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Items: 1 to 20 of 523

1.

rs1490132439 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G,T [Show Flanks]
    Chromosome:
    8:12194008 (GRCh38)
    8:12051517 (GRCh37)
    Canonical SPDI:
    NC_000008.11:12194007:C:G,NC_000008.11:12194007:C:T
    Gene:
    FAM86B1 (Varview), FAM85A (Varview)
    Functional Consequence:
    non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    T=0.000039/5 (GnomAD)
    HGVS:
    NC_000008.11:g.12194008C>G, NC_000008.11:g.12194008C>T, NC_000008.10:g.12051517C>G, NC_000008.10:g.12051517C>T, XM_006716257.5:c.63G>C, XM_006716257.5:c.63G>A, XM_006716257.4:c.63G>C, XM_006716257.4:c.63G>A, XM_006716257.3:c.63G>C, XM_006716257.3:c.63G>A, XM_006716257.2:c.63G>C, XM_006716257.2:c.63G>A, XM_006716257.1:c.63G>C, XM_006716257.1:c.63G>A, XM_006716256.5:c.63G>C, XM_006716256.5:c.63G>A, XM_006716256.4:c.63G>C, XM_006716256.4:c.63G>A, XM_006716256.3:c.63G>C, XM_006716256.3:c.63G>A, XM_006716256.2:c.63G>C, XM_006716256.2:c.63G>A, XM_006716256.1:c.63G>C, XM_006716256.1:c.63G>A, XM_006716260.5:c.63G>C, XM_006716260.5:c.63G>A, XM_006716260.4:c.63G>C, XM_006716260.4:c.63G>A, XM_006716260.3:c.63G>C, XM_006716260.3:c.63G>A, XM_006716260.2:c.63G>C, XM_006716260.2:c.63G>A, XM_006716260.1:c.63G>C, XM_006716260.1:c.63G>A, NM_001083537.4:c.63G>C, NM_001083537.4:c.63G>A, NM_001083537.3:c.63G>C, NM_001083537.3:c.63G>A, NM_001083537.2:c.63G>C, NM_001083537.2:c.63G>A, NM_001083537.1:c.63G>C, NM_001083537.1:c.63G>A, XM_017013916.3:c.63G>C, XM_017013916.3:c.63G>A, XM_017013916.2:c.63G>C, XM_017013916.2:c.63G>A, XM_017013916.1:c.63G>C, XM_017013916.1:c.63G>A, XM_017013917.3:c.63G>C, XM_017013917.3:c.63G>A, XM_017013917.2:c.63G>C, XM_017013917.2:c.63G>A, XM_017013917.1:c.63G>C, XM_017013917.1:c.63G>A, XM_017013918.3:c.63G>C, XM_017013918.3:c.63G>A, XM_017013918.2:c.63G>C, XM_017013918.2:c.63G>A, XM_017013918.1:c.63G>C, XM_017013918.1:c.63G>A, NR_003494.3:n.126G>C, NR_003494.3:n.126G>A, NR_003494.2:n.122G>C, NR_003494.2:n.122G>A, NR_003494.1:n.108G>C, NR_003494.1:n.108G>A, NM_032916.3:c.63G>C, NM_032916.3:c.63G>A, XM_047422359.1:c.-1593G>C, XM_047422359.1:c.-1593G>A, XM_047422361.1:c.63G>C, XM_047422361.1:c.63G>A

    2.

    rs1489633897 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C,G [Show Flanks]
      Chromosome:
      8:12188143 (GRCh38)
      8:12045652 (GRCh37)
      Canonical SPDI:
      NC_000008.11:12188142:T:C,NC_000008.11:12188142:T:G
      Gene:
      FAM86B1 (Varview), FAM85A (Varview)
      Functional Consequence:
      missense_variant,5_prime_UTR_variant,coding_sequence_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.00135/16 (ALFA)
      T=0.5/1 (SGDP_PRJ)
      HGVS:
      NC_000008.11:g.12188143T>C, NC_000008.11:g.12188143T>G, NC_000008.10:g.12045652T>C, NC_000008.10:g.12045652T>G, XM_006716257.5:c.190A>G, XM_006716257.5:c.190A>C, XM_006716257.4:c.190A>G, XM_006716257.4:c.190A>C, XM_006716257.3:c.190A>G, XM_006716257.3:c.190A>C, XM_006716257.2:c.190A>G, XM_006716257.2:c.190A>C, XM_006716257.1:c.190A>G, XM_006716257.1:c.190A>C, XM_006716256.5:c.271A>G, XM_006716256.5:c.271A>C, XM_006716256.4:c.271A>G, XM_006716256.4:c.271A>C, XM_006716256.3:c.271A>G, XM_006716256.3:c.271A>C, XM_006716256.2:c.271A>G, XM_006716256.2:c.271A>C, XM_006716256.1:c.271A>G, XM_006716256.1:c.271A>C, XM_011543843.4:c.-30A>G, XM_011543843.4:c.-30A>C, XM_011543843.3:c.-30A>G, XM_011543843.3:c.-30A>C, XM_011543843.2:c.-30A>G, XM_011543843.2:c.-30A>C, XM_011543843.1:c.-30A>G, XM_011543843.1:c.-30A>C, XM_047422355.1:c.-1215A>G, XM_047422355.1:c.-1215A>C, XM_047422357.1:c.-1215A>G, XM_047422357.1:c.-1215A>C, XM_047422359.1:c.-1215A>G, XM_047422359.1:c.-1215A>C, XM_047422356.1:c.-1215A>G, XM_047422356.1:c.-1215A>C, XM_047422362.1:c.-1215A>G, XM_047422362.1:c.-1215A>C, XM_047422358.1:c.-1215A>G, XM_047422358.1:c.-1215A>C, XM_047422361.1:c.271A>G, XM_047422361.1:c.271A>C, XM_047422354.1:c.-1215A>G, XM_047422354.1:c.-1215A>C, XP_006716320.1:p.Lys64Glu, XP_006716320.1:p.Lys64Gln, XP_006716319.1:p.Lys91Glu, XP_006716319.1:p.Lys91Gln, XP_047278317.1:p.Lys91Glu, XP_047278317.1:p.Lys91Gln

      3.

      rs1488557119 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        8:12186414 (GRCh38)
        8:12043923 (GRCh37)
        Canonical SPDI:
        NC_000008.11:12186413:T:C
        Gene:
        FAM86B1 (Varview), FAM85A (Varview)
        Functional Consequence:
        missense_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        HGVS:
        NC_000008.11:g.12186414T>C, NC_000008.10:g.12043923T>C, XM_006716257.5:c.599A>G, XM_006716257.4:c.599A>G, XM_006716257.3:c.599A>G, XM_006716257.2:c.599A>G, XM_006716257.1:c.599A>G, XM_006716256.5:c.680A>G, XM_006716256.4:c.680A>G, XM_006716256.3:c.680A>G, XM_006716256.2:c.680A>G, XM_006716256.1:c.680A>G, XM_006716260.5:c.497A>G, XM_006716260.4:c.497A>G, XM_006716260.3:c.497A>G, XM_006716260.2:c.497A>G, XM_006716260.1:c.497A>G, XM_011543842.4:c.455A>G, XM_011543842.3:c.455A>G, XM_011543842.2:c.455A>G, XM_011543842.1:c.455A>G, XM_011543843.4:c.380A>G, XM_011543843.3:c.380A>G, XM_011543843.2:c.380A>G, XM_011543843.1:c.380A>G, NM_001083537.4:c.578A>G, NM_001083537.3:c.578A>G, NM_001083537.2:c.578A>G, NM_001083537.1:c.578A>G, XM_017013916.3:c.578A>G, XM_017013916.2:c.578A>G, XM_017013916.1:c.578A>G, XM_017013917.3:c.497A>G, XM_017013917.2:c.497A>G, XM_017013917.1:c.497A>G, XM_017013918.3:c.467A>G, XM_017013918.2:c.467A>G, XM_017013918.1:c.467A>G, XM_024447313.2:c.455A>G, XM_024447313.1:c.455A>G, XM_024447315.2:c.344A>G, XM_024447315.1:c.344A>G, XM_024447314.2:c.455A>G, XM_024447314.1:c.455A>G, NM_032916.2:c.-870A>G, XM_047422355.1:c.515A>G, XM_047422357.1:c.515A>G, XM_047422359.1:c.515A>G, XM_047422356.1:c.515A>G, NR_146925.1:n.679T>C, XM_047422358.1:c.515A>G, XM_047422354.1:c.515A>G, NM_032916.1:c.-870A>G, XP_006716320.1:p.Asp200Gly, XP_006716319.1:p.Asp227Gly, XP_006716323.1:p.Asp166Gly, XP_011542144.1:p.Asp152Gly, XP_011542145.1:p.Asp127Gly, NP_001077006.1:p.Asp193Gly, XP_016869405.1:p.Asp193Gly, XP_016869406.1:p.Asp166Gly, XP_016869407.1:p.Asp156Gly, XP_024303081.1:p.Asp152Gly, XP_024303083.1:p.Asp115Gly, XP_024303082.1:p.Asp152Gly, XP_047278311.1:p.Asp172Gly, XP_047278313.1:p.Asp172Gly, XP_047278315.1:p.Asp172Gly, XP_047278312.1:p.Asp172Gly, XP_047278314.1:p.Asp172Gly, XP_047278310.1:p.Asp172Gly

        4.

        rs1487896007 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,T [Show Flanks]
          Chromosome:
          8:12186760 (GRCh38)
          8:12044269 (GRCh37)
          Canonical SPDI:
          NC_000008.11:12186759:C:A,NC_000008.11:12186759:C:T
          Gene:
          FAM86B1 (Varview), FAM85A (Varview)
          Functional Consequence:
          stop_gained,non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          T=0.00004/1 (TOMMO)
          HGVS:
          NC_000008.11:g.12186760C>A, NC_000008.11:g.12186760C>T, NC_000008.10:g.12044269C>A, NC_000008.10:g.12044269C>T, XM_006716257.5:c.335G>T, XM_006716257.5:c.335G>A, XM_006716257.4:c.335G>T, XM_006716257.4:c.335G>A, XM_006716257.3:c.335G>T, XM_006716257.3:c.335G>A, XM_006716257.2:c.335G>T, XM_006716257.2:c.335G>A, XM_006716257.1:c.335G>T, XM_006716257.1:c.335G>A, XM_006716256.5:c.416G>T, XM_006716256.5:c.416G>A, XM_006716256.4:c.416G>T, XM_006716256.4:c.416G>A, XM_006716256.3:c.416G>T, XM_006716256.3:c.416G>A, XM_006716256.2:c.416G>T, XM_006716256.2:c.416G>A, XM_006716256.1:c.416G>T, XM_006716256.1:c.416G>A, XM_006716260.5:c.233G>T, XM_006716260.5:c.233G>A, XM_006716260.4:c.233G>T, XM_006716260.4:c.233G>A, XM_006716260.3:c.233G>T, XM_006716260.3:c.233G>A, XM_006716260.2:c.233G>T, XM_006716260.2:c.233G>A, XM_006716260.1:c.233G>T, XM_006716260.1:c.233G>A, XM_011543842.4:c.109G>T, XM_011543842.4:c.109G>A, XM_011543842.3:c.109G>T, XM_011543842.3:c.109G>A, XM_011543842.2:c.109G>T, XM_011543842.2:c.109G>A, XM_011543842.1:c.109G>T, XM_011543842.1:c.109G>A, XM_011543843.4:c.116G>T, XM_011543843.4:c.116G>A, XM_011543843.3:c.116G>T, XM_011543843.3:c.116G>A, XM_011543843.2:c.116G>T, XM_011543843.2:c.116G>A, XM_011543843.1:c.116G>T, XM_011543843.1:c.116G>A, NM_001083537.4:c.314G>T, NM_001083537.4:c.314G>A, NM_001083537.3:c.314G>T, NM_001083537.3:c.314G>A, NM_001083537.2:c.314G>T, NM_001083537.2:c.314G>A, NM_001083537.1:c.314G>T, NM_001083537.1:c.314G>A, XM_017013916.3:c.314G>T, XM_017013916.3:c.314G>A, XM_017013916.2:c.314G>T, XM_017013916.2:c.314G>A, XM_017013916.1:c.314G>T, XM_017013916.1:c.314G>A, XM_017013917.3:c.233G>T, XM_017013917.3:c.233G>A, XM_017013917.2:c.233G>T, XM_017013917.2:c.233G>A, XM_017013917.1:c.233G>T, XM_017013917.1:c.233G>A, XM_017013918.3:c.203G>T, XM_017013918.3:c.203G>A, XM_017013918.2:c.203G>T, XM_017013918.2:c.203G>A, XM_017013918.1:c.203G>T, XM_017013918.1:c.203G>A, NR_003494.3:n.377G>T, NR_003494.3:n.377G>A, NR_003494.2:n.373G>T, NR_003494.2:n.373G>A, NR_003494.1:n.359G>T, NR_003494.1:n.359G>A, NM_032916.3:c.314G>T, NM_032916.3:c.314G>A, XM_024447313.2:c.109G>T, XM_024447313.2:c.109G>A, XM_024447313.1:c.109G>T, XM_024447313.1:c.109G>A, XM_024447315.2:c.-3G>T, XM_024447315.2:c.-3G>A, XM_024447315.1:c.-3G>T, XM_024447315.1:c.-3G>A, XM_024447314.2:c.109G>T, XM_024447314.2:c.109G>A, XM_024447314.1:c.109G>T, XM_024447314.1:c.109G>A, NM_032916.2:c.-1135G>T, NM_032916.2:c.-1135G>A, XM_047422355.1:c.169G>T, XM_047422355.1:c.169G>A, XM_047422357.1:c.169G>T, XM_047422357.1:c.169G>A, XM_047422359.1:c.169G>T, XM_047422359.1:c.169G>A, XM_047422356.1:c.169G>T, XM_047422356.1:c.169G>A, XM_047422362.1:c.169G>T, XM_047422362.1:c.169G>A, NR_146925.1:n.1025C>A, NR_146925.1:n.1025C>T, XM_047422358.1:c.169G>T, XM_047422358.1:c.169G>A, XM_047422361.1:c.416G>T, XM_047422361.1:c.416G>A, XM_047422354.1:c.169G>T, XM_047422354.1:c.169G>A, NM_032916.1:c.-1135G>T, NM_032916.1:c.-1135G>A, XP_006716320.1:p.Trp112Leu, XP_006716320.1:p.Trp112Ter, XP_006716319.1:p.Trp139Leu, XP_006716319.1:p.Trp139Ter, XP_006716323.1:p.Trp78Leu, XP_006716323.1:p.Trp78Ter, XP_011542144.1:p.Gly37Trp, XP_011542144.1:p.Gly37Arg, XP_011542145.1:p.Trp39Leu, XP_011542145.1:p.Trp39Ter, NP_001077006.1:p.Trp105Leu, NP_001077006.1:p.Trp105Ter, XP_016869405.1:p.Trp105Leu, XP_016869405.1:p.Trp105Ter, XP_016869406.1:p.Trp78Leu, XP_016869406.1:p.Trp78Ter, XP_016869407.1:p.Trp68Leu, XP_016869407.1:p.Trp68Ter, XP_024303081.1:p.Gly37Trp, XP_024303081.1:p.Gly37Arg, XP_024303082.1:p.Gly37Trp, XP_024303082.1:p.Gly37Arg, XP_047278311.1:p.Gly57Trp, XP_047278311.1:p.Gly57Arg, XP_047278313.1:p.Gly57Trp, XP_047278313.1:p.Gly57Arg, XP_047278315.1:p.Gly57Trp, XP_047278315.1:p.Gly57Arg, XP_047278312.1:p.Gly57Trp, XP_047278312.1:p.Gly57Arg, XP_047278318.1:p.Gly57Trp, XP_047278318.1:p.Gly57Arg, XP_047278314.1:p.Gly57Trp, XP_047278314.1:p.Gly57Arg, XP_047278317.1:p.Trp139Leu, XP_047278317.1:p.Trp139Ter, XP_047278310.1:p.Gly57Trp, XP_047278310.1:p.Gly57Arg

          5.

          rs1487770453 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            8:12183687 (GRCh38)
            8:12041196 (GRCh37)
            Canonical SPDI:
            NC_000008.11:12183686:C:T
            Gene:
            FAM86B1 (Varview)
            Functional Consequence:
            stop_gained,non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000008/2 (TOPMED)
            HGVS:
            NC_000008.11:g.12183687C>T, NC_000008.10:g.12041196C>T, XM_006716257.5:c.973G>A, XM_006716257.4:c.973G>A, XM_006716257.3:c.973G>A, XM_006716257.2:c.973G>A, XM_006716257.1:c.973G>A, XM_006716256.5:c.912G>A, XM_006716256.4:c.912G>A, XM_006716256.3:c.912G>A, XM_006716256.2:c.912G>A, XM_006716256.1:c.912G>A, XM_006716260.5:c.729G>A, XM_006716260.4:c.729G>A, XM_006716260.3:c.729G>A, XM_006716260.2:c.729G>A, XM_006716260.1:c.729G>A, XM_011543842.4:c.829G>A, XM_011543842.3:c.829G>A, XM_011543842.2:c.829G>A, XM_011543842.1:c.829G>A, XM_011543843.4:c.754G>A, XM_011543843.3:c.754G>A, XM_011543843.2:c.754G>A, XM_011543843.1:c.754G>A, NM_001083537.4:c.810G>A, NM_001083537.3:c.810G>A, NM_001083537.2:c.810G>A, NM_001083537.1:c.810G>A, XM_017013916.3:c.952G>A, XM_017013916.2:c.952G>A, XM_017013916.1:c.952G>A, XM_017013917.3:c.871G>A, XM_017013917.2:c.871G>A, XM_017013917.1:c.871G>A, XM_017013918.3:c.841G>A, XM_017013918.2:c.841G>A, XM_017013918.1:c.841G>A, NR_003494.3:n.607G>A, NR_003494.2:n.603G>A, NR_003494.1:n.589G>A, NM_032916.3:c.*82G>A, XM_024447315.2:c.718G>A, XM_024447315.1:c.718G>A, XM_024447313.2:c.829G>A, XM_024447313.1:c.829G>A, XM_024447314.2:c.829G>A, XM_024447314.1:c.829G>A, XM_047422355.1:c.889G>A, XM_047422357.1:c.889G>A, XM_047422359.1:c.889G>A, XM_047422356.1:c.889G>A, XM_047422358.1:c.889G>A, XM_047422362.1:c.541G>A, XM_047422354.1:c.889G>A, NM_032916.2:c.-638G>A, NM_032916.1:c.-638G>A, XP_006716320.1:p.Gly325Arg, XP_006716319.1:p.Trp304Ter, XP_006716323.1:p.Trp243Ter, XP_011542144.1:p.Gly277Arg, XP_011542145.1:p.Gly252Arg, NP_001077006.1:p.Trp270Ter, XP_016869405.1:p.Gly318Arg, XP_016869406.1:p.Gly291Arg, XP_016869407.1:p.Gly281Arg, XP_024303083.1:p.Gly240Arg, XP_024303081.1:p.Gly277Arg, XP_024303082.1:p.Gly277Arg, XP_047278311.1:p.Gly297Arg, XP_047278313.1:p.Gly297Arg, XP_047278315.1:p.Gly297Arg, XP_047278312.1:p.Gly297Arg, XP_047278314.1:p.Gly297Arg, XP_047278318.1:p.Gly181Arg, XP_047278310.1:p.Gly297Arg

            6.

            rs1485455230 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              8:12185426 (GRCh38)
              8:12042935 (GRCh37)
              Canonical SPDI:
              NC_000008.11:12185425:G:A,NC_000008.11:12185425:G:T
              Gene:
              FAM86B1 (Varview), FAM85A (Varview)
              Functional Consequence:
              missense_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              HGVS:
              NC_000008.11:g.12185426G>A, NC_000008.11:g.12185426G>T, NC_000008.10:g.12042935G>A, NC_000008.10:g.12042935G>T, XM_006716257.5:c.761C>T, XM_006716257.5:c.761C>A, XM_006716257.4:c.761C>T, XM_006716257.4:c.761C>A, XM_006716257.3:c.761C>T, XM_006716257.3:c.761C>A, XM_006716257.2:c.761C>T, XM_006716257.2:c.761C>A, XM_006716257.1:c.761C>T, XM_006716257.1:c.761C>A, XM_006716256.5:c.842C>T, XM_006716256.5:c.842C>A, XM_006716256.4:c.842C>T, XM_006716256.4:c.842C>A, XM_006716256.3:c.842C>T, XM_006716256.3:c.842C>A, XM_006716256.2:c.842C>T, XM_006716256.2:c.842C>A, XM_006716256.1:c.842C>T, XM_006716256.1:c.842C>A, XM_006716260.5:c.659C>T, XM_006716260.5:c.659C>A, XM_006716260.4:c.659C>T, XM_006716260.4:c.659C>A, XM_006716260.3:c.659C>T, XM_006716260.3:c.659C>A, XM_006716260.2:c.659C>T, XM_006716260.2:c.659C>A, XM_006716260.1:c.659C>T, XM_006716260.1:c.659C>A, XM_011543842.4:c.617C>T, XM_011543842.4:c.617C>A, XM_011543842.3:c.617C>T, XM_011543842.3:c.617C>A, XM_011543842.2:c.617C>T, XM_011543842.2:c.617C>A, XM_011543842.1:c.617C>T, XM_011543842.1:c.617C>A, XM_011543843.4:c.542C>T, XM_011543843.4:c.542C>A, XM_011543843.3:c.542C>T, XM_011543843.3:c.542C>A, XM_011543843.2:c.542C>T, XM_011543843.2:c.542C>A, XM_011543843.1:c.542C>T, XM_011543843.1:c.542C>A, NM_001083537.4:c.740C>T, NM_001083537.4:c.740C>A, NM_001083537.3:c.740C>T, NM_001083537.3:c.740C>A, NM_001083537.2:c.740C>T, NM_001083537.2:c.740C>A, NM_001083537.1:c.740C>T, NM_001083537.1:c.740C>A, XM_017013916.3:c.740C>T, XM_017013916.3:c.740C>A, XM_017013916.2:c.740C>T, XM_017013916.2:c.740C>A, XM_017013916.1:c.740C>T, XM_017013916.1:c.740C>A, XM_017013917.3:c.659C>T, XM_017013917.3:c.659C>A, XM_017013917.2:c.659C>T, XM_017013917.2:c.659C>A, XM_017013917.1:c.659C>T, XM_017013917.1:c.659C>A, XM_017013918.3:c.629C>T, XM_017013918.3:c.629C>A, XM_017013918.2:c.629C>T, XM_017013918.2:c.629C>A, XM_017013918.1:c.629C>T, XM_017013918.1:c.629C>A, NR_003494.3:n.537C>T, NR_003494.3:n.537C>A, NR_003494.2:n.533C>T, NR_003494.2:n.533C>A, NR_003494.1:n.519C>T, NR_003494.1:n.519C>A, NM_032916.3:c.*12C>T, NM_032916.3:c.*12C>A, XM_024447315.2:c.506C>T, XM_024447315.2:c.506C>A, XM_024447315.1:c.506C>T, XM_024447315.1:c.506C>A, XM_024447313.2:c.617C>T, XM_024447313.2:c.617C>A, XM_024447313.1:c.617C>T, XM_024447313.1:c.617C>A, XM_024447314.2:c.617C>T, XM_024447314.2:c.617C>A, XM_024447314.1:c.617C>T, XM_024447314.1:c.617C>A, NM_032916.2:c.-708C>T, NM_032916.2:c.-708C>A, XM_047422355.1:c.677C>T, XM_047422355.1:c.677C>A, XM_047422357.1:c.677C>T, XM_047422357.1:c.677C>A, XM_047422354.1:c.677C>T, XM_047422354.1:c.677C>A, XM_047422359.1:c.677C>T, XM_047422359.1:c.677C>A, XM_047422356.1:c.677C>T, XM_047422356.1:c.677C>A, XM_047422358.1:c.677C>T, XM_047422358.1:c.677C>A, XM_047422362.1:c.329C>T, XM_047422362.1:c.329C>A, XM_047422361.1:c.*12C>T, XM_047422361.1:c.*12C>A, NM_032916.1:c.-708C>T, NM_032916.1:c.-708C>A, XP_006716320.1:p.Ala254Val, XP_006716320.1:p.Ala254Asp, XP_006716319.1:p.Ala281Val, XP_006716319.1:p.Ala281Asp, XP_006716323.1:p.Ala220Val, XP_006716323.1:p.Ala220Asp, XP_011542144.1:p.Ala206Val, XP_011542144.1:p.Ala206Asp, XP_011542145.1:p.Ala181Val, XP_011542145.1:p.Ala181Asp, NP_001077006.1:p.Ala247Val, NP_001077006.1:p.Ala247Asp, XP_016869405.1:p.Ala247Val, XP_016869405.1:p.Ala247Asp, XP_016869406.1:p.Ala220Val, XP_016869406.1:p.Ala220Asp, XP_016869407.1:p.Ala210Val, XP_016869407.1:p.Ala210Asp, XP_024303083.1:p.Ala169Val, XP_024303083.1:p.Ala169Asp, XP_024303081.1:p.Ala206Val, XP_024303081.1:p.Ala206Asp, XP_024303082.1:p.Ala206Val, XP_024303082.1:p.Ala206Asp, XP_047278311.1:p.Ala226Val, XP_047278311.1:p.Ala226Asp, XP_047278313.1:p.Ala226Val, XP_047278313.1:p.Ala226Asp, XP_047278310.1:p.Ala226Val, XP_047278310.1:p.Ala226Asp, XP_047278315.1:p.Ala226Val, XP_047278315.1:p.Ala226Asp, XP_047278312.1:p.Ala226Val, XP_047278312.1:p.Ala226Asp, XP_047278314.1:p.Ala226Val, XP_047278314.1:p.Ala226Asp, XP_047278318.1:p.Ala110Val, XP_047278318.1:p.Ala110Asp

              7.

              rs1483944170 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AG>- [Show Flanks]
                Chromosome:
                8:12186811 (GRCh38)
                8:12044320 (GRCh37)
                Canonical SPDI:
                NC_000008.11:12186807:GAGAG:GAG
                Gene:
                FAM86B1 (Varview), FAM85A (Varview)
                Functional Consequence:
                5_prime_UTR_variant,frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
                HGVS:
                NC_000008.11:g.12186809AG[1], NC_000008.10:g.12044318AG[1], XM_006716257.5:c.286_287del, XM_006716257.4:c.286_287del, XM_006716257.3:c.286_287del, XM_006716257.2:c.286_287del, XM_006716257.1:c.286_287del, XM_006716256.5:c.367_368del, XM_006716256.4:c.367_368del, XM_006716256.3:c.367_368del, XM_006716256.2:c.367_368del, XM_006716256.1:c.367_368del, XM_006716260.5:c.184_185del, XM_006716260.4:c.184_185del, XM_006716260.3:c.184_185del, XM_006716260.2:c.184_185del, XM_006716260.1:c.184_185del, XM_011543842.4:c.60_61del, XM_011543842.3:c.60_61del, XM_011543842.2:c.60_61del, XM_011543842.1:c.60_61del, XM_011543843.4:c.67_68del, XM_011543843.3:c.67_68del, XM_011543843.2:c.67_68del, XM_011543843.1:c.67_68del, NM_001083537.4:c.265_266del, NM_001083537.3:c.265_266del, NM_001083537.2:c.265_266del, NM_001083537.1:c.265_266del, XM_017013916.3:c.265_266del, XM_017013916.2:c.265_266del, XM_017013916.1:c.265_266del, XM_017013917.3:c.184_185del, XM_017013917.2:c.184_185del, XM_017013917.1:c.184_185del, XM_017013918.3:c.154_155del, XM_017013918.2:c.154_155del, XM_017013918.1:c.154_155del, NR_003494.3:n.326TC[1], NR_003494.2:n.322TC[1], NR_003494.1:n.308TC[1], NM_032916.3:c.265_266del, XM_024447313.2:c.60_61del, XM_024447313.1:c.60_61del, XM_024447315.2:c.-54TC[1], XM_024447315.1:c.-54TC[1], XM_024447314.2:c.60_61del, XM_024447314.1:c.60_61del, NM_032916.2:c.-1186TC[1], XM_047422355.1:c.120_121del, XM_047422357.1:c.120_121del, XM_047422359.1:c.120_121del, XM_047422356.1:c.120_121del, XM_047422362.1:c.120_121del, NR_146925.1:n.1074AG[1], XM_047422358.1:c.120_121del, XM_047422361.1:c.367_368del, XM_047422354.1:c.120_121del, NM_032916.1:c.-1186TC[1], XP_006716320.1:p.Ser96fs, XP_006716319.1:p.Ser123fs, XP_006716323.1:p.Ser62fs, XP_011542144.1:p.Pro21fs, XP_011542145.1:p.Ser23fs, NP_001077006.1:p.Ser89fs, XP_016869405.1:p.Ser89fs, XP_016869406.1:p.Ser62fs, XP_016869407.1:p.Ser52fs, XP_024303081.1:p.Pro21fs, XP_024303082.1:p.Pro21fs, XP_047278311.1:p.Pro41fs, XP_047278313.1:p.Pro41fs, XP_047278315.1:p.Pro41fs, XP_047278312.1:p.Pro41fs, XP_047278318.1:p.Pro41fs, XP_047278314.1:p.Pro41fs, XP_047278317.1:p.Ser123fs, XP_047278310.1:p.Pro41fs

                8.

                rs1480895744 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  8:12189833 (GRCh38)
                  8:12047342 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:12189832:C:A
                  Gene:
                  FAM86B1 (Varview), FAM85A (Varview)
                  Functional Consequence:
                  missense_variant,non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.18336/2175 (ALFA)
                  C=0./0 (SGDP_PRJ)
                  A=0.1195/1555 (TOMMO)
                  A=0.13119/498 (GnomAD)
                  A=0.13297/1356 (GnomAD_exomes)
                  A=0.17552/1124 (1000Genomes)
                  A=0.18519/400 (KOREAN)
                  HGVS:
                  NC_000008.11:g.12189833C>A, NC_000008.10:g.12047342C>A, XM_006716256.5:c.215G>T, XM_006716256.4:c.215G>T, XM_006716256.3:c.215G>T, XM_006716256.2:c.215G>T, XM_006716256.1:c.215G>T, XM_011543842.4:c.10G>T, XM_011543842.3:c.10G>T, XM_011543842.2:c.10G>T, XM_011543842.1:c.10G>T, NM_001083537.4:c.215G>T, NM_001083537.3:c.215G>T, NM_001083537.2:c.215G>T, NM_001083537.1:c.215G>T, XM_017013916.3:c.215G>T, XM_017013916.2:c.215G>T, XM_017013916.1:c.215G>T, NR_003494.3:n.278G>T, NR_003494.2:n.274G>T, NR_003494.1:n.260G>T, NM_032916.3:c.215G>T, XM_024447313.2:c.10G>T, XM_024447313.1:c.10G>T, XM_024447314.2:c.10G>T, XM_024447314.1:c.10G>T, NM_032916.2:c.-1234G>T, XM_047422355.1:c.-1522G>T, XM_047422357.1:c.-1522G>T, XM_047422362.1:c.-1522G>T, XM_047422358.1:c.-1522G>T, XM_047422361.1:c.215G>T, XM_047422354.1:c.-1522G>T, NM_032916.1:c.-1234G>T, XP_006716319.1:p.Cys72Phe, XP_011542144.1:p.Ala4Ser, NP_001077006.1:p.Cys72Phe, XP_016869405.1:p.Cys72Phe, XP_024303081.1:p.Ala4Ser, XP_024303082.1:p.Ala4Ser, XP_047278317.1:p.Cys72Phe

                  9.

                  rs1480769474 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    8:12194020 (GRCh38)
                    8:12051529 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:12194019:C:A,NC_000008.11:12194019:C:T
                    Gene:
                    FAM86B1 (Varview), FAM85A (Varview)
                    Functional Consequence:
                    missense_variant,synonymous_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.00005/1 (ALFA)
                    A=0.00031/2 (1000Genomes)
                    HGVS:
                    NC_000008.11:g.12194020C>A, NC_000008.11:g.12194020C>T, NC_000008.10:g.12051529C>A, NC_000008.10:g.12051529C>T, XM_006716257.5:c.51G>T, XM_006716257.5:c.51G>A, XM_006716257.4:c.51G>T, XM_006716257.4:c.51G>A, XM_006716257.3:c.51G>T, XM_006716257.3:c.51G>A, XM_006716257.2:c.51G>T, XM_006716257.2:c.51G>A, XM_006716257.1:c.51G>T, XM_006716257.1:c.51G>A, XM_006716256.5:c.51G>T, XM_006716256.5:c.51G>A, XM_006716256.4:c.51G>T, XM_006716256.4:c.51G>A, XM_006716256.3:c.51G>T, XM_006716256.3:c.51G>A, XM_006716256.2:c.51G>T, XM_006716256.2:c.51G>A, XM_006716256.1:c.51G>T, XM_006716256.1:c.51G>A, XM_006716260.5:c.51G>T, XM_006716260.5:c.51G>A, XM_006716260.4:c.51G>T, XM_006716260.4:c.51G>A, XM_006716260.3:c.51G>T, XM_006716260.3:c.51G>A, XM_006716260.2:c.51G>T, XM_006716260.2:c.51G>A, XM_006716260.1:c.51G>T, XM_006716260.1:c.51G>A, NM_001083537.4:c.51G>T, NM_001083537.4:c.51G>A, NM_001083537.3:c.51G>T, NM_001083537.3:c.51G>A, NM_001083537.2:c.51G>T, NM_001083537.2:c.51G>A, NM_001083537.1:c.51G>T, NM_001083537.1:c.51G>A, XM_017013916.3:c.51G>T, XM_017013916.3:c.51G>A, XM_017013916.2:c.51G>T, XM_017013916.2:c.51G>A, XM_017013916.1:c.51G>T, XM_017013916.1:c.51G>A, XM_017013917.3:c.51G>T, XM_017013917.3:c.51G>A, XM_017013917.2:c.51G>T, XM_017013917.2:c.51G>A, XM_017013917.1:c.51G>T, XM_017013917.1:c.51G>A, XM_017013918.3:c.51G>T, XM_017013918.3:c.51G>A, XM_017013918.2:c.51G>T, XM_017013918.2:c.51G>A, XM_017013918.1:c.51G>T, XM_017013918.1:c.51G>A, NR_003494.3:n.114G>T, NR_003494.3:n.114G>A, NR_003494.2:n.110G>T, NR_003494.2:n.110G>A, NR_003494.1:n.96G>T, NR_003494.1:n.96G>A, NM_032916.3:c.51G>T, NM_032916.3:c.51G>A, XM_047422359.1:c.-1605G>T, XM_047422359.1:c.-1605G>A, XM_047422361.1:c.51G>T, XM_047422361.1:c.51G>A, XP_006716320.1:p.Glu17Asp, XP_006716319.1:p.Glu17Asp, XP_006716323.1:p.Glu17Asp, NP_001077006.1:p.Glu17Asp, XP_016869405.1:p.Glu17Asp, XP_016869406.1:p.Glu17Asp, XP_016869407.1:p.Glu17Asp, XP_047278317.1:p.Glu17Asp

                    10.

                    rs1480719876 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      8:12189877 (GRCh38)
                      8:12047386 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:12189876:A:T
                      Gene:
                      FAM86B1 (Varview), FAM85A (Varview)
                      Functional Consequence:
                      missense_variant,non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,intron_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.00009/1 (GnomAD_exomes)
                      HGVS:
                      NC_000008.11:g.12189877A>T, NC_000008.10:g.12047386A>T, XM_006716256.5:c.171T>A, XM_006716256.4:c.171T>A, XM_006716256.3:c.171T>A, XM_006716256.2:c.171T>A, XM_006716256.1:c.171T>A, XM_011543842.4:c.-35T>A, XM_011543842.3:c.-35T>A, XM_011543842.2:c.-35T>A, XM_011543842.1:c.-35T>A, NM_001083537.4:c.171T>A, NM_001083537.3:c.171T>A, NM_001083537.2:c.171T>A, NM_001083537.1:c.171T>A, XM_017013916.3:c.171T>A, XM_017013916.2:c.171T>A, XM_017013916.1:c.171T>A, NR_003494.3:n.234T>A, NR_003494.2:n.230T>A, NR_003494.1:n.216T>A, NM_032916.3:c.171T>A, XM_024447313.2:c.-35T>A, XM_024447313.1:c.-35T>A, XM_024447314.2:c.-35T>A, XM_024447314.1:c.-35T>A, NM_032916.2:c.-1278T>A, XM_047422355.1:c.-1566T>A, XM_047422357.1:c.-1566T>A, XM_047422362.1:c.-1566T>A, XM_047422358.1:c.-1566T>A, XM_047422361.1:c.171T>A, XM_047422354.1:c.-1566T>A, NM_032916.1:c.-1278T>A, XP_006716319.1:p.His57Gln, NP_001077006.1:p.His57Gln, XP_016869405.1:p.His57Gln, XP_047278317.1:p.His57Gln

                      11.

                      rs1477822115 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        8:12186574 (GRCh38)
                        8:12044083 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:12186573:C:T
                        Gene:
                        FAM86B1 (Varview), FAM85A (Varview)
                        Functional Consequence:
                        missense_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0.000084/1 (ALFA)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000008.11:g.12186574C>T, NC_000008.10:g.12044083C>T, XM_006716257.5:c.439G>A, XM_006716257.4:c.439G>A, XM_006716257.3:c.439G>A, XM_006716257.2:c.439G>A, XM_006716257.1:c.439G>A, XM_006716256.5:c.520G>A, XM_006716256.4:c.520G>A, XM_006716256.3:c.520G>A, XM_006716256.2:c.520G>A, XM_006716256.1:c.520G>A, XM_006716260.5:c.337G>A, XM_006716260.4:c.337G>A, XM_006716260.3:c.337G>A, XM_006716260.2:c.337G>A, XM_006716260.1:c.337G>A, XM_011543842.4:c.295G>A, XM_011543842.3:c.295G>A, XM_011543842.2:c.295G>A, XM_011543842.1:c.295G>A, XM_011543843.4:c.220G>A, XM_011543843.3:c.220G>A, XM_011543843.2:c.220G>A, XM_011543843.1:c.220G>A, NM_001083537.4:c.418G>A, NM_001083537.3:c.418G>A, NM_001083537.2:c.418G>A, NM_001083537.1:c.418G>A, XM_017013916.3:c.418G>A, XM_017013916.2:c.418G>A, XM_017013916.1:c.418G>A, XM_017013917.3:c.337G>A, XM_017013917.2:c.337G>A, XM_017013917.1:c.337G>A, XM_017013918.3:c.307G>A, XM_017013918.2:c.307G>A, XM_017013918.1:c.307G>A, XM_024447313.2:c.295G>A, XM_024447313.1:c.295G>A, XM_024447315.2:c.184G>A, XM_024447315.1:c.184G>A, XM_024447314.2:c.295G>A, XM_024447314.1:c.295G>A, NM_032916.2:c.-1031G>A, XM_047422355.1:c.355G>A, XM_047422357.1:c.355G>A, XM_047422359.1:c.355G>A, XM_047422356.1:c.355G>A, NR_146925.1:n.839C>T, XM_047422358.1:c.355G>A, XM_047422354.1:c.355G>A, NM_032916.1:c.-1031G>A, XP_006716320.1:p.Ala147Thr, XP_006716319.1:p.Ala174Thr, XP_006716323.1:p.Ala113Thr, XP_011542144.1:p.Ala99Thr, XP_011542145.1:p.Ala74Thr, NP_001077006.1:p.Ala140Thr, XP_016869405.1:p.Ala140Thr, XP_016869406.1:p.Ala113Thr, XP_016869407.1:p.Ala103Thr, XP_024303081.1:p.Ala99Thr, XP_024303083.1:p.Ala62Thr, XP_024303082.1:p.Ala99Thr, XP_047278311.1:p.Ala119Thr, XP_047278313.1:p.Ala119Thr, XP_047278315.1:p.Ala119Thr, XP_047278312.1:p.Ala119Thr, XP_047278314.1:p.Ala119Thr, XP_047278310.1:p.Ala119Thr

                        12.

                        rs1477357507 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          8:12183621 (GRCh38)
                          8:12041130 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:12183620:C:T
                          Gene:
                          FAM86B1 (Varview)
                          Functional Consequence:
                          synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.00008/1 (ALFA)
                          T=0.00007/6 (GnomAD_exomes)
                          T=0.00007/7 (GnomAD)
                          HGVS:
                          NC_000008.11:g.12183621C>T, NC_000008.10:g.12041130C>T, XM_006716257.5:c.*46G>A, XM_006716257.4:c.*46G>A, XM_006716257.3:c.*46G>A, XM_006716257.2:c.*46G>A, XM_006716257.1:c.*46G>A, XM_006716256.5:c.978G>A, XM_006716256.4:c.978G>A, XM_006716256.3:c.978G>A, XM_006716256.2:c.978G>A, XM_006716256.1:c.978G>A, XM_006716260.5:c.795G>A, XM_006716260.4:c.795G>A, XM_006716260.3:c.795G>A, XM_006716260.2:c.795G>A, XM_006716260.1:c.795G>A, XM_011543842.4:c.*46G>A, XM_011543842.3:c.*46G>A, XM_011543842.2:c.*46G>A, XM_011543842.1:c.*46G>A, XM_011543843.4:c.*46G>A, XM_011543843.3:c.*46G>A, XM_011543843.2:c.*46G>A, XM_011543843.1:c.*46G>A, NM_001083537.4:c.876G>A, NM_001083537.3:c.876G>A, NM_001083537.2:c.876G>A, NM_001083537.1:c.876G>A, XM_017013916.3:c.*46G>A, XM_017013916.2:c.*46G>A, XM_017013916.1:c.*46G>A, XM_017013917.3:c.*46G>A, XM_017013917.2:c.*46G>A, XM_017013917.1:c.*46G>A, XM_017013918.3:c.*46G>A, XM_017013918.2:c.*46G>A, XM_017013918.1:c.*46G>A, NR_003494.3:n.673G>A, NR_003494.2:n.669G>A, NR_003494.1:n.655G>A, NM_032916.3:c.*148G>A, XM_024447315.2:c.*46G>A, XM_024447315.1:c.*46G>A, XM_024447313.2:c.*46G>A, XM_024447313.1:c.*46G>A, XM_024447314.2:c.*46G>A, XM_024447314.1:c.*46G>A, XM_047422355.1:c.*46G>A, XM_047422357.1:c.*46G>A, XM_047422359.1:c.*46G>A, XM_047422356.1:c.*46G>A, XM_047422358.1:c.*46G>A, XM_047422362.1:c.*46G>A, XM_047422354.1:c.*46G>A, NM_032916.2:c.-572G>A, NM_032916.1:c.-572G>A

                          13.

                          rs1476237851 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            8:12186786 (GRCh38)
                            8:12044295 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:12186785:G:A
                            Gene:
                            FAM86B1 (Varview), FAM85A (Varview)
                            Functional Consequence:
                            missense_variant,synonymous_variant,non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000008.11:g.12186786G>A, NC_000008.10:g.12044295G>A, XM_006716257.5:c.309C>T, XM_006716257.4:c.309C>T, XM_006716257.3:c.309C>T, XM_006716257.2:c.309C>T, XM_006716257.1:c.309C>T, XM_006716256.5:c.390C>T, XM_006716256.4:c.390C>T, XM_006716256.3:c.390C>T, XM_006716256.2:c.390C>T, XM_006716256.1:c.390C>T, XM_006716260.5:c.207C>T, XM_006716260.4:c.207C>T, XM_006716260.3:c.207C>T, XM_006716260.2:c.207C>T, XM_006716260.1:c.207C>T, XM_011543842.4:c.83C>T, XM_011543842.3:c.83C>T, XM_011543842.2:c.83C>T, XM_011543842.1:c.83C>T, XM_011543843.4:c.90C>T, XM_011543843.3:c.90C>T, XM_011543843.2:c.90C>T, XM_011543843.1:c.90C>T, NM_001083537.4:c.288C>T, NM_001083537.3:c.288C>T, NM_001083537.2:c.288C>T, NM_001083537.1:c.288C>T, XM_017013916.3:c.288C>T, XM_017013916.2:c.288C>T, XM_017013916.1:c.288C>T, XM_017013917.3:c.207C>T, XM_017013917.2:c.207C>T, XM_017013917.1:c.207C>T, XM_017013918.3:c.177C>T, XM_017013918.2:c.177C>T, XM_017013918.1:c.177C>T, NR_003494.3:n.351C>T, NR_003494.2:n.347C>T, NR_003494.1:n.333C>T, NM_032916.3:c.288C>T, XM_024447313.2:c.83C>T, XM_024447313.1:c.83C>T, XM_024447315.2:c.-29C>T, XM_024447315.1:c.-29C>T, XM_024447314.2:c.83C>T, XM_024447314.1:c.83C>T, NM_032916.2:c.-1161C>T, XM_047422355.1:c.143C>T, XM_047422357.1:c.143C>T, XM_047422359.1:c.143C>T, XM_047422356.1:c.143C>T, XM_047422362.1:c.143C>T, NR_146925.1:n.1051G>A, XM_047422358.1:c.143C>T, XM_047422361.1:c.390C>T, XM_047422354.1:c.143C>T, NM_032916.1:c.-1161C>T, XP_011542144.1:p.Pro28Leu, XP_024303081.1:p.Pro28Leu, XP_024303082.1:p.Pro28Leu, XP_047278311.1:p.Pro48Leu, XP_047278313.1:p.Pro48Leu, XP_047278315.1:p.Pro48Leu, XP_047278312.1:p.Pro48Leu, XP_047278318.1:p.Pro48Leu, XP_047278314.1:p.Pro48Leu, XP_047278310.1:p.Pro48Leu

                            14.

                            rs1475658645 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,G,T [Show Flanks]
                              Chromosome:
                              8:12183696 (GRCh38)
                              8:12041205 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:12183695:C:A,NC_000008.11:12183695:C:G,NC_000008.11:12183695:C:T
                              Gene:
                              FAM86B1 (Varview)
                              Functional Consequence:
                              missense_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=0.000008/2 (TOPMED)
                              A=0.000009/1 (GnomAD_exomes)
                              HGVS:
                              NC_000008.11:g.12183696C>A, NC_000008.11:g.12183696C>G, NC_000008.11:g.12183696C>T, NC_000008.10:g.12041205C>A, NC_000008.10:g.12041205C>G, NC_000008.10:g.12041205C>T, XM_006716257.5:c.964G>T, XM_006716257.5:c.964G>C, XM_006716257.5:c.964G>A, XM_006716257.4:c.964G>T, XM_006716257.4:c.964G>C, XM_006716257.4:c.964G>A, XM_006716257.3:c.964G>T, XM_006716257.3:c.964G>C, XM_006716257.3:c.964G>A, XM_006716257.2:c.964G>T, XM_006716257.2:c.964G>C, XM_006716257.2:c.964G>A, XM_006716257.1:c.964G>T, XM_006716257.1:c.964G>C, XM_006716257.1:c.964G>A, XM_006716256.5:c.903G>T, XM_006716256.5:c.903G>C, XM_006716256.5:c.903G>A, XM_006716256.4:c.903G>T, XM_006716256.4:c.903G>C, XM_006716256.4:c.903G>A, XM_006716256.3:c.903G>T, XM_006716256.3:c.903G>C, XM_006716256.3:c.903G>A, XM_006716256.2:c.903G>T, XM_006716256.2:c.903G>C, XM_006716256.2:c.903G>A, XM_006716256.1:c.903G>T, XM_006716256.1:c.903G>C, XM_006716256.1:c.903G>A, XM_006716260.5:c.720G>T, XM_006716260.5:c.720G>C, XM_006716260.5:c.720G>A, XM_006716260.4:c.720G>T, XM_006716260.4:c.720G>C, XM_006716260.4:c.720G>A, XM_006716260.3:c.720G>T, XM_006716260.3:c.720G>C, XM_006716260.3:c.720G>A, XM_006716260.2:c.720G>T, XM_006716260.2:c.720G>C, XM_006716260.2:c.720G>A, XM_006716260.1:c.720G>T, XM_006716260.1:c.720G>C, XM_006716260.1:c.720G>A, XM_011543842.4:c.820G>T, XM_011543842.4:c.820G>C, XM_011543842.4:c.820G>A, XM_011543842.3:c.820G>T, XM_011543842.3:c.820G>C, XM_011543842.3:c.820G>A, XM_011543842.2:c.820G>T, XM_011543842.2:c.820G>C, XM_011543842.2:c.820G>A, XM_011543842.1:c.820G>T, XM_011543842.1:c.820G>C, XM_011543842.1:c.820G>A, XM_011543843.4:c.745G>T, XM_011543843.4:c.745G>C, XM_011543843.4:c.745G>A, XM_011543843.3:c.745G>T, XM_011543843.3:c.745G>C, XM_011543843.3:c.745G>A, XM_011543843.2:c.745G>T, XM_011543843.2:c.745G>C, XM_011543843.2:c.745G>A, XM_011543843.1:c.745G>T, XM_011543843.1:c.745G>C, XM_011543843.1:c.745G>A, NM_001083537.4:c.801G>T, NM_001083537.4:c.801G>C, NM_001083537.4:c.801G>A, NM_001083537.3:c.801G>T, NM_001083537.3:c.801G>C, NM_001083537.3:c.801G>A, NM_001083537.2:c.801G>T, NM_001083537.2:c.801G>C, NM_001083537.2:c.801G>A, NM_001083537.1:c.801G>T, NM_001083537.1:c.801G>C, NM_001083537.1:c.801G>A, XM_017013916.3:c.943G>T, XM_017013916.3:c.943G>C, XM_017013916.3:c.943G>A, XM_017013916.2:c.943G>T, XM_017013916.2:c.943G>C, XM_017013916.2:c.943G>A, XM_017013916.1:c.943G>T, XM_017013916.1:c.943G>C, XM_017013916.1:c.943G>A, XM_017013917.3:c.862G>T, XM_017013917.3:c.862G>C, XM_017013917.3:c.862G>A, XM_017013917.2:c.862G>T, XM_017013917.2:c.862G>C, XM_017013917.2:c.862G>A, XM_017013917.1:c.862G>T, XM_017013917.1:c.862G>C, XM_017013917.1:c.862G>A, XM_017013918.3:c.832G>T, XM_017013918.3:c.832G>C, XM_017013918.3:c.832G>A, XM_017013918.2:c.832G>T, XM_017013918.2:c.832G>C, XM_017013918.2:c.832G>A, XM_017013918.1:c.832G>T, XM_017013918.1:c.832G>C, XM_017013918.1:c.832G>A, NR_003494.3:n.598G>T, NR_003494.3:n.598G>C, NR_003494.3:n.598G>A, NR_003494.2:n.594G>T, NR_003494.2:n.594G>C, NR_003494.2:n.594G>A, NR_003494.1:n.580G>T, NR_003494.1:n.580G>C, NR_003494.1:n.580G>A, NM_032916.3:c.*73G>T, NM_032916.3:c.*73G>C, NM_032916.3:c.*73G>A, XM_024447315.2:c.709G>T, XM_024447315.2:c.709G>C, XM_024447315.2:c.709G>A, XM_024447315.1:c.709G>T, XM_024447315.1:c.709G>C, XM_024447315.1:c.709G>A, XM_024447313.2:c.820G>T, XM_024447313.2:c.820G>C, XM_024447313.2:c.820G>A, XM_024447313.1:c.820G>T, XM_024447313.1:c.820G>C, XM_024447313.1:c.820G>A, XM_024447314.2:c.820G>T, XM_024447314.2:c.820G>C, XM_024447314.2:c.820G>A, XM_024447314.1:c.820G>T, XM_024447314.1:c.820G>C, XM_024447314.1:c.820G>A, XM_047422355.1:c.880G>T, XM_047422355.1:c.880G>C, XM_047422355.1:c.880G>A, XM_047422357.1:c.880G>T, XM_047422357.1:c.880G>C, XM_047422357.1:c.880G>A, XM_047422359.1:c.880G>T, XM_047422359.1:c.880G>C, XM_047422359.1:c.880G>A, XM_047422356.1:c.880G>T, XM_047422356.1:c.880G>C, XM_047422356.1:c.880G>A, XM_047422358.1:c.880G>T, XM_047422358.1:c.880G>C, XM_047422358.1:c.880G>A, XM_047422362.1:c.532G>T, XM_047422362.1:c.532G>C, XM_047422362.1:c.532G>A, XM_047422354.1:c.880G>T, XM_047422354.1:c.880G>C, XM_047422354.1:c.880G>A, NM_032916.2:c.-647G>T, NM_032916.2:c.-647G>C, NM_032916.2:c.-647G>A, NM_032916.1:c.-647G>T, NM_032916.1:c.-647G>C, NM_032916.1:c.-647G>A, XP_006716320.1:p.Asp322Tyr, XP_006716320.1:p.Asp322His, XP_006716320.1:p.Asp322Asn, XP_011542144.1:p.Asp274Tyr, XP_011542144.1:p.Asp274His, XP_011542144.1:p.Asp274Asn, XP_011542145.1:p.Asp249Tyr, XP_011542145.1:p.Asp249His, XP_011542145.1:p.Asp249Asn, XP_016869405.1:p.Asp315Tyr, XP_016869405.1:p.Asp315His, XP_016869405.1:p.Asp315Asn, XP_016869406.1:p.Asp288Tyr, XP_016869406.1:p.Asp288His, XP_016869406.1:p.Asp288Asn, XP_016869407.1:p.Asp278Tyr, XP_016869407.1:p.Asp278His, XP_016869407.1:p.Asp278Asn, XP_024303083.1:p.Asp237Tyr, XP_024303083.1:p.Asp237His, XP_024303083.1:p.Asp237Asn, XP_024303081.1:p.Asp274Tyr, XP_024303081.1:p.Asp274His, XP_024303081.1:p.Asp274Asn, XP_024303082.1:p.Asp274Tyr, XP_024303082.1:p.Asp274His, XP_024303082.1:p.Asp274Asn, XP_047278311.1:p.Asp294Tyr, XP_047278311.1:p.Asp294His, XP_047278311.1:p.Asp294Asn, XP_047278313.1:p.Asp294Tyr, XP_047278313.1:p.Asp294His, XP_047278313.1:p.Asp294Asn, XP_047278315.1:p.Asp294Tyr, XP_047278315.1:p.Asp294His, XP_047278315.1:p.Asp294Asn, XP_047278312.1:p.Asp294Tyr, XP_047278312.1:p.Asp294His, XP_047278312.1:p.Asp294Asn, XP_047278314.1:p.Asp294Tyr, XP_047278314.1:p.Asp294His, XP_047278314.1:p.Asp294Asn, XP_047278318.1:p.Asp178Tyr, XP_047278318.1:p.Asp178His, XP_047278318.1:p.Asp178Asn, XP_047278310.1:p.Asp294Tyr, XP_047278310.1:p.Asp294His, XP_047278310.1:p.Asp294Asn

                              15.

                              rs1475158902 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                8:12186580 (GRCh38)
                                8:12044089 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:12186579:C:T
                                Gene:
                                FAM86B1 (Varview), FAM85A (Varview)
                                Functional Consequence:
                                missense_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000008.11:g.12186580C>T, NC_000008.10:g.12044089C>T, XM_006716257.5:c.433G>A, XM_006716257.4:c.433G>A, XM_006716257.3:c.433G>A, XM_006716257.2:c.433G>A, XM_006716257.1:c.433G>A, XM_006716256.5:c.514G>A, XM_006716256.4:c.514G>A, XM_006716256.3:c.514G>A, XM_006716256.2:c.514G>A, XM_006716256.1:c.514G>A, XM_006716260.5:c.331G>A, XM_006716260.4:c.331G>A, XM_006716260.3:c.331G>A, XM_006716260.2:c.331G>A, XM_006716260.1:c.331G>A, XM_011543842.4:c.289G>A, XM_011543842.3:c.289G>A, XM_011543842.2:c.289G>A, XM_011543842.1:c.289G>A, XM_011543843.4:c.214G>A, XM_011543843.3:c.214G>A, XM_011543843.2:c.214G>A, XM_011543843.1:c.214G>A, NM_001083537.4:c.412G>A, NM_001083537.3:c.412G>A, NM_001083537.2:c.412G>A, NM_001083537.1:c.412G>A, XM_017013916.3:c.412G>A, XM_017013916.2:c.412G>A, XM_017013916.1:c.412G>A, XM_017013917.3:c.331G>A, XM_017013917.2:c.331G>A, XM_017013917.1:c.331G>A, XM_017013918.3:c.301G>A, XM_017013918.2:c.301G>A, XM_017013918.1:c.301G>A, XM_024447313.2:c.289G>A, XM_024447313.1:c.289G>A, XM_024447315.2:c.178G>A, XM_024447315.1:c.178G>A, XM_024447314.2:c.289G>A, XM_024447314.1:c.289G>A, NM_032916.2:c.-1037G>A, XM_047422355.1:c.349G>A, XM_047422357.1:c.349G>A, XM_047422359.1:c.349G>A, XM_047422356.1:c.349G>A, NR_146925.1:n.845C>T, XM_047422358.1:c.349G>A, XM_047422354.1:c.349G>A, NM_032916.1:c.-1037G>A, XP_006716320.1:p.Gly145Ser, XP_006716319.1:p.Gly172Ser, XP_006716323.1:p.Gly111Ser, XP_011542144.1:p.Gly97Ser, XP_011542145.1:p.Gly72Ser, NP_001077006.1:p.Gly138Ser, XP_016869405.1:p.Gly138Ser, XP_016869406.1:p.Gly111Ser, XP_016869407.1:p.Gly101Ser, XP_024303081.1:p.Gly97Ser, XP_024303083.1:p.Gly60Ser, XP_024303082.1:p.Gly97Ser, XP_047278311.1:p.Gly117Ser, XP_047278313.1:p.Gly117Ser, XP_047278315.1:p.Gly117Ser, XP_047278312.1:p.Gly117Ser, XP_047278314.1:p.Gly117Ser, XP_047278310.1:p.Gly117Ser

                                16.

                                rs1474079380 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  8:12185398 (GRCh38)
                                  8:12042907 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:12185397:G:A,NC_000008.11:12185397:G:T
                                  Gene:
                                  FAM86B1 (Varview), FAM85A (Varview)
                                  Functional Consequence:
                                  synonymous_variant,non_coding_transcript_variant,upstream_transcript_variant,stop_gained,2KB_upstream_variant,3_prime_UTR_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  A=0.000013/3 (GnomAD_exomes)
                                  HGVS:
                                  NC_000008.11:g.12185398G>A, NC_000008.11:g.12185398G>T, NC_000008.10:g.12042907G>A, NC_000008.10:g.12042907G>T, XM_006716257.5:c.789C>T, XM_006716257.5:c.789C>A, XM_006716257.4:c.789C>T, XM_006716257.4:c.789C>A, XM_006716257.3:c.789C>T, XM_006716257.3:c.789C>A, XM_006716257.2:c.789C>T, XM_006716257.2:c.789C>A, XM_006716257.1:c.789C>T, XM_006716257.1:c.789C>A, XM_006716256.5:c.870C>T, XM_006716256.5:c.870C>A, XM_006716256.4:c.870C>T, XM_006716256.4:c.870C>A, XM_006716256.3:c.870C>T, XM_006716256.3:c.870C>A, XM_006716256.2:c.870C>T, XM_006716256.2:c.870C>A, XM_006716256.1:c.870C>T, XM_006716256.1:c.870C>A, XM_006716260.5:c.687C>T, XM_006716260.5:c.687C>A, XM_006716260.4:c.687C>T, XM_006716260.4:c.687C>A, XM_006716260.3:c.687C>T, XM_006716260.3:c.687C>A, XM_006716260.2:c.687C>T, XM_006716260.2:c.687C>A, XM_006716260.1:c.687C>T, XM_006716260.1:c.687C>A, XM_011543842.4:c.645C>T, XM_011543842.4:c.645C>A, XM_011543842.3:c.645C>T, XM_011543842.3:c.645C>A, XM_011543842.2:c.645C>T, XM_011543842.2:c.645C>A, XM_011543842.1:c.645C>T, XM_011543842.1:c.645C>A, XM_011543843.4:c.570C>T, XM_011543843.4:c.570C>A, XM_011543843.3:c.570C>T, XM_011543843.3:c.570C>A, XM_011543843.2:c.570C>T, XM_011543843.2:c.570C>A, XM_011543843.1:c.570C>T, XM_011543843.1:c.570C>A, NM_001083537.4:c.768C>T, NM_001083537.4:c.768C>A, NM_001083537.3:c.768C>T, NM_001083537.3:c.768C>A, NM_001083537.2:c.768C>T, NM_001083537.2:c.768C>A, NM_001083537.1:c.768C>T, NM_001083537.1:c.768C>A, XM_017013916.3:c.768C>T, XM_017013916.3:c.768C>A, XM_017013916.2:c.768C>T, XM_017013916.2:c.768C>A, XM_017013916.1:c.768C>T, XM_017013916.1:c.768C>A, XM_017013917.3:c.687C>T, XM_017013917.3:c.687C>A, XM_017013917.2:c.687C>T, XM_017013917.2:c.687C>A, XM_017013917.1:c.687C>T, XM_017013917.1:c.687C>A, XM_017013918.3:c.657C>T, XM_017013918.3:c.657C>A, XM_017013918.2:c.657C>T, XM_017013918.2:c.657C>A, XM_017013918.1:c.657C>T, XM_017013918.1:c.657C>A, NR_003494.3:n.565C>T, NR_003494.3:n.565C>A, NR_003494.2:n.561C>T, NR_003494.2:n.561C>A, NR_003494.1:n.547C>T, NR_003494.1:n.547C>A, NM_032916.3:c.*40C>T, NM_032916.3:c.*40C>A, XM_024447315.2:c.534C>T, XM_024447315.2:c.534C>A, XM_024447315.1:c.534C>T, XM_024447315.1:c.534C>A, XM_024447313.2:c.645C>T, XM_024447313.2:c.645C>A, XM_024447313.1:c.645C>T, XM_024447313.1:c.645C>A, XM_024447314.2:c.645C>T, XM_024447314.2:c.645C>A, XM_024447314.1:c.645C>T, XM_024447314.1:c.645C>A, NM_032916.2:c.-680C>T, NM_032916.2:c.-680C>A, XM_047422355.1:c.705C>T, XM_047422355.1:c.705C>A, XM_047422357.1:c.705C>T, XM_047422357.1:c.705C>A, XM_047422354.1:c.705C>T, XM_047422354.1:c.705C>A, XM_047422359.1:c.705C>T, XM_047422359.1:c.705C>A, XM_047422356.1:c.705C>T, XM_047422356.1:c.705C>A, XM_047422358.1:c.705C>T, XM_047422358.1:c.705C>A, XM_047422362.1:c.357C>T, XM_047422362.1:c.357C>A, XM_047422361.1:c.*40C>T, XM_047422361.1:c.*40C>A, NM_032916.1:c.-680C>T, NM_032916.1:c.-680C>A, XP_006716320.1:p.Cys263Ter, XP_006716319.1:p.Cys290Ter, XP_006716323.1:p.Cys229Ter, XP_011542144.1:p.Cys215Ter, XP_011542145.1:p.Cys190Ter, NP_001077006.1:p.Cys256Ter, XP_016869405.1:p.Cys256Ter, XP_016869406.1:p.Cys229Ter, XP_016869407.1:p.Cys219Ter, XP_024303083.1:p.Cys178Ter, XP_024303081.1:p.Cys215Ter, XP_024303082.1:p.Cys215Ter, XP_047278311.1:p.Cys235Ter, XP_047278313.1:p.Cys235Ter, XP_047278310.1:p.Cys235Ter, XP_047278315.1:p.Cys235Ter, XP_047278312.1:p.Cys235Ter, XP_047278314.1:p.Cys235Ter, XP_047278318.1:p.Cys119Ter

                                  17.

                                  rs1473420505 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    G>- [Show Flanks]
                                    Chromosome:
                                    8:12186421 (GRCh38)
                                    8:12043930 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:12186420:GGG:GG
                                    Gene:
                                    FAM86B1 (Varview), FAM85A (Varview)
                                    Functional Consequence:
                                    frameshift_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    GG=0.0001/1 (ALFA)
                                    HGVS:
                                    NC_000008.11:g.12186423del, NC_000008.10:g.12043932del, XM_006716257.5:c.592del, XM_006716257.4:c.592del, XM_006716257.3:c.592del, XM_006716257.2:c.592del, XM_006716257.1:c.592del, XM_006716256.5:c.673del, XM_006716256.4:c.673del, XM_006716256.3:c.673del, XM_006716256.2:c.673del, XM_006716256.1:c.673del, XM_006716260.5:c.490del, XM_006716260.4:c.490del, XM_006716260.3:c.490del, XM_006716260.2:c.490del, XM_006716260.1:c.490del, XM_011543842.4:c.448del, XM_011543842.3:c.448del, XM_011543842.2:c.448del, XM_011543842.1:c.448del, XM_011543843.4:c.373del, XM_011543843.3:c.373del, XM_011543843.2:c.373del, XM_011543843.1:c.373del, NM_001083537.4:c.571del, NM_001083537.3:c.571del, NM_001083537.2:c.571del, NM_001083537.1:c.571del, XM_017013916.3:c.571del, XM_017013916.2:c.571del, XM_017013916.1:c.571del, XM_017013917.3:c.490del, XM_017013917.2:c.490del, XM_017013917.1:c.490del, XM_017013918.3:c.460del, XM_017013918.2:c.460del, XM_017013918.1:c.460del, XM_024447313.2:c.448del, XM_024447313.1:c.448del, XM_024447315.2:c.337del, XM_024447315.1:c.337del, XM_024447314.2:c.448del, XM_024447314.1:c.448del, NM_032916.2:c.-878del, XM_047422355.1:c.508del, XM_047422357.1:c.508del, XM_047422359.1:c.508del, XM_047422356.1:c.508del, NR_146925.1:n.688del, XM_047422358.1:c.508del, XM_047422354.1:c.508del, NM_032916.1:c.-878del, XP_006716320.1:p.Gln198fs, XP_006716319.1:p.Gln225fs, XP_006716323.1:p.Gln164fs, XP_011542144.1:p.Gln150fs, XP_011542145.1:p.Gln125fs, NP_001077006.1:p.Gln191fs, XP_016869405.1:p.Gln191fs, XP_016869406.1:p.Gln164fs, XP_016869407.1:p.Gln154fs, XP_024303081.1:p.Gln150fs, XP_024303083.1:p.Gln113fs, XP_024303082.1:p.Gln150fs, XP_047278311.1:p.Gln170fs, XP_047278313.1:p.Gln170fs, XP_047278315.1:p.Gln170fs, XP_047278312.1:p.Gln170fs, XP_047278314.1:p.Gln170fs, XP_047278310.1:p.Gln170fs

                                    18.

                                    rs1471262676 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      8:12194041 (GRCh38)
                                      8:12051550 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:12194040:T:C
                                      Gene:
                                      FAM86B1 (Varview), FAM85A (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      HGVS:
                                      NC_000008.11:g.12194041T>C, NC_000008.10:g.12051550T>C, XM_006716257.5:c.30A>G, XM_006716257.4:c.30A>G, XM_006716257.3:c.30A>G, XM_006716257.2:c.30A>G, XM_006716257.1:c.30A>G, XM_006716256.5:c.30A>G, XM_006716256.4:c.30A>G, XM_006716256.3:c.30A>G, XM_006716256.2:c.30A>G, XM_006716256.1:c.30A>G, XM_006716260.5:c.30A>G, XM_006716260.4:c.30A>G, XM_006716260.3:c.30A>G, XM_006716260.2:c.30A>G, XM_006716260.1:c.30A>G, NM_001083537.4:c.30A>G, NM_001083537.3:c.30A>G, NM_001083537.2:c.30A>G, NM_001083537.1:c.30A>G, XM_017013916.3:c.30A>G, XM_017013916.2:c.30A>G, XM_017013916.1:c.30A>G, XM_017013917.3:c.30A>G, XM_017013917.2:c.30A>G, XM_017013917.1:c.30A>G, XM_017013918.3:c.30A>G, XM_017013918.2:c.30A>G, XM_017013918.1:c.30A>G, NR_003494.3:n.93A>G, NR_003494.2:n.89A>G, NR_003494.1:n.75A>G, NM_032916.3:c.30A>G, XM_047422359.1:c.-1626A>G, XM_047422361.1:c.30A>G

                                      19.

                                      rs1470781273 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C,G [Show Flanks]
                                        Chromosome:
                                        8:12186741 (GRCh38)
                                        8:12044250 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:12186740:A:C,NC_000008.11:12186740:A:G
                                        Gene:
                                        FAM86B1 (Varview), FAM85A (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000008/1 (GnomAD)
                                        HGVS:
                                        NC_000008.11:g.12186741A>C, NC_000008.11:g.12186741A>G, NC_000008.10:g.12044250A>C, NC_000008.10:g.12044250A>G, XM_006716257.5:c.354T>G, XM_006716257.5:c.354T>C, XM_006716257.4:c.354T>G, XM_006716257.4:c.354T>C, XM_006716257.3:c.354T>G, XM_006716257.3:c.354T>C, XM_006716257.2:c.354T>G, XM_006716257.2:c.354T>C, XM_006716257.1:c.354T>G, XM_006716257.1:c.354T>C, XM_006716256.5:c.435T>G, XM_006716256.5:c.435T>C, XM_006716256.4:c.435T>G, XM_006716256.4:c.435T>C, XM_006716256.3:c.435T>G, XM_006716256.3:c.435T>C, XM_006716256.2:c.435T>G, XM_006716256.2:c.435T>C, XM_006716256.1:c.435T>G, XM_006716256.1:c.435T>C, XM_006716260.5:c.252T>G, XM_006716260.5:c.252T>C, XM_006716260.4:c.252T>G, XM_006716260.4:c.252T>C, XM_006716260.3:c.252T>G, XM_006716260.3:c.252T>C, XM_006716260.2:c.252T>G, XM_006716260.2:c.252T>C, XM_006716260.1:c.252T>G, XM_006716260.1:c.252T>C, XM_011543842.4:c.128T>G, XM_011543842.4:c.128T>C, XM_011543842.3:c.128T>G, XM_011543842.3:c.128T>C, XM_011543842.2:c.128T>G, XM_011543842.2:c.128T>C, XM_011543842.1:c.128T>G, XM_011543842.1:c.128T>C, XM_011543843.4:c.135T>G, XM_011543843.4:c.135T>C, XM_011543843.3:c.135T>G, XM_011543843.3:c.135T>C, XM_011543843.2:c.135T>G, XM_011543843.2:c.135T>C, XM_011543843.1:c.135T>G, XM_011543843.1:c.135T>C, NM_001083537.4:c.333T>G, NM_001083537.4:c.333T>C, NM_001083537.3:c.333T>G, NM_001083537.3:c.333T>C, NM_001083537.2:c.333T>G, NM_001083537.2:c.333T>C, NM_001083537.1:c.333T>G, NM_001083537.1:c.333T>C, XM_017013916.3:c.333T>G, XM_017013916.3:c.333T>C, XM_017013916.2:c.333T>G, XM_017013916.2:c.333T>C, XM_017013916.1:c.333T>G, XM_017013916.1:c.333T>C, XM_017013917.3:c.252T>G, XM_017013917.3:c.252T>C, XM_017013917.2:c.252T>G, XM_017013917.2:c.252T>C, XM_017013917.1:c.252T>G, XM_017013917.1:c.252T>C, XM_017013918.3:c.222T>G, XM_017013918.3:c.222T>C, XM_017013918.2:c.222T>G, XM_017013918.2:c.222T>C, XM_017013918.1:c.222T>G, XM_017013918.1:c.222T>C, NR_003494.3:n.396T>G, NR_003494.3:n.396T>C, NR_003494.2:n.392T>G, NR_003494.2:n.392T>C, NR_003494.1:n.378T>G, NR_003494.1:n.378T>C, NM_032916.3:c.333T>G, NM_032916.3:c.333T>C, XM_024447313.2:c.128T>G, XM_024447313.2:c.128T>C, XM_024447313.1:c.128T>G, XM_024447313.1:c.128T>C, XM_024447315.2:c.17T>G, XM_024447315.2:c.17T>C, XM_024447315.1:c.17T>G, XM_024447315.1:c.17T>C, XM_024447314.2:c.128T>G, XM_024447314.2:c.128T>C, XM_024447314.1:c.128T>G, XM_024447314.1:c.128T>C, NM_032916.2:c.-1116T>G, NM_032916.2:c.-1116T>C, XM_047422355.1:c.188T>G, XM_047422355.1:c.188T>C, XM_047422357.1:c.188T>G, XM_047422357.1:c.188T>C, XM_047422359.1:c.188T>G, XM_047422359.1:c.188T>C, XM_047422356.1:c.188T>G, XM_047422356.1:c.188T>C, XM_047422362.1:c.188T>G, XM_047422362.1:c.188T>C, NR_146925.1:n.1006A>C, NR_146925.1:n.1006A>G, XM_047422358.1:c.188T>G, XM_047422358.1:c.188T>C, XM_047422361.1:c.435T>G, XM_047422361.1:c.435T>C, XM_047422354.1:c.188T>G, XM_047422354.1:c.188T>C, NM_032916.1:c.-1116T>G, NM_032916.1:c.-1116T>C, XP_011542144.1:p.Leu43Trp, XP_011542144.1:p.Leu43Ser, XP_024303081.1:p.Leu43Trp, XP_024303081.1:p.Leu43Ser, XP_024303083.1:p.Leu6Trp, XP_024303083.1:p.Leu6Ser, XP_024303082.1:p.Leu43Trp, XP_024303082.1:p.Leu43Ser, XP_047278311.1:p.Leu63Trp, XP_047278311.1:p.Leu63Ser, XP_047278313.1:p.Leu63Trp, XP_047278313.1:p.Leu63Ser, XP_047278315.1:p.Leu63Trp, XP_047278315.1:p.Leu63Ser, XP_047278312.1:p.Leu63Trp, XP_047278312.1:p.Leu63Ser, XP_047278318.1:p.Leu63Trp, XP_047278318.1:p.Leu63Ser, XP_047278314.1:p.Leu63Trp, XP_047278314.1:p.Leu63Ser, XP_047278310.1:p.Leu63Trp, XP_047278310.1:p.Leu63Ser

                                        20.

                                        rs1470361044 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          8:12193977 (GRCh38)
                                          8:12051486 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:12193976:G:A
                                          Gene:
                                          FAM86B1 (Varview), FAM85A (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant,stop_gained,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000169/2 (ALFA)
                                          A=0.000008/1 (GnomAD)
                                          HGVS:
                                          NC_000008.11:g.12193977G>A, NC_000008.10:g.12051486G>A, XM_006716257.5:c.94C>T, XM_006716257.4:c.94C>T, XM_006716257.3:c.94C>T, XM_006716257.2:c.94C>T, XM_006716257.1:c.94C>T, XM_006716256.5:c.94C>T, XM_006716256.4:c.94C>T, XM_006716256.3:c.94C>T, XM_006716256.2:c.94C>T, XM_006716256.1:c.94C>T, XM_006716260.5:c.94C>T, XM_006716260.4:c.94C>T, XM_006716260.3:c.94C>T, XM_006716260.2:c.94C>T, XM_006716260.1:c.94C>T, NM_001083537.4:c.94C>T, NM_001083537.3:c.94C>T, NM_001083537.2:c.94C>T, NM_001083537.1:c.94C>T, XM_017013916.3:c.94C>T, XM_017013916.2:c.94C>T, XM_017013916.1:c.94C>T, XM_017013917.3:c.94C>T, XM_017013917.2:c.94C>T, XM_017013917.1:c.94C>T, NR_003494.3:n.157C>T, NR_003494.2:n.153C>T, NR_003494.1:n.139C>T, NM_032916.3:c.94C>T, XM_047422359.1:c.-1562C>T, XM_047422361.1:c.94C>T, XP_006716320.1:p.Gln32Ter, XP_006716319.1:p.Gln32Ter, XP_006716323.1:p.Gln32Ter, NP_001077006.1:p.Gln32Ter, XP_016869405.1:p.Gln32Ter, XP_016869406.1:p.Gln32Ter, XP_047278317.1:p.Gln32Ter

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