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Items: 1 to 20 of 706

1.

rs1490986575 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    12:57258027 (GRCh38)
    12:57651810 (GRCh37)
    Canonical SPDI:
    NC_000012.12:57258026:G:T
    Gene:
    R3HDM2 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    HGVS:
    NC_000012.12:g.57258027G>T, NC_000012.11:g.57651810G>T, NM_014925.5:c.2370C>A, NM_014925.4:c.2370C>A, NM_014925.3:c.2370C>A, NM_001351207.2:c.2538C>A, NM_001351207.1:c.2538C>A, NM_001351208.2:c.2514C>A, NM_001351208.1:c.2514C>A, NM_001351204.2:c.2568C>A, NM_001351204.1:c.2568C>A, NM_001351206.2:c.2568C>A, NM_001351206.1:c.2568C>A, NM_001330121.2:c.2472C>A, NM_001330121.1:c.2472C>A, NM_001330122.2:c.2472C>A, NM_001330122.1:c.2472C>A, NM_001351205.2:c.2568C>A, NM_001351205.1:c.2568C>A, NM_001351209.2:c.2466C>A, NM_001351209.1:c.2466C>A, NM_001351211.2:c.2436C>A, NM_001351211.1:c.2436C>A, NM_001351212.2:c.2418C>A, NM_001351212.1:c.2418C>A, NM_001351215.2:c.2418C>A, NM_001351215.1:c.2418C>A, NM_001351216.2:c.2406C>A, NM_001351216.1:c.2406C>A, NM_001351213.2:c.2418C>A, NM_001351213.1:c.2418C>A, NM_001330123.2:c.2340C>A, NM_001330123.1:c.2340C>A, NM_001351218.2:c.2316C>A, NM_001351218.1:c.2316C>A, NM_001351214.2:c.2418C>A, NM_001351214.1:c.2418C>A, NM_001351217.2:c.2316C>A, NM_001351217.1:c.2316C>A, XM_024448885.2:c.2553C>A, XM_024448885.1:c.2406C>A, XM_017019009.2:c.2541C>A, XM_017019009.1:c.2394C>A, XM_017019012.2:c.2523C>A, XM_017019012.1:c.2376C>A, XM_017019020.2:c.2427C>A, XM_017019020.1:c.2280C>A, XM_047428507.1:c.2688C>A, XM_047428513.1:c.2592C>A, XM_047428510.1:c.2592C>A, XM_047428514.1:c.2592C>A, XM_047428521.1:c.2514C>A, XM_047428517.1:c.2568C>A, XM_047428523.1:c.2490C>A, XM_047428512.1:c.2592C>A, XM_047428519.1:c.2538C>A, XM_047428525.1:c.2466C>A, NM_001394031.1:c.2412C>A, XM_047428530.1:c.2409C>A, XM_047428527.1:c.2436C>A, XM_047428532.1:c.2352C>A, XM_047428506.1:c.2739C>A, XM_047428529.1:c.2412C>A, XM_047428515.1:c.2592C>A, XM_047428511.1:c.2592C>A, XM_047428534.1:c.2256C>A, XM_047428508.1:c.2637C>A, XM_047428509.1:c.2613C>A, XM_047428518.1:c.2559C>A, XM_047428516.1:c.2583C>A, XM_047428528.1:c.2412C>A, XM_047428520.1:c.2517C>A, XM_047428522.1:c.2499C>A, XM_047428524.1:c.2487C>A, XM_047428533.1:c.2316C>A, XM_047428526.1:c.2463C>A, XM_047428535.1:c.1653C>A, XM_047428536.1:c.1353C>A

    2.

    rs1490865742 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      12:57299451 (GRCh38)
      12:57693234 (GRCh37)
      Canonical SPDI:
      NC_000012.12:57299450:G:C
      Gene:
      R3HDM2 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.000051/1 (ALFA)
      C=0.000006/1 (GnomAD_exomes)
      C=0.000007/1 (GnomAD)
      HGVS:
      NC_000012.12:g.57299451G>C, NC_000012.11:g.57693234G>C, NM_014925.5:c.322C>G, NM_014925.4:c.322C>G, NM_014925.3:c.322C>G, NM_001351207.2:c.346C>G, NM_001351207.1:c.346C>G, NM_001351208.2:c.322C>G, NM_001351208.1:c.322C>G, NM_001351204.2:c.322C>G, NM_001351204.1:c.322C>G, NM_001351206.2:c.322C>G, NM_001351206.1:c.322C>G, NM_001330121.2:c.322C>G, NM_001330121.1:c.322C>G, NM_001330122.2:c.322C>G, NM_001330122.1:c.322C>G, NM_001351205.2:c.322C>G, NM_001351205.1:c.322C>G, NM_001351209.2:c.322C>G, NM_001351209.1:c.322C>G, NM_001351211.2:c.346C>G, NM_001351211.1:c.346C>G, NM_001351212.2:c.322C>G, NM_001351212.1:c.322C>G, NM_001351215.2:c.322C>G, NM_001351215.1:c.322C>G, NM_001351216.2:c.322C>G, NM_001351216.1:c.322C>G, NM_001351213.2:c.322C>G, NM_001351213.1:c.322C>G, NM_001330123.2:c.346C>G, NM_001330123.1:c.346C>G, NM_001351218.2:c.322C>G, NM_001351218.1:c.322C>G, NM_001351214.2:c.322C>G, NM_001351214.1:c.322C>G, NM_001351217.2:c.322C>G, NM_001351217.1:c.322C>G, XM_024448885.2:c.469C>G, XM_024448885.1:c.322C>G, XM_017019009.2:c.493C>G, XM_017019009.1:c.346C>G, XM_017019012.2:c.493C>G, XM_017019012.1:c.346C>G, XM_017019020.2:c.493C>G, XM_017019020.1:c.346C>G, XM_047428507.1:c.442C>G, XM_047428513.1:c.346C>G, XM_047428510.1:c.346C>G, XM_047428514.1:c.346C>G, XM_047428521.1:c.322C>G, XM_047428517.1:c.322C>G, XM_047428523.1:c.346C>G, XM_047428512.1:c.346C>G, XM_047428519.1:c.346C>G, XM_047428525.1:c.322C>G, NM_001394031.1:c.322C>G, XM_047428530.1:c.163C>G, XM_047428527.1:c.346C>G, XM_047428532.1:c.322C>G, XM_047428506.1:c.493C>G, XM_047428529.1:c.322C>G, XM_047428515.1:c.346C>G, XM_047428511.1:c.346C>G, XM_047428534.1:c.322C>G, XM_047428508.1:c.493C>G, XM_047428509.1:c.469C>G, XM_047428518.1:c.469C>G, XM_047428516.1:c.493C>G, XM_047428528.1:c.322C>G, XM_047428520.1:c.469C>G, XM_047428522.1:c.469C>G, XM_047428524.1:c.493C>G, XM_047428533.1:c.322C>G, XM_047428526.1:c.469C>G, NP_055740.3:p.Pro108Ala, NP_001338136.1:p.Pro116Ala, NP_001338137.1:p.Pro108Ala, NP_001338133.1:p.Pro108Ala, NP_001338135.1:p.Pro108Ala, NP_001317050.1:p.Pro108Ala, NP_001317051.1:p.Pro108Ala, NP_001338134.1:p.Pro108Ala, NP_001338138.1:p.Pro108Ala, NP_001338140.1:p.Pro116Ala, NP_001338141.1:p.Pro108Ala, NP_001338144.1:p.Pro108Ala, NP_001338145.1:p.Pro108Ala, NP_001338142.1:p.Pro108Ala, NP_001317052.1:p.Pro116Ala, NP_001338147.1:p.Pro108Ala, NP_001338143.1:p.Pro108Ala, NP_001338146.1:p.Pro108Ala, XP_024304653.2:p.Pro157Ala, XP_016874498.2:p.Pro165Ala, XP_016874501.2:p.Pro165Ala, XP_016874509.2:p.Pro165Ala, XP_047284463.1:p.Pro148Ala, XP_047284469.1:p.Pro116Ala, XP_047284466.1:p.Pro116Ala, XP_047284470.1:p.Pro116Ala, XP_047284477.1:p.Pro108Ala, XP_047284473.1:p.Pro108Ala, XP_047284479.1:p.Pro116Ala, XP_047284468.1:p.Pro116Ala, XP_047284475.1:p.Pro116Ala, XP_047284481.1:p.Pro108Ala, NP_001380960.1:p.Pro108Ala, XP_047284486.1:p.Pro55Ala, XP_047284483.1:p.Pro116Ala, XP_047284488.1:p.Pro108Ala, XP_047284462.1:p.Pro165Ala, XP_047284485.1:p.Pro108Ala, XP_047284471.1:p.Pro116Ala, XP_047284467.1:p.Pro116Ala, XP_047284490.1:p.Pro108Ala, XP_047284464.1:p.Pro165Ala, XP_047284465.1:p.Pro157Ala, XP_047284474.1:p.Pro157Ala, XP_047284472.1:p.Pro165Ala, XP_047284484.1:p.Pro108Ala, XP_047284476.1:p.Pro157Ala, XP_047284478.1:p.Pro157Ala, XP_047284480.1:p.Pro165Ala, XP_047284489.1:p.Pro108Ala, XP_047284482.1:p.Pro157Ala

      3.

      rs1490047425 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C,T [Show Flanks]
        Chromosome:
        12:57295500 (GRCh38)
        12:57689283 (GRCh37)
        Canonical SPDI:
        NC_000012.12:57295499:G:C,NC_000012.12:57295499:G:T
        Gene:
        R3HDM2 (Varview)
        Functional Consequence:
        5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.000013/2 (GnomAD_exomes)
        HGVS:
        NC_000012.12:g.57295500G>C, NC_000012.12:g.57295500G>T, NC_000012.11:g.57689283G>C, NC_000012.11:g.57689283G>T, NM_014925.5:c.709C>G, NM_014925.5:c.709C>A, NM_014925.4:c.709C>G, NM_014925.4:c.709C>A, NM_014925.3:c.709C>G, NM_014925.3:c.709C>A, NM_001351207.2:c.733C>G, NM_001351207.2:c.733C>A, NM_001351207.1:c.733C>G, NM_001351207.1:c.733C>A, NM_001351208.2:c.709C>G, NM_001351208.2:c.709C>A, NM_001351208.1:c.709C>G, NM_001351208.1:c.709C>A, NM_001351204.2:c.709C>G, NM_001351204.2:c.709C>A, NM_001351204.1:c.709C>G, NM_001351204.1:c.709C>A, NM_001351206.2:c.709C>G, NM_001351206.2:c.709C>A, NM_001351206.1:c.709C>G, NM_001351206.1:c.709C>A, NM_001330121.2:c.709C>G, NM_001330121.2:c.709C>A, NM_001330121.1:c.709C>G, NM_001330121.1:c.709C>A, NM_001330122.2:c.709C>G, NM_001330122.2:c.709C>A, NM_001330122.1:c.709C>G, NM_001330122.1:c.709C>A, NM_001351205.2:c.709C>G, NM_001351205.2:c.709C>A, NM_001351205.1:c.709C>G, NM_001351205.1:c.709C>A, NM_001351209.2:c.709C>G, NM_001351209.2:c.709C>A, NM_001351209.1:c.709C>G, NM_001351209.1:c.709C>A, NM_001351211.2:c.733C>G, NM_001351211.2:c.733C>A, NM_001351211.1:c.733C>G, NM_001351211.1:c.733C>A, NM_001351212.2:c.709C>G, NM_001351212.2:c.709C>A, NM_001351212.1:c.709C>G, NM_001351212.1:c.709C>A, NM_001351215.2:c.709C>G, NM_001351215.2:c.709C>A, NM_001351215.1:c.709C>G, NM_001351215.1:c.709C>A, NM_001351216.2:c.649C>G, NM_001351216.2:c.649C>A, NM_001351216.1:c.649C>G, NM_001351216.1:c.649C>A, NM_001351213.2:c.709C>G, NM_001351213.2:c.709C>A, NM_001351213.1:c.709C>G, NM_001351213.1:c.709C>A, NM_001330123.2:c.733C>G, NM_001330123.2:c.733C>A, NM_001330123.1:c.733C>G, NM_001330123.1:c.733C>A, NM_001351218.2:c.709C>G, NM_001351218.2:c.709C>A, NM_001351218.1:c.709C>G, NM_001351218.1:c.709C>A, NM_001351214.2:c.709C>G, NM_001351214.2:c.709C>A, NM_001351214.1:c.709C>G, NM_001351214.1:c.709C>A, NM_001351217.2:c.709C>G, NM_001351217.2:c.709C>A, NM_001351217.1:c.709C>G, NM_001351217.1:c.709C>A, XM_024448885.2:c.796C>G, XM_024448885.2:c.796C>A, XM_024448885.1:c.649C>G, XM_024448885.1:c.649C>A, XM_017019009.2:c.880C>G, XM_017019009.2:c.880C>A, XM_017019009.1:c.733C>G, XM_017019009.1:c.733C>A, XM_017019012.2:c.820C>G, XM_017019012.2:c.820C>A, XM_017019012.1:c.673C>G, XM_017019012.1:c.673C>A, XM_017019020.2:c.820C>G, XM_017019020.2:c.820C>A, XM_017019020.1:c.673C>G, XM_017019020.1:c.673C>A, XM_047428507.1:c.829C>G, XM_047428507.1:c.829C>A, XM_047428513.1:c.733C>G, XM_047428513.1:c.733C>A, XM_047428510.1:c.733C>G, XM_047428510.1:c.733C>A, XM_047428514.1:c.733C>G, XM_047428514.1:c.733C>A, XM_047428521.1:c.709C>G, XM_047428521.1:c.709C>A, XM_047428517.1:c.709C>G, XM_047428517.1:c.709C>A, XM_047428523.1:c.733C>G, XM_047428523.1:c.733C>A, XM_047428512.1:c.733C>G, XM_047428512.1:c.733C>A, XM_047428519.1:c.733C>G, XM_047428519.1:c.733C>A, XM_047428525.1:c.709C>G, XM_047428525.1:c.709C>A, NM_001394031.1:c.709C>G, NM_001394031.1:c.709C>A, XM_047428530.1:c.550C>G, XM_047428530.1:c.550C>A, XM_047428527.1:c.733C>G, XM_047428527.1:c.733C>A, XM_047428532.1:c.649C>G, XM_047428532.1:c.649C>A, XM_047428506.1:c.880C>G, XM_047428506.1:c.880C>A, XM_047428529.1:c.709C>G, XM_047428529.1:c.709C>A, XM_047428515.1:c.733C>G, XM_047428515.1:c.733C>A, XM_047428511.1:c.733C>G, XM_047428511.1:c.733C>A, XM_047428534.1:c.649C>G, XM_047428534.1:c.649C>A, XM_047428508.1:c.880C>G, XM_047428508.1:c.880C>A, XM_047428509.1:c.856C>G, XM_047428509.1:c.856C>A, XM_047428518.1:c.856C>G, XM_047428518.1:c.856C>A, XM_047428516.1:c.880C>G, XM_047428516.1:c.880C>A, XM_047428528.1:c.709C>G, XM_047428528.1:c.709C>A, XM_047428520.1:c.856C>G, XM_047428520.1:c.856C>A, XM_047428522.1:c.796C>G, XM_047428522.1:c.796C>A, XM_047428524.1:c.880C>G, XM_047428524.1:c.880C>A, XM_047428533.1:c.709C>G, XM_047428533.1:c.709C>A, XM_047428526.1:c.856C>G, XM_047428526.1:c.856C>A, XM_047428535.1:c.-25C>G, XM_047428535.1:c.-25C>A, NP_055740.3:p.Gln237Glu, NP_055740.3:p.Gln237Lys, NP_001338136.1:p.Gln245Glu, NP_001338136.1:p.Gln245Lys, NP_001338137.1:p.Gln237Glu, NP_001338137.1:p.Gln237Lys, NP_001338133.1:p.Gln237Glu, NP_001338133.1:p.Gln237Lys, NP_001338135.1:p.Gln237Glu, NP_001338135.1:p.Gln237Lys, NP_001317050.1:p.Gln237Glu, NP_001317050.1:p.Gln237Lys, NP_001317051.1:p.Gln237Glu, NP_001317051.1:p.Gln237Lys, NP_001338134.1:p.Gln237Glu, NP_001338134.1:p.Gln237Lys, NP_001338138.1:p.Gln237Glu, NP_001338138.1:p.Gln237Lys, NP_001338140.1:p.Gln245Glu, NP_001338140.1:p.Gln245Lys, NP_001338141.1:p.Gln237Glu, NP_001338141.1:p.Gln237Lys, NP_001338144.1:p.Gln237Glu, NP_001338144.1:p.Gln237Lys, NP_001338145.1:p.Gln217Glu, NP_001338145.1:p.Gln217Lys, NP_001338142.1:p.Gln237Glu, NP_001338142.1:p.Gln237Lys, NP_001317052.1:p.Gln245Glu, NP_001317052.1:p.Gln245Lys, NP_001338147.1:p.Gln237Glu, NP_001338147.1:p.Gln237Lys, NP_001338143.1:p.Gln237Glu, NP_001338143.1:p.Gln237Lys, NP_001338146.1:p.Gln237Glu, NP_001338146.1:p.Gln237Lys, XP_024304653.2:p.Gln266Glu, XP_024304653.2:p.Gln266Lys, XP_016874498.2:p.Gln294Glu, XP_016874498.2:p.Gln294Lys, XP_016874501.2:p.Gln274Glu, XP_016874501.2:p.Gln274Lys, XP_016874509.2:p.Gln274Glu, XP_016874509.2:p.Gln274Lys, XP_047284463.1:p.Gln277Glu, XP_047284463.1:p.Gln277Lys, XP_047284469.1:p.Gln245Glu, XP_047284469.1:p.Gln245Lys, XP_047284466.1:p.Gln245Glu, XP_047284466.1:p.Gln245Lys, XP_047284470.1:p.Gln245Glu, XP_047284470.1:p.Gln245Lys, XP_047284477.1:p.Gln237Glu, XP_047284477.1:p.Gln237Lys, XP_047284473.1:p.Gln237Glu, XP_047284473.1:p.Gln237Lys, XP_047284479.1:p.Gln245Glu, XP_047284479.1:p.Gln245Lys, XP_047284468.1:p.Gln245Glu, XP_047284468.1:p.Gln245Lys, XP_047284475.1:p.Gln245Glu, XP_047284475.1:p.Gln245Lys, XP_047284481.1:p.Gln237Glu, XP_047284481.1:p.Gln237Lys, NP_001380960.1:p.Gln237Glu, NP_001380960.1:p.Gln237Lys, XP_047284486.1:p.Gln184Glu, XP_047284486.1:p.Gln184Lys, XP_047284483.1:p.Gln245Glu, XP_047284483.1:p.Gln245Lys, XP_047284488.1:p.Gln217Glu, XP_047284488.1:p.Gln217Lys, XP_047284462.1:p.Gln294Glu, XP_047284462.1:p.Gln294Lys, XP_047284485.1:p.Gln237Glu, XP_047284485.1:p.Gln237Lys, XP_047284471.1:p.Gln245Glu, XP_047284471.1:p.Gln245Lys, XP_047284467.1:p.Gln245Glu, XP_047284467.1:p.Gln245Lys, XP_047284490.1:p.Gln217Glu, XP_047284490.1:p.Gln217Lys, XP_047284464.1:p.Gln294Glu, XP_047284464.1:p.Gln294Lys, XP_047284465.1:p.Gln286Glu, XP_047284465.1:p.Gln286Lys, XP_047284474.1:p.Gln286Glu, XP_047284474.1:p.Gln286Lys, XP_047284472.1:p.Gln294Glu, XP_047284472.1:p.Gln294Lys, XP_047284484.1:p.Gln237Glu, XP_047284484.1:p.Gln237Lys, XP_047284476.1:p.Gln286Glu, XP_047284476.1:p.Gln286Lys, XP_047284478.1:p.Gln266Glu, XP_047284478.1:p.Gln266Lys, XP_047284480.1:p.Gln294Glu, XP_047284480.1:p.Gln294Lys, XP_047284489.1:p.Gln237Glu, XP_047284489.1:p.Gln237Lys, XP_047284482.1:p.Gln286Glu, XP_047284482.1:p.Gln286Lys

        4.

        rs1489393756 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          12:57254914 (GRCh38)
          12:57648697 (GRCh37)
          Canonical SPDI:
          NC_000012.12:57254913:G:A
          Gene:
          R3HDM2 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          HGVS:
          NC_000012.12:g.57254914G>A, NC_000012.11:g.57648697G>A, NG_033835.1:g.1280C>T, NM_014925.5:c.2790C>T, NM_014925.4:c.2790C>T, NM_014925.3:c.2790C>T, NM_001351207.2:c.2958C>T, NM_001351207.1:c.2958C>T, NM_001351208.2:c.2934C>T, NM_001351208.1:c.2934C>T, NM_001351204.2:c.2988C>T, NM_001351204.1:c.2988C>T, NM_001351206.2:c.2988C>T, NM_001351206.1:c.2988C>T, NM_001330121.2:c.2892C>T, NM_001330121.1:c.2892C>T, NM_001330122.2:c.2892C>T, NM_001330122.1:c.2892C>T, NM_001351205.2:c.2988C>T, NM_001351205.1:c.2988C>T, NM_001351209.2:c.2886C>T, NM_001351209.1:c.2886C>T, NM_001351211.2:c.2856C>T, NM_001351211.1:c.2856C>T, NM_001351212.2:c.2838C>T, NM_001351212.1:c.2838C>T, NM_001351215.2:c.2838C>T, NM_001351215.1:c.2838C>T, NM_001351216.2:c.2826C>T, NM_001351216.1:c.2826C>T, NM_001351213.2:c.2838C>T, NM_001351213.1:c.2838C>T, NM_001330123.2:c.2760C>T, NM_001330123.1:c.2760C>T, NM_001351218.2:c.2736C>T, NM_001351218.1:c.2736C>T, NM_001351214.2:c.2838C>T, NM_001351214.1:c.2838C>T, NM_001351217.2:c.2736C>T, NM_001351217.1:c.2736C>T, XM_024448885.2:c.2973C>T, XM_024448885.1:c.2826C>T, XM_017019009.2:c.2961C>T, XM_017019009.1:c.2814C>T, XM_017019012.2:c.2943C>T, XM_017019012.1:c.2796C>T, XM_017019020.2:c.2847C>T, XM_017019020.1:c.2700C>T, XM_047428507.1:c.3108C>T, XM_047428513.1:c.3012C>T, XM_047428510.1:c.3012C>T, XM_047428514.1:c.3012C>T, XM_047428521.1:c.2934C>T, XM_047428517.1:c.2988C>T, XM_047428523.1:c.2910C>T, XM_047428512.1:c.3012C>T, XM_047428519.1:c.2958C>T, XM_047428525.1:c.2886C>T, NM_001394031.1:c.2832C>T, XM_047428530.1:c.2829C>T, XM_047428527.1:c.2856C>T, XM_047428532.1:c.2772C>T, XM_047428506.1:c.3159C>T, XM_047428529.1:c.2832C>T, XM_047428515.1:c.3012C>T, XM_047428511.1:c.3012C>T, XM_047428534.1:c.2676C>T, XM_047428508.1:c.3057C>T, XM_047428509.1:c.3033C>T, XM_047428518.1:c.2979C>T, XM_047428516.1:c.3003C>T, XM_047428528.1:c.2832C>T, XM_047428520.1:c.2937C>T, XM_047428522.1:c.2919C>T, XM_047428524.1:c.2907C>T, XM_047428533.1:c.2736C>T, XM_047428526.1:c.2883C>T, XM_047428535.1:c.2073C>T, XM_047428536.1:c.1773C>T

          5.

          rs1484700453 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,T [Show Flanks]
            Chromosome:
            12:57256505 (GRCh38)
            12:57650288 (GRCh37)
            Canonical SPDI:
            NC_000012.12:57256504:C:A,NC_000012.12:57256504:C:T
            Gene:
            R3HDM2 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            T=0.000007/1 (GnomAD)
            HGVS:
            NC_000012.12:g.57256505C>A, NC_000012.12:g.57256505C>T, NC_000012.11:g.57650288C>A, NC_000012.11:g.57650288C>T, NM_014925.5:c.2414G>T, NM_014925.5:c.2414G>A, NM_014925.4:c.2414G>T, NM_014925.4:c.2414G>A, NM_014925.3:c.2414G>T, NM_014925.3:c.2414G>A, NM_001351207.2:c.2582G>T, NM_001351207.2:c.2582G>A, NM_001351207.1:c.2582G>T, NM_001351207.1:c.2582G>A, NM_001351208.2:c.2558G>T, NM_001351208.2:c.2558G>A, NM_001351208.1:c.2558G>T, NM_001351208.1:c.2558G>A, NM_001351204.2:c.2612G>T, NM_001351204.2:c.2612G>A, NM_001351204.1:c.2612G>T, NM_001351204.1:c.2612G>A, NM_001351206.2:c.2612G>T, NM_001351206.2:c.2612G>A, NM_001351206.1:c.2612G>T, NM_001351206.1:c.2612G>A, NM_001330121.2:c.2516G>T, NM_001330121.2:c.2516G>A, NM_001330121.1:c.2516G>T, NM_001330121.1:c.2516G>A, NM_001330122.2:c.2516G>T, NM_001330122.2:c.2516G>A, NM_001330122.1:c.2516G>T, NM_001330122.1:c.2516G>A, NM_001351205.2:c.2612G>T, NM_001351205.2:c.2612G>A, NM_001351205.1:c.2612G>T, NM_001351205.1:c.2612G>A, NM_001351209.2:c.2510G>T, NM_001351209.2:c.2510G>A, NM_001351209.1:c.2510G>T, NM_001351209.1:c.2510G>A, NM_001351211.2:c.2480G>T, NM_001351211.2:c.2480G>A, NM_001351211.1:c.2480G>T, NM_001351211.1:c.2480G>A, NM_001351212.2:c.2462G>T, NM_001351212.2:c.2462G>A, NM_001351212.1:c.2462G>T, NM_001351212.1:c.2462G>A, NM_001351215.2:c.2462G>T, NM_001351215.2:c.2462G>A, NM_001351215.1:c.2462G>T, NM_001351215.1:c.2462G>A, NM_001351216.2:c.2450G>T, NM_001351216.2:c.2450G>A, NM_001351216.1:c.2450G>T, NM_001351216.1:c.2450G>A, NM_001351213.2:c.2462G>T, NM_001351213.2:c.2462G>A, NM_001351213.1:c.2462G>T, NM_001351213.1:c.2462G>A, NM_001330123.2:c.2384G>T, NM_001330123.2:c.2384G>A, NM_001330123.1:c.2384G>T, NM_001330123.1:c.2384G>A, NM_001351218.2:c.2360G>T, NM_001351218.2:c.2360G>A, NM_001351218.1:c.2360G>T, NM_001351218.1:c.2360G>A, NM_001351214.2:c.2462G>T, NM_001351214.2:c.2462G>A, NM_001351214.1:c.2462G>T, NM_001351214.1:c.2462G>A, NM_001351217.2:c.2360G>T, NM_001351217.2:c.2360G>A, NM_001351217.1:c.2360G>T, NM_001351217.1:c.2360G>A, XM_024448885.2:c.2597G>T, XM_024448885.2:c.2597G>A, XM_024448885.1:c.2450G>T, XM_024448885.1:c.2450G>A, XM_017019009.2:c.2585G>T, XM_017019009.2:c.2585G>A, XM_017019009.1:c.2438G>T, XM_017019009.1:c.2438G>A, XM_017019012.2:c.2567G>T, XM_017019012.2:c.2567G>A, XM_017019012.1:c.2420G>T, XM_017019012.1:c.2420G>A, XM_017019020.2:c.2471G>T, XM_017019020.2:c.2471G>A, XM_017019020.1:c.2324G>T, XM_017019020.1:c.2324G>A, XM_047428507.1:c.2732G>T, XM_047428507.1:c.2732G>A, XM_047428513.1:c.2636G>T, XM_047428513.1:c.2636G>A, XM_047428510.1:c.2636G>T, XM_047428510.1:c.2636G>A, XM_047428514.1:c.2636G>T, XM_047428514.1:c.2636G>A, XM_047428521.1:c.2558G>T, XM_047428521.1:c.2558G>A, XM_047428517.1:c.2612G>T, XM_047428517.1:c.2612G>A, XM_047428523.1:c.2534G>T, XM_047428523.1:c.2534G>A, XM_047428512.1:c.2636G>T, XM_047428512.1:c.2636G>A, XM_047428519.1:c.2582G>T, XM_047428519.1:c.2582G>A, XM_047428525.1:c.2510G>T, XM_047428525.1:c.2510G>A, NM_001394031.1:c.2456G>T, NM_001394031.1:c.2456G>A, XM_047428530.1:c.2453G>T, XM_047428530.1:c.2453G>A, XM_047428527.1:c.2480G>T, XM_047428527.1:c.2480G>A, XM_047428532.1:c.2396G>T, XM_047428532.1:c.2396G>A, XM_047428506.1:c.2783G>T, XM_047428506.1:c.2783G>A, XM_047428529.1:c.2456G>T, XM_047428529.1:c.2456G>A, XM_047428515.1:c.2636G>T, XM_047428515.1:c.2636G>A, XM_047428511.1:c.2636G>T, XM_047428511.1:c.2636G>A, XM_047428534.1:c.2300G>T, XM_047428534.1:c.2300G>A, XM_047428508.1:c.2681G>T, XM_047428508.1:c.2681G>A, XM_047428509.1:c.2657G>T, XM_047428509.1:c.2657G>A, XM_047428518.1:c.2603G>T, XM_047428518.1:c.2603G>A, XM_047428516.1:c.2627G>T, XM_047428516.1:c.2627G>A, XM_047428528.1:c.2456G>T, XM_047428528.1:c.2456G>A, XM_047428520.1:c.2561G>T, XM_047428520.1:c.2561G>A, XM_047428522.1:c.2543G>T, XM_047428522.1:c.2543G>A, XM_047428524.1:c.2531G>T, XM_047428524.1:c.2531G>A, XM_047428533.1:c.2360G>T, XM_047428533.1:c.2360G>A, XM_047428526.1:c.2507G>T, XM_047428526.1:c.2507G>A, XM_047428535.1:c.1697G>T, XM_047428535.1:c.1697G>A, XM_047428536.1:c.1397G>T, XM_047428536.1:c.1397G>A, NP_055740.3:p.Gly805Val, NP_055740.3:p.Gly805Glu, NP_001338136.1:p.Gly861Val, NP_001338136.1:p.Gly861Glu, NP_001338137.1:p.Gly853Val, NP_001338137.1:p.Gly853Glu, NP_001338133.1:p.Gly871Val, NP_001338133.1:p.Gly871Glu, NP_001338135.1:p.Gly871Val, NP_001338135.1:p.Gly871Glu, NP_001317050.1:p.Gly839Val, NP_001317050.1:p.Gly839Glu, NP_001317051.1:p.Gly839Val, NP_001317051.1:p.Gly839Glu, NP_001338134.1:p.Gly871Val, NP_001338134.1:p.Gly871Glu, NP_001338138.1:p.Gly837Val, NP_001338138.1:p.Gly837Glu, NP_001338140.1:p.Gly827Val, NP_001338140.1:p.Gly827Glu, NP_001338141.1:p.Gly821Val, NP_001338141.1:p.Gly821Glu, NP_001338144.1:p.Gly821Val, NP_001338144.1:p.Gly821Glu, NP_001338145.1:p.Gly817Val, NP_001338145.1:p.Gly817Glu, NP_001338142.1:p.Gly821Val, NP_001338142.1:p.Gly821Glu, NP_001317052.1:p.Gly795Val, NP_001317052.1:p.Gly795Glu, NP_001338147.1:p.Gly787Val, NP_001338147.1:p.Gly787Glu, NP_001338143.1:p.Gly821Val, NP_001338143.1:p.Gly821Glu, NP_001338146.1:p.Gly787Val, NP_001338146.1:p.Gly787Glu, XP_024304653.2:p.Gly866Val, XP_024304653.2:p.Gly866Glu, XP_016874498.2:p.Gly862Val, XP_016874498.2:p.Gly862Glu, XP_016874501.2:p.Gly856Val, XP_016874501.2:p.Gly856Glu, XP_016874509.2:p.Gly824Val, XP_016874509.2:p.Gly824Glu, XP_047284463.1:p.Gly911Val, XP_047284463.1:p.Gly911Glu, XP_047284469.1:p.Gly879Val, XP_047284469.1:p.Gly879Glu, XP_047284466.1:p.Gly879Val, XP_047284466.1:p.Gly879Glu, XP_047284470.1:p.Gly879Val, XP_047284470.1:p.Gly879Glu, XP_047284477.1:p.Gly853Val, XP_047284477.1:p.Gly853Glu, XP_047284473.1:p.Gly871Val, XP_047284473.1:p.Gly871Glu, XP_047284479.1:p.Gly845Val, XP_047284479.1:p.Gly845Glu, XP_047284468.1:p.Gly879Val, XP_047284468.1:p.Gly879Glu, XP_047284475.1:p.Gly861Val, XP_047284475.1:p.Gly861Glu, XP_047284481.1:p.Gly837Val, XP_047284481.1:p.Gly837Glu, NP_001380960.1:p.Gly819Val, NP_001380960.1:p.Gly819Glu, XP_047284486.1:p.Gly818Val, XP_047284486.1:p.Gly818Glu, XP_047284483.1:p.Gly827Val, XP_047284483.1:p.Gly827Glu, XP_047284488.1:p.Gly799Val, XP_047284488.1:p.Gly799Glu, XP_047284462.1:p.Gly928Val, XP_047284462.1:p.Gly928Glu, XP_047284485.1:p.Gly819Val, XP_047284485.1:p.Gly819Glu, XP_047284471.1:p.Gly879Val, XP_047284471.1:p.Gly879Glu, XP_047284467.1:p.Gly879Val, XP_047284467.1:p.Gly879Glu, XP_047284490.1:p.Gly767Val, XP_047284490.1:p.Gly767Glu, XP_047284464.1:p.Gly894Val, XP_047284464.1:p.Gly894Glu, XP_047284465.1:p.Gly886Val, XP_047284465.1:p.Gly886Glu, XP_047284474.1:p.Gly868Val, XP_047284474.1:p.Gly868Glu, XP_047284472.1:p.Gly876Val, XP_047284472.1:p.Gly876Glu, XP_047284484.1:p.Gly819Val, XP_047284484.1:p.Gly819Glu, XP_047284476.1:p.Gly854Val, XP_047284476.1:p.Gly854Glu, XP_047284478.1:p.Gly848Val, XP_047284478.1:p.Gly848Glu, XP_047284480.1:p.Gly844Val, XP_047284480.1:p.Gly844Glu, XP_047284489.1:p.Gly787Val, XP_047284489.1:p.Gly787Glu, XP_047284482.1:p.Gly836Val, XP_047284482.1:p.Gly836Glu, XP_047284491.1:p.Gly566Val, XP_047284491.1:p.Gly566Glu, XP_047284492.1:p.Gly466Val, XP_047284492.1:p.Gly466Glu

            6.

            rs1483543615 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              G>- [Show Flanks]
              Chromosome:
              12:57280416 (GRCh38)
              12:57674199 (GRCh37)
              Canonical SPDI:
              NC_000012.12:57280415:GG:G
              Gene:
              R3HDM2 (Varview)
              Functional Consequence:
              frameshift_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              GG=0./0 (ALFA)
              -=0.000004/1 (TOPMED)
              -=0.000007/1 (GnomAD)
              HGVS:
              NC_000012.12:g.57280417del, NC_000012.11:g.57674200del, NM_014925.5:c.1244del, NM_014925.4:c.1244del, NM_014925.3:c.1244del, NM_001351207.2:c.1310del, NM_001351207.1:c.1310del, NM_001351208.2:c.1286del, NM_001351208.1:c.1286del, NM_001351204.2:c.1340del, NM_001351204.1:c.1340del, NM_001351206.2:c.1340del, NM_001351206.1:c.1340del, NM_001330121.2:c.1244del, NM_001330121.1:c.1244del, NM_001330122.2:c.1244del, NM_001330122.1:c.1244del, NM_001351205.2:c.1340del, NM_001351205.1:c.1340del, NM_001351209.2:c.1340del, NM_001351209.1:c.1340del, NM_001351211.2:c.1310del, NM_001351211.1:c.1310del, NM_001351212.2:c.1190del, NM_001351212.1:c.1190del, NM_001351215.2:c.1190del, NM_001351215.1:c.1190del, NM_001351216.2:c.1280del, NM_001351216.1:c.1280del, NM_001351213.2:c.1190del, NM_001351213.1:c.1190del, NM_001330123.2:c.1214del, NM_001330123.1:c.1214del, NM_001351218.2:c.1190del, NM_001351218.1:c.1190del, NM_001351214.2:c.1190del, NM_001351214.1:c.1190del, NM_001351217.2:c.1190del, NM_001351217.1:c.1190del, XM_024448885.2:c.1427del, XM_024448885.1:c.1280del, XM_017019009.2:c.1415del, XM_017019009.1:c.1268del, XM_017019012.2:c.1397del, XM_017019012.1:c.1250del, XM_017019020.2:c.1301del, XM_017019020.1:c.1154del, XM_047428507.1:c.1460del, XM_047428513.1:c.1364del, XM_047428510.1:c.1364del, XM_047428514.1:c.1364del, XM_047428521.1:c.1286del, XM_047428517.1:c.1340del, XM_047428523.1:c.1364del, XM_047428512.1:c.1364del, XM_047428519.1:c.1310del, XM_047428525.1:c.1340del, NM_001394031.1:c.1286del, XM_047428530.1:c.1181del, XM_047428527.1:c.1310del, XM_047428532.1:c.1226del, XM_047428506.1:c.1511del, XM_047428529.1:c.1286del, XM_047428515.1:c.1364del, XM_047428511.1:c.1364del, XM_047428534.1:c.1130del, XM_047428508.1:c.1511del, XM_047428509.1:c.1487del, XM_047428518.1:c.1433del, XM_047428516.1:c.1457del, XM_047428528.1:c.1286del, XM_047428520.1:c.1391del, XM_047428522.1:c.1373del, XM_047428524.1:c.1361del, XM_047428533.1:c.1190del, XM_047428526.1:c.1337del, XM_047428535.1:c.425del, XM_047428536.1:c.227del, NP_055740.3:p.Pro415fs, NP_001338136.1:p.Pro437fs, NP_001338137.1:p.Pro429fs, NP_001338133.1:p.Pro447fs, NP_001338135.1:p.Pro447fs, NP_001317050.1:p.Pro415fs, NP_001317051.1:p.Pro415fs, NP_001338134.1:p.Pro447fs, NP_001338138.1:p.Pro447fs, NP_001338140.1:p.Pro437fs, NP_001338141.1:p.Pro397fs, NP_001338144.1:p.Pro397fs, NP_001338145.1:p.Pro427fs, NP_001338142.1:p.Pro397fs, NP_001317052.1:p.Pro405fs, NP_001338147.1:p.Pro397fs, NP_001338143.1:p.Pro397fs, NP_001338146.1:p.Pro397fs, XP_024304653.2:p.Pro476fs, XP_016874498.2:p.Pro472fs, XP_016874501.2:p.Pro466fs, XP_016874509.2:p.Pro434fs, XP_047284463.1:p.Pro487fs, XP_047284469.1:p.Pro455fs, XP_047284466.1:p.Pro455fs, XP_047284470.1:p.Pro455fs, XP_047284477.1:p.Pro429fs, XP_047284473.1:p.Pro447fs, XP_047284479.1:p.Pro455fs, XP_047284468.1:p.Pro455fs, XP_047284475.1:p.Pro437fs, XP_047284481.1:p.Pro447fs, NP_001380960.1:p.Pro429fs, XP_047284486.1:p.Pro394fs, XP_047284483.1:p.Pro437fs, XP_047284488.1:p.Pro409fs, XP_047284462.1:p.Pro504fs, XP_047284485.1:p.Pro429fs, XP_047284471.1:p.Pro455fs, XP_047284467.1:p.Pro455fs, XP_047284490.1:p.Pro377fs, XP_047284464.1:p.Pro504fs, XP_047284465.1:p.Pro496fs, XP_047284474.1:p.Pro478fs, XP_047284472.1:p.Pro486fs, XP_047284484.1:p.Pro429fs, XP_047284476.1:p.Pro464fs, XP_047284478.1:p.Pro458fs, XP_047284480.1:p.Pro454fs, XP_047284489.1:p.Pro397fs, XP_047284482.1:p.Pro446fs, XP_047284491.1:p.Pro142fs, XP_047284492.1:p.Pro76fs

              7.

              rs1482804280 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                12:57269940 (GRCh38)
                12:57663723 (GRCh37)
                Canonical SPDI:
                NC_000012.12:57269939:T:C
                Gene:
                R3HDM2 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by cluster
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                C=0.000035/1 (TOMMO)
                HGVS:
                NC_000012.12:g.57269940T>C, NC_000012.11:g.57663723T>C, NM_014925.5:c.1357A>G, NM_014925.4:c.1357A>G, NM_014925.3:c.1357A>G, NM_001351207.2:c.1525A>G, NM_001351207.1:c.1525A>G, NM_001351208.2:c.1501A>G, NM_001351208.1:c.1501A>G, NM_001351204.2:c.1555A>G, NM_001351204.1:c.1555A>G, NM_001351206.2:c.1555A>G, NM_001351206.1:c.1555A>G, NM_001330121.2:c.1459A>G, NM_001330121.1:c.1459A>G, NM_001330122.2:c.1459A>G, NM_001330122.1:c.1459A>G, NM_001351205.2:c.1555A>G, NM_001351205.1:c.1555A>G, NM_001351209.2:c.1453A>G, NM_001351209.1:c.1453A>G, NM_001351211.2:c.1423A>G, NM_001351211.1:c.1423A>G, NM_001351212.2:c.1405A>G, NM_001351212.1:c.1405A>G, NM_001351215.2:c.1405A>G, NM_001351215.1:c.1405A>G, NM_001351216.2:c.1393A>G, NM_001351216.1:c.1393A>G, NM_001351213.2:c.1405A>G, NM_001351213.1:c.1405A>G, NM_001330123.2:c.1327A>G, NM_001330123.1:c.1327A>G, NM_001351218.2:c.1303A>G, NM_001351218.1:c.1303A>G, NM_001351214.2:c.1405A>G, NM_001351214.1:c.1405A>G, NM_001351217.2:c.1303A>G, NM_001351217.1:c.1303A>G, XM_024448885.2:c.1540A>G, XM_024448885.1:c.1393A>G, XM_017019009.2:c.1528A>G, XM_017019009.1:c.1381A>G, XM_017019012.2:c.1510A>G, XM_017019012.1:c.1363A>G, XM_017019020.2:c.1414A>G, XM_017019020.1:c.1267A>G, XM_047428507.1:c.1675A>G, XM_047428513.1:c.1579A>G, XM_047428510.1:c.1579A>G, XM_047428514.1:c.1579A>G, XM_047428521.1:c.1501A>G, XM_047428517.1:c.1555A>G, XM_047428523.1:c.1477A>G, XM_047428512.1:c.1579A>G, XM_047428519.1:c.1525A>G, XM_047428525.1:c.1453A>G, NM_001394031.1:c.1399A>G, XM_047428530.1:c.1396A>G, XM_047428527.1:c.1423A>G, XM_047428532.1:c.1339A>G, XM_047428506.1:c.1726A>G, XM_047428529.1:c.1399A>G, XM_047428515.1:c.1579A>G, XM_047428511.1:c.1579A>G, XM_047428534.1:c.1243A>G, XM_047428508.1:c.1624A>G, XM_047428509.1:c.1600A>G, XM_047428518.1:c.1546A>G, XM_047428516.1:c.1570A>G, XM_047428528.1:c.1399A>G, XM_047428520.1:c.1504A>G, XM_047428522.1:c.1486A>G, XM_047428524.1:c.1474A>G, XM_047428533.1:c.1303A>G, XM_047428526.1:c.1450A>G, XM_047428535.1:c.640A>G, XM_047428536.1:c.340A>G, NP_055740.3:p.Thr453Ala, NP_001338136.1:p.Thr509Ala, NP_001338137.1:p.Thr501Ala, NP_001338133.1:p.Thr519Ala, NP_001338135.1:p.Thr519Ala, NP_001317050.1:p.Thr487Ala, NP_001317051.1:p.Thr487Ala, NP_001338134.1:p.Thr519Ala, NP_001338138.1:p.Thr485Ala, NP_001338140.1:p.Thr475Ala, NP_001338141.1:p.Thr469Ala, NP_001338144.1:p.Thr469Ala, NP_001338145.1:p.Thr465Ala, NP_001338142.1:p.Thr469Ala, NP_001317052.1:p.Thr443Ala, NP_001338147.1:p.Thr435Ala, NP_001338143.1:p.Thr469Ala, NP_001338146.1:p.Thr435Ala, XP_024304653.2:p.Thr514Ala, XP_016874498.2:p.Thr510Ala, XP_016874501.2:p.Thr504Ala, XP_016874509.2:p.Thr472Ala, XP_047284463.1:p.Thr559Ala, XP_047284469.1:p.Thr527Ala, XP_047284466.1:p.Thr527Ala, XP_047284470.1:p.Thr527Ala, XP_047284477.1:p.Thr501Ala, XP_047284473.1:p.Thr519Ala, XP_047284479.1:p.Thr493Ala, XP_047284468.1:p.Thr527Ala, XP_047284475.1:p.Thr509Ala, XP_047284481.1:p.Thr485Ala, NP_001380960.1:p.Thr467Ala, XP_047284486.1:p.Thr466Ala, XP_047284483.1:p.Thr475Ala, XP_047284488.1:p.Thr447Ala, XP_047284462.1:p.Thr576Ala, XP_047284485.1:p.Thr467Ala, XP_047284471.1:p.Thr527Ala, XP_047284467.1:p.Thr527Ala, XP_047284490.1:p.Thr415Ala, XP_047284464.1:p.Thr542Ala, XP_047284465.1:p.Thr534Ala, XP_047284474.1:p.Thr516Ala, XP_047284472.1:p.Thr524Ala, XP_047284484.1:p.Thr467Ala, XP_047284476.1:p.Thr502Ala, XP_047284478.1:p.Thr496Ala, XP_047284480.1:p.Thr492Ala, XP_047284489.1:p.Thr435Ala, XP_047284482.1:p.Thr484Ala, XP_047284491.1:p.Thr214Ala, XP_047284492.1:p.Thr114Ala

                8.

                rs1481051181 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  12:57269843 (GRCh38)
                  12:57663626 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:57269842:G:A
                  Gene:
                  R3HDM2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000012.12:g.57269843G>A, NC_000012.11:g.57663626G>A, NM_014925.5:c.1454C>T, NM_014925.4:c.1454C>T, NM_014925.3:c.1454C>T, NM_001351207.2:c.1622C>T, NM_001351207.1:c.1622C>T, NM_001351208.2:c.1598C>T, NM_001351208.1:c.1598C>T, NM_001351204.2:c.1652C>T, NM_001351204.1:c.1652C>T, NM_001351206.2:c.1652C>T, NM_001351206.1:c.1652C>T, NM_001330121.2:c.1556C>T, NM_001330121.1:c.1556C>T, NM_001330122.2:c.1556C>T, NM_001330122.1:c.1556C>T, NM_001351205.2:c.1652C>T, NM_001351205.1:c.1652C>T, NM_001351209.2:c.1550C>T, NM_001351209.1:c.1550C>T, NM_001351211.2:c.1520C>T, NM_001351211.1:c.1520C>T, NM_001351212.2:c.1502C>T, NM_001351212.1:c.1502C>T, NM_001351215.2:c.1502C>T, NM_001351215.1:c.1502C>T, NM_001351216.2:c.1490C>T, NM_001351216.1:c.1490C>T, NM_001351213.2:c.1502C>T, NM_001351213.1:c.1502C>T, NM_001330123.2:c.1424C>T, NM_001330123.1:c.1424C>T, NM_001351218.2:c.1400C>T, NM_001351218.1:c.1400C>T, NM_001351214.2:c.1502C>T, NM_001351214.1:c.1502C>T, NM_001351217.2:c.1400C>T, NM_001351217.1:c.1400C>T, XM_024448885.2:c.1637C>T, XM_024448885.1:c.1490C>T, XM_017019009.2:c.1625C>T, XM_017019009.1:c.1478C>T, XM_017019012.2:c.1607C>T, XM_017019012.1:c.1460C>T, XM_017019020.2:c.1511C>T, XM_017019020.1:c.1364C>T, XM_047428507.1:c.1772C>T, XM_047428513.1:c.1676C>T, XM_047428510.1:c.1676C>T, XM_047428514.1:c.1676C>T, XM_047428521.1:c.1598C>T, XM_047428517.1:c.1652C>T, XM_047428523.1:c.1574C>T, XM_047428512.1:c.1676C>T, XM_047428519.1:c.1622C>T, XM_047428525.1:c.1550C>T, NM_001394031.1:c.1496C>T, XM_047428530.1:c.1493C>T, XM_047428527.1:c.1520C>T, XM_047428532.1:c.1436C>T, XM_047428506.1:c.1823C>T, XM_047428529.1:c.1496C>T, XM_047428515.1:c.1676C>T, XM_047428511.1:c.1676C>T, XM_047428534.1:c.1340C>T, XM_047428508.1:c.1721C>T, XM_047428509.1:c.1697C>T, XM_047428518.1:c.1643C>T, XM_047428516.1:c.1667C>T, XM_047428528.1:c.1496C>T, XM_047428520.1:c.1601C>T, XM_047428522.1:c.1583C>T, XM_047428524.1:c.1571C>T, XM_047428533.1:c.1400C>T, XM_047428526.1:c.1547C>T, XM_047428535.1:c.737C>T, XM_047428536.1:c.437C>T, NP_055740.3:p.Pro485Leu, NP_001338136.1:p.Pro541Leu, NP_001338137.1:p.Pro533Leu, NP_001338133.1:p.Pro551Leu, NP_001338135.1:p.Pro551Leu, NP_001317050.1:p.Pro519Leu, NP_001317051.1:p.Pro519Leu, NP_001338134.1:p.Pro551Leu, NP_001338138.1:p.Pro517Leu, NP_001338140.1:p.Pro507Leu, NP_001338141.1:p.Pro501Leu, NP_001338144.1:p.Pro501Leu, NP_001338145.1:p.Pro497Leu, NP_001338142.1:p.Pro501Leu, NP_001317052.1:p.Pro475Leu, NP_001338147.1:p.Pro467Leu, NP_001338143.1:p.Pro501Leu, NP_001338146.1:p.Pro467Leu, XP_024304653.2:p.Pro546Leu, XP_016874498.2:p.Pro542Leu, XP_016874501.2:p.Pro536Leu, XP_016874509.2:p.Pro504Leu, XP_047284463.1:p.Pro591Leu, XP_047284469.1:p.Pro559Leu, XP_047284466.1:p.Pro559Leu, XP_047284470.1:p.Pro559Leu, XP_047284477.1:p.Pro533Leu, XP_047284473.1:p.Pro551Leu, XP_047284479.1:p.Pro525Leu, XP_047284468.1:p.Pro559Leu, XP_047284475.1:p.Pro541Leu, XP_047284481.1:p.Pro517Leu, NP_001380960.1:p.Pro499Leu, XP_047284486.1:p.Pro498Leu, XP_047284483.1:p.Pro507Leu, XP_047284488.1:p.Pro479Leu, XP_047284462.1:p.Pro608Leu, XP_047284485.1:p.Pro499Leu, XP_047284471.1:p.Pro559Leu, XP_047284467.1:p.Pro559Leu, XP_047284490.1:p.Pro447Leu, XP_047284464.1:p.Pro574Leu, XP_047284465.1:p.Pro566Leu, XP_047284474.1:p.Pro548Leu, XP_047284472.1:p.Pro556Leu, XP_047284484.1:p.Pro499Leu, XP_047284476.1:p.Pro534Leu, XP_047284478.1:p.Pro528Leu, XP_047284480.1:p.Pro524Leu, XP_047284489.1:p.Pro467Leu, XP_047284482.1:p.Pro516Leu, XP_047284491.1:p.Pro246Leu, XP_047284492.1:p.Pro146Leu

                  9.

                  rs1480573234 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    12:57288883 (GRCh38)
                    12:57682666 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:57288882:G:A
                    Gene:
                    R3HDM2 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,intron_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000051/1 (ALFA)
                    A=0.000006/1 (GnomAD_exomes)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000012.12:g.57288883G>A, NC_000012.11:g.57682666G>A, NM_014925.5:c.870C>T, NM_014925.4:c.870C>T, NM_014925.3:c.870C>T, NM_001351204.2:c.966C>T, NM_001351204.1:c.966C>T, NM_001351206.2:c.966C>T, NM_001351206.1:c.966C>T, NM_001330121.2:c.870C>T, NM_001330121.1:c.870C>T, NM_001330122.2:c.870C>T, NM_001330122.1:c.870C>T, NM_001351205.2:c.966C>T, NM_001351205.1:c.966C>T, NM_001351209.2:c.966C>T, NM_001351209.1:c.966C>T, NM_001351216.2:c.906C>T, NM_001351216.1:c.906C>T, XM_024448885.2:c.1053C>T, XM_024448885.1:c.906C>T, XM_017019009.2:c.1041C>T, XM_017019009.1:c.894C>T, XM_047428507.1:c.1086C>T, XM_047428513.1:c.990C>T, XM_047428510.1:c.990C>T, XM_047428514.1:c.990C>T, XM_047428517.1:c.966C>T, XM_047428523.1:c.990C>T, XM_047428512.1:c.990C>T, XM_047428525.1:c.966C>T, XM_047428530.1:c.807C>T, XM_047428506.1:c.1137C>T, XM_047428515.1:c.990C>T, XM_047428511.1:c.990C>T, XM_047428508.1:c.1137C>T, XM_047428509.1:c.1113C>T, XM_047428520.1:c.1017C>T

                    10.

                    rs1479053977 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A,C [Show Flanks]
                      Chromosome:
                      12:57283872 (GRCh38)
                      12:57677655 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:57283871:T:A,NC_000012.12:57283871:T:C
                      Gene:
                      R3HDM2 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000012.12:g.57283872T>A, NC_000012.12:g.57283872T>C, NC_000012.11:g.57677655T>A, NC_000012.11:g.57677655T>C, NM_014925.5:c.1081A>T, NM_014925.5:c.1081A>G, NM_014925.4:c.1081A>T, NM_014925.4:c.1081A>G, NM_014925.3:c.1081A>T, NM_014925.3:c.1081A>G, NM_001351207.2:c.1147A>T, NM_001351207.2:c.1147A>G, NM_001351207.1:c.1147A>T, NM_001351207.1:c.1147A>G, NM_001351208.2:c.1123A>T, NM_001351208.2:c.1123A>G, NM_001351208.1:c.1123A>T, NM_001351208.1:c.1123A>G, NM_001351204.2:c.1177A>T, NM_001351204.2:c.1177A>G, NM_001351204.1:c.1177A>T, NM_001351204.1:c.1177A>G, NM_001351206.2:c.1177A>T, NM_001351206.2:c.1177A>G, NM_001351206.1:c.1177A>T, NM_001351206.1:c.1177A>G, NM_001330121.2:c.1081A>T, NM_001330121.2:c.1081A>G, NM_001330121.1:c.1081A>T, NM_001330121.1:c.1081A>G, NM_001330122.2:c.1081A>T, NM_001330122.2:c.1081A>G, NM_001330122.1:c.1081A>T, NM_001330122.1:c.1081A>G, NM_001351205.2:c.1177A>T, NM_001351205.2:c.1177A>G, NM_001351205.1:c.1177A>T, NM_001351205.1:c.1177A>G, NM_001351209.2:c.1177A>T, NM_001351209.2:c.1177A>G, NM_001351209.1:c.1177A>T, NM_001351209.1:c.1177A>G, NM_001351211.2:c.1147A>T, NM_001351211.2:c.1147A>G, NM_001351211.1:c.1147A>T, NM_001351211.1:c.1147A>G, NM_001351212.2:c.1027A>T, NM_001351212.2:c.1027A>G, NM_001351212.1:c.1027A>T, NM_001351212.1:c.1027A>G, NM_001351215.2:c.1027A>T, NM_001351215.2:c.1027A>G, NM_001351215.1:c.1027A>T, NM_001351215.1:c.1027A>G, NM_001351216.2:c.1117A>T, NM_001351216.2:c.1117A>G, NM_001351216.1:c.1117A>T, NM_001351216.1:c.1117A>G, NM_001351213.2:c.1027A>T, NM_001351213.2:c.1027A>G, NM_001351213.1:c.1027A>T, NM_001351213.1:c.1027A>G, NM_001330123.2:c.1051A>T, NM_001330123.2:c.1051A>G, NM_001330123.1:c.1051A>T, NM_001330123.1:c.1051A>G, NM_001351218.2:c.1027A>T, NM_001351218.2:c.1027A>G, NM_001351218.1:c.1027A>T, NM_001351218.1:c.1027A>G, NM_001351214.2:c.1027A>T, NM_001351214.2:c.1027A>G, NM_001351214.1:c.1027A>T, NM_001351214.1:c.1027A>G, NM_001351217.2:c.1027A>T, NM_001351217.2:c.1027A>G, NM_001351217.1:c.1027A>T, NM_001351217.1:c.1027A>G, XM_024448885.2:c.1264A>T, XM_024448885.2:c.1264A>G, XM_024448885.1:c.1117A>T, XM_024448885.1:c.1117A>G, XM_017019009.2:c.1252A>T, XM_017019009.2:c.1252A>G, XM_017019009.1:c.1105A>T, XM_017019009.1:c.1105A>G, XM_017019012.2:c.1234A>T, XM_017019012.2:c.1234A>G, XM_017019012.1:c.1087A>T, XM_017019012.1:c.1087A>G, XM_017019020.2:c.1138A>T, XM_017019020.2:c.1138A>G, XM_017019020.1:c.991A>T, XM_017019020.1:c.991A>G, XM_047428507.1:c.1297A>T, XM_047428507.1:c.1297A>G, XM_047428513.1:c.1201A>T, XM_047428513.1:c.1201A>G, XM_047428510.1:c.1201A>T, XM_047428510.1:c.1201A>G, XM_047428514.1:c.1201A>T, XM_047428514.1:c.1201A>G, XM_047428521.1:c.1123A>T, XM_047428521.1:c.1123A>G, XM_047428517.1:c.1177A>T, XM_047428517.1:c.1177A>G, XM_047428523.1:c.1201A>T, XM_047428523.1:c.1201A>G, XM_047428512.1:c.1201A>T, XM_047428512.1:c.1201A>G, XM_047428519.1:c.1147A>T, XM_047428519.1:c.1147A>G, XM_047428525.1:c.1177A>T, XM_047428525.1:c.1177A>G, NM_001394031.1:c.1123A>T, NM_001394031.1:c.1123A>G, XM_047428530.1:c.1018A>T, XM_047428530.1:c.1018A>G, XM_047428527.1:c.1147A>T, XM_047428527.1:c.1147A>G, XM_047428532.1:c.1063A>T, XM_047428532.1:c.1063A>G, XM_047428506.1:c.1348A>T, XM_047428506.1:c.1348A>G, XM_047428529.1:c.1123A>T, XM_047428529.1:c.1123A>G, XM_047428515.1:c.1201A>T, XM_047428515.1:c.1201A>G, XM_047428511.1:c.1201A>T, XM_047428511.1:c.1201A>G, XM_047428534.1:c.967A>T, XM_047428534.1:c.967A>G, XM_047428508.1:c.1348A>T, XM_047428508.1:c.1348A>G, XM_047428509.1:c.1324A>T, XM_047428509.1:c.1324A>G, XM_047428518.1:c.1270A>T, XM_047428518.1:c.1270A>G, XM_047428516.1:c.1294A>T, XM_047428516.1:c.1294A>G, XM_047428528.1:c.1123A>T, XM_047428528.1:c.1123A>G, XM_047428520.1:c.1228A>T, XM_047428520.1:c.1228A>G, XM_047428522.1:c.1210A>T, XM_047428522.1:c.1210A>G, XM_047428524.1:c.1198A>T, XM_047428524.1:c.1198A>G, XM_047428533.1:c.1027A>T, XM_047428533.1:c.1027A>G, XM_047428526.1:c.1174A>T, XM_047428526.1:c.1174A>G, XM_047428535.1:c.262A>T, XM_047428535.1:c.262A>G, XM_047428536.1:c.64A>T, XM_047428536.1:c.64A>G, NP_055740.3:p.Ser361Cys, NP_055740.3:p.Ser361Gly, NP_001338136.1:p.Ser383Cys, NP_001338136.1:p.Ser383Gly, NP_001338137.1:p.Ser375Cys, NP_001338137.1:p.Ser375Gly, NP_001338133.1:p.Ser393Cys, NP_001338133.1:p.Ser393Gly, NP_001338135.1:p.Ser393Cys, NP_001338135.1:p.Ser393Gly, NP_001317050.1:p.Ser361Cys, NP_001317050.1:p.Ser361Gly, NP_001317051.1:p.Ser361Cys, NP_001317051.1:p.Ser361Gly, NP_001338134.1:p.Ser393Cys, NP_001338134.1:p.Ser393Gly, NP_001338138.1:p.Ser393Cys, NP_001338138.1:p.Ser393Gly, NP_001338140.1:p.Ser383Cys, NP_001338140.1:p.Ser383Gly, NP_001338141.1:p.Ser343Cys, NP_001338141.1:p.Ser343Gly, NP_001338144.1:p.Ser343Cys, NP_001338144.1:p.Ser343Gly, NP_001338145.1:p.Ser373Cys, NP_001338145.1:p.Ser373Gly, NP_001338142.1:p.Ser343Cys, NP_001338142.1:p.Ser343Gly, NP_001317052.1:p.Ser351Cys, NP_001317052.1:p.Ser351Gly, NP_001338147.1:p.Ser343Cys, NP_001338147.1:p.Ser343Gly, NP_001338143.1:p.Ser343Cys, NP_001338143.1:p.Ser343Gly, NP_001338146.1:p.Ser343Cys, NP_001338146.1:p.Ser343Gly, XP_024304653.2:p.Ser422Cys, XP_024304653.2:p.Ser422Gly, XP_016874498.2:p.Ser418Cys, XP_016874498.2:p.Ser418Gly, XP_016874501.2:p.Ser412Cys, XP_016874501.2:p.Ser412Gly, XP_016874509.2:p.Ser380Cys, XP_016874509.2:p.Ser380Gly, XP_047284463.1:p.Ser433Cys, XP_047284463.1:p.Ser433Gly, XP_047284469.1:p.Ser401Cys, XP_047284469.1:p.Ser401Gly, XP_047284466.1:p.Ser401Cys, XP_047284466.1:p.Ser401Gly, XP_047284470.1:p.Ser401Cys, XP_047284470.1:p.Ser401Gly, XP_047284477.1:p.Ser375Cys, XP_047284477.1:p.Ser375Gly, XP_047284473.1:p.Ser393Cys, XP_047284473.1:p.Ser393Gly, XP_047284479.1:p.Ser401Cys, XP_047284479.1:p.Ser401Gly, XP_047284468.1:p.Ser401Cys, XP_047284468.1:p.Ser401Gly, XP_047284475.1:p.Ser383Cys, XP_047284475.1:p.Ser383Gly, XP_047284481.1:p.Ser393Cys, XP_047284481.1:p.Ser393Gly, NP_001380960.1:p.Ser375Cys, NP_001380960.1:p.Ser375Gly, XP_047284486.1:p.Ser340Cys, XP_047284486.1:p.Ser340Gly, XP_047284483.1:p.Ser383Cys, XP_047284483.1:p.Ser383Gly, XP_047284488.1:p.Ser355Cys, XP_047284488.1:p.Ser355Gly, XP_047284462.1:p.Ser450Cys, XP_047284462.1:p.Ser450Gly, XP_047284485.1:p.Ser375Cys, XP_047284485.1:p.Ser375Gly, XP_047284471.1:p.Ser401Cys, XP_047284471.1:p.Ser401Gly, XP_047284467.1:p.Ser401Cys, XP_047284467.1:p.Ser401Gly, XP_047284490.1:p.Ser323Cys, XP_047284490.1:p.Ser323Gly, XP_047284464.1:p.Ser450Cys, XP_047284464.1:p.Ser450Gly, XP_047284465.1:p.Ser442Cys, XP_047284465.1:p.Ser442Gly, XP_047284474.1:p.Ser424Cys, XP_047284474.1:p.Ser424Gly, XP_047284472.1:p.Ser432Cys, XP_047284472.1:p.Ser432Gly, XP_047284484.1:p.Ser375Cys, XP_047284484.1:p.Ser375Gly, XP_047284476.1:p.Ser410Cys, XP_047284476.1:p.Ser410Gly, XP_047284478.1:p.Ser404Cys, XP_047284478.1:p.Ser404Gly, XP_047284480.1:p.Ser400Cys, XP_047284480.1:p.Ser400Gly, XP_047284489.1:p.Ser343Cys, XP_047284489.1:p.Ser343Gly, XP_047284482.1:p.Ser392Cys, XP_047284482.1:p.Ser392Gly, XP_047284491.1:p.Ser88Cys, XP_047284491.1:p.Ser88Gly, XP_047284492.1:p.Ser22Cys, XP_047284492.1:p.Ser22Gly

                      11.

                      rs1474528894 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C,G [Show Flanks]
                        Chromosome:
                        12:57256499 (GRCh38)
                        12:57650282 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:57256498:T:C,NC_000012.12:57256498:T:G
                        Gene:
                        R3HDM2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        G=0.000546/1 (Korea1K)
                        HGVS:
                        NC_000012.12:g.57256499T>C, NC_000012.12:g.57256499T>G, NC_000012.11:g.57650282T>C, NC_000012.11:g.57650282T>G, NM_014925.5:c.2420A>G, NM_014925.5:c.2420A>C, NM_014925.4:c.2420A>G, NM_014925.4:c.2420A>C, NM_014925.3:c.2420A>G, NM_014925.3:c.2420A>C, NM_001351207.2:c.2588A>G, NM_001351207.2:c.2588A>C, NM_001351207.1:c.2588A>G, NM_001351207.1:c.2588A>C, NM_001351208.2:c.2564A>G, NM_001351208.2:c.2564A>C, NM_001351208.1:c.2564A>G, NM_001351208.1:c.2564A>C, NM_001351204.2:c.2618A>G, NM_001351204.2:c.2618A>C, NM_001351204.1:c.2618A>G, NM_001351204.1:c.2618A>C, NM_001351206.2:c.2618A>G, NM_001351206.2:c.2618A>C, NM_001351206.1:c.2618A>G, NM_001351206.1:c.2618A>C, NM_001330121.2:c.2522A>G, NM_001330121.2:c.2522A>C, NM_001330121.1:c.2522A>G, NM_001330121.1:c.2522A>C, NM_001330122.2:c.2522A>G, NM_001330122.2:c.2522A>C, NM_001330122.1:c.2522A>G, NM_001330122.1:c.2522A>C, NM_001351205.2:c.2618A>G, NM_001351205.2:c.2618A>C, NM_001351205.1:c.2618A>G, NM_001351205.1:c.2618A>C, NM_001351209.2:c.2516A>G, NM_001351209.2:c.2516A>C, NM_001351209.1:c.2516A>G, NM_001351209.1:c.2516A>C, NM_001351211.2:c.2486A>G, NM_001351211.2:c.2486A>C, NM_001351211.1:c.2486A>G, NM_001351211.1:c.2486A>C, NM_001351212.2:c.2468A>G, NM_001351212.2:c.2468A>C, NM_001351212.1:c.2468A>G, NM_001351212.1:c.2468A>C, NM_001351215.2:c.2468A>G, NM_001351215.2:c.2468A>C, NM_001351215.1:c.2468A>G, NM_001351215.1:c.2468A>C, NM_001351216.2:c.2456A>G, NM_001351216.2:c.2456A>C, NM_001351216.1:c.2456A>G, NM_001351216.1:c.2456A>C, NM_001351213.2:c.2468A>G, NM_001351213.2:c.2468A>C, NM_001351213.1:c.2468A>G, NM_001351213.1:c.2468A>C, NM_001330123.2:c.2390A>G, NM_001330123.2:c.2390A>C, NM_001330123.1:c.2390A>G, NM_001330123.1:c.2390A>C, NM_001351218.2:c.2366A>G, NM_001351218.2:c.2366A>C, NM_001351218.1:c.2366A>G, NM_001351218.1:c.2366A>C, NM_001351214.2:c.2468A>G, NM_001351214.2:c.2468A>C, NM_001351214.1:c.2468A>G, NM_001351214.1:c.2468A>C, NM_001351217.2:c.2366A>G, NM_001351217.2:c.2366A>C, NM_001351217.1:c.2366A>G, NM_001351217.1:c.2366A>C, XM_024448885.2:c.2603A>G, XM_024448885.2:c.2603A>C, XM_024448885.1:c.2456A>G, XM_024448885.1:c.2456A>C, XM_017019009.2:c.2591A>G, XM_017019009.2:c.2591A>C, XM_017019009.1:c.2444A>G, XM_017019009.1:c.2444A>C, XM_017019012.2:c.2573A>G, XM_017019012.2:c.2573A>C, XM_017019012.1:c.2426A>G, XM_017019012.1:c.2426A>C, XM_017019020.2:c.2477A>G, XM_017019020.2:c.2477A>C, XM_017019020.1:c.2330A>G, XM_017019020.1:c.2330A>C, XM_047428507.1:c.2738A>G, XM_047428507.1:c.2738A>C, XM_047428513.1:c.2642A>G, XM_047428513.1:c.2642A>C, XM_047428510.1:c.2642A>G, XM_047428510.1:c.2642A>C, XM_047428514.1:c.2642A>G, XM_047428514.1:c.2642A>C, XM_047428521.1:c.2564A>G, XM_047428521.1:c.2564A>C, XM_047428517.1:c.2618A>G, XM_047428517.1:c.2618A>C, XM_047428523.1:c.2540A>G, XM_047428523.1:c.2540A>C, XM_047428512.1:c.2642A>G, XM_047428512.1:c.2642A>C, XM_047428519.1:c.2588A>G, XM_047428519.1:c.2588A>C, XM_047428525.1:c.2516A>G, XM_047428525.1:c.2516A>C, NM_001394031.1:c.2462A>G, NM_001394031.1:c.2462A>C, XM_047428530.1:c.2459A>G, XM_047428530.1:c.2459A>C, XM_047428527.1:c.2486A>G, XM_047428527.1:c.2486A>C, XM_047428532.1:c.2402A>G, XM_047428532.1:c.2402A>C, XM_047428506.1:c.2789A>G, XM_047428506.1:c.2789A>C, XM_047428529.1:c.2462A>G, XM_047428529.1:c.2462A>C, XM_047428515.1:c.2642A>G, XM_047428515.1:c.2642A>C, XM_047428511.1:c.2642A>G, XM_047428511.1:c.2642A>C, XM_047428534.1:c.2306A>G, XM_047428534.1:c.2306A>C, XM_047428508.1:c.2687A>G, XM_047428508.1:c.2687A>C, XM_047428509.1:c.2663A>G, XM_047428509.1:c.2663A>C, XM_047428518.1:c.2609A>G, XM_047428518.1:c.2609A>C, XM_047428516.1:c.2633A>G, XM_047428516.1:c.2633A>C, XM_047428528.1:c.2462A>G, XM_047428528.1:c.2462A>C, XM_047428520.1:c.2567A>G, XM_047428520.1:c.2567A>C, XM_047428522.1:c.2549A>G, XM_047428522.1:c.2549A>C, XM_047428524.1:c.2537A>G, XM_047428524.1:c.2537A>C, XM_047428533.1:c.2366A>G, XM_047428533.1:c.2366A>C, XM_047428526.1:c.2513A>G, XM_047428526.1:c.2513A>C, XM_047428535.1:c.1703A>G, XM_047428535.1:c.1703A>C, XM_047428536.1:c.1403A>G, XM_047428536.1:c.1403A>C, NP_055740.3:p.Tyr807Cys, NP_055740.3:p.Tyr807Ser, NP_001338136.1:p.Tyr863Cys, NP_001338136.1:p.Tyr863Ser, NP_001338137.1:p.Tyr855Cys, NP_001338137.1:p.Tyr855Ser, NP_001338133.1:p.Tyr873Cys, NP_001338133.1:p.Tyr873Ser, NP_001338135.1:p.Tyr873Cys, NP_001338135.1:p.Tyr873Ser, NP_001317050.1:p.Tyr841Cys, NP_001317050.1:p.Tyr841Ser, NP_001317051.1:p.Tyr841Cys, NP_001317051.1:p.Tyr841Ser, NP_001338134.1:p.Tyr873Cys, NP_001338134.1:p.Tyr873Ser, NP_001338138.1:p.Tyr839Cys, NP_001338138.1:p.Tyr839Ser, NP_001338140.1:p.Tyr829Cys, NP_001338140.1:p.Tyr829Ser, NP_001338141.1:p.Tyr823Cys, NP_001338141.1:p.Tyr823Ser, NP_001338144.1:p.Tyr823Cys, NP_001338144.1:p.Tyr823Ser, NP_001338145.1:p.Tyr819Cys, NP_001338145.1:p.Tyr819Ser, NP_001338142.1:p.Tyr823Cys, NP_001338142.1:p.Tyr823Ser, NP_001317052.1:p.Tyr797Cys, NP_001317052.1:p.Tyr797Ser, NP_001338147.1:p.Tyr789Cys, NP_001338147.1:p.Tyr789Ser, NP_001338143.1:p.Tyr823Cys, NP_001338143.1:p.Tyr823Ser, NP_001338146.1:p.Tyr789Cys, NP_001338146.1:p.Tyr789Ser, XP_024304653.2:p.Tyr868Cys, XP_024304653.2:p.Tyr868Ser, XP_016874498.2:p.Tyr864Cys, XP_016874498.2:p.Tyr864Ser, XP_016874501.2:p.Tyr858Cys, XP_016874501.2:p.Tyr858Ser, XP_016874509.2:p.Tyr826Cys, XP_016874509.2:p.Tyr826Ser, XP_047284463.1:p.Tyr913Cys, XP_047284463.1:p.Tyr913Ser, XP_047284469.1:p.Tyr881Cys, XP_047284469.1:p.Tyr881Ser, XP_047284466.1:p.Tyr881Cys, XP_047284466.1:p.Tyr881Ser, XP_047284470.1:p.Tyr881Cys, XP_047284470.1:p.Tyr881Ser, XP_047284477.1:p.Tyr855Cys, XP_047284477.1:p.Tyr855Ser, XP_047284473.1:p.Tyr873Cys, XP_047284473.1:p.Tyr873Ser, XP_047284479.1:p.Tyr847Cys, XP_047284479.1:p.Tyr847Ser, XP_047284468.1:p.Tyr881Cys, XP_047284468.1:p.Tyr881Ser, XP_047284475.1:p.Tyr863Cys, XP_047284475.1:p.Tyr863Ser, XP_047284481.1:p.Tyr839Cys, XP_047284481.1:p.Tyr839Ser, NP_001380960.1:p.Tyr821Cys, NP_001380960.1:p.Tyr821Ser, XP_047284486.1:p.Tyr820Cys, XP_047284486.1:p.Tyr820Ser, XP_047284483.1:p.Tyr829Cys, XP_047284483.1:p.Tyr829Ser, XP_047284488.1:p.Tyr801Cys, XP_047284488.1:p.Tyr801Ser, XP_047284462.1:p.Tyr930Cys, XP_047284462.1:p.Tyr930Ser, XP_047284485.1:p.Tyr821Cys, XP_047284485.1:p.Tyr821Ser, XP_047284471.1:p.Tyr881Cys, XP_047284471.1:p.Tyr881Ser, XP_047284467.1:p.Tyr881Cys, XP_047284467.1:p.Tyr881Ser, XP_047284490.1:p.Tyr769Cys, XP_047284490.1:p.Tyr769Ser, XP_047284464.1:p.Tyr896Cys, XP_047284464.1:p.Tyr896Ser, XP_047284465.1:p.Tyr888Cys, XP_047284465.1:p.Tyr888Ser, XP_047284474.1:p.Tyr870Cys, XP_047284474.1:p.Tyr870Ser, XP_047284472.1:p.Tyr878Cys, XP_047284472.1:p.Tyr878Ser, XP_047284484.1:p.Tyr821Cys, XP_047284484.1:p.Tyr821Ser, XP_047284476.1:p.Tyr856Cys, XP_047284476.1:p.Tyr856Ser, XP_047284478.1:p.Tyr850Cys, XP_047284478.1:p.Tyr850Ser, XP_047284480.1:p.Tyr846Cys, XP_047284480.1:p.Tyr846Ser, XP_047284489.1:p.Tyr789Cys, XP_047284489.1:p.Tyr789Ser, XP_047284482.1:p.Tyr838Cys, XP_047284482.1:p.Tyr838Ser, XP_047284491.1:p.Tyr568Cys, XP_047284491.1:p.Tyr568Ser, XP_047284492.1:p.Tyr468Cys, XP_047284492.1:p.Tyr468Ser

                        12.

                        rs1474306662 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          12:57256457 (GRCh38)
                          12:57650240 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:57256456:C:A
                          Gene:
                          R3HDM2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          HGVS:
                          NC_000012.12:g.57256457C>A, NC_000012.11:g.57650240C>A, NM_014925.5:c.2462G>T, NM_014925.4:c.2462G>T, NM_014925.3:c.2462G>T, NM_001351207.2:c.2630G>T, NM_001351207.1:c.2630G>T, NM_001351208.2:c.2606G>T, NM_001351208.1:c.2606G>T, NM_001351204.2:c.2660G>T, NM_001351204.1:c.2660G>T, NM_001351206.2:c.2660G>T, NM_001351206.1:c.2660G>T, NM_001330121.2:c.2564G>T, NM_001330121.1:c.2564G>T, NM_001330122.2:c.2564G>T, NM_001330122.1:c.2564G>T, NM_001351205.2:c.2660G>T, NM_001351205.1:c.2660G>T, NM_001351209.2:c.2558G>T, NM_001351209.1:c.2558G>T, NM_001351211.2:c.2528G>T, NM_001351211.1:c.2528G>T, NM_001351212.2:c.2510G>T, NM_001351212.1:c.2510G>T, NM_001351215.2:c.2510G>T, NM_001351215.1:c.2510G>T, NM_001351216.2:c.2498G>T, NM_001351216.1:c.2498G>T, NM_001351213.2:c.2510G>T, NM_001351213.1:c.2510G>T, NM_001330123.2:c.2432G>T, NM_001330123.1:c.2432G>T, NM_001351218.2:c.2408G>T, NM_001351218.1:c.2408G>T, NM_001351214.2:c.2510G>T, NM_001351214.1:c.2510G>T, NM_001351217.2:c.2408G>T, NM_001351217.1:c.2408G>T, XM_024448885.2:c.2645G>T, XM_024448885.1:c.2498G>T, XM_017019009.2:c.2633G>T, XM_017019009.1:c.2486G>T, XM_017019012.2:c.2615G>T, XM_017019012.1:c.2468G>T, XM_017019020.2:c.2519G>T, XM_017019020.1:c.2372G>T, XM_047428507.1:c.2780G>T, XM_047428513.1:c.2684G>T, XM_047428510.1:c.2684G>T, XM_047428514.1:c.2684G>T, XM_047428521.1:c.2606G>T, XM_047428517.1:c.2660G>T, XM_047428523.1:c.2582G>T, XM_047428512.1:c.2684G>T, XM_047428519.1:c.2630G>T, XM_047428525.1:c.2558G>T, NM_001394031.1:c.2504G>T, XM_047428530.1:c.2501G>T, XM_047428527.1:c.2528G>T, XM_047428532.1:c.2444G>T, XM_047428506.1:c.2831G>T, XM_047428529.1:c.2504G>T, XM_047428515.1:c.2684G>T, XM_047428511.1:c.2684G>T, XM_047428534.1:c.2348G>T, XM_047428508.1:c.2729G>T, XM_047428509.1:c.2705G>T, XM_047428518.1:c.2651G>T, XM_047428516.1:c.2675G>T, XM_047428528.1:c.2504G>T, XM_047428520.1:c.2609G>T, XM_047428522.1:c.2591G>T, XM_047428524.1:c.2579G>T, XM_047428533.1:c.2408G>T, XM_047428526.1:c.2555G>T, XM_047428535.1:c.1745G>T, XM_047428536.1:c.1445G>T, NP_055740.3:p.Cys821Phe, NP_001338136.1:p.Cys877Phe, NP_001338137.1:p.Cys869Phe, NP_001338133.1:p.Cys887Phe, NP_001338135.1:p.Cys887Phe, NP_001317050.1:p.Cys855Phe, NP_001317051.1:p.Cys855Phe, NP_001338134.1:p.Cys887Phe, NP_001338138.1:p.Cys853Phe, NP_001338140.1:p.Cys843Phe, NP_001338141.1:p.Cys837Phe, NP_001338144.1:p.Cys837Phe, NP_001338145.1:p.Cys833Phe, NP_001338142.1:p.Cys837Phe, NP_001317052.1:p.Cys811Phe, NP_001338147.1:p.Cys803Phe, NP_001338143.1:p.Cys837Phe, NP_001338146.1:p.Cys803Phe, XP_024304653.2:p.Cys882Phe, XP_016874498.2:p.Cys878Phe, XP_016874501.2:p.Cys872Phe, XP_016874509.2:p.Cys840Phe, XP_047284463.1:p.Cys927Phe, XP_047284469.1:p.Cys895Phe, XP_047284466.1:p.Cys895Phe, XP_047284470.1:p.Cys895Phe, XP_047284477.1:p.Cys869Phe, XP_047284473.1:p.Cys887Phe, XP_047284479.1:p.Cys861Phe, XP_047284468.1:p.Cys895Phe, XP_047284475.1:p.Cys877Phe, XP_047284481.1:p.Cys853Phe, NP_001380960.1:p.Cys835Phe, XP_047284486.1:p.Cys834Phe, XP_047284483.1:p.Cys843Phe, XP_047284488.1:p.Cys815Phe, XP_047284462.1:p.Cys944Phe, XP_047284485.1:p.Cys835Phe, XP_047284471.1:p.Cys895Phe, XP_047284467.1:p.Cys895Phe, XP_047284490.1:p.Cys783Phe, XP_047284464.1:p.Cys910Phe, XP_047284465.1:p.Cys902Phe, XP_047284474.1:p.Cys884Phe, XP_047284472.1:p.Cys892Phe, XP_047284484.1:p.Cys835Phe, XP_047284476.1:p.Cys870Phe, XP_047284478.1:p.Cys864Phe, XP_047284480.1:p.Cys860Phe, XP_047284489.1:p.Cys803Phe, XP_047284482.1:p.Cys852Phe, XP_047284491.1:p.Cys582Phe, XP_047284492.1:p.Cys482Phe

                          13.

                          rs1472339947 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            12:57266813 (GRCh38)
                            12:57660596 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:57266812:C:T
                            Gene:
                            R3HDM2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000012.12:g.57266813C>T, NC_000012.11:g.57660596C>T, NM_014925.5:c.2007G>A, NM_014925.4:c.2007G>A, NM_014925.3:c.2007G>A, NM_001351207.2:c.2175G>A, NM_001351207.1:c.2175G>A, NM_001351208.2:c.2151G>A, NM_001351208.1:c.2151G>A, NM_001351204.2:c.2205G>A, NM_001351204.1:c.2205G>A, NM_001351206.2:c.2205G>A, NM_001351206.1:c.2205G>A, NM_001330121.2:c.2109G>A, NM_001330121.1:c.2109G>A, NM_001330122.2:c.2109G>A, NM_001330122.1:c.2109G>A, NM_001351205.2:c.2205G>A, NM_001351205.1:c.2205G>A, NM_001351209.2:c.2103G>A, NM_001351209.1:c.2103G>A, NM_001351211.2:c.2073G>A, NM_001351211.1:c.2073G>A, NM_001351212.2:c.2055G>A, NM_001351212.1:c.2055G>A, NM_001351215.2:c.2055G>A, NM_001351215.1:c.2055G>A, NM_001351216.2:c.2043G>A, NM_001351216.1:c.2043G>A, NM_001351213.2:c.2055G>A, NM_001351213.1:c.2055G>A, NM_001330123.2:c.1977G>A, NM_001330123.1:c.1977G>A, NM_001351218.2:c.1953G>A, NM_001351218.1:c.1953G>A, NM_001351214.2:c.2055G>A, NM_001351214.1:c.2055G>A, NM_001351217.2:c.1953G>A, NM_001351217.1:c.1953G>A, XM_024448885.2:c.2190G>A, XM_024448885.1:c.2043G>A, XM_017019009.2:c.2178G>A, XM_017019009.1:c.2031G>A, XM_017019012.2:c.2160G>A, XM_017019012.1:c.2013G>A, XM_017019020.2:c.2064G>A, XM_017019020.1:c.1917G>A, XM_047428507.1:c.2325G>A, XM_047428513.1:c.2229G>A, XM_047428510.1:c.2229G>A, XM_047428514.1:c.2229G>A, XM_047428521.1:c.2151G>A, XM_047428517.1:c.2205G>A, XM_047428523.1:c.2127G>A, XM_047428512.1:c.2229G>A, XM_047428519.1:c.2175G>A, XM_047428525.1:c.2103G>A, NM_001394031.1:c.2049G>A, XM_047428530.1:c.2046G>A, XM_047428527.1:c.2073G>A, XM_047428532.1:c.1989G>A, XM_047428506.1:c.2376G>A, XM_047428529.1:c.2049G>A, XM_047428515.1:c.2229G>A, XM_047428511.1:c.2229G>A, XM_047428534.1:c.1893G>A, XM_047428508.1:c.2274G>A, XM_047428509.1:c.2250G>A, XM_047428518.1:c.2196G>A, XM_047428516.1:c.2220G>A, XM_047428528.1:c.2049G>A, XM_047428520.1:c.2154G>A, XM_047428522.1:c.2136G>A, XM_047428524.1:c.2124G>A, XM_047428533.1:c.1953G>A, XM_047428526.1:c.2100G>A, XM_047428535.1:c.1290G>A, XM_047428536.1:c.990G>A

                            14.

                            rs1472170684 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              12:57280397 (GRCh38)
                              12:57674180 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:57280396:A:G
                              Gene:
                              R3HDM2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0.000071/1 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000012.12:g.57280397A>G, NC_000012.11:g.57674180A>G, NM_014925.5:c.1263T>C, NM_014925.4:c.1263T>C, NM_014925.3:c.1263T>C, NM_001351207.2:c.1329T>C, NM_001351207.1:c.1329T>C, NM_001351208.2:c.1305T>C, NM_001351208.1:c.1305T>C, NM_001351204.2:c.1359T>C, NM_001351204.1:c.1359T>C, NM_001351206.2:c.1359T>C, NM_001351206.1:c.1359T>C, NM_001330121.2:c.1263T>C, NM_001330121.1:c.1263T>C, NM_001330122.2:c.1263T>C, NM_001330122.1:c.1263T>C, NM_001351205.2:c.1359T>C, NM_001351205.1:c.1359T>C, NM_001351209.2:c.1359T>C, NM_001351209.1:c.1359T>C, NM_001351211.2:c.1329T>C, NM_001351211.1:c.1329T>C, NM_001351212.2:c.1209T>C, NM_001351212.1:c.1209T>C, NM_001351215.2:c.1209T>C, NM_001351215.1:c.1209T>C, NM_001351216.2:c.1299T>C, NM_001351216.1:c.1299T>C, NM_001351213.2:c.1209T>C, NM_001351213.1:c.1209T>C, NM_001330123.2:c.1233T>C, NM_001330123.1:c.1233T>C, NM_001351218.2:c.1209T>C, NM_001351218.1:c.1209T>C, NM_001351214.2:c.1209T>C, NM_001351214.1:c.1209T>C, NM_001351217.2:c.1209T>C, NM_001351217.1:c.1209T>C, XM_024448885.2:c.1446T>C, XM_024448885.1:c.1299T>C, XM_017019009.2:c.1434T>C, XM_017019009.1:c.1287T>C, XM_017019012.2:c.1416T>C, XM_017019012.1:c.1269T>C, XM_017019020.2:c.1320T>C, XM_017019020.1:c.1173T>C, XM_047428507.1:c.1479T>C, XM_047428513.1:c.1383T>C, XM_047428510.1:c.1383T>C, XM_047428514.1:c.1383T>C, XM_047428521.1:c.1305T>C, XM_047428517.1:c.1359T>C, XM_047428523.1:c.1383T>C, XM_047428512.1:c.1383T>C, XM_047428519.1:c.1329T>C, XM_047428525.1:c.1359T>C, NM_001394031.1:c.1305T>C, XM_047428530.1:c.1200T>C, XM_047428527.1:c.1329T>C, XM_047428532.1:c.1245T>C, XM_047428506.1:c.1530T>C, XM_047428529.1:c.1305T>C, XM_047428515.1:c.1383T>C, XM_047428511.1:c.1383T>C, XM_047428534.1:c.1149T>C, XM_047428508.1:c.1530T>C, XM_047428509.1:c.1506T>C, XM_047428518.1:c.1452T>C, XM_047428516.1:c.1476T>C, XM_047428528.1:c.1305T>C, XM_047428520.1:c.1410T>C, XM_047428522.1:c.1392T>C, XM_047428524.1:c.1380T>C, XM_047428533.1:c.1209T>C, XM_047428526.1:c.1356T>C, XM_047428535.1:c.444T>C, XM_047428536.1:c.246T>C

                              15.

                              rs1471147830 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                12:57255077 (GRCh38)
                                12:57648860 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:57255076:T:G
                                Gene:
                                R3HDM2 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.00022/1 (ALFA)
                                G=0.00004/1 (TOMMO)
                                G=0.00022/1 (Estonian)
                                HGVS:
                                NC_000012.12:g.57255077T>G, NC_000012.11:g.57648860T>G, NG_033835.1:g.1117A>C, NM_014925.5:c.2627A>C, NM_014925.4:c.2627A>C, NM_014925.3:c.2627A>C, NM_001351207.2:c.2795A>C, NM_001351207.1:c.2795A>C, NM_001351208.2:c.2771A>C, NM_001351208.1:c.2771A>C, NM_001351204.2:c.2825A>C, NM_001351204.1:c.2825A>C, NM_001351206.2:c.2825A>C, NM_001351206.1:c.2825A>C, NM_001330121.2:c.2729A>C, NM_001330121.1:c.2729A>C, NM_001330122.2:c.2729A>C, NM_001330122.1:c.2729A>C, NM_001351205.2:c.2825A>C, NM_001351205.1:c.2825A>C, NM_001351209.2:c.2723A>C, NM_001351209.1:c.2723A>C, NM_001351211.2:c.2693A>C, NM_001351211.1:c.2693A>C, NM_001351212.2:c.2675A>C, NM_001351212.1:c.2675A>C, NM_001351215.2:c.2675A>C, NM_001351215.1:c.2675A>C, NM_001351216.2:c.2663A>C, NM_001351216.1:c.2663A>C, NM_001351213.2:c.2675A>C, NM_001351213.1:c.2675A>C, NM_001330123.2:c.2597A>C, NM_001330123.1:c.2597A>C, NM_001351218.2:c.2573A>C, NM_001351218.1:c.2573A>C, NM_001351214.2:c.2675A>C, NM_001351214.1:c.2675A>C, NM_001351217.2:c.2573A>C, NM_001351217.1:c.2573A>C, XM_024448885.2:c.2810A>C, XM_024448885.1:c.2663A>C, XM_017019009.2:c.2798A>C, XM_017019009.1:c.2651A>C, XM_017019012.2:c.2780A>C, XM_017019012.1:c.2633A>C, XM_017019020.2:c.2684A>C, XM_017019020.1:c.2537A>C, XM_047428507.1:c.2945A>C, XM_047428513.1:c.2849A>C, XM_047428510.1:c.2849A>C, XM_047428514.1:c.2849A>C, XM_047428521.1:c.2771A>C, XM_047428517.1:c.2825A>C, XM_047428523.1:c.2747A>C, XM_047428512.1:c.2849A>C, XM_047428519.1:c.2795A>C, XM_047428525.1:c.2723A>C, NM_001394031.1:c.2669A>C, XM_047428530.1:c.2666A>C, XM_047428527.1:c.2693A>C, XM_047428532.1:c.2609A>C, XM_047428506.1:c.2996A>C, XM_047428529.1:c.2669A>C, XM_047428515.1:c.2849A>C, XM_047428511.1:c.2849A>C, XM_047428534.1:c.2513A>C, XM_047428508.1:c.2894A>C, XM_047428509.1:c.2870A>C, XM_047428518.1:c.2816A>C, XM_047428516.1:c.2840A>C, XM_047428528.1:c.2669A>C, XM_047428520.1:c.2774A>C, XM_047428522.1:c.2756A>C, XM_047428524.1:c.2744A>C, XM_047428533.1:c.2573A>C, XM_047428526.1:c.2720A>C, XM_047428535.1:c.1910A>C, XM_047428536.1:c.1610A>C, NP_055740.3:p.Glu876Ala, NP_001338136.1:p.Glu932Ala, NP_001338137.1:p.Glu924Ala, NP_001338133.1:p.Glu942Ala, NP_001338135.1:p.Glu942Ala, NP_001317050.1:p.Glu910Ala, NP_001317051.1:p.Glu910Ala, NP_001338134.1:p.Glu942Ala, NP_001338138.1:p.Glu908Ala, NP_001338140.1:p.Glu898Ala, NP_001338141.1:p.Glu892Ala, NP_001338144.1:p.Glu892Ala, NP_001338145.1:p.Glu888Ala, NP_001338142.1:p.Glu892Ala, NP_001317052.1:p.Glu866Ala, NP_001338147.1:p.Glu858Ala, NP_001338143.1:p.Glu892Ala, NP_001338146.1:p.Glu858Ala, XP_024304653.2:p.Glu937Ala, XP_016874498.2:p.Glu933Ala, XP_016874501.2:p.Glu927Ala, XP_016874509.2:p.Glu895Ala, XP_047284463.1:p.Glu982Ala, XP_047284469.1:p.Glu950Ala, XP_047284466.1:p.Glu950Ala, XP_047284470.1:p.Glu950Ala, XP_047284477.1:p.Glu924Ala, XP_047284473.1:p.Glu942Ala, XP_047284479.1:p.Glu916Ala, XP_047284468.1:p.Glu950Ala, XP_047284475.1:p.Glu932Ala, XP_047284481.1:p.Glu908Ala, NP_001380960.1:p.Glu890Ala, XP_047284486.1:p.Glu889Ala, XP_047284483.1:p.Glu898Ala, XP_047284488.1:p.Glu870Ala, XP_047284462.1:p.Glu999Ala, XP_047284485.1:p.Glu890Ala, XP_047284471.1:p.Glu950Ala, XP_047284467.1:p.Glu950Ala, XP_047284490.1:p.Glu838Ala, XP_047284464.1:p.Glu965Ala, XP_047284465.1:p.Glu957Ala, XP_047284474.1:p.Glu939Ala, XP_047284472.1:p.Glu947Ala, XP_047284484.1:p.Glu890Ala, XP_047284476.1:p.Glu925Ala, XP_047284478.1:p.Glu919Ala, XP_047284480.1:p.Glu915Ala, XP_047284489.1:p.Glu858Ala, XP_047284482.1:p.Glu907Ala, XP_047284491.1:p.Glu637Ala, XP_047284492.1:p.Glu537Ala

                                16.

                                rs1470705661 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  12:57258079 (GRCh38)
                                  12:57651862 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:57258078:G:A
                                  Gene:
                                  R3HDM2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000012.12:g.57258079G>A, NC_000012.11:g.57651862G>A, NM_014925.5:c.2318C>T, NM_014925.4:c.2318C>T, NM_014925.3:c.2318C>T, NM_001351207.2:c.2486C>T, NM_001351207.1:c.2486C>T, NM_001351208.2:c.2462C>T, NM_001351208.1:c.2462C>T, NM_001351204.2:c.2516C>T, NM_001351204.1:c.2516C>T, NM_001351206.2:c.2516C>T, NM_001351206.1:c.2516C>T, NM_001330121.2:c.2420C>T, NM_001330121.1:c.2420C>T, NM_001330122.2:c.2420C>T, NM_001330122.1:c.2420C>T, NM_001351205.2:c.2516C>T, NM_001351205.1:c.2516C>T, NM_001351209.2:c.2414C>T, NM_001351209.1:c.2414C>T, NM_001351211.2:c.2384C>T, NM_001351211.1:c.2384C>T, NM_001351212.2:c.2366C>T, NM_001351212.1:c.2366C>T, NM_001351215.2:c.2366C>T, NM_001351215.1:c.2366C>T, NM_001351216.2:c.2354C>T, NM_001351216.1:c.2354C>T, NM_001351213.2:c.2366C>T, NM_001351213.1:c.2366C>T, NM_001330123.2:c.2288C>T, NM_001330123.1:c.2288C>T, NM_001351218.2:c.2264C>T, NM_001351218.1:c.2264C>T, NM_001351214.2:c.2366C>T, NM_001351214.1:c.2366C>T, NM_001351217.2:c.2264C>T, NM_001351217.1:c.2264C>T, XM_024448885.2:c.2501C>T, XM_024448885.1:c.2354C>T, XM_017019009.2:c.2489C>T, XM_017019009.1:c.2342C>T, XM_017019012.2:c.2471C>T, XM_017019012.1:c.2324C>T, XM_017019020.2:c.2375C>T, XM_017019020.1:c.2228C>T, XM_047428507.1:c.2636C>T, XM_047428513.1:c.2540C>T, XM_047428510.1:c.2540C>T, XM_047428514.1:c.2540C>T, XM_047428521.1:c.2462C>T, XM_047428517.1:c.2516C>T, XM_047428523.1:c.2438C>T, XM_047428512.1:c.2540C>T, XM_047428519.1:c.2486C>T, XM_047428525.1:c.2414C>T, NM_001394031.1:c.2360C>T, XM_047428530.1:c.2357C>T, XM_047428527.1:c.2384C>T, XM_047428532.1:c.2300C>T, XM_047428506.1:c.2687C>T, XM_047428529.1:c.2360C>T, XM_047428515.1:c.2540C>T, XM_047428511.1:c.2540C>T, XM_047428534.1:c.2204C>T, XM_047428508.1:c.2585C>T, XM_047428509.1:c.2561C>T, XM_047428518.1:c.2507C>T, XM_047428516.1:c.2531C>T, XM_047428528.1:c.2360C>T, XM_047428520.1:c.2465C>T, XM_047428522.1:c.2447C>T, XM_047428524.1:c.2435C>T, XM_047428533.1:c.2264C>T, XM_047428526.1:c.2411C>T, XM_047428535.1:c.1601C>T, XM_047428536.1:c.1301C>T, NP_055740.3:p.Ser773Phe, NP_001338136.1:p.Ser829Phe, NP_001338137.1:p.Ser821Phe, NP_001338133.1:p.Ser839Phe, NP_001338135.1:p.Ser839Phe, NP_001317050.1:p.Ser807Phe, NP_001317051.1:p.Ser807Phe, NP_001338134.1:p.Ser839Phe, NP_001338138.1:p.Ser805Phe, NP_001338140.1:p.Ser795Phe, NP_001338141.1:p.Ser789Phe, NP_001338144.1:p.Ser789Phe, NP_001338145.1:p.Ser785Phe, NP_001338142.1:p.Ser789Phe, NP_001317052.1:p.Ser763Phe, NP_001338147.1:p.Ser755Phe, NP_001338143.1:p.Ser789Phe, NP_001338146.1:p.Ser755Phe, XP_024304653.2:p.Ser834Phe, XP_016874498.2:p.Ser830Phe, XP_016874501.2:p.Ser824Phe, XP_016874509.2:p.Ser792Phe, XP_047284463.1:p.Ser879Phe, XP_047284469.1:p.Ser847Phe, XP_047284466.1:p.Ser847Phe, XP_047284470.1:p.Ser847Phe, XP_047284477.1:p.Ser821Phe, XP_047284473.1:p.Ser839Phe, XP_047284479.1:p.Ser813Phe, XP_047284468.1:p.Ser847Phe, XP_047284475.1:p.Ser829Phe, XP_047284481.1:p.Ser805Phe, NP_001380960.1:p.Ser787Phe, XP_047284486.1:p.Ser786Phe, XP_047284483.1:p.Ser795Phe, XP_047284488.1:p.Ser767Phe, XP_047284462.1:p.Ser896Phe, XP_047284485.1:p.Ser787Phe, XP_047284471.1:p.Ser847Phe, XP_047284467.1:p.Ser847Phe, XP_047284490.1:p.Ser735Phe, XP_047284464.1:p.Ser862Phe, XP_047284465.1:p.Ser854Phe, XP_047284474.1:p.Ser836Phe, XP_047284472.1:p.Ser844Phe, XP_047284484.1:p.Ser787Phe, XP_047284476.1:p.Ser822Phe, XP_047284478.1:p.Ser816Phe, XP_047284480.1:p.Ser812Phe, XP_047284489.1:p.Ser755Phe, XP_047284482.1:p.Ser804Phe, XP_047284491.1:p.Ser534Phe, XP_047284492.1:p.Ser434Phe

                                  17.

                                  rs1468452275 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,T [Show Flanks]
                                    Chromosome:
                                    12:57254986 (GRCh38)
                                    12:57648769 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:57254985:C:A,NC_000012.12:57254985:C:T
                                    Gene:
                                    R3HDM2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    T=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    NC_000012.12:g.57254986C>A, NC_000012.12:g.57254986C>T, NC_000012.11:g.57648769C>A, NC_000012.11:g.57648769C>T, NG_033835.1:g.1208G>T, NG_033835.1:g.1208G>A, NM_014925.5:c.2718G>T, NM_014925.5:c.2718G>A, NM_014925.4:c.2718G>T, NM_014925.4:c.2718G>A, NM_014925.3:c.2718G>T, NM_014925.3:c.2718G>A, NM_001351207.2:c.2886G>T, NM_001351207.2:c.2886G>A, NM_001351207.1:c.2886G>T, NM_001351207.1:c.2886G>A, NM_001351208.2:c.2862G>T, NM_001351208.2:c.2862G>A, NM_001351208.1:c.2862G>T, NM_001351208.1:c.2862G>A, NM_001351204.2:c.2916G>T, NM_001351204.2:c.2916G>A, NM_001351204.1:c.2916G>T, NM_001351204.1:c.2916G>A, NM_001351206.2:c.2916G>T, NM_001351206.2:c.2916G>A, NM_001351206.1:c.2916G>T, NM_001351206.1:c.2916G>A, NM_001330121.2:c.2820G>T, NM_001330121.2:c.2820G>A, NM_001330121.1:c.2820G>T, NM_001330121.1:c.2820G>A, NM_001330122.2:c.2820G>T, NM_001330122.2:c.2820G>A, NM_001330122.1:c.2820G>T, NM_001330122.1:c.2820G>A, NM_001351205.2:c.2916G>T, NM_001351205.2:c.2916G>A, NM_001351205.1:c.2916G>T, NM_001351205.1:c.2916G>A, NM_001351209.2:c.2814G>T, NM_001351209.2:c.2814G>A, NM_001351209.1:c.2814G>T, NM_001351209.1:c.2814G>A, NM_001351211.2:c.2784G>T, NM_001351211.2:c.2784G>A, NM_001351211.1:c.2784G>T, NM_001351211.1:c.2784G>A, NM_001351212.2:c.2766G>T, NM_001351212.2:c.2766G>A, NM_001351212.1:c.2766G>T, NM_001351212.1:c.2766G>A, NM_001351215.2:c.2766G>T, NM_001351215.2:c.2766G>A, NM_001351215.1:c.2766G>T, NM_001351215.1:c.2766G>A, NM_001351216.2:c.2754G>T, NM_001351216.2:c.2754G>A, NM_001351216.1:c.2754G>T, NM_001351216.1:c.2754G>A, NM_001351213.2:c.2766G>T, NM_001351213.2:c.2766G>A, NM_001351213.1:c.2766G>T, NM_001351213.1:c.2766G>A, NM_001330123.2:c.2688G>T, NM_001330123.2:c.2688G>A, NM_001330123.1:c.2688G>T, NM_001330123.1:c.2688G>A, NM_001351218.2:c.2664G>T, NM_001351218.2:c.2664G>A, NM_001351218.1:c.2664G>T, NM_001351218.1:c.2664G>A, NM_001351214.2:c.2766G>T, NM_001351214.2:c.2766G>A, NM_001351214.1:c.2766G>T, NM_001351214.1:c.2766G>A, NM_001351217.2:c.2664G>T, NM_001351217.2:c.2664G>A, NM_001351217.1:c.2664G>T, NM_001351217.1:c.2664G>A, XM_024448885.2:c.2901G>T, XM_024448885.2:c.2901G>A, XM_024448885.1:c.2754G>T, XM_024448885.1:c.2754G>A, XM_017019009.2:c.2889G>T, XM_017019009.2:c.2889G>A, XM_017019009.1:c.2742G>T, XM_017019009.1:c.2742G>A, XM_017019012.2:c.2871G>T, XM_017019012.2:c.2871G>A, XM_017019012.1:c.2724G>T, XM_017019012.1:c.2724G>A, XM_017019020.2:c.2775G>T, XM_017019020.2:c.2775G>A, XM_017019020.1:c.2628G>T, XM_017019020.1:c.2628G>A, XM_047428507.1:c.3036G>T, XM_047428507.1:c.3036G>A, XM_047428513.1:c.2940G>T, XM_047428513.1:c.2940G>A, XM_047428510.1:c.2940G>T, XM_047428510.1:c.2940G>A, XM_047428514.1:c.2940G>T, XM_047428514.1:c.2940G>A, XM_047428521.1:c.2862G>T, XM_047428521.1:c.2862G>A, XM_047428517.1:c.2916G>T, XM_047428517.1:c.2916G>A, XM_047428523.1:c.2838G>T, XM_047428523.1:c.2838G>A, XM_047428512.1:c.2940G>T, XM_047428512.1:c.2940G>A, XM_047428519.1:c.2886G>T, XM_047428519.1:c.2886G>A, XM_047428525.1:c.2814G>T, XM_047428525.1:c.2814G>A, NM_001394031.1:c.2760G>T, NM_001394031.1:c.2760G>A, XM_047428530.1:c.2757G>T, XM_047428530.1:c.2757G>A, XM_047428527.1:c.2784G>T, XM_047428527.1:c.2784G>A, XM_047428532.1:c.2700G>T, XM_047428532.1:c.2700G>A, XM_047428506.1:c.3087G>T, XM_047428506.1:c.3087G>A, XM_047428529.1:c.2760G>T, XM_047428529.1:c.2760G>A, XM_047428515.1:c.2940G>T, XM_047428515.1:c.2940G>A, XM_047428511.1:c.2940G>T, XM_047428511.1:c.2940G>A, XM_047428534.1:c.2604G>T, XM_047428534.1:c.2604G>A, XM_047428508.1:c.2985G>T, XM_047428508.1:c.2985G>A, XM_047428509.1:c.2961G>T, XM_047428509.1:c.2961G>A, XM_047428518.1:c.2907G>T, XM_047428518.1:c.2907G>A, XM_047428516.1:c.2931G>T, XM_047428516.1:c.2931G>A, XM_047428528.1:c.2760G>T, XM_047428528.1:c.2760G>A, XM_047428520.1:c.2865G>T, XM_047428520.1:c.2865G>A, XM_047428522.1:c.2847G>T, XM_047428522.1:c.2847G>A, XM_047428524.1:c.2835G>T, XM_047428524.1:c.2835G>A, XM_047428533.1:c.2664G>T, XM_047428533.1:c.2664G>A, XM_047428526.1:c.2811G>T, XM_047428526.1:c.2811G>A, XM_047428535.1:c.2001G>T, XM_047428535.1:c.2001G>A, XM_047428536.1:c.1701G>T, XM_047428536.1:c.1701G>A

                                    18.

                                    rs1467969609 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      12:57269416 (GRCh38)
                                      12:57663199 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:57269415:G:A
                                      Gene:
                                      R3HDM2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000021/3 (GnomAD)
                                      HGVS:
                                      NC_000012.12:g.57269416G>A, NC_000012.11:g.57663199G>A, NM_014925.5:c.1579C>T, NM_014925.4:c.1579C>T, NM_014925.3:c.1579C>T, NM_001351207.2:c.1747C>T, NM_001351207.1:c.1747C>T, NM_001351208.2:c.1723C>T, NM_001351208.1:c.1723C>T, NM_001351204.2:c.1777C>T, NM_001351204.1:c.1777C>T, NM_001351206.2:c.1777C>T, NM_001351206.1:c.1777C>T, NM_001330121.2:c.1681C>T, NM_001330121.1:c.1681C>T, NM_001330122.2:c.1681C>T, NM_001330122.1:c.1681C>T, NM_001351205.2:c.1777C>T, NM_001351205.1:c.1777C>T, NM_001351209.2:c.1675C>T, NM_001351209.1:c.1675C>T, NM_001351211.2:c.1645C>T, NM_001351211.1:c.1645C>T, NM_001351212.2:c.1627C>T, NM_001351212.1:c.1627C>T, NM_001351215.2:c.1627C>T, NM_001351215.1:c.1627C>T, NM_001351216.2:c.1615C>T, NM_001351216.1:c.1615C>T, NM_001351213.2:c.1627C>T, NM_001351213.1:c.1627C>T, NM_001330123.2:c.1549C>T, NM_001330123.1:c.1549C>T, NM_001351218.2:c.1525C>T, NM_001351218.1:c.1525C>T, NM_001351214.2:c.1627C>T, NM_001351214.1:c.1627C>T, NM_001351217.2:c.1525C>T, NM_001351217.1:c.1525C>T, XM_024448885.2:c.1762C>T, XM_024448885.1:c.1615C>T, XM_017019009.2:c.1750C>T, XM_017019009.1:c.1603C>T, XM_017019012.2:c.1732C>T, XM_017019012.1:c.1585C>T, XM_017019020.2:c.1636C>T, XM_017019020.1:c.1489C>T, XM_047428507.1:c.1897C>T, XM_047428513.1:c.1801C>T, XM_047428510.1:c.1801C>T, XM_047428514.1:c.1801C>T, XM_047428521.1:c.1723C>T, XM_047428517.1:c.1777C>T, XM_047428523.1:c.1699C>T, XM_047428512.1:c.1801C>T, XM_047428519.1:c.1747C>T, XM_047428525.1:c.1675C>T, NM_001394031.1:c.1621C>T, XM_047428530.1:c.1618C>T, XM_047428527.1:c.1645C>T, XM_047428532.1:c.1561C>T, XM_047428506.1:c.1948C>T, XM_047428529.1:c.1621C>T, XM_047428515.1:c.1801C>T, XM_047428511.1:c.1801C>T, XM_047428534.1:c.1465C>T, XM_047428508.1:c.1846C>T, XM_047428509.1:c.1822C>T, XM_047428518.1:c.1768C>T, XM_047428516.1:c.1792C>T, XM_047428528.1:c.1621C>T, XM_047428520.1:c.1726C>T, XM_047428522.1:c.1708C>T, XM_047428524.1:c.1696C>T, XM_047428533.1:c.1525C>T, XM_047428526.1:c.1672C>T, XM_047428535.1:c.862C>T, XM_047428536.1:c.562C>T, NP_055740.3:p.Pro527Ser, NP_001338136.1:p.Pro583Ser, NP_001338137.1:p.Pro575Ser, NP_001338133.1:p.Pro593Ser, NP_001338135.1:p.Pro593Ser, NP_001317050.1:p.Pro561Ser, NP_001317051.1:p.Pro561Ser, NP_001338134.1:p.Pro593Ser, NP_001338138.1:p.Pro559Ser, NP_001338140.1:p.Pro549Ser, NP_001338141.1:p.Pro543Ser, NP_001338144.1:p.Pro543Ser, NP_001338145.1:p.Pro539Ser, NP_001338142.1:p.Pro543Ser, NP_001317052.1:p.Pro517Ser, NP_001338147.1:p.Pro509Ser, NP_001338143.1:p.Pro543Ser, NP_001338146.1:p.Pro509Ser, XP_024304653.2:p.Pro588Ser, XP_016874498.2:p.Pro584Ser, XP_016874501.2:p.Pro578Ser, XP_016874509.2:p.Pro546Ser, XP_047284463.1:p.Pro633Ser, XP_047284469.1:p.Pro601Ser, XP_047284466.1:p.Pro601Ser, XP_047284470.1:p.Pro601Ser, XP_047284477.1:p.Pro575Ser, XP_047284473.1:p.Pro593Ser, XP_047284479.1:p.Pro567Ser, XP_047284468.1:p.Pro601Ser, XP_047284475.1:p.Pro583Ser, XP_047284481.1:p.Pro559Ser, NP_001380960.1:p.Pro541Ser, XP_047284486.1:p.Pro540Ser, XP_047284483.1:p.Pro549Ser, XP_047284488.1:p.Pro521Ser, XP_047284462.1:p.Pro650Ser, XP_047284485.1:p.Pro541Ser, XP_047284471.1:p.Pro601Ser, XP_047284467.1:p.Pro601Ser, XP_047284490.1:p.Pro489Ser, XP_047284464.1:p.Pro616Ser, XP_047284465.1:p.Pro608Ser, XP_047284474.1:p.Pro590Ser, XP_047284472.1:p.Pro598Ser, XP_047284484.1:p.Pro541Ser, XP_047284476.1:p.Pro576Ser, XP_047284478.1:p.Pro570Ser, XP_047284480.1:p.Pro566Ser, XP_047284489.1:p.Pro509Ser, XP_047284482.1:p.Pro558Ser, XP_047284491.1:p.Pro288Ser, XP_047284492.1:p.Pro188Ser

                                      19.

                                      rs1466923568 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        12:57266792 (GRCh38)
                                        12:57660575 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:57266791:C:T
                                        Gene:
                                        R3HDM2 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000012.12:g.57266792C>T, NC_000012.11:g.57660575C>T, NM_014925.5:c.2028G>A, NM_014925.4:c.2028G>A, NM_014925.3:c.2028G>A, NM_001351207.2:c.2196G>A, NM_001351207.1:c.2196G>A, NM_001351208.2:c.2172G>A, NM_001351208.1:c.2172G>A, NM_001351204.2:c.2226G>A, NM_001351204.1:c.2226G>A, NM_001351206.2:c.2226G>A, NM_001351206.1:c.2226G>A, NM_001330121.2:c.2130G>A, NM_001330121.1:c.2130G>A, NM_001330122.2:c.2130G>A, NM_001330122.1:c.2130G>A, NM_001351205.2:c.2226G>A, NM_001351205.1:c.2226G>A, NM_001351209.2:c.2124G>A, NM_001351209.1:c.2124G>A, NM_001351211.2:c.2094G>A, NM_001351211.1:c.2094G>A, NM_001351212.2:c.2076G>A, NM_001351212.1:c.2076G>A, NM_001351215.2:c.2076G>A, NM_001351215.1:c.2076G>A, NM_001351216.2:c.2064G>A, NM_001351216.1:c.2064G>A, NM_001351213.2:c.2076G>A, NM_001351213.1:c.2076G>A, NM_001330123.2:c.1998G>A, NM_001330123.1:c.1998G>A, NM_001351218.2:c.1974G>A, NM_001351218.1:c.1974G>A, NM_001351214.2:c.2076G>A, NM_001351214.1:c.2076G>A, NM_001351217.2:c.1974G>A, NM_001351217.1:c.1974G>A, XM_024448885.2:c.2211G>A, XM_024448885.1:c.2064G>A, XM_017019009.2:c.2199G>A, XM_017019009.1:c.2052G>A, XM_017019012.2:c.2181G>A, XM_017019012.1:c.2034G>A, XM_017019020.2:c.2085G>A, XM_017019020.1:c.1938G>A, XM_047428507.1:c.2346G>A, XM_047428513.1:c.2250G>A, XM_047428510.1:c.2250G>A, XM_047428514.1:c.2250G>A, XM_047428521.1:c.2172G>A, XM_047428517.1:c.2226G>A, XM_047428523.1:c.2148G>A, XM_047428512.1:c.2250G>A, XM_047428519.1:c.2196G>A, XM_047428525.1:c.2124G>A, NM_001394031.1:c.2070G>A, XM_047428530.1:c.2067G>A, XM_047428527.1:c.2094G>A, XM_047428532.1:c.2010G>A, XM_047428506.1:c.2397G>A, XM_047428529.1:c.2070G>A, XM_047428515.1:c.2250G>A, XM_047428511.1:c.2250G>A, XM_047428534.1:c.1914G>A, XM_047428508.1:c.2295G>A, XM_047428509.1:c.2271G>A, XM_047428518.1:c.2217G>A, XM_047428516.1:c.2241G>A, XM_047428528.1:c.2070G>A, XM_047428520.1:c.2175G>A, XM_047428522.1:c.2157G>A, XM_047428524.1:c.2145G>A, XM_047428533.1:c.1974G>A, XM_047428526.1:c.2121G>A, XM_047428535.1:c.1311G>A, XM_047428536.1:c.1011G>A

                                        20.

                                        rs1463447536 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          12:57300129 (GRCh38)
                                          12:57693912 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:57300128:G:A
                                          Gene:
                                          R3HDM2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000019/3 (GnomAD_exomes)
                                          HGVS:
                                          NC_000012.12:g.57300129G>A, NC_000012.11:g.57693912G>A, NM_014925.5:c.260C>T, NM_014925.4:c.260C>T, NM_014925.3:c.260C>T, NM_001351207.2:c.284C>T, NM_001351207.1:c.284C>T, NM_001351208.2:c.260C>T, NM_001351208.1:c.260C>T, NM_001351204.2:c.260C>T, NM_001351204.1:c.260C>T, NM_001351206.2:c.260C>T, NM_001351206.1:c.260C>T, NM_001330121.2:c.260C>T, NM_001330121.1:c.260C>T, NM_001330122.2:c.260C>T, NM_001330122.1:c.260C>T, NM_001351205.2:c.260C>T, NM_001351205.1:c.260C>T, NM_001351209.2:c.260C>T, NM_001351209.1:c.260C>T, NM_001351211.2:c.284C>T, NM_001351211.1:c.284C>T, NM_001351212.2:c.260C>T, NM_001351212.1:c.260C>T, NM_001351215.2:c.260C>T, NM_001351215.1:c.260C>T, NM_001351216.2:c.260C>T, NM_001351216.1:c.260C>T, NM_001351213.2:c.260C>T, NM_001351213.1:c.260C>T, NM_001330123.2:c.284C>T, NM_001330123.1:c.284C>T, NM_001351218.2:c.260C>T, NM_001351218.1:c.260C>T, NM_001351214.2:c.260C>T, NM_001351214.1:c.260C>T, NM_001351217.2:c.260C>T, NM_001351217.1:c.260C>T, XM_024448885.2:c.407C>T, XM_024448885.1:c.260C>T, XM_017019009.2:c.431C>T, XM_017019009.1:c.284C>T, XM_017019012.2:c.431C>T, XM_017019012.1:c.284C>T, XM_017019020.2:c.431C>T, XM_017019020.1:c.284C>T, XM_047428507.1:c.380C>T, XM_047428513.1:c.284C>T, XM_047428510.1:c.284C>T, XM_047428514.1:c.284C>T, XM_047428521.1:c.260C>T, XM_047428517.1:c.260C>T, XM_047428523.1:c.284C>T, XM_047428512.1:c.284C>T, XM_047428519.1:c.284C>T, XM_047428525.1:c.260C>T, NM_001394031.1:c.260C>T, XM_047428530.1:c.101C>T, XM_047428527.1:c.284C>T, XM_047428532.1:c.260C>T, XM_047428506.1:c.431C>T, XM_047428529.1:c.260C>T, XM_047428515.1:c.284C>T, XM_047428511.1:c.284C>T, XM_047428534.1:c.260C>T, XM_047428508.1:c.431C>T, XM_047428509.1:c.407C>T, XM_047428518.1:c.407C>T, XM_047428516.1:c.431C>T, XM_047428528.1:c.260C>T, XM_047428520.1:c.407C>T, XM_047428522.1:c.407C>T, XM_047428524.1:c.431C>T, XM_047428533.1:c.260C>T, XM_047428526.1:c.407C>T, NP_055740.3:p.Ser87Phe, NP_001338136.1:p.Ser95Phe, NP_001338137.1:p.Ser87Phe, NP_001338133.1:p.Ser87Phe, NP_001338135.1:p.Ser87Phe, NP_001317050.1:p.Ser87Phe, NP_001317051.1:p.Ser87Phe, NP_001338134.1:p.Ser87Phe, NP_001338138.1:p.Ser87Phe, NP_001338140.1:p.Ser95Phe, NP_001338141.1:p.Ser87Phe, NP_001338144.1:p.Ser87Phe, NP_001338145.1:p.Ser87Phe, NP_001338142.1:p.Ser87Phe, NP_001317052.1:p.Ser95Phe, NP_001338147.1:p.Ser87Phe, NP_001338143.1:p.Ser87Phe, NP_001338146.1:p.Ser87Phe, XP_024304653.2:p.Ser136Phe, XP_016874498.2:p.Ser144Phe, XP_016874501.2:p.Ser144Phe, XP_016874509.2:p.Ser144Phe, XP_047284463.1:p.Ser127Phe, XP_047284469.1:p.Ser95Phe, XP_047284466.1:p.Ser95Phe, XP_047284470.1:p.Ser95Phe, XP_047284477.1:p.Ser87Phe, XP_047284473.1:p.Ser87Phe, XP_047284479.1:p.Ser95Phe, XP_047284468.1:p.Ser95Phe, XP_047284475.1:p.Ser95Phe, XP_047284481.1:p.Ser87Phe, NP_001380960.1:p.Ser87Phe, XP_047284486.1:p.Ser34Phe, XP_047284483.1:p.Ser95Phe, XP_047284488.1:p.Ser87Phe, XP_047284462.1:p.Ser144Phe, XP_047284485.1:p.Ser87Phe, XP_047284471.1:p.Ser95Phe, XP_047284467.1:p.Ser95Phe, XP_047284490.1:p.Ser87Phe, XP_047284464.1:p.Ser144Phe, XP_047284465.1:p.Ser136Phe, XP_047284474.1:p.Ser136Phe, XP_047284472.1:p.Ser144Phe, XP_047284484.1:p.Ser87Phe, XP_047284476.1:p.Ser136Phe, XP_047284478.1:p.Ser136Phe, XP_047284480.1:p.Ser144Phe, XP_047284489.1:p.Ser87Phe, XP_047284482.1:p.Ser136Phe

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