97751469C>T, NW_025791765.1:g.60430C>A, NW_025791765.1:g.60430C>T, XM_011510747.4:c.652G>T, XM_011510747.4:c.652G>A, XM_011510747.3:c.652G>T, XM_011510747.3:c.652G>A, XM_011510747.2:c.652G>T, XM_011510747.2:c.652G>A, XM_011510747.1:c.652G>T, XM_011510747.1:c.652G>A, XM_011510746.3:c.652G>T, XM_011510746.3:c.652G>A, XM_011510746.2:c.652G>T, XM_011510746.2:c.652G>A, XM_011510746.1:c.652G>T, XM_011510746.1:c.652G>A, XM_011510745.3:c.652G>T, XM_011510745.3:c.652G>A, XM_011510745.2:c.652G>T, XM_011510745.2:c.652G>A, XM_011510745.1:c.652G>T, XM_011510745.1:c.652G>A, XM_011510748.3:c.652G>T, XM_011510748.3:c.652G>A, XM_011510748.2:c.652G>T, XM_011510748.2:c.652G>A, XM_011510748.1:c.652G>T, XM_011510748.1:c.652G>A, NM_199336.3:c.652G>T, NM_199336.3:c.652G>A, NM_199336.2:c.652G>T, NM_199336.2:c.652G>A, NM_199336.1:c.652G>T, NM_199336.1:c.652G>A, XM_017003471.2:c.652G>T, XM_017003471.2:c.652G>A, XM_017003471.1:c.652G>T, XM_017003471.1:c.652G>A, XM_024452730.2:c.652G>T, XM_024452730.2:c.652G>A, XM_024452730.1:c.652G>T, XM_024452730.1:c.652G>A, NM_001320848.2:c.652G>T, NM_001320848.2:c.652G>A, NM_001320848.1:c.652G>T, NM_001320848.1:c.652G>A, XP_011509049.1:p.Gly218Cys, XP_011509049.1:p.Gly218Ser, XP_011509048.1:p.Gly218Cys, XP_011509048.1:p.Gly218Ser, XP_011509047.1:p.Gly218Cys, XP_011509047.1:p.Gly218Ser, XP_011509050.1:p.Gly218Cys, XP_011509050.1:p.Gly218Ser, NP_955368.1:p.Gly218Cys, NP_955368.1:p.Gly218Ser, XP_016858960.1:p.Gly218Cys, XP_016858960.1:p.Gly218Ser, XP_024308498.1:p.Gly218Cys, XP_024308498.1:p.Gly218Ser, NP_001307777.1:p.Gly218Cys, NP_001307777.1:p.Gly218Ser

                                    18.

                                    rs1438089837 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      2:97084263 (GRCh38)
                                      2:97750000 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:97084262:T:G
                                      Gene:
                                      FAHD2B (Varview)
                                      Functional Consequence:
                                      missense_variant,stop_lost,genic_downstream_transcript_variant,coding_sequence_variant,terminator_codon_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_000002.12:g.97084263T>G, NC_000002.11:g.97750000T>G, NW_025791765.1:g.58961T>G, XM_011510747.4:c.700A>C, XM_011510747.3:c.700A>C, XM_011510747.2:c.700A>C, XM_011510747.1:c.700A>C, XM_011510746.3:c.700A>C, XM_011510746.2:c.700A>C, XM_011510746.1:c.700A>C, XM_011510745.3:c.700A>C, XM_011510745.2:c.700A>C, XM_011510745.1:c.700A>C, XM_011510748.3:c.700A>C, XM_011510748.2:c.700A>C, XM_011510748.1:c.700A>C, NM_199336.3:c.700A>C, NM_199336.2:c.700A>C, NM_199336.1:c.700A>C, XM_011510750.3:c.477A>C, XM_011510750.2:c.477A>C, XM_011510750.1:c.477A>C, XM_017003471.2:c.700A>C, XM_017003471.1:c.700A>C, XM_024452730.2:c.700A>C, XM_024452730.1:c.700A>C, NM_001320848.2:c.700A>C, NM_001320848.1:c.700A>C, XM_047443515.1:c.537A>C, XM_047443517.1:c.477A>C, XM_047443516.1:c.537A>C, XP_011509049.1:p.Lys234Gln, XP_011509048.1:p.Lys234Gln, XP_011509047.1:p.Lys234Gln, XP_011509050.1:p.Lys234Gln, NP_955368.1:p.Lys234Gln, XP_011509052.1:p.Ter159Tyr, XP_016858960.1:p.Lys234Gln, XP_024308498.1:p.Lys234Gln, NP_001307777.1:p.Lys234Gln, XP_047299471.1:p.Ter179Tyr, XP_047299473.1:p.Ter159Tyr, XP_047299472.1:p.Ter179Tyr

                                      19.

                                      rs1436199655 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        2:97084253 (GRCh38)
                                        2:97749990 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:97084252:C:G
                                        Gene:
                                        FAHD2B (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000002.12:g.97084253C>G, NC_000002.11:g.97749990C>G, NW_025791765.1:g.58951C>G, XM_011510747.4:c.710G>C, XM_011510747.3:c.710G>C, XM_011510747.2:c.710G>C, XM_011510747.1:c.710G>C, XM_011510746.3:c.710G>C, XM_011510746.2:c.710G>C, XM_011510746.1:c.710G>C, XM_011510745.3:c.710G>C, XM_011510745.2:c.710G>C, XM_011510745.1:c.710G>C, XM_011510748.3:c.710G>C, XM_011510748.2:c.710G>C, XM_011510748.1:c.710G>C, NM_199336.3:c.710G>C, NM_199336.2:c.710G>C, NM_199336.1:c.710G>C, XM_011510750.3:c.*10G>C, XM_011510750.2:c.*10G>C, XM_011510750.1:c.*10G>C, XM_017003471.2:c.710G>C, XM_017003471.1:c.710G>C, XM_024452730.2:c.710G>C, XM_024452730.1:c.710G>C, NM_001320848.2:c.710G>C, NM_001320848.1:c.710G>C, XM_047443515.1:c.*10G>C, XM_047443517.1:c.*10G>C, XM_047443516.1:c.*10G>C, XP_011509049.1:p.Cys237Ser, XP_011509048.1:p.Cys237Ser, XP_011509047.1:p.Cys237Ser, XP_011509050.1:p.Cys237Ser, NP_955368.1:p.Cys237Ser, XP_016858960.1:p.Cys237Ser, XP_024308498.1:p.Cys237Ser, NP_001307777.1:p.Cys237Ser

                                        20.

                                        rs1434948165 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          2:97091587 (GRCh38)
                                          2:97757324 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:97091586:A:G
                                          Gene:
                                          FAHD2B (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          HGVS:
                                          NC_000002.12:g.97091587A>G, NC_000002.11:g.97757324A>G, NW_025791765.1:g.66285A>G, XM_011510747.4:c.120T>C, XM_011510747.3:c.120T>C, XM_011510747.2:c.120T>C, XM_011510747.1:c.120T>C, XM_011510746.3:c.120T>C, XM_011510746.2:c.120T>C, XM_011510746.1:c.120T>C, XM_011510745.3:c.120T>C, XM_011510745.2:c.120T>C, XM_011510745.1:c.120T>C, XM_011510748.3:c.120T>C, XM_011510748.2:c.120T>C, XM_011510748.1:c.120T>C, NM_199336.3:c.120T>C, NM_199336.2:c.120T>C, NM_199336.1:c.120T>C, XM_011510750.3:c.120T>C, XM_011510750.2:c.120T>C, XM_011510750.1:c.120T>C, XM_017003471.2:c.120T>C, XM_017003471.1:c.120T>C, XM_024452730.2:c.120T>C, XM_024452730.1:c.120T>C, NM_001320848.2:c.120T>C, NM_001320848.1:c.120T>C, NM_001320849.2:c.120T>C, NM_001320849.1:c.120T>C, XM_047443515.1:c.120T>C, XM_047443516.1:c.120T>C, XM_047443514.1:c.120T>C, XM_047443517.1:c.120T>C

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