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Items: 1 to 20 of 259

1.

rs1490116622 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    8:84887760 (GRCh38)
    8:85799995 (GRCh37)
    Canonical SPDI:
    NC_000008.11:84887759:A:G
    Gene:
    RALYL (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000007/1 (GnomAD)
    HGVS:
    NC_000008.11:g.84887760A>G, NC_000008.10:g.85799995A>G, NM_173848.7:c.842A>G, NM_173848.6:c.842A>G, NM_173848.5:c.842A>G, NM_001287243.3:c.809A>G, NM_001287243.2:c.809A>G, NM_001287243.1:c.809A>G, NM_001100391.3:c.881A>G, NM_001100391.2:c.881A>G, NM_001100391.1:c.881A>G, NM_001100392.3:c.842A>G, NM_001100392.2:c.842A>G, NM_001100392.1:c.842A>G, NM_001100393.3:c.842A>G, NM_001100393.2:c.842A>G, NM_001100393.1:c.842A>G, XM_017013084.3:c.590A>G, XM_017013084.2:c.590A>G, XM_017013084.1:c.590A>G, NM_001354320.2:c.842A>G, NM_001354320.1:c.842A>G, NM_001354307.2:c.809A>G, NM_001354307.1:c.809A>G, NM_001354316.2:c.842A>G, NM_001354316.1:c.842A>G, NM_001354317.2:c.809A>G, NM_001354317.1:c.809A>G, XM_024447070.2:c.545A>G, XM_024447070.1:c.545A>G, NM_001354308.2:c.842A>G, NM_001354308.1:c.842A>G, XM_024447065.2:c.809A>G, XM_024447065.1:c.809A>G, NM_001354306.2:c.842A>G, NM_001354306.1:c.842A>G, NM_001354309.2:c.809A>G, NM_001354309.1:c.809A>G, NM_001354305.2:c.842A>G, NM_001354305.1:c.842A>G, XM_017013068.2:c.809A>G, XM_017013068.1:c.809A>G, NM_001354318.2:c.809A>G, NM_001354318.1:c.809A>G, NM_001354321.2:c.848A>G, NM_001354321.1:c.848A>G, NM_001354312.2:c.809A>G, NM_001354312.1:c.809A>G, NM_001354314.2:c.839A>G, NM_001354314.1:c.839A>G, NM_001354315.2:c.809A>G, NM_001354315.1:c.809A>G, NM_001354325.2:c.842A>G, NM_001354325.1:c.842A>G, XM_024447066.2:c.809A>G, XM_024447066.1:c.809A>G, NM_001354310.2:c.578A>G, NM_001354310.1:c.578A>G, XM_024447067.2:c.809A>G, XM_024447067.1:c.809A>G, XM_024447069.2:c.569A>G, XM_024447069.1:c.569A>G, XM_017013071.2:c.809A>G, XM_017013071.1:c.809A>G, NM_001287244.2:c.623A>G, NM_001287244.1:c.623A>G, NP_776247.3:p.Asp281Gly, NP_001274172.1:p.Asp270Gly, NP_001093861.1:p.Asp294Gly, NP_001093862.1:p.Asp281Gly, NP_001093863.1:p.Asp281Gly, XP_016868573.1:p.Asp197Gly, NP_001341249.1:p.Asp281Gly, NP_001341236.1:p.Asp270Gly, NP_001341245.1:p.Asp281Gly, NP_001341246.1:p.Asp270Gly, XP_024302838.1:p.Asp182Gly, NP_001341237.1:p.Asp281Gly, XP_024302833.1:p.Asp270Gly, NP_001341235.1:p.Asp281Gly, NP_001341238.1:p.Asp270Gly, NP_001341234.1:p.Asp281Gly, XP_016868557.1:p.Asp270Gly, NP_001341247.1:p.Asp270Gly, NP_001341250.1:p.Asp283Gly, NP_001341241.1:p.Asp270Gly, NP_001341243.1:p.Asp280Gly, NP_001341244.1:p.Asp270Gly, NP_001341254.1:p.Asp281Gly, XP_024302834.1:p.Asp270Gly, NP_001341239.1:p.Asp193Gly, XP_024302835.1:p.Asp270Gly, XP_024302837.1:p.Asp190Gly, XP_016868560.1:p.Asp270Gly, NP_001274173.1:p.Asp208Gly

    2.

    rs1486336023 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,T [Show Flanks]
      Chromosome:
      8:84862398 (GRCh38)
      8:85774633 (GRCh37)
      Canonical SPDI:
      NC_000008.11:84862397:C:A,NC_000008.11:84862397:C:T
      Gene:
      RALYL (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      NC_000008.11:g.84862398C>A, NC_000008.11:g.84862398C>T, NC_000008.10:g.85774633C>A, NC_000008.10:g.85774633C>T, NM_173848.7:c.516C>A, NM_173848.7:c.516C>T, NM_173848.6:c.516C>A, NM_173848.6:c.516C>T, NM_173848.5:c.516C>A, NM_173848.5:c.516C>T, XM_011517462.4:c.483C>A, XM_011517462.4:c.483C>T, XM_011517462.3:c.483C>A, XM_011517462.3:c.483C>T, XM_011517462.2:c.483C>A, XM_011517462.2:c.483C>T, XM_011517462.1:c.483C>A, XM_011517462.1:c.483C>T, NM_001287243.3:c.483C>A, NM_001287243.3:c.483C>T, NM_001287243.2:c.483C>A, NM_001287243.2:c.483C>T, NM_001287243.1:c.483C>A, NM_001287243.1:c.483C>T, NM_001100391.3:c.555C>A, NM_001100391.3:c.555C>T, NM_001100391.2:c.555C>A, NM_001100391.2:c.555C>T, NM_001100391.1:c.555C>A, NM_001100391.1:c.555C>T, NM_001100392.3:c.516C>A, NM_001100392.3:c.516C>T, NM_001100392.2:c.516C>A, NM_001100392.2:c.516C>T, NM_001100392.1:c.516C>A, NM_001100392.1:c.516C>T, NM_001100393.3:c.516C>A, NM_001100393.3:c.516C>T, NM_001100393.2:c.516C>A, NM_001100393.2:c.516C>T, NM_001100393.1:c.516C>A, NM_001100393.1:c.516C>T, XM_017013084.3:c.264C>A, XM_017013084.3:c.264C>T, XM_017013084.2:c.264C>A, XM_017013084.2:c.264C>T, XM_017013084.1:c.264C>A, XM_017013084.1:c.264C>T, NM_001354320.2:c.516C>A, NM_001354320.2:c.516C>T, NM_001354320.1:c.516C>A, NM_001354320.1:c.516C>T, NM_001354307.2:c.483C>A, NM_001354307.2:c.483C>T, NM_001354307.1:c.483C>A, NM_001354307.1:c.483C>T, NM_001354316.2:c.516C>A, NM_001354316.2:c.516C>T, NM_001354316.1:c.516C>A, NM_001354316.1:c.516C>T, NM_001354317.2:c.483C>A, NM_001354317.2:c.483C>T, NM_001354317.1:c.483C>A, NM_001354317.1:c.483C>T, NM_001354311.2:c.516C>A, NM_001354311.2:c.516C>T, NM_001354311.1:c.516C>A, NM_001354311.1:c.516C>T, XM_024447070.2:c.219C>A, XM_024447070.2:c.219C>T, XM_024447070.1:c.219C>A, XM_024447070.1:c.219C>T, NM_001354308.2:c.516C>A, NM_001354308.2:c.516C>T, NM_001354308.1:c.516C>A, NM_001354308.1:c.516C>T, XM_024447065.2:c.483C>A, XM_024447065.2:c.483C>T, XM_024447065.1:c.483C>A, XM_024447065.1:c.483C>T, NM_001354306.2:c.516C>A, NM_001354306.2:c.516C>T, NM_001354306.1:c.516C>A, NM_001354306.1:c.516C>T, NM_001354309.2:c.483C>A, NM_001354309.2:c.483C>T, NM_001354309.1:c.483C>A, NM_001354309.1:c.483C>T, NM_001354305.2:c.516C>A, NM_001354305.2:c.516C>T, NM_001354305.1:c.516C>A, NM_001354305.1:c.516C>T, XM_017013068.2:c.483C>A, XM_017013068.2:c.483C>T, XM_017013068.1:c.483C>A, XM_017013068.1:c.483C>T, NM_001354318.2:c.483C>A, NM_001354318.2:c.483C>T, NM_001354318.1:c.483C>A, NM_001354318.1:c.483C>T, XM_024447068.2:c.522C>A, XM_024447068.2:c.522C>T, XM_024447068.1:c.522C>A, XM_024447068.1:c.522C>T, NM_001354321.2:c.522C>A, NM_001354321.2:c.522C>T, NM_001354321.1:c.522C>A, NM_001354321.1:c.522C>T, NM_001354312.2:c.483C>A, NM_001354312.2:c.483C>T, NM_001354312.1:c.483C>A, NM_001354312.1:c.483C>T, NM_001354314.2:c.516C>A, NM_001354314.2:c.516C>T, NM_001354314.1:c.516C>A, NM_001354314.1:c.516C>T, NM_001354315.2:c.483C>A, NM_001354315.2:c.483C>T, NM_001354315.1:c.483C>A, NM_001354315.1:c.483C>T, NM_001354323.2:c.555C>A, NM_001354323.2:c.555C>T, NM_001354323.1:c.555C>A, NM_001354323.1:c.555C>T, NM_001354319.2:c.516C>A, NM_001354319.2:c.516C>T, NM_001354319.1:c.516C>A, NM_001354319.1:c.516C>T, NM_001354325.2:c.516C>A, NM_001354325.2:c.516C>T, NM_001354325.1:c.516C>A, NM_001354325.1:c.516C>T, NM_001354322.2:c.522C>A, NM_001354322.2:c.522C>T, NM_001354322.1:c.522C>A, NM_001354322.1:c.522C>T, NM_001354313.2:c.516C>A, NM_001354313.2:c.516C>T, NM_001354313.1:c.516C>A, NM_001354313.1:c.516C>T, XM_024447066.2:c.483C>A, XM_024447066.2:c.483C>T, XM_024447066.1:c.483C>A, XM_024447066.1:c.483C>T, NM_001354310.2:c.252C>A, NM_001354310.2:c.252C>T, NM_001354310.1:c.252C>A, NM_001354310.1:c.252C>T, XM_017013082.2:c.483C>A, XM_017013082.2:c.483C>T, XM_017013082.1:c.483C>A, XM_017013082.1:c.483C>T, XM_024447067.2:c.483C>A, XM_024447067.2:c.483C>T, XM_024447067.1:c.483C>A, XM_024447067.1:c.483C>T, XM_024447069.2:c.243C>A, XM_024447069.2:c.243C>T, XM_024447069.1:c.243C>A, XM_024447069.1:c.243C>T, XM_017013071.2:c.483C>A, XM_017013071.2:c.483C>T, XM_017013071.1:c.483C>A, XM_017013071.1:c.483C>T, NM_001287244.2:c.297C>A, NM_001287244.2:c.297C>T, NM_001287244.1:c.297C>A, NM_001287244.1:c.297C>T, XM_047421387.1:c.483C>A, XM_047421387.1:c.483C>T

      3.

      rs1486010768 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        8:84873313 (GRCh38)
        8:85785548 (GRCh37)
        Canonical SPDI:
        NC_000008.11:84873312:A:C
        Gene:
        RALYL (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000008.11:g.84873313A>C, NC_000008.10:g.85785548A>C, NM_173848.7:c.601A>C, NM_173848.6:c.601A>C, NM_173848.5:c.601A>C, XM_011517462.4:c.568A>C, XM_011517462.3:c.568A>C, XM_011517462.2:c.568A>C, XM_011517462.1:c.568A>C, NM_001287243.3:c.568A>C, NM_001287243.2:c.568A>C, NM_001287243.1:c.568A>C, NM_001100391.3:c.640A>C, NM_001100391.2:c.640A>C, NM_001100391.1:c.640A>C, NM_001100392.3:c.601A>C, NM_001100392.2:c.601A>C, NM_001100392.1:c.601A>C, NM_001100393.3:c.601A>C, NM_001100393.2:c.601A>C, NM_001100393.1:c.601A>C, XM_017013084.3:c.349A>C, XM_017013084.2:c.349A>C, XM_017013084.1:c.349A>C, NM_001354320.2:c.601A>C, NM_001354320.1:c.601A>C, NM_001354307.2:c.568A>C, NM_001354307.1:c.568A>C, NM_001354316.2:c.601A>C, NM_001354316.1:c.601A>C, NM_001354317.2:c.568A>C, NM_001354317.1:c.568A>C, NM_001354311.2:c.601A>C, NM_001354311.1:c.601A>C, XM_024447070.2:c.304A>C, XM_024447070.1:c.304A>C, NM_001354308.2:c.601A>C, NM_001354308.1:c.601A>C, XM_024447065.2:c.568A>C, XM_024447065.1:c.568A>C, NM_001354306.2:c.601A>C, NM_001354306.1:c.601A>C, NM_001354309.2:c.568A>C, NM_001354309.1:c.568A>C, NM_001354305.2:c.601A>C, NM_001354305.1:c.601A>C, XM_017013068.2:c.568A>C, XM_017013068.1:c.568A>C, NM_001354318.2:c.568A>C, NM_001354318.1:c.568A>C, XM_024447068.2:c.607A>C, XM_024447068.1:c.607A>C, NM_001354321.2:c.607A>C, NM_001354321.1:c.607A>C, NM_001354312.2:c.568A>C, NM_001354312.1:c.568A>C, NM_001354314.2:c.601A>C, NM_001354314.1:c.601A>C, NM_001354315.2:c.568A>C, NM_001354315.1:c.568A>C, NM_001354323.2:c.640A>C, NM_001354323.1:c.640A>C, NM_001354319.2:c.601A>C, NM_001354319.1:c.601A>C, NM_001354325.2:c.601A>C, NM_001354325.1:c.601A>C, NM_001354322.2:c.607A>C, NM_001354322.1:c.607A>C, NM_001354313.2:c.601A>C, NM_001354313.1:c.601A>C, XM_024447066.2:c.568A>C, XM_024447066.1:c.568A>C, NM_001354310.2:c.337A>C, NM_001354310.1:c.337A>C, XM_017013082.2:c.568A>C, XM_017013082.1:c.568A>C, XM_024447067.2:c.568A>C, XM_024447067.1:c.568A>C, XM_024447069.2:c.328A>C, XM_024447069.1:c.328A>C, XM_017013071.2:c.568A>C, XM_017013071.1:c.568A>C, NM_001287244.2:c.382A>C, NM_001287244.1:c.382A>C, XM_047421387.1:c.568A>C, NP_776247.3:p.Lys201Gln, XP_011515764.1:p.Lys190Gln, NP_001274172.1:p.Lys190Gln, NP_001093861.1:p.Lys214Gln, NP_001093862.1:p.Lys201Gln, NP_001093863.1:p.Lys201Gln, XP_016868573.1:p.Lys117Gln, NP_001341249.1:p.Lys201Gln, NP_001341236.1:p.Lys190Gln, NP_001341245.1:p.Lys201Gln, NP_001341246.1:p.Lys190Gln, NP_001341240.1:p.Lys201Gln, XP_024302838.1:p.Lys102Gln, NP_001341237.1:p.Lys201Gln, XP_024302833.1:p.Lys190Gln, NP_001341235.1:p.Lys201Gln, NP_001341238.1:p.Lys190Gln, NP_001341234.1:p.Lys201Gln, XP_016868557.1:p.Lys190Gln, NP_001341247.1:p.Lys190Gln, XP_024302836.1:p.Lys203Gln, NP_001341250.1:p.Lys203Gln, NP_001341241.1:p.Lys190Gln, NP_001341243.1:p.Lys201Gln, NP_001341244.1:p.Lys190Gln, NP_001341252.1:p.Lys214Gln, NP_001341248.1:p.Lys201Gln, NP_001341254.1:p.Lys201Gln, NP_001341251.1:p.Lys203Gln, NP_001341242.1:p.Lys201Gln, XP_024302834.1:p.Lys190Gln, NP_001341239.1:p.Lys113Gln, XP_016868571.1:p.Lys190Gln, XP_024302835.1:p.Lys190Gln, XP_024302837.1:p.Lys110Gln, XP_016868560.1:p.Lys190Gln, NP_001274173.1:p.Lys128Gln, XP_047277343.1:p.Lys190Gln

        4.

        rs1483414022 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          8:84862374 (GRCh38)
          8:85774609 (GRCh37)
          Canonical SPDI:
          NC_000008.11:84862373:A:G
          Gene:
          RALYL (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by cluster
          MAF:
          G=0.000007/1 (GnomAD)
          HGVS:
          NC_000008.11:g.84862374A>G, NC_000008.10:g.85774609A>G, NM_173848.7:c.492A>G, NM_173848.6:c.492A>G, NM_173848.5:c.492A>G, XM_011517462.4:c.459A>G, XM_011517462.3:c.459A>G, XM_011517462.2:c.459A>G, XM_011517462.1:c.459A>G, NM_001287243.3:c.459A>G, NM_001287243.2:c.459A>G, NM_001287243.1:c.459A>G, NM_001100391.3:c.531A>G, NM_001100391.2:c.531A>G, NM_001100391.1:c.531A>G, NM_001100392.3:c.492A>G, NM_001100392.2:c.492A>G, NM_001100392.1:c.492A>G, NM_001100393.3:c.492A>G, NM_001100393.2:c.492A>G, NM_001100393.1:c.492A>G, XM_017013084.3:c.240A>G, XM_017013084.2:c.240A>G, XM_017013084.1:c.240A>G, NM_001354320.2:c.492A>G, NM_001354320.1:c.492A>G, NM_001354307.2:c.459A>G, NM_001354307.1:c.459A>G, NM_001354316.2:c.492A>G, NM_001354316.1:c.492A>G, NM_001354317.2:c.459A>G, NM_001354317.1:c.459A>G, NM_001354311.2:c.492A>G, NM_001354311.1:c.492A>G, XM_024447070.2:c.195A>G, XM_024447070.1:c.195A>G, NM_001354308.2:c.492A>G, NM_001354308.1:c.492A>G, XM_024447065.2:c.459A>G, XM_024447065.1:c.459A>G, NM_001354306.2:c.492A>G, NM_001354306.1:c.492A>G, NM_001354309.2:c.459A>G, NM_001354309.1:c.459A>G, NM_001354305.2:c.492A>G, NM_001354305.1:c.492A>G, XM_017013068.2:c.459A>G, XM_017013068.1:c.459A>G, NM_001354318.2:c.459A>G, NM_001354318.1:c.459A>G, XM_024447068.2:c.498A>G, XM_024447068.1:c.498A>G, NM_001354321.2:c.498A>G, NM_001354321.1:c.498A>G, NM_001354312.2:c.459A>G, NM_001354312.1:c.459A>G, NM_001354314.2:c.492A>G, NM_001354314.1:c.492A>G, NM_001354315.2:c.459A>G, NM_001354315.1:c.459A>G, NM_001354323.2:c.531A>G, NM_001354323.1:c.531A>G, NM_001354319.2:c.492A>G, NM_001354319.1:c.492A>G, NM_001354325.2:c.492A>G, NM_001354325.1:c.492A>G, NM_001354322.2:c.498A>G, NM_001354322.1:c.498A>G, NM_001354313.2:c.492A>G, NM_001354313.1:c.492A>G, XM_024447066.2:c.459A>G, XM_024447066.1:c.459A>G, NM_001354310.2:c.228A>G, NM_001354310.1:c.228A>G, XM_017013082.2:c.459A>G, XM_017013082.1:c.459A>G, XM_024447067.2:c.459A>G, XM_024447067.1:c.459A>G, XM_024447069.2:c.219A>G, XM_024447069.1:c.219A>G, XM_017013071.2:c.459A>G, XM_017013071.1:c.459A>G, NM_001287244.2:c.273A>G, NM_001287244.1:c.273A>G, XM_047421387.1:c.459A>G

          5.

          rs1476733136 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            8:84887708 (GRCh38)
            8:85799943 (GRCh37)
            Canonical SPDI:
            NC_000008.11:84887707:G:A
            Gene:
            RALYL (Varview)
            Functional Consequence:
            missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000071/1 (ALFA)
            A=0.000007/1 (GnomAD)
            A=0.000011/3 (TOPMED)
            HGVS:
            NC_000008.11:g.84887708G>A, NC_000008.10:g.85799943G>A, NM_173848.7:c.790G>A, NM_173848.6:c.790G>A, NM_173848.5:c.790G>A, NM_001287243.3:c.757G>A, NM_001287243.2:c.757G>A, NM_001287243.1:c.757G>A, NM_001100391.3:c.829G>A, NM_001100391.2:c.829G>A, NM_001100391.1:c.829G>A, NM_001100392.3:c.790G>A, NM_001100392.2:c.790G>A, NM_001100392.1:c.790G>A, NM_001100393.3:c.790G>A, NM_001100393.2:c.790G>A, NM_001100393.1:c.790G>A, XM_017013084.3:c.538G>A, XM_017013084.2:c.538G>A, XM_017013084.1:c.538G>A, NM_001354320.2:c.790G>A, NM_001354320.1:c.790G>A, NM_001354307.2:c.757G>A, NM_001354307.1:c.757G>A, NM_001354316.2:c.790G>A, NM_001354316.1:c.790G>A, NM_001354317.2:c.757G>A, NM_001354317.1:c.757G>A, XM_024447070.2:c.493G>A, XM_024447070.1:c.493G>A, NM_001354308.2:c.790G>A, NM_001354308.1:c.790G>A, XM_024447065.2:c.757G>A, XM_024447065.1:c.757G>A, NM_001354306.2:c.790G>A, NM_001354306.1:c.790G>A, NM_001354309.2:c.757G>A, NM_001354309.1:c.757G>A, NM_001354305.2:c.790G>A, NM_001354305.1:c.790G>A, XM_017013068.2:c.757G>A, XM_017013068.1:c.757G>A, NM_001354318.2:c.757G>A, NM_001354318.1:c.757G>A, NM_001354321.2:c.796G>A, NM_001354321.1:c.796G>A, NM_001354312.2:c.757G>A, NM_001354312.1:c.757G>A, NM_001354314.2:c.787G>A, NM_001354314.1:c.787G>A, NM_001354315.2:c.757G>A, NM_001354315.1:c.757G>A, NM_001354325.2:c.790G>A, NM_001354325.1:c.790G>A, XM_024447066.2:c.757G>A, XM_024447066.1:c.757G>A, NM_001354310.2:c.526G>A, NM_001354310.1:c.526G>A, XM_024447067.2:c.757G>A, XM_024447067.1:c.757G>A, XM_024447069.2:c.517G>A, XM_024447069.1:c.517G>A, XM_017013071.2:c.757G>A, XM_017013071.1:c.757G>A, NM_001287244.2:c.571G>A, NM_001287244.1:c.571G>A, NP_776247.3:p.Asp264Asn, NP_001274172.1:p.Asp253Asn, NP_001093861.1:p.Asp277Asn, NP_001093862.1:p.Asp264Asn, NP_001093863.1:p.Asp264Asn, XP_016868573.1:p.Asp180Asn, NP_001341249.1:p.Asp264Asn, NP_001341236.1:p.Asp253Asn, NP_001341245.1:p.Asp264Asn, NP_001341246.1:p.Asp253Asn, XP_024302838.1:p.Asp165Asn, NP_001341237.1:p.Asp264Asn, XP_024302833.1:p.Asp253Asn, NP_001341235.1:p.Asp264Asn, NP_001341238.1:p.Asp253Asn, NP_001341234.1:p.Asp264Asn, XP_016868557.1:p.Asp253Asn, NP_001341247.1:p.Asp253Asn, NP_001341250.1:p.Asp266Asn, NP_001341241.1:p.Asp253Asn, NP_001341243.1:p.Asp263Asn, NP_001341244.1:p.Asp253Asn, NP_001341254.1:p.Asp264Asn, XP_024302834.1:p.Asp253Asn, NP_001341239.1:p.Asp176Asn, XP_024302835.1:p.Asp253Asn, XP_024302837.1:p.Asp173Asn, XP_016868560.1:p.Asp253Asn, NP_001274173.1:p.Asp191Asn

            6.

            rs1474624574 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              8:84529549 (GRCh38)
              8:85441784 (GRCh37)
              Canonical SPDI:
              NC_000008.11:84529548:T:A
              Gene:
              RALYL (Varview)
              Functional Consequence:
              missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
              HGVS:
              NC_000008.11:g.84529549T>A, NC_000008.10:g.85441784T>A, NM_173848.7:c.228T>A, NM_173848.6:c.228T>A, NM_173848.5:c.228T>A, XM_011517462.4:c.228T>A, XM_011517462.3:c.228T>A, XM_011517462.2:c.228T>A, XM_011517462.1:c.228T>A, NM_001287243.3:c.228T>A, NM_001287243.2:c.228T>A, NM_001287243.1:c.228T>A, NM_001100391.3:c.267T>A, NM_001100391.2:c.267T>A, NM_001100391.1:c.267T>A, NM_001100392.3:c.228T>A, NM_001100392.2:c.228T>A, NM_001100392.1:c.228T>A, NM_001100393.3:c.228T>A, NM_001100393.2:c.228T>A, NM_001100393.1:c.228T>A, NM_001354320.2:c.228T>A, NM_001354320.1:c.228T>A, NM_001354307.2:c.228T>A, NM_001354307.1:c.228T>A, NM_001354316.2:c.228T>A, NM_001354316.1:c.228T>A, NM_001354317.2:c.228T>A, NM_001354317.1:c.228T>A, NM_001354311.2:c.228T>A, NM_001354311.1:c.228T>A, NM_001354308.2:c.228T>A, NM_001354308.1:c.228T>A, XM_024447065.2:c.228T>A, XM_024447065.1:c.228T>A, NM_001354306.2:c.228T>A, NM_001354306.1:c.228T>A, NM_001354309.2:c.228T>A, NM_001354309.1:c.228T>A, NM_001354305.2:c.228T>A, NM_001354305.1:c.228T>A, XM_017013068.2:c.228T>A, XM_017013068.1:c.228T>A, NM_001354318.2:c.228T>A, NM_001354318.1:c.228T>A, XM_024447068.2:c.267T>A, XM_024447068.1:c.267T>A, NM_001354321.2:c.267T>A, NM_001354321.1:c.267T>A, NM_001354312.2:c.228T>A, NM_001354312.1:c.228T>A, NM_001354314.2:c.228T>A, NM_001354314.1:c.228T>A, NM_001354315.2:c.228T>A, NM_001354315.1:c.228T>A, NM_001354323.2:c.267T>A, NM_001354323.1:c.267T>A, NM_001354319.2:c.228T>A, NM_001354319.1:c.228T>A, NM_001354325.2:c.228T>A, NM_001354325.1:c.228T>A, NM_001354322.2:c.267T>A, NM_001354322.1:c.267T>A, NM_001354313.2:c.228T>A, NM_001354313.1:c.228T>A, XM_024447066.2:c.228T>A, XM_024447066.1:c.228T>A, XM_017013082.2:c.228T>A, XM_017013082.1:c.228T>A, XM_024447067.2:c.228T>A, XM_024447067.1:c.228T>A, XM_017013071.2:c.228T>A, XM_017013071.1:c.228T>A, XM_047421387.1:c.228T>A, NP_776247.3:p.Asn76Lys, XP_011515764.1:p.Asn76Lys, NP_001274172.1:p.Asn76Lys, NP_001093861.1:p.Asn89Lys, NP_001093862.1:p.Asn76Lys, NP_001093863.1:p.Asn76Lys, NP_001341249.1:p.Asn76Lys, NP_001341236.1:p.Asn76Lys, NP_001341245.1:p.Asn76Lys, NP_001341246.1:p.Asn76Lys, NP_001341240.1:p.Asn76Lys, NP_001341237.1:p.Asn76Lys, XP_024302833.1:p.Asn76Lys, NP_001341235.1:p.Asn76Lys, NP_001341238.1:p.Asn76Lys, NP_001341234.1:p.Asn76Lys, XP_016868557.1:p.Asn76Lys, NP_001341247.1:p.Asn76Lys, XP_024302836.1:p.Asn89Lys, NP_001341250.1:p.Asn89Lys, NP_001341241.1:p.Asn76Lys, NP_001341243.1:p.Asn76Lys, NP_001341244.1:p.Asn76Lys, NP_001341252.1:p.Asn89Lys, NP_001341248.1:p.Asn76Lys, NP_001341254.1:p.Asn76Lys, NP_001341251.1:p.Asn89Lys, NP_001341242.1:p.Asn76Lys, XP_024302834.1:p.Asn76Lys, XP_016868571.1:p.Asn76Lys, XP_024302835.1:p.Asn76Lys, XP_016868560.1:p.Asn76Lys, XP_047277343.1:p.Asn76Lys

              7.

              rs1468148843 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                8:84774583 (GRCh38)
                8:85686818 (GRCh37)
                Canonical SPDI:
                NC_000008.11:84774582:C:G
                Gene:
                RALYL (Varview)
                Functional Consequence:
                coding_sequence_variant,5_prime_UTR_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000008.11:g.84774583C>G, NC_000008.10:g.85686818C>G, NM_173848.7:c.261C>G, NM_173848.6:c.261C>G, NM_173848.5:c.261C>G, XM_011517462.4:c.261C>G, XM_011517462.3:c.261C>G, XM_011517462.2:c.261C>G, XM_011517462.1:c.261C>G, NM_001287243.3:c.261C>G, NM_001287243.2:c.261C>G, NM_001287243.1:c.261C>G, NM_001100391.3:c.300C>G, NM_001100391.2:c.300C>G, NM_001100391.1:c.300C>G, NM_001100392.3:c.261C>G, NM_001100392.2:c.261C>G, NM_001100392.1:c.261C>G, NM_001100393.3:c.261C>G, NM_001100393.2:c.261C>G, NM_001100393.1:c.261C>G, XM_017013084.3:c.42C>G, XM_017013084.2:c.42C>G, XM_017013084.1:c.42C>G, NM_001354320.2:c.261C>G, NM_001354320.1:c.261C>G, NM_001354307.2:c.261C>G, NM_001354307.1:c.261C>G, NM_001354316.2:c.261C>G, NM_001354316.1:c.261C>G, NM_001354317.2:c.261C>G, NM_001354317.1:c.261C>G, NM_001354311.2:c.261C>G, NM_001354311.1:c.261C>G, XM_024447070.2:c.-4C>G, XM_024447070.1:c.-4C>G, NM_001354308.2:c.261C>G, NM_001354308.1:c.261C>G, XM_024447065.2:c.261C>G, XM_024447065.1:c.261C>G, NM_001354306.2:c.261C>G, NM_001354306.1:c.261C>G, NM_001354309.2:c.261C>G, NM_001354309.1:c.261C>G, NM_001354305.2:c.261C>G, NM_001354305.1:c.261C>G, XM_017013068.2:c.261C>G, XM_017013068.1:c.261C>G, NM_001354318.2:c.261C>G, NM_001354318.1:c.261C>G, XM_024447068.2:c.300C>G, XM_024447068.1:c.300C>G, NM_001354321.2:c.300C>G, NM_001354321.1:c.300C>G, NM_001354312.2:c.261C>G, NM_001354312.1:c.261C>G, NM_001354314.2:c.261C>G, NM_001354314.1:c.261C>G, NM_001354315.2:c.261C>G, NM_001354315.1:c.261C>G, NM_001354323.2:c.300C>G, NM_001354323.1:c.300C>G, NM_001354319.2:c.261C>G, NM_001354319.1:c.261C>G, NM_001354325.2:c.261C>G, NM_001354325.1:c.261C>G, NM_001354322.2:c.300C>G, NM_001354322.1:c.300C>G, NM_001354313.2:c.261C>G, NM_001354313.1:c.261C>G, XM_024447066.2:c.261C>G, XM_024447066.1:c.261C>G, NM_001354310.2:c.-4C>G, NM_001354310.1:c.-4C>G, XM_017013082.2:c.261C>G, XM_017013082.1:c.261C>G, XM_024447067.2:c.261C>G, XM_024447067.1:c.261C>G, XM_024447069.2:c.21C>G, XM_024447069.1:c.21C>G, XM_017013071.2:c.261C>G, XM_017013071.1:c.261C>G, NM_001287244.2:c.42C>G, NM_001287244.1:c.42C>G, XM_047421387.1:c.261C>G, NP_776247.3:p.Ile87Met, XP_011515764.1:p.Ile87Met, NP_001274172.1:p.Ile87Met, NP_001093861.1:p.Ile100Met, NP_001093862.1:p.Ile87Met, NP_001093863.1:p.Ile87Met, XP_016868573.1:p.Ile14Met, NP_001341249.1:p.Ile87Met, NP_001341236.1:p.Ile87Met, NP_001341245.1:p.Ile87Met, NP_001341246.1:p.Ile87Met, NP_001341240.1:p.Ile87Met, NP_001341237.1:p.Ile87Met, XP_024302833.1:p.Ile87Met, NP_001341235.1:p.Ile87Met, NP_001341238.1:p.Ile87Met, NP_001341234.1:p.Ile87Met, XP_016868557.1:p.Ile87Met, NP_001341247.1:p.Ile87Met, XP_024302836.1:p.Ile100Met, NP_001341250.1:p.Ile100Met, NP_001341241.1:p.Ile87Met, NP_001341243.1:p.Ile87Met, NP_001341244.1:p.Ile87Met, NP_001341252.1:p.Ile100Met, NP_001341248.1:p.Ile87Met, NP_001341254.1:p.Ile87Met, NP_001341251.1:p.Ile100Met, NP_001341242.1:p.Ile87Met, XP_024302834.1:p.Ile87Met, XP_016868571.1:p.Ile87Met, XP_024302835.1:p.Ile87Met, XP_024302837.1:p.Ile7Met, XP_016868560.1:p.Ile87Met, NP_001274173.1:p.Ile14Met, XP_047277343.1:p.Ile87Met

                8.

                rs1468039293 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  8:84529372 (GRCh38)
                  8:85441607 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:84529371:G:A
                  Gene:
                  RALYL (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  HGVS:
                  NC_000008.11:g.84529372G>A, NC_000008.10:g.85441607G>A, NM_173848.7:c.51G>A, NM_173848.6:c.51G>A, NM_173848.5:c.51G>A, XM_011517462.4:c.51G>A, XM_011517462.3:c.51G>A, XM_011517462.2:c.51G>A, XM_011517462.1:c.51G>A, NM_001287243.3:c.51G>A, NM_001287243.2:c.51G>A, NM_001287243.1:c.51G>A, NM_001100391.3:c.90G>A, NM_001100391.2:c.90G>A, NM_001100391.1:c.90G>A, NM_001100392.3:c.51G>A, NM_001100392.2:c.51G>A, NM_001100392.1:c.51G>A, NM_001100393.3:c.51G>A, NM_001100393.2:c.51G>A, NM_001100393.1:c.51G>A, NM_001354320.2:c.51G>A, NM_001354320.1:c.51G>A, NM_001354307.2:c.51G>A, NM_001354307.1:c.51G>A, NM_001354316.2:c.51G>A, NM_001354316.1:c.51G>A, NM_001354317.2:c.51G>A, NM_001354317.1:c.51G>A, NM_001354311.2:c.51G>A, NM_001354311.1:c.51G>A, NM_001354308.2:c.51G>A, NM_001354308.1:c.51G>A, XM_024447065.2:c.51G>A, XM_024447065.1:c.51G>A, NM_001354306.2:c.51G>A, NM_001354306.1:c.51G>A, NM_001354309.2:c.51G>A, NM_001354309.1:c.51G>A, NM_001354305.2:c.51G>A, NM_001354305.1:c.51G>A, XM_017013068.2:c.51G>A, XM_017013068.1:c.51G>A, NM_001354318.2:c.51G>A, NM_001354318.1:c.51G>A, XM_024447068.2:c.90G>A, XM_024447068.1:c.90G>A, NM_001354321.2:c.90G>A, NM_001354321.1:c.90G>A, NM_001354312.2:c.51G>A, NM_001354312.1:c.51G>A, NM_001354314.2:c.51G>A, NM_001354314.1:c.51G>A, NM_001354315.2:c.51G>A, NM_001354315.1:c.51G>A, NM_001354323.2:c.90G>A, NM_001354323.1:c.90G>A, NM_001354319.2:c.51G>A, NM_001354319.1:c.51G>A, NM_001354325.2:c.51G>A, NM_001354325.1:c.51G>A, NM_001354322.2:c.90G>A, NM_001354322.1:c.90G>A, NM_001354313.2:c.51G>A, NM_001354313.1:c.51G>A, XM_024447066.2:c.51G>A, XM_024447066.1:c.51G>A, XM_017013082.2:c.51G>A, XM_017013082.1:c.51G>A, XM_024447067.2:c.51G>A, XM_024447067.1:c.51G>A, XM_017013071.2:c.51G>A, XM_017013071.1:c.51G>A, XM_047421387.1:c.51G>A

                  9.

                  rs1462048725 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    8:84862415 (GRCh38)
                    8:85774650 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:84862414:G:T
                    Gene:
                    RALYL (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    HGVS:
                    NC_000008.11:g.84862415G>T, NC_000008.10:g.85774650G>T, NM_173848.7:c.533G>T, NM_173848.6:c.533G>T, NM_173848.5:c.533G>T, XM_011517462.4:c.500G>T, XM_011517462.3:c.500G>T, XM_011517462.2:c.500G>T, XM_011517462.1:c.500G>T, NM_001287243.3:c.500G>T, NM_001287243.2:c.500G>T, NM_001287243.1:c.500G>T, NM_001100391.3:c.572G>T, NM_001100391.2:c.572G>T, NM_001100391.1:c.572G>T, NM_001100392.3:c.533G>T, NM_001100392.2:c.533G>T, NM_001100392.1:c.533G>T, NM_001100393.3:c.533G>T, NM_001100393.2:c.533G>T, NM_001100393.1:c.533G>T, XM_017013084.3:c.281G>T, XM_017013084.2:c.281G>T, XM_017013084.1:c.281G>T, NM_001354320.2:c.533G>T, NM_001354320.1:c.533G>T, NM_001354307.2:c.500G>T, NM_001354307.1:c.500G>T, NM_001354316.2:c.533G>T, NM_001354316.1:c.533G>T, NM_001354317.2:c.500G>T, NM_001354317.1:c.500G>T, NM_001354311.2:c.533G>T, NM_001354311.1:c.533G>T, XM_024447070.2:c.236G>T, XM_024447070.1:c.236G>T, NM_001354308.2:c.533G>T, NM_001354308.1:c.533G>T, XM_024447065.2:c.500G>T, XM_024447065.1:c.500G>T, NM_001354306.2:c.533G>T, NM_001354306.1:c.533G>T, NM_001354309.2:c.500G>T, NM_001354309.1:c.500G>T, NM_001354305.2:c.533G>T, NM_001354305.1:c.533G>T, XM_017013068.2:c.500G>T, XM_017013068.1:c.500G>T, NM_001354318.2:c.500G>T, NM_001354318.1:c.500G>T, XM_024447068.2:c.539G>T, XM_024447068.1:c.539G>T, NM_001354321.2:c.539G>T, NM_001354321.1:c.539G>T, NM_001354312.2:c.500G>T, NM_001354312.1:c.500G>T, NM_001354314.2:c.533G>T, NM_001354314.1:c.533G>T, NM_001354315.2:c.500G>T, NM_001354315.1:c.500G>T, NM_001354323.2:c.572G>T, NM_001354323.1:c.572G>T, NM_001354319.2:c.533G>T, NM_001354319.1:c.533G>T, NM_001354325.2:c.533G>T, NM_001354325.1:c.533G>T, NM_001354322.2:c.539G>T, NM_001354322.1:c.539G>T, NM_001354313.2:c.533G>T, NM_001354313.1:c.533G>T, XM_024447066.2:c.500G>T, XM_024447066.1:c.500G>T, NM_001354310.2:c.269G>T, NM_001354310.1:c.269G>T, XM_017013082.2:c.500G>T, XM_017013082.1:c.500G>T, XM_024447067.2:c.500G>T, XM_024447067.1:c.500G>T, XM_024447069.2:c.260G>T, XM_024447069.1:c.260G>T, XM_017013071.2:c.500G>T, XM_017013071.1:c.500G>T, NM_001287244.2:c.314G>T, NM_001287244.1:c.314G>T, XM_047421387.1:c.500G>T, NP_776247.3:p.Gly178Val, XP_011515764.1:p.Gly167Val, NP_001274172.1:p.Gly167Val, NP_001093861.1:p.Gly191Val, NP_001093862.1:p.Gly178Val, NP_001093863.1:p.Gly178Val, XP_016868573.1:p.Gly94Val, NP_001341249.1:p.Gly178Val, NP_001341236.1:p.Gly167Val, NP_001341245.1:p.Gly178Val, NP_001341246.1:p.Gly167Val, NP_001341240.1:p.Gly178Val, XP_024302838.1:p.Gly79Val, NP_001341237.1:p.Gly178Val, XP_024302833.1:p.Gly167Val, NP_001341235.1:p.Gly178Val, NP_001341238.1:p.Gly167Val, NP_001341234.1:p.Gly178Val, XP_016868557.1:p.Gly167Val, NP_001341247.1:p.Gly167Val, XP_024302836.1:p.Gly180Val, NP_001341250.1:p.Gly180Val, NP_001341241.1:p.Gly167Val, NP_001341243.1:p.Gly178Val, NP_001341244.1:p.Gly167Val, NP_001341252.1:p.Gly191Val, NP_001341248.1:p.Gly178Val, NP_001341254.1:p.Gly178Val, NP_001341251.1:p.Gly180Val, NP_001341242.1:p.Gly178Val, XP_024302834.1:p.Gly167Val, NP_001341239.1:p.Gly90Val, XP_016868571.1:p.Gly167Val, XP_024302835.1:p.Gly167Val, XP_024302837.1:p.Gly87Val, XP_016868560.1:p.Gly167Val, NP_001274173.1:p.Gly105Val, XP_047277343.1:p.Gly167Val

                    10.

                    rs1458259856 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      8:84529337 (GRCh38)
                      8:85441572 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:84529336:C:A,NC_000008.11:84529336:C:T
                      Gene:
                      RALYL (Varview)
                      Functional Consequence:
                      intron_variant,stop_gained,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000005/1 (GnomAD_exomes)
                      HGVS:
                      NC_000008.11:g.84529337C>A, NC_000008.11:g.84529337C>T, NC_000008.10:g.85441572C>A, NC_000008.10:g.85441572C>T, NM_173848.7:c.16C>A, NM_173848.7:c.16C>T, NM_173848.6:c.16C>A, NM_173848.6:c.16C>T, NM_173848.5:c.16C>A, NM_173848.5:c.16C>T, XM_011517462.4:c.16C>A, XM_011517462.4:c.16C>T, XM_011517462.3:c.16C>A, XM_011517462.3:c.16C>T, XM_011517462.2:c.16C>A, XM_011517462.2:c.16C>T, XM_011517462.1:c.16C>A, XM_011517462.1:c.16C>T, NM_001287243.3:c.16C>A, NM_001287243.3:c.16C>T, NM_001287243.2:c.16C>A, NM_001287243.2:c.16C>T, NM_001287243.1:c.16C>A, NM_001287243.1:c.16C>T, NM_001100391.3:c.55C>A, NM_001100391.3:c.55C>T, NM_001100391.2:c.55C>A, NM_001100391.2:c.55C>T, NM_001100391.1:c.55C>A, NM_001100391.1:c.55C>T, NM_001100392.3:c.16C>A, NM_001100392.3:c.16C>T, NM_001100392.2:c.16C>A, NM_001100392.2:c.16C>T, NM_001100392.1:c.16C>A, NM_001100392.1:c.16C>T, NM_001100393.3:c.16C>A, NM_001100393.3:c.16C>T, NM_001100393.2:c.16C>A, NM_001100393.2:c.16C>T, NM_001100393.1:c.16C>A, NM_001100393.1:c.16C>T, NM_001354320.2:c.16C>A, NM_001354320.2:c.16C>T, NM_001354320.1:c.16C>A, NM_001354320.1:c.16C>T, NM_001354307.2:c.16C>A, NM_001354307.2:c.16C>T, NM_001354307.1:c.16C>A, NM_001354307.1:c.16C>T, NM_001354316.2:c.16C>A, NM_001354316.2:c.16C>T, NM_001354316.1:c.16C>A, NM_001354316.1:c.16C>T, NM_001354317.2:c.16C>A, NM_001354317.2:c.16C>T, NM_001354317.1:c.16C>A, NM_001354317.1:c.16C>T, NM_001354311.2:c.16C>A, NM_001354311.2:c.16C>T, NM_001354311.1:c.16C>A, NM_001354311.1:c.16C>T, NM_001354308.2:c.16C>A, NM_001354308.2:c.16C>T, NM_001354308.1:c.16C>A, NM_001354308.1:c.16C>T, XM_024447065.2:c.16C>A, XM_024447065.2:c.16C>T, XM_024447065.1:c.16C>A, XM_024447065.1:c.16C>T, NM_001354306.2:c.16C>A, NM_001354306.2:c.16C>T, NM_001354306.1:c.16C>A, NM_001354306.1:c.16C>T, NM_001354309.2:c.16C>A, NM_001354309.2:c.16C>T, NM_001354309.1:c.16C>A, NM_001354309.1:c.16C>T, NM_001354305.2:c.16C>A, NM_001354305.2:c.16C>T, NM_001354305.1:c.16C>A, NM_001354305.1:c.16C>T, XM_017013068.2:c.16C>A, XM_017013068.2:c.16C>T, XM_017013068.1:c.16C>A, XM_017013068.1:c.16C>T, NM_001354318.2:c.16C>A, NM_001354318.2:c.16C>T, NM_001354318.1:c.16C>A, NM_001354318.1:c.16C>T, XM_024447068.2:c.55C>A, XM_024447068.2:c.55C>T, XM_024447068.1:c.55C>A, XM_024447068.1:c.55C>T, NM_001354321.2:c.55C>A, NM_001354321.2:c.55C>T, NM_001354321.1:c.55C>A, NM_001354321.1:c.55C>T, NM_001354312.2:c.16C>A, NM_001354312.2:c.16C>T, NM_001354312.1:c.16C>A, NM_001354312.1:c.16C>T, NM_001354314.2:c.16C>A, NM_001354314.2:c.16C>T, NM_001354314.1:c.16C>A, NM_001354314.1:c.16C>T, NM_001354315.2:c.16C>A, NM_001354315.2:c.16C>T, NM_001354315.1:c.16C>A, NM_001354315.1:c.16C>T, NM_001354323.2:c.55C>A, NM_001354323.2:c.55C>T, NM_001354323.1:c.55C>A, NM_001354323.1:c.55C>T, NM_001354319.2:c.16C>A, NM_001354319.2:c.16C>T, NM_001354319.1:c.16C>A, NM_001354319.1:c.16C>T, NM_001354325.2:c.16C>A, NM_001354325.2:c.16C>T, NM_001354325.1:c.16C>A, NM_001354325.1:c.16C>T, NM_001354322.2:c.55C>A, NM_001354322.2:c.55C>T, NM_001354322.1:c.55C>A, NM_001354322.1:c.55C>T, NM_001354313.2:c.16C>A, NM_001354313.2:c.16C>T, NM_001354313.1:c.16C>A, NM_001354313.1:c.16C>T, XM_024447066.2:c.16C>A, XM_024447066.2:c.16C>T, XM_024447066.1:c.16C>A, XM_024447066.1:c.16C>T, XM_017013082.2:c.16C>A, XM_017013082.2:c.16C>T, XM_017013082.1:c.16C>A, XM_017013082.1:c.16C>T, XM_024447067.2:c.16C>A, XM_024447067.2:c.16C>T, XM_024447067.1:c.16C>A, XM_024447067.1:c.16C>T, XM_017013071.2:c.16C>A, XM_017013071.2:c.16C>T, XM_017013071.1:c.16C>A, XM_017013071.1:c.16C>T, XM_047421387.1:c.16C>A, XM_047421387.1:c.16C>T, NP_776247.3:p.Gln6Lys, NP_776247.3:p.Gln6Ter, XP_011515764.1:p.Gln6Lys, XP_011515764.1:p.Gln6Ter, NP_001274172.1:p.Gln6Lys, NP_001274172.1:p.Gln6Ter, NP_001093861.1:p.Gln19Lys, NP_001093861.1:p.Gln19Ter, NP_001093862.1:p.Gln6Lys, NP_001093862.1:p.Gln6Ter, NP_001093863.1:p.Gln6Lys, NP_001093863.1:p.Gln6Ter, NP_001341249.1:p.Gln6Lys, NP_001341249.1:p.Gln6Ter, NP_001341236.1:p.Gln6Lys, NP_001341236.1:p.Gln6Ter, NP_001341245.1:p.Gln6Lys, NP_001341245.1:p.Gln6Ter, NP_001341246.1:p.Gln6Lys, NP_001341246.1:p.Gln6Ter, NP_001341240.1:p.Gln6Lys, NP_001341240.1:p.Gln6Ter, NP_001341237.1:p.Gln6Lys, NP_001341237.1:p.Gln6Ter, XP_024302833.1:p.Gln6Lys, XP_024302833.1:p.Gln6Ter, NP_001341235.1:p.Gln6Lys, NP_001341235.1:p.Gln6Ter, NP_001341238.1:p.Gln6Lys, NP_001341238.1:p.Gln6Ter, NP_001341234.1:p.Gln6Lys, NP_001341234.1:p.Gln6Ter, XP_016868557.1:p.Gln6Lys, XP_016868557.1:p.Gln6Ter, NP_001341247.1:p.Gln6Lys, NP_001341247.1:p.Gln6Ter, XP_024302836.1:p.Gln19Lys, XP_024302836.1:p.Gln19Ter, NP_001341250.1:p.Gln19Lys, NP_001341250.1:p.Gln19Ter, NP_001341241.1:p.Gln6Lys, NP_001341241.1:p.Gln6Ter, NP_001341243.1:p.Gln6Lys, NP_001341243.1:p.Gln6Ter, NP_001341244.1:p.Gln6Lys, NP_001341244.1:p.Gln6Ter, NP_001341252.1:p.Gln19Lys, NP_001341252.1:p.Gln19Ter, NP_001341248.1:p.Gln6Lys, NP_001341248.1:p.Gln6Ter, NP_001341254.1:p.Gln6Lys, NP_001341254.1:p.Gln6Ter, NP_001341251.1:p.Gln19Lys, NP_001341251.1:p.Gln19Ter, NP_001341242.1:p.Gln6Lys, NP_001341242.1:p.Gln6Ter, XP_024302834.1:p.Gln6Lys, XP_024302834.1:p.Gln6Ter, XP_016868571.1:p.Gln6Lys, XP_016868571.1:p.Gln6Ter, XP_024302835.1:p.Gln6Lys, XP_024302835.1:p.Gln6Ter, XP_016868560.1:p.Gln6Lys, XP_016868560.1:p.Gln6Ter, XP_047277343.1:p.Gln6Lys, XP_047277343.1:p.Gln6Ter

                      11.

                      rs1454664715 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        8:84850004 (GRCh38)
                        8:85762239 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:84850003:C:T
                        Gene:
                        RALYL (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000071/1 (ALFA)
                        T=0.000007/1 (GnomAD)
                        T=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000008.11:g.84850004C>T, NC_000008.10:g.85762239C>T, NM_173848.7:c.390C>T, NM_173848.6:c.390C>T, NM_173848.5:c.390C>T, XM_011517462.4:c.357C>T, XM_011517462.3:c.357C>T, XM_011517462.2:c.357C>T, XM_011517462.1:c.357C>T, NM_001287243.3:c.357C>T, NM_001287243.2:c.357C>T, NM_001287243.1:c.357C>T, NM_001100391.3:c.429C>T, NM_001100391.2:c.429C>T, NM_001100391.1:c.429C>T, NM_001100392.3:c.390C>T, NM_001100392.2:c.390C>T, NM_001100392.1:c.390C>T, NM_001100393.3:c.390C>T, NM_001100393.2:c.390C>T, NM_001100393.1:c.390C>T, XM_017013084.3:c.138C>T, XM_017013084.2:c.138C>T, XM_017013084.1:c.138C>T, NM_001354320.2:c.390C>T, NM_001354320.1:c.390C>T, NM_001354307.2:c.357C>T, NM_001354307.1:c.357C>T, NM_001354316.2:c.390C>T, NM_001354316.1:c.390C>T, NM_001354317.2:c.357C>T, NM_001354317.1:c.357C>T, NM_001354311.2:c.390C>T, NM_001354311.1:c.390C>T, XM_024447070.2:c.93C>T, XM_024447070.1:c.93C>T, NM_001354308.2:c.390C>T, NM_001354308.1:c.390C>T, XM_024447065.2:c.357C>T, XM_024447065.1:c.357C>T, NM_001354306.2:c.390C>T, NM_001354306.1:c.390C>T, NM_001354309.2:c.357C>T, NM_001354309.1:c.357C>T, NM_001354305.2:c.390C>T, NM_001354305.1:c.390C>T, XM_017013068.2:c.357C>T, XM_017013068.1:c.357C>T, NM_001354318.2:c.357C>T, NM_001354318.1:c.357C>T, XM_024447068.2:c.396C>T, XM_024447068.1:c.396C>T, NM_001354321.2:c.396C>T, NM_001354321.1:c.396C>T, NM_001354312.2:c.357C>T, NM_001354312.1:c.357C>T, NM_001354314.2:c.390C>T, NM_001354314.1:c.390C>T, NM_001354315.2:c.357C>T, NM_001354315.1:c.357C>T, NM_001354323.2:c.429C>T, NM_001354323.1:c.429C>T, NM_001354319.2:c.390C>T, NM_001354319.1:c.390C>T, NM_001354325.2:c.390C>T, NM_001354325.1:c.390C>T, NM_001354322.2:c.396C>T, NM_001354322.1:c.396C>T, NM_001354313.2:c.390C>T, NM_001354313.1:c.390C>T, XM_024447066.2:c.357C>T, XM_024447066.1:c.357C>T, NM_001354310.2:c.126C>T, NM_001354310.1:c.126C>T, XM_017013082.2:c.357C>T, XM_017013082.1:c.357C>T, XM_024447067.2:c.357C>T, XM_024447067.1:c.357C>T, XM_024447069.2:c.117C>T, XM_024447069.1:c.117C>T, XM_017013071.2:c.357C>T, XM_017013071.1:c.357C>T, NM_001287244.2:c.171C>T, NM_001287244.1:c.171C>T, XM_047421387.1:c.357C>T

                        12.

                        rs1453566163 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          8:84529423 (GRCh38)
                          8:85441658 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:84529422:G:C
                          Gene:
                          RALYL (Varview)
                          Functional Consequence:
                          intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (GnomAD_exomes)
                          C=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000008.11:g.84529423G>C, NC_000008.10:g.85441658G>C, NM_173848.7:c.102G>C, NM_173848.6:c.102G>C, NM_173848.5:c.102G>C, XM_011517462.4:c.102G>C, XM_011517462.3:c.102G>C, XM_011517462.2:c.102G>C, XM_011517462.1:c.102G>C, NM_001287243.3:c.102G>C, NM_001287243.2:c.102G>C, NM_001287243.1:c.102G>C, NM_001100391.3:c.141G>C, NM_001100391.2:c.141G>C, NM_001100391.1:c.141G>C, NM_001100392.3:c.102G>C, NM_001100392.2:c.102G>C, NM_001100392.1:c.102G>C, NM_001100393.3:c.102G>C, NM_001100393.2:c.102G>C, NM_001100393.1:c.102G>C, NM_001354320.2:c.102G>C, NM_001354320.1:c.102G>C, NM_001354307.2:c.102G>C, NM_001354307.1:c.102G>C, NM_001354316.2:c.102G>C, NM_001354316.1:c.102G>C, NM_001354317.2:c.102G>C, NM_001354317.1:c.102G>C, NM_001354311.2:c.102G>C, NM_001354311.1:c.102G>C, NM_001354308.2:c.102G>C, NM_001354308.1:c.102G>C, XM_024447065.2:c.102G>C, XM_024447065.1:c.102G>C, NM_001354306.2:c.102G>C, NM_001354306.1:c.102G>C, NM_001354309.2:c.102G>C, NM_001354309.1:c.102G>C, NM_001354305.2:c.102G>C, NM_001354305.1:c.102G>C, XM_017013068.2:c.102G>C, XM_017013068.1:c.102G>C, NM_001354318.2:c.102G>C, NM_001354318.1:c.102G>C, XM_024447068.2:c.141G>C, XM_024447068.1:c.141G>C, NM_001354321.2:c.141G>C, NM_001354321.1:c.141G>C, NM_001354312.2:c.102G>C, NM_001354312.1:c.102G>C, NM_001354314.2:c.102G>C, NM_001354314.1:c.102G>C, NM_001354315.2:c.102G>C, NM_001354315.1:c.102G>C, NM_001354323.2:c.141G>C, NM_001354323.1:c.141G>C, NM_001354319.2:c.102G>C, NM_001354319.1:c.102G>C, NM_001354325.2:c.102G>C, NM_001354325.1:c.102G>C, NM_001354322.2:c.141G>C, NM_001354322.1:c.141G>C, NM_001354313.2:c.102G>C, NM_001354313.1:c.102G>C, XM_024447066.2:c.102G>C, XM_024447066.1:c.102G>C, XM_017013082.2:c.102G>C, XM_017013082.1:c.102G>C, XM_024447067.2:c.102G>C, XM_024447067.1:c.102G>C, XM_017013071.2:c.102G>C, XM_017013071.1:c.102G>C, XM_047421387.1:c.102G>C, NP_776247.3:p.Lys34Asn, XP_011515764.1:p.Lys34Asn, NP_001274172.1:p.Lys34Asn, NP_001093861.1:p.Lys47Asn, NP_001093862.1:p.Lys34Asn, NP_001093863.1:p.Lys34Asn, NP_001341249.1:p.Lys34Asn, NP_001341236.1:p.Lys34Asn, NP_001341245.1:p.Lys34Asn, NP_001341246.1:p.Lys34Asn, NP_001341240.1:p.Lys34Asn, NP_001341237.1:p.Lys34Asn, XP_024302833.1:p.Lys34Asn, NP_001341235.1:p.Lys34Asn, NP_001341238.1:p.Lys34Asn, NP_001341234.1:p.Lys34Asn, XP_016868557.1:p.Lys34Asn, NP_001341247.1:p.Lys34Asn, XP_024302836.1:p.Lys47Asn, NP_001341250.1:p.Lys47Asn, NP_001341241.1:p.Lys34Asn, NP_001341243.1:p.Lys34Asn, NP_001341244.1:p.Lys34Asn, NP_001341252.1:p.Lys47Asn, NP_001341248.1:p.Lys34Asn, NP_001341254.1:p.Lys34Asn, NP_001341251.1:p.Lys47Asn, NP_001341242.1:p.Lys34Asn, XP_024302834.1:p.Lys34Asn, XP_016868571.1:p.Lys34Asn, XP_024302835.1:p.Lys34Asn, XP_016868560.1:p.Lys34Asn, XP_047277343.1:p.Lys34Asn

                          13.

                          rs1450118546 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            8:84850013 (GRCh38)
                            8:85762248 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:84850012:T:A
                            Gene:
                            RALYL (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            HGVS:
                            NC_000008.11:g.84850013T>A, NC_000008.10:g.85762248T>A, NM_173848.7:c.399T>A, NM_173848.6:c.399T>A, NM_173848.5:c.399T>A, XM_011517462.4:c.366T>A, XM_011517462.3:c.366T>A, XM_011517462.2:c.366T>A, XM_011517462.1:c.366T>A, NM_001287243.3:c.366T>A, NM_001287243.2:c.366T>A, NM_001287243.1:c.366T>A, NM_001100391.3:c.438T>A, NM_001100391.2:c.438T>A, NM_001100391.1:c.438T>A, NM_001100392.3:c.399T>A, NM_001100392.2:c.399T>A, NM_001100392.1:c.399T>A, NM_001100393.3:c.399T>A, NM_001100393.2:c.399T>A, NM_001100393.1:c.399T>A, XM_017013084.3:c.147T>A, XM_017013084.2:c.147T>A, XM_017013084.1:c.147T>A, NM_001354320.2:c.399T>A, NM_001354320.1:c.399T>A, NM_001354307.2:c.366T>A, NM_001354307.1:c.366T>A, NM_001354316.2:c.399T>A, NM_001354316.1:c.399T>A, NM_001354317.2:c.366T>A, NM_001354317.1:c.366T>A, NM_001354311.2:c.399T>A, NM_001354311.1:c.399T>A, XM_024447070.2:c.102T>A, XM_024447070.1:c.102T>A, NM_001354308.2:c.399T>A, NM_001354308.1:c.399T>A, XM_024447065.2:c.366T>A, XM_024447065.1:c.366T>A, NM_001354306.2:c.399T>A, NM_001354306.1:c.399T>A, NM_001354309.2:c.366T>A, NM_001354309.1:c.366T>A, NM_001354305.2:c.399T>A, NM_001354305.1:c.399T>A, XM_017013068.2:c.366T>A, XM_017013068.1:c.366T>A, NM_001354318.2:c.366T>A, NM_001354318.1:c.366T>A, XM_024447068.2:c.405T>A, XM_024447068.1:c.405T>A, NM_001354321.2:c.405T>A, NM_001354321.1:c.405T>A, NM_001354312.2:c.366T>A, NM_001354312.1:c.366T>A, NM_001354314.2:c.399T>A, NM_001354314.1:c.399T>A, NM_001354315.2:c.366T>A, NM_001354315.1:c.366T>A, NM_001354323.2:c.438T>A, NM_001354323.1:c.438T>A, NM_001354319.2:c.399T>A, NM_001354319.1:c.399T>A, NM_001354325.2:c.399T>A, NM_001354325.1:c.399T>A, NM_001354322.2:c.405T>A, NM_001354322.1:c.405T>A, NM_001354313.2:c.399T>A, NM_001354313.1:c.399T>A, XM_024447066.2:c.366T>A, XM_024447066.1:c.366T>A, NM_001354310.2:c.135T>A, NM_001354310.1:c.135T>A, XM_017013082.2:c.366T>A, XM_017013082.1:c.366T>A, XM_024447067.2:c.366T>A, XM_024447067.1:c.366T>A, XM_024447069.2:c.126T>A, XM_024447069.1:c.126T>A, XM_017013071.2:c.366T>A, XM_017013071.1:c.366T>A, NM_001287244.2:c.180T>A, NM_001287244.1:c.180T>A, XM_047421387.1:c.366T>A, NP_776247.3:p.Asp133Glu, XP_011515764.1:p.Asp122Glu, NP_001274172.1:p.Asp122Glu, NP_001093861.1:p.Asp146Glu, NP_001093862.1:p.Asp133Glu, NP_001093863.1:p.Asp133Glu, XP_016868573.1:p.Asp49Glu, NP_001341249.1:p.Asp133Glu, NP_001341236.1:p.Asp122Glu, NP_001341245.1:p.Asp133Glu, NP_001341246.1:p.Asp122Glu, NP_001341240.1:p.Asp133Glu, XP_024302838.1:p.Asp34Glu, NP_001341237.1:p.Asp133Glu, XP_024302833.1:p.Asp122Glu, NP_001341235.1:p.Asp133Glu, NP_001341238.1:p.Asp122Glu, NP_001341234.1:p.Asp133Glu, XP_016868557.1:p.Asp122Glu, NP_001341247.1:p.Asp122Glu, XP_024302836.1:p.Asp135Glu, NP_001341250.1:p.Asp135Glu, NP_001341241.1:p.Asp122Glu, NP_001341243.1:p.Asp133Glu, NP_001341244.1:p.Asp122Glu, NP_001341252.1:p.Asp146Glu, NP_001341248.1:p.Asp133Glu, NP_001341254.1:p.Asp133Glu, NP_001341251.1:p.Asp135Glu, NP_001341242.1:p.Asp133Glu, XP_024302834.1:p.Asp122Glu, NP_001341239.1:p.Asp45Glu, XP_016868571.1:p.Asp122Glu, XP_024302835.1:p.Asp122Glu, XP_024302837.1:p.Asp42Glu, XP_016868560.1:p.Asp122Glu, NP_001274173.1:p.Asp60Glu, XP_047277343.1:p.Asp122Glu

                            14.

                            rs1446745968 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              8:84887734 (GRCh38)
                              8:85799969 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:84887733:T:C
                              Gene:
                              RALYL (Varview)
                              Functional Consequence:
                              intron_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (GnomAD_exomes)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000008.11:g.84887734T>C, NC_000008.10:g.85799969T>C, NM_173848.7:c.816T>C, NM_173848.6:c.816T>C, NM_173848.5:c.816T>C, NM_001287243.3:c.783T>C, NM_001287243.2:c.783T>C, NM_001287243.1:c.783T>C, NM_001100391.3:c.855T>C, NM_001100391.2:c.855T>C, NM_001100391.1:c.855T>C, NM_001100392.3:c.816T>C, NM_001100392.2:c.816T>C, NM_001100392.1:c.816T>C, NM_001100393.3:c.816T>C, NM_001100393.2:c.816T>C, NM_001100393.1:c.816T>C, XM_017013084.3:c.564T>C, XM_017013084.2:c.564T>C, XM_017013084.1:c.564T>C, NM_001354320.2:c.816T>C, NM_001354320.1:c.816T>C, NM_001354307.2:c.783T>C, NM_001354307.1:c.783T>C, NM_001354316.2:c.816T>C, NM_001354316.1:c.816T>C, NM_001354317.2:c.783T>C, NM_001354317.1:c.783T>C, XM_024447070.2:c.519T>C, XM_024447070.1:c.519T>C, NM_001354308.2:c.816T>C, NM_001354308.1:c.816T>C, XM_024447065.2:c.783T>C, XM_024447065.1:c.783T>C, NM_001354306.2:c.816T>C, NM_001354306.1:c.816T>C, NM_001354309.2:c.783T>C, NM_001354309.1:c.783T>C, NM_001354305.2:c.816T>C, NM_001354305.1:c.816T>C, XM_017013068.2:c.783T>C, XM_017013068.1:c.783T>C, NM_001354318.2:c.783T>C, NM_001354318.1:c.783T>C, NM_001354321.2:c.822T>C, NM_001354321.1:c.822T>C, NM_001354312.2:c.783T>C, NM_001354312.1:c.783T>C, NM_001354314.2:c.813T>C, NM_001354314.1:c.813T>C, NM_001354315.2:c.783T>C, NM_001354315.1:c.783T>C, NM_001354325.2:c.816T>C, NM_001354325.1:c.816T>C, XM_024447066.2:c.783T>C, XM_024447066.1:c.783T>C, NM_001354310.2:c.552T>C, NM_001354310.1:c.552T>C, XM_024447067.2:c.783T>C, XM_024447067.1:c.783T>C, XM_024447069.2:c.543T>C, XM_024447069.1:c.543T>C, XM_017013071.2:c.783T>C, XM_017013071.1:c.783T>C, NM_001287244.2:c.597T>C, NM_001287244.1:c.597T>C

                              15.

                              rs1433236969 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                8:84862435 (GRCh38)
                                8:85774670 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:84862434:G:A
                                Gene:
                                RALYL (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000008.11:g.84862435G>A, NC_000008.10:g.85774670G>A, NM_173848.7:c.553G>A, NM_173848.6:c.553G>A, NM_173848.5:c.553G>A, XM_011517462.4:c.520G>A, XM_011517462.3:c.520G>A, XM_011517462.2:c.520G>A, XM_011517462.1:c.520G>A, NM_001287243.3:c.520G>A, NM_001287243.2:c.520G>A, NM_001287243.1:c.520G>A, NM_001100391.3:c.592G>A, NM_001100391.2:c.592G>A, NM_001100391.1:c.592G>A, NM_001100392.3:c.553G>A, NM_001100392.2:c.553G>A, NM_001100392.1:c.553G>A, NM_001100393.3:c.553G>A, NM_001100393.2:c.553G>A, NM_001100393.1:c.553G>A, XM_017013084.3:c.301G>A, XM_017013084.2:c.301G>A, XM_017013084.1:c.301G>A, NM_001354320.2:c.553G>A, NM_001354320.1:c.553G>A, NM_001354307.2:c.520G>A, NM_001354307.1:c.520G>A, NM_001354316.2:c.553G>A, NM_001354316.1:c.553G>A, NM_001354317.2:c.520G>A, NM_001354317.1:c.520G>A, NM_001354311.2:c.553G>A, NM_001354311.1:c.553G>A, XM_024447070.2:c.256G>A, XM_024447070.1:c.256G>A, NM_001354308.2:c.553G>A, NM_001354308.1:c.553G>A, XM_024447065.2:c.520G>A, XM_024447065.1:c.520G>A, NM_001354306.2:c.553G>A, NM_001354306.1:c.553G>A, NM_001354309.2:c.520G>A, NM_001354309.1:c.520G>A, NM_001354305.2:c.553G>A, NM_001354305.1:c.553G>A, XM_017013068.2:c.520G>A, XM_017013068.1:c.520G>A, NM_001354318.2:c.520G>A, NM_001354318.1:c.520G>A, XM_024447068.2:c.559G>A, XM_024447068.1:c.559G>A, NM_001354321.2:c.559G>A, NM_001354321.1:c.559G>A, NM_001354312.2:c.520G>A, NM_001354312.1:c.520G>A, NM_001354314.2:c.553G>A, NM_001354314.1:c.553G>A, NM_001354315.2:c.520G>A, NM_001354315.1:c.520G>A, NM_001354323.2:c.592G>A, NM_001354323.1:c.592G>A, NM_001354319.2:c.553G>A, NM_001354319.1:c.553G>A, NM_001354325.2:c.553G>A, NM_001354325.1:c.553G>A, NM_001354322.2:c.559G>A, NM_001354322.1:c.559G>A, NM_001354313.2:c.553G>A, NM_001354313.1:c.553G>A, XM_024447066.2:c.520G>A, XM_024447066.1:c.520G>A, NM_001354310.2:c.289G>A, NM_001354310.1:c.289G>A, XM_017013082.2:c.520G>A, XM_017013082.1:c.520G>A, XM_024447067.2:c.520G>A, XM_024447067.1:c.520G>A, XM_024447069.2:c.280G>A, XM_024447069.1:c.280G>A, XM_017013071.2:c.520G>A, XM_017013071.1:c.520G>A, NM_001287244.2:c.334G>A, NM_001287244.1:c.334G>A, XM_047421387.1:c.520G>A, NP_776247.3:p.Gly185Arg, XP_011515764.1:p.Gly174Arg, NP_001274172.1:p.Gly174Arg, NP_001093861.1:p.Gly198Arg, NP_001093862.1:p.Gly185Arg, NP_001093863.1:p.Gly185Arg, XP_016868573.1:p.Gly101Arg, NP_001341249.1:p.Gly185Arg, NP_001341236.1:p.Gly174Arg, NP_001341245.1:p.Gly185Arg, NP_001341246.1:p.Gly174Arg, NP_001341240.1:p.Gly185Arg, XP_024302838.1:p.Gly86Arg, NP_001341237.1:p.Gly185Arg, XP_024302833.1:p.Gly174Arg, NP_001341235.1:p.Gly185Arg, NP_001341238.1:p.Gly174Arg, NP_001341234.1:p.Gly185Arg, XP_016868557.1:p.Gly174Arg, NP_001341247.1:p.Gly174Arg, XP_024302836.1:p.Gly187Arg, NP_001341250.1:p.Gly187Arg, NP_001341241.1:p.Gly174Arg, NP_001341243.1:p.Gly185Arg, NP_001341244.1:p.Gly174Arg, NP_001341252.1:p.Gly198Arg, NP_001341248.1:p.Gly185Arg, NP_001341254.1:p.Gly185Arg, NP_001341251.1:p.Gly187Arg, NP_001341242.1:p.Gly185Arg, XP_024302834.1:p.Gly174Arg, NP_001341239.1:p.Gly97Arg, XP_016868571.1:p.Gly174Arg, XP_024302835.1:p.Gly174Arg, XP_024302837.1:p.Gly94Arg, XP_016868560.1:p.Gly174Arg, NP_001274173.1:p.Gly112Arg, XP_047277343.1:p.Gly174Arg

                                16.

                                rs1432084751 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,T [Show Flanks]
                                  Chromosome:
                                  8:84873324 (GRCh38)
                                  8:85785559 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:84873323:C:A,NC_000008.11:84873323:C:T
                                  Gene:
                                  RALYL (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by cluster
                                  HGVS:
                                  NC_000008.11:g.84873324C>A, NC_000008.11:g.84873324C>T, NC_000008.10:g.85785559C>A, NC_000008.10:g.85785559C>T, NM_173848.7:c.612C>A, NM_173848.7:c.612C>T, NM_173848.6:c.612C>A, NM_173848.6:c.612C>T, NM_173848.5:c.612C>A, NM_173848.5:c.612C>T, XM_011517462.4:c.579C>A, XM_011517462.4:c.579C>T, XM_011517462.3:c.579C>A, XM_011517462.3:c.579C>T, XM_011517462.2:c.579C>A, XM_011517462.2:c.579C>T, XM_011517462.1:c.579C>A, XM_011517462.1:c.579C>T, NM_001287243.3:c.579C>A, NM_001287243.3:c.579C>T, NM_001287243.2:c.579C>A, NM_001287243.2:c.579C>T, NM_001287243.1:c.579C>A, NM_001287243.1:c.579C>T, NM_001100391.3:c.651C>A, NM_001100391.3:c.651C>T, NM_001100391.2:c.651C>A, NM_001100391.2:c.651C>T, NM_001100391.1:c.651C>A, NM_001100391.1:c.651C>T, NM_001100392.3:c.612C>A, NM_001100392.3:c.612C>T, NM_001100392.2:c.612C>A, NM_001100392.2:c.612C>T, NM_001100392.1:c.612C>A, NM_001100392.1:c.612C>T, NM_001100393.3:c.612C>A, NM_001100393.3:c.612C>T, NM_001100393.2:c.612C>A, NM_001100393.2:c.612C>T, NM_001100393.1:c.612C>A, NM_001100393.1:c.612C>T, XM_017013084.3:c.360C>A, XM_017013084.3:c.360C>T, XM_017013084.2:c.360C>A, XM_017013084.2:c.360C>T, XM_017013084.1:c.360C>A, XM_017013084.1:c.360C>T, NM_001354320.2:c.612C>A, NM_001354320.2:c.612C>T, NM_001354320.1:c.612C>A, NM_001354320.1:c.612C>T, NM_001354307.2:c.579C>A, NM_001354307.2:c.579C>T, NM_001354307.1:c.579C>A, NM_001354307.1:c.579C>T, NM_001354316.2:c.612C>A, NM_001354316.2:c.612C>T, NM_001354316.1:c.612C>A, NM_001354316.1:c.612C>T, NM_001354317.2:c.579C>A, NM_001354317.2:c.579C>T, NM_001354317.1:c.579C>A, NM_001354317.1:c.579C>T, NM_001354311.2:c.612C>A, NM_001354311.2:c.612C>T, NM_001354311.1:c.612C>A, NM_001354311.1:c.612C>T, XM_024447070.2:c.315C>A, XM_024447070.2:c.315C>T, XM_024447070.1:c.315C>A, XM_024447070.1:c.315C>T, NM_001354308.2:c.612C>A, NM_001354308.2:c.612C>T, NM_001354308.1:c.612C>A, NM_001354308.1:c.612C>T, XM_024447065.2:c.579C>A, XM_024447065.2:c.579C>T, XM_024447065.1:c.579C>A, XM_024447065.1:c.579C>T, NM_001354306.2:c.612C>A, NM_001354306.2:c.612C>T, NM_001354306.1:c.612C>A, NM_001354306.1:c.612C>T, NM_001354309.2:c.579C>A, NM_001354309.2:c.579C>T, NM_001354309.1:c.579C>A, NM_001354309.1:c.579C>T, NM_001354305.2:c.612C>A, NM_001354305.2:c.612C>T, NM_001354305.1:c.612C>A, NM_001354305.1:c.612C>T, XM_017013068.2:c.579C>A, XM_017013068.2:c.579C>T, XM_017013068.1:c.579C>A, XM_017013068.1:c.579C>T, NM_001354318.2:c.579C>A, NM_001354318.2:c.579C>T, NM_001354318.1:c.579C>A, NM_001354318.1:c.579C>T, XM_024447068.2:c.618C>A, XM_024447068.2:c.618C>T, XM_024447068.1:c.618C>A, XM_024447068.1:c.618C>T, NM_001354321.2:c.618C>A, NM_001354321.2:c.618C>T, NM_001354321.1:c.618C>A, NM_001354321.1:c.618C>T, NM_001354312.2:c.579C>A, NM_001354312.2:c.579C>T, NM_001354312.1:c.579C>A, NM_001354312.1:c.579C>T, NM_001354314.2:c.612C>A, NM_001354314.2:c.612C>T, NM_001354314.1:c.612C>A, NM_001354314.1:c.612C>T, NM_001354315.2:c.579C>A, NM_001354315.2:c.579C>T, NM_001354315.1:c.579C>A, NM_001354315.1:c.579C>T, NM_001354323.2:c.651C>A, NM_001354323.2:c.651C>T, NM_001354323.1:c.651C>A, NM_001354323.1:c.651C>T, NM_001354319.2:c.612C>A, NM_001354319.2:c.612C>T, NM_001354319.1:c.612C>A, NM_001354319.1:c.612C>T, NM_001354325.2:c.612C>A, NM_001354325.2:c.612C>T, NM_001354325.1:c.612C>A, NM_001354325.1:c.612C>T, NM_001354322.2:c.618C>A, NM_001354322.2:c.618C>T, NM_001354322.1:c.618C>A, NM_001354322.1:c.618C>T, NM_001354313.2:c.612C>A, NM_001354313.2:c.612C>T, NM_001354313.1:c.612C>A, NM_001354313.1:c.612C>T, XM_024447066.2:c.579C>A, XM_024447066.2:c.579C>T, XM_024447066.1:c.579C>A, XM_024447066.1:c.579C>T, NM_001354310.2:c.348C>A, NM_001354310.2:c.348C>T, NM_001354310.1:c.348C>A, NM_001354310.1:c.348C>T, XM_017013082.2:c.579C>A, XM_017013082.2:c.579C>T, XM_017013082.1:c.579C>A, XM_017013082.1:c.579C>T, XM_024447067.2:c.579C>A, XM_024447067.2:c.579C>T, XM_024447067.1:c.579C>A, XM_024447067.1:c.579C>T, XM_024447069.2:c.339C>A, XM_024447069.2:c.339C>T, XM_024447069.1:c.339C>A, XM_024447069.1:c.339C>T, XM_017013071.2:c.579C>A, XM_017013071.2:c.579C>T, XM_017013071.1:c.579C>A, XM_017013071.1:c.579C>T, NM_001287244.2:c.393C>A, NM_001287244.2:c.393C>T, NM_001287244.1:c.393C>A, NM_001287244.1:c.393C>T, XM_047421387.1:c.579C>A, XM_047421387.1:c.579C>T

                                  17.

                                  rs1429930155 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    8:84529563 (GRCh38)
                                    8:85441798 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:84529562:C:T
                                    Gene:
                                    RALYL (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000008.11:g.84529563C>T, NC_000008.10:g.85441798C>T, NM_173848.7:c.242C>T, NM_173848.6:c.242C>T, NM_173848.5:c.242C>T, XM_011517462.4:c.242C>T, XM_011517462.3:c.242C>T, XM_011517462.2:c.242C>T, XM_011517462.1:c.242C>T, NM_001287243.3:c.242C>T, NM_001287243.2:c.242C>T, NM_001287243.1:c.242C>T, NM_001100391.3:c.281C>T, NM_001100391.2:c.281C>T, NM_001100391.1:c.281C>T, NM_001100392.3:c.242C>T, NM_001100392.2:c.242C>T, NM_001100392.1:c.242C>T, NM_001100393.3:c.242C>T, NM_001100393.2:c.242C>T, NM_001100393.1:c.242C>T, NM_001354320.2:c.242C>T, NM_001354320.1:c.242C>T, NM_001354307.2:c.242C>T, NM_001354307.1:c.242C>T, NM_001354316.2:c.242C>T, NM_001354316.1:c.242C>T, NM_001354317.2:c.242C>T, NM_001354317.1:c.242C>T, NM_001354311.2:c.242C>T, NM_001354311.1:c.242C>T, NM_001354308.2:c.242C>T, NM_001354308.1:c.242C>T, XM_024447065.2:c.242C>T, XM_024447065.1:c.242C>T, NM_001354306.2:c.242C>T, NM_001354306.1:c.242C>T, NM_001354309.2:c.242C>T, NM_001354309.1:c.242C>T, NM_001354305.2:c.242C>T, NM_001354305.1:c.242C>T, XM_017013068.2:c.242C>T, XM_017013068.1:c.242C>T, NM_001354318.2:c.242C>T, NM_001354318.1:c.242C>T, XM_024447068.2:c.281C>T, XM_024447068.1:c.281C>T, NM_001354321.2:c.281C>T, NM_001354321.1:c.281C>T, NM_001354312.2:c.242C>T, NM_001354312.1:c.242C>T, NM_001354314.2:c.242C>T, NM_001354314.1:c.242C>T, NM_001354315.2:c.242C>T, NM_001354315.1:c.242C>T, NM_001354323.2:c.281C>T, NM_001354323.1:c.281C>T, NM_001354319.2:c.242C>T, NM_001354319.1:c.242C>T, NM_001354325.2:c.242C>T, NM_001354325.1:c.242C>T, NM_001354322.2:c.281C>T, NM_001354322.1:c.281C>T, NM_001354313.2:c.242C>T, NM_001354313.1:c.242C>T, XM_024447066.2:c.242C>T, XM_024447066.1:c.242C>T, XM_017013082.2:c.242C>T, XM_017013082.1:c.242C>T, XM_024447067.2:c.242C>T, XM_024447067.1:c.242C>T, XM_017013071.2:c.242C>T, XM_017013071.1:c.242C>T, XM_047421387.1:c.242C>T, NP_776247.3:p.Ala81Val, XP_011515764.1:p.Ala81Val, NP_001274172.1:p.Ala81Val, NP_001093861.1:p.Ala94Val, NP_001093862.1:p.Ala81Val, NP_001093863.1:p.Ala81Val, NP_001341249.1:p.Ala81Val, NP_001341236.1:p.Ala81Val, NP_001341245.1:p.Ala81Val, NP_001341246.1:p.Ala81Val, NP_001341240.1:p.Ala81Val, NP_001341237.1:p.Ala81Val, XP_024302833.1:p.Ala81Val, NP_001341235.1:p.Ala81Val, NP_001341238.1:p.Ala81Val, NP_001341234.1:p.Ala81Val, XP_016868557.1:p.Ala81Val, NP_001341247.1:p.Ala81Val, XP_024302836.1:p.Ala94Val, NP_001341250.1:p.Ala94Val, NP_001341241.1:p.Ala81Val, NP_001341243.1:p.Ala81Val, NP_001341244.1:p.Ala81Val, NP_001341252.1:p.Ala94Val, NP_001341248.1:p.Ala81Val, NP_001341254.1:p.Ala81Val, NP_001341251.1:p.Ala94Val, NP_001341242.1:p.Ala81Val, XP_024302834.1:p.Ala81Val, XP_016868571.1:p.Ala81Val, XP_024302835.1:p.Ala81Val, XP_016868560.1:p.Ala81Val, XP_047277343.1:p.Ala81Val

                                    18.

                                    rs1425408495 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      8:84887680 (GRCh38)
                                      8:85799915 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:84887679:T:G
                                      Gene:
                                      RALYL (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000008.11:g.84887680T>G, NC_000008.10:g.85799915T>G, NM_173848.7:c.762T>G, NM_173848.6:c.762T>G, NM_173848.5:c.762T>G, NM_001287243.3:c.729T>G, NM_001287243.2:c.729T>G, NM_001287243.1:c.729T>G, NM_001100391.3:c.801T>G, NM_001100391.2:c.801T>G, NM_001100391.1:c.801T>G, NM_001100392.3:c.762T>G, NM_001100392.2:c.762T>G, NM_001100392.1:c.762T>G, NM_001100393.3:c.762T>G, NM_001100393.2:c.762T>G, NM_001100393.1:c.762T>G, XM_017013084.3:c.510T>G, XM_017013084.2:c.510T>G, XM_017013084.1:c.510T>G, NM_001354320.2:c.762T>G, NM_001354320.1:c.762T>G, NM_001354307.2:c.729T>G, NM_001354307.1:c.729T>G, NM_001354316.2:c.762T>G, NM_001354316.1:c.762T>G, NM_001354317.2:c.729T>G, NM_001354317.1:c.729T>G, XM_024447070.2:c.465T>G, XM_024447070.1:c.465T>G, NM_001354308.2:c.762T>G, NM_001354308.1:c.762T>G, XM_024447065.2:c.729T>G, XM_024447065.1:c.729T>G, NM_001354306.2:c.762T>G, NM_001354306.1:c.762T>G, NM_001354309.2:c.729T>G, NM_001354309.1:c.729T>G, NM_001354305.2:c.762T>G, NM_001354305.1:c.762T>G, XM_017013068.2:c.729T>G, XM_017013068.1:c.729T>G, NM_001354318.2:c.729T>G, NM_001354318.1:c.729T>G, NM_001354321.2:c.768T>G, NM_001354321.1:c.768T>G, NM_001354312.2:c.729T>G, NM_001354312.1:c.729T>G, NM_001354314.2:c.759T>G, NM_001354314.1:c.759T>G, NM_001354315.2:c.729T>G, NM_001354315.1:c.729T>G, NM_001354325.2:c.762T>G, NM_001354325.1:c.762T>G, XM_024447066.2:c.729T>G, XM_024447066.1:c.729T>G, NM_001354310.2:c.498T>G, NM_001354310.1:c.498T>G, XM_024447067.2:c.729T>G, XM_024447067.1:c.729T>G, XM_024447069.2:c.489T>G, XM_024447069.1:c.489T>G, XM_017013071.2:c.729T>G, XM_017013071.1:c.729T>G, NM_001287244.2:c.543T>G, NM_001287244.1:c.543T>G

                                      19.

                                      rs1424165507 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        8:84774646 (GRCh38)
                                        8:85686881 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:84774645:A:G
                                        Gene:
                                        RALYL (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000008.11:g.84774646A>G, NC_000008.10:g.85686881A>G, NM_173848.7:c.324A>G, NM_173848.6:c.324A>G, NM_173848.5:c.324A>G, XM_011517462.4:c.324A>G, XM_011517462.3:c.324A>G, XM_011517462.2:c.324A>G, XM_011517462.1:c.324A>G, NM_001287243.3:c.324A>G, NM_001287243.2:c.324A>G, NM_001287243.1:c.324A>G, NM_001100391.3:c.363A>G, NM_001100391.2:c.363A>G, NM_001100391.1:c.363A>G, NM_001100392.3:c.324A>G, NM_001100392.2:c.324A>G, NM_001100392.1:c.324A>G, NM_001100393.3:c.324A>G, NM_001100393.2:c.324A>G, NM_001100393.1:c.324A>G, XM_017013084.3:c.105A>G, XM_017013084.2:c.105A>G, XM_017013084.1:c.105A>G, NM_001354320.2:c.324A>G, NM_001354320.1:c.324A>G, NM_001354307.2:c.324A>G, NM_001354307.1:c.324A>G, NM_001354316.2:c.324A>G, NM_001354316.1:c.324A>G, NM_001354317.2:c.324A>G, NM_001354317.1:c.324A>G, NM_001354311.2:c.324A>G, NM_001354311.1:c.324A>G, XM_024447070.2:c.60A>G, XM_024447070.1:c.60A>G, NM_001354308.2:c.324A>G, NM_001354308.1:c.324A>G, XM_024447065.2:c.324A>G, XM_024447065.1:c.324A>G, NM_001354306.2:c.324A>G, NM_001354306.1:c.324A>G, NM_001354309.2:c.324A>G, NM_001354309.1:c.324A>G, NM_001354305.2:c.324A>G, NM_001354305.1:c.324A>G, XM_017013068.2:c.324A>G, XM_017013068.1:c.324A>G, NM_001354318.2:c.324A>G, NM_001354318.1:c.324A>G, XM_024447068.2:c.363A>G, XM_024447068.1:c.363A>G, NM_001354321.2:c.363A>G, NM_001354321.1:c.363A>G, NM_001354312.2:c.324A>G, NM_001354312.1:c.324A>G, NM_001354314.2:c.324A>G, NM_001354314.1:c.324A>G, NM_001354315.2:c.324A>G, NM_001354315.1:c.324A>G, NM_001354323.2:c.363A>G, NM_001354323.1:c.363A>G, NM_001354319.2:c.324A>G, NM_001354319.1:c.324A>G, NM_001354325.2:c.324A>G, NM_001354325.1:c.324A>G, NM_001354322.2:c.363A>G, NM_001354322.1:c.363A>G, NM_001354313.2:c.324A>G, NM_001354313.1:c.324A>G, XM_024447066.2:c.324A>G, XM_024447066.1:c.324A>G, NM_001354310.2:c.60A>G, NM_001354310.1:c.60A>G, XM_017013082.2:c.324A>G, XM_017013082.1:c.324A>G, XM_024447067.2:c.324A>G, XM_024447067.1:c.324A>G, XM_024447069.2:c.84A>G, XM_024447069.1:c.84A>G, XM_017013071.2:c.324A>G, XM_017013071.1:c.324A>G, NM_001287244.2:c.105A>G, NM_001287244.1:c.105A>G, XM_047421387.1:c.324A>G

                                        20.

                                        rs1409286173 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          8:84774595 (GRCh38)
                                          8:85686830 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:84774594:A:G
                                          Gene:
                                          RALYL (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant
                                          HGVS:
                                          NC_000008.11:g.84774595A>G, NC_000008.10:g.85686830A>G, NM_173848.7:c.273A>G, NM_173848.6:c.273A>G, NM_173848.5:c.273A>G, XM_011517462.4:c.273A>G, XM_011517462.3:c.273A>G, XM_011517462.2:c.273A>G, XM_011517462.1:c.273A>G, NM_001287243.3:c.273A>G, NM_001287243.2:c.273A>G, NM_001287243.1:c.273A>G, NM_001100391.3:c.312A>G, NM_001100391.2:c.312A>G, NM_001100391.1:c.312A>G, NM_001100392.3:c.273A>G, NM_001100392.2:c.273A>G, NM_001100392.1:c.273A>G, NM_001100393.3:c.273A>G, NM_001100393.2:c.273A>G, NM_001100393.1:c.273A>G, XM_017013084.3:c.54A>G, XM_017013084.2:c.54A>G, XM_017013084.1:c.54A>G, NM_001354320.2:c.273A>G, NM_001354320.1:c.273A>G, NM_001354307.2:c.273A>G, NM_001354307.1:c.273A>G, NM_001354316.2:c.273A>G, NM_001354316.1:c.273A>G, NM_001354317.2:c.273A>G, NM_001354317.1:c.273A>G, NM_001354311.2:c.273A>G, NM_001354311.1:c.273A>G, XM_024447070.2:c.9A>G, XM_024447070.1:c.9A>G, NM_001354308.2:c.273A>G, NM_001354308.1:c.273A>G, XM_024447065.2:c.273A>G, XM_024447065.1:c.273A>G, NM_001354306.2:c.273A>G, NM_001354306.1:c.273A>G, NM_001354309.2:c.273A>G, NM_001354309.1:c.273A>G, NM_001354305.2:c.273A>G, NM_001354305.1:c.273A>G, XM_017013068.2:c.273A>G, XM_017013068.1:c.273A>G, NM_001354318.2:c.273A>G, NM_001354318.1:c.273A>G, XM_024447068.2:c.312A>G, XM_024447068.1:c.312A>G, NM_001354321.2:c.312A>G, NM_001354321.1:c.312A>G, NM_001354312.2:c.273A>G, NM_001354312.1:c.273A>G, NM_001354314.2:c.273A>G, NM_001354314.1:c.273A>G, NM_001354315.2:c.273A>G, NM_001354315.1:c.273A>G, NM_001354323.2:c.312A>G, NM_001354323.1:c.312A>G, NM_001354319.2:c.273A>G, NM_001354319.1:c.273A>G, NM_001354325.2:c.273A>G, NM_001354325.1:c.273A>G, NM_001354322.2:c.312A>G, NM_001354322.1:c.312A>G, NM_001354313.2:c.273A>G, NM_001354313.1:c.273A>G, XM_024447066.2:c.273A>G, XM_024447066.1:c.273A>G, NM_001354310.2:c.9A>G, NM_001354310.1:c.9A>G, XM_017013082.2:c.273A>G, XM_017013082.1:c.273A>G, XM_024447067.2:c.273A>G, XM_024447067.1:c.273A>G, XM_024447069.2:c.33A>G, XM_024447069.1:c.33A>G, XM_017013071.2:c.273A>G, XM_017013071.1:c.273A>G, NM_001287244.2:c.54A>G, NM_001287244.1:c.54A>G, XM_047421387.1:c.273A>G

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